Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.161305804_161305834delCA2648773126MPZc.*43_*73del (n.*43_*73del)
c.790_820del (p.Ser264ArgfsTer?)
n.853_883del
n.380_410del
n.228_258del
c.453_483del
c.675+275_675+305del (n.675+275_675+305del)
 gnomAD v4
1g.161305808_161309983dupCA10584071 ClinVar
1g.161305824delCA2648773140MPZc.*53del (n.*53del)
c.800del (p.Gly267AlafsTer4)
n.863del
n.390del
n.238del
c.463del
c.675+285del (n.675+285del)
 gnomAD v4
1g.161305824C>ACA2648773143MPZc.*52G>T (n.*52G>T)
c.799G>T (p.Gly267Cys)
n.862G>T
n.389G>T
n.237G>T
c.462G>T
c.675+284G>T (n.675+284G>T)
 gnomAD v4
1g.161305824C=CA1202687625MPZc.*52G= (n.*52G=)
c.799G= (p.Gly267=)
n.862G=
n.389G=
n.237G=
c.462G=
c.675+284G= (n.675+284G=)
1g.161305824C>TCA1210041MPZc.*52G>A (n.*52G>A)
c.799G>A (p.Gly267Ser)
n.862G>A
n.389G>A
n.237G>A
c.462G>A
c.675+284G>A (n.675+284G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.161305825T>CCA2648773144MPZc.*51A>G (n.*51A>G)
c.798A>G (p.Lys266=)
n.861A>G
n.388A>G
n.236A>G
c.461A>G
c.675+283A>G (n.675+283A>G)
 gnomAD v4
1g.161305825T>GCA2574078131MPZc.*51A>C (n.*51A>C)
c.798A>C (p.Lys266Asn)
n.861A>C
n.388A>C
n.236A>C
c.461A>C
c.675+283A>C (n.675+283A>C)
1g.161305828G>ACA1202687632MPZc.*48C>T (n.*48C>T)
c.795C>T (p.Ala265=)
n.858C>T
n.385C>T
n.233C>T
c.458C>T
c.675+280C>T (n.675+280C>T)
 dbSNP gnomAD v4
1g.161305828G=CA1202687631MPZc.*48C= (n.*48C=)
c.795C= (p.Ala265=)
n.858C=
n.385C=
n.233C=
c.458C=
c.675+280C= (n.675+280C=)
1g.161305828G>TCA2574078132MPZc.*48C>A (n.*48C>A)
c.795C>A (p.Ala265=)
n.858C>A
n.385C>A
n.233C>A
c.458C>A
c.675+280C>A (n.675+280C>A)
 gnomAD v4
1g.161305829G>ACA2648773145MPZc.*47C>T (n.*47C>T)
c.794C>T (p.Ala265Val)
n.857C>T
n.384C>T
n.232C>T
c.457C>T
c.675+279C>T (n.675+279C>T)
 gnomAD v4
1g.161305829G>TCA2648773146MPZc.*47C>A (n.*47C>A)
c.794C>A (p.Ala265Asp)
n.857C>A
n.384C>A
n.232C>A
c.457C>A
c.675+279C>A (n.675+279C>A)
 gnomAD v4
1g.161305830C>ACA2546942285MPZc.*46G>T (n.*46G>T)
c.793G>T (p.Ala265Ser)
n.856G>T
n.383G>T
n.231G>T
c.456G>T
c.675+278G>T (n.675+278G>T)
 gnomAD v4
1g.161305830C=CA1202687634MPZc.*46G= (n.*46G=)
c.793G= (p.Ala265=)
n.856G=
n.383G=
n.231G=
c.456G=
c.675+278G= (n.675+278G=)
1g.161305830C>GCA31667632MPZc.*46G>C (n.*46G>C)
c.793G>C (p.Ala265Pro)
n.856G>C
n.383G>C
n.231G>C
c.456G>C
c.675+278G>C (n.675+278G>C)
 dbSNP
1g.161305830C>TCA1210042MPZc.*46G>A (n.*46G>A)
c.793G>A (p.Ala265Thr)
n.856G>A
n.383G>A
n.231G>A
c.456G>A
c.675+278G>A (n.675+278G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.161305831G>ACA526855476MPZc.*45C>T (n.*45C>T)
c.792C>T (p.Ser264=)
n.855C>T
n.382C>T
n.230C>T
c.455C>T
c.675+277C>T (n.675+277C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.161305831G>CCA1202687637MPZc.*45C>G (n.*45C>G)
c.792C>G (p.Ser264=)
n.855C>G
n.382C>G
n.230C>G
c.455C>G
c.675+277C>G (n.675+277C>G)
 dbSNP gnomAD v4
1g.161305831G=CA1202687636MPZc.*45C= (n.*45C=)
c.792C= (p.Ser264=)
n.855C=
n.382C=
n.230C=
c.455C=
c.675+277C= (n.675+277C=)
1g.161305831G>TCA2648773147MPZc.*45C>A (n.*45C>A)
c.792C>A (p.Ser264=)
n.855C>A
n.382C>A
n.230C>A
c.455C>A
c.675+277C>A (n.675+277C>A)
 gnomAD v4
1g.161305832G>ACA2648773148MPZc.*44C>T (n.*44C>T)
c.791C>T (p.Ser264Phe)
n.854C>T
n.381C>T
n.229C>T
