Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115587052A>CCA372064683TRPS1c.2649T>G (p.Tyr883Ter)
c.2610T>G (p.Tyr870Ter)
c.2022T>G (p.Tyr674Ter)
c.1872T>G (p.Tyr624Ter)
c.2622T>G (p.Tyr874Ter)
c.2628T>G (p.Tyr876Ter)
8g.115587052A>GCA462658562TRPS1c.2649T>C (p.Tyr883=)
c.2610T>C (p.Tyr870=)
c.2022T>C (p.Tyr674=)
c.1872T>C (p.Tyr624=)
c.2622T>C (p.Tyr874=)
c.2628T>C (p.Tyr876=)
 gnomAD v4
8g.115587052A>TCA372064684TRPS1c.2649T>A (p.Tyr883Ter)
c.2610T>A (p.Tyr870Ter)
c.2022T>A (p.Tyr674Ter)
c.1872T>A (p.Tyr624Ter)
c.2622T>A (p.Tyr874Ter)
c.2628T>A (p.Tyr876Ter)
8g.115587053T>ACA372064685TRPS1c.2648A>T (p.Tyr883Phe)
c.2609A>T (p.Tyr870Phe)
c.2021A>T (p.Tyr674Phe)
c.1871A>T (p.Tyr624Phe)
c.2621A>T (p.Tyr874Phe)
c.2627A>T (p.Tyr876Phe)
8g.115587053T>CCA372064686TRPS1c.2648A>G (p.Tyr883Cys)
c.2609A>G (p.Tyr870Cys)
c.2021A>G (p.Tyr674Cys)
c.1871A>G (p.Tyr624Cys)
c.2621A>G (p.Tyr874Cys)
c.2627A>G (p.Tyr876Cys)
 gnomAD v4
8g.115587053T>GCA372064687TRPS1c.2648A>C (p.Tyr883Ser)
c.2609A>C (p.Tyr870Ser)
c.2021A>C (p.Tyr674Ser)
c.1871A>C (p.Tyr624Ser)
c.2621A>C (p.Tyr874Ser)
c.2627A>C (p.Tyr876Ser)
8g.115587054A=CA1812945336TRPS1c.2647T= (p.Tyr883=)
c.2608T= (p.Tyr870=)
c.2020T= (p.Tyr674=)
c.1870T= (p.Tyr624=)
c.2620T= (p.Tyr874=)
c.2626T= (p.Tyr876=)
8g.115587054A>CCA372064688TRPS1c.2647T>G (p.Tyr883Asp)
c.2608T>G (p.Tyr870Asp)
c.2020T>G (p.Tyr674Asp)
c.1870T>G (p.Tyr624Asp)
c.2620T>G (p.Tyr874Asp)
c.2626T>G (p.Tyr876Asp)
8g.115587054A>GCA372064689TRPS1c.2647T>C (p.Tyr883His)
c.2608T>C (p.Tyr870His)
c.2020T>C (p.Tyr674His)
c.1870T>C (p.Tyr624His)
c.2620T>C (p.Tyr874His)
c.2626T>C (p.Tyr876His)
8g.115587054A>TCA184607462TRPS1c.2647T>A (p.Tyr883Asn)
c.2608T>A (p.Tyr870Asn)
c.2020T>A (p.Tyr674Asn)
c.1870T>A (p.Tyr624Asn)
c.2620T>A (p.Tyr874Asn)
c.2626T>A (p.Tyr876Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115587055C>ACA372064690TRPS1c.2646G>T (p.Gln882His)
c.2607G>T (p.Gln869His)
c.2019G>T (p.Gln673His)
c.1869G>T (p.Gln623His)
c.2619G>T (p.Gln873His)
c.2625G>T (p.Gln875His)
8g.115587055C>GCA372064691TRPS1c.2646G>C (p.Gln882His)
c.2607G>C (p.Gln869His)
c.2019G>C (p.Gln673His)
c.1869G>C (p.Gln623His)
c.2619G>C (p.Gln873His)
c.2625G>C (p.Gln875His)
8g.115587055C>TCA462658564TRPS1c.2646G>A (p.Gln882=)
c.2607G>A (p.Gln869=)
c.2019G>A (p.Gln673=)
c.1869G>A (p.Gln623=)
c.2619G>A (p.Gln873=)
c.2625G>A (p.Gln875=)
8g.115587056T>ACA372064693TRPS1c.2645A>T (p.Gln882Leu)
c.2606A>T (p.Gln869Leu)
c.2018A>T (p.Gln673Leu)
c.1868A>T (p.Gln623Leu)
c.2618A>T (p.Gln873Leu)
c.2624A>T (p.Gln875Leu)
8g.115587056T>CCA4851616TRPS1c.2645A>G (p.Gln882Arg)
c.2606A>G (p.Gln869Arg)
c.2018A>G (p.Gln673Arg)
c.1868A>G (p.Gln623Arg)
c.2618A>G (p.Gln873Arg)
c.2624A>G (p.Gln875Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587056T>GCA372064692TRPS1c.2645A>C (p.Gln882Pro)
c.2606A>C (p.Gln869Pro)
c.2018A>C (p.Gln673Pro)
c.1868A>C (p.Gln623Pro)
c.2618A>C (p.Gln873Pro)
c.2624A>C (p.Gln875Pro)
8g.115587056T=CA1812945341TRPS1c.2645A= (p.Gln882=)
c.2606A= (p.Gln869=)
c.2018A= (p.Gln673=)
c.1868A= (p.Gln623=)
c.2618A= (p.Gln873=)
c.2624A= (p.Gln875=)
8g.115587057G>ACA372064694TRPS1c.2644C>T (p.Gln882Ter)
c.2605C>T (p.Gln869Ter)
c.2017C>T (p.Gln673Ter)
c.1867C>T (p.Gln623Ter)
c.2617C>T (p.Gln873Ter)
c.2623C>T (p.Gln875Ter)
8g.115587057G>CCA372064696TRPS1c.2644C>G (p.Gln882Glu)
c.2605C>G (p.Gln869Glu)
c.2017C>G (p.Gln673Glu)
c.1867C>G (p.Gln623Glu)
c.2617C>G (p.Gln873Glu)
c.2623C>G (p.Gln875Glu)
8g.115587057G>TCA372064695TRPS1c.2644C>A (p.Gln882Lys)
c.2605C>A (p.Gln869Lys)
c.2017C>A (p.Gln673Lys)
c.1867C>A (p.Gln623Lys)
c.2617C>A (p.Gln873Lys)
c.2623C>A (p.Gln875Lys)
 gnomAD v4
8g.115587058C>ACA372064697TRPS1c.2643G>T (p.Gln881His)
c.2604G>T (p.Gln868His)
c.2016G>T (p.Gln672His)
c.1866G>T (p.Gln622His)
c.2616G>T (p.Gln872His)
c.2622G>T (p.Gln874His)
8g.115587058C>GCA372064698TRPS1c.2643G>C (p.Gln881His)
c.2604G>C (p.Gln868His)
c.2016G>C (p.Gln672His)
c.1866G>C (p.Gln622His)
c.2616G>C (p.Gln872His)
c.2622G>C (p.Gln874His)
8g.115587058C>TCA462658566TRPS1c.2643G>A (p.Gln881=)
c.2604G>A (p.Gln868=)
c.2016G>A (p.Gln672=)
c.1866G>A (p.Gln622=)
c.2616G>A (p.Gln872=)
c.2622G>A (p.Gln874=)
8g.115587059T>ACA372064699TRPS1c.2642A>T (p.Gln881Leu)
c.2603A>T (p.Gln868Leu)
c.2015A>T (p.Gln672Leu)
c.1865A>T (p.Gln622Leu)
c.2615A>T (p.Gln872Leu)
c.2621A>T (p.Gln874Leu)
8g.115587059T>CCA372064700TRPS1c.2642A>G (p.Gln881Arg)
c.2603A>G (p.Gln868Arg)
c.2015A>G (p.Gln672Arg)
c.1865A>G (p.Gln622Arg)
c.2615A>G (p.Gln872Arg)
c.2621A>G (p.Gln874Arg)
 gnomAD v4
8g.115587059T>GCA372064701TRPS1c.2642A>C (p.Gln881Pro)
c.2603A>C (p.Gln868Pro)
c.2015A>C (p.Gln672Pro)
c.1865A>C (p.Gln622Pro)
c.2615A>C (p.Gln872Pro)
c.2621A>C (p.Gln874Pro)
8g.115587060G>ACA372064702TRPS1c.2641C>T (p.Gln881Ter)
c.2602C>T (p.Gln868Ter)
c.2014C>T (p.Gln672Ter)
c.1864C>T (p.Gln622Ter)
c.2614C>T (p.Gln872Ter)
c.2620C>T (p.Gln874Ter)
 ClinVar dbSNP
8g.115587060G>CCA372064703TRPS1c.2641C>G (p.Gln881Glu)
c.2602C>G (p.Gln868Glu)
c.2014C>G (p.Gln672Glu)
c.1864C>G (p.Gln622Glu)
c.2614C>G (p.Gln872Glu)
c.2620C>G (p.Gln874Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115587060G=CA1812945346TRPS1c.2641C= (p.Gln881=)
c.2602C= (p.Gln868=)
c.2014C= (p.Gln672=)
c.1864C= (p.Gln622=)
c.2614C= (p.Gln872=)
c.2620C= (p.Gln874=)
8g.115587060G>TCA372064704TRPS1c.2641C>A (p.Gln881Lys)
c.2602C>A (p.Gln868Lys)
c.2014C>A (p.Gln672Lys)
c.1864C>A (p.Gln622Lys)
c.2614C>A (p.Gln872Lys)
c.2620C>A (p.Gln874Lys)
8g.115587064dupCA2695210056TRPS1c.2641dup (p.Gln881ProfsTer14)
c.2602dup (p.Gln868ProfsTer14)
c.2014dup (p.Gln672ProfsTer14)
c.1864dup (p.Gln622ProfsTer14)
c.2614dup (p.Gln872ProfsTer14)
c.2620dup (p.Gln874ProfsTer14)
8g.115587064delCA2695201517TRPS1c.2641del (p.Gln881SerfsTer?)
c.2602del (p.Gln868SerfsTer?)
c.2014del (p.Gln672SerfsTer?)
c.1864del (p.Gln622SerfsTer?)
c.2602del (p.Gln868SerfsTer27)
c.2614del (p.Gln872SerfsTer?)
c.2620del (p.Gln874SerfsTer?)
