Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.40078545T>CCA2574329636PPT1c.723+15A>G (n.723+15A>G)
c.726+15A>G (n.726+15A>G)
c.417+15A>G (n.417+15A>G)
c.495+15A>G (n.495+15A>G)
c.69+15A>G (n.69+15A>G)
c.*349+15A>G (n.*349+15A>G)
c.704+15A>G
n.963+15A>G
c.149-1632A>G
c.813+15A>G (n.813+15A>G)
c.*578+15A>G (n.*578+15A>G)
c.*155+15A>G (n.*155+15A>G)
n.123+15A>G
c.411+15A>G (n.411+15A>G)
c.501+15A>G (n.501+15A>G)
1g.40078545T>GCA2645091400PPT1c.723+15A>C (n.723+15A>C)
c.726+15A>C (n.726+15A>C)
c.417+15A>C (n.417+15A>C)
c.495+15A>C (n.495+15A>C)
c.69+15A>C (n.69+15A>C)
c.*349+15A>C (n.*349+15A>C)
c.704+15A>C
n.963+15A>C
c.149-1632A>C
c.813+15A>C (n.813+15A>C)
c.*578+15A>C (n.*578+15A>C)
c.*155+15A>C (n.*155+15A>C)
n.123+15A>C
c.411+15A>C (n.411+15A>C)
c.501+15A>C (n.501+15A>C)
 gnomAD v4
1g.40078545dupCA2645091401PPT1c.723+15dup (n.723+15dup)
c.726+15dup (n.726+15dup)
c.417+15dup (n.417+15dup)
c.495+15dup (n.495+15dup)
c.69+15dup (n.69+15dup)
c.*349+15dup (n.*349+15dup)
c.704+15dup
n.963+15dup
c.149-1632dup
c.813+15dup (n.813+15dup)
c.*578+15dup (n.*578+15dup)
c.*155+15dup (n.*155+15dup)
n.123+15dup
c.411+15dup (n.411+15dup)
c.501+15dup (n.501+15dup)
 gnomAD v4
1g.40078546A>TCA2645091402PPT1c.723+14T>A (n.723+14T>A)
c.726+14T>A (n.726+14T>A)
c.417+14T>A (n.417+14T>A)
c.495+14T>A (n.495+14T>A)
c.69+14T>A (n.69+14T>A)
c.*349+14T>A (n.*349+14T>A)
c.704+14T>A
n.963+14T>A
c.149-1633T>A
c.813+14T>A (n.813+14T>A)
c.*578+14T>A (n.*578+14T>A)
c.*155+14T>A (n.*155+14T>A)
n.123+14T>A
c.411+14T>A (n.411+14T>A)
c.501+14T>A (n.501+14T>A)
 gnomAD v4
1g.40078547A=CA1164245512PPT1c.723+13T= (n.723+13T=)
c.726+13T= (n.726+13T=)
c.417+13T= (n.417+13T=)
c.495+13T= (n.495+13T=)
c.69+13T= (n.69+13T=)
c.*349+13T= (n.*349+13T=)
c.704+13T=
n.963+13T=
c.149-1634T=
c.813+13T= (n.813+13T=)
c.*578+13T= (n.*578+13T=)
c.*155+13T= (n.*155+13T=)
n.123+13T=
c.411+13T= (n.411+13T=)
c.501+13T= (n.501+13T=)
1g.40078547A>GCA21005727PPT1c.723+13T>C (n.723+13T>C)
c.726+13T>C (n.726+13T>C)
c.417+13T>C (n.417+13T>C)
c.495+13T>C (n.495+13T>C)
c.69+13T>C (n.69+13T>C)
c.*349+13T>C (n.*349+13T>C)
c.704+13T>C
n.963+13T>C
c.149-1634T>C
c.813+13T>C (n.813+13T>C)
c.*578+13T>C (n.*578+13T>C)
c.*155+13T>C (n.*155+13T>C)
n.123+13T>C
c.411+13T>C (n.411+13T>C)
c.501+13T>C (n.501+13T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.40078548G>ACA735686176PPT1c.723+12C>T (n.723+12C>T)
c.726+12C>T (n.726+12C>T)
c.417+12C>T (n.417+12C>T)
c.495+12C>T (n.495+12C>T)
c.69+12C>T (n.69+12C>T)
c.*349+12C>T (n.*349+12C>T)
c.704+12C>T
n.963+12C>T
c.149-1635C>T
c.813+12C>T (n.813+12C>T)
c.*578+12C>T (n.*578+12C>T)
c.*155+12C>T (n.*155+12C>T)
n.123+12C>T
c.411+12C>T (n.411+12C>T)
c.501+12C>T (n.501+12C>T)
 dbSNP gnomAD v4
1g.40078548G=CA1164245513PPT1c.723+12C= (n.723+12C=)
c.726+12C= (n.726+12C=)
c.417+12C= (n.417+12C=)
c.495+12C= (n.495+12C=)
c.69+12C= (n.69+12C=)
c.*349+12C= (n.*349+12C=)
c.704+12C=
n.963+12C=
c.149-1635C=
c.813+12C= (n.813+12C=)
c.*578+12C= (n.*578+12C=)
c.*155+12C= (n.*155+12C=)
n.123+12C=
c.411+12C= (n.411+12C=)
c.501+12C= (n.501+12C=)
1g.40078549T>ACA2565380554PPT1c.723+11A>T (n.723+11A>T)
c.726+11A>T (n.726+11A>T)
c.417+11A>T (n.417+11A>T)
c.495+11A>T (n.495+11A>T)
c.69+11A>T (n.69+11A>T)
c.*349+11A>T (n.*349+11A>T)
c.704+11A>T
n.963+11A>T
c.149-1636A>T
c.813+11A>T (n.813+11A>T)
c.*578+11A>T (n.*578+11A>T)
c.*155+11A>T (n.*155+11A>T)
n.123+11A>T
c.411+11A>T (n.411+11A>T)
c.501+11A>T (n.501+11A>T)
1g.40078550A>TCA2645091405PPT1c.723+10T>A (n.723+10T>A)
c.726+10T>A (n.726+10T>A)
c.417+10T>A (n.417+10T>A)
c.495+10T>A (n.495+10T>A)
c.69+10T>A (n.69+10T>A)
c.*349+10T>A (n.*349+10T>A)
c.704+10T>A
n.963+10T>A
c.149-1637T>A
c.813+10T>A (n.813+10T>A)
c.*578+10T>A (n.*578+10T>A)
c.*155+10T>A (n.*155+10T>A)
n.123+10T>A
c.411+10T>A (n.411+10T>A)
c.501+10T>A (n.501+10T>A)
 gnomAD v4
1g.40078551G>ACA21005735PPT1c.723+9C>T (n.723+9C>T)
c.726+9C>T (n.726+9C>T)
c.417+9C>T (n.417+9C>T)
c.495+9C>T (n.495+9C>T)
c.69+9C>T (n.69+9C>T)
c.*349+9C>T (n.*349+9C>T)
c.704+9C>T
n.963+9C>T
c.149-1638C>T
c.813+9C>T (n.813+9C>T)
c.*578+9C>T (n.*578+9C>T)
c.*155+9C>T (n.*155+9C>T)
n.123+9C>T
c.411+9C>T (n.411+9C>T)
c.501+9C>T (n.501+9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078551G>CCA2573132440PPT1c.723+9C>G (n.723+9C>G)
c.726+9C>G (n.726+9C>G)
c.417+9C>G (n.417+9C>G)
c.495+9C>G (n.495+9C>G)
c.69+9C>G (n.69+9C>G)
c.*349+9C>G (n.*349+9C>G)
c.704+9C>G
n.963+9C>G
c.149-1638C>G
c.813+9C>G (n.813+9C>G)
c.*578+9C>G (n.*578+9C>G)
c.*155+9C>G (n.*155+9C>G)
n.123+9C>G
c.411+9C>G (n.411+9C>G)
c.501+9C>G (n.501+9C>G)
 ClinVar dbSNP
1g.40078551G=CA1164245514PPT1c.723+9C= (n.723+9C=)
c.726+9C= (n.726+9C=)
c.417+9C= (n.417+9C=)
c.495+9C= (n.495+9C=)
c.69+9C= (n.69+9C=)
c.*349+9C= (n.*349+9C=)
c.704+9C=
n.963+9C=
c.149-1638C=
c.813+9C= (n.813+9C=)
c.*578+9C= (n.*578+9C=)
c.*155+9C= (n.*155+9C=)
n.123+9C=
c.411+9C= (n.411+9C=)
c.501+9C= (n.501+9C=)
1g.40078552T>CCA1164245515PPT1c.723+8A>G (n.723+8A>G)
c.726+8A>G (n.726+8A>G)
c.417+8A>G (n.417+8A>G)
c.495+8A>G (n.495+8A>G)
c.69+8A>G (n.69+8A>G)
c.*349+8A>G (n.*349+8A>G)
c.704+8A>G
n.963+8A>G
c.149-1639A>G
c.813+8A>G (n.813+8A>G)
c.*578+8A>G (n.*578+8A>G)
c.*155+8A>G (n.*155+8A>G)
n.123+8A>G
c.411+8A>G (n.411+8A>G)
c.501+8A>G (n.501+8A>G)
 ClinVar dbSNP gnomAD v4
1g.40078552T=CA1164245516PPT1c.723+8A= (n.723+8A=)
c.726+8A= (n.726+8A=)
c.417+8A= (n.417+8A=)
c.495+8A= (n.495+8A=)
c.69+8A= (n.69+8A=)
c.*349+8A= (n.*349+8A=)
c.704+8A=
n.963+8A=
c.149-1639A=
c.813+8A= (n.813+8A=)
c.*578+8A= (n.*578+8A=)
c.*155+8A= (n.*155+8A=)
n.123+8A=
c.411+8A= (n.411+8A=)
c.501+8A= (n.501+8A=)
1g.40078553G=CA1164245517PPT1c.723+7C= (n.723+7C=)
c.726+7C= (n.726+7C=)
c.417+7C= (n.417+7C=)
c.495+7C= (n.495+7C=)
c.69+7C= (n.69+7C=)
c.*349+7C= (n.*349+7C=)
c.704+7C=
n.963+7C=
c.149-1640C=
c.813+7C= (n.813+7C=)
c.*578+7C= (n.*578+7C=)
c.*155+7C= (n.*155+7C=)
n.123+7C=
c.411+7C= (n.411+7C=)
c.501+7C= (n.501+7C=)
1g.40078553G>TCA522418053PPT1c.723+7C>A (n.723+7C>A)
c.726+7C>A (n.726+7C>A)
c.417+7C>A (n.417+7C>A)
c.495+7C>A (n.495+7C>A)
c.69+7C>A (n.69+7C>A)
c.*349+7C>A (n.*349+7C>A)
c.704+7C>A
n.963+7C>A
c.149-1640C>A
c.813+7C>A (n.813+7C>A)
c.*578+7C>A (n.*578+7C>A)
c.*155+7C>A (n.*155+7C>A)
n.123+7C>A
c.411+7C>A (n.411+7C>A)
c.501+7C>A (n.501+7C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078555C>GCA2645091408PPT1c.723+5G>C (n.723+5G>C)
c.726+5G>C (n.726+5G>C)
c.417+5G>C (n.417+5G>C)
c.495+5G>C (n.495+5G>C)
c.69+5G>C (n.69+5G>C)
c.*349+5G>C (n.*349+5G>C)
c.704+5G>C
n.963+5G>C
c.149-1642G>C
c.813+5G>C (n.813+5G>C)
c.*578+5G>C (n.*578+5G>C)
c.*155+5G>C (n.*155+5G>C)
n.123+5G>C
c.411+5G>C (n.411+5G>C)
c.501+5G>C (n.501+5G>C)
 gnomAD v4
1g.40078556T>CCA2574329637PPT1c.723+4A>G (n.723+4A>G)
c.726+4A>G (n.726+4A>G)
c.417+4A>G (n.417+4A>G)
c.495+4A>G (n.495+4A>G)
c.69+4A>G (n.69+4A>G)
c.*349+4A>G (n.*349+4A>G)
c.704+4A>G
n.963+4A>G
c.149-1643A>G
c.813+4A>G (n.813+4A>G)
c.*578+4A>G (n.*578+4A>G)
c.*155+4A>G (n.*155+4A>G)
n.123+4A>G
c.411+4A>G (n.411+4A>G)
c.501+4A>G (n.501+4A>G)
1g.40078557C>ACA2499214701PPT1c.723+3G>T (n.723+3G>T)
c.726+3G>T (n.726+3G>T)
c.417+3G>T (n.417+3G>T)
c.495+3G>T (n.495+3G>T)
c.69+3G>T (n.69+3G>T)
c.*349+3G>T (n.*349+3G>T)
c.704+3G>T
n.963+3G>T
c.149-1644G>T
c.813+3G>T (n.813+3G>T)
c.*578+3G>T (n.*578+3G>T)
c.*155+3G>T (n.*155+3G>T)
n.123+3G>T
c.411+3G>T (n.411+3G>T)
c.501+3G>T (n.501+3G>T)
 ClinVar dbSNP
1g.40078558A=CA1164245518PPT1c.723+2T= (n.723+2T=)
c.726+2T= (n.726+2T=)
c.417+2T= (n.417+2T=)
c.495+2T= (n.495+2T=)
c.69+2T= (n.69+2T=)
c.*349+2T= (n.*349+2T=)
c.704+2T=
n.963+2T=
c.149-1645T=
c.813+2T= (n.813+2T=)
c.*578+2T= (n.*578+2T=)
c.*155+2T= (n.*155+2T=)
n.123+2T=
c.411+2T= (n.411+2T=)
c.501+2T= (n.501+2T=)
1g.40078558A>CCA339846531PPT1c.723+2T>G (n.723+2T>G)
c.726+2T>G (n.726+2T>G)
c.417+2T>G (n.417+2T>G)
c.495+2T>G (n.495+2T>G)
c.69+2T>G (n.69+2T>G)
c.*349+2T>G (n.*349+2T>G)
c.704+2T>G
n.963+2T>G
c.149-1645T>G
c.813+2T>G (n.813+2T>G)
c.*578+2T>G (n.*578+2T>G)
c.*155+2T>G (n.*155+2T>G)
n.123+2T>G
c.411+2T>G (n.411+2T>G)
c.501+2T>G (n.501+2T>G)
 ClinVar
1g.40078558A>GCA339846527PPT1c.723+2T>C (n.723+2T>C)
c.726+2T>C (n.726+2T>C)
c.417+2T>C (n.417+2T>C)
c.495+2T>C (n.495+2T>C)
c.69+2T>C (n.69+2T>C)
c.*349+2T>C (n.*349+2T>C)
c.704+2T>C
n.963+2T>C
c.149-1645T>C
c.813+2T>C (n.813+2T>C)
c.*578+2T>C (n.*578+2T>C)
c.*155+2T>C (n.*155+2T>C)
n.123+2T>C
c.411+2T>C (n.411+2T>C)
c.501+2T>C (n.501+2T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078558A>TCA339846529PPT1c.723+2T>A (n.723+2T>A)
c.726+2T>A (n.726+2T>A)
c.417+2T>A (n.417+2T>A)
c.495+2T>A (n.495+2T>A)
c.69+2T>A (n.69+2T>A)
c.*349+2T>A (n.*349+2T>A)
c.704+2T>A
n.963+2T>A
c.149-1645T>A
c.813+2T>A (n.813+2T>A)
c.*578+2T>A (n.*578+2T>A)
c.*155+2T>A (n.*155+2T>A)
n.123+2T>A
c.411+2T>A (n.411+2T>A)
c.501+2T>A (n.501+2T>A)
1g.40078559C>ACA339846533PPT1c.723+1G>T (n.723+1G>T)
c.726+1G>T (n.726+1G>T)
c.417+1G>T (n.417+1G>T)
c.495+1G>T (n.495+1G>T)
c.69+1G>T (n.69+1G>T)
c.*349+1G>T (n.*349+1G>T)
c.704+1G>T
n.963+1G>T
c.149-1646G>T
c.813+1G>T (n.813+1G>T)
c.*578+1G>T (n.*578+1G>T)
c.*155+1G>T (n.*155+1G>T)
n.123+1G>T
c.411+1G>T (n.411+1G>T)
c.501+1G>T (n.501+1G>T)
1g.40078559C>GCA339846538PPT1c.723+1G>C (n.723+1G>C)
c.726+1G>C (n.726+1G>C)
c.417+1G>C (n.417+1G>C)
c.495+1G>C (n.495+1G>C)
c.69+1G>C (n.69+1G>C)
c.*349+1G>C (n.*349+1G>C)
c.704+1G>C
n.963+1G>C
c.149-1646G>C
c.813+1G>C (n.813+1G>C)
c.*578+1G>C (n.*578+1G>C)
c.*155+1G>C (n.*155+1G>C)
n.123+1G>C
c.411+1G>C (n.411+1G>C)
c.501+1G>C (n.501+1G>C)
1g.40078559C>TCA339846541PPT1c.723+1G>A (n.723+1G>A)
c.726+1G>A (n.726+1G>A)
c.417+1G>A (n.417+1G>A)
c.495+1G>A (n.495+1G>A)
c.69+1G>A (n.69+1G>A)
c.*349+1G>A (n.*349+1G>A)
c.704+1G>A
n.963+1G>A
c.149-1646G>A
c.813+1G>A (n.813+1G>A)
c.*578+1G>A (n.*578+1G>A)
c.*155+1G>A (n.*155+1G>A)
n.123+1G>A
c.411+1G>A (n.411+1G>A)
c.501+1G>A (n.501+1G>A)
1g.40078560C>ACA339846544PPT1c.723G>T (p.Glu241Asp)
c.726G>T (p.Glu242Asp)
c.417G>T (p.Glu139Asp)
c.495G>T (p.Glu165Asp)
c.69G>T (p.Glu23Asp)
c.*349G>T (n.*349G>T)
c.704G>T
n.963G>T
c.149-1647G>T
c.813G>T (p.Glu271Asp)
c.*578G>T (n.*578G>T)
c.*155G>T (n.*155G>T)
n.123G>T
c.411G>T (p.Glu137Asp)
c.501G>T (p.Glu167Asp)
1g.40078560C>GCA339846546PPT1c.723G>C (p.Glu241Asp)
c.726G>C (p.Glu242Asp)
c.417G>C (p.Glu139Asp)
c.495G>C (p.Glu165Asp)
c.69G>C (p.Glu23Asp)
c.*349G>C (n.*349G>C)
c.704G>C
n.963G>C
c.149-1647G>C
c.813G>C (p.Glu271Asp)
c.*578G>C (n.*578G>C)
c.*155G>C (n.*155G>C)
n.123G>C
c.411G>C (p.Glu137Asp)
c.501G>C (p.Glu167Asp)
1g.40078560C>TCA417322190PPT1c.723G>A (p.Glu241=)
c.726G>A (p.Glu242=)
c.417G>A (p.Glu139=)
c.495G>A (p.Glu165=)
c.69G>A (p.Glu23=)
c.*349G>A (n.*349G>A)
c.704G>A
n.963G>A
c.149-1647G>A
c.813G>A (p.Glu271=)
c.*578G>A (n.*578G>A)
c.*155G>A (n.*155G>A)
n.123G>A
c.411G>A (p.Glu137=)
c.501G>A (p.Glu167=)
1g.40078561T>ACA339846548PPT1c.722A>T (p.Glu241Val)
c.725A>T (p.Glu242Val)
c.416A>T (p.Glu139Val)
c.494A>T (p.Glu165Val)
c.68A>T (p.Glu23Val)
c.*348A>T (n.*348A>T)
c.703A>T
n.962A>T
c.149-1648A>T
c.812A>T (p.Glu271Val)
c.*577A>T (n.*577A>T)
c.*154A>T (n.*154A>T)
n.122A>T
c.410A>T (p.Glu137Val)
c.500A>T (p.Glu167Val)
1g.40078561T>CCA339846551PPT1c.722A>G (p.Glu241Gly)
c.725A>G (p.Glu242Gly)
c.416A>G (p.Glu139Gly)
c.494A>G (p.Glu165Gly)
c.68A>G (p.Glu23Gly)
c.*348A>G (n.*348A>G)
c.703A>G
n.962A>G
c.149-1648A>G
c.812A>G (p.Glu271Gly)
c.*577A>G (n.*577A>G)
c.*154A>G (n.*154A>G)
n.122A>G
c.410A>G (p.Glu137Gly)
c.500A>G (p.Glu167Gly)
1g.40078561T>GCA339846549PPT1c.722A>C (p.Glu241Ala)
c.725A>C (p.Glu242Ala)
c.416A>C (p.Glu139Ala)
c.494A>C (p.Glu165Ala)
c.68A>C (p.Glu23Ala)
c.*348A>C (n.*348A>C)
c.703A>C
n.962A>C
c.149-1648A>C
c.812A>C (p.Glu271Ala)
c.*577A>C (n.*577A>C)
c.*154A>C (n.*154A>C)
n.122A>C
c.410A>C (p.Glu137Ala)
c.500A>C (p.Glu167Ala)
1g.40078562C>ACA339846554PPT1c.721G>T (p.Glu241Ter)
c.724G>T (p.Glu242Ter)
c.415G>T (p.Glu139Ter)
c.493G>T (p.Glu165Ter)
c.67G>T (p.Glu23Ter)
c.*347G>T (n.*347G>T)
c.702G>T
n.961G>T
c.149-1649G>T
c.811G>T (p.Glu271Ter)
c.*576G>T (n.*576G>T)
c.*153G>T (n.*153G>T)
n.121G>T
c.409G>T (p.Glu137Ter)
c.499G>T (p.Glu167Ter)
1g.40078562C>GCA339846556PPT1c.721G>C (p.Glu241Gln)
c.724G>C (p.Glu242Gln)
c.415G>C (p.Glu139Gln)
c.493G>C (p.Glu165Gln)
c.67G>C (p.Glu23Gln)
c.*347G>C (n.*347G>C)
c.702G>C
n.961G>C
c.149-1649G>C
c.811G>C (p.Glu271Gln)
c.*576G>C (n.*576G>C)
c.*153G>C (n.*153G>C)
n.121G>C
c.409G>C (p.Glu137Gln)
c.499G>C (p.Glu167Gln)
1g.40078562C>TCA339846558PPT1c.721G>A (p.Glu241Lys)
c.724G>A (p.Glu242Lys)
c.415G>A (p.Glu139Lys)
c.493G>A (p.Glu165Lys)
c.67G>A (p.Glu23Lys)
c.*347G>A (n.*347G>A)
c.702G>A
n.961G>A
c.149-1649G>A
c.811G>A (p.Glu271Lys)
c.*576G>A (n.*576G>A)
c.*153G>A (n.*153G>A)
n.121G>A
c.409G>A (p.Glu137Lys)
c.499G>A (p.Glu167Lys)
1g.40078563C>ACA417322191PPT1c.720G>T (p.Ser240=)
c.723G>T (p.Ser241=)
c.414G>T (p.Ser138=)
c.492G>T (p.Ser164=)
c.66G>T (p.Ser22=)
c.*346G>T (n.*346G>T)
c.701G>T
n.960G>T
c.149-1650G>T
c.810G>T (p.Ser270=)
c.*575G>T (n.*575G>T)
c.*152G>T (n.*152G>T)
n.120G>T
c.408G>T (p.Ser136=)
c.498G>T (p.Ser166=)
 ClinVar
1g.40078563C=CA1164245519PPT1c.720G= (p.Ser240=)
c.723G= (p.Ser241=)
c.414G= (p.Ser138=)
c.492G= (p.Ser164=)
c.66G= (p.Ser22=)
c.*346G= (n.*346G=)
c.701G=
n.960G=
c.149-1650G=
c.810G= (p.Ser270=)
c.*575G= (n.*575G=)
c.*152G= (n.*152G=)
n.120G=
c.408G= (p.Ser136=)
c.498G= (p.Ser166=)
1g.40078563C>GCA417322192PPT1c.720G>C (p.Ser240=)
c.723G>C (p.Ser241=)
c.414G>C (p.Ser138=)
c.492G>C (p.Ser164=)
c.66G>C (p.Ser22=)
c.*346G>C (n.*346G>C)
c.701G>C
n.960G>C
c.149-1650G>C
c.810G>C (p.Ser270=)
c.*575G>C (n.*575G>C)
c.*152G>C (n.*152G>C)
n.120G>C
c.408G>C (p.Ser136=)
c.498G>C (p.Ser166=)
1g.40078563C>TCA789584PPT1c.720G>A (p.Ser240=)
c.723G>A (p.Ser241=)
c.414G>A (p.Ser138=)
c.492G>A (p.Ser164=)
c.66G>A (p.Ser22=)
c.*346G>A (n.*346G>A)
c.701G>A
n.960G>A
c.149-1650G>A
c.810G>A (p.Ser270=)
c.*575G>A (n.*575G>A)
c.*152G>A (n.*152G>A)
n.120G>A
c.408G>A (p.Ser136=)
c.498G>A (p.Ser166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078564G>ACA247056PPT1c.719C>T (p.Ser240Leu)
c.722C>T (p.Ser241Leu)
c.413C>T (p.Ser138Leu)
c.491C>T (p.Ser164Leu)
c.65C>T (p.Ser22Leu)
c.*345C>T (n.*345C>T)
c.700C>T
n.959C>T
c.149-1651C>T
c.809C>T (p.Ser270Leu)
c.*574C>T (n.*574C>T)
c.*151C>T (n.*151C>T)
n.119C>T
c.407C>T (p.Ser136Leu)
c.497C>T (p.Ser166Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078564G>CCA339846562PPT1c.719C>G (p.Ser240Trp)
c.722C>G (p.Ser241Trp)
c.413C>G (p.Ser138Trp)
c.491C>G (p.Ser164Trp)
c.65C>G (p.Ser22Trp)
c.*345C>G (n.*345C>G)
c.700C>G
n.959C>G
c.149-1651C>G
c.809C>G (p.Ser270Trp)
c.*574C>G (n.*574C>G)
c.*151C>G (n.*151C>G)
n.119C>G
c.407C>G (p.Ser136Trp)
c.497C>G (p.Ser166Trp)
1g.40078564G=CA1148280954PPT1c.719C= (p.Ser240=)
c.722C= (p.Ser241=)
c.413C= (p.Ser138=)
c.491C= (p.Ser164=)
c.65C= (p.Ser22=)
c.*345C= (n.*345C=)
c.700C=
n.959C=
c.149-1651C=
c.809C= (p.Ser270=)
c.*574C= (n.*574C=)
c.*151C= (n.*151C=)
n.119C=
c.407C= (p.Ser136=)
c.497C= (p.Ser166=)
1g.40078564G>TCA339846561PPT1c.719C>A (p.Ser240Ter)
c.722C>A (p.Ser241Ter)
c.413C>A (p.Ser138Ter)
c.491C>A (p.Ser164Ter)
c.65C>A (p.Ser22Ter)
c.*345C>A (n.*345C>A)
c.700C>A
n.959C>A
c.149-1651C>A
c.809C>A (p.Ser270Ter)
c.*574C>A (n.*574C>A)
c.*151C>A (n.*151C>A)
n.119C>A
c.407C>A (p.Ser136Ter)
c.497C>A (p.Ser166Ter)
 ClinVar
1g.40078564_40078565delCA913074740PPT1c.718_719del (p.Ser240GlyfsTer?)
