| 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.115414192T>A | CA372062144 | TRPS1 | c.3716A>T (p.Asp1239Val) c.3677A>T (p.Asp1226Val) c.2939A>T (p.Asp980Val) c.3689A>T (p.Asp1230Val) c.3695A>T (p.Asp1232Val) | |
| 8 | g.115414192T>C | CA372062146 | TRPS1 | c.3716A>G (p.Asp1239Gly) c.3677A>G (p.Asp1226Gly) c.2939A>G (p.Asp980Gly) c.3689A>G (p.Asp1230Gly) c.3695A>G (p.Asp1232Gly) | ClinVar dbSNP |
| 8 | g.115414192T>G | CA372062145 | TRPS1 | c.3716A>C (p.Asp1239Ala) c.3677A>C (p.Asp1226Ala) c.2939A>C (p.Asp980Ala) c.3689A>C (p.Asp1230Ala) c.3695A>C (p.Asp1232Ala) | |
| 8 | g.115414193C>A | CA372062147 | TRPS1 | c.3715G>T (p.Asp1239Tyr) c.3676G>T (p.Asp1226Tyr) c.2938G>T (p.Asp980Tyr) c.3688G>T (p.Asp1230Tyr) c.3694G>T (p.Asp1232Tyr) | |
| 8 | g.115414193C>G | CA372062148 | TRPS1 | c.3715G>C (p.Asp1239His) c.3676G>C (p.Asp1226His) c.2938G>C (p.Asp980His) c.3688G>C (p.Asp1230His) c.3694G>C (p.Asp1232His) | |
| 8 | g.115414193C>T | CA372062149 | TRPS1 | c.3715G>A (p.Asp1239Asn) c.3676G>A (p.Asp1226Asn) c.2938G>A (p.Asp980Asn) c.3688G>A (p.Asp1230Asn) c.3694G>A (p.Asp1232Asn) | |
| 8 | g.115414194C>A | CA462658150 | TRPS1 | c.3714G>T (p.Leu1238=) c.3675G>T (p.Leu1225=) c.2937G>T (p.Leu979=) c.3687G>T (p.Leu1229=) c.3693G>T (p.Leu1231=) | |
| 8 | g.115414194C= | CA1812853704 | TRPS1 | c.3714G= (p.Leu1238=) c.3675G= (p.Leu1225=) c.2937G= (p.Leu979=) c.3687G= (p.Leu1229=) c.3693G= (p.Leu1231=) | |
| 8 | g.115414194C>G | CA462658151 | TRPS1 | c.3714G>C (p.Leu1238=) c.3675G>C (p.Leu1225=) c.2937G>C (p.Leu979=) c.3687G>C (p.Leu1229=) c.3693G>C (p.Leu1231=) | |
| 8 | g.115414194C>T | CA4851454 | TRPS1 | c.3714G>A (p.Leu1238=) c.3675G>A (p.Leu1225=) c.2937G>A (p.Leu979=) c.3687G>A (p.Leu1229=) c.3693G>A (p.Leu1231=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414195A>C | CA372062152 | TRPS1 | c.3713T>G (p.Leu1238Arg) c.3674T>G (p.Leu1225Arg) c.2936T>G (p.Leu979Arg) c.3686T>G (p.Leu1229Arg) c.3692T>G (p.Leu1231Arg) | |
| 8 | g.115414195A>G | CA372062150 | TRPS1 | c.3713T>C (p.Leu1238Pro) c.3674T>C (p.Leu1225Pro) c.2936T>C (p.Leu979Pro) c.3686T>C (p.Leu1229Pro) c.3692T>C (p.Leu1231Pro) | |
| 8 | g.115414195A>T | CA372062151 | TRPS1 | c.3713T>A (p.Leu1238Gln) c.3674T>A (p.Leu1225Gln) c.2936T>A (p.Leu979Gln) c.3686T>A (p.Leu1229Gln) c.3692T>A (p.Leu1231Gln) | |
| 8 | g.115414196G>A | CA462658152 | TRPS1 | c.3712C>T (p.Leu1238=) c.3673C>T (p.Leu1225=) c.2935C>T (p.Leu979=) c.3685C>T (p.Leu1229=) c.3691C>T (p.Leu1231=) | dbSNP |
| 8 | g.115414196G>C | CA372062153 | TRPS1 | c.3712C>G (p.Leu1238Val) c.3673C>G (p.Leu1225Val) c.2935C>G (p.Leu979Val) c.3685C>G (p.Leu1229Val) c.3691C>G (p.Leu1231Val) | |
| 8 | g.115414196G= | CA1812853705 | TRPS1 | c.3712C= (p.Leu1238=) c.3673C= (p.Leu1225=) c.2935C= (p.Leu979=) c.3685C= (p.Leu1229=) c.3691C= (p.Leu1231=) | |
| 8 | g.115414196G>T | CA372062154 | TRPS1 | c.3712C>A (p.Leu1238Met) c.3673C>A (p.Leu1225Met) c.2935C>A (p.Leu979Met) c.3685C>A (p.Leu1229Met) c.3691C>A (p.Leu1231Met) | |
| 8 | g.115414197A>C | CA372062155 | TRPS1 | c.3711T>G (p.Phe1237Leu) c.3672T>G (p.Phe1224Leu) c.2934T>G (p.Phe978Leu) c.3684T>G (p.Phe1228Leu) c.3690T>G (p.Phe1230Leu) | |
| 8 | g.115414197A>G | CA462658153 | TRPS1 | c.3711T>C (p.Phe1237=) c.3672T>C (p.Phe1224=) c.2934T>C (p.Phe978=) c.3684T>C (p.Phe1228=) c.3690T>C (p.Phe1230=) | |
| 8 | g.115414197A>T | CA372062156 | TRPS1 | c.3711T>A (p.Phe1237Leu) c.3672T>A (p.Phe1224Leu) c.2934T>A (p.Phe978Leu) c.3684T>A (p.Phe1228Leu) c.3690T>A (p.Phe1230Leu) | |
| 8 | g.115414198A>C | CA372062157 | TRPS1 | c.3710T>G (p.Phe1237Cys) c.3671T>G (p.Phe1224Cys) c.2933T>G (p.Phe978Cys) c.3683T>G (p.Phe1228Cys) c.3689T>G (p.Phe1230Cys) | |
| 8 | g.115414198A>G | CA372062158 | TRPS1 | c.3710T>C (p.Phe1237Ser) c.3671T>C (p.Phe1224Ser) c.2933T>C (p.Phe978Ser) c.3683T>C (p.Phe1228Ser) c.3689T>C (p.Phe1230Ser) | |
| 8 | g.115414198A>T | CA372062159 | TRPS1 | c.3710T>A (p.Phe1237Tyr) c.3671T>A (p.Phe1224Tyr) c.2933T>A (p.Phe978Tyr) c.3683T>A (p.Phe1228Tyr) c.3689T>A (p.Phe1230Tyr) | |
| 8 | g.115414199A>C | CA372062160 | TRPS1 | c.3709T>G (p.Phe1237Val) c.3670T>G (p.Phe1224Val) c.2932T>G (p.Phe978Val) c.3682T>G (p.Phe1228Val) c.3688T>G (p.Phe1230Val) | |
| 8 | g.115414199A>G | CA372062161 | TRPS1 | c.3709T>C (p.Phe1237Leu) c.3670T>C (p.Phe1224Leu) c.2932T>C (p.Phe978Leu) c.3682T>C (p.Phe1228Leu) c.3688T>C (p.Phe1230Leu) | |
| 8 | g.115414199A>T | CA372062162 | TRPS1 | c.3709T>A (p.Phe1237Ile) c.3670T>A (p.Phe1224Ile) c.2932T>A (p.Phe978Ile) c.3682T>A (p.Phe1228Ile) c.3688T>A (p.Phe1230Ile) | |
| 8 | g.115414200G>A | CA462658154 | TRPS1 | c.3708C>T (p.Val1236=) c.3669C>T (p.Val1223=) c.2931C>T (p.Val977=) c.3681C>T (p.Val1227=) c.3687C>T (p.Val1229=) | COSMIC COSMIC |
| 8 | g.115414200G>C | CA462658156 | TRPS1 | c.3708C>G (p.Val1236=) c.3669C>G (p.Val1223=) c.2931C>G (p.Val977=) c.3681C>G (p.Val1227=) c.3687C>G (p.Val1229=) | |
| 8 | g.115414200G>T | CA462658155 | TRPS1 | c.3708C>A (p.Val1236=) c.3669C>A (p.Val1223=) c.2931C>A (p.Val977=) c.3681C>A (p.Val1227=) c.3687C>A (p.Val1229=) | gnomAD v4 |
| 8 | g.115414201A= | CA1812853706 | TRPS1 | c.3707T= (p.Val1236=) c.3668T= (p.Val1223=) c.2930T= (p.Val977=) c.3680T= (p.Val1227=) c.3686T= (p.Val1229=) | |
| 8 | g.115414201A>C | CA372062163 | TRPS1 | c.3707T>G (p.Val1236Gly) c.3668T>G (p.Val1223Gly) c.2930T>G (p.Val977Gly) c.3680T>G (p.Val1227Gly) c.3686T>G (p.Val1229Gly) | |
| 8 | g.115414201A>G | CA372062164 | TRPS1 | c.3707T>C (p.Val1236Ala) c.3668T>C (p.Val1223Ala) c.2930T>C (p.Val977Ala) c.3680T>C (p.Val1227Ala) c.3686T>C (p.Val1229Ala) | dbSNP gnomAD v4 |
| 8 | g.115414201A>T | CA372062165 | TRPS1 | c.3707T>A (p.Val1236Asp) c.3668T>A (p.Val1223Asp) c.2930T>A (p.Val977Asp) c.3680T>A (p.Val1227Asp) c.3686T>A (p.Val1229Asp) | |
| 8 | g.115414202C>A | CA372062166 | TRPS1 | c.3706G>T (p.Val1236Phe) c.3667G>T (p.Val1223Phe) c.2929G>T (p.Val977Phe) c.3679G>T (p.Val1227Phe) c.3685G>T (p.Val1229Phe) | |
| 8 | g.115414202C>G | CA372062168 | TRPS1 | c.3706G>C (p.Val1236Leu) c.3667G>C (p.Val1223Leu) c.2929G>C (p.Val977Leu) c.3679G>C (p.Val1227Leu) c.3685G>C (p.Val1229Leu) | |
| 8 | g.115414202C>T | CA372062167 | TRPS1 | c.3706G>A (p.Val1236Ile) c.3667G>A (p.Val1223Ile) c.2929G>A (p.Val977Ile) c.3679G>A (p.Val1227Ile) c.3685G>A (p.Val1229Ile) | |
| 8 | g.115414203A>C | CA372062169 | TRPS1 | c.3705T>G (p.Ile1235Met) c.3666T>G (p.Ile1222Met) c.2928T>G (p.Ile976Met) c.3678T>G (p.Ile1226Met) c.3684T>G (p.Ile1228Met) | |
| 8 | g.115414203A>G | CA462658157 | TRPS1 | c.3705T>C (p.Ile1235=) c.3666T>C (p.Ile1222=) c.2928T>C (p.Ile976=) c.3678T>C (p.Ile1226=) c.3684T>C (p.Ile1228=) | |
| 8 | g.115414203A>T | CA462658158 | TRPS1 | c.3705T>A (p.Ile1235=) c.3666T>A (p.Ile1222=) c.2928T>A (p.Ile976=) c.3678T>A (p.Ile1226=) c.3684T>A (p.Ile1228=) | |
| 8 | g.115414204A>C | CA372062170 | TRPS1 | c.3704T>G (p.Ile1235Ser) c.3665T>G (p.Ile1222Ser) c.2927T>G (p.Ile976Ser) c.3677T>G (p.Ile1226Ser) c.3683T>G (p.Ile1228Ser) | |
| 8 | g.115414204A>G | CA372062171 | TRPS1 | c.3704T>C (p.Ile1235Thr) c.3665T>C (p.Ile1222Thr) c.2927T>C (p.Ile976Thr) c.3677T>C (p.Ile1226Thr) c.3683T>C (p.Ile1228Thr) | |
| 8 | g.115414204A>T | CA372062172 | TRPS1 | c.3704T>A (p.Ile1235Asn) c.3665T>A (p.Ile1222Asn) c.2927T>A (p.Ile976Asn) c.3677T>A (p.Ile1226Asn) c.3683T>A (p.Ile1228Asn) | |
