Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.40078552T>C | CA1164245515 | PPT1 | c.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 |
1 | g.40078552T= | CA1164245516 | PPT1 | c.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=) | |
1 | g.40078553G= | CA1164245517 | PPT1 | c.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=) | |
1 | g.40078553G>T | CA522418053 | PPT1 | c.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 |
1 | g.40078555C>G | CA2645091408 | PPT1 | c.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 |
1 | g.40078556T>C | CA2574329637 | PPT1 | c.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) | |
1 | g.40078557C>A | CA2499214701 | PPT1 | c.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 |
1 | g.40078558A= | CA1164245518 | PPT1 | c.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=) | |
1 | g.40078558A>C | CA339846531 | PPT1 | c.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 |
1 | g.40078558A>G | CA339846527 | PPT1 | c.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 |
1 | g.40078558A>T | CA339846529 | PPT1 | c.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) | |
1 | g.40078559C>A | CA339846533 | PPT1 | c.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) | |
1 | g.40078559C>G | CA339846538 | PPT1 | c.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) | |
1 | g.40078559C>T | CA339846541 | PPT1 | c.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) | |
1 | g.40078560C>A | CA339846544 | PPT1 | c.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) | |
1 | g.40078560C>G | CA339846546 | PPT1 | c.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) | |
1 | g.40078560C>T | CA417322190 | PPT1 | c.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=) | |
1 | g.40078561T>A | CA339846548 | PPT1 | c.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) | |
1 | g.40078561T>C | CA339846551 | PPT1 | c.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) | |
1 | g.40078561T>G | CA339846549 | PPT1 | c.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) | |
1 | g.40078562C>A | CA339846554 | PPT1 | c.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) | |
1 | g.40078562C>G | CA339846556 | PPT1 | c.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) | |
1 | g.40078562C>T | CA339846558 | PPT1 | c.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) | |
1 | g.40078563C>A | CA417322191 | PPT1 | c.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 |
1 | g.40078563C= | CA1164245519 | PPT1 | c.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=) | |
1 | g.40078563C>G | CA417322192 | PPT1 | c.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=) | |
1 | g.40078563C>T | CA789584 | PPT1 | c.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 |
1 | g.40078564G>A | CA247056 | PPT1 | c.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 |
1 | g.40078564G>C | CA339846562 | PPT1 | c.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) | |
1 | g.40078564G= | CA1148280954 | PPT1 | c.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=) | |
1 | g.40078564G>T | CA339846561 | PPT1 | c.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 |
1 | g.40078564_40078565del | CA913074740 | PPT1 | c.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?) | |
1 | g.40078564_40078565delinsGA | CA1164245520 | PPT1 | c.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=) | |
1 | g.40078565A>C | CA339846564 | PPT1 | c.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) | |
1 | g.40078565A>G | CA339846566 | PPT1 | c.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) | |
1 | g.40078565A>T | CA339846567 | PPT1 | c.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) | |
1 | g.40078566del | CA658821010 | PPT1 | c.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 |
1 | g.40078566A>C | CA339846568 | PPT1 | c.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) | |
1 | g.40078566A>G | CA417322193 | PPT1 | c.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=) | |
1 | g.40078566A>T | CA339846570 | PPT1 | c.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) | |
1 | g.40078567T>A | CA339846572 | PPT1 | c.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) | |
1 | g.40078567T>C | CA339846574 | PPT1 | c.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) | |
1 | g.40078567T>G | CA339846576 | PPT1 | c.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) | |
1 | g.40078568C>A | CA339846578 | PPT1 | c.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) | |
1 | g.40078568C= | CA1164245521 | PPT1 | c.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=) | |
1 | g.40078568C>G | CA339846580 | PPT1 | c.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) | |
1 | g.40078568C>T | CA316949 | PPT1 | c.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 |
1 | g.40078569T>A | CA417322194 | PPT1 | c.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 |
1 | g.40078569T>C | CA417322195 | PPT1 | c.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 |
1 | g.40078569T>G | CA417322196 | PPT1 | c.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=) | |
1 | g.40078569T= | CA1164245522 | PPT1 | c.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=) | |
