Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115414089_115416214delCA2573332827TRPS1c.2824-1128_3821del
c.2785-1128_3782del
c.2047-1128_3044del
c.2797-1128_3794del
c.2803-1128_3800del
8g.115414134G>ACA462658121TRPS1c.3774C>T (p.Cys1258=)
c.3735C>T (p.Cys1245=)
c.2997C>T (p.Cys999=)
c.3747C>T (p.Cys1249=)
c.3753C>T (p.Cys1251=)
8g.115414134G>CCA372062006TRPS1c.3774C>G (p.Cys1258Trp)
c.3735C>G (p.Cys1245Trp)
c.2997C>G (p.Cys999Trp)
c.3747C>G (p.Cys1249Trp)
c.3753C>G (p.Cys1251Trp)
8g.115414134G>TCA372062007TRPS1c.3774C>A (p.Cys1258Ter)
c.3735C>A (p.Cys1245Ter)
c.2997C>A (p.Cys999Ter)
c.3747C>A (p.Cys1249Ter)
c.3753C>A (p.Cys1251Ter)
8g.115414135C>ACA372062008TRPS1c.3773G>T (p.Cys1258Phe)
c.3734G>T (p.Cys1245Phe)
c.2996G>T (p.Cys999Phe)
c.3746G>T (p.Cys1249Phe)
c.3752G>T (p.Cys1251Phe)
8g.115414135C>GCA372062009TRPS1c.3773G>C (p.Cys1258Ser)
c.3734G>C (p.Cys1245Ser)
c.2996G>C (p.Cys999Ser)
c.3746G>C (p.Cys1249Ser)
c.3752G>C (p.Cys1251Ser)
8g.115414135C>TCA372062010TRPS1c.3773G>A (p.Cys1258Tyr)
c.3734G>A (p.Cys1245Tyr)
c.2996G>A (p.Cys999Tyr)
c.3746G>A (p.Cys1249Tyr)
c.3752G>A (p.Cys1251Tyr)
8g.115414136A=CA1812853665TRPS1c.3772T= (p.Cys1258=)
c.3733T= (p.Cys1245=)
c.2995T= (p.Cys999=)
c.3745T= (p.Cys1249=)
c.3751T= (p.Cys1251=)
8g.115414136A>CCA372062013TRPS1c.3772T>G (p.Cys1258Gly)
c.3733T>G (p.Cys1245Gly)
c.2995T>G (p.Cys999Gly)
c.3745T>G (p.Cys1249Gly)
c.3751T>G (p.Cys1251Gly)
8g.115414136A>GCA372062011TRPS1c.3772T>C (p.Cys1258Arg)
c.3733T>C (p.Cys1245Arg)
c.2995T>C (p.Cys999Arg)
c.3745T>C (p.Cys1249Arg)
c.3751T>C (p.Cys1251Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.115414136A>TCA372062012TRPS1c.3772T>A (p.Cys1258Ser)
c.3733T>A (p.Cys1245Ser)
c.2995T>A (p.Cys999Ser)
c.3745T>A (p.Cys1249Ser)
c.3751T>A (p.Cys1251Ser)
8g.115414137C>ACA372062014TRPS1c.3771G>T (p.Gln1257His)
c.3732G>T (p.Gln1244His)
c.2994G>T (p.Gln998His)
c.3744G>T (p.Gln1248His)
c.3750G>T (p.Gln1250His)
 gnomAD v4
8g.115414137C>GCA372062015TRPS1c.3771G>C (p.Gln1257His)
c.3732G>C (p.Gln1244His)
c.2994G>C (p.Gln998His)
c.3744G>C (p.Gln1248His)
c.3750G>C (p.Gln1250His)
8g.115414137C>TCA462658122TRPS1c.3771G>A (p.Gln1257=)
c.3732G>A (p.Gln1244=)
c.2994G>A (p.Gln998=)
c.3744G>A (p.Gln1248=)
c.3750G>A (p.Gln1250=)
8g.115414138T>ACA372062016TRPS1c.3770A>T (p.Gln1257Leu)
c.3731A>T (p.Gln1244Leu)
c.2993A>T (p.Gln998Leu)
c.3743A>T (p.Gln1248Leu)
c.3749A>T (p.Gln1250Leu)
8g.115414138T>CCA4851449TRPS1c.3770A>G (p.Gln1257Arg)
c.3731A>G (p.Gln1244Arg)
c.2993A>G (p.Gln998Arg)
c.3743A>G (p.Gln1248Arg)
c.3749A>G (p.Gln1250Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414138T>GCA372062017TRPS1c.3770A>C (p.Gln1257Pro)
c.3731A>C (p.Gln1244Pro)
c.2993A>C (p.Gln998Pro)
c.3743A>C (p.Gln1248Pro)
c.3749A>C (p.Gln1250Pro)
8g.115414138T=CA1812853667TRPS1c.3770A= (p.Gln1257=)
c.3731A= (p.Gln1244=)
c.2993A= (p.Gln998=)
c.3743A= (p.Gln1248=)
c.3749A= (p.Gln1250=)
8g.115414139G>ACA372062018TRPS1c.3769C>T (p.Gln1257Ter)
c.3730C>T (p.Gln1244Ter)
c.2992C>T (p.Gln998Ter)
c.3742C>T (p.Gln1248Ter)
c.3748C>T (p.Gln1250Ter)
8g.115414139G>CCA372062019TRPS1c.3769C>G (p.Gln1257Glu)
c.3730C>G (p.Gln1244Glu)
c.2992C>G (p.Gln998Glu)
c.3742C>G (p.Gln1248Glu)
c.3748C>G (p.Gln1250Glu)
 gnomAD v4
8g.115414139G>TCA372062020TRPS1c.3769C>A (p.Gln1257Lys)
c.3730C>A (p.Gln1244Lys)
c.2992C>A (p.Gln998Lys)
c.3742C>A (p.Gln1248Lys)
c.3748C>A (p.Gln1250Lys)
8g.115414140G>ACA462658123TRPS1c.3768C>T (p.Phe1256=)
c.3729C>T (p.Phe1243=)
c.2991C>T (p.Phe997=)
c.3741C>T (p.Phe1247=)
c.3747C>T (p.Phe1249=)
 COSMIC COSMIC
8g.115414140G>CCA372062021TRPS1c.3768C>G (p.Phe1256Leu)
c.3729C>G (p.Phe1243Leu)
c.2991C>G (p.Phe997Leu)
c.3741C>G (p.Phe1247Leu)
c.3747C>G (p.Phe1249Leu)
8g.115414140G>TCA372062022TRPS1c.3768C>A (p.Phe1256Leu)
c.3729C>A (p.Phe1243Leu)
c.2991C>A (p.Phe997Leu)
c.3741C>A (p.Phe1247Leu)
c.3747C>A (p.Phe1249Leu)
8g.115414141A>CCA372062023TRPS1c.3767T>G (p.Phe1256Cys)
c.3728T>G (p.Phe1243Cys)
c.2990T>G (p.Phe997Cys)
c.3740T>G (p.Phe1247Cys)
c.3746T>G (p.Phe1249Cys)
8g.115414141A>GCA372062024TRPS1c.3767T>C (p.Phe1256Ser)
c.3728T>C (p.Phe1243Ser)
c.2990T>C (p.Phe997Ser)
c.3740T>C (p.Phe1247Ser)
c.3746T>C (p.Phe1249Ser)
8g.115414141A>TCA372062025TRPS1c.3767T>A (p.Phe1256Tyr)
c.3728T>A (p.Phe1243Tyr)
c.2990T>A (p.Phe997Tyr)
c.3740T>A (p.Phe1247Tyr)
c.3746T>A (p.Phe1249Tyr)
8g.115414142A>CCA372062026TRPS1c.3766T>G (p.Phe1256Val)
c.3727T>G (p.Phe1243Val)
c.2989T>G (p.Phe997Val)
c.3739T>G (p.Phe1247Val)
c.3745T>G (p.Phe1249Val)
8g.115414142A>GCA372062027TRPS1c.3766T>C (p.Phe1256Leu)
c.3727T>C (p.Phe1243Leu)
c.2989T>C (p.Phe997Leu)
c.3739T>C (p.Phe1247Leu)
c.3745T>C (p.Phe1249Leu)
8g.115414142A>TCA372062028TRPS1c.3766T>A (p.Phe1256Ile)
c.3727T>A (p.Phe1243Ile)
c.2989T>A (p.Phe997Ile)
c.3739T>A (p.Phe1247Ile)
c.3745T>A (p.Phe1249Ile)
8g.115414143A>CCA462658124TRPS1c.3765T>G (p.Pro1255=)
c.3726T>G (p.Pro1242=)
c.2988T>G (p.Pro996=)
c.3738T>G (p.Pro1246=)
c.3744T>G (p.Pro1248=)
8g.115414143A>GCA462658125TRPS1c.3765T>C (p.Pro1255=)
c.3726T>C (p.Pro1242=)
c.2988T>C (p.Pro996=)
c.3738T>C (p.Pro1246=)
c.3744T>C (p.Pro1248=)
 gnomAD v4
8g.115414143A>TCA462658126TRPS1c.3765T>A (p.Pro1255=)
c.3726T>A (p.Pro1242=)
c.2988T>A (p.Pro996=)
c.3738T>A (p.Pro1246=)
c.3744T>A (p.Pro1248=)
8g.115414144G>ACA372062031TRPS1c.3764C>T (p.Pro1255Leu)
c.3725C>T (p.Pro1242Leu)
c.2987C>T (p.Pro996Leu)
c.3737C>T (p.Pro1246Leu)
c.3743C>T (p.Pro1248Leu)
8g.115414144G>CCA372062030TRPS1c.3764C>G (p.Pro1255Arg)
c.3725C>G (p.Pro1242Arg)
c.2987C>G (p.Pro996Arg)
c.3737C>G (p.Pro1246Arg)
c.3743C>G (p.Pro1248Arg)
8g.115414144G>TCA372062029TRPS1c.3764C>A (p.Pro1255His)
c.3725C>A (p.Pro1242His)
c.2987C>A (p.Pro996His)
c.3737C>A (p.Pro1246His)
c.3743C>A (p.Pro1248His)
8g.115414145G>ACA372062032TRPS1c.3763C>T (p.Pro1255Ser)
c.3724C>T (p.Pro1242Ser)
c.2986C>T (p.Pro996Ser)
c.3736C>T (p.Pro1246Ser)
c.3742C>T (p.Pro1248Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.115414145G>CCA372062033TRPS1c.3763C>G (p.Pro1255Ala)
c.3724C>G (p.Pro1242Ala)
c.2986C>G (p.Pro996Ala)
c.3736C>G (p.Pro1246Ala)
c.3742C>G (p.Pro1248Ala)
8g.115414145G=CA1812853669TRPS1c.3763C= (p.Pro1255=)
c.3724C= (p.Pro1242=)
c.2986C= (p.Pro996=)
c.3736C= (p.Pro1246=)
c.3742C= (p.Pro1248=)
8g.115414145G>TCA372062034TRPS1c.3763C>A (p.Pro1255Thr)
c.3724C>A (p.Pro1242Thr)
c.2986C>A (p.Pro996Thr)
c.3736C>A (p.Pro1246Thr)
c.3742C>A (p.Pro1248Thr)
8g.115414146T>ACA462658127TRPS1c.3762A>T (p.Gly1254=)
c.3723A>T (p.Gly1241=)
c.2985A>T (p.Gly995=)
c.3735A>T (p.Gly1245=)
c.3741A>T (p.Gly1247=)
8g.115414146T>CCA462658128TRPS1c.3762A>G (p.Gly1254=)
c.3723A>G (p.Gly1241=)
c.2985A>G (p.Gly995=)
c.3735A>G (p.Gly1245=)
