Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.115587050G>A | CA372064679 | TRPS1 | c.2651C>T (p.Pro884Leu) c.2612C>T (p.Pro871Leu) c.2024C>T (p.Pro675Leu) c.1874C>T (p.Pro625Leu) c.2624C>T (p.Pro875Leu) c.2630C>T (p.Pro877Leu) | dbSNP |
8 | g.115587050G>C | CA372064678 | TRPS1 | c.2651C>G (p.Pro884Arg) c.2612C>G (p.Pro871Arg) c.2024C>G (p.Pro675Arg) c.1874C>G (p.Pro625Arg) c.2624C>G (p.Pro875Arg) c.2630C>G (p.Pro877Arg) | gnomAD v4 |
8 | g.115587050G= | CA1812945333 | TRPS1 | c.2651C= (p.Pro884=) c.2612C= (p.Pro871=) c.2024C= (p.Pro675=) c.1874C= (p.Pro625=) c.2624C= (p.Pro875=) c.2630C= (p.Pro877=) | |
8 | g.115587050G>T | CA372064677 | TRPS1 | c.2651C>A (p.Pro884His) c.2612C>A (p.Pro871His) c.2024C>A (p.Pro675His) c.1874C>A (p.Pro625His) c.2624C>A (p.Pro875His) c.2630C>A (p.Pro877His) | |
8 | g.115587051G>A | CA372064680 | TRPS1 | c.2650C>T (p.Pro884Ser) c.2611C>T (p.Pro871Ser) c.2023C>T (p.Pro675Ser) c.1873C>T (p.Pro625Ser) c.2623C>T (p.Pro875Ser) c.2629C>T (p.Pro877Ser) | ClinVar dbSNP |
8 | g.115587051G>C | CA372064681 | TRPS1 | c.2650C>G (p.Pro884Ala) c.2611C>G (p.Pro871Ala) c.2023C>G (p.Pro675Ala) c.1873C>G (p.Pro625Ala) c.2623C>G (p.Pro875Ala) c.2629C>G (p.Pro877Ala) | |
8 | g.115587051G>T | CA372064682 | TRPS1 | c.2650C>A (p.Pro884Thr) c.2611C>A (p.Pro871Thr) c.2023C>A (p.Pro675Thr) c.1873C>A (p.Pro625Thr) c.2623C>A (p.Pro875Thr) c.2629C>A (p.Pro877Thr) | |
8 | g.115587052A>C | CA372064683 | TRPS1 | c.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) | |
8 | g.115587052A>G | CA462658562 | TRPS1 | c.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 |
8 | g.115587052A>T | CA372064684 | TRPS1 | c.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) | |
8 | g.115587053T>A | CA372064685 | TRPS1 | c.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) | |
8 | g.115587053T>C | CA372064686 | TRPS1 | c.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 |
8 | g.115587053T>G | CA372064687 | TRPS1 | c.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) | |
8 | g.115587054A= | CA1812945336 | TRPS1 | c.2647T= (p.Tyr883=) c.2608T= (p.Tyr870=) c.2020T= (p.Tyr674=) c.1870T= (p.Tyr624=) c.2620T= (p.Tyr874=) c.2626T= (p.Tyr876=) | |
8 | g.115587054A>C | CA372064688 | TRPS1 | c.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) | |
8 | g.115587054A>G | CA372064689 | TRPS1 | c.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) | |
8 | g.115587054A>T | CA184607462 | TRPS1 | c.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 |
8 | g.115587055C>A | CA372064690 | TRPS1 | c.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) | |
8 | g.115587055C>G | CA372064691 | TRPS1 | c.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) | |
8 | g.115587055C>T | CA462658564 | TRPS1 | c.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=) | |
8 | g.115587056T>A | CA372064693 | TRPS1 | c.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) | |
8 | g.115587056T>C | CA4851616 | TRPS1 | c.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 |
8 | g.115587056T>G | CA372064692 | TRPS1 | c.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) | |
8 | g.115587056T= | CA1812945341 | TRPS1 | c.2645A= (p.Gln882=) c.2606A= (p.Gln869=) c.2018A= (p.Gln673=) c.1868A= (p.Gln623=) c.2618A= (p.Gln873=) c.2624A= (p.Gln875=) | |
8 | g.115587057G>A | CA372064694 | TRPS1 | c.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) | |
8 | g.115587057G>C | CA372064696 | TRPS1 | c.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) | |
8 | g.115587057G>T | CA372064695 | TRPS1 | c.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 |
8 | g.115587058C>A | CA372064697 | TRPS1 | c.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) | |
8 | g.115587058C>G | CA372064698 | TRPS1 | c.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) | |
8 | g.115587058C>T | CA462658566 | TRPS1 | c.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=) | |
8 | g.115587059T>A | CA372064699 | TRPS1 | c.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) | |
8 | g.115587059T>C | CA372064700 | TRPS1 | c.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 |
8 | g.115587059T>G | CA372064701 | TRPS1 | c.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) | |
8 | g.115587060G>A | CA372064702 | TRPS1 | c.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 |
8 | g.115587060G>C | CA372064703 | TRPS1 | c.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 |
8 | g.115587060G= | CA1812945346 | TRPS1 | c.2641C= (p.Gln881=) c.2602C= (p.Gln868=) c.2014C= (p.Gln672=) c.1864C= (p.Gln622=) c.2614C= (p.Gln872=) c.2620C= (p.Gln874=) | |
8 | g.115587060G>T | CA372064704 | TRPS1 | c.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) | |
8 | g.115587064dup | CA2695210056 | TRPS1 | c.2641dup (p.Gln881ProfsTer14) c.2602dup (p.Gln868ProfsTer14) c.2014dup (p.Gln672ProfsTer14) c.1864dup (p.Gln622ProfsTer14) c.2614dup (p.Gln872ProfsTer14) c.2620dup (p.Gln874ProfsTer14) | |
8 | g.115587064del | CA2695201517 | TRPS1 | c.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 |
8 | g.115587061G>A | CA462658569 | TRPS1 | c.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 |
8 | g.115587061G>C | CA4851617 | TRPS1 | c.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 |
