Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21563135C>ACA338877101ALPLc.323C>A (p.Pro108His)
n.383C>A
c.92C>A (p.Pro31His)
c.158C>A (p.Pro53His)
c.167C>A (p.Pro56His)
1g.21563135C=CA1141580633ALPLc.323C= (p.Pro108=)
n.383C=
c.92C= (p.Pro31=)
c.158C= (p.Pro53=)
c.167C= (p.Pro56=)
1g.21563135C>GCA338877102ALPLc.323C>G (p.Pro108Arg)
n.383C>G
c.92C>G (p.Pro31Arg)
c.158C>G (p.Pro53Arg)
c.167C>G (p.Pro56Arg)
1g.21563135C>TCA123349ALPLc.323C>T (p.Pro108Leu)
n.383C>T
c.92C>T (p.Pro31Leu)
c.158C>T (p.Pro53Leu)
c.167C>T (p.Pro56Leu)
 ClinVar dbSNP
1g.21563136T>ACA416525651ALPLc.324T>A (p.Pro108=)
n.384T>A
c.93T>A (p.Pro31=)
c.159T>A (p.Pro53=)
c.168T>A (p.Pro56=)
1g.21563136T>CCA416525652ALPLc.324T>C (p.Pro108=)
n.384T>C
c.93T>C (p.Pro31=)
c.159T>C (p.Pro53=)
c.168T>C (p.Pro56=)
 ClinVar dbSNP
1g.21563136T>GCA416525654ALPLc.324T>G (p.Pro108=)
n.384T>G
c.93T>G (p.Pro31=)
c.159T>G (p.Pro53=)
c.168T>G (p.Pro56=)
 ClinVar
1g.21563136T=CA1158014010ALPLc.324T= (p.Pro108=)
n.384T=
c.93T= (p.Pro31=)
c.159T= (p.Pro53=)
c.168T= (p.Pro56=)
1g.21563137G>ACA338877103ALPLc.325G>A (p.Asp109Asn)
n.385G>A
c.94G>A (p.Asp32Asn)
c.160G>A (p.Asp54Asn)
c.169G>A (p.Asp57Asn)
1g.21563137G>CCA338877104ALPLc.325G>C (p.Asp109His)
n.385G>C
c.94G>C (p.Asp32His)
c.160G>C (p.Asp54His)
c.169G>C (p.Asp57His)
 dbSNP
1g.21563137G=CA1158014011ALPLc.325G= (p.Asp109=)
n.385G=
c.94G= (p.Asp32=)
c.160G= (p.Asp54=)
c.169G= (p.Asp57=)
1g.21563137G>TCA338877105ALPLc.325G>T (p.Asp109Tyr)
n.385G>T
c.94G>T (p.Asp32Tyr)
c.160G>T (p.Asp54Tyr)
c.169G>T (p.Asp57Tyr)
1g.21563138A>CCA338877106ALPLc.326A>C (p.Asp109Ala)
n.386A>C
c.95A>C (p.Asp32Ala)
c.161A>C (p.Asp54Ala)
c.170A>C (p.Asp57Ala)
1g.21563138A>GCA338877107ALPLc.326A>G (p.Asp109Gly)
n.386A>G
c.95A>G (p.Asp32Gly)
c.161A>G (p.Asp54Gly)
c.170A>G (p.Asp57Gly)
1g.21563138A>TCA338877108ALPLc.326A>T (p.Asp109Val)
n.386A>T
c.95A>T (p.Asp32Val)
c.161A>T (p.Asp54Val)
c.170A>T (p.Asp57Val)
 gnomAD v4
1g.21563139C>ACA338877109ALPLc.327C>A (p.Asp109Glu)
n.387C>A
c.96C>A (p.Asp32Glu)
c.162C>A (p.Asp54Glu)
c.171C>A (p.Asp57Glu)
1g.21563139C>GCA338877110ALPLc.327C>G (p.Asp109Glu)
n.387C>G
c.96C>G (p.Asp32Glu)
c.162C>G (p.Asp54Glu)
c.171C>G (p.Asp57Glu)
1g.21563139C>TCA416525663ALPLc.327C>T (p.Asp109=)
n.387C>T
c.96C>T (p.Asp32=)
c.162C>T (p.Asp54=)
c.171C>T (p.Asp57=)
 ClinVar gnomAD v4
1g.21563139_21563141dupCA2739272369ALPLc.327_329dup (p.Ser110_Ala111insSer)
n.387_389dup
c.96_98dup (p.Ser33_Ala34insSer)
c.162_164dup (p.Ser55_Ala56insSer)
c.171_173dup (p.Ser58_Ala59insSer)
 ClinVar
1g.21563140A>CCA338877111ALPLc.328A>C (p.Ser110Arg)
n.388A>C
c.97A>C (p.Ser33Arg)
c.163A>C (p.Ser55Arg)
c.172A>C (p.Ser58Arg)
1g.21563140A>GCA338877112ALPLc.328A>G (p.Ser110Gly)
n.388A>G
c.97A>G (p.Ser33Gly)
c.163A>G (p.Ser55Gly)
c.172A>G (p.Ser58Gly)
1g.21563140A>TCA338877113ALPLc.328A>T (p.Ser110Cys)
n.388A>T
c.97A>T (p.Ser33Cys)
c.163A>T (p.Ser55Cys)
c.172A>T (p.Ser58Cys)
 gnomAD v4
1g.21563140_21563141delCA2643930236ALPLc.328_329del (p.Ser110CysfsTer15)
n.388_389del
c.97_98del (p.Ser33CysfsTer15)
c.163_164del (p.Ser55CysfsTer15)
c.328_329del (p.Ser110ArgfsTer15)
c.163_164del (p.Ser55ArgfsTer15)
c.97_98del (p.Ser33ArgfsTer15)
c.172_173del (p.Ser58CysfsTer15)
 gnomAD v4
1g.21563141G>ACA338877116ALPLc.329G>A (p.Ser110Asn)
n.389G>A
c.98G>A (p.Ser33Asn)
c.164G>A (p.Ser55Asn)
c.173G>A (p.Ser58Asn)
 ClinVar
1g.21563141G>CCA338877114ALPLc.329G>C (p.Ser110Thr)
n.389G>C
c.98G>C (p.Ser33Thr)
c.164G>C (p.Ser55Thr)
c.173G>C (p.Ser58Thr)
1g.21563141G>TCA338877115ALPLc.329G>T (p.Ser110Ile)
n.389G>T
c.98G>T (p.Ser33Ile)
c.164G>T (p.Ser55Ile)
c.173G>T (p.Ser58Ile)
1g.21563141_21563142delinsACCA2573130833ALPLc.329_330delinsAC (p.Ser110Asn)
n.389_390delinsAC
c.98_99delinsAC (p.Ser33Asn)
c.164_165delinsAC (p.Ser55Asn)
c.173_174delinsAC (p.Ser58Asn)
 ClinVar
1g.21563141_21563150delinsGTGCCGGCACCA1158014012ALPLc.329_338delinsGTGCCGGCAC (p.Ser110=)
n.389_398delinsGTGCCGGCAC
c.98_107delinsGTGCCGGCAC (p.Ser33=)
c.164_173delinsGTGCCGGCAC (p.Ser55=)
c.173_182delinsGTGCCGGCAC (p.Ser58=)
1g.21563142T>ACA338877117ALPLc.330T>A (p.Ser110Arg)
n.390T>A
c.99T>A (p.Ser33Arg)
c.165T>A (p.Ser55Arg)
c.174T>A (p.Ser58Arg)
 gnomAD v3 gnomAD v4
1g.21563142T>CCA203015ALPLc.330T>C (p.Ser110=)
n.390T>C
c.99T>C (p.Ser33=)
c.165T>C (p.Ser55=)
c.174T>C (p.Ser58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563142T>GCA338877118ALPLc.330T>G (p.Ser110Arg)
n.390T>G
c.99T>G (p.Ser33Arg)
c.165T>G (p.Ser55Arg)
c.174T>G (p.Ser58Arg)
1g.21563142T=CA658795412ALPLc.330T= (p.Ser110=)
n.390T=
c.99T= (p.Ser33=)
c.165T= (p.Ser55=)
c.174T= (p.Ser58=)
1g.21563142_21563150delCA19059141ALPLc.330_338del (p.Ala111_Thr113del)
n.390_398del
c.99_107del (p.Ala34_Thr36del)
c.165_173del (p.Ala56_Thr58del)
c.174_182del (p.Ala59_Thr61del)
 dbSNP
1g.21563142_21563150delinsTGCCGGCACCA1143399657ALPLc.330_338delinsTGCCGGCAC (p.Ser110=)
n.390_398delinsTGCCGGCAC
c.99_107delinsTGCCGGCAC (p.Ser33=)
c.165_173delinsTGCCGGCAC (p.Ser55=)
c.174_182delinsTGCCGGCAC (p.Ser58=)
1g.21563143G>ACA666460ALPLc.331G>A (p.Ala111Thr)
n.391G>A
c.100G>A (p.Ala34Thr)
c.166G>A (p.Ala56Thr)
c.175G>A (p.Ala59Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563143G>CCA338877119ALPLc.331G>C (p.Ala111Pro)
n.391G>C
c.100G>C (p.Ala34Pro)
c.166G>C (p.Ala56Pro)
c.175G>C (p.Ala59Pro)
1g.21563143G=CA1158014013ALPLc.331G= (p.Ala111=)
n.391G=
c.100G= (p.Ala34=)
c.166G= (p.Ala56=)
c.175G= (p.Ala59=)
1g.21563143G>TCA338877120ALPLc.331G>T (p.Ala111Ser)
n.391G>T
c.100G>T (p.Ala34Ser)
c.166G>T (p.Ala56Ser)
c.175G>T (p.Ala59Ser)
1g.21563143_21563144insTACAACACCAATGCCCAGGTCCCTGACAGCGCA999404707ALPLc.331_332insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala111ValfsTer9)
n.391_392insTACAACACCAATGCCCAGGTCCCTGACAGCG
c.100_101insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala34ValfsTer9)
c.166_167insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala56ValfsTer9)
c.175_176insTACAACACCAATGCCCAGGTCCCTGACAGCG (p.Ala59ValfsTer9)
1g.21563144C>ACA338877121ALPLc.332C>A (p.Ala111Asp)
n.392C>A
c.101C>A (p.Ala34Asp)
c.167C>A (p.Ala56Asp)
c.176C>A (p.Ala59Asp)
1g.21563144C>GCA338877122ALPLc.332C>G (p.Ala111Gly)
n.392C>G
c.101C>G (p.Ala34Gly)
c.167C>G (p.Ala56Gly)
c.176C>G (p.Ala59Gly)
1g.21563144C>TCA338877123ALPLc.332C>T (p.Ala111Val)
n.392C>T
c.101C>T (p.Ala34Val)
c.167C>T (p.Ala56Val)
c.176C>T (p.Ala59Val)
1g.21563145delCA2586964017ALPLc.333del (p.Gly112AlafsTer10)
n.393del
c.102del (p.Gly35AlafsTer10)
c.168del (p.Gly57AlafsTer10)
c.177del (p.Gly60AlafsTer10)
1g.21563147_21563152dupCA19059142ALPLc.335_340dup (p.Thr113_Ala114insGlyThr)
n.395_400dup
c.104_109dup (p.Thr36_Ala37insGlyThr)
c.170_175dup (p.Thr58_Ala59insGlyThr)
c.179_184dup (p.Thr61_Ala62insGlyThr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21563145C>ACA416525683ALPLc.333C>A (p.Ala111=)
n.393C>A
c.102C>A (p.Ala34=)
c.168C>A (p.Ala56=)
c.177C>A (p.Ala59=)