c.3741A>G (p.Gly1247=)
8g.115414146T>GCA462658129TRPS1c.3762A>C (p.Gly1254=)
c.3723A>C (p.Gly1241=)
c.2985A>C (p.Gly995=)
c.3735A>C (p.Gly1245=)
c.3741A>C (p.Gly1247=)
 dbSNP
8g.115414147C>ACA372062035TRPS1c.3761G>T (p.Gly1254Val)
c.3722G>T (p.Gly1241Val)
c.2984G>T (p.Gly995Val)
c.3734G>T (p.Gly1245Val)
c.3740G>T (p.Gly1247Val)
8g.115414147C>GCA372062036TRPS1c.3761G>C (p.Gly1254Ala)
c.3722G>C (p.Gly1241Ala)
c.2984G>C (p.Gly995Ala)
c.3734G>C (p.Gly1245Ala)
c.3740G>C (p.Gly1247Ala)
 gnomAD v4
8g.115414147C>TCA372062037TRPS1c.3761G>A (p.Gly1254Glu)
c.3722G>A (p.Gly1241Glu)
c.2984G>A (p.Gly995Glu)
c.3734G>A (p.Gly1245Glu)
c.3740G>A (p.Gly1247Glu)
 gnomAD v4
8g.115414148C>ACA372062038TRPS1c.3760G>T (p.Gly1254Ter)
c.3721G>T (p.Gly1241Ter)
c.2983G>T (p.Gly995Ter)
c.3733G>T (p.Gly1245Ter)
c.3739G>T (p.Gly1247Ter)
8g.115414148C=CA1812853672TRPS1c.3760G= (p.Gly1254=)
c.3721G= (p.Gly1241=)
c.2983G= (p.Gly995=)
c.3733G= (p.Gly1245=)
c.3739G= (p.Gly1247=)
8g.115414148C>GCA372062039TRPS1c.3760G>C (p.Gly1254Arg)
c.3721G>C (p.Gly1241Arg)
c.2983G>C (p.Gly995Arg)
c.3733G>C (p.Gly1245Arg)
c.3739G>C (p.Gly1247Arg)
8g.115414148C>TCA372062040TRPS1c.3760G>A (p.Gly1254Arg)
c.3721G>A (p.Gly1241Arg)
c.2983G>A (p.Gly995Arg)
c.3733G>A (p.Gly1245Arg)
c.3739G>A (p.Gly1247Arg)
 dbSNP
8g.115414149A>CCA372062041TRPS1c.3759T>G (p.Ser1253Arg)
c.3720T>G (p.Ser1240Arg)
c.2982T>G (p.Ser994Arg)
c.3732T>G (p.Ser1244Arg)
c.3738T>G (p.Ser1246Arg)
8g.115414149A>GCA462658130TRPS1c.3759T>C (p.Ser1253=)
c.3720T>C (p.Ser1240=)
c.2982T>C (p.Ser994=)
c.3732T>C (p.Ser1244=)
c.3738T>C (p.Ser1246=)
8g.115414149A>TCA372062042TRPS1c.3759T>A (p.Ser1253Arg)
c.3720T>A (p.Ser1240Arg)
c.2982T>A (p.Ser994Arg)
c.3732T>A (p.Ser1244Arg)
c.3738T>A (p.Ser1246Arg)
8g.115414150C>ACA372062043TRPS1c.3758G>T (p.Ser1253Ile)
c.3719G>T (p.Ser1240Ile)
c.2981G>T (p.Ser994Ile)
c.3731G>T (p.Ser1244Ile)
c.3737G>T (p.Ser1246Ile)
8g.115414150C=CA1812853674TRPS1c.3758G= (p.Ser1253=)
c.3719G= (p.Ser1240=)
c.2981G= (p.Ser994=)
c.3731G= (p.Ser1244=)
c.3737G= (p.Ser1246=)
8g.115414150C>GCA372062044TRPS1c.3758G>C (p.Ser1253Thr)
c.3719G>C (p.Ser1240Thr)
c.2981G>C (p.Ser994Thr)
c.3731G>C (p.Ser1244Thr)
c.3737G>C (p.Ser1246Thr)
8g.115414150C>TCA4851450TRPS1c.3758G>A (p.Ser1253Asn)
c.3719G>A (p.Ser1240Asn)
c.2981G>A (p.Ser994Asn)
c.3731G>A (p.Ser1244Asn)
c.3737G>A (p.Ser1246Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414151T>ACA372062046TRPS1c.3757A>T (p.Ser1253Cys)
c.3718A>T (p.Ser1240Cys)
c.2980A>T (p.Ser994Cys)
c.3730A>T (p.Ser1244Cys)
c.3736A>T (p.Ser1246Cys)
8g.115414151T>CCA4851451TRPS1c.3757A>G (p.Ser1253Gly)
c.3718A>G (p.Ser1240Gly)
c.2980A>G (p.Ser994Gly)
c.3730A>G (p.Ser1244Gly)
c.3736A>G (p.Ser1246Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414151T>GCA372062045TRPS1c.3757A>C (p.Ser1253Arg)
c.3718A>C (p.Ser1240Arg)
c.2980A>C (p.Ser994Arg)
c.3730A>C (p.Ser1244Arg)
c.3736A>C (p.Ser1246Arg)
8g.115414151T=CA1812853676TRPS1c.3757A= (p.Ser1253=)
c.3718A= (p.Ser1240=)
c.2980A= (p.Ser994=)
c.3730A= (p.Ser1244=)
c.3736A= (p.Ser1246=)
8g.115414152G>ACA462658131TRPS1c.3756C>T (p.Asp1252=)
c.3717C>T (p.Asp1239=)
c.2979C>T (p.Asp993=)
c.3729C>T (p.Asp1243=)
c.3735C>T (p.Asp1245=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115414152G>CCA372062047TRPS1c.3756C>G (p.Asp1252Glu)
c.3717C>G (p.Asp1239Glu)
c.2979C>G (p.Asp993Glu)
c.3729C>G (p.Asp1243Glu)
c.3735C>G (p.Asp1245Glu)
8g.115414152G=CA1812853678TRPS1c.3756C= (p.Asp1252=)
c.3717C= (p.Asp1239=)
c.2979C= (p.Asp993=)
c.3729C= (p.Asp1243=)
c.3735C= (p.Asp1245=)
8g.115414152G>TCA372062048TRPS1c.3756C>A (p.Asp1252Glu)
c.3717C>A (p.Asp1239Glu)
c.2979C>A (p.Asp993Glu)
c.3729C>A (p.Asp1243Glu)
c.3735C>A (p.Asp1245Glu)
8g.115414153T>ACA372062049TRPS1c.3755A>T (p.Asp1252Val)
c.3716A>T (p.Asp1239Val)
c.2978A>T (p.Asp993Val)
c.3728A>T (p.Asp1243Val)
c.3734A>T (p.Asp1245Val)
8g.115414153T>CCA372062050TRPS1c.3755A>G (p.Asp1252Gly)
c.3716A>G (p.Asp1239Gly)
c.2978A>G (p.Asp993Gly)
c.3728A>G (p.Asp1243Gly)
c.3734A>G (p.Asp1245Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.115414153T>GCA372062051TRPS1c.3755A>C (p.Asp1252Ala)
c.3716A>C (p.Asp1239Ala)
c.2978A>C (p.Asp993Ala)
c.3728A>C (p.Asp1243Ala)
c.3734A>C (p.Asp1245Ala)
8g.115414153T=CA1812853681TRPS1c.3755A= (p.Asp1252=)
c.3716A= (p.Asp1239=)
c.2978A= (p.Asp993=)
c.3728A= (p.Asp1243=)
c.3734A= (p.Asp1245=)
8g.115414154C>ACA372062052TRPS1c.3754G>T (p.Asp1252Tyr)
c.3715G>T (p.Asp1239Tyr)
c.2977G>T (p.Asp993Tyr)
c.3727G>T (p.Asp1243Tyr)
c.3733G>T (p.Asp1245Tyr)
8g.115414154C>GCA372062053TRPS1c.3754G>C (p.Asp1252His)
c.3715G>C (p.Asp1239His)
c.2977G>C (p.Asp993His)
c.3727G>C (p.Asp1243His)
c.3733G>C (p.Asp1245His)
8g.115414154C>TCA372062054TRPS1c.3754G>A (p.Asp1252Asn)
c.3715G>A (p.Asp1239Asn)
c.2977G>A (p.Asp993Asn)
c.3727G>A (p.Asp1243Asn)
c.3733G>A (p.Asp1245Asn)
8g.115414155A>CCA462658133TRPS1c.3753T>G (p.Gly1251=)
c.3714T>G (p.Gly1238=)
c.2976T>G (p.Gly992=)
c.3726T>G (p.Gly1242=)
c.3732T>G (p.Gly1244=)
8g.115414155A>GCA462658134TRPS1c.3753T>C (p.Gly1251=)
c.3714T>C (p.Gly1238=)
c.2976T>C (p.Gly992=)
c.3726T>C (p.Gly1242=)
c.3732T>C (p.Gly1244=)
8g.115414155A>TCA462658132TRPS1c.3753T>A (p.Gly1251=)
c.3714T>A (p.Gly1238=)
c.2976T>A (p.Gly992=)
c.3726T>A (p.Gly1242=)
c.3732T>A (p.Gly1244=)
8g.115414156C>ACA372062055TRPS1c.3752G>T (p.Gly1251Val)
c.3713G>T (p.Gly1238Val)
c.2975G>T (p.Gly992Val)
c.3725G>T (p.Gly1242Val)
c.3731G>T (p.Gly1244Val)
8g.115414156C>GCA372062056TRPS1c.3752G>C (p.Gly1251Ala)
c.3713G>C (p.Gly1238Ala)
c.2975G>C (p.Gly992Ala)
c.3725G>C (p.Gly1242Ala)
c.3731G>C (p.Gly1244Ala)
8g.115414156C>TCA372062057TRPS1c.3752G>A (p.Gly1251Asp)
c.3713G>A (p.Gly1238Asp)
c.2975G>A (p.Gly992Asp)
c.3725G>A (p.Gly1242Asp)
c.3731G>A (p.Gly1244Asp)
8g.115414157C>ACA372062058TRPS1c.3751G>T (p.Gly1251Cys)
c.3712G>T (p.Gly1238Cys)
c.2974G>T (p.Gly992Cys)
c.3724G>T (p.Gly1242Cys)
c.3730G>T (p.Gly1244Cys)
8g.115414157C=CA1812853686TRPS1c.3751G= (p.Gly1251=)
c.3712G= (p.Gly1238=)
c.2974G= (p.Gly992=)
c.3724G= (p.Gly1242=)
c.3730G= (p.Gly1244=)
8g.115414157C>GCA372062059TRPS1c.3751G>C (p.Gly1251Arg)
c.3712G>C (p.Gly1238Arg)
c.2974G>C (p.Gly992Arg)
c.3724G>C (p.Gly1242Arg)
c.3730G>C (p.Gly1244Arg)
8g.115414157C>TCA372062060TRPS1c.3751G>A (p.Gly1251Ser)
c.3712G>A (p.Gly1238Ser)
c.2974G>A (p.Gly992Ser)
c.3724G>A (p.Gly1242Ser)
c.3730G>A (p.Gly1244Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.115414158A=CA1812853690TRPS1c.3750T= (p.His1250=)
c.3711T= (p.His1237=)
c.2973T= (p.His991=)
c.3723T= (p.His1241=)
c.3729T= (p.His1243=)
8g.115414158A>CCA372062061TRPS1c.3750T>G (p.His1250Gln)
c.3711T>G (p.His1237Gln)
c.2973T>G (p.His991Gln)
