Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.115418359C>A	CA372064228	TRPS1	c.2794G>T (p.Ala932Ser) c.2755G>T (p.Ala919Ser) c.128G>T c.2017G>T (p.Ala673Ser) c.2767G>T (p.Ala923Ser) c.2773G>T (p.Ala925Ser)
8	g.115418359C=	CA1812857417	TRPS1	c.2794G= (p.Ala932=) c.2755G= (p.Ala919=) c.128G= c.2017G= (p.Ala673=) c.2767G= (p.Ala923=) c.2773G= (p.Ala925=)
8	g.115418359C>G	CA372064229	TRPS1	c.2794G>C (p.Ala932Pro) c.2755G>C (p.Ala919Pro) c.128G>C c.2017G>C (p.Ala673Pro) c.2767G>C (p.Ala923Pro) c.2773G>C (p.Ala925Pro)
8	g.115418359C>T	CA16043431	TRPS1	c.2794G>A (p.Ala932Thr) c.2755G>A (p.Ala919Thr) c.128G>A c.2017G>A (p.Ala673Thr) c.2767G>A (p.Ala923Thr) c.2773G>A (p.Ala925Thr)	ClinVar dbSNP
8	g.115418360G>A	CA4851577	TRPS1	c.2793C>T (p.Asn931=) c.2754C>T (p.Asn918=) c.127C>T c.2016C>T (p.Asn672=) c.2766C>T (p.Asn922=) c.2772C>T (p.Asn924=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418360G>C	CA372064231	TRPS1	c.2793C>G (p.Asn931Lys) c.2754C>G (p.Asn918Lys) c.127C>G c.2016C>G (p.Asn672Lys) c.2766C>G (p.Asn922Lys) c.2772C>G (p.Asn924Lys)
8	g.115418360G=	CA1812857421	TRPS1	c.2793C= (p.Asn931=) c.2754C= (p.Asn918=) c.127C= c.2016C= (p.Asn672=) c.2766C= (p.Asn922=) c.2772C= (p.Asn924=)
8	g.115418360G>T	CA372064230	TRPS1	c.2793C>A (p.Asn931Lys) c.2754C>A (p.Asn918Lys) c.127C>A c.2016C>A (p.Asn672Lys) c.2766C>A (p.Asn922Lys) c.2772C>A (p.Asn924Lys)
8	g.115418361T>A	CA372064232	TRPS1	c.2792A>T (p.Asn931Ile) c.2753A>T (p.Asn918Ile) c.126A>T c.2015A>T (p.Asn672Ile) c.2765A>T (p.Asn922Ile) c.2771A>T (p.Asn924Ile)	ClinVar
8	g.115418361T>C	CA372064233	TRPS1	c.2792A>G (p.Asn931Ser) c.2753A>G (p.Asn918Ser) c.126A>G c.2015A>G (p.Asn672Ser) c.2765A>G (p.Asn922Ser) c.2771A>G (p.Asn924Ser)	COSMIC COSMIC
8	g.115418361T>G	CA372064234	TRPS1	c.2792A>C (p.Asn931Thr) c.2753A>C (p.Asn918Thr) c.126A>C c.2015A>C (p.Asn672Thr) c.2765A>C (p.Asn922Thr) c.2771A>C (p.Asn924Thr)
8	g.115418362T>A	CA372064235	TRPS1	c.2791A>T (p.Asn931Tyr) c.2752A>T (p.Asn918Tyr) c.125A>T c.2014A>T (p.Asn672Tyr) c.2764A>T (p.Asn922Tyr) c.2770A>T (p.Asn924Tyr)
8	g.115418362T>C	CA372064236	TRPS1	c.2791A>G (p.Asn931Asp) c.2752A>G (p.Asn918Asp) c.125A>G c.2014A>G (p.Asn672Asp) c.2764A>G (p.Asn922Asp) c.2770A>G (p.Asn924Asp)
8	g.115418362T>G	CA372064237	TRPS1	c.2791A>C (p.Asn931His) c.2752A>C (p.Asn918His) c.125A>C c.2014A>C (p.Asn672His) c.2764A>C (p.Asn922His) c.2770A>C (p.Asn924His)
8	g.115418363G>A	CA462631410	TRPS1	c.2790C>T (p.Cys930=) c.2751C>T (p.Cys917=) c.124C>T c.2013C>T (p.Cys671=) c.2763C>T (p.Cys921=) c.2769C>T (p.Cys923=)
8	g.115418363G>C	CA372064238	TRPS1	c.2790C>G (p.Cys930Trp) c.2751C>G (p.Cys917Trp) c.124C>G c.2013C>G (p.Cys671Trp) c.2763C>G (p.Cys921Trp) c.2769C>G (p.Cys923Trp)
8	g.115418363G>T	CA372064239	TRPS1	c.2790C>A (p.Cys930Ter) c.2751C>A (p.Cys917Ter) c.124C>A c.2013C>A (p.Cys671Ter) c.2763C>A (p.Cys921Ter) c.2769C>A (p.Cys923Ter)
8	g.115418364C>A	CA372064240	TRPS1	c.2789G>T (p.Cys930Phe) c.2750G>T (p.Cys917Phe) c.123G>T c.2012G>T (p.Cys671Phe) c.2762G>T (p.Cys921Phe) c.2768G>T (p.Cys923Phe)
8	g.115418364C>G	CA372064241	TRPS1	c.2789G>C (p.Cys930Ser) c.2750G>C (p.Cys917Ser) c.123G>C c.2012G>C (p.Cys671Ser) c.2762G>C (p.Cys921Ser) c.2768G>C (p.Cys923Ser)
8	g.115418364C>T	CA372064242	TRPS1	c.2789G>A (p.Cys930Tyr) c.2750G>A (p.Cys917Tyr) c.123G>A c.2012G>A (p.Cys671Tyr) c.2762G>A (p.Cys921Tyr) c.2768G>A (p.Cys923Tyr)	COSMIC COSMIC
8	g.115418365A=	CA1812857431	TRPS1	c.2788T= (p.Cys930=) c.2749T= (p.Cys917=) c.122T= c.2011T= (p.Cys671=) c.2761T= (p.Cys921=) c.2767T= (p.Cys923=)
8	g.115418365A>C	CA372064245	TRPS1	c.2788T>G (p.Cys930Gly) c.2749T>G (p.Cys917Gly) c.122T>G c.2011T>G (p.Cys671Gly) c.2761T>G (p.Cys921Gly) c.2767T>G (p.Cys923Gly)	ClinVar dbSNP
8	g.115418365A>G	CA372064244	TRPS1	c.2788T>C (p.Cys930Arg) c.2749T>C (p.Cys917Arg) c.122T>C c.2011T>C (p.Cys671Arg) c.2761T>C (p.Cys921Arg) c.2767T>C (p.Cys923Arg)	ClinVar dbSNP
8	g.115418365A>T	CA372064243	TRPS1	c.2788T>A (p.Cys930Ser) c.2749T>A (p.Cys917Ser) c.122T>A c.2011T>A (p.Cys671Ser) c.2761T>A (p.Cys921Ser) c.2767T>A (p.Cys923Ser)
8	g.115418366T>A	CA462631411	TRPS1	c.2787A>T (p.Val929=) c.2748A>T (p.Val916=) c.121A>T c.2010A>T (p.Val670=) c.2760A>T (p.Val920=) c.2766A>T (p.Val922=)
8	g.115418366T>C	CA184471346	TRPS1	c.2787A>G (p.Val929=) c.2748A>G (p.Val916=) c.121A>G c.2010A>G (p.Val670=) c.2760A>G (p.Val920=) c.2766A>G (p.Val922=)	dbSNP gnomAD v2 gnomAD v4
8	g.115418366T>G	CA462631412	TRPS1	c.2787A>C (p.Val929=) c.2748A>C (p.Val916=) c.121A>C c.2010A>C (p.Val670=) c.2760A>C (p.Val920=) c.2766A>C (p.Val922=)
8	g.115418366T=	CA1812857438	TRPS1	c.2787A= (p.Val929=) c.2748A= (p.Val916=) c.121A= c.2010A= (p.Val670=) c.2760A= (p.Val920=) c.2766A= (p.Val922=)
8	g.115418367A>C	CA372064246	TRPS1	c.2786T>G (p.Val929Gly) c.2747T>G (p.Val916Gly) c.120T>G c.2009T>G (p.Val670Gly) c.2759T>G (p.Val920Gly) c.2765T>G (p.Val922Gly)	ClinVar dbSNP
8	g.115418367A>G	CA372064247	TRPS1	c.2786T>C (p.Val929Ala) c.2747T>C (p.Val916Ala) c.120T>C c.2009T>C (p.Val670Ala) c.2759T>C (p.Val920Ala) c.2765T>C (p.Val922Ala)
8	g.115418367A>T	CA372064248	TRPS1	c.2786T>A (p.Val929Glu) c.2747T>A (p.Val916Glu) c.120T>A c.2009T>A (p.Val670Glu) c.2759T>A (p.Val920Glu) c.2765T>A (p.Val922Glu)
8	g.115418368C>A	CA372064249	TRPS1	c.2785G>T (p.Val929Leu) c.2746G>T (p.Val916Leu) c.119G>T c.2008G>T (p.Val670Leu) c.2758G>T (p.Val920Leu) c.2764G>T (p.Val922Leu)
8	g.115418368C>G	CA372064250	TRPS1	c.2785G>C (p.Val929Leu) c.2746G>C (p.Val916Leu) c.119G>C c.2008G>C (p.Val670Leu) c.2758G>C (p.Val920Leu) c.2764G>C (p.Val922Leu)
8	g.115418368C>T	CA372064251	TRPS1	c.2785G>A (p.Val929Ile) c.2746G>A (p.Val916Ile) c.119G>A c.2008G>A (p.Val670Ile) c.2758G>A (p.Val920Ile) c.2764G>A (p.Val922Ile)
8	g.115418369A=	CA1812857442	TRPS1	c.2784T= (p.Tyr928=) c.2745T= (p.Tyr915=) c.118T= c.2007T= (p.Tyr669=) c.2757T= (p.Tyr919=) c.2763T= (p.Tyr921=)
8	g.115418369A>C	CA372064252	TRPS1	c.2784T>G (p.Tyr928Ter) c.2745T>G (p.Tyr915Ter) c.118T>G c.2007T>G (p.Tyr669Ter) c.2757T>G (p.Tyr919Ter) c.2763T>G (p.Tyr921Ter)
8	g.115418369A>G	CA462631413	TRPS1	c.2784T>C (p.Tyr928=) c.2745T>C (p.Tyr915=) c.118T>C c.2007T>C (p.Tyr669=) c.2757T>C (p.Tyr919=) c.2763T>C (p.Tyr921=)	gnomAD v4
8	g.115418369A>T	CA372064253	TRPS1	c.2784T>A (p.Tyr928Ter) c.2745T>A (p.Tyr915Ter) c.118T>A c.2007T>A (p.Tyr669Ter) c.2757T>A (p.Tyr919Ter) c.2763T>A (p.Tyr921Ter)
8	g.115418369_115418370insG	CA645509481	TRPS1	c.2783_2784insC (p.Val929CysfsTer22) c.2744_2745insC (p.Val916CysfsTer22) c.117_118insC c.2006_2007insC (p.Val670CysfsTer22) c.2756_2757insC (p.Val920CysfsTer22) c.2762_2763insC (p.Val922CysfsTer22)	ClinVar dbSNP
8	g.115418370T>A	CA372064254	TRPS1	c.2783A>T (p.Tyr928Phe) c.2744A>T (p.Tyr915Phe) c.117A>T c.2006A>T (p.Tyr669Phe) c.2756A>T (p.Tyr919Phe) c.2762A>T (p.Tyr921Phe)
8	g.115418370T>C	CA372064255	TRPS1	c.2783A>G (p.Tyr928Cys) c.2744A>G (p.Tyr915Cys) c.117A>G c.2006A>G (p.Tyr669Cys) c.2756A>G (p.Tyr919Cys) c.2762A>G (p.Tyr921Cys)
8	g.115418370T>G	CA372064256	TRPS1	c.2783A>C (p.Tyr928Ser) c.2744A>C (p.Tyr915Ser) c.117A>C c.2006A>C (p.Tyr669Ser) c.2756A>C (p.Tyr919Ser) c.2762A>C (p.Tyr921Ser)