c.721_722del (p.Ser241GlyfsTer29)
c.412_413del (p.Ser138GlyfsTer?)
c.490_491del (p.Ser164GlyfsTer?)
c.64_65del (p.Ser22GlyfsTer?)
c.*344_*345del (n.*344_*345del)
c.699_700del
n.958_959del
c.721_722del (p.Ser241GlyfsTer?)
c.149-1652_149-1651del
c.808_809del (p.Ser270GlyfsTer?)
c.*573_*574del (n.*573_*574del)
c.*150_*151del (n.*150_*151del)
n.118_119del
c.406_407del (p.Ser136GlyfsTer29)
c.496_497del (p.Ser166GlyfsTer?)
1g.40078564_40078565delinsGACA1164245520PPT1c.718_719delinsTC (p.Ser240=)
c.721_722delinsTC (p.Ser241=)
c.412_413delinsTC (p.Ser138=)
c.490_491delinsTC (p.Ser164=)
c.64_65delinsTC (p.Ser22=)
c.*344_*345delinsTC (n.*344_*345delinsTC)
c.699_700delinsTC
n.958_959delinsTC
c.149-1652_149-1651delinsTC
c.808_809delinsTC (p.Ser270=)
c.*573_*574delinsTC (n.*573_*574delinsTC)
c.*150_*151delinsTC (n.*150_*151delinsTC)
n.118_119delinsTC
c.406_407delinsTC (p.Ser136=)
c.496_497delinsTC (p.Ser166=)
1g.40078565A>CCA339846564PPT1c.718T>G (p.Ser240Ala)
c.721T>G (p.Ser241Ala)
c.412T>G (p.Ser138Ala)
c.490T>G (p.Ser164Ala)
c.64T>G (p.Ser22Ala)
c.*344T>G (n.*344T>G)
c.699T>G
n.958T>G
c.149-1652T>G
c.808T>G (p.Ser270Ala)
c.*573T>G (n.*573T>G)
c.*150T>G (n.*150T>G)
n.118T>G
c.406T>G (p.Ser136Ala)
c.496T>G (p.Ser166Ala)
1g.40078565A>GCA339846566PPT1c.718T>C (p.Ser240Pro)
c.721T>C (p.Ser241Pro)
c.412T>C (p.Ser138Pro)
c.490T>C (p.Ser164Pro)
c.64T>C (p.Ser22Pro)
c.*344T>C (n.*344T>C)
c.699T>C
n.958T>C
c.149-1652T>C
c.808T>C (p.Ser270Pro)
c.*573T>C (n.*573T>C)
c.*150T>C (n.*150T>C)
n.118T>C
c.406T>C (p.Ser136Pro)
c.496T>C (p.Ser166Pro)
1g.40078565A>TCA339846567PPT1c.718T>A (p.Ser240Thr)
c.721T>A (p.Ser241Thr)
c.412T>A (p.Ser138Thr)
c.490T>A (p.Ser164Thr)
c.64T>A (p.Ser22Thr)
c.*344T>A (n.*344T>A)
c.699T>A
n.958T>A
c.149-1652T>A
c.808T>A (p.Ser270Thr)
c.*573T>A (n.*573T>A)
c.*150T>A (n.*150T>A)
n.118T>A
c.406T>A (p.Ser136Thr)
c.496T>A (p.Ser166Thr)
1g.40078566delCA658821010PPT1c.718del (p.Ser240ArgfsTer?)
c.721del (p.Ser241ArgfsTer7)
c.412del (p.Ser138ArgfsTer?)
c.490del (p.Ser164ArgfsTer?)
c.64del (p.Ser22ArgfsTer?)
c.*344del (n.*344del)
c.699del
n.958del
c.721del (p.Ser241ArgfsTer?)
c.149-1652del
c.808del (p.Ser270ArgfsTer?)
c.*573del (n.*573del)
c.*150del (n.*150del)
n.118del
c.406del (p.Ser136ArgfsTer7)
c.496del (p.Ser166ArgfsTer?)
 ClinVar dbSNP
1g.40078566A>CCA339846568PPT1c.717T>G (p.Asp239Glu)
c.720T>G (p.Asp240Glu)
c.411T>G (p.Asp137Glu)
c.489T>G (p.Asp163Glu)
c.63T>G (p.Asp21Glu)
c.*343T>G (n.*343T>G)
c.698T>G
n.957T>G
c.149-1653T>G
c.807T>G (p.Asp269Glu)
c.*572T>G (n.*572T>G)
c.*149T>G (n.*149T>G)
n.117T>G
c.405T>G (p.Asp135Glu)
c.495T>G (p.Asp165Glu)
1g.40078566A>GCA417322193PPT1c.717T>C (p.Asp239=)
c.720T>C (p.Asp240=)
c.411T>C (p.Asp137=)
c.489T>C (p.Asp163=)
c.63T>C (p.Asp21=)
c.*343T>C (n.*343T>C)
c.698T>C
n.957T>C
c.149-1653T>C
c.807T>C (p.Asp269=)
c.*572T>C (n.*572T>C)
c.*149T>C (n.*149T>C)
n.117T>C
c.405T>C (p.Asp135=)
c.495T>C (p.Asp165=)
1g.40078566A>TCA339846570PPT1c.717T>A (p.Asp239Glu)
c.720T>A (p.Asp240Glu)
c.411T>A (p.Asp137Glu)
c.489T>A (p.Asp163Glu)
c.63T>A (p.Asp21Glu)
c.*343T>A (n.*343T>A)
c.698T>A
n.957T>A
c.149-1653T>A
c.807T>A (p.Asp269Glu)
c.*572T>A (n.*572T>A)
c.*149T>A (n.*149T>A)
n.117T>A
c.405T>A (p.Asp135Glu)
c.495T>A (p.Asp165Glu)
1g.40078567T>ACA339846572PPT1c.716A>T (p.Asp239Val)
c.719A>T (p.Asp240Val)
c.410A>T (p.Asp137Val)
c.488A>T (p.Asp163Val)
c.62A>T (p.Asp21Val)
c.*342A>T (n.*342A>T)
c.697A>T
n.956A>T
c.149-1654A>T
c.806A>T (p.Asp269Val)
c.*571A>T (n.*571A>T)
c.*148A>T (n.*148A>T)
n.116A>T
c.404A>T (p.Asp135Val)
c.494A>T (p.Asp165Val)
1g.40078567T>CCA339846574PPT1c.716A>G (p.Asp239Gly)
c.719A>G (p.Asp240Gly)
c.410A>G (p.Asp137Gly)
c.488A>G (p.Asp163Gly)
c.62A>G (p.Asp21Gly)
c.*342A>G (n.*342A>G)
c.697A>G
n.956A>G
c.149-1654A>G
c.806A>G (p.Asp269Gly)
c.*571A>G (n.*571A>G)
c.*148A>G (n.*148A>G)
n.116A>G
c.404A>G (p.Asp135Gly)
c.494A>G (p.Asp165Gly)
1g.40078567T>GCA339846576PPT1c.716A>C (p.Asp239Ala)
c.719A>C (p.Asp240Ala)
c.410A>C (p.Asp137Ala)
c.488A>C (p.Asp163Ala)
c.62A>C (p.Asp21Ala)
c.*342A>C (n.*342A>C)
c.697A>C
n.956A>C
c.149-1654A>C
c.806A>C (p.Asp269Ala)
c.*571A>C (n.*571A>C)
c.*148A>C (n.*148A>C)
n.116A>C
c.404A>C (p.Asp135Ala)
c.494A>C (p.Asp165Ala)
1g.40078568C>ACA339846578PPT1c.715G>T (p.Asp239Tyr)
c.718G>T (p.Asp240Tyr)
c.409G>T (p.Asp137Tyr)
c.487G>T (p.Asp163Tyr)
c.61G>T (p.Asp21Tyr)
c.*341G>T (n.*341G>T)
c.696G>T
n.955G>T
c.149-1655G>T
c.805G>T (p.Asp269Tyr)
c.*570G>T (n.*570G>T)
c.*147G>T (n.*147G>T)
n.115G>T
c.403G>T (p.Asp135Tyr)
c.493G>T (p.Asp165Tyr)
1g.40078568C=CA1164245521PPT1c.715G= (p.Asp239=)
c.718G= (p.Asp240=)
c.409G= (p.Asp137=)
c.487G= (p.Asp163=)
c.61G= (p.Asp21=)
c.*341G= (n.*341G=)
c.696G=
n.955G=
c.149-1655G=
c.805G= (p.Asp269=)
c.*570G= (n.*570G=)
c.*147G= (n.*147G=)
n.115G=
c.403G= (p.Asp135=)
c.493G= (p.Asp165=)
1g.40078568C>GCA339846580PPT1c.715G>C (p.Asp239His)
c.718G>C (p.Asp240His)
c.409G>C (p.Asp137His)
c.487G>C (p.Asp163His)
c.61G>C (p.Asp21His)
c.*341G>C (n.*341G>C)
c.696G>C
n.955G>C
c.149-1655G>C
c.805G>C (p.Asp269His)
c.*570G>C (n.*570G>C)
c.*147G>C (n.*147G>C)
n.115G>C
c.403G>C (p.Asp135His)
c.493G>C (p.Asp165His)
1g.40078568C>TCA316949PPT1c.715G>A (p.Asp239Asn)
c.718G>A (p.Asp240Asn)
c.409G>A (p.Asp137Asn)
c.487G>A (p.Asp163Asn)
c.61G>A (p.Asp21Asn)
c.*341G>A (n.*341G>A)
c.696G>A
n.955G>A
c.149-1655G>A
c.805G>A (p.Asp269Asn)
c.*570G>A (n.*570G>A)
c.*147G>A (n.*147G>A)
n.115G>A
c.403G>A (p.Asp135Asn)
c.493G>A (p.Asp165Asn)
 ClinVar dbSNP gnomAD v4
1g.40078569T>ACA417322194PPT1c.714A>T (p.Val238=)
c.717A>T (p.Val239=)
c.408A>T (p.Val136=)
c.486A>T (p.Val162=)
c.60A>T (p.Val20=)
c.*340A>T (n.*340A>T)
c.695A>T
n.954A>T
c.149-1656A>T
c.804A>T (p.Val268=)
c.*569A>T (n.*569A>T)
c.*146A>T (n.*146A>T)
n.114A>T
c.402A>T (p.Val134=)
c.492A>T (p.Val164=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078569T>CCA417322195PPT1c.714A>G (p.Val238=)
c.717A>G (p.Val239=)
c.408A>G (p.Val136=)
c.486A>G (p.Val162=)
c.60A>G (p.Val20=)
c.*340A>G (n.*340A>G)
c.695A>G
n.954A>G
c.149-1656A>G
c.804A>G (p.Val268=)
c.*569A>G (n.*569A>G)
c.*146A>G (n.*146A>G)
n.114A>G
c.402A>G (p.Val134=)
c.492A>G (p.Val164=)
 ClinVar dbSNP
1g.40078569T>GCA417322196PPT1c.714A>C (p.Val238=)
c.717A>C (p.Val239=)
c.408A>C (p.Val136=)
c.486A>C (p.Val162=)
c.60A>C (p.Val20=)
c.*340A>C (n.*340A>C)
c.695A>C
n.954A>C
c.149-1656A>C
c.804A>C (p.Val268=)
c.*569A>C (n.*569A>C)
c.*146A>C (n.*146A>C)
n.114A>C
c.402A>C (p.Val134=)
c.492A>C (p.Val164=)
1g.40078569T=CA1164245522PPT1c.714A= (p.Val238=)
c.717A= (p.Val239=)
c.408A= (p.Val136=)
c.486A= (p.Val162=)
c.60A= (p.Val20=)
c.*340A= (n.*340A=)
c.695A=
n.954A=
c.149-1656A=
c.804A= (p.Val268=)
c.*569A= (n.*569A=)
c.*146A= (n.*146A=)
n.114A=
c.402A= (p.Val134=)
c.492A= (p.Val164=)
1g.40078570A>CCA339846583PPT1c.713T>G (p.Val238Gly)
c.716T>G (p.Val239Gly)
c.407T>G (p.Val136Gly)
c.485T>G (p.Val162Gly)
c.59T>G (p.Val20Gly)
c.*339T>G (n.*339T>G)
c.694T>G
n.953T>G
c.149-1657T>G
c.803T>G (p.Val268Gly)
c.*568T>G (n.*568T>G)
c.*145T>G (n.*145T>G)
n.113T>G
c.401T>G (p.Val134Gly)
c.491T>G (p.Val164Gly)
1g.40078570A>GCA339846587PPT1c.713T>C (p.Val238Ala)
c.716T>C (p.Val239Ala)
c.407T>C (p.Val136Ala)
c.485T>C (p.Val162Ala)
c.59T>C (p.Val20Ala)
c.*339T>C (n.*339T>C)
c.694T>C
n.953T>C
c.149-1657T>C
c.803T>C (p.Val268Ala)
c.*568T>C (n.*568T>C)
c.*145T>C (n.*145T>C)
n.113T>C
c.401T>C (p.Val134Ala)
c.491T>C (p.Val164Ala)
1g.40078570A>TCA339846585PPT1c.713T>A (p.Val238Glu)
c.716T>A (p.Val239Glu)
c.407T>A (p.Val136Glu)
c.485T>A (p.Val162Glu)
c.59T>A (p.Val20Glu)
c.*339T>A (n.*339T>A)
c.694T>A
n.953T>A
c.149-1657T>A
c.803T>A (p.Val268Glu)
c.*568T>A (n.*568T>A)
c.*145T>A (n.*145T>A)
n.113T>A
c.401T>A (p.Val134Glu)
c.491T>A (p.Val164Glu)
1g.40078571C>ACA339846590PPT1c.712G>T (p.Val238Leu)
c.715G>T (p.Val239Leu)
c.406G>T (p.Val136Leu)
c.484G>T (p.Val162Leu)
c.58G>T (p.Val20Leu)
c.*338G>T (n.*338G>T)
c.693G>T
n.952G>T
c.149-1658G>T
c.802G>T (p.Val268Leu)
c.*567G>T (n.*567G>T)
c.*144G>T (n.*144G>T)
n.112G>T
c.400G>T (p.Val134Leu)
c.490G>T (p.Val164Leu)
1g.40078571C=CA1164245523PPT1c.712G= (p.Val238=)
c.715G= (p.Val239=)
c.406G= (p.Val136=)
c.484G= (p.Val162=)
c.58G= (p.Val20=)
c.*338G= (n.*338G=)
c.693G=
n.952G=
c.149-1658G=
c.802G= (p.Val268=)
c.*567G= (n.*567G=)
c.*144G= (n.*144G=)
n.112G=
c.400G= (p.Val134=)
c.490G= (p.Val164=)
1g.40078571C>GCA339846594PPT1c.712G>C (p.Val238Leu)
c.715G>C (p.Val239Leu)
c.406G>C (p.Val136Leu)
c.484G>C (p.Val162Leu)
c.58G>C (p.Val20Leu)
c.*338G>C (n.*338G>C)
c.693G>C
n.952G>C
c.149-1658G>C
c.802G>C (p.Val268Leu)
c.*567G>C (n.*567G>C)
c.*144G>C (n.*144G>C)
n.112G>C
c.400G>C (p.Val134Leu)
c.490G>C (p.Val164Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078571C>TCA339846592PPT1c.712G>A (p.Val238Ile)
c.715G>A (p.Val239Ile)
c.406G>A (p.Val136Ile)
c.484G>A (p.Val162Ile)
c.58G>A (p.Val20Ile)
c.*338G>A (n.*338G>A)
c.693G>A
n.952G>A
c.149-1658G>A
c.802G>A (p.Val268Ile)
c.*567G>A (n.*567G>A)
c.*144G>A (n.*144G>A)
n.112G>A
c.400G>A (p.Val134Ile)
c.490G>A (p.Val164Ile)
1g.40078572A>CCA417322197PPT1c.711T>G (p.Pro237=)
c.714T>G (p.Pro238=)
c.405T>G (p.Pro135=)
c.483T>G (p.Pro161=)
c.57T>G (p.Pro19=)
c.*337T>G (n.*337T>G)
c.692T>G
n.951T>G
c.149-1659T>G
c.801T>G (p.Pro267=)
c.*566T>G (n.*566T>G)
c.*143T>G (n.*143T>G)
n.111T>G
c.399T>G (p.Pro133=)
c.489T>G (p.Pro163=)
1g.40078572A>GCA417322198PPT1c.711T>C (p.Pro237=)
c.714T>C (p.Pro238=)
c.405T>C (p.Pro135=)
c.483T>C (p.Pro161=)
c.57T>C (p.Pro19=)
c.*337T>C (n.*337T>C)
c.692T>C
n.951T>C
c.149-1659T>C
c.801T>C (p.Pro267=)
c.*566T>C (n.*566T>C)
c.*143T>C (n.*143T>C)
n.111T>C
c.399T>C (p.Pro133=)
c.489T>C (p.Pro163=)
1g.40078572A>TCA417322199PPT1c.711T>A (p.Pro237=)
c.714T>A (p.Pro238=)
c.405T>A (p.Pro135=)
c.483T>A (p.Pro161=)
c.57T>A (p.Pro19=)
c.*337T>A (n.*337T>A)
c.692T>A
n.951T>A
c.149-1659T>A
c.801T>A (p.Pro267=)
c.*566T>A (n.*566T>A)
c.*143T>A (n.*143T>A)
n.111T>A
c.399T>A (p.Pro133=)
c.489T>A (p.Pro163=)
1g.40078573G>ACA10581621PPT1c.710C>T (p.Pro237Leu)
c.713C>T (p.Pro238Leu)
c.404C>T (p.Pro135Leu)
c.482C>T (p.Pro161Leu)
c.56C>T (p.Pro19Leu)
c.*336C>T (n.*336C>T)
c.691C>T
n.950C>T
c.149-1660C>T
c.800C>T (p.Pro267Leu)
c.*565C>T (n.*565C>T)
c.*142C>T (n.*142C>T)
n.110C>T
c.398C>T (p.Pro133Leu)
c.488C>T (p.Pro163Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.40078573G>CCA339846597PPT1c.710C>G (p.Pro237Arg)
c.713C>G (p.Pro238Arg)
c.404C>G (p.Pro135Arg)
c.482C>G (p.Pro161Arg)
c.56C>G (p.Pro19Arg)
c.*336C>G (n.*336C>G)
c.691C>G
n.950C>G
c.149-1660C>G
c.800C>G (p.Pro267Arg)
c.*565C>G (n.*565C>G)
c.*142C>G (n.*142C>G)
n.110C>G
c.398C>G (p.Pro133Arg)
c.488C>G (p.Pro163Arg)
1g.40078573G=CA1164245524PPT1c.710C= (p.Pro237=)
c.713C= (p.Pro238=)
c.404C= (p.Pro135=)
c.482C= (p.Pro161=)
c.56C= (p.Pro19=)
c.*336C= (n.*336C=)
c.691C=
n.950C=
c.149-1660C=
c.800C= (p.Pro267=)
c.*565C= (n.*565C=)
c.*142C= (n.*142C=)
n.110C=
c.398C= (p.Pro133=)
c.488C= (p.Pro163=)
1g.40078573G>TCA339846599PPT1c.710C>A (p.Pro237His)
c.713C>A (p.Pro238His)
c.404C>A (p.Pro135His)
c.482C>A (p.Pro161His)
c.56C>A (p.Pro19His)
c.*336C>A (n.*336C>A)
c.691C>A
n.950C>A
c.149-1660C>A
c.800C>A (p.Pro267His)
c.*565C>A (n.*565C>A)
c.*142C>A (n.*142C>A)
n.110C>A
c.398C>A (p.Pro133His)
c.488C>A (p.Pro163His)
1g.40078574_40078575delCA2499214702PPT1c.709_710del (p.Pro237CysfsTer?)
c.712_713del (p.Pro238CysfsTer?)
c.403_404del (p.Pro135CysfsTer?)
c.481_482del (p.Pro161CysfsTer?)
c.55_56del (p.Pro19CysfsTer?)
c.*335_*336del (n.*335_*336del)
c.690_691del
n.949_950del
c.149-1661_149-1660del
c.799_800del (p.Pro267CysfsTer?)
c.*564_*565del (n.*564_*565del)
c.*141_*142del (n.*141_*142del)
n.109_110del
c.397_398del (p.Pro133CysfsTer?)
c.487_488del (p.Pro163CysfsTer?)