 ClinVar
8g.115587061G>ACA462658569TRPS1c.2640C>T (p.Pro880=)
c.2601C>T (p.Pro867=)
c.2013C>T (p.Pro671=)
c.1863C>T (p.Pro621=)
c.2613C>T (p.Pro871=)
c.2619C>T (p.Pro873=)
 dbSNP gnomAD v3 gnomAD v4
8g.115587061G>CCA4851617TRPS1c.2640C>G (p.Pro880=)
c.2601C>G (p.Pro867=)
c.2013C>G (p.Pro671=)
c.1863C>G (p.Pro621=)
c.2613C>G (p.Pro871=)
c.2619C>G (p.Pro873=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587061G=CA1812945352TRPS1c.2640C= (p.Pro880=)
c.2601C= (p.Pro867=)
c.2013C= (p.Pro671=)
c.1863C= (p.Pro621=)
c.2613C= (p.Pro871=)
c.2619C= (p.Pro873=)
8g.115587061G>TCA462658571TRPS1c.2640C>A (p.Pro880=)
c.2601C>A (p.Pro867=)
c.2013C>A (p.Pro671=)
c.1863C>A (p.Pro621=)
c.2613C>A (p.Pro871=)
c.2619C>A (p.Pro873=)
8g.115587062G>ACA184607473TRPS1c.2639C>T (p.Pro880Leu)
c.2600C>T (p.Pro867Leu)
c.2012C>T (p.Pro671Leu)
c.1862C>T (p.Pro621Leu)
c.2612C>T (p.Pro871Leu)
c.2618C>T (p.Pro873Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115587062G>CCA372064705TRPS1c.2639C>G (p.Pro880Arg)
c.2600C>G (p.Pro867Arg)
c.2012C>G (p.Pro671Arg)
c.1862C>G (p.Pro621Arg)
c.2612C>G (p.Pro871Arg)
c.2618C>G (p.Pro873Arg)
 gnomAD v4
8g.115587062G=CA1812945355TRPS1c.2639C= (p.Pro880=)
c.2600C= (p.Pro867=)
c.2012C= (p.Pro671=)
c.1862C= (p.Pro621=)
c.2612C= (p.Pro871=)
c.2618C= (p.Pro873=)
8g.115587062G>TCA372064706TRPS1c.2639C>A (p.Pro880His)
c.2600C>A (p.Pro867His)
c.2012C>A (p.Pro671His)
c.1862C>A (p.Pro621His)
c.2612C>A (p.Pro871His)
c.2618C>A (p.Pro873His)
8g.115587063G>ACA4851618TRPS1c.2638C>T (p.Pro880Ser)
c.2599C>T (p.Pro867Ser)
c.2011C>T (p.Pro671Ser)
c.1861C>T (p.Pro621Ser)
c.2611C>T (p.Pro871Ser)
c.2617C>T (p.Pro873Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587063G>CCA372064708TRPS1c.2638C>G (p.Pro880Ala)
c.2599C>G (p.Pro867Ala)
c.2011C>G (p.Pro671Ala)
c.1861C>G (p.Pro621Ala)
c.2611C>G (p.Pro871Ala)
c.2617C>G (p.Pro873Ala)
 dbSNP
8g.115587063G=CA1812945357TRPS1c.2638C= (p.Pro880=)
c.2599C= (p.Pro867=)
c.2011C= (p.Pro671=)
c.1861C= (p.Pro621=)
c.2611C= (p.Pro871=)
c.2617C= (p.Pro873=)
8g.115587063G>TCA372064707TRPS1c.2638C>A (p.Pro880Thr)
c.2599C>A (p.Pro867Thr)
c.2011C>A (p.Pro671Thr)
c.1861C>A (p.Pro621Thr)
c.2611C>A (p.Pro871Thr)
c.2617C>A (p.Pro873Thr)
8g.115587064G>ACA4851619TRPS1c.2637C>T (p.Leu879=)
c.2598C>T (p.Leu866=)
c.2010C>T (p.Leu670=)
c.1860C>T (p.Leu620=)
c.2610C>T (p.Leu870=)
c.2616C>T (p.Leu872=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587064G>CCA462658574TRPS1c.2637C>G (p.Leu879=)
c.2598C>G (p.Leu866=)
c.2010C>G (p.Leu670=)
c.1860C>G (p.Leu620=)
c.2610C>G (p.Leu870=)
c.2616C>G (p.Leu872=)
8g.115587064G=CA1812945362TRPS1c.2637C= (p.Leu879=)
c.2598C= (p.Leu866=)
c.2010C= (p.Leu670=)
c.1860C= (p.Leu620=)
c.2610C= (p.Leu870=)
c.2616C= (p.Leu872=)
8g.115587064G>TCA462658575TRPS1c.2637C>A (p.Leu879=)
c.2598C>A (p.Leu866=)
c.2010C>A (p.Leu670=)
c.1860C>A (p.Leu620=)
c.2610C>A (p.Leu870=)
c.2616C>A (p.Leu872=)
 gnomAD v4
8g.115587065A>CCA372064709TRPS1c.2636T>G (p.Leu879Arg)
c.2597T>G (p.Leu866Arg)
c.2009T>G (p.Leu670Arg)
c.1859T>G (p.Leu620Arg)
c.2609T>G (p.Leu870Arg)
c.2615T>G (p.Leu872Arg)
8g.115587065A>GCA372064710TRPS1c.2636T>C (p.Leu879Pro)
c.2597T>C (p.Leu866Pro)
c.2009T>C (p.Leu670Pro)
c.1859T>C (p.Leu620Pro)
c.2609T>C (p.Leu870Pro)
c.2615T>C (p.Leu872Pro)
 gnomAD v3 gnomAD v4
8g.115587065A>TCA372064711TRPS1c.2636T>A (p.Leu879His)
c.2597T>A (p.Leu866His)
c.2009T>A (p.Leu670His)
c.1859T>A (p.Leu620His)
c.2609T>A (p.Leu870His)
c.2615T>A (p.Leu872His)
8g.115587066G>ACA372064712TRPS1c.2635C>T (p.Leu879Phe)
c.2596C>T (p.Leu866Phe)
c.2008C>T (p.Leu670Phe)
c.1858C>T (p.Leu620Phe)
c.2608C>T (p.Leu870Phe)
c.2614C>T (p.Leu872Phe)
 gnomAD v4
8g.115587066G>CCA372064713TRPS1c.2635C>G (p.Leu879Val)
c.2596C>G (p.Leu866Val)
c.2008C>G (p.Leu670Val)
c.1858C>G (p.Leu620Val)
c.2608C>G (p.Leu870Val)
c.2614C>G (p.Leu872Val)
8g.115587066G>TCA372064714TRPS1c.2635C>A (p.Leu879Ile)
c.2596C>A (p.Leu866Ile)
c.2008C>A (p.Leu670Ile)
c.1858C>A (p.Leu620Ile)
c.2608C>A (p.Leu870Ile)
c.2614C>A (p.Leu872Ile)
8g.115587067G>ACA462658577TRPS1c.2634C>T (p.Ala878=)
c.2595C>T (p.Ala865=)
c.2007C>T (p.Ala669=)
c.1857C>T (p.Ala619=)
c.2607C>T (p.Ala869=)
c.2613C>T (p.Ala871=)
 ClinVar dbSNP gnomAD v4
8g.115587067G>CCA462658578TRPS1c.2634C>G (p.Ala878=)
c.2595C>G (p.Ala865=)
c.2007C>G (p.Ala669=)
c.1857C>G (p.Ala619=)
c.2607C>G (p.Ala869=)
c.2613C>G (p.Ala871=)
8g.115587067G=CA1812945364TRPS1c.2634C= (p.Ala878=)
c.2595C= (p.Ala865=)
c.2007C= (p.Ala669=)
c.1857C= (p.Ala619=)
c.2607C= (p.Ala869=)
c.2613C= (p.Ala871=)
8g.115587067G>TCA462658580TRPS1c.2634C>A (p.Ala878=)
c.2595C>A (p.Ala865=)
c.2007C>A (p.Ala669=)
c.1857C>A (p.Ala619=)
c.2607C>A (p.Ala869=)
c.2613C>A (p.Ala871=)
8g.115587068G>ACA372064715TRPS1c.2633C>T (p.Ala878Val)
c.2594C>T (p.Ala865Val)
c.2006C>T (p.Ala669Val)
c.1856C>T (p.Ala619Val)
c.2606C>T (p.Ala869Val)
c.2612C>T (p.Ala871Val)
8g.115587068G>CCA372064716TRPS1c.2633C>G (p.Ala878Gly)
c.2594C>G (p.Ala865Gly)
c.2006C>G (p.Ala669Gly)
c.1856C>G (p.Ala619Gly)
c.2606C>G (p.Ala869Gly)
c.2612C>G (p.Ala871Gly)
8g.115587068G>TCA372064717TRPS1c.2633C>A (p.Ala878Asp)
c.2594C>A (p.Ala865Asp)
c.2006C>A (p.Ala669Asp)
c.1856C>A (p.Ala619Asp)
c.2606C>A (p.Ala869Asp)
c.2612C>A (p.Ala871Asp)
8g.115587069C>ACA372064720TRPS1c.2632G>T (p.Ala878Ser)
c.2593G>T (p.Ala865Ser)
c.2005G>T (p.Ala669Ser)
c.1855G>T (p.Ala619Ser)
c.2605G>T (p.Ala869Ser)
c.2611G>T (p.Ala871Ser)
8g.115587069C=CA1812945366TRPS1c.2632G= (p.Ala878=)
c.2593G= (p.Ala865=)
c.2005G= (p.Ala669=)
c.1855G= (p.Ala619=)
c.2605G= (p.Ala869=)
c.2611G= (p.Ala871=)
8g.115587069C>GCA372064719TRPS1c.2632G>C (p.Ala878Pro)
c.2593G>C (p.Ala865Pro)
c.2005G>C (p.Ala669Pro)
c.1855G>C (p.Ala619Pro)
c.2605G>C (p.Ala869Pro)
c.2611G>C (p.Ala871Pro)
8g.115587069C>TCA372064718TRPS1c.2632G>A (p.Ala878Thr)
c.2593G>A (p.Ala865Thr)
c.2005G>A (p.Ala669Thr)
c.1855G>A (p.Ala619Thr)
c.2605G>A (p.Ala869Thr)
c.2611G>A (p.Ala871Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115587070C>ACA462658581TRPS1c.2631G>T (p.Gly877=)
c.2592G>T (p.Gly864=)
c.2004G>T (p.Gly668=)
c.1854G>T (p.Gly618=)
c.2604G>T (p.Gly868=)
c.2610G>T (p.Gly870=)
8g.115587070C=CA1812945369TRPS1c.2631G= (p.Gly877=)
c.2592G= (p.Gly864=)
c.2004G= (p.Gly668=)
c.1854G= (p.Gly618=)
c.2604G= (p.Gly868=)
c.2610G= (p.Gly870=)
8g.115587070C>GCA462658582TRPS1c.2631G>C (p.Gly877=)
c.2592G>C (p.Gly864=)
c.2004G>C (p.Gly668=)
c.1854G>C (p.Gly618=)
c.2604G>C (p.Gly868=)
c.2610G>C (p.Gly870=)
 dbSNP
8g.115587070C>TCA462658583TRPS1c.2631G>A (p.Gly877=)
c.2592G>A (p.Gly864=)
c.2004G>A (p.Gly668=)
c.1854G>A (p.Gly618=)
c.2604G>A (p.Gly868=)
c.2610G>A (p.Gly870=)
 dbSNP gnomAD v3 gnomAD v4
8g.115587071C>ACA372064723TRPS1c.2630G>T (p.Gly877Val)
c.2591G>T (p.Gly864Val)
c.2003G>T (p.Gly668Val)
c.1853G>T (p.Gly618Val)
c.2603G>T (p.Gly868Val)
c.2609G>T (p.Gly870Val)
 COSMIC COSMIC
8g.115587071C>GCA372064721TRPS1c.2630G>C (p.Gly877Ala)
c.2591G>C (p.Gly864Ala)
c.2003G>C (p.Gly668Ala)
c.1853G>C (p.Gly618Ala)
c.2603G>C (p.Gly868Ala)
c.2609G>C (p.Gly870Ala)
8g.115587071C>TCA372064722TRPS1c.2630G>A (p.Gly877Glu)
c.2591G>A (p.Gly864Glu)
c.2003G>A (p.Gly668Glu)
c.1853G>A (p.Gly618Glu)
c.2603G>A (p.Gly868Glu)
c.2609G>A (p.Gly870Glu)
 gnomAD v4
8g.115587072C>ACA372064724TRPS1c.2629G>T (p.Gly877Trp)
c.2590G>T (p.Gly864Trp)
c.2002G>T (p.Gly668Trp)
c.1852G>T (p.Gly618Trp)
c.2602G>T (p.Gly868Trp)
c.2608G>T (p.Gly870Trp)
 COSMIC COSMIC
8g.115587072C>GCA372064725TRPS1c.2629G>C (p.Gly877Arg)
c.2590G>C (p.Gly864Arg)
c.2002G>C (p.Gly668Arg)
c.1852G>C (p.Gly618Arg)
c.2602G>C (p.Gly868Arg)
c.2608G>C (p.Gly870Arg)
8g.115587072C>TCA372064726TRPS1c.2629G>A (p.Gly877Arg)
c.2590G>A (p.Gly864Arg)
c.2002G>A (p.Gly668Arg)
c.1852G>A (p.Gly618Arg)
c.2602G>A (p.Gly868Arg)
c.2608G>A (p.Gly870Arg)
 gnomAD v4
8g.115587073A=CA1812945374TRPS1c.2628T= (p.Ser876=)
c.2589T= (p.Ser863=)
c.2001T= (p.Ser667=)
c.1851T= (p.Ser617=)
c.2601T= (p.Ser867=)
c.2607T= (p.Ser869=)
8g.115587073A>CCA462658585TRPS1c.2628T>G (p.Ser876=)
c.2589T>G (p.Ser863=)
c.2001T>G (p.Ser667=)
c.1851T>G (p.Ser617=)
c.2601T>G (p.Ser867=)
c.2607T>G (p.Ser869=)
 dbSNP gnomAD v4
8g.115587073A>GCA462658586TRPS1c.2628T>C (p.Ser876=)
c.2589T>C (p.Ser863=)
c.2001T>C (p.Ser667=)
c.1851T>C (p.Ser617=)
c.2601T>C (p.Ser867=)
c.2607T>C (p.Ser869=)
 gnomAD v4
8g.115587073A>TCA4851620TRPS1c.2628T>A (p.Ser876=)
c.2589T>A (p.Ser863=)
c.2001T>A (p.Ser667=)
c.1851T>A (p.Ser617=)