1g.21563145C=CA1158014014ALPLc.333C= (p.Ala111=)
n.393C=
c.102C= (p.Ala34=)
c.168C= (p.Ala56=)
c.177C= (p.Ala59=)
1g.21563145C>GCA416525686ALPLc.333C>G (p.Ala111=)
n.393C>G
c.102C>G (p.Ala34=)
c.168C>G (p.Ala56=)
c.177C>G (p.Ala59=)
1g.21563145C>TCA666461ALPLc.333C>T (p.Ala111=)
n.393C>T
c.102C>T (p.Ala34=)
c.168C>T (p.Ala56=)
c.177C>T (p.Ala59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563146G>ACA338877125ALPLc.334G>A (p.Gly112Ser)
n.394G>A
c.103G>A (p.Gly35Ser)
c.169G>A (p.Gly57Ser)
c.178G>A (p.Gly60Ser)
 ClinVar dbSNP gnomAD v4
1g.21563146G>CCA338877126ALPLc.334G>C (p.Gly112Arg)
n.394G>C
c.103G>C (p.Gly35Arg)
c.169G>C (p.Gly57Arg)
c.178G>C (p.Gly60Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.21563146G=CA1158014015ALPLc.334G= (p.Gly112=)
n.394G=
c.103G= (p.Gly35=)
c.169G= (p.Gly57=)
c.178G= (p.Gly60=)
1g.21563146G>TCA338877124ALPLc.334G>T (p.Gly112Cys)
n.394G>T
c.103G>T (p.Gly35Cys)
c.169G>T (p.Gly57Cys)
c.178G>T (p.Gly60Cys)
 COSMIC
1g.21563147G>ACA338877129ALPLc.335G>A (p.Gly112Asp)
n.395G>A
c.104G>A (p.Gly35Asp)
c.170G>A (p.Gly57Asp)
c.179G>A (p.Gly60Asp)
1g.21563147G>CCA338877127ALPLc.335G>C (p.Gly112Ala)
n.395G>C
c.104G>C (p.Gly35Ala)
c.170G>C (p.Gly57Ala)
c.179G>C (p.Gly60Ala)
 ClinVar dbSNP gnomAD v4
1g.21563147G>TCA338877128ALPLc.335G>T (p.Gly112Val)
n.395G>T
c.104G>T (p.Gly35Val)
c.170G>T (p.Gly57Val)
c.179G>T (p.Gly60Val)
1g.21563148C>ACA416525697ALPLc.336C>A (p.Gly112=)
n.396C>A
c.105C>A (p.Gly35=)
c.171C>A (p.Gly57=)
c.180C>A (p.Gly60=)
1g.21563148C>GCA416525699ALPLc.336C>G (p.Gly112=)
n.396C>G
c.105C>G (p.Gly35=)
c.171C>G (p.Gly57=)
c.180C>G (p.Gly60=)
1g.21563148C>TCA416525695ALPLc.336C>T (p.Gly112=)
n.396C>T
c.105C>T (p.Gly35=)
c.171C>T (p.Gly57=)
c.180C>T (p.Gly60=)
1g.21563155_21563160dupCA2580611134ALPLc.343_348dup (p.Ala116_Tyr117insThrAla)
n.403_408dup
c.112_117dup (p.Ala39_Tyr40insThrAla)
c.178_183dup (p.Ala61_Tyr62insThrAla)
c.187_192dup (p.Ala64_Tyr65insThrAla)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21563149A>CCA338877130ALPLc.337A>C (p.Thr113Pro)
n.397A>C
c.106A>C (p.Thr36Pro)
c.172A>C (p.Thr58Pro)
c.181A>C (p.Thr61Pro)
1g.21563149A>GCA338877131ALPLc.337A>G (p.Thr113Ala)
n.397A>G
c.106A>G (p.Thr36Ala)
c.172A>G (p.Thr58Ala)
c.181A>G (p.Thr61Ala)
1g.21563149A>TCA338877132ALPLc.337A>T (p.Thr113Ser)
n.397A>T
c.106A>T (p.Thr36Ser)
c.172A>T (p.Thr58Ser)
c.181A>T (p.Thr61Ser)
1g.21563150C>ACA338877133ALPLc.338C>A (p.Thr113Asn)
n.398C>A
c.107C>A (p.Thr36Asn)
c.173C>A (p.Thr58Asn)
c.182C>A (p.Thr61Asn)
1g.21563150C>GCA338877134ALPLc.338C>G (p.Thr113Ser)
n.398C>G
c.107C>G (p.Thr36Ser)
c.173C>G (p.Thr58Ser)
c.182C>G (p.Thr61Ser)
1g.21563150C>TCA338877135ALPLc.338C>T (p.Thr113Ile)
n.398C>T
c.107C>T (p.Thr36Ile)
c.173C>T (p.Thr58Ile)
c.182C>T (p.Thr61Ile)
1g.21563151C>ACA416525713ALPLc.339C>A (p.Thr113=)
n.399C>A
c.108C>A (p.Thr36=)
c.174C>A (p.Thr58=)
c.183C>A (p.Thr61=)
1g.21563151C=CA1144193793ALPLc.339C= (p.Thr113=)
n.399C=
c.108C= (p.Thr36=)
c.174C= (p.Thr58=)
c.183C= (p.Thr61=)
1g.21563151C>GCA416525710ALPLc.339C>G (p.Thr113=)
n.399C>G
c.108C>G (p.Thr36=)
c.174C>G (p.Thr58=)
c.183C>G (p.Thr61=)
1g.21563151C>TCA666462ALPLc.339C>T (p.Thr113=)
n.399C>T
c.108C>T (p.Thr36=)
c.174C>T (p.Thr58=)
c.183C>T (p.Thr61=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563152G>ACA338877136ALPLc.340G>A (p.Ala114Thr)
n.400G>A
c.109G>A (p.Ala37Thr)
c.175G>A (p.Ala59Thr)
c.184G>A (p.Ala62Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21563152G>CCA338877137ALPLc.340G>C (p.Ala114Pro)
n.400G>C
c.109G>C (p.Ala37Pro)
c.175G>C (p.Ala59Pro)
c.184G>C (p.Ala62Pro)
1g.21563152G=CA1158014016ALPLc.340G= (p.Ala114=)
n.400G=
c.109G= (p.Ala37=)
c.175G= (p.Ala59=)
c.184G= (p.Ala62=)
1g.21563152G>TCA338877138ALPLc.340G>T (p.Ala114Ser)
n.400G>T
c.109G>T (p.Ala37Ser)
c.175G>T (p.Ala59Ser)
c.184G>T (p.Ala62Ser)
1g.21563153C>ACA338877139ALPLc.341C>A (p.Ala114Asp)
n.401C>A
c.110C>A (p.Ala37Asp)
c.176C>A (p.Ala59Asp)
c.185C>A (p.Ala62Asp)
1g.21563153C=CA1158014017ALPLc.341C= (p.Ala114=)
n.401C=
c.110C= (p.Ala37=)
c.176C= (p.Ala59=)
c.185C= (p.Ala62=)
1g.21563153C>GCA338877140ALPLc.341C>G (p.Ala114Gly)
n.401C>G
c.110C>G (p.Ala37Gly)
c.176C>G (p.Ala59Gly)
c.185C>G (p.Ala62Gly)
1g.21563153C>TCA666463ALPLc.341C>T (p.Ala114Val)
n.401C>T
c.110C>T (p.Ala37Val)
c.176C>T (p.Ala59Val)
c.185C>T (p.Ala62Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563154C>ACA416525723ALPLc.342C>A (p.Ala114=)
n.402C>A
c.111C>A (p.Ala37=)
c.177C>A (p.Ala59=)
c.186C>A (p.Ala62=)
1g.21563154C>GCA416525721ALPLc.342C>G (p.Ala114=)
n.402C>G
c.111C>G (p.Ala37=)
c.177C>G (p.Ala59=)
c.186C>G (p.Ala62=)
1g.21563154C>TCA416525725ALPLc.342C>T (p.Ala114=)
n.402C>T
c.111C>T (p.Ala37=)
c.177C>T (p.Ala59=)
c.186C>T (p.Ala62=)
1g.21563155A>CCA338877141ALPLc.343A>C (p.Thr115Pro)
n.403A>C
c.112A>C (p.Thr38Pro)
c.178A>C (p.Thr60Pro)
c.187A>C (p.Thr63Pro)
1g.21563155A>GCA338877142ALPLc.343A>G (p.Thr115Ala)
n.403A>G
c.112A>G (p.Thr38Ala)
c.178A>G (p.Thr60Ala)
c.187A>G (p.Thr63Ala)
1g.21563155A>TCA338877143ALPLc.343A>T (p.Thr115Ser)
n.403A>T
c.112A>T (p.Thr38Ser)
c.178A>T (p.Thr60Ser)
c.187A>T (p.Thr63Ser)
1g.21563156C>ACA338877144ALPLc.344C>A (p.Thr115Asn)
n.404C>A
c.113C>A (p.Thr38Asn)
c.179C>A (p.Thr60Asn)
c.188C>A (p.Thr63Asn)
1g.21563156C>GCA338877145ALPLc.344C>G (p.Thr115Ser)
n.404C>G
c.113C>G (p.Thr38Ser)
c.179C>G (p.Thr60Ser)
c.188C>G (p.Thr63Ser)
1g.21563156C>TCA338877146ALPLc.344C>T (p.Thr115Ile)
n.404C>T
c.113C>T (p.Thr38Ile)
c.179C>T (p.Thr60Ile)
c.188C>T (p.Thr63Ile)
 ClinVar gnomAD v4
1g.21563157C>ACA416525734ALPLc.345C>A (p.Thr115=)
n.405C>A
c.114C>A (p.Thr38=)
c.180C>A (p.Thr60=)
c.189C>A (p.Thr63=)
1g.21563157C=CA1158014018ALPLc.345C= (p.Thr115=)
n.405C=
c.114C= (p.Thr38=)
c.180C= (p.Thr60=)
c.189C= (p.Thr63=)
1g.21563157C>GCA416525732ALPLc.345C>G (p.Thr115=)
n.405C>G
c.114C>G (p.Thr38=)
c.180C>G (p.Thr60=)
c.189C>G (p.Thr63=)
1g.21563157C>TCA666464ALPLc.345C>T (p.Thr115=)
n.405C>T
c.114C>T (p.Thr38=)
c.180C>T (p.Thr60=)
c.189C>T (p.Thr63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563158G>ACA123348ALPLc.346G>A (p.Ala116Thr)
n.406G>A
c.115G>A (p.Ala39Thr)
c.181G>A (p.Ala61Thr)
c.190G>A (p.Ala64Thr)
 ClinVar dbSNP gnomAD v4
1g.21563158G>CCA338877147ALPLc.346G>C (p.Ala116Pro)
n.406G>C
c.115G>C (p.Ala39Pro)
c.181G>C (p.Ala61Pro)
c.190G>C (p.Ala64Pro)
 dbSNP
1g.21563158G=CA1141580634ALPLc.346G= (p.Ala116=)
n.406G=
c.115G= (p.Ala39=)
c.181G= (p.Ala61=)
c.190G= (p.Ala64=)
1g.21563158G>TCA338877148ALPLc.346G>T (p.Ala116Ser)
n.406G>T
c.115G>T (p.Ala39Ser)
c.181G>T (p.Ala61Ser)
c.190G>T (p.Ala64Ser)
 ClinVar dbSNP gnomAD v4
1g.21563159C>ACA338877149ALPLc.347C>A (p.Ala116Asp)
n.407C>A
c.116C>A (p.Ala39Asp)
c.182C>A (p.Ala61Asp)
c.191C>A (p.Ala64Asp)
1g.21563159C>GCA338877150ALPLc.347C>G (p.Ala116Gly)
n.407C>G
c.116C>G (p.Ala39Gly)
c.182C>G (p.Ala61Gly)
c.191C>G (p.Ala64Gly)
1g.21563159C>TCA338877151ALPLc.347C>T (p.Ala116Val)
