Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115414089_115416214delCA2573332827TRPS1c.2824-1128_3821del
c.2785-1128_3782del
c.2047-1128_3044del
c.2797-1128_3794del
c.2803-1128_3800del
8g.115414499T>ACA372062815TRPS1c.3409A>T (p.Asn1137Tyr)
c.3370A>T (p.Asn1124Tyr)
c.743A>T
c.2632A>T (p.Asn878Tyr)
c.3382A>T (p.Asn1128Tyr)
c.3388A>T (p.Asn1130Tyr)
8g.115414499T>CCA372062814TRPS1c.3409A>G (p.Asn1137Asp)
c.3370A>G (p.Asn1124Asp)
c.743A>G
c.2632A>G (p.Asn878Asp)
c.3382A>G (p.Asn1128Asp)
c.3388A>G (p.Asn1130Asp)
8g.115414499T>GCA372062813TRPS1c.3409A>C (p.Asn1137His)
c.3370A>C (p.Asn1124His)
c.743A>C
c.2632A>C (p.Asn878His)
c.3382A>C (p.Asn1128His)
c.3388A>C (p.Asn1130His)
8g.115414500C>ACA462658198TRPS1c.3408G>T (p.Gly1136=)
c.3369G>T (p.Gly1123=)
c.742G>T
c.2631G>T (p.Gly877=)
c.3381G>T (p.Gly1127=)
c.3387G>T (p.Gly1129=)
8g.115414500C>GCA462658197TRPS1c.3408G>C (p.Gly1136=)
c.3369G>C (p.Gly1123=)
c.742G>C
c.2631G>C (p.Gly877=)
c.3381G>C (p.Gly1127=)
c.3387G>C (p.Gly1129=)
8g.115414500C>TCA462658196TRPS1c.3408G>A (p.Gly1136=)
c.3369G>A (p.Gly1123=)
c.742G>A
c.2631G>A (p.Gly877=)
c.3381G>A (p.Gly1127=)
c.3387G>A (p.Gly1129=)
8g.115414501C>ACA372062816TRPS1c.3407G>T (p.Gly1136Val)
c.3368G>T (p.Gly1123Val)
c.741G>T
c.2630G>T (p.Gly877Val)
c.3380G>T (p.Gly1127Val)
c.3386G>T (p.Gly1129Val)
8g.115414501C>GCA372062817TRPS1c.3407G>C (p.Gly1136Ala)
c.3368G>C (p.Gly1123Ala)
c.741G>C
c.2630G>C (p.Gly877Ala)
c.3380G>C (p.Gly1127Ala)
c.3386G>C (p.Gly1129Ala)
8g.115414501C>TCA372062818TRPS1c.3407G>A (p.Gly1136Glu)
c.3368G>A (p.Gly1123Glu)
c.741G>A
c.2630G>A (p.Gly877Glu)
c.3380G>A (p.Gly1127Glu)
c.3386G>A (p.Gly1129Glu)
 dbSNP
8g.115414502C>ACA372062819TRPS1c.3406G>T (p.Gly1136Trp)
c.3367G>T (p.Gly1123Trp)
c.740G>T
c.2629G>T (p.Gly877Trp)
c.3379G>T (p.Gly1127Trp)
c.3385G>T (p.Gly1129Trp)
8g.115414502C=CA1812853924TRPS1c.3406G= (p.Gly1136=)
c.3367G= (p.Gly1123=)
c.740G=
c.2629G= (p.Gly877=)
c.3379G= (p.Gly1127=)
c.3385G= (p.Gly1129=)
8g.115414502C>GCA372062820TRPS1c.3406G>C (p.Gly1136Arg)
c.3367G>C (p.Gly1123Arg)
c.740G>C
c.2629G>C (p.Gly877Arg)
c.3379G>C (p.Gly1127Arg)
c.3385G>C (p.Gly1129Arg)
8g.115414502C>TCA372062821TRPS1c.3406G>A (p.Gly1136Arg)
c.3367G>A (p.Gly1123Arg)
c.740G>A
c.2629G>A (p.Gly877Arg)
c.3379G>A (p.Gly1127Arg)
c.3385G>A (p.Gly1129Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.115414503A>CCA462658202TRPS1c.3405T>G (p.Pro1135=)
c.3366T>G (p.Pro1122=)
c.739T>G
c.2628T>G (p.Pro876=)
c.3378T>G (p.Pro1126=)
c.3384T>G (p.Pro1128=)
8g.115414503A>GCA462658204TRPS1c.3405T>C (p.Pro1135=)
c.3366T>C (p.Pro1122=)
c.739T>C
c.2628T>C (p.Pro876=)
c.3378T>C (p.Pro1126=)
c.3384T>C (p.Pro1128=)
8g.115414503A>TCA462658203TRPS1c.3405T>A (p.Pro1135=)
c.3366T>A (p.Pro1122=)
c.739T>A
c.2628T>A (p.Pro876=)
c.3378T>A (p.Pro1126=)
c.3384T>A (p.Pro1128=)
8g.115414504G>ACA372062822TRPS1c.3404C>T (p.Pro1135Leu)
c.3365C>T (p.Pro1122Leu)
c.738C>T
c.2627C>T (p.Pro876Leu)
c.3377C>T (p.Pro1126Leu)
c.3383C>T (p.Pro1128Leu)
8g.115414504G>CCA372062823TRPS1c.3404C>G (p.Pro1135Arg)
c.3365C>G (p.Pro1122Arg)
c.738C>G
c.2627C>G (p.Pro876Arg)
c.3377C>G (p.Pro1126Arg)
c.3383C>G (p.Pro1128Arg)
8g.115414504G>TCA372062824TRPS1c.3404C>A (p.Pro1135His)
c.3365C>A (p.Pro1122His)
c.738C>A
c.2627C>A (p.Pro876His)
c.3377C>A (p.Pro1126His)
c.3383C>A (p.Pro1128His)
8g.115414505G>ACA372062825TRPS1c.3403C>T (p.Pro1135Ser)
c.3364C>T (p.Pro1122Ser)
c.737C>T
c.2626C>T (p.Pro876Ser)
c.3376C>T (p.Pro1126Ser)
c.3382C>T (p.Pro1128Ser)
8g.115414505G>CCA372062826TRPS1c.3403C>G (p.Pro1135Ala)
c.3364C>G (p.Pro1122Ala)
c.737C>G
c.2626C>G (p.Pro876Ala)
c.3376C>G (p.Pro1126Ala)
c.3382C>G (p.Pro1128Ala)
 gnomAD v4
8g.115414505G>TCA372062827TRPS1c.3403C>A (p.Pro1135Thr)
c.3364C>A (p.Pro1122Thr)
c.737C>A
c.2626C>A (p.Pro876Thr)
c.3376C>A (p.Pro1126Thr)
c.3382C>A (p.Pro1128Thr)
8g.115414506A=CA1812853926TRPS1c.3402T= (p.Val1134=)
c.3363T= (p.Val1121=)
c.736T=
c.2625T= (p.Val875=)
c.3375T= (p.Val1125=)
c.3381T= (p.Val1127=)
8g.115414506A>CCA462658207TRPS1c.3402T>G (p.Val1134=)
c.3363T>G (p.Val1121=)
c.736T>G
c.2625T>G (p.Val875=)
c.3375T>G (p.Val1125=)
c.3381T>G (p.Val1127=)
8g.115414506A>GCA462658209TRPS1c.3402T>C (p.Val1134=)
c.3363T>C (p.Val1121=)
c.736T>C
c.2625T>C (p.Val875=)
c.3375T>C (p.Val1125=)
c.3381T>C (p.Val1127=)
8g.115414506A>TCA462658210TRPS1c.3402T>A (p.Val1134=)
c.3363T>A (p.Val1121=)
c.736T>A
c.2625T>A (p.Val875=)
c.3375T>A (p.Val1125=)
c.3381T>A (p.Val1127=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115414507A>CCA372062830TRPS1c.3401T>G (p.Val1134Gly)
c.3362T>G (p.Val1121Gly)
c.735T>G
c.2624T>G (p.Val875Gly)
c.3374T>G (p.Val1125Gly)
c.3380T>G (p.Val1127Gly)
8g.115414507A>GCA372062829TRPS1c.3401T>C (p.Val1134Ala)
c.3362T>C (p.Val1121Ala)
c.735T>C
c.2624T>C (p.Val875Ala)
c.3374T>C (p.Val1125Ala)
c.3380T>C (p.Val1127Ala)
 ClinVar
8g.115414507A>TCA372062828TRPS1c.3401T>A (p.Val1134Asp)
c.3362T>A (p.Val1121Asp)
c.735T>A
c.2624T>A (p.Val875Asp)
c.3374T>A (p.Val1125Asp)
c.3380T>A (p.Val1127Asp)
8g.115414508C>ACA4851491TRPS1c.3400G>T (p.Val1134Phe)
c.3361G>T (p.Val1121Phe)
c.734G>T
c.2623G>T (p.Val875Phe)
c.3373G>T (p.Val1125Phe)
c.3379G>T (p.Val1127Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414508C=CA1812853928TRPS1c.3400G= (p.Val1134=)
c.3361G= (p.Val1121=)
c.734G=
c.2623G= (p.Val875=)
c.3373G= (p.Val1125=)
c.3379G= (p.Val1127=)
8g.115414508C>GCA372062831TRPS1c.3400G>C (p.Val1134Leu)
c.3361G>C (p.Val1121Leu)
c.734G>C
c.2623G>C (p.Val875Leu)
c.3373G>C (p.Val1125Leu)
c.3379G>C (p.Val1127Leu)
8g.115414508C>TCA4851490TRPS1c.3400G>A (p.Val1134Ile)
c.3361G>A (p.Val1121Ile)
c.734G>A
c.2623G>A (p.Val875Ile)
c.3373G>A (p.Val1125Ile)
c.3379G>A (p.Val1127Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414508_115414509insCTCCCA2580078544TRPS1c.3400_3401insGAGG (p.Val1134GlyfsTer?)
c.3361_3362insGAGG (p.Val1121GlyfsTer?)
c.734_735insGAGG
c.2623_2624insGAGG (p.Val875GlyfsTer?)
c.3373_3374insGAGG (p.Val1125GlyfsTer?)
c.3379_3380insGAGG (p.Val1127GlyfsTer?)