c.2601T>A (p.Ser867=)
c.2607T>A (p.Ser869=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587074G>ACA204785TRPS1c.2627C>T (p.Ser876Phe)
c.2588C>T (p.Ser863Phe)
c.2000C>T (p.Ser667Phe)
c.1850C>T (p.Ser617Phe)
c.2600C>T (p.Ser867Phe)
c.2606C>T (p.Ser869Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587074G>CCA372064727TRPS1c.2627C>G (p.Ser876Cys)
c.2588C>G (p.Ser863Cys)
c.2000C>G (p.Ser667Cys)
c.1850C>G (p.Ser617Cys)
c.2600C>G (p.Ser867Cys)
c.2606C>G (p.Ser869Cys)
8g.115587074G=CA1812945378TRPS1c.2627C= (p.Ser876=)
c.2588C= (p.Ser863=)
c.2000C= (p.Ser667=)
c.1850C= (p.Ser617=)
c.2600C= (p.Ser867=)
c.2606C= (p.Ser869=)
8g.115587074G>TCA4851621TRPS1c.2627C>A (p.Ser876Tyr)
c.2588C>A (p.Ser863Tyr)
c.2000C>A (p.Ser667Tyr)
c.1850C>A (p.Ser617Tyr)
c.2600C>A (p.Ser867Tyr)
c.2606C>A (p.Ser869Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587075A>CCA372064728TRPS1c.2626T>G (p.Ser876Ala)
c.2587T>G (p.Ser863Ala)
c.1999T>G (p.Ser667Ala)
c.1849T>G (p.Ser617Ala)
c.2599T>G (p.Ser867Ala)
c.2605T>G (p.Ser869Ala)
8g.115587075A>GCA372064729TRPS1c.2626T>C (p.Ser876Pro)
c.2587T>C (p.Ser863Pro)
c.1999T>C (p.Ser667Pro)
c.1849T>C (p.Ser617Pro)
c.2599T>C (p.Ser867Pro)
c.2605T>C (p.Ser869Pro)
 gnomAD v4
8g.115587075A>TCA372064730TRPS1c.2626T>A (p.Ser876Thr)
c.2587T>A (p.Ser863Thr)
c.1999T>A (p.Ser667Thr)
c.1849T>A (p.Ser617Thr)
c.2599T>A (p.Ser867Thr)
c.2605T>A (p.Ser869Thr)
8g.115587076C>ACA372064731TRPS1c.2625G>T (p.Lys875Asn)
c.2586G>T (p.Lys862Asn)
c.1998G>T (p.Lys666Asn)
c.1848G>T (p.Lys616Asn)
c.2598G>T (p.Lys866Asn)
c.2604G>T (p.Lys868Asn)
 dbSNP gnomAD v4
8g.115587076C=CA1812945382TRPS1c.2625G= (p.Lys875=)
c.2586G= (p.Lys862=)
c.1998G= (p.Lys666=)
c.1848G= (p.Lys616=)
c.2598G= (p.Lys866=)
c.2604G= (p.Lys868=)
8g.115587076C>GCA4851622TRPS1c.2625G>C (p.Lys875Asn)
c.2586G>C (p.Lys862Asn)
c.1998G>C (p.Lys666Asn)
c.1848G>C (p.Lys616Asn)
c.2598G>C (p.Lys866Asn)
c.2604G>C (p.Lys868Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587076C>TCA462658591TRPS1c.2625G>A (p.Lys875=)
c.2586G>A (p.Lys862=)
c.1998G>A (p.Lys666=)
c.1848G>A (p.Lys616=)
c.2598G>A (p.Lys866=)
c.2604G>A (p.Lys868=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115587077T>ACA372064732TRPS1c.2624A>T (p.Lys875Met)
c.2585A>T (p.Lys862Met)
c.1997A>T (p.Lys666Met)
c.1847A>T (p.Lys616Met)
c.2597A>T (p.Lys866Met)
c.2603A>T (p.Lys868Met)
8g.115587077T>CCA372064734TRPS1c.2624A>G (p.Lys875Arg)
c.2585A>G (p.Lys862Arg)
c.1997A>G (p.Lys666Arg)
c.1847A>G (p.Lys616Arg)
c.2597A>G (p.Lys866Arg)
c.2603A>G (p.Lys868Arg)
 dbSNP gnomAD v4
8g.115587077T>GCA372064733TRPS1c.2624A>C (p.Lys875Thr)
c.2585A>C (p.Lys862Thr)
c.1997A>C (p.Lys666Thr)
c.1847A>C (p.Lys616Thr)
c.2597A>C (p.Lys866Thr)
c.2603A>C (p.Lys868Thr)
8g.115587077T=CA1812945389TRPS1c.2624A= (p.Lys875=)
c.2585A= (p.Lys862=)
c.1997A= (p.Lys666=)
c.1847A= (p.Lys616=)
c.2597A= (p.Lys866=)
c.2603A= (p.Lys868=)
8g.115587078T>ACA372064735TRPS1c.2623A>T (p.Lys875Ter)
c.2584A>T (p.Lys862Ter)
c.1996A>T (p.Lys666Ter)
c.1846A>T (p.Lys616Ter)
c.2596A>T (p.Lys866Ter)
c.2602A>T (p.Lys868Ter)
8g.115587078T>CCA372064736TRPS1c.2623A>G (p.Lys875Glu)
c.2584A>G (p.Lys862Glu)
c.1996A>G (p.Lys666Glu)
c.1846A>G (p.Lys616Glu)
c.2596A>G (p.Lys866Glu)
c.2602A>G (p.Lys868Glu)
8g.115587078T>GCA372064737TRPS1c.2623A>C (p.Lys875Gln)
c.2584A>C (p.Lys862Gln)
c.1996A>C (p.Lys666Gln)
c.1846A>C (p.Lys616Gln)
c.2596A>C (p.Lys866Gln)
c.2602A>C (p.Lys868Gln)
8g.115587079C>ACA372064738TRPS1c.2622G>T (p.Glu874Asp)
c.2583G>T (p.Glu861Asp)
c.1995G>T (p.Glu665Asp)
c.1845G>T (p.Glu615Asp)
c.2595G>T (p.Glu865Asp)
c.2601G>T (p.Glu867Asp)
 COSMIC
8g.115587079C>GCA372064739TRPS1c.2622G>C (p.Glu874Asp)
c.2583G>C (p.Glu861Asp)
c.1995G>C (p.Glu665Asp)
c.1845G>C (p.Glu615Asp)
c.2595G>C (p.Glu865Asp)
c.2601G>C (p.Glu867Asp)
8g.115587079C>TCA462658596TRPS1c.2622G>A (p.Glu874=)
c.2583G>A (p.Glu861=)
c.1995G>A (p.Glu665=)
c.1845G>A (p.Glu615=)
c.2595G>A (p.Glu865=)
c.2601G>A (p.Glu867=)
8g.115587080T>ACA372064740TRPS1c.2621A>T (p.Glu874Val)
c.2582A>T (p.Glu861Val)
c.1994A>T (p.Glu665Val)
c.1844A>T (p.Glu615Val)
c.2594A>T (p.Glu865Val)
c.2600A>T (p.Glu867Val)
8g.115587080T>CCA372064741TRPS1c.2621A>G (p.Glu874Gly)
c.2582A>G (p.Glu861Gly)
c.1994A>G (p.Glu665Gly)
c.1844A>G (p.Glu615Gly)
c.2594A>G (p.Glu865Gly)
c.2600A>G (p.Glu867Gly)
 dbSNP
8g.115587080T>GCA372064742TRPS1c.2621A>C (p.Glu874Ala)
c.2582A>C (p.Glu861Ala)
c.1994A>C (p.Glu665Ala)
c.1844A>C (p.Glu615Ala)
c.2594A>C (p.Glu865Ala)
c.2600A>C (p.Glu867Ala)
8g.115587080T=CA1812945391TRPS1c.2621A= (p.Glu874=)
c.2582A= (p.Glu861=)
c.1994A= (p.Glu665=)
c.1844A= (p.Glu615=)
c.2594A= (p.Glu865=)
c.2600A= (p.Glu867=)
8g.115587081C>ACA372064743TRPS1c.2620G>T (p.Glu874Ter)
c.2581G>T (p.Glu861Ter)
c.1993G>T (p.Glu665Ter)
c.1843G>T (p.Glu615Ter)
c.2593G>T (p.Glu865Ter)
c.2599G>T (p.Glu867Ter)
8g.115587081C>GCA372064744TRPS1c.2620G>C (p.Glu874Gln)
c.2581G>C (p.Glu861Gln)
c.1993G>C (p.Glu665Gln)
c.1843G>C (p.Glu615Gln)
c.2593G>C (p.Glu865Gln)
c.2599G>C (p.Glu867Gln)
8g.115587081C>TCA372064745TRPS1c.2620G>A (p.Glu874Lys)
c.2581G>A (p.Glu861Lys)
c.1993G>A (p.Glu665Lys)
c.1843G>A (p.Glu615Lys)
c.2593G>A (p.Glu865Lys)
c.2599G>A (p.Glu867Lys)
8g.115587082T>ACA462658602TRPS1c.2619A>T (p.Gly873=)
c.2580A>T (p.Gly860=)
c.1992A>T (p.Gly664=)
c.1842A>T (p.Gly614=)
c.2592A>T (p.Gly864=)
c.2598A>T (p.Gly866=)
8g.115587082T>CCA462658600TRPS1c.2619A>G (p.Gly873=)
c.2580A>G (p.Gly860=)
c.1992A>G (p.Gly664=)
c.1842A>G (p.Gly614=)
c.2592A>G (p.Gly864=)
c.2598A>G (p.Gly866=)
8g.115587082T>GCA462658599TRPS1c.2619A>C (p.Gly873=)
c.2580A>C (p.Gly860=)
c.1992A>C (p.Gly664=)
c.1842A>C (p.Gly614=)
c.2592A>C (p.Gly864=)
c.2598A>C (p.Gly866=)
8g.115587083C>ACA372064746TRPS1c.2618G>T (p.Gly873Val)
c.2579G>T (p.Gly860Val)
c.1991G>T (p.Gly664Val)
c.1841G>T (p.Gly614Val)
c.2591G>T (p.Gly864Val)
c.2597G>T (p.Gly866Val)
 COSMIC COSMIC
8g.115587083C=CA1812945396TRPS1c.2618G= (p.Gly873=)
c.2579G= (p.Gly860=)
c.1991G= (p.Gly664=)
c.1841G= (p.Gly614=)
c.2591G= (p.Gly864=)
c.2597G= (p.Gly866=)
8g.115587083C>GCA4851623TRPS1c.2618G>C (p.Gly873Ala)
c.2579G>C (p.Gly860Ala)
c.1991G>C (p.Gly664Ala)
c.1841G>C (p.Gly614Ala)
c.2591G>C (p.Gly864Ala)
c.2597G>C (p.Gly866Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587083C>TCA184607497TRPS1c.2618G>A (p.Gly873Glu)
c.2579G>A (p.Gly860Glu)
c.1991G>A (p.Gly664Glu)
c.1841G>A (p.Gly614Glu)
c.2591G>A (p.Gly864Glu)
c.2597G>A (p.Gly866Glu)
 dbSNP gnomAD v4
8g.115587084C>ACA372064747TRPS1c.2617G>T (p.Gly873Ter)
c.2578G>T (p.Gly860Ter)
c.1990G>T (p.Gly664Ter)
c.1840G>T (p.Gly614Ter)
c.2590G>T (p.Gly864Ter)
c.2596G>T (p.Gly866Ter)
8g.115587084C=CA1812945399TRPS1c.2617G= (p.Gly873=)
c.2578G= (p.Gly860=)
c.1990G= (p.Gly664=)
c.1840G= (p.Gly614=)
c.2590G= (p.Gly864=)
c.2596G= (p.Gly866=)
8g.115587084C>GCA372064749TRPS1c.2617G>C (p.Gly873Arg)
c.2578G>C (p.Gly860Arg)
c.1990G>C (p.Gly664Arg)
c.1840G>C (p.Gly614Arg)
c.2590G>C (p.Gly864Arg)
c.2596G>C (p.Gly866Arg)
 gnomAD v4
8g.115587084C>TCA372064748TRPS1c.2617G>A (p.Gly873Arg)
c.2578G>A (p.Gly860Arg)
c.1990G>A (p.Gly664Arg)
c.1840G>A (p.Gly614Arg)
c.2590G>A (p.Gly864Arg)
c.2596G>A (p.Gly866Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115587085G>ACA462658606TRPS1c.2616C>T (p.Gly872=)
c.2577C>T (p.Gly859=)
c.1989C>T (p.Gly663=)
c.1839C>T (p.Gly613=)
c.2589C>T (p.Gly863=)
c.2595C>T (p.Gly865=)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.115587085G>CCA462658607TRPS1c.2616C>G (p.Gly872=)
c.2577C>G (p.Gly859=)
c.1989C>G (p.Gly663=)
c.1839C>G (p.Gly613=)
c.2589C>G (p.Gly863=)
c.2595C>G (p.Gly865=)
 gnomAD v4
8g.115587085G=CA1812945402TRPS1c.2616C= (p.Gly872=)
c.2577C= (p.Gly859=)
c.1989C= (p.Gly663=)
c.1839C= (p.Gly613=)
c.2589C= (p.Gly863=)
c.2595C= (p.Gly865=)
8g.115587085G>TCA4851624TRPS1c.2616C>A (p.Gly872=)
c.2577C>A (p.Gly859=)
c.1989C>A (p.Gly663=)
c.1839C>A (p.Gly613=)
c.2589C>A (p.Gly863=)
c.2595C>A (p.Gly865=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587086C>ACA372064752TRPS1c.2615G>T (p.Gly872Val)
c.2576G>T (p.Gly859Val)
c.1988G>T (p.Gly663Val)
c.1838G>T (p.Gly613Val)
c.2588G>T (p.Gly863Val)
c.2594G>T (p.Gly865Val)
8g.115587086C>GCA372064750TRPS1c.2615G>C (p.Gly872Ala)
c.2576G>C (p.Gly859Ala)
c.1988G>C (p.Gly663Ala)
c.1838G>C (p.Gly613Ala)
c.2588G>C (p.Gly863Ala)
c.2594G>C (p.Gly865Ala)
8g.115587086C>TCA372064751TRPS1c.2615G>A (p.Gly872Asp)
c.2576G>A (p.Gly859Asp)
c.1988G>A (p.Gly663Asp)
