Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.115414089_115416214del | CA2573332827 | TRPS1 | c.2824-1128_3821del c.2785-1128_3782del c.2047-1128_3044del c.2797-1128_3794del c.2803-1128_3800del | |
8 | g.115414502C>A | CA372062819 | TRPS1 | c.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) | |
8 | g.115414502C= | CA1812853924 | TRPS1 | c.3406G= (p.Gly1136=) c.3367G= (p.Gly1123=) c.740G= c.2629G= (p.Gly877=) c.3379G= (p.Gly1127=) c.3385G= (p.Gly1129=) | |
8 | g.115414502C>G | CA372062820 | TRPS1 | c.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) | |
8 | g.115414502C>T | CA372062821 | TRPS1 | c.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 |
8 | g.115414503A>C | CA462658202 | TRPS1 | c.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=) | |
8 | g.115414503A>G | CA462658204 | TRPS1 | c.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=) | |
8 | g.115414503A>T | CA462658203 | TRPS1 | c.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=) | |
8 | g.115414504G>A | CA372062822 | TRPS1 | c.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) | |
8 | g.115414504G>C | CA372062823 | TRPS1 | c.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) | |
8 | g.115414504G>T | CA372062824 | TRPS1 | c.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) | |
8 | g.115414505G>A | CA372062825 | TRPS1 | c.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) | |
8 | g.115414505G>C | CA372062826 | TRPS1 | c.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 |
8 | g.115414505G>T | CA372062827 | TRPS1 | c.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) | |
8 | g.115414506A= | CA1812853926 | TRPS1 | c.3402T= (p.Val1134=) c.3363T= (p.Val1121=) c.736T= c.2625T= (p.Val875=) c.3375T= (p.Val1125=) c.3381T= (p.Val1127=) | |
8 | g.115414506A>C | CA462658207 | TRPS1 | c.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=) | |
8 | g.115414506A>G | CA462658209 | TRPS1 | c.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=) | |
8 | g.115414506A>T | CA462658210 | TRPS1 | c.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 |
8 | g.115414507A>C | CA372062830 | TRPS1 | c.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) | |
8 | g.115414507A>G | CA372062829 | TRPS1 | c.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 |
8 | g.115414507A>T | CA372062828 | TRPS1 | c.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) | |
8 | g.115414508C>A | CA4851491 | TRPS1 | c.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 |
8 | g.115414508C= | CA1812853928 | TRPS1 | c.3400G= (p.Val1134=) c.3361G= (p.Val1121=) c.734G= c.2623G= (p.Val875=) c.3373G= (p.Val1125=) c.3379G= (p.Val1127=) | |
8 | g.115414508C>G | CA372062831 | TRPS1 | c.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) | |
8 | g.115414508C>T | CA4851490 | TRPS1 | c.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 |
8 | g.115414508_115414509insCTCC | CA2580078544 | TRPS1 | c.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 |
8 | g.115414509G>A | CA4851492 | TRPS1 | c.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 |
8 | g.115414509G>C | CA462658211 | TRPS1 | c.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 |
8 | g.115414509G= | CA1812853934 | TRPS1 | c.3399C= (p.Ser1133=) c.3360C= (p.Ser1120=) c.733C= c.2622C= (p.Ser874=) c.3372C= (p.Ser1124=) c.3378C= (p.Ser1126=) | |
8 | g.115414509G>T | CA462658212 | TRPS1 | c.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=) | |
8 | g.115414510G>A | CA372062832 | TRPS1 | c.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) | |
8 | g.115414510G>C | CA372062833 | TRPS1 | c.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 |
8 | g.115414510G>T | CA372062834 | TRPS1 | c.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) | |
8 | g.115414511A>C | CA372062835 | TRPS1 | c.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) | |
8 | g.115414511A>G | CA372062836 | TRPS1 | c.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) | |
8 | g.115414511A>T | CA372062837 | TRPS1 | c.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) | |
8 | g.115414512G>A | CA462658213 | TRPS1 | c.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=) | |
8 | g.115414512G>C | CA462658214 | TRPS1 | c.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=) | |
8 | g.115414512G>T | CA462658215 | TRPS1 | c.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=) | |
8 | g.115414513A= | CA1812853939 | TRPS1 | c.3395T= (p.Leu1132=) c.3356T= (p.Leu1119=) c.729T= c.2618T= (p.Leu873=) c.3368T= (p.Leu1123=) c.3374T= (p.Leu1125=) | |
8 | g.115414513A>C | CA184469567 | TRPS1 | c.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 |
8 | g.115414513A>G | CA372062838 | TRPS1 | c.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 |
8 | g.115414513A>T | CA372062839 | TRPS1 | c.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) | |