| 8 | g.115414205T>A | CA372062173 | TRPS1 | c.3703A>T (p.Ile1235Phe) c.3664A>T (p.Ile1222Phe) c.2926A>T (p.Ile976Phe) c.3676A>T (p.Ile1226Phe) c.3682A>T (p.Ile1228Phe) | |
| 8 | g.115414205T>C | CA4851455 | TRPS1 | c.3703A>G (p.Ile1235Val) c.3664A>G (p.Ile1222Val) c.2926A>G (p.Ile976Val) c.3676A>G (p.Ile1226Val) c.3682A>G (p.Ile1228Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414205T>G | CA372062174 | TRPS1 | c.3703A>C (p.Ile1235Leu) c.3664A>C (p.Ile1222Leu) c.2926A>C (p.Ile976Leu) c.3676A>C (p.Ile1226Leu) c.3682A>C (p.Ile1228Leu) | |
| 8 | g.115414205T= | CA1812853707 | TRPS1 | c.3703A= (p.Ile1235=) c.3664A= (p.Ile1222=) c.2926A= (p.Ile976=) c.3676A= (p.Ile1226=) c.3682A= (p.Ile1228=) | |
| 8 | g.115414206G>A | CA462658165 | TRPS1 | c.3702C>T (p.Gly1234=) c.3663C>T (p.Gly1221=) c.2925C>T (p.Gly975=) c.3675C>T (p.Gly1225=) c.3681C>T (p.Gly1227=) | |
| 8 | g.115414206G>C | CA462658166 | TRPS1 | c.3702C>G (p.Gly1234=) c.3663C>G (p.Gly1221=) c.2925C>G (p.Gly975=) c.3675C>G (p.Gly1225=) c.3681C>G (p.Gly1227=) | |
| 8 | g.115414206G>T | CA462658167 | TRPS1 | c.3702C>A (p.Gly1234=) c.3663C>A (p.Gly1221=) c.2925C>A (p.Gly975=) c.3675C>A (p.Gly1225=) c.3681C>A (p.Gly1227=) | |
| 8 | g.115414207C>A | CA372062175 | TRPS1 | c.3701G>T (p.Gly1234Val) c.3662G>T (p.Gly1221Val) c.2924G>T (p.Gly975Val) c.3674G>T (p.Gly1225Val) c.3680G>T (p.Gly1227Val) | |
| 8 | g.115414207C>G | CA372062176 | TRPS1 | c.3701G>C (p.Gly1234Ala) c.3662G>C (p.Gly1221Ala) c.2924G>C (p.Gly975Ala) c.3674G>C (p.Gly1225Ala) c.3680G>C (p.Gly1227Ala) | |
| 8 | g.115414207C>T | CA372062177 | TRPS1 | c.3701G>A (p.Gly1234Asp) c.3662G>A (p.Gly1221Asp) c.2924G>A (p.Gly975Asp) c.3674G>A (p.Gly1225Asp) c.3680G>A (p.Gly1227Asp) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.115414208C>A | CA372062178 | TRPS1 | c.3700G>T (p.Gly1234Cys) c.3661G>T (p.Gly1221Cys) c.2923G>T (p.Gly975Cys) c.3673G>T (p.Gly1225Cys) c.3679G>T (p.Gly1227Cys) | |
| 8 | g.115414208C>G | CA372062179 | TRPS1 | c.3700G>C (p.Gly1234Arg) c.3661G>C (p.Gly1221Arg) c.2923G>C (p.Gly975Arg) c.3673G>C (p.Gly1225Arg) c.3679G>C (p.Gly1227Arg) | |
| 8 | g.115414208C>T | CA372062180 | TRPS1 | c.3700G>A (p.Gly1234Ser) c.3661G>A (p.Gly1221Ser) c.2923G>A (p.Gly975Ser) c.3673G>A (p.Gly1225Ser) c.3679G>A (p.Gly1227Ser) | |
| 8 | g.115414209A>C | CA372062181 | TRPS1 | c.3699T>G (p.Cys1233Trp) c.3660T>G (p.Cys1220Trp) c.2922T>G (p.Cys974Trp) c.3672T>G (p.Cys1224Trp) c.3678T>G (p.Cys1226Trp) | |
| 8 | g.115414209A>G | CA462658173 | TRPS1 | c.3699T>C (p.Cys1233=) c.3660T>C (p.Cys1220=) c.2922T>C (p.Cys974=) c.3672T>C (p.Cys1224=) c.3678T>C (p.Cys1226=) | gnomAD v4 |
| 8 | g.115414209A>T | CA372062182 | TRPS1 | c.3699T>A (p.Cys1233Ter) c.3660T>A (p.Cys1220Ter) c.2922T>A (p.Cys974Ter) c.3672T>A (p.Cys1224Ter) c.3678T>A (p.Cys1226Ter) | |
| 8 | g.115414210C>A | CA372062183 | TRPS1 | c.3698G>T (p.Cys1233Phe) c.3659G>T (p.Cys1220Phe) c.2921G>T (p.Cys974Phe) c.3671G>T (p.Cys1224Phe) c.3677G>T (p.Cys1226Phe) | |
| 8 | g.115414210C= | CA1812853708 | TRPS1 | c.3698G= (p.Cys1233=) c.3659G= (p.Cys1220=) c.2921G= (p.Cys974=) c.3671G= (p.Cys1224=) c.3677G= (p.Cys1226=) | |
| 8 | g.115414210C>G | CA372062184 | TRPS1 | c.3698G>C (p.Cys1233Ser) c.3659G>C (p.Cys1220Ser) c.2921G>C (p.Cys974Ser) c.3671G>C (p.Cys1224Ser) c.3677G>C (p.Cys1226Ser) | |
| 8 | g.115414210C>T | CA372062185 | TRPS1 | c.3698G>A (p.Cys1233Tyr) c.3659G>A (p.Cys1220Tyr) c.2921G>A (p.Cys974Tyr) c.3671G>A (p.Cys1224Tyr) c.3677G>A (p.Cys1226Tyr) | ClinVar dbSNP |
| 8 | g.115414211A>C | CA372062186 | TRPS1 | c.3697T>G (p.Cys1233Gly) c.3658T>G (p.Cys1220Gly) c.2920T>G (p.Cys974Gly) c.3670T>G (p.Cys1224Gly) c.3676T>G (p.Cys1226Gly) | |
| 8 | g.115414211A>G | CA372062187 | TRPS1 | c.3697T>C (p.Cys1233Arg) c.3658T>C (p.Cys1220Arg) c.2920T>C (p.Cys974Arg) c.3670T>C (p.Cys1224Arg) c.3676T>C (p.Cys1226Arg) | |
| 8 | g.115414211A>T | CA372062188 | TRPS1 | c.3697T>A (p.Cys1233Ser) c.3658T>A (p.Cys1220Ser) c.2920T>A (p.Cys974Ser) c.3670T>A (p.Cys1224Ser) c.3676T>A (p.Cys1226Ser) | |
| 8 | g.115414212G>A | CA462658179 | TRPS1 | c.3696C>T (p.His1232=) c.3657C>T (p.His1219=) c.2919C>T (p.His973=) c.3669C>T (p.His1223=) c.3675C>T (p.His1225=) | |
| 8 | g.115414212G>C | CA372062189 | TRPS1 | c.3696C>G (p.His1232Gln) c.3657C>G (p.His1219Gln) c.2919C>G (p.His973Gln) c.3669C>G (p.His1223Gln) c.3675C>G (p.His1225Gln) | |
| 8 | g.115414212G>T | CA372062190 | TRPS1 | c.3696C>A (p.His1232Gln) c.3657C>A (p.His1219Gln) c.2919C>A (p.His973Gln) c.3669C>A (p.His1223Gln) c.3675C>A (p.His1225Gln) | |
| 8 | g.115414213T>A | CA372062191 | TRPS1 | c.3695A>T (p.His1232Leu) c.3656A>T (p.His1219Leu) c.2918A>T (p.His973Leu) c.3668A>T (p.His1223Leu) c.3674A>T (p.His1225Leu) | |
| 8 | g.115414213T>C | CA372062192 | TRPS1 | c.3695A>G (p.His1232Arg) c.3656A>G (p.His1219Arg) c.2918A>G (p.His973Arg) c.3668A>G (p.His1223Arg) c.3674A>G (p.His1225Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414213T>G | CA372062193 | TRPS1 | c.3695A>C (p.His1232Pro) c.3656A>C (p.His1219Pro) c.2918A>C (p.His973Pro) c.3668A>C (p.His1223Pro) c.3674A>C (p.His1225Pro) | gnomAD v4 |
| 8 | g.115414213T= | CA1812853709 | TRPS1 | c.3695A= (p.His1232=) c.3656A= (p.His1219=) c.2918A= (p.His973=) c.3668A= (p.His1223=) c.3674A= (p.His1225=) | |
| 8 | g.115414214G>A | CA372062196 | TRPS1 | c.3694C>T (p.His1232Tyr) c.3655C>T (p.His1219Tyr) c.2917C>T (p.His973Tyr) c.3667C>T (p.His1223Tyr) c.3673C>T (p.His1225Tyr) | gnomAD v4 |
| 8 | g.115414214G>C | CA372062195 | TRPS1 | c.3694C>G (p.His1232Asp) c.3655C>G (p.His1219Asp) c.2917C>G (p.His973Asp) c.3667C>G (p.His1223Asp) c.3673C>G (p.His1225Asp) | |
| 8 | g.115414214G>T | CA372062194 | TRPS1 | c.3694C>A (p.His1232Asn) c.3655C>A (p.His1219Asn) c.2917C>A (p.His973Asn) c.3667C>A (p.His1223Asn) c.3673C>A (p.His1225Asn) | |
| 8 | g.115414215C>A | CA462658180 | TRPS1 | c.3693G>T (p.Val1231=) c.3654G>T (p.Val1218=) c.2916G>T (p.Val972=) c.3666G>T (p.Val1222=) c.3672G>T (p.Val1224=) | dbSNP |
| 8 | g.115414215C= | CA1812853710 | TRPS1 | c.3693G= (p.Val1231=) c.3654G= (p.Val1218=) c.2916G= (p.Val972=) c.3666G= (p.Val1222=) c.3672G= (p.Val1224=) | |
| 8 | g.115414215C>G | CA462658181 | TRPS1 | c.3693G>C (p.Val1231=) c.3654G>C (p.Val1218=) c.2916G>C (p.Val972=) c.3666G>C (p.Val1222=) c.3672G>C (p.Val1224=) | |
| 8 | g.115414215C>T | CA462658183 | TRPS1 | c.3693G>A (p.Val1231=) c.3654G>A (p.Val1218=) c.2916G>A (p.Val972=) c.3666G>A (p.Val1222=) c.3672G>A (p.Val1224=) | |
| 8 | g.115414216A= | CA1812853711 | TRPS1 | c.3692T= (p.Val1231=) c.3653T= (p.Val1218=) c.2915T= (p.Val972=) c.3665T= (p.Val1222=) c.3671T= (p.Val1224=) | |
| 8 | g.115414216A>C | CA372062197 | TRPS1 | c.3692T>G (p.Val1231Gly) c.3653T>G (p.Val1218Gly) c.2915T>G (p.Val972Gly) c.3665T>G (p.Val1222Gly) c.3671T>G (p.Val1224Gly) | |
| 8 | g.115414216A>G | CA372062199 | TRPS1 | c.3692T>C (p.Val1231Ala) c.3653T>C (p.Val1218Ala) c.2915T>C (p.Val972Ala) c.3665T>C (p.Val1222Ala) c.3671T>C (p.Val1224Ala) | dbSNP |
| 8 | g.115414216A>T | CA372062198 | TRPS1 | c.3692T>A (p.Val1231Glu) c.3653T>A (p.Val1218Glu) c.2915T>A (p.Val972Glu) c.3665T>A (p.Val1222Glu) c.3671T>A (p.Val1224Glu) | |