n.407C>T
c.116C>T (p.Ala39Val)
c.182C>T (p.Ala61Val)
c.191C>T (p.Ala64Val)
1g.21563160C>ACA416525744ALPLc.348C>A (p.Ala116=)
n.408C>A
c.117C>A (p.Ala39=)
c.183C>A (p.Ala61=)
c.192C>A (p.Ala64=)
1g.21563160C>GCA416525745ALPLc.348C>G (p.Ala116=)
n.408C>G
c.117C>G (p.Ala39=)
c.183C>G (p.Ala61=)
c.192C>G (p.Ala64=)
1g.21563160C>TCA416525743ALPLc.348C>T (p.Ala116=)
n.408C>T
c.117C>T (p.Ala39=)
c.183C>T (p.Ala61=)
c.192C>T (p.Ala64=)
1g.21563160_21563161insACCGTCCA2586964018ALPLc.348_349insACCGTC (p.Ala116_Tyr117insThrVal)
n.408_409insACCGTC
c.117_118insACCGTC (p.Ala39_Tyr40insThrVal)
c.183_184insACCGTC (p.Ala61_Tyr62insThrVal)
c.192_193insACCGTC (p.Ala64_Tyr65insThrVal)
1g.21563161T>ACA338877154ALPLc.349T>A (p.Tyr117Asn)
n.409T>A
c.118T>A (p.Tyr40Asn)
c.184T>A (p.Tyr62Asn)
c.193T>A (p.Tyr65Asn)
1g.21563161T>CCA338877153ALPLc.349T>C (p.Tyr117His)
n.409T>C
c.118T>C (p.Tyr40His)
c.184T>C (p.Tyr62His)
c.193T>C (p.Tyr65His)
 gnomAD v4
1g.21563161T>GCA338877152ALPLc.349T>G (p.Tyr117Asp)
n.409T>G
c.118T>G (p.Tyr40Asp)
c.184T>G (p.Tyr62Asp)
c.193T>G (p.Tyr65Asp)
1g.21563162_21563167delCA2580061453ALPLc.350_355del (p.Tyr117_Leu118del)
n.410_415del
c.119_124del (p.Tyr40_Leu41del)
c.185_190del (p.Tyr62_Leu63del)
c.194_199del (p.Tyr65_Leu66del)
 ClinVar
1g.21563162A=CA1158014019ALPLc.350A= (p.Tyr117=)
n.410A=
c.119A= (p.Tyr40=)
c.185A= (p.Tyr62=)
c.194A= (p.Tyr65=)
1g.21563162A>CCA338877155ALPLc.350A>C (p.Tyr117Ser)
n.410A>C
c.119A>C (p.Tyr40Ser)
c.185A>C (p.Tyr62Ser)
c.194A>C (p.Tyr65Ser)
1g.21563162A>GCA338877156ALPLc.350A>G (p.Tyr117Cys)
n.410A>G
c.119A>G (p.Tyr40Cys)
c.185A>G (p.Tyr62Cys)
c.194A>G (p.Tyr65Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21563162A>TCA338877157ALPLc.350A>T (p.Tyr117Phe)
n.410A>T
c.119A>T (p.Tyr40Phe)
c.185A>T (p.Tyr62Phe)
c.194A>T (p.Tyr65Phe)
1g.21563163C>ACA338877158ALPLc.351C>A (p.Tyr117Ter)
n.411C>A
c.120C>A (p.Tyr40Ter)
c.186C>A (p.Tyr62Ter)
c.195C>A (p.Tyr65Ter)
1g.21563163C=CA1158014020ALPLc.351C= (p.Tyr117=)
n.411C=
c.120C= (p.Tyr40=)
c.186C= (p.Tyr62=)
c.195C= (p.Tyr65=)
1g.21563163C>GCA338877159ALPLc.351C>G (p.Tyr117Ter)
n.411C>G
c.120C>G (p.Tyr40Ter)
c.186C>G (p.Tyr62Ter)
c.195C>G (p.Tyr65Ter)
 ClinVar
1g.21563163C>TCA19059160ALPLc.351C>T (p.Tyr117=)
n.411C>T
c.120C>T (p.Tyr40=)
c.186C>T (p.Tyr62=)
c.195C>T (p.Tyr65=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.21563164delCA2643930237ALPLc.352del (p.Leu118CysfsTer4)
n.412del
c.121del (p.Leu41CysfsTer4)
c.187del (p.Leu63CysfsTer4)
c.196del (p.Leu66CysfsTer4)
 gnomAD v4
1g.21563164C>ACA338877160ALPLc.352C>A (p.Leu118Met)
n.412C>A
c.121C>A (p.Leu41Met)
c.187C>A (p.Leu63Met)
c.196C>A (p.Leu66Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21563164C=CA1158014021ALPLc.352C= (p.Leu118=)
n.412C=
c.121C= (p.Leu41=)
c.187C= (p.Leu63=)
c.196C= (p.Leu66=)
1g.21563164C>GCA338877161ALPLc.352C>G (p.Leu118Val)
n.412C>G
c.121C>G (p.Leu41Val)
c.187C>G (p.Leu63Val)
c.196C>G (p.Leu66Val)
 dbSNP gnomAD v2 gnomAD v4
1g.21563164C>TCA416525759ALPLc.352C>T (p.Leu118=)
n.412C>T
c.121C>T (p.Leu41=)
c.187C>T (p.Leu63=)
c.196C>T (p.Leu66=)
 ClinVar dbSNP gnomAD v4
1g.21563165T>ACA338877162ALPLc.353T>A (p.Leu118Gln)
n.413T>A
c.122T>A (p.Leu41Gln)
c.188T>A (p.Leu63Gln)
c.197T>A (p.Leu66Gln)
1g.21563165T>CCA338877163ALPLc.353T>C (p.Leu118Pro)
n.413T>C
c.122T>C (p.Leu41Pro)
c.188T>C (p.Leu63Pro)
c.197T>C (p.Leu66Pro)
1g.21563165T>GCA338877164ALPLc.353T>G (p.Leu118Arg)
n.413T>G
c.122T>G (p.Leu41Arg)
c.188T>G (p.Leu63Arg)
c.197T>G (p.Leu66Arg)
1g.21563166G>ACA416525766ALPLc.354G>A (p.Leu118=)
n.414G>A
c.123G>A (p.Leu41=)
c.189G>A (p.Leu63=)
c.198G>A (p.Leu66=)
 ClinVar
1g.21563166G>CCA416525764ALPLc.354G>C (p.Leu118=)
n.414G>C
c.123G>C (p.Leu41=)
c.189G>C (p.Leu63=)
c.198G>C (p.Leu66=)
1g.21563166G>TCA416525768ALPLc.354G>T (p.Leu118=)
n.414G>T
c.123G>T (p.Leu41=)
c.189G>T (p.Leu63=)
c.198G>T (p.Leu66=)
 gnomAD v4
1g.21563167T>ACA338877165ALPLc.355T>A (p.Cys119Ser)
n.415T>A
c.124T>A (p.Cys42Ser)
c.190T>A (p.Cys64Ser)
c.199T>A (p.Cys67Ser)
1g.21563167T>CCA338877166ALPLc.355T>C (p.Cys119Arg)
n.415T>C
c.124T>C (p.Cys42Arg)
c.190T>C (p.Cys64Arg)
c.199T>C (p.Cys67Arg)
 gnomAD v4
1g.21563167T>GCA338877167ALPLc.355T>G (p.Cys119Gly)
n.415T>G
c.124T>G (p.Cys42Gly)
c.190T>G (p.Cys64Gly)
c.199T>G (p.Cys67Gly)
1g.21563168G>ACA338877169ALPLc.356G>A (p.Cys119Tyr)
n.416G>A
c.125G>A (p.Cys42Tyr)
c.191G>A (p.Cys64Tyr)
c.200G>A (p.Cys67Tyr)
1g.21563168G>CCA666465ALPLc.356G>C (p.Cys119Ser)
n.416G>C
c.125G>C (p.Cys42Ser)
c.191G>C (p.Cys64Ser)
c.200G>C (p.Cys67Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563168G=CA1158014022ALPLc.356G= (p.Cys119=)
n.416G=
c.125G= (p.Cys42=)
c.191G= (p.Cys64=)
c.200G= (p.Cys67=)
1g.21563168G>TCA338877168ALPLc.356G>T (p.Cys119Phe)
n.416G>T
c.125G>T (p.Cys42Phe)
c.191G>T (p.Cys64Phe)
c.200G>T (p.Cys67Phe)
1g.21563169T>ACA338877170ALPLc.357T>A (p.Cys119Ter)
n.417T>A
c.126T>A (p.Cys42Ter)
c.192T>A (p.Cys64Ter)
c.201T>A (p.Cys67Ter)
1g.21563169T>CCA416525777ALPLc.357T>C (p.Cys119=)
n.417T>C
c.126T>C (p.Cys42=)
c.192T>C (p.Cys64=)
c.201T>C (p.Cys67=)
1g.21563169T>GCA338877171ALPLc.357T>G (p.Cys119Trp)
n.417T>G
c.126T>G (p.Cys42Trp)
c.192T>G (p.Cys64Trp)
c.201T>G (p.Cys67Trp)
1g.21563169_21563171delinsTGGCA1158014023ALPLc.357_359delinsTGG (p.Cys119=)
n.417_419delinsTGG
c.126_128delinsTGG (p.Cys42=)
c.192_194delinsTGG (p.Cys64=)
c.201_203delinsTGG (p.Cys67=)
1g.21563170G>ACA19059201ALPLc.358G>A (p.Gly120Arg)
n.418G>A
c.127G>A (p.Gly43Arg)
c.193G>A (p.Gly65Arg)
c.202G>A (p.Gly68Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.21563170G>CCA338877172ALPLc.358G>C (p.Gly120Arg)
n.418G>C
c.127G>C (p.Gly43Arg)
c.193G>C (p.Gly65Arg)
c.202G>C (p.Gly68Arg)
1g.21563170G=CA1158014024ALPLc.358G= (p.Gly120=)
n.418G=
c.127G= (p.Gly43=)
c.193G= (p.Gly65=)
c.202G= (p.Gly68=)
1g.21563170G>TCA338877173ALPLc.358G>T (p.Gly120Trp)
n.418G>T
c.127G>T (p.Gly43Trp)
c.193G>T (p.Gly65Trp)
c.202G>T (p.Gly68Trp)
1g.21563172_21563173delCA666466ALPLc.360_361del (p.Val121GlufsTer4)
n.420_421del
c.129_130del (p.Val44GlufsTer4)
c.195_196del (p.Val66GlufsTer4)
c.204_205del (p.Val69GlufsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563171G>ACA338877174ALPLc.359G>A (p.Gly120Glu)
n.419G>A
c.128G>A (p.Gly43Glu)
c.194G>A (p.Gly65Glu)
c.203G>A (p.Gly68Glu)
1g.21563171G>CCA338877175ALPLc.359G>C (p.Gly120Ala)
n.419G>C
c.128G>C (p.Gly43Ala)
c.194G>C (p.Gly65Ala)
c.203G>C (p.Gly68Ala)
1g.21563171G>TCA338877176ALPLc.359G>T (p.Gly120Val)
n.419G>T
c.128G>T (p.Gly43Val)
c.194G>T (p.Gly65Val)
c.203G>T (p.Gly68Val)
1g.21563172G>ACA416525788ALPLc.360G>A (p.Gly120=)
n.420G>A
c.129G>A (p.Gly43=)
c.195G>A (p.Gly65=)
c.204G>A (p.Gly68=)
1g.21563172G>CCA416525786ALPLc.360G>C (p.Gly120=)
n.420G>C
c.129G>C (p.Gly43=)
c.195G>C (p.Gly65=)
c.204G>C (p.Gly68=)
 ClinVar
1g.21563172G>TCA416525790ALPLc.360G>T (p.Gly120=)
n.420G>T
c.129G>T (p.Gly43=)
c.195G>T (p.Gly65=)
c.204G>T (p.Gly68=)