 ClinVar dbSNP gnomAD v4
1g.40078574G>ACA339846600PPT1c.709C>T (p.Pro237Ser)
c.712C>T (p.Pro238Ser)
c.403C>T (p.Pro135Ser)
c.481C>T (p.Pro161Ser)
c.55C>T (p.Pro19Ser)
c.*335C>T (n.*335C>T)
c.690C>T
n.949C>T
c.149-1661C>T
c.799C>T (p.Pro267Ser)
c.*564C>T (n.*564C>T)
c.*141C>T (n.*141C>T)
n.109C>T
c.397C>T (p.Pro133Ser)
c.487C>T (p.Pro163Ser)
1g.40078574G>CCA339846602PPT1c.709C>G (p.Pro237Ala)
c.712C>G (p.Pro238Ala)
c.403C>G (p.Pro135Ala)
c.481C>G (p.Pro161Ala)
c.55C>G (p.Pro19Ala)
c.*335C>G (n.*335C>G)
c.690C>G
n.949C>G
c.149-1661C>G
c.799C>G (p.Pro267Ala)
c.*564C>G (n.*564C>G)
c.*141C>G (n.*141C>G)
n.109C>G
c.397C>G (p.Pro133Ala)
c.487C>G (p.Pro163Ala)
1g.40078574G>TCA339846604PPT1c.709C>A (p.Pro237Thr)
c.712C>A (p.Pro238Thr)
c.403C>A (p.Pro135Thr)
c.481C>A (p.Pro161Thr)
c.55C>A (p.Pro19Thr)
c.*335C>A (n.*335C>A)
c.690C>A
n.949C>A
c.149-1661C>A
c.799C>A (p.Pro267Thr)
c.*564C>A (n.*564C>A)
c.*141C>A (n.*141C>A)
n.109C>A
c.397C>A (p.Pro133Thr)
c.487C>A (p.Pro163Thr)
1g.40078574_40078578delinsTCTCA2580062730PPT1c.705_709delinsAGA (p.Pro237CysfsTer?)
c.708_712delinsAGA (p.Pro238CysfsTer?)
c.399_403delinsAGA (p.Pro135CysfsTer?)
c.477_481delinsAGA (p.Pro161CysfsTer?)
c.51_55delinsAGA (p.Pro19CysfsTer?)
c.*331_*335delinsAGA (n.*331_*335delinsAGA)
c.686_690delinsAGA
n.945_949delinsAGA
c.149-1665_149-1661delinsAGA
c.795_799delinsAGA (p.Pro267CysfsTer?)
c.*560_*564delinsAGA (n.*560_*564delinsAGA)
c.*137_*141delinsAGA (n.*137_*141delinsAGA)
n.105_109delinsAGA
c.393_397delinsAGA (p.Pro133CysfsTer?)
c.483_487delinsAGA (p.Pro163CysfsTer?)
 ClinVar
1g.40078575G>ACA417322200PPT1c.708C>T (p.Asp236=)
c.711C>T (p.Asp237=)
c.402C>T (p.Asp134=)
c.480C>T (p.Asp160=)
c.54C>T (p.Asp18=)
c.*334C>T (n.*334C>T)
c.689C>T
n.948C>T
c.149-1662C>T
c.798C>T (p.Asp266=)
c.*563C>T (n.*563C>T)
c.*140C>T (n.*140C>T)
n.108C>T
c.396C>T (p.Asp132=)
c.486C>T (p.Asp162=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.40078575G>CCA339846606PPT1c.708C>G (p.Asp236Glu)
c.711C>G (p.Asp237Glu)
c.402C>G (p.Asp134Glu)
c.480C>G (p.Asp160Glu)
c.54C>G (p.Asp18Glu)
c.*334C>G (n.*334C>G)
c.689C>G
n.948C>G
c.149-1662C>G
c.798C>G (p.Asp266Glu)
c.*563C>G (n.*563C>G)
c.*140C>G (n.*140C>G)
n.108C>G
c.396C>G (p.Asp132Glu)
c.486C>G (p.Asp162Glu)
1g.40078575G=CA1164245525PPT1c.708C= (p.Asp236=)
c.711C= (p.Asp237=)
c.402C= (p.Asp134=)
c.480C= (p.Asp160=)
c.54C= (p.Asp18=)
c.*334C= (n.*334C=)
c.689C=
n.948C=
c.149-1662C=
c.798C= (p.Asp266=)
c.*563C= (n.*563C=)
c.*140C= (n.*140C=)
n.108C=
c.396C= (p.Asp132=)
c.486C= (p.Asp162=)
1g.40078575G>TCA339846608PPT1c.708C>A (p.Asp236Glu)
c.711C>A (p.Asp237Glu)
c.402C>A (p.Asp134Glu)
c.480C>A (p.Asp160Glu)
c.54C>A (p.Asp18Glu)
c.*334C>A (n.*334C>A)
c.689C>A
n.948C>A
c.149-1662C>A
c.798C>A (p.Asp266Glu)
c.*563C>A (n.*563C>A)
c.*140C>A (n.*140C>A)
n.108C>A
c.396C>A (p.Asp132Glu)
c.486C>A (p.Asp162Glu)
1g.40078576T>ACA789585PPT1c.707A>T (p.Asp236Val)
c.710A>T (p.Asp237Val)
c.401A>T (p.Asp134Val)
c.479A>T (p.Asp160Val)
c.53A>T (p.Asp18Val)
c.*333A>T (n.*333A>T)
c.688A>T
n.947A>T
c.149-1663A>T
c.797A>T (p.Asp266Val)
c.*562A>T (n.*562A>T)
c.*139A>T (n.*139A>T)
n.107A>T
c.395A>T (p.Asp132Val)
c.485A>T (p.Asp162Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40078576T>CCA339846609PPT1c.707A>G (p.Asp236Gly)
c.710A>G (p.Asp237Gly)
c.401A>G (p.Asp134Gly)
c.479A>G (p.Asp160Gly)
c.53A>G (p.Asp18Gly)
c.*333A>G (n.*333A>G)
c.688A>G
n.947A>G
c.149-1663A>G
c.797A>G (p.Asp266Gly)
c.*562A>G (n.*562A>G)
c.*139A>G (n.*139A>G)
n.107A>G
c.395A>G (p.Asp132Gly)
c.485A>G (p.Asp162Gly)
1g.40078576T>GCA339846611PPT1c.707A>C (p.Asp236Ala)
c.710A>C (p.Asp237Ala)
c.401A>C (p.Asp134Ala)
c.479A>C (p.Asp160Ala)
c.53A>C (p.Asp18Ala)
c.*333A>C (n.*333A>C)
c.688A>C
n.947A>C
c.149-1663A>C
c.797A>C (p.Asp266Ala)
c.*562A>C (n.*562A>C)
c.*139A>C (n.*139A>C)
n.107A>C
c.395A>C (p.Asp132Ala)
c.485A>C (p.Asp162Ala)
1g.40078576T=CA1148009036PPT1c.707A= (p.Asp236=)
c.710A= (p.Asp237=)
c.401A= (p.Asp134=)
c.479A= (p.Asp160=)
c.53A= (p.Asp18=)
c.*333A= (n.*333A=)
c.688A=
n.947A=
c.149-1663A=
c.797A= (p.Asp266=)
c.*562A= (n.*562A=)
c.*139A= (n.*139A=)
n.107A=
c.395A= (p.Asp132=)
c.485A= (p.Asp162=)
1g.40078577C>ACA339846618PPT1c.706G>T (p.Asp236Tyr)
c.709G>T (p.Asp237Tyr)
c.400G>T (p.Asp134Tyr)
c.478G>T (p.Asp160Tyr)
c.52G>T (p.Asp18Tyr)
c.*332G>T (n.*332G>T)
c.687G>T
n.946G>T
c.149-1664G>T
c.796G>T (p.Asp266Tyr)
c.*561G>T (n.*561G>T)
c.*138G>T (n.*138G>T)
n.106G>T
c.394G>T (p.Asp132Tyr)
c.484G>T (p.Asp162Tyr)
1g.40078577C>GCA339846616PPT1c.706G>C (p.Asp236His)
c.709G>C (p.Asp237His)
c.400G>C (p.Asp134His)
c.478G>C (p.Asp160His)
c.52G>C (p.Asp18His)
c.*332G>C (n.*332G>C)
c.687G>C
n.946G>C
c.149-1664G>C
c.796G>C (p.Asp266His)
c.*561G>C (n.*561G>C)
c.*138G>C (n.*138G>C)
n.106G>C
c.394G>C (p.Asp132His)
c.484G>C (p.Asp162His)
1g.40078577C>TCA339846614PPT1c.706G>A (p.Asp236Asn)
c.709G>A (p.Asp237Asn)
c.400G>A (p.Asp134Asn)
c.478G>A (p.Asp160Asn)
c.52G>A (p.Asp18Asn)
c.*332G>A (n.*332G>A)
c.687G>A
n.946G>A
c.149-1664G>A
c.796G>A (p.Asp266Asn)
c.*561G>A (n.*561G>A)
c.*138G>A (n.*138G>A)
n.106G>A
c.394G>A (p.Asp132Asn)
c.484G>A (p.Asp162Asn)
1g.40078578C>ACA417322201PPT1c.705G>T (p.Val235=)
c.708G>T (p.Val236=)
c.399G>T (p.Val133=)
c.477G>T (p.Val159=)
c.51G>T (p.Val17=)
c.*331G>T (n.*331G>T)
c.686G>T
n.945G>T
c.149-1665G>T
c.795G>T (p.Val265=)
c.*560G>T (n.*560G>T)
c.*137G>T (n.*137G>T)
n.105G>T
c.393G>T (p.Val131=)
c.483G>T (p.Val161=)
1g.40078578C>GCA417322202PPT1c.705G>C (p.Val235=)
c.708G>C (p.Val236=)
c.399G>C (p.Val133=)
c.477G>C (p.Val159=)
c.51G>C (p.Val17=)
c.*331G>C (n.*331G>C)
c.686G>C
n.945G>C
c.149-1665G>C
c.795G>C (p.Val265=)
c.*560G>C (n.*560G>C)
c.*137G>C (n.*137G>C)
n.105G>C
c.393G>C (p.Val131=)
c.483G>C (p.Val161=)
1g.40078578C>TCA417322203PPT1c.705G>A (p.Val235=)
c.708G>A (p.Val236=)
c.399G>A (p.Val133=)
c.477G>A (p.Val159=)
c.51G>A (p.Val17=)
c.*331G>A (n.*331G>A)
c.686G>A
n.945G>A
c.149-1665G>A
c.795G>A (p.Val265=)
c.*560G>A (n.*560G>A)
c.*137G>A (n.*137G>A)
n.105G>A
c.393G>A (p.Val131=)
c.483G>A (p.Val161=)
 gnomAD v4
1g.40078579A=CA1164245526PPT1c.704T= (p.Val235=)
c.707T= (p.Val236=)
c.398T= (p.Val133=)
c.476T= (p.Val159=)
c.50T= (p.Val17=)
c.*330T= (n.*330T=)
c.685T=
n.944T=
c.149-1666T=
c.794T= (p.Val265=)
c.*559T= (n.*559T=)
c.*136T= (n.*136T=)
n.104T=
c.392T= (p.Val131=)
c.482T= (p.Val161=)
1g.40078579A>CCA339846619PPT1c.704T>G (p.Val235Gly)
c.707T>G (p.Val236Gly)
c.398T>G (p.Val133Gly)
c.476T>G (p.Val159Gly)
c.50T>G (p.Val17Gly)
c.*330T>G (n.*330T>G)
c.685T>G
n.944T>G
c.149-1666T>G
c.794T>G (p.Val265Gly)
c.*559T>G (n.*559T>G)
c.*136T>G (n.*136T>G)
n.104T>G
c.392T>G (p.Val131Gly)
c.482T>G (p.Val161Gly)
1g.40078579A>GCA339846622PPT1c.704T>C (p.Val235Ala)
c.707T>C (p.Val236Ala)
c.398T>C (p.Val133Ala)
c.476T>C (p.Val159Ala)
c.50T>C (p.Val17Ala)
c.*330T>C (n.*330T>C)
c.685T>C
n.944T>C
c.149-1666T>C
c.794T>C (p.Val265Ala)
c.*559T>C (n.*559T>C)
c.*136T>C (n.*136T>C)
n.104T>C
c.392T>C (p.Val131Ala)
c.482T>C (p.Val161Ala)
1g.40078579A>TCA10581622PPT1c.704T>A (p.Val235Glu)
c.707T>A (p.Val236Glu)
c.398T>A (p.Val133Glu)
c.476T>A (p.Val159Glu)
c.50T>A (p.Val17Glu)
c.*330T>A (n.*330T>A)
c.685T>A
n.944T>A
c.149-1666T>A
c.794T>A (p.Val265Glu)
c.*559T>A (n.*559T>A)
c.*136T>A (n.*136T>A)
n.104T>A
c.392T>A (p.Val131Glu)
c.482T>A (p.Val161Glu)
 ClinVar dbSNP gnomAD v4
1g.40078580C>ACA339846626PPT1c.703G>T (p.Val235Leu)
c.706G>T (p.Val236Leu)
c.397G>T (p.Val133Leu)
c.475G>T (p.Val159Leu)
c.49G>T (p.Val17Leu)
c.*329G>T (n.*329G>T)
c.684G>T
n.943G>T
c.149-1667G>T
c.793G>T (p.Val265Leu)
c.*558G>T (n.*558G>T)
c.*135G>T (n.*135G>T)
n.103G>T
c.391G>T (p.Val131Leu)
c.481G>T (p.Val161Leu)
1g.40078580C>GCA339846628PPT1c.703G>C (p.Val235Leu)
c.706G>C (p.Val236Leu)
c.397G>C (p.Val133Leu)
c.475G>C (p.Val159Leu)
c.49G>C (p.Val17Leu)
c.*329G>C (n.*329G>C)
c.684G>C
n.943G>C
c.149-1667G>C
c.793G>C (p.Val265Leu)
c.*558G>C (n.*558G>C)
c.*135G>C (n.*135G>C)
n.103G>C
c.391G>C (p.Val131Leu)
c.481G>C (p.Val161Leu)
1g.40078580C>TCA339846629PPT1c.703G>A (p.Val235Met)
c.706G>A (p.Val236Met)
c.397G>A (p.Val133Met)
c.475G>A (p.Val159Met)
c.49G>A (p.Val17Met)
c.*329G>A (n.*329G>A)
c.684G>A
n.943G>A
c.149-1667G>A
c.793G>A (p.Val265Met)
c.*558G>A (n.*558G>A)
c.*135G>A (n.*135G>A)
n.103G>A
c.391G>A (p.Val131Met)
c.481G>A (p.Val161Met)
1g.40078581A=CA1164245527PPT1c.702T= (p.Ile234=)
c.705T= (p.Ile235=)
c.396T= (p.Ile132=)
c.474T= (p.Ile158=)
c.48T= (p.Ile16=)
c.*328T= (n.*328T=)
c.683T=
n.942T=
c.149-1668T=
c.792T= (p.Ile264=)
c.*557T= (n.*557T=)
c.*134T= (n.*134T=)
n.102T=
c.390T= (p.Ile130=)
c.480T= (p.Ile160=)
1g.40078581A>CCA339846630PPT1c.702T>G (p.Ile234Met)
c.705T>G (p.Ile235Met)
c.396T>G (p.Ile132Met)
c.474T>G (p.Ile158Met)
c.48T>G (p.Ile16Met)
c.*328T>G (n.*328T>G)
c.683T>G
n.942T>G
c.149-1668T>G
c.792T>G (p.Ile264Met)
c.*557T>G (n.*557T>G)
c.*134T>G (n.*134T>G)
n.102T>G
c.390T>G (p.Ile130Met)
c.480T>G (p.Ile160Met)
1g.40078581A>GCA10610994PPT1c.702T>C (p.Ile234=)
c.705T>C (p.Ile235=)
c.396T>C (p.Ile132=)
c.474T>C (p.Ile158=)
c.48T>C (p.Ile16=)
c.*328T>C (n.*328T>C)
c.683T>C
n.942T>C
c.149-1668T>C
c.792T>C (p.Ile264=)
c.*557T>C (n.*557T>C)
c.*134T>C (n.*134T>C)
n.102T>C
c.390T>C (p.Ile130=)
c.480T>C (p.Ile160=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40078581A>TCA417322204PPT1c.702T>A (p.Ile234=)
c.705T>A (p.Ile235=)
c.396T>A (p.Ile132=)
c.474T>A (p.Ile158=)
c.48T>A (p.Ile16=)
c.*328T>A (n.*328T>A)
c.683T>A
n.942T>A
c.149-1668T>A
c.792T>A (p.Ile264=)
c.*557T>A (n.*557T>A)
c.*134T>A (n.*134T>A)
n.102T>A
c.390T>A (p.Ile130=)
c.480T>A (p.Ile160=)
1g.40078582A>CCA339846634PPT1c.701T>G (p.Ile234Ser)
c.704T>G (p.Ile235Ser)
c.395T>G (p.Ile132Ser)
c.473T>G (p.Ile158Ser)
c.47T>G (p.Ile16Ser)
c.*327T>G (n.*327T>G)
c.682T>G
n.941T>G
c.149-1669T>G
c.791T>G (p.Ile264Ser)
c.*556T>G (n.*556T>G)
c.*133T>G (n.*133T>G)
n.101T>G
c.389T>G (p.Ile130Ser)
c.479T>G (p.Ile160Ser)
1g.40078582A>GCA339846635PPT1c.701T>C (p.Ile234Thr)
c.704T>C (p.Ile235Thr)
c.395T>C (p.Ile132Thr)
c.473T>C (p.Ile158Thr)
c.47T>C (p.Ile16Thr)
c.*327T>C (n.*327T>C)
c.682T>C
n.941T>C
c.149-1669T>C
c.791T>C (p.Ile264Thr)
c.*556T>C (n.*556T>C)
c.*133T>C (n.*133T>C)
n.101T>C
c.389T>C (p.Ile130Thr)
c.479T>C (p.Ile160Thr)
 ClinVar gnomAD v4
1g.40078582A>TCA339846636PPT1c.701T>A (p.Ile234Asn)
c.704T>A (p.Ile235Asn)
c.395T>A (p.Ile132Asn)
c.473T>A (p.Ile158Asn)
c.47T>A (p.Ile16Asn)
c.*327T>A (n.*327T>A)
c.682T>A
n.941T>A
c.149-1669T>A
c.791T>A (p.Ile264Asn)
c.*556T>A (n.*556T>A)
c.*133T>A (n.*133T>A)
n.101T>A
c.389T>A (p.Ile130Asn)
c.479T>A (p.Ile160Asn)
1g.40078583T>ACA339846642PPT1c.700A>T (p.Ile234Phe)
c.703A>T (p.Ile235Phe)
c.394A>T (p.Ile132Phe)
c.472A>T (p.Ile158Phe)
c.46A>T (p.Ile16Phe)
c.*326A>T (n.*326A>T)
c.681A>T
n.940A>T
c.149-1670A>T
c.790A>T (p.Ile264Phe)
c.*555A>T (n.*555A>T)
c.*132A>T (n.*132A>T)
n.100A>T
c.388A>T (p.Ile130Phe)
c.478A>T (p.Ile160Phe)
1g.40078583T>CCA339846641PPT1c.700A>G (p.Ile234Val)
c.703A>G (p.Ile235Val)
c.394A>G (p.Ile132Val)
c.472A>G (p.Ile158Val)
c.46A>G (p.Ile16Val)
c.*326A>G (n.*326A>G)
c.681A>G
n.940A>G
c.149-1670A>G
c.790A>G (p.Ile264Val)
c.*555A>G (n.*555A>G)
c.*132A>G (n.*132A>G)
n.100A>G
c.388A>G (p.Ile130Val)
c.478A>G (p.Ile160Val)
1g.40078583T>GCA339846639PPT1c.700A>C (p.Ile234Leu)
c.703A>C (p.Ile235Leu)
c.394A>C (p.Ile132Leu)
c.472A>C (p.Ile158Leu)
c.46A>C (p.Ile16Leu)
c.*326A>C (n.*326A>C)
c.681A>C
n.940A>C
c.149-1670A>C
c.790A>C (p.Ile264Leu)
c.*555A>C (n.*555A>C)
c.*132A>C (n.*132A>C)
n.100A>C
c.388A>C (p.Ile130Leu)
c.478A>C (p.Ile160Leu)
1g.40078584G>ACA789586PPT1c.699C>T (p.Ser233=)
c.702C>T (p.Ser234=)
c.393C>T (p.Ser131=)
c.471C>T (p.Ser157=)
c.45C>T (p.Ser15=)
c.*325C>T (n.*325C>T)
c.680C>T
n.939C>T
c.149-1671C>T
c.789C>T (p.Ser263=)
c.*554C>T (n.*554C>T)
c.*131C>T (n.*131C>T)
n.99C>T
c.387C>T (p.Ser129=)
c.477C>T (p.Ser159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078584G>CCA417322205PPT1c.699C>G (p.Ser233=)
c.702C>G (p.Ser234=)
c.393C>G (p.Ser131=)
c.471C>G (p.Ser157=)
c.45C>G (p.Ser15=)
c.*325C>G (n.*325C>G)
c.680C>G
n.939C>G
c.149-1671C>G
c.789C>G (p.Ser263=)
c.*554C>G (n.*554C>G)
c.*131C>G (n.*131C>G)
n.99C>G
c.387C>G (p.Ser129=)
c.477C>G (p.Ser159=)
1g.40078584G=CA1164245528PPT1c.699C= (p.Ser233=)
c.702C= (p.Ser234=)
c.393C= (p.Ser131=)
c.471C= (p.Ser157=)
c.45C= (p.Ser15=)
c.*325C= (n.*325C=)
c.680C=
n.939C=
c.149-1671C=
c.789C= (p.Ser263=)
c.*554C= (n.*554C=)
c.*131C= (n.*131C=)
n.99C=
c.387C= (p.Ser129=)
c.477C= (p.Ser159=)
1g.40078584G>TCA417322206PPT1c.699C>A (p.Ser233=)
c.702C>A (p.Ser234=)
c.393C>A (p.Ser131=)
c.471C>A (p.Ser157=)
c.45C>A (p.Ser15=)
c.*325C>A (n.*325C>A)
c.680C>A
n.939C>A
c.149-1671C>A
c.789C>A (p.Ser263=)
c.*554C>A (n.*554C>A)
c.*131C>A (n.*131C>A)
n.99C>A
c.387C>A (p.Ser129=)
c.477C>A (p.Ser159=)
1g.40078585G>ACA339846645PPT1c.698C>T (p.Ser233Phe)
c.701C>T (p.Ser234Phe)
c.392C>T (p.Ser131Phe)
c.470C>T (p.Ser157Phe)
c.44C>T (p.Ser15Phe)
c.*324C>T (n.*324C>T)
c.679C>T
n.938C>T
c.149-1672C>T
c.788C>T (p.Ser263Phe)
c.*553C>T (n.*553C>T)
c.*130C>T (n.*130C>T)
n.98C>T
c.386C>T (p.Ser129Phe)
c.476C>T (p.Ser159Phe)
1g.40078585G>CCA339846647PPT1c.698C>G (p.Ser233Cys)
c.701C>G (p.Ser234Cys)
c.392C>G (p.Ser131Cys)
c.470C>G (p.Ser157Cys)
c.44C>G (p.Ser15Cys)
c.*324C>G (n.*324C>G)
c.679C>G
n.938C>G
c.149-1672C>G
c.788C>G (p.Ser263Cys)
c.*553C>G (n.*553C>G)
c.*130C>G (n.*130C>G)
n.98C>G
c.386C>G (p.Ser129Cys)
c.476C>G (p.Ser159Cys)
1g.40078585G>TCA339846649PPT1c.698C>A (p.Ser233Tyr)
c.701C>A (p.Ser234Tyr)
c.392C>A (p.Ser131Tyr)
c.470C>A (p.Ser157Tyr)
c.44C>A (p.Ser15Tyr)
c.*324C>A (n.*324C>A)
c.679C>A
n.938C>A
c.149-1672C>A