| 8 | g.115414217C>A | CA372062200 | TRPS1 | c.3691G>T (p.Val1231Leu) c.3652G>T (p.Val1218Leu) c.2914G>T (p.Val972Leu) c.3664G>T (p.Val1222Leu) c.3670G>T (p.Val1224Leu) | |
| 8 | g.115414217C= | CA1812853712 | TRPS1 | c.3691G= (p.Val1231=) c.3652G= (p.Val1218=) c.2914G= (p.Val972=) c.3664G= (p.Val1222=) c.3670G= (p.Val1224=) | |
| 8 | g.115414217C>G | CA372062201 | TRPS1 | c.3691G>C (p.Val1231Leu) c.3652G>C (p.Val1218Leu) c.2914G>C (p.Val972Leu) c.3664G>C (p.Val1222Leu) c.3670G>C (p.Val1224Leu) | |
| 8 | g.115414217C>T | CA372062202 | TRPS1 | c.3691G>A (p.Val1231Met) c.3652G>A (p.Val1218Met) c.2914G>A (p.Val972Met) c.3664G>A (p.Val1222Met) c.3670G>A (p.Val1224Met) | dbSNP |
| 8 | g.115414217_115414218insGGACAAAT | CA1812853713 | TRPS1 | c.3690_3691insATTTGTCC (p.Val1231IlefsTer14) c.3651_3652insATTTGTCC (p.Val1218IlefsTer14) c.2913_2914insATTTGTCC (p.Val972IlefsTer14) c.3663_3664insATTTGTCC (p.Val1222IlefsTer14) c.3669_3670insATTTGTCC (p.Val1224IlefsTer14) | dbSNP |
| 8 | g.115414218A>C | CA372062203 | TRPS1 | c.3690T>G (p.Cys1230Trp) c.3651T>G (p.Cys1217Trp) c.2913T>G (p.Cys971Trp) c.3663T>G (p.Cys1221Trp) c.3669T>G (p.Cys1223Trp) | |
| 8 | g.115414218A>G | CA462658185 | TRPS1 | c.3690T>C (p.Cys1230=) c.3651T>C (p.Cys1217=) c.2913T>C (p.Cys971=) c.3663T>C (p.Cys1221=) c.3669T>C (p.Cys1223=) | |
| 8 | g.115414218A>T | CA372062204 | TRPS1 | c.3690T>A (p.Cys1230Ter) c.3651T>A (p.Cys1217Ter) c.2913T>A (p.Cys971Ter) c.3663T>A (p.Cys1221Ter) c.3669T>A (p.Cys1223Ter) | |
| 8 | g.115414219C>A | CA372062205 | TRPS1 | c.3689G>T (p.Cys1230Phe) c.3650G>T (p.Cys1217Phe) c.2912G>T (p.Cys971Phe) c.3662G>T (p.Cys1221Phe) c.3668G>T (p.Cys1223Phe) | |
| 8 | g.115414219C>G | CA372062206 | TRPS1 | c.3689G>C (p.Cys1230Ser) c.3650G>C (p.Cys1217Ser) c.2912G>C (p.Cys971Ser) c.3662G>C (p.Cys1221Ser) c.3668G>C (p.Cys1223Ser) | |
| 8 | g.115414219C>T | CA372062207 | TRPS1 | c.3689G>A (p.Cys1230Tyr) c.3650G>A (p.Cys1217Tyr) c.2912G>A (p.Cys971Tyr) c.3662G>A (p.Cys1221Tyr) c.3668G>A (p.Cys1223Tyr) | |
| 8 | g.115414220A>C | CA372062208 | TRPS1 | c.3688T>G (p.Cys1230Gly) c.3649T>G (p.Cys1217Gly) c.2911T>G (p.Cys971Gly) c.3661T>G (p.Cys1221Gly) c.3667T>G (p.Cys1223Gly) | |
| 8 | g.115414220A>G | CA372062209 | TRPS1 | c.3688T>C (p.Cys1230Arg) c.3649T>C (p.Cys1217Arg) c.2911T>C (p.Cys971Arg) c.3661T>C (p.Cys1221Arg) c.3667T>C (p.Cys1223Arg) | |
| 8 | g.115414220A>T | CA372062210 | TRPS1 | c.3688T>A (p.Cys1230Ser) c.3649T>A (p.Cys1217Ser) c.2911T>A (p.Cys971Ser) c.3661T>A (p.Cys1221Ser) c.3667T>A (p.Cys1223Ser) | |
| 8 | g.115414221T>A | CA372062212 | TRPS1 | c.3687A>T (p.Lys1229Asn) c.3648A>T (p.Lys1216Asn) c.2910A>T (p.Lys970Asn) c.3660A>T (p.Lys1220Asn) c.3666A>T (p.Lys1222Asn) | |
| 8 | g.115414221T>C | CA462658189 | TRPS1 | c.3687A>G (p.Lys1229=) c.3648A>G (p.Lys1216=) c.2910A>G (p.Lys970=) c.3660A>G (p.Lys1220=) c.3666A>G (p.Lys1222=) | |
| 8 | g.115414221T>G | CA372062211 | TRPS1 | c.3687A>C (p.Lys1229Asn) c.3648A>C (p.Lys1216Asn) c.2910A>C (p.Lys970Asn) c.3660A>C (p.Lys1220Asn) c.3666A>C (p.Lys1222Asn) | |
| 8 | g.115414222T>A | CA372062213 | TRPS1 | c.3686A>T (p.Lys1229Ile) c.3647A>T (p.Lys1216Ile) c.2909A>T (p.Lys970Ile) c.3659A>T (p.Lys1220Ile) c.3665A>T (p.Lys1222Ile) | |
| 8 | g.115414222T>C | CA372062214 | TRPS1 | c.3686A>G (p.Lys1229Arg) c.3647A>G (p.Lys1216Arg) c.2909A>G (p.Lys970Arg) c.3659A>G (p.Lys1220Arg) c.3665A>G (p.Lys1222Arg) | |
| 8 | g.115414222T>G | CA372062215 | TRPS1 | c.3686A>C (p.Lys1229Thr) c.3647A>C (p.Lys1216Thr) c.2909A>C (p.Lys970Thr) c.3659A>C (p.Lys1220Thr) c.3665A>C (p.Lys1222Thr) | |
| 8 | g.115414223T>A | CA372062216 | TRPS1 | c.3685A>T (p.Lys1229Ter) c.3646A>T (p.Lys1216Ter) c.2908A>T (p.Lys970Ter) c.3658A>T (p.Lys1220Ter) c.3664A>T (p.Lys1222Ter) | |
| 8 | g.115414223T>C | CA372062217 | TRPS1 | c.3685A>G (p.Lys1229Glu) c.3646A>G (p.Lys1216Glu) c.2908A>G (p.Lys970Glu) c.3658A>G (p.Lys1220Glu) c.3664A>G (p.Lys1222Glu) | |
| 8 | g.115414223T>G | CA372062218 | TRPS1 | c.3685A>C (p.Lys1229Gln) c.3646A>C (p.Lys1216Gln) c.2908A>C (p.Lys970Gln) c.3658A>C (p.Lys1220Gln) c.3664A>C (p.Lys1222Gln) | |
| 8 | g.115414224T>A | CA462658192 | TRPS1 | c.3684A>T (p.Thr1228=) c.3645A>T (p.Thr1215=) c.2907A>T (p.Thr969=) c.3657A>T (p.Thr1219=) c.3663A>T (p.Thr1221=) | |
| 8 | g.115414224T>C | CA462658193 | TRPS1 | c.3684A>G (p.Thr1228=) c.3645A>G (p.Thr1215=) c.2907A>G (p.Thr969=) c.3657A>G (p.Thr1219=) c.3663A>G (p.Thr1221=) | COSMIC COSMIC |
| 8 | g.115414224T>G | CA462658194 | TRPS1 | c.3684A>C (p.Thr1228=) c.3645A>C (p.Thr1215=) c.2907A>C (p.Thr969=) c.3657A>C (p.Thr1219=) c.3663A>C (p.Thr1221=) | |
| 8 | g.115414225G>A | CA372062219 | TRPS1 | c.3683C>T (p.Thr1228Ile) c.3644C>T (p.Thr1215Ile) c.2906C>T (p.Thr969Ile) c.3656C>T (p.Thr1219Ile) c.3662C>T (p.Thr1221Ile) | |
| 8 | g.115414225G>C | CA372062220 | TRPS1 | c.3683C>G (p.Thr1228Arg) c.3644C>G (p.Thr1215Arg) c.2906C>G (p.Thr969Arg) c.3656C>G (p.Thr1219Arg) c.3662C>G (p.Thr1221Arg) | |
| 8 | g.115414225G>T | CA372062221 | TRPS1 | c.3683C>A (p.Thr1228Lys) c.3644C>A (p.Thr1215Lys) c.2906C>A (p.Thr969Lys) c.3656C>A (p.Thr1219Lys) c.3662C>A (p.Thr1221Lys) | |
| 8 | g.115414226T>A | CA372062222 | TRPS1 | c.3682A>T (p.Thr1228Ser) c.3643A>T (p.Thr1215Ser) c.2905A>T (p.Thr969Ser) c.3655A>T (p.Thr1219Ser) c.3661A>T (p.Thr1221Ser) | |
| 8 | g.115414226T>C | CA372062223 | TRPS1 | c.3682A>G (p.Thr1228Ala) c.3643A>G (p.Thr1215Ala) c.2905A>G (p.Thr969Ala) c.3655A>G (p.Thr1219Ala) c.3661A>G (p.Thr1221Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414226T>G | CA372062224 | TRPS1 | c.3682A>C (p.Thr1228Pro) c.3643A>C (p.Thr1215Pro) c.2905A>C (p.Thr969Pro) c.3655A>C (p.Thr1219Pro) c.3661A>C (p.Thr1221Pro) | |
| 8 | g.115414226T= | CA1812853714 | TRPS1 | c.3682A= (p.Thr1228=) c.3643A= (p.Thr1215=) c.2905A= (p.Thr969=) c.3655A= (p.Thr1219=) c.3661A= (p.Thr1221=) | |
| 8 | g.115414227T>A | CA462658199 | TRPS1 | c.3681A>T (p.Ser1227=) c.3642A>T (p.Ser1214=) c.2904A>T (p.Ser968=) c.3654A>T (p.Ser1218=) c.3660A>T (p.Ser1220=) | |
| 8 | g.115414227T>C | CA462658200 | TRPS1 | c.3681A>G (p.Ser1227=) c.3642A>G (p.Ser1214=) c.2904A>G (p.Ser968=) c.3654A>G (p.Ser1218=) c.3660A>G (p.Ser1220=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414227T>G | CA462658201 | TRPS1 | c.3681A>C (p.Ser1227=) c.3642A>C (p.Ser1214=) c.2904A>C (p.Ser968=) c.3654A>C (p.Ser1218=) c.3660A>C (p.Ser1220=) | |
| 8 | g.115414227T= | CA1812853715 | TRPS1 | c.3681A= (p.Ser1227=) c.3642A= (p.Ser1214=) c.2904A= (p.Ser968=) c.3654A= (p.Ser1218=) c.3660A= (p.Ser1220=) | |
| 8 | g.115414228G>A | CA372062226 | TRPS1 | c.3680C>T (p.Ser1227Leu) c.3641C>T (p.Ser1214Leu) c.2903C>T (p.Ser968Leu) c.3653C>T (p.Ser1218Leu) c.3659C>T (p.Ser1220Leu) | |
| 8 | g.115414228G>C | CA372062227 | TRPS1 | c.3680C>G (p.Ser1227Ter) c.3641C>G (p.Ser1214Ter) c.2903C>G (p.Ser968Ter) c.3653C>G (p.Ser1218Ter) c.3659C>G (p.Ser1220Ter) | |
| 8 | g.115414228G>T | CA372062225 | TRPS1 | c.3680C>A (p.Ser1227Ter) c.3641C>A (p.Ser1214Ter) c.2903C>A (p.Ser968Ter) c.3653C>A (p.Ser1218Ter) c.3659C>A (p.Ser1220Ter) | |
| 8 | g.115414229A>C | CA372062228 | TRPS1 | c.3679T>G (p.Ser1227Ala) c.3640T>G (p.Ser1214Ala) c.2902T>G (p.Ser968Ala) c.3652T>G (p.Ser1218Ala) c.3658T>G (p.Ser1220Ala) | |
| 8 | g.115414229A>G | CA372062229 | TRPS1 | c.3679T>C (p.Ser1227Pro) c.3640T>C (p.Ser1214Pro) c.2902T>C (p.Ser968Pro) c.3652T>C (p.Ser1218Pro) c.3658T>C (p.Ser1220Pro) | |