8 | g.115587061G= | CA1812945352 | TRPS1 | c.2640C= (p.Pro880=) c.2601C= (p.Pro867=) c.2013C= (p.Pro671=) c.1863C= (p.Pro621=) c.2613C= (p.Pro871=) c.2619C= (p.Pro873=) | |
8 | g.115587061G>T | CA462658571 | TRPS1 | c.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=) | |
8 | g.115587062G>A | CA184607473 | TRPS1 | c.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 |
8 | g.115587062G>C | CA372064705 | TRPS1 | c.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 |
8 | g.115587062G= | CA1812945355 | TRPS1 | c.2639C= (p.Pro880=) c.2600C= (p.Pro867=) c.2012C= (p.Pro671=) c.1862C= (p.Pro621=) c.2612C= (p.Pro871=) c.2618C= (p.Pro873=) | |
8 | g.115587062G>T | CA372064706 | TRPS1 | c.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) | |
8 | g.115587063G>A | CA4851618 | TRPS1 | c.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 |
8 | g.115587063G>C | CA372064708 | TRPS1 | c.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 |
8 | g.115587063G= | CA1812945357 | TRPS1 | c.2638C= (p.Pro880=) c.2599C= (p.Pro867=) c.2011C= (p.Pro671=) c.1861C= (p.Pro621=) c.2611C= (p.Pro871=) c.2617C= (p.Pro873=) | |
8 | g.115587063G>T | CA372064707 | TRPS1 | c.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) | |
8 | g.115587064G>A | CA4851619 | TRPS1 | c.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 |
8 | g.115587064G>C | CA462658574 | TRPS1 | c.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=) | |
8 | g.115587064G= | CA1812945362 | TRPS1 | c.2637C= (p.Leu879=) c.2598C= (p.Leu866=) c.2010C= (p.Leu670=) c.1860C= (p.Leu620=) c.2610C= (p.Leu870=) c.2616C= (p.Leu872=) | |
8 | g.115587064G>T | CA462658575 | TRPS1 | c.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 |
8 | g.115587065A>C | CA372064709 | TRPS1 | c.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) | |
8 | g.115587065A>G | CA372064710 | TRPS1 | c.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 |
8 | g.115587065A>T | CA372064711 | TRPS1 | c.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) | |
8 | g.115587066G>A | CA372064712 | TRPS1 | c.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 |
8 | g.115587066G>C | CA372064713 | TRPS1 | c.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) | |
8 | g.115587066G>T | CA372064714 | TRPS1 | c.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) | |
8 | g.115587067G>A | CA462658577 | TRPS1 | c.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 |
8 | g.115587067G>C | CA462658578 | TRPS1 | c.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=) | |
8 | g.115587067G= | CA1812945364 | TRPS1 | c.2634C= (p.Ala878=) c.2595C= (p.Ala865=) c.2007C= (p.Ala669=) c.1857C= (p.Ala619=) c.2607C= (p.Ala869=) c.2613C= (p.Ala871=) | |
8 | g.115587067G>T | CA462658580 | TRPS1 | c.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=) | |
8 | g.115587068G>A | CA372064715 | TRPS1 | c.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) | |
8 | g.115587068G>C | CA372064716 | TRPS1 | c.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) | |
8 | g.115587068G>T | CA372064717 | TRPS1 | c.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) | |
8 | g.115587069C>A | CA372064720 | TRPS1 | c.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) | |
8 | g.115587069C= | CA1812945366 | TRPS1 | c.2632G= (p.Ala878=) c.2593G= (p.Ala865=) c.2005G= (p.Ala669=) c.1855G= (p.Ala619=) c.2605G= (p.Ala869=) c.2611G= (p.Ala871=) | |
8 | g.115587069C>G | CA372064719 | TRPS1 | c.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) | |
8 | g.115587069C>T | CA372064718 | TRPS1 | c.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 |
8 | g.115587070C>A | CA462658581 | TRPS1 | c.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=) | |
8 | g.115587070C= | CA1812945369 | TRPS1 | c.2631G= (p.Gly877=) c.2592G= (p.Gly864=) c.2004G= (p.Gly668=) c.1854G= (p.Gly618=) c.2604G= (p.Gly868=) c.2610G= (p.Gly870=) | |
8 | g.115587070C>G | CA462658582 | TRPS1 | c.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 |
8 | g.115587070C>T | CA462658583 | TRPS1 | c.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 |
8 | g.115587071C>A | CA372064723 | TRPS1 | c.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 |
8 | g.115587071C>G | CA372064721 | TRPS1 | c.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) | |
8 | g.115587071C>T | CA372064722 | TRPS1 | c.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 |
8 | g.115587072C>A | CA372064724 | TRPS1 | c.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 |
8 | g.115587072C>G | CA372064725 | TRPS1 | c.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) | |
8 | g.115587072C>T | CA372064726 | TRPS1 | c.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 |
8 | g.115587073A= | CA1812945374 | TRPS1 | c.2628T= (p.Ser876=) c.2589T= (p.Ser863=) c.2001T= (p.Ser667=) c.1851T= (p.Ser617=) c.2601T= (p.Ser867=) c.2607T= (p.Ser869=) | |
8 | g.115587073A>C | CA462658585 | TRPS1 | c.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 |
8 | g.115587073A>G | CA462658586 | TRPS1 | c.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 |
8 | g.115587073A>T | CA4851620 | TRPS1 | c.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 |
8 | g.115587074G>A | CA204785 | TRPS1 | c.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 |
8 | g.115587074G>C | CA372064727 | TRPS1 | c.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) | |
8 | g.115587074G= | CA1812945378 | TRPS1 | c.2627C= (p.Ser876=) c.2588C= (p.Ser863=) c.2000C= (p.Ser667=) c.1850C= (p.Ser617=) c.2600C= (p.Ser867=) c.2606C= (p.Ser869=) | |
8 | g.115587074G>T | CA4851621 | TRPS1 | c.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 |
8 | g.115587075A>C | CA372064728 | TRPS1 | c.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) | |
8 | g.115587075A>G | CA372064729 | TRPS1 | c.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 |
8 | g.115587075A>T | CA372064730 | TRPS1 | c.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) | |
8 | g.115587076C>A | CA372064731 | TRPS1 | c.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 |
8 | g.115587076C= | CA1812945382 | TRPS1 | c.2625G= (p.Lys875=) c.2586G= (p.Lys862=) c.1998G= (p.Lys666=) c.1848G= (p.Lys616=) c.2598G= (p.Lys866=) c.2604G= (p.Lys868=) | |
8 | g.115587076C>G | CA4851622 | TRPS1 | c.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 |
8 | g.115587076C>T | CA462658591 | TRPS1 | c.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 |
8 | g.115587077T>A | CA372064732 | TRPS1 | c.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) | |
8 | g.115587077T>C | CA372064734 | TRPS1 | c.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 |
8 | g.115587077T>G | CA372064733 | TRPS1 | c.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) | |
8 | g.115587077T= | CA1812945389 | TRPS1 | c.2624A= (p.Lys875=) c.2585A= (p.Lys862=) c.1997A= (p.Lys666=) c.1847A= (p.Lys616=) c.2597A= (p.Lys866=) c.2603A= (p.Lys868=) | |
8 | g.115587078T>A | CA372064735 | TRPS1 | c.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) | |
8 | g.115587078T>C | CA372064736 | TRPS1 | c.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) | |
8 | g.115587078T>G | CA372064737 | TRPS1 | c.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) | |
8 | g.115587079C>A | CA372064738 | TRPS1 | c.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 |
8 | g.115587079C>G | CA372064739 | TRPS1 | c.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) | |
8 | g.115587079C>T | CA462658596 | TRPS1 | c.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=) | |
8 | g.115587080T>A | CA372064740 | TRPS1 | c.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) | |
8 | g.115587080T>C | CA372064741 | TRPS1 | c.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 |
8 | g.115587080T>G | CA372064742 | TRPS1 | c.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) | |
8 | g.115587080T= | CA1812945391 | TRPS1 | c.2621A= (p.Glu874=) c.2582A= (p.Glu861=) c.1994A= (p.Glu665=) c.1844A= (p.Glu615=) c.2594A= (p.Glu865=) c.2600A= (p.Glu867=) | |
8 | g.115587081C>A | CA372064743 | TRPS1 | c.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) | |
8 | g.115587081C>G | CA372064744 | TRPS1 | c.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) | |
8 | g.115587081C>T | CA372064745 | TRPS1 | c.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) | |
8 | g.115587082T>A | CA462658602 | TRPS1 | c.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=) | |
8 | g.115587082T>C | CA462658600 | TRPS1 | c.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=) | |
8 | g.115587082T>G | CA462658599 | TRPS1 | c.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=) | |
8 | g.115587083C>A | CA372064746 | TRPS1 | c.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 |
8 | g.115587083C= | CA1812945396 | TRPS1 | c.2618G= (p.Gly873=) c.2579G= (p.Gly860=) c.1991G= (p.Gly664=) c.1841G= (p.Gly614=) c.2591G= (p.Gly864=) c.2597G= (p.Gly866=) | |
8 | g.115587083C>G | CA4851623 | TRPS1 | c.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 |
8 | g.115587083C>T | CA184607497 | TRPS1 | c.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 |
8 | g.115587084C>A | CA372064747 | TRPS1 | c.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) | |
8 | g.115587084C= | CA1812945399 | TRPS1 | c.2617G= (p.Gly873=) c.2578G= (p.Gly860=) c.1990G= (p.Gly664=) c.1840G= (p.Gly614=) c.2590G= (p.Gly864=) c.2596G= (p.Gly866=) | |
8 | g.115587084C>G | CA372064749 | TRPS1 | c.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 |
8 | g.115587084C>T | CA372064748 | TRPS1 | c.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 |
8 | g.115587085G>A | CA462658606 | TRPS1 | c.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 |
8 | g.115587085G>C | CA462658607 | TRPS1 | c.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 |
8 | g.115587085G= | CA1812945402 | TRPS1 | c.2616C= (p.Gly872=) c.2577C= (p.Gly859=) c.1989C= (p.Gly663=) c.1839C= (p.Gly613=) c.2589C= (p.Gly863=) c.2595C= (p.Gly865=) | |
8 | g.115587085G>T | CA4851624 | TRPS1 | c.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 |
8 | g.115587086C>A | CA372064752 | TRPS1 | c.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) | |
8 | g.115587086C>G | CA372064750 | TRPS1 | c.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) | |
8 | g.115587086C>T | CA372064751 | TRPS1 | c.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) | |
8 | g.115587087C>A | CA372064753 | TRPS1 | c.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) | |
8 | g.115587087C= | CA1812945405 | TRPS1 | c.2614G= (p.Gly872=) c.2575G= (p.Gly859=) c.1987G= (p.Gly663=) c.1837G= (p.Gly613=) c.2587G= (p.Gly863=) c.2593G= (p.Gly865=) | |
8 | g.115587087C>G | CA372064754 | TRPS1 | c.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) | |
8 | g.115587087C>T | CA4851625 | TRPS1 | c.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 |
8 | g.115587088A>C | CA462658609 | TRPS1 | c.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=) | |
8 | g.115587088A>G | CA462658610 | TRPS1 | c.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=) | |
8 | g.115587088A>T | CA462658611 | TRPS1 | c.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=) | |
8 | g.115587089G>A | CA372064755 | TRPS1 | c.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) | |
8 | g.115587089G>C | CA372064756 | TRPS1 | c.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) | |
8 | g.115587089G= | CA1812945410 | TRPS1 | c.2612C= (p.Ala871=) c.2573C= (p.Ala858=) c.1985C= (p.Ala662=) c.1835C= (p.Ala612=) c.2585C= (p.Ala862=) c.2591C= (p.Ala864=) | |
8 | g.115587089G>T | CA372064757 | TRPS1 | c.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 |
8 | g.115587090C>A | CA4851626 | TRPS1 | c.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 |
8 | g.115587090C= | CA1812945413 | TRPS1 | c.2611G= (p.Ala871=) c.2572G= (p.Ala858=) c.1984G= (p.Ala662=) c.1834G= (p.Ala612=) c.2584G= (p.Ala862=) c.2590G= (p.Ala864=) | |
8 | g.115587090C>G | CA372064758 | TRPS1 | c.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) | |
8 | g.115587090C>T | CA372064759 | TRPS1 | c.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 |
8 | g.115587091T>A | CA462658612 | TRPS1 | c.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=) | |
8 | g.115587091T>C | CA462658613 | TRPS1 | c.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=) | |
8 | g.115587091T>G | CA462658614 | TRPS1 | c.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 |
8 | g.115587092G>A | CA372064762 | TRPS1 | c.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 |
8 | g.115587092G>C | CA372064761 | TRPS1 | c.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) | |
8 | g.115587092G>T | CA372064760 | TRPS1 | c.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) | |
8 | g.115587093G>A | CA372064763 | TRPS1 | c.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) | |
8 | g.115587093G>C | CA372064764 | TRPS1 | c.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) | |
8 | g.115587093G>T | CA372064765 | TRPS1 | c.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) | |
8 | g.115587094C>A | CA462658616 | TRPS1 | c.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=) | |
8 | g.115587094C>G | CA462658618 | TRPS1 | c.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=) | |
8 | g.115587094C>T | CA462658620 | TRPS1 | c.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 |
8 | g.115587095G>A | CA4851627 | TRPS1 | c.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 |
8 | g.115587095G>C | CA372064766 | TRPS1 | c.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) | |
8 | g.115587095G= | CA1812945417 | TRPS1 | c.2606C= (p.Ala869=) c.2567C= (p.Ala856=) c.1979C= (p.Ala660=) c.1829C= (p.Ala610=) c.2579C= (p.Ala860=) c.2585C= (p.Ala862=) | |
8 | g.115587095G>T | CA372064767 | TRPS1 | c.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) | |
8 | g.115587096C>A | CA372064768 | TRPS1 | c.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 |
8 | g.115587096C= | CA1812945420 | TRPS1 | c.2605G= (p.Ala869=) c.2566G= (p.Ala856=) c.1978G= (p.Ala660=) c.1828G= (p.Ala610=) c.2578G= (p.Ala860=) c.2584G= (p.Ala862=) | |
8 | g.115587096C>G | CA372064769 | TRPS1 | c.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) | |
8 | g.115587096C>T | CA4851628 | TRPS1 | c.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 |
8 | g.115587097C>A | CA462658624 | TRPS1 | c.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=) | |
8 | g.115587097C>G | CA462658625 | TRPS1 | c.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=) | |
8 | g.115587097C>T | CA462658626 | TRPS1 | c.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=) | |
8 | g.115587098C>A | CA372064770 | TRPS1 | c.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) | |
8 | g.115587098C= | CA1812945423 | TRPS1 | c.2603G= (p.Gly868=) c.2564G= (p.Gly855=) c.1976G= (p.Gly659=) c.1826G= (p.Gly609=) c.2576G= (p.Gly859=) c.2582G= (p.Gly861=) | |
8 | g.115587098C>G | CA372064771 | TRPS1 | c.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 |
8 | g.115587098C>T | CA372064772 | TRPS1 | c.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) | |
8 | g.115587099C>A | CA372064775 | TRPS1 | c.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 |
8 | g.115587099C>G | CA372064774 | TRPS1 | c.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) | |
8 | g.115587099C>T | CA372064773 | TRPS1 | c.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) | |
8 | g.115587100C>A | CA372064777 | TRPS1 | c.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 |
8 | g.115587100C= | CA1812945428 | TRPS1 | c.2601G= (p.Gln867=) c.2562G= (p.Gln854=) c.1974G= (p.Gln658=) c.1824G= (p.Gln608=) c.2574G= (p.Gln858=) c.2580G= (p.Gln860=) | |
8 | g.115587100C>G | CA372064776 | TRPS1 | c.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) | |
8 | g.115587100C>T | CA462658629 | TRPS1 | c.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 |
8 | g.115587101T>A | CA372064778 | TRPS1 | c.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) | |
8 | g.115587101T>C | CA372064779 | TRPS1 | c.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) | |
8 | g.115587101T>G | CA372064780 | TRPS1 | c.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) | |
8 | g.115587102G>A | CA372064781 | TRPS1 | c.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) | |
8 | g.115587102G>C | CA372064782 | TRPS1 | c.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 |
8 | g.115587102G>T | CA372064783 | TRPS1 | c.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) | |
8 | g.115587103C>A | CA462658633 | TRPS1 | c.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 |
8 | g.115587103C>G | CA462658634 | TRPS1 | c.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=) | |
8 | g.115587103C>T | CA462658635 | TRPS1 | c.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 |
8 | g.115587104A= | CA1812945433 | TRPS1 | c.2597T= (p.Leu866=) c.2558T= (p.Leu853=) c.1970T= (p.Leu657=) c.1820T= (p.Leu607=) c.2570T= (p.Leu857=) c.2576T= (p.Leu859=) | |
8 | g.115587104A>C | CA372064784 | TRPS1 | c.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) | |
8 | g.115587104A>G | CA4851629 | TRPS1 | c.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 |
8 | g.115587104A>T | CA372064785 | TRPS1 | c.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) | |
8 | g.115587105G>A | CA184607518 | TRPS1 | c.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 |
8 | g.115587105G>C | CA372064786 | TRPS1 | c.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) | |
8 | g.115587105G= | CA1812945438 | TRPS1 | c.2596C= (p.Leu866=) c.2557C= (p.Leu853=) c.1969C= (p.Leu657=) c.1819C= (p.Leu607=) c.2569C= (p.Leu857=) c.2575C= (p.Leu859=) | |
8 | g.115587105G>T | CA372064787 | TRPS1 | c.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) | |
8 | g.115587106G>A | CA462658639 | TRPS1 | c.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=) | |
8 | g.115587106G>C | CA372064788 | TRPS1 | c.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) | |
8 | g.115587106G= | CA1812945440 | TRPS1 | c.2595C= (p.Phe865=) c.2556C= (p.Phe852=) c.1968C= (p.Phe656=) c.1818C= (p.Phe606=) c.2568C= (p.Phe856=) c.2574C= (p.Phe858=) | |
8 | g.115587106G>T | CA372064789 | TRPS1 | c.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 |
8 | g.115587107A= | CA1812945441 | TRPS1 | c.2594T= (p.Phe865=) c.2555T= (p.Phe852=) c.1967T= (p.Phe656=) c.1817T= (p.Phe606=) c.2567T= (p.Phe856=) c.2573T= (p.Phe858=) | |
8 | g.115587107A>C | CA372064790 | TRPS1 | c.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) | |
8 | g.115587107A>G | CA372064792 | TRPS1 | c.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 |
8 | g.115587107A>T | CA372064791 | TRPS1 | c.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) | |
8 | g.115587108A>C | CA372064793 | TRPS1 | c.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) | |
8 | g.115587108A>G | CA372064794 | TRPS1 | c.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) | |
8 | g.115587108A>T | CA372064795 | TRPS1 | c.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) | |
8 | g.115587109T>A | CA462658643 | TRPS1 | c.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 |
8 | g.115587109T>C | CA462658644 | TRPS1 | c.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 |
8 | g.115587109T>G | CA462658645 | TRPS1 | c.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=) | |
8 | g.115587109T= | CA1812945444 | TRPS1 | c.2592A= (p.Gly864=) c.2553A= (p.Gly851=) c.1965A= (p.Gly655=) c.1815A= (p.Gly605=) c.2565A= (p.Gly855=) c.2571A= (p.Gly857=) | |
8 | g.115587110C>A | CA372064796 | TRPS1 | c.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 |
8 | g.115587110C>G | CA372064797 | TRPS1 | c.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 |
8 | g.115587110C>T | CA372064798 | TRPS1 | c.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) | |
8 | g.115587111C>A | CA372064799 | TRPS1 | c.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) | |
8 | g.115587111C= | CA1812945448 | TRPS1 | c.2590G= (p.Gly864=) c.2551G= (p.Gly851=) c.1963G= (p.Gly655=) c.1813G= (p.Gly605=) c.2563G= (p.Gly855=) c.2569G= (p.Gly857=) | |
8 | g.115587111C>G | CA372064800 | TRPS1 | c.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 |
8 | g.115587111C>T | CA184607519 | TRPS1 | c.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 |
8 | g.115587112C>A | CA372064801 | TRPS1 | c.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) | |
8 | g.115587112C= | CA1812945452 | TRPS1 | c.2589G= (p.Lys863=) c.2550G= (p.Lys850=) c.1962G= (p.Lys654=) c.1812G= (p.Lys604=) c.2562G= (p.Lys854=) c.2568G= (p.Lys856=) | |
8 | g.115587112C>G | CA372064802 | TRPS1 | c.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) | |
8 | g.115587112C>T | CA184607521 | TRPS1 | c.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 |
8 | g.115587113T>A | CA372064804 | TRPS1 | c.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) | |