1 | g.40078570A>C | CA339846583 | PPT1 | c.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) | |
1 | g.40078570A>G | CA339846587 | PPT1 | c.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) | |
1 | g.40078570A>T | CA339846585 | PPT1 | c.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) | |
1 | g.40078571C>A | CA339846590 | PPT1 | c.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) | |
1 | g.40078571C= | CA1164245523 | PPT1 | c.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=) | |
1 | g.40078571C>G | CA339846594 | PPT1 | c.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 |
1 | g.40078571C>T | CA339846592 | PPT1 | c.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) | |
1 | g.40078572A>C | CA417322197 | PPT1 | c.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=) | |
1 | g.40078572A>G | CA417322198 | PPT1 | c.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=) | |
1 | g.40078572A>T | CA417322199 | PPT1 | c.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=) | |
1 | g.40078573G>A | CA10581621 | PPT1 | c.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 |
1 | g.40078573G>C | CA339846597 | PPT1 | c.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) | |
1 | g.40078573G= | CA1164245524 | PPT1 | c.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=) | |
1 | g.40078573G>T | CA339846599 | PPT1 | c.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) | |
1 | g.40078574_40078575del | CA2499214702 | PPT1 | c.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 |
1 | g.40078574G>A | CA339846600 | PPT1 | c.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) | |
1 | g.40078574G>C | CA339846602 | PPT1 | c.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) | |
1 | g.40078574G>T | CA339846604 | PPT1 | c.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) | |
1 | g.40078574_40078578delinsTCT | CA2580062730 | PPT1 | c.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 |
1 | g.40078575G>A | CA417322200 | PPT1 | c.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 |
1 | g.40078575G>C | CA339846606 | PPT1 | c.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) | |
1 | g.40078575G= | CA1164245525 | PPT1 | c.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=) | |
1 | g.40078575G>T | CA339846608 | PPT1 | c.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) | |
1 | g.40078576T>A | CA789585 | PPT1 | c.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 |
1 | g.40078576T>C | CA339846609 | PPT1 | c.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) | |
1 | g.40078576T>G | CA339846611 | PPT1 | c.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) | |
1 | g.40078576T= | CA1148009036 | PPT1 | c.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=) | |
1 | g.40078577C>A | CA339846618 | PPT1 | c.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) | |
1 | g.40078577C>G | CA339846616 | PPT1 | c.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) | |
1 | g.40078577C>T | CA339846614 | PPT1 | c.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) | |
1 | g.40078578C>A | CA417322201 | PPT1 | c.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=) | |
1 | g.40078578C>G | CA417322202 | PPT1 | c.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=) | |
1 | g.40078578C>T | CA417322203 | PPT1 | c.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 |
1 | g.40078579A= | CA1164245526 | PPT1 | c.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=) | |
1 | g.40078579A>C | CA339846619 | PPT1 | c.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) | |
1 | g.40078579A>G | CA339846622 | PPT1 | c.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) | |
1 | g.40078579A>T | CA10581622 | PPT1 | c.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 |
1 | g.40078580C>A | CA339846626 | PPT1 | c.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) | |
1 | g.40078580C>G | CA339846628 | PPT1 | c.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) | |
1 | g.40078580C>T | CA339846629 | PPT1 | c.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) | |
1 | g.40078581A= | CA1164245527 | PPT1 | c.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=) | |
1 | g.40078581A>C | CA339846630 | PPT1 | c.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) | |
1 | g.40078581A>G | CA10610994 | PPT1 | c.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 |
1 | g.40078581A>T | CA417322204 | PPT1 | c.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=) | |
1 | g.40078582A>C | CA339846634 | PPT1 | c.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) | |
1 | g.40078582A>G | CA339846635 | PPT1 | c.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 |
1 | g.40078582A>T | CA339846636 | PPT1 | c.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) | |
1 | g.40078583T>A | CA339846642 | PPT1 | c.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) | |
1 | g.40078583T>C | CA339846641 | PPT1 | c.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) | |
1 | g.40078583T>G | CA339846639 | PPT1 | c.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) | |
