Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115418413T>ACA372064349TRPS1c.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)
8g.115418413T>CCA372064350TRPS1c.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)
8g.115418413T>GCA117610TRPS1c.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
8g.115418413T=CA1812857540TRPS1c.2740A= (p.Thr914=)
c.2701A= (p.Thr901=)
c.74A=
c.1963A= (p.Thr655=)
c.2713A= (p.Thr905=)
c.2719A= (p.Thr907=)
8g.115418414C>ACA462631441TRPS1c.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=)
8g.115418414C>GCA462631442TRPS1c.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=)
8g.115418414C>TCA462631443TRPS1c.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=)
8g.115418415A>CCA372064351TRPS1c.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)
8g.115418415A>GCA372064352TRPS1c.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)
8g.115418415A>TCA372064353TRPS1c.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
8g.115418415dupCA2740095131TRPS1c.2738dup (p.Thr914AspfsTer?)
c.2699dup (p.Thr901AspfsTer?)
c.72dup
c.1961dup (p.Thr655AspfsTer?)
c.2711dup (p.Thr905AspfsTer?)
c.2717dup (p.Thr907AspfsTer?)
 ClinVar
8g.115418416G>ACA462631444TRPS1c.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=)
8g.115418416G>CCA372064354TRPS1c.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)
8g.115418416G>TCA372064355TRPS1c.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)
8g.115418417G>ACA462631445TRPS1c.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
8g.115418417G>CCA372064356TRPS1c.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)
8g.115418417G=CA1812857545TRPS1c.2736C= (p.Cys912=)
c.2697C= (p.Cys899=)
c.70C=
c.1959C= (p.Cys653=)
c.2709C= (p.Cys903=)
c.2715C= (p.Cys905=)
8g.115418417G>TCA372064357TRPS1c.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)
8g.115418418C>ACA372064358TRPS1c.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
8g.115418418C>GCA372064359TRPS1c.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)
8g.115418418C>TCA372064360TRPS1c.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
8g.115418419A>CCA372064363TRPS1c.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)
8g.115418419A>GCA372064362TRPS1c.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)
8g.115418419A>TCA372064361TRPS1c.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)
8g.115418420A>CCA372064364TRPS1c.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)
8g.115418420A>GCA462631446TRPS1c.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=)
8g.115418420A>TCA372064365TRPS1c.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)
8g.115418421T>ACA372064366TRPS1c.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)
8g.115418421T>CCA372064367TRPS1c.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
8g.115418421T>GCA372064368TRPS1c.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)
8g.115418421T=CA1812857549TRPS1c.2732A= (p.Asn911=)
c.2693A= (p.Asn898=)
c.66A=
c.1955A= (p.Asn652=)
c.2705A= (p.Asn902=)
c.2711A= (p.Asn904=)
8g.115418422T>ACA372064369TRPS1c.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
8g.115418422T>CCA372064370TRPS1c.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)
8g.115418422T>GCA372064371TRPS1c.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)
8g.115418422T=CA1812857555TRPS1c.2731A= (p.Asn911=)
c.2692A= (p.Asn898=)
c.65A=
c.1954A= (p.Asn652=)
c.2704A= (p.Asn902=)
c.2710A= (p.Asn904=)
8g.115418423G>ACA462631447TRPS1c.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=)
8g.115418423G>CCA462631448TRPS1c.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=)
8g.115418423G>TCA462631449TRPS1c.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
8g.115418424G>ACA372064372TRPS1c.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
8g.115418424G>CCA372064373TRPS1c.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
8g.115418424G>TCA372064374TRPS1c.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)
8g.115418425C>ACA372064375TRPS1c.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)
8g.115418425C>GCA372064376TRPS1c.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)
8g.115418425C>TCA372064377TRPS1c.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)
8g.115418426A>CCA372064378TRPS1c.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)
8g.115418426A>GCA462631450TRPS1c.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=)
8g.115418426A>TCA372064379TRPS1c.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)
8g.115418427C>ACA372064380TRPS1c.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)
8g.115418427C=CA1812857560TRPS1c.2726G= (p.Cys909=)
c.2687G= (p.Cys896=)
c.60G=
c.1949G= (p.Cys650=)
c.2699G= (p.Cys900=)
c.2705G= (p.Cys902=)
8g.115418427C>GCA372064381TRPS1c.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)
8g.115418427C>TCA372064382TRPS1c.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
8g.115418428A>CCA372064383TRPS1c.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)
8g.115418428A>GCA372064384TRPS1c.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
8g.115418428A>TCA372064385TRPS1c.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)
8g.115418433dupCA16618583TRPS1c.2725dup (p.Cys909LeufsTer?)
c.2686dup (p.Cys896LeufsTer?)
c.59dup
c.1948dup (p.Cys650LeufsTer?)
c.2698dup (p.Cys900LeufsTer?)
c.2704dup (p.Cys902LeufsTer?)