8 | g.115587113T>C | CA372064805 | TRPS1 | c.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 |
8 | g.115587113T>G | CA372064803 | TRPS1 | c.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) | |
8 | g.115587114T>A | CA372064806 | TRPS1 | c.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) | |
8 | g.115587114T>C | CA372064808 | TRPS1 | c.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 |
8 | g.115587114T>G | CA372064807 | TRPS1 | c.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 |
8 | g.115587114T= | CA1812945455 | TRPS1 | c.2587A= (p.Lys863=) c.2548A= (p.Lys850=) c.1960A= (p.Lys654=) c.1810A= (p.Lys604=) c.2560A= (p.Lys854=) c.2566A= (p.Lys856=) | |
8 | g.115587115G>A | CA462658650 | TRPS1 | c.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=) | |
8 | g.115587115G>C | CA462658651 | TRPS1 | c.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 |
8 | g.115587115G= | CA1812945459 | TRPS1 | c.2586C= (p.Thr862=) c.2547C= (p.Thr849=) c.1959C= (p.Thr653=) c.1809C= (p.Thr603=) c.2559C= (p.Thr853=) c.2565C= (p.Thr855=) | |
8 | g.115587115G>T | CA462658652 | TRPS1 | c.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=) | |
8 | g.115587116G>A | CA372064809 | TRPS1 | c.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) | |
8 | g.115587116G>C | CA372064810 | TRPS1 | c.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) | |
8 | g.115587116G>T | CA372064811 | TRPS1 | c.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 |
8 | g.115587117T>A | CA372064812 | TRPS1 | c.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) | |
8 | g.115587117T>C | CA372064813 | TRPS1 | c.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) | |
8 | g.115587117T>G | CA372064814 | TRPS1 | c.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) | |
8 | g.115587118T>A | CA372064815 | TRPS1 | c.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) | |
8 | g.115587118T>C | CA462658654 | TRPS1 | c.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=) | |
8 | g.115587118T>G | CA372064816 | TRPS1 | c.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) | |
8 | g.115587119T>A | CA372064817 | TRPS1 | c.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) | |
8 | g.115587119T>C | CA372064818 | TRPS1 | c.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 |
8 | g.115587119T>G | CA372064819 | TRPS1 | c.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) | |
8 | g.115587119T= | CA1812945465 | TRPS1 | c.2582A= (p.Glu861=) c.2543A= (p.Glu848=) c.1955A= (p.Glu652=) c.1805A= (p.Glu602=) c.2555A= (p.Glu852=) c.2561A= (p.Glu854=) | |
8 | g.115587120C>A | CA372064822 | TRPS1 | c.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) | |
8 | g.115587120C>G | CA372064821 | TRPS1 | c.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) | |
8 | g.115587120C>T | CA372064820 | TRPS1 | c.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) | |
8 | g.115587121dup | CA184607525 | TRPS1 | c.2581dup (p.Glu861GlyfsTer?) c.2542dup (p.Glu848GlyfsTer?) c.1954dup (p.Glu652GlyfsTer?) c.1804dup (p.Glu602GlyfsTer?) c.2554dup (p.Glu852GlyfsTer?) c.2560dup (p.Glu854GlyfsTer?) | dbSNP |
8 | g.115587121C>A | CA462658660 | TRPS1 | c.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=) | |
8 | g.115587121C>G | CA462658659 | TRPS1 | c.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=) | |
8 | g.115587121C>T | CA462658658 | TRPS1 | c.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=) | |
8 | g.115587122A>C | CA372064823 | TRPS1 | c.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) | |
8 | g.115587122A>G | CA372064824 | TRPS1 | c.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 |
8 | g.115587122A>T | CA372064825 | TRPS1 | c.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) | |
8 | g.115587123C>A | CA372064826 | TRPS1 | c.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 |
8 | g.115587123C= | CA1812945467 | TRPS1 | c.2578G= (p.Val860=) c.2539G= (p.Val847=) c.1951G= (p.Val651=) c.1801G= (p.Val601=) c.2551G= (p.Val851=) c.2557G= (p.Val853=) | |
8 | g.115587123C>G | CA372064827 | TRPS1 | c.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) | |
8 | g.115587123C>T | CA372064828 | TRPS1 | c.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 |
8 | g.115587124A= | CA1812945469 | TRPS1 | c.2577T= (p.Ala859=) c.2538T= (p.Ala846=) c.1950T= (p.Ala650=) c.1800T= (p.Ala600=) c.2550T= (p.Ala850=) c.2556T= (p.Ala852=) | |
8 | g.115587124A>C | CA4851631 | TRPS1 | c.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 |
8 | g.115587124A>G | CA4851630 | TRPS1 | c.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 |
8 | g.115587124A>T | CA462658664 | TRPS1 | c.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=) | |
8 | g.115587125G>A | CA372064830 | TRPS1 | c.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) | |
8 | g.115587125G>C | CA372064831 | TRPS1 | c.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) | |
8 | g.115587125G>T | CA372064829 | TRPS1 | c.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) | |
8 | g.115587126C>A | CA372064832 | TRPS1 | c.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 |
8 | g.115587126C>G | CA372064833 | TRPS1 | c.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) | |