1 | g.40078584G>A | CA789586 | PPT1 | c.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 |
1 | g.40078584G>C | CA417322205 | PPT1 | c.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=) | |
1 | g.40078584G= | CA1164245528 | PPT1 | c.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=) | |
1 | g.40078584G>T | CA417322206 | PPT1 | c.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=) | |
1 | g.40078585G>A | CA339846645 | PPT1 | c.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) | |
1 | g.40078585G>C | CA339846647 | PPT1 | c.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) | |
1 | g.40078585G>T | CA339846649 | PPT1 | c.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) | |
1 | g.40078586A>C | CA339846651 | PPT1 | c.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) | |
1 | g.40078586A>G | CA339846653 | PPT1 | c.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) | |
1 | g.40078586A>T | CA339846655 | PPT1 | c.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) | |
1 | g.40078587A>C | CA339846660 | PPT1 | c.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) | |
1 | g.40078587A>G | CA417322207 | PPT1 | c.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 |
1 | g.40078587A>T | CA339846662 | PPT1 | c.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) | |
1 | g.40078588T>A | CA339846664 | PPT1 | c.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) | |
1 | g.40078588T>C | CA339846666 | PPT1 | c.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) | |
1 | g.40078588T>G | CA339846668 | PPT1 | c.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) | |
1 | g.40078589C>A | CA339846674 | PPT1 | c.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) | |
1 | g.40078589C>G | CA339846672 | PPT1 | c.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) | |
1 | g.40078589C>T | CA339846670 | PPT1 | c.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) | |
1 | g.40078590A= | CA1148412025 | PPT1 | c.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=) | |
1 | g.40078590A>C | CA339846676 | PPT1 | c.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 |
1 | g.40078590A>G | CA789587 | PPT1 | c.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 |
1 | g.40078590A>T | CA339846679 | PPT1 | c.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) | |
1 | g.40078591T>A | CA339846680 | PPT1 | c.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) | |
1 | g.40078591T>C | CA789588 | PPT1 | c.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 |
1 | g.40078591T>G | CA339846684 | PPT1 | c.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 |
1 | g.40078591T= | CA1164245529 | PPT1 | c.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=) | |
1 | g.40078592T>A | CA339846685 | PPT1 | c.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) | |
1 | g.40078592T>C | CA339846687 | PPT1 | c.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) | |
1 | g.40078592T>G | CA339846689 | PPT1 | c.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) | |
1 | g.40078593G>A | CA417322208 | PPT1 | c.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 |
1 | g.40078593G>C | CA417322209 | PPT1 | c.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 |
1 | g.40078593G>T | CA417322210 | PPT1 | c.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=) | |
1 | g.40078594A>C | CA339846691 | PPT1 | c.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 |
1 | g.40078594A>G | CA339846693 | PPT1 | c.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) | |
1 | g.40078594A>T | CA339846696 | PPT1 | c.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) | |
1 | g.40078595G>A | CA339846702 | PPT1 | c.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) | |
1 | g.40078595G>C | CA339846700 | PPT1 | c.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) | |
1 | g.40078595G>T | CA339846698 | PPT1 | c.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) | |
1 | g.40078596G>A | CA417322211 | PPT1 | c.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 |
1 | g.40078596G>C | CA339846704 | PPT1 | c.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) | |
1 | g.40078596G= | CA1164245530 | PPT1 | c.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=) | |
1 | g.40078596G>T | CA339846706 | PPT1 | c.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) | |
1 | g.40078597A>C | CA339846708 | PPT1 | c.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) | |
1 | g.40078597A>G | CA339846710 | PPT1 | c.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) | |
1 | g.40078597A>T | CA339846711 | PPT1 | c.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) | |
1 | g.40078598A>C | CA339846712 | PPT1 | c.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) | |
1 | g.40078598A>G | CA339846714 | PPT1 | c.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) | |
1 | g.40078598A>T | CA339846715 | PPT1 | c.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) | |
1 | g.40078599T>A | CA339846719 | PPT1 | c.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) | |
1 | g.40078599T>C | CA417322212 | PPT1 | c.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 |
1 | g.40078599T>G | CA339846717 | PPT1 | c.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) | |