c.788C>A (p.Ser263Tyr)
c.*553C>A (n.*553C>A)
c.*130C>A (n.*130C>A)
n.98C>A
c.386C>A (p.Ser129Tyr)
c.476C>A (p.Ser159Tyr)
1g.40078586A>CCA339846651PPT1c.697T>G (p.Ser233Ala)
c.700T>G (p.Ser234Ala)
c.391T>G (p.Ser131Ala)
c.469T>G (p.Ser157Ala)
c.43T>G (p.Ser15Ala)
c.*323T>G (n.*323T>G)
c.678T>G
n.937T>G
c.149-1673T>G
c.787T>G (p.Ser263Ala)
c.*552T>G (n.*552T>G)
c.*129T>G (n.*129T>G)
n.97T>G
c.385T>G (p.Ser129Ala)
c.475T>G (p.Ser159Ala)
1g.40078586A>GCA339846653PPT1c.697T>C (p.Ser233Pro)
c.700T>C (p.Ser234Pro)
c.391T>C (p.Ser131Pro)
c.469T>C (p.Ser157Pro)
c.43T>C (p.Ser15Pro)
c.*323T>C (n.*323T>C)
c.678T>C
n.937T>C
c.149-1673T>C
c.787T>C (p.Ser263Pro)
c.*552T>C (n.*552T>C)
c.*129T>C (n.*129T>C)
n.97T>C
c.385T>C (p.Ser129Pro)
c.475T>C (p.Ser159Pro)
1g.40078586A>TCA339846655PPT1c.697T>A (p.Ser233Thr)
c.700T>A (p.Ser234Thr)
c.391T>A (p.Ser131Thr)
c.469T>A (p.Ser157Thr)
c.43T>A (p.Ser15Thr)
c.*323T>A (n.*323T>A)
c.678T>A
n.937T>A
c.149-1673T>A
c.787T>A (p.Ser263Thr)
c.*552T>A (n.*552T>A)
c.*129T>A (n.*129T>A)
n.97T>A
c.385T>A (p.Ser129Thr)
c.475T>A (p.Ser159Thr)
1g.40078587A>CCA339846660PPT1c.696T>G (p.Asp232Glu)
c.699T>G (p.Asp233Glu)
c.390T>G (p.Asp130Glu)
c.468T>G (p.Asp156Glu)
c.42T>G (p.Asp14Glu)
c.*322T>G (n.*322T>G)
c.677T>G
n.936T>G
c.149-1674T>G
c.786T>G (p.Asp262Glu)
c.*551T>G (n.*551T>G)
c.*128T>G (n.*128T>G)
n.96T>G
c.384T>G (p.Asp128Glu)
c.474T>G (p.Asp158Glu)
1g.40078587A>GCA417322207PPT1c.696T>C (p.Asp232=)
c.699T>C (p.Asp233=)
c.390T>C (p.Asp130=)
c.468T>C (p.Asp156=)
c.42T>C (p.Asp14=)
c.*322T>C (n.*322T>C)
c.677T>C
n.936T>C
c.149-1674T>C
c.786T>C (p.Asp262=)
c.*551T>C (n.*551T>C)
c.*128T>C (n.*128T>C)
n.96T>C
c.384T>C (p.Asp128=)
c.474T>C (p.Asp158=)
 gnomAD v4
1g.40078587A>TCA339846662PPT1c.696T>A (p.Asp232Glu)
c.699T>A (p.Asp233Glu)
c.390T>A (p.Asp130Glu)
c.468T>A (p.Asp156Glu)
c.42T>A (p.Asp14Glu)
c.*322T>A (n.*322T>A)
c.677T>A
n.936T>A
c.149-1674T>A
c.786T>A (p.Asp262Glu)
c.*551T>A (n.*551T>A)
c.*128T>A (n.*128T>A)
n.96T>A
c.384T>A (p.Asp128Glu)
c.474T>A (p.Asp158Glu)
1g.40078588T>ACA339846664PPT1c.695A>T (p.Asp232Val)
c.698A>T (p.Asp233Val)
c.389A>T (p.Asp130Val)
c.467A>T (p.Asp156Val)
c.41A>T (p.Asp14Val)
c.*321A>T (n.*321A>T)
c.676A>T
n.935A>T
c.149-1675A>T
c.785A>T (p.Asp262Val)
c.*550A>T (n.*550A>T)
c.*127A>T (n.*127A>T)
n.95A>T
c.383A>T (p.Asp128Val)
c.473A>T (p.Asp158Val)
1g.40078588T>CCA339846666PPT1c.695A>G (p.Asp232Gly)
c.698A>G (p.Asp233Gly)
c.389A>G (p.Asp130Gly)
c.467A>G (p.Asp156Gly)
c.41A>G (p.Asp14Gly)
c.*321A>G (n.*321A>G)
c.676A>G
n.935A>G
c.149-1675A>G
c.785A>G (p.Asp262Gly)
c.*550A>G (n.*550A>G)
c.*127A>G (n.*127A>G)
n.95A>G
c.383A>G (p.Asp128Gly)
c.473A>G (p.Asp158Gly)
1g.40078588T>GCA339846668PPT1c.695A>C (p.Asp232Ala)
c.698A>C (p.Asp233Ala)
c.389A>C (p.Asp130Ala)
c.467A>C (p.Asp156Ala)
c.41A>C (p.Asp14Ala)
c.*321A>C (n.*321A>C)
c.676A>C
n.935A>C
c.149-1675A>C
c.785A>C (p.Asp262Ala)
c.*550A>C (n.*550A>C)
c.*127A>C (n.*127A>C)
n.95A>C
c.383A>C (p.Asp128Ala)
c.473A>C (p.Asp158Ala)
1g.40078589C>ACA339846674PPT1c.694G>T (p.Asp232Tyr)
c.697G>T (p.Asp233Tyr)
c.388G>T (p.Asp130Tyr)
c.466G>T (p.Asp156Tyr)
c.40G>T (p.Asp14Tyr)
c.*320G>T (n.*320G>T)
c.675G>T
n.934G>T
c.149-1676G>T
c.784G>T (p.Asp262Tyr)
c.*549G>T (n.*549G>T)
c.*126G>T (n.*126G>T)
n.94G>T
c.382G>T (p.Asp128Tyr)
c.472G>T (p.Asp158Tyr)
1g.40078589C>GCA339846672PPT1c.694G>C (p.Asp232His)
c.697G>C (p.Asp233His)
c.388G>C (p.Asp130His)
c.466G>C (p.Asp156His)
c.40G>C (p.Asp14His)
c.*320G>C (n.*320G>C)
c.675G>C
n.934G>C
c.149-1676G>C
c.784G>C (p.Asp262His)
c.*549G>C (n.*549G>C)
c.*126G>C (n.*126G>C)
n.94G>C
c.382G>C (p.Asp128His)
c.472G>C (p.Asp158His)
1g.40078589C>TCA339846670PPT1c.694G>A (p.Asp232Asn)
c.697G>A (p.Asp233Asn)
c.388G>A (p.Asp130Asn)
c.466G>A (p.Asp156Asn)
c.40G>A (p.Asp14Asn)
c.*320G>A (n.*320G>A)
c.675G>A
n.934G>A
c.149-1676G>A
c.784G>A (p.Asp262Asn)
c.*549G>A (n.*549G>A)
c.*126G>A (n.*126G>A)
n.94G>A
c.382G>A (p.Asp128Asn)
c.472G>A (p.Asp158Asn)
1g.40078590A=CA1148412025PPT1c.693T= (p.Asn231=)
c.696T= (p.Asn232=)
c.387T= (p.Asn129=)
c.465T= (p.Asn155=)
c.39T= (p.Asn13=)
c.*319T= (n.*319T=)
c.674T=
n.933T=
c.149-1677T=
c.783T= (p.Asn261=)
c.*548T= (n.*548T=)
c.*125T= (n.*125T=)
n.93T=
c.381T= (p.Asn127=)
c.471T= (p.Asn157=)
1g.40078590A>CCA339846676PPT1c.693T>G (p.Asn231Lys)
c.696T>G (p.Asn232Lys)
c.387T>G (p.Asn129Lys)
c.465T>G (p.Asn155Lys)
c.39T>G (p.Asn13Lys)
c.*319T>G (n.*319T>G)
c.674T>G
n.933T>G
c.149-1677T>G
c.783T>G (p.Asn261Lys)
c.*548T>G (n.*548T>G)
c.*125T>G (n.*125T>G)
n.93T>G
c.381T>G (p.Asn127Lys)
c.471T>G (p.Asn157Lys)
 ClinVar
1g.40078590A>GCA789587PPT1c.693T>C (p.Asn231=)
c.696T>C (p.Asn232=)
c.387T>C (p.Asn129=)
c.465T>C (p.Asn155=)
c.39T>C (p.Asn13=)
c.*319T>C (n.*319T>C)
c.674T>C
n.933T>C
c.149-1677T>C
c.783T>C (p.Asn261=)
c.*548T>C (n.*548T>C)
c.*125T>C (n.*125T>C)
n.93T>C
c.381T>C (p.Asn127=)
c.471T>C (p.Asn157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.40078590A>TCA339846679PPT1c.693T>A (p.Asn231Lys)
c.696T>A (p.Asn232Lys)
c.387T>A (p.Asn129Lys)
c.465T>A (p.Asn155Lys)
c.39T>A (p.Asn13Lys)
c.*319T>A (n.*319T>A)
c.674T>A
n.933T>A
c.149-1677T>A
c.783T>A (p.Asn261Lys)
c.*548T>A (n.*548T>A)
c.*125T>A (n.*125T>A)
n.93T>A
c.381T>A (p.Asn127Lys)
c.471T>A (p.Asn157Lys)
1g.40078591T>ACA339846680PPT1c.692A>T (p.Asn231Ile)
c.695A>T (p.Asn232Ile)
c.386A>T (p.Asn129Ile)
c.464A>T (p.Asn155Ile)
c.38A>T (p.Asn13Ile)
c.*318A>T (n.*318A>T)
c.673A>T
n.932A>T
c.149-1678A>T
c.782A>T (p.Asn261Ile)
c.*547A>T (n.*547A>T)
c.*124A>T (n.*124A>T)
n.92A>T
c.380A>T (p.Asn127Ile)
c.470A>T (p.Asn157Ile)
1g.40078591T>CCA789588PPT1c.692A>G (p.Asn231Ser)
c.695A>G (p.Asn232Ser)
c.386A>G (p.Asn129Ser)
c.464A>G (p.Asn155Ser)
c.38A>G (p.Asn13Ser)
c.*318A>G (n.*318A>G)
c.673A>G
n.932A>G
c.149-1678A>G
c.782A>G (p.Asn261Ser)
c.*547A>G (n.*547A>G)
c.*124A>G (n.*124A>G)
n.92A>G
c.380A>G (p.Asn127Ser)
c.470A>G (p.Asn157Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078591T>GCA339846684PPT1c.692A>C (p.Asn231Thr)
c.695A>C (p.Asn232Thr)
c.386A>C (p.Asn129Thr)
c.464A>C (p.Asn155Thr)
c.38A>C (p.Asn13Thr)
c.*318A>C (n.*318A>C)
c.673A>C
n.932A>C
c.149-1678A>C
c.782A>C (p.Asn261Thr)
c.*547A>C (n.*547A>C)
c.*124A>C (n.*124A>C)
n.92A>C
c.380A>C (p.Asn127Thr)
c.470A>C (p.Asn157Thr)
 gnomAD v4 COSMIC
1g.40078591T=CA1164245529PPT1c.692A= (p.Asn231=)
c.695A= (p.Asn232=)
c.386A= (p.Asn129=)
c.464A= (p.Asn155=)
c.38A= (p.Asn13=)
c.*318A= (n.*318A=)
c.673A=
n.932A=
c.149-1678A=
c.782A= (p.Asn261=)
c.*547A= (n.*547A=)
c.*124A= (n.*124A=)
n.92A=
c.380A= (p.Asn127=)
c.470A= (p.Asn157=)
1g.40078592T>ACA339846685PPT1c.691A>T (p.Asn231Tyr)
c.694A>T (p.Asn232Tyr)
c.385A>T (p.Asn129Tyr)
c.463A>T (p.Asn155Tyr)
c.37A>T (p.Asn13Tyr)
c.*317A>T (n.*317A>T)
c.672A>T
n.931A>T
c.149-1679A>T
c.781A>T (p.Asn261Tyr)
c.*546A>T (n.*546A>T)
c.*123A>T (n.*123A>T)
n.91A>T
c.379A>T (p.Asn127Tyr)
c.469A>T (p.Asn157Tyr)
1g.40078592T>CCA339846687PPT1c.691A>G (p.Asn231Asp)
c.694A>G (p.Asn232Asp)
c.385A>G (p.Asn129Asp)
c.463A>G (p.Asn155Asp)
c.37A>G (p.Asn13Asp)
c.*317A>G (n.*317A>G)
c.672A>G
n.931A>G
c.149-1679A>G
c.781A>G (p.Asn261Asp)
c.*546A>G (n.*546A>G)
c.*123A>G (n.*123A>G)
n.91A>G
c.379A>G (p.Asn127Asp)
c.469A>G (p.Asn157Asp)
1g.40078592T>GCA339846689PPT1c.691A>C (p.Asn231His)
c.694A>C (p.Asn232His)
c.385A>C (p.Asn129His)
c.463A>C (p.Asn155His)
c.37A>C (p.Asn13His)
c.*317A>C (n.*317A>C)
c.672A>C
n.931A>C
c.149-1679A>C
c.781A>C (p.Asn261His)
c.*546A>C (n.*546A>C)
c.*123A>C (n.*123A>C)
n.91A>C
c.379A>C (p.Asn127His)
c.469A>C (p.Asn157His)
1g.40078593G>ACA417322208PPT1c.690C>T (p.Leu230=)
c.693C>T (p.Leu231=)
c.384C>T (p.Leu128=)
c.462C>T (p.Leu154=)
c.36C>T (p.Leu12=)
c.*316C>T (n.*316C>T)
c.671C>T
n.930C>T
c.149-1680C>T
c.780C>T (p.Leu260=)
c.*545C>T (n.*545C>T)
c.*122C>T (n.*122C>T)
n.90C>T
c.378C>T (p.Leu126=)
c.468C>T (p.Leu156=)
 ClinVar dbSNP
1g.40078593G>CCA417322209PPT1c.690C>G (p.Leu230=)
c.693C>G (p.Leu231=)
c.384C>G (p.Leu128=)
c.462C>G (p.Leu154=)
c.36C>G (p.Leu12=)
c.*316C>G (n.*316C>G)
c.671C>G
n.930C>G
c.149-1680C>G
c.780C>G (p.Leu260=)
c.*545C>G (n.*545C>G)
c.*122C>G (n.*122C>G)
n.90C>G
c.378C>G (p.Leu126=)
c.468C>G (p.Leu156=)
 ClinVar dbSNP
1g.40078593G>TCA417322210PPT1c.690C>A (p.Leu230=)
c.693C>A (p.Leu231=)
c.384C>A (p.Leu128=)
c.462C>A (p.Leu154=)
c.36C>A (p.Leu12=)
c.*316C>A (n.*316C>A)
c.671C>A
n.930C>A
c.149-1680C>A
c.780C>A (p.Leu260=)
c.*545C>A (n.*545C>A)
c.*122C>A (n.*122C>A)
n.90C>A
c.378C>A (p.Leu126=)
c.468C>A (p.Leu156=)
1g.40078594A>CCA339846691PPT1c.689T>G (p.Leu230Arg)
c.692T>G (p.Leu231Arg)
c.383T>G (p.Leu128Arg)
c.461T>G (p.Leu154Arg)
c.35T>G (p.Leu12Arg)
c.*315T>G (n.*315T>G)
c.670T>G
n.929T>G
c.149-1681T>G
c.779T>G (p.Leu260Arg)
c.*544T>G (n.*544T>G)
c.*121T>G (n.*121T>G)
n.89T>G
c.377T>G (p.Leu126Arg)
c.467T>G (p.Leu156Arg)
 gnomAD v4
1g.40078594A>GCA339846693PPT1c.689T>C (p.Leu230Pro)
c.692T>C (p.Leu231Pro)
c.383T>C (p.Leu128Pro)
c.461T>C (p.Leu154Pro)
c.35T>C (p.Leu12Pro)
c.*315T>C (n.*315T>C)
c.670T>C
n.929T>C
c.149-1681T>C
c.779T>C (p.Leu260Pro)
c.*544T>C (n.*544T>C)
c.*121T>C (n.*121T>C)
n.89T>C
c.377T>C (p.Leu126Pro)
c.467T>C (p.Leu156Pro)
1g.40078594A>TCA339846696PPT1c.689T>A (p.Leu230His)
c.692T>A (p.Leu231His)
c.383T>A (p.Leu128His)
c.461T>A (p.Leu154His)
c.35T>A (p.Leu12His)
c.*315T>A (n.*315T>A)
c.670T>A
n.929T>A
c.149-1681T>A
c.779T>A (p.Leu260His)
c.*544T>A (n.*544T>A)
c.*121T>A (n.*121T>A)
n.89T>A
c.377T>A (p.Leu126His)
c.467T>A (p.Leu156His)
1g.40078595G>ACA339846702PPT1c.688C>T (p.Leu230Phe)
c.691C>T (p.Leu231Phe)
c.382C>T (p.Leu128Phe)
c.460C>T (p.Leu154Phe)
c.34C>T (p.Leu12Phe)
c.*314C>T (n.*314C>T)
c.669C>T
n.928C>T
c.149-1682C>T
c.778C>T (p.Leu260Phe)
c.*543C>T (n.*543C>T)
c.*120C>T (n.*120C>T)
n.88C>T
c.376C>T (p.Leu126Phe)
c.466C>T (p.Leu156Phe)
1g.40078595G>CCA339846700PPT1c.688C>G (p.Leu230Val)
c.691C>G (p.Leu231Val)
c.382C>G (p.Leu128Val)
c.460C>G (p.Leu154Val)
c.34C>G (p.Leu12Val)
c.*314C>G (n.*314C>G)
c.669C>G
n.928C>G
c.149-1682C>G
c.778C>G (p.Leu260Val)
c.*543C>G (n.*543C>G)
c.*120C>G (n.*120C>G)
n.88C>G
c.376C>G (p.Leu126Val)
c.466C>G (p.Leu156Val)
1g.40078595G>TCA339846698PPT1c.688C>A (p.Leu230Ile)
c.691C>A (p.Leu231Ile)
c.382C>A (p.Leu128Ile)
c.460C>A (p.Leu154Ile)
c.34C>A (p.Leu12Ile)
c.*314C>A (n.*314C>A)
c.669C>A
n.928C>A
c.149-1682C>A
c.778C>A (p.Leu260Ile)
c.*543C>A (n.*543C>A)
c.*120C>A (n.*120C>A)
n.88C>A
c.376C>A (p.Leu126Ile)
c.466C>A (p.Leu156Ile)
1g.40078596G>ACA417322211PPT1c.687C>T (p.Phe229=)
c.690C>T (p.Phe230=)
c.381C>T (p.Phe127=)
c.459C>T (p.Phe153=)
c.33C>T (p.Phe11=)
c.*313C>T (n.*313C>T)
c.668C>T
n.927C>T
c.149-1683C>T
c.777C>T (p.Phe259=)
c.*542C>T (n.*542C>T)
c.*119C>T (n.*119C>T)
n.87C>T
c.375C>T (p.Phe125=)
c.465C>T (p.Phe155=)
 ClinVar dbSNP
1g.40078596G>CCA339846704PPT1c.687C>G (p.Phe229Leu)
c.690C>G (p.Phe230Leu)
c.381C>G (p.Phe127Leu)
c.459C>G (p.Phe153Leu)
c.33C>G (p.Phe11Leu)
c.*313C>G (n.*313C>G)
c.668C>G
n.927C>G
c.149-1683C>G
c.777C>G (p.Phe259Leu)
c.*542C>G (n.*542C>G)
c.*119C>G (n.*119C>G)
n.87C>G
c.375C>G (p.Phe125Leu)
c.465C>G (p.Phe155Leu)
1g.40078596G=CA1164245530PPT1c.687C= (p.Phe229=)
c.690C= (p.Phe230=)
c.381C= (p.Phe127=)
c.459C= (p.Phe153=)
c.33C= (p.Phe11=)
c.*313C= (n.*313C=)
c.668C=
n.927C=
c.149-1683C=
c.777C= (p.Phe259=)
c.*542C= (n.*542C=)
c.*119C= (n.*119C=)
n.87C=
c.375C= (p.Phe125=)
c.465C= (p.Phe155=)
1g.40078596G>TCA339846706PPT1c.687C>A (p.Phe229Leu)
c.690C>A (p.Phe230Leu)
c.381C>A (p.Phe127Leu)
c.459C>A (p.Phe153Leu)
c.33C>A (p.Phe11Leu)
c.*313C>A (n.*313C>A)
c.668C>A
n.927C>A
c.149-1683C>A
c.777C>A (p.Phe259Leu)
c.*542C>A (n.*542C>A)
c.*119C>A (n.*119C>A)
n.87C>A
c.375C>A (p.Phe125Leu)
c.465C>A (p.Phe155Leu)
1g.40078597A>CCA339846708PPT1c.686T>G (p.Phe229Cys)
c.689T>G (p.Phe230Cys)
c.380T>G (p.Phe127Cys)
c.458T>G (p.Phe153Cys)
c.32T>G (p.Phe11Cys)
c.*312T>G (n.*312T>G)
c.667T>G
n.926T>G
c.149-1684T>G
c.776T>G (p.Phe259Cys)
c.*541T>G (n.*541T>G)
c.*118T>G (n.*118T>G)
n.86T>G
c.374T>G (p.Phe125Cys)
c.464T>G (p.Phe155Cys)
1g.40078597A>GCA339846710PPT1c.686T>C (p.Phe229Ser)
c.689T>C (p.Phe230Ser)
c.380T>C (p.Phe127Ser)
c.458T>C (p.Phe153Ser)
c.32T>C (p.Phe11Ser)
c.*312T>C (n.*312T>C)
c.667T>C
n.926T>C
c.149-1684T>C
c.776T>C (p.Phe259Ser)
c.*541T>C (n.*541T>C)
c.*118T>C (n.*118T>C)
n.86T>C
c.374T>C (p.Phe125Ser)
c.464T>C (p.Phe155Ser)
1g.40078597A>TCA339846711PPT1c.686T>A (p.Phe229Tyr)
c.689T>A (p.Phe230Tyr)
c.380T>A (p.Phe127Tyr)
c.458T>A (p.Phe153Tyr)
c.32T>A (p.Phe11Tyr)
c.*312T>A (n.*312T>A)
c.667T>A
n.926T>A
c.149-1684T>A
c.776T>A (p.Phe259Tyr)
c.*541T>A (n.*541T>A)
c.*118T>A (n.*118T>A)
n.86T>A
c.374T>A (p.Phe125Tyr)
c.464T>A (p.Phe155Tyr)
1g.40078598A>CCA339846712PPT1c.685T>G (p.Phe229Val)
c.688T>G (p.Phe230Val)
c.379T>G (p.Phe127Val)
c.457T>G (p.Phe153Val)
c.31T>G (p.Phe11Val)
c.*311T>G (n.*311T>G)
c.666T>G
n.925T>G
c.149-1685T>G
c.775T>G (p.Phe259Val)
c.*540T>G (n.*540T>G)
c.*117T>G (n.*117T>G)
n.85T>G
c.373T>G (p.Phe125Val)
c.463T>G (p.Phe155Val)
1g.40078598A>GCA339846714PPT1c.685T>C (p.Phe229Leu)
c.688T>C (p.Phe230Leu)
c.379T>C (p.Phe127Leu)
c.457T>C (p.Phe153Leu)
c.31T>C (p.Phe11Leu)
c.*311T>C (n.*311T>C)
c.666T>C
n.925T>C
c.149-1685T>C
c.775T>C (p.Phe259Leu)
c.*540T>C (n.*540T>C)
c.*117T>C (n.*117T>C)
n.85T>C
c.373T>C (p.Phe125Leu)
c.463T>C (p.Phe155Leu)
1g.40078598A>TCA339846715PPT1c.685T>A (p.Phe229Ile)
c.688T>A (p.Phe230Ile)
c.379T>A (p.Phe127Ile)
c.457T>A (p.Phe153Ile)
c.31T>A (p.Phe11Ile)
c.*311T>A (n.*311T>A)
c.666T>A
n.925T>A
c.149-1685T>A
c.775T>A (p.Phe259Ile)
c.*540T>A (n.*540T>A)
c.*117T>A (n.*117T>A)
n.85T>A
c.373T>A (p.Phe125Ile)
c.463T>A (p.Phe155Ile)