 ClinVar dbSNP
8g.115414509G>ACA4851492TRPS1c.3399C>T (p.Ser1133=)
c.3360C>T (p.Ser1120=)
c.733C>T
c.2622C>T (p.Ser874=)
c.3372C>T (p.Ser1124=)
c.3378C>T (p.Ser1126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414509G>CCA462658211TRPS1c.3399C>G (p.Ser1133=)
c.3360C>G (p.Ser1120=)
c.733C>G
c.2622C>G (p.Ser874=)
c.3372C>G (p.Ser1124=)
c.3378C>G (p.Ser1126=)
 COSMIC COSMIC
8g.115414509G=CA1812853934TRPS1c.3399C= (p.Ser1133=)
c.3360C= (p.Ser1120=)
c.733C=
c.2622C= (p.Ser874=)
c.3372C= (p.Ser1124=)
c.3378C= (p.Ser1126=)
8g.115414509G>TCA462658212TRPS1c.3399C>A (p.Ser1133=)
c.3360C>A (p.Ser1120=)
c.733C>A
c.2622C>A (p.Ser874=)
c.3372C>A (p.Ser1124=)
c.3378C>A (p.Ser1126=)
8g.115414510G>ACA372062832TRPS1c.3398C>T (p.Ser1133Phe)
c.3359C>T (p.Ser1120Phe)
c.732C>T
c.2621C>T (p.Ser874Phe)
c.3371C>T (p.Ser1124Phe)
c.3377C>T (p.Ser1126Phe)
8g.115414510G>CCA372062833TRPS1c.3398C>G (p.Ser1133Cys)
c.3359C>G (p.Ser1120Cys)
c.732C>G
c.2621C>G (p.Ser874Cys)
c.3371C>G (p.Ser1124Cys)
c.3377C>G (p.Ser1126Cys)
 COSMIC COSMIC
8g.115414510G>TCA372062834TRPS1c.3398C>A (p.Ser1133Tyr)
c.3359C>A (p.Ser1120Tyr)
c.732C>A
c.2621C>A (p.Ser874Tyr)
c.3371C>A (p.Ser1124Tyr)
c.3377C>A (p.Ser1126Tyr)
8g.115414511A>CCA372062835TRPS1c.3397T>G (p.Ser1133Ala)
c.3358T>G (p.Ser1120Ala)
c.731T>G
c.2620T>G (p.Ser874Ala)
c.3370T>G (p.Ser1124Ala)
c.3376T>G (p.Ser1126Ala)
8g.115414511A>GCA372062836TRPS1c.3397T>C (p.Ser1133Pro)
c.3358T>C (p.Ser1120Pro)
c.731T>C
c.2620T>C (p.Ser874Pro)
c.3370T>C (p.Ser1124Pro)
c.3376T>C (p.Ser1126Pro)
8g.115414511A>TCA372062837TRPS1c.3397T>A (p.Ser1133Thr)
c.3358T>A (p.Ser1120Thr)
c.731T>A
c.2620T>A (p.Ser874Thr)
c.3370T>A (p.Ser1124Thr)
c.3376T>A (p.Ser1126Thr)
8g.115414512G>ACA462658213TRPS1c.3396C>T (p.Leu1132=)
c.3357C>T (p.Leu1119=)
c.730C>T
c.2619C>T (p.Leu873=)
c.3369C>T (p.Leu1123=)
c.3375C>T (p.Leu1125=)
8g.115414512G>CCA462658214TRPS1c.3396C>G (p.Leu1132=)
c.3357C>G (p.Leu1119=)
c.730C>G
c.2619C>G (p.Leu873=)
c.3369C>G (p.Leu1123=)
c.3375C>G (p.Leu1125=)
8g.115414512G>TCA462658215TRPS1c.3396C>A (p.Leu1132=)
c.3357C>A (p.Leu1119=)
c.730C>A
c.2619C>A (p.Leu873=)
c.3369C>A (p.Leu1123=)
c.3375C>A (p.Leu1125=)
8g.115414513A=CA1812853939TRPS1c.3395T= (p.Leu1132=)
c.3356T= (p.Leu1119=)
c.729T=
c.2618T= (p.Leu873=)
c.3368T= (p.Leu1123=)
c.3374T= (p.Leu1125=)
8g.115414513A>CCA184469567TRPS1c.3395T>G (p.Leu1132Arg)
c.3356T>G (p.Leu1119Arg)
c.729T>G
c.2618T>G (p.Leu873Arg)
c.3368T>G (p.Leu1123Arg)
c.3374T>G (p.Leu1125Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115414513A>GCA372062838TRPS1c.3395T>C (p.Leu1132Pro)
c.3356T>C (p.Leu1119Pro)
c.729T>C
c.2618T>C (p.Leu873Pro)
c.3368T>C (p.Leu1123Pro)
c.3374T>C (p.Leu1125Pro)
 dbSNP gnomAD v4
8g.115414513A>TCA372062839TRPS1c.3395T>A (p.Leu1132His)
c.3356T>A (p.Leu1119His)
c.729T>A
c.2618T>A (p.Leu873His)
c.3368T>A (p.Leu1123His)
c.3374T>A (p.Leu1125His)
8g.115414514G>ACA372062841TRPS1c.3394C>T (p.Leu1132Phe)
c.3355C>T (p.Leu1119Phe)
c.728C>T
c.2617C>T (p.Leu873Phe)
c.3367C>T (p.Leu1123Phe)
c.3373C>T (p.Leu1125Phe)
8g.115414514G>CCA372062842TRPS1c.3394C>G (p.Leu1132Val)
c.3355C>G (p.Leu1119Val)
c.728C>G
c.2617C>G (p.Leu873Val)
c.3367C>G (p.Leu1123Val)
c.3373C>G (p.Leu1125Val)
8g.115414514G>TCA372062840TRPS1c.3394C>A (p.Leu1132Ile)
c.3355C>A (p.Leu1119Ile)
c.728C>A
c.2617C>A (p.Leu873Ile)
c.3367C>A (p.Leu1123Ile)
c.3373C>A (p.Leu1125Ile)
8g.115414515C>ACA372062844TRPS1c.3393G>T (p.Lys1131Asn)
c.3354G>T (p.Lys1118Asn)
c.727G>T
c.2616G>T (p.Lys872Asn)
c.3366G>T (p.Lys1122Asn)
c.3372G>T (p.Lys1124Asn)
8g.115414515C>GCA372062843TRPS1c.3393G>C (p.Lys1131Asn)
c.3354G>C (p.Lys1118Asn)
c.727G>C
c.2616G>C (p.Lys872Asn)
c.3366G>C (p.Lys1122Asn)
c.3372G>C (p.Lys1124Asn)
8g.115414515C>TCA462658217TRPS1c.3393G>A (p.Lys1131=)
c.3354G>A (p.Lys1118=)
c.727G>A
c.2616G>A (p.Lys872=)
c.3366G>A (p.Lys1122=)
c.3372G>A (p.Lys1124=)
8g.115414516T>ACA372062847TRPS1c.3392A>T (p.Lys1131Met)
c.3353A>T (p.Lys1118Met)
c.726A>T
c.2615A>T (p.Lys872Met)
c.3365A>T (p.Lys1122Met)
c.3371A>T (p.Lys1124Met)
8g.115414516T>CCA372062845TRPS1c.3392A>G (p.Lys1131Arg)
c.3353A>G (p.Lys1118Arg)
c.726A>G
c.2615A>G (p.Lys872Arg)
c.3365A>G (p.Lys1122Arg)
c.3371A>G (p.Lys1124Arg)
 COSMIC COSMIC
8g.115414516T>GCA372062846TRPS1c.3392A>C (p.Lys1131Thr)
c.3353A>C (p.Lys1118Thr)
c.726A>C
c.2615A>C (p.Lys872Thr)
c.3365A>C (p.Lys1122Thr)
c.3371A>C (p.Lys1124Thr)
 gnomAD v4
8g.115414517T>ACA372062848TRPS1c.3391A>T (p.Lys1131Ter)
c.3352A>T (p.Lys1118Ter)
c.725A>T
c.2614A>T (p.Lys872Ter)
c.3364A>T (p.Lys1122Ter)
c.3370A>T (p.Lys1124Ter)
8g.115414517T>CCA372062849TRPS1c.3391A>G (p.Lys1131Glu)
c.3352A>G (p.Lys1118Glu)
c.725A>G
c.2614A>G (p.Lys872Glu)
c.3364A>G (p.Lys1122Glu)
c.3370A>G (p.Lys1124Glu)
8g.115414517T>GCA372062850TRPS1c.3391A>C (p.Lys1131Gln)
c.3352A>C (p.Lys1118Gln)
c.725A>C
c.2614A>C (p.Lys872Gln)
c.3364A>C (p.Lys1122Gln)
c.3370A>C (p.Lys1124Gln)
8g.115414518A=CA1812853943TRPS1c.3390T= (p.Tyr1130=)
c.3351T= (p.Tyr1117=)
c.724T=
c.2613T= (p.Tyr871=)
c.3363T= (p.Tyr1121=)
c.3369T= (p.Tyr1123=)
8g.115414518A>CCA372062851TRPS1c.3390T>G (p.Tyr1130Ter)
c.3351T>G (p.Tyr1117Ter)
c.724T>G
c.2613T>G (p.Tyr871Ter)
c.3363T>G (p.Tyr1121Ter)
c.3369T>G (p.Tyr1123Ter)
8g.115414518A>GCA4851493TRPS1c.3390T>C (p.Tyr1130=)
c.3351T>C (p.Tyr1117=)
c.724T>C
c.2613T>C (p.Tyr871=)
c.3363T>C (p.Tyr1121=)
c.3369T>C (p.Tyr1123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414518A>TCA372062852TRPS1c.3390T>A (p.Tyr1130Ter)
c.3351T>A (p.Tyr1117Ter)
c.724T>A
c.2613T>A (p.Tyr871Ter)
c.3363T>A (p.Tyr1121Ter)
c.3369T>A (p.Tyr1123Ter)
8g.115414519T>ACA372062853TRPS1c.3389A>T (p.Tyr1130Phe)
c.3350A>T (p.Tyr1117Phe)
c.723A>T
c.2612A>T (p.Tyr871Phe)
c.3362A>T (p.Tyr1121Phe)
c.3368A>T (p.Tyr1123Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.115414519T>CCA372062854TRPS1c.3389A>G (p.Tyr1130Cys)
c.3350A>G (p.Tyr1117Cys)
c.723A>G
c.2612A>G (p.Tyr871Cys)
c.3362A>G (p.Tyr1121Cys)
c.3368A>G (p.Tyr1123Cys)
8g.115414519T>GCA372062855TRPS1c.3389A>C (p.Tyr1130Ser)
c.3350A>C (p.Tyr1117Ser)
c.723A>C
c.2612A>C (p.Tyr871Ser)
c.3362A>C (p.Tyr1121Ser)
c.3368A>C (p.Tyr1123Ser)
8g.115414519T=CA1812853945TRPS1c.3389A= (p.Tyr1130=)
c.3350A= (p.Tyr1117=)
c.723A=
c.2612A= (p.Tyr871=)
c.3362A= (p.Tyr1121=)
c.3368A= (p.Tyr1123=)
8g.115414520A>CCA372062856TRPS1c.3388T>G (p.Tyr1130Asp)
c.3349T>G (p.Tyr1117Asp)
c.722T>G
c.2611T>G (p.Tyr871Asp)
c.3361T>G (p.Tyr1121Asp)
c.3367T>G (p.Tyr1123Asp)
8g.115414520A>GCA372062857TRPS1c.3388T>C (p.Tyr1130His)
c.3349T>C (p.Tyr1117His)
c.722T>C
c.2611T>C (p.Tyr871His)
c.3361T>C (p.Tyr1121His)
c.3367T>C (p.Tyr1123His)
8g.115414520A>TCA372062858TRPS1c.3388T>A (p.Tyr1130Asn)
c.3349T>A (p.Tyr1117Asn)
c.722T>A
c.2611T>A (p.Tyr871Asn)
c.3361T>A (p.Tyr1121Asn)
c.3367T>A (p.Tyr1123Asn)
8g.115414521T>ACA372062859TRPS1c.3387A>T (p.Lys1129Asn)
c.3348A>T (p.Lys1116Asn)
c.721A>T
c.2610A>T (p.Lys870Asn)
c.3360A>T (p.Lys1120Asn)
c.3366A>T (p.Lys1122Asn)
8g.115414521T>CCA462658218TRPS1c.3387A>G (p.Lys1129=)
c.3348A>G (p.Lys1116=)
c.721A>G
c.2610A>G (p.Lys870=)
c.3360A>G (p.Lys1120=)
c.3366A>G (p.Lys1122=)
8g.115414521T>GCA372062860TRPS1c.3387A>C (p.Lys1129Asn)
c.3348A>C (p.Lys1116Asn)
c.721A>C
c.2610A>C (p.Lys870Asn)
c.3360A>C (p.Lys1120Asn)
c.3366A>C (p.Lys1122Asn)
8g.115414522T>ACA372062861TRPS1c.3386A>T (p.Lys1129Ile)
c.3347A>T (p.Lys1116Ile)
c.720A>T
c.2609A>T (p.Lys870Ile)
c.3359A>T (p.Lys1120Ile)
c.3365A>T (p.Lys1122Ile)
8g.115414522T>CCA372062862TRPS1c.3386A>G (p.Lys1129Arg)
c.3347A>G (p.Lys1116Arg)
c.720A>G
c.2609A>G (p.Lys870Arg)
c.3359A>G (p.Lys1120Arg)
c.3365A>G (p.Lys1122Arg)
 gnomAD v4
8g.115414522T>GCA372062863TRPS1c.3386A>C (p.Lys1129Thr)
c.3347A>C (p.Lys1116Thr)
c.720A>C
c.2609A>C (p.Lys870Thr)
c.3359A>C (p.Lys1120Thr)
c.3365A>C (p.Lys1122Thr)
8g.115414523T>ACA372062864TRPS1c.3385A>T (p.Lys1129Ter)
c.3346A>T (p.Lys1116Ter)
c.719A>T
c.2608A>T (p.Lys870Ter)
c.3358A>T (p.Lys1120Ter)
c.3364A>T (p.Lys1122Ter)
 COSMIC COSMIC