1 | g.40078600T>A | CA339846720 | PPT1 | c.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) | |
1 | g.40078600T>C | CA339846722 | PPT1 | c.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) | |
1 | g.40078600T>G | CA339846723 | PPT1 | c.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) | |
1 | g.40078601T>A | CA339846725 | PPT1 | c.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) | |
1 | g.40078601T>C | CA339846726 | PPT1 | c.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) | |
1 | g.40078601T>G | CA339846728 | PPT1 | c.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) | |
1 | g.40078602C>A | CA417322214 | PPT1 | c.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=) | |
1 | g.40078602C>G | CA417322213 | PPT1 | c.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=) | |
1 | g.40078602C>T | CA417322215 | PPT1 | c.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 |
1 | g.40078602_40078606del | CA2580062732 | PPT1 | c.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 |
1 | g.40078603A= | CA1144228752 | PPT1 | c.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=) | |
1 | g.40078603A>C | CA263543 | PPT1 | c.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 |
1 | g.40078603A>G | CA339846731 | PPT1 | c.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) | |
1 | g.40078603A>T | CA339846734 | PPT1 | c.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) | |
1 | g.40078604C>A | CA339846737 | PPT1 | c.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) | |
1 | g.40078604C>G | CA339846739 | PPT1 | c.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) | |
1 | g.40078604C>T | CA339846741 | PPT1 | c.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) | |
1 | g.40078605C>A | CA339846743 | PPT1 | c.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) | |
1 | g.40078605C>G | CA339846745 | PPT1 | c.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) | |
1 | g.40078605C>T | CA339846747 | PPT1 | c.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) | |
1 | g.40078606A= | CA1164245531 | PPT1 | c.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=) | |
1 | g.40078606A>C | CA339846750 | PPT1 | c.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) | |
1 | g.40078606A>G | CA339846752 | PPT1 | c.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 |
1 | g.40078606A>T | CA339846755 | PPT1 | c.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) | |
1 | g.40078607T>A | CA339846757 | PPT1 | c.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 |
1 | g.40078607T>C | CA789589 | PPT1 | c.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 |
1 | g.40078607T>G | CA339846760 | PPT1 | c.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) | |
1 | g.40078607T= | CA1164245532 | PPT1 | c.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=) | |
1 | g.40078608C>A | CA417322216 | PPT1 | c.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=) | |
1 | g.40078608C= | CA1164245533 | PPT1 | c.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=) | |
1 | g.40078608C>G | CA417322217 | PPT1 | c.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 |
1 | g.40078608C>T | CA417322218 | PPT1 | c.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 |
1 | g.40078609A>C | CA339846762 | PPT1 | c.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) | |
1 | g.40078609A>G | CA339846766 | PPT1 | c.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) | |
1 | g.40078609A>T | CA339846764 | PPT1 | c.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) | |
1 | g.40078610C>A | CA339846768 | PPT1 | c.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) | |
1 | g.40078610C= | CA1144043781 | PPT1 | c.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=) | |
1 | g.40078610C>G | CA339846770 | PPT1 | c.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) | |
1 | g.40078610C>T | CA789590 | PPT1 | c.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 |
1 | g.40078611A= | CA1164245534 | PPT1 | c.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=) | |
1 | g.40078611A>C | CA339846773 | PPT1 | c.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) | |
1 | g.40078611A>G | CA417322219 | PPT1 | c.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 |
1 | g.40078611A>T | CA339846775 | PPT1 | c.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) | |
1 | g.40078612A= | CA1144228754 | PPT1 | c.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=) | |
1 | g.40078612A>C | CA339846777 | PPT1 | c.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) | |
1 | g.40078612A>G | CA263540 | PPT1 | c.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 |
1 | g.40078612A>T | CA339846780 | PPT1 | c.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) | |
1 | g.40078613A>C | CA339846784 | PPT1 | c.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) | |
1 | g.40078613A>G | CA339846785 | PPT1 | c.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) | |
1 | g.40078613A>T | CA339846787 | PPT1 | c.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) | |
1 | g.40078614C>A | CA339846789 | PPT1 | c.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) | |