| 8 | g.115414229A>T | CA372062230 | TRPS1 | c.3679T>A (p.Ser1227Thr) c.3640T>A (p.Ser1214Thr) c.2902T>A (p.Ser968Thr) c.3652T>A (p.Ser1218Thr) c.3658T>A (p.Ser1220Thr) | |
| 8 | g.115414230A>C | CA462658205 | TRPS1 | c.3678T>G (p.Leu1226=) c.3639T>G (p.Leu1213=) c.2901T>G (p.Leu967=) c.3651T>G (p.Leu1217=) c.3657T>G (p.Leu1219=) | |
| 8 | g.115414230A>G | CA462658208 | TRPS1 | c.3678T>C (p.Leu1226=) c.3639T>C (p.Leu1213=) c.2901T>C (p.Leu967=) c.3651T>C (p.Leu1217=) c.3657T>C (p.Leu1219=) | |
| 8 | g.115414230A>T | CA462658206 | TRPS1 | c.3678T>A (p.Leu1226=) c.3639T>A (p.Leu1213=) c.2901T>A (p.Leu967=) c.3651T>A (p.Leu1217=) c.3657T>A (p.Leu1219=) | |
| 8 | g.115414231A>C | CA372062231 | TRPS1 | c.3677T>G (p.Leu1226Arg) c.3638T>G (p.Leu1213Arg) c.2900T>G (p.Leu967Arg) c.3650T>G (p.Leu1217Arg) c.3656T>G (p.Leu1219Arg) | COSMIC COSMIC |
| 8 | g.115414231A>G | CA372062232 | TRPS1 | c.3677T>C (p.Leu1226Pro) c.3638T>C (p.Leu1213Pro) c.2900T>C (p.Leu967Pro) c.3650T>C (p.Leu1217Pro) c.3656T>C (p.Leu1219Pro) | |
| 8 | g.115414231A>T | CA372062233 | TRPS1 | c.3677T>A (p.Leu1226His) c.3638T>A (p.Leu1213His) c.2900T>A (p.Leu967His) c.3650T>A (p.Leu1217His) c.3656T>A (p.Leu1219His) | |
| 8 | g.115414232G>A | CA372062234 | TRPS1 | c.3676C>T (p.Leu1226Phe) c.3637C>T (p.Leu1213Phe) c.2899C>T (p.Leu967Phe) c.3649C>T (p.Leu1217Phe) c.3655C>T (p.Leu1219Phe) | gnomAD v4 |
| 8 | g.115414232G>C | CA372062235 | TRPS1 | c.3676C>G (p.Leu1226Val) c.3637C>G (p.Leu1213Val) c.2899C>G (p.Leu967Val) c.3649C>G (p.Leu1217Val) c.3655C>G (p.Leu1219Val) | |
| 8 | g.115414232G>T | CA372062236 | TRPS1 | c.3676C>A (p.Leu1226Ile) c.3637C>A (p.Leu1213Ile) c.2899C>A (p.Leu967Ile) c.3649C>A (p.Leu1217Ile) c.3655C>A (p.Leu1219Ile) | |
| 8 | g.115414233T>A | CA372062237 | TRPS1 | c.3675A>T (p.Glu1225Asp) c.3636A>T (p.Glu1212Asp) c.2898A>T (p.Glu966Asp) c.3648A>T (p.Glu1216Asp) c.3654A>T (p.Glu1218Asp) | |
| 8 | g.115414233T>C | CA4851456 | TRPS1 | c.3675A>G (p.Glu1225=) c.3636A>G (p.Glu1212=) c.2898A>G (p.Glu966=) c.3648A>G (p.Glu1216=) c.3654A>G (p.Glu1218=) | dbSNP ExAC gnomAD v2 |
| 8 | g.115414233T>G | CA372062238 | TRPS1 | c.3675A>C (p.Glu1225Asp) c.3636A>C (p.Glu1212Asp) c.2898A>C (p.Glu966Asp) c.3648A>C (p.Glu1216Asp) c.3654A>C (p.Glu1218Asp) | |
| 8 | g.115414233T= | CA1812853716 | TRPS1 | c.3675A= (p.Glu1225=) c.3636A= (p.Glu1212=) c.2898A= (p.Glu966=) c.3648A= (p.Glu1216=) c.3654A= (p.Glu1218=) | |
| 8 | g.115414234T>A | CA372062240 | TRPS1 | c.3674A>T (p.Glu1225Val) c.3635A>T (p.Glu1212Val) c.2897A>T (p.Glu966Val) c.3647A>T (p.Glu1216Val) c.3653A>T (p.Glu1218Val) | |
| 8 | g.115414234T>C | CA372062241 | TRPS1 | c.3674A>G (p.Glu1225Gly) c.3635A>G (p.Glu1212Gly) c.2897A>G (p.Glu966Gly) c.3647A>G (p.Glu1216Gly) c.3653A>G (p.Glu1218Gly) | |
| 8 | g.115414234T>G | CA372062239 | TRPS1 | c.3674A>C (p.Glu1225Ala) c.3635A>C (p.Glu1212Ala) c.2897A>C (p.Glu966Ala) c.3647A>C (p.Glu1216Ala) c.3653A>C (p.Glu1218Ala) | |
| 8 | g.115414235C>A | CA372062242 | TRPS1 | c.3673G>T (p.Glu1225Ter) c.3634G>T (p.Glu1212Ter) c.2896G>T (p.Glu966Ter) c.3646G>T (p.Glu1216Ter) c.3652G>T (p.Glu1218Ter) | |
| 8 | g.115414235C>G | CA372062243 | TRPS1 | c.3673G>C (p.Glu1225Gln) c.3634G>C (p.Glu1212Gln) c.2896G>C (p.Glu966Gln) c.3646G>C (p.Glu1216Gln) c.3652G>C (p.Glu1218Gln) | |
| 8 | g.115414235C>T | CA372062244 | TRPS1 | c.3673G>A (p.Glu1225Lys) c.3634G>A (p.Glu1212Lys) c.2896G>A (p.Glu966Lys) c.3646G>A (p.Glu1216Lys) c.3652G>A (p.Glu1218Lys) | |
| 8 | g.115414236A= | CA1812853717 | TRPS1 | c.3672T= (p.Asp1224=) c.3633T= (p.Asp1211=) c.2895T= (p.Asp965=) c.3645T= (p.Asp1215=) c.3651T= (p.Asp1217=) | |
| 8 | g.115414236A>C | CA372062245 | TRPS1 | c.3672T>G (p.Asp1224Glu) c.3633T>G (p.Asp1211Glu) c.2895T>G (p.Asp965Glu) c.3645T>G (p.Asp1215Glu) c.3651T>G (p.Asp1217Glu) | |
| 8 | g.115414236A>G | CA462658216 | TRPS1 | c.3672T>C (p.Asp1224=) c.3633T>C (p.Asp1211=) c.2895T>C (p.Asp965=) c.3645T>C (p.Asp1215=) c.3651T>C (p.Asp1217=) | |
| 8 | g.115414236A>T | CA184469315 | TRPS1 | c.3672T>A (p.Asp1224Glu) c.3633T>A (p.Asp1211Glu) c.2895T>A (p.Asp965Glu) c.3645T>A (p.Asp1215Glu) c.3651T>A (p.Asp1217Glu) | dbSNP |
| 8 | g.115414237T>A | CA372062247 | TRPS1 | c.3671A>T (p.Asp1224Val) c.3632A>T (p.Asp1211Val) c.2894A>T (p.Asp965Val) c.3644A>T (p.Asp1215Val) c.3650A>T (p.Asp1217Val) | |
| 8 | g.115414237T>C | CA372062246 | TRPS1 | c.3671A>G (p.Asp1224Gly) c.3632A>G (p.Asp1211Gly) c.2894A>G (p.Asp965Gly) c.3644A>G (p.Asp1215Gly) c.3650A>G (p.Asp1217Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414237T>G | CA4851457 | TRPS1 | c.3671A>C (p.Asp1224Ala) c.3632A>C (p.Asp1211Ala) c.2894A>C (p.Asp965Ala) c.3644A>C (p.Asp1215Ala) c.3650A>C (p.Asp1217Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414237T= | CA1812853718 | TRPS1 | c.3671A= (p.Asp1224=) c.3632A= (p.Asp1211=) c.2894A= (p.Asp965=) c.3644A= (p.Asp1215=) c.3650A= (p.Asp1217=) | |
| 8 | g.115414238C>A | CA372062248 | TRPS1 | c.3670G>T (p.Asp1224Tyr) c.3631G>T (p.Asp1211Tyr) c.2893G>T (p.Asp965Tyr) c.3643G>T (p.Asp1215Tyr) c.3649G>T (p.Asp1217Tyr) | |
| 8 | g.115414238C>G | CA372062249 | TRPS1 | c.3670G>C (p.Asp1224His) c.3631G>C (p.Asp1211His) c.2893G>C (p.Asp965His) c.3643G>C (p.Asp1215His) c.3649G>C (p.Asp1217His) | |
| 8 | g.115414238C>T | CA372062250 | TRPS1 | c.3670G>A (p.Asp1224Asn) c.3631G>A (p.Asp1211Asn) c.2893G>A (p.Asp965Asn) c.3643G>A (p.Asp1215Asn) c.3649G>A (p.Asp1217Asn) | |
| 8 | g.115414239T>A | CA372062251 | TRPS1 | c.3669A>T (p.Gln1223His) c.3630A>T (p.Gln1210His) c.2892A>T (p.Gln964His) c.3642A>T (p.Gln1214His) c.3648A>T (p.Gln1216His) | |
| 8 | g.115414239T>C | CA4851458 | TRPS1 | c.3669A>G (p.Gln1223=) c.3630A>G (p.Gln1210=) c.2892A>G (p.Gln964=) c.3642A>G (p.Gln1214=) c.3648A>G (p.Gln1216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414239T>G | CA372062252 | TRPS1 | c.3669A>C (p.Gln1223His) c.3630A>C (p.Gln1210His) c.2892A>C (p.Gln964His) c.3642A>C (p.Gln1214His) c.3648A>C (p.Gln1216His) | |
| 8 | g.115414239T= | CA1812853719 | TRPS1 | c.3669A= (p.Gln1223=) c.3630A= (p.Gln1210=) c.2892A= (p.Gln964=) c.3642A= (p.Gln1214=) c.3648A= (p.Gln1216=) | |
| 8 | g.115414240T>A | CA372062254 | TRPS1 | c.3668A>T (p.Gln1223Leu) c.3629A>T (p.Gln1210Leu) c.2891A>T (p.Gln964Leu) c.3641A>T (p.Gln1214Leu) c.3647A>T (p.Gln1216Leu) | |
| 8 | g.115414240T>C | CA372062255 | TRPS1 | c.3668A>G (p.Gln1223Arg) c.3629A>G (p.Gln1210Arg) c.2891A>G (p.Gln964Arg) c.3641A>G (p.Gln1214Arg) c.3647A>G (p.Gln1216Arg) | |
| 8 | g.115414240T>G | CA372062253 | TRPS1 | c.3668A>C (p.Gln1223Pro) c.3629A>C (p.Gln1210Pro) c.2891A>C (p.Gln964Pro) c.3641A>C (p.Gln1214Pro) c.3647A>C (p.Gln1216Pro) | |
| 8 | g.115414241G>A | CA372062256 | TRPS1 | c.3667C>T (p.Gln1223Ter) c.3628C>T (p.Gln1210Ter) c.2890C>T (p.Gln964Ter) c.3640C>T (p.Gln1214Ter) c.3646C>T (p.Gln1216Ter) | |
| 8 | g.115414241G>C | CA4851459 | TRPS1 | c.3667C>G (p.Gln1223Glu) c.3628C>G (p.Gln1210Glu) c.2890C>G (p.Gln964Glu) c.3640C>G (p.Gln1214Glu) c.3646C>G (p.Gln1216Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414241G= | CA1812853720 | TRPS1 | c.3667C= (p.Gln1223=) c.3628C= (p.Gln1210=) c.2890C= (p.Gln964=) c.3640C= (p.Gln1214=) c.3646C= (p.Gln1216=) | |