8 | g.115587126C>T | CA372064834 | TRPS1 | c.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) | |
8 | g.115587127C>A | CA4851632 | TRPS1 | c.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 |
8 | g.115587127C= | CA1812945472 | TRPS1 | c.2574G= (p.Leu858=) c.2535G= (p.Leu845=) c.1947G= (p.Leu649=) c.1797G= (p.Leu599=) c.2547G= (p.Leu849=) c.2553G= (p.Leu851=) | |
8 | g.115587127C>G | CA372064835 | TRPS1 | c.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) | |
8 | g.115587127C>T | CA462658668 | TRPS1 | c.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=) | |
8 | g.115587128A= | CA1812945475 | TRPS1 | c.2573T= (p.Leu858=) c.2534T= (p.Leu845=) c.1946T= (p.Leu649=) c.1796T= (p.Leu599=) c.2546T= (p.Leu849=) c.2552T= (p.Leu851=) | |
8 | g.115587128A>C | CA372064837 | TRPS1 | c.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) | |
8 | g.115587128A>G | CA184607547 | TRPS1 | c.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 |
8 | g.115587128A>T | CA372064836 | TRPS1 | c.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) | |
8 | g.115587129A= | CA1812945477 | TRPS1 | c.2572T= (p.Leu858=) c.2533T= (p.Leu845=) c.1945T= (p.Leu649=) c.1795T= (p.Leu599=) c.2545T= (p.Leu849=) c.2551T= (p.Leu851=) | |
8 | g.115587129A>C | CA372064838 | TRPS1 | c.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 |
8 | g.115587129A>G | CA462658669 | TRPS1 | c.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=) | |
8 | g.115587129A>T | CA372064839 | TRPS1 | c.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) | |
8 | g.115587130G>A | CA462658670 | TRPS1 | c.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 |
8 | g.115587130G>C | CA462658671 | TRPS1 | c.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=) | |
8 | g.115587130G= | CA1812945480 | TRPS1 | c.2571C= (p.Gly857=) c.2532C= (p.Gly844=) c.1944C= (p.Gly648=) c.1794C= (p.Gly598=) c.2544C= (p.Gly848=) c.2550C= (p.Gly850=) | |
8 | g.115587130G>T | CA462658672 | TRPS1 | c.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=) | |
8 | g.115587131C>A | CA372064840 | TRPS1 | c.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 |
8 | g.115587131C>G | CA372064841 | TRPS1 | c.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) | |
8 | g.115587131C>T | CA372064842 | TRPS1 | c.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) | |
8 | g.115587132C>A | CA372064843 | TRPS1 | c.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) | |
8 | g.115587132C>G | CA372064845 | TRPS1 | c.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) | |
8 | g.115587132C>T | CA372064844 | TRPS1 | c.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 |
8 | g.115587133A= | CA1812945486 | TRPS1 | c.2568T= (p.Tyr856=) c.2529T= (p.Tyr843=) c.1941T= (p.Tyr647=) c.1791T= (p.Tyr597=) c.2541T= (p.Tyr847=) c.2547T= (p.Tyr849=) | |
8 | g.115587133A>C | CA372064846 | TRPS1 | c.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 |
8 | g.115587133A>G | CA462658676 | TRPS1 | c.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=) | |
8 | g.115587133A>T | CA372064847 | TRPS1 | c.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) | |
8 | g.115587134T>A | CA372064848 | TRPS1 | c.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) | |
8 | g.115587134T>C | CA372064849 | TRPS1 | c.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) | |
8 | g.115587134T>G | CA372064850 | TRPS1 | c.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) | |
8 | g.115587135A>C | CA372064851 | TRPS1 | c.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) | |
8 | g.115587135A>G | CA372064852 | TRPS1 | c.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) | |
8 | g.115587135A>T | CA372064853 | TRPS1 | c.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 |
8 | g.115587136A>C | CA372064854 | TRPS1 | c.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) | |
8 | g.115587136A>G | CA462658680 | TRPS1 | c.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=) | |
8 | g.115587136A>T | CA462658681 | TRPS1 | c.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=) | |
8 | g.115587137A= | CA1812945491 | TRPS1 | c.2564T= (p.Ile855=) c.2525T= (p.Ile842=) c.1937T= (p.Ile646=) c.1787T= (p.Ile596=) c.2537T= (p.Ile846=) c.2543T= (p.Ile848=) | |
8 | g.115587137A>C | CA372064855 | TRPS1 | c.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) | |
8 | g.115587137A>G | CA184607548 | TRPS1 | c.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 |
8 | g.115587137A>T | CA372064856 | TRPS1 | c.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) | |
8 | g.115587138T>A | CA4851633 | TRPS1 | c.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 |
8 | g.115587138T>C | CA372064858 | TRPS1 | c.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 |
8 | g.115587138T>G | CA372064857 | TRPS1 | c.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) | |
8 | g.115587138T= | CA1812945496 | TRPS1 | c.2563A= (p.Ile855=) c.2524A= (p.Ile842=) c.1936A= (p.Ile646=) c.1786A= (p.Ile596=) c.2536A= (p.Ile846=) c.2542A= (p.Ile848=) | |
8 | g.115587139A= | CA1812945500 | TRPS1 | c.2562T= (p.Pro854=) c.2523T= (p.Pro841=) c.1935T= (p.Pro645=) c.1785T= (p.Pro595=) c.2535T= (p.Pro845=) c.2541T= (p.Pro847=) | |