1 | g.40078614C>G | CA339846790 | PPT1 | c.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) | |
1 | g.40078614C>T | CA417322220 | PPT1 | c.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=) | |
1 | g.40078618_40078620del | CA2645091429 | PPT1 | c.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 |
1 | g.40078615T>A | CA339846792 | PPT1 | c.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) | |
1 | g.40078615T>C | CA339846797 | PPT1 | c.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) | |
1 | g.40078615T>G | CA339846794 | PPT1 | c.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) | |
1 | g.40078616T>A | CA339846798 | PPT1 | c.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) | |
1 | g.40078616T>C | CA339846799 | PPT1 | c.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) | |
1 | g.40078616T>G | CA339846801 | PPT1 | c.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) | |
1 | g.40078617C>A | CA339846803 | PPT1 | c.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 |
1 | g.40078617C= | CA1164245535 | PPT1 | c.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=) | |
1 | g.40078617C>G | CA339846805 | PPT1 | c.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) | |
1 | g.40078617C>T | CA417322221 | PPT1 | c.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 |
1 | g.40078618T>A | CA339846806 | PPT1 | c.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) | |
1 | g.40078618T>C | CA339846807 | PPT1 | c.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) | |
1 | g.40078618T>G | CA339846808 | PPT1 | c.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) | |
1 | g.40078619T>A | CA339846809 | PPT1 | c.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) | |
1 | g.40078619T>C | CA339846811 | PPT1 | c.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) | |
1 | g.40078619T>G | CA339846813 | PPT1 | c.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) | |
1 | g.40078620C>A | CA417322222 | PPT1 | c.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=) | |
1 | g.40078620C>G | CA417322223 | PPT1 | c.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=) | |
1 | g.40078620C>T | CA417322224 | PPT1 | c.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=) | |
1 | g.40078620_40078621del | CA2580062734 | PPT1 | c.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 |
1 | g.40078621A= | CA1144228757 | PPT1 | c.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=) | |
1 | g.40078621A>C | CA339846818 | PPT1 | c.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) | |
1 | g.40078621A>G | CA263538 | PPT1 | c.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 |
1 | g.40078621A>T | CA339846815 | PPT1 | c.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) | |
1 | g.40078622G>A | CA417322225 | PPT1 | c.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=) | |
1 | g.40078622G>C | CA339846821 | PPT1 | c.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) | |
1 | g.40078622G>T | CA339846820 | PPT1 | c.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) | |
1 | g.40078623G>A | CA417322228 | PPT1 | c.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 |
1 | g.40078623G>C | CA417322227 | PPT1 | c.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=) | |
1 | g.40078623G>T | CA417322226 | PPT1 | c.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=) | |
1 | g.40078624G>A | CA339846828 | PPT1 | c.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 |
1 | g.40078624G>C | CA339846824 | PPT1 | c.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) | |
1 | g.40078624G>T | CA339846826 | PPT1 | c.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) | |
1 | g.40078625C>A | CA339846830 | PPT1 | c.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) | |
1 | g.40078625C>G | CA339846832 | PPT1 | c.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) | |
1 | g.40078625C>T | CA339846834 | PPT1 | c.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 |
1 | g.40078626C>A | CA339846835 | PPT1 | c.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) | |
1 | g.40078626C>G | CA339846837 | PPT1 | c.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) | |
1 | g.40078626C>T | CA339846839 | PPT1 | c.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) | |
1 | g.40078627A>C | CA339846840 | PPT1 | c.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) | |
1 | g.40078627A>G | CA339846843 | PPT1 | c.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 |
1 | g.40078627A>T | CA339846845 | PPT1 | c.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) | |
1 | g.40078628T>A | CA339846846 | PPT1 | c.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) | |
1 | g.40078628T>C | CA339846849 | PPT1 | c.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 |
1 | g.40078628T>G | CA339846851 | PPT1 | c.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) | |
1 | g.40078629C>A | CA417322229 | PPT1 | c.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=) | |
1 | g.40078629C= | CA1164245536 | PPT1 | c.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=) | |
1 | g.40078629C>G | CA789591 | PPT1 | c.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 |