c.3723T>G (p.His1241Gln)
c.3729T>G (p.His1243Gln)
8g.115414158A>GCA462658135TRPS1c.3750T>C (p.His1250=)
c.3711T>C (p.His1237=)
c.2973T>C (p.His991=)
c.3723T>C (p.His1241=)
c.3729T>C (p.His1243=)
 dbSNP gnomAD v2 gnomAD v4
8g.115414158A>TCA372062062TRPS1c.3750T>A (p.His1250Gln)
c.3711T>A (p.His1237Gln)
c.2973T>A (p.His991Gln)
c.3723T>A (p.His1241Gln)
c.3729T>A (p.His1243Gln)
8g.115414159T>ACA372062063TRPS1c.3749A>T (p.His1250Leu)
c.3710A>T (p.His1237Leu)
c.2972A>T (p.His991Leu)
c.3722A>T (p.His1241Leu)
c.3728A>T (p.His1243Leu)
8g.115414159T>CCA372062064TRPS1c.3749A>G (p.His1250Arg)
c.3710A>G (p.His1237Arg)
c.2972A>G (p.His991Arg)
c.3722A>G (p.His1241Arg)
c.3728A>G (p.His1243Arg)
 ClinVar
8g.115414159T>GCA372062065TRPS1c.3749A>C (p.His1250Pro)
c.3710A>C (p.His1237Pro)
c.2972A>C (p.His991Pro)
c.3722A>C (p.His1241Pro)
c.3728A>C (p.His1243Pro)
 ClinVar dbSNP
8g.115414160G>ACA372062066TRPS1c.3748C>T (p.His1250Tyr)
c.3709C>T (p.His1237Tyr)
c.2971C>T (p.His991Tyr)
c.3721C>T (p.His1241Tyr)
c.3727C>T (p.His1243Tyr)
8g.115414160G>CCA372062067TRPS1c.3748C>G (p.His1250Asp)
c.3709C>G (p.His1237Asp)
c.2971C>G (p.His991Asp)
c.3721C>G (p.His1241Asp)
c.3727C>G (p.His1243Asp)
8g.115414160G>TCA372062068TRPS1c.3748C>A (p.His1250Asn)
c.3709C>A (p.His1237Asn)
c.2971C>A (p.His991Asn)
c.3721C>A (p.His1241Asn)
c.3727C>A (p.His1243Asn)
8g.115414161G>ACA462658136TRPS1c.3747C>T (p.Cys1249=)
c.3708C>T (p.Cys1236=)
c.2970C>T (p.Cys990=)
c.3720C>T (p.Cys1240=)
c.3726C>T (p.Cys1242=)
8g.115414161G>CCA372062069TRPS1c.3747C>G (p.Cys1249Trp)
c.3708C>G (p.Cys1236Trp)
c.2970C>G (p.Cys990Trp)
c.3720C>G (p.Cys1240Trp)
c.3726C>G (p.Cys1242Trp)
8g.115414161G>TCA372062070TRPS1c.3747C>A (p.Cys1249Ter)
c.3708C>A (p.Cys1236Ter)
c.2970C>A (p.Cys990Ter)
c.3720C>A (p.Cys1240Ter)
c.3726C>A (p.Cys1242Ter)
8g.115414162C>ACA372062071TRPS1c.3746G>T (p.Cys1249Phe)
c.3707G>T (p.Cys1236Phe)
c.2969G>T (p.Cys990Phe)
c.3719G>T (p.Cys1240Phe)
c.3725G>T (p.Cys1242Phe)
8g.115414162C>GCA372062072TRPS1c.3746G>C (p.Cys1249Ser)
c.3707G>C (p.Cys1236Ser)
c.2969G>C (p.Cys990Ser)
c.3719G>C (p.Cys1240Ser)
c.3725G>C (p.Cys1242Ser)
8g.115414162C>TCA372062073TRPS1c.3746G>A (p.Cys1249Tyr)
c.3707G>A (p.Cys1236Tyr)
c.2969G>A (p.Cys990Tyr)
c.3719G>A (p.Cys1240Tyr)
c.3725G>A (p.Cys1242Tyr)
8g.115414163A=CA1812853693TRPS1c.3745T= (p.Cys1249=)
c.3706T= (p.Cys1236=)
c.2968T= (p.Cys990=)
c.3718T= (p.Cys1240=)
c.3724T= (p.Cys1242=)
8g.115414163A>CCA372062074TRPS1c.3745T>G (p.Cys1249Gly)
c.3706T>G (p.Cys1236Gly)
c.2968T>G (p.Cys990Gly)
c.3718T>G (p.Cys1240Gly)
c.3724T>G (p.Cys1242Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.115414163A>GCA372062076TRPS1c.3745T>C (p.Cys1249Arg)
c.3706T>C (p.Cys1236Arg)
c.2968T>C (p.Cys990Arg)
c.3718T>C (p.Cys1240Arg)
c.3724T>C (p.Cys1242Arg)
8g.115414163A>TCA372062075TRPS1c.3745T>A (p.Cys1249Ser)
c.3706T>A (p.Cys1236Ser)
c.2968T>A (p.Cys990Ser)
c.3718T>A (p.Cys1240Ser)
c.3724T>A (p.Cys1242Ser)
8g.115414164A>CCA372062077TRPS1c.3744T>G (p.Ser1248Arg)
c.3705T>G (p.Ser1235Arg)
c.2967T>G (p.Ser989Arg)
c.3717T>G (p.Ser1239Arg)
c.3723T>G (p.Ser1241Arg)
8g.115414164A>GCA462658137TRPS1c.3744T>C (p.Ser1248=)
c.3705T>C (p.Ser1235=)
c.2967T>C (p.Ser989=)
c.3717T>C (p.Ser1239=)
c.3723T>C (p.Ser1241=)
8g.115414164A>TCA372062078TRPS1c.3744T>A (p.Ser1248Arg)
c.3705T>A (p.Ser1235Arg)
c.2967T>A (p.Ser989Arg)
c.3717T>A (p.Ser1239Arg)
c.3723T>A (p.Ser1241Arg)
8g.115414165C>ACA372062079TRPS1c.3743G>T (p.Ser1248Ile)
c.3704G>T (p.Ser1235Ile)
c.2966G>T (p.Ser989Ile)
c.3716G>T (p.Ser1239Ile)
c.3722G>T (p.Ser1241Ile)
8g.115414165C>GCA372062080TRPS1c.3743G>C (p.Ser1248Thr)
c.3704G>C (p.Ser1235Thr)
c.2966G>C (p.Ser989Thr)
c.3716G>C (p.Ser1239Thr)
c.3722G>C (p.Ser1241Thr)
8g.115414165C>TCA372062081TRPS1c.3743G>A (p.Ser1248Asn)
c.3704G>A (p.Ser1235Asn)
c.2966G>A (p.Ser989Asn)
c.3716G>A (p.Ser1239Asn)
c.3722G>A (p.Ser1241Asn)
8g.115414166T>ACA372062082TRPS1c.3742A>T (p.Ser1248Cys)
c.3703A>T (p.Ser1235Cys)
c.2965A>T (p.Ser989Cys)
c.3715A>T (p.Ser1239Cys)
c.3721A>T (p.Ser1241Cys)
8g.115414166T>CCA372062083TRPS1c.3742A>G (p.Ser1248Gly)
c.3703A>G (p.Ser1235Gly)
c.2965A>G (p.Ser989Gly)
c.3715A>G (p.Ser1239Gly)
c.3721A>G (p.Ser1241Gly)
8g.115414166T>GCA372062084TRPS1c.3742A>C (p.Ser1248Arg)
c.3703A>C (p.Ser1235Arg)
c.2965A>C (p.Ser989Arg)
c.3715A>C (p.Ser1239Arg)
c.3721A>C (p.Ser1241Arg)
8g.115414167C>ACA372062085TRPS1c.3741G>T (p.Met1247Ile)
c.3702G>T (p.Met1234Ile)
c.2964G>T (p.Met988Ile)
c.3714G>T (p.Met1238Ile)
c.3720G>T (p.Met1240Ile)
8g.115414167C>GCA372062086TRPS1c.3741G>C (p.Met1247Ile)
c.3702G>C (p.Met1234Ile)
c.2964G>C (p.Met988Ile)
c.3714G>C (p.Met1238Ile)
c.3720G>C (p.Met1240Ile)
 gnomAD v4
8g.115414167C>TCA372062087TRPS1c.3741G>A (p.Met1247Ile)
c.3702G>A (p.Met1234Ile)
c.2964G>A (p.Met988Ile)
c.3714G>A (p.Met1238Ile)
c.3720G>A (p.Met1240Ile)
8g.115414168A=CA1812853696TRPS1c.3740T= (p.Met1247=)
c.3701T= (p.Met1234=)
c.2963T= (p.Met988=)
c.3713T= (p.Met1238=)
c.3719T= (p.Met1240=)
8g.115414168A>CCA372062088TRPS1c.3740T>G (p.Met1247Arg)
c.3701T>G (p.Met1234Arg)
c.2963T>G (p.Met988Arg)
c.3713T>G (p.Met1238Arg)
c.3719T>G (p.Met1240Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.115414168A>GCA372062089TRPS1c.3740T>C (p.Met1247Thr)
c.3701T>C (p.Met1234Thr)
c.2963T>C (p.Met988Thr)
c.3713T>C (p.Met1238Thr)
c.3719T>C (p.Met1240Thr)
8g.115414168A>TCA372062090TRPS1c.3740T>A (p.Met1247Lys)
c.3701T>A (p.Met1234Lys)
c.2963T>A (p.Met988Lys)
c.3713T>A (p.Met1238Lys)
c.3719T>A (p.Met1240Lys)
8g.115414169T>ACA372062091TRPS1c.3739A>T (p.Met1247Leu)
c.3700A>T (p.Met1234Leu)
c.2962A>T (p.Met988Leu)
c.3712A>T (p.Met1238Leu)
c.3718A>T (p.Met1240Leu)
8g.115414169T>CCA372062093TRPS1c.3739A>G (p.Met1247Val)
c.3700A>G (p.Met1234Val)
c.2962A>G (p.Met988Val)
c.3712A>G (p.Met1238Val)
c.3718A>G (p.Met1240Val)
8g.115414169T>GCA372062092TRPS1c.3739A>C (p.Met1247Leu)
c.3700A>C (p.Met1234Leu)
c.2962A>C (p.Met988Leu)
c.3712A>C (p.Met1238Leu)
c.3718A>C (p.Met1240Leu)
8g.115414170A>CCA372062094TRPS1c.3738T>G (p.His1246Gln)
c.3699T>G (p.His1233Gln)
c.2961T>G (p.His987Gln)
c.3711T>G (p.His1237Gln)
c.3717T>G (p.His1239Gln)
8g.115414170A>GCA462658138TRPS1c.3738T>C (p.His1246=)
c.3699T>C (p.His1233=)
c.2961T>C (p.His987=)
c.3711T>C (p.His1237=)
c.3717T>C (p.His1239=)
8g.115414170A>TCA372062095TRPS1c.3738T>A (p.His1246Gln)
c.3699T>A (p.His1233Gln)
c.2961T>A (p.His987Gln)
c.3711T>A (p.His1237Gln)
c.3717T>A (p.His1239Gln)
8g.115414171T>ACA372062096TRPS1c.3737A>T (p.His1246Leu)
c.3698A>T (p.His1233Leu)
c.2960A>T (p.His987Leu)
c.3710A>T (p.His1237Leu)
c.3716A>T (p.His1239Leu)
 ClinVar
8g.115414171T>CCA372062097TRPS1c.3737A>G (p.His1246Arg)
c.3698A>G (p.His1233Arg)
c.2960A>G (p.His987Arg)
c.3710A>G (p.His1237Arg)
c.3716A>G (p.His1239Arg)
8g.115414171T>GCA372062098TRPS1c.3737A>C (p.His1246Pro)
c.3698A>C (p.His1233Pro)
c.2960A>C (p.His987Pro)
c.3710A>C (p.His1237Pro)
c.3716A>C (p.His1239Pro)
8g.115414172G>ACA372062099TRPS1c.3736C>T (p.His1246Tyr)
c.3697C>T (p.His1233Tyr)
c.2959C>T (p.His987Tyr)
c.3709C>T (p.His1237Tyr)
c.3715C>T (p.His1239Tyr)
 ClinVar dbSNP
8g.115414172G>CCA372062100TRPS1c.3736C>G (p.His1246Asp)
c.3697C>G (p.His1233Asp)
c.2959C>G (p.His987Asp)
c.3709C>G (p.His1237Asp)
c.3715C>G (p.His1239Asp)
8g.115414172G=CA1812853698TRPS1c.3736C= (p.His1246=)
c.3697C= (p.His1233=)
c.2959C= (p.His987=)
c.3709C= (p.His1237=)
c.3715C= (p.His1239=)
8g.115414172G>TCA372062101TRPS1c.3736C>A (p.His1246Asn)
c.3697C>A (p.His1233Asn)
c.2959C>A (p.His987Asn)
c.3709C>A (p.His1237Asn)
c.3715C>A (p.His1239Asn)
8g.115414173C>ACA372062102TRPS1c.3735G>T (p.Leu1245Phe)
c.3696G>T (p.Leu1232Phe)
c.2958G>T (p.Leu986Phe)
c.3708G>T (p.Leu1236Phe)
c.3714G>T (p.Leu1238Phe)
8g.115414173C=CA1812853699TRPS1c.3735G= (p.Leu1245=)
c.3696G= (p.Leu1232=)
c.2958G= (p.Leu986=)
c.3708G= (p.Leu1236=)
c.3714G= (p.Leu1238=)
8g.115414173C>GCA372062103TRPS1c.3735G>C (p.Leu1245Phe)
c.3696G>C (p.Leu1232Phe)
c.2958G>C (p.Leu986Phe)
c.3708G>C (p.Leu1236Phe)
c.3714G>C (p.Leu1238Phe)
8g.115414173C>TCA462658139TRPS1c.3735G>A (p.Leu1245=)
c.3696G>A (p.Leu1232=)
c.2958G>A (p.Leu986=)
c.3708G>A (p.Leu1236=)
c.3714G>A (p.Leu1238=)
 dbSNP gnomAD v4
8g.115414174A>CCA372062105TRPS1c.3734T>G (p.Leu1245Trp)
c.3695T>G (p.Leu1232Trp)
c.2957T>G (p.Leu986Trp)
c.3707T>G (p.Leu1236Trp)
c.3713T>G (p.Leu1238Trp)
8g.115414174A>GCA372062106TRPS1c.3734T>C (p.Leu1245Ser)
c.3695T>C (p.Leu1232Ser)
c.2957T>C (p.Leu986Ser)
c.3707T>C (p.Leu1236Ser)
c.3713T>C (p.Leu1238Ser)
8g.115414174A>TCA372062104TRPS1c.3734T>A (p.Leu1245Ter)
c.3695T>A (p.Leu1232Ter)
c.2957T>A (p.Leu986Ter)
c.3707T>A (p.Leu1236Ter)
c.3713T>A (p.Leu1238Ter)
8g.115414175A>CCA372062107TRPS1c.3733T>G (p.Leu1245Val)
c.3694T>G (p.Leu1232Val)
c.2956T>G (p.Leu986Val)
c.3706T>G (p.Leu1236Val)
c.3712T>G (p.Leu1238Val)
8g.115414175A>GCA462658140TRPS1c.3733T>C (p.Leu1245=)
c.3694T>C (p.Leu1232=)
c.2956T>C (p.Leu986=)
c.3706T>C (p.Leu1236=)
c.3712T>C (p.Leu1238=)
8g.115414175A>TCA372062108TRPS1c.3733T>A (p.Leu1245Met)
c.3694T>A (p.Leu1232Met)
c.2956T>A (p.Leu986Met)
c.3706T>A (p.Leu1236Met)
c.3712T>A (p.Leu1238Met)
8g.115414176A>CCA462658141TRPS1c.3732T>G (p.Ala1244=)
c.3693T>G (p.Ala1231=)
c.2955T>G (p.Ala985=)
c.3705T>G (p.Ala1235=)
c.3711T>G (p.Ala1237=)
8g.115414176A>GCA462658142TRPS1c.3732T>C (p.Ala1244=)
c.3693T>C (p.Ala1231=)
c.2955T>C (p.Ala985=)
c.3705T>C (p.Ala1235=)
c.3711T>C (p.Ala1237=)
 COSMIC COSMIC
8g.115414176A>TCA462658143TRPS1c.3732T>A (p.Ala1244=)
c.3693T>A (p.Ala1231=)
c.2955T>A (p.Ala985=)
c.3705T>A (p.Ala1235=)
c.3711T>A (p.Ala1237=)
8g.115414177G>ACA372062109TRPS1c.3731C>T (p.Ala1244Val)
c.3692C>T (p.Ala1231Val)
c.2954C>T (p.Ala985Val)
c.3704C>T (p.Ala1235Val)
c.3710C>T (p.Ala1237Val)
8g.115414177G>CCA372062110TRPS1c.3731C>G (p.Ala1244Gly)
c.3692C>G (p.Ala1231Gly)
c.2954C>G (p.Ala985Gly)
c.3704C>G (p.Ala1235Gly)
c.3710C>G (p.Ala1237Gly)
8g.115414177G>TCA372062111TRPS1c.3731C>A (p.Ala1244Asp)
c.3692C>A (p.Ala1231Asp)
c.2954C>A (p.Ala985Asp)
c.3704C>A (p.Ala1235Asp)
c.3710C>A (p.Ala1237Asp)
8g.115414178C>ACA372062114TRPS1c.3730G>T (p.Ala1244Ser)
c.3691G>T (p.Ala1231Ser)
c.2953G>T (p.Ala985Ser)
c.3703G>T (p.Ala1235Ser)
c.3709G>T (p.Ala1237Ser)
8g.115414178C>GCA372062112TRPS1c.3730G>C (p.Ala1244Pro)
c.3691G>C (p.Ala1231Pro)
c.2953G>C (p.Ala985Pro)
c.3703G>C (p.Ala1235Pro)
c.3709G>C (p.Ala1237Pro)
8g.115414178C>TCA372062113TRPS1c.3730G>A (p.Ala1244Thr)
c.3691G>A (p.Ala1231Thr)
c.2953G>A (p.Ala985Thr)
c.3703G>A (p.Ala1235Thr)
c.3709G>A (p.Ala1237Thr)
 gnomAD v4
8g.115414179A>CCA372062115TRPS1c.3729T>G (p.Tyr1243Ter)
c.3690T>G (p.Tyr1230Ter)
c.2952T>G (p.Tyr984Ter)
c.3702T>G (p.Tyr1234Ter)
c.3708T>G (p.Tyr1236Ter)
8g.115414179A>GCA462658144TRPS1c.3729T>C (p.Tyr1243=)
c.3690T>C (p.Tyr1230=)
c.2952T>C (p.Tyr984=)
c.3702T>C (p.Tyr1234=)
c.3708T>C (p.Tyr1236=)
8g.115414179A>TCA372062116TRPS1c.3729T>A (p.Tyr1243Ter)
c.3690T>A (p.Tyr1230Ter)
c.2952T>A (p.Tyr984Ter)
c.3702T>A (p.Tyr1234Ter)
c.3708T>A (p.Tyr1236Ter)
8g.115414180T>ACA372062117TRPS1c.3728A>T (p.Tyr1243Phe)
c.3689A>T (p.Tyr1230Phe)
c.2951A>T (p.Tyr984Phe)
c.3701A>T (p.Tyr1234Phe)
c.3707A>T (p.Tyr1236Phe)
 dbSNP gnomAD v4
8g.115414180T>CCA372062118TRPS1c.3728A>G (p.Tyr1243Cys)
c.3689A>G (p.Tyr1230Cys)
c.2951A>G (p.Tyr984Cys)
c.3701A>G (p.Tyr1234Cys)
c.3707A>G (p.Tyr1236Cys)
 dbSNP gnomAD v4
8g.115414180T>GCA372062119TRPS1c.3728A>C (p.Tyr1243Ser)
c.3689A>C (p.Tyr1230Ser)
c.2951A>C (p.Tyr984Ser)
c.3701A>C (p.Tyr1234Ser)
c.3707A>C (p.Tyr1236Ser)
8g.115414180T=CA1812853700TRPS1c.3728A= (p.Tyr1243=)
c.3689A= (p.Tyr1230=)
c.2951A= (p.Tyr984=)
c.3701A= (p.Tyr1234=)
c.3707A= (p.Tyr1236=)
8g.115414181A>CCA372062120TRPS1c.3727T>G (p.Tyr1243Asp)
c.3688T>G (p.Tyr1230Asp)
c.2950T>G (p.Tyr984Asp)
c.3700T>G (p.Tyr1234Asp)
c.3706T>G (p.Tyr1236Asp)
8g.115414181A>GCA372062122TRPS1c.3727T>C (p.Tyr1243His)
c.3688T>C (p.Tyr1230His)
c.2950T>C (p.Tyr984His)
c.3700T>C (p.Tyr1234His)
c.3706T>C (p.Tyr1236His)
 gnomAD v4
8g.115414181A>TCA372062121TRPS1c.3727T>A (p.Tyr1243Asn)
c.3688T>A (p.Tyr1230Asn)
c.2950T>A (p.Tyr984Asn)
c.3700T>A (p.Tyr1234Asn)
c.3706T>A (p.Tyr1236Asn)
8g.115414182C>ACA372062123TRPS1c.3726G>T (p.Met1242Ile)
c.3687G>T (p.Met1229Ile)
c.2949G>T (p.Met983Ile)
c.3699G>T (p.Met1233Ile)
c.3705G>T (p.Met1235Ile)
8g.115414182C>GCA372062124TRPS1c.3726G>C (p.Met1242Ile)
c.3687G>C (p.Met1229Ile)
c.2949G>C (p.Met983Ile)
c.3699G>C (p.Met1233Ile)
c.3705G>C (p.Met1235Ile)
8g.115414182C>TCA372062125TRPS1c.3726G>A (p.Met1242Ile)
c.3687G>A (p.Met1229Ile)
c.2949G>A (p.Met983Ile)
c.3699G>A (p.Met1233Ile)
c.3705G>A (p.Met1235Ile)
8g.115414183A>CCA372062126TRPS1c.3725T>G (p.Met1242Arg)
c.3686T>G (p.Met1229Arg)
c.2948T>G (p.Met983Arg)
c.3698T>G (p.Met1233Arg)
c.3704T>G (p.Met1235Arg)
8g.115414183A>GCA372062127TRPS1c.3725T>C (p.Met1242Thr)
c.3686T>C (p.Met1229Thr)
c.2948T>C (p.Met983Thr)
c.3698T>C (p.Met1233Thr)
c.3704T>C (p.Met1235Thr)
8g.115414183A>TCA372062128TRPS1c.3725T>A (p.Met1242Lys)
c.3686T>A (p.Met1229Lys)
c.2948T>A (p.Met983Lys)
c.3698T>A (p.Met1233Lys)
c.3704T>A (p.Met1235Lys)
8g.115414183dupCA2740095130TRPS1c.3725dup (p.Met1242IlefsTer11)
c.3686dup (p.Met1229IlefsTer11)
c.2948dup (p.Met983IlefsTer11)
c.3698dup (p.Met1233IlefsTer11)
c.3704dup (p.Met1235IlefsTer11)
 ClinVar
8g.115414184T>ACA4851453TRPS1c.3724A>T (p.Met1242Leu)
c.3685A>T (p.Met1229Leu)
c.2947A>T (p.Met983Leu)
c.3697A>T (p.Met1233Leu)
c.3703A>T (p.Met1235Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414184T>CCA372062129TRPS1c.3724A>G (p.Met1242Val)
c.3685A>G (p.Met1229Val)
c.2947A>G (p.Met983Val)
c.3697A>G (p.Met1233Val)
c.3703A>G (p.Met1235Val)
8g.115414184T>GCA4851452TRPS1c.3724A>C (p.Met1242Leu)
c.3685A>C (p.Met1229Leu)
c.2947A>C (p.Met983Leu)
c.3697A>C (p.Met1233Leu)
c.3703A>C (p.Met1235Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414184T=CA1812853701TRPS1c.3724A= (p.Met1242=)
c.3685A= (p.Met1229=)
c.2947A= (p.Met983=)
c.3697A= (p.Met1233=)
c.3703A= (p.Met1235=)
8g.115414185C>ACA462658145TRPS1c.3723G>T (p.Val1241=)
c.3684G>T (p.Val1228=)
c.2946G>T (p.Val982=)
c.3696G>T (p.Val1232=)
c.3702G>T (p.Val1234=)
8g.115414185C>GCA462658146TRPS1c.3723G>C (p.Val1241=)
c.3684G>C (p.Val1228=)
c.2946G>C (p.Val982=)
c.3696G>C (p.Val1232=)
c.3702G>C (p.Val1234=)
 gnomAD v4
8g.115414185C>TCA462658147TRPS1c.3723G>A (p.Val1241=)
c.3684G>A (p.Val1228=)
c.2946G>A (p.Val982=)
c.3696G>A (p.Val1232=)
c.3702G>A (p.Val1234=)
 gnomAD v4
8g.115414186A>CCA372062130TRPS1c.3722T>G (p.Val1241Gly)
c.3683T>G (p.Val1228Gly)
c.2945T>G (p.Val982Gly)
c.3695T>G (p.Val1232Gly)
c.3701T>G (p.Val1234Gly)
8g.115414186A>GCA372062131TRPS1c.3722T>C (p.Val1241Ala)
c.3683T>C (p.Val1228Ala)
c.2945T>C (p.Val982Ala)
c.3695T>C (p.Val1232Ala)
c.3701T>C (p.Val1234Ala)
8g.115414186A>TCA372062132TRPS1c.3722T>A (p.Val1241Glu)
c.3683T>A (p.Val1228Glu)
c.2945T>A (p.Val982Glu)
c.3695T>A (p.Val1232Glu)
c.3701T>A (p.Val1234Glu)
8g.115414187C>ACA372062134TRPS1c.3721G>T (p.Val1241Leu)
c.3682G>T (p.Val1228Leu)
c.2944G>T (p.Val982Leu)
c.3694G>T (p.Val1232Leu)
c.3700G>T (p.Val1234Leu)
8g.115414187C=CA1812853702TRPS1c.3721G= (p.Val1241=)
c.3682G= (p.Val1228=)
c.2944G= (p.Val982=)
c.3694G= (p.Val1232=)
c.3700G= (p.Val1234=)
8g.115414187C>GCA372062133TRPS1c.3721G>C (p.Val1241Leu)
c.3682G>C (p.Val1228Leu)
c.2944G>C (p.Val982Leu)
c.3694G>C (p.Val1232Leu)
c.3700G>C (p.Val1234Leu)
8g.115414187C>TCA184469271TRPS1c.3721G>A (p.Val1241Met)
c.3682G>A (p.Val1228Met)
c.2944G>A (p.Val982Met)
c.3694G>A (p.Val1232Met)
c.3700G>A (p.Val1234Met)
 dbSNP
8g.115414188T>ACA372062136TRPS1c.3720A>T (p.Glu1240Asp)
c.3681A>T (p.Glu1227Asp)
c.2943A>T (p.Glu981Asp)
c.3693A>T (p.Glu1231Asp)
c.3699A>T (p.Glu1233Asp)
8g.115414188T>CCA462658148TRPS1c.3720A>G (p.Glu1240=)
c.3681A>G (p.Glu1227=)
c.2943A>G (p.Glu981=)
c.3693A>G (p.Glu1231=)
c.3699A>G (p.Glu1233=)
 gnomAD v4
8g.115414188T>GCA372062135TRPS1c.3720A>C (p.Glu1240Asp)
c.3681A>C (p.Glu1227Asp)
c.2943A>C (p.Glu981Asp)
c.3693A>C (p.Glu1231Asp)
c.3699A>C (p.Glu1233Asp)
8g.115414189T>ACA372062139TRPS1c.3719A>T (p.Glu1240Val)
c.3680A>T (p.Glu1227Val)
c.2942A>T (p.Glu981Val)
c.3692A>T (p.Glu1231Val)
c.3698A>T (p.Glu1233Val)
8g.115414189T>CCA372062137TRPS1c.3719A>G (p.Glu1240Gly)
c.3680A>G (p.Glu1227Gly)
c.2942A>G (p.Glu981Gly)
c.3692A>G (p.Glu1231Gly)
c.3698A>G (p.Glu1233Gly)
8g.115414189T>GCA372062138TRPS1c.3719A>C (p.Glu1240Ala)
c.3680A>C (p.Glu1227Ala)
c.2942A>C (p.Glu981Ala)
c.3692A>C (p.Glu1231Ala)
c.3698A>C (p.Glu1233Ala)
8g.115414190C>ACA372062140TRPS1c.3718G>T (p.Glu1240Ter)
c.3679G>T (p.Glu1227Ter)
c.2941G>T (p.Glu981Ter)
c.3691G>T (p.Glu1231Ter)
c.3697G>T (p.Glu1233Ter)
8g.115414190C>GCA372062141TRPS1c.3718G>C (p.Glu1240Gln)
c.3679G>C (p.Glu1227Gln)
c.2941G>C (p.Glu981Gln)
c.3691G>C (p.Glu1231Gln)
c.3697G>C (p.Glu1233Gln)
8g.115414190C>TCA372062142TRPS1c.3718G>A (p.Glu1240Lys)
c.3679G>A (p.Glu1227Lys)
c.2941G>A (p.Glu981Lys)
c.3691G>A (p.Glu1231Lys)
c.3697G>A (p.Glu1233Lys)
8g.115414191A=CA1812853703TRPS1c.3717T= (p.Asp1239=)
c.3678T= (p.Asp1226=)
c.2940T= (p.Asp980=)
c.3690T= (p.Asp1230=)
c.3696T= (p.Asp1232=)
8g.115414191A>CCA372062143TRPS1c.3717T>G (p.Asp1239Glu)
c.3678T>G (p.Asp1226Glu)
c.2940T>G (p.Asp980Glu)
c.3690T>G (p.Asp1230Glu)
c.3696T>G (p.Asp1232Glu)
8g.115414191A>GCA462658149TRPS1c.3717T>C (p.Asp1239=)
c.3678T>C (p.Asp1226=)
c.2940T>C (p.Asp980=)
c.3690T>C (p.Asp1230=)
c.3696T>C (p.Asp1232=)
 dbSNP gnomAD v2 gnomAD v4
8g.115414191A>TCA184469277TRPS1c.3717T>A (p.Asp1239Glu)
c.3678T>A (p.Asp1226Glu)
c.2940T>A (p.Asp980Glu)
c.3690T>A (p.Asp1230Glu)
c.3696T>A (p.Asp1232Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.115414192T>ACA372062144TRPS1c.3716A>T (p.Asp1239Val)
c.3677A>T (p.Asp1226Val)
c.2939A>T (p.Asp980Val)
c.3689A>T (p.Asp1230Val)
c.3695A>T (p.Asp1232Val)
8g.115414192T>CCA372062146TRPS1c.3716A>G (p.Asp1239Gly)
c.3677A>G (p.Asp1226Gly)
c.2939A>G (p.Asp980Gly)
c.3689A>G (p.Asp1230Gly)
c.3695A>G (p.Asp1232Gly)
 ClinVar dbSNP
8g.115414192T>GCA372062145TRPS1c.3716A>C (p.Asp1239Ala)
c.3677A>C (p.Asp1226Ala)
c.2939A>C (p.Asp980Ala)
c.3689A>C (p.Asp1230Ala)
c.3695A>C (p.Asp1232Ala)
8g.115414193C>ACA372062147TRPS1c.3715G>T (p.Asp1239Tyr)
c.3676G>T (p.Asp1226Tyr)
c.2938G>T (p.Asp980Tyr)
c.3688G>T (p.Asp1230Tyr)
c.3694G>T (p.Asp1232Tyr)
8g.115414193C>GCA372062148TRPS1c.3715G>C (p.Asp1239His)
c.3676G>C (p.Asp1226His)
c.2938G>C (p.Asp980His)
c.3688G>C (p.Asp1230His)
c.3694G>C (p.Asp1232His)
8g.115414193C>TCA372062149TRPS1c.3715G>A (p.Asp1239Asn)
c.3676G>A (p.Asp1226Asn)
c.2938G>A (p.Asp980Asn)
c.3688G>A (p.Asp1230Asn)
c.3694G>A (p.Asp1232Asn)
8g.115414194C>ACA462658150TRPS1c.3714G>T (p.Leu1238=)
c.3675G>T (p.Leu1225=)
c.2937G>T (p.Leu979=)
c.3687G>T (p.Leu1229=)
c.3693G>T (p.Leu1231=)
8g.115414194C=CA1812853704TRPS1c.3714G= (p.Leu1238=)
c.3675G= (p.Leu1225=)
c.2937G= (p.Leu979=)
c.3687G= (p.Leu1229=)
c.3693G= (p.Leu1231=)
8g.115414194C>GCA462658151TRPS1c.3714G>C (p.Leu1238=)
c.3675G>C (p.Leu1225=)
c.2937G>C (p.Leu979=)
c.3687G>C (p.Leu1229=)
c.3693G>C (p.Leu1231=)
8g.115414194C>TCA4851454TRPS1c.3714G>A (p.Leu1238=)
c.3675G>A (p.Leu1225=)
c.2937G>A (p.Leu979=)
c.3687G>A (p.Leu1229=)
c.3693G>A (p.Leu1231=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414195A>CCA372062152TRPS1c.3713T>G (p.Leu1238Arg)
c.3674T>G (p.Leu1225Arg)
c.2936T>G (p.Leu979Arg)
c.3686T>G (p.Leu1229Arg)
c.3692T>G (p.Leu1231Arg)
8g.115414195A>GCA372062150TRPS1c.3713T>C (p.Leu1238Pro)
c.3674T>C (p.Leu1225Pro)
c.2936T>C (p.Leu979Pro)
c.3686T>C (p.Leu1229Pro)
c.3692T>C (p.Leu1231Pro)
8g.115414195A>TCA372062151TRPS1c.3713T>A (p.Leu1238Gln)
c.3674T>A (p.Leu1225Gln)
c.2936T>A (p.Leu979Gln)
c.3686T>A (p.Leu1229Gln)
c.3692T>A (p.Leu1231Gln)
8g.115414196G>ACA462658152TRPS1c.3712C>T (p.Leu1238=)
c.3673C>T (p.Leu1225=)
c.2935C>T (p.Leu979=)
c.3685C>T (p.Leu1229=)
c.3691C>T (p.Leu1231=)
 dbSNP
8g.115414196G>CCA372062153TRPS1c.3712C>G (p.Leu1238Val)
c.3673C>G (p.Leu1225Val)
c.2935C>G (p.Leu979Val)
c.3685C>G (p.Leu1229Val)
c.3691C>G (p.Leu1231Val)
8g.115414196G=CA1812853705TRPS1c.3712C= (p.Leu1238=)
c.3673C= (p.Leu1225=)
c.2935C= (p.Leu979=)
c.3685C= (p.Leu1229=)
c.3691C= (p.Leu1231=)
8g.115414196G>TCA372062154TRPS1c.3712C>A (p.Leu1238Met)
c.3673C>A (p.Leu1225Met)
c.2935C>A (p.Leu979Met)
c.3685C>A (p.Leu1229Met)
c.3691C>A (p.Leu1231Met)
8g.115414197A>CCA372062155TRPS1c.3711T>G (p.Phe1237Leu)
c.3672T>G (p.Phe1224Leu)
c.2934T>G (p.Phe978Leu)
c.3684T>G (p.Phe1228Leu)
c.3690T>G (p.Phe1230Leu)
8g.115414197A>GCA462658153TRPS1c.3711T>C (p.Phe1237=)
c.3672T>C (p.Phe1224=)
c.2934T>C (p.Phe978=)
c.3684T>C (p.Phe1228=)
c.3690T>C (p.Phe1230=)
8g.115414197A>TCA372062156TRPS1c.3711T>A (p.Phe1237Leu)
c.3672T>A (p.Phe1224Leu)
c.2934T>A (p.Phe978Leu)
c.3684T>A (p.Phe1228Leu)
c.3690T>A (p.Phe1230Leu)
8g.115414198A>CCA372062157TRPS1c.3710T>G (p.Phe1237Cys)
c.3671T>G (p.Phe1224Cys)
c.2933T>G (p.Phe978Cys)
c.3683T>G (p.Phe1228Cys)
c.3689T>G (p.Phe1230Cys)
8g.115414198A>GCA372062158TRPS1c.3710T>C (p.Phe1237Ser)
c.3671T>C (p.Phe1224Ser)
c.2933T>C (p.Phe978Ser)
c.3683T>C (p.Phe1228Ser)
c.3689T>C (p.Phe1230Ser)
8g.115414198A>TCA372062159TRPS1c.3710T>A (p.Phe1237Tyr)
c.3671T>A (p.Phe1224Tyr)
c.2933T>A (p.Phe978Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3689T>A (p.Phe1230Tyr)
8g.115414199A>CCA372062160TRPS1c.3709T>G (p.Phe1237Val)
c.3670T>G (p.Phe1224Val)
c.2932T>G (p.Phe978Val)
c.3682T>G (p.Phe1228Val)
c.3688T>G (p.Phe1230Val)
8g.115414199A>GCA372062161TRPS1c.3709T>C (p.Phe1237Leu)
c.3670T>C (p.Phe1224Leu)
c.2932T>C (p.Phe978Leu)
c.3682T>C (p.Phe1228Leu)
c.3688T>C (p.Phe1230Leu)
8g.115414199A>TCA372062162TRPS1c.3709T>A (p.Phe1237Ile)
c.3670T>A (p.Phe1224Ile)
c.2932T>A (p.Phe978Ile)
c.3682T>A (p.Phe1228Ile)
c.3688T>A (p.Phe1230Ile)
8g.115414200G>ACA462658154TRPS1c.3708C>T (p.Val1236=)
c.3669C>T (p.Val1223=)
c.2931C>T (p.Val977=)
c.3681C>T (p.Val1227=)
c.3687C>T (p.Val1229=)
 COSMIC COSMIC
8g.115414200G>CCA462658156TRPS1c.3708C>G (p.Val1236=)
c.3669C>G (p.Val1223=)
c.2931C>G (p.Val977=)
c.3681C>G (p.Val1227=)
c.3687C>G (p.Val1229=)
8g.115414200G>TCA462658155TRPS1c.3708C>A (p.Val1236=)
c.3669C>A (p.Val1223=)
c.2931C>A (p.Val977=)
c.3681C>A (p.Val1227=)
c.3687C>A (p.Val1229=)
 gnomAD v4
8g.115414201A=CA1812853706TRPS1c.3707T= (p.Val1236=)
c.3668T= (p.Val1223=)
c.2930T= (p.Val977=)
c.3680T= (p.Val1227=)
c.3686T= (p.Val1229=)
8g.115414201A>CCA372062163TRPS1c.3707T>G (p.Val1236Gly)
c.3668T>G (p.Val1223Gly)
c.2930T>G (p.Val977Gly)
c.3680T>G (p.Val1227Gly)
c.3686T>G (p.Val1229Gly)
8g.115414201A>GCA372062164TRPS1c.3707T>C (p.Val1236Ala)
c.3668T>C (p.Val1223Ala)
c.2930T>C (p.Val977Ala)
c.3680T>C (p.Val1227Ala)
c.3686T>C (p.Val1229Ala)
 dbSNP gnomAD v4
8g.115414201A>TCA372062165TRPS1c.3707T>A (p.Val1236Asp)
c.3668T>A (p.Val1223Asp)
c.2930T>A (p.Val977Asp)
c.3680T>A (p.Val1227Asp)
c.3686T>A (p.Val1229Asp)
8g.115414202C>ACA372062166TRPS1c.3706G>T (p.Val1236Phe)
c.3667G>T (p.Val1223Phe)
c.2929G>T (p.Val977Phe)
c.3679G>T (p.Val1227Phe)
c.3685G>T (p.Val1229Phe)
8g.115414202C>GCA372062168TRPS1c.3706G>C (p.Val1236Leu)
c.3667G>C (p.Val1223Leu)
c.2929G>C (p.Val977Leu)
c.3679G>C (p.Val1227Leu)
c.3685G>C (p.Val1229Leu)
8g.115414202C>TCA372062167TRPS1c.3706G>A (p.Val1236Ile)
c.3667G>A (p.Val1223Ile)
c.2929G>A (p.Val977Ile)
c.3679G>A (p.Val1227Ile)
c.3685G>A (p.Val1229Ile)
8g.115414203A>CCA372062169TRPS1c.3705T>G (p.Ile1235Met)
c.3666T>G (p.Ile1222Met)
c.2928T>G (p.Ile976Met)
c.3678T>G (p.Ile1226Met)
c.3684T>G (p.Ile1228Met)
8g.115414203A>GCA462658157TRPS1c.3705T>C (p.Ile1235=)
c.3666T>C (p.Ile1222=)
c.2928T>C (p.Ile976=)
c.3678T>C (p.Ile1226=)
c.3684T>C (p.Ile1228=)
8g.115414203A>TCA462658158TRPS1c.3705T>A (p.Ile1235=)
c.3666T>A (p.Ile1222=)
c.2928T>A (p.Ile976=)
c.3678T>A (p.Ile1226=)
c.3684T>A (p.Ile1228=)
8g.115414204A>CCA372062170TRPS1c.3704T>G (p.Ile1235Ser)
c.3665T>G (p.Ile1222Ser)
c.2927T>G (p.Ile976Ser)
c.3677T>G (p.Ile1226Ser)
c.3683T>G (p.Ile1228Ser)
8g.115414204A>GCA372062171TRPS1c.3704T>C (p.Ile1235Thr)
c.3665T>C (p.Ile1222Thr)
c.2927T>C (p.Ile976Thr)
c.3677T>C (p.Ile1226Thr)
c.3683T>C (p.Ile1228Thr)
8g.115414204A>TCA372062172TRPS1c.3704T>A (p.Ile1235Asn)
c.3665T>A (p.Ile1222Asn)
c.2927T>A (p.Ile976Asn)
c.3677T>A (p.Ile1226Asn)
c.3683T>A (p.Ile1228Asn)
8g.115414205T>ACA372062173TRPS1c.3703A>T (p.Ile1235Phe)
c.3664A>T (p.Ile1222Phe)
c.2926A>T (p.Ile976Phe)
c.3676A>T (p.Ile1226Phe)
c.3682A>T (p.Ile1228Phe)
8g.115414205T>CCA4851455TRPS1c.3703A>G (p.Ile1235Val)
c.3664A>G (p.Ile1222Val)
c.2926A>G (p.Ile976Val)
c.3676A>G (p.Ile1226Val)
c.3682A>G (p.Ile1228Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414205T>GCA372062174TRPS1c.3703A>C (p.Ile1235Leu)
c.3664A>C (p.Ile1222Leu)
c.2926A>C (p.Ile976Leu)
c.3676A>C (p.Ile1226Leu)
c.3682A>C (p.Ile1228Leu)
8g.115414205T=CA1812853707TRPS1c.3703A= (p.Ile1235=)
c.3664A= (p.Ile1222=)
c.2926A= (p.Ile976=)
c.3676A= (p.Ile1226=)
c.3682A= (p.Ile1228=)
8g.115414206G>ACA462658165TRPS1c.3702C>T (p.Gly1234=)
c.3663C>T (p.Gly1221=)
c.2925C>T (p.Gly975=)
c.3675C>T (p.Gly1225=)
c.3681C>T (p.Gly1227=)
8g.115414206G>CCA462658166TRPS1c.3702C>G (p.Gly1234=)
c.3663C>G (p.Gly1221=)
c.2925C>G (p.Gly975=)
c.3675C>G (p.Gly1225=)
c.3681C>G (p.Gly1227=)
8g.115414206G>TCA462658167TRPS1c.3702C>A (p.Gly1234=)
c.3663C>A (p.Gly1221=)
c.2925C>A (p.Gly975=)
c.3675C>A (p.Gly1225=)
c.3681C>A (p.Gly1227=)
8g.115414207C>ACA372062175TRPS1c.3701G>T (p.Gly1234Val)
c.3662G>T (p.Gly1221Val)
c.2924G>T (p.Gly975Val)
c.3674G>T (p.Gly1225Val)
c.3680G>T (p.Gly1227Val)
8g.115414207C>GCA372062176TRPS1c.3701G>C (p.Gly1234Ala)
c.3662G>C (p.Gly1221Ala)
c.2924G>C (p.Gly975Ala)
c.3674G>C (p.Gly1225Ala)
c.3680G>C (p.Gly1227Ala)
8g.115414207C>TCA372062177TRPS1c.3701G>A (p.Gly1234Asp)
c.3662G>A (p.Gly1221Asp)
c.2924G>A (p.Gly975Asp)
c.3674G>A (p.Gly1225Asp)
c.3680G>A (p.Gly1227Asp)
 ClinVar dbSNP COSMIC COSMIC
8g.115414208C>ACA372062178TRPS1c.3700G>T (p.Gly1234Cys)
c.3661G>T (p.Gly1221Cys)
c.2923G>T (p.Gly975Cys)
c.3673G>T (p.Gly1225Cys)
c.3679G>T (p.Gly1227Cys)
8g.115414208C>GCA372062179TRPS1c.3700G>C (p.Gly1234Arg)
c.3661G>C (p.Gly1221Arg)
c.2923G>C (p.Gly975Arg)
c.3673G>C (p.Gly1225Arg)
c.3679G>C (p.Gly1227Arg)
8g.115414208C>TCA372062180TRPS1c.3700G>A (p.Gly1234Ser)
c.3661G>A (p.Gly1221Ser)
c.2923G>A (p.Gly975Ser)
c.3673G>A (p.Gly1225Ser)
c.3679G>A (p.Gly1227Ser)
8g.115414209A>CCA372062181TRPS1c.3699T>G (p.Cys1233Trp)
c.3660T>G (p.Cys1220Trp)
c.2922T>G (p.Cys974Trp)
c.3672T>G (p.Cys1224Trp)
c.3678T>G (p.Cys1226Trp)
8g.115414209A>GCA462658173TRPS1c.3699T>C (p.Cys1233=)
c.3660T>C (p.Cys1220=)
c.2922T>C (p.Cys974=)
c.3672T>C (p.Cys1224=)
c.3678T>C (p.Cys1226=)
 gnomAD v4
8g.115414209A>TCA372062182TRPS1c.3699T>A (p.Cys1233Ter)
c.3660T>A (p.Cys1220Ter)
c.2922T>A (p.Cys974Ter)
c.3672T>A (p.Cys1224Ter)
c.3678T>A (p.Cys1226Ter)
8g.115414210C>ACA372062183TRPS1c.3698G>T (p.Cys1233Phe)
c.3659G>T (p.Cys1220Phe)
c.2921G>T (p.Cys974Phe)
c.3671G>T (p.Cys1224Phe)
c.3677G>T (p.Cys1226Phe)
8g.115414210C=CA1812853708TRPS1c.3698G= (p.Cys1233=)
c.3659G= (p.Cys1220=)
c.2921G= (p.Cys974=)
c.3671G= (p.Cys1224=)
c.3677G= (p.Cys1226=)
8g.115414210C>GCA372062184TRPS1c.3698G>C (p.Cys1233Ser)
c.3659G>C (p.Cys1220Ser)
c.2921G>C (p.Cys974Ser)
c.3671G>C (p.Cys1224Ser)
c.3677G>C (p.Cys1226Ser)
8g.115414210C>TCA372062185TRPS1c.3698G>A (p.Cys1233Tyr)
c.3659G>A (p.Cys1220Tyr)
c.2921G>A (p.Cys974Tyr)
c.3671G>A (p.Cys1224Tyr)
c.3677G>A (p.Cys1226Tyr)
 ClinVar dbSNP
8g.115414211A>CCA372062186TRPS1c.3697T>G (p.Cys1233Gly)
c.3658T>G (p.Cys1220Gly)
c.2920T>G (p.Cys974Gly)
c.3670T>G (p.Cys1224Gly)
c.3676T>G (p.Cys1226Gly)
8g.115414211A>GCA372062187TRPS1c.3697T>C (p.Cys1233Arg)
c.3658T>C (p.Cys1220Arg)
c.2920T>C (p.Cys974Arg)
c.3670T>C (p.Cys1224Arg)
c.3676T>C (p.Cys1226Arg)
8g.115414211A>TCA372062188TRPS1c.3697T>A (p.Cys1233Ser)
c.3658T>A (p.Cys1220Ser)
c.2920T>A (p.Cys974Ser)
c.3670T>A (p.Cys1224Ser)
c.3676T>A (p.Cys1226Ser)
8g.115414212G>ACA462658179TRPS1c.3696C>T (p.His1232=)
c.3657C>T (p.His1219=)
c.2919C>T (p.His973=)
c.3669C>T (p.His1223=)
c.3675C>T (p.His1225=)
8g.115414212G>CCA372062189TRPS1c.3696C>G (p.His1232Gln)
c.3657C>G (p.His1219Gln)
c.2919C>G (p.His973Gln)
c.3669C>G (p.His1223Gln)
c.3675C>G (p.His1225Gln)
8g.115414212G>TCA372062190TRPS1c.3696C>A (p.His1232Gln)
c.3657C>A (p.His1219Gln)
c.2919C>A (p.His973Gln)
c.3669C>A (p.His1223Gln)
c.3675C>A (p.His1225Gln)
8g.115414213T>ACA372062191TRPS1c.3695A>T (p.His1232Leu)
c.3656A>T (p.His1219Leu)
c.2918A>T (p.His973Leu)
c.3668A>T (p.His1223Leu)
c.3674A>T (p.His1225Leu)
8g.115414213T>CCA372062192TRPS1c.3695A>G (p.His1232Arg)
c.3656A>G (p.His1219Arg)
c.2918A>G (p.His973Arg)
c.3668A>G (p.His1223Arg)
c.3674A>G (p.His1225Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.115414213T>GCA372062193TRPS1c.3695A>C (p.His1232Pro)
c.3656A>C (p.His1219Pro)
c.2918A>C (p.His973Pro)
c.3668A>C (p.His1223Pro)
c.3674A>C (p.His1225Pro)
 gnomAD v4
8g.115414213T=CA1812853709TRPS1c.3695A= (p.His1232=)
c.3656A= (p.His1219=)
c.2918A= (p.His973=)
c.3668A= (p.His1223=)
c.3674A= (p.His1225=)
8g.115414214G>ACA372062196TRPS1c.3694C>T (p.His1232Tyr)
c.3655C>T (p.His1219Tyr)
c.2917C>T (p.His973Tyr)
c.3667C>T (p.His1223Tyr)
c.3673C>T (p.His1225Tyr)
 gnomAD v4
8g.115414214G>CCA372062195TRPS1c.3694C>G (p.His1232Asp)
c.3655C>G (p.His1219Asp)
c.2917C>G (p.His973Asp)
c.3667C>G (p.His1223Asp)
c.3673C>G (p.His1225Asp)
8g.115414214G>TCA372062194TRPS1c.3694C>A (p.His1232Asn)
c.3655C>A (p.His1219Asn)
c.2917C>A (p.His973Asn)
c.3667C>A (p.His1223Asn)
c.3673C>A (p.His1225Asn)
8g.115414215C>ACA462658180TRPS1c.3693G>T (p.Val1231=)
c.3654G>T (p.Val1218=)
c.2916G>T (p.Val972=)
c.3666G>T (p.Val1222=)
c.3672G>T (p.Val1224=)
 dbSNP
8g.115414215C=CA1812853710TRPS1c.3693G= (p.Val1231=)
c.3654G= (p.Val1218=)
c.2916G= (p.Val972=)
c.3666G= (p.Val1222=)
c.3672G= (p.Val1224=)
8g.115414215C>GCA462658181TRPS1c.3693G>C (p.Val1231=)
c.3654G>C (p.Val1218=)
c.2916G>C (p.Val972=)
c.3666G>C (p.Val1222=)
c.3672G>C (p.Val1224=)
8g.115414215C>TCA462658183TRPS1c.3693G>A (p.Val1231=)
c.3654G>A (p.Val1218=)
c.2916G>A (p.Val972=)
c.3666G>A (p.Val1222=)
c.3672G>A (p.Val1224=)
8g.115414216A=CA1812853711TRPS1c.3692T= (p.Val1231=)
c.3653T= (p.Val1218=)
c.2915T= (p.Val972=)
c.3665T= (p.Val1222=)
c.3671T= (p.Val1224=)
8g.115414216A>CCA372062197TRPS1c.3692T>G (p.Val1231Gly)
c.3653T>G (p.Val1218Gly)
c.2915T>G (p.Val972Gly)
c.3665T>G (p.Val1222Gly)
c.3671T>G (p.Val1224Gly)
8g.115414216A>GCA372062199TRPS1c.3692T>C (p.Val1231Ala)
c.3653T>C (p.Val1218Ala)
c.2915T>C (p.Val972Ala)
c.3665T>C (p.Val1222Ala)
c.3671T>C (p.Val1224Ala)
 dbSNP
8g.115414216A>TCA372062198TRPS1c.3692T>A (p.Val1231Glu)
c.3653T>A (p.Val1218Glu)
c.2915T>A (p.Val972Glu)
c.3665T>A (p.Val1222Glu)
c.3671T>A (p.Val1224Glu)
8g.115414217C>ACA372062200TRPS1c.3691G>T (p.Val1231Leu)
c.3652G>T (p.Val1218Leu)
c.2914G>T (p.Val972Leu)
c.3664G>T (p.Val1222Leu)
c.3670G>T (p.Val1224Leu)
8g.115414217C=CA1812853712TRPS1c.3691G= (p.Val1231=)
c.3652G= (p.Val1218=)
c.2914G= (p.Val972=)
c.3664G= (p.Val1222=)
c.3670G= (p.Val1224=)
8g.115414217C>GCA372062201TRPS1c.3691G>C (p.Val1231Leu)
c.3652G>C (p.Val1218Leu)
c.2914G>C (p.Val972Leu)
c.3664G>C (p.Val1222Leu)
c.3670G>C (p.Val1224Leu)
8g.115414217C>TCA372062202TRPS1c.3691G>A (p.Val1231Met)
c.3652G>A (p.Val1218Met)
c.2914G>A (p.Val972Met)
c.3664G>A (p.Val1222Met)
c.3670G>A (p.Val1224Met)
 dbSNP
8g.115414217_115414218insGGACAAATCA1812853713TRPS1c.3690_3691insATTTGTCC (p.Val1231IlefsTer14)
c.3651_3652insATTTGTCC (p.Val1218IlefsTer14)
c.2913_2914insATTTGTCC (p.Val972IlefsTer14)
c.3663_3664insATTTGTCC (p.Val1222IlefsTer14)
c.3669_3670insATTTGTCC (p.Val1224IlefsTer14)
 dbSNP
8g.115414218A>CCA372062203TRPS1c.3690T>G (p.Cys1230Trp)
c.3651T>G (p.Cys1217Trp)
c.2913T>G (p.Cys971Trp)
c.3663T>G (p.Cys1221Trp)
c.3669T>G (p.Cys1223Trp)
8g.115414218A>GCA462658185TRPS1c.3690T>C (p.Cys1230=)
c.3651T>C (p.Cys1217=)
c.2913T>C (p.Cys971=)
c.3663T>C (p.Cys1221=)
c.3669T>C (p.Cys1223=)
8g.115414218A>TCA372062204TRPS1c.3690T>A (p.Cys1230Ter)
c.3651T>A (p.Cys1217Ter)
c.2913T>A (p.Cys971Ter)
c.3663T>A (p.Cys1221Ter)
c.3669T>A (p.Cys1223Ter)
8g.115414219C>ACA372062205TRPS1c.3689G>T (p.Cys1230Phe)
c.3650G>T (p.Cys1217Phe)
c.2912G>T (p.Cys971Phe)
c.3662G>T (p.Cys1221Phe)
c.3668G>T (p.Cys1223Phe)
8g.115414219C>GCA372062206TRPS1c.3689G>C (p.Cys1230Ser)
c.3650G>C (p.Cys1217Ser)
c.2912G>C (p.Cys971Ser)
c.3662G>C (p.Cys1221Ser)
c.3668G>C (p.Cys1223Ser)
8g.115414219C>TCA372062207TRPS1c.3689G>A (p.Cys1230Tyr)
c.3650G>A (p.Cys1217Tyr)
c.2912G>A (p.Cys971Tyr)
c.3662G>A (p.Cys1221Tyr)
c.3668G>A (p.Cys1223Tyr)
8g.115414220A>CCA372062208TRPS1c.3688T>G (p.Cys1230Gly)
c.3649T>G (p.Cys1217Gly)
c.2911T>G (p.Cys971Gly)
c.3661T>G (p.Cys1221Gly)
c.3667T>G (p.Cys1223Gly)
8g.115414220A>GCA372062209TRPS1c.3688T>C (p.Cys1230Arg)
c.3649T>C (p.Cys1217Arg)
c.2911T>C (p.Cys971Arg)
c.3661T>C (p.Cys1221Arg)
c.3667T>C (p.Cys1223Arg)
8g.115414220A>TCA372062210TRPS1c.3688T>A (p.Cys1230Ser)
c.3649T>A (p.Cys1217Ser)
c.2911T>A (p.Cys971Ser)
c.3661T>A (p.Cys1221Ser)
c.3667T>A (p.Cys1223Ser)
8g.115414221T>ACA372062212TRPS1c.3687A>T (p.Lys1229Asn)
c.3648A>T (p.Lys1216Asn)
c.2910A>T (p.Lys970Asn)
c.3660A>T (p.Lys1220Asn)
c.3666A>T (p.Lys1222Asn)
8g.115414221T>CCA462658189TRPS1c.3687A>G (p.Lys1229=)
c.3648A>G (p.Lys1216=)
c.2910A>G (p.Lys970=)
c.3660A>G (p.Lys1220=)
c.3666A>G (p.Lys1222=)
8g.115414221T>GCA372062211TRPS1c.3687A>C (p.Lys1229Asn)
c.3648A>C (p.Lys1216Asn)
c.2910A>C (p.Lys970Asn)