1g.40078599T>ACA339846719PPT1c.684A>T (p.Lys228Asn)
c.687A>T (p.Lys229Asn)
c.378A>T (p.Lys126Asn)
c.456A>T (p.Lys152Asn)
c.30A>T (p.Lys10Asn)
c.*310A>T (n.*310A>T)
c.665A>T
n.924A>T
c.149-1686A>T
c.774A>T (p.Lys258Asn)
c.*539A>T (n.*539A>T)
c.*116A>T (n.*116A>T)
n.84A>T
c.372A>T (p.Lys124Asn)
c.462A>T (p.Lys154Asn)
1g.40078599T>CCA417322212PPT1c.684A>G (p.Lys228=)
c.687A>G (p.Lys229=)
c.378A>G (p.Lys126=)
c.456A>G (p.Lys152=)
c.30A>G (p.Lys10=)
c.*310A>G (n.*310A>G)
c.665A>G
n.924A>G
c.149-1686A>G
c.774A>G (p.Lys258=)
c.*539A>G (n.*539A>G)
c.*116A>G (n.*116A>G)
n.84A>G
c.372A>G (p.Lys124=)
c.462A>G (p.Lys154=)
 gnomAD v4
1g.40078599T>GCA339846717PPT1c.684A>C (p.Lys228Asn)
c.687A>C (p.Lys229Asn)
c.378A>C (p.Lys126Asn)
c.456A>C (p.Lys152Asn)
c.30A>C (p.Lys10Asn)
c.*310A>C (n.*310A>C)
c.665A>C
n.924A>C
c.149-1686A>C
c.774A>C (p.Lys258Asn)
c.*539A>C (n.*539A>C)
c.*116A>C (n.*116A>C)
n.84A>C
c.372A>C (p.Lys124Asn)
c.462A>C (p.Lys154Asn)
1g.40078600T>ACA339846720PPT1c.683A>T (p.Lys228Ile)
c.686A>T (p.Lys229Ile)
c.377A>T (p.Lys126Ile)
c.455A>T (p.Lys152Ile)
c.29A>T (p.Lys10Ile)
c.*309A>T (n.*309A>T)
c.664A>T
n.923A>T
c.149-1687A>T
c.773A>T (p.Lys258Ile)
c.*538A>T (n.*538A>T)
c.*115A>T (n.*115A>T)
n.83A>T
c.371A>T (p.Lys124Ile)
c.461A>T (p.Lys154Ile)
1g.40078600T>CCA339846722PPT1c.683A>G (p.Lys228Arg)
c.686A>G (p.Lys229Arg)
c.377A>G (p.Lys126Arg)
c.455A>G (p.Lys152Arg)
c.29A>G (p.Lys10Arg)
c.*309A>G (n.*309A>G)
c.664A>G
n.923A>G
c.149-1687A>G
c.773A>G (p.Lys258Arg)
c.*538A>G (n.*538A>G)
c.*115A>G (n.*115A>G)
n.83A>G
c.371A>G (p.Lys124Arg)
c.461A>G (p.Lys154Arg)
1g.40078600T>GCA339846723PPT1c.683A>C (p.Lys228Thr)
c.686A>C (p.Lys229Thr)
c.377A>C (p.Lys126Thr)
c.455A>C (p.Lys152Thr)
c.29A>C (p.Lys10Thr)
c.*309A>C (n.*309A>C)
c.664A>C
n.923A>C
c.149-1687A>C
c.773A>C (p.Lys258Thr)
c.*538A>C (n.*538A>C)
c.*115A>C (n.*115A>C)
n.83A>C
c.371A>C (p.Lys124Thr)
c.461A>C (p.Lys154Thr)
1g.40078601T>ACA339846725PPT1c.682A>T (p.Lys228Ter)
c.685A>T (p.Lys229Ter)
c.376A>T (p.Lys126Ter)
c.454A>T (p.Lys152Ter)
c.28A>T (p.Lys10Ter)
c.*308A>T (n.*308A>T)
c.663A>T
n.922A>T
c.149-1688A>T
c.772A>T (p.Lys258Ter)
c.*537A>T (n.*537A>T)
c.*114A>T (n.*114A>T)
n.82A>T
c.370A>T (p.Lys124Ter)
c.460A>T (p.Lys154Ter)
1g.40078601T>CCA339846726PPT1c.682A>G (p.Lys228Glu)
c.685A>G (p.Lys229Glu)
c.376A>G (p.Lys126Glu)
c.454A>G (p.Lys152Glu)
c.28A>G (p.Lys10Glu)
c.*308A>G (n.*308A>G)
c.663A>G
n.922A>G
c.149-1688A>G
c.772A>G (p.Lys258Glu)
c.*537A>G (n.*537A>G)
c.*114A>G (n.*114A>G)
n.82A>G
c.370A>G (p.Lys124Glu)
c.460A>G (p.Lys154Glu)
1g.40078601T>GCA339846728PPT1c.682A>C (p.Lys228Gln)
c.685A>C (p.Lys229Gln)
c.376A>C (p.Lys126Gln)
c.454A>C (p.Lys152Gln)
c.28A>C (p.Lys10Gln)
c.*308A>C (n.*308A>C)
c.663A>C
n.922A>C
c.149-1688A>C
c.772A>C (p.Lys258Gln)
c.*537A>C (n.*537A>C)
c.*114A>C (n.*114A>C)
n.82A>C
c.370A>C (p.Lys124Gln)
c.460A>C (p.Lys154Gln)
1g.40078602C>ACA417322214PPT1c.681G>T (p.Val227=)
c.684G>T (p.Val228=)
c.375G>T (p.Val125=)
c.453G>T (p.Val151=)
c.27G>T (p.Val9=)
c.*307G>T (n.*307G>T)
c.662G>T
n.921G>T
c.149-1689G>T
c.771G>T (p.Val257=)
c.*536G>T (n.*536G>T)
c.*113G>T (n.*113G>T)
n.81G>T
c.369G>T (p.Val123=)
c.459G>T (p.Val153=)
1g.40078602C>GCA417322213PPT1c.681G>C (p.Val227=)
c.684G>C (p.Val228=)
c.375G>C (p.Val125=)
c.453G>C (p.Val151=)
c.27G>C (p.Val9=)
c.*307G>C (n.*307G>C)
c.662G>C
n.921G>C
c.149-1689G>C
c.771G>C (p.Val257=)
c.*536G>C (n.*536G>C)
c.*113G>C (n.*113G>C)
n.81G>C
c.369G>C (p.Val123=)
c.459G>C (p.Val153=)
1g.40078602C>TCA417322215PPT1c.681G>A (p.Val227=)
c.684G>A (p.Val228=)
c.375G>A (p.Val125=)
c.453G>A (p.Val151=)
c.27G>A (p.Val9=)
c.*307G>A (n.*307G>A)
c.662G>A
n.921G>A
c.149-1689G>A
c.771G>A (p.Val257=)
c.*536G>A (n.*536G>A)
c.*113G>A (n.*113G>A)
n.81G>A
c.369G>A (p.Val123=)
c.459G>A (p.Val153=)
 gnomAD v4
1g.40078602_40078606delCA2580062732PPT1c.677_681del (p.Met226LysfsTer5)
c.680_684del (p.Met227LysfsTer5)
c.371_375del (p.Met124LysfsTer5)
c.449_453del (p.Met150LysfsTer5)
c.23_27del (p.Met8LysfsTer5)
c.*303_*307del (n.*303_*307del)
c.658_662del
n.917_921del
c.149-1693_149-1689del
c.767_771del (p.Met256LysfsTer5)
c.*532_*536del (n.*532_*536del)
c.*109_*113del (n.*109_*113del)
n.77_81del
c.365_369del (p.Met122LysfsTer5)
c.455_459del (p.Met152LysfsTer5)
 ClinVar
1g.40078603A=CA1144228752PPT1c.680T= (p.Val227=)
c.683T= (p.Val228=)
c.374T= (p.Val125=)
c.452T= (p.Val151=)
c.26T= (p.Val9=)
c.*306T= (n.*306T=)
c.661T=
n.920T=
c.149-1690T=
c.770T= (p.Val257=)
c.*535T= (n.*535T=)
c.*112T= (n.*112T=)
n.80T=
c.368T= (p.Val123=)
c.458T= (p.Val153=)
1g.40078603A>CCA263543PPT1c.680T>G (p.Val227Gly)
c.683T>G (p.Val228Gly)
c.374T>G (p.Val125Gly)
c.452T>G (p.Val151Gly)
c.26T>G (p.Val9Gly)
c.*306T>G (n.*306T>G)
c.661T>G
n.920T>G
c.149-1690T>G
c.770T>G (p.Val257Gly)
c.*535T>G (n.*535T>G)
c.*112T>G (n.*112T>G)
n.80T>G
c.368T>G (p.Val123Gly)
c.458T>G (p.Val153Gly)
 ClinVar dbSNP
1g.40078603A>GCA339846731PPT1c.680T>C (p.Val227Ala)
c.683T>C (p.Val228Ala)
c.374T>C (p.Val125Ala)
c.452T>C (p.Val151Ala)
c.26T>C (p.Val9Ala)
c.*306T>C (n.*306T>C)
c.661T>C
n.920T>C
c.149-1690T>C
c.770T>C (p.Val257Ala)
c.*535T>C (n.*535T>C)
c.*112T>C (n.*112T>C)
n.80T>C
c.368T>C (p.Val123Ala)
c.458T>C (p.Val153Ala)
1g.40078603A>TCA339846734PPT1c.680T>A (p.Val227Glu)
c.683T>A (p.Val228Glu)
c.374T>A (p.Val125Glu)
c.452T>A (p.Val151Glu)
c.26T>A (p.Val9Glu)
c.*306T>A (n.*306T>A)
c.661T>A
n.920T>A
c.149-1690T>A
c.770T>A (p.Val257Glu)
c.*535T>A (n.*535T>A)
c.*112T>A (n.*112T>A)
n.80T>A
c.368T>A (p.Val123Glu)
c.458T>A (p.Val153Glu)
1g.40078604C>ACA339846737PPT1c.679G>T (p.Val227Leu)
c.682G>T (p.Val228Leu)
c.373G>T (p.Val125Leu)
c.451G>T (p.Val151Leu)
c.25G>T (p.Val9Leu)
c.*305G>T (n.*305G>T)
c.660G>T
n.919G>T
c.149-1691G>T
c.769G>T (p.Val257Leu)
c.*534G>T (n.*534G>T)
c.*111G>T (n.*111G>T)
n.79G>T
c.367G>T (p.Val123Leu)
c.457G>T (p.Val153Leu)
1g.40078604C>GCA339846739PPT1c.679G>C (p.Val227Leu)
c.682G>C (p.Val228Leu)
c.373G>C (p.Val125Leu)
c.451G>C (p.Val151Leu)
c.25G>C (p.Val9Leu)
c.*305G>C (n.*305G>C)
c.660G>C
n.919G>C
c.149-1691G>C
c.769G>C (p.Val257Leu)
c.*534G>C (n.*534G>C)
c.*111G>C (n.*111G>C)
n.79G>C
c.367G>C (p.Val123Leu)
c.457G>C (p.Val153Leu)
1g.40078604C>TCA339846741PPT1c.679G>A (p.Val227Met)
c.682G>A (p.Val228Met)
c.373G>A (p.Val125Met)
c.451G>A (p.Val151Met)
c.25G>A (p.Val9Met)
c.*305G>A (n.*305G>A)
c.660G>A
n.919G>A
c.149-1691G>A
c.769G>A (p.Val257Met)
c.*534G>A (n.*534G>A)
c.*111G>A (n.*111G>A)
n.79G>A
c.367G>A (p.Val123Met)
c.457G>A (p.Val153Met)
1g.40078605C>ACA339846743PPT1c.678G>T (p.Met226Ile)
c.681G>T (p.Met227Ile)
c.372G>T (p.Met124Ile)
c.450G>T (p.Met150Ile)
c.24G>T (p.Met8Ile)
c.*304G>T (n.*304G>T)
c.659G>T
n.918G>T
c.149-1692G>T
c.768G>T (p.Met256Ile)
c.*533G>T (n.*533G>T)
c.*110G>T (n.*110G>T)
n.78G>T
c.366G>T (p.Met122Ile)
c.456G>T (p.Met152Ile)
1g.40078605C>GCA339846745PPT1c.678G>C (p.Met226Ile)
c.681G>C (p.Met227Ile)
c.372G>C (p.Met124Ile)
c.450G>C (p.Met150Ile)
c.24G>C (p.Met8Ile)
c.*304G>C (n.*304G>C)
c.659G>C
n.918G>C
c.149-1692G>C
c.768G>C (p.Met256Ile)
c.*533G>C (n.*533G>C)
c.*110G>C (n.*110G>C)
n.78G>C
c.366G>C (p.Met122Ile)
c.456G>C (p.Met152Ile)
1g.40078605C>TCA339846747PPT1c.678G>A (p.Met226Ile)
c.681G>A (p.Met227Ile)
c.372G>A (p.Met124Ile)
c.450G>A (p.Met150Ile)
c.24G>A (p.Met8Ile)
c.*304G>A (n.*304G>A)
c.659G>A
n.918G>A
c.149-1692G>A
c.768G>A (p.Met256Ile)
c.*533G>A (n.*533G>A)
c.*110G>A (n.*110G>A)
n.78G>A
c.366G>A (p.Met122Ile)
c.456G>A (p.Met152Ile)
1g.40078606A=CA1164245531PPT1c.677T= (p.Met226=)
c.680T= (p.Met227=)
c.371T= (p.Met124=)
c.449T= (p.Met150=)
c.23T= (p.Met8=)
c.*303T= (n.*303T=)
c.658T=
n.917T=
c.149-1693T=
c.767T= (p.Met256=)
c.*532T= (n.*532T=)
c.*109T= (n.*109T=)
n.77T=
c.365T= (p.Met122=)
c.455T= (p.Met152=)
1g.40078606A>CCA339846750PPT1c.677T>G (p.Met226Arg)
c.680T>G (p.Met227Arg)
c.371T>G (p.Met124Arg)
c.449T>G (p.Met150Arg)
c.23T>G (p.Met8Arg)
c.*303T>G (n.*303T>G)
c.658T>G
n.917T>G
c.149-1693T>G
c.767T>G (p.Met256Arg)
c.*532T>G (n.*532T>G)
c.*109T>G (n.*109T>G)
n.77T>G
c.365T>G (p.Met122Arg)
c.455T>G (p.Met152Arg)
1g.40078606A>GCA339846752PPT1c.677T>C (p.Met226Thr)
c.680T>C (p.Met227Thr)
c.371T>C (p.Met124Thr)
c.449T>C (p.Met150Thr)
c.23T>C (p.Met8Thr)
c.*303T>C (n.*303T>C)
c.658T>C
n.917T>C
c.149-1693T>C
c.767T>C (p.Met256Thr)
c.*532T>C (n.*532T>C)
c.*109T>C (n.*109T>C)
n.77T>C
c.365T>C (p.Met122Thr)
c.455T>C (p.Met152Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.40078606A>TCA339846755PPT1c.677T>A (p.Met226Lys)
c.680T>A (p.Met227Lys)
c.371T>A (p.Met124Lys)
c.449T>A (p.Met150Lys)
c.23T>A (p.Met8Lys)
c.*303T>A (n.*303T>A)
c.658T>A
n.917T>A
c.149-1693T>A
c.767T>A (p.Met256Lys)
c.*532T>A (n.*532T>A)
c.*109T>A (n.*109T>A)
n.77T>A
c.365T>A (p.Met122Lys)
c.455T>A (p.Met152Lys)
1g.40078607T>ACA339846757PPT1c.676A>T (p.Met226Leu)
c.679A>T (p.Met227Leu)
c.370A>T (p.Met124Leu)
c.448A>T (p.Met150Leu)
c.22A>T (p.Met8Leu)
c.*302A>T (n.*302A>T)
c.657A>T
n.916A>T
c.149-1694A>T
c.766A>T (p.Met256Leu)
c.*531A>T (n.*531A>T)
c.*108A>T (n.*108A>T)
n.76A>T
c.364A>T (p.Met122Leu)
c.454A>T (p.Met152Leu)
 dbSNP gnomAD v4
1g.40078607T>CCA789589PPT1c.676A>G (p.Met226Val)
c.679A>G (p.Met227Val)
c.370A>G (p.Met124Val)
c.448A>G (p.Met150Val)
c.22A>G (p.Met8Val)
c.*302A>G (n.*302A>G)
c.657A>G
n.916A>G
c.149-1694A>G
c.766A>G (p.Met256Val)
c.*531A>G (n.*531A>G)
c.*108A>G (n.*108A>G)
n.76A>G
c.364A>G (p.Met122Val)
c.454A>G (p.Met152Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40078607T>GCA339846760PPT1c.676A>C (p.Met226Leu)
c.679A>C (p.Met227Leu)
c.370A>C (p.Met124Leu)
c.448A>C (p.Met150Leu)
c.22A>C (p.Met8Leu)
c.*302A>C (n.*302A>C)
c.657A>C
n.916A>C
c.149-1694A>C
c.766A>C (p.Met256Leu)
c.*531A>C (n.*531A>C)
c.*108A>C (n.*108A>C)
n.76A>C
c.364A>C (p.Met122Leu)
c.454A>C (p.Met152Leu)
1g.40078607T=CA1164245532PPT1c.676A= (p.Met226=)
c.679A= (p.Met227=)
c.370A= (p.Met124=)
c.448A= (p.Met150=)
c.22A= (p.Met8=)
c.*302A= (n.*302A=)
c.657A=
n.916A=
c.149-1694A=
c.766A= (p.Met256=)
c.*531A= (n.*531A=)
c.*108A= (n.*108A=)
n.76A=
c.364A= (p.Met122=)
c.454A= (p.Met152=)
1g.40078608C>ACA417322216PPT1c.675G>T (p.Val225=)
c.678G>T (p.Val226=)
c.369G>T (p.Val123=)
c.447G>T (p.Val149=)
c.21G>T (p.Val7=)
c.*301G>T (n.*301G>T)
c.656G>T
n.915G>T
c.149-1695G>T
c.765G>T (p.Val255=)
c.*530G>T (n.*530G>T)
c.*107G>T (n.*107G>T)
n.75G>T
c.363G>T (p.Val121=)
c.453G>T (p.Val151=)
1g.40078608C=CA1164245533PPT1c.675G= (p.Val225=)
c.678G= (p.Val226=)
c.369G= (p.Val123=)
c.447G= (p.Val149=)
c.21G= (p.Val7=)
c.*301G= (n.*301G=)
c.656G=
n.915G=
c.149-1695G=
c.765G= (p.Val255=)
c.*530G= (n.*530G=)
c.*107G= (n.*107G=)
n.75G=
c.363G= (p.Val121=)
c.453G= (p.Val151=)
1g.40078608C>GCA417322217PPT1c.675G>C (p.Val225=)
c.678G>C (p.Val226=)
c.369G>C (p.Val123=)
c.447G>C (p.Val149=)
c.21G>C (p.Val7=)
c.*301G>C (n.*301G>C)
c.656G>C
n.915G>C
c.149-1695G>C
c.765G>C (p.Val255=)
c.*530G>C (n.*530G>C)
c.*107G>C (n.*107G>C)
n.75G>C
c.363G>C (p.Val121=)
c.453G>C (p.Val151=)
 ClinVar dbSNP gnomAD v4
1g.40078608C>TCA417322218PPT1c.675G>A (p.Val225=)
c.678G>A (p.Val226=)
c.369G>A (p.Val123=)
c.447G>A (p.Val149=)
c.21G>A (p.Val7=)
c.*301G>A (n.*301G>A)
c.656G>A
n.915G>A
c.149-1695G>A
c.765G>A (p.Val255=)
c.*530G>A (n.*530G>A)
c.*107G>A (n.*107G>A)
n.75G>A
c.363G>A (p.Val121=)
c.453G>A (p.Val151=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.40078609A>CCA339846762PPT1c.674T>G (p.Val225Gly)
c.677T>G (p.Val226Gly)
c.368T>G (p.Val123Gly)
c.446T>G (p.Val149Gly)
c.20T>G (p.Val7Gly)
c.*300T>G (n.*300T>G)
c.655T>G
n.914T>G
c.149-1696T>G
c.764T>G (p.Val255Gly)
c.*529T>G (n.*529T>G)
c.*106T>G (n.*106T>G)
n.74T>G
c.362T>G (p.Val121Gly)
c.452T>G (p.Val151Gly)
1g.40078609A>GCA339846766PPT1c.674T>C (p.Val225Ala)
c.677T>C (p.Val226Ala)
c.368T>C (p.Val123Ala)
c.446T>C (p.Val149Ala)
c.20T>C (p.Val7Ala)
c.*300T>C (n.*300T>C)
c.655T>C
n.914T>C
c.149-1696T>C
c.764T>C (p.Val255Ala)
c.*529T>C (n.*529T>C)
c.*106T>C (n.*106T>C)
n.74T>C
c.362T>C (p.Val121Ala)
c.452T>C (p.Val151Ala)
1g.40078609A>TCA339846764PPT1c.674T>A (p.Val225Glu)
c.677T>A (p.Val226Glu)
c.368T>A (p.Val123Glu)
c.446T>A (p.Val149Glu)
c.20T>A (p.Val7Glu)
c.*300T>A (n.*300T>A)
c.655T>A
n.914T>A
c.149-1696T>A
c.764T>A (p.Val255Glu)
c.*529T>A (n.*529T>A)
c.*106T>A (n.*106T>A)
n.74T>A
c.362T>A (p.Val121Glu)
c.452T>A (p.Val151Glu)
1g.40078610C>ACA339846768PPT1c.673G>T (p.Val225Leu)
c.676G>T (p.Val226Leu)
c.367G>T (p.Val123Leu)
c.445G>T (p.Val149Leu)
c.19G>T (p.Val7Leu)
c.*299G>T (n.*299G>T)
c.654G>T
n.913G>T
c.149-1697G>T
c.763G>T (p.Val255Leu)
c.*528G>T (n.*528G>T)
c.*105G>T (n.*105G>T)
n.73G>T
c.361G>T (p.Val121Leu)
c.451G>T (p.Val151Leu)
1g.40078610C=CA1144043781PPT1c.673G= (p.Val225=)
c.676G= (p.Val226=)
c.367G= (p.Val123=)
c.445G= (p.Val149=)
c.19G= (p.Val7=)
c.*299G= (n.*299G=)
c.654G=
n.913G=
c.149-1697G=
c.763G= (p.Val255=)
c.*528G= (n.*528G=)
c.*105G= (n.*105G=)
n.73G=
c.361G= (p.Val121=)
c.451G= (p.Val151=)
1g.40078610C>GCA339846770PPT1c.673G>C (p.Val225Leu)
c.676G>C (p.Val226Leu)
c.367G>C (p.Val123Leu)
c.445G>C (p.Val149Leu)
c.19G>C (p.Val7Leu)
c.*299G>C (n.*299G>C)
c.654G>C
n.913G>C
c.149-1697G>C
c.763G>C (p.Val255Leu)
c.*528G>C (n.*528G>C)
c.*105G>C (n.*105G>C)
n.73G>C
c.361G>C (p.Val121Leu)
c.451G>C (p.Val151Leu)
1g.40078610C>TCA789590PPT1c.673G>A (p.Val225Met)
c.676G>A (p.Val226Met)
c.367G>A (p.Val123Met)
c.445G>A (p.Val149Met)
c.19G>A (p.Val7Met)
c.*299G>A (n.*299G>A)
c.654G>A
n.913G>A
c.149-1697G>A
c.763G>A (p.Val255Met)
c.*528G>A (n.*528G>A)
c.*105G>A (n.*105G>A)
n.73G>A
c.361G>A (p.Val121Met)
c.451G>A (p.Val151Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078611A=CA1164245534PPT1c.672T= (p.Phe224=)