c.454C>T
c.675+276C>T (n.675+276C>T)
 gnomAD v4
1g.161305832G>TCA2574078133MPZc.*44C>A (n.*44C>A)
c.791C>A (p.Ser264Tyr)
n.854C>A
n.381C>A
n.229C>A
c.454C>A
c.675+276C>A (n.675+276C>A)
 gnomAD v4
1g.161305833A>CCA2574078134MPZc.*43T>G (n.*43T>G)
c.790T>G (p.Ser264Ala)
n.853T>G
n.380T>G
n.228T>G
c.453T>G
c.675+275T>G (n.675+275T>G)
 gnomAD v4
1g.161305833A>GCA2559080671MPZc.*43T>C (n.*43T>C)
c.790T>C (p.Ser264Pro)
n.853T>C
n.380T>C
n.228T>C
c.453T>C
c.675+275T>C (n.675+275T>C)
1g.161305834C>ACA2648773149MPZc.*42G>T (n.*42G>T)
c.789G>T (p.Glu263Asp)
n.852G>T
n.379G>T
n.227G>T
c.452G>T
c.675+274G>T (n.675+274G>T)
 gnomAD v4
1g.161305836C>ACA1210044MPZc.*40G>T (n.*40G>T)
c.787G>T (p.Glu263Ter)
n.850G>T
n.377G>T
n.225G>T
c.450G>T
c.675+272G>T (n.675+272G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.161305836C=CA1202687639MPZc.*40G= (n.*40G=)
c.787G= (p.Glu263=)
n.850G=
n.377G=
n.225G=
c.450G=
c.675+272G= (n.675+272G=)
1g.161305836C>GCA1210043MPZc.*40G>C (n.*40G>C)
c.787G>C (p.Glu263Gln)
n.850G>C
n.377G>C
n.225G>C
c.450G>C
c.675+272G>C (n.675+272G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.161305837C>ACA526855478MPZc.*39G>T (n.*39G>T)
c.786G>T (p.Val262=)
n.849G>T
n.376G>T
n.224G>T
c.449G>T
c.675+271G>T (n.675+271G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.161305837C=CA1202687641MPZc.*39G= (n.*39G=)
c.786G= (p.Val262=)
n.849G=
n.376G=
n.224G=
c.449G=
c.675+271G= (n.675+271G=)
1g.161305837C>TCA2574078137MPZc.*39G>A (n.*39G>A)
c.786G>A (p.Val262=)
n.849G>A
n.376G>A
n.224G>A
c.449G>A
c.675+271G>A (n.675+271G>A)
1g.161305838A>CCA2648773150MPZc.*38T>G (n.*38T>G)
c.785T>G (p.Val262Gly)
n.848T>G
n.375T>G
n.223T>G
c.448T>G
c.675+270T>G (n.675+270T>G)
 gnomAD v4
1g.161305839C>ACA1210045MPZc.*37G>T (n.*37G>T)
c.784G>T (p.Val262Leu)
n.847G>T
n.374G>T
n.222G>T
c.447G>T
c.675+269G>T (n.675+269G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.161305839C=CA1202687643MPZc.*37G= (n.*37G=)
c.784G= (p.Val262=)
n.847G=
n.374G=
n.222G=
c.447G=
c.675+269G= (n.675+269G=)
1g.161305839C>TCA2574078138MPZc.*37G>A (n.*37G>A)
c.784G>A (p.Val262Met)
n.847G>A
n.374G>A
n.222G>A
c.447G>A
c.675+269G>A (n.675+269G>A)
 dbSNP gnomAD v4
1g.161305842_161305843insAAAACCCCCCA2648773159MPZc.*37_*38insGTTTTGGGG (n.*37_*38insGTTTTGGGG)
c.784_785insGTTTTGGGG (p.Gly261_Val262insGlyPheGly)
n.847_848insGTTTTGGGG
n.374_375insGTTTTGGGG
n.222_223insGTTTTGGGG
c.447_448insGTTTTGGGG
c.675+269_675+270insGTTTTGGGG (n.675+269_675+270insGTTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCAACCCCCCCCCGCCCCCCA2648773161MPZc.*37_*38insGCGGGGGGGGGTTGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGTTGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGTTGGGGGGTTTGGGG (p.Val262GlyfsTer18)
n.847_848insGCGGGGGGGGGTTGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGTTGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGTTGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGTTGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGTTGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGTTGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCATACCCCCCCCCGCCCCCCA2648773154MPZc.*37_*38insGCGGGGGGGGGTATGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGTATGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGTATGGGGGGTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyTyrGlyGlyPheGly)
n.847_848insGCGGGGGGGGGTATGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGTATGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGTATGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGTATGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGTATGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGTATGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAAACCCCCAAACCCCCCCCCGCCCCCCA2648773158MPZc.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG (n.*37_*38insGCGGGGGGGGGTTTGGGGGTTTTGGGG)
c.784_785insGCGGGGGGGGGTTTGGGGGTTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyPheGlyGlyPheGly)
n.847_848insGCGGGGGGGGGTTTGGGGGTTTTGGGG
n.374_375insGCGGGGGGGGGTTTGGGGGTTTTGGGG
n.222_223insGCGGGGGGGGGTTTGGGGGTTTTGGGG
c.447_448insGCGGGGGGGGGTTTGGGGGTTTTGGGG
c.675+269_675+270insGCGGGGGGGGGTTTGGGGGTTTTGGGG (n.675+269_675+270insGCGGGGGGGGGTTTGGGGGTTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCAACCCCCCCCCGGCCCCCCA2746370983MPZc.*37_*38insGCCGGGGGGGGGTTGGGGGGTTTGGGG (n.*37_*38insGCCGGGGGGGGGTTGGGGGGTTTGGGG)
c.784_785insGCCGGGGGGGGGTTGGGGGGTTTGGGG (p.Gly261_Val262insGlyArgGlyGlyValGlyGlyPheGly)
n.847_848insGCCGGGGGGGGGTTGGGGGGTTTGGGG
n.374_375insGCCGGGGGGGGGTTGGGGGGTTTGGGG
n.222_223insGCCGGGGGGGGGTTGGGGGGTTTGGGG
c.447_448insGCCGGGGGGGGGTTGGGGGGTTTGGGG
c.675+269_675+270insGCCGGGGGGGGGTTGGGGGGTTTGGGG (n.675+269_675+270insGCCGGGGGGGGGTTGGGGGGTTTGGGG)
1g.161305842_161305843insAAACCCCCCAACCCCCCCCCCGCCCCCCA2648773155MPZc.*37_*38insGCGGGGGGGGGGTTGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGGTTGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGGTTGGGGGGTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyValGlyGlyPheGly)
n.847_848insGCGGGGGGGGGGTTGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGGTTGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGGTTGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGGTTGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGGTTGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGGTTGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCAAACCCCCCCCCGCCCCCCA2648773151MPZc.*37_*38insGCGGGGGGGGGTTTGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGTTTGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGTTTGGGGGGTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyPheGlyGlyPheGly)
n.847_848insGCGGGGGGGGGTTTGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGTTTGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGTTTGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGTTTGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGTTTGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGTTTGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCATCCCCCCCCCGGCCCCCCA2648773152MPZc.*37_*38insGCCGGGGGGGGGATGGGGGGTTTGGGG (n.*37_*38insGCCGGGGGGGGGATGGGGGGTTTGGGG)
c.784_785insGCCGGGGGGGGGATGGGGGGTTTGGGG (p.Gly261_Val262insGlyArgGlyGlyAspGlyGlyPheGly)
n.847_848insGCCGGGGGGGGGATGGGGGGTTTGGGG
n.374_375insGCCGGGGGGGGGATGGGGGGTTTGGGG
n.222_223insGCCGGGGGGGGGATGGGGGGTTTGGGG
c.447_448insGCCGGGGGGGGGATGGGGGGTTTGGGG