1g.21563173G>ACA338877177ALPLc.361G>A (p.Val121Met)
n.421G>A
c.130G>A (p.Val44Met)
c.196G>A (p.Val66Met)
c.205G>A (p.Val69Met)
 ClinVar dbSNP gnomAD v4
1g.21563173G>CCA338877178ALPLc.361G>C (p.Val121Leu)
n.421G>C
c.130G>C (p.Val44Leu)
c.196G>C (p.Val66Leu)
c.205G>C (p.Val69Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.21563173G=CA1158014025ALPLc.361G= (p.Val121=)
n.421G=
c.130G= (p.Val44=)
c.196G= (p.Val66=)
c.205G= (p.Val69=)
1g.21563173G>TCA338877179ALPLc.361G>T (p.Val121Leu)
n.421G>T
c.130G>T (p.Val44Leu)
c.196G>T (p.Val66Leu)
c.205G>T (p.Val69Leu)
 gnomAD v4
1g.21563174T>ACA338877182ALPLc.362T>A (p.Val121Glu)
n.422T>A
c.131T>A (p.Val44Glu)
c.197T>A (p.Val66Glu)
c.206T>A (p.Val69Glu)
1g.21563174T>CCA338877181ALPLc.362T>C (p.Val121Ala)
n.422T>C
c.131T>C (p.Val44Ala)
c.197T>C (p.Val66Ala)
c.206T>C (p.Val69Ala)
1g.21563174T>GCA338877180ALPLc.362T>G (p.Val121Gly)
n.422T>G
c.131T>G (p.Val44Gly)
c.197T>G (p.Val66Gly)
c.206T>G (p.Val69Gly)
 dbSNP
1g.21563175G>ACA416525798ALPLc.363G>A (p.Val121=)
n.423G>A
c.132G>A (p.Val44=)
c.198G>A (p.Val66=)
c.207G>A (p.Val69=)
1g.21563175G>CCA416525799ALPLc.363G>C (p.Val121=)
n.423G>C
c.132G>C (p.Val44=)
c.198G>C (p.Val66=)
c.207G>C (p.Val69=)
1g.21563175G>TCA416525800ALPLc.363G>T (p.Val121=)
n.423G>T
c.132G>T (p.Val44=)
c.198G>T (p.Val66=)
c.207G>T (p.Val69=)
1g.21563176A>CCA338877185ALPLc.364A>C (p.Lys122Gln)
n.424A>C
c.133A>C (p.Lys45Gln)
c.199A>C (p.Lys67Gln)
c.208A>C (p.Lys70Gln)
1g.21563176A>GCA338877183ALPLc.364A>G (p.Lys122Glu)
n.424A>G
c.133A>G (p.Lys45Glu)
c.199A>G (p.Lys67Glu)
c.208A>G (p.Lys70Glu)
1g.21563176A>TCA338877184ALPLc.364A>T (p.Lys122Ter)
n.424A>T
c.133A>T (p.Lys45Ter)
c.199A>T (p.Lys67Ter)
c.208A>T (p.Lys70Ter)
1g.21563177A>CCA338877186ALPLc.365A>C (p.Lys122Thr)
n.425A>C
c.134A>C (p.Lys45Thr)
c.200A>C (p.Lys67Thr)
c.209A>C (p.Lys70Thr)
1g.21563177A>GCA338877187ALPLc.365A>G (p.Lys122Arg)
n.425A>G
c.134A>G (p.Lys45Arg)
c.200A>G (p.Lys67Arg)
c.209A>G (p.Lys70Arg)
1g.21563177A>TCA338877188ALPLc.365A>T (p.Lys122Met)
n.425A>T
c.134A>T (p.Lys45Met)
c.200A>T (p.Lys67Met)
c.209A>T (p.Lys70Met)
1g.21563178G>ACA416525801ALPLc.366G>A (p.Lys122=)
n.426G>A
c.135G>A (p.Lys45=)
c.201G>A (p.Lys67=)
c.210G>A (p.Lys70=)
1g.21563178G>CCA338877189ALPLc.366G>C (p.Lys122Asn)
n.426G>C
c.135G>C (p.Lys45Asn)
c.201G>C (p.Lys67Asn)
c.210G>C (p.Lys70Asn)
1g.21563178G>TCA338877190ALPLc.366G>T (p.Lys122Asn)
n.426G>T
c.135G>T (p.Lys45Asn)
c.201G>T (p.Lys67Asn)
c.210G>T (p.Lys70Asn)
1g.21563179G>ACA338877191ALPLc.367G>A (p.Ala123Thr)
n.427G>A
c.136G>A (p.Ala46Thr)
c.202G>A (p.Ala68Thr)
c.211G>A (p.Ala71Thr)
1g.21563179G>CCA338877192ALPLc.367G>C (p.Ala123Pro)
n.427G>C
c.136G>C (p.Ala46Pro)
c.202G>C (p.Ala68Pro)
c.211G>C (p.Ala71Pro)
1g.21563179G>TCA338877193ALPLc.367G>T (p.Ala123Ser)
n.427G>T
c.136G>T (p.Ala46Ser)
c.202G>T (p.Ala68Ser)
c.211G>T (p.Ala71Ser)
1g.21563180C>ACA338877194ALPLc.368C>A (p.Ala123Asp)
n.428C>A
c.137C>A (p.Ala46Asp)
c.203C>A (p.Ala68Asp)
c.212C>A (p.Ala71Asp)
 ClinVar dbSNP gnomAD v4
1g.21563180C=CA1158014026ALPLc.368C= (p.Ala123=)
n.428C=
c.137C= (p.Ala46=)
c.203C= (p.Ala68=)
c.212C= (p.Ala71=)
1g.21563180C>GCA338877195ALPLc.368C>G (p.Ala123Gly)
n.428C>G
c.137C>G (p.Ala46Gly)
c.203C>G (p.Ala68Gly)
c.212C>G (p.Ala71Gly)
1g.21563180C>TCA338877196ALPLc.368C>T (p.Ala123Val)
n.428C>T
c.137C>T (p.Ala46Val)
c.203C>T (p.Ala68Val)
c.212C>T (p.Ala71Val)
1g.21563181C>ACA666467ALPLc.369C>A (p.Ala123=)
n.429C>A
c.138C>A (p.Ala46=)
c.204C>A (p.Ala68=)
c.213C>A (p.Ala71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21563181C=CA1143476223ALPLc.369C= (p.Ala123=)
n.429C=
c.138C= (p.Ala46=)
c.204C= (p.Ala68=)
c.213C= (p.Ala71=)
1g.21563181C>GCA416525803ALPLc.369C>G (p.Ala123=)
n.429C>G
c.138C>G (p.Ala46=)
c.204C>G (p.Ala68=)
c.213C>G (p.Ala71=)
1g.21563181C>TCA416525802ALPLc.369C>T (p.Ala123=)
n.429C>T
c.138C>T (p.Ala46=)
c.204C>T (p.Ala68=)
c.213C>T (p.Ala71=)
1g.21563182A>CCA338877199ALPLc.370A>C (p.Asn124His)
n.430A>C
c.139A>C (p.Asn47His)
c.205A>C (p.Asn69His)
c.214A>C (p.Asn72His)
1g.21563182A>GCA338877198ALPLc.370A>G (p.Asn124Asp)
n.430A>G
c.139A>G (p.Asn47Asp)
c.205A>G (p.Asn69Asp)
c.214A>G (p.Asn72Asp)
 ClinVar
1g.21563182A>TCA338877197ALPLc.370A>T (p.Asn124Tyr)
n.430A>T
c.139A>T (p.Asn47Tyr)
c.205A>T (p.Asn69Tyr)
c.214A>T (p.Asn72Tyr)
1g.21563183A=CA1140275847ALPLc.371A= (p.Asn124=)
n.431A=
c.140A= (p.Asn47=)
c.206A= (p.Asn69=)
c.215A= (p.Asn72=)
1g.21563183A>CCA338877200ALPLc.371A>C (p.Asn124Thr)
n.431A>C
c.140A>C (p.Asn47Thr)
c.206A>C (p.Asn69Thr)
c.215A>C (p.Asn72Thr)
1g.21563183A>GCA666468ALPLc.371A>G (p.Asn124Ser)
n.431A>G
c.140A>G (p.Asn47Ser)
c.206A>G (p.Asn69Ser)
c.215A>G (p.Asn72Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563183A>TCA338877201ALPLc.371A>T (p.Asn124Ile)
n.431A>T
c.140A>T (p.Asn47Ile)
c.206A>T (p.Asn69Ile)
c.215A>T (p.Asn72Ile)
1g.21563184T>ACA338877202ALPLc.372T>A (p.Asn124Lys)
n.432T>A
c.141T>A (p.Asn47Lys)
c.207T>A (p.Asn69Lys)
c.216T>A (p.Asn72Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.21563184T>CCA416525804ALPLc.372T>C (p.Asn124=)
n.432T>C
c.141T>C (p.Asn47=)
c.207T>C (p.Asn69=)
c.216T>C (p.Asn72=)
 gnomAD v4
1g.21563184T>GCA338877203ALPLc.372T>G (p.Asn124Lys)
n.432T>G
c.141T>G (p.Asn47Lys)
c.207T>G (p.Asn69Lys)
c.216T>G (p.Asn72Lys)
1g.21563184T=CA1158014027ALPLc.372T= (p.Asn124=)
n.432T=
c.141T= (p.Asn47=)
c.207T= (p.Asn69=)
c.216T= (p.Asn72=)
1g.21563185G>ACA338877204ALPLc.373G>A (p.Glu125Lys)
n.433G>A
c.142G>A (p.Glu48Lys)
c.208G>A (p.Glu70Lys)
c.217G>A (p.Glu73Lys)
 gnomAD v4
1g.21563185G>CCA338877205ALPLc.373G>C (p.Glu125Gln)
n.433G>C
c.142G>C (p.Glu48Gln)
c.208G>C (p.Glu70Gln)
c.217G>C (p.Glu73Gln)
1g.21563185G>TCA338877206ALPLc.373G>T (p.Glu125Ter)
n.433G>T
c.142G>T (p.Glu48Ter)
c.208G>T (p.Glu70Ter)
c.217G>T (p.Glu73Ter)
1g.21563186A>CCA338877207ALPLc.374A>C (p.Glu125Ala)
n.434A>C
c.143A>C (p.Glu48Ala)
c.209A>C (p.Glu70Ala)
c.218A>C (p.Glu73Ala)
1g.21563186A>GCA338877208ALPLc.374A>G (p.Glu125Gly)
n.434A>G
c.143A>G (p.Glu48Gly)
c.209A>G (p.Glu70Gly)
c.218A>G (p.Glu73Gly)
 COSMIC
1g.21563186A>TCA338877209ALPLc.374A>T (p.Glu125Val)
n.434A>T
c.143A>T (p.Glu48Val)
c.209A>T (p.Glu70Val)
c.218A>T (p.Glu73Val)
1g.21563187G>ACA666469ALPLc.375G>A (p.Glu125=)
n.435G>A
c.144G>A (p.Glu48=)
c.210G>A (p.Glu70=)
c.219G>A (p.Glu73=)
 ClinVar dbSNP ExAC
1g.21563187G>CCA338877210ALPLc.375G>C (p.Glu125Asp)
n.435G>C
c.144G>C (p.Glu48Asp)
c.210G>C (p.Glu70Asp)
c.219G>C (p.Glu73Asp)
1g.21563187G=CA1158014028ALPLc.375G= (p.Glu125=)
n.435G=
c.144G= (p.Glu48=)
c.210G= (p.Glu70=)
c.219G= (p.Glu73=)
1g.21563187G>TCA338877211ALPLc.375G>T (p.Glu125Asp)
n.435G>T
c.144G>T (p.Glu48Asp)
c.210G>T (p.Glu70Asp)
c.219G>T (p.Glu73Asp)
1g.21563189delCA2742768339ALPLc.377del (p.Gly126AlafsTer5)
n.437del
c.146del (p.Gly49AlafsTer5)
c.212del (p.Gly71AlafsTer5)
c.221del (p.Gly74AlafsTer5)
1g.21563188G>ACA338877214ALPLc.376G>A (p.Gly126Ser)