8g.115414523T>CCA372062865TRPS1c.3385A>G (p.Lys1129Glu)
c.3346A>G (p.Lys1116Glu)
c.719A>G
c.2608A>G (p.Lys870Glu)
c.3358A>G (p.Lys1120Glu)
c.3364A>G (p.Lys1122Glu)
8g.115414523T>GCA372062866TRPS1c.3385A>C (p.Lys1129Gln)
c.3346A>C (p.Lys1116Gln)
c.719A>C
c.2608A>C (p.Lys870Gln)
c.3358A>C (p.Lys1120Gln)
c.3364A>C (p.Lys1122Gln)
8g.115414524A>CCA372062867TRPS1c.3384T>G (p.Ser1128Arg)
c.3345T>G (p.Ser1115Arg)
c.718T>G
c.2607T>G (p.Ser869Arg)
c.3357T>G (p.Ser1119Arg)
c.3363T>G (p.Ser1121Arg)
8g.115414524A>GCA462658222TRPS1c.3384T>C (p.Ser1128=)
c.3345T>C (p.Ser1115=)
c.718T>C
c.2607T>C (p.Ser869=)
c.3357T>C (p.Ser1119=)
c.3363T>C (p.Ser1121=)
8g.115414524A>TCA372062868TRPS1c.3384T>A (p.Ser1128Arg)
c.3345T>A (p.Ser1115Arg)
c.718T>A
c.2607T>A (p.Ser869Arg)
c.3357T>A (p.Ser1119Arg)
c.3363T>A (p.Ser1121Arg)
8g.115414525C>ACA372062869TRPS1c.3383G>T (p.Ser1128Ile)
c.3344G>T (p.Ser1115Ile)
c.717G>T
c.2606G>T (p.Ser869Ile)
c.3356G>T (p.Ser1119Ile)
c.3362G>T (p.Ser1121Ile)
8g.115414525C=CA1812853950TRPS1c.3383G= (p.Ser1128=)
c.3344G= (p.Ser1115=)
c.717G=
c.2606G= (p.Ser869=)
c.3356G= (p.Ser1119=)
c.3362G= (p.Ser1121=)
8g.115414525C>GCA372062870TRPS1c.3383G>C (p.Ser1128Thr)
c.3344G>C (p.Ser1115Thr)
c.717G>C
c.2606G>C (p.Ser869Thr)
c.3356G>C (p.Ser1119Thr)
c.3362G>C (p.Ser1121Thr)
8g.115414525C>TCA372062871TRPS1c.3383G>A (p.Ser1128Asn)
c.3344G>A (p.Ser1115Asn)
c.717G>A
c.2606G>A (p.Ser869Asn)
c.3356G>A (p.Ser1119Asn)
c.3362G>A (p.Ser1121Asn)
 dbSNP
8g.115414526T>ACA372062874TRPS1c.3382A>T (p.Ser1128Cys)
c.3343A>T (p.Ser1115Cys)
c.716A>T
c.2605A>T (p.Ser869Cys)
c.3355A>T (p.Ser1119Cys)
c.3361A>T (p.Ser1121Cys)
8g.115414526T>CCA372062873TRPS1c.3382A>G (p.Ser1128Gly)
c.3343A>G (p.Ser1115Gly)
c.716A>G
c.2605A>G (p.Ser869Gly)
c.3355A>G (p.Ser1119Gly)
c.3361A>G (p.Ser1121Gly)
8g.115414526T>GCA372062872TRPS1c.3382A>C (p.Ser1128Arg)
c.3343A>C (p.Ser1115Arg)
c.716A>C
c.2605A>C (p.Ser869Arg)
c.3355A>C (p.Ser1119Arg)
c.3361A>C (p.Ser1121Arg)
8g.115414527C>ACA372062875TRPS1c.3381G>T (p.Trp1127Cys)
c.3342G>T (p.Trp1114Cys)
c.715G>T
c.2604G>T (p.Trp868Cys)
c.3354G>T (p.Trp1118Cys)
c.3360G>T (p.Trp1120Cys)
8g.115414527C=CA1812853953TRPS1c.3381G= (p.Trp1127=)
c.3342G= (p.Trp1114=)
c.715G=
c.2604G= (p.Trp868=)
c.3354G= (p.Trp1118=)
c.3360G= (p.Trp1120=)
8g.115414527C>GCA372062876TRPS1c.3381G>C (p.Trp1127Cys)
c.3342G>C (p.Trp1114Cys)
c.715G>C
c.2604G>C (p.Trp868Cys)
c.3354G>C (p.Trp1118Cys)
c.3360G>C (p.Trp1120Cys)
 dbSNP
8g.115414527C>TCA372062877TRPS1c.3381G>A (p.Trp1127Ter)
c.3342G>A (p.Trp1114Ter)
c.715G>A
c.2604G>A (p.Trp868Ter)
c.3354G>A (p.Trp1118Ter)
c.3360G>A (p.Trp1120Ter)
8g.115414528C>ACA372062878TRPS1c.3380G>T (p.Trp1127Leu)
c.3341G>T (p.Trp1114Leu)
c.714G>T
c.2603G>T (p.Trp868Leu)
c.3353G>T (p.Trp1118Leu)
c.3359G>T (p.Trp1120Leu)
8g.115414528C>GCA372062879TRPS1c.3380G>C (p.Trp1127Ser)
c.3341G>C (p.Trp1114Ser)
c.714G>C
c.2603G>C (p.Trp868Ser)
c.3353G>C (p.Trp1118Ser)
c.3359G>C (p.Trp1120Ser)
 COSMIC COSMIC
8g.115414528C>TCA372062880TRPS1c.3380G>A (p.Trp1127Ter)
c.3341G>A (p.Trp1114Ter)
c.714G>A
c.2603G>A (p.Trp868Ter)
c.3353G>A (p.Trp1118Ter)
c.3359G>A (p.Trp1120Ter)
8g.115414529A>CCA372062883TRPS1c.3379T>G (p.Trp1127Gly)
c.3340T>G (p.Trp1114Gly)
c.713T>G
c.2602T>G (p.Trp868Gly)
c.3352T>G (p.Trp1118Gly)
c.3358T>G (p.Trp1120Gly)
8g.115414529A>GCA372062881TRPS1c.3379T>C (p.Trp1127Arg)
c.3340T>C (p.Trp1114Arg)
c.713T>C
c.2602T>C (p.Trp868Arg)
c.3352T>C (p.Trp1118Arg)
c.3358T>C (p.Trp1120Arg)
8g.115414529A>TCA372062882TRPS1c.3379T>A (p.Trp1127Arg)
c.3340T>A (p.Trp1114Arg)
c.713T>A
c.2602T>A (p.Trp868Arg)
c.3352T>A (p.Trp1118Arg)
c.3358T>A (p.Trp1120Arg)
8g.115414530G>ACA462658225TRPS1c.3378C>T (p.Phe1126=)
c.3339C>T (p.Phe1113=)
c.712C>T
c.2601C>T (p.Phe867=)
c.3351C>T (p.Phe1117=)
c.3357C>T (p.Phe1119=)
8g.115414530G>CCA372062884TRPS1c.3378C>G (p.Phe1126Leu)
c.3339C>G (p.Phe1113Leu)
c.712C>G
c.2601C>G (p.Phe867Leu)
c.3351C>G (p.Phe1117Leu)
c.3357C>G (p.Phe1119Leu)
8g.115414530G>TCA372062885TRPS1c.3378C>A (p.Phe1126Leu)
c.3339C>A (p.Phe1113Leu)
c.712C>A
c.2601C>A (p.Phe867Leu)
c.3351C>A (p.Phe1117Leu)
c.3357C>A (p.Phe1119Leu)
8g.115414531A>CCA372062886TRPS1c.3377T>G (p.Phe1126Cys)
c.3338T>G (p.Phe1113Cys)
c.711T>G
c.2600T>G (p.Phe867Cys)
c.3350T>G (p.Phe1117Cys)
c.3356T>G (p.Phe1119Cys)
8g.115414531A>GCA372062887TRPS1c.3377T>C (p.Phe1126Ser)
c.3338T>C (p.Phe1113Ser)
c.711T>C
c.2600T>C (p.Phe867Ser)
c.3350T>C (p.Phe1117Ser)
c.3356T>C (p.Phe1119Ser)
8g.115414531A>TCA372062888TRPS1c.3377T>A (p.Phe1126Tyr)
c.3338T>A (p.Phe1113Tyr)
c.711T>A
c.2600T>A (p.Phe867Tyr)
c.3350T>A (p.Phe1117Tyr)
c.3356T>A (p.Phe1119Tyr)
8g.115414532A>CCA372062889TRPS1c.3376T>G (p.Phe1126Val)
c.3337T>G (p.Phe1113Val)
c.710T>G
c.2599T>G (p.Phe867Val)
c.3349T>G (p.Phe1117Val)
c.3355T>G (p.Phe1119Val)
8g.115414532A>GCA372062891TRPS1c.3376T>C (p.Phe1126Leu)
c.3337T>C (p.Phe1113Leu)
c.710T>C
c.2599T>C (p.Phe867Leu)
c.3349T>C (p.Phe1117Leu)
c.3355T>C (p.Phe1119Leu)
8g.115414532A>TCA372062890TRPS1c.3376T>A (p.Phe1126Ile)
c.3337T>A (p.Phe1113Ile)
c.710T>A
c.2599T>A (p.Phe867Ile)
c.3349T>A (p.Phe1117Ile)
c.3355T>A (p.Phe1119Ile)
8g.115414533C>ACA462658229TRPS1c.3375G>T (p.Arg1125=)
c.3336G>T (p.Arg1112=)
c.709G>T
c.2598G>T (p.Arg866=)
c.3348G>T (p.Arg1116=)
c.3354G>T (p.Arg1118=)
8g.115414533C=CA1812853956TRPS1c.3375G= (p.Arg1125=)
c.3336G= (p.Arg1112=)
c.709G=
c.2598G= (p.Arg866=)
c.3348G= (p.Arg1116=)
c.3354G= (p.Arg1118=)
8g.115414533C>GCA4851494TRPS1c.3375G>C (p.Arg1125=)
c.3336G>C (p.Arg1112=)
c.709G>C
c.2598G>C (p.Arg866=)
c.3348G>C (p.Arg1116=)
c.3354G>C (p.Arg1118=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414533C>TCA462658228TRPS1c.3375G>A (p.Arg1125=)
c.3336G>A (p.Arg1112=)
c.709G>A
c.2598G>A (p.Arg866=)
c.3348G>A (p.Arg1116=)
c.3354G>A (p.Arg1118=)
 dbSNP
8g.115414534C>ACA372062892TRPS1c.3374G>T (p.Arg1125Leu)
c.3335G>T (p.Arg1112Leu)
c.708G>T
c.2597G>T (p.Arg866Leu)
c.3347G>T (p.Arg1116Leu)
c.3353G>T (p.Arg1118Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115414534C=CA1812853959TRPS1c.3374G= (p.Arg1125=)
c.3335G= (p.Arg1112=)
c.708G=
c.2597G= (p.Arg866=)
c.3347G= (p.Arg1116=)
c.3353G= (p.Arg1118=)
8g.115414534C>GCA372062893TRPS1c.3374G>C (p.Arg1125Pro)
c.3335G>C (p.Arg1112Pro)
c.708G>C
c.2597G>C (p.Arg866Pro)
c.3347G>C (p.Arg1116Pro)
c.3353G>C (p.Arg1118Pro)
8g.115414534C>TCA4851495TRPS1c.3374G>A (p.Arg1125Gln)
c.3335G>A (p.Arg1112Gln)
c.708G>A
c.2597G>A (p.Arg866Gln)
c.3347G>A (p.Arg1116Gln)
c.3353G>A (p.Arg1118Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115414535G>ACA4851496TRPS1c.3373C>T (p.Arg1125Trp)
c.3334C>T (p.Arg1112Trp)
c.707C>T
c.2596C>T (p.Arg866Trp)
c.3346C>T (p.Arg1116Trp)
c.3352C>T (p.Arg1118Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.115414535G>CCA372062894TRPS1c.3373C>G (p.Arg1125Gly)
c.3334C>G (p.Arg1112Gly)
c.707C>G
c.2596C>G (p.Arg866Gly)
c.3346C>G (p.Arg1116Gly)
c.3352C>G (p.Arg1118Gly)
8g.115414535G=CA1812853961TRPS1c.3373C= (p.Arg1125=)
c.3334C= (p.Arg1112=)
c.707C=
c.2596C= (p.Arg866=)
c.3346C= (p.Arg1116=)
c.3352C= (p.Arg1118=)
8g.115414535G>TCA462658233TRPS1c.3373C>A (p.Arg1125=)
c.3334C>A (p.Arg1112=)
c.707C>A
c.2596C>A (p.Arg866=)
c.3346C>A (p.Arg1116=)
c.3352C>A (p.Arg1118=)
 dbSNP gnomAD v2
8g.115414536C>ACA462658234TRPS1c.3372G>T (p.Leu1124=)
c.3333G>T (p.Leu1111=)
c.706G>T
c.2595G>T (p.Leu865=)
c.3345G>T (p.Leu1115=)
c.3351G>T (p.Leu1117=)
8g.115414536C>GCA462658235TRPS1c.3372G>C (p.Leu1124=)
c.3333G>C (p.Leu1111=)
c.706G>C
c.2595G>C (p.Leu865=)
c.3345G>C (p.Leu1115=)
c.3351G>C (p.Leu1117=)
8g.115414536C>TCA462658236TRPS1c.3372G>A (p.Leu1124=)
c.3333G>A (p.Leu1111=)
c.706G>A
c.2595G>A (p.Leu865=)
c.3345G>A (p.Leu1115=)
c.3351G>A (p.Leu1117=)
 COSMIC COSMIC
8g.115414537A>CCA372062895TRPS1c.3371T>G (p.Leu1124Arg)
c.3332T>G (p.Leu1111Arg)
c.705T>G
c.2594T>G (p.Leu865Arg)
c.3344T>G (p.Leu1115Arg)
c.3350T>G (p.Leu1117Arg)
8g.115414537A>GCA372062896TRPS1c.3371T>C (p.Leu1124Pro)