8 | g.115414514G>A | CA372062841 | TRPS1 | c.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) | |
8 | g.115414514G>C | CA372062842 | TRPS1 | c.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) | |
8 | g.115414514G>T | CA372062840 | TRPS1 | c.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) | |
8 | g.115414515C>A | CA372062844 | TRPS1 | c.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) | |
8 | g.115414515C>G | CA372062843 | TRPS1 | c.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) | |
8 | g.115414515C>T | CA462658217 | TRPS1 | c.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=) | |
8 | g.115414516T>A | CA372062847 | TRPS1 | c.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) | |
8 | g.115414516T>C | CA372062845 | TRPS1 | c.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 |
8 | g.115414516T>G | CA372062846 | TRPS1 | c.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 |
8 | g.115414517T>A | CA372062848 | TRPS1 | c.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) | |
8 | g.115414517T>C | CA372062849 | TRPS1 | c.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) | |
8 | g.115414517T>G | CA372062850 | TRPS1 | c.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) | |
8 | g.115414518A= | CA1812853943 | TRPS1 | c.3390T= (p.Tyr1130=) c.3351T= (p.Tyr1117=) c.724T= c.2613T= (p.Tyr871=) c.3363T= (p.Tyr1121=) c.3369T= (p.Tyr1123=) | |
8 | g.115414518A>C | CA372062851 | TRPS1 | c.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) | |
8 | g.115414518A>G | CA4851493 | TRPS1 | c.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 |
8 | g.115414518A>T | CA372062852 | TRPS1 | c.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) | |
8 | g.115414519T>A | CA372062853 | TRPS1 | c.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 |
8 | g.115414519T>C | CA372062854 | TRPS1 | c.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) | |
8 | g.115414519T>G | CA372062855 | TRPS1 | c.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) | |
8 | g.115414519T= | CA1812853945 | TRPS1 | c.3389A= (p.Tyr1130=) c.3350A= (p.Tyr1117=) c.723A= c.2612A= (p.Tyr871=) c.3362A= (p.Tyr1121=) c.3368A= (p.Tyr1123=) | |
8 | g.115414520A>C | CA372062856 | TRPS1 | c.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) | |
8 | g.115414520A>G | CA372062857 | TRPS1 | c.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) | |
8 | g.115414520A>T | CA372062858 | TRPS1 | c.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) | |
8 | g.115414521T>A | CA372062859 | TRPS1 | c.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) | |
8 | g.115414521T>C | CA462658218 | TRPS1 | c.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=) | |
8 | g.115414521T>G | CA372062860 | TRPS1 | c.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) | |
8 | g.115414522T>A | CA372062861 | TRPS1 | c.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) | |
8 | g.115414522T>C | CA372062862 | TRPS1 | c.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 |
8 | g.115414522T>G | CA372062863 | TRPS1 | c.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) | |
8 | g.115414523T>A | CA372062864 | TRPS1 | c.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 |
8 | g.115414523T>C | CA372062865 | TRPS1 | c.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) | |
8 | g.115414523T>G | CA372062866 | TRPS1 | c.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) | |
8 | g.115414524A>C | CA372062867 | TRPS1 | c.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) | |
8 | g.115414524A>G | CA462658222 | TRPS1 | c.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=) | |
8 | g.115414524A>T | CA372062868 | TRPS1 | c.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) | |
8 | g.115414525C>A | CA372062869 | TRPS1 | c.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) | |
8 | g.115414525C= | CA1812853950 | TRPS1 | c.3383G= (p.Ser1128=) c.3344G= (p.Ser1115=) c.717G= c.2606G= (p.Ser869=) c.3356G= (p.Ser1119=) c.3362G= (p.Ser1121=) | |
8 | g.115414525C>G | CA372062870 | TRPS1 | c.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) | |
8 | g.115414525C>T | CA372062871 | TRPS1 | c.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 |
8 | g.115414526T>A | CA372062874 | TRPS1 | c.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) | |
8 | g.115414526T>C | CA372062873 | TRPS1 | c.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) | |
8 | g.115414526T>G | CA372062872 | TRPS1 | c.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) | |
8 | g.115414527C>A | CA372062875 | TRPS1 | c.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) | |
8 | g.115414527C= | CA1812853953 | TRPS1 | c.3381G= (p.Trp1127=) c.3342G= (p.Trp1114=) c.715G= c.2604G= (p.Trp868=) c.3354G= (p.Trp1118=) c.3360G= (p.Trp1120=) | |
8 | g.115414527C>G | CA372062876 | TRPS1 | c.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 |
8 | g.115414527C>T | CA372062877 | TRPS1 | c.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) | |
8 | g.115414528C>A | CA372062878 | TRPS1 | c.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) | |
8 | g.115414528C>G | CA372062879 | TRPS1 | c.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 |
8 | g.115414528C>T | CA372062880 | TRPS1 | c.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) | |
8 | g.115414529A>C | CA372062883 | TRPS1 | c.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) | |
8 | g.115414529A>G | CA372062881 | TRPS1 | c.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) | |
8 | g.115414529A>T | CA372062882 | TRPS1 | c.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) | |
8 | g.115414530G>A | CA462658225 | TRPS1 | c.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=) | |
8 | g.115414530G>C | CA372062884 | TRPS1 | c.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) | |
8 | g.115414530G>T | CA372062885 | TRPS1 | c.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) | |
8 | g.115414531A>C | CA372062886 | TRPS1 | c.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) | |
8 | g.115414531A>G | CA372062887 | TRPS1 | c.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) | |
8 | g.115414531A>T | CA372062888 | TRPS1 | c.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) | |
8 | g.115414532A>C | CA372062889 | TRPS1 | c.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) | |
8 | g.115414532A>G | CA372062891 | TRPS1 | c.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) | |
8 | g.115414532A>T | CA372062890 | TRPS1 | c.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) | |
8 | g.115414533C>A | CA462658229 | TRPS1 | c.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=) | |
8 | g.115414533C= | CA1812853956 | TRPS1 | c.3375G= (p.Arg1125=) c.3336G= (p.Arg1112=) c.709G= c.2598G= (p.Arg866=) c.3348G= (p.Arg1116=) c.3354G= (p.Arg1118=) | |
8 | g.115414533C>G | CA4851494 | TRPS1 | c.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 |
8 | g.115414533C>T | CA462658228 | TRPS1 | c.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 |
8 | g.115414534C>A | CA372062892 | TRPS1 | c.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 |
8 | g.115414534C= | CA1812853959 | TRPS1 | c.3374G= (p.Arg1125=) c.3335G= (p.Arg1112=) c.708G= c.2597G= (p.Arg866=) c.3347G= (p.Arg1116=) c.3353G= (p.Arg1118=) | |
8 | g.115414534C>G | CA372062893 | TRPS1 | c.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) | |
8 | g.115414534C>T | CA4851495 | TRPS1 | c.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 |
8 | g.115414535G>A | CA4851496 | TRPS1 | c.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 |
8 | g.115414535G>C | CA372062894 | TRPS1 | c.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) | |
8 | g.115414535G= | CA1812853961 | TRPS1 | c.3373C= (p.Arg1125=) c.3334C= (p.Arg1112=) c.707C= c.2596C= (p.Arg866=) c.3346C= (p.Arg1116=) c.3352C= (p.Arg1118=) | |
8 | g.115414535G>T | CA462658233 | TRPS1 | c.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 |
8 | g.115414536C>A | CA462658234 | TRPS1 | c.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=) | |
8 | g.115414536C>G | CA462658235 | TRPS1 | c.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=) | |
8 | g.115414536C>T | CA462658236 | TRPS1 | c.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 |
8 | g.115414537A>C | CA372062895 | TRPS1 | c.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) | |
8 | g.115414537A>G | CA372062896 | TRPS1 | c.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) | |
8 | g.115414537A>T | CA372062897 | TRPS1 | c.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) | |
8 | g.115414538G>A | CA462658238 | TRPS1 | c.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=) | |
8 | g.115414538G>C | CA372062898 | TRPS1 | c.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) | |
8 | g.115414538G>T | CA372062899 | TRPS1 | c.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) | |
8 | g.115414539C>A | CA372062902 | TRPS1 | c.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 |
8 | g.115414539C= | CA1812853964 | TRPS1 | c.3369G= (p.Trp1123=) c.3330G= (p.Trp1110=) c.703G= c.2592G= (p.Trp864=) c.3342G= (p.Trp1114=) c.3348G= (p.Trp1116=) | |
8 | g.115414539C>G | CA372062901 | TRPS1 | c.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 |
8 | g.115414539C>T | CA372062900 | TRPS1 | c.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) | |
8 | g.115414540C>A | CA372062903 | TRPS1 | c.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) | |
8 | g.115414540C>G | CA372062904 | TRPS1 | c.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) | |
8 | g.115414540C>T | CA372062905 | TRPS1 | c.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) | |
8 | g.115414541A>C | CA372062906 | TRPS1 | c.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) | |
8 | g.115414541A>G | CA372062907 | TRPS1 | c.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) | |
8 | g.115414541A>T | CA372062908 | TRPS1 | c.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) | |
8 | g.115414542A= | CA1812853968 | TRPS1 | c.3366T= (p.Asp1122=) c.3327T= (p.Asp1109=) c.700T= c.2589T= (p.Asp863=) c.3339T= (p.Asp1113=) c.3345T= (p.Asp1115=) | |
8 | g.115414542A>C | CA372062910 | TRPS1 | c.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 |
8 | g.115414542A>G | CA462658240 | TRPS1 | c.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=) | |
8 | g.115414542A>T | CA372062909 | TRPS1 | c.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) | |
8 | g.115414542_115414543insAAC | CA2549060243 | TRPS1 | c.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) | |
8 | g.115414543T>A | CA4851497 | TRPS1 | c.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 |
8 | g.115414543T>C | CA372062911 | TRPS1 | c.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) | |
8 | g.115414543T>G | CA372062912 | TRPS1 | c.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) | |
8 | g.115414543T= | CA1812853969 | TRPS1 | c.3365A= (p.Asp1122=) c.3326A= (p.Asp1109=) c.699A= c.2588A= (p.Asp863=) c.3338A= (p.Asp1113=) c.3344A= (p.Asp1115=) | |
8 | g.115414543_115414544insATGTGCCTTATCC | CA2547821305 | TRPS1 | c.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) | |
8 | g.115414544C>A | CA372062913 | TRPS1 | c.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) | |
8 | g.115414544C= | CA1812853972 | TRPS1 | c.3364G= (p.Asp1122=) c.3325G= (p.Asp1109=) c.698G= c.2587G= (p.Asp863=) c.3337G= (p.Asp1113=) c.3343G= (p.Asp1115=) | |
8 | g.115414544C>G | CA372062914 | TRPS1 | c.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) | |
8 | g.115414544C>T | CA372062915 | TRPS1 | c.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 |
8 | g.115414545A>C | CA462658244 | TRPS1 | c.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=) | |
8 | g.115414545A>G | CA462658246 | TRPS1 | c.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=) | |
8 | g.115414545A>T | CA462658245 | TRPS1 | c.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=) | |
8 | g.115414546G>A | CA372062918 | TRPS1 | c.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) | |
8 | g.115414546G>C | CA372062916 | TRPS1 | c.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 |
8 | g.115414546G>T | CA372062917 | TRPS1 | c.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) | |
8 | g.115414547C>A | CA372062919 | TRPS1 | c.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) | |
8 | g.115414547C>G | CA372062920 | TRPS1 | c.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) | |
8 | g.115414547C>T | CA372062921 | TRPS1 | c.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) | |
8 | g.115414592_115414593insACTTCACTCTGGAAGTCATTATGTACAAAGGGAAGTCCAAAAAGTGG | CA2718161168 | TRPS1 | c.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 |
8 | g.115414548T>A | CA372062922 | TRPS1 | c.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) | |
8 | g.115414548T>C | CA462658248 | TRPS1 | c.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 |
8 | g.115414548T>G | CA372062923 | TRPS1 | c.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) | |
8 | g.115414548T= | CA1812853974 | TRPS1 | c.3360A= (p.Glu1120=) c.3321A= (p.Glu1107=) c.694A= c.2583A= (p.Glu861=) c.3333A= (p.Glu1111=) c.3339A= (p.Glu1113=) | |
8 | g.115414549T>A | CA372062924 | TRPS1 | c.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) | |
8 | g.115414549T>C | CA372062925 | TRPS1 | c.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) | |
8 | g.115414549T>G | CA372062926 | TRPS1 | c.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) | |
8 | g.115414550_115414555dup | CA2688317594 | TRPS1 | c.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 |
8 | g.115414550C>A | CA372062927 | TRPS1 | c.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) | |
8 | g.115414550C= | CA1812853977 | TRPS1 | c.3358G= (p.Glu1120=) c.3319G= (p.Glu1107=) c.692G= c.2581G= (p.Glu861=) c.3331G= (p.Glu1111=) c.3337G= (p.Glu1113=) | |
8 | g.115414550C>G | CA372062928 | TRPS1 | c.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) | |
8 | g.115414550C>T | CA184469585 | TRPS1 | c.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 |
8 | g.115414551A>C | CA372062929 | TRPS1 | c.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) | |
8 | g.115414551A>G | CA462658252 | TRPS1 | c.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=) | |
8 | g.115414551A>T | CA372062930 | TRPS1 | c.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 |
8 | g.115414552C>A | CA372062931 | TRPS1 | c.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) | |
8 | g.115414552C>G | CA372062933 | TRPS1 | c.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) | |
8 | g.115414552C>T | CA372062932 | TRPS1 | c.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) | |
8 | g.115414553T>A | CA372062934 | TRPS1 | c.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) | |
8 | g.115414553T>C | CA372062935 | TRPS1 | c.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 |
8 | g.115414553T>G | CA372062936 | TRPS1 | c.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) | |
8 | g.115414553T= | CA1812853979 | TRPS1 | c.3355A= (p.Ser1119=) c.3316A= (p.Ser1106=) c.689A= c.2578A= (p.Ser860=) c.3328A= (p.Ser1110=) c.3334A= (p.Ser1112=) | |
8 | g.115414554C>A | CA372062937 | TRPS1 | c.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) | |
8 | g.115414554C>G | CA372062938 | TRPS1 | c.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) | |
8 | g.115414554C>T | CA462658256 | TRPS1 | c.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=) | |
8 | g.115414555T>A | CA372062941 | TRPS1 | c.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) | |
8 | g.115414555T>C | CA372062940 | TRPS1 | c.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) | |
8 | g.115414555T>G | CA372062939 | TRPS1 | c.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) | |
8 | g.115414556G>A | CA372062942 | TRPS1 | c.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) | |
8 | g.115414556G>C | CA372062943 | TRPS1 | c.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) | |
8 | g.115414556G>T | CA372062944 | TRPS1 | c.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) | |
8 | g.115414557G>A | CA184469588 | TRPS1 | c.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 |
8 | g.115414557G>C | CA372062945 | TRPS1 | c.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) | |
8 | g.115414557G= | CA1812853981 | TRPS1 | c.3351C= (p.Phe1117=) c.3312C= (p.Phe1104=) c.685C= c.2574C= (p.Phe858=) c.3324C= (p.Phe1108=) c.3330C= (p.Phe1110=) | |
8 | g.115414557G>T | CA372062946 | TRPS1 | c.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 |
8 | g.115414558A= | CA1812853983 | TRPS1 | c.3350T= (p.Phe1117=) c.3311T= (p.Phe1104=) c.684T= c.2573T= (p.Phe858=) c.3323T= (p.Phe1108=) c.3329T= (p.Phe1110=) | |
8 | g.115414558A>C | CA372062947 | TRPS1 | c.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) | |
8 | g.115414558A>G | CA372062949 | TRPS1 | c.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 |
8 | g.115414558A>T | CA372062948 | TRPS1 | c.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) | |
8 | g.115414559A>C | CA372062950 | TRPS1 | c.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) | |
8 | g.115414559A>G | CA372062951 | TRPS1 | c.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) | |
8 | g.115414559A>T | CA372062952 | TRPS1 | c.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) | |
8 | g.115414560G>A | CA462658259 | TRPS1 | c.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=) | |
8 | g.115414560G>C | CA4851498 | TRPS1 | c.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 |
8 | g.115414560G= | CA1812853986 | TRPS1 | c.3348C= (p.Asp1116=) c.3309C= (p.Asp1103=) c.682C= c.2571C= (p.Asp857=) c.3321C= (p.Asp1107=) c.3327C= (p.Asp1109=) | |
8 | g.115414560G>T | CA372062953 | TRPS1 | c.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) | |
8 | g.115414561T>A | CA372062954 | TRPS1 | c.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) | |
8 | g.115414561T>C | CA372062955 | TRPS1 | c.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 |
8 | g.115414561T>G | CA372062956 | TRPS1 | c.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) | |
8 | g.115414562C>A | CA372062957 | TRPS1 | c.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) | |
8 | g.115414562C>G | CA372062958 | TRPS1 | c.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) | |
8 | g.115414562C>T | CA372062959 | TRPS1 | c.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) | |
8 | g.115414563A>C | CA372062961 | TRPS1 | c.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) | |
8 | g.115414563A>G | CA462658264 | TRPS1 | c.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 |
8 | g.115414563A>T | CA372062960 | TRPS1 | c.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) | |
8 | g.115414564T>A | CA372062962 | TRPS1 | c.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) | |
8 | g.115414564T>C | CA372062964 | TRPS1 | c.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) | |
8 | g.115414564T>G | CA372062963 | TRPS1 | c.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) | |
8 | g.115414565T>A | CA372062965 | TRPS1 | c.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) | |
8 | g.115414565T>C | CA372062967 | TRPS1 | c.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 |
8 | g.115414565T>G | CA372062966 | TRPS1 | c.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) | |
8 | g.115414565T= | CA1812853988 | TRPS1 | c.3343A= (p.Asn1115=) c.3304A= (p.Asn1102=) c.677A= c.2566A= (p.Asn856=) c.3316A= (p.Asn1106=) c.3322A= (p.Asn1108=) | |
8 | g.115414566A>C | CA372062968 | TRPS1 | c.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) | |
8 | g.115414566A>G | CA462658268 | TRPS1 | c.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=) | |
8 | g.115414566A>T | CA372062969 | TRPS1 | c.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) | |
8 | g.115414567T>A | CA372062970 | TRPS1 | c.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) | |
8 | g.115414567T>C | CA4851499 | TRPS1 | c.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 |
8 | g.115414567T>G | CA372062971 | TRPS1 | c.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) | |
8 | g.115414567T= | CA1812853990 | TRPS1 | c.3341A= (p.His1114=) c.3302A= (p.His1101=) c.675A= c.2564A= (p.His855=) c.3314A= (p.His1105=) c.3320A= (p.His1107=) | |
8 | g.115414568G>A | CA372062972 | TRPS1 | c.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 |
8 | g.115414568G>C | CA372062973 | TRPS1 | c.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) | |
8 | g.115414568G= | CA1812853993 | TRPS1 | c.3340C= (p.His1114=) c.3301C= (p.His1101=) c.674C= c.2563C= (p.His855=) c.3313C= (p.His1105=) c.3319C= (p.His1107=) | |
8 | g.115414568G>T | CA372062974 | TRPS1 | c.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 |
8 | g.115414569T>A | CA462658269 | TRPS1 | c.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=) | |
8 | g.115414569T>C | CA462658270 | TRPS1 | c.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 |
8 | g.115414569T>G | CA462658271 | TRPS1 | c.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=) | |
8 | g.115414570A>C | CA372062975 | TRPS1 | c.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) | |
8 | g.115414570A>G | CA372062976 | TRPS1 | c.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 |
8 | g.115414570A>T | CA372062977 | TRPS1 | c.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) | |
8 | g.115414571C>A | CA372062978 | TRPS1 | c.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) | |
8 | g.115414571C= | CA1812853996 | TRPS1 | c.3337G= (p.Val1113=) c.3298G= (p.Val1100=) c.671G= c.2560G= (p.Val854=) c.3310G= (p.Val1104=) c.3316G= (p.Val1106=) | |
8 | g.115414571C>G | CA372062979 | TRPS1 | c.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) | |
8 | g.115414571C>T | CA4851500 | TRPS1 | c.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 |
8 | g.115414572A>C | CA372062980 | TRPS1 | c.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) | |
8 | g.115414572A>G | CA462658273 | TRPS1 | c.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=) | |
8 | g.115414572A>T | CA372062981 | TRPS1 | c.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) | |
8 | g.115414573A>C | CA372062982 | TRPS1 | c.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) | |
8 | g.115414573A>G | CA372062983 | TRPS1 | c.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) | |
8 | g.115414573A>T | CA372062984 | TRPS1 | c.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) | |
8 | g.115414574A= | CA1812853999 | TRPS1 | c.3334T= (p.Phe1112=) c.3295T= (p.Phe1099=) c.668T= c.2557T= (p.Phe853=) c.3307T= (p.Phe1103=) c.3313T= (p.Phe1105=) | |
8 | g.115414574A>C | CA372062985 | TRPS1 | c.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 |
8 | g.115414574A>G | CA4851501 | TRPS1 | c.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 |
8 | g.115414574A>T | CA372062986 | TRPS1 | c.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) | |
8 | g.115414575G>A | CA4851503 | TRPS1 | c.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 |
8 | g.115414575G>C | CA4851502 | TRPS1 | c.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 |
8 | g.115414575G= | CA1812854003 | TRPS1 | c.3333C= (p.Pro1111=) c.3294C= (p.Pro1098=) c.667C= c.2556C= (p.Pro852=) c.3306C= (p.Pro1102=) c.3312C= (p.Pro1104=) | |
8 | g.115414575G>T | CA462658275 | TRPS1 | c.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=) | |
8 | g.115414577del | CA645561863 | TRPS1 | c.3333del (p.Phe1112LeufsTer?) c.3294del (p.Phe1099LeufsTer?) c.667del c.2556del (p.Phe853LeufsTer?) c.3306del (p.Phe1103LeufsTer?) c.3312del (p.Phe1105LeufsTer?) | COSMIC COSMIC |
8 | g.115414576G>A | CA372062987 | TRPS1 | c.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) | |
8 | g.115414576G>C | CA372062988 | TRPS1 | c.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) | |
8 | g.115414576G>T | CA372062989 | TRPS1 | c.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 |
8 | g.115414577G>A | CA372062991 | TRPS1 | c.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) | |
8 | g.115414577G>C | CA372062992 | TRPS1 | c.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) | |
8 | g.115414577G>T | CA372062990 | TRPS1 | c.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) | |
8 | g.115414578A>C | CA462658277 | TRPS1 | c.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=) | |
8 | g.115414578A>G | CA462658278 | TRPS1 | c.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=) | |
8 | g.115414578A>T | CA462658280 | TRPS1 | c.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 |
8 | g.115414579A>C | CA372062993 | TRPS1 | c.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) | |
8 | g.115414579A>G | CA372062994 | TRPS1 | c.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) | |
8 | g.115414579A>T | CA372062995 | TRPS1 | c.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) | |
8 | g.115414580G>A | CA4851504 | TRPS1 | c.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 |
8 | g.115414580G>C | CA372062996 | TRPS1 | c.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) | |
8 | g.115414580G= | CA1812854008 | TRPS1 | c.3328C= (p.Leu1110=) c.3289C= (p.Leu1097=) c.662C= c.2551C= (p.Leu851=) c.3301C= (p.Leu1101=) c.3307C= (p.Leu1103=) | |
8 | g.115414580G>T | CA372062997 | TRPS1 | c.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) | |
8 | g.115414581T>A | CA462658283 | TRPS1 | c.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=) | |
8 | g.115414581T>C | CA462658281 | TRPS1 | c.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 |
8 | g.115414581T>G | CA462658284 | TRPS1 | c.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=) | |
8 | g.115414581T= | CA1812854011 | TRPS1 | c.3327A= (p.Gly1109=) c.3288A= (p.Gly1096=) c.661A= c.2550A= (p.Gly850=) c.3300A= (p.Gly1100=) c.3306A= (p.Gly1102=) | |
8 | g.115414582C>A | CA372062998 | TRPS1 | c.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) | |
8 | g.115414582C>G | CA372062999 | TRPS1 | c.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) | |
8 | g.115414582C>T | CA372063000 | TRPS1 | c.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) | |
8 | g.115414583C>A | CA372063001 | TRPS1 | c.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) | |
8 | g.115414583C>G | CA372063002 | TRPS1 | c.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) | |
8 | g.115414583C>T | CA372063003 | TRPS1 | c.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) | |
8 | g.115414584A>C | CA372063005 | TRPS1 | c.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) | |
8 | g.115414584A>G | CA462658287 | TRPS1 | c.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=) | |
8 | g.115414584A>T | CA372063004 | TRPS1 | c.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) | |
8 | g.115414585A= | CA1812854013 | TRPS1 | c.3323T= (p.Phe1108=) c.3284T= (p.Phe1095=) c.657T= c.2546T= (p.Phe849=) c.3296T= (p.Phe1099=) c.3302T= (p.Phe1101=) | |
8 | g.115414585A>C | CA372063006 | TRPS1 | c.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 |
8 | g.115414585A>G | CA372063007 | TRPS1 | c.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) | |
8 | g.115414585A>T | CA372063008 | TRPS1 | c.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) | |
8 | g.115414586A= | CA1812854015 | TRPS1 | c.3322T= (p.Phe1108=) c.3283T= (p.Phe1095=) c.656T= c.2545T= (p.Phe849=) c.3295T= (p.Phe1099=) c.3301T= (p.Phe1101=) | |
8 | g.115414586A>C | CA372063009 | TRPS1 | c.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) | |
8 | g.115414586A>G | CA372063010 | TRPS1 | c.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 |
8 | g.115414586A>T | CA372063011 | TRPS1 | c.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) | |
8 | g.115414587A>C | CA462658294 | TRPS1 | c.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=) | |
8 | g.115414587A>G | CA462658290 | TRPS1 | c.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=) | |
8 | g.115414587A>T | CA462658292 | TRPS1 | c.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=) | |
8 | g.115414588A>C | CA372063012 | TRPS1 | c.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) | |
8 | g.115414588A>G | CA372063013 | TRPS1 | c.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) | |
8 | g.115414588A>T | CA372063014 | TRPS1 | c.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) | |
8 | g.115414588_115414589delinsAG | CA1812854018 | TRPS1 | c.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=) | |
8 | g.115414589del | CA10604328 | TRPS1 | c.3319del (p.Leu1107PhefsTer?) c.3280del (p.Leu1094PhefsTer?) c.653del c.2542del (p.Leu848PhefsTer?) c.3292del (p.Leu1098PhefsTer?) c.3298del (p.Leu1100PhefsTer?) | ClinVar dbSNP |
8 | g.115414589G>A | CA372063015 | TRPS1 | c.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) | |
8 | g.115414589G>C | CA372063016 | TRPS1 | c.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) | |
8 | g.115414589G>T | CA372063017 | TRPS1 | c.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) | |
8 | g.115414590T>A | CA462658298 | TRPS1 | c.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=) | |
8 | g.115414590T>C | CA462658299 | TRPS1 | c.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=) | |
8 | g.115414590T>G | CA462658300 | TRPS1 | c.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=) | |
8 | g.115414591G>A | CA372063020 | TRPS1 | c.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) | |
8 | g.115414591G>C | CA372063019 | TRPS1 | c.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) | |
8 | g.115414591G>T | CA372063018 | TRPS1 | c.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 |
8 | g.115414592G>A | CA372063021 | TRPS1 | c.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 |
8 | g.115414592G>C | CA372063022 | TRPS1 | c.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) | |
8 | g.115414592G>T | CA372063023 | TRPS1 | c.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 |
8 | g.115414592_115414593insTGAAG | CA2695210273 | TRPS1 | c.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?) | |
8 | g.115414593G>A | CA462658302 | TRPS1 | c.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 |
8 | g.115414593G>C | CA117612 | TRPS1 | c.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 |
8 | g.115414593G= | CA1812854033 | TRPS1 | c.3315C= (p.Tyr1105=) c.3276C= (p.Tyr1092=) c.649C= c.2538C= (p.Tyr846=) c.3288C= (p.Tyr1096=) c.3294C= (p.Tyr1098=) | |
8 | g.115414593G>T | CA372063024 | TRPS1 | c.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) | |
8 | g.115414594T>A | CA372063025 | TRPS1 | c.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) | |
8 | g.115414594T>C | CA372063026 | TRPS1 | c.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 |
8 | g.115414594T>G | CA372063027 | TRPS1 | c.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) | |
8 | g.115414595A>C | CA372063028 | TRPS1 | c.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) | |
8 | g.115414595A>G | CA372063029 | TRPS1 | c.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) | |
8 | g.115414595A>T | CA372063030 | TRPS1 | c.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) | |
8 | g.115414596C>A | CA372063031 | TRPS1 | c.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) | |
8 | g.115414596C= | CA1812854037 | TRPS1 | c.3312G= (p.Gln1104=) c.3273G= (p.Gln1091=) c.646G= c.2535G= (p.Gln845=) c.3285G= (p.Gln1095=) c.3291G= (p.Gln1097=) | |
8 | g.115414596C>G | CA4851505 | TRPS1 | c.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 |
8 | g.115414596C>T | CA462658305 | TRPS1 | c.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 |
8 | g.115414597T>A | CA372063034 | TRPS1 | c.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) | |
8 | g.115414597T>C | CA372063033 | TRPS1 | c.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 |
8 | g.115414597T>G | CA372063032 | TRPS1 | c.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) | |
8 | g.115414598G>A | CA372063035 | TRPS1 | c.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 |
8 | g.115414598G>C | CA372063036 | TRPS1 | c.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) | |
8 | g.115414598G>T | CA372063037 | TRPS1 | c.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) | |
8 | g.115414599G>A | CA462658307 | TRPS1 | c.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=) | |
8 | g.115414599G>C | CA372063038 | TRPS1 | c.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) | |
8 | g.115414599G>T | CA372063039 | TRPS1 | c.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) | |
8 | g.115414600T>A | CA372063040 | TRPS1 | c.3308A>T (p.Tyr1103Phe) c.3269A>T (p.Tyr1090Phe) c.642A>T c.2531A>T (p.Tyr844Phe) c.3281A>T (p.Tyr1094Phe) c.3287A>T (p.Tyr1096Phe) | |
8 | g.115414600T>C | CA372063041 | TRPS1 | c.3308A>G (p.Tyr1103Cys) c.3269A>G (p.Tyr1090Cys) c.642A>G c.2531A>G (p.Tyr844Cys) c.3281A>G (p.Tyr1094Cys) c.3287A>G (p.Tyr1096Cys) | dbSNP |
8 | g.115414600T>G | CA372063042 | TRPS1 | c.3308A>C (p.Tyr1103Ser) c.3269A>C (p.Tyr1090Ser) c.642A>C c.2531A>C (p.Tyr844Ser) c.3281A>C (p.Tyr1094Ser) c.3287A>C (p.Tyr1096Ser) | |
8 | g.115414601A>C | CA372063043 | TRPS1 | c.3307T>G (p.Tyr1103Asp) c.3268T>G (p.Tyr1090Asp) c.641T>G c.2530T>G (p.Tyr844Asp) c.3280T>G (p.Tyr1094Asp) c.3286T>G (p.Tyr1096Asp) | |
8 | g.115414601A>G | CA372063044 | TRPS1 | c.3307T>C (p.Tyr1103His) c.3268T>C (p.Tyr1090His) c.641T>C c.2530T>C (p.Tyr844His) c.3280T>C (p.Tyr1094His) c.3286T>C (p.Tyr1096His) | gnomAD v4 |
8 | g.115414601A>T | CA372063045 | TRPS1 | c.3307T>A (p.Tyr1103Asn) c.3268T>A (p.Tyr1090Asn) c.641T>A c.2530T>A (p.Tyr844Asn) c.3280T>A (p.Tyr1094Asn) c.3286T>A (p.Tyr1096Asn) | |
8 | g.115414602C>A | CA372063046 | TRPS1 | c.3306G>T (p.Lys1102Asn) c.3267G>T (p.Lys1089Asn) c.640G>T c.2529G>T (p.Lys843Asn) c.3279G>T (p.Lys1093Asn) c.3285G>T (p.Lys1095Asn) | |
8 | g.115414602C>G | CA372063047 | TRPS1 | c.3306G>C (p.Lys1102Asn) c.3267G>C (p.Lys1089Asn) c.640G>C c.2529G>C (p.Lys843Asn) c.3279G>C (p.Lys1093Asn) c.3285G>C (p.Lys1095Asn) | |
8 | g.115414602C>T | CA462658309 | TRPS1 | c.3306G>A (p.Lys1102=) c.3267G>A (p.Lys1089=) c.640G>A c.2529G>A (p.Lys843=) c.3279G>A (p.Lys1093=) c.3285G>A (p.Lys1095=) |