8	g.115418371A>C	CA372064258	TRPS1	c.2782T>G (p.Tyr928Asp) c.2743T>G (p.Tyr915Asp) c.116T>G c.2005T>G (p.Tyr669Asp) c.2755T>G (p.Tyr919Asp) c.2761T>G (p.Tyr921Asp)
8	g.115418371A>G	CA372064259	TRPS1	c.2782T>C (p.Tyr928His) c.2743T>C (p.Tyr915His) c.116T>C c.2005T>C (p.Tyr669His) c.2755T>C (p.Tyr919His) c.2761T>C (p.Tyr921His)
8	g.115418371A>T	CA372064257	TRPS1	c.2782T>A (p.Tyr928Asn) c.2743T>A (p.Tyr915Asn) c.116T>A c.2005T>A (p.Tyr669Asn) c.2755T>A (p.Tyr919Asn) c.2761T>A (p.Tyr921Asn)
8	g.115418372T>A	CA462631414	TRPS1	c.2781A>T (p.Gly927=) c.2742A>T (p.Gly914=) c.115A>T c.2004A>T (p.Gly668=) c.2754A>T (p.Gly918=) c.2760A>T (p.Gly920=)
8	g.115418372T>C	CA462631415	TRPS1	c.2781A>G (p.Gly927=) c.2742A>G (p.Gly914=) c.115A>G c.2004A>G (p.Gly668=) c.2754A>G (p.Gly918=) c.2760A>G (p.Gly920=)
8	g.115418372T>G	CA462631416	TRPS1	c.2781A>C (p.Gly927=) c.2742A>C (p.Gly914=) c.115A>C c.2004A>C (p.Gly668=) c.2754A>C (p.Gly918=) c.2760A>C (p.Gly920=)
8	g.115418373C>A	CA372064260	TRPS1	c.2780G>T (p.Gly927Val) c.2741G>T (p.Gly914Val) c.114G>T c.2003G>T (p.Gly668Val) c.2753G>T (p.Gly918Val) c.2759G>T (p.Gly920Val)
8	g.115418373C>G	CA372064261	TRPS1	c.2780G>C (p.Gly927Ala) c.2741G>C (p.Gly914Ala) c.114G>C c.2003G>C (p.Gly668Ala) c.2753G>C (p.Gly918Ala) c.2759G>C (p.Gly920Ala)
8	g.115418373C>T	CA372064262	TRPS1	c.2780G>A (p.Gly927Glu) c.2741G>A (p.Gly914Glu) c.114G>A c.2003G>A (p.Gly668Glu) c.2753G>A (p.Gly918Glu) c.2759G>A (p.Gly920Glu)
8	g.115418374C>A	CA372064263	TRPS1	c.2779G>T (p.Gly927Ter) c.2740G>T (p.Gly914Ter) c.113G>T c.2002G>T (p.Gly668Ter) c.2752G>T (p.Gly918Ter) c.2758G>T (p.Gly920Ter)
8	g.115418374C=	CA1812857453	TRPS1	c.2779G= (p.Gly927=) c.2740G= (p.Gly914=) c.113G= c.2002G= (p.Gly668=) c.2752G= (p.Gly918=) c.2758G= (p.Gly920=)
8	g.115418374C>G	CA372064264	TRPS1	c.2779G>C (p.Gly927Arg) c.2740G>C (p.Gly914Arg) c.113G>C c.2002G>C (p.Gly668Arg) c.2752G>C (p.Gly918Arg) c.2758G>C (p.Gly920Arg)	COSMIC COSMIC
8	g.115418374C>T	CA372064265	TRPS1	c.2779G>A (p.Gly927Arg) c.2740G>A (p.Gly914Arg) c.113G>A c.2002G>A (p.Gly668Arg) c.2752G>A (p.Gly918Arg) c.2758G>A (p.Gly920Arg)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.115418375G>A	CA4851579	TRPS1	c.2778C>T (p.Gly926=) c.2739C>T (p.Gly913=) c.112C>T c.2001C>T (p.Gly667=) c.2751C>T (p.Gly917=) c.2757C>T (p.Gly919=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418375G>C	CA462631417	TRPS1	c.2778C>G (p.Gly926=) c.2739C>G (p.Gly913=) c.112C>G c.2001C>G (p.Gly667=) c.2751C>G (p.Gly917=) c.2757C>G (p.Gly919=)
8	g.115418375G=	CA1812857459	TRPS1	c.2778C= (p.Gly926=) c.2739C= (p.Gly913=) c.112C= c.2001C= (p.Gly667=) c.2751C= (p.Gly917=) c.2757C= (p.Gly919=)
8	g.115418375G>T	CA4851578	TRPS1	c.2778C>A (p.Gly926=) c.2739C>A (p.Gly913=) c.112C>A c.2001C>A (p.Gly667=) c.2751C>A (p.Gly917=) c.2757C>A (p.Gly919=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418376C>A	CA372064266	TRPS1	c.2777G>T (p.Gly926Val) c.2738G>T (p.Gly913Val) c.111G>T c.2000G>T (p.Gly667Val) c.2750G>T (p.Gly917Val) c.2756G>T (p.Gly919Val)
8	g.115418376C>G	CA372064267	TRPS1	c.2777G>C (p.Gly926Ala) c.2738G>C (p.Gly913Ala) c.111G>C c.2000G>C (p.Gly667Ala) c.2750G>C (p.Gly917Ala) c.2756G>C (p.Gly919Ala)
8	g.115418376C>T	CA372064268	TRPS1	c.2777G>A (p.Gly926Asp) c.2738G>A (p.Gly913Asp) c.111G>A c.2000G>A (p.Gly667Asp) c.2750G>A (p.Gly917Asp) c.2756G>A (p.Gly919Asp)
8	g.115418377C>A	CA372064269	TRPS1	c.2776G>T (p.Gly926Cys) c.2737G>T (p.Gly913Cys) c.110G>T c.1999G>T (p.Gly667Cys) c.2749G>T (p.Gly917Cys) c.2755G>T (p.Gly919Cys)
8	g.115418377C>G	CA372064270	TRPS1	c.2776G>C (p.Gly926Arg) c.2737G>C (p.Gly913Arg) c.110G>C c.1999G>C (p.Gly667Arg) c.2749G>C (p.Gly917Arg) c.2755G>C (p.Gly919Arg)	COSMIC COSMIC
8	g.115418377C>T	CA372064271	TRPS1	c.2776G>A (p.Gly926Ser) c.2737G>A (p.Gly913Ser) c.110G>A c.1999G>A (p.Gly667Ser) c.2749G>A (p.Gly917Ser) c.2755G>A (p.Gly919Ser)
8	g.115418378A>C	CA372064272	TRPS1	c.2775T>G (p.Asn925Lys) c.2736T>G (p.Asn912Lys) c.109T>G c.1998T>G (p.Asn666Lys) c.2748T>G (p.Asn916Lys) c.2754T>G (p.Asn918Lys)
8	g.115418378A>G	CA462631419	TRPS1	c.2775T>C (p.Asn925=) c.2736T>C (p.Asn912=) c.109T>C c.1998T>C (p.Asn666=) c.2748T>C (p.Asn916=) c.2754T>C (p.Asn918=)
8	g.115418378A>T	CA372064273	TRPS1	c.2775T>A (p.Asn925Lys) c.2736T>A (p.Asn912Lys) c.109T>A c.1998T>A (p.Asn666Lys) c.2748T>A (p.Asn916Lys) c.2754T>A (p.Asn918Lys)
8	g.115418379T>A	CA372064274	TRPS1	c.2774A>T (p.Asn925Ile) c.2735A>T (p.Asn912Ile) c.108A>T c.1997A>T (p.Asn666Ile) c.2747A>T (p.Asn916Ile) c.2753A>T (p.Asn918Ile)
8	g.115418379T>C	CA372064276	TRPS1	c.2774A>G (p.Asn925Ser) c.2735A>G (p.Asn912Ser) c.108A>G c.1997A>G (p.Asn666Ser) c.2747A>G (p.Asn916Ser) c.2753A>G (p.Asn918Ser)
8	g.115418379T>G	CA372064275	TRPS1	c.2774A>C (p.Asn925Thr) c.2735A>C (p.Asn912Thr) c.108A>C c.1997A>C (p.Asn666Thr) c.2747A>C (p.Asn916Thr) c.2753A>C (p.Asn918Thr)
8	g.115418380T>A	CA372064277	TRPS1	c.2773A>T (p.Asn925Tyr) c.2734A>T (p.Asn912Tyr) c.107A>T c.1996A>T (p.Asn666Tyr) c.2746A>T (p.Asn916Tyr) c.2752A>T (p.Asn918Tyr)
8	g.115418380T>C	CA372064279	TRPS1	c.2773A>G (p.Asn925Asp) c.2734A>G (p.Asn912Asp) c.107A>G c.1996A>G (p.Asn666Asp) c.2746A>G (p.Asn916Asp) c.2752A>G (p.Asn918Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418380T>G	CA372064278	TRPS1	c.2773A>C (p.Asn925His) c.2734A>C (p.Asn912His) c.107A>C c.1996A>C (p.Asn666His) c.2746A>C (p.Asn916His) c.2752A>C (p.Asn918His)
8	g.115418380T=	CA1812857463	TRPS1	c.2773A= (p.Asn925=) c.2734A= (p.Asn912=) c.107A= c.1996A= (p.Asn666=) c.2746A= (p.Asn916=) c.2752A= (p.Asn918=)
8	g.115418381T>A	CA462631420	TRPS1	c.2772A>T (p.Ala924=) c.2733A>T (p.Ala911=) c.106A>T c.1995A>T (p.Ala665=) c.2745A>T (p.Ala915=) c.2751A>T (p.Ala917=)	gnomAD v4
8	g.115418381T>C	CA462631421	TRPS1	c.2772A>G (p.Ala924=) c.2733A>G (p.Ala911=) c.106A>G c.1995A>G (p.Ala665=) c.2745A>G (p.Ala915=) c.2751A>G (p.Ala917=)
8	g.115418381T>G	CA462631422	TRPS1	c.2772A>C (p.Ala924=) c.2733A>C (p.Ala911=) c.106A>C c.1995A>C (p.Ala665=) c.2745A>C (p.Ala915=) c.2751A>C (p.Ala917=)
8	g.115418382G>A	CA372064280	TRPS1	c.2771C>T (p.Ala924Val) c.2732C>T (p.Ala911Val) c.105C>T c.1994C>T (p.Ala665Val) c.2744C>T (p.Ala915Val) c.2750C>T (p.Ala917Val)
8	g.115418382G>C	CA372064282	TRPS1	c.2771C>G (p.Ala924Gly) c.2732C>G (p.Ala911Gly) c.105C>G c.1994C>G (p.Ala665Gly) c.2744C>G (p.Ala915Gly) c.2750C>G (p.Ala917Gly)
8	g.115418382G>T	CA372064281	TRPS1	c.2771C>A (p.Ala924Glu) c.2732C>A (p.Ala911Glu) c.105C>A c.1994C>A (p.Ala665Glu) c.2744C>A (p.Ala915Glu) c.2750C>A (p.Ala917Glu)
8	g.115418383C>A	CA372064283	TRPS1	c.2770G>T (p.Ala924Ser) c.2731G>T (p.Ala911Ser) c.104G>T c.1993G>T (p.Ala665Ser) c.2743G>T (p.Ala915Ser) c.2749G>T (p.Ala917Ser)
8	g.115418383C>G	CA372064284	TRPS1	c.2770G>C (p.Ala924Pro) c.2731G>C (p.Ala911Pro) c.104G>C c.1993G>C (p.Ala665Pro) c.2743G>C (p.Ala915Pro) c.2749G>C (p.Ala917Pro)
8	g.115418383C>T	CA372064285	TRPS1	c.2770G>A (p.Ala924Thr) c.2731G>A (p.Ala911Thr) c.104G>A c.1993G>A (p.Ala665Thr) c.2743G>A (p.Ala915Thr) c.2749G>A (p.Ala917Thr)