1 | g.40078629C>T | CA417322230 | PPT1 | c.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=) | |
1 | g.40078630A= | CA1141580713 | PPT1 | c.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=) | |
1 | g.40078630A>C | CA339846854 | PPT1 | c.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) | |
1 | g.40078630A>G | CA339846856 | PPT1 | c.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) | |
1 | g.40078630A>T | CA254581 | PPT1 | c.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 |
1 | g.40078631G>A | CA417322231 | PPT1 | c.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=) | |
1 | g.40078631G>C | CA339846859 | PPT1 | c.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) | |
1 | g.40078631G>T | CA339846860 | PPT1 | c.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) | |
1 | g.40078632G>A | CA417322232 | PPT1 | c.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=) | |
1 | g.40078632G>C | CA339846862 | PPT1 | c.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 |
1 | g.40078632G= | CA1164245537 | PPT1 | c.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=) | |
1 | g.40078632G>T | CA339846863 | PPT1 | c.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 |
1 | g.40078633T>A | CA339846864 | PPT1 | c.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) | |
1 | g.40078633T>C | CA339846866 | PPT1 | c.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) | |
1 | g.40078633T>G | CA339846868 | PPT1 | c.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) | |
1 | g.40078637dup | CA16040727 | PPT1 | c.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 |
1 | g.40078637del | CA2580062735 | PPT1 | c.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 |
1 | g.40078634T>A | CA339846870 | PPT1 | c.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 |
1 | g.40078634T>C | CA339846872 | PPT1 | c.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) | |
1 | g.40078634T>G | CA339846874 | PPT1 | c.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) | |
1 | g.40078635T>A | CA339846876 | PPT1 | c.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) | |
1 | g.40078635T>C | CA417322233 | PPT1 | c.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 |
1 | g.40078635T>G | CA339846878 | PPT1 | c.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) | |
1 | g.40078635T= | CA1164245538 | PPT1 | c.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=) | |
1 | g.40078636T>A | CA339846880 | PPT1 | c.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) | |
1 | g.40078636T>C | CA339846882 | PPT1 | c.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 |
1 | g.40078636T>G | CA339846884 | PPT1 | c.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) | |
1 | g.40078636T= | CA1164245539 | PPT1 | c.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=) | |
1 | g.40078637T>A | CA339846886 | PPT1 | c.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) | |
1 | g.40078637T>C | CA339846888 | PPT1 | c.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) | |
1 | g.40078637T>G | CA339846890 | PPT1 | c.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) | |
1 | g.40078638C>A | CA339846892 | PPT1 | c.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) | |
1 | g.40078638C= | CA1164245540 | PPT1 | c.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=) | |
1 | g.40078638C>G | CA789592 | PPT1 | c.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 |
1 | g.40078638C>T | CA417322234 | PPT1 | c.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=) | |
1 | g.40078639T>A | CA339846896 | PPT1 | c.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 |
1 | g.40078639T>C | CA339846898 | PPT1 | c.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 |
1 | g.40078639T>G | CA339846900 | PPT1 | c.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) | |
1 | g.40078639T= | CA1164245541 | PPT1 | c.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=) | |
1 | g.40078640T>A | CA339846902 | PPT1 | c.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) | |
1 | g.40078640T>C | CA789593 | PPT1 | c.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 |
1 | g.40078640T>G | CA339846904 | PPT1 | c.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 |
1 | g.40078640T= | CA1164245542 | PPT1 | c.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=) | |
1 | g.40078641G>A | CA21005856 | PPT1 | c.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 |
1 | g.40078641G>C | CA339846905 | PPT1 | c.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) | |
1 | g.40078641G= | CA1164245544 | PPT1 | c.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=) | |
1 | g.40078641G>T | CA339846907 | PPT1 | c.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) | |
1 | g.40078641_40078642delinsGT | CA1164245543 | PPT1 | c.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=) | |
1 | g.40078642del | CA263537 | PPT1 | c.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 |
1 | g.40078642T>A | CA339846910 | PPT1 | c.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) | |
1 | g.40078642T>C | CA339846912 | PPT1 | c.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 |