| 8 | g.115414241G>T | CA372062257 | TRPS1 | c.3667C>A (p.Gln1223Lys) c.3628C>A (p.Gln1210Lys) c.2890C>A (p.Gln964Lys) c.3640C>A (p.Gln1214Lys) c.3646C>A (p.Gln1216Lys) | |
| 8 | g.115414242A>C | CA462658219 | TRPS1 | c.3666T>G (p.Thr1222=) c.3627T>G (p.Thr1209=) c.2889T>G (p.Thr963=) c.3639T>G (p.Thr1213=) c.3645T>G (p.Thr1215=) | |
| 8 | g.115414242A>G | CA462658220 | TRPS1 | c.3666T>C (p.Thr1222=) c.3627T>C (p.Thr1209=) c.2889T>C (p.Thr963=) c.3639T>C (p.Thr1213=) c.3645T>C (p.Thr1215=) | COSMIC COSMIC |
| 8 | g.115414242A>T | CA462658221 | TRPS1 | c.3666T>A (p.Thr1222=) c.3627T>A (p.Thr1209=) c.2889T>A (p.Thr963=) c.3639T>A (p.Thr1213=) c.3645T>A (p.Thr1215=) | |
| 8 | g.115414243G>A | CA372062258 | TRPS1 | c.3665C>T (p.Thr1222Ile) c.3626C>T (p.Thr1209Ile) c.2888C>T (p.Thr963Ile) c.3638C>T (p.Thr1213Ile) c.3644C>T (p.Thr1215Ile) | |
| 8 | g.115414243G>C | CA372062260 | TRPS1 | c.3665C>G (p.Thr1222Ser) c.3626C>G (p.Thr1209Ser) c.2888C>G (p.Thr963Ser) c.3638C>G (p.Thr1213Ser) c.3644C>G (p.Thr1215Ser) | |
| 8 | g.115414243G>T | CA372062259 | TRPS1 | c.3665C>A (p.Thr1222Asn) c.3626C>A (p.Thr1209Asn) c.2888C>A (p.Thr963Asn) c.3638C>A (p.Thr1213Asn) c.3644C>A (p.Thr1215Asn) | |
| 8 | g.115414244T>A | CA372062261 | TRPS1 | c.3664A>T (p.Thr1222Ser) c.3625A>T (p.Thr1209Ser) c.2887A>T (p.Thr963Ser) c.3637A>T (p.Thr1213Ser) c.3643A>T (p.Thr1215Ser) | COSMIC COSMIC |
| 8 | g.115414244T>C | CA372062263 | TRPS1 | c.3664A>G (p.Thr1222Ala) c.3625A>G (p.Thr1209Ala) c.2887A>G (p.Thr963Ala) c.3637A>G (p.Thr1213Ala) c.3643A>G (p.Thr1215Ala) | |
| 8 | g.115414244T>G | CA372062262 | TRPS1 | c.3664A>C (p.Thr1222Pro) c.3625A>C (p.Thr1209Pro) c.2887A>C (p.Thr963Pro) c.3637A>C (p.Thr1213Pro) c.3643A>C (p.Thr1215Pro) | |
| 8 | g.115414245A>C | CA372062264 | TRPS1 | c.3663T>G (p.Ser1221Arg) c.3624T>G (p.Ser1208Arg) c.2886T>G (p.Ser962Arg) c.3636T>G (p.Ser1212Arg) c.3642T>G (p.Ser1214Arg) | |
| 8 | g.115414245A>G | CA462658223 | TRPS1 | c.3663T>C (p.Ser1221=) c.3624T>C (p.Ser1208=) c.2886T>C (p.Ser962=) c.3636T>C (p.Ser1212=) c.3642T>C (p.Ser1214=) | gnomAD v4 |
| 8 | g.115414245A>T | CA372062265 | TRPS1 | c.3663T>A (p.Ser1221Arg) c.3624T>A (p.Ser1208Arg) c.2886T>A (p.Ser962Arg) c.3636T>A (p.Ser1212Arg) c.3642T>A (p.Ser1214Arg) | |
| 8 | g.115414246C>A | CA372062266 | TRPS1 | c.3662G>T (p.Ser1221Ile) c.3623G>T (p.Ser1208Ile) c.2885G>T (p.Ser962Ile) c.3635G>T (p.Ser1212Ile) c.3641G>T (p.Ser1214Ile) | |
| 8 | g.115414246C= | CA1812853721 | TRPS1 | c.3662G= (p.Ser1221=) c.3623G= (p.Ser1208=) c.2885G= (p.Ser962=) c.3635G= (p.Ser1212=) c.3641G= (p.Ser1214=) | |
| 8 | g.115414246C>G | CA372062267 | TRPS1 | c.3662G>C (p.Ser1221Thr) c.3623G>C (p.Ser1208Thr) c.2885G>C (p.Ser962Thr) c.3635G>C (p.Ser1212Thr) c.3641G>C (p.Ser1214Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414246C>T | CA372062268 | TRPS1 | c.3662G>A (p.Ser1221Asn) c.3623G>A (p.Ser1208Asn) c.2885G>A (p.Ser962Asn) c.3635G>A (p.Ser1212Asn) c.3641G>A (p.Ser1214Asn) | |
| 8 | g.115414247T>A | CA372062269 | TRPS1 | c.3661A>T (p.Ser1221Cys) c.3622A>T (p.Ser1208Cys) c.2884A>T (p.Ser962Cys) c.3634A>T (p.Ser1212Cys) c.3640A>T (p.Ser1214Cys) | |
| 8 | g.115414247T>C | CA372062270 | TRPS1 | c.3661A>G (p.Ser1221Gly) c.3622A>G (p.Ser1208Gly) c.2884A>G (p.Ser962Gly) c.3634A>G (p.Ser1212Gly) c.3640A>G (p.Ser1214Gly) | |
| 8 | g.115414247T>G | CA372062271 | TRPS1 | c.3661A>C (p.Ser1221Arg) c.3622A>C (p.Ser1208Arg) c.2884A>C (p.Ser962Arg) c.3634A>C (p.Ser1212Arg) c.3640A>C (p.Ser1214Arg) | |
| 8 | g.115414248T>A | CA372062272 | TRPS1 | c.3660A>T (p.Arg1220Ser) c.3621A>T (p.Arg1207Ser) c.2883A>T (p.Arg961Ser) c.3633A>T (p.Arg1211Ser) c.3639A>T (p.Arg1213Ser) | |
| 8 | g.115414248T>C | CA462658224 | TRPS1 | c.3660A>G (p.Arg1220=) c.3621A>G (p.Arg1207=) c.2883A>G (p.Arg961=) c.3633A>G (p.Arg1211=) c.3639A>G (p.Arg1213=) | |
| 8 | g.115414248T>G | CA372062273 | TRPS1 | c.3660A>C (p.Arg1220Ser) c.3621A>C (p.Arg1207Ser) c.2883A>C (p.Arg961Ser) c.3633A>C (p.Arg1211Ser) c.3639A>C (p.Arg1213Ser) | |
| 8 | g.115414249del | CA2580611886 | TRPS1 | c.3659del (p.Arg1220LysfsTer22) c.3620del (p.Arg1207LysfsTer22) c.2882del (p.Arg961LysfsTer22) c.3632del (p.Arg1211LysfsTer22) c.3638del (p.Arg1213LysfsTer22) | ClinVar |
| 8 | g.115414249C>A | CA372062274 | TRPS1 | c.3659G>T (p.Arg1220Ile) c.3620G>T (p.Arg1207Ile) c.2882G>T (p.Arg961Ile) c.3632G>T (p.Arg1211Ile) c.3638G>T (p.Arg1213Ile) | |
| 8 | g.115414249C>G | CA372062275 | TRPS1 | c.3659G>C (p.Arg1220Thr) c.3620G>C (p.Arg1207Thr) c.2882G>C (p.Arg961Thr) c.3632G>C (p.Arg1211Thr) c.3638G>C (p.Arg1213Thr) | |
| 8 | g.115414249C>T | CA372062276 | TRPS1 | c.3659G>A (p.Arg1220Lys) c.3620G>A (p.Arg1207Lys) c.2882G>A (p.Arg961Lys) c.3632G>A (p.Arg1211Lys) c.3638G>A (p.Arg1213Lys) | COSMIC COSMIC |
| 8 | g.115414250T>A | CA372062278 | TRPS1 | c.3658A>T (p.Arg1220Ter) c.3619A>T (p.Arg1207Ter) c.2881A>T (p.Arg961Ter) c.3631A>T (p.Arg1211Ter) c.3637A>T (p.Arg1213Ter) | |
| 8 | g.115414250T>C | CA372062277 | TRPS1 | c.3658A>G (p.Arg1220Gly) c.3619A>G (p.Arg1207Gly) c.2881A>G (p.Arg961Gly) c.3631A>G (p.Arg1211Gly) c.3637A>G (p.Arg1213Gly) | gnomAD v4 |
| 8 | g.115414250T>G | CA462658226 | TRPS1 | c.3658A>C (p.Arg1220=) c.3619A>C (p.Arg1207=) c.2881A>C (p.Arg961=) c.3631A>C (p.Arg1211=) c.3637A>C (p.Arg1213=) | |
| 8 | g.115414251A>C | CA372062279 | TRPS1 | c.3657T>G (p.Asp1219Glu) c.3618T>G (p.Asp1206Glu) c.2880T>G (p.Asp960Glu) c.3630T>G (p.Asp1210Glu) c.3636T>G (p.Asp1212Glu) | |
| 8 | g.115414251A>G | CA462658227 | TRPS1 | c.3657T>C (p.Asp1219=) c.3618T>C (p.Asp1206=) c.2880T>C (p.Asp960=) c.3630T>C (p.Asp1210=) c.3636T>C (p.Asp1212=) | gnomAD v4 |
| 8 | g.115414251A>T | CA372062280 | TRPS1 | c.3657T>A (p.Asp1219Glu) c.3618T>A (p.Asp1206Glu) c.2880T>A (p.Asp960Glu) c.3630T>A (p.Asp1210Glu) c.3636T>A (p.Asp1212Glu) | |
| 8 | g.115414252T>A | CA372062281 | TRPS1 | c.3656A>T (p.Asp1219Val) c.3617A>T (p.Asp1206Val) c.2879A>T (p.Asp960Val) c.3629A>T (p.Asp1210Val) c.3635A>T (p.Asp1212Val) | gnomAD v4 |
| 8 | g.115414252T>C | CA372062282 | TRPS1 | c.3656A>G (p.Asp1219Gly) c.3617A>G (p.Asp1206Gly) c.2879A>G (p.Asp960Gly) c.3629A>G (p.Asp1210Gly) c.3635A>G (p.Asp1212Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414252T>G | CA372062283 | TRPS1 | c.3656A>C (p.Asp1219Ala) c.3617A>C (p.Asp1206Ala) c.2879A>C (p.Asp960Ala) c.3629A>C (p.Asp1210Ala) c.3635A>C (p.Asp1212Ala) | |
| 8 | g.115414252T= | CA1812853722 | TRPS1 | c.3656A= (p.Asp1219=) c.3617A= (p.Asp1206=) c.2879A= (p.Asp960=) c.3629A= (p.Asp1210=) c.3635A= (p.Asp1212=) | |
| 8 | g.115414253C>A | CA372062284 | TRPS1 | c.3655G>T (p.Asp1219Tyr) c.3616G>T (p.Asp1206Tyr) c.2878G>T (p.Asp960Tyr) c.3628G>T (p.Asp1210Tyr) c.3634G>T (p.Asp1212Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414253C= | CA1812853723 | TRPS1 | c.3655G= (p.Asp1219=) c.3616G= (p.Asp1206=) c.2878G= (p.Asp960=) c.3628G= (p.Asp1210=) c.3634G= (p.Asp1212=) | |
| 8 | g.115414253C>G | CA372062285 | TRPS1 | c.3655G>C (p.Asp1219His) c.3616G>C (p.Asp1206His) c.2878G>C (p.Asp960His) c.3628G>C (p.Asp1210His) c.3634G>C (p.Asp1212His) | |
| 8 | g.115414253C>T | CA372062286 | TRPS1 | c.3655G>A (p.Asp1219Asn) c.3616G>A (p.Asp1206Asn) c.2878G>A (p.Asp960Asn) c.3628G>A (p.Asp1210Asn) c.3634G>A (p.Asp1212Asn) | |