c.3332T>C (p.Leu1111Pro)
c.705T>C
c.2594T>C (p.Leu865Pro)
c.3344T>C (p.Leu1115Pro)
c.3350T>C (p.Leu1117Pro)
8g.115414537A>TCA372062897TRPS1c.3371T>A (p.Leu1124Gln)
c.3332T>A (p.Leu1111Gln)
c.705T>A
c.2594T>A (p.Leu865Gln)
c.3344T>A (p.Leu1115Gln)
c.3350T>A (p.Leu1117Gln)
8g.115414538G>ACA462658238TRPS1c.3370C>T (p.Leu1124=)
c.3331C>T (p.Leu1111=)
c.704C>T
c.2593C>T (p.Leu865=)
c.3343C>T (p.Leu1115=)
c.3349C>T (p.Leu1117=)
8g.115414538G>CCA372062898TRPS1c.3370C>G (p.Leu1124Val)
c.3331C>G (p.Leu1111Val)
c.704C>G
c.2593C>G (p.Leu865Val)
c.3343C>G (p.Leu1115Val)
c.3349C>G (p.Leu1117Val)
8g.115414538G>TCA372062899TRPS1c.3370C>A (p.Leu1124Met)
c.3331C>A (p.Leu1111Met)
c.704C>A
c.2593C>A (p.Leu865Met)
c.3343C>A (p.Leu1115Met)
c.3349C>A (p.Leu1117Met)
8g.115414539C>ACA372062902TRPS1c.3369G>T (p.Trp1123Cys)
c.3330G>T (p.Trp1110Cys)
c.703G>T
c.2592G>T (p.Trp864Cys)
c.3342G>T (p.Trp1114Cys)
c.3348G>T (p.Trp1116Cys)
 dbSNP gnomAD v2
8g.115414539C=CA1812853964TRPS1c.3369G= (p.Trp1123=)
c.3330G= (p.Trp1110=)
c.703G=
c.2592G= (p.Trp864=)
c.3342G= (p.Trp1114=)
c.3348G= (p.Trp1116=)
8g.115414539C>GCA372062901TRPS1c.3369G>C (p.Trp1123Cys)
c.3330G>C (p.Trp1110Cys)
c.703G>C
c.2592G>C (p.Trp864Cys)
c.3342G>C (p.Trp1114Cys)
c.3348G>C (p.Trp1116Cys)
 gnomAD v4
8g.115414539C>TCA372062900TRPS1c.3369G>A (p.Trp1123Ter)
c.3330G>A (p.Trp1110Ter)
c.703G>A
c.2592G>A (p.Trp864Ter)
c.3342G>A (p.Trp1114Ter)
c.3348G>A (p.Trp1116Ter)
8g.115414540C>ACA372062903TRPS1c.3368G>T (p.Trp1123Leu)
c.3329G>T (p.Trp1110Leu)
c.702G>T
c.2591G>T (p.Trp864Leu)
c.3341G>T (p.Trp1114Leu)
c.3347G>T (p.Trp1116Leu)
8g.115414540C>GCA372062904TRPS1c.3368G>C (p.Trp1123Ser)
c.3329G>C (p.Trp1110Ser)
c.702G>C
c.2591G>C (p.Trp864Ser)
c.3341G>C (p.Trp1114Ser)
c.3347G>C (p.Trp1116Ser)
8g.115414540C>TCA372062905TRPS1c.3368G>A (p.Trp1123Ter)
c.3329G>A (p.Trp1110Ter)
c.702G>A
c.2591G>A (p.Trp864Ter)
c.3341G>A (p.Trp1114Ter)
c.3347G>A (p.Trp1116Ter)
8g.115414541A>CCA372062906TRPS1c.3367T>G (p.Trp1123Gly)
c.3328T>G (p.Trp1110Gly)
c.701T>G
c.2590T>G (p.Trp864Gly)
c.3340T>G (p.Trp1114Gly)
c.3346T>G (p.Trp1116Gly)
8g.115414541A>GCA372062907TRPS1c.3367T>C (p.Trp1123Arg)
c.3328T>C (p.Trp1110Arg)
c.701T>C
c.2590T>C (p.Trp864Arg)
c.3340T>C (p.Trp1114Arg)
c.3346T>C (p.Trp1116Arg)
8g.115414541A>TCA372062908TRPS1c.3367T>A (p.Trp1123Arg)
c.3328T>A (p.Trp1110Arg)
c.701T>A
c.2590T>A (p.Trp864Arg)
c.3340T>A (p.Trp1114Arg)
c.3346T>A (p.Trp1116Arg)
8g.115414542A=CA1812853968TRPS1c.3366T= (p.Asp1122=)
c.3327T= (p.Asp1109=)
c.700T=
c.2589T= (p.Asp863=)
c.3339T= (p.Asp1113=)
c.3345T= (p.Asp1115=)
8g.115414542A>CCA372062910TRPS1c.3366T>G (p.Asp1122Glu)
c.3327T>G (p.Asp1109Glu)
c.700T>G
c.2589T>G (p.Asp863Glu)
c.3339T>G (p.Asp1113Glu)
c.3345T>G (p.Asp1115Glu)
 dbSNP
8g.115414542A>GCA462658240TRPS1c.3366T>C (p.Asp1122=)
c.3327T>C (p.Asp1109=)
c.700T>C
c.2589T>C (p.Asp863=)
c.3339T>C (p.Asp1113=)
c.3345T>C (p.Asp1115=)
8g.115414542A>TCA372062909TRPS1c.3366T>A (p.Asp1122Glu)
c.3327T>A (p.Asp1109Glu)
c.700T>A
c.2589T>A (p.Asp863Glu)
c.3339T>A (p.Asp1113Glu)
c.3345T>A (p.Asp1115Glu)
8g.115414542_115414543insAACCA2549060243TRPS1c.3365_3366insGTT (p.Asp1122delinsGluPhe)
c.3326_3327insGTT (p.Asp1109delinsGluPhe)
c.699_700insGTT
c.2588_2589insGTT (p.Asp863delinsGluPhe)
c.3338_3339insGTT (p.Asp1113delinsGluPhe)
c.3344_3345insGTT (p.Asp1115delinsGluPhe)
8g.115414543T>ACA4851497TRPS1c.3365A>T (p.Asp1122Val)
c.3326A>T (p.Asp1109Val)
c.699A>T
c.2588A>T (p.Asp863Val)
c.3338A>T (p.Asp1113Val)
c.3344A>T (p.Asp1115Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414543T>CCA372062911TRPS1c.3365A>G (p.Asp1122Gly)
c.3326A>G (p.Asp1109Gly)
c.699A>G
c.2588A>G (p.Asp863Gly)
c.3338A>G (p.Asp1113Gly)
c.3344A>G (p.Asp1115Gly)
8g.115414543T>GCA372062912TRPS1c.3365A>C (p.Asp1122Ala)
c.3326A>C (p.Asp1109Ala)
c.699A>C
c.2588A>C (p.Asp863Ala)
c.3338A>C (p.Asp1113Ala)
c.3344A>C (p.Asp1115Ala)
8g.115414543T=CA1812853969TRPS1c.3365A= (p.Asp1122=)
c.3326A= (p.Asp1109=)
c.699A=
c.2588A= (p.Asp863=)
c.3338A= (p.Asp1113=)
c.3344A= (p.Asp1115=)
8g.115414543_115414544insATGTGCCTTATCCCA2547821305TRPS1c.3364_3365insGGATAAGGCACAT (p.Asp1122GlyfsTer12)
c.3325_3326insGGATAAGGCACAT (p.Asp1109GlyfsTer12)
c.698_699insGGATAAGGCACAT
c.2587_2588insGGATAAGGCACAT (p.Asp863GlyfsTer12)
c.3337_3338insGGATAAGGCACAT (p.Asp1113GlyfsTer12)
c.3343_3344insGGATAAGGCACAT (p.Asp1115GlyfsTer12)
8g.115414544C>ACA372062913TRPS1c.3364G>T (p.Asp1122Tyr)
c.3325G>T (p.Asp1109Tyr)
c.698G>T
c.2587G>T (p.Asp863Tyr)
c.3337G>T (p.Asp1113Tyr)
c.3343G>T (p.Asp1115Tyr)
8g.115414544C=CA1812853972TRPS1c.3364G= (p.Asp1122=)
c.3325G= (p.Asp1109=)
c.698G=
c.2587G= (p.Asp863=)
c.3337G= (p.Asp1113=)
c.3343G= (p.Asp1115=)
8g.115414544C>GCA372062914TRPS1c.3364G>C (p.Asp1122His)
c.3325G>C (p.Asp1109His)
c.698G>C
c.2587G>C (p.Asp863His)
c.3337G>C (p.Asp1113His)
c.3343G>C (p.Asp1115His)
8g.115414544C>TCA372062915TRPS1c.3364G>A (p.Asp1122Asn)
c.3325G>A (p.Asp1109Asn)
c.698G>A
c.2587G>A (p.Asp863Asn)
c.3337G>A (p.Asp1113Asn)
c.3343G>A (p.Asp1115Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.115414545A>CCA462658244TRPS1c.3363T>G (p.Ala1121=)
c.3324T>G (p.Ala1108=)
c.697T>G
c.2586T>G (p.Ala862=)
c.3336T>G (p.Ala1112=)
c.3342T>G (p.Ala1114=)
8g.115414545A>GCA462658246TRPS1c.3363T>C (p.Ala1121=)
c.3324T>C (p.Ala1108=)
c.697T>C
c.2586T>C (p.Ala862=)
c.3336T>C (p.Ala1112=)
c.3342T>C (p.Ala1114=)
8g.115414545A>TCA462658245TRPS1c.3363T>A (p.Ala1121=)
c.3324T>A (p.Ala1108=)
c.697T>A
c.2586T>A (p.Ala862=)
c.3336T>A (p.Ala1112=)
c.3342T>A (p.Ala1114=)
8g.115414546G>ACA372062918TRPS1c.3362C>T (p.Ala1121Val)
c.3323C>T (p.Ala1108Val)
c.696C>T
c.2585C>T (p.Ala862Val)
c.3335C>T (p.Ala1112Val)
c.3341C>T (p.Ala1114Val)
8g.115414546G>CCA372062916TRPS1c.3362C>G (p.Ala1121Gly)
c.3323C>G (p.Ala1108Gly)
c.696C>G
c.2585C>G (p.Ala862Gly)
c.3335C>G (p.Ala1112Gly)
c.3341C>G (p.Ala1114Gly)
 gnomAD v4 COSMIC COSMIC
8g.115414546G>TCA372062917TRPS1c.3362C>A (p.Ala1121Asp)
c.3323C>A (p.Ala1108Asp)
c.696C>A
c.2585C>A (p.Ala862Asp)
c.3335C>A (p.Ala1112Asp)
c.3341C>A (p.Ala1114Asp)
8g.115414547C>ACA372062919TRPS1c.3361G>T (p.Ala1121Ser)
c.3322G>T (p.Ala1108Ser)
c.695G>T
c.2584G>T (p.Ala862Ser)
c.3334G>T (p.Ala1112Ser)
c.3340G>T (p.Ala1114Ser)
8g.115414547C>GCA372062920TRPS1c.3361G>C (p.Ala1121Pro)
c.3322G>C (p.Ala1108Pro)
c.695G>C
c.2584G>C (p.Ala862Pro)
c.3334G>C (p.Ala1112Pro)
c.3340G>C (p.Ala1114Pro)
8g.115414547C>TCA372062921TRPS1c.3361G>A (p.Ala1121Thr)
c.3322G>A (p.Ala1108Thr)
c.695G>A
c.2584G>A (p.Ala862Thr)
c.3334G>A (p.Ala1112Thr)
c.3340G>A (p.Ala1114Thr)
8g.115414592_115414593insACTTCACTCTGGAAGTCATTATGTACAAAGGGAAGTCCAAAAAGTGGCA2718161168TRPS1c.3361_3362insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG (p.Ala1121ValfsTer37)
c.3322_3323insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG (p.Ala1108ValfsTer37)
c.695_696insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG
c.2584_2585insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG (p.Ala862ValfsTer37)
c.3334_3335insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG (p.Ala1112ValfsTer37)
c.3340_3341insTCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAAG (p.Ala1114ValfsTer37)
 dbSNP
8g.115414548T>ACA372062922TRPS1c.3360A>T (p.Glu1120Asp)
c.3321A>T (p.Glu1107Asp)
c.694A>T
c.2583A>T (p.Glu861Asp)
c.3333A>T (p.Glu1111Asp)
c.3339A>T (p.Glu1113Asp)
8g.115414548T>CCA462658248TRPS1c.3360A>G (p.Glu1120=)
c.3321A>G (p.Glu1107=)
c.694A>G
c.2583A>G (p.Glu861=)
c.3333A>G (p.Glu1111=)
c.3339A>G (p.Glu1113=)
 dbSNP gnomAD v2 gnomAD v4
8g.115414548T>GCA372062923TRPS1c.3360A>C (p.Glu1120Asp)
c.3321A>C (p.Glu1107Asp)
c.694A>C
c.2583A>C (p.Glu861Asp)
c.3333A>C (p.Glu1111Asp)
c.3339A>C (p.Glu1113Asp)
8g.115414548T=CA1812853974TRPS1c.3360A= (p.Glu1120=)
c.3321A= (p.Glu1107=)
c.694A=
c.2583A= (p.Glu861=)
c.3333A= (p.Glu1111=)
c.3339A= (p.Glu1113=)
8g.115414549T>ACA372062924TRPS1c.3359A>T (p.Glu1120Val)
c.3320A>T (p.Glu1107Val)