8	g.115418384A=	CA1812857468	TRPS1	c.2769T= (p.Asn923=) c.2730T= (p.Asn910=) c.103T= c.1992T= (p.Asn664=) c.2742T= (p.Asn914=) c.2748T= (p.Asn916=)
8	g.115418384A>C	CA372064286	TRPS1	c.2769T>G (p.Asn923Lys) c.2730T>G (p.Asn910Lys) c.103T>G c.1992T>G (p.Asn664Lys) c.2742T>G (p.Asn914Lys) c.2748T>G (p.Asn916Lys)	ClinVar dbSNP
8	g.115418384A>G	CA4851580	TRPS1	c.2769T>C (p.Asn923=) c.2730T>C (p.Asn910=) c.103T>C c.1992T>C (p.Asn664=) c.2742T>C (p.Asn914=) c.2748T>C (p.Asn916=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418384A>T	CA372064287	TRPS1	c.2769T>A (p.Asn923Lys) c.2730T>A (p.Asn910Lys) c.103T>A c.1992T>A (p.Asn664Lys) c.2742T>A (p.Asn914Lys) c.2748T>A (p.Asn916Lys)
8	g.115418385T>A	CA372064288	TRPS1	c.2768A>T (p.Asn923Ile) c.2729A>T (p.Asn910Ile) c.102A>T c.1991A>T (p.Asn664Ile) c.2741A>T (p.Asn914Ile) c.2747A>T (p.Asn916Ile)
8	g.115418385T>C	CA372064289	TRPS1	c.2768A>G (p.Asn923Ser) c.2729A>G (p.Asn910Ser) c.102A>G c.1991A>G (p.Asn664Ser) c.2741A>G (p.Asn914Ser) c.2747A>G (p.Asn916Ser)
8	g.115418385T>G	CA372064290	TRPS1	c.2768A>C (p.Asn923Thr) c.2729A>C (p.Asn910Thr) c.102A>C c.1991A>C (p.Asn664Thr) c.2741A>C (p.Asn914Thr) c.2747A>C (p.Asn916Thr)
8	g.115418386T>A	CA372064291	TRPS1	c.2767A>T (p.Asn923Tyr) c.2728A>T (p.Asn910Tyr) c.101A>T c.1990A>T (p.Asn664Tyr) c.2740A>T (p.Asn914Tyr) c.2746A>T (p.Asn916Tyr)
8	g.115418386T>C	CA372064292	TRPS1	c.2767A>G (p.Asn923Asp) c.2728A>G (p.Asn910Asp) c.101A>G c.1990A>G (p.Asn664Asp) c.2740A>G (p.Asn914Asp) c.2746A>G (p.Asn916Asp)
8	g.115418386T>G	CA372064293	TRPS1	c.2767A>C (p.Asn923His) c.2728A>C (p.Asn910His) c.101A>C c.1990A>C (p.Asn664His) c.2740A>C (p.Asn914His) c.2746A>C (p.Asn916His)
8	g.115418387C>A	CA372064295	TRPS1	c.2766G>T (p.Lys922Asn) c.2727G>T (p.Lys909Asn) c.100G>T c.1989G>T (p.Lys663Asn) c.2739G>T (p.Lys913Asn) c.2745G>T (p.Lys915Asn)
8	g.115418387C=	CA1812857476	TRPS1	c.2766G= (p.Lys922=) c.2727G= (p.Lys909=) c.100G= c.1989G= (p.Lys663=) c.2739G= (p.Lys913=) c.2745G= (p.Lys915=)
8	g.115418387C>G	CA372064294	TRPS1	c.2766G>C (p.Lys922Asn) c.2727G>C (p.Lys909Asn) c.100G>C c.1989G>C (p.Lys663Asn) c.2739G>C (p.Lys913Asn) c.2745G>C (p.Lys915Asn)
8	g.115418387C>T	CA4851581	TRPS1	c.2766G>A (p.Lys922=) c.2727G>A (p.Lys909=) c.100G>A c.1989G>A (p.Lys663=) c.2739G>A (p.Lys913=) c.2745G>A (p.Lys915=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418388T>A	CA372064296	TRPS1	c.2765A>T (p.Lys922Met) c.2726A>T (p.Lys909Met) c.99A>T c.1988A>T (p.Lys663Met) c.2738A>T (p.Lys913Met) c.2744A>T (p.Lys915Met)	COSMIC COSMIC
8	g.115418388T>C	CA372064297	TRPS1	c.2765A>G (p.Lys922Arg) c.2726A>G (p.Lys909Arg) c.99A>G c.1988A>G (p.Lys663Arg) c.2738A>G (p.Lys913Arg) c.2744A>G (p.Lys915Arg)	COSMIC COSMIC
8	g.115418388T>G	CA372064298	TRPS1	c.2765A>C (p.Lys922Thr) c.2726A>C (p.Lys909Thr) c.99A>C c.1988A>C (p.Lys663Thr) c.2738A>C (p.Lys913Thr) c.2744A>C (p.Lys915Thr)
8	g.115418389T>A	CA372064299	TRPS1	c.2764A>T (p.Lys922Ter) c.2725A>T (p.Lys909Ter) c.98A>T c.1987A>T (p.Lys663Ter) c.2737A>T (p.Lys913Ter) c.2743A>T (p.Lys915Ter)
8	g.115418389T>C	CA372064300	TRPS1	c.2764A>G (p.Lys922Glu) c.2725A>G (p.Lys909Glu) c.98A>G c.1987A>G (p.Lys663Glu) c.2737A>G (p.Lys913Glu) c.2743A>G (p.Lys915Glu)
8	g.115418389T>G	CA372064301	TRPS1	c.2764A>C (p.Lys922Gln) c.2725A>C (p.Lys909Gln) c.98A>C c.1987A>C (p.Lys663Gln) c.2737A>C (p.Lys913Gln) c.2743A>C (p.Lys915Gln)
8	g.115418390T>A	CA462631423	TRPS1	c.2763A>T (p.Arg921=) c.2724A>T (p.Arg908=) c.97A>T c.1986A>T (p.Arg662=) c.2736A>T (p.Arg912=) c.2742A>T (p.Arg914=)
8	g.115418390T>C	CA4851582	TRPS1	c.2763A>G (p.Arg921=) c.2724A>G (p.Arg908=) c.97A>G c.1986A>G (p.Arg662=) c.2736A>G (p.Arg912=) c.2742A>G (p.Arg914=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418390T>G	CA462631424	TRPS1	c.2763A>C (p.Arg921=) c.2724A>C (p.Arg908=) c.97A>C c.1986A>C (p.Arg662=) c.2736A>C (p.Arg912=) c.2742A>C (p.Arg914=)
8	g.115418390T=	CA1812857484	TRPS1	c.2763A= (p.Arg921=) c.2724A= (p.Arg908=) c.97A= c.1986A= (p.Arg662=) c.2736A= (p.Arg912=) c.2742A= (p.Arg914=)
8	g.115418391C>A	CA372064302	TRPS1	c.2762G>T (p.Arg921Leu) c.2723G>T (p.Arg908Leu) c.96G>T c.1985G>T (p.Arg662Leu) c.2735G>T (p.Arg912Leu) c.2741G>T (p.Arg914Leu)
8	g.115418391C=	CA1812857490	TRPS1	c.2762G= (p.Arg921=) c.2723G= (p.Arg908=) c.96G= c.1985G= (p.Arg662=) c.2735G= (p.Arg912=) c.2741G= (p.Arg914=)
8	g.115418391C>G	CA372064303	TRPS1	c.2762G>C (p.Arg921Pro) c.2723G>C (p.Arg908Pro) c.96G>C c.1985G>C (p.Arg662Pro) c.2735G>C (p.Arg912Pro) c.2741G>C (p.Arg914Pro)	ClinVar dbSNP
8	g.115418391C>T	CA117614	TRPS1	c.2762G>A (p.Arg921Gln) c.2723G>A (p.Arg908Gln) c.96G>A c.1985G>A (p.Arg662Gln) c.2735G>A (p.Arg912Gln) c.2741G>A (p.Arg914Gln)	ClinVar dbSNP
8	g.115418392G>A	CA372064305	TRPS1	c.2761C>T (p.Arg921Ter) c.2722C>T (p.Arg908Ter) c.95C>T c.1984C>T (p.Arg662Ter) c.2734C>T (p.Arg912Ter) c.2740C>T (p.Arg914Ter)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8	g.115418392G>C	CA372064304	TRPS1	c.2761C>G (p.Arg921Gly) c.2722C>G (p.Arg908Gly) c.95C>G c.1984C>G (p.Arg662Gly) c.2734C>G (p.Arg912Gly) c.2740C>G (p.Arg914Gly)
8	g.115418392G=	CA1812857496	TRPS1	c.2761C= (p.Arg921=) c.2722C= (p.Arg908=) c.95C= c.1984C= (p.Arg662=) c.2734C= (p.Arg912=) c.2740C= (p.Arg914=)
8	g.115418392G>T	CA4851583	TRPS1	c.2761C>A (p.Arg921=) c.2722C>A (p.Arg908=) c.95C>A c.1984C>A (p.Arg662=) c.2734C>A (p.Arg912=) c.2740C>A (p.Arg914=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418393C>A	CA372064306	TRPS1	c.2760G>T (p.Trp920Cys) c.2721G>T (p.Trp907Cys) c.94G>T c.1983G>T (p.Trp661Cys) c.2733G>T (p.Trp911Cys) c.2739G>T (p.Trp913Cys)
8	g.115418393C>G	CA372064307	TRPS1	c.2760G>C (p.Trp920Cys) c.2721G>C (p.Trp907Cys) c.94G>C c.1983G>C (p.Trp661Cys) c.2733G>C (p.Trp911Cys) c.2739G>C (p.Trp913Cys)
8	g.115418393C>T	CA372064308	TRPS1	c.2760G>A (p.Trp920Ter) c.2721G>A (p.Trp907Ter) c.94G>A c.1983G>A (p.Trp661Ter) c.2733G>A (p.Trp911Ter) c.2739G>A (p.Trp913Ter)
8	g.115418394C>A	CA372064309	TRPS1	c.2759G>T (p.Trp920Leu) c.2720G>T (p.Trp907Leu) c.93G>T c.1982G>T (p.Trp661Leu) c.2732G>T (p.Trp911Leu) c.2738G>T (p.Trp913Leu)
8	g.115418394C>G	CA372064310	TRPS1	c.2759G>C (p.Trp920Ser) c.2720G>C (p.Trp907Ser) c.93G>C c.1982G>C (p.Trp661Ser) c.2732G>C (p.Trp911Ser) c.2738G>C (p.Trp913Ser)
8	g.115418394C>T	CA372064311	TRPS1	c.2759G>A (p.Trp920Ter) c.2720G>A (p.Trp907Ter) c.93G>A c.1982G>A (p.Trp661Ter) c.2732G>A (p.Trp911Ter) c.2738G>A (p.Trp913Ter)
8	g.115418395A=	CA1812857505	TRPS1	c.2758T= (p.Trp920=) c.2719T= (p.Trp907=) c.92T= c.1981T= (p.Trp661=) c.2731T= (p.Trp911=) c.2737T= (p.Trp913=)
8	g.115418395A>C	CA372064312	TRPS1	c.2758T>G (p.Trp920Gly) c.2719T>G (p.Trp907Gly) c.92T>G c.1981T>G (p.Trp661Gly) c.2731T>G (p.Trp911Gly) c.2737T>G (p.Trp913Gly)
8	g.115418395A>G	CA372064313	TRPS1	c.2758T>C (p.Trp920Arg) c.2719T>C (p.Trp907Arg) c.92T>C c.1981T>C (p.Trp661Arg) c.2731T>C (p.Trp911Arg) c.2737T>C (p.Trp913Arg)	ClinVar dbSNP
8	g.115418395A>T	CA372064314	TRPS1	c.2758T>A (p.Trp920Arg) c.2719T>A (p.Trp907Arg) c.92T>A c.1981T>A (p.Trp661Arg) c.2731T>A (p.Trp911Arg) c.2737T>A (p.Trp913Arg)
8	g.115418401_115418402dup	CA2697550110	TRPS1	c.2757_2758dup (p.Trp920SerfsTer28) c.2718_2719dup (p.Trp907SerfsTer28) c.91_92dup c.1980_1981dup (p.Trp661SerfsTer28) c.2730_2731dup (p.Trp911SerfsTer28) c.2736_2737dup (p.Trp913SerfsTer28)	ClinVar
8	g.115418401_115418402del	CA2579233411	TRPS1	c.2757_2758del (p.Trp920AlafsTer?) c.2718_2719del (p.Trp907AlafsTer?) c.91_92del c.1980_1981del (p.Trp661AlafsTer?) c.2730_2731del (p.Trp911AlafsTer?) c.2736_2737del (p.Trp913AlafsTer?)	ClinVar dbSNP
8	g.115418396G>A	CA462631425	TRPS1	c.2757C>T (p.Leu919=) c.2718C>T (p.Leu906=) c.91C>T c.1980C>T (p.Leu660=) c.2730C>T (p.Leu910=) c.2736C>T (p.Leu912=)
8	g.115418396G>C	CA462631426	TRPS1	c.2757C>G (p.Leu919=) c.2718C>G (p.Leu906=) c.91C>G c.1980C>G (p.Leu660=) c.2730C>G (p.Leu910=) c.2736C>G (p.Leu912=)	dbSNP gnomAD v4
8	g.115418396G=	CA1812857512	TRPS1	c.2757C= (p.Leu919=) c.2718C= (p.Leu906=) c.91C= c.1980C= (p.Leu660=) c.2730C= (p.Leu910=) c.2736C= (p.Leu912=)
8	g.115418396G>T	CA462631427	TRPS1	c.2757C>A (p.Leu919=) c.2718C>A (p.Leu906=) c.91C>A c.1980C>A (p.Leu660=) c.2730C>A (p.Leu910=) c.2736C>A (p.Leu912=)
8	g.115418397A=	CA1812857520	TRPS1	c.2756T= (p.Leu919=) c.2717T= (p.Leu906=) c.90T= c.1979T= (p.Leu660=) c.2729T= (p.Leu910=) c.2735T= (p.Leu912=)
8	g.115418397A>C	CA372064315	TRPS1	c.2756T>G (p.Leu919Arg) c.2717T>G (p.Leu906Arg) c.90T>G c.1979T>G (p.Leu660Arg) c.2729T>G (p.Leu910Arg) c.2735T>G (p.Leu912Arg)
8	g.115418397A>G	CA372064316	TRPS1	c.2756T>C (p.Leu919Pro) c.2717T>C (p.Leu906Pro) c.90T>C c.1979T>C (p.Leu660Pro) c.2729T>C (p.Leu910Pro) c.2735T>C (p.Leu912Pro)	ClinVar dbSNP
8	g.115418397A>T	CA372064317	TRPS1	c.2756T>A (p.Leu919His) c.2717T>A (p.Leu906His) c.90T>A c.1979T>A (p.Leu660His) c.2729T>A (p.Leu910His) c.2735T>A (p.Leu912His)
8	g.115418398G>A	CA372064320	TRPS1	c.2755C>T (p.Leu919Phe) c.2716C>T (p.Leu906Phe) c.89C>T c.1978C>T (p.Leu660Phe) c.2728C>T (p.Leu910Phe) c.2734C>T (p.Leu912Phe)
8	g.115418398G>C	CA372064318	TRPS1	c.2755C>G (p.Leu919Val) c.2716C>G (p.Leu906Val) c.89C>G c.1978C>G (p.Leu660Val) c.2728C>G (p.Leu910Val) c.2734C>G (p.Leu912Val)	ClinVar dbSNP
8	g.115418398G=	CA1812857527	TRPS1	c.2755C= (p.Leu919=) c.2716C= (p.Leu906=) c.89C= c.1978C= (p.Leu660=) c.2728C= (p.Leu910=) c.2734C= (p.Leu912=)
8	g.115418398G>T	CA372064319	TRPS1	c.2755C>A (p.Leu919Ile) c.2716C>A (p.Leu906Ile) c.89C>A c.1978C>A (p.Leu660Ile) c.2728C>A (p.Leu910Ile) c.2734C>A (p.Leu912Ile)
8	g.115418399A>C	CA462631429	TRPS1	c.2754T>G (p.Ser918=) c.2715T>G (p.Ser905=) c.88T>G c.1977T>G (p.Ser659=) c.2727T>G (p.Ser909=) c.2733T>G (p.Ser911=)
8	g.115418399A>G	CA462631430	TRPS1	c.2754T>C (p.Ser918=) c.2715T>C (p.Ser905=) c.88T>C c.1977T>C (p.Ser659=) c.2727T>C (p.Ser909=) c.2733T>C (p.Ser911=)
8	g.115418399A>T	CA462631431	TRPS1	c.2754T>A (p.Ser918=) c.2715T>A (p.Ser905=) c.88T>A c.1977T>A (p.Ser659=) c.2727T>A (p.Ser909=) c.2733T>A (p.Ser911=)
8	g.115418400G>A	CA372064321	TRPS1	c.2753C>T (p.Ser918Phe) c.2714C>T (p.Ser905Phe) c.87C>T c.1976C>T (p.Ser659Phe) c.2726C>T (p.Ser909Phe) c.2732C>T (p.Ser911Phe)	ClinVar
8	g.115418400G>C	CA372064322	TRPS1	c.2753C>G (p.Ser918Cys) c.2714C>G (p.Ser905Cys) c.87C>G c.1976C>G (p.Ser659Cys) c.2726C>G (p.Ser909Cys) c.2732C>G (p.Ser911Cys)	gnomAD v4
8	g.115418400G>T	CA372064323	TRPS1	c.2753C>A (p.Ser918Tyr) c.2714C>A (p.Ser905Tyr) c.87C>A c.1976C>A (p.Ser659Tyr) c.2726C>A (p.Ser909Tyr) c.2732C>A (p.Ser911Tyr)
8	g.115418401A>C	CA372064324	TRPS1	c.2752T>G (p.Ser918Ala) c.2713T>G (p.Ser905Ala) c.86T>G c.1975T>G (p.Ser659Ala) c.2725T>G (p.Ser909Ala) c.2731T>G (p.Ser911Ala)
8	g.115418401A>G	CA372064325	TRPS1	c.2752T>C (p.Ser918Pro) c.2713T>C (p.Ser905Pro) c.86T>C c.1975T>C (p.Ser659Pro) c.2725T>C (p.Ser909Pro) c.2731T>C (p.Ser911Pro)
8	g.115418401A>T	CA372064326	TRPS1	c.2752T>A (p.Ser918Thr) c.2713T>A (p.Ser905Thr) c.86T>A c.1975T>A (p.Ser659Thr) c.2725T>A (p.Ser909Thr) c.2731T>A (p.Ser911Thr)
8	g.115418402G>A	CA462631432	TRPS1	c.2751C>T (p.Thr917=) c.2712C>T (p.Thr904=) c.85C>T c.1974C>T (p.Thr658=) c.2724C>T (p.Thr908=) c.2730C>T (p.Thr910=)	dbSNP
8	g.115418402G>C	CA462631433	TRPS1	c.2751C>G (p.Thr917=) c.2712C>G (p.Thr904=) c.85C>G c.1974C>G (p.Thr658=) c.2724C>G (p.Thr908=) c.2730C>G (p.Thr910=)	dbSNP
8	g.115418402G=	CA1812857529	TRPS1	c.2751C= (p.Thr917=) c.2712C= (p.Thr904=) c.85C= c.1974C= (p.Thr658=) c.2724C= (p.Thr908=) c.2730C= (p.Thr910=)
8	g.115418402G>T	CA462631434	TRPS1	c.2751C>A (p.Thr917=) c.2712C>A (p.Thr904=) c.85C>A c.1974C>A (p.Thr658=) c.2724C>A (p.Thr908=) c.2730C>A (p.Thr910=)	dbSNP gnomAD v2 gnomAD v4
8	g.115418403G>A	CA372064327	TRPS1	c.2750C>T (p.Thr917Ile) c.2711C>T (p.Thr904Ile) c.84C>T c.1973C>T (p.Thr658Ile) c.2723C>T (p.Thr908Ile) c.2729C>T (p.Thr910Ile)	ClinVar
8	g.115418403G>C	CA372064328	TRPS1	c.2750C>G (p.Thr917Ser) c.2711C>G (p.Thr904Ser) c.84C>G c.1973C>G (p.Thr658Ser) c.2723C>G (p.Thr908Ser) c.2729C>G (p.Thr910Ser)
8	g.115418403G>T	CA372064329	TRPS1	c.2750C>A (p.Thr917Asn) c.2711C>A (p.Thr904Asn) c.84C>A c.1973C>A (p.Thr658Asn) c.2723C>A (p.Thr908Asn) c.2729C>A (p.Thr910Asn)
8	g.115418404T>A	CA372064330	TRPS1	c.2749A>T (p.Thr917Ser) c.2710A>T (p.Thr904Ser) c.83A>T c.1972A>T (p.Thr658Ser) c.2722A>T (p.Thr908Ser) c.2728A>T (p.Thr910Ser)
8	g.115418404T>C	CA372064331	TRPS1	c.2749A>G (p.Thr917Ala) c.2710A>G (p.Thr904Ala) c.83A>G c.1972A>G (p.Thr658Ala) c.2722A>G (p.Thr908Ala) c.2728A>G (p.Thr910Ala)
8	g.115418404T>G	CA372064332	TRPS1	c.2749A>C (p.Thr917Pro) c.2710A>C (p.Thr904Pro) c.83A>C c.1972A>C (p.Thr658Pro) c.2722A>C (p.Thr908Pro) c.2728A>C (p.Thr910Pro)
8	g.115418405C>A	CA372064333	TRPS1	c.2748G>T (p.Lys916Asn) c.2709G>T (p.Lys903Asn) c.82G>T c.1971G>T (p.Lys657Asn) c.2721G>T (p.Lys907Asn) c.2727G>T (p.Lys909Asn)
8	g.115418405C>G	CA372064334	TRPS1	c.2748G>C (p.Lys916Asn) c.2709G>C (p.Lys903Asn) c.82G>C c.1971G>C (p.Lys657Asn) c.2721G>C (p.Lys907Asn) c.2727G>C (p.Lys909Asn)
8	g.115418405C>T	CA462631435	TRPS1	c.2748G>A (p.Lys916=) c.2709G>A (p.Lys903=) c.82G>A c.1971G>A (p.Lys657=) c.2721G>A (p.Lys907=) c.2727G>A (p.Lys909=)
8	g.115418406T>A	CA372064335	TRPS1	c.2747A>T (p.Lys916Met) c.2708A>T (p.Lys903Met) c.81A>T c.1970A>T (p.Lys657Met) c.2720A>T (p.Lys907Met) c.2726A>T (p.Lys909Met)
8	g.115418406T>C	CA372064337	TRPS1	c.2747A>G (p.Lys916Arg) c.2708A>G (p.Lys903Arg) c.81A>G c.1970A>G (p.Lys657Arg) c.2720A>G (p.Lys907Arg) c.2726A>G (p.Lys909Arg)
8	g.115418406T>G	CA372064336	TRPS1	c.2747A>C (p.Lys916Thr) c.2708A>C (p.Lys903Thr) c.81A>C c.1970A>C (p.Lys657Thr) c.2720A>C (p.Lys907Thr) c.2726A>C (p.Lys909Thr)
8	g.115418407T>A	CA372064338	TRPS1	c.2746A>T (p.Lys916Ter) c.2707A>T (p.Lys903Ter) c.80A>T c.1969A>T (p.Lys657Ter) c.2719A>T (p.Lys907Ter) c.2725A>T (p.Lys909Ter)
8	g.115418407T>C	CA372064339	TRPS1	c.2746A>G (p.Lys916Glu) c.2707A>G (p.Lys903Glu) c.80A>G c.1969A>G (p.Lys657Glu) c.2719A>G (p.Lys907Glu) c.2725A>G (p.Lys909Glu)
8	g.115418407T>G	CA372064340	TRPS1	c.2746A>C (p.Lys916Gln) c.2707A>C (p.Lys903Gln) c.80A>C c.1969A>C (p.Lys657Gln) c.2719A>C (p.Lys907Gln) c.2725A>C (p.Lys909Gln)
8	g.115418408T>A	CA462631436	TRPS1	c.2745A>T (p.Thr915=) c.2706A>T (p.Thr902=) c.79A>T c.1968A>T (p.Thr656=) c.2718A>T (p.Thr906=) c.2724A>T (p.Thr908=)
8	g.115418408T>C	CA4851584	TRPS1	c.2745A>G (p.Thr915=) c.2706A>G (p.Thr902=) c.79A>G c.1968A>G (p.Thr656=) c.2718A>G (p.Thr906=) c.2724A>G (p.Thr908=)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418408T>G	CA462631437	TRPS1	c.2745A>C (p.Thr915=) c.2706A>C (p.Thr902=) c.79A>C c.1968A>C (p.Thr656=) c.2718A>C (p.Thr906=) c.2724A>C (p.Thr908=)
8	g.115418408T=	CA1812857531	TRPS1	c.2745A= (p.Thr915=) c.2706A= (p.Thr902=) c.79A= c.1968A= (p.Thr656=) c.2718A= (p.Thr906=) c.2724A= (p.Thr908=)
8	g.115418409G>A	CA184471403	TRPS1	c.2744C>T (p.Thr915Ile) c.2705C>T (p.Thr902Ile) c.78C>T c.1967C>T (p.Thr656Ile) c.2717C>T (p.Thr906Ile) c.2723C>T (p.Thr908Ile)	dbSNP
8	g.115418409G>C	CA372064341	TRPS1	c.2744C>G (p.Thr915Arg) c.2705C>G (p.Thr902Arg) c.78C>G c.1967C>G (p.Thr656Arg) c.2717C>G (p.Thr906Arg) c.2723C>G (p.Thr908Arg)
8	g.115418409G=	CA1812857535	TRPS1	c.2744C= (p.Thr915=) c.2705C= (p.Thr902=) c.78C= c.1967C= (p.Thr656=) c.2717C= (p.Thr906=) c.2723C= (p.Thr908=)
8	g.115418409G>T	CA372064342	TRPS1	c.2744C>A (p.Thr915Lys) c.2705C>A (p.Thr902Lys) c.78C>A c.1967C>A (p.Thr656Lys) c.2717C>A (p.Thr906Lys) c.2723C>A (p.Thr908Lys)
8	g.115418410T>A	CA372064343	TRPS1	c.2743A>T (p.Thr915Ser) c.2704A>T (p.Thr902Ser) c.77A>T c.1966A>T (p.Thr656Ser) c.2716A>T (p.Thr906Ser) c.2722A>T (p.Thr908Ser)
8	g.115418410T>C	CA372064344	TRPS1	c.2743A>G (p.Thr915Ala) c.2704A>G (p.Thr902Ala) c.77A>G c.1966A>G (p.Thr656Ala) c.2716A>G (p.Thr906Ala) c.2722A>G (p.Thr908Ala)	ClinVar dbSNP gnomAD v4
8	g.115418410T>G	CA372064345	TRPS1	c.2743A>C (p.Thr915Pro) c.2704A>C (p.Thr902Pro) c.77A>C c.1966A>C (p.Thr656Pro) c.2716A>C (p.Thr906Pro) c.2722A>C (p.Thr908Pro)
8	g.115418411G>A	CA462631440	TRPS1	c.2742C>T (p.Thr914=) c.2703C>T (p.Thr901=) c.76C>T c.1965C>T (p.Thr655=) c.2715C>T (p.Thr905=) c.2721C>T (p.Thr907=)
8	g.115418411G>C	CA462631439	TRPS1	c.2742C>G (p.Thr914=) c.2703C>G (p.Thr901=) c.76C>G c.1965C>G (p.Thr655=) c.2715C>G (p.Thr905=) c.2721C>G (p.Thr907=)
8	g.115418411G>T	CA462631438	TRPS1	c.2742C>A (p.Thr914=) c.2703C>A (p.Thr901=) c.76C>A c.1965C>A (p.Thr655=) c.2715C>A (p.Thr905=) c.2721C>A (p.Thr907=)
8	g.115418412G>A	CA372064346	TRPS1	c.2741C>T (p.Thr914Ile) c.2702C>T (p.Thr901Ile) c.75C>T c.1964C>T (p.Thr655Ile) c.2714C>T (p.Thr905Ile) c.2720C>T (p.Thr907Ile)
8	g.115418412G>C	CA372064347	TRPS1	c.2741C>G (p.Thr914Ser) c.2702C>G (p.Thr901Ser) c.75C>G c.1964C>G (p.Thr655Ser) c.2714C>G (p.Thr905Ser) c.2720C>G (p.Thr907Ser)
8	g.115418412G>T	CA372064348	TRPS1	c.2741C>A (p.Thr914Asn) c.2702C>A (p.Thr901Asn) c.75C>A c.1964C>A (p.Thr655Asn) c.2714C>A (p.Thr905Asn) c.2720C>A (p.Thr907Asn)
8	g.115418413T>A	CA372064349	TRPS1	c.2740A>T (p.Thr914Ser) c.2701A>T (p.Thr901Ser) c.74A>T c.1963A>T (p.Thr655Ser) c.2713A>T (p.Thr905Ser) c.2719A>T (p.Thr907Ser)
8	g.115418413T>C	CA372064350	TRPS1	c.2740A>G (p.Thr914Ala) c.2701A>G (p.Thr901Ala) c.74A>G c.1963A>G (p.Thr655Ala) c.2713A>G (p.Thr905Ala) c.2719A>G (p.Thr907Ala)
8	g.115418413T>G	CA117610	TRPS1	c.2740A>C (p.Thr914Pro) c.2701A>C (p.Thr901Pro) c.74A>C c.1963A>C (p.Thr655Pro) c.2713A>C (p.Thr905Pro) c.2719A>C (p.Thr907Pro)	ClinVar dbSNP
8	g.115418413T=	CA1812857540	TRPS1	c.2740A= (p.Thr914=) c.2701A= (p.Thr901=) c.74A= c.1963A= (p.Thr655=) c.2713A= (p.Thr905=) c.2719A= (p.Thr907=)
8	g.115418414C>A	CA462631441	TRPS1	c.2739G>T (p.Leu913=) c.2700G>T (p.Leu900=) c.73G>T c.1962G>T (p.Leu654=) c.2712G>T (p.Leu904=) c.2718G>T (p.Leu906=)
8	g.115418414C>G	CA462631442	TRPS1	c.2739G>C (p.Leu913=) c.2700G>C (p.Leu900=) c.73G>C c.1962G>C (p.Leu654=) c.2712G>C (p.Leu904=) c.2718G>C (p.Leu906=)
8	g.115418414C>T	CA462631443	TRPS1	c.2739G>A (p.Leu913=) c.2700G>A (p.Leu900=) c.73G>A c.1962G>A (p.Leu654=) c.2712G>A (p.Leu904=) c.2718G>A (p.Leu906=)
8	g.115418415A>C	CA372064351	TRPS1	c.2738T>G (p.Leu913Arg) c.2699T>G (p.Leu900Arg) c.72T>G c.1961T>G (p.Leu654Arg) c.2711T>G (p.Leu904Arg) c.2717T>G (p.Leu906Arg)
8	g.115418415A>G	CA372064352	TRPS1	c.2738T>C (p.Leu913Pro) c.2699T>C (p.Leu900Pro) c.72T>C c.1961T>C (p.Leu654Pro) c.2711T>C (p.Leu904Pro) c.2717T>C (p.Leu906Pro)
8	g.115418415A>T	CA372064353	TRPS1	c.2738T>A (p.Leu913Gln) c.2699T>A (p.Leu900Gln) c.72T>A c.1961T>A (p.Leu654Gln) c.2711T>A (p.Leu904Gln) c.2717T>A (p.Leu906Gln)	gnomAD v4
8	g.115418415dup	CA2740095131	TRPS1	c.2738dup (p.Thr914AspfsTer?) c.2699dup (p.Thr901AspfsTer?) c.72dup c.1961dup (p.Thr655AspfsTer?) c.2711dup (p.Thr905AspfsTer?) c.2717dup (p.Thr907AspfsTer?)	ClinVar
8	g.115418416G>A	CA462631444	TRPS1	c.2737C>T (p.Leu913=) c.2698C>T (p.Leu900=) c.71C>T c.1960C>T (p.Leu654=) c.2710C>T (p.Leu904=) c.2716C>T (p.Leu906=)
8	g.115418416G>C	CA372064354	TRPS1	c.2737C>G (p.Leu913Val) c.2698C>G (p.Leu900Val) c.71C>G c.1960C>G (p.Leu654Val) c.2710C>G (p.Leu904Val) c.2716C>G (p.Leu906Val)
8	g.115418416G>T	CA372064355	TRPS1	c.2737C>A (p.Leu913Met) c.2698C>A (p.Leu900Met) c.71C>A c.1960C>A (p.Leu654Met) c.2710C>A (p.Leu904Met) c.2716C>A (p.Leu906Met)
8	g.115418417G>A	CA462631445	TRPS1	c.2736C>T (p.Cys912=) c.2697C>T (p.Cys899=) c.70C>T c.1959C>T (p.Cys653=) c.2709C>T (p.Cys903=) c.2715C>T (p.Cys905=)	dbSNP
8	g.115418417G>C	CA372064356	TRPS1	c.2736C>G (p.Cys912Trp) c.2697C>G (p.Cys899Trp) c.70C>G c.1959C>G (p.Cys653Trp) c.2709C>G (p.Cys903Trp) c.2715C>G (p.Cys905Trp)
8	g.115418417G=	CA1812857545	TRPS1	c.2736C= (p.Cys912=) c.2697C= (p.Cys899=) c.70C= c.1959C= (p.Cys653=) c.2709C= (p.Cys903=) c.2715C= (p.Cys905=)
8	g.115418417G>T	CA372064357	TRPS1	c.2736C>A (p.Cys912Ter) c.2697C>A (p.Cys899Ter) c.70C>A c.1959C>A (p.Cys653Ter) c.2709C>A (p.Cys903Ter) c.2715C>A (p.Cys905Ter)
8	g.115418418C>A	CA372064358	TRPS1	c.2735G>T (p.Cys912Phe) c.2696G>T (p.Cys899Phe) c.69G>T c.1958G>T (p.Cys653Phe) c.2708G>T (p.Cys903Phe) c.2714G>T (p.Cys905Phe)	ClinVar
8	g.115418418C>G	CA372064359	TRPS1	c.2735G>C (p.Cys912Ser) c.2696G>C (p.Cys899Ser) c.69G>C c.1958G>C (p.Cys653Ser) c.2708G>C (p.Cys903Ser) c.2714G>C (p.Cys905Ser)
8	g.115418418C>T	CA372064360	TRPS1	c.2735G>A (p.Cys912Tyr) c.2696G>A (p.Cys899Tyr) c.69G>A c.1958G>A (p.Cys653Tyr) c.2708G>A (p.Cys903Tyr) c.2714G>A (p.Cys905Tyr)	COSMIC COSMIC
8	g.115418419A>C	CA372064363	TRPS1	c.2734T>G (p.Cys912Gly) c.2695T>G (p.Cys899Gly) c.68T>G c.1957T>G (p.Cys653Gly) c.2707T>G (p.Cys903Gly) c.2713T>G (p.Cys905Gly)
8	g.115418419A>G	CA372064362	TRPS1	c.2734T>C (p.Cys912Arg) c.2695T>C (p.Cys899Arg) c.68T>C c.1957T>C (p.Cys653Arg) c.2707T>C (p.Cys903Arg) c.2713T>C (p.Cys905Arg)
8	g.115418419A>T	CA372064361	TRPS1	c.2734T>A (p.Cys912Ser) c.2695T>A (p.Cys899Ser) c.68T>A c.1957T>A (p.Cys653Ser) c.2707T>A (p.Cys903Ser) c.2713T>A (p.Cys905Ser)
8	g.115418420A>C	CA372064364	TRPS1	c.2733T>G (p.Asn911Lys) c.2694T>G (p.Asn898Lys) c.67T>G c.1956T>G (p.Asn652Lys) c.2706T>G (p.Asn902Lys) c.2712T>G (p.Asn904Lys)
8	g.115418420A>G	CA462631446	TRPS1	c.2733T>C (p.Asn911=) c.2694T>C (p.Asn898=) c.67T>C c.1956T>C (p.Asn652=) c.2706T>C (p.Asn902=) c.2712T>C (p.Asn904=)
8	g.115418420A>T	CA372064365	TRPS1	c.2733T>A (p.Asn911Lys) c.2694T>A (p.Asn898Lys) c.67T>A c.1956T>A (p.Asn652Lys) c.2706T>A (p.Asn902Lys) c.2712T>A (p.Asn904Lys)
8	g.115418421T>A	CA372064366	TRPS1	c.2732A>T (p.Asn911Ile) c.2693A>T (p.Asn898Ile) c.66A>T c.1955A>T (p.Asn652Ile) c.2705A>T (p.Asn902Ile) c.2711A>T (p.Asn904Ile)
8	g.115418421T>C	CA372064367	TRPS1	c.2732A>G (p.Asn911Ser) c.2693A>G (p.Asn898Ser) c.66A>G c.1955A>G (p.Asn652Ser) c.2705A>G (p.Asn902Ser) c.2711A>G (p.Asn904Ser)	ClinVar dbSNP
8	g.115418421T>G	CA372064368	TRPS1	c.2732A>C (p.Asn911Thr) c.2693A>C (p.Asn898Thr) c.66A>C c.1955A>C (p.Asn652Thr) c.2705A>C (p.Asn902Thr) c.2711A>C (p.Asn904Thr)
8	g.115418421T=	CA1812857549	TRPS1	c.2732A= (p.Asn911=) c.2693A= (p.Asn898=) c.66A= c.1955A= (p.Asn652=) c.2705A= (p.Asn902=) c.2711A= (p.Asn904=)
8	g.115418422T>A	CA372064369	TRPS1	c.2731A>T (p.Asn911Tyr) c.2692A>T (p.Asn898Tyr) c.65A>T c.1954A>T (p.Asn652Tyr) c.2704A>T (p.Asn902Tyr) c.2710A>T (p.Asn904Tyr)	ClinVar dbSNP
8	g.115418422T>C	CA372064370	TRPS1	c.2731A>G (p.Asn911Asp) c.2692A>G (p.Asn898Asp) c.65A>G c.1954A>G (p.Asn652Asp) c.2704A>G (p.Asn902Asp) c.2710A>G (p.Asn904Asp)
8	g.115418422T>G	CA372064371	TRPS1	c.2731A>C (p.Asn911His) c.2692A>C (p.Asn898His) c.65A>C c.1954A>C (p.Asn652His) c.2704A>C (p.Asn902His) c.2710A>C (p.Asn904His)
8	g.115418422T=	CA1812857555	TRPS1	c.2731A= (p.Asn911=) c.2692A= (p.Asn898=) c.65A= c.1954A= (p.Asn652=) c.2704A= (p.Asn902=) c.2710A= (p.Asn904=)
8	g.115418423G>A	CA462631447	TRPS1	c.2730C>T (p.Ala910=) c.2691C>T (p.Ala897=) c.64C>T c.1953C>T (p.Ala651=) c.2703C>T (p.Ala901=) c.2709C>T (p.Ala903=)
8	g.115418423G>C	CA462631448	TRPS1	c.2730C>G (p.Ala910=) c.2691C>G (p.Ala897=) c.64C>G c.1953C>G (p.Ala651=) c.2703C>G (p.Ala901=) c.2709C>G (p.Ala903=)
8	g.115418423G>T	CA462631449	TRPS1	c.2730C>A (p.Ala910=) c.2691C>A (p.Ala897=) c.64C>A c.1953C>A (p.Ala651=) c.2703C>A (p.Ala901=) c.2709C>A (p.Ala903=)	gnomAD v4
8	g.115418424G>A	CA372064372	TRPS1	c.2729C>T (p.Ala910Val) c.2690C>T (p.Ala897Val) c.63C>T c.1952C>T (p.Ala651Val) c.2702C>T (p.Ala901Val) c.2708C>T (p.Ala903Val)	dbSNP gnomAD v4
8	g.115418424G>C	CA372064373	TRPS1	c.2729C>G (p.Ala910Gly) c.2690C>G (p.Ala897Gly) c.63C>G c.1952C>G (p.Ala651Gly) c.2702C>G (p.Ala901Gly) c.2708C>G (p.Ala903Gly)	gnomAD v4
8	g.115418424G>T	CA372064374	TRPS1	c.2729C>A (p.Ala910Asp) c.2690C>A (p.Ala897Asp) c.63C>A c.1952C>A (p.Ala651Asp) c.2702C>A (p.Ala901Asp) c.2708C>A (p.Ala903Asp)
8	g.115418425C>A	CA372064375	TRPS1	c.2728G>T (p.Ala910Ser) c.2689G>T (p.Ala897Ser) c.62G>T c.1951G>T (p.Ala651Ser) c.2701G>T (p.Ala901Ser) c.2707G>T (p.Ala903Ser)
8	g.115418425C>G	CA372064376	TRPS1	c.2728G>C (p.Ala910Pro) c.2689G>C (p.Ala897Pro) c.62G>C c.1951G>C (p.Ala651Pro) c.2701G>C (p.Ala901Pro) c.2707G>C (p.Ala903Pro)
8	g.115418425C>T	CA372064377	TRPS1	c.2728G>A (p.Ala910Thr) c.2689G>A (p.Ala897Thr) c.62G>A c.1951G>A (p.Ala651Thr) c.2701G>A (p.Ala901Thr) c.2707G>A (p.Ala903Thr)
8	g.115418426A>C	CA372064378	TRPS1	c.2727T>G (p.Cys909Trp) c.2688T>G (p.Cys896Trp) c.61T>G c.1950T>G (p.Cys650Trp) c.2700T>G (p.Cys900Trp) c.2706T>G (p.Cys902Trp)
8	g.115418426A>G	CA462631450	TRPS1	c.2727T>C (p.Cys909=) c.2688T>C (p.Cys896=) c.61T>C c.1950T>C (p.Cys650=) c.2700T>C (p.Cys900=) c.2706T>C (p.Cys902=)
8	g.115418426A>T	CA372064379	TRPS1	c.2727T>A (p.Cys909Ter) c.2688T>A (p.Cys896Ter) c.61T>A c.1950T>A (p.Cys650Ter) c.2700T>A (p.Cys900Ter) c.2706T>A (p.Cys902Ter)
8	g.115418427C>A	CA372064380	TRPS1	c.2726G>T (p.Cys909Phe) c.2687G>T (p.Cys896Phe) c.60G>T c.1949G>T (p.Cys650Phe) c.2699G>T (p.Cys900Phe) c.2705G>T (p.Cys902Phe)
8	g.115418427C=	CA1812857560	TRPS1	c.2726G= (p.Cys909=) c.2687G= (p.Cys896=) c.60G= c.1949G= (p.Cys650=) c.2699G= (p.Cys900=) c.2705G= (p.Cys902=)
8	g.115418427C>G	CA372064381	TRPS1	c.2726G>C (p.Cys909Ser) c.2687G>C (p.Cys896Ser) c.60G>C c.1949G>C (p.Cys650Ser) c.2699G>C (p.Cys900Ser) c.2705G>C (p.Cys902Ser)
8	g.115418427C>T	CA372064382	TRPS1	c.2726G>A (p.Cys909Tyr) c.2687G>A (p.Cys896Tyr) c.60G>A c.1949G>A (p.Cys650Tyr) c.2699G>A (p.Cys900Tyr) c.2705G>A (p.Cys902Tyr)	ClinVar dbSNP
8	g.115418428A>C	CA372064383	TRPS1	c.2725T>G (p.Cys909Gly) c.2686T>G (p.Cys896Gly) c.59T>G c.1948T>G (p.Cys650Gly) c.2698T>G (p.Cys900Gly) c.2704T>G (p.Cys902Gly)
8	g.115418428A>G	CA372064384	TRPS1	c.2725T>C (p.Cys909Arg) c.2686T>C (p.Cys896Arg) c.59T>C c.1948T>C (p.Cys650Arg) c.2698T>C (p.Cys900Arg) c.2704T>C (p.Cys902Arg)	ClinVar
8	g.115418428A>T	CA372064385	TRPS1	c.2725T>A (p.Cys909Ser) c.2686T>A (p.Cys896Ser) c.59T>A c.1948T>A (p.Cys650Ser) c.2698T>A (p.Cys900Ser) c.2704T>A (p.Cys902Ser)
8	g.115418433dup	CA16618583	TRPS1	c.2725dup (p.Cys909LeufsTer?) c.2686dup (p.Cys896LeufsTer?) c.59dup c.1948dup (p.Cys650LeufsTer?) c.2698dup (p.Cys900LeufsTer?) c.2704dup (p.Cys902LeufsTer?)	ClinVar dbSNP
8	g.115418433del	CA462631451	TRPS1	c.2725del (p.Cys909ValfsTer5) c.2686del (p.Cys896ValfsTer5) c.59del c.1948del (p.Cys650ValfsTer5) c.2698del (p.Cys900ValfsTer5) c.2704del (p.Cys902ValfsTer5)	ClinVar COSMIC COSMIC
8	g.115418429A>C	CA372064386	TRPS1	c.2724T>G (p.Phe908Leu) c.2685T>G (p.Phe895Leu) c.58T>G c.1947T>G (p.Phe649Leu) c.2697T>G (p.Phe899Leu) c.2703T>G (p.Phe901Leu)
8	g.115418429A>G	CA462631452	TRPS1	c.2724T>C (p.Phe908=) c.2685T>C (p.Phe895=) c.58T>C c.1947T>C (p.Phe649=) c.2697T>C (p.Phe899=) c.2703T>C (p.Phe901=)
8	g.115418429A>T	CA372064387	TRPS1	c.2724T>A (p.Phe908Leu) c.2685T>A (p.Phe895Leu) c.58T>A c.1947T>A (p.Phe649Leu) c.2697T>A (p.Phe899Leu) c.2703T>A (p.Phe901Leu)
8	g.115418430A>C	CA372064388	TRPS1	c.2723T>G (p.Phe908Cys) c.2684T>G (p.Phe895Cys) c.57T>G c.1946T>G (p.Phe649Cys) c.2696T>G (p.Phe899Cys) c.2702T>G (p.Phe901Cys)
8	g.115418430A>G	CA372064389	TRPS1	c.2723T>C (p.Phe908Ser) c.2684T>C (p.Phe895Ser) c.57T>C c.1946T>C (p.Phe649Ser) c.2696T>C (p.Phe899Ser) c.2702T>C (p.Phe901Ser)	gnomAD v4
8	g.115418430A>T	CA372064390	TRPS1	c.2723T>A (p.Phe908Tyr) c.2684T>A (p.Phe895Tyr) c.57T>A c.1946T>A (p.Phe649Tyr) c.2696T>A (p.Phe899Tyr) c.2702T>A (p.Phe901Tyr)
8	g.115418431A>C	CA372064393	TRPS1	c.2722T>G (p.Phe908Val) c.2683T>G (p.Phe895Val) c.56T>G c.1945T>G (p.Phe649Val) c.2695T>G (p.Phe899Val) c.2701T>G (p.Phe901Val)
8	g.115418431A>G	CA372064392	TRPS1	c.2722T>C (p.Phe908Leu) c.2683T>C (p.Phe895Leu) c.56T>C c.1945T>C (p.Phe649Leu) c.2695T>C (p.Phe899Leu) c.2701T>C (p.Phe901Leu)
8	g.115418431A>T	CA372064391	TRPS1	c.2722T>A (p.Phe908Ile) c.2683T>A (p.Phe895Ile) c.56T>A c.1945T>A (p.Phe649Ile) c.2695T>A (p.Phe899Ile) c.2701T>A (p.Phe901Ile)
8	g.115418432A=	CA1812857566	TRPS1	c.2721T= (p.Val907=) c.2682T= (p.Val894=) c.55T= c.1944T= (p.Val648=) c.2694T= (p.Val898=) c.2700T= (p.Val900=)
8	g.115418432A>C	CA462631455	TRPS1	c.2721T>G (p.Val907=) c.2682T>G (p.Val894=) c.55T>G c.1944T>G (p.Val648=) c.2694T>G (p.Val898=) c.2700T>G (p.Val900=)	dbSNP gnomAD v2 gnomAD v4
8	g.115418432A>G	CA462631453	TRPS1	c.2721T>C (p.Val907=) c.2682T>C (p.Val894=) c.55T>C c.1944T>C (p.Val648=) c.2694T>C (p.Val898=) c.2700T>C (p.Val900=)
8	g.115418432A>T	CA462631454	TRPS1	c.2721T>A (p.Val907=) c.2682T>A (p.Val894=) c.55T>A c.1944T>A (p.Val648=) c.2694T>A (p.Val898=) c.2700T>A (p.Val900=)	dbSNP gnomAD v3 gnomAD v4
8	g.115418433A>C	CA372064394	TRPS1	c.2720T>G (p.Val907Gly) c.2681T>G (p.Val894Gly) c.54T>G c.1943T>G (p.Val648Gly) c.2693T>G (p.Val898Gly) c.2699T>G (p.Val900Gly)
8	g.115418433A>G	CA372064396	TRPS1	c.2720T>C (p.Val907Ala) c.2681T>C (p.Val894Ala) c.54T>C c.1943T>C (p.Val648Ala) c.2693T>C (p.Val898Ala) c.2699T>C (p.Val900Ala)
8	g.115418433A>T	CA372064395	TRPS1	c.2720T>A (p.Val907Asp) c.2681T>A (p.Val894Asp) c.54T>A c.1943T>A (p.Val648Asp) c.2693T>A (p.Val898Asp) c.2699T>A (p.Val900Asp)
8	g.115418434del	CA2580617924	TRPS1	c.2719del (p.Val907PhefsTer7) c.2680del (p.Val894PhefsTer7) c.53del c.1942del (p.Val648PhefsTer7) c.2692del (p.Val898PhefsTer7) c.2698del (p.Val900PhefsTer7)	ClinVar
8	g.115418434C>A	CA372064397	TRPS1	c.2719G>T (p.Val907Phe) c.2680G>T (p.Val894Phe) c.53G>T c.1942G>T (p.Val648Phe) c.2692G>T (p.Val898Phe) c.2698G>T (p.Val900Phe)
8	g.115418434C=	CA1812857568	TRPS1	c.2719G= (p.Val907=) c.2680G= (p.Val894=) c.53G= c.1942G= (p.Val648=) c.2692G= (p.Val898=) c.2698G= (p.Val900=)
8	g.115418434C>G	CA372064398	TRPS1	c.2719G>C (p.Val907Leu) c.2680G>C (p.Val894Leu) c.53G>C c.1942G>C (p.Val648Leu) c.2692G>C (p.Val898Leu) c.2698G>C (p.Val900Leu)
8	g.115418434C>T	CA4851585	TRPS1	c.2719G>A (p.Val907Ile) c.2680G>A (p.Val894Ile) c.53G>A c.1942G>A (p.Val648Ile) c.2692G>A (p.Val898Ile) c.2698G>A (p.Val900Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418435A>C	CA462631456	TRPS1	c.2718T>G (p.Gly906=) c.2679T>G (p.Gly893=) c.52T>G c.1941T>G (p.Gly647=) c.2691T>G (p.Gly897=) c.2697T>G (p.Gly899=)
8	g.115418435A>G	CA462631457	TRPS1	c.2718T>C (p.Gly906=) c.2679T>C (p.Gly893=) c.52T>C c.1941T>C (p.Gly647=) c.2691T>C (p.Gly897=) c.2697T>C (p.Gly899=)
8	g.115418435A>T	CA462631458	TRPS1	c.2718T>A (p.Gly906=) c.2679T>A (p.Gly893=) c.52T>A c.1941T>A (p.Gly647=) c.2691T>A (p.Gly897=) c.2697T>A (p.Gly899=)	gnomAD v4
8	g.115418436C>A	CA372064399	TRPS1	c.2717G>T (p.Gly906Val) c.2678G>T (p.Gly893Val) c.51G>T c.1940G>T (p.Gly647Val) c.2690G>T (p.Gly897Val) c.2696G>T (p.Gly899Val)
8	g.115418436C>G	CA372064400	TRPS1	c.2717G>C (p.Gly906Ala) c.2678G>C (p.Gly893Ala) c.51G>C c.1940G>C (p.Gly647Ala) c.2690G>C (p.Gly897Ala) c.2696G>C (p.Gly899Ala)
8	g.115418436C>T	CA372064401	TRPS1	c.2717G>A (p.Gly906Asp) c.2678G>A (p.Gly893Asp) c.51G>A c.1940G>A (p.Gly647Asp) c.2690G>A (p.Gly897Asp) c.2696G>A (p.Gly899Asp)	dbSNP
8	g.115418437C>A	CA372064402	TRPS1	c.2716G>T (p.Gly906Cys) c.2677G>T (p.Gly893Cys) c.50G>T c.1939G>T (p.Gly647Cys) c.2689G>T (p.Gly897Cys) c.2695G>T (p.Gly899Cys)	gnomAD v4
8	g.115418437C=	CA1812857571	TRPS1	c.2716G= (p.Gly906=) c.2677G= (p.Gly893=) c.50G= c.1939G= (p.Gly647=) c.2689G= (p.Gly897=) c.2695G= (p.Gly899=)
8	g.115418437C>G	CA372064403	TRPS1	c.2716G>C (p.Gly906Arg) c.2677G>C (p.Gly893Arg) c.50G>C c.1939G>C (p.Gly647Arg) c.2689G>C (p.Gly897Arg) c.2695G>C (p.Gly899Arg)	gnomAD v4
8	g.115418437C>T	CA4851586	TRPS1	c.2716G>A (p.Gly906Ser) c.2677G>A (p.Gly893Ser) c.50G>A c.1939G>A (p.Gly647Ser) c.2689G>A (p.Gly897Ser) c.2695G>A (p.Gly899Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418438G>A	CA4851587	TRPS1	c.2715C>T (p.Ser905=) c.2676C>T (p.Ser892=) c.49C>T c.1938C>T (p.Ser646=) c.2688C>T (p.Ser896=) c.2694C>T (p.Ser898=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.115418438G>C	CA462631462	TRPS1	c.2715C>G (p.Ser905=) c.2676C>G (p.Ser892=) c.49C>G c.1938C>G (p.Ser646=) c.2688C>G (p.Ser896=) c.2694C>G (p.Ser898=)	COSMIC COSMIC
8	g.115418438G=	CA1812857576	TRPS1	c.2715C= (p.Ser905=) c.2676C= (p.Ser892=) c.49C= c.1938C= (p.Ser646=) c.2688C= (p.Ser896=) c.2694C= (p.Ser898=)
8	g.115418438G>T	CA462631461	TRPS1	c.2715C>A (p.Ser905=) c.2676C>A (p.Ser892=) c.49C>A c.1938C>A (p.Ser646=) c.2688C>A (p.Ser896=) c.2694C>A (p.Ser898=)
8	g.115418439G>A	CA184471410	TRPS1	c.2714C>T (p.Ser905Phe) c.2675C>T (p.Ser892Phe) c.48C>T c.1937C>T (p.Ser646Phe) c.2687C>T (p.Ser896Phe) c.2693C>T (p.Ser898Phe)	dbSNP gnomAD v4 COSMIC COSMIC
8	g.115418439G>C	CA372064404	TRPS1	c.2714C>G (p.Ser905Cys) c.2675C>G (p.Ser892Cys) c.48C>G c.1937C>G (p.Ser646Cys) c.2687C>G (p.Ser896Cys) c.2693C>G (p.Ser898Cys)	gnomAD v4
8	g.115418439G=	CA1812857581	TRPS1	c.2714C= (p.Ser905=) c.2675C= (p.Ser892=) c.48C= c.1937C= (p.Ser646=) c.2687C= (p.Ser896=) c.2693C= (p.Ser898=)
8	g.115418439G>T	CA372064405	TRPS1	c.2714C>A (p.Ser905Tyr) c.2675C>A (p.Ser892Tyr) c.48C>A c.1937C>A (p.Ser646Tyr) c.2687C>A (p.Ser896Tyr) c.2693C>A (p.Ser898Tyr)
8	g.115418440A>C	CA372064406	TRPS1	c.2713T>G (p.Ser905Ala) c.2674T>G (p.Ser892Ala) c.47T>G c.1936T>G (p.Ser646Ala) c.2686T>G (p.Ser896Ala) c.2692T>G (p.Ser898Ala)	gnomAD v4
8	g.115418440A>G	CA372064407	TRPS1	c.2713T>C (p.Ser905Pro) c.2674T>C (p.Ser892Pro) c.47T>C c.1936T>C (p.Ser646Pro) c.2686T>C (p.Ser896Pro) c.2692T>C (p.Ser898Pro)
8	g.115418440A>T	CA372064408	TRPS1	c.2713T>A (p.Ser905Thr) c.2674T>A (p.Ser892Thr) c.47T>A c.1936T>A (p.Ser646Thr) c.2686T>A (p.Ser896Thr) c.2692T>A (p.Ser898Thr)
8	g.115418441G>A	CA462631463	TRPS1	c.2712C>T (p.Gly904=) c.2673C>T (p.Gly891=) c.46C>T c.1935C>T (p.Gly645=) c.2685C>T (p.Gly895=) c.2691C>T (p.Gly897=)
8	g.115418441G>C	CA462631464	TRPS1	c.2712C>G (p.Gly904=) c.2673C>G (p.Gly891=) c.46C>G c.1935C>G (p.Gly645=) c.2685C>G (p.Gly895=) c.2691C>G (p.Gly897=)
8	g.115418441G>T	CA462631465	TRPS1	c.2712C>A (p.Gly904=) c.2673C>A (p.Gly891=) c.46C>A c.1935C>A (p.Gly645=) c.2685C>A (p.Gly895=) c.2691C>A (p.Gly897=)
8	g.115418447_115418454del	CA2688317758	TRPS1	c.2705_2712del c.2666_2673del c.39_46del c.1928_1935del c.2678_2685del c.2684_2691del	gnomAD v4
8	g.115418442C>A	CA372064409	TRPS1	c.2711G>T (p.Gly904Val) c.2672G>T (p.Gly891Val) c.45G>T c.1934G>T (p.Gly645Val) c.2684G>T (p.Gly895Val) c.2690G>T (p.Gly897Val)
8	g.115418442C=	CA1812857585	TRPS1	c.2711G= (p.Gly904=) c.2672G= (p.Gly891=) c.45G= c.1934G= (p.Gly645=) c.2684G= (p.Gly895=) c.2690G= (p.Gly897=)
8	g.115418442C>G	CA372064411	TRPS1	c.2711G>C (p.Gly904Ala) c.2672G>C (p.Gly891Ala) c.45G>C c.1934G>C (p.Gly645Ala) c.2684G>C (p.Gly895Ala) c.2690G>C (p.Gly897Ala)	dbSNP gnomAD v2 gnomAD v4
8	g.115418442C>T	CA372064410	TRPS1	c.2711G>A (p.Gly904Asp) c.2672G>A (p.Gly891Asp) c.45G>A c.1934G>A (p.Gly645Asp) c.2684G>A (p.Gly895Asp) c.2690G>A (p.Gly897Asp)	gnomAD v4
8	g.115418443C>A	CA372064412	TRPS1	c.2710G>T (p.Gly904Cys) c.2671G>T (p.Gly891Cys) c.44G>T c.1933G>T (p.Gly645Cys) c.2683G>T (p.Gly895Cys) c.2689G>T (p.Gly897Cys)
8	g.115418443C=	CA1812857588	TRPS1	c.2710G= (p.Gly904=) c.2671G= (p.Gly891=) c.44G= c.1933G= (p.Gly645=) c.2683G= (p.Gly895=) c.2689G= (p.Gly897=)
8	g.115418443C>G	CA372064413	TRPS1	c.2710G>C (p.Gly904Arg) c.2671G>C (p.Gly891Arg) c.44G>C c.1933G>C (p.Gly645Arg) c.2683G>C (p.Gly895Arg) c.2689G>C (p.Gly897Arg)
8	g.115418443C>T	CA4851588	TRPS1	c.2710G>A (p.Gly904Ser) c.2671G>A (p.Gly891Ser) c.44G>A c.1933G>A (p.Gly645Ser) c.2683G>A (p.Gly895Ser) c.2689G>A (p.Gly897Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
8	g.115418444T>A	CA372064414	TRPS1	c.2709A>T (p.Arg903Ser) c.2670A>T (p.Arg890Ser) c.43A>T c.1932A>T (p.Arg644Ser) c.2682A>T (p.Arg894Ser) c.2688A>T (p.Arg896Ser)