1 | g.40078642T>G | CA339846914 | PPT1 | c.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) | |
1 | g.40078642T= | CA1144228759 | PPT1 | c.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=) | |
1 | g.40078643A>C | CA339846918 | PPT1 | c.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) | |
1 | g.40078643A>G | CA339846919 | PPT1 | c.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) | |
1 | g.40078643A>T | CA339846920 | PPT1 | c.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) | |
1 | g.40078644G>A | CA417322236 | PPT1 | c.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 |
1 | g.40078644G>C | CA417322237 | PPT1 | c.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=) | |
1 | g.40078644G>T | CA417322235 | PPT1 | c.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=) | |
1 | g.40078645del | CA2645091484 | PPT1 | c.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 |
1 | g.40078645_40078661del | CA2739272470 | PPT1 | c.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 |
1 | g.40078645G>A | CA339846923 | PPT1 | c.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) | |
1 | g.40078645G>C | CA339846925 | PPT1 | c.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) | |
1 | g.40078645G>T | CA339846926 | PPT1 | c.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) | |
1 | g.40078646A= | CA1164245545 | PPT1 | c.637T= (p.Ser213=) c.640T= (p.Ser214=) c.331T= (p.Ser111=) c.409T= (p.Ser137=) c.-18T= (n.-18T=) c.*263T= (n.*263T=) c.618T= n.877T= c.149-1733T= c.727T= (p.Ser243=) c.*492T= (n.*492T=) c.*69T= (n.*69T=) n.37T= c.325T= (p.Ser109=) c.415T= (p.Ser139=) | |
1 | g.40078646A>C | CA339846929 | PPT1 | c.637T>G (p.Ser213Ala) c.640T>G (p.Ser214Ala) c.331T>G (p.Ser111Ala) c.409T>G (p.Ser137Ala) c.-18T>G (n.-18T>G) c.*263T>G (n.*263T>G) c.618T>G n.877T>G c.149-1733T>G c.727T>G (p.Ser243Ala) c.*492T>G (n.*492T>G) c.*69T>G (n.*69T>G) n.37T>G c.325T>G (p.Ser109Ala) c.415T>G (p.Ser139Ala) | dbSNP |
1 | g.40078646A>G | CA339846930 | PPT1 | c.637T>C (p.Ser213Pro) c.640T>C (p.Ser214Pro) c.331T>C (p.Ser111Pro) c.409T>C (p.Ser137Pro) c.-18T>C (n.-18T>C) c.*263T>C (n.*263T>C) c.618T>C n.877T>C c.149-1733T>C c.727T>C (p.Ser243Pro) c.*492T>C (n.*492T>C) c.*69T>C (n.*69T>C) n.37T>C c.325T>C (p.Ser109Pro) c.415T>C (p.Ser139Pro) | |
1 | g.40078646A>T | CA339846931 | PPT1 | c.637T>A (p.Ser213Thr) c.640T>A (p.Ser214Thr) c.331T>A (p.Ser111Thr) c.409T>A (p.Ser137Thr) c.-18T>A (n.-18T>A) c.*263T>A (n.*263T>A) c.618T>A n.877T>A c.149-1733T>A c.727T>A (p.Ser243Thr) c.*492T>A (n.*492T>A) c.*69T>A (n.*69T>A) n.37T>A c.325T>A (p.Ser109Thr) c.415T>A (p.Ser139Thr) | |
1 | g.40078647C>A | CA339846935 | PPT1 | c.636G>T (p.Glu212Asp) c.639G>T (p.Glu213Asp) c.330G>T (p.Glu110Asp) c.408G>T (p.Glu136Asp) c.-19G>T (n.-19G>T) c.*262G>T (n.*262G>T) c.617G>T n.876G>T c.149-1734G>T c.726G>T (p.Glu242Asp) c.*491G>T (n.*491G>T) c.*68G>T (n.*68G>T) n.36G>T c.324G>T (p.Glu108Asp) c.414G>T (p.Glu138Asp) | |
1 | g.40078647C= | CA1164245546 | PPT1 | c.636G= (p.Glu212=) c.639G= (p.Glu213=) c.330G= (p.Glu110=) c.408G= (p.Glu136=) c.-19G= (n.-19G=) c.*262G= (n.*262G=) c.617G= n.876G= c.149-1734G= c.726G= (p.Glu242=) c.*491G= (n.*491G=) c.*68G= (n.*68G=) n.36G= c.324G= (p.Glu108=) c.414G= (p.Glu138=) | |
1 | g.40078647C>G | CA339846937 | PPT1 | c.636G>C (p.Glu212Asp) c.639G>C (p.Glu213Asp) c.330G>C (p.Glu110Asp) c.408G>C (p.Glu136Asp) c.-19G>C (n.-19G>C) c.*262G>C (n.*262G>C) c.617G>C n.876G>C c.149-1734G>C c.726G>C (p.Glu242Asp) c.*491G>C (n.*491G>C) c.*68G>C (n.*68G>C) n.36G>C c.324G>C (p.Glu108Asp) c.414G>C (p.Glu138Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.40078647C>T | CA789594 | PPT1 | c.636G>A (p.Glu212=) c.639G>A (p.Glu213=) c.330G>A (p.Glu110=) c.408G>A (p.Glu136=) c.-19G>A (n.-19G>A) c.*262G>A (n.*262G>A) c.617G>A n.876G>A c.149-1734G>A c.726G>A (p.Glu242=) c.*491G>A (n.*491G>A) c.*68G>A (n.*68G>A) n.36G>A c.324G>A (p.Glu108=) c.414G>A (p.Glu138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40078648T>A | CA339846940 | PPT1 | c.635A>T (p.Glu212Val) c.638A>T (p.Glu213Val) c.329A>T (p.Glu110Val) c.407A>T (p.Glu136Val) c.-20A>T (n.-20A>T) c.*261A>T (n.*261A>T) c.616A>T n.875A>T c.149-1735A>T c.725A>T (p.Glu242Val) c.*490A>T (n.*490A>T) c.*67A>T (n.*67A>T) n.35A>T c.323A>T (p.Glu108Val) c.413A>T (p.Glu138Val) | |
1 | g.40078648T>C | CA339846944 | PPT1 | c.635A>G (p.Glu212Gly) c.638A>G (p.Glu213Gly) c.329A>G (p.Glu110Gly) c.407A>G (p.Glu136Gly) c.-20A>G (n.-20A>G) c.*261A>G (n.*261A>G) c.616A>G n.875A>G c.149-1735A>G c.725A>G (p.Glu242Gly) c.*490A>G (n.*490A>G) c.*67A>G (n.*67A>G) n.35A>G c.323A>G (p.Glu108Gly) c.413A>G (p.Glu138Gly) | |
1 | g.40078648T>G | CA339846942 | PPT1 | c.635A>C (p.Glu212Ala) c.638A>C (p.Glu213Ala) c.329A>C (p.Glu110Ala) c.407A>C (p.Glu136Ala) c.-20A>C (n.-20A>C) c.*261A>C (n.*261A>C) c.616A>C n.875A>C c.149-1735A>C c.725A>C (p.Glu242Ala) c.*490A>C (n.*490A>C) c.*67A>C (n.*67A>C) n.35A>C c.323A>C (p.Glu108Ala) c.413A>C (p.Glu138Ala) | |
1 | g.40078649C>A | CA339846946 | PPT1 | c.634G>T (p.Glu212Ter) c.637G>T (p.Glu213Ter) c.328G>T (p.Glu110Ter) c.406G>T (p.Glu136Ter) c.-21G>T (n.-21G>T) c.*260G>T (n.*260G>T) c.615G>T n.874G>T c.149-1736G>T c.724G>T (p.Glu242Ter) c.*489G>T (n.*489G>T) c.*66G>T (n.*66G>T) n.34G>T c.322G>T (p.Glu108Ter) c.412G>T (p.Glu138Ter) | ClinVar |