8 | g.115587139A>C | CA462658687 | TRPS1 | c.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 |
8 | g.115587139A>G | CA462658688 | TRPS1 | c.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=) | |
8 | g.115587139A>T | CA462658689 | TRPS1 | c.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=) | |
8 | g.115587140G>A | CA372064860 | TRPS1 | c.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) | |
8 | g.115587140G>C | CA4851634 | TRPS1 | c.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 |
8 | g.115587140G= | CA1812945503 | TRPS1 | c.2561C= (p.Pro854=) c.2522C= (p.Pro841=) c.1934C= (p.Pro645=) c.1784C= (p.Pro595=) c.2534C= (p.Pro845=) c.2540C= (p.Pro847=) | |
8 | g.115587140G>T | CA372064859 | TRPS1 | c.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 |
8 | g.115587141G>A | CA372064861 | TRPS1 | c.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 |
8 | g.115587141G>C | CA372064862 | TRPS1 | c.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) | |
8 | g.115587141G>T | CA372064863 | TRPS1 | c.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) | |
8 | g.115587142T>A | CA462658694 | TRPS1 | c.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 |
8 | g.115587142T>C | CA462658696 | TRPS1 | c.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=) | |
8 | g.115587142T>G | CA4851635 | TRPS1 | c.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 |
8 | g.115587142T= | CA1812945507 | TRPS1 | c.2559A= (p.Arg853=) c.2520A= (p.Arg840=) c.1932A= (p.Arg644=) c.1782A= (p.Arg594=) c.2532A= (p.Arg844=) c.2538A= (p.Arg846=) | |
8 | g.115587143C>A | CA372064866 | TRPS1 | c.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 |
8 | g.115587143C= | CA1812945511 | TRPS1 | c.2558G= (p.Arg853=) c.2519G= (p.Arg840=) c.1931G= (p.Arg644=) c.1781G= (p.Arg594=) c.2531G= (p.Arg844=) c.2537G= (p.Arg846=) | |
8 | g.115587143C>G | CA372064864 | TRPS1 | c.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 |
8 | g.115587143C>T | CA372064865 | TRPS1 | c.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 |
8 | g.115587144G>A | CA117608 | TRPS1 | c.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 |
8 | g.115587144G>C | CA372064867 | TRPS1 | c.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 |
8 | g.115587144G= | CA1812945522 | TRPS1 | c.2557C= (p.Arg853=) c.2518C= (p.Arg840=) c.1930C= (p.Arg644=) c.1780C= (p.Arg594=) c.2530C= (p.Arg844=) c.2536C= (p.Arg846=) | |
8 | g.115587144G>T | CA462658698 | TRPS1 | c.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=) | |
8 | g.115587145C>A | CA462658702 | TRPS1 | c.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 |
8 | g.115587145C= | CA1812945528 | TRPS1 | c.2556G= (p.Ala852=) c.2517G= (p.Ala839=) c.1929G= (p.Ala643=) c.1779G= (p.Ala593=) c.2529G= (p.Ala843=) c.2535G= (p.Ala845=) | |
8 | g.115587145C>G | CA462658700 | TRPS1 | c.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=) | |
8 | g.115587145C>T | CA462658701 | TRPS1 | c.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 |
8 | g.115587146G>A | CA372064868 | TRPS1 | c.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 |
8 | g.115587146G>C | CA372064869 | TRPS1 | c.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) | |
8 | g.115587146G= | CA1812945532 | TRPS1 | c.2555C= (p.Ala852=) c.2516C= (p.Ala839=) c.1928C= (p.Ala643=) c.1778C= (p.Ala593=) c.2528C= (p.Ala843=) c.2534C= (p.Ala845=) | |
8 | g.115587146G>T | CA184607563 | TRPS1 | c.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 |
8 | g.115587147C>A | CA372064871 | TRPS1 | c.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) | |
8 | g.115587147C= | CA1812945536 | TRPS1 | c.2554G= (p.Ala852=) c.2515G= (p.Ala839=) c.1927G= (p.Ala643=) c.1777G= (p.Ala593=) c.2527G= (p.Ala843=) c.2533G= (p.Ala845=) | |
8 | g.115587147C>G | CA372064870 | TRPS1 | c.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) | |
8 | g.115587147C>T | CA4851636 | TRPS1 | c.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 |
8 | g.115587148C>A | CA184607571 | TRPS1 | c.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 |
8 | g.115587148C= | CA1812945540 | TRPS1 | c.2553G= (p.Leu851=) c.2514G= (p.Leu838=) c.1926G= (p.Leu642=) c.1776G= (p.Leu592=) c.2526G= (p.Leu842=) c.2532G= (p.Leu844=) | |
8 | g.115587148C>G | CA462658708 | TRPS1 | c.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=) | |
8 | g.115587148C>T | CA462658707 | TRPS1 | c.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=) | |
8 | g.115587149A>C | CA372064872 | TRPS1 | c.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) | |
8 | g.115587149A>G | CA372064873 | TRPS1 | c.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 |
8 | g.115587149A>T | CA372064874 | TRPS1 | c.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) | |
8 | g.115587150G>A | CA462658710 | TRPS1 | c.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=) | |
8 | g.115587150G>C | CA372064875 | TRPS1 | c.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 |
8 | g.115587150G= | CA1812945544 | TRPS1 | c.2551C= (p.Leu851=) c.2512C= (p.Leu838=) c.1924C= (p.Leu642=) c.1774C= (p.Leu592=) c.2524C= (p.Leu842=) c.2530C= (p.Leu844=) | |
8 | g.115587150G>T | CA372064876 | TRPS1 | c.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) |