c.1838G>A (p.Gly613Asp)
c.2588G>A (p.Gly863Asp)
c.2594G>A (p.Gly865Asp)
8g.115587087C>ACA372064753TRPS1c.2614G>T (p.Gly872Cys)
c.2575G>T (p.Gly859Cys)
c.1987G>T (p.Gly663Cys)
c.1837G>T (p.Gly613Cys)
c.2587G>T (p.Gly863Cys)
c.2593G>T (p.Gly865Cys)
8g.115587087C=CA1812945405TRPS1c.2614G= (p.Gly872=)
c.2575G= (p.Gly859=)
c.1987G= (p.Gly663=)
c.1837G= (p.Gly613=)
c.2587G= (p.Gly863=)
c.2593G= (p.Gly865=)
8g.115587087C>GCA372064754TRPS1c.2614G>C (p.Gly872Arg)
c.2575G>C (p.Gly859Arg)
c.1987G>C (p.Gly663Arg)
c.1837G>C (p.Gly613Arg)
c.2587G>C (p.Gly863Arg)
c.2593G>C (p.Gly865Arg)
8g.115587087C>TCA4851625TRPS1c.2614G>A (p.Gly872Ser)
c.2575G>A (p.Gly859Ser)
c.1987G>A (p.Gly663Ser)
c.1837G>A (p.Gly613Ser)
c.2587G>A (p.Gly863Ser)
c.2593G>A (p.Gly865Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587088A>CCA462658609TRPS1c.2613T>G (p.Ala871=)
c.2574T>G (p.Ala858=)
c.1986T>G (p.Ala662=)
c.1836T>G (p.Ala612=)
c.2586T>G (p.Ala862=)
c.2592T>G (p.Ala864=)
8g.115587088A>GCA462658610TRPS1c.2613T>C (p.Ala871=)
c.2574T>C (p.Ala858=)
c.1986T>C (p.Ala662=)
c.1836T>C (p.Ala612=)
c.2586T>C (p.Ala862=)
c.2592T>C (p.Ala864=)
8g.115587088A>TCA462658611TRPS1c.2613T>A (p.Ala871=)
c.2574T>A (p.Ala858=)
c.1986T>A (p.Ala662=)
c.1836T>A (p.Ala612=)
c.2586T>A (p.Ala862=)
c.2592T>A (p.Ala864=)
8g.115587089G>ACA372064755TRPS1c.2612C>T (p.Ala871Val)
c.2573C>T (p.Ala858Val)
c.1985C>T (p.Ala662Val)
c.1835C>T (p.Ala612Val)
c.2585C>T (p.Ala862Val)
c.2591C>T (p.Ala864Val)
8g.115587089G>CCA372064756TRPS1c.2612C>G (p.Ala871Gly)
c.2573C>G (p.Ala858Gly)
c.1985C>G (p.Ala662Gly)
c.1835C>G (p.Ala612Gly)
c.2585C>G (p.Ala862Gly)
c.2591C>G (p.Ala864Gly)
8g.115587089G=CA1812945410TRPS1c.2612C= (p.Ala871=)
c.2573C= (p.Ala858=)
c.1985C= (p.Ala662=)
c.1835C= (p.Ala612=)
c.2585C= (p.Ala862=)
c.2591C= (p.Ala864=)
8g.115587089G>TCA372064757TRPS1c.2612C>A (p.Ala871Asp)
c.2573C>A (p.Ala858Asp)
c.1985C>A (p.Ala662Asp)
c.1835C>A (p.Ala612Asp)
c.2585C>A (p.Ala862Asp)
c.2591C>A (p.Ala864Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.115587090C>ACA4851626TRPS1c.2611G>T (p.Ala871Ser)
c.2572G>T (p.Ala858Ser)
c.1984G>T (p.Ala662Ser)
c.1834G>T (p.Ala612Ser)
c.2584G>T (p.Ala862Ser)
c.2590G>T (p.Ala864Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587090C=CA1812945413TRPS1c.2611G= (p.Ala871=)
c.2572G= (p.Ala858=)
c.1984G= (p.Ala662=)
c.1834G= (p.Ala612=)
c.2584G= (p.Ala862=)
c.2590G= (p.Ala864=)
8g.115587090C>GCA372064758TRPS1c.2611G>C (p.Ala871Pro)
c.2572G>C (p.Ala858Pro)
c.1984G>C (p.Ala662Pro)
c.1834G>C (p.Ala612Pro)
c.2584G>C (p.Ala862Pro)
c.2590G>C (p.Ala864Pro)
8g.115587090C>TCA372064759TRPS1c.2611G>A (p.Ala871Thr)
c.2572G>A (p.Ala858Thr)
c.1984G>A (p.Ala662Thr)
c.1834G>A (p.Ala612Thr)
c.2584G>A (p.Ala862Thr)
c.2590G>A (p.Ala864Thr)
 gnomAD v4
8g.115587091T>ACA462658612TRPS1c.2610A>T (p.Pro870=)
c.2571A>T (p.Pro857=)
c.1983A>T (p.Pro661=)
c.1833A>T (p.Pro611=)
c.2583A>T (p.Pro861=)
c.2589A>T (p.Pro863=)
8g.115587091T>CCA462658613TRPS1c.2610A>G (p.Pro870=)
c.2571A>G (p.Pro857=)
c.1983A>G (p.Pro661=)
c.1833A>G (p.Pro611=)
c.2583A>G (p.Pro861=)
c.2589A>G (p.Pro863=)
8g.115587091T>GCA462658614TRPS1c.2610A>C (p.Pro870=)
c.2571A>C (p.Pro857=)
c.1983A>C (p.Pro661=)
c.1833A>C (p.Pro611=)
c.2583A>C (p.Pro861=)
c.2589A>C (p.Pro863=)
 COSMIC COSMIC
8g.115587092G>ACA372064762TRPS1c.2609C>T (p.Pro870Leu)
c.2570C>T (p.Pro857Leu)
c.1982C>T (p.Pro661Leu)
c.1832C>T (p.Pro611Leu)
c.2582C>T (p.Pro861Leu)
c.2588C>T (p.Pro863Leu)
 ClinVar
8g.115587092G>CCA372064761TRPS1c.2609C>G (p.Pro870Arg)
c.2570C>G (p.Pro857Arg)
c.1982C>G (p.Pro661Arg)
c.1832C>G (p.Pro611Arg)
c.2582C>G (p.Pro861Arg)
c.2588C>G (p.Pro863Arg)
8g.115587092G>TCA372064760TRPS1c.2609C>A (p.Pro870Gln)
c.2570C>A (p.Pro857Gln)
c.1982C>A (p.Pro661Gln)
c.1832C>A (p.Pro611Gln)
c.2582C>A (p.Pro861Gln)
c.2588C>A (p.Pro863Gln)
8g.115587093G>ACA372064763TRPS1c.2608C>T (p.Pro870Ser)
c.2569C>T (p.Pro857Ser)
c.1981C>T (p.Pro661Ser)
c.1831C>T (p.Pro611Ser)
c.2581C>T (p.Pro861Ser)
c.2587C>T (p.Pro863Ser)
8g.115587093G>CCA372064764TRPS1c.2608C>G (p.Pro870Ala)
c.2569C>G (p.Pro857Ala)
c.1981C>G (p.Pro661Ala)
c.1831C>G (p.Pro611Ala)
c.2581C>G (p.Pro861Ala)
c.2587C>G (p.Pro863Ala)
8g.115587093G>TCA372064765TRPS1c.2608C>A (p.Pro870Thr)
c.2569C>A (p.Pro857Thr)
c.1981C>A (p.Pro661Thr)
c.1831C>A (p.Pro611Thr)
c.2581C>A (p.Pro861Thr)
c.2587C>A (p.Pro863Thr)
8g.115587094C>ACA462658616TRPS1c.2607G>T (p.Ala869=)
c.2568G>T (p.Ala856=)
c.1980G>T (p.Ala660=)
c.1830G>T (p.Ala610=)
c.2580G>T (p.Ala860=)
c.2586G>T (p.Ala862=)
8g.115587094C>GCA462658618TRPS1c.2607G>C (p.Ala869=)
c.2568G>C (p.Ala856=)
c.1980G>C (p.Ala660=)
c.1830G>C (p.Ala610=)
c.2580G>C (p.Ala860=)
c.2586G>C (p.Ala862=)
8g.115587094C>TCA462658620TRPS1c.2607G>A (p.Ala869=)
c.2568G>A (p.Ala856=)
c.1980G>A (p.Ala660=)
c.1830G>A (p.Ala610=)
c.2580G>A (p.Ala860=)
c.2586G>A (p.Ala862=)
 gnomAD v4
8g.115587095G>ACA4851627TRPS1c.2606C>T (p.Ala869Val)
c.2567C>T (p.Ala856Val)
c.1979C>T (p.Ala660Val)
c.1829C>T (p.Ala610Val)
c.2579C>T (p.Ala860Val)
c.2585C>T (p.Ala862Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.115587095G>CCA372064766TRPS1c.2606C>G (p.Ala869Gly)
c.2567C>G (p.Ala856Gly)
c.1979C>G (p.Ala660Gly)
c.1829C>G (p.Ala610Gly)
c.2579C>G (p.Ala860Gly)
c.2585C>G (p.Ala862Gly)
8g.115587095G=CA1812945417TRPS1c.2606C= (p.Ala869=)
c.2567C= (p.Ala856=)
c.1979C= (p.Ala660=)
c.1829C= (p.Ala610=)
c.2579C= (p.Ala860=)
c.2585C= (p.Ala862=)
8g.115587095G>TCA372064767TRPS1c.2606C>A (p.Ala869Glu)
c.2567C>A (p.Ala856Glu)
c.1979C>A (p.Ala660Glu)
c.1829C>A (p.Ala610Glu)
c.2579C>A (p.Ala860Glu)
c.2585C>A (p.Ala862Glu)
8g.115587096C>ACA372064768TRPS1c.2605G>T (p.Ala869Ser)
c.2566G>T (p.Ala856Ser)
c.1978G>T (p.Ala660Ser)
c.1828G>T (p.Ala610Ser)
c.2578G>T (p.Ala860Ser)
c.2584G>T (p.Ala862Ser)
 gnomAD v4
8g.115587096C=CA1812945420TRPS1c.2605G= (p.Ala869=)
c.2566G= (p.Ala856=)
c.1978G= (p.Ala660=)
c.1828G= (p.Ala610=)
c.2578G= (p.Ala860=)
c.2584G= (p.Ala862=)
8g.115587096C>GCA372064769TRPS1c.2605G>C (p.Ala869Pro)
c.2566G>C (p.Ala856Pro)
c.1978G>C (p.Ala660Pro)
c.1828G>C (p.Ala610Pro)
c.2578G>C (p.Ala860Pro)
c.2584G>C (p.Ala862Pro)
8g.115587096C>TCA4851628TRPS1c.2605G>A (p.Ala869Thr)
c.2566G>A (p.Ala856Thr)
c.1978G>A (p.Ala660Thr)
c.1828G>A (p.Ala610Thr)
c.2578G>A (p.Ala860Thr)
c.2584G>A (p.Ala862Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587097C>ACA462658624TRPS1c.2604G>T (p.Gly868=)
c.2565G>T (p.Gly855=)
c.1977G>T (p.Gly659=)
c.1827G>T (p.Gly609=)
c.2577G>T (p.Gly859=)
c.2583G>T (p.Gly861=)
8g.115587097C>GCA462658625TRPS1c.2604G>C (p.Gly868=)
c.2565G>C (p.Gly855=)
c.1977G>C (p.Gly659=)
c.1827G>C (p.Gly609=)
c.2577G>C (p.Gly859=)
c.2583G>C (p.Gly861=)
8g.115587097C>TCA462658626TRPS1c.2604G>A (p.Gly868=)
c.2565G>A (p.Gly855=)
c.1977G>A (p.Gly659=)
c.1827G>A (p.Gly609=)
c.2577G>A (p.Gly859=)
c.2583G>A (p.Gly861=)
8g.115587098C>ACA372064770TRPS1c.2603G>T (p.Gly868Val)
c.2564G>T (p.Gly855Val)
c.1976G>T (p.Gly659Val)
c.1826G>T (p.Gly609Val)
c.2576G>T (p.Gly859Val)
c.2582G>T (p.Gly861Val)
8g.115587098C=CA1812945423TRPS1c.2603G= (p.Gly868=)
c.2564G= (p.Gly855=)
c.1976G= (p.Gly659=)
c.1826G= (p.Gly609=)
c.2576G= (p.Gly859=)
c.2582G= (p.Gly861=)
8g.115587098C>GCA372064771TRPS1c.2603G>C (p.Gly868Ala)
c.2564G>C (p.Gly855Ala)
c.1976G>C (p.Gly659Ala)
c.1826G>C (p.Gly609Ala)
c.2576G>C (p.Gly859Ala)
c.2582G>C (p.Gly861Ala)
 dbSNP
8g.115587098C>TCA372064772TRPS1c.2603G>A (p.Gly868Glu)
c.2564G>A (p.Gly855Glu)
c.1976G>A (p.Gly659Glu)
c.1826G>A (p.Gly609Glu)
c.2576G>A (p.Gly859Glu)
c.2582G>A (p.Gly861Glu)
8g.115587099C>ACA372064775TRPS1c.2602G>T (p.Gly868Trp)
c.2563G>T (p.Gly855Trp)
c.1975G>T (p.Gly659Trp)
c.1825G>T (p.Gly609Trp)
c.2575G>T (p.Gly859Trp)
c.2581G>T (p.Gly861Trp)
 gnomAD v4
8g.115587099C>GCA372064774TRPS1c.2602G>C (p.Gly868Arg)
c.2563G>C (p.Gly855Arg)
c.1975G>C (p.Gly659Arg)
c.1825G>C (p.Gly609Arg)
c.2575G>C (p.Gly859Arg)
c.2581G>C (p.Gly861Arg)
8g.115587099C>TCA372064773TRPS1c.2602G>A (p.Gly868Arg)
c.2563G>A (p.Gly855Arg)
c.1975G>A (p.Gly659Arg)
c.1825G>A (p.Gly609Arg)
c.2575G>A (p.Gly859Arg)
c.2581G>A (p.Gly861Arg)
8g.115587100C>ACA372064777TRPS1c.2601G>T (p.Gln867His)
c.2562G>T (p.Gln854His)
c.1974G>T (p.Gln658His)
c.1824G>T (p.Gln608His)
c.2574G>T (p.Gln858His)
c.2580G>T (p.Gln860His)
 ClinVar dbSNP
8g.115587100C=CA1812945428TRPS1c.2601G= (p.Gln867=)
c.2562G= (p.Gln854=)
c.1974G= (p.Gln658=)
c.1824G= (p.Gln608=)
c.2574G= (p.Gln858=)
c.2580G= (p.Gln860=)