n.436G>A
c.145G>A (p.Gly49Ser)
c.211G>A (p.Gly71Ser)
c.220G>A (p.Gly74Ser)
1g.21563188G>CCA338877213ALPLc.376G>C (p.Gly126Arg)
n.436G>C
c.145G>C (p.Gly49Arg)
c.211G>C (p.Gly71Arg)
c.220G>C (p.Gly74Arg)
1g.21563188G>TCA338877212ALPLc.376G>T (p.Gly126Cys)
n.436G>T
c.145G>T (p.Gly49Cys)
c.211G>T (p.Gly71Cys)
c.220G>T (p.Gly74Cys)
1g.21563189G>ACA338877215ALPLc.377G>A (p.Gly126Asp)
n.437G>A
c.146G>A (p.Gly49Asp)
c.212G>A (p.Gly71Asp)
c.221G>A (p.Gly74Asp)
1g.21563189G>CCA338877216ALPLc.377G>C (p.Gly126Ala)
n.437G>C
c.146G>C (p.Gly49Ala)
c.212G>C (p.Gly71Ala)
c.221G>C (p.Gly74Ala)
1g.21563189G>TCA338877217ALPLc.377G>T (p.Gly126Val)
n.437G>T
c.146G>T (p.Gly49Val)
c.212G>T (p.Gly71Val)
c.221G>T (p.Gly74Val)
1g.21563190C>ACA416525806ALPLc.378C>A (p.Gly126=)
n.438C>A
c.147C>A (p.Gly49=)
c.213C>A (p.Gly71=)
c.222C>A (p.Gly74=)
1g.21563190C>GCA416525805ALPLc.378C>G (p.Gly126=)
n.438C>G
c.147C>G (p.Gly49=)
c.213C>G (p.Gly71=)
c.222C>G (p.Gly74=)
1g.21563190C>TCA416525807ALPLc.378C>T (p.Gly126=)
n.438C>T
c.147C>T (p.Gly49=)
c.213C>T (p.Gly71=)
c.222C>T (p.Gly74=)
1g.21563191A=CA1158014029ALPLc.379A= (p.Thr127=)
n.439A=
c.148A= (p.Thr50=)
c.214A= (p.Thr72=)
c.223A= (p.Thr75=)
1g.21563191A>CCA338877218ALPLc.379A>C (p.Thr127Pro)
n.439A>C
c.148A>C (p.Thr50Pro)
c.214A>C (p.Thr72Pro)
c.223A>C (p.Thr75Pro)
1g.21563191A>GCA338877219ALPLc.379A>G (p.Thr127Ala)
n.439A>G
c.148A>G (p.Thr50Ala)
c.214A>G (p.Thr72Ala)
c.223A>G (p.Thr75Ala)
 ClinVar dbSNP gnomAD v4
1g.21563191A>TCA338877220ALPLc.379A>T (p.Thr127Ser)
n.439A>T
c.148A>T (p.Thr50Ser)
c.214A>T (p.Thr72Ser)
c.223A>T (p.Thr75Ser)
1g.21563192C>ACA19059239ALPLc.380C>A (p.Thr127Asn)
n.440C>A
c.149C>A (p.Thr50Asn)
c.215C>A (p.Thr72Asn)
c.224C>A (p.Thr75Asn)
 ClinVar dbSNP gnomAD v4
1g.21563192C=CA1142120615ALPLc.380C= (p.Thr127=)
n.440C=
c.149C= (p.Thr50=)
c.215C= (p.Thr72=)
c.224C= (p.Thr75=)
1g.21563192C>GCA338877221ALPLc.380C>G (p.Thr127Ser)
n.440C>G
c.149C>G (p.Thr50Ser)
c.215C>G (p.Thr72Ser)
c.224C>G (p.Thr75Ser)
1g.21563192C>TCA338877222ALPLc.380C>T (p.Thr127Ile)
n.440C>T
c.149C>T (p.Thr50Ile)
c.215C>T (p.Thr72Ile)
c.224C>T (p.Thr75Ile)
1g.21563193C>ACA416525809ALPLc.381C>A (p.Thr127=)
n.441C>A
c.150C>A (p.Thr50=)
c.216C>A (p.Thr72=)
c.225C>A (p.Thr75=)
 gnomAD v4
1g.21563193C=CA1143614843ALPLc.381C= (p.Thr127=)
n.441C=
c.150C= (p.Thr50=)
c.216C= (p.Thr72=)
c.225C= (p.Thr75=)
1g.21563193C>GCA416525808ALPLc.381C>G (p.Thr127=)
n.441C>G
c.150C>G (p.Thr50=)
c.216C>G (p.Thr72=)
c.225C>G (p.Thr75=)
 dbSNP gnomAD v2 gnomAD v4
1g.21563193C>TCA666470ALPLc.381C>T (p.Thr127=)
n.441C>T
c.150C>T (p.Thr50=)
c.216C>T (p.Thr72=)
c.225C>T (p.Thr75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21563194G>ACA338877223ALPLc.382G>A (p.Val128Met)
n.442G>A
c.151G>A (p.Val51Met)
c.217G>A (p.Val73Met)
c.226G>A (p.Val76Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21563194G>CCA338877224ALPLc.382G>C (p.Val128Leu)
n.442G>C
c.151G>C (p.Val51Leu)
c.217G>C (p.Val73Leu)
c.226G>C (p.Val76Leu)
1g.21563194G=CA1158014030ALPLc.382G= (p.Val128=)
n.442G=
c.151G= (p.Val51=)
c.217G= (p.Val73=)
c.226G= (p.Val76=)
1g.21563194G>TCA338877225ALPLc.382G>T (p.Val128Leu)
n.442G>T
c.151G>T (p.Val51Leu)
c.217G>T (p.Val73Leu)
c.226G>T (p.Val76Leu)
1g.21563195T>ACA338877228ALPLc.383T>A (p.Val128Glu)
n.443T>A
c.152T>A (p.Val51Glu)
c.218T>A (p.Val73Glu)
c.227T>A (p.Val76Glu)
1g.21563195T>CCA338877227ALPLc.383T>C (p.Val128Ala)
n.443T>C
c.152T>C (p.Val51Ala)
c.218T>C (p.Val73Ala)
c.227T>C (p.Val76Ala)
1g.21563195T>GCA338877226ALPLc.383T>G (p.Val128Gly)
n.443T>G
c.152T>G (p.Val51Gly)
c.218T>G (p.Val73Gly)
c.227T>G (p.Val76Gly)
1g.21563195T=CA1158014031ALPLc.383T= (p.Val128=)
n.443T=
c.152T= (p.Val51=)
c.218T= (p.Val73=)
c.227T= (p.Val76=)
1g.21563195dupCA2643930238ALPLc.383dup (p.Val130GlyfsTer6)
n.443dup
c.152dup (p.Val53GlyfsTer6)
c.218dup (p.Val75GlyfsTer6)
c.227dup (p.Val78GlyfsTer6)
 gnomAD v4
1g.21563196G>ACA416525815ALPLc.384G>A (p.Val128=)
n.444G>A
c.153G>A (p.Val51=)
c.219G>A (p.Val73=)
c.228G>A (p.Val76=)
 dbSNP gnomAD v4
1g.21563196G>CCA666471ALPLc.384G>C (p.Val128=)
n.444G>C
c.153G>C (p.Val51=)
c.219G>C (p.Val73=)
c.228G>C (p.Val76=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563196G=CA1158014033ALPLc.384G= (p.Val128=)
n.444G=
c.153G= (p.Val51=)
c.219G= (p.Val73=)
c.228G= (p.Val76=)
1g.21563196G>TCA416525813ALPLc.384G>T (p.Val128=)
n.444G>T
c.153G>T (p.Val51=)
c.219G>T (p.Val73=)
c.228G>T (p.Val76=)
 ClinVar dbSNP gnomAD v4
1g.21563200dupCA1158014032ALPLc.388dup (p.Val130GlyfsTer6)
n.448dup
c.157dup (p.Val53GlyfsTer6)
c.223dup (p.Val75GlyfsTer6)
c.232dup (p.Val78GlyfsTer6)
 ClinVar dbSNP
1g.21563200delCA2697552240ALPLc.388del (p.Val130Ter)
n.448del
c.157del (p.Val53Ter)
c.223del (p.Val75Ter)
c.232del (p.Val78Ter)
 ClinVar
1g.21563197G>ACA338877229ALPLc.385G>A (p.Gly129Arg)
n.445G>A
c.154G>A (p.Gly52Arg)
c.220G>A (p.Gly74Arg)
c.229G>A (p.Gly77Arg)
 ClinVar gnomAD v4
1g.21563197G>CCA338877230ALPLc.385G>C (p.Gly129Arg)
n.445G>C
c.154G>C (p.Gly52Arg)
c.220G>C (p.Gly74Arg)
c.229G>C (p.Gly77Arg)
1g.21563197G=CA1158014034ALPLc.385G= (p.Gly129=)
n.445G=
c.154G= (p.Gly52=)
c.220G= (p.Gly74=)
c.229G= (p.Gly77=)
1g.21563197G>TCA338877231ALPLc.385G>T (p.Gly129Trp)
n.445G>T
c.154G>T (p.Gly52Trp)
c.220G>T (p.Gly74Trp)
c.229G>T (p.Gly77Trp)
 dbSNP COSMIC
1g.21563198G>ACA338877232ALPLc.386G>A (p.Gly129Glu)
n.446G>A
c.155G>A (p.Gly52Glu)
c.221G>A (p.Gly74Glu)
c.230G>A (p.Gly77Glu)
 ClinVar COSMIC
1g.21563198G>CCA338877233ALPLc.386G>C (p.Gly129Ala)
n.446G>C
c.155G>C (p.Gly52Ala)
c.221G>C (p.Gly74Ala)
c.230G>C (p.Gly77Ala)
1g.21563198G>TCA338877234ALPLc.386G>T (p.Gly129Val)
n.446G>T
c.155G>T (p.Gly52Val)
c.221G>T (p.Gly74Val)
c.230G>T (p.Gly77Val)
1g.21563199G>ACA416525823ALPLc.387G>A (p.Gly129=)
n.447G>A
c.156G>A (p.Gly52=)
c.222G>A (p.Gly74=)
c.231G>A (p.Gly77=)
 dbSNP gnomAD v4
1g.21563199G>CCA416525825ALPLc.387G>C (p.Gly129=)
n.447G>C
c.156G>C (p.Gly52=)
c.222G>C (p.Gly74=)
c.231G>C (p.Gly77=)
1g.21563199G=CA1158014035ALPLc.387G= (p.Gly129=)
n.447G=
c.156G= (p.Gly52=)
c.222G= (p.Gly74=)
c.231G= (p.Gly77=)
1g.21563199G>TCA416525826ALPLc.387G>T (p.Gly129=)
n.447G>T
c.156G>T (p.Gly52=)
c.222G>T (p.Gly74=)
c.231G>T (p.Gly77=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21563200G>ACA666472ALPLc.388G>A (p.Val130Ile)
n.448G>A
c.157G>A (p.Val53Ile)
c.223G>A (p.Val75Ile)
c.232G>A (p.Val78Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563200G>CCA338877235ALPLc.388G>C (p.Val130Leu)
n.448G>C
c.157G>C (p.Val53Leu)
c.223G>C (p.Val75Leu)
c.232G>C (p.Val78Leu)
1g.21563200G=CA1158014036ALPLc.388G= (p.Val130=)
n.448G=
c.157G= (p.Val53=)
c.223G= (p.Val75=)
c.232G= (p.Val78=)
1g.21563200G>TCA338877236ALPLc.388G>T (p.Val130Leu)
n.448G>T
c.157G>T (p.Val53Leu)
c.223G>T (p.Val75Leu)
c.232G>T (p.Val78Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.21563201_21563204delCA2586964022ALPLc.389_392del (p.Val130AlafsTer?)