c.693A>T
c.2582A>T (p.Glu861Val)
c.3332A>T (p.Glu1111Val)
c.3338A>T (p.Glu1113Val)
8g.115414549T>CCA372062925TRPS1c.3359A>G (p.Glu1120Gly)
c.3320A>G (p.Glu1107Gly)
c.693A>G
c.2582A>G (p.Glu861Gly)
c.3332A>G (p.Glu1111Gly)
c.3338A>G (p.Glu1113Gly)
8g.115414549T>GCA372062926TRPS1c.3359A>C (p.Glu1120Ala)
c.3320A>C (p.Glu1107Ala)
c.693A>C
c.2582A>C (p.Glu861Ala)
c.3332A>C (p.Glu1111Ala)
c.3338A>C (p.Glu1113Ala)
8g.115414550_115414555dupCA2688317594TRPS1c.3354_3359dup (p.Glu1120_Ala1121insSerGlu)
c.3315_3320dup (p.Glu1107_Ala1108insSerGlu)
c.688_693dup
c.2577_2582dup (p.Glu861_Ala862insSerGlu)
c.3327_3332dup (p.Glu1111_Ala1112insSerGlu)
c.3333_3338dup (p.Glu1113_Ala1114insSerGlu)
 gnomAD v4
8g.115414550C>ACA372062927TRPS1c.3358G>T (p.Glu1120Ter)
c.3319G>T (p.Glu1107Ter)
c.692G>T
c.2581G>T (p.Glu861Ter)
c.3331G>T (p.Glu1111Ter)
c.3337G>T (p.Glu1113Ter)
8g.115414550C=CA1812853977TRPS1c.3358G= (p.Glu1120=)
c.3319G= (p.Glu1107=)
c.692G=
c.2581G= (p.Glu861=)
c.3331G= (p.Glu1111=)
c.3337G= (p.Glu1113=)
8g.115414550C>GCA372062928TRPS1c.3358G>C (p.Glu1120Gln)
c.3319G>C (p.Glu1107Gln)
c.692G>C
c.2581G>C (p.Glu861Gln)
c.3331G>C (p.Glu1111Gln)
c.3337G>C (p.Glu1113Gln)
8g.115414550C>TCA184469585TRPS1c.3358G>A (p.Glu1120Lys)
c.3319G>A (p.Glu1107Lys)
c.692G>A
c.2581G>A (p.Glu861Lys)
c.3331G>A (p.Glu1111Lys)
c.3337G>A (p.Glu1113Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.115414551A>CCA372062929TRPS1c.3357T>G (p.Ser1119Arg)
c.3318T>G (p.Ser1106Arg)
c.691T>G
c.2580T>G (p.Ser860Arg)
c.3330T>G (p.Ser1110Arg)
c.3336T>G (p.Ser1112Arg)
8g.115414551A>GCA462658252TRPS1c.3357T>C (p.Ser1119=)
c.3318T>C (p.Ser1106=)
c.691T>C
c.2580T>C (p.Ser860=)
c.3330T>C (p.Ser1110=)
c.3336T>C (p.Ser1112=)
8g.115414551A>TCA372062930TRPS1c.3357T>A (p.Ser1119Arg)
c.3318T>A (p.Ser1106Arg)
c.691T>A
c.2580T>A (p.Ser860Arg)
c.3330T>A (p.Ser1110Arg)
c.3336T>A (p.Ser1112Arg)
 dbSNP
8g.115414552C>ACA372062931TRPS1c.3356G>T (p.Ser1119Ile)
c.3317G>T (p.Ser1106Ile)
c.690G>T
c.2579G>T (p.Ser860Ile)
c.3329G>T (p.Ser1110Ile)
c.3335G>T (p.Ser1112Ile)
8g.115414552C>GCA372062933TRPS1c.3356G>C (p.Ser1119Thr)
c.3317G>C (p.Ser1106Thr)
c.690G>C
c.2579G>C (p.Ser860Thr)
c.3329G>C (p.Ser1110Thr)
c.3335G>C (p.Ser1112Thr)
8g.115414552C>TCA372062932TRPS1c.3356G>A (p.Ser1119Asn)
c.3317G>A (p.Ser1106Asn)
c.690G>A
c.2579G>A (p.Ser860Asn)
c.3329G>A (p.Ser1110Asn)
c.3335G>A (p.Ser1112Asn)
8g.115414553T>ACA372062934TRPS1c.3355A>T (p.Ser1119Cys)
c.3316A>T (p.Ser1106Cys)
c.689A>T
c.2578A>T (p.Ser860Cys)
c.3328A>T (p.Ser1110Cys)
c.3334A>T (p.Ser1112Cys)
8g.115414553T>CCA372062935TRPS1c.3355A>G (p.Ser1119Gly)
c.3316A>G (p.Ser1106Gly)
c.689A>G
c.2578A>G (p.Ser860Gly)
c.3328A>G (p.Ser1110Gly)
c.3334A>G (p.Ser1112Gly)
 dbSNP gnomAD v4
8g.115414553T>GCA372062936TRPS1c.3355A>C (p.Ser1119Arg)
c.3316A>C (p.Ser1106Arg)
c.689A>C
c.2578A>C (p.Ser860Arg)
c.3328A>C (p.Ser1110Arg)
c.3334A>C (p.Ser1112Arg)
8g.115414553T=CA1812853979TRPS1c.3355A= (p.Ser1119=)
c.3316A= (p.Ser1106=)
c.689A=
c.2578A= (p.Ser860=)
c.3328A= (p.Ser1110=)
c.3334A= (p.Ser1112=)
8g.115414554C>ACA372062937TRPS1c.3354G>T (p.Gln1118His)
c.3315G>T (p.Gln1105His)
c.688G>T
c.2577G>T (p.Gln859His)
c.3327G>T (p.Gln1109His)
c.3333G>T (p.Gln1111His)
8g.115414554C>GCA372062938TRPS1c.3354G>C (p.Gln1118His)
c.3315G>C (p.Gln1105His)
c.688G>C
c.2577G>C (p.Gln859His)
c.3327G>C (p.Gln1109His)
c.3333G>C (p.Gln1111His)
8g.115414554C>TCA462658256TRPS1c.3354G>A (p.Gln1118=)
c.3315G>A (p.Gln1105=)
c.688G>A
c.2577G>A (p.Gln859=)
c.3327G>A (p.Gln1109=)
c.3333G>A (p.Gln1111=)
8g.115414555T>ACA372062941TRPS1c.3353A>T (p.Gln1118Leu)
c.3314A>T (p.Gln1105Leu)
c.687A>T
c.2576A>T (p.Gln859Leu)
c.3326A>T (p.Gln1109Leu)
c.3332A>T (p.Gln1111Leu)
8g.115414555T>CCA372062940TRPS1c.3353A>G (p.Gln1118Arg)
c.3314A>G (p.Gln1105Arg)
c.687A>G
c.2576A>G (p.Gln859Arg)
c.3326A>G (p.Gln1109Arg)
c.3332A>G (p.Gln1111Arg)
8g.115414555T>GCA372062939TRPS1c.3353A>C (p.Gln1118Pro)
c.3314A>C (p.Gln1105Pro)
c.687A>C
c.2576A>C (p.Gln859Pro)
c.3326A>C (p.Gln1109Pro)
c.3332A>C (p.Gln1111Pro)
8g.115414556G>ACA372062942TRPS1c.3352C>T (p.Gln1118Ter)
c.3313C>T (p.Gln1105Ter)
c.686C>T
c.2575C>T (p.Gln859Ter)
c.3325C>T (p.Gln1109Ter)
c.3331C>T (p.Gln1111Ter)
8g.115414556G>CCA372062943TRPS1c.3352C>G (p.Gln1118Glu)
c.3313C>G (p.Gln1105Glu)
c.686C>G
c.2575C>G (p.Gln859Glu)
c.3325C>G (p.Gln1109Glu)
c.3331C>G (p.Gln1111Glu)
8g.115414556G>TCA372062944TRPS1c.3352C>A (p.Gln1118Lys)
c.3313C>A (p.Gln1105Lys)
c.686C>A
c.2575C>A (p.Gln859Lys)
c.3325C>A (p.Gln1109Lys)
c.3331C>A (p.Gln1111Lys)
8g.115414557G>ACA184469588TRPS1c.3351C>T (p.Phe1117=)
c.3312C>T (p.Phe1104=)
c.685C>T
c.2574C>T (p.Phe858=)
c.3324C>T (p.Phe1108=)
c.3330C>T (p.Phe1110=)
 dbSNP COSMIC
8g.115414557G>CCA372062945TRPS1c.3351C>G (p.Phe1117Leu)
c.3312C>G (p.Phe1104Leu)
c.685C>G
c.2574C>G (p.Phe858Leu)
c.3324C>G (p.Phe1108Leu)
c.3330C>G (p.Phe1110Leu)
8g.115414557G=CA1812853981TRPS1c.3351C= (p.Phe1117=)
c.3312C= (p.Phe1104=)
c.685C=
c.2574C= (p.Phe858=)
c.3324C= (p.Phe1108=)
c.3330C= (p.Phe1110=)
8g.115414557G>TCA372062946TRPS1c.3351C>A (p.Phe1117Leu)
c.3312C>A (p.Phe1104Leu)
c.685C>A
c.2574C>A (p.Phe858Leu)
c.3324C>A (p.Phe1108Leu)
c.3330C>A (p.Phe1110Leu)
 COSMIC COSMIC
8g.115414558A=CA1812853983TRPS1c.3350T= (p.Phe1117=)
c.3311T= (p.Phe1104=)
c.684T=
c.2573T= (p.Phe858=)
c.3323T= (p.Phe1108=)
c.3329T= (p.Phe1110=)
8g.115414558A>CCA372062947TRPS1c.3350T>G (p.Phe1117Cys)
c.3311T>G (p.Phe1104Cys)
c.684T>G
c.2573T>G (p.Phe858Cys)
c.3323T>G (p.Phe1108Cys)
c.3329T>G (p.Phe1110Cys)
8g.115414558A>GCA372062949TRPS1c.3350T>C (p.Phe1117Ser)
c.3311T>C (p.Phe1104Ser)
c.684T>C
c.2573T>C (p.Phe858Ser)
c.3323T>C (p.Phe1108Ser)
c.3329T>C (p.Phe1110Ser)
 ClinVar dbSNP
8g.115414558A>TCA372062948TRPS1c.3350T>A (p.Phe1117Tyr)
c.3311T>A (p.Phe1104Tyr)
c.684T>A
c.2573T>A (p.Phe858Tyr)
c.3323T>A (p.Phe1108Tyr)
c.3329T>A (p.Phe1110Tyr)
8g.115414559A>CCA372062950TRPS1c.3349T>G (p.Phe1117Val)
c.3310T>G (p.Phe1104Val)
c.683T>G
c.2572T>G (p.Phe858Val)
c.3322T>G (p.Phe1108Val)
c.3328T>G (p.Phe1110Val)
8g.115414559A>GCA372062951TRPS1c.3349T>C (p.Phe1117Leu)
c.3310T>C (p.Phe1104Leu)
c.683T>C
c.2572T>C (p.Phe858Leu)
c.3322T>C (p.Phe1108Leu)
c.3328T>C (p.Phe1110Leu)
8g.115414559A>TCA372062952TRPS1c.3349T>A (p.Phe1117Ile)
c.3310T>A (p.Phe1104Ile)
c.683T>A
c.2572T>A (p.Phe858Ile)
c.3322T>A (p.Phe1108Ile)
c.3328T>A (p.Phe1110Ile)
8g.115414560G>ACA462658259TRPS1c.3348C>T (p.Asp1116=)
c.3309C>T (p.Asp1103=)
c.682C>T
c.2571C>T (p.Asp857=)
c.3321C>T (p.Asp1107=)
c.3327C>T (p.Asp1109=)
8g.115414560G>CCA4851498TRPS1c.3348C>G (p.Asp1116Glu)
c.3309C>G (p.Asp1103Glu)
c.682C>G
c.2571C>G (p.Asp857Glu)
c.3321C>G (p.Asp1107Glu)
c.3327C>G (p.Asp1109Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414560G=CA1812853986TRPS1c.3348C= (p.Asp1116=)
c.3309C= (p.Asp1103=)
c.682C=
c.2571C= (p.Asp857=)
c.3321C= (p.Asp1107=)
c.3327C= (p.Asp1109=)
8g.115414560G>TCA372062953TRPS1c.3348C>A (p.Asp1116Glu)
c.3309C>A (p.Asp1103Glu)
c.682C>A
c.2571C>A (p.Asp857Glu)
c.3321C>A (p.Asp1107Glu)
c.3327C>A (p.Asp1109Glu)
8g.115414561T>ACA372062954TRPS1c.3347A>T (p.Asp1116Val)
c.3308A>T (p.Asp1103Val)
c.681A>T
c.2570A>T (p.Asp857Val)
c.3320A>T (p.Asp1107Val)
c.3326A>T (p.Asp1109Val)
8g.115414561T>CCA372062955TRPS1c.3347A>G (p.Asp1116Gly)
c.3308A>G (p.Asp1103Gly)
c.681A>G
c.2570A>G (p.Asp857Gly)
c.3320A>G (p.Asp1107Gly)
c.3326A>G (p.Asp1109Gly)
 COSMIC COSMIC
8g.115414561T>GCA372062956TRPS1c.3347A>C (p.Asp1116Ala)
c.3308A>C (p.Asp1103Ala)
c.681A>C
c.2570A>C (p.Asp857Ala)
c.3320A>C (p.Asp1107Ala)
c.3326A>C (p.Asp1109Ala)
8g.115414562C>ACA372062957TRPS1c.3346G>T (p.Asp1116Tyr)
c.3307G>T (p.Asp1103Tyr)
c.680G>T
c.2569G>T (p.Asp857Tyr)
c.3319G>T (p.Asp1107Tyr)
c.3325G>T (p.Asp1109Tyr)
8g.115414562C>GCA372062958TRPS1c.3346G>C (p.Asp1116His)
c.3307G>C (p.Asp1103His)
c.680G>C
c.2569G>C (p.Asp857His)
c.3319G>C (p.Asp1107His)
c.3325G>C (p.Asp1109His)
8g.115414562C>TCA372062959TRPS1c.3346G>A (p.Asp1116Asn)