 ClinVar dbSNP
8g.115418433delCA462631451TRPS1c.2725del (p.Cys909ValfsTer5)
c.2686del (p.Cys896ValfsTer5)
c.59del
c.1948del (p.Cys650ValfsTer5)
c.2698del (p.Cys900ValfsTer5)
c.2704del (p.Cys902ValfsTer5)
 ClinVar COSMIC COSMIC
8g.115418429A>CCA372064386TRPS1c.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)
8g.115418429A>GCA462631452TRPS1c.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=)
8g.115418429A>TCA372064387TRPS1c.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)
8g.115418430A>CCA372064388TRPS1c.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)
8g.115418430A>GCA372064389TRPS1c.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
8g.115418430A>TCA372064390TRPS1c.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)
8g.115418431A>CCA372064393TRPS1c.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)
8g.115418431A>GCA372064392TRPS1c.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)
8g.115418431A>TCA372064391TRPS1c.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)
8g.115418432A=CA1812857566TRPS1c.2721T= (p.Val907=)
c.2682T= (p.Val894=)
c.55T=
c.1944T= (p.Val648=)
c.2694T= (p.Val898=)
c.2700T= (p.Val900=)
8g.115418432A>CCA462631455TRPS1c.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
8g.115418432A>GCA462631453TRPS1c.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=)
8g.115418432A>TCA462631454TRPS1c.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
8g.115418433A>CCA372064394TRPS1c.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)
8g.115418433A>GCA372064396TRPS1c.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)
8g.115418433A>TCA372064395TRPS1c.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)
8g.115418434delCA2580617924TRPS1c.2719del (p.Val907PhefsTer7)
c.2680del (p.Val894PhefsTer7)
c.53del
c.1942del (p.Val648PhefsTer7)
c.2692del (p.Val898PhefsTer7)
c.2698del (p.Val900PhefsTer7)
 ClinVar
8g.115418434C>ACA372064397TRPS1c.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)
8g.115418434C=CA1812857568TRPS1c.2719G= (p.Val907=)
c.2680G= (p.Val894=)
c.53G=
c.1942G= (p.Val648=)
c.2692G= (p.Val898=)
c.2698G= (p.Val900=)
8g.115418434C>GCA372064398TRPS1c.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)
8g.115418434C>TCA4851585TRPS1c.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
8g.115418435A>CCA462631456TRPS1c.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=)
8g.115418435A>GCA462631457TRPS1c.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=)
8g.115418435A>TCA462631458TRPS1c.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
8g.115418436C>ACA372064399TRPS1c.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)
8g.115418436C>GCA372064400TRPS1c.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)
8g.115418436C>TCA372064401TRPS1c.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
8g.115418437C>ACA372064402TRPS1c.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
8g.115418437C=CA1812857571TRPS1c.2716G= (p.Gly906=)
c.2677G= (p.Gly893=)
c.50G=
c.1939G= (p.Gly647=)
c.2689G= (p.Gly897=)
c.2695G= (p.Gly899=)
8g.115418437C>GCA372064403TRPS1c.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
8g.115418437C>TCA4851586TRPS1c.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
8g.115418438G>ACA4851587TRPS1c.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
8g.115418438G>CCA462631462TRPS1c.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
8g.115418438G=CA1812857576TRPS1c.2715C= (p.Ser905=)
c.2676C= (p.Ser892=)
c.49C=
c.1938C= (p.Ser646=)
c.2688C= (p.Ser896=)
c.2694C= (p.Ser898=)
8g.115418438G>TCA462631461TRPS1c.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=)
8g.115418439G>ACA184471410TRPS1c.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
8g.115418439G>CCA372064404TRPS1c.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
8g.115418439G=CA1812857581TRPS1c.2714C= (p.Ser905=)
c.2675C= (p.Ser892=)
c.48C=
c.1937C= (p.Ser646=)
c.2687C= (p.Ser896=)
c.2693C= (p.Ser898=)
8g.115418439G>TCA372064405TRPS1c.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)
8g.115418440A>CCA372064406TRPS1c.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
8g.115418440A>GCA372064407TRPS1c.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)
8g.115418440A>TCA372064408TRPS1c.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)