n.449_452del
c.158_161del (p.Val53AlafsTer?)
c.224_227del (p.Val75AlafsTer?)
c.233_236del (p.Val78AlafsTer?)
1g.21563201delCA416525834ALPLc.389del (p.Val130GlufsTer?)
n.449del
c.158del (p.Val53GlufsTer?)
c.224del (p.Val75GlufsTer?)
c.233del (p.Val78GlufsTer?)
 gnomAD v4
1g.21563201T>ACA338877237ALPLc.389T>A (p.Val130Glu)
n.449T>A
c.158T>A (p.Val53Glu)
c.224T>A (p.Val75Glu)
c.233T>A (p.Val78Glu)
1g.21563201T>CCA338877238ALPLc.389T>C (p.Val130Ala)
n.449T>C
c.158T>C (p.Val53Ala)
c.224T>C (p.Val75Ala)
c.233T>C (p.Val78Ala)
1g.21563201T>GCA338877239ALPLc.389T>G (p.Val130Gly)
n.449T>G
c.158T>G (p.Val53Gly)
c.224T>G (p.Val75Gly)
c.233T>G (p.Val78Gly)
 dbSNP
1g.21563201T=CA1158014037ALPLc.389T= (p.Val130=)
n.449T=
c.158T= (p.Val53=)
c.224T= (p.Val75=)
c.233T= (p.Val78=)
1g.21563202A>CCA416525838ALPLc.390A>C (p.Val130=)
n.450A>C
c.159A>C (p.Val53=)
c.225A>C (p.Val75=)
c.234A>C (p.Val78=)
 ClinVar
1g.21563202A>GCA416525839ALPLc.390A>G (p.Val130=)
n.450A>G
c.159A>G (p.Val53=)
c.225A>G (p.Val75=)
c.234A>G (p.Val78=)
1g.21563202A>TCA416525837ALPLc.390A>T (p.Val130=)
n.450A>T
c.159A>T (p.Val53=)
c.225A>T (p.Val75=)
c.234A>T (p.Val78=)
1g.21563203A>CCA338877242ALPLc.391A>C (p.Ser131Arg)
n.451A>C
c.160A>C (p.Ser54Arg)
c.226A>C (p.Ser76Arg)
c.235A>C (p.Ser79Arg)
1g.21563203A>GCA338877241ALPLc.391A>G (p.Ser131Gly)
n.451A>G
c.160A>G (p.Ser54Gly)
c.226A>G (p.Ser76Gly)
c.235A>G (p.Ser79Gly)
1g.21563203A>TCA338877240ALPLc.391A>T (p.Ser131Cys)
n.451A>T
c.160A>T (p.Ser54Cys)
c.226A>T (p.Ser76Cys)
c.235A>T (p.Ser79Cys)
1g.21563203_21563204delCA913072869ALPLc.391_392del (p.Ser131ArgfsTer4)
n.451_452del
c.160_161del (p.Ser54ArgfsTer4)
c.226_227del (p.Ser76ArgfsTer4)
c.235_236del (p.Ser79ArgfsTer4)
1g.21563203_21563204delinsAGCA1158014038ALPLc.391_392delinsAG (p.Ser131=)
n.451_452delinsAG
c.160_161delinsAG (p.Ser54=)
c.226_227delinsAG (p.Ser76=)
c.235_236delinsAG (p.Ser79=)
1g.21563204delCA658820985ALPLc.392del (p.Ser131ThrfsTer?)
n.452del
c.161del (p.Ser54ThrfsTer?)
c.227del (p.Ser76ThrfsTer?)
c.236del (p.Ser79ThrfsTer?)
 ClinVar dbSNP
1g.21563204G>ACA338877243ALPLc.392G>A (p.Ser131Asn)
n.452G>A
c.161G>A (p.Ser54Asn)
c.227G>A (p.Ser76Asn)
c.236G>A (p.Ser79Asn)
1g.21563204G>CCA338877245ALPLc.392G>C (p.Ser131Thr)
n.452G>C
c.161G>C (p.Ser54Thr)
c.227G>C (p.Ser76Thr)
c.236G>C (p.Ser79Thr)
1g.21563204G>TCA338877244ALPLc.392G>T (p.Ser131Ile)
n.452G>T
c.161G>T (p.Ser54Ile)
c.227G>T (p.Ser76Ile)
c.236G>T (p.Ser79Ile)
1g.21563205C>ACA338877246ALPLc.393C>A (p.Ser131Arg)
n.453C>A
c.162C>A (p.Ser54Arg)
c.228C>A (p.Ser76Arg)
c.237C>A (p.Ser79Arg)
1g.21563205C>GCA338877247ALPLc.393C>G (p.Ser131Arg)
n.453C>G
c.162C>G (p.Ser54Arg)
c.228C>G (p.Ser76Arg)
c.237C>G (p.Ser79Arg)
1g.21563205C>TCA416525849ALPLc.393C>T (p.Ser131=)
n.453C>T
c.162C>T (p.Ser54=)
c.228C>T (p.Ser76=)
c.237C>T (p.Ser79=)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.21563206delCA2580061455ALPLc.394del (p.Ala132GlnfsTer?)
n.454del
c.163del (p.Ala55GlnfsTer?)
c.229del (p.Ala77GlnfsTer?)
c.238del (p.Ala80GlnfsTer?)
 ClinVar
1g.21563206G>ACA666473ALPLc.394G>A (p.Ala132Thr)
n.454G>A
c.163G>A (p.Ala55Thr)
c.229G>A (p.Ala77Thr)
c.238G>A (p.Ala80Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563206G>CCA338877248ALPLc.394G>C (p.Ala132Pro)
n.454G>C
c.163G>C (p.Ala55Pro)
c.229G>C (p.Ala77Pro)
c.238G>C (p.Ala80Pro)
1g.21563206G=CA1158014039ALPLc.394G= (p.Ala132=)
n.454G=
c.163G= (p.Ala55=)
c.229G= (p.Ala77=)
c.238G= (p.Ala80=)
1g.21563206G>TCA338877249ALPLc.394G>T (p.Ala132Ser)
n.454G>T
c.163G>T (p.Ala55Ser)
c.229G>T (p.Ala77Ser)
c.238G>T (p.Ala80Ser)
 gnomAD v4
1g.21563207C>ACA338877250ALPLc.395C>A (p.Ala132Glu)
n.455C>A
c.164C>A (p.Ala55Glu)
c.230C>A (p.Ala77Glu)
c.239C>A (p.Ala80Glu)
1g.21563207C=CA1158014040ALPLc.395C= (p.Ala132=)
n.455C=
c.164C= (p.Ala55=)
c.230C= (p.Ala77=)
c.239C= (p.Ala80=)
1g.21563207C>GCA338877251ALPLc.395C>G (p.Ala132Gly)
n.455C>G
c.164C>G (p.Ala55Gly)
c.230C>G (p.Ala77Gly)
c.239C>G (p.Ala80Gly)
 ClinVar dbSNP
1g.21563207C>TCA338877252ALPLc.395C>T (p.Ala132Val)
n.455C>T
c.164C>T (p.Ala55Val)
c.230C>T (p.Ala77Val)
c.239C>T (p.Ala80Val)
 ClinVar dbSNP
1g.21563208A>CCA416525861ALPLc.396A>C (p.Ala132=)
n.456A>C
c.165A>C (p.Ala55=)
c.231A>C (p.Ala77=)
c.240A>C (p.Ala80=)
1g.21563208A>GCA416525858ALPLc.396A>G (p.Ala132=)
n.456A>G
c.165A>G (p.Ala55=)
c.231A>G (p.Ala77=)
c.240A>G (p.Ala80=)
 gnomAD v4
1g.21563208A>TCA416525860ALPLc.396A>T (p.Ala132=)
n.456A>T
c.165A>T (p.Ala55=)
c.231A>T (p.Ala77=)
c.240A>T (p.Ala80=)
1g.21563209G>ACA338877253ALPLc.397G>A (p.Ala133Thr)
n.457G>A
c.166G>A (p.Ala56Thr)
c.232G>A (p.Ala78Thr)
c.241G>A (p.Ala81Thr)
 dbSNP gnomAD v4 COSMIC
1g.21563209G>CCA338877254ALPLc.397G>C (p.Ala133Pro)
n.457G>C
c.166G>C (p.Ala56Pro)
c.232G>C (p.Ala78Pro)
c.241G>C (p.Ala81Pro)
1g.21563209G=CA1158014041ALPLc.397G= (p.Ala133=)
n.457G=
c.166G= (p.Ala56=)
c.232G= (p.Ala78=)
c.241G= (p.Ala81=)
1g.21563209G>TCA338877255ALPLc.397G>T (p.Ala133Ser)
n.457G>T
c.166G>T (p.Ala56Ser)
c.232G>T (p.Ala78Ser)
c.241G>T (p.Ala81Ser)
1g.21563210C>ACA338877256ALPLc.398C>A (p.Ala133Asp)
n.458C>A
c.167C>A (p.Ala56Asp)
c.233C>A (p.Ala78Asp)
c.242C>A (p.Ala81Asp)
1g.21563210C=CA1142673400ALPLc.398C= (p.Ala133=)
n.458C=
c.167C= (p.Ala56=)
c.233C= (p.Ala78=)
c.242C= (p.Ala81=)
1g.21563210C>GCA245945ALPLc.398C>G (p.Ala133Gly)
n.458C>G
c.167C>G (p.Ala56Gly)
c.233C>G (p.Ala78Gly)
c.242C>G (p.Ala81Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563210C>TCA338877257ALPLc.398C>T (p.Ala133Val)
n.458C>T
c.167C>T (p.Ala56Val)
c.233C>T (p.Ala78Val)
c.242C>T (p.Ala81Val)
1g.21563211C>ACA416525872ALPLc.399C>A (p.Ala133=)
n.459C>A
c.168C>A (p.Ala56=)
c.234C>A (p.Ala78=)
c.243C>A (p.Ala81=)
1g.21563211C=CA1158014042ALPLc.399C= (p.Ala133=)
n.459C=
c.168C= (p.Ala56=)
c.234C= (p.Ala78=)
c.243C= (p.Ala81=)
1g.21563211C>GCA416525871ALPLc.399C>G (p.Ala133=)
n.459C>G
c.168C>G (p.Ala56=)
c.234C>G (p.Ala78=)