c.3307G>A (p.Asp1103Asn)
c.680G>A
c.2569G>A (p.Asp857Asn)
c.3319G>A (p.Asp1107Asn)
c.3325G>A (p.Asp1109Asn)
8g.115414563A>CCA372062961TRPS1c.3345T>G (p.Asn1115Lys)
c.3306T>G (p.Asn1102Lys)
c.679T>G
c.2568T>G (p.Asn856Lys)
c.3318T>G (p.Asn1106Lys)
c.3324T>G (p.Asn1108Lys)
8g.115414563A>GCA462658264TRPS1c.3345T>C (p.Asn1115=)
c.3306T>C (p.Asn1102=)
c.679T>C
c.2568T>C (p.Asn856=)
c.3318T>C (p.Asn1106=)
c.3324T>C (p.Asn1108=)
 gnomAD v4
8g.115414563A>TCA372062960TRPS1c.3345T>A (p.Asn1115Lys)
c.3306T>A (p.Asn1102Lys)
c.679T>A
c.2568T>A (p.Asn856Lys)
c.3318T>A (p.Asn1106Lys)
c.3324T>A (p.Asn1108Lys)
8g.115414564T>ACA372062962TRPS1c.3344A>T (p.Asn1115Ile)
c.3305A>T (p.Asn1102Ile)
c.678A>T
c.2567A>T (p.Asn856Ile)
c.3317A>T (p.Asn1106Ile)
c.3323A>T (p.Asn1108Ile)
8g.115414564T>CCA372062964TRPS1c.3344A>G (p.Asn1115Ser)
c.3305A>G (p.Asn1102Ser)
c.678A>G
c.2567A>G (p.Asn856Ser)
c.3317A>G (p.Asn1106Ser)
c.3323A>G (p.Asn1108Ser)
8g.115414564T>GCA372062963TRPS1c.3344A>C (p.Asn1115Thr)
c.3305A>C (p.Asn1102Thr)
c.678A>C
c.2567A>C (p.Asn856Thr)
c.3317A>C (p.Asn1106Thr)
c.3323A>C (p.Asn1108Thr)
8g.115414565T>ACA372062965TRPS1c.3343A>T (p.Asn1115Tyr)
c.3304A>T (p.Asn1102Tyr)
c.677A>T
c.2566A>T (p.Asn856Tyr)
c.3316A>T (p.Asn1106Tyr)
c.3322A>T (p.Asn1108Tyr)
8g.115414565T>CCA372062967TRPS1c.3343A>G (p.Asn1115Asp)
c.3304A>G (p.Asn1102Asp)
c.677A>G
c.2566A>G (p.Asn856Asp)
c.3316A>G (p.Asn1106Asp)
c.3322A>G (p.Asn1108Asp)
 dbSNP gnomAD v4
8g.115414565T>GCA372062966TRPS1c.3343A>C (p.Asn1115His)
c.3304A>C (p.Asn1102His)
c.677A>C
c.2566A>C (p.Asn856His)
c.3316A>C (p.Asn1106His)
c.3322A>C (p.Asn1108His)
8g.115414565T=CA1812853988TRPS1c.3343A= (p.Asn1115=)
c.3304A= (p.Asn1102=)
c.677A=
c.2566A= (p.Asn856=)
c.3316A= (p.Asn1106=)
c.3322A= (p.Asn1108=)
8g.115414566A>CCA372062968TRPS1c.3342T>G (p.His1114Gln)
c.3303T>G (p.His1101Gln)
c.676T>G
c.2565T>G (p.His855Gln)
c.3315T>G (p.His1105Gln)
c.3321T>G (p.His1107Gln)
8g.115414566A>GCA462658268TRPS1c.3342T>C (p.His1114=)
c.3303T>C (p.His1101=)
c.676T>C
c.2565T>C (p.His855=)
c.3315T>C (p.His1105=)
c.3321T>C (p.His1107=)
8g.115414566A>TCA372062969TRPS1c.3342T>A (p.His1114Gln)
c.3303T>A (p.His1101Gln)
c.676T>A
c.2565T>A (p.His855Gln)
c.3315T>A (p.His1105Gln)
c.3321T>A (p.His1107Gln)
8g.115414567T>ACA372062970TRPS1c.3341A>T (p.His1114Leu)
c.3302A>T (p.His1101Leu)
c.675A>T
c.2564A>T (p.His855Leu)
c.3314A>T (p.His1105Leu)
c.3320A>T (p.His1107Leu)
8g.115414567T>CCA4851499TRPS1c.3341A>G (p.His1114Arg)
c.3302A>G (p.His1101Arg)
c.675A>G
c.2564A>G (p.His855Arg)
c.3314A>G (p.His1105Arg)
c.3320A>G (p.His1107Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414567T>GCA372062971TRPS1c.3341A>C (p.His1114Pro)
c.3302A>C (p.His1101Pro)
c.675A>C
c.2564A>C (p.His855Pro)
c.3314A>C (p.His1105Pro)
c.3320A>C (p.His1107Pro)
8g.115414567T=CA1812853990TRPS1c.3341A= (p.His1114=)
c.3302A= (p.His1101=)
c.675A=
c.2564A= (p.His855=)
c.3314A= (p.His1105=)
c.3320A= (p.His1107=)
8g.115414568G>ACA372062972TRPS1c.3340C>T (p.His1114Tyr)
c.3301C>T (p.His1101Tyr)
c.674C>T
c.2563C>T (p.His855Tyr)
c.3313C>T (p.His1105Tyr)
c.3319C>T (p.His1107Tyr)
 dbSNP
8g.115414568G>CCA372062973TRPS1c.3340C>G (p.His1114Asp)
c.3301C>G (p.His1101Asp)
c.674C>G
c.2563C>G (p.His855Asp)
c.3313C>G (p.His1105Asp)
c.3319C>G (p.His1107Asp)
8g.115414568G=CA1812853993TRPS1c.3340C= (p.His1114=)
c.3301C= (p.His1101=)
c.674C=
c.2563C= (p.His855=)
c.3313C= (p.His1105=)
c.3319C= (p.His1107=)
8g.115414568G>TCA372062974TRPS1c.3340C>A (p.His1114Asn)
c.3301C>A (p.His1101Asn)
c.674C>A
c.2563C>A (p.His855Asn)
c.3313C>A (p.His1105Asn)
c.3319C>A (p.His1107Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.115414569T>ACA462658269TRPS1c.3339A>T (p.Val1113=)
c.3300A>T (p.Val1100=)
c.673A>T
c.2562A>T (p.Val854=)
c.3312A>T (p.Val1104=)
c.3318A>T (p.Val1106=)
8g.115414569T>CCA462658270TRPS1c.3339A>G (p.Val1113=)
c.3300A>G (p.Val1100=)
c.673A>G
c.2562A>G (p.Val854=)
c.3312A>G (p.Val1104=)
c.3318A>G (p.Val1106=)
 gnomAD v4
8g.115414569T>GCA462658271TRPS1c.3339A>C (p.Val1113=)
c.3300A>C (p.Val1100=)
c.673A>C
c.2562A>C (p.Val854=)
c.3312A>C (p.Val1104=)
c.3318A>C (p.Val1106=)
8g.115414570A>CCA372062975TRPS1c.3338T>G (p.Val1113Gly)
c.3299T>G (p.Val1100Gly)
c.672T>G
c.2561T>G (p.Val854Gly)
c.3311T>G (p.Val1104Gly)
c.3317T>G (p.Val1106Gly)
8g.115414570A>GCA372062976TRPS1c.3338T>C (p.Val1113Ala)
c.3299T>C (p.Val1100Ala)
c.672T>C
c.2561T>C (p.Val854Ala)
c.3311T>C (p.Val1104Ala)
c.3317T>C (p.Val1106Ala)
 gnomAD v4
8g.115414570A>TCA372062977TRPS1c.3338T>A (p.Val1113Glu)
c.3299T>A (p.Val1100Glu)
c.672T>A
c.2561T>A (p.Val854Glu)
c.3311T>A (p.Val1104Glu)
c.3317T>A (p.Val1106Glu)
8g.115414571C>ACA372062978TRPS1c.3337G>T (p.Val1113Leu)
c.3298G>T (p.Val1100Leu)
c.671G>T
c.2560G>T (p.Val854Leu)
c.3310G>T (p.Val1104Leu)
c.3316G>T (p.Val1106Leu)
8g.115414571C=CA1812853996TRPS1c.3337G= (p.Val1113=)
c.3298G= (p.Val1100=)
c.671G=
c.2560G= (p.Val854=)
c.3310G= (p.Val1104=)
c.3316G= (p.Val1106=)
8g.115414571C>GCA372062979TRPS1c.3337G>C (p.Val1113Leu)
c.3298G>C (p.Val1100Leu)
c.671G>C
c.2560G>C (p.Val854Leu)
c.3310G>C (p.Val1104Leu)
c.3316G>C (p.Val1106Leu)
8g.115414571C>TCA4851500TRPS1c.3337G>A (p.Val1113Ile)
c.3298G>A (p.Val1100Ile)
c.671G>A
c.2560G>A (p.Val854Ile)
c.3310G>A (p.Val1104Ile)
c.3316G>A (p.Val1106Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414572A>CCA372062980TRPS1c.3336T>G (p.Phe1112Leu)
c.3297T>G (p.Phe1099Leu)
c.670T>G
c.2559T>G (p.Phe853Leu)
c.3309T>G (p.Phe1103Leu)
c.3315T>G (p.Phe1105Leu)
8g.115414572A>GCA462658273TRPS1c.3336T>C (p.Phe1112=)
c.3297T>C (p.Phe1099=)
c.670T>C
c.2559T>C (p.Phe853=)
c.3309T>C (p.Phe1103=)
c.3315T>C (p.Phe1105=)
8g.115414572A>TCA372062981TRPS1c.3336T>A (p.Phe1112Leu)
c.3297T>A (p.Phe1099Leu)
c.670T>A
c.2559T>A (p.Phe853Leu)
c.3309T>A (p.Phe1103Leu)
c.3315T>A (p.Phe1105Leu)
8g.115414573A>CCA372062982TRPS1c.3335T>G (p.Phe1112Cys)
c.3296T>G (p.Phe1099Cys)
c.669T>G
c.2558T>G (p.Phe853Cys)
c.3308T>G (p.Phe1103Cys)
c.3314T>G (p.Phe1105Cys)
8g.115414573A>GCA372062983TRPS1c.3335T>C (p.Phe1112Ser)
c.3296T>C (p.Phe1099Ser)
c.669T>C
c.2558T>C (p.Phe853Ser)
c.3308T>C (p.Phe1103Ser)
c.3314T>C (p.Phe1105Ser)
8g.115414573A>TCA372062984TRPS1c.3335T>A (p.Phe1112Tyr)
c.3296T>A (p.Phe1099Tyr)
c.669T>A
c.2558T>A (p.Phe853Tyr)
c.3308T>A (p.Phe1103Tyr)
c.3314T>A (p.Phe1105Tyr)
8g.115414574A=CA1812853999TRPS1c.3334T= (p.Phe1112=)
c.3295T= (p.Phe1099=)
c.668T=
c.2557T= (p.Phe853=)
c.3307T= (p.Phe1103=)
c.3313T= (p.Phe1105=)
8g.115414574A>CCA372062985TRPS1c.3334T>G (p.Phe1112Val)
c.3295T>G (p.Phe1099Val)
c.668T>G
c.2557T>G (p.Phe853Val)
c.3307T>G (p.Phe1103Val)
c.3313T>G (p.Phe1105Val)
 gnomAD v4
8g.115414574A>GCA4851501TRPS1c.3334T>C (p.Phe1112Leu)
c.3295T>C (p.Phe1099Leu)
c.668T>C
c.2557T>C (p.Phe853Leu)
c.3307T>C (p.Phe1103Leu)
c.3313T>C (p.Phe1105Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414574A>TCA372062986TRPS1c.3334T>A (p.Phe1112Ile)
c.3295T>A (p.Phe1099Ile)
c.668T>A
c.2557T>A (p.Phe853Ile)
c.3307T>A (p.Phe1103Ile)
c.3313T>A (p.Phe1105Ile)
8g.115414575G>ACA4851503TRPS1c.3333C>T (p.Pro1111=)
c.3294C>T (p.Pro1098=)
c.667C>T
c.2556C>T (p.Pro852=)
c.3306C>T (p.Pro1102=)
c.3312C>T (p.Pro1104=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.115414575G>CCA4851502TRPS1c.3333C>G (p.Pro1111=)
c.3294C>G (p.Pro1098=)
c.667C>G
c.2556C>G (p.Pro852=)
c.3306C>G (p.Pro1102=)
c.3312C>G (p.Pro1104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.115414575G=CA1812854003TRPS1c.3333C= (p.Pro1111=)
c.3294C= (p.Pro1098=)
c.667C=
c.2556C= (p.Pro852=)
c.3306C= (p.Pro1102=)
c.3312C= (p.Pro1104=)
8g.115414575G>TCA462658275TRPS1c.3333C>A (p.Pro1111=)
c.3294C>A (p.Pro1098=)
c.667C>A
c.2556C>A (p.Pro852=)
c.3306C>A (p.Pro1102=)
c.3312C>A (p.Pro1104=)
8g.115414577delCA645561863TRPS1c.3333del (p.Phe1112LeufsTer?)
c.3294del (p.Phe1099LeufsTer?)
c.667del
c.2556del (p.Phe853LeufsTer?)
c.3306del (p.Phe1103LeufsTer?)
c.3312del (p.Phe1105LeufsTer?)