c.675T= (p.Phe225=)
c.366T= (p.Phe122=)
c.444T= (p.Phe148=)
c.18T= (p.Phe6=)
c.*298T= (n.*298T=)
c.653T=
n.912T=
c.149-1698T=
c.762T= (p.Phe254=)
c.*527T= (n.*527T=)
c.*104T= (n.*104T=)
n.72T=
c.360T= (p.Phe120=)
c.450T= (p.Phe150=)
1g.40078611A>CCA339846773PPT1c.672T>G (p.Phe224Leu)
c.675T>G (p.Phe225Leu)
c.366T>G (p.Phe122Leu)
c.444T>G (p.Phe148Leu)
c.18T>G (p.Phe6Leu)
c.*298T>G (n.*298T>G)
c.653T>G
n.912T>G
c.149-1698T>G
c.762T>G (p.Phe254Leu)
c.*527T>G (n.*527T>G)
c.*104T>G (n.*104T>G)
n.72T>G
c.360T>G (p.Phe120Leu)
c.450T>G (p.Phe150Leu)
1g.40078611A>GCA417322219PPT1c.672T>C (p.Phe224=)
c.675T>C (p.Phe225=)
c.366T>C (p.Phe122=)
c.444T>C (p.Phe148=)
c.18T>C (p.Phe6=)
c.*298T>C (n.*298T>C)
c.653T>C
n.912T>C
c.149-1698T>C
c.762T>C (p.Phe254=)
c.*527T>C (n.*527T>C)
c.*104T>C (n.*104T>C)
n.72T>C
c.360T>C (p.Phe120=)
c.450T>C (p.Phe150=)
 dbSNP
1g.40078611A>TCA339846775PPT1c.672T>A (p.Phe224Leu)
c.675T>A (p.Phe225Leu)
c.366T>A (p.Phe122Leu)
c.444T>A (p.Phe148Leu)
c.18T>A (p.Phe6Leu)
c.*298T>A (n.*298T>A)
c.653T>A
n.912T>A
c.149-1698T>A
c.762T>A (p.Phe254Leu)
c.*527T>A (n.*527T>A)
c.*104T>A (n.*104T>A)
n.72T>A
c.360T>A (p.Phe120Leu)
c.450T>A (p.Phe150Leu)
1g.40078612A=CA1144228754PPT1c.671T= (p.Phe224=)
c.674T= (p.Phe225=)
c.365T= (p.Phe122=)
c.443T= (p.Phe148=)
c.17T= (p.Phe6=)
c.*297T= (n.*297T=)
c.652T=
n.911T=
c.149-1699T=
c.761T= (p.Phe254=)
c.*526T= (n.*526T=)
c.*103T= (n.*103T=)
n.71T=
c.359T= (p.Phe120=)
c.449T= (p.Phe150=)
1g.40078612A>CCA339846777PPT1c.671T>G (p.Phe224Cys)
c.674T>G (p.Phe225Cys)
c.365T>G (p.Phe122Cys)
c.443T>G (p.Phe148Cys)
c.17T>G (p.Phe6Cys)
c.*297T>G (n.*297T>G)
c.652T>G
n.911T>G
c.149-1699T>G
c.761T>G (p.Phe254Cys)
c.*526T>G (n.*526T>G)
c.*103T>G (n.*103T>G)
n.71T>G
c.359T>G (p.Phe120Cys)
c.449T>G (p.Phe150Cys)
1g.40078612A>GCA263540PPT1c.671T>C (p.Phe224Ser)
c.674T>C (p.Phe225Ser)
c.365T>C (p.Phe122Ser)
c.443T>C (p.Phe148Ser)
c.17T>C (p.Phe6Ser)
c.*297T>C (n.*297T>C)
c.652T>C
n.911T>C
c.149-1699T>C
c.761T>C (p.Phe254Ser)
c.*526T>C (n.*526T>C)
c.*103T>C (n.*103T>C)
n.71T>C
c.359T>C (p.Phe120Ser)
c.449T>C (p.Phe150Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.40078612A>TCA339846780PPT1c.671T>A (p.Phe224Tyr)
c.674T>A (p.Phe225Tyr)
c.365T>A (p.Phe122Tyr)
c.443T>A (p.Phe148Tyr)
c.17T>A (p.Phe6Tyr)
c.*297T>A (n.*297T>A)
c.652T>A
n.911T>A
c.149-1699T>A
c.761T>A (p.Phe254Tyr)
c.*526T>A (n.*526T>A)
c.*103T>A (n.*103T>A)
n.71T>A
c.359T>A (p.Phe120Tyr)
c.449T>A (p.Phe150Tyr)
1g.40078613A>CCA339846784PPT1c.670T>G (p.Phe224Val)
c.673T>G (p.Phe225Val)
c.364T>G (p.Phe122Val)
c.442T>G (p.Phe148Val)
c.16T>G (p.Phe6Val)
c.*296T>G (n.*296T>G)
c.651T>G
n.910T>G
c.149-1700T>G
c.760T>G (p.Phe254Val)
c.*525T>G (n.*525T>G)
c.*102T>G (n.*102T>G)
n.70T>G
c.358T>G (p.Phe120Val)
c.448T>G (p.Phe150Val)
1g.40078613A>GCA339846785PPT1c.670T>C (p.Phe224Leu)
c.673T>C (p.Phe225Leu)
c.364T>C (p.Phe122Leu)
c.442T>C (p.Phe148Leu)
c.16T>C (p.Phe6Leu)
c.*296T>C (n.*296T>C)
c.651T>C
n.910T>C
c.149-1700T>C
c.760T>C (p.Phe254Leu)
c.*525T>C (n.*525T>C)
c.*102T>C (n.*102T>C)
n.70T>C
c.358T>C (p.Phe120Leu)
c.448T>C (p.Phe150Leu)
1g.40078613A>TCA339846787PPT1c.670T>A (p.Phe224Ile)
c.673T>A (p.Phe225Ile)
c.364T>A (p.Phe122Ile)
c.442T>A (p.Phe148Ile)
c.16T>A (p.Phe6Ile)
c.*296T>A (n.*296T>A)
c.651T>A
n.910T>A
c.149-1700T>A
c.760T>A (p.Phe254Ile)
c.*525T>A (n.*525T>A)
c.*102T>A (n.*102T>A)
n.70T>A
c.358T>A (p.Phe120Ile)
c.448T>A (p.Phe150Ile)
1g.40078614C>ACA339846789PPT1c.669G>T (p.Lys223Asn)
c.672G>T (p.Lys224Asn)
c.363G>T (p.Lys121Asn)
c.441G>T (p.Lys147Asn)
c.15G>T (p.Lys5Asn)
c.*295G>T (n.*295G>T)
c.650G>T
n.909G>T
c.149-1701G>T
c.759G>T (p.Lys253Asn)
c.*524G>T (n.*524G>T)
c.*101G>T (n.*101G>T)
n.69G>T
c.357G>T (p.Lys119Asn)
c.447G>T (p.Lys149Asn)
1g.40078614C>GCA339846790PPT1c.669G>C (p.Lys223Asn)
c.672G>C (p.Lys224Asn)
c.363G>C (p.Lys121Asn)
c.441G>C (p.Lys147Asn)
c.15G>C (p.Lys5Asn)
c.*295G>C (n.*295G>C)
c.650G>C
n.909G>C
c.149-1701G>C
c.759G>C (p.Lys253Asn)
c.*524G>C (n.*524G>C)
c.*101G>C (n.*101G>C)
n.69G>C
c.357G>C (p.Lys119Asn)
c.447G>C (p.Lys149Asn)
1g.40078614C>TCA417322220PPT1c.669G>A (p.Lys223=)
c.672G>A (p.Lys224=)
c.363G>A (p.Lys121=)
c.441G>A (p.Lys147=)
c.15G>A (p.Lys5=)
c.*295G>A (n.*295G>A)
c.650G>A
n.909G>A
c.149-1701G>A
c.759G>A (p.Lys253=)
c.*524G>A (n.*524G>A)
c.*101G>A (n.*101G>A)
n.69G>A
c.357G>A (p.Lys119=)
c.447G>A (p.Lys149=)
1g.40078618_40078620delCA2645091429PPT1c.667_669del (p.Lys223del)
c.670_672del (p.Lys224del)
c.361_363del (p.Lys121del)
c.439_441del (p.Lys147del)
c.13_15del (p.Lys5del)
c.*293_*295del (n.*293_*295del)
c.648_650del
n.907_909del
c.149-1703_149-1701del
c.757_759del (p.Lys253del)
c.*522_*524del (n.*522_*524del)
c.*99_*101del (n.*99_*101del)
n.67_69del
c.355_357del (p.Lys119del)
c.445_447del (p.Lys149del)
 gnomAD v4
1g.40078615T>ACA339846792PPT1c.668A>T (p.Lys223Met)
c.671A>T (p.Lys224Met)
c.362A>T (p.Lys121Met)
c.440A>T (p.Lys147Met)
c.14A>T (p.Lys5Met)
c.*294A>T (n.*294A>T)
c.649A>T
n.908A>T
c.149-1702A>T
c.758A>T (p.Lys253Met)
c.*523A>T (n.*523A>T)
c.*100A>T (n.*100A>T)
n.68A>T
c.356A>T (p.Lys119Met)
c.446A>T (p.Lys149Met)
1g.40078615T>CCA339846797PPT1c.668A>G (p.Lys223Arg)
c.671A>G (p.Lys224Arg)
c.362A>G (p.Lys121Arg)
c.440A>G (p.Lys147Arg)
c.14A>G (p.Lys5Arg)
c.*294A>G (n.*294A>G)
c.649A>G
n.908A>G
c.149-1702A>G
c.758A>G (p.Lys253Arg)
c.*523A>G (n.*523A>G)
c.*100A>G (n.*100A>G)
n.68A>G
c.356A>G (p.Lys119Arg)
c.446A>G (p.Lys149Arg)
1g.40078615T>GCA339846794PPT1c.668A>C (p.Lys223Thr)
c.671A>C (p.Lys224Thr)
c.362A>C (p.Lys121Thr)
c.440A>C (p.Lys147Thr)
c.14A>C (p.Lys5Thr)
c.*294A>C (n.*294A>C)
c.649A>C
n.908A>C
c.149-1702A>C
c.758A>C (p.Lys253Thr)
c.*523A>C (n.*523A>C)
c.*100A>C (n.*100A>C)
n.68A>C
c.356A>C (p.Lys119Thr)
c.446A>C (p.Lys149Thr)
1g.40078616T>ACA339846798PPT1c.667A>T (p.Lys223Ter)
c.670A>T (p.Lys224Ter)
c.361A>T (p.Lys121Ter)
c.439A>T (p.Lys147Ter)
c.13A>T (p.Lys5Ter)
c.*293A>T (n.*293A>T)
c.648A>T
n.907A>T
c.149-1703A>T
c.757A>T (p.Lys253Ter)
c.*522A>T (n.*522A>T)
c.*99A>T (n.*99A>T)
n.67A>T
c.355A>T (p.Lys119Ter)
c.445A>T (p.Lys149Ter)
1g.40078616T>CCA339846799PPT1c.667A>G (p.Lys223Glu)
c.670A>G (p.Lys224Glu)
c.361A>G (p.Lys121Glu)
c.439A>G (p.Lys147Glu)
c.13A>G (p.Lys5Glu)
c.*293A>G (n.*293A>G)
c.648A>G
n.907A>G
c.149-1703A>G
c.757A>G (p.Lys253Glu)
c.*522A>G (n.*522A>G)
c.*99A>G (n.*99A>G)
n.67A>G
c.355A>G (p.Lys119Glu)
c.445A>G (p.Lys149Glu)
1g.40078616T>GCA339846801PPT1c.667A>C (p.Lys223Gln)
c.670A>C (p.Lys224Gln)
c.361A>C (p.Lys121Gln)
c.439A>C (p.Lys147Gln)
c.13A>C (p.Lys5Gln)
c.*293A>C (n.*293A>C)
c.648A>C
n.907A>C
c.149-1703A>C
c.757A>C (p.Lys253Gln)
c.*522A>C (n.*522A>C)
c.*99A>C (n.*99A>C)
n.67A>C
c.355A>C (p.Lys119Gln)
c.445A>C (p.Lys149Gln)
1g.40078617C>ACA339846803PPT1c.666G>T (p.Lys222Asn)
c.669G>T (p.Lys223Asn)
c.360G>T (p.Lys120Asn)
c.438G>T (p.Lys146Asn)
c.12G>T (p.Lys4Asn)
c.*292G>T (n.*292G>T)
c.647G>T
n.906G>T
c.149-1704G>T
c.756G>T (p.Lys252Asn)
c.*521G>T (n.*521G>T)
c.*98G>T (n.*98G>T)
n.66G>T
c.354G>T (p.Lys118Asn)
c.444G>T (p.Lys148Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.40078617C=CA1164245535PPT1c.666G= (p.Lys222=)
c.669G= (p.Lys223=)
c.360G= (p.Lys120=)
c.438G= (p.Lys146=)
c.12G= (p.Lys4=)
c.*292G= (n.*292G=)
c.647G=
n.906G=
c.149-1704G=
c.756G= (p.Lys252=)
c.*521G= (n.*521G=)
c.*98G= (n.*98G=)
n.66G=
c.354G= (p.Lys118=)
c.444G= (p.Lys148=)
1g.40078617C>GCA339846805PPT1c.666G>C (p.Lys222Asn)
c.669G>C (p.Lys223Asn)
c.360G>C (p.Lys120Asn)
c.438G>C (p.Lys146Asn)
c.12G>C (p.Lys4Asn)
c.*292G>C (n.*292G>C)
c.647G>C
n.906G>C
c.149-1704G>C
c.756G>C (p.Lys252Asn)
c.*521G>C (n.*521G>C)
c.*98G>C (n.*98G>C)
n.66G>C
c.354G>C (p.Lys118Asn)
c.444G>C (p.Lys148Asn)
1g.40078617C>TCA417322221PPT1c.666G>A (p.Lys222=)
c.669G>A (p.Lys223=)
c.360G>A (p.Lys120=)
c.438G>A (p.Lys146=)
c.12G>A (p.Lys4=)
c.*292G>A (n.*292G>A)
c.647G>A
n.906G>A
c.149-1704G>A
c.756G>A (p.Lys252=)
c.*521G>A (n.*521G>A)
c.*98G>A (n.*98G>A)
n.66G>A
c.354G>A (p.Lys118=)
c.444G>A (p.Lys148=)
 ClinVar gnomAD v4
1g.40078618T>ACA339846806PPT1c.665A>T (p.Lys222Met)
c.668A>T (p.Lys223Met)
c.359A>T (p.Lys120Met)
c.437A>T (p.Lys146Met)
c.11A>T (p.Lys4Met)
c.*291A>T (n.*291A>T)
c.646A>T
n.905A>T
c.149-1705A>T
c.755A>T (p.Lys252Met)
c.*520A>T (n.*520A>T)
c.*97A>T (n.*97A>T)
n.65A>T
c.353A>T (p.Lys118Met)
c.443A>T (p.Lys148Met)
1g.40078618T>CCA339846807PPT1c.665A>G (p.Lys222Arg)
c.668A>G (p.Lys223Arg)
c.359A>G (p.Lys120Arg)
c.437A>G (p.Lys146Arg)
c.11A>G (p.Lys4Arg)
c.*291A>G (n.*291A>G)
c.646A>G
n.905A>G
c.149-1705A>G
c.755A>G (p.Lys252Arg)
c.*520A>G (n.*520A>G)
c.*97A>G (n.*97A>G)
n.65A>G
c.353A>G (p.Lys118Arg)
c.443A>G (p.Lys148Arg)
1g.40078618T>GCA339846808PPT1c.665A>C (p.Lys222Thr)
c.668A>C (p.Lys223Thr)
c.359A>C (p.Lys120Thr)
c.437A>C (p.Lys146Thr)
c.11A>C (p.Lys4Thr)
c.*291A>C (n.*291A>C)
c.646A>C
n.905A>C
c.149-1705A>C
c.755A>C (p.Lys252Thr)
c.*520A>C (n.*520A>C)
c.*97A>C (n.*97A>C)
n.65A>C
c.353A>C (p.Lys118Thr)
c.443A>C (p.Lys148Thr)
1g.40078619T>ACA339846809PPT1c.664A>T (p.Lys222Ter)
c.667A>T (p.Lys223Ter)
c.358A>T (p.Lys120Ter)
c.436A>T (p.Lys146Ter)
c.10A>T (p.Lys4Ter)
c.*290A>T (n.*290A>T)
c.645A>T
n.904A>T
c.149-1706A>T
c.754A>T (p.Lys252Ter)
c.*519A>T (n.*519A>T)
c.*96A>T (n.*96A>T)
n.64A>T
c.352A>T (p.Lys118Ter)
c.442A>T (p.Lys148Ter)
1g.40078619T>CCA339846811PPT1c.664A>G (p.Lys222Glu)
c.667A>G (p.Lys223Glu)
c.358A>G (p.Lys120Glu)
c.436A>G (p.Lys146Glu)
c.10A>G (p.Lys4Glu)
c.*290A>G (n.*290A>G)
c.645A>G
n.904A>G
c.149-1706A>G
c.754A>G (p.Lys252Glu)
c.*519A>G (n.*519A>G)
c.*96A>G (n.*96A>G)
n.64A>G
c.352A>G (p.Lys118Glu)
c.442A>G (p.Lys148Glu)
1g.40078619T>GCA339846813PPT1c.664A>C (p.Lys222Gln)
c.667A>C (p.Lys223Gln)
c.358A>C (p.Lys120Gln)
c.436A>C (p.Lys146Gln)
c.10A>C (p.Lys4Gln)
c.*290A>C (n.*290A>C)
c.645A>C
n.904A>C
c.149-1706A>C
c.754A>C (p.Lys252Gln)
c.*519A>C (n.*519A>C)
c.*96A>C (n.*96A>C)
n.64A>C
c.352A>C (p.Lys118Gln)
c.442A>C (p.Lys148Gln)
1g.40078620C>ACA417322222PPT1c.663G>T (p.Leu221=)
c.666G>T (p.Leu222=)
c.357G>T (p.Leu119=)
c.435G>T (p.Leu145=)
c.9G>T (p.Leu3=)
c.*289G>T (n.*289G>T)
c.644G>T
n.903G>T
c.149-1707G>T
c.753G>T (p.Leu251=)
c.*518G>T (n.*518G>T)
c.*95G>T (n.*95G>T)
n.63G>T
c.351G>T (p.Leu117=)
c.441G>T (p.Leu147=)
1g.40078620C>GCA417322223PPT1c.663G>C (p.Leu221=)
c.666G>C (p.Leu222=)
c.357G>C (p.Leu119=)
c.435G>C (p.Leu145=)
c.9G>C (p.Leu3=)
c.*289G>C (n.*289G>C)
c.644G>C
n.903G>C
c.149-1707G>C
c.753G>C (p.Leu251=)
c.*518G>C (n.*518G>C)
c.*95G>C (n.*95G>C)
n.63G>C
c.351G>C (p.Leu117=)
c.441G>C (p.Leu147=)
1g.40078620C>TCA417322224PPT1c.663G>A (p.Leu221=)
c.666G>A (p.Leu222=)
c.357G>A (p.Leu119=)
c.435G>A (p.Leu145=)
c.9G>A (p.Leu3=)
c.*289G>A (n.*289G>A)
c.644G>A
n.903G>A
c.149-1707G>A
c.753G>A (p.Leu251=)
c.*518G>A (n.*518G>A)
c.*95G>A (n.*95G>A)
n.63G>A
c.351G>A (p.Leu117=)
c.441G>A (p.Leu147=)
1g.40078620_40078621delCA2580062734PPT1c.662_663del (p.Leu221GlnfsTer11)
c.665_666del (p.Leu222GlnfsTer11)
c.356_357del (p.Leu119GlnfsTer11)
c.434_435del (p.Leu145GlnfsTer11)
c.8_9del (p.Leu3GlnfsTer11)
c.*288_*289del (n.*288_*289del)
c.643_644del
n.902_903del
c.149-1708_149-1707del
c.752_753del (p.Leu251GlnfsTer11)
c.*517_*518del (n.*517_*518del)
c.*94_*95del (n.*94_*95del)
n.62_63del
c.350_351del (p.Leu117GlnfsTer11)
c.440_441del (p.Leu147GlnfsTer11)
 ClinVar
1g.40078621A=CA1144228757PPT1c.662T= (p.Leu221=)
c.665T= (p.Leu222=)
c.356T= (p.Leu119=)
c.434T= (p.Leu145=)
c.8T= (p.Leu3=)
c.*288T= (n.*288T=)
c.643T=
n.902T=
c.149-1708T=
c.752T= (p.Leu251=)
c.*517T= (n.*517T=)
c.*94T= (n.*94T=)
n.62T=
c.350T= (p.Leu117=)
c.440T= (p.Leu147=)
1g.40078621A>CCA339846818PPT1c.662T>G (p.Leu221Arg)
c.665T>G (p.Leu222Arg)
c.356T>G (p.Leu119Arg)
c.434T>G (p.Leu145Arg)
c.8T>G (p.Leu3Arg)
c.*288T>G (n.*288T>G)
c.643T>G
n.902T>G
c.149-1708T>G
c.752T>G (p.Leu251Arg)
c.*517T>G (n.*517T>G)
c.*94T>G (n.*94T>G)
n.62T>G
c.350T>G (p.Leu117Arg)
c.440T>G (p.Leu147Arg)
1g.40078621A>GCA263538PPT1c.662T>C (p.Leu221Pro)
c.665T>C (p.Leu222Pro)
c.356T>C (p.Leu119Pro)
c.434T>C (p.Leu145Pro)
c.8T>C (p.Leu3Pro)
c.*288T>C (n.*288T>C)
c.643T>C
n.902T>C
c.149-1708T>C
c.752T>C (p.Leu251Pro)
c.*517T>C (n.*517T>C)
c.*94T>C (n.*94T>C)
n.62T>C
c.350T>C (p.Leu117Pro)
c.440T>C (p.Leu147Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078621A>TCA339846815PPT1c.662T>A (p.Leu221Gln)
c.665T>A (p.Leu222Gln)
c.356T>A (p.Leu119Gln)
c.434T>A (p.Leu145Gln)
c.8T>A (p.Leu3Gln)
c.*288T>A (n.*288T>A)
c.643T>A
n.902T>A
c.149-1708T>A
c.752T>A (p.Leu251Gln)
c.*517T>A (n.*517T>A)
c.*94T>A (n.*94T>A)
n.62T>A
c.350T>A (p.Leu117Gln)
c.440T>A (p.Leu147Gln)
1g.40078622G>ACA417322225PPT1c.661C>T (p.Leu221=)
c.664C>T (p.Leu222=)
c.355C>T (p.Leu119=)
c.433C>T (p.Leu145=)
c.7C>T (p.Leu3=)
c.*287C>T (n.*287C>T)
c.642C>T
n.901C>T
c.149-1709C>T
c.751C>T (p.Leu251=)
c.*516C>T (n.*516C>T)
c.*93C>T (n.*93C>T)
n.61C>T
c.349C>T (p.Leu117=)
c.439C>T (p.Leu147=)
1g.40078622G>CCA339846821PPT1c.661C>G (p.Leu221Val)
c.664C>G (p.Leu222Val)
c.355C>G (p.Leu119Val)
c.433C>G (p.Leu145Val)
c.7C>G (p.Leu3Val)
c.*287C>G (n.*287C>G)
c.642C>G
n.901C>G
c.149-1709C>G
c.751C>G (p.Leu251Val)
c.*516C>G (n.*516C>G)
c.*93C>G (n.*93C>G)
n.61C>G
c.349C>G (p.Leu117Val)
c.439C>G (p.Leu147Val)
1g.40078622G>TCA339846820PPT1c.661C>A (p.Leu221Met)
c.664C>A (p.Leu222Met)
c.355C>A (p.Leu119Met)
c.433C>A (p.Leu145Met)
c.7C>A (p.Leu3Met)
c.*287C>A (n.*287C>A)
c.642C>A
n.901C>A
c.149-1709C>A
c.751C>A (p.Leu251Met)
c.*516C>A (n.*516C>A)
c.*93C>A (n.*93C>A)
n.61C>A
c.349C>A (p.Leu117Met)
c.439C>A (p.Leu147Met)
1g.40078623G>ACA417322228PPT1c.660C>T (p.Ala220=)
c.663C>T (p.Ala221=)
c.354C>T (p.Ala118=)
c.432C>T (p.Ala144=)