8g.115418441G>ACA462631463TRPS1c.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=)
8g.115418441G>CCA462631464TRPS1c.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=)
8g.115418441G>TCA462631465TRPS1c.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=)
8g.115418447_115418454delCA2688317758TRPS1c.2705_2712del
c.2666_2673del
c.39_46del
c.1928_1935del
c.2678_2685del
c.2684_2691del
 gnomAD v4
8g.115418442C>ACA372064409TRPS1c.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)
8g.115418442C=CA1812857585TRPS1c.2711G= (p.Gly904=)
c.2672G= (p.Gly891=)
c.45G=
c.1934G= (p.Gly645=)
c.2684G= (p.Gly895=)
c.2690G= (p.Gly897=)
8g.115418442C>GCA372064411TRPS1c.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
8g.115418442C>TCA372064410TRPS1c.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
8g.115418443C>ACA372064412TRPS1c.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)
8g.115418443C=CA1812857588TRPS1c.2710G= (p.Gly904=)
c.2671G= (p.Gly891=)
c.44G=
c.1933G= (p.Gly645=)
c.2683G= (p.Gly895=)
c.2689G= (p.Gly897=)
8g.115418443C>GCA372064413TRPS1c.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)
8g.115418443C>TCA4851588TRPS1c.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
8g.115418444T>ACA372064414TRPS1c.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)
8g.115418444T>CCA462631466TRPS1c.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=)
8g.115418444T>GCA372064415TRPS1c.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)
8g.115418445C>ACA372064416TRPS1c.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)
8g.115418445C>GCA372064417TRPS1c.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)
8g.115418445C>TCA372064418TRPS1c.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)
8g.115418446T>ACA372064419TRPS1c.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)
8g.115418446T>CCA372064420TRPS1c.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)
8g.115418446T>GCA462631467TRPS1c.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=)
8g.115418447A=CA1812857590TRPS1c.2706T= (p.Arg902=)
c.2667T= (p.Arg889=)
c.40T=
c.1929T= (p.Arg643=)
c.2679T= (p.Arg893=)
c.2685T= (p.Arg895=)
8g.115418447A>CCA462631469TRPS1c.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=)
8g.115418447A>GCA4851589TRPS1c.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
8g.115418447A>TCA462631468TRPS1c.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=)
8g.115418447_115418448dupCA2695210053TRPS1c.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)
8g.115418448C>ACA372064422TRPS1c.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
8g.115418448C=CA1812857594TRPS1c.2705G= (p.Arg902=)
c.2666G= (p.Arg889=)
c.39G=
c.1928G= (p.Arg643=)
c.2678G= (p.Arg893=)
c.2684G= (p.Arg895=)
8g.115418448C>GCA372064421TRPS1c.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)
8g.115418448C>TCA184471431TRPS1c.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
8g.115418449G>ACA372064423TRPS1c.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
8g.115418449G>CCA372064424TRPS1c.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)
8g.115418449G>TCA372064425TRPS1c.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)
8g.115418450C>ACA372064426TRPS1c.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)
8g.115418450C>GCA372064427TRPS1c.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)
8g.115418450C>TCA462631470TRPS1c.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
8g.115418451C>ACA372064428TRPS1c.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)
8g.115418451C>GCA372064429TRPS1c.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)
8g.115418451C>TCA372064430TRPS1c.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)
8g.115418452T>ACA372064431TRPS1c.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)
8g.115418452T>CCA372064432TRPS1c.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
8g.115418452T>GCA462631471TRPS1c.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=)
8g.115418453C>ACA372064435TRPS1c.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)
8g.115418453C>GCA372064434TRPS1c.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)
8g.115418453C>TCA372064433TRPS1c.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