8g.115587100C>GCA372064776TRPS1c.2601G>C (p.Gln867His)
c.2562G>C (p.Gln854His)
c.1974G>C (p.Gln658His)
c.1824G>C (p.Gln608His)
c.2574G>C (p.Gln858His)
c.2580G>C (p.Gln860His)
8g.115587100C>TCA462658629TRPS1c.2601G>A (p.Gln867=)
c.2562G>A (p.Gln854=)
c.1974G>A (p.Gln658=)
c.1824G>A (p.Gln608=)
c.2574G>A (p.Gln858=)
c.2580G>A (p.Gln860=)
 gnomAD v4
8g.115587101T>ACA372064778TRPS1c.2600A>T (p.Gln867Leu)
c.2561A>T (p.Gln854Leu)
c.1973A>T (p.Gln658Leu)
c.1823A>T (p.Gln608Leu)
c.2573A>T (p.Gln858Leu)
c.2579A>T (p.Gln860Leu)
8g.115587101T>CCA372064779TRPS1c.2600A>G (p.Gln867Arg)
c.2561A>G (p.Gln854Arg)
c.1973A>G (p.Gln658Arg)
c.1823A>G (p.Gln608Arg)
c.2573A>G (p.Gln858Arg)
c.2579A>G (p.Gln860Arg)
8g.115587101T>GCA372064780TRPS1c.2600A>C (p.Gln867Pro)
c.2561A>C (p.Gln854Pro)
c.1973A>C (p.Gln658Pro)
c.1823A>C (p.Gln608Pro)
c.2573A>C (p.Gln858Pro)
c.2579A>C (p.Gln860Pro)
8g.115587102G>ACA372064781TRPS1c.2599C>T (p.Gln867Ter)
c.2560C>T (p.Gln854Ter)
c.1972C>T (p.Gln658Ter)
c.1822C>T (p.Gln608Ter)
c.2572C>T (p.Gln858Ter)
c.2578C>T (p.Gln860Ter)
8g.115587102G>CCA372064782TRPS1c.2599C>G (p.Gln867Glu)
c.2560C>G (p.Gln854Glu)
c.1972C>G (p.Gln658Glu)
c.1822C>G (p.Gln608Glu)
c.2572C>G (p.Gln858Glu)
c.2578C>G (p.Gln860Glu)
 gnomAD v4
8g.115587102G>TCA372064783TRPS1c.2599C>A (p.Gln867Lys)
c.2560C>A (p.Gln854Lys)
c.1972C>A (p.Gln658Lys)
c.1822C>A (p.Gln608Lys)
c.2572C>A (p.Gln858Lys)
c.2578C>A (p.Gln860Lys)
8g.115587103C>ACA462658633TRPS1c.2598G>T (p.Leu866=)
c.2559G>T (p.Leu853=)
c.1971G>T (p.Leu657=)
c.1821G>T (p.Leu607=)
c.2571G>T (p.Leu857=)
c.2577G>T (p.Leu859=)
 gnomAD v4
8g.115587103C>GCA462658634TRPS1c.2598G>C (p.Leu866=)
c.2559G>C (p.Leu853=)
c.1971G>C (p.Leu657=)
c.1821G>C (p.Leu607=)
c.2571G>C (p.Leu857=)
c.2577G>C (p.Leu859=)
8g.115587103C>TCA462658635TRPS1c.2598G>A (p.Leu866=)
c.2559G>A (p.Leu853=)
c.1971G>A (p.Leu657=)
c.1821G>A (p.Leu607=)
c.2571G>A (p.Leu857=)
c.2577G>A (p.Leu859=)
 COSMIC COSMIC
8g.115587104A=CA1812945433TRPS1c.2597T= (p.Leu866=)
c.2558T= (p.Leu853=)
c.1970T= (p.Leu657=)
c.1820T= (p.Leu607=)
c.2570T= (p.Leu857=)
c.2576T= (p.Leu859=)
8g.115587104A>CCA372064784TRPS1c.2597T>G (p.Leu866Arg)
c.2558T>G (p.Leu853Arg)
c.1970T>G (p.Leu657Arg)
c.1820T>G (p.Leu607Arg)
c.2570T>G (p.Leu857Arg)
c.2576T>G (p.Leu859Arg)
8g.115587104A>GCA4851629TRPS1c.2597T>C (p.Leu866Pro)
c.2558T>C (p.Leu853Pro)
c.1970T>C (p.Leu657Pro)
c.1820T>C (p.Leu607Pro)
c.2570T>C (p.Leu857Pro)
c.2576T>C (p.Leu859Pro)
 dbSNP ExAC
8g.115587104A>TCA372064785TRPS1c.2597T>A (p.Leu866Gln)
c.2558T>A (p.Leu853Gln)
c.1970T>A (p.Leu657Gln)
c.1820T>A (p.Leu607Gln)
c.2570T>A (p.Leu857Gln)
c.2576T>A (p.Leu859Gln)
8g.115587105G>ACA184607518TRPS1c.2596C>T (p.Leu866=)
c.2557C>T (p.Leu853=)
c.1969C>T (p.Leu657=)
c.1819C>T (p.Leu607=)
c.2569C>T (p.Leu857=)
c.2575C>T (p.Leu859=)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.115587105G>CCA372064786TRPS1c.2596C>G (p.Leu866Val)
c.2557C>G (p.Leu853Val)
c.1969C>G (p.Leu657Val)
c.1819C>G (p.Leu607Val)
c.2569C>G (p.Leu857Val)
c.2575C>G (p.Leu859Val)
8g.115587105G=CA1812945438TRPS1c.2596C= (p.Leu866=)
c.2557C= (p.Leu853=)
c.1969C= (p.Leu657=)
c.1819C= (p.Leu607=)
c.2569C= (p.Leu857=)
c.2575C= (p.Leu859=)
8g.115587105G>TCA372064787TRPS1c.2596C>A (p.Leu866Met)
c.2557C>A (p.Leu853Met)
c.1969C>A (p.Leu657Met)
c.1819C>A (p.Leu607Met)
c.2569C>A (p.Leu857Met)
c.2575C>A (p.Leu859Met)
8g.115587106G>ACA462658639TRPS1c.2595C>T (p.Phe865=)
c.2556C>T (p.Phe852=)
c.1968C>T (p.Phe656=)
c.1818C>T (p.Phe606=)
c.2568C>T (p.Phe856=)
c.2574C>T (p.Phe858=)
8g.115587106G>CCA372064788TRPS1c.2595C>G (p.Phe865Leu)
c.2556C>G (p.Phe852Leu)
c.1968C>G (p.Phe656Leu)
c.1818C>G (p.Phe606Leu)
c.2568C>G (p.Phe856Leu)
c.2574C>G (p.Phe858Leu)
8g.115587106G=CA1812945440TRPS1c.2595C= (p.Phe865=)
c.2556C= (p.Phe852=)
c.1968C= (p.Phe656=)
c.1818C= (p.Phe606=)
c.2568C= (p.Phe856=)
c.2574C= (p.Phe858=)
8g.115587106G>TCA372064789TRPS1c.2595C>A (p.Phe865Leu)
c.2556C>A (p.Phe852Leu)
c.1968C>A (p.Phe656Leu)
c.1818C>A (p.Phe606Leu)
c.2568C>A (p.Phe856Leu)
c.2574C>A (p.Phe858Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.115587107A=CA1812945441TRPS1c.2594T= (p.Phe865=)
c.2555T= (p.Phe852=)
c.1967T= (p.Phe656=)
c.1817T= (p.Phe606=)
c.2567T= (p.Phe856=)
c.2573T= (p.Phe858=)
8g.115587107A>CCA372064790TRPS1c.2594T>G (p.Phe865Cys)
c.2555T>G (p.Phe852Cys)
c.1967T>G (p.Phe656Cys)
c.1817T>G (p.Phe606Cys)
c.2567T>G (p.Phe856Cys)
c.2573T>G (p.Phe858Cys)
8g.115587107A>GCA372064792TRPS1c.2594T>C (p.Phe865Ser)
c.2555T>C (p.Phe852Ser)
c.1967T>C (p.Phe656Ser)
c.1817T>C (p.Phe606Ser)
c.2567T>C (p.Phe856Ser)
c.2573T>C (p.Phe858Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.115587107A>TCA372064791TRPS1c.2594T>A (p.Phe865Tyr)
c.2555T>A (p.Phe852Tyr)
c.1967T>A (p.Phe656Tyr)
c.1817T>A (p.Phe606Tyr)
c.2567T>A (p.Phe856Tyr)
c.2573T>A (p.Phe858Tyr)
8g.115587108A>CCA372064793TRPS1c.2593T>G (p.Phe865Val)
c.2554T>G (p.Phe852Val)
c.1966T>G (p.Phe656Val)
c.1816T>G (p.Phe606Val)
c.2566T>G (p.Phe856Val)
c.2572T>G (p.Phe858Val)
8g.115587108A>GCA372064794TRPS1c.2593T>C (p.Phe865Leu)
c.2554T>C (p.Phe852Leu)
c.1966T>C (p.Phe656Leu)
c.1816T>C (p.Phe606Leu)
c.2566T>C (p.Phe856Leu)
c.2572T>C (p.Phe858Leu)
8g.115587108A>TCA372064795TRPS1c.2593T>A (p.Phe865Ile)
c.2554T>A (p.Phe852Ile)
c.1966T>A (p.Phe656Ile)
c.1816T>A (p.Phe606Ile)
c.2566T>A (p.Phe856Ile)
c.2572T>A (p.Phe858Ile)
8g.115587109T>ACA462658643TRPS1c.2592A>T (p.Gly864=)
c.2553A>T (p.Gly851=)
c.1965A>T (p.Gly655=)
c.1815A>T (p.Gly605=)
c.2565A>T (p.Gly855=)
c.2571A>T (p.Gly857=)
 gnomAD v4
8g.115587109T>CCA462658644TRPS1c.2592A>G (p.Gly864=)
c.2553A>G (p.Gly851=)
c.1965A>G (p.Gly655=)
c.1815A>G (p.Gly605=)
c.2565A>G (p.Gly855=)
c.2571A>G (p.Gly857=)
 dbSNP
8g.115587109T>GCA462658645TRPS1c.2592A>C (p.Gly864=)
c.2553A>C (p.Gly851=)
c.1965A>C (p.Gly655=)
c.1815A>C (p.Gly605=)
c.2565A>C (p.Gly855=)
c.2571A>C (p.Gly857=)
8g.115587109T=CA1812945444TRPS1c.2592A= (p.Gly864=)
c.2553A= (p.Gly851=)
c.1965A= (p.Gly655=)
c.1815A= (p.Gly605=)
c.2565A= (p.Gly855=)
c.2571A= (p.Gly857=)
8g.115587110C>ACA372064796TRPS1c.2591G>T (p.Gly864Val)
c.2552G>T (p.Gly851Val)
c.1964G>T (p.Gly655Val)
c.1814G>T (p.Gly605Val)
c.2564G>T (p.Gly855Val)
c.2570G>T (p.Gly857Val)
 COSMIC COSMIC
8g.115587110C>GCA372064797TRPS1c.2591G>C (p.Gly864Ala)
c.2552G>C (p.Gly851Ala)
c.1964G>C (p.Gly655Ala)
c.1814G>C (p.Gly605Ala)
c.2564G>C (p.Gly855Ala)
c.2570G>C (p.Gly857Ala)
 gnomAD v4
8g.115587110C>TCA372064798TRPS1c.2591G>A (p.Gly864Glu)
c.2552G>A (p.Gly851Glu)
c.1964G>A (p.Gly655Glu)
c.1814G>A (p.Gly605Glu)
c.2564G>A (p.Gly855Glu)
c.2570G>A (p.Gly857Glu)
8g.115587111C>ACA372064799TRPS1c.2590G>T (p.Gly864Ter)
c.2551G>T (p.Gly851Ter)
c.1963G>T (p.Gly655Ter)
c.1813G>T (p.Gly605Ter)
c.2563G>T (p.Gly855Ter)
c.2569G>T (p.Gly857Ter)
8g.115587111C=CA1812945448TRPS1c.2590G= (p.Gly864=)
c.2551G= (p.Gly851=)
c.1963G= (p.Gly655=)
c.1813G= (p.Gly605=)
c.2563G= (p.Gly855=)
c.2569G= (p.Gly857=)
8g.115587111C>GCA372064800TRPS1c.2590G>C (p.Gly864Arg)
c.2551G>C (p.Gly851Arg)
c.1963G>C (p.Gly655Arg)
c.1813G>C (p.Gly605Arg)
c.2563G>C (p.Gly855Arg)
c.2569G>C (p.Gly857Arg)
 COSMIC COSMIC
8g.115587111C>TCA184607519TRPS1c.2590G>A (p.Gly864Arg)
c.2551G>A (p.Gly851Arg)
c.1963G>A (p.Gly655Arg)
c.1813G>A (p.Gly605Arg)
c.2563G>A (p.Gly855Arg)
c.2569G>A (p.Gly857Arg)
 dbSNP
8g.115587112C>ACA372064801TRPS1c.2589G>T (p.Lys863Asn)
c.2550G>T (p.Lys850Asn)
c.1962G>T (p.Lys654Asn)
c.1812G>T (p.Lys604Asn)
c.2562G>T (p.Lys854Asn)
c.2568G>T (p.Lys856Asn)
8g.115587112C=CA1812945452TRPS1c.2589G= (p.Lys863=)
c.2550G= (p.Lys850=)
c.1962G= (p.Lys654=)
c.1812G= (p.Lys604=)
c.2562G= (p.Lys854=)
c.2568G= (p.Lys856=)
8g.115587112C>GCA372064802TRPS1c.2589G>C (p.Lys863Asn)
c.2550G>C (p.Lys850Asn)
c.1962G>C (p.Lys654Asn)
c.1812G>C (p.Lys604Asn)
c.2562G>C (p.Lys854Asn)
c.2568G>C (p.Lys856Asn)
8g.115587112C>TCA184607521TRPS1c.2589G>A (p.Lys863=)
c.2550G>A (p.Lys850=)
c.1962G>A (p.Lys654=)
c.1812G>A (p.Lys604=)
c.2562G>A (p.Lys854=)
c.2568G>A (p.Lys856=)
 dbSNP
8g.115587113T>ACA372064804TRPS1c.2588A>T (p.Lys863Met)
c.2549A>T (p.Lys850Met)
c.1961A>T (p.Lys654Met)
c.1811A>T (p.Lys604Met)
c.2561A>T (p.Lys854Met)
c.2567A>T (p.Lys856Met)
8g.115587113T>CCA372064805TRPS1c.2588A>G (p.Lys863Arg)
c.2549A>G (p.Lys850Arg)
c.1961A>G (p.Lys654Arg)
c.1811A>G (p.Lys604Arg)
c.2561A>G (p.Lys854Arg)
c.2567A>G (p.Lys856Arg)
 gnomAD v4
8g.115587113T>GCA372064803TRPS1c.2588A>C (p.Lys863Thr)