c.6C>T (p.Ala2=)
c.*286C>T (n.*286C>T)
c.641C>T
n.900C>T
c.149-1710C>T
c.750C>T (p.Ala250=)
c.*515C>T (n.*515C>T)
c.*92C>T (n.*92C>T)
n.60C>T
c.348C>T (p.Ala116=)
c.438C>T (p.Ala146=)
 gnomAD v4
1g.40078623G>CCA417322227PPT1c.660C>G (p.Ala220=)
c.663C>G (p.Ala221=)
c.354C>G (p.Ala118=)
c.432C>G (p.Ala144=)
c.6C>G (p.Ala2=)
c.*286C>G (n.*286C>G)
c.641C>G
n.900C>G
c.149-1710C>G
c.750C>G (p.Ala250=)
c.*515C>G (n.*515C>G)
c.*92C>G (n.*92C>G)
n.60C>G
c.348C>G (p.Ala116=)
c.438C>G (p.Ala146=)
1g.40078623G>TCA417322226PPT1c.660C>A (p.Ala220=)
c.663C>A (p.Ala221=)
c.354C>A (p.Ala118=)
c.432C>A (p.Ala144=)
c.6C>A (p.Ala2=)
c.*286C>A (n.*286C>A)
c.641C>A
n.900C>A
c.149-1710C>A
c.750C>A (p.Ala250=)
c.*515C>A (n.*515C>A)
c.*92C>A (n.*92C>A)
n.60C>A
c.348C>A (p.Ala116=)
c.438C>A (p.Ala146=)
1g.40078624G>ACA339846828PPT1c.659C>T (p.Ala220Val)
c.662C>T (p.Ala221Val)
c.353C>T (p.Ala118Val)
c.431C>T (p.Ala144Val)
c.5C>T (p.Ala2Val)
c.*285C>T (n.*285C>T)
c.640C>T
n.899C>T
c.149-1711C>T
c.749C>T (p.Ala250Val)
c.*514C>T (n.*514C>T)
c.*91C>T (n.*91C>T)
n.59C>T
c.347C>T (p.Ala116Val)
c.437C>T (p.Ala146Val)
 ClinVar
1g.40078624G>CCA339846824PPT1c.659C>G (p.Ala220Gly)
c.662C>G (p.Ala221Gly)
c.353C>G (p.Ala118Gly)
c.431C>G (p.Ala144Gly)
c.5C>G (p.Ala2Gly)
c.*285C>G (n.*285C>G)
c.640C>G
n.899C>G
c.149-1711C>G
c.749C>G (p.Ala250Gly)
c.*514C>G (n.*514C>G)
c.*91C>G (n.*91C>G)
n.59C>G
c.347C>G (p.Ala116Gly)
c.437C>G (p.Ala146Gly)
1g.40078624G>TCA339846826PPT1c.659C>A (p.Ala220Asp)
c.662C>A (p.Ala221Asp)
c.353C>A (p.Ala118Asp)
c.431C>A (p.Ala144Asp)
c.5C>A (p.Ala2Asp)
c.*285C>A (n.*285C>A)
c.640C>A
n.899C>A
c.149-1711C>A
c.749C>A (p.Ala250Asp)
c.*514C>A (n.*514C>A)
c.*91C>A (n.*91C>A)
n.59C>A
c.347C>A (p.Ala116Asp)
c.437C>A (p.Ala146Asp)
1g.40078625C>ACA339846830PPT1c.658G>T (p.Ala220Ser)
c.661G>T (p.Ala221Ser)
c.352G>T (p.Ala118Ser)
c.430G>T (p.Ala144Ser)
c.4G>T (p.Ala2Ser)
c.*284G>T (n.*284G>T)
c.639G>T
n.898G>T
c.149-1712G>T
c.748G>T (p.Ala250Ser)
c.*513G>T (n.*513G>T)
c.*90G>T (n.*90G>T)
n.58G>T
c.346G>T (p.Ala116Ser)
c.436G>T (p.Ala146Ser)
1g.40078625C>GCA339846832PPT1c.658G>C (p.Ala220Pro)
c.661G>C (p.Ala221Pro)
c.352G>C (p.Ala118Pro)
c.430G>C (p.Ala144Pro)
c.4G>C (p.Ala2Pro)
c.*284G>C (n.*284G>C)
c.639G>C
n.898G>C
c.149-1712G>C
c.748G>C (p.Ala250Pro)
c.*513G>C (n.*513G>C)
c.*90G>C (n.*90G>C)
n.58G>C
c.346G>C (p.Ala116Pro)
c.436G>C (p.Ala146Pro)
1g.40078625C>TCA339846834PPT1c.658G>A (p.Ala220Thr)
c.661G>A (p.Ala221Thr)
c.352G>A (p.Ala118Thr)
c.430G>A (p.Ala144Thr)
c.4G>A (p.Ala2Thr)
c.*284G>A (n.*284G>A)
c.639G>A
n.898G>A
c.149-1712G>A
c.748G>A (p.Ala250Thr)
c.*513G>A (n.*513G>A)
c.*90G>A (n.*90G>A)
n.58G>A
c.346G>A (p.Ala116Thr)
c.436G>A (p.Ala146Thr)
 COSMIC
1g.40078626C>ACA339846835PPT1c.657G>T (p.Met219Ile)
c.660G>T (p.Met220Ile)
c.351G>T (p.Met117Ile)
c.429G>T (p.Met143Ile)
c.3G>T (p.Met1Ile)
c.*283G>T (n.*283G>T)
c.638G>T
n.897G>T
c.149-1713G>T
c.747G>T (p.Met249Ile)
c.*512G>T (n.*512G>T)
c.*89G>T (n.*89G>T)
n.57G>T
c.345G>T (p.Met115Ile)
c.435G>T (p.Met145Ile)
1g.40078626C>GCA339846837PPT1c.657G>C (p.Met219Ile)
c.660G>C (p.Met220Ile)
c.351G>C (p.Met117Ile)
c.429G>C (p.Met143Ile)
c.3G>C (p.Met1Ile)
c.*283G>C (n.*283G>C)
c.638G>C
n.897G>C
c.149-1713G>C
c.747G>C (p.Met249Ile)
c.*512G>C (n.*512G>C)
c.*89G>C (n.*89G>C)
n.57G>C
c.345G>C (p.Met115Ile)
c.435G>C (p.Met145Ile)
1g.40078626C>TCA339846839PPT1c.657G>A (p.Met219Ile)
c.660G>A (p.Met220Ile)
c.351G>A (p.Met117Ile)
c.429G>A (p.Met143Ile)
c.3G>A (p.Met1Ile)
c.*283G>A (n.*283G>A)
c.638G>A
n.897G>A
c.149-1713G>A
c.747G>A (p.Met249Ile)
c.*512G>A (n.*512G>A)
c.*89G>A (n.*89G>A)
n.57G>A
c.345G>A (p.Met115Ile)
c.435G>A (p.Met145Ile)
1g.40078627A>CCA339846840PPT1c.656T>G (p.Met219Arg)
c.659T>G (p.Met220Arg)
c.350T>G (p.Met117Arg)
c.428T>G (p.Met143Arg)
c.2T>G (p.Met1Arg)
c.*282T>G (n.*282T>G)
c.637T>G
n.896T>G
c.149-1714T>G
c.746T>G (p.Met249Arg)
c.*511T>G (n.*511T>G)
c.*88T>G (n.*88T>G)
n.56T>G
c.344T>G (p.Met115Arg)
c.434T>G (p.Met145Arg)
1g.40078627A>GCA339846843PPT1c.656T>C (p.Met219Thr)
c.659T>C (p.Met220Thr)
c.350T>C (p.Met117Thr)
c.428T>C (p.Met143Thr)
c.2T>C (p.Met1Thr)
c.*282T>C (n.*282T>C)
c.637T>C
n.896T>C
c.149-1714T>C
c.746T>C (p.Met249Thr)
c.*511T>C (n.*511T>C)
c.*88T>C (n.*88T>C)
n.56T>C
c.344T>C (p.Met115Thr)
c.434T>C (p.Met145Thr)
 gnomAD v4
1g.40078627A>TCA339846845PPT1c.656T>A (p.Met219Lys)
c.659T>A (p.Met220Lys)
c.350T>A (p.Met117Lys)
c.428T>A (p.Met143Lys)
c.2T>A (p.Met1Lys)
c.*282T>A (n.*282T>A)
c.637T>A
n.896T>A
c.149-1714T>A
c.746T>A (p.Met249Lys)
c.*511T>A (n.*511T>A)
c.*88T>A (n.*88T>A)
n.56T>A
c.344T>A (p.Met115Lys)
c.434T>A (p.Met145Lys)
1g.40078628T>ACA339846846PPT1c.655A>T (p.Met219Leu)
c.658A>T (p.Met220Leu)
c.349A>T (p.Met117Leu)
c.427A>T (p.Met143Leu)
c.1A>T (p.Met1Leu)
c.*281A>T (n.*281A>T)
c.636A>T
n.895A>T
c.149-1715A>T
c.745A>T (p.Met249Leu)
c.*510A>T (n.*510A>T)
c.*87A>T (n.*87A>T)
n.55A>T
c.343A>T (p.Met115Leu)
c.433A>T (p.Met145Leu)
1g.40078628T>CCA339846849PPT1c.655A>G (p.Met219Val)
c.658A>G (p.Met220Val)
c.349A>G (p.Met117Val)
c.427A>G (p.Met143Val)
c.1A>G (p.Met1Val)
c.*281A>G (n.*281A>G)
c.636A>G
n.895A>G
c.149-1715A>G
c.745A>G (p.Met249Val)
c.*510A>G (n.*510A>G)
c.*87A>G (n.*87A>G)
n.55A>G
c.343A>G (p.Met115Val)
c.433A>G (p.Met145Val)
 gnomAD v4
1g.40078628T>GCA339846851PPT1c.655A>C (p.Met219Leu)
c.658A>C (p.Met220Leu)
c.349A>C (p.Met117Leu)
c.427A>C (p.Met143Leu)
c.1A>C (p.Met1Leu)
c.*281A>C (n.*281A>C)
c.636A>C
n.895A>C
c.149-1715A>C
c.745A>C (p.Met249Leu)
c.*510A>C (n.*510A>C)
c.*87A>C (n.*87A>C)
n.55A>C
c.343A>C (p.Met115Leu)
c.433A>C (p.Met145Leu)
1g.40078629C>ACA417322229PPT1c.654G>T (p.Leu218=)
c.657G>T (p.Leu219=)
c.348G>T (p.Leu116=)
c.426G>T (p.Leu142=)
c.-1G>T (n.-1G>T)
c.*280G>T (n.*280G>T)
c.635G>T
n.894G>T
c.149-1716G>T
c.744G>T (p.Leu248=)
c.*509G>T (n.*509G>T)
c.*86G>T (n.*86G>T)
n.54G>T
c.342G>T (p.Leu114=)
c.432G>T (p.Leu144=)
1g.40078629C=CA1164245536PPT1c.654G= (p.Leu218=)
c.657G= (p.Leu219=)
c.348G= (p.Leu116=)
c.426G= (p.Leu142=)
c.-1G= (n.-1G=)
c.*280G= (n.*280G=)
c.635G=
n.894G=
c.149-1716G=
c.744G= (p.Leu248=)
c.*509G= (n.*509G=)
c.*86G= (n.*86G=)
n.54G=
c.342G= (p.Leu114=)
c.432G= (p.Leu144=)
1g.40078629C>GCA789591PPT1c.654G>C (p.Leu218=)
c.657G>C (p.Leu219=)
c.348G>C (p.Leu116=)
c.426G>C (p.Leu142=)
c.-1G>C (n.-1G>C)
c.*280G>C (n.*280G>C)
c.635G>C
n.894G>C
c.149-1716G>C
c.744G>C (p.Leu248=)
c.*509G>C (n.*509G>C)
c.*86G>C (n.*86G>C)
n.54G>C
c.342G>C (p.Leu114=)
c.432G>C (p.Leu144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.40078629C>TCA417322230PPT1c.654G>A (p.Leu218=)
c.657G>A (p.Leu219=)
c.348G>A (p.Leu116=)
c.426G>A (p.Leu142=)
c.-1G>A (n.-1G>A)
c.*280G>A (n.*280G>A)
c.635G>A
n.894G>A
c.149-1716G>A
c.744G>A (p.Leu248=)
c.*509G>A (n.*509G>A)
c.*86G>A (n.*86G>A)
n.54G>A
c.342G>A (p.Leu114=)
c.432G>A (p.Leu144=)
1g.40078630A=CA1141580713PPT1c.653T= (p.Leu218=)
c.656T= (p.Leu219=)
c.347T= (p.Leu116=)
c.425T= (p.Leu142=)
c.-2T= (n.-2T=)
c.*279T= (n.*279T=)
c.634T=
n.893T=
c.149-1717T=
c.743T= (p.Leu248=)
c.*508T= (n.*508T=)
c.*85T= (n.*85T=)
n.53T=
c.341T= (p.Leu114=)
c.431T= (p.Leu144=)
1g.40078630A>CCA339846854PPT1c.653T>G (p.Leu218Arg)
c.656T>G (p.Leu219Arg)
c.347T>G (p.Leu116Arg)
c.425T>G (p.Leu142Arg)
c.-2T>G (n.-2T>G)
c.*279T>G (n.*279T>G)
c.634T>G
n.893T>G
c.149-1717T>G
c.743T>G (p.Leu248Arg)
c.*508T>G (n.*508T>G)
c.*85T>G (n.*85T>G)
n.53T>G
c.341T>G (p.Leu114Arg)
c.431T>G (p.Leu144Arg)
1g.40078630A>GCA339846856PPT1c.653T>C (p.Leu218Pro)
c.656T>C (p.Leu219Pro)
c.347T>C (p.Leu116Pro)
c.425T>C (p.Leu142Pro)
c.-2T>C (n.-2T>C)
c.*279T>C (n.*279T>C)
c.634T>C
n.893T>C
c.149-1717T>C
c.743T>C (p.Leu248Pro)
c.*508T>C (n.*508T>C)
c.*85T>C (n.*85T>C)
n.53T>C
c.341T>C (p.Leu114Pro)
c.431T>C (p.Leu144Pro)
1g.40078630A>TCA254581PPT1c.653T>A (p.Leu218Gln)
c.656T>A (p.Leu219Gln)
c.347T>A (p.Leu116Gln)
c.425T>A (p.Leu142Gln)
c.-2T>A (n.-2T>A)
c.*279T>A (n.*279T>A)
c.634T>A
n.893T>A
c.149-1717T>A
c.743T>A (p.Leu248Gln)
c.*508T>A (n.*508T>A)
c.*85T>A (n.*85T>A)
n.53T>A
c.341T>A (p.Leu114Gln)
c.431T>A (p.Leu144Gln)
 ClinVar dbSNP
1g.40078631G>ACA417322231PPT1c.652C>T (p.Leu218=)
c.655C>T (p.Leu219=)
c.346C>T (p.Leu116=)
c.424C>T (p.Leu142=)
c.-3C>T (n.-3C>T)
c.*278C>T (n.*278C>T)
c.633C>T
n.892C>T
c.149-1718C>T
c.742C>T (p.Leu248=)
c.*507C>T (n.*507C>T)
c.*84C>T (n.*84C>T)
n.52C>T
c.340C>T (p.Leu114=)
c.430C>T (p.Leu144=)
1g.40078631G>CCA339846859PPT1c.652C>G (p.Leu218Val)
c.655C>G (p.Leu219Val)
c.346C>G (p.Leu116Val)
c.424C>G (p.Leu142Val)
c.-3C>G (n.-3C>G)
c.*278C>G (n.*278C>G)
c.633C>G
n.892C>G
c.149-1718C>G
c.742C>G (p.Leu248Val)
c.*507C>G (n.*507C>G)
c.*84C>G (n.*84C>G)
n.52C>G
c.340C>G (p.Leu114Val)
c.430C>G (p.Leu144Val)
1g.40078631G>TCA339846860PPT1c.652C>A (p.Leu218Met)
c.655C>A (p.Leu219Met)
c.346C>A (p.Leu116Met)
c.424C>A (p.Leu142Met)
c.-3C>A (n.-3C>A)
c.*278C>A (n.*278C>A)
c.633C>A
n.892C>A
c.149-1718C>A
c.742C>A (p.Leu248Met)
c.*507C>A (n.*507C>A)
c.*84C>A (n.*84C>A)
n.52C>A
c.340C>A (p.Leu114Met)
c.430C>A (p.Leu144Met)
1g.40078632G>ACA417322232PPT1c.651C>T (p.Asn217=)
c.654C>T (p.Asn218=)
c.345C>T (p.Asn115=)
c.423C>T (p.Asn141=)
c.-4C>T (n.-4C>T)
c.*277C>T (n.*277C>T)
c.632C>T
n.891C>T
c.149-1719C>T
c.741C>T (p.Asn247=)
c.*506C>T (n.*506C>T)
c.*83C>T (n.*83C>T)
n.51C>T
c.339C>T (p.Asn113=)
c.429C>T (p.Asn143=)
1g.40078632G>CCA339846862PPT1c.651C>G (p.Asn217Lys)
c.654C>G (p.Asn218Lys)
c.345C>G (p.Asn115Lys)
c.423C>G (p.Asn141Lys)
c.-4C>G (n.-4C>G)
c.*277C>G (n.*277C>G)
c.632C>G
n.891C>G
c.149-1719C>G
c.741C>G (p.Asn247Lys)
c.*506C>G (n.*506C>G)
c.*83C>G (n.*83C>G)
n.51C>G
c.339C>G (p.Asn113Lys)
c.429C>G (p.Asn143Lys)
 gnomAD v4
1g.40078632G=CA1164245537PPT1c.651C= (p.Asn217=)
c.654C= (p.Asn218=)
c.345C= (p.Asn115=)
c.423C= (p.Asn141=)
c.-4C= (n.-4C=)
c.*277C= (n.*277C=)
c.632C=
n.891C=
c.149-1719C=
c.741C= (p.Asn247=)
c.*506C= (n.*506C=)
c.*83C= (n.*83C=)
n.51C=
c.339C= (p.Asn113=)
c.429C= (p.Asn143=)
1g.40078632G>TCA339846863PPT1c.651C>A (p.Asn217Lys)
c.654C>A (p.Asn218Lys)
c.345C>A (p.Asn115Lys)
c.423C>A (p.Asn141Lys)
c.-4C>A (n.-4C>A)
c.*277C>A (n.*277C>A)
c.632C>A
n.891C>A
c.149-1719C>A
c.741C>A (p.Asn247Lys)
c.*506C>A (n.*506C>A)
c.*83C>A (n.*83C>A)
n.51C>A
c.339C>A (p.Asn113Lys)
c.429C>A (p.Asn143Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.40078633T>ACA339846864PPT1c.650A>T (p.Asn217Ile)
c.653A>T (p.Asn218Ile)
c.344A>T (p.Asn115Ile)
c.422A>T (p.Asn141Ile)
c.-5A>T (n.-5A>T)
c.*276A>T (n.*276A>T)
c.631A>T
n.890A>T
c.149-1720A>T
c.740A>T (p.Asn247Ile)
c.*505A>T (n.*505A>T)
c.*82A>T (n.*82A>T)
n.50A>T
c.338A>T (p.Asn113Ile)
c.428A>T (p.Asn143Ile)
1g.40078633T>CCA339846866PPT1c.650A>G (p.Asn217Ser)
c.653A>G (p.Asn218Ser)
c.344A>G (p.Asn115Ser)
c.422A>G (p.Asn141Ser)
c.-5A>G (n.-5A>G)
c.*276A>G (n.*276A>G)
c.631A>G
n.890A>G
c.149-1720A>G
c.740A>G (p.Asn247Ser)
c.*505A>G (n.*505A>G)
c.*82A>G (n.*82A>G)
n.50A>G
c.338A>G (p.Asn113Ser)
c.428A>G (p.Asn143Ser)
1g.40078633T>GCA339846868PPT1c.650A>C (p.Asn217Thr)
c.653A>C (p.Asn218Thr)
c.344A>C (p.Asn115Thr)
c.422A>C (p.Asn141Thr)
c.-5A>C (n.-5A>C)
c.*276A>C (n.*276A>C)
c.631A>C
n.890A>C
c.149-1720A>C
c.740A>C (p.Asn247Thr)
c.*505A>C (n.*505A>C)
c.*82A>C (n.*82A>C)
n.50A>C
c.338A>C (p.Asn113Thr)
c.428A>C (p.Asn143Thr)
1g.40078637dupCA16040727PPT1c.650dup (p.Asn217LysfsTer16)
c.653dup (p.Asn218LysfsTer16)
c.344dup (p.Asn115LysfsTer16)
c.422dup (p.Asn141LysfsTer16)
c.-5dup (n.-5dup)
c.*276dup (n.*276dup)
c.631dup
n.890dup
c.149-1720dup
c.740dup (p.Asn247LysfsTer16)
c.*505dup (n.*505dup)
c.*82dup (n.*82dup)
n.50dup
c.338dup (p.Asn113LysfsTer16)
c.428dup (p.Asn143LysfsTer16)
 ClinVar dbSNP gnomAD v4
1g.40078637delCA2580062735PPT1c.650del (p.Asn217ThrfsTer2)
c.653del (p.Asn218ThrfsTer2)
c.344del (p.Asn115ThrfsTer2)
c.422del (p.Asn141ThrfsTer2)
c.-5del (n.-5del)
c.*276del (n.*276del)
c.631del
n.890del
c.149-1720del
c.740del (p.Asn247ThrfsTer2)
c.*505del (n.*505del)
c.*82del (n.*82del)
n.50del
c.338del (p.Asn113ThrfsTer2)
c.428del (p.Asn143ThrfsTer2)
 ClinVar
1g.40078634T>ACA339846870PPT1c.649A>T (p.Asn217Tyr)
c.652A>T (p.Asn218Tyr)
c.343A>T (p.Asn115Tyr)
c.421A>T (p.Asn141Tyr)
c.-6A>T (n.-6A>T)
c.*275A>T (n.*275A>T)
c.630A>T
n.889A>T
c.149-1721A>T
c.739A>T (p.Asn247Tyr)
c.*504A>T (n.*504A>T)
c.*81A>T (n.*81A>T)
n.49A>T
c.337A>T (p.Asn113Tyr)
c.427A>T (p.Asn143Tyr)
 gnomAD v4
1g.40078634T>CCA339846872PPT1c.649A>G (p.Asn217Asp)
c.652A>G (p.Asn218Asp)
c.343A>G (p.Asn115Asp)
c.421A>G (p.Asn141Asp)
c.-6A>G (n.-6A>G)
c.*275A>G (n.*275A>G)
c.630A>G
n.889A>G
c.149-1721A>G
c.739A>G (p.Asn247Asp)
c.*504A>G (n.*504A>G)
c.*81A>G (n.*81A>G)
n.49A>G
c.337A>G (p.Asn113Asp)
c.427A>G (p.Asn143Asp)
1g.40078634T>GCA339846874PPT1c.649A>C (p.Asn217His)
c.652A>C (p.Asn218His)
c.343A>C (p.Asn115His)
c.421A>C (p.Asn141His)
c.-6A>C (n.-6A>C)
c.*275A>C (n.*275A>C)
c.630A>C
n.889A>C
c.149-1721A>C
c.739A>C (p.Asn247His)
c.*504A>C (n.*504A>C)
c.*81A>C (n.*81A>C)
n.49A>C
c.337A>C (p.Asn113His)
c.427A>C (p.Asn143His)
1g.40078635T>ACA339846876PPT1c.648A>T (p.Lys216Asn)
c.651A>T (p.Lys217Asn)
c.342A>T (p.Lys114Asn)
c.420A>T (p.Lys140Asn)
c.-7A>T (n.-7A>T)
c.*274A>T (n.*274A>T)
c.629A>T
n.888A>T
c.149-1722A>T
c.738A>T (p.Lys246Asn)
c.*503A>T (n.*503A>T)
c.*80A>T (n.*80A>T)
n.48A>T
c.336A>T (p.Lys112Asn)
c.426A>T (p.Lys142Asn)
1g.40078635T>CCA417322233PPT1c.648A>G (p.Lys216=)
c.651A>G (p.Lys217=)
c.342A>G (p.Lys114=)
c.420A>G (p.Lys140=)
c.-7A>G (n.-7A>G)
c.*274A>G (n.*274A>G)
c.629A>G
n.888A>G
c.149-1722A>G
c.738A>G (p.Lys246=)
c.*503A>G (n.*503A>G)
c.*80A>G (n.*80A>G)
n.48A>G
c.336A>G (p.Lys112=)
c.426A>G (p.Lys142=)
 ClinVar dbSNP gnomAD v4