 COSMIC COSMIC
8g.115414576G>ACA372062987TRPS1c.3332C>T (p.Pro1111Leu)
c.3293C>T (p.Pro1098Leu)
c.666C>T
c.2555C>T (p.Pro852Leu)
c.3305C>T (p.Pro1102Leu)
c.3311C>T (p.Pro1104Leu)
8g.115414576G>CCA372062988TRPS1c.3332C>G (p.Pro1111Arg)
c.3293C>G (p.Pro1098Arg)
c.666C>G
c.2555C>G (p.Pro852Arg)
c.3305C>G (p.Pro1102Arg)
c.3311C>G (p.Pro1104Arg)
8g.115414576G>TCA372062989TRPS1c.3332C>A (p.Pro1111His)
c.3293C>A (p.Pro1098His)
c.666C>A
c.2555C>A (p.Pro852His)
c.3305C>A (p.Pro1102His)
c.3311C>A (p.Pro1104His)
 COSMIC COSMIC
8g.115414577G>ACA372062991TRPS1c.3331C>T (p.Pro1111Ser)
c.3292C>T (p.Pro1098Ser)
c.665C>T
c.2554C>T (p.Pro852Ser)
c.3304C>T (p.Pro1102Ser)
c.3310C>T (p.Pro1104Ser)
8g.115414577G>CCA372062992TRPS1c.3331C>G (p.Pro1111Ala)
c.3292C>G (p.Pro1098Ala)
c.665C>G
c.2554C>G (p.Pro852Ala)
c.3304C>G (p.Pro1102Ala)
c.3310C>G (p.Pro1104Ala)
8g.115414577G>TCA372062990TRPS1c.3331C>A (p.Pro1111Thr)
c.3292C>A (p.Pro1098Thr)
c.665C>A
c.2554C>A (p.Pro852Thr)
c.3304C>A (p.Pro1102Thr)
c.3310C>A (p.Pro1104Thr)
8g.115414578A>CCA462658277TRPS1c.3330T>G (p.Leu1110=)
c.3291T>G (p.Leu1097=)
c.664T>G
c.2553T>G (p.Leu851=)
c.3303T>G (p.Leu1101=)
c.3309T>G (p.Leu1103=)
8g.115414578A>GCA462658278TRPS1c.3330T>C (p.Leu1110=)
c.3291T>C (p.Leu1097=)
c.664T>C
c.2553T>C (p.Leu851=)
c.3303T>C (p.Leu1101=)
c.3309T>C (p.Leu1103=)
8g.115414578A>TCA462658280TRPS1c.3330T>A (p.Leu1110=)
c.3291T>A (p.Leu1097=)
c.664T>A
c.2553T>A (p.Leu851=)
c.3303T>A (p.Leu1101=)
c.3309T>A (p.Leu1103=)
 gnomAD v4
8g.115414579A>CCA372062993TRPS1c.3329T>G (p.Leu1110Arg)
c.3290T>G (p.Leu1097Arg)
c.663T>G
c.2552T>G (p.Leu851Arg)
c.3302T>G (p.Leu1101Arg)
c.3308T>G (p.Leu1103Arg)
8g.115414579A>GCA372062994TRPS1c.3329T>C (p.Leu1110Pro)
c.3290T>C (p.Leu1097Pro)
c.663T>C
c.2552T>C (p.Leu851Pro)
c.3302T>C (p.Leu1101Pro)
c.3308T>C (p.Leu1103Pro)
8g.115414579A>TCA372062995TRPS1c.3329T>A (p.Leu1110His)
c.3290T>A (p.Leu1097His)
c.663T>A
c.2552T>A (p.Leu851His)
c.3302T>A (p.Leu1101His)
c.3308T>A (p.Leu1103His)
8g.115414580G>ACA4851504TRPS1c.3328C>T (p.Leu1110Phe)
c.3289C>T (p.Leu1097Phe)
c.662C>T
c.2551C>T (p.Leu851Phe)
c.3301C>T (p.Leu1101Phe)
c.3307C>T (p.Leu1103Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414580G>CCA372062996TRPS1c.3328C>G (p.Leu1110Val)
c.3289C>G (p.Leu1097Val)
c.662C>G
c.2551C>G (p.Leu851Val)
c.3301C>G (p.Leu1101Val)
c.3307C>G (p.Leu1103Val)
8g.115414580G=CA1812854008TRPS1c.3328C= (p.Leu1110=)
c.3289C= (p.Leu1097=)
c.662C=
c.2551C= (p.Leu851=)
c.3301C= (p.Leu1101=)
c.3307C= (p.Leu1103=)
8g.115414580G>TCA372062997TRPS1c.3328C>A (p.Leu1110Ile)
c.3289C>A (p.Leu1097Ile)
c.662C>A
c.2551C>A (p.Leu851Ile)
c.3301C>A (p.Leu1101Ile)
c.3307C>A (p.Leu1103Ile)
8g.115414581T>ACA462658283TRPS1c.3327A>T (p.Gly1109=)
c.3288A>T (p.Gly1096=)
c.661A>T
c.2550A>T (p.Gly850=)
c.3300A>T (p.Gly1100=)
c.3306A>T (p.Gly1102=)
8g.115414581T>CCA462658281TRPS1c.3327A>G (p.Gly1109=)
c.3288A>G (p.Gly1096=)
c.661A>G
c.2550A>G (p.Gly850=)
c.3300A>G (p.Gly1100=)
c.3306A>G (p.Gly1102=)
 dbSNP gnomAD v4
8g.115414581T>GCA462658284TRPS1c.3327A>C (p.Gly1109=)
c.3288A>C (p.Gly1096=)
c.661A>C
c.2550A>C (p.Gly850=)
c.3300A>C (p.Gly1100=)
c.3306A>C (p.Gly1102=)
8g.115414581T=CA1812854011TRPS1c.3327A= (p.Gly1109=)
c.3288A= (p.Gly1096=)
c.661A=
c.2550A= (p.Gly850=)
c.3300A= (p.Gly1100=)
c.3306A= (p.Gly1102=)
8g.115414582C>ACA372062998TRPS1c.3326G>T (p.Gly1109Val)
c.3287G>T (p.Gly1096Val)
c.660G>T
c.2549G>T (p.Gly850Val)
c.3299G>T (p.Gly1100Val)
c.3305G>T (p.Gly1102Val)
8g.115414582C>GCA372062999TRPS1c.3326G>C (p.Gly1109Ala)
c.3287G>C (p.Gly1096Ala)
c.660G>C
c.2549G>C (p.Gly850Ala)
c.3299G>C (p.Gly1100Ala)
c.3305G>C (p.Gly1102Ala)
8g.115414582C>TCA372063000TRPS1c.3326G>A (p.Gly1109Glu)
c.3287G>A (p.Gly1096Glu)
c.660G>A
c.2549G>A (p.Gly850Glu)
c.3299G>A (p.Gly1100Glu)
c.3305G>A (p.Gly1102Glu)
8g.115414583C>ACA372063001TRPS1c.3325G>T (p.Gly1109Ter)
c.3286G>T (p.Gly1096Ter)
c.659G>T
c.2548G>T (p.Gly850Ter)
c.3298G>T (p.Gly1100Ter)
c.3304G>T (p.Gly1102Ter)
8g.115414583C>GCA372063002TRPS1c.3325G>C (p.Gly1109Arg)
c.3286G>C (p.Gly1096Arg)
c.659G>C
c.2548G>C (p.Gly850Arg)
c.3298G>C (p.Gly1100Arg)
c.3304G>C (p.Gly1102Arg)
8g.115414583C>TCA372063003TRPS1c.3325G>A (p.Gly1109Arg)
c.3286G>A (p.Gly1096Arg)
c.659G>A
c.2548G>A (p.Gly850Arg)
c.3298G>A (p.Gly1100Arg)
c.3304G>A (p.Gly1102Arg)
8g.115414584A>CCA372063005TRPS1c.3324T>G (p.Phe1108Leu)
c.3285T>G (p.Phe1095Leu)
c.658T>G
c.2547T>G (p.Phe849Leu)
c.3297T>G (p.Phe1099Leu)
c.3303T>G (p.Phe1101Leu)
8g.115414584A>GCA462658287TRPS1c.3324T>C (p.Phe1108=)
c.3285T>C (p.Phe1095=)
c.658T>C
c.2547T>C (p.Phe849=)
c.3297T>C (p.Phe1099=)
c.3303T>C (p.Phe1101=)
8g.115414584A>TCA372063004TRPS1c.3324T>A (p.Phe1108Leu)
c.3285T>A (p.Phe1095Leu)
c.658T>A
c.2547T>A (p.Phe849Leu)
c.3297T>A (p.Phe1099Leu)
c.3303T>A (p.Phe1101Leu)
8g.115414585A=CA1812854013TRPS1c.3323T= (p.Phe1108=)
c.3284T= (p.Phe1095=)
c.657T=
c.2546T= (p.Phe849=)
c.3296T= (p.Phe1099=)
c.3302T= (p.Phe1101=)
8g.115414585A>CCA372063006TRPS1c.3323T>G (p.Phe1108Cys)
c.3284T>G (p.Phe1095Cys)
c.657T>G
c.2546T>G (p.Phe849Cys)
c.3296T>G (p.Phe1099Cys)
c.3302T>G (p.Phe1101Cys)
 dbSNP
8g.115414585A>GCA372063007TRPS1c.3323T>C (p.Phe1108Ser)
c.3284T>C (p.Phe1095Ser)
c.657T>C
c.2546T>C (p.Phe849Ser)
c.3296T>C (p.Phe1099Ser)
c.3302T>C (p.Phe1101Ser)
8g.115414585A>TCA372063008TRPS1c.3323T>A (p.Phe1108Tyr)
c.3284T>A (p.Phe1095Tyr)
c.657T>A
c.2546T>A (p.Phe849Tyr)
c.3296T>A (p.Phe1099Tyr)
c.3302T>A (p.Phe1101Tyr)
8g.115414586A=CA1812854015TRPS1c.3322T= (p.Phe1108=)
c.3283T= (p.Phe1095=)
c.656T=
c.2545T= (p.Phe849=)
c.3295T= (p.Phe1099=)
c.3301T= (p.Phe1101=)
8g.115414586A>CCA372063009TRPS1c.3322T>G (p.Phe1108Val)
c.3283T>G (p.Phe1095Val)
c.656T>G
c.2545T>G (p.Phe849Val)
c.3295T>G (p.Phe1099Val)
c.3301T>G (p.Phe1101Val)
8g.115414586A>GCA372063010TRPS1c.3322T>C (p.Phe1108Leu)
c.3283T>C (p.Phe1095Leu)
c.656T>C
c.2545T>C (p.Phe849Leu)
c.3295T>C (p.Phe1099Leu)
c.3301T>C (p.Phe1101Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.115414586A>TCA372063011TRPS1c.3322T>A (p.Phe1108Ile)
c.3283T>A (p.Phe1095Ile)
c.656T>A
c.2545T>A (p.Phe849Ile)
c.3295T>A (p.Phe1099Ile)
c.3301T>A (p.Phe1101Ile)
8g.115414587A>CCA462658294TRPS1c.3321T>G (p.Leu1107=)
c.3282T>G (p.Leu1094=)
c.655T>G
c.2544T>G (p.Leu848=)
c.3294T>G (p.Leu1098=)
c.3300T>G (p.Leu1100=)
8g.115414587A>GCA462658290TRPS1c.3321T>C (p.Leu1107=)
c.3282T>C (p.Leu1094=)
c.655T>C
c.2544T>C (p.Leu848=)
c.3294T>C (p.Leu1098=)
c.3300T>C (p.Leu1100=)
8g.115414587A>TCA462658292TRPS1c.3321T>A (p.Leu1107=)
c.3282T>A (p.Leu1094=)
c.655T>A
c.2544T>A (p.Leu848=)
c.3294T>A (p.Leu1098=)
c.3300T>A (p.Leu1100=)
8g.115414588A>CCA372063012TRPS1c.3320T>G (p.Leu1107Arg)
c.3281T>G (p.Leu1094Arg)
c.654T>G
c.2543T>G (p.Leu848Arg)
c.3293T>G (p.Leu1098Arg)
c.3299T>G (p.Leu1100Arg)
8g.115414588A>GCA372063013TRPS1c.3320T>C (p.Leu1107Pro)
c.3281T>C (p.Leu1094Pro)
c.654T>C
c.2543T>C (p.Leu848Pro)
c.3293T>C (p.Leu1098Pro)
c.3299T>C (p.Leu1100Pro)
8g.115414588A>TCA372063014TRPS1c.3320T>A (p.Leu1107His)
c.3281T>A (p.Leu1094His)
c.654T>A
c.2543T>A (p.Leu848His)
c.3293T>A (p.Leu1098His)
c.3299T>A (p.Leu1100His)
8g.115414588_115414589delinsAGCA1812854018TRPS1c.3319_3320delinsCT (p.Leu1107=)
c.3280_3281delinsCT (p.Leu1094=)
c.653_654delinsCT
c.2542_2543delinsCT (p.Leu848=)
c.3292_3293delinsCT (p.Leu1098=)
c.3298_3299delinsCT (p.Leu1100=)
8g.115414589delCA10604328TRPS1c.3319del (p.Leu1107PhefsTer?)
c.3280del (p.Leu1094PhefsTer?)
c.653del
c.2542del (p.Leu848PhefsTer?)
c.3292del (p.Leu1098PhefsTer?)
c.3298del (p.Leu1100PhefsTer?)