c.675+269_675+270insGCCGGGGGGGGGATGGGGGGTTTGGGG (n.675+269_675+270insGCCGGGGGGGGGATGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCATCCCCCCCCCCGCCCCCCA2648773153MPZc.*37_*38insGCGGGGGGGGGGATGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGGATGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGGATGGGGGGTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyAspGlyGlyPheGly)
n.847_848insGCGGGGGGGGGGATGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGGATGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGGATGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGGATGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGGATGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGGATGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAAACCCCCCTCCCCCCCCCCGCCCCCCA2648773157MPZc.*37_*38insGCGGGGGGGGGGAGGGGGGTTTTGGGG (n.*37_*38insGCGGGGGGGGGGAGGGGGGTTTTGGGG)
c.784_785insGCGGGGGGGGGGAGGGGGGTTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyGluGlyGlyPheGly)
n.847_848insGCGGGGGGGGGGAGGGGGGTTTTGGGG
n.374_375insGCGGGGGGGGGGAGGGGGGTTTTGGGG
n.222_223insGCGGGGGGGGGGAGGGGGGTTTTGGGG
c.447_448insGCGGGGGGGGGGAGGGGGGTTTTGGGG
c.675+269_675+270insGCGGGGGGGGGGAGGGGGGTTTTGGGG (n.675+269_675+270insGCGGGGGGGGGGAGGGGGGTTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAAACCCCCATACCCCCCCCCGCCCCCCA2746370984MPZc.*37_*38insGCGGGGGGGGGTATGGGGGTTTTGGGG (n.*37_*38insGCGGGGGGGGGTATGGGGGTTTTGGGG)
c.784_785insGCGGGGGGGGGTATGGGGGTTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyTyrGlyGlyPheGly)
n.847_848insGCGGGGGGGGGTATGGGGGTTTTGGGG
n.374_375insGCGGGGGGGGGTATGGGGGTTTTGGGG
n.222_223insGCGGGGGGGGGTATGGGGGTTTTGGGG
c.447_448insGCGGGGGGGGGTATGGGGGTTTTGGGG
c.675+269_675+270insGCGGGGGGGGGTATGGGGGTTTTGGGG (n.675+269_675+270insGCGGGGGGGGGTATGGGGGTTTTGGGG)
1g.161305842_161305843insAAACCCCCCAAACCCCCCCCCCGCCCCCCA2648773156MPZc.*37_*38insGCGGGGGGGGGGTTTGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGGTTTGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGGTTTGGGGGGTTTGGGG (p.Val262GlyfsTer29)
n.847_848insGCGGGGGGGGGGTTTGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGGTTTGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGGTTTGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGGTTTGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGGTTTGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGGTTTGGGGGGTTTGGGG)
 gnomAD v4
1g.161305842_161305843insAAACCCCCCAAACCCCCCCTCCCCCCCCCCGCCCCCCA2746370982MPZc.*37_*38insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG (n.*37_*38insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG)
c.784_785insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG (p.Gly261_Val262insGlyGlyGlyGlyGluGlyGlyPheGlyGlyPheGly)
n.847_848insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG
n.374_375insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG
n.222_223insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG
c.447_448insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG
c.675+269_675+270insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG (n.675+269_675+270insGCGGGGGGGGGGAGGGGGGGTTTGGGGGGTTTGGGG)
1g.161305842dupCA2648773160MPZc.*37dup (n.*37dup)
c.784dup (p.Val262GlyfsTer20)
n.847dup
n.374dup
n.222dup
c.447dup
c.675+269dup (n.675+269dup)
 gnomAD v4

Number of alleles fetched