1g.40078635T>GCA339846878PPT1c.648A>C (p.Lys216Asn)
c.651A>C (p.Lys217Asn)
c.342A>C (p.Lys114Asn)
c.420A>C (p.Lys140Asn)
c.-7A>C (n.-7A>C)
c.*274A>C (n.*274A>C)
c.629A>C
n.888A>C
c.149-1722A>C
c.738A>C (p.Lys246Asn)
c.*503A>C (n.*503A>C)
c.*80A>C (n.*80A>C)
n.48A>C
c.336A>C (p.Lys112Asn)
c.426A>C (p.Lys142Asn)
1g.40078635T=CA1164245538PPT1c.648A= (p.Lys216=)
c.651A= (p.Lys217=)
c.342A= (p.Lys114=)
c.420A= (p.Lys140=)
c.-7A= (n.-7A=)
c.*274A= (n.*274A=)
c.629A=
n.888A=
c.149-1722A=
c.738A= (p.Lys246=)
c.*503A= (n.*503A=)
c.*80A= (n.*80A=)
n.48A=
c.336A= (p.Lys112=)
c.426A= (p.Lys142=)
1g.40078636T>ACA339846880PPT1c.647A>T (p.Lys216Ile)
c.650A>T (p.Lys217Ile)
c.341A>T (p.Lys114Ile)
c.419A>T (p.Lys140Ile)
c.-8A>T (n.-8A>T)
c.*273A>T (n.*273A>T)
c.628A>T
n.887A>T
c.149-1723A>T
c.737A>T (p.Lys246Ile)
c.*502A>T (n.*502A>T)
c.*79A>T (n.*79A>T)
n.47A>T
c.335A>T (p.Lys112Ile)
c.425A>T (p.Lys142Ile)
1g.40078636T>CCA339846882PPT1c.647A>G (p.Lys216Arg)
c.650A>G (p.Lys217Arg)
c.341A>G (p.Lys114Arg)
c.419A>G (p.Lys140Arg)
c.-8A>G (n.-8A>G)
c.*273A>G (n.*273A>G)
c.628A>G
n.887A>G
c.149-1723A>G
c.737A>G (p.Lys246Arg)
c.*502A>G (n.*502A>G)
c.*79A>G (n.*79A>G)
n.47A>G
c.335A>G (p.Lys112Arg)
c.425A>G (p.Lys142Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.40078636T>GCA339846884PPT1c.647A>C (p.Lys216Thr)
c.650A>C (p.Lys217Thr)
c.341A>C (p.Lys114Thr)
c.419A>C (p.Lys140Thr)
c.-8A>C (n.-8A>C)
c.*273A>C (n.*273A>C)
c.628A>C
n.887A>C
c.149-1723A>C
c.737A>C (p.Lys246Thr)
c.*502A>C (n.*502A>C)
c.*79A>C (n.*79A>C)
n.47A>C
c.335A>C (p.Lys112Thr)
c.425A>C (p.Lys142Thr)
1g.40078636T=CA1164245539PPT1c.647A= (p.Lys216=)
c.650A= (p.Lys217=)
c.341A= (p.Lys114=)
c.419A= (p.Lys140=)
c.-8A= (n.-8A=)
c.*273A= (n.*273A=)
c.628A=
n.887A=
c.149-1723A=
c.737A= (p.Lys246=)
c.*502A= (n.*502A=)
c.*79A= (n.*79A=)
n.47A=
c.335A= (p.Lys112=)
c.425A= (p.Lys142=)
1g.40078637T>ACA339846886PPT1c.646A>T (p.Lys216Ter)
c.649A>T (p.Lys217Ter)
c.340A>T (p.Lys114Ter)
c.418A>T (p.Lys140Ter)
c.-9A>T (n.-9A>T)
c.*272A>T (n.*272A>T)
c.627A>T
n.886A>T
c.149-1724A>T
c.736A>T (p.Lys246Ter)
c.*501A>T (n.*501A>T)
c.*78A>T (n.*78A>T)
n.46A>T
c.334A>T (p.Lys112Ter)
c.424A>T (p.Lys142Ter)
1g.40078637T>CCA339846888PPT1c.646A>G (p.Lys216Glu)
c.649A>G (p.Lys217Glu)
c.340A>G (p.Lys114Glu)
c.418A>G (p.Lys140Glu)
c.-9A>G (n.-9A>G)
c.*272A>G (n.*272A>G)
c.627A>G
n.886A>G
c.149-1724A>G
c.736A>G (p.Lys246Glu)
c.*501A>G (n.*501A>G)
c.*78A>G (n.*78A>G)
n.46A>G
c.334A>G (p.Lys112Glu)
c.424A>G (p.Lys142Glu)
1g.40078637T>GCA339846890PPT1c.646A>C (p.Lys216Gln)
c.649A>C (p.Lys217Gln)
c.340A>C (p.Lys114Gln)
c.418A>C (p.Lys140Gln)
c.-9A>C (n.-9A>C)
c.*272A>C (n.*272A>C)
c.627A>C
n.886A>C
c.149-1724A>C
c.736A>C (p.Lys246Gln)
c.*501A>C (n.*501A>C)
c.*78A>C (n.*78A>C)
n.46A>C
c.334A>C (p.Lys112Gln)
c.424A>C (p.Lys142Gln)
1g.40078638C>ACA339846892PPT1c.645G>T (p.Lys215Asn)
c.648G>T (p.Lys216Asn)
c.339G>T (p.Lys113Asn)
c.417G>T (p.Lys139Asn)
c.-10G>T (n.-10G>T)
c.*271G>T (n.*271G>T)
c.626G>T
n.885G>T
c.149-1725G>T
c.735G>T (p.Lys245Asn)
c.*500G>T (n.*500G>T)
c.*77G>T (n.*77G>T)
n.45G>T
c.333G>T (p.Lys111Asn)
c.423G>T (p.Lys141Asn)
1g.40078638C=CA1164245540PPT1c.645G= (p.Lys215=)
c.648G= (p.Lys216=)
c.339G= (p.Lys113=)
c.417G= (p.Lys139=)
c.-10G= (n.-10G=)
c.*271G= (n.*271G=)
c.626G=
n.885G=
c.149-1725G=
c.735G= (p.Lys245=)
c.*500G= (n.*500G=)
c.*77G= (n.*77G=)
n.45G=
c.333G= (p.Lys111=)
c.423G= (p.Lys141=)
1g.40078638C>GCA789592PPT1c.645G>C (p.Lys215Asn)
c.648G>C (p.Lys216Asn)
c.339G>C (p.Lys113Asn)
c.417G>C (p.Lys139Asn)
c.-10G>C (n.-10G>C)
c.*271G>C (n.*271G>C)
c.626G>C
n.885G>C
c.149-1725G>C
c.735G>C (p.Lys245Asn)
c.*500G>C (n.*500G>C)
c.*77G>C (n.*77G>C)
n.45G>C
c.333G>C (p.Lys111Asn)
c.423G>C (p.Lys141Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.40078638C>TCA417322234PPT1c.645G>A (p.Lys215=)
c.648G>A (p.Lys216=)
c.339G>A (p.Lys113=)
c.417G>A (p.Lys139=)
c.-10G>A (n.-10G>A)
c.*271G>A (n.*271G>A)
c.626G>A
n.885G>A
c.149-1725G>A
c.735G>A (p.Lys245=)
c.*500G>A (n.*500G>A)
c.*77G>A (n.*77G>A)
n.45G>A
c.333G>A (p.Lys111=)
c.423G>A (p.Lys141=)
1g.40078639T>ACA339846896PPT1c.644A>T (p.Lys215Met)
c.647A>T (p.Lys216Met)
c.338A>T (p.Lys113Met)
c.416A>T (p.Lys139Met)
c.-11A>T (n.-11A>T)
c.*270A>T (n.*270A>T)
c.625A>T
n.884A>T
c.149-1726A>T
c.734A>T (p.Lys245Met)
c.*499A>T (n.*499A>T)
c.*76A>T (n.*76A>T)
n.44A>T
c.332A>T (p.Lys111Met)
c.422A>T (p.Lys141Met)
 gnomAD v4
1g.40078639T>CCA339846898PPT1c.644A>G (p.Lys215Arg)
c.647A>G (p.Lys216Arg)
c.338A>G (p.Lys113Arg)
c.416A>G (p.Lys139Arg)
c.-11A>G (n.-11A>G)
c.*270A>G (n.*270A>G)
c.625A>G
n.884A>G
c.149-1726A>G
c.734A>G (p.Lys245Arg)
c.*499A>G (n.*499A>G)
c.*76A>G (n.*76A>G)
n.44A>G
c.332A>G (p.Lys111Arg)
c.422A>G (p.Lys141Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.40078639T>GCA339846900PPT1c.644A>C (p.Lys215Thr)
c.647A>C (p.Lys216Thr)
c.338A>C (p.Lys113Thr)
c.416A>C (p.Lys139Thr)
c.-11A>C (n.-11A>C)
c.*270A>C (n.*270A>C)
c.625A>C
n.884A>C
c.149-1726A>C
c.734A>C (p.Lys245Thr)
c.*499A>C (n.*499A>C)
c.*76A>C (n.*76A>C)
n.44A>C
c.332A>C (p.Lys111Thr)
c.422A>C (p.Lys141Thr)
1g.40078639T=CA1164245541PPT1c.644A= (p.Lys215=)
c.647A= (p.Lys216=)
c.338A= (p.Lys113=)
c.416A= (p.Lys139=)
c.-11A= (n.-11A=)
c.*270A= (n.*270A=)
c.625A=
n.884A=
c.149-1726A=
c.734A= (p.Lys245=)
c.*499A= (n.*499A=)
c.*76A= (n.*76A=)
n.44A=
c.332A= (p.Lys111=)
c.422A= (p.Lys141=)
1g.40078640T>ACA339846902PPT1c.643A>T (p.Lys215Ter)
c.646A>T (p.Lys216Ter)
c.337A>T (p.Lys113Ter)
c.415A>T (p.Lys139Ter)
c.-12A>T (n.-12A>T)
c.*269A>T (n.*269A>T)
c.624A>T
n.883A>T
c.149-1727A>T
c.733A>T (p.Lys245Ter)
c.*498A>T (n.*498A>T)
c.*75A>T (n.*75A>T)
n.43A>T
c.331A>T (p.Lys111Ter)
c.421A>T (p.Lys141Ter)
1g.40078640T>CCA789593PPT1c.643A>G (p.Lys215Glu)
c.646A>G (p.Lys216Glu)
c.337A>G (p.Lys113Glu)
c.415A>G (p.Lys139Glu)
c.-12A>G (n.-12A>G)
c.*269A>G (n.*269A>G)
c.624A>G
n.883A>G
c.149-1727A>G
c.733A>G (p.Lys245Glu)
c.*498A>G (n.*498A>G)
c.*75A>G (n.*75A>G)
n.43A>G
c.331A>G (p.Lys111Glu)
c.421A>G (p.Lys141Glu)
 ClinVar dbSNP ExAC gnomAD v4
1g.40078640T>GCA339846904PPT1c.643A>C (p.Lys215Gln)
c.646A>C (p.Lys216Gln)
c.337A>C (p.Lys113Gln)
c.415A>C (p.Lys139Gln)
c.-12A>C (n.-12A>C)
c.*269A>C (n.*269A>C)
c.624A>C
n.883A>C
c.149-1727A>C
c.733A>C (p.Lys245Gln)
c.*498A>C (n.*498A>C)
c.*75A>C (n.*75A>C)
n.43A>C
c.331A>C (p.Lys111Gln)
c.421A>C (p.Lys141Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.40078640T=CA1164245542PPT1c.643A= (p.Lys215=)
c.646A= (p.Lys216=)
c.337A= (p.Lys113=)
c.415A= (p.Lys139=)
c.-12A= (n.-12A=)
c.*269A= (n.*269A=)
c.624A=
n.883A=
c.149-1727A=
c.733A= (p.Lys245=)
c.*498A= (n.*498A=)
c.*75A= (n.*75A=)
n.43A=
c.331A= (p.Lys111=)
c.421A= (p.Lys141=)
1g.40078641G>ACA21005856PPT1c.642C>T (p.Tyr214=)
c.645C>T (p.Tyr215=)
c.336C>T (p.Tyr112=)
c.414C>T (p.Tyr138=)
c.-13C>T (n.-13C>T)
c.*268C>T (n.*268C>T)
c.623C>T
n.882C>T
c.149-1728C>T
c.732C>T (p.Tyr244=)
c.*497C>T (n.*497C>T)
c.*74C>T (n.*74C>T)
n.42C>T
c.330C>T (p.Tyr110=)
c.420C>T (p.Tyr140=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.40078641G>CCA339846905PPT1c.642C>G (p.Tyr214Ter)
c.645C>G (p.Tyr215Ter)
c.336C>G (p.Tyr112Ter)
c.414C>G (p.Tyr138Ter)
c.-13C>G (n.-13C>G)
c.*268C>G (n.*268C>G)
c.623C>G
n.882C>G
c.149-1728C>G
c.732C>G (p.Tyr244Ter)
c.*497C>G (n.*497C>G)
c.*74C>G (n.*74C>G)
n.42C>G
c.330C>G (p.Tyr110Ter)
c.420C>G (p.Tyr140Ter)
1g.40078641G=CA1164245544PPT1c.642C= (p.Tyr214=)
c.645C= (p.Tyr215=)
c.336C= (p.Tyr112=)
c.414C= (p.Tyr138=)
c.-13C= (n.-13C=)
c.*268C= (n.*268C=)
c.623C=
n.882C=
c.149-1728C=
c.732C= (p.Tyr244=)
c.*497C= (n.*497C=)
c.*74C= (n.*74C=)
n.42C=
c.330C= (p.Tyr110=)
c.420C= (p.Tyr140=)
1g.40078641G>TCA339846907PPT1c.642C>A (p.Tyr214Ter)
c.645C>A (p.Tyr215Ter)
c.336C>A (p.Tyr112Ter)
c.414C>A (p.Tyr138Ter)
c.-13C>A (n.-13C>A)
c.*268C>A (n.*268C>A)
c.623C>A
n.882C>A
c.149-1728C>A
c.732C>A (p.Tyr244Ter)
c.*497C>A (n.*497C>A)
c.*74C>A (n.*74C>A)
n.42C>A
c.330C>A (p.Tyr110Ter)
c.420C>A (p.Tyr140Ter)
1g.40078641_40078642delinsGTCA1164245543PPT1c.641_642delinsAC (p.Tyr214=)
c.644_645delinsAC (p.Tyr215=)
c.335_336delinsAC (p.Tyr112=)
c.413_414delinsAC (p.Tyr138=)
c.-14_-13delinsAC (n.-14_-13delinsAC)
c.*267_*268delinsAC (n.*267_*268delinsAC)
c.622_623delinsAC
n.881_882delinsAC
c.149-1729_149-1728delinsAC
c.731_732delinsAC (p.Tyr244=)
c.*496_*497delinsAC (n.*496_*497delinsAC)
c.*73_*74delinsAC (n.*73_*74delinsAC)
n.41_42delinsAC
c.329_330delinsAC (p.Tyr110=)
c.419_420delinsAC (p.Tyr140=)
1g.40078642delCA263537PPT1c.641del (p.Tyr214SerfsTer5)
c.644del (p.Tyr215SerfsTer5)
c.335del (p.Tyr112SerfsTer5)
c.413del (p.Tyr138SerfsTer5)
c.-14del (n.-14del)
c.*267del (n.*267del)
c.622del
n.881del
c.149-1729del
c.731del (p.Tyr244SerfsTer5)
c.*496del (n.*496del)
c.*73del (n.*73del)
n.41del
c.329del (p.Tyr110SerfsTer5)
c.419del (p.Tyr140SerfsTer5)
 ClinVar dbSNP
1g.40078642T>ACA339846910PPT1c.641A>T (p.Tyr214Phe)
c.644A>T (p.Tyr215Phe)
c.335A>T (p.Tyr112Phe)
c.413A>T (p.Tyr138Phe)
c.-14A>T (n.-14A>T)
c.*267A>T (n.*267A>T)
c.622A>T
n.881A>T
c.149-1729A>T
c.731A>T (p.Tyr244Phe)
c.*496A>T (n.*496A>T)
c.*73A>T (n.*73A>T)
n.41A>T
c.329A>T (p.Tyr110Phe)
c.419A>T (p.Tyr140Phe)
1g.40078642T>CCA339846912PPT1c.641A>G (p.Tyr214Cys)
c.644A>G (p.Tyr215Cys)
c.335A>G (p.Tyr112Cys)
c.413A>G (p.Tyr138Cys)
c.-14A>G (n.-14A>G)
c.*267A>G (n.*267A>G)
c.622A>G
n.881A>G
c.149-1729A>G
c.731A>G (p.Tyr244Cys)
c.*496A>G (n.*496A>G)
c.*73A>G (n.*73A>G)
n.41A>G
c.329A>G (p.Tyr110Cys)
c.419A>G (p.Tyr140Cys)
 ClinVar dbSNP
1g.40078642T>GCA339846914PPT1c.641A>C (p.Tyr214Ser)
c.644A>C (p.Tyr215Ser)
c.335A>C (p.Tyr112Ser)
c.413A>C (p.Tyr138Ser)
c.-14A>C (n.-14A>C)
c.*267A>C (n.*267A>C)
c.622A>C
n.881A>C
c.149-1729A>C
c.731A>C (p.Tyr244Ser)
c.*496A>C (n.*496A>C)
c.*73A>C (n.*73A>C)
n.41A>C
c.329A>C (p.Tyr110Ser)
c.419A>C (p.Tyr140Ser)
1g.40078642T=CA1144228759PPT1c.641A= (p.Tyr214=)
c.644A= (p.Tyr215=)
c.335A= (p.Tyr112=)
c.413A= (p.Tyr138=)
c.-14A= (n.-14A=)
c.*267A= (n.*267A=)
c.622A=
n.881A=
c.149-1729A=
c.731A= (p.Tyr244=)
c.*496A= (n.*496A=)
c.*73A= (n.*73A=)
n.41A=
c.329A= (p.Tyr110=)
c.419A= (p.Tyr140=)
1g.40078643A>CCA339846918PPT1c.640T>G (p.Tyr214Asp)
c.643T>G (p.Tyr215Asp)
c.334T>G (p.Tyr112Asp)
c.412T>G (p.Tyr138Asp)
c.-15T>G (n.-15T>G)
c.*266T>G (n.*266T>G)
c.621T>G
n.880T>G
c.149-1730T>G
c.730T>G (p.Tyr244Asp)
c.*495T>G (n.*495T>G)
c.*72T>G (n.*72T>G)
n.40T>G
c.328T>G (p.Tyr110Asp)
c.418T>G (p.Tyr140Asp)
1g.40078643A>GCA339846919PPT1c.640T>C (p.Tyr214His)
c.643T>C (p.Tyr215His)
c.334T>C (p.Tyr112His)
c.412T>C (p.Tyr138His)
c.-15T>C (n.-15T>C)
c.*266T>C (n.*266T>C)
c.621T>C
n.880T>C
c.149-1730T>C
c.730T>C (p.Tyr244His)
c.*495T>C (n.*495T>C)
c.*72T>C (n.*72T>C)
n.40T>C
c.328T>C (p.Tyr110His)
c.418T>C (p.Tyr140His)
1g.40078643A>TCA339846920PPT1c.640T>A (p.Tyr214Asn)
c.643T>A (p.Tyr215Asn)
c.334T>A (p.Tyr112Asn)
c.412T>A (p.Tyr138Asn)
c.-15T>A (n.-15T>A)
c.*266T>A (n.*266T>A)
c.621T>A
n.880T>A
c.149-1730T>A
c.730T>A (p.Tyr244Asn)
c.*495T>A (n.*495T>A)
c.*72T>A (n.*72T>A)
n.40T>A
c.328T>A (p.Tyr110Asn)
c.418T>A (p.Tyr140Asn)
1g.40078644G>ACA417322236PPT1c.639C>T (p.Ser213=)
c.642C>T (p.Ser214=)
c.333C>T (p.Ser111=)
c.411C>T (p.Ser137=)
c.-16C>T (n.-16C>T)
c.*265C>T (n.*265C>T)
c.620C>T
n.879C>T
c.149-1731C>T
c.729C>T (p.Ser243=)
c.*494C>T (n.*494C>T)
c.*71C>T (n.*71C>T)
n.39C>T
c.327C>T (p.Ser109=)
c.417C>T (p.Ser139=)
 gnomAD v4
1g.40078644G>CCA417322237PPT1c.639C>G (p.Ser213=)
c.642C>G (p.Ser214=)
c.333C>G (p.Ser111=)
c.411C>G (p.Ser137=)
c.-16C>G (n.-16C>G)
c.*265C>G (n.*265C>G)
c.620C>G
n.879C>G
c.149-1731C>G
c.729C>G (p.Ser243=)
c.*494C>G (n.*494C>G)
c.*71C>G (n.*71C>G)
n.39C>G
c.327C>G (p.Ser109=)
c.417C>G (p.Ser139=)
1g.40078644G>TCA417322235PPT1c.639C>A (p.Ser213=)
c.642C>A (p.Ser214=)
c.333C>A (p.Ser111=)
c.411C>A (p.Ser137=)
c.-16C>A (n.-16C>A)
c.*265C>A (n.*265C>A)
c.620C>A
n.879C>A
c.149-1731C>A
c.729C>A (p.Ser243=)
c.*494C>A (n.*494C>A)
c.*71C>A (n.*71C>A)
n.39C>A
c.327C>A (p.Ser109=)
c.417C>A (p.Ser139=)
1g.40078645delCA2645091484PPT1c.639del (p.Tyr214ThrfsTer5)
c.642del (p.Tyr215ThrfsTer5)
c.333del (p.Tyr112ThrfsTer5)
c.411del (p.Tyr138ThrfsTer5)
c.-16del (n.-16del)
c.*265del (n.*265del)
c.620del
n.879del
c.149-1731del
c.729del (p.Tyr244ThrfsTer5)
c.*494del (n.*494del)
c.*71del (n.*71del)
n.39del
c.327del (p.Tyr110ThrfsTer5)
c.417del (p.Tyr140ThrfsTer5)
 gnomAD v4
1g.40078645_40078661delCA2739272470PPT1c.625-2_639del
c.628-2_642del
c.319-2_333del
c.397-2_411del
c.-30-2_-16del
c.*251-2_*265del
c.606-2_620del
n.865-2_879del
c.149-1747_149-1731del
c.715-2_729del
c.*480-2_*494del
c.*57-2_*71del
n.25-2_39del
c.313-2_327del
c.403-2_417del
 ClinVar
1g.40078645G>ACA339846923PPT1c.638C>T (p.Ser213Phe)
c.641C>T (p.Ser214Phe)
c.332C>T (p.Ser111Phe)
c.410C>T (p.Ser137Phe)
c.-17C>T (n.-17C>T)
c.*264C>T (n.*264C>T)
c.619C>T
n.878C>T
c.149-1732C>T
c.728C>T (p.Ser243Phe)
c.*493C>T (n.*493C>T)
c.*70C>T (n.*70C>T)
n.38C>T
c.326C>T (p.Ser109Phe)
c.416C>T (p.Ser139Phe)
1g.40078645G>CCA339846925PPT1c.638C>G (p.Ser213Cys)
c.641C>G (p.Ser214Cys)
c.332C>G (p.Ser111Cys)
c.410C>G (p.Ser137Cys)
c.-17C>G (n.-17C>G)
c.*264C>G (n.*264C>G)
c.619C>G
n.878C>G
c.149-1732C>G
c.728C>G (p.Ser243Cys)
c.*493C>G (n.*493C>G)
c.*70C>G (n.*70C>G)
n.38C>G
c.326C>G (p.Ser109Cys)
c.416C>G (p.Ser139Cys)
1g.40078645G>TCA339846926PPT1c.638C>A (p.Ser213Tyr)
c.641C>A (p.Ser214Tyr)
c.332C>A (p.Ser111Tyr)
c.410C>A (p.Ser137Tyr)
c.-17C>A (n.-17C>A)
c.*264C>A (n.*264C>A)
c.619C>A
n.878C>A
c.149-1732C>A
c.728C>A (p.Ser243Tyr)
c.*493C>A (n.*493C>A)
c.*70C>A (n.*70C>A)
n.38C>A
c.326C>A (p.Ser109Tyr)
c.416C>A (p.Ser139Tyr)

Number of alleles fetched