8g.115418454T>ACA372064436TRPS1c.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)
8g.115418454T>CCA372064437TRPS1c.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)
8g.115418454T>GCA372064438TRPS1c.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)
8g.115418458A>GCA2688317759TRPS1c.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
8g.115418459delCA2579233412TRPS1c.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)
8g.115418459C>GCA2579233413TRPS1c.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)
8g.115418459C>TCA2504559429TRPS1c.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)
8g.115418459_115418461delinsCAGCA1812857596TRPS1c.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)
8g.115418460A=CA1812857598TRPS1c.2701-8T= (n.2701-8T=)
c.2662-8T= (n.2662-8T=)
c.35-8T=
c.1924-8T= (n.1924-8T=)
c.2674-8T= (n.2674-8T=)
c.2680-8T= (n.2680-8T=)
8g.115418460A>CCA2688317760TRPS1c.2701-8T>G (n.2701-8T>G)
c.2662-8T>G (n.2662-8T>G)
c.35-8T>G
c.1924-8T>G (n.1924-8T>G)
c.2674-8T>G (n.2674-8T>G)
c.2680-8T>G (n.2680-8T>G)
 gnomAD v4
8g.115418460A>GCA4851591TRPS1c.2701-8T>C (n.2701-8T>C)
c.2662-8T>C (n.2662-8T>C)
c.35-8T>C
c.1924-8T>C (n.1924-8T>C)
c.2674-8T>C (n.2674-8T>C)
c.2680-8T>C (n.2680-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418460A>TCA2579233414TRPS1c.2701-8T>A (n.2701-8T>A)
c.2662-8T>A (n.2662-8T>A)
c.35-8T>A
c.1924-8T>A (n.1924-8T>A)
c.2674-8T>A (n.2674-8T>A)
c.2680-8T>A (n.2680-8T>A)
8g.115418460_115418461delCA4851590TRPS1c.2701-9_2701-8del (n.2701-9_2701-8del)
c.2662-9_2662-8del (n.2662-9_2662-8del)
c.35-9_35-8del
c.1924-9_1924-8del (n.1924-9_1924-8del)
c.2674-9_2674-8del (n.2674-9_2674-8del)
c.2680-9_2680-8del (n.2680-9_2680-8del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418461G>ACA4851592TRPS1c.2701-9C>T (n.2701-9C>T)
c.2662-9C>T (n.2662-9C>T)
c.35-9C>T
c.1924-9C>T (n.1924-9C>T)
c.2674-9C>T (n.2674-9C>T)
c.2680-9C>T (n.2680-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418461G=CA1812857599TRPS1c.2701-9C= (n.2701-9C=)
c.2662-9C= (n.2662-9C=)
c.35-9C=
c.1924-9C= (n.1924-9C=)
c.2674-9C= (n.2674-9C=)
c.2680-9C= (n.2680-9C=)
8g.115418463_115418464delCA372064439TRPS1c.2701-10_2701-9del (n.2701-10_2701-9del)
c.2662-10_2662-9del (n.2662-10_2662-9del)
c.35-10_35-9del
c.1924-10_1924-9del (n.1924-10_1924-9del)
c.2674-10_2674-9del (n.2674-10_2674-9del)
c.2680-10_2680-9del (n.2680-10_2680-9del)
8g.115418463G>ACA846017450TRPS1c.2701-11C>T (n.2701-11C>T)
c.2662-11C>T (n.2662-11C>T)
c.35-11C>T
c.1924-11C>T (n.1924-11C>T)
c.2674-11C>T (n.2674-11C>T)
c.2680-11C>T (n.2680-11C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.115418463G>CCA1812857601TRPS1c.2701-11C>G (n.2701-11C>G)
c.2662-11C>G (n.2662-11C>G)
c.35-11C>G
c.1924-11C>G (n.1924-11C>G)
c.2674-11C>G (n.2674-11C>G)
c.2680-11C>G (n.2680-11C>G)
 dbSNP
8g.115418463G=CA1812857600TRPS1c.2701-11C= (n.2701-11C=)
c.2662-11C= (n.2662-11C=)
c.35-11C=
c.1924-11C= (n.1924-11C=)
c.2674-11C= (n.2674-11C=)
c.2680-11C= (n.2680-11C=)
8g.115418463_115418464insAAGAACA2571484701TRPS1c.2701-12_2701-11insTTCTT (n.2701-12_2701-11insTTCTT)
c.2662-12_2662-11insTTCTT (n.2662-12_2662-11insTTCTT)
c.35-12_35-11insTTCTT
c.1924-12_1924-11insTTCTT (n.1924-12_1924-11insTTCTT)
c.2674-12_2674-11insTTCTT (n.2674-12_2674-11insTTCTT)
c.2680-12_2680-11insTTCTT (n.2680-12_2680-11insTTCTT)
8g.115418464G>ACA1812857604TRPS1c.2701-12C>T (n.2701-12C>T)
c.2662-12C>T (n.2662-12C>T)
c.35-12C>T
c.1924-12C>T (n.1924-12C>T)
c.2674-12C>T (n.2674-12C>T)
c.2680-12C>T (n.2680-12C>T)
 dbSNP gnomAD v4
8g.115418464G=CA1812857603TRPS1c.2701-12C= (n.2701-12C=)
c.2662-12C= (n.2662-12C=)
c.35-12C=
c.1924-12C= (n.1924-12C=)
c.2674-12C= (n.2674-12C=)
c.2680-12C= (n.2680-12C=)
8g.115418464_115418465delinsGACA1812857602TRPS1c.2701-13_2701-12delinsTC (n.2701-13_2701-12delinsTC)
c.2662-13_2662-12delinsTC (n.2662-13_2662-12delinsTC)
c.35-13_35-12delinsTC
c.1924-13_1924-12delinsTC (n.1924-13_1924-12delinsTC)
c.2674-13_2674-12delinsTC (n.2674-13_2674-12delinsTC)
c.2680-13_2680-12delinsTC (n.2680-13_2680-12delinsTC)
8g.115418465A=CA1812857608TRPS1c.2701-13T= (n.2701-13T=)
c.2662-13T= (n.2662-13T=)
c.35-13T=
c.1924-13T= (n.1924-13T=)
c.2674-13T= (n.2674-13T=)
c.2680-13T= (n.2680-13T=)
8g.115418465A>GCA4851595TRPS1c.2701-13T>C (n.2701-13T>C)