 ClinVar dbSNP
8g.115414589G>ACA372063015TRPS1c.3319C>T (p.Leu1107Phe)
c.3280C>T (p.Leu1094Phe)
c.653C>T
c.2542C>T (p.Leu848Phe)
c.3292C>T (p.Leu1098Phe)
c.3298C>T (p.Leu1100Phe)
8g.115414589G>CCA372063016TRPS1c.3319C>G (p.Leu1107Val)
c.3280C>G (p.Leu1094Val)
c.653C>G
c.2542C>G (p.Leu848Val)
c.3292C>G (p.Leu1098Val)
c.3298C>G (p.Leu1100Val)
8g.115414589G>TCA372063017TRPS1c.3319C>A (p.Leu1107Ile)
c.3280C>A (p.Leu1094Ile)
c.653C>A
c.2542C>A (p.Leu848Ile)
c.3292C>A (p.Leu1098Ile)
c.3298C>A (p.Leu1100Ile)
8g.115414590T>ACA462658298TRPS1c.3318A>T (p.Pro1106=)
c.3279A>T (p.Pro1093=)
c.652A>T
c.2541A>T (p.Pro847=)
c.3291A>T (p.Pro1097=)
c.3297A>T (p.Pro1099=)
8g.115414590T>CCA462658299TRPS1c.3318A>G (p.Pro1106=)
c.3279A>G (p.Pro1093=)
c.652A>G
c.2541A>G (p.Pro847=)
c.3291A>G (p.Pro1097=)
c.3297A>G (p.Pro1099=)
8g.115414590T>GCA462658300TRPS1c.3318A>C (p.Pro1106=)
c.3279A>C (p.Pro1093=)
c.652A>C
c.2541A>C (p.Pro847=)
c.3291A>C (p.Pro1097=)
c.3297A>C (p.Pro1099=)
8g.115414591G>ACA372063020TRPS1c.3317C>T (p.Pro1106Leu)
c.3278C>T (p.Pro1093Leu)
c.651C>T
c.2540C>T (p.Pro847Leu)
c.3290C>T (p.Pro1097Leu)
c.3296C>T (p.Pro1099Leu)
8g.115414591G>CCA372063019TRPS1c.3317C>G (p.Pro1106Arg)
c.3278C>G (p.Pro1093Arg)
c.651C>G
c.2540C>G (p.Pro847Arg)
c.3290C>G (p.Pro1097Arg)
c.3296C>G (p.Pro1099Arg)
8g.115414591G>TCA372063018TRPS1c.3317C>A (p.Pro1106Gln)
c.3278C>A (p.Pro1093Gln)
c.651C>A
c.2540C>A (p.Pro847Gln)
c.3290C>A (p.Pro1097Gln)
c.3296C>A (p.Pro1099Gln)
 ClinVar dbSNP
8g.115414592G>ACA372063021TRPS1c.3316C>T (p.Pro1106Ser)
c.3277C>T (p.Pro1093Ser)
c.650C>T
c.2539C>T (p.Pro847Ser)
c.3289C>T (p.Pro1097Ser)
c.3295C>T (p.Pro1099Ser)
 gnomAD v4 COSMIC COSMIC
8g.115414592G>CCA372063022TRPS1c.3316C>G (p.Pro1106Ala)
c.3277C>G (p.Pro1093Ala)
c.650C>G
c.2539C>G (p.Pro847Ala)
c.3289C>G (p.Pro1097Ala)
c.3295C>G (p.Pro1099Ala)
8g.115414592G>TCA372063023TRPS1c.3316C>A (p.Pro1106Thr)
c.3277C>A (p.Pro1093Thr)
c.650C>A
c.2539C>A (p.Pro847Thr)
c.3289C>A (p.Pro1097Thr)
c.3295C>A (p.Pro1099Thr)
 gnomAD v4
8g.115414592_115414593insTGAAGCA2695210273TRPS1c.3316_3317insTTCAC (p.Pro1106LeufsTer?)
c.3277_3278insTTCAC (p.Pro1093LeufsTer?)
c.650_651insTTCAC
c.2539_2540insTTCAC (p.Pro847LeufsTer?)
c.3289_3290insTTCAC (p.Pro1097LeufsTer?)
c.3295_3296insTTCAC (p.Pro1099LeufsTer?)
8g.115414593G>ACA462658302TRPS1c.3315C>T (p.Tyr1105=)
c.3276C>T (p.Tyr1092=)
c.649C>T
c.2538C>T (p.Tyr846=)
c.3288C>T (p.Tyr1096=)
c.3294C>T (p.Tyr1098=)
 gnomAD v4
8g.115414593G>CCA117612TRPS1c.3315C>G (p.Tyr1105Ter)
c.3276C>G (p.Tyr1092Ter)
c.649C>G
c.2538C>G (p.Tyr846Ter)
c.3288C>G (p.Tyr1096Ter)
c.3294C>G (p.Tyr1098Ter)
 ClinVar dbSNP
8g.115414593G=CA1812854033TRPS1c.3315C= (p.Tyr1105=)
c.3276C= (p.Tyr1092=)
c.649C=
c.2538C= (p.Tyr846=)
c.3288C= (p.Tyr1096=)
c.3294C= (p.Tyr1098=)
8g.115414593G>TCA372063024TRPS1c.3315C>A (p.Tyr1105Ter)
c.3276C>A (p.Tyr1092Ter)
c.649C>A
c.2538C>A (p.Tyr846Ter)
c.3288C>A (p.Tyr1096Ter)
c.3294C>A (p.Tyr1098Ter)
8g.115414594T>ACA372063025TRPS1c.3314A>T (p.Tyr1105Phe)
c.3275A>T (p.Tyr1092Phe)
c.648A>T
c.2537A>T (p.Tyr846Phe)
c.3287A>T (p.Tyr1096Phe)
c.3293A>T (p.Tyr1098Phe)
8g.115414594T>CCA372063026TRPS1c.3314A>G (p.Tyr1105Cys)
c.3275A>G (p.Tyr1092Cys)
c.648A>G
c.2537A>G (p.Tyr846Cys)
c.3287A>G (p.Tyr1096Cys)
c.3293A>G (p.Tyr1098Cys)
 gnomAD v4 COSMIC COSMIC
8g.115414594T>GCA372063027TRPS1c.3314A>C (p.Tyr1105Ser)
c.3275A>C (p.Tyr1092Ser)
c.648A>C
c.2537A>C (p.Tyr846Ser)
c.3287A>C (p.Tyr1096Ser)
c.3293A>C (p.Tyr1098Ser)
8g.115414595A>CCA372063028TRPS1c.3313T>G (p.Tyr1105Asp)
c.3274T>G (p.Tyr1092Asp)
c.647T>G
c.2536T>G (p.Tyr846Asp)
c.3286T>G (p.Tyr1096Asp)
c.3292T>G (p.Tyr1098Asp)
8g.115414595A>GCA372063029TRPS1c.3313T>C (p.Tyr1105His)
c.3274T>C (p.Tyr1092His)
c.647T>C
c.2536T>C (p.Tyr846His)
c.3286T>C (p.Tyr1096His)
c.3292T>C (p.Tyr1098His)
8g.115414595A>TCA372063030TRPS1c.3313T>A (p.Tyr1105Asn)
c.3274T>A (p.Tyr1092Asn)
c.647T>A
c.2536T>A (p.Tyr846Asn)
c.3286T>A (p.Tyr1096Asn)
c.3292T>A (p.Tyr1098Asn)
8g.115414596C>ACA372063031TRPS1c.3312G>T (p.Gln1104His)
c.3273G>T (p.Gln1091His)
c.646G>T
c.2535G>T (p.Gln845His)
c.3285G>T (p.Gln1095His)
c.3291G>T (p.Gln1097His)
8g.115414596C=CA1812854037TRPS1c.3312G= (p.Gln1104=)
c.3273G= (p.Gln1091=)
c.646G=
c.2535G= (p.Gln845=)
c.3285G= (p.Gln1095=)
c.3291G= (p.Gln1097=)
8g.115414596C>GCA4851505TRPS1c.3312G>C (p.Gln1104His)
c.3273G>C (p.Gln1091His)
c.646G>C
c.2535G>C (p.Gln845His)
c.3285G>C (p.Gln1095His)
c.3291G>C (p.Gln1097His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.115414596C>TCA462658305TRPS1c.3312G>A (p.Gln1104=)
c.3273G>A (p.Gln1091=)
c.646G>A
c.2535G>A (p.Gln845=)
c.3285G>A (p.Gln1095=)
c.3291G>A (p.Gln1097=)
 COSMIC COSMIC
8g.115414597T>ACA372063034TRPS1c.3311A>T (p.Gln1104Leu)
c.3272A>T (p.Gln1091Leu)
c.645A>T
c.2534A>T (p.Gln845Leu)
c.3284A>T (p.Gln1095Leu)
c.3290A>T (p.Gln1097Leu)
8g.115414597T>CCA372063033TRPS1c.3311A>G (p.Gln1104Arg)
c.3272A>G (p.Gln1091Arg)
c.645A>G
c.2534A>G (p.Gln845Arg)
c.3284A>G (p.Gln1095Arg)
c.3290A>G (p.Gln1097Arg)
 gnomAD v4
8g.115414597T>GCA372063032TRPS1c.3311A>C (p.Gln1104Pro)
c.3272A>C (p.Gln1091Pro)
c.645A>C
c.2534A>C (p.Gln845Pro)
c.3284A>C (p.Gln1095Pro)
c.3290A>C (p.Gln1097Pro)
8g.115414598G>ACA372063035TRPS1c.3310C>T (p.Gln1104Ter)
c.3271C>T (p.Gln1091Ter)
c.644C>T
c.2533C>T (p.Gln845Ter)
c.3283C>T (p.Gln1095Ter)
c.3289C>T (p.Gln1097Ter)
 COSMIC COSMIC
8g.115414598G>CCA372063036TRPS1c.3310C>G (p.Gln1104Glu)
c.3271C>G (p.Gln1091Glu)
c.644C>G
c.2533C>G (p.Gln845Glu)
c.3283C>G (p.Gln1095Glu)
c.3289C>G (p.Gln1097Glu)
8g.115414598G>TCA372063037TRPS1c.3310C>A (p.Gln1104Lys)
c.3271C>A (p.Gln1091Lys)
c.644C>A
c.2533C>A (p.Gln845Lys)
c.3283C>A (p.Gln1095Lys)
c.3289C>A (p.Gln1097Lys)
8g.115414599G>ACA462658307TRPS1c.3309C>T (p.Tyr1103=)
c.3270C>T (p.Tyr1090=)
c.643C>T
c.2532C>T (p.Tyr844=)
c.3282C>T (p.Tyr1094=)
c.3288C>T (p.Tyr1096=)
8g.115414599G>CCA372063038TRPS1c.3309C>G (p.Tyr1103Ter)
c.3270C>G (p.Tyr1090Ter)
c.643C>G
c.2532C>G (p.Tyr844Ter)
c.3282C>G (p.Tyr1094Ter)
c.3288C>G (p.Tyr1096Ter)
8g.115414599G>TCA372063039TRPS1c.3309C>A (p.Tyr1103Ter)
c.3270C>A (p.Tyr1090Ter)
c.643C>A
c.2532C>A (p.Tyr844Ter)
c.3282C>A (p.Tyr1094Ter)
c.3288C>A (p.Tyr1096Ter)

Number of alleles fetched