1 | g.40078649C= | CA1164245547 | PPT1 | c.634G= (p.Glu212=) c.637G= (p.Glu213=) c.328G= (p.Glu110=) c.406G= (p.Glu136=) c.-21G= (n.-21G=) c.*260G= (n.*260G=) c.615G= n.874G= c.149-1736G= c.724G= (p.Glu242=) c.*489G= (n.*489G=) c.*66G= (n.*66G=) n.34G= c.322G= (p.Glu108=) c.412G= (p.Glu138=) | |
1 | g.40078649C>G | CA339846950 | PPT1 | c.634G>C (p.Glu212Gln) c.637G>C (p.Glu213Gln) c.328G>C (p.Glu110Gln) c.406G>C (p.Glu136Gln) c.-21G>C (n.-21G>C) c.*260G>C (n.*260G>C) c.615G>C n.874G>C c.149-1736G>C c.724G>C (p.Glu242Gln) c.*489G>C (n.*489G>C) c.*66G>C (n.*66G>C) n.34G>C c.322G>C (p.Glu108Gln) c.412G>C (p.Glu138Gln) | |
1 | g.40078649C>T | CA339846948 | PPT1 | c.634G>A (p.Glu212Lys) c.637G>A (p.Glu213Lys) c.328G>A (p.Glu110Lys) c.406G>A (p.Glu136Lys) c.-21G>A (n.-21G>A) c.*260G>A (n.*260G>A) c.615G>A n.874G>A c.149-1736G>A c.724G>A (p.Glu242Lys) c.*489G>A (n.*489G>A) c.*66G>A (n.*66G>A) n.34G>A c.322G>A (p.Glu108Lys) c.412G>A (p.Glu138Lys) | |
1 | g.40078650A>C | CA339846953 | PPT1 | c.633T>G (p.Asn211Lys) c.636T>G (p.Asn212Lys) c.327T>G (p.Asn109Lys) c.405T>G (p.Asn135Lys) c.-22T>G (n.-22T>G) c.*259T>G (n.*259T>G) c.614T>G n.873T>G c.149-1737T>G c.723T>G (p.Asn241Lys) c.*488T>G (n.*488T>G) c.*65T>G (n.*65T>G) n.33T>G c.321T>G (p.Asn107Lys) c.411T>G (p.Asn137Lys) | gnomAD v4 |
1 | g.40078650A>G | CA417322238 | PPT1 | c.633T>C (p.Asn211=) c.636T>C (p.Asn212=) c.327T>C (p.Asn109=) c.405T>C (p.Asn135=) c.-22T>C (n.-22T>C) c.*259T>C (n.*259T>C) c.614T>C n.873T>C c.149-1737T>C c.723T>C (p.Asn241=) c.*488T>C (n.*488T>C) c.*65T>C (n.*65T>C) n.33T>C c.321T>C (p.Asn107=) c.411T>C (p.Asn137=) | gnomAD v4 COSMIC |
1 | g.40078650A>T | CA339846954 | PPT1 | c.633T>A (p.Asn211Lys) c.636T>A (p.Asn212Lys) c.327T>A (p.Asn109Lys) c.405T>A (p.Asn135Lys) c.-22T>A (n.-22T>A) c.*259T>A (n.*259T>A) c.614T>A n.873T>A c.149-1737T>A c.723T>A (p.Asn241Lys) c.*488T>A (n.*488T>A) c.*65T>A (n.*65T>A) n.33T>A c.321T>A (p.Asn107Lys) c.411T>A (p.Asn137Lys) | |
1 | g.40078652_40078655dup | CA789595 | PPT1 | c.630_633dup (p.Glu212GlnfsTer2) c.633_636dup (p.Glu213GlnfsTer2) c.324_327dup (p.Glu110GlnfsTer2) c.402_405dup (p.Glu136GlnfsTer2) c.-25_-22dup (n.-25_-22dup) c.*256_*259dup (n.*256_*259dup) c.611_614dup n.870_873dup c.149-1740_149-1737dup c.720_723dup (p.Glu242GlnfsTer2) c.*485_*488dup (n.*485_*488dup) c.*62_*65dup (n.*62_*65dup) n.30_33dup c.318_321dup (p.Glu108GlnfsTer2) c.408_411dup (p.Glu138GlnfsTer2) | dbSNP ExAC gnomAD v2 |
1 | g.40078651T>A | CA339846957 | PPT1 | c.632A>T (p.Asn211Ile) c.635A>T (p.Asn212Ile) c.326A>T (p.Asn109Ile) c.404A>T (p.Asn135Ile) c.-23A>T (n.-23A>T) c.*258A>T (n.*258A>T) c.613A>T n.872A>T c.149-1738A>T c.722A>T (p.Asn241Ile) c.*487A>T (n.*487A>T) c.*64A>T (n.*64A>T) n.32A>T c.320A>T (p.Asn107Ile) c.410A>T (p.Asn137Ile) | |
1 | g.40078651T>C | CA789596 | PPT1 | c.632A>G (p.Asn211Ser) c.635A>G (p.Asn212Ser) c.326A>G (p.Asn109Ser) c.404A>G (p.Asn135Ser) c.-23A>G (n.-23A>G) c.*258A>G (n.*258A>G) c.613A>G n.872A>G c.149-1738A>G c.722A>G (p.Asn241Ser) c.*487A>G (n.*487A>G) c.*64A>G (n.*64A>G) n.32A>G c.320A>G (p.Asn107Ser) c.410A>G (p.Asn137Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40078651T>G | CA339846958 | PPT1 | c.632A>C (p.Asn211Thr) c.635A>C (p.Asn212Thr) c.326A>C (p.Asn109Thr) c.404A>C (p.Asn135Thr) c.-23A>C (n.-23A>C) c.*258A>C (n.*258A>C) c.613A>C n.872A>C c.149-1738A>C c.722A>C (p.Asn241Thr) c.*487A>C (n.*487A>C) c.*64A>C (n.*64A>C) n.32A>C c.320A>C (p.Asn107Thr) c.410A>C (p.Asn137Thr) | |
1 | g.40078651T= | CA1147395366 | PPT1 | c.632A= (p.Asn211=) c.635A= (p.Asn212=) c.326A= (p.Asn109=) c.404A= (p.Asn135=) c.-23A= (n.-23A=) c.*258A= (n.*258A=) c.613A= n.872A= c.149-1738A= c.722A= (p.Asn241=) c.*487A= (n.*487A=) c.*64A= (n.*64A=) n.32A= c.320A= (p.Asn107=) c.410A= (p.Asn137=) | |
1 | g.40078652T>A | CA21005886 | PPT1 | c.631A>T (p.Asn211Tyr) c.634A>T (p.Asn212Tyr) c.325A>T (p.Asn109Tyr) c.403A>T (p.Asn135Tyr) c.-24A>T (n.-24A>T) c.*257A>T (n.*257A>T) c.612A>T n.871A>T c.149-1739A>T c.721A>T (p.Asn241Tyr) c.*486A>T (n.*486A>T) c.*63A>T (n.*63A>T) n.31A>T c.319A>T (p.Asn107Tyr) c.409A>T (p.Asn137Tyr) | ClinVar dbSNP |
1 | g.40078652T>C | CA789597 | PPT1 | c.631A>G (p.Asn211Asp) c.634A>G (p.Asn212Asp) c.325A>G (p.Asn109Asp) c.403A>G (p.Asn135Asp) c.-24A>G (n.-24A>G) c.*257A>G (n.*257A>G) c.612A>G n.871A>G c.149-1739A>G c.721A>G (p.Asn241Asp) c.*486A>G (n.*486A>G) c.*63A>G (n.*63A>G) n.31A>G c.319A>G (p.Asn107Asp) c.409A>G (p.Asn137Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.40078652T>G | CA339846962 | PPT1 | c.631A>C (p.Asn211His) c.634A>C (p.Asn212His) c.325A>C (p.Asn109His) c.403A>C (p.Asn135His) c.-24A>C (n.-24A>C) c.*257A>C (n.*257A>C) c.612A>C n.871A>C c.149-1739A>C c.721A>C (p.Asn241His) c.*486A>C (n.*486A>C) c.*63A>C (n.*63A>C) n.31A>C c.319A>C (p.Asn107His) c.409A>C (p.Asn137His) | |
1 | g.40078652T= | CA1144086277 | PPT1 | c.631A= (p.Asn211=) c.634A= (p.Asn212=) c.325A= (p.Asn109=) c.403A= (p.Asn135=) c.-24A= (n.-24A=) c.*257A= (n.*257A=) c.612A= n.871A= c.149-1739A= c.721A= (p.Asn241=) c.*486A= (n.*486A=) c.*63A= (n.*63A=) n.31A= c.319A= (p.Asn107=) c.409A= (p.Asn137=) |