c.2662-13T>C (n.2662-13T>C)
c.35-13T>C
c.1924-13T>C (n.1924-13T>C)
c.2674-13T>C (n.2674-13T>C)
c.2680-13T>C (n.2680-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418465A>TCA2565828971TRPS1c.2701-13T>A (n.2701-13T>A)
c.2662-13T>A (n.2662-13T>A)
c.35-13T>A
c.1924-13T>A (n.1924-13T>A)
c.2674-13T>A (n.2674-13T>A)
c.2680-13T>A (n.2680-13T>A)
 gnomAD v4
8g.115418471dupCA4851594TRPS1c.2701-13dup (n.2701-13dup)
c.2662-13dup (n.2662-13dup)
c.35-13dup
c.1924-13dup (n.1924-13dup)
c.2674-13dup (n.2674-13dup)
c.2680-13dup (n.2680-13dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418471delCA4851593TRPS1c.2701-13del (n.2701-13del)
c.2662-13del (n.2662-13del)
c.35-13del
c.1924-13del (n.1924-13del)
c.2674-13del (n.2674-13del)
c.2680-13del (n.2680-13del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.115418466A>TCA2688317761TRPS1c.2701-14T>A (n.2701-14T>A)
c.2662-14T>A (n.2662-14T>A)
c.35-14T>A
c.1924-14T>A (n.1924-14T>A)
c.2674-14T>A (n.2674-14T>A)
c.2680-14T>A (n.2680-14T>A)
 gnomAD v4
8g.115418467A=CA1812857610TRPS1c.2701-15T= (n.2701-15T=)
c.2662-15T= (n.2662-15T=)
c.35-15T=
c.1924-15T= (n.1924-15T=)
c.2674-15T= (n.2674-15T=)
c.2680-15T= (n.2680-15T=)
8g.115418467A>GCA4851596TRPS1c.2701-15T>C (n.2701-15T>C)
c.2662-15T>C (n.2662-15T>C)
c.35-15T>C
c.1924-15T>C (n.1924-15T>C)
c.2674-15T>C (n.2674-15T>C)
c.2680-15T>C (n.2680-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418468A=CA1812857613TRPS1c.2701-16T= (n.2701-16T=)
c.2662-16T= (n.2662-16T=)
c.35-16T=
c.1924-16T= (n.1924-16T=)
c.2674-16T= (n.2674-16T=)
c.2680-16T= (n.2680-16T=)
8g.115418468A>GCA184471458TRPS1c.2701-16T>C (n.2701-16T>C)
c.2662-16T>C (n.2662-16T>C)
c.35-16T>C
c.1924-16T>C (n.1924-16T>C)
c.2674-16T>C (n.2674-16T>C)
c.2680-16T>C (n.2680-16T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115418469A=CA1812857616TRPS1c.2701-17T= (n.2701-17T=)
c.2662-17T= (n.2662-17T=)
c.35-17T=
c.1924-17T= (n.1924-17T=)
c.2674-17T= (n.2674-17T=)
c.2680-17T= (n.2680-17T=)
8g.115418469A>TCA184471461TRPS1c.2701-17T>A (n.2701-17T>A)
c.2662-17T>A (n.2662-17T>A)
c.35-17T>A
c.1924-17T>A (n.1924-17T>A)
c.2674-17T>A (n.2674-17T>A)
c.2680-17T>A (n.2680-17T>A)
 dbSNP gnomAD v4
8g.115418470A=CA1812857618TRPS1c.2701-18T= (n.2701-18T=)
c.2662-18T= (n.2662-18T=)
c.35-18T=
c.1924-18T= (n.1924-18T=)
c.2674-18T= (n.2674-18T=)
c.2680-18T= (n.2680-18T=)
8g.115418470A>TCA4851597TRPS1c.2701-18T>A (n.2701-18T>A)
c.2662-18T>A (n.2662-18T>A)
c.35-18T>A
c.1924-18T>A (n.1924-18T>A)
c.2674-18T>A (n.2674-18T>A)
c.2680-18T>A (n.2680-18T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418471A=CA1812857620TRPS1c.2701-19T= (n.2701-19T=)
c.2662-19T= (n.2662-19T=)
c.35-19T=
c.1924-19T= (n.1924-19T=)
c.2674-19T= (n.2674-19T=)
c.2680-19T= (n.2680-19T=)
8g.115418471A>CCA2688317762TRPS1c.2701-19T>G (n.2701-19T>G)
c.2662-19T>G (n.2662-19T>G)
c.35-19T>G
c.1924-19T>G (n.1924-19T>G)
c.2674-19T>G (n.2674-19T>G)
c.2680-19T>G (n.2680-19T>G)
 gnomAD v4
8g.115418471A>GCA2718138449TRPS1c.2701-19T>C (n.2701-19T>C)
c.2662-19T>C (n.2662-19T>C)
c.35-19T>C
c.1924-19T>C (n.1924-19T>C)
c.2674-19T>C (n.2674-19T>C)
c.2680-19T>C (n.2680-19T>C)
 dbSNP
8g.115418471A>TCA1118167057TRPS1c.2701-19T>A (n.2701-19T>A)
c.2662-19T>A (n.2662-19T>A)
c.35-19T>A
c.1924-19T>A (n.1924-19T>A)
c.2674-19T>A (n.2674-19T>A)
c.2680-19T>A (n.2680-19T>A)
 dbSNP gnomAD v3 gnomAD v4
8g.115418472C>ACA184471465TRPS1c.2701-20G>T (n.2701-20G>T)
c.2662-20G>T (n.2662-20G>T)
c.35-20G>T
c.1924-20G>T (n.1924-20G>T)
c.2674-20G>T (n.2674-20G>T)
c.2680-20G>T (n.2680-20G>T)
 ClinVar dbSNP gnomAD v4
8g.115418472C=CA1812857621TRPS1c.2701-20G= (n.2701-20G=)
c.2662-20G= (n.2662-20G=)
c.35-20G=
c.1924-20G= (n.1924-20G=)
c.2674-20G= (n.2674-20G=)
c.2680-20G= (n.2680-20G=)
8g.115418472_115418473insACA2579233415TRPS1c.2701-21_2701-20insT (n.2701-21_2701-20insT)
c.2662-21_2662-20insT (n.2662-21_2662-20insT)
c.35-21_35-20insT
c.1924-21_1924-20insT (n.1924-21_1924-20insT)
c.2674-21_2674-20insT (n.2674-21_2674-20insT)
c.2680-21_2680-20insT (n.2680-21_2680-20insT)
8g.115418473C>ACA1812857625TRPS1c.2701-21G>T (n.2701-21G>T)
c.2662-21G>T (n.2662-21G>T)
c.35-21G>T
c.1924-21G>T (n.1924-21G>T)
c.2674-21G>T (n.2674-21G>T)
c.2680-21G>T (n.2680-21G>T)
 dbSNP
8g.115418473C=CA1812857627TRPS1c.2701-21G= (n.2701-21G=)
c.2662-21G= (n.2662-21G=)