c.3660A>C (p.Lys1220Asn)
c.3666A>C (p.Lys1222Asn)
8g.115414222T>ACA372062213TRPS1c.3686A>T (p.Lys1229Ile)
c.3647A>T (p.Lys1216Ile)
c.2909A>T (p.Lys970Ile)
c.3659A>T (p.Lys1220Ile)
c.3665A>T (p.Lys1222Ile)
8g.115414222T>CCA372062214TRPS1c.3686A>G (p.Lys1229Arg)
c.3647A>G (p.Lys1216Arg)
c.2909A>G (p.Lys970Arg)
c.3659A>G (p.Lys1220Arg)
c.3665A>G (p.Lys1222Arg)
8g.115414222T>GCA372062215TRPS1c.3686A>C (p.Lys1229Thr)
c.3647A>C (p.Lys1216Thr)
c.2909A>C (p.Lys970Thr)
c.3659A>C (p.Lys1220Thr)
c.3665A>C (p.Lys1222Thr)
8g.115414223T>ACA372062216TRPS1c.3685A>T (p.Lys1229Ter)
c.3646A>T (p.Lys1216Ter)
c.2908A>T (p.Lys970Ter)
c.3658A>T (p.Lys1220Ter)
c.3664A>T (p.Lys1222Ter)
8g.115414223T>CCA372062217TRPS1c.3685A>G (p.Lys1229Glu)
c.3646A>G (p.Lys1216Glu)
c.2908A>G (p.Lys970Glu)
c.3658A>G (p.Lys1220Glu)
c.3664A>G (p.Lys1222Glu)
8g.115414223T>GCA372062218TRPS1c.3685A>C (p.Lys1229Gln)
c.3646A>C (p.Lys1216Gln)
c.2908A>C (p.Lys970Gln)
c.3658A>C (p.Lys1220Gln)
c.3664A>C (p.Lys1222Gln)
8g.115414224T>ACA462658192TRPS1c.3684A>T (p.Thr1228=)
c.3645A>T (p.Thr1215=)
c.2907A>T (p.Thr969=)
c.3657A>T (p.Thr1219=)
c.3663A>T (p.Thr1221=)
8g.115414224T>CCA462658193TRPS1c.3684A>G (p.Thr1228=)
c.3645A>G (p.Thr1215=)
c.2907A>G (p.Thr969=)
c.3657A>G (p.Thr1219=)
c.3663A>G (p.Thr1221=)
 COSMIC COSMIC
8g.115414224T>GCA462658194TRPS1c.3684A>C (p.Thr1228=)
c.3645A>C (p.Thr1215=)
c.2907A>C (p.Thr969=)
c.3657A>C (p.Thr1219=)
c.3663A>C (p.Thr1221=)
8g.115414225G>ACA372062219TRPS1c.3683C>T (p.Thr1228Ile)
c.3644C>T (p.Thr1215Ile)
c.2906C>T (p.Thr969Ile)
c.3656C>T (p.Thr1219Ile)
c.3662C>T (p.Thr1221Ile)
8g.115414225G>CCA372062220TRPS1c.3683C>G (p.Thr1228Arg)
c.3644C>G (p.Thr1215Arg)
c.2906C>G (p.Thr969Arg)
c.3656C>G (p.Thr1219Arg)
c.3662C>G (p.Thr1221Arg)
8g.115414225G>TCA372062221TRPS1c.3683C>A (p.Thr1228Lys)
c.3644C>A (p.Thr1215Lys)
c.2906C>A (p.Thr969Lys)
c.3656C>A (p.Thr1219Lys)
c.3662C>A (p.Thr1221Lys)
8g.115414226T>ACA372062222TRPS1c.3682A>T (p.Thr1228Ser)
c.3643A>T (p.Thr1215Ser)
c.2905A>T (p.Thr969Ser)
c.3655A>T (p.Thr1219Ser)
c.3661A>T (p.Thr1221Ser)
8g.115414226T>CCA372062223TRPS1c.3682A>G (p.Thr1228Ala)
c.3643A>G (p.Thr1215Ala)
c.2905A>G (p.Thr969Ala)
c.3655A>G (p.Thr1219Ala)
c.3661A>G (p.Thr1221Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115414226T>GCA372062224TRPS1c.3682A>C (p.Thr1228Pro)
c.3643A>C (p.Thr1215Pro)
c.2905A>C (p.Thr969Pro)
c.3655A>C (p.Thr1219Pro)
c.3661A>C (p.Thr1221Pro)
8g.115414226T=CA1812853714TRPS1c.3682A= (p.Thr1228=)
c.3643A= (p.Thr1215=)
c.2905A= (p.Thr969=)
c.3655A= (p.Thr1219=)
c.3661A= (p.Thr1221=)
8g.115414227T>ACA462658199TRPS1c.3681A>T (p.Ser1227=)
c.3642A>T (p.Ser1214=)
c.2904A>T (p.Ser968=)
c.3654A>T (p.Ser1218=)
c.3660A>T (p.Ser1220=)
8g.115414227T>CCA462658200TRPS1c.3681A>G (p.Ser1227=)
c.3642A>G (p.Ser1214=)
c.2904A>G (p.Ser968=)
c.3654A>G (p.Ser1218=)
c.3660A>G (p.Ser1220=)
 dbSNP gnomAD v2 gnomAD v4
8g.115414227T>GCA462658201TRPS1c.3681A>C (p.Ser1227=)
c.3642A>C (p.Ser1214=)
c.2904A>C (p.Ser968=)
c.3654A>C (p.Ser1218=)
c.3660A>C (p.Ser1220=)
8g.115414227T=CA1812853715TRPS1c.3681A= (p.Ser1227=)
c.3642A= (p.Ser1214=)
c.2904A= (p.Ser968=)
c.3654A= (p.Ser1218=)
c.3660A= (p.Ser1220=)
8g.115414228G>ACA372062226TRPS1c.3680C>T (p.Ser1227Leu)
c.3641C>T (p.Ser1214Leu)
c.2903C>T (p.Ser968Leu)
c.3653C>T (p.Ser1218Leu)
c.3659C>T (p.Ser1220Leu)
8g.115414228G>CCA372062227TRPS1c.3680C>G (p.Ser1227Ter)
c.3641C>G (p.Ser1214Ter)
c.2903C>G (p.Ser968Ter)
c.3653C>G (p.Ser1218Ter)
c.3659C>G (p.Ser1220Ter)
8g.115414228G>TCA372062225TRPS1c.3680C>A (p.Ser1227Ter)
c.3641C>A (p.Ser1214Ter)
c.2903C>A (p.Ser968Ter)
c.3653C>A (p.Ser1218Ter)
c.3659C>A (p.Ser1220Ter)
8g.115414229A>CCA372062228TRPS1c.3679T>G (p.Ser1227Ala)
c.3640T>G (p.Ser1214Ala)
c.2902T>G (p.Ser968Ala)
c.3652T>G (p.Ser1218Ala)
c.3658T>G (p.Ser1220Ala)
8g.115414229A>GCA372062229TRPS1c.3679T>C (p.Ser1227Pro)
c.3640T>C (p.Ser1214Pro)
c.2902T>C (p.Ser968Pro)
c.3652T>C (p.Ser1218Pro)
c.3658T>C (p.Ser1220Pro)
8g.115414229A>TCA372062230TRPS1c.3679T>A (p.Ser1227Thr)
c.3640T>A (p.Ser1214Thr)
c.2902T>A (p.Ser968Thr)
c.3652T>A (p.Ser1218Thr)
c.3658T>A (p.Ser1220Thr)
8g.115414230A>CCA462658205TRPS1c.3678T>G (p.Leu1226=)
c.3639T>G (p.Leu1213=)
c.2901T>G (p.Leu967=)
c.3651T>G (p.Leu1217=)
c.3657T>G (p.Leu1219=)
8g.115414230A>GCA462658208TRPS1c.3678T>C (p.Leu1226=)
c.3639T>C (p.Leu1213=)
c.2901T>C (p.Leu967=)
c.3651T>C (p.Leu1217=)
c.3657T>C (p.Leu1219=)
8g.115414230A>TCA462658206TRPS1c.3678T>A (p.Leu1226=)
c.3639T>A (p.Leu1213=)
c.2901T>A (p.Leu967=)
c.3651T>A (p.Leu1217=)
c.3657T>A (p.Leu1219=)
8g.115414231A>CCA372062231TRPS1c.3677T>G (p.Leu1226Arg)
c.3638T>G (p.Leu1213Arg)
c.2900T>G (p.Leu967Arg)
c.3650T>G (p.Leu1217Arg)
c.3656T>G (p.Leu1219Arg)
 COSMIC COSMIC
8g.115414231A>GCA372062232TRPS1c.3677T>C (p.Leu1226Pro)
c.3638T>C (p.Leu1213Pro)
c.2900T>C (p.Leu967Pro)
c.3650T>C (p.Leu1217Pro)
c.3656T>C (p.Leu1219Pro)
8g.115414231A>TCA372062233TRPS1c.3677T>A (p.Leu1226His)
c.3638T>A (p.Leu1213His)
c.2900T>A (p.Leu967His)
c.3650T>A (p.Leu1217His)
c.3656T>A (p.Leu1219His)
8g.115414232G>ACA372062234TRPS1c.3676C>T (p.Leu1226Phe)
c.3637C>T (p.Leu1213Phe)
c.2899C>T (p.Leu967Phe)
c.3649C>T (p.Leu1217Phe)
c.3655C>T (p.Leu1219Phe)
 gnomAD v4
8g.115414232G>CCA372062235TRPS1c.3676C>G (p.Leu1226Val)
c.3637C>G (p.Leu1213Val)
c.2899C>G (p.Leu967Val)
c.3649C>G (p.Leu1217Val)
c.3655C>G (p.Leu1219Val)
8g.115414232G>TCA372062236TRPS1c.3676C>A (p.Leu1226Ile)
c.3637C>A (p.Leu1213Ile)
c.2899C>A (p.Leu967Ile)
c.3649C>A (p.Leu1217Ile)
c.3655C>A (p.Leu1219Ile)
8g.115414233T>ACA372062237TRPS1c.3675A>T (p.Glu1225Asp)
c.3636A>T (p.Glu1212Asp)
c.2898A>T (p.Glu966Asp)
c.3648A>T (p.Glu1216Asp)
c.3654A>T (p.Glu1218Asp)
8g.115414233T>CCA4851456TRPS1c.3675A>G (p.Glu1225=)
c.3636A>G (p.Glu1212=)
c.2898A>G (p.Glu966=)
c.3648A>G (p.Glu1216=)
c.3654A>G (p.Glu1218=)
 dbSNP ExAC gnomAD v2
8g.115414233T>GCA372062238TRPS1c.3675A>C (p.Glu1225Asp)
c.3636A>C (p.Glu1212Asp)
c.2898A>C (p.Glu966Asp)
c.3648A>C (p.Glu1216Asp)
c.3654A>C (p.Glu1218Asp)
8g.115414233T=CA1812853716TRPS1c.3675A= (p.Glu1225=)
c.3636A= (p.Glu1212=)
c.2898A= (p.Glu966=)
c.3648A= (p.Glu1216=)
c.3654A= (p.Glu1218=)
8g.115414234T>ACA372062240TRPS1c.3674A>T (p.Glu1225Val)
c.3635A>T (p.Glu1212Val)
c.2897A>T (p.Glu966Val)
c.3647A>T (p.Glu1216Val)
c.3653A>T (p.Glu1218Val)
8g.115414234T>CCA372062241TRPS1c.3674A>G (p.Glu1225Gly)
c.3635A>G (p.Glu1212Gly)
c.2897A>G (p.Glu966Gly)
c.3647A>G (p.Glu1216Gly)
c.3653A>G (p.Glu1218Gly)
8g.115414234T>GCA372062239TRPS1c.3674A>C (p.Glu1225Ala)
c.3635A>C (p.Glu1212Ala)
c.2897A>C (p.Glu966Ala)
c.3647A>C (p.Glu1216Ala)
c.3653A>C (p.Glu1218Ala)

Number of alleles fetched