| 8 | g.115414254A>C | CA462658232 | TRPS1 | c.3654T>G (p.Val1218=) c.3615T>G (p.Val1205=) c.2877T>G (p.Val959=) c.3627T>G (p.Val1209=) c.3633T>G (p.Val1211=) | |
| 8 | g.115414254A>G | CA462658231 | TRPS1 | c.3654T>C (p.Val1218=) c.3615T>C (p.Val1205=) c.2877T>C (p.Val959=) c.3627T>C (p.Val1209=) c.3633T>C (p.Val1211=) | |
| 8 | g.115414254A>T | CA462658230 | TRPS1 | c.3654T>A (p.Val1218=) c.3615T>A (p.Val1205=) c.2877T>A (p.Val959=) c.3627T>A (p.Val1209=) c.3633T>A (p.Val1211=) | |
| 8 | g.115414255A= | CA1812853724 | TRPS1 | c.3653T= (p.Val1218=) c.3614T= (p.Val1205=) c.2876T= (p.Val959=) c.3626T= (p.Val1209=) c.3632T= (p.Val1211=) | |
| 8 | g.115414255A>C | CA372062287 | TRPS1 | c.3653T>G (p.Val1218Gly) c.3614T>G (p.Val1205Gly) c.2876T>G (p.Val959Gly) c.3626T>G (p.Val1209Gly) c.3632T>G (p.Val1211Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414255A>G | CA372062288 | TRPS1 | c.3653T>C (p.Val1218Ala) c.3614T>C (p.Val1205Ala) c.2876T>C (p.Val959Ala) c.3626T>C (p.Val1209Ala) c.3632T>C (p.Val1211Ala) | |
| 8 | g.115414255A>T | CA372062289 | TRPS1 | c.3653T>A (p.Val1218Asp) c.3614T>A (p.Val1205Asp) c.2876T>A (p.Val959Asp) c.3626T>A (p.Val1209Asp) c.3632T>A (p.Val1211Asp) | |
| 8 | g.115414256C>A | CA372062291 | TRPS1 | c.3652G>T (p.Val1218Phe) c.3613G>T (p.Val1205Phe) c.2875G>T (p.Val959Phe) c.3625G>T (p.Val1209Phe) c.3631G>T (p.Val1211Phe) | gnomAD v4 |
| 8 | g.115414256C>G | CA372062292 | TRPS1 | c.3652G>C (p.Val1218Leu) c.3613G>C (p.Val1205Leu) c.2875G>C (p.Val959Leu) c.3625G>C (p.Val1209Leu) c.3631G>C (p.Val1211Leu) | |
| 8 | g.115414256C>T | CA372062290 | TRPS1 | c.3652G>A (p.Val1218Ile) c.3613G>A (p.Val1205Ile) c.2875G>A (p.Val959Ile) c.3625G>A (p.Val1209Ile) c.3631G>A (p.Val1211Ile) | |
| 8 | g.115414257T>A | CA372062293 | TRPS1 | c.3651A>T (p.Lys1217Asn) c.3612A>T (p.Lys1204Asn) c.2874A>T (p.Lys958Asn) c.3624A>T (p.Lys1208Asn) c.3630A>T (p.Lys1210Asn) | |
| 8 | g.115414257T>C | CA462658237 | TRPS1 | c.3651A>G (p.Lys1217=) c.3612A>G (p.Lys1204=) c.2874A>G (p.Lys958=) c.3624A>G (p.Lys1208=) c.3630A>G (p.Lys1210=) | |
| 8 | g.115414257T>G | CA372062294 | TRPS1 | c.3651A>C (p.Lys1217Asn) c.3612A>C (p.Lys1204Asn) c.2874A>C (p.Lys958Asn) c.3624A>C (p.Lys1208Asn) c.3630A>C (p.Lys1210Asn) | |
| 8 | g.115414258T>A | CA372062295 | TRPS1 | c.3650A>T (p.Lys1217Ile) c.3611A>T (p.Lys1204Ile) c.2873A>T (p.Lys958Ile) c.3623A>T (p.Lys1208Ile) c.3629A>T (p.Lys1210Ile) | |
| 8 | g.115414258T>C | CA372062296 | TRPS1 | c.3650A>G (p.Lys1217Arg) c.3611A>G (p.Lys1204Arg) c.2873A>G (p.Lys958Arg) c.3623A>G (p.Lys1208Arg) c.3629A>G (p.Lys1210Arg) | |
| 8 | g.115414258T>G | CA372062297 | TRPS1 | c.3650A>C (p.Lys1217Thr) c.3611A>C (p.Lys1204Thr) c.2873A>C (p.Lys958Thr) c.3623A>C (p.Lys1208Thr) c.3629A>C (p.Lys1210Thr) | |
| 8 | g.115414259T>A | CA372062299 | TRPS1 | c.3649A>T (p.Lys1217Ter) c.3610A>T (p.Lys1204Ter) c.2872A>T (p.Lys958Ter) c.3622A>T (p.Lys1208Ter) c.3628A>T (p.Lys1210Ter) | |
| 8 | g.115414259T>C | CA4851460 | TRPS1 | c.3649A>G (p.Lys1217Glu) c.3610A>G (p.Lys1204Glu) c.2872A>G (p.Lys958Glu) c.3622A>G (p.Lys1208Glu) c.3628A>G (p.Lys1210Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414259T>G | CA372062298 | TRPS1 | c.3649A>C (p.Lys1217Gln) c.3610A>C (p.Lys1204Gln) c.2872A>C (p.Lys958Gln) c.3622A>C (p.Lys1208Gln) c.3628A>C (p.Lys1210Gln) | |
| 8 | g.115414259T= | CA1812853725 | TRPS1 | c.3649A= (p.Lys1217=) c.3610A= (p.Lys1204=) c.2872A= (p.Lys958=) c.3622A= (p.Lys1208=) c.3628A= (p.Lys1210=) | |
| 8 | g.115414260C>A | CA372062300 | TRPS1 | c.3648G>T (p.Glu1216Asp) c.3609G>T (p.Glu1203Asp) c.2871G>T (p.Glu957Asp) c.3621G>T (p.Glu1207Asp) c.3627G>T (p.Glu1209Asp) | gnomAD v4 |
| 8 | g.115414260C>G | CA372062301 | TRPS1 | c.3648G>C (p.Glu1216Asp) c.3609G>C (p.Glu1203Asp) c.2871G>C (p.Glu957Asp) c.3621G>C (p.Glu1207Asp) c.3627G>C (p.Glu1209Asp) | |
| 8 | g.115414260C>T | CA462658239 | TRPS1 | c.3648G>A (p.Glu1216=) c.3609G>A (p.Glu1203=) c.2871G>A (p.Glu957=) c.3621G>A (p.Glu1207=) c.3627G>A (p.Glu1209=) | |
| 8 | g.115414261T>A | CA372062302 | TRPS1 | c.3647A>T (p.Glu1216Val) c.3608A>T (p.Glu1203Val) c.2870A>T (p.Glu957Val) c.3620A>T (p.Glu1207Val) c.3626A>T (p.Glu1209Val) | |
| 8 | g.115414261T>C | CA372062303 | TRPS1 | c.3647A>G (p.Glu1216Gly) c.3608A>G (p.Glu1203Gly) c.2870A>G (p.Glu957Gly) c.3620A>G (p.Glu1207Gly) c.3626A>G (p.Glu1209Gly) | |
| 8 | g.115414261T>G | CA372062304 | TRPS1 | c.3647A>C (p.Glu1216Ala) c.3608A>C (p.Glu1203Ala) c.2870A>C (p.Glu957Ala) c.3620A>C (p.Glu1207Ala) c.3626A>C (p.Glu1209Ala) | |
| 8 | g.115414262C>A | CA372062305 | TRPS1 | c.3646G>T (p.Glu1216Ter) c.3607G>T (p.Glu1203Ter) c.2869G>T (p.Glu957Ter) c.3619G>T (p.Glu1207Ter) c.3625G>T (p.Glu1209Ter) | |
| 8 | g.115414262C>G | CA372062307 | TRPS1 | c.3646G>C (p.Glu1216Gln) c.3607G>C (p.Glu1203Gln) c.2869G>C (p.Glu957Gln) c.3619G>C (p.Glu1207Gln) c.3625G>C (p.Glu1209Gln) | |
| 8 | g.115414262C>T | CA372062306 | TRPS1 | c.3646G>A (p.Glu1216Lys) c.3607G>A (p.Glu1203Lys) c.2869G>A (p.Glu957Lys) c.3619G>A (p.Glu1207Lys) c.3625G>A (p.Glu1209Lys) | |
| 8 | g.115414263T>A | CA462658241 | TRPS1 | c.3645A>T (p.Thr1215=) c.3606A>T (p.Thr1202=) c.2868A>T (p.Thr956=) c.3618A>T (p.Thr1206=) c.3624A>T (p.Thr1208=) | |
| 8 | g.115414263T>C | CA462658242 | TRPS1 | c.3645A>G (p.Thr1215=) c.3606A>G (p.Thr1202=) c.2868A>G (p.Thr956=) c.3618A>G (p.Thr1206=) c.3624A>G (p.Thr1208=) | gnomAD v4 |
| 8 | g.115414263T>G | CA462658243 | TRPS1 | c.3645A>C (p.Thr1215=) c.3606A>C (p.Thr1202=) c.2868A>C (p.Thr956=) c.3618A>C (p.Thr1206=) c.3624A>C (p.Thr1208=) | |
| 8 | g.115414264G>A | CA372062308 | TRPS1 | c.3644C>T (p.Thr1215Ile) c.3605C>T (p.Thr1202Ile) c.2867C>T (p.Thr956Ile) c.3617C>T (p.Thr1206Ile) c.3623C>T (p.Thr1208Ile) | |
| 8 | g.115414264G>C | CA372062309 | TRPS1 | c.3644C>G (p.Thr1215Arg) c.3605C>G (p.Thr1202Arg) c.2867C>G (p.Thr956Arg) c.3617C>G (p.Thr1206Arg) c.3623C>G (p.Thr1208Arg) | |
| 8 | g.115414264G>T | CA372062310 | TRPS1 | c.3644C>A (p.Thr1215Lys) c.3605C>A (p.Thr1202Lys) c.2867C>A (p.Thr956Lys) c.3617C>A (p.Thr1206Lys) c.3623C>A (p.Thr1208Lys) | |
| 8 | g.115414265T>A | CA372062311 | TRPS1 | c.3643A>T (p.Thr1215Ser) c.3604A>T (p.Thr1202Ser) c.2866A>T (p.Thr956Ser) c.3616A>T (p.Thr1206Ser) c.3622A>T (p.Thr1208Ser) | |
| 8 | g.115414265T>C | CA4851461 | TRPS1 | c.3643A>G (p.Thr1215Ala) c.3604A>G (p.Thr1202Ala) c.2866A>G (p.Thr956Ala) c.3616A>G (p.Thr1206Ala) c.3622A>G (p.Thr1208Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414265T>G | CA372062312 | TRPS1 | c.3643A>C (p.Thr1215Pro) c.3604A>C (p.Thr1202Pro) c.2866A>C (p.Thr956Pro) c.3616A>C (p.Thr1206Pro) c.3622A>C (p.Thr1208Pro) | |
| 8 | g.115414265T= | CA1812853726 | TRPS1 | c.3643A= (p.Thr1215=) c.3604A= (p.Thr1202=) c.2866A= (p.Thr956=) c.3616A= (p.Thr1206=) c.3622A= (p.Thr1208=) | |
| 8 | g.115414269del | CA2695210272 | TRPS1 | c.3643del (p.Thr1215GlnfsTer27) c.3604del (p.Thr1202GlnfsTer27) c.2866del (p.Thr956GlnfsTer27) c.3616del (p.Thr1206GlnfsTer27) c.3622del (p.Thr1208GlnfsTer27) | |
| 8 | g.115414266T>A | CA372062313 | TRPS1 | c.3642A>T (p.Lys1214Asn) c.3603A>T (p.Lys1201Asn) c.2865A>T (p.Lys955Asn) c.3615A>T (p.Lys1205Asn) c.3621A>T (p.Lys1207Asn) | |
| 8 | g.115414266T>C | CA462658247 | TRPS1 | c.3642A>G (p.Lys1214=) c.3603A>G (p.Lys1201=) c.2865A>G (p.Lys955=) c.3615A>G (p.Lys1205=) c.3621A>G (p.Lys1207=) | |
| 8 | g.115414266T>G | CA372062314 | TRPS1 | c.3642A>C (p.Lys1214Asn) c.3603A>C (p.Lys1201Asn) c.2865A>C (p.Lys955Asn) c.3615A>C (p.Lys1205Asn) c.3621A>C (p.Lys1207Asn) | |
| 8 | g.115414267T>A | CA372062315 | TRPS1 | c.3641A>T (p.Lys1214Ile) c.3602A>T (p.Lys1201Ile) c.2864A>T (p.Lys955Ile) c.3614A>T (p.Lys1205Ile) c.3620A>T (p.Lys1207Ile) | |
| 8 | g.115414267T>C | CA372062316 | TRPS1 | c.3641A>G (p.Lys1214Arg) c.3602A>G (p.Lys1201Arg) c.2864A>G (p.Lys955Arg) c.3614A>G (p.Lys1205Arg) c.3620A>G (p.Lys1207Arg) | |
| 8 | g.115414267T>G | CA372062317 | TRPS1 | c.3641A>C (p.Lys1214Thr) c.3602A>C (p.Lys1201Thr) c.2864A>C (p.Lys955Thr) c.3614A>C (p.Lys1205Thr) c.3620A>C (p.Lys1207Thr) | |
| 8 | g.115414268T>A | CA372062320 | TRPS1 | c.3640A>T (p.Lys1214Ter) c.3601A>T (p.Lys1201Ter) c.2863A>T (p.Lys955Ter) c.3613A>T (p.Lys1205Ter) c.3619A>T (p.Lys1207Ter) | |
| 8 | g.115414268T>C | CA372062319 | TRPS1 | c.3640A>G (p.Lys1214Glu) c.3601A>G (p.Lys1201Glu) c.2863A>G (p.Lys955Glu) c.3613A>G (p.Lys1205Glu) c.3619A>G (p.Lys1207Glu) | |
| 8 | g.115414268T>G | CA372062318 | TRPS1 | c.3640A>C (p.Lys1214Gln) c.3601A>C (p.Lys1201Gln) c.2863A>C (p.Lys955Gln) c.3613A>C (p.Lys1205Gln) c.3619A>C (p.Lys1207Gln) | COSMIC COSMIC |
| 8 | g.115414269T>A | CA462658249 | TRPS1 | c.3639A>T (p.Val1213=) c.3600A>T (p.Val1200=) c.2862A>T (p.Val954=) c.3612A>T (p.Val1204=) c.3618A>T (p.Val1206=) | |
| 8 | g.115414269T>C | CA462658250 | TRPS1 | c.3639A>G (p.Val1213=) c.3600A>G (p.Val1200=) c.2862A>G (p.Val954=) c.3612A>G (p.Val1204=) c.3618A>G (p.Val1206=) | dbSNP gnomAD v4 |
| 8 | g.115414269T>G | CA462658251 | TRPS1 | c.3639A>C (p.Val1213=) c.3600A>C (p.Val1200=) c.2862A>C (p.Val954=) c.3612A>C (p.Val1204=) c.3618A>C (p.Val1206=) | |
| 8 | g.115414269T= | CA1812853727 | TRPS1 | c.3639A= (p.Val1213=) c.3600A= (p.Val1200=) c.2862A= (p.Val954=) c.3612A= (p.Val1204=) c.3618A= (p.Val1206=) | |
| 8 | g.115414270A>C | CA372062321 | TRPS1 | c.3638T>G (p.Val1213Gly) c.3599T>G (p.Val1200Gly) c.2861T>G (p.Val954Gly) c.3611T>G (p.Val1204Gly) c.3617T>G (p.Val1206Gly) | |
| 8 | g.115414270A>G | CA372062323 | TRPS1 | c.3638T>C (p.Val1213Ala) c.3599T>C (p.Val1200Ala) c.2861T>C (p.Val954Ala) c.3611T>C (p.Val1204Ala) c.3617T>C (p.Val1206Ala) | |
| 8 | g.115414270A>T | CA372062322 | TRPS1 | c.3638T>A (p.Val1213Glu) c.3599T>A (p.Val1200Glu) c.2861T>A (p.Val954Glu) c.3611T>A (p.Val1204Glu) c.3617T>A (p.Val1206Glu) | |
| 8 | g.115414271C>A | CA372062324 | TRPS1 | c.3637G>T (p.Val1213Leu) c.3598G>T (p.Val1200Leu) c.2860G>T (p.Val954Leu) c.3610G>T (p.Val1204Leu) c.3616G>T (p.Val1206Leu) | |
| 8 | g.115414271C= | CA1812853728 | TRPS1 | c.3637G= (p.Val1213=) c.3598G= (p.Val1200=) c.2860G= (p.Val954=) c.3610G= (p.Val1204=) c.3616G= (p.Val1206=) | |
| 8 | g.115414271C>G | CA372062325 | TRPS1 | c.3637G>C (p.Val1213Leu) c.3598G>C (p.Val1200Leu) c.2860G>C (p.Val954Leu) c.3610G>C (p.Val1204Leu) c.3616G>C (p.Val1206Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414271C>T | CA372062326 | TRPS1 | c.3637G>A (p.Val1213Ile) c.3598G>A (p.Val1200Ile) c.2860G>A (p.Val954Ile) c.3610G>A (p.Val1204Ile) c.3616G>A (p.Val1206Ile) | |
| 8 | g.115414272T>A | CA462658253 | TRPS1 | c.3636A>T (p.Val1212=) c.3597A>T (p.Val1199=) c.2859A>T (p.Val953=) c.3609A>T (p.Val1203=) c.3615A>T (p.Val1205=) | |
| 8 | g.115414272T>C | CA462658254 | TRPS1 | c.3636A>G (p.Val1212=) c.3597A>G (p.Val1199=) c.2859A>G (p.Val953=) c.3609A>G (p.Val1203=) c.3615A>G (p.Val1205=) | |
| 8 | g.115414272T>G | CA462658255 | TRPS1 | c.3636A>C (p.Val1212=) c.3597A>C (p.Val1199=) c.2859A>C (p.Val953=) c.3609A>C (p.Val1203=) c.3615A>C (p.Val1205=) | |
| 8 | g.115414273A= | CA1812853729 | TRPS1 | c.3635T= (p.Val1212=) c.3596T= (p.Val1199=) c.2858T= (p.Val953=) c.3608T= (p.Val1203=) c.3614T= (p.Val1205=) | |
| 8 | g.115414273A>C | CA372062327 | TRPS1 | c.3635T>G (p.Val1212Gly) c.3596T>G (p.Val1199Gly) c.2858T>G (p.Val953Gly) c.3608T>G (p.Val1203Gly) c.3614T>G (p.Val1205Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414273A>G | CA372062328 | TRPS1 | c.3635T>C (p.Val1212Ala) c.3596T>C (p.Val1199Ala) c.2858T>C (p.Val953Ala) c.3608T>C (p.Val1203Ala) c.3614T>C (p.Val1205Ala) | gnomAD v4 |
| 8 | g.115414273A>T | CA372062329 | TRPS1 | c.3635T>A (p.Val1212Glu) c.3596T>A (p.Val1199Glu) c.2858T>A (p.Val953Glu) c.3608T>A (p.Val1203Glu) c.3614T>A (p.Val1205Glu) | |
| 8 | g.115414274C>A | CA372062330 | TRPS1 | c.3634G>T (p.Val1212Leu) c.3595G>T (p.Val1199Leu) c.2857G>T (p.Val953Leu) c.3607G>T (p.Val1203Leu) c.3613G>T (p.Val1205Leu) | |
| 8 | g.115414274C>G | CA372062331 | TRPS1 | c.3634G>C (p.Val1212Leu) c.3595G>C (p.Val1199Leu) c.2857G>C (p.Val953Leu) c.3607G>C (p.Val1203Leu) c.3613G>C (p.Val1205Leu) | |
| 8 | g.115414274C>T | CA372062332 | TRPS1 | c.3634G>A (p.Val1212Ile) c.3595G>A (p.Val1199Ile) c.2857G>A (p.Val953Ile) c.3607G>A (p.Val1203Ile) c.3613G>A (p.Val1205Ile) | |
| 8 | g.115414275A>C | CA372062333 | TRPS1 | c.3633T>G (p.Asn1211Lys) c.3594T>G (p.Asn1198Lys) c.2856T>G (p.Asn952Lys) c.3606T>G (p.Asn1202Lys) c.3612T>G (p.Asn1204Lys) | |
| 8 | g.115414275A>G | CA462658257 | TRPS1 | c.3633T>C (p.Asn1211=) c.3594T>C (p.Asn1198=) c.2856T>C (p.Asn952=) c.3606T>C (p.Asn1202=) c.3612T>C (p.Asn1204=) | |
| 8 | g.115414275A>T | CA372062334 | TRPS1 | c.3633T>A (p.Asn1211Lys) c.3594T>A (p.Asn1198Lys) c.2856T>A (p.Asn952Lys) c.3606T>A (p.Asn1202Lys) c.3612T>A (p.Asn1204Lys) | |
| 8 | g.115414276T>A | CA372062337 | TRPS1 | c.3632A>T (p.Asn1211Ile) c.3593A>T (p.Asn1198Ile) c.2855A>T (p.Asn952Ile) c.3605A>T (p.Asn1202Ile) c.3611A>T (p.Asn1204Ile) | dbSNP |
| 8 | g.115414276T>C | CA372062335 | TRPS1 | c.3632A>G (p.Asn1211Ser) c.3593A>G (p.Asn1198Ser) c.2855A>G (p.Asn952Ser) c.3605A>G (p.Asn1202Ser) c.3611A>G (p.Asn1204Ser) | |
| 8 | g.115414276T>G | CA372062336 | TRPS1 | c.3632A>C (p.Asn1211Thr) c.3593A>C (p.Asn1198Thr) c.2855A>C (p.Asn952Thr) c.3605A>C (p.Asn1202Thr) c.3611A>C (p.Asn1204Thr) | |
| 8 | g.115414276T= | CA1812853730 | TRPS1 | c.3632A= (p.Asn1211=) c.3593A= (p.Asn1198=) c.2855A= (p.Asn952=) c.3605A= (p.Asn1202=) c.3611A= (p.Asn1204=) | |
| 8 | g.115414277T>A | CA372062338 | TRPS1 | c.3631A>T (p.Asn1211Tyr) c.3592A>T (p.Asn1198Tyr) c.2854A>T (p.Asn952Tyr) c.3604A>T (p.Asn1202Tyr) c.3610A>T (p.Asn1204Tyr) | |
| 8 | g.115414277T>C | CA372062339 | TRPS1 | c.3631A>G (p.Asn1211Asp) c.3592A>G (p.Asn1198Asp) c.2854A>G (p.Asn952Asp) c.3604A>G (p.Asn1202Asp) c.3610A>G (p.Asn1204Asp) | |
| 8 | g.115414277T>G | CA372062340 | TRPS1 | c.3631A>C (p.Asn1211His) c.3592A>C (p.Asn1198His) c.2854A>C (p.Asn952His) c.3604A>C (p.Asn1202His) c.3610A>C (p.Asn1204His) | dbSNP |
| 8 | g.115414277T= | CA1812853731 | TRPS1 | c.3631A= (p.Asn1211=) c.3592A= (p.Asn1198=) c.2854A= (p.Asn952=) c.3604A= (p.Asn1202=) c.3610A= (p.Asn1204=) | |
| 8 | g.115414278C>A | CA372062341 | TRPS1 | c.3630G>T (p.Leu1210Phe) c.3591G>T (p.Leu1197Phe) c.2853G>T (p.Leu951Phe) c.3603G>T (p.Leu1201Phe) c.3609G>T (p.Leu1203Phe) | |
| 8 | g.115414278C>G | CA372062342 | TRPS1 | c.3630G>C (p.Leu1210Phe) c.3591G>C (p.Leu1197Phe) c.2853G>C (p.Leu951Phe) c.3603G>C (p.Leu1201Phe) c.3609G>C (p.Leu1203Phe) | gnomAD v4 |
| 8 | g.115414278C>T | CA462658258 | TRPS1 | c.3630G>A (p.Leu1210=) c.3591G>A (p.Leu1197=) c.2853G>A (p.Leu951=) c.3603G>A (p.Leu1201=) c.3609G>A (p.Leu1203=) | |
| 8 | g.115414279A>C | CA372062343 | TRPS1 | c.3629T>G (p.Leu1210Trp) c.3590T>G (p.Leu1197Trp) c.2852T>G (p.Leu951Trp) c.3602T>G (p.Leu1201Trp) c.3608T>G (p.Leu1203Trp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414279A>G | CA372062344 | TRPS1 | c.3629T>C (p.Leu1210Ser) c.3590T>C (p.Leu1197Ser) c.2852T>C (p.Leu951Ser) c.3602T>C (p.Leu1201Ser) c.3608T>C (p.Leu1203Ser) | |
| 8 | g.115414279A>T | CA372062345 | TRPS1 | c.3629T>A (p.Leu1210Ter) c.3590T>A (p.Leu1197Ter) c.2852T>A (p.Leu951Ter) c.3602T>A (p.Leu1201Ter) c.3608T>A (p.Leu1203Ter) | |
| 8 | g.115414280A>C | CA372062346 | TRPS1 | c.3628T>G (p.Leu1210Val) c.3589T>G (p.Leu1197Val) c.2851T>G (p.Leu951Val) c.3601T>G (p.Leu1201Val) c.3607T>G (p.Leu1203Val) | |
| 8 | g.115414280A>G | CA462658260 | TRPS1 | c.3628T>C (p.Leu1210=) c.3589T>C (p.Leu1197=) c.2851T>C (p.Leu951=) c.3601T>C (p.Leu1201=) c.3607T>C (p.Leu1203=) | |
| 8 | g.115414280A>T | CA372062347 | TRPS1 | c.3628T>A (p.Leu1210Met) c.3589T>A (p.Leu1197Met) c.2851T>A (p.Leu951Met) c.3601T>A (p.Leu1201Met) c.3607T>A (p.Leu1203Met) | |
| 8 | g.115414281G>A | CA462658261 | TRPS1 | c.3627C>T (p.Pro1209=) c.3588C>T (p.Pro1196=) c.2850C>T (p.Pro950=) c.3600C>T (p.Pro1200=) c.3606C>T (p.Pro1202=) | dbSNP gnomAD v4 |
| 8 | g.115414281G>C | CA462658262 | TRPS1 | c.3627C>G (p.Pro1209=) c.3588C>G (p.Pro1196=) c.2850C>G (p.Pro950=) c.3600C>G (p.Pro1200=) c.3606C>G (p.Pro1202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414281G= | CA1812853732 | TRPS1 | c.3627C= (p.Pro1209=) c.3588C= (p.Pro1196=) c.2850C= (p.Pro950=) c.3600C= (p.Pro1200=) c.3606C= (p.Pro1202=) | |
| 8 | g.115414281G>T | CA462658263 | TRPS1 | c.3627C>A (p.Pro1209=) c.3588C>A (p.Pro1196=) c.2850C>A (p.Pro950=) c.3600C>A (p.Pro1200=) c.3606C>A (p.Pro1202=) | |
| 8 | g.115414282G>A | CA372062349 | TRPS1 | c.3626C>T (p.Pro1209Leu) c.3587C>T (p.Pro1196Leu) c.2849C>T (p.Pro950Leu) c.3599C>T (p.Pro1200Leu) c.3605C>T (p.Pro1202Leu) | |
| 8 | g.115414282G>C | CA372062350 | TRPS1 | c.3626C>G (p.Pro1209Arg) c.3587C>G (p.Pro1196Arg) c.2849C>G (p.Pro950Arg) c.3599C>G (p.Pro1200Arg) c.3605C>G (p.Pro1202Arg) | |
| 8 | g.115414282G>T | CA372062348 | TRPS1 | c.3626C>A (p.Pro1209His) c.3587C>A (p.Pro1196His) c.2849C>A (p.Pro950His) c.3599C>A (p.Pro1200His) c.3605C>A (p.Pro1202His) | |
| 8 | g.115414283G>A | CA372062351 | TRPS1 | c.3625C>T (p.Pro1209Ser) c.3586C>T (p.Pro1196Ser) c.2848C>T (p.Pro950Ser) c.3598C>T (p.Pro1200Ser) c.3604C>T (p.Pro1202Ser) | gnomAD v4 |
| 8 | g.115414283G>C | CA372062352 | TRPS1 | c.3625C>G (p.Pro1209Ala) c.3586C>G (p.Pro1196Ala) c.2848C>G (p.Pro950Ala) c.3598C>G (p.Pro1200Ala) c.3604C>G (p.Pro1202Ala) | |
| 8 | g.115414283G= | CA1812853733 | TRPS1 | c.3625C= (p.Pro1209=) c.3586C= (p.Pro1196=) c.2848C= (p.Pro950=) c.3598C= (p.Pro1200=) c.3604C= (p.Pro1202=) | |
| 8 | g.115414283G>T | CA4851462 | TRPS1 | c.3625C>A (p.Pro1209Thr) c.3586C>A (p.Pro1196Thr) c.2848C>A (p.Pro950Thr) c.3598C>A (p.Pro1200Thr) c.3604C>A (p.Pro1202Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414284A= | CA1812853734 | TRPS1 | c.3624T= (p.Gly1208=) c.3585T= (p.Gly1195=) c.2847T= (p.Gly949=) c.3597T= (p.Gly1199=) c.3603T= (p.Gly1201=) | |
| 8 | g.115414284A>C | CA462658265 | TRPS1 | c.3624T>G (p.Gly1208=) c.3585T>G (p.Gly1195=) c.2847T>G (p.Gly949=) c.3597T>G (p.Gly1199=) c.3603T>G (p.Gly1201=) | |
| 8 | g.115414284A>G | CA462658266 | TRPS1 | c.3624T>C (p.Gly1208=) c.3585T>C (p.Gly1195=) c.2847T>C (p.Gly949=) c.3597T>C (p.Gly1199=) c.3603T>C (p.Gly1201=) | gnomAD v4 |
| 8 | g.115414284A>T | CA462658267 | TRPS1 | c.3624T>A (p.Gly1208=) c.3585T>A (p.Gly1195=) c.2847T>A (p.Gly949=) c.3597T>A (p.Gly1199=) c.3603T>A (p.Gly1201=) | |
| 8 | g.115414285C>A | CA372062353 | TRPS1 | c.3623G>T (p.Gly1208Val) c.3584G>T (p.Gly1195Val) c.2846G>T (p.Gly949Val) c.3596G>T (p.Gly1199Val) c.3602G>T (p.Gly1201Val) | |
| 8 | g.115414285C>G | CA372062354 | TRPS1 | c.3623G>C (p.Gly1208Ala) c.3584G>C (p.Gly1195Ala) c.2846G>C (p.Gly949Ala) c.3596G>C (p.Gly1199Ala) c.3602G>C (p.Gly1201Ala) | |
| 8 | g.115414285C>T | CA372062355 | TRPS1 | c.3623G>A (p.Gly1208Asp) c.3584G>A (p.Gly1195Asp) c.2846G>A (p.Gly949Asp) c.3596G>A (p.Gly1199Asp) c.3602G>A (p.Gly1201Asp) | |
| 8 | g.115414285_115414287dup | CA1118165826 | TRPS1 | c.3621_3623dup (p.Gly1208_Pro1209insGly) c.3582_3584dup (p.Gly1195_Pro1196insGly) c.2844_2846dup (p.Gly949_Pro950insGly) c.3594_3596dup (p.Gly1199_Pro1200insGly) c.3600_3602dup (p.Gly1201_Pro1202insGly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414286C>A | CA372062358 | TRPS1 | c.3622G>T (p.Gly1208Cys) c.3583G>T (p.Gly1195Cys) c.2845G>T (p.Gly949Cys) c.3595G>T (p.Gly1199Cys) c.3601G>T (p.Gly1201Cys) | |
| 8 | g.115414286C>G | CA372062356 | TRPS1 | c.3622G>C (p.Gly1208Arg) c.3583G>C (p.Gly1195Arg) c.2845G>C (p.Gly949Arg) c.3595G>C (p.Gly1199Arg) c.3601G>C (p.Gly1201Arg) | |
| 8 | g.115414286C>T | CA372062357 | TRPS1 | c.3622G>A (p.Gly1208Ser) c.3583G>A (p.Gly1195Ser) c.2845G>A (p.Gly949Ser) c.3595G>A (p.Gly1199Ser) c.3601G>A (p.Gly1201Ser) | |
| 8 | g.115414287T>A | CA372062359 | TRPS1 | c.3621A>T (p.Glu1207Asp) c.3582A>T (p.Glu1194Asp) c.2844A>T (p.Glu948Asp) c.3594A>T (p.Glu1198Asp) c.3600A>T (p.Glu1200Asp) | |
| 8 | g.115414287T>C | CA184469332 | TRPS1 | c.3621A>G (p.Glu1207=) c.3582A>G (p.Glu1194=) c.2844A>G (p.Glu948=) c.3594A>G (p.Glu1198=) c.3600A>G (p.Glu1200=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414287T>G | CA372062360 | TRPS1 | c.3621A>C (p.Glu1207Asp) c.3582A>C (p.Glu1194Asp) c.2844A>C (p.Glu948Asp) c.3594A>C (p.Glu1198Asp) c.3600A>C (p.Glu1200Asp) | |
| 8 | g.115414287T= | CA1812853735 | TRPS1 | c.3621A= (p.Glu1207=) c.3582A= (p.Glu1194=) c.2844A= (p.Glu948=) c.3594A= (p.Glu1198=) c.3600A= (p.Glu1200=) | |
| 8 | g.115414288T>A | CA372062361 | TRPS1 | c.3620A>T (p.Glu1207Val) c.3581A>T (p.Glu1194Val) c.2843A>T (p.Glu948Val) c.3593A>T (p.Glu1198Val) c.3599A>T (p.Glu1200Val) | |
| 8 | g.115414288T>C | CA372062362 | TRPS1 | c.3620A>G (p.Glu1207Gly) c.3581A>G (p.Glu1194Gly) c.2843A>G (p.Glu948Gly) c.3593A>G (p.Glu1198Gly) c.3599A>G (p.Glu1200Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115414288T>G | CA372062363 | TRPS1 | c.3620A>C (p.Glu1207Ala) c.3581A>C (p.Glu1194Ala) c.2843A>C (p.Glu948Ala) c.3593A>C (p.Glu1198Ala) c.3599A>C (p.Glu1200Ala) | |
| 8 | g.115414289C>A | CA372062364 | TRPS1 | c.3619G>T (p.Glu1207Ter) c.3580G>T (p.Glu1194Ter) c.2842G>T (p.Glu948Ter) c.3592G>T (p.Glu1198Ter) c.3598G>T (p.Glu1200Ter) | |
| 8 | g.115414289C>G | CA372062366 | TRPS1 | c.3619G>C (p.Glu1207Gln) c.3580G>C (p.Glu1194Gln) c.2842G>C (p.Glu948Gln) c.3592G>C (p.Glu1198Gln) c.3598G>C (p.Glu1200Gln) | |
| 8 | g.115414289C>T | CA372062365 | TRPS1 | c.3619G>A (p.Glu1207Lys) c.3580G>A (p.Glu1194Lys) c.2842G>A (p.Glu948Lys) c.3592G>A (p.Glu1198Lys) c.3598G>A (p.Glu1200Lys) | |
| 8 | g.115414289_115414290insT | CA645561861 | TRPS1 | c.3618_3619insA (p.Glu1207ArgfsTer13) c.3579_3580insA (p.Glu1194ArgfsTer13) c.2841_2842insA (p.Glu948ArgfsTer13) c.3591_3592insA (p.Glu1198ArgfsTer13) c.3597_3598insA (p.Glu1200ArgfsTer13) | COSMIC COSMIC |
| 8 | g.115414290A>C | CA372062367 | TRPS1 | c.3618T>G (p.Asn1206Lys) c.3579T>G (p.Asn1193Lys) c.2841T>G (p.Asn947Lys) c.3591T>G