c.35-21G=
c.1924-21G= (n.1924-21G=)
c.2674-21G= (n.2674-21G=)
c.2680-21G= (n.2680-21G=)
8g.115418473C>TCA846017491TRPS1c.2701-21G>A (n.2701-21G>A)
c.2662-21G>A (n.2662-21G>A)
c.35-21G>A
c.1924-21G>A (n.1924-21G>A)
c.2674-21G>A (n.2674-21G>A)
c.2680-21G>A (n.2680-21G>A)
 dbSNP gnomAD v3 gnomAD v4
8g.115418474A=CA1812857629TRPS1c.2701-22T= (n.2701-22T=)
c.2662-22T= (n.2662-22T=)
c.35-22T=
c.1924-22T= (n.1924-22T=)
c.2674-22T= (n.2674-22T=)
c.2680-22T= (n.2680-22T=)
8g.115418474A>GCA846017498TRPS1c.2701-22T>C (n.2701-22T>C)
c.2662-22T>C (n.2662-22T>C)
c.35-22T>C
c.1924-22T>C (n.1924-22T>C)
c.2674-22T>C (n.2674-22T>C)
c.2680-22T>C (n.2680-22T>C)
 dbSNP
8g.115418474_115418475insCAGAAAAAAAAACCA2561557387TRPS1c.2701-23_2701-22insGTTTTTTTTTCTG (n.2701-23_2701-22insGTTTTTTTTTCTG)
c.2662-23_2662-22insGTTTTTTTTTCTG (n.2662-23_2662-22insGTTTTTTTTTCTG)
c.35-23_35-22insGTTTTTTTTTCTG
c.1924-23_1924-22insGTTTTTTTTTCTG (n.1924-23_1924-22insGTTTTTTTTTCTG)
c.2674-23_2674-22insGTTTTTTTTTCTG (n.2674-23_2674-22insGTTTTTTTTTCTG)
c.2680-23_2680-22insGTTTTTTTTTCTG (n.2680-23_2680-22insGTTTTTTTTTCTG)
8g.115418475A>TCA2579233416TRPS1c.2701-23T>A (n.2701-23T>A)
c.2662-23T>A (n.2662-23T>A)
c.35-23T>A
c.1924-23T>A (n.1924-23T>A)
c.2674-23T>A (n.2674-23T>A)
c.2680-23T>A (n.2680-23T>A)
8g.115418475_115418476delinsAGCA1812857631TRPS1c.2701-24_2701-23delinsCT (n.2701-24_2701-23delinsCT)
c.2662-24_2662-23delinsCT (n.2662-24_2662-23delinsCT)
c.35-24_35-23delinsCT
c.1924-24_1924-23delinsCT (n.1924-24_1924-23delinsCT)
c.2674-24_2674-23delinsCT (n.2674-24_2674-23delinsCT)
c.2680-24_2680-23delinsCT (n.2680-24_2680-23delinsCT)
8g.115418477delCA584659064TRPS1c.2701-24del (n.2701-24del)
c.2662-24del (n.2662-24del)
c.35-24del
c.1924-24del (n.1924-24del)
c.2674-24del (n.2674-24del)
c.2680-24del (n.2680-24del)
 dbSNP gnomAD v2 gnomAD v4
8g.115418477G>ACA2579233417TRPS1c.2701-25C>T (n.2701-25C>T)
c.2662-25C>T (n.2662-25C>T)
c.35-25C>T
c.1924-25C>T (n.1924-25C>T)
c.2674-25C>T (n.2674-25C>T)
c.2680-25C>T (n.2680-25C>T)
8g.115418480A>GCA2688317763TRPS1c.2701-28T>C (n.2701-28T>C)
c.2662-28T>C (n.2662-28T>C)
c.35-28T>C
c.1924-28T>C (n.1924-28T>C)
c.2674-28T>C (n.2674-28T>C)
c.2680-28T>C (n.2680-28T>C)
 gnomAD v4
8g.115418481G>CCA2688317764TRPS1c.2701-29C>G (n.2701-29C>G)
c.2662-29C>G (n.2662-29C>G)
c.35-29C>G
c.1924-29C>G (n.1924-29C>G)
c.2674-29C>G (n.2674-29C>G)
c.2680-29C>G (n.2680-29C>G)
 gnomAD v4
8g.115418482A=CA1812857633TRPS1c.2701-30T= (n.2701-30T=)
c.2662-30T= (n.2662-30T=)
c.35-30T=
c.1924-30T= (n.1924-30T=)
c.2674-30T= (n.2674-30T=)
c.2680-30T= (n.2680-30T=)
8g.115418482A>GCA1118167060TRPS1c.2701-30T>C (n.2701-30T>C)
c.2662-30T>C (n.2662-30T>C)
c.35-30T>C
c.1924-30T>C (n.1924-30T>C)
c.2674-30T>C (n.2674-30T>C)
c.2680-30T>C (n.2680-30T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.115418483G>ACA584659069TRPS1c.2701-31C>T (n.2701-31C>T)
c.2662-31C>T (n.2662-31C>T)
c.35-31C>T
c.1924-31C>T (n.1924-31C>T)
c.2674-31C>T (n.2674-31C>T)
c.2680-31C>T (n.2680-31C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115418483G>CCA846017502TRPS1c.2701-31C>G (n.2701-31C>G)
c.2662-31C>G (n.2662-31C>G)
c.35-31C>G
c.1924-31C>G (n.1924-31C>G)
c.2674-31C>G (n.2674-31C>G)
c.2680-31C>G (n.2680-31C>G)
 dbSNP gnomAD v3 gnomAD v4
8g.115418483G=CA1812857636TRPS1c.2701-31C= (n.2701-31C=)
c.2662-31C= (n.2662-31C=)
c.35-31C=
c.1924-31C= (n.1924-31C=)
c.2674-31C= (n.2674-31C=)
c.2680-31C= (n.2680-31C=)
8g.115418484G>ACA1812857640TRPS1c.2701-32C>T (n.2701-32C>T)
c.2662-32C>T (n.2662-32C>T)
c.35-32C>T
c.1924-32C>T (n.1924-32C>T)
c.2674-32C>T (n.2674-32C>T)
c.2680-32C>T (n.2680-32C>T)
 dbSNP
8g.115418484G=CA1812857638TRPS1c.2701-32C= (n.2701-32C=)
c.2662-32C= (n.2662-32C=)
c.35-32C=
c.1924-32C= (n.1924-32C=)
c.2674-32C= (n.2674-32C=)
c.2680-32C= (n.2680-32C=)
8g.115418486G>ACA584659071TRPS1c.2701-34C>T (n.2701-34C>T)
c.2662-34C>T (n.2662-34C>T)
c.35-34C>T
c.1924-34C>T (n.1924-34C>T)
c.2674-34C>T (n.2674-34C>T)
c.2680-34C>T (n.2680-34C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.115418486G=CA1812857642TRPS1c.2701-34C= (n.2701-34C=)
c.2662-34C= (n.2662-34C=)
c.35-34C=
c.1924-34C= (n.1924-34C=)
c.2674-34C= (n.2674-34C=)
c.2680-34C= (n.2680-34C=)
8g.115418488G>CCA2688317765TRPS1c.2701-36C>G (n.2701-36C>G)
c.2662-36C>G (n.2662-36C>G)
c.35-36C>G