c.2549A>C (p.Lys850Thr)
c.1961A>C (p.Lys654Thr)
c.1811A>C (p.Lys604Thr)
c.2561A>C (p.Lys854Thr)
c.2567A>C (p.Lys856Thr)
8g.115587114T>ACA372064806TRPS1c.2587A>T (p.Lys863Ter)
c.2548A>T (p.Lys850Ter)
c.1960A>T (p.Lys654Ter)
c.1810A>T (p.Lys604Ter)
c.2560A>T (p.Lys854Ter)
c.2566A>T (p.Lys856Ter)
8g.115587114T>CCA372064808TRPS1c.2587A>G (p.Lys863Glu)
c.2548A>G (p.Lys850Glu)
c.1960A>G (p.Lys654Glu)
c.1810A>G (p.Lys604Glu)
c.2560A>G (p.Lys854Glu)
c.2566A>G (p.Lys856Glu)
 dbSNP
8g.115587114T>GCA372064807TRPS1c.2587A>C (p.Lys863Gln)
c.2548A>C (p.Lys850Gln)
c.1960A>C (p.Lys654Gln)
c.1810A>C (p.Lys604Gln)
c.2560A>C (p.Lys854Gln)
c.2566A>C (p.Lys856Gln)
 gnomAD v4
8g.115587114T=CA1812945455TRPS1c.2587A= (p.Lys863=)
c.2548A= (p.Lys850=)
c.1960A= (p.Lys654=)
c.1810A= (p.Lys604=)
c.2560A= (p.Lys854=)
c.2566A= (p.Lys856=)
8g.115587115G>ACA462658650TRPS1c.2586C>T (p.Thr862=)
c.2547C>T (p.Thr849=)
c.1959C>T (p.Thr653=)
c.1809C>T (p.Thr603=)
c.2559C>T (p.Thr853=)
c.2565C>T (p.Thr855=)
8g.115587115G>CCA462658651TRPS1c.2586C>G (p.Thr862=)
c.2547C>G (p.Thr849=)
c.1959C>G (p.Thr653=)
c.1809C>G (p.Thr603=)
c.2559C>G (p.Thr853=)
c.2565C>G (p.Thr855=)
 ClinVar dbSNP gnomAD v4
8g.115587115G=CA1812945459TRPS1c.2586C= (p.Thr862=)
c.2547C= (p.Thr849=)
c.1959C= (p.Thr653=)
c.1809C= (p.Thr603=)
c.2559C= (p.Thr853=)
c.2565C= (p.Thr855=)
8g.115587115G>TCA462658652TRPS1c.2586C>A (p.Thr862=)
c.2547C>A (p.Thr849=)
c.1959C>A (p.Thr653=)
c.1809C>A (p.Thr603=)
c.2559C>A (p.Thr853=)
c.2565C>A (p.Thr855=)
8g.115587116G>ACA372064809TRPS1c.2585C>T (p.Thr862Ile)
c.2546C>T (p.Thr849Ile)
c.1958C>T (p.Thr653Ile)
c.1808C>T (p.Thr603Ile)
c.2558C>T (p.Thr853Ile)
c.2564C>T (p.Thr855Ile)
8g.115587116G>CCA372064810TRPS1c.2585C>G (p.Thr862Ser)
c.2546C>G (p.Thr849Ser)
c.1958C>G (p.Thr653Ser)
c.1808C>G (p.Thr603Ser)
c.2558C>G (p.Thr853Ser)
c.2564C>G (p.Thr855Ser)
8g.115587116G>TCA372064811TRPS1c.2585C>A (p.Thr862Asn)
c.2546C>A (p.Thr849Asn)
c.1958C>A (p.Thr653Asn)
c.1808C>A (p.Thr603Asn)
c.2558C>A (p.Thr853Asn)
c.2564C>A (p.Thr855Asn)
 gnomAD v4 COSMIC COSMIC
8g.115587117T>ACA372064812TRPS1c.2584A>T (p.Thr862Ser)
c.2545A>T (p.Thr849Ser)
c.1957A>T (p.Thr653Ser)
c.1807A>T (p.Thr603Ser)
c.2557A>T (p.Thr853Ser)
c.2563A>T (p.Thr855Ser)
8g.115587117T>CCA372064813TRPS1c.2584A>G (p.Thr862Ala)
c.2545A>G (p.Thr849Ala)
c.1957A>G (p.Thr653Ala)
c.1807A>G (p.Thr603Ala)
c.2557A>G (p.Thr853Ala)
c.2563A>G (p.Thr855Ala)
8g.115587117T>GCA372064814TRPS1c.2584A>C (p.Thr862Pro)
c.2545A>C (p.Thr849Pro)
c.1957A>C (p.Thr653Pro)
c.1807A>C (p.Thr603Pro)
c.2557A>C (p.Thr853Pro)
c.2563A>C (p.Thr855Pro)
8g.115587118T>ACA372064815TRPS1c.2583A>T (p.Glu861Asp)
c.2544A>T (p.Glu848Asp)
c.1956A>T (p.Glu652Asp)
c.1806A>T (p.Glu602Asp)
c.2556A>T (p.Glu852Asp)
c.2562A>T (p.Glu854Asp)
8g.115587118T>CCA462658654TRPS1c.2583A>G (p.Glu861=)
c.2544A>G (p.Glu848=)
c.1956A>G (p.Glu652=)
c.1806A>G (p.Glu602=)
c.2556A>G (p.Glu852=)
c.2562A>G (p.Glu854=)
8g.115587118T>GCA372064816TRPS1c.2583A>C (p.Glu861Asp)
c.2544A>C (p.Glu848Asp)
c.1956A>C (p.Glu652Asp)
c.1806A>C (p.Glu602Asp)
c.2556A>C (p.Glu852Asp)
c.2562A>C (p.Glu854Asp)
8g.115587119T>ACA372064817TRPS1c.2582A>T (p.Glu861Val)
c.2543A>T (p.Glu848Val)
c.1955A>T (p.Glu652Val)
c.1805A>T (p.Glu602Val)
c.2555A>T (p.Glu852Val)
c.2561A>T (p.Glu854Val)
8g.115587119T>CCA372064818TRPS1c.2582A>G (p.Glu861Gly)
c.2543A>G (p.Glu848Gly)
c.1955A>G (p.Glu652Gly)
c.1805A>G (p.Glu602Gly)
c.2555A>G (p.Glu852Gly)
c.2561A>G (p.Glu854Gly)
 dbSNP gnomAD v2
8g.115587119T>GCA372064819TRPS1c.2582A>C (p.Glu861Ala)
c.2543A>C (p.Glu848Ala)
c.1955A>C (p.Glu652Ala)
c.1805A>C (p.Glu602Ala)
c.2555A>C (p.Glu852Ala)
c.2561A>C (p.Glu854Ala)
8g.115587119T=CA1812945465TRPS1c.2582A= (p.Glu861=)
c.2543A= (p.Glu848=)
c.1955A= (p.Glu652=)
c.1805A= (p.Glu602=)
c.2555A= (p.Glu852=)
c.2561A= (p.Glu854=)
8g.115587120C>ACA372064822TRPS1c.2581G>T (p.Glu861Ter)
c.2542G>T (p.Glu848Ter)
c.1954G>T (p.Glu652Ter)
c.1804G>T (p.Glu602Ter)
c.2554G>T (p.Glu852Ter)
c.2560G>T (p.Glu854Ter)
8g.115587120C>GCA372064821TRPS1c.2581G>C (p.Glu861Gln)
c.2542G>C (p.Glu848Gln)
c.1954G>C (p.Glu652Gln)
c.1804G>C (p.Glu602Gln)
c.2554G>C (p.Glu852Gln)
c.2560G>C (p.Glu854Gln)
8g.115587120C>TCA372064820TRPS1c.2581G>A (p.Glu861Lys)
c.2542G>A (p.Glu848Lys)
c.1954G>A (p.Glu652Lys)
c.1804G>A (p.Glu602Lys)
c.2554G>A (p.Glu852Lys)
c.2560G>A (p.Glu854Lys)
8g.115587121dupCA184607525TRPS1c.2581dup (p.Glu861GlyfsTer?)
c.2542dup (p.Glu848GlyfsTer?)
c.1954dup (p.Glu652GlyfsTer?)
c.1804dup (p.Glu602GlyfsTer?)
c.2554dup (p.Glu852GlyfsTer?)
c.2560dup (p.Glu854GlyfsTer?)
 dbSNP
8g.115587121C>ACA462658660TRPS1c.2580G>T (p.Val860=)
c.2541G>T (p.Val847=)
c.1953G>T (p.Val651=)
c.1803G>T (p.Val601=)
c.2553G>T (p.Val851=)
c.2559G>T (p.Val853=)
8g.115587121C>GCA462658659TRPS1c.2580G>C (p.Val860=)
c.2541G>C (p.Val847=)
c.1953G>C (p.Val651=)
c.1803G>C (p.Val601=)
c.2553G>C (p.Val851=)
c.2559G>C (p.Val853=)
8g.115587121C>TCA462658658TRPS1c.2580G>A (p.Val860=)
c.2541G>A (p.Val847=)
c.1953G>A (p.Val651=)
c.1803G>A (p.Val601=)
c.2553G>A (p.Val851=)
c.2559G>A (p.Val853=)
8g.115587122A>CCA372064823TRPS1c.2579T>G (p.Val860Gly)
c.2540T>G (p.Val847Gly)
c.1952T>G (p.Val651Gly)
c.1802T>G (p.Val601Gly)
c.2552T>G (p.Val851Gly)
c.2558T>G (p.Val853Gly)
8g.115587122A>GCA372064824TRPS1c.2579T>C (p.Val860Ala)
c.2540T>C (p.Val847Ala)
c.1952T>C (p.Val651Ala)
c.1802T>C (p.Val601Ala)
c.2552T>C (p.Val851Ala)
c.2558T>C (p.Val853Ala)
 COSMIC COSMIC
8g.115587122A>TCA372064825TRPS1c.2579T>A (p.Val860Glu)
c.2540T>A (p.Val847Glu)
c.1952T>A (p.Val651Glu)
c.1802T>A (p.Val601Glu)
c.2552T>A (p.Val851Glu)
c.2558T>A (p.Val853Glu)
8g.115587123C>ACA372064826TRPS1c.2578G>T (p.Val860Leu)
c.2539G>T (p.Val847Leu)
c.1951G>T (p.Val651Leu)
c.1801G>T (p.Val601Leu)
c.2551G>T (p.Val851Leu)
c.2557G>T (p.Val853Leu)
 dbSNP gnomAD v2
8g.115587123C=CA1812945467TRPS1c.2578G= (p.Val860=)
c.2539G= (p.Val847=)
c.1951G= (p.Val651=)
c.1801G= (p.Val601=)
c.2551G= (p.Val851=)
c.2557G= (p.Val853=)
8g.115587123C>GCA372064827TRPS1c.2578G>C (p.Val860Leu)
c.2539G>C (p.Val847Leu)
c.1951G>C (p.Val651Leu)
c.1801G>C (p.Val601Leu)
c.2551G>C (p.Val851Leu)
c.2557G>C (p.Val853Leu)
8g.115587123C>TCA372064828TRPS1c.2578G>A (p.Val860Met)
c.2539G>A (p.Val847Met)
c.1951G>A (p.Val651Met)
c.1801G>A (p.Val601Met)
c.2551G>A (p.Val851Met)
c.2557G>A (p.Val853Met)
 gnomAD v4
8g.115587124A=CA1812945469TRPS1c.2577T= (p.Ala859=)
c.2538T= (p.Ala846=)
c.1950T= (p.Ala650=)
c.1800T= (p.Ala600=)
c.2550T= (p.Ala850=)
c.2556T= (p.Ala852=)
8g.115587124A>CCA4851631TRPS1c.2577T>G (p.Ala859=)
c.2538T>G (p.Ala846=)
c.1950T>G (p.Ala650=)
c.1800T>G (p.Ala600=)
c.2550T>G (p.Ala850=)
c.2556T>G (p.Ala852=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587124A>GCA4851630TRPS1c.2577T>C (p.Ala859=)
c.2538T>C (p.Ala846=)
c.1950T>C (p.Ala650=)
c.1800T>C (p.Ala600=)
c.2550T>C (p.Ala850=)
c.2556T>C (p.Ala852=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587124A>TCA462658664TRPS1c.2577T>A (p.Ala859=)
c.2538T>A (p.Ala846=)
c.1950T>A (p.Ala650=)
c.1800T>A (p.Ala600=)
c.2550T>A (p.Ala850=)
c.2556T>A (p.Ala852=)
8g.115587125G>ACA372064830TRPS1c.2576C>T (p.Ala859Val)
c.2537C>T (p.Ala846Val)
c.1949C>T (p.Ala650Val)
c.1799C>T (p.Ala600Val)
c.2549C>T (p.Ala850Val)
c.2555C>T (p.Ala852Val)
8g.115587125G>CCA372064831TRPS1c.2576C>G (p.Ala859Gly)
c.2537C>G (p.Ala846Gly)
c.1949C>G (p.Ala650Gly)
c.1799C>G (p.Ala600Gly)
c.2549C>G (p.Ala850Gly)
c.2555C>G (p.Ala852Gly)
8g.115587125G>TCA372064829TRPS1c.2576C>A (p.Ala859Asp)
c.2537C>A (p.Ala846Asp)
c.1949C>A (p.Ala650Asp)
c.1799C>A (p.Ala600Asp)
c.2549C>A (p.Ala850Asp)
c.2555C>A (p.Ala852Asp)
8g.115587126C>ACA372064832TRPS1c.2575G>T (p.Ala859Ser)
c.2536G>T (p.Ala846Ser)
c.1948G>T (p.Ala650Ser)
c.1798G>T (p.Ala600Ser)
c.2548G>T (p.Ala850Ser)
c.2554G>T (p.Ala852Ser)
 gnomAD v4
8g.115587126C>GCA372064833TRPS1c.2575G>C (p.Ala859Pro)
c.2536G>C (p.Ala846Pro)
c.1948G>C (p.Ala650Pro)
c.1798G>C (p.Ala600Pro)
c.2548G>C (p.Ala850Pro)
c.2554G>C (p.Ala852Pro)
8g.115587126C>TCA372064834TRPS1c.2575G>A (p.Ala859Thr)
c.2536G>A (p.Ala846Thr)
c.1948G>A (p.Ala650Thr)
c.1798G>A (p.Ala600Thr)
c.2548G>A (p.Ala850Thr)
c.2554G>A (p.Ala852Thr)
8g.115587127C>ACA4851632TRPS1c.2574G>T (p.Leu858Phe)
c.2535G>T (p.Leu845Phe)
c.1947G>T (p.Leu649Phe)
c.1797G>T (p.Leu599Phe)
c.2547G>T (p.Leu849Phe)
c.2553G>T (p.Leu851Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587127C=CA1812945472TRPS1c.2574G= (p.Leu858=)