c.243C>G (p.Ala81=)
1g.21563211C>TCA666474ALPLc.399C>T (p.Ala133=)
n.459C>T
c.168C>T (p.Ala56=)
c.234C>T (p.Ala78=)
c.243C>T (p.Ala81=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563212A=CA1158014043ALPLc.400A= (p.Thr134=)
n.460A=
c.169A= (p.Thr57=)
c.235A= (p.Thr79=)
c.244A= (p.Thr82=)
1g.21563212A>CCA666475ALPLc.400A>C (p.Thr134Pro)
n.460A>C
c.169A>C (p.Thr57Pro)
c.235A>C (p.Thr79Pro)
c.244A>C (p.Thr82Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563212A>GCA338877258ALPLc.400A>G (p.Thr134Ala)
n.460A>G
c.169A>G (p.Thr57Ala)
c.235A>G (p.Thr79Ala)
c.244A>G (p.Thr82Ala)
 gnomAD v4
1g.21563212A>TCA338877259ALPLc.400A>T (p.Thr134Ser)
n.460A>T
c.169A>T (p.Thr57Ser)
c.235A>T (p.Thr79Ser)
c.244A>T (p.Thr82Ser)
1g.21563212_21563213delinsACCA1158014044ALPLc.400_401delinsAC (p.Thr134=)
n.460_461delinsAC
c.169_170delinsAC (p.Thr57=)
c.235_236delinsAC (p.Thr79=)
c.244_245delinsAC (p.Thr82=)
1g.21563212_21563213delinsCACA274069ALPLc.400_401delinsCA (p.Thr134His)
n.460_461delinsCA
c.169_170delinsCA (p.Thr57His)
c.235_236delinsCA (p.Thr79His)
c.244_245delinsCA (p.Thr82His)
 ClinVar dbSNP
1g.21563213C>ACA666476ALPLc.401C>A (p.Thr134Asn)
n.461C>A
c.170C>A (p.Thr57Asn)
c.236C>A (p.Thr79Asn)
c.245C>A (p.Thr82Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563213C=CA1158014045ALPLc.401C= (p.Thr134=)
n.461C=
c.170C= (p.Thr57=)
c.236C= (p.Thr79=)
c.245C= (p.Thr82=)
1g.21563213C>GCA338877260ALPLc.401C>G (p.Thr134Ser)
n.461C>G
c.170C>G (p.Thr57Ser)
c.236C>G (p.Thr79Ser)
c.245C>G (p.Thr82Ser)
1g.21563213C>TCA338877261ALPLc.401C>T (p.Thr134Ile)
n.461C>T
c.170C>T (p.Thr57Ile)
c.236C>T (p.Thr79Ile)
c.245C>T (p.Thr82Ile)
1g.21563214T>ACA416525885ALPLc.402T>A (p.Thr134=)
n.462T>A
c.171T>A (p.Thr57=)
c.237T>A (p.Thr79=)
c.246T>A (p.Thr82=)
1g.21563214T>CCA416525883ALPLc.402T>C (p.Thr134=)
n.462T>C
c.171T>C (p.Thr57=)
c.237T>C (p.Thr79=)
c.246T>C (p.Thr82=)
1g.21563214T>GCA416525886ALPLc.402T>G (p.Thr134=)
n.462T>G
c.171T>G (p.Thr57=)
c.237T>G (p.Thr79=)
c.246T>G (p.Thr82=)
1g.21563215G>ACA338877262ALPLc.403G>A (p.Glu135Lys)
n.463G>A
c.172G>A (p.Glu58Lys)
c.238G>A (p.Glu80Lys)
c.247G>A (p.Glu83Lys)
1g.21563215G>CCA338877263ALPLc.403G>C (p.Glu135Gln)
n.463G>C
c.172G>C (p.Glu58Gln)
c.238G>C (p.Glu80Gln)
c.247G>C (p.Glu83Gln)
1g.21563215G>TCA338877264ALPLc.403G>T (p.Glu135Ter)
n.463G>T
c.172G>T (p.Glu58Ter)
c.238G>T (p.Glu80Ter)
c.247G>T (p.Glu83Ter)
1g.21563216A>CCA338877265ALPLc.404A>C (p.Glu135Ala)
n.464A>C
c.173A>C (p.Glu58Ala)
c.239A>C (p.Glu80Ala)
c.248A>C (p.Glu83Ala)
1g.21563216A>GCA338877266ALPLc.404A>G (p.Glu135Gly)
n.464A>G
c.173A>G (p.Glu58Gly)
c.239A>G (p.Glu80Gly)
c.248A>G (p.Glu83Gly)
1g.21563216A>TCA338877267ALPLc.404A>T (p.Glu135Val)
n.464A>T
c.173A>T (p.Glu58Val)
c.239A>T (p.Glu80Val)
c.248A>T (p.Glu83Val)
1g.21563217G>ACA416525896ALPLc.405G>A (p.Glu135=)
n.465G>A
c.174G>A (p.Glu58=)
c.240G>A (p.Glu80=)
c.249G>A (p.Glu83=)
 dbSNP gnomAD v2 gnomAD v4
1g.21563217G>CCA338877268ALPLc.405G>C (p.Glu135Asp)
n.465G>C
c.174G>C (p.Glu58Asp)
c.240G>C (p.Glu80Asp)
c.249G>C (p.Glu83Asp)
1g.21563217G=CA1158014046ALPLc.405G= (p.Glu135=)
n.465G=
c.174G= (p.Glu58=)
c.240G= (p.Glu80=)
c.249G= (p.Glu83=)
1g.21563217G>TCA338877269ALPLc.405G>T (p.Glu135Asp)
n.465G>T
c.174G>T (p.Glu58Asp)
c.240G>T (p.Glu80Asp)
c.249G>T (p.Glu83Asp)
1g.21563218C>ACA666478ALPLc.406C>A (p.Arg136Ser)
n.466C>A
c.175C>A (p.Arg59Ser)
c.241C>A (p.Arg81Ser)
c.250C>A (p.Arg84Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563218C=CA1148560550ALPLc.406C= (p.Arg136=)
n.466C=
c.175C= (p.Arg59=)
c.241C= (p.Arg81=)
c.250C= (p.Arg84=)
1g.21563218C>GCA338877270ALPLc.406C>G (p.Arg136Gly)
n.466C>G
c.175C>G (p.Arg59Gly)
c.241C>G (p.Arg81Gly)
c.250C>G (p.Arg84Gly)
1g.21563218C>TCA666477ALPLc.406C>T (p.Arg136Cys)
n.466C>T
c.175C>T (p.Arg59Cys)
c.241C>T (p.Arg81Cys)
c.250C>T (p.Arg84Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21563219G>ACA256932ALPLc.407G>A (p.Arg136His)
n.467G>A
c.176G>A (p.Arg59His)
c.242G>A (p.Arg81His)
c.251G>A (p.Arg84His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563219G>CCA338877271ALPLc.407G>C (p.Arg136Pro)
n.467G>C
c.176G>C (p.Arg59Pro)
c.242G>C (p.Arg81Pro)
c.251G>C (p.Arg84Pro)
 ClinVar dbSNP
1g.21563219G=CA1141580635ALPLc.407G= (p.Arg136=)
n.467G=
c.176G= (p.Arg59=)
c.242G= (p.Arg81=)
c.251G= (p.Arg84=)
1g.21563219G>TCA338877272ALPLc.407G>T (p.Arg136Leu)
n.467G>T
c.176G>T (p.Arg59Leu)
c.242G>T (p.Arg81Leu)
c.251G>T (p.Arg84Leu)
1g.21563220T>ACA416525905ALPLc.408T>A (p.Arg136=)
n.468T>A
c.177T>A (p.Arg59=)
c.243T>A (p.Arg81=)
c.252T>A (p.Arg84=)
1g.21563220T>CCA416525907ALPLc.408T>C (p.Arg136=)
n.468T>C
c.177T>C (p.Arg59=)
c.243T>C (p.Arg81=)
c.252T>C (p.Arg84=)
1g.21563220T>GCA416525909ALPLc.408T>G (p.Arg136=)
n.468T>G
c.177T>G (p.Arg59=)
c.243T>G (p.Arg81=)
c.252T>G (p.Arg84=)
1g.21563221T>ACA338877275ALPLc.409T>A (p.Ser137Thr)
n.469T>A
c.178T>A (p.Ser60Thr)
c.244T>A (p.Ser82Thr)
c.253T>A (p.Ser85Thr)
1g.21563221T>CCA338877273ALPLc.409T>C (p.Ser137Pro)
n.469T>C
c.178T>C (p.Ser60Pro)
c.244T>C (p.Ser82Pro)
c.253T>C (p.Ser85Pro)
1g.21563221T>GCA338877274ALPLc.409T>G (p.Ser137Ala)
n.469T>G
c.178T>G (p.Ser60Ala)
c.244T>G (p.Ser82Ala)
c.253T>G (p.Ser85Ala)
1g.21563221_21563222delinsTCCA1158014047ALPLc.409_410delinsTC (p.Ser137=)
n.469_470delinsTC
c.178_179delinsTC (p.Ser60=)
c.244_245delinsTC (p.Ser82=)
c.253_254delinsTC (p.Ser85=)
1g.21563222C>ACA338877276ALPLc.410C>A (p.Ser137Tyr)
n.470C>A
c.179C>A (p.Ser60Tyr)
c.245C>A (p.Ser82Tyr)
c.254C>A (p.Ser85Tyr)
1g.21563222C>GCA338877277ALPLc.410C>G (p.Ser137Cys)
n.470C>G
c.179C>G (p.Ser60Cys)
c.245C>G (p.Ser82Cys)
c.254C>G (p.Ser85Cys)
1g.21563222C>TCA338877278ALPLc.410C>T (p.Ser137Phe)
n.470C>T
c.179C>T (p.Ser60Phe)
c.245C>T (p.Ser82Phe)
c.254C>T (p.Ser85Phe)
1g.21563224dupCA2586964023ALPLc.412dup (p.Arg138ProfsTer?)
n.472dup
c.181dup (p.Arg61ProfsTer?)
c.247dup (p.Arg83ProfsTer?)
c.256dup (p.Arg86ProfsTer?)
 ClinVar
1g.21563224delCA521899835ALPLc.412del (p.Arg138GlyfsTer27)
n.472del
c.181del (p.Arg61GlyfsTer27)
c.247del (p.Arg83GlyfsTer27)
c.256del (p.Arg86GlyfsTer27)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21563223C>ACA416525917ALPLc.411C>A (p.Ser137=)
n.471C>A
c.180C>A (p.Ser60=)
c.246C>A (p.Ser82=)
c.255C>A (p.Ser85=)
1g.21563223C>GCA416525921ALPLc.411C>G (p.Ser137=)
n.471C>G
c.180C>G (p.Ser60=)
c.246C>G (p.Ser82=)
c.255C>G (p.Ser85=)
 ClinVar dbSNP gnomAD v4
1g.21563223C>TCA416525919ALPLc.411C>T (p.Ser137=)
n.471C>T
c.180C>T (p.Ser60=)
c.246C>T (p.Ser82=)
c.255C>T (p.Ser85=)
1g.21563224C>ACA416525924ALPLc.412C>A (p.Arg138=)
n.472C>A
c.181C>A (p.Arg61=)
c.247C>A (p.Arg83=)
c.256C>A (p.Arg86=)
1g.21563224C=CA1149048586ALPLc.412C= (p.Arg138=)
n.472C=
c.181C= (p.Arg61=)
c.247C= (p.Arg83=)
c.256C= (p.Arg86=)
1g.21563224C>GCA338877279ALPLc.412C>G (p.Arg138Gly)
n.472C>G
c.181C>G (p.Arg61Gly)
c.247C>G (p.Arg83Gly)
c.256C>G (p.Arg86Gly)
1g.21563224C>TCA666479ALPLc.412C>T (p.Arg138Trp)
n.472C>T
c.181C>T (p.Arg61Trp)
c.247C>T (p.Arg83Trp)
c.256C>T (p.Arg86Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21563225G>ACA666480ALPLc.413G>A (p.Arg138Gln)
n.473G>A
c.182G>A (p.Arg61Gln)
c.248G>A (p.Arg83Gln)
c.257G>A (p.Arg86Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563225G>CCA338877280ALPLc.413G>C (p.Arg138Pro)
n.473G>C
c.182G>C (p.Arg61Pro)
c.248G>C (p.Arg83Pro)
c.257G>C (p.Arg86Pro)
 ClinVar
1g.21563225G=CA1141725531ALPLc.413G= (p.Arg138=)
n.473G=
c.182G= (p.Arg61=)
c.248G= (p.Arg83=)
c.257G= (p.Arg86=)
1g.21563225G>TCA19059295ALPLc.413G>T (p.Arg138Leu)
n.473G>T
c.182G>T (p.Arg61Leu)
c.248G>T (p.Arg83Leu)
c.257G>T (p.Arg86Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.21563226G>ACA416525933ALPLc.414G>A (p.Arg138=)
n.474G>A
c.183G>A (p.Arg61=)
c.249G>A (p.Arg83=)
c.258G>A (p.Arg86=)
 COSMIC
1g.21563226G>CCA416525931ALPLc.414G>C (p.Arg138=)
n.474G>C
c.183G>C (p.Arg61=)
c.249G>C (p.Arg83=)
c.258G>C (p.Arg86=)
1g.21563226G=CA1158014048ALPLc.414G= (p.Arg138=)
n.474G=
c.183G= (p.Arg61=)
c.249G= (p.Arg83=)
c.258G= (p.Arg86=)
1g.21563226G>TCA416525935ALPLc.414G>T (p.Arg138=)
n.474G>T
c.183G>T (p.Arg61=)
c.249G>T (p.Arg83=)
c.258G>T (p.Arg86=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21563227T>ACA338877281ALPLc.415T>A (p.Cys139Ser)
n.475T>A
c.184T>A (p.Cys62Ser)
c.250T>A (p.Cys84Ser)
c.259T>A (p.Cys87Ser)
1g.21563227T>CCA338877282ALPLc.415T>C (p.Cys139Arg)
n.475T>C
c.184T>C (p.Cys62Arg)
c.250T>C (p.Cys84Arg)
c.259T>C (p.Cys87Arg)
 ClinVar dbSNP
1g.21563227T>GCA338877283ALPLc.415T>G (p.Cys139Gly)
n.475T>G
c.184T>G (p.Cys62Gly)
c.250T>G (p.Cys84Gly)
c.259T>G (p.Cys87Gly)
1g.21563227T=CA1158014049ALPLc.415T= (p.Cys139=)
n.475T=
c.184T= (p.Cys62=)
c.250T= (p.Cys84=)
c.259T= (p.Cys87=)
1g.21563228G>ACA338877284ALPLc.416G>A (p.Cys139Tyr)
n.476G>A
c.185G>A (p.Cys62Tyr)
c.251G>A (p.Cys84Tyr)
c.260G>A (p.Cys87Tyr)
 ClinVar dbSNP gnomAD v4
1g.21563228G>CCA338877285ALPLc.416G>C (p.Cys139Ser)
n.476G>C
c.185G>C (p.Cys62Ser)
c.251G>C (p.Cys84Ser)
c.260G>C (p.Cys87Ser)
1g.21563228G=CA1158014050ALPLc.416G= (p.Cys139=)
n.476G=
c.185G= (p.Cys62=)
c.251G= (p.Cys84=)
c.260G= (p.Cys87=)
1g.21563228G>TCA338877286ALPLc.416G>T (p.Cys139Phe)
n.476G>T
c.185G>T (p.Cys62Phe)
c.251G>T (p.Cys84Phe)
c.260G>T (p.Cys87Phe)
1g.21563229C>ACA338877287ALPLc.417C>A (p.Cys139Ter)
n.477C>A
c.186C>A (p.Cys62Ter)
c.252C>A (p.Cys84Ter)
c.261C>A (p.Cys87Ter)
1g.21563229C>GCA338877288ALPLc.417C>G (p.Cys139Trp)
n.477C>G
c.186C>G (p.Cys62Trp)
c.252C>G (p.Cys84Trp)
c.261C>G (p.Cys87Trp)
1g.21563229C>TCA416525946ALPLc.417C>T (p.Cys139=)
n.477C>T
c.186C>T (p.Cys62=)
c.252C>T (p.Cys84=)
c.261C>T (p.Cys87=)
1g.21563230A>CCA338877289ALPLc.418A>C (p.Asn140His)
n.478A>C
c.187A>C (p.Asn63His)
c.253A>C (p.Asn85His)
c.262A>C (p.Asn88His)
1g.21563230A>GCA338877290ALPLc.418A>G (p.Asn140Asp)
n.478A>G
c.187A>G (p.Asn63Asp)
c.253A>G (p.Asn85Asp)
c.262A>G (p.Asn88Asp)
1g.21563230A>TCA338877291ALPLc.418A>T (p.Asn140Tyr)
n.478A>T
c.187A>T (p.Asn63Tyr)
c.253A>T (p.Asn85Tyr)
c.262A>T (p.Asn88Tyr)
1g.21563231A>CCA338877293ALPLc.419A>C (p.Asn140Thr)
n.479A>C
c.188A>C (p.Asn63Thr)
c.254A>C (p.Asn85Thr)
c.263A>C (p.Asn88Thr)
 gnomAD v4
1g.21563231A>GCA338877295ALPLc.419A>G (p.Asn140Ser)
n.479A>G
c.188A>G (p.Asn63Ser)
c.254A>G (p.Asn85Ser)
c.263A>G (p.Asn88Ser)
1g.21563231A>TCA338877294ALPLc.419A>T (p.Asn140Ile)
n.479A>T
c.188A>T (p.Asn63Ile)
c.254A>T (p.Asn85Ile)
c.263A>T (p.Asn88Ile)
1g.21563232C>ACA338877296ALPLc.420C>A (p.Asn140Lys)
n.480C>A
c.189C>A (p.Asn63Lys)
c.255C>A (p.Asn85Lys)
c.264C>A (p.Asn88Lys)
1g.21563232C=CA1142273585ALPLc.420C= (p.Asn140=)
n.480C=
c.189C= (p.Asn63=)
c.255C= (p.Asn85=)
c.264C= (p.Asn88=)
1g.21563232C>GCA338877297ALPLc.420C>G (p.Asn140Lys)
n.480C>G
c.189C>G (p.Asn63Lys)
c.255C>G (p.Asn85Lys)
c.264C>G (p.Asn88Lys)
1g.21563232C>TCA666481ALPLc.420C>T (p.Asn140=)
n.480C>T
c.189C>T (p.Asn63=)
c.255C>T (p.Asn85=)
c.264C>T (p.Asn88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21563233A>CCA338877298ALPLc.421A>C (p.Thr141Pro)
n.481A>C
c.190A>C (p.Thr64Pro)
c.256A>C (p.Thr86Pro)
c.265A>C (p.Thr89Pro)
1g.21563233A>GCA338877300ALPLc.421A>G (p.Thr141Ala)
n.481A>G
c.190A>G (p.Thr64Ala)
c.256A>G (p.Thr86Ala)
c.265A>G (p.Thr89Ala)
 gnomAD v4
1g.21563233A>TCA338877299ALPLc.421A>T (p.Thr141Ser)
n.481A>T
c.190A>T (p.Thr64Ser)
c.256A>T (p.Thr86Ser)
c.265A>T (p.Thr89Ser)
1g.21563234C>ACA338877301ALPLc.422C>A (p.Thr141Asn)
n.482C>A
c.191C>A (p.Thr64Asn)
c.257C>A (p.Thr86Asn)
c.266C>A (p.Thr89Asn)
 ClinVar dbSNP gnomAD v4
1g.21563234C=CA1158014051ALPLc.422C= (p.Thr141=)
n.482C=
c.191C= (p.Thr64=)
c.257C= (p.Thr86=)
c.266C= (p.Thr89=)
1g.21563234C>GCA338877302ALPLc.422C>G (p.Thr141Ser)
n.482C>G
c.191C>G (p.Thr64Ser)
c.257C>G (p.Thr86Ser)
c.266C>G (p.Thr89Ser)
1g.21563234C>TCA19059333ALPLc.422C>T (p.Thr141Ile)
n.482C>T
c.191C>T (p.Thr64Ile)
c.257C>T (p.Thr86Ile)
c.266C>T (p.Thr89Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21563235C>ACA416525963ALPLc.423C>A (p.Thr141=)
n.483C>A
c.192C>A (p.Thr64=)
c.258C>A (p.Thr86=)
c.267C>A (p.Thr89=)
1g.21563235C=CA1158014052ALPLc.423C= (p.Thr141=)
n.483C=
c.192C= (p.Thr64=)
c.258C= (p.Thr86=)
c.267C= (p.Thr89=)
1g.21563235C>GCA416525964ALPLc.423C>G (p.Thr141=)
n.483C>G
c.192C>G (p.Thr64=)
c.258C>G (p.Thr86=)
c.267C>G (p.Thr89=)
1g.21563235C>TCA416525966ALPLc.423C>T (p.Thr141=)
n.483C>T
c.192C>T (p.Thr64=)
c.258C>T (p.Thr86=)
c.267C>T (p.Thr89=)
 dbSNP gnomAD v2 gnomAD v4
1g.21563236_21563237delCA913072870ALPLc.424_425del (p.Thr142ProfsTer?)
n.484_485del
c.193_194del (p.Thr65ProfsTer?)
c.259_260del (p.Thr87ProfsTer?)
c.268_269del (p.Thr90ProfsTer?)

Number of alleles fetched