c.1924-36C>G (n.1924-36C>G)
c.2674-36C>G (n.2674-36C>G)
c.2680-36C>G (n.2680-36C>G)
 gnomAD v4
8g.115418488_115418496delinsGTCACATGACA1812857644TRPS1c.2701-44_2701-36delinsTCATGTGAC (n.2701-44_2701-36delinsTCATGTGAC)
c.2662-44_2662-36delinsTCATGTGAC (n.2662-44_2662-36delinsTCATGTGAC)
c.35-44_35-36delinsTCATGTGAC
c.1924-44_1924-36delinsTCATGTGAC (n.1924-44_1924-36delinsTCATGTGAC)
c.2674-44_2674-36delinsTCATGTGAC (n.2674-44_2674-36delinsTCATGTGAC)
c.2680-44_2680-36delinsTCATGTGAC (n.2680-44_2680-36delinsTCATGTGAC)
8g.115418489T>CCA2688317766TRPS1c.2701-37A>G (n.2701-37A>G)
c.2662-37A>G (n.2662-37A>G)
c.35-37A>G
c.1924-37A>G (n.1924-37A>G)
c.2674-37A>G (n.2674-37A>G)
c.2680-37A>G (n.2680-37A>G)
 gnomAD v4
8g.115418492_115418499delCA1118167062TRPS1c.2701-44_2701-37del (n.2701-44_2701-37del)
c.2662-44_2662-37del (n.2662-44_2662-37del)
c.35-44_35-37del
c.1924-44_1924-37del (n.1924-44_1924-37del)
c.2674-44_2674-37del (n.2674-44_2674-37del)
c.2680-44_2680-37del (n.2680-44_2680-37del)
 dbSNP gnomAD v3 gnomAD v4
8g.115418490C>ACA2688317767TRPS1c.2701-38G>T (n.2701-38G>T)
c.2662-38G>T (n.2662-38G>T)
c.35-38G>T
c.1924-38G>T (n.1924-38G>T)
c.2674-38G>T (n.2674-38G>T)
c.2680-38G>T (n.2680-38G>T)
 gnomAD v4
8g.115418491A>GCA2688317768TRPS1c.2701-39T>C (n.2701-39T>C)
c.2662-39T>C (n.2662-39T>C)
c.35-39T>C
c.1924-39T>C (n.1924-39T>C)
c.2674-39T>C (n.2674-39T>C)
c.2680-39T>C (n.2680-39T>C)
 gnomAD v4
8g.115418492delCA2688317770TRPS1c.2701-40del (n.2701-40del)
c.2662-40del (n.2662-40del)
c.35-40del
c.1924-40del (n.1924-40del)
c.2674-40del (n.2674-40del)
c.2680-40del (n.2680-40del)
 gnomAD v4
8g.115418492C>TCA2688317769TRPS1c.2701-40G>A (n.2701-40G>A)
c.2662-40G>A (n.2662-40G>A)
c.35-40G>A
c.1924-40G>A (n.1924-40G>A)
c.2674-40G>A (n.2674-40G>A)
c.2680-40G>A (n.2680-40G>A)
 gnomAD v4
8g.115418493A>GCA2688317771TRPS1c.2701-41T>C (n.2701-41T>C)
c.2662-41T>C (n.2662-41T>C)
c.35-41T>C
c.1924-41T>C (n.1924-41T>C)
c.2674-41T>C (n.2674-41T>C)
c.2680-41T>C (n.2680-41T>C)
 gnomAD v4
8g.115418494T>ACA584659073TRPS1c.2701-42A>T (n.2701-42A>T)
c.2662-42A>T (n.2662-42A>T)
c.35-42A>T
c.1924-42A>T (n.1924-42A>T)
c.2674-42A>T (n.2674-42A>T)
c.2680-42A>T (n.2680-42A>T)
 dbSNP gnomAD v2
8g.115418494T>GCA4851598TRPS1c.2701-42A>C (n.2701-42A>C)
c.2662-42A>C (n.2662-42A>C)
c.35-42A>C
c.1924-42A>C (n.1924-42A>C)
c.2674-42A>C (n.2674-42A>C)
c.2680-42A>C (n.2680-42A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115418494T=CA1812857649TRPS1c.2701-42A= (n.2701-42A=)
c.2662-42A= (n.2662-42A=)
c.35-42A=
c.1924-42A= (n.1924-42A=)
c.2674-42A= (n.2674-42A=)
c.2680-42A= (n.2680-42A=)
8g.115418495G>CCA2579233418TRPS1c.2701-43C>G (n.2701-43C>G)
c.2662-43C>G (n.2662-43C>G)
c.35-43C>G
c.1924-43C>G (n.1924-43C>G)
c.2674-43C>G (n.2674-43C>G)
c.2680-43C>G (n.2680-43C>G)
8g.115418496A>GCA2514093161TRPS1c.2701-44T>C (n.2701-44T>C)
c.2662-44T>C (n.2662-44T>C)
c.35-44T>C
c.1924-44T>C (n.1924-44T>C)
c.2674-44T>C (n.2674-44T>C)
c.2680-44T>C (n.2680-44T>C)
 gnomAD v4
8g.115418498C>ACA2547076170TRPS1c.2701-46G>T (n.2701-46G>T)
c.2662-46G>T (n.2662-46G>T)
c.35-46G>T
c.1924-46G>T (n.1924-46G>T)
c.2674-46G>T (n.2674-46G>T)
c.2680-46G>T (n.2680-46G>T)
8g.115418499A>TCA2521293343TRPS1c.2701-47T>A (n.2701-47T>A)
c.2662-47T>A (n.2662-47T>A)
c.35-47T>A
c.1924-47T>A (n.1924-47T>A)
c.2674-47T>A (n.2674-47T>A)
c.2680-47T>A (n.2680-47T>A)
8g.115418501T>CCA2503809005TRPS1c.2701-49A>G (n.2701-49A>G)
c.2662-49A>G (n.2662-49A>G)
c.35-49A>G
c.1924-49A>G (n.1924-49A>G)
c.2674-49A>G (n.2674-49A>G)
c.2680-49A>G (n.2680-49A>G)
8g.115418502G>ACA2688317772TRPS1c.2701-50C>T (n.2701-50C>T)
c.2662-50C>T (n.2662-50C>T)
c.35-50C>T
c.1924-50C>T (n.1924-50C>T)
c.2674-50C>T (n.2674-50C>T)
c.2680-50C>T (n.2680-50C>T)
 gnomAD v4
8g.115418503G>ACA4851599TRPS1c.2701-51C>T (n.2701-51C>T)
c.2662-51C>T (n.2662-51C>T)
c.35-51C>T
c.1924-51C>T (n.1924-51C>T)
c.2674-51C>T (n.2674-51C>T)
c.2680-51C>T (n.2680-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115418503G=CA1812857652TRPS1c.2701-51C= (n.2701-51C=)
c.2662-51C= (n.2662-51C=)
c.35-51C=
c.1924-51C= (n.1924-51C=)
c.2674-51C= (n.2674-51C=)
c.2680-51C= (n.2680-51C=)
8g.115418505G>ACA1118167064TRPS1c.2701-53C>T (n.2701-53C>T)
c.2662-53C>T (n.2662-53C>T)
c.35-53C>T
c.1924-53C>T (n.1924-53C>T)
c.2674-53C>T (n.2674-53C>T)