8	g.115418444T>C	CA462631466	TRPS1	c.2709A>G (p.Arg903=) c.2670A>G (p.Arg890=) c.43A>G c.1932A>G (p.Arg644=) c.2682A>G (p.Arg894=) c.2688A>G (p.Arg896=)
8	g.115418444T>G	CA372064415	TRPS1	c.2709A>C (p.Arg903Ser) c.2670A>C (p.Arg890Ser) c.43A>C c.1932A>C (p.Arg644Ser) c.2682A>C (p.Arg894Ser) c.2688A>C (p.Arg896Ser)
8	g.115418445C>A	CA372064416	TRPS1	c.2708G>T (p.Arg903Ile) c.2669G>T (p.Arg890Ile) c.42G>T c.1931G>T (p.Arg644Ile) c.2681G>T (p.Arg894Ile) c.2687G>T (p.Arg896Ile)
8	g.115418445C>G	CA372064417	TRPS1	c.2708G>C (p.Arg903Thr) c.2669G>C (p.Arg890Thr) c.42G>C c.1931G>C (p.Arg644Thr) c.2681G>C (p.Arg894Thr) c.2687G>C (p.Arg896Thr)
8	g.115418445C>T	CA372064418	TRPS1	c.2708G>A (p.Arg903Lys) c.2669G>A (p.Arg890Lys) c.42G>A c.1931G>A (p.Arg644Lys) c.2681G>A (p.Arg894Lys) c.2687G>A (p.Arg896Lys)
8	g.115418446T>A	CA372064419	TRPS1	c.2707A>T (p.Arg903Ter) c.2668A>T (p.Arg890Ter) c.41A>T c.1930A>T (p.Arg644Ter) c.2680A>T (p.Arg894Ter) c.2686A>T (p.Arg896Ter)
8	g.115418446T>C	CA372064420	TRPS1	c.2707A>G (p.Arg903Gly) c.2668A>G (p.Arg890Gly) c.41A>G c.1930A>G (p.Arg644Gly) c.2680A>G (p.Arg894Gly) c.2686A>G (p.Arg896Gly)
8	g.115418446T>G	CA462631467	TRPS1	c.2707A>C (p.Arg903=) c.2668A>C (p.Arg890=) c.41A>C c.1930A>C (p.Arg644=) c.2680A>C (p.Arg894=) c.2686A>C (p.Arg896=)
8	g.115418447A=	CA1812857590	TRPS1	c.2706T= (p.Arg902=) c.2667T= (p.Arg889=) c.40T= c.1929T= (p.Arg643=) c.2679T= (p.Arg893=) c.2685T= (p.Arg895=)
8	g.115418447A>C	CA462631469	TRPS1	c.2706T>G (p.Arg902=) c.2667T>G (p.Arg889=) c.40T>G c.1929T>G (p.Arg643=) c.2679T>G (p.Arg893=) c.2685T>G (p.Arg895=)
8	g.115418447A>G	CA4851589	TRPS1	c.2706T>C (p.Arg902=) c.2667T>C (p.Arg889=) c.40T>C c.1929T>C (p.Arg643=) c.2679T>C (p.Arg893=) c.2685T>C (p.Arg895=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8	g.115418447A>T	CA462631468	TRPS1	c.2706T>A (p.Arg902=) c.2667T>A (p.Arg889=) c.40T>A c.1929T>A (p.Arg643=) c.2679T>A (p.Arg893=) c.2685T>A (p.Arg895=)
8	g.115418447_115418448dup	CA2695210053	TRPS1	c.2705_2706dup (p.Arg903ValfsTer12) c.2666_2667dup (p.Arg890ValfsTer12) c.39_40dup c.1928_1929dup (p.Arg644ValfsTer12) c.2678_2679dup (p.Arg894ValfsTer12) c.2684_2685dup (p.Arg896ValfsTer12)
8	g.115418448C>A	CA372064422	TRPS1	c.2705G>T (p.Arg902Leu) c.2666G>T (p.Arg889Leu) c.39G>T c.1928G>T (p.Arg643Leu) c.2678G>T (p.Arg893Leu) c.2684G>T (p.Arg895Leu)	gnomAD v3 gnomAD v4
8	g.115418448C=	CA1812857594	TRPS1	c.2705G= (p.Arg902=) c.2666G= (p.Arg889=) c.39G= c.1928G= (p.Arg643=) c.2678G= (p.Arg893=) c.2684G= (p.Arg895=)
8	g.115418448C>G	CA372064421	TRPS1	c.2705G>C (p.Arg902Pro) c.2666G>C (p.Arg889Pro) c.39G>C c.1928G>C (p.Arg643Pro) c.2678G>C (p.Arg893Pro) c.2684G>C (p.Arg895Pro)
8	g.115418448C>T	CA184471431	TRPS1	c.2705G>A (p.Arg902His) c.2666G>A (p.Arg889His) c.39G>A c.1928G>A (p.Arg643His) c.2678G>A (p.Arg893His) c.2684G>A (p.Arg895His)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
8	g.115418449G>A	CA372064423	TRPS1	c.2704C>T (p.Arg902Cys) c.2665C>T (p.Arg889Cys) c.38C>T c.1927C>T (p.Arg643Cys) c.2677C>T (p.Arg893Cys) c.2683C>T (p.Arg895Cys)	COSMIC
8	g.115418449G>C	CA372064424	TRPS1	c.2704C>G (p.Arg902Gly) c.2665C>G (p.Arg889Gly) c.38C>G c.1927C>G (p.Arg643Gly) c.2677C>G (p.Arg893Gly) c.2683C>G (p.Arg895Gly)
8	g.115418449G>T	CA372064425	TRPS1	c.2704C>A (p.Arg902Ser) c.2665C>A (p.Arg889Ser) c.38C>A c.1927C>A (p.Arg643Ser) c.2677C>A (p.Arg893Ser) c.2683C>A (p.Arg895Ser)
8	g.115418450C>A	CA372064426	TRPS1	c.2703G>T (p.Arg901Ser) c.2664G>T (p.Arg888Ser) c.37G>T c.1926G>T (p.Arg642Ser) c.2676G>T (p.Arg892Ser) c.2682G>T (p.Arg894Ser)
8	g.115418450C>G	CA372064427	TRPS1	c.2703G>C (p.Arg901Ser) c.2664G>C (p.Arg888Ser) c.37G>C c.1926G>C (p.Arg642Ser) c.2676G>C (p.Arg892Ser) c.2682G>C (p.Arg894Ser)
8	g.115418450C>T	CA462631470	TRPS1	c.2703G>A (p.Arg901=) c.2664G>A (p.Arg888=) c.37G>A c.1926G>A (p.Arg642=) c.2676G>A (p.Arg892=) c.2682G>A (p.Arg894=)	gnomAD v4 COSMIC COSMIC
8	g.115418451C>A	CA372064428	TRPS1	c.2702G>T (p.Arg901Met) c.2663G>T (p.Arg888Met) c.36G>T c.1925G>T (p.Arg642Met) c.2675G>T (p.Arg892Met) c.2681G>T (p.Arg894Met)
8	g.115418451C>G	CA372064429	TRPS1	c.2702G>C (p.Arg901Thr) c.2663G>C (p.Arg888Thr) c.36G>C c.1925G>C (p.Arg642Thr) c.2675G>C (p.Arg892Thr) c.2681G>C (p.Arg894Thr)
8	g.115418451C>T	CA372064430	TRPS1	c.2702G>A (p.Arg901Lys) c.2663G>A (p.Arg888Lys) c.36G>A c.1925G>A (p.Arg642Lys) c.2675G>A (p.Arg892Lys) c.2681G>A (p.Arg894Lys)
8	g.115418452T>A	CA372064431	TRPS1	c.2701A>T (p.Arg901Trp) c.2662A>T (p.Arg888Trp) c.35A>T c.1924A>T (p.Arg642Trp) c.2674A>T (p.Arg892Trp) c.2680A>T (p.Arg894Trp)
8	g.115418452T>C	CA372064432	TRPS1	c.2701A>G (p.Arg901Gly) c.2662A>G (p.Arg888Gly) c.35A>G c.1924A>G (p.Arg642Gly) c.2674A>G (p.Arg892Gly) c.2680A>G (p.Arg894Gly)	COSMIC COSMIC
8	g.115418452T>G	CA462631471	TRPS1	c.2701A>C (p.Arg901=) c.2662A>C (p.Arg888=) c.35A>C c.1924A>C (p.Arg642=) c.2674A>C (p.Arg892=) c.2680A>C (p.Arg894=)
8	g.115418453C>A	CA372064435	TRPS1	c.2701-1G>T (n.2701-1G>T) c.2662-1G>T (n.2662-1G>T) c.35-1G>T c.1924-1G>T (n.1924-1G>T) c.2674-1G>T (n.2674-1G>T) c.2680-1G>T (n.2680-1G>T)
8	g.115418453C>G	CA372064434	TRPS1	c.2701-1G>C (n.2701-1G>C) c.2662-1G>C (n.2662-1G>C) c.35-1G>C c.1924-1G>C (n.1924-1G>C) c.2674-1G>C (n.2674-1G>C) c.2680-1G>C (n.2680-1G>C)
8	g.115418453C>T	CA372064433	TRPS1	c.2701-1G>A (n.2701-1G>A) c.2662-1G>A (n.2662-1G>A) c.35-1G>A c.1924-1G>A (n.1924-1G>A) c.2674-1G>A (n.2674-1G>A) c.2680-1G>A (n.2680-1G>A)	ClinVar
8	g.115418454T>A	CA372064436	TRPS1	c.2701-2A>T (n.2701-2A>T) c.2662-2A>T (n.2662-2A>T) c.35-2A>T c.1924-2A>T (n.1924-2A>T) c.2674-2A>T (n.2674-2A>T) c.2680-2A>T (n.2680-2A>T)
8	g.115418454T>C	CA372064437	TRPS1	c.2701-2A>G (n.2701-2A>G) c.2662-2A>G (n.2662-2A>G) c.35-2A>G c.1924-2A>G (n.1924-2A>G) c.2674-2A>G (n.2674-2A>G) c.2680-2A>G (n.2680-2A>G)
8	g.115418454T>G	CA372064438	TRPS1	c.2701-2A>C (n.2701-2A>C) c.2662-2A>C (n.2662-2A>C) c.35-2A>C c.1924-2A>C (n.1924-2A>C) c.2674-2A>C (n.2674-2A>C) c.2680-2A>C (n.2680-2A>C)
8	g.115418458A>G	CA2688317759	TRPS1	c.2701-6T>C (n.2701-6T>C) c.2662-6T>C (n.2662-6T>C) c.35-6T>C c.1924-6T>C (n.1924-6T>C) c.2674-6T>C (n.2674-6T>C) c.2680-6T>C (n.2680-6T>C)	gnomAD v4
8	g.115418459del	CA2579233412	TRPS1	c.2701-7del (n.2701-7del) c.2662-7del (n.2662-7del) c.35-7del c.1924-7del (n.1924-7del) c.2674-7del (n.2674-7del) c.2680-7del (n.2680-7del)
8	g.115418459C>G	CA2579233413	TRPS1	c.2701-7G>C (n.2701-7G>C) c.2662-7G>C (n.2662-7G>C) c.35-7G>C c.1924-7G>C (n.1924-7G>C) c.2674-7G>C (n.2674-7G>C) c.2680-7G>C (n.2680-7G>C)
8	g.115418459C>T	CA2504559429	TRPS1	c.2701-7G>A (n.2701-7G>A) c.2662-7G>A (n.2662-7G>A) c.35-7G>A c.1924-7G>A (n.1924-7G>A) c.2674-7G>A (n.2674-7G>A) c.2680-7G>A (n.2680-7G>A)
8	g.115418459_115418461delinsCAG	CA1812857596	TRPS1	c.2701-9_2701-7delinsCTG (n.2701-9_2701-7delinsCTG) c.2662-9_2662-7delinsCTG (n.2662-9_2662-7delinsCTG) c.35-9_35-7delinsCTG c.1924-9_1924-7delinsCTG (n.1924-9_1924-7delinsCTG) c.2674-9_2674-7delinsCTG (n.2674-9_2674-7delinsCTG) c.2680-9_2680-7delinsCTG (n.2680-9_2680-7delinsCTG)

Number of alleles fetched