c.2535G= (p.Leu845=)
c.1947G= (p.Leu649=)
c.1797G= (p.Leu599=)
c.2547G= (p.Leu849=)
c.2553G= (p.Leu851=)
8g.115587127C>GCA372064835TRPS1c.2574G>C (p.Leu858Phe)
c.2535G>C (p.Leu845Phe)
c.1947G>C (p.Leu649Phe)
c.1797G>C (p.Leu599Phe)
c.2547G>C (p.Leu849Phe)
c.2553G>C (p.Leu851Phe)
8g.115587127C>TCA462658668TRPS1c.2574G>A (p.Leu858=)
c.2535G>A (p.Leu845=)
c.1947G>A (p.Leu649=)
c.1797G>A (p.Leu599=)
c.2547G>A (p.Leu849=)
c.2553G>A (p.Leu851=)
8g.115587128A=CA1812945475TRPS1c.2573T= (p.Leu858=)
c.2534T= (p.Leu845=)
c.1946T= (p.Leu649=)
c.1796T= (p.Leu599=)
c.2546T= (p.Leu849=)
c.2552T= (p.Leu851=)
8g.115587128A>CCA372064837TRPS1c.2573T>G (p.Leu858Trp)
c.2534T>G (p.Leu845Trp)
c.1946T>G (p.Leu649Trp)
c.1796T>G (p.Leu599Trp)
c.2546T>G (p.Leu849Trp)
c.2552T>G (p.Leu851Trp)
8g.115587128A>GCA184607547TRPS1c.2573T>C (p.Leu858Ser)
c.2534T>C (p.Leu845Ser)
c.1946T>C (p.Leu649Ser)
c.1796T>C (p.Leu599Ser)
c.2546T>C (p.Leu849Ser)
c.2552T>C (p.Leu851Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115587128A>TCA372064836TRPS1c.2573T>A (p.Leu858Ter)
c.2534T>A (p.Leu845Ter)
c.1946T>A (p.Leu649Ter)
c.1796T>A (p.Leu599Ter)
c.2546T>A (p.Leu849Ter)
c.2552T>A (p.Leu851Ter)
8g.115587129A=CA1812945477TRPS1c.2572T= (p.Leu858=)
c.2533T= (p.Leu845=)
c.1945T= (p.Leu649=)
c.1795T= (p.Leu599=)
c.2545T= (p.Leu849=)
c.2551T= (p.Leu851=)
8g.115587129A>CCA372064838TRPS1c.2572T>G (p.Leu858Val)
c.2533T>G (p.Leu845Val)
c.1945T>G (p.Leu649Val)
c.1795T>G (p.Leu599Val)
c.2545T>G (p.Leu849Val)
c.2551T>G (p.Leu851Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.115587129A>GCA462658669TRPS1c.2572T>C (p.Leu858=)
c.2533T>C (p.Leu845=)
c.1945T>C (p.Leu649=)
c.1795T>C (p.Leu599=)
c.2545T>C (p.Leu849=)
c.2551T>C (p.Leu851=)
8g.115587129A>TCA372064839TRPS1c.2572T>A (p.Leu858Met)
c.2533T>A (p.Leu845Met)
c.1945T>A (p.Leu649Met)
c.1795T>A (p.Leu599Met)
c.2545T>A (p.Leu849Met)
c.2551T>A (p.Leu851Met)
8g.115587130G>ACA462658670TRPS1c.2571C>T (p.Gly857=)
c.2532C>T (p.Gly844=)
c.1944C>T (p.Gly648=)
c.1794C>T (p.Gly598=)
c.2544C>T (p.Gly848=)
c.2550C>T (p.Gly850=)
 dbSNP gnomAD v2 gnomAD v4
8g.115587130G>CCA462658671TRPS1c.2571C>G (p.Gly857=)
c.2532C>G (p.Gly844=)
c.1944C>G (p.Gly648=)
c.1794C>G (p.Gly598=)
c.2544C>G (p.Gly848=)
c.2550C>G (p.Gly850=)
8g.115587130G=CA1812945480TRPS1c.2571C= (p.Gly857=)
c.2532C= (p.Gly844=)
c.1944C= (p.Gly648=)
c.1794C= (p.Gly598=)
c.2544C= (p.Gly848=)
c.2550C= (p.Gly850=)
8g.115587130G>TCA462658672TRPS1c.2571C>A (p.Gly857=)
c.2532C>A (p.Gly844=)
c.1944C>A (p.Gly648=)
c.1794C>A (p.Gly598=)
c.2544C>A (p.Gly848=)
c.2550C>A (p.Gly850=)
8g.115587131C>ACA372064840TRPS1c.2570G>T (p.Gly857Val)
c.2531G>T (p.Gly844Val)
c.1943G>T (p.Gly648Val)
c.1793G>T (p.Gly598Val)
c.2543G>T (p.Gly848Val)
c.2549G>T (p.Gly850Val)
 gnomAD v4
8g.115587131C>GCA372064841TRPS1c.2570G>C (p.Gly857Ala)
c.2531G>C (p.Gly844Ala)
c.1943G>C (p.Gly648Ala)
c.1793G>C (p.Gly598Ala)
c.2543G>C (p.Gly848Ala)
c.2549G>C (p.Gly850Ala)
8g.115587131C>TCA372064842TRPS1c.2570G>A (p.Gly857Asp)
c.2531G>A (p.Gly844Asp)
c.1943G>A (p.Gly648Asp)
c.1793G>A (p.Gly598Asp)
c.2543G>A (p.Gly848Asp)
c.2549G>A (p.Gly850Asp)
8g.115587132C>ACA372064843TRPS1c.2569G>T (p.Gly857Cys)
c.2530G>T (p.Gly844Cys)
c.1942G>T (p.Gly648Cys)
c.1792G>T (p.Gly598Cys)
c.2542G>T (p.Gly848Cys)
c.2548G>T (p.Gly850Cys)
8g.115587132C>GCA372064845TRPS1c.2569G>C (p.Gly857Arg)
c.2530G>C (p.Gly844Arg)
c.1942G>C (p.Gly648Arg)
c.1792G>C (p.Gly598Arg)
c.2542G>C (p.Gly848Arg)
c.2548G>C (p.Gly850Arg)
8g.115587132C>TCA372064844TRPS1c.2569G>A (p.Gly857Ser)
c.2530G>A (p.Gly844Ser)
c.1942G>A (p.Gly648Ser)
c.1792G>A (p.Gly598Ser)
c.2542G>A (p.Gly848Ser)
c.2548G>A (p.Gly850Ser)
 gnomAD v4
8g.115587133A=CA1812945486TRPS1c.2568T= (p.Tyr856=)
c.2529T= (p.Tyr843=)
c.1941T= (p.Tyr647=)
c.1791T= (p.Tyr597=)
c.2541T= (p.Tyr847=)
c.2547T= (p.Tyr849=)
8g.115587133A>CCA372064846TRPS1c.2568T>G (p.Tyr856Ter)
c.2529T>G (p.Tyr843Ter)
c.1941T>G (p.Tyr647Ter)
c.1791T>G (p.Tyr597Ter)
c.2541T>G (p.Tyr847Ter)
c.2547T>G (p.Tyr849Ter)
 ClinVar dbSNP
8g.115587133A>GCA462658676TRPS1c.2568T>C (p.Tyr856=)
c.2529T>C (p.Tyr843=)
c.1941T>C (p.Tyr647=)
c.1791T>C (p.Tyr597=)
c.2541T>C (p.Tyr847=)
c.2547T>C (p.Tyr849=)
8g.115587133A>TCA372064847TRPS1c.2568T>A (p.Tyr856Ter)
c.2529T>A (p.Tyr843Ter)
c.1941T>A (p.Tyr647Ter)
c.1791T>A (p.Tyr597Ter)
c.2541T>A (p.Tyr847Ter)
c.2547T>A (p.Tyr849Ter)
8g.115587134T>ACA372064848TRPS1c.2567A>T (p.Tyr856Phe)
c.2528A>T (p.Tyr843Phe)
c.1940A>T (p.Tyr647Phe)
c.1790A>T (p.Tyr597Phe)
c.2540A>T (p.Tyr847Phe)
c.2546A>T (p.Tyr849Phe)
8g.115587134T>CCA372064849TRPS1c.2567A>G (p.Tyr856Cys)
c.2528A>G (p.Tyr843Cys)
c.1940A>G (p.Tyr647Cys)
c.1790A>G (p.Tyr597Cys)
c.2540A>G (p.Tyr847Cys)
c.2546A>G (p.Tyr849Cys)
8g.115587134T>GCA372064850TRPS1c.2567A>C (p.Tyr856Ser)
c.2528A>C (p.Tyr843Ser)
c.1940A>C (p.Tyr647Ser)
c.1790A>C (p.Tyr597Ser)
c.2540A>C (p.Tyr847Ser)
c.2546A>C (p.Tyr849Ser)
8g.115587135A>CCA372064851TRPS1c.2566T>G (p.Tyr856Asp)
c.2527T>G (p.Tyr843Asp)
c.1939T>G (p.Tyr647Asp)
c.1789T>G (p.Tyr597Asp)
c.2539T>G (p.Tyr847Asp)
c.2545T>G (p.Tyr849Asp)
8g.115587135A>GCA372064852TRPS1c.2566T>C (p.Tyr856His)
c.2527T>C (p.Tyr843His)
c.1939T>C (p.Tyr647His)
c.1789T>C (p.Tyr597His)
c.2539T>C (p.Tyr847His)
c.2545T>C (p.Tyr849His)
8g.115587135A>TCA372064853TRPS1c.2566T>A (p.Tyr856Asn)
c.2527T>A (p.Tyr843Asn)
c.1939T>A (p.Tyr647Asn)
c.1789T>A (p.Tyr597Asn)
c.2539T>A (p.Tyr847Asn)
c.2545T>A (p.Tyr849Asn)
 gnomAD v4
8g.115587136A>CCA372064854TRPS1c.2565T>G (p.Ile855Met)
c.2526T>G (p.Ile842Met)
c.1938T>G (p.Ile646Met)
c.1788T>G (p.Ile596Met)
c.2538T>G (p.Ile846Met)
c.2544T>G (p.Ile848Met)
8g.115587136A>GCA462658680TRPS1c.2565T>C (p.Ile855=)
c.2526T>C (p.Ile842=)
c.1938T>C (p.Ile646=)
c.1788T>C (p.Ile596=)
c.2538T>C (p.Ile846=)
c.2544T>C (p.Ile848=)
8g.115587136A>TCA462658681TRPS1c.2565T>A (p.Ile855=)
c.2526T>A (p.Ile842=)
c.1938T>A (p.Ile646=)
c.1788T>A (p.Ile596=)
c.2538T>A (p.Ile846=)
c.2544T>A (p.Ile848=)
8g.115587137A=CA1812945491TRPS1c.2564T= (p.Ile855=)
c.2525T= (p.Ile842=)
c.1937T= (p.Ile646=)
c.1787T= (p.Ile596=)
c.2537T= (p.Ile846=)
c.2543T= (p.Ile848=)
8g.115587137A>CCA372064855TRPS1c.2564T>G (p.Ile855Ser)
c.2525T>G (p.Ile842Ser)
c.1937T>G (p.Ile646Ser)
c.1787T>G (p.Ile596Ser)
c.2537T>G (p.Ile846Ser)
c.2543T>G (p.Ile848Ser)
8g.115587137A>GCA184607548TRPS1c.2564T>C (p.Ile855Thr)
c.2525T>C (p.Ile842Thr)
c.1937T>C (p.Ile646Thr)
c.1787T>C (p.Ile596Thr)
c.2537T>C (p.Ile846Thr)
c.2543T>C (p.Ile848Thr)
 dbSNP
8g.115587137A>TCA372064856TRPS1c.2564T>A (p.Ile855Asn)
c.2525T>A (p.Ile842Asn)
c.1937T>A (p.Ile646Asn)
c.1787T>A (p.Ile596Asn)
c.2537T>A (p.Ile846Asn)
c.2543T>A (p.Ile848Asn)
8g.115587138T>ACA4851633TRPS1c.2563A>T (p.Ile855Phe)
c.2524A>T (p.Ile842Phe)
c.1936A>T (p.Ile646Phe)
c.1786A>T (p.Ile596Phe)
c.2536A>T (p.Ile846Phe)
c.2542A>T (p.Ile848Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587138T>CCA372064858TRPS1c.2563A>G (p.Ile855Val)
c.2524A>G (p.Ile842Val)
c.1936A>G (p.Ile646Val)
c.1786A>G (p.Ile596Val)
c.2536A>G (p.Ile846Val)
c.2542A>G (p.Ile848Val)
 dbSNP gnomAD v4
8g.115587138T>GCA372064857TRPS1c.2563A>C (p.Ile855Leu)
c.2524A>C (p.Ile842Leu)
c.1936A>C (p.Ile646Leu)
c.1786A>C (p.Ile596Leu)
c.2536A>C (p.Ile846Leu)
c.2542A>C (p.Ile848Leu)
8g.115587138T=CA1812945496TRPS1c.2563A= (p.Ile855=)
c.2524A= (p.Ile842=)
c.1936A= (p.Ile646=)
c.1786A= (p.Ile596=)
c.2536A= (p.Ile846=)
c.2542A= (p.Ile848=)
8g.115587139A=CA1812945500TRPS1c.2562T= (p.Pro854=)
c.2523T= (p.Pro841=)
c.1935T= (p.Pro645=)
c.1785T= (p.Pro595=)
c.2535T= (p.Pro845=)
c.2541T= (p.Pro847=)
8g.115587139A>CCA462658687TRPS1c.2562T>G (p.Pro854=)
c.2523T>G (p.Pro841=)
c.1935T>G (p.Pro645=)
c.1785T>G (p.Pro595=)
c.2535T>G (p.Pro845=)
c.2541T>G (p.Pro847=)
 dbSNP gnomAD v2 gnomAD v4
8g.115587139A>GCA462658688TRPS1c.2562T>C (p.Pro854=)
c.2523T>C (p.Pro841=)
c.1935T>C (p.Pro645=)
c.1785T>C (p.Pro595=)
c.2535T>C (p.Pro845=)
c.2541T>C (p.Pro847=)
8g.115587139A>TCA462658689TRPS1c.2562T>A (p.Pro854=)
c.2523T>A (p.Pro841=)
c.1935T>A (p.Pro645=)
c.1785T>A (p.Pro595=)
c.2535T>A (p.Pro845=)
c.2541T>A (p.Pro847=)
8g.115587140G>ACA372064860TRPS1c.2561C>T (p.Pro854Leu)
c.2522C>T (p.Pro841Leu)
c.1934C>T (p.Pro645Leu)
c.1784C>T (p.Pro595Leu)
c.2534C>T (p.Pro845Leu)
c.2540C>T (p.Pro847Leu)
8g.115587140G>CCA4851634TRPS1c.2561C>G (p.Pro854Arg)
c.2522C>G (p.Pro841Arg)
c.1934C>G (p.Pro645Arg)
c.1784C>G (p.Pro595Arg)
c.2534C>G (p.Pro845Arg)
c.2540C>G (p.Pro847Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587140G=CA1812945503TRPS1c.2561C= (p.Pro854=)
c.2522C= (p.Pro841=)
c.1934C= (p.Pro645=)
c.1784C= (p.Pro595=)
c.2534C= (p.Pro845=)
c.2540C= (p.Pro847=)
8g.115587140G>TCA372064859TRPS1c.2561C>A (p.Pro854His)
c.2522C>A (p.Pro841His)
c.1934C>A (p.Pro645His)
c.1784C>A (p.Pro595His)
c.2534C>A (p.Pro845His)
c.2540C>A (p.Pro847His)
 dbSNP
8g.115587141G>ACA372064861TRPS1c.2560C>T (p.Pro854Ser)
c.2521C>T (p.Pro841Ser)
c.1933C>T (p.Pro645Ser)
c.1783C>T (p.Pro595Ser)
c.2533C>T (p.Pro845Ser)
c.2539C>T (p.Pro847Ser)
 gnomAD v4
8g.115587141G>CCA372064862TRPS1c.2560C>G (p.Pro854Ala)
c.2521C>G (p.Pro841Ala)
c.1933C>G (p.Pro645Ala)
c.1783C>G (p.Pro595Ala)
c.2533C>G (p.Pro845Ala)
c.2539C>G (p.Pro847Ala)
8g.115587141G>TCA372064863TRPS1c.2560C>A (p.Pro854Thr)
c.2521C>A (p.Pro841Thr)
c.1933C>A (p.Pro645Thr)
c.1783C>A (p.Pro595Thr)
c.2533C>A (p.Pro845Thr)
c.2539C>A (p.Pro847Thr)
8g.115587142T>ACA462658694TRPS1c.2559A>T (p.Arg853=)
c.2520A>T (p.Arg840=)
c.1932A>T (p.Arg644=)
c.1782A>T (p.Arg594=)
c.2532A>T (p.Arg844=)
c.2538A>T (p.Arg846=)
 gnomAD v4
8g.115587142T>CCA462658696TRPS1c.2559A>G (p.Arg853=)
c.2520A>G (p.Arg840=)
c.1932A>G (p.Arg644=)
c.1782A>G (p.Arg594=)
c.2532A>G (p.Arg844=)
c.2538A>G (p.Arg846=)
8g.115587142T>GCA4851635TRPS1c.2559A>C (p.Arg853=)
c.2520A>C (p.Arg840=)
c.1932A>C (p.Arg644=)
c.1782A>C (p.Arg594=)
c.2532A>C (p.Arg844=)
c.2538A>C (p.Arg846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115587142T=CA1812945507TRPS1c.2559A= (p.Arg853=)
c.2520A= (p.Arg840=)
c.1932A= (p.Arg644=)
c.1782A= (p.Arg594=)
c.2532A= (p.Arg844=)
c.2538A= (p.Arg846=)
8g.115587143C>ACA372064866TRPS1c.2558G>T (p.Arg853Leu)
c.2519G>T (p.Arg840Leu)
c.1931G>T (p.Arg644Leu)
c.1781G>T (p.Arg594Leu)
c.2531G>T (p.Arg844Leu)
c.2537G>T (p.Arg846Leu)
 gnomAD v4 COSMIC COSMIC
8g.115587143C=CA1812945511TRPS1c.2558G= (p.Arg853=)
c.2519G= (p.Arg840=)
c.1931G= (p.Arg644=)
c.1781G= (p.Arg594=)
c.2531G= (p.Arg844=)
c.2537G= (p.Arg846=)
8g.115587143C>GCA372064864TRPS1c.2558G>C (p.Arg853Pro)
c.2519G>C (p.Arg840Pro)
c.1931G>C (p.Arg644Pro)
c.1781G>C (p.Arg594Pro)
c.2531G>C (p.Arg844Pro)
c.2537G>C (p.Arg846Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115587143C>TCA372064865TRPS1c.2558G>A (p.Arg853Gln)
c.2519G>A (p.Arg840Gln)
c.1931G>A (p.Arg644Gln)
c.1781G>A (p.Arg594Gln)
c.2531G>A (p.Arg844Gln)
c.2537G>A (p.Arg846Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.115587144G>ACA117608TRPS1c.2557C>T (p.Arg853Ter)
c.2518C>T (p.Arg840Ter)
c.1930C>T (p.Arg644Ter)
c.1780C>T (p.Arg594Ter)
c.2530C>T (p.Arg844Ter)
c.2536C>T (p.Arg846Ter)
 ClinVar dbSNP COSMIC COSMIC
8g.115587144G>CCA372064867TRPS1c.2557C>G (p.Arg853Gly)
c.2518C>G (p.Arg840Gly)
c.1930C>G (p.Arg644Gly)
c.1780C>G (p.Arg594Gly)
c.2530C>G (p.Arg844Gly)
c.2536C>G (p.Arg846Gly)
 gnomAD v4
8g.115587144G=CA1812945522TRPS1c.2557C= (p.Arg853=)
c.2518C= (p.Arg840=)
c.1930C= (p.Arg644=)
c.1780C= (p.Arg594=)
c.2530C= (p.Arg844=)
c.2536C= (p.Arg846=)
8g.115587144G>TCA462658698TRPS1c.2557C>A (p.Arg853=)
c.2518C>A (p.Arg840=)
c.1930C>A (p.Arg644=)
c.1780C>A (p.Arg594=)
c.2530C>A (p.Arg844=)
c.2536C>A (p.Arg846=)
8g.115587145C>ACA462658702TRPS1c.2556G>T (p.Ala852=)
c.2517G>T (p.Ala839=)
c.1929G>T (p.Ala643=)
c.1779G>T (p.Ala593=)
c.2529G>T (p.Ala843=)
c.2535G>T (p.Ala845=)
 COSMIC COSMIC
8g.115587145C=CA1812945528TRPS1c.2556G= (p.Ala852=)
c.2517G= (p.Ala839=)
c.1929G= (p.Ala643=)
c.1779G= (p.Ala593=)
c.2529G= (p.Ala843=)
c.2535G= (p.Ala845=)
8g.115587145C>GCA462658700TRPS1c.2556G>C (p.Ala852=)
c.2517G>C (p.Ala839=)
c.1929G>C (p.Ala643=)
c.1779G>C (p.Ala593=)
c.2529G>C (p.Ala843=)
c.2535G>C (p.Ala845=)
8g.115587145C>TCA462658701TRPS1c.2556G>A (p.Ala852=)
c.2517G>A (p.Ala839=)
c.1929G>A (p.Ala643=)
c.1779G>A (p.Ala593=)
c.2529G>A (p.Ala843=)
c.2535G>A (p.Ala845=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115587146G>ACA372064868TRPS1c.2555C>T (p.Ala852Val)
c.2516C>T (p.Ala839Val)
c.1928C>T (p.Ala643Val)
c.1778C>T (p.Ala593Val)
c.2528C>T (p.Ala843Val)
c.2534C>T (p.Ala845Val)
 gnomAD v4 COSMIC COSMIC
8g.115587146G>CCA372064869TRPS1c.2555C>G (p.Ala852Gly)
c.2516C>G (p.Ala839Gly)
c.1928C>G (p.Ala643Gly)
c.1778C>G (p.Ala593Gly)
c.2528C>G (p.Ala843Gly)
c.2534C>G (p.Ala845Gly)
8g.115587146G=CA1812945532TRPS1c.2555C= (p.Ala852=)
c.2516C= (p.Ala839=)
c.1928C= (p.Ala643=)
c.1778C= (p.Ala593=)
c.2528C= (p.Ala843=)
c.2534C= (p.Ala845=)
8g.115587146G>TCA184607563TRPS1c.2555C>A (p.Ala852Glu)
c.2516C>A (p.Ala839Glu)
c.1928C>A (p.Ala643Glu)
c.1778C>A (p.Ala593Glu)
c.2528C>A (p.Ala843Glu)
c.2534C>A (p.Ala845Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.115587147C>ACA372064871TRPS1c.2554G>T (p.Ala852Ser)
c.2515G>T (p.Ala839Ser)
c.1927G>T (p.Ala643Ser)
c.1777G>T (p.Ala593Ser)
c.2527G>T (p.Ala843Ser)
c.2533G>T (p.Ala845Ser)
8g.115587147C=CA1812945536TRPS1c.2554G= (p.Ala852=)
c.2515G= (p.Ala839=)
c.1927G= (p.Ala643=)
c.1777G= (p.Ala593=)
c.2527G= (p.Ala843=)
c.2533G= (p.Ala845=)
8g.115587147C>GCA372064870TRPS1c.2554G>C (p.Ala852Pro)
c.2515G>C (p.Ala839Pro)
c.1927G>C (p.Ala643Pro)
c.1777G>C (p.Ala593Pro)
c.2527G>C (p.Ala843Pro)
c.2533G>C (p.Ala845Pro)
8g.115587147C>TCA4851636TRPS1c.2554G>A (p.Ala852Thr)
c.2515G>A (p.Ala839Thr)
c.1927G>A (p.Ala643Thr)
c.1777G>A (p.Ala593Thr)
c.2527G>A (p.Ala843Thr)
c.2533G>A (p.Ala845Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115587148C>ACA184607571TRPS1c.2553G>T (p.Leu851=)
c.2514G>T (p.Leu838=)
c.1926G>T (p.Leu642=)
c.1776G>T (p.Leu592=)
c.2526G>T (p.Leu842=)
c.2532G>T (p.Leu844=)
 dbSNP
8g.115587148C=CA1812945540TRPS1c.2553G= (p.Leu851=)
c.2514G= (p.Leu838=)
c.1926G= (p.Leu642=)
c.1776G= (p.Leu592=)
c.2526G= (p.Leu842=)
c.2532G= (p.Leu844=)
8g.115587148C>GCA462658708TRPS1c.2553G>C (p.Leu851=)
c.2514G>C (p.Leu838=)
c.1926G>C (p.Leu642=)
c.1776G>C (p.Leu592=)
c.2526G>C (p.Leu842=)
c.2532G>C (p.Leu844=)
8g.115587148C>TCA462658707TRPS1c.2553G>A (p.Leu851=)
c.2514G>A (p.Leu838=)
c.1926G>A (p.Leu642=)
c.1776G>A (p.Leu592=)
c.2526G>A (p.Leu842=)
c.2532G>A (p.Leu844=)
8g.115587149A>CCA372064872TRPS1c.2552T>G (p.Leu851Arg)
c.2513T>G (p.Leu838Arg)
c.1925T>G (p.Leu642Arg)
c.1775T>G (p.Leu592Arg)
c.2525T>G (p.Leu842Arg)
c.2531T>G (p.Leu844Arg)
8g.115587149A>GCA372064873TRPS1c.2552T>C (p.Leu851Pro)
c.2513T>C (p.Leu838Pro)
c.1925T>C (p.Leu642Pro)
c.1775T>C (p.Leu592Pro)
c.2525T>C (p.Leu842Pro)
c.2531T>C (p.Leu844Pro)
 gnomAD v4
8g.115587149A>TCA372064874TRPS1c.2552T>A (p.Leu851Gln)
c.2513T>A (p.Leu838Gln)
c.1925T>A (p.Leu642Gln)
c.1775T>A (p.Leu592Gln)
c.2525T>A (p.Leu842Gln)
c.2531T>A (p.Leu844Gln)
8g.115587150G>ACA462658710TRPS1c.2551C>T (p.Leu851=)
c.2512C>T (p.Leu838=)
c.1924C>T (p.Leu642=)
c.1774C>T (p.Leu592=)
c.2524C>T (p.Leu842=)
c.2530C>T (p.Leu844=)
8g.115587150G>CCA372064875TRPS1c.2551C>G (p.Leu851Val)
c.2512C>G (p.Leu838Val)
c.1924C>G (p.Leu642Val)
c.1774C>G (p.Leu592Val)
c.2524C>G (p.Leu842Val)
c.2530C>G (p.Leu844Val)
 dbSNP gnomAD v3 gnomAD v4
8g.115587150G=CA1812945544TRPS1c.2551C= (p.Leu851=)
c.2512C= (p.Leu838=)
c.1924C= (p.Leu642=)
c.1774C= (p.Leu592=)
c.2524C= (p.Leu842=)
c.2530C= (p.Leu844=)
8g.115587150G>TCA372064876TRPS1c.2551C>A (p.Leu851Met)
c.2512C>A (p.Leu838Met)
c.1924C>A (p.Leu642Met)
c.1774C>A (p.Leu592Met)
c.2524C>A (p.Leu842Met)
c.2530C>A (p.Leu844Met)
8g.115587151A>CCA372064877TRPS1c.2550T>G (p.His850Gln)
c.2511T>G (p.His837Gln)
c.1923T>G (p.His641Gln)
c.1773T>G (p.His591Gln)
c.2523T>G (p.His841Gln)
c.2529T>G (p.His843Gln)
8g.115587151A>GCA462658713TRPS1c.2550T>C (p.His850=)
c.2511T>C (p.His837=)
c.1923T>C (p.His641=)
c.1773T>C (p.His591=)
c.2523T>C (p.His841=)
c.2529T>C (p.His843=)
8g.115587151A>TCA372064878TRPS1c.2550T>A (p.His850Gln)
c.2511T>A (p.His837Gln)
c.1923T>A (p.His641Gln)
c.1773T>A (p.His591Gln)
c.2523T>A (p.His841Gln)
c.2529T>A (p.His843Gln)
8g.115587152T>ACA372064879TRPS1c.2549A>T (p.His850Leu)
c.2510A>T (p.His837Leu)
c.1922A>T (p.His641Leu)
c.1772A>T (p.His591Leu)
c.2522A>T (p.His841Leu)
c.2528A>T (p.His843Leu)
8g.115587152T>CCA372064880TRPS1c.2549A>G (p.His850Arg)
c.2510A>G (p.His837Arg)
c.1922A>G (p.His641Arg)
c.1772A>G (p.His591Arg)
c.2522A>G (p.His841Arg)
c.2528A>G (p.His843Arg)
 gnomAD v4
8g.115587152T>GCA372064881TRPS1c.2549A>C (p.His850Pro)
c.2510A>C (p.His837Pro)
c.1922A>C (p.His641Pro)
c.1772A>C (p.His591Pro)
c.2522A>C (p.His841Pro)
c.2528A>C (p.His843Pro)

Number of alleles fetched