c.2680-53C>T (n.2680-53C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.115418505G>CCA2688317773TRPS1c.2701-53C>G (n.2701-53C>G)
c.2662-53C>G (n.2662-53C>G)
c.35-53C>G
c.1924-53C>G (n.1924-53C>G)
c.2674-53C>G (n.2674-53C>G)
c.2680-53C>G (n.2680-53C>G)
 gnomAD v4
8g.115418505G=CA1812857655TRPS1c.2701-53C= (n.2701-53C=)
c.2662-53C= (n.2662-53C=)
c.35-53C=
c.1924-53C= (n.1924-53C=)
c.2674-53C= (n.2674-53C=)
c.2680-53C= (n.2680-53C=)
8g.115418507T>CCA184471469TRPS1c.2701-55A>G (n.2701-55A>G)
c.2662-55A>G (n.2662-55A>G)
c.35-55A>G
c.1924-55A>G (n.1924-55A>G)
c.2674-55A>G (n.2674-55A>G)
c.2680-55A>G (n.2680-55A>G)
 dbSNP gnomAD v3 gnomAD v4
8g.115418507T=CA1812857659TRPS1c.2701-55A= (n.2701-55A=)
c.2662-55A= (n.2662-55A=)
c.35-55A=
c.1924-55A= (n.1924-55A=)
c.2674-55A= (n.2674-55A=)
c.2680-55A= (n.2680-55A=)
8g.115418508_115418589delCA584659075TRPS1c.2701-136_2701-55del (n.2701-136_2701-55del)
c.2662-136_2662-55del (n.2662-136_2662-55del)
c.35-136_35-55del
c.1924-136_1924-55del (n.1924-136_1924-55del)
c.2674-136_2674-55del (n.2674-136_2674-55del)
c.2680-136_2680-55del (n.2680-136_2680-55del)
 gnomAD v2 gnomAD v3 gnomAD v4
8g.115418508A=CA1812857664TRPS1c.2701-56T= (n.2701-56T=)
c.2662-56T= (n.2662-56T=)
c.35-56T=
c.1924-56T= (n.1924-56T=)
c.2674-56T= (n.2674-56T=)
c.2680-56T= (n.2680-56T=)
8g.115418508A>CCA2579233419TRPS1c.2701-56T>G (n.2701-56T>G)
c.2662-56T>G (n.2662-56T>G)
c.35-56T>G
c.1924-56T>G (n.1924-56T>G)
c.2674-56T>G (n.2674-56T>G)
c.2680-56T>G (n.2680-56T>G)
 gnomAD v4
8g.115418508A>GCA184471476TRPS1c.2701-56T>C (n.2701-56T>C)
c.2662-56T>C (n.2662-56T>C)
c.35-56T>C
c.1924-56T>C (n.1924-56T>C)
c.2674-56T>C (n.2674-56T>C)
c.2680-56T>C (n.2680-56T>C)
 dbSNP gnomAD v4
8g.115418508A>TCA584659076TRPS1c.2701-56T>A (n.2701-56T>A)
c.2662-56T>A (n.2662-56T>A)
c.35-56T>A
c.1924-56T>A (n.1924-56T>A)
c.2674-56T>A (n.2674-56T>A)
c.2680-56T>A (n.2680-56T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115418508dupCA1118167068TRPS1c.2701-56dup (n.2701-56dup)
c.2662-56dup (n.2662-56dup)
c.35-56dup
c.1924-56dup (n.1924-56dup)
c.2674-56dup (n.2674-56dup)
c.2680-56dup (n.2680-56dup)
 dbSNP gnomAD v3 gnomAD v4
8g.115418510A>CCA2688317774TRPS1c.2701-58T>G (n.2701-58T>G)
c.2662-58T>G (n.2662-58T>G)
c.35-58T>G
c.1924-58T>G (n.1924-58T>G)
c.2674-58T>G (n.2674-58T>G)
c.2680-58T>G (n.2680-58T>G)
 gnomAD v4
8g.115418510A>GCA2517094504TRPS1c.2701-58T>C (n.2701-58T>C)
c.2662-58T>C (n.2662-58T>C)
c.35-58T>C
c.1924-58T>C (n.1924-58T>C)
c.2674-58T>C (n.2674-58T>C)
c.2680-58T>C (n.2680-58T>C)
 gnomAD v4
8g.115418511C>ACA2554995574TRPS1c.2701-59G>T (n.2701-59G>T)
c.2662-59G>T (n.2662-59G>T)
c.35-59G>T
c.1924-59G>T (n.1924-59G>T)
c.2674-59G>T (n.2674-59G>T)
c.2680-59G>T (n.2680-59G>T)
 gnomAD v4
8g.115418511C>TCA2688317775TRPS1c.2701-59G>A (n.2701-59G>A)
c.2662-59G>A (n.2662-59G>A)
c.35-59G>A
c.1924-59G>A (n.1924-59G>A)
c.2674-59G>A (n.2674-59G>A)
c.2680-59G>A (n.2680-59G>A)
 gnomAD v4
8g.115418512C>ACA2688317776TRPS1c.2701-60G>T (n.2701-60G>T)
c.2662-60G>T (n.2662-60G>T)
c.35-60G>T
c.1924-60G>T (n.1924-60G>T)
c.2674-60G>T (n.2674-60G>T)
c.2680-60G>T (n.2680-60G>T)
 gnomAD v4
8g.115418512C>TCA2688317777TRPS1c.2701-60G>A (n.2701-60G>A)
c.2662-60G>A (n.2662-60G>A)
c.35-60G>A
c.1924-60G>A (n.1924-60G>A)
c.2674-60G>A (n.2674-60G>A)
c.2680-60G>A (n.2680-60G>A)
 gnomAD v4
8g.115418512_115418537delinsCAAATCAACCCAGGAGTTTTGTCTTTCA1812857666TRPS1c.2701-85_2701-60delinsAAAGACAAAACTCCTGGGTTGATTTG (n.2701-85_2701-60delinsAAAGACAAAACTCCTGGGTTGATTTG)
c.2662-85_2662-60delinsAAAGACAAAACTCCTGGGTTGATTTG (n.2662-85_2662-60delinsAAAGACAAAACTCCTGGGTTGATTTG)
c.35-85_35-60delinsAAAGACAAAACTCCTGGGTTGATTTG
c.1924-85_1924-60delinsAAAGACAAAACTCCTGGGTTGATTTG (n.1924-85_1924-60delinsAAAGACAAAACTCCTGGGTTGATTTG)
c.2674-85_2674-60delinsAAAGACAAAACTCCTGGGTTGATTTG (n.2674-85_2674-60delinsAAAGACAAAACTCCTGGGTTGATTTG)
c.2680-85_2680-60delinsAAAGACAAAACTCCTGGGTTGATTTG (n.2680-85_2680-60delinsAAAGACAAAACTCCTGGGTTGATTTG)
8g.115418516_115418540delCA1118167072TRPS1c.2701-85_2701-61del (n.2701-85_2701-61del)
c.2662-85_2662-61del (n.2662-85_2662-61del)
c.35-85_35-61del
c.1924-85_1924-61del (n.1924-85_1924-61del)
c.2674-85_2674-61del (n.2674-85_2674-61del)
c.2680-85_2680-61del (n.2680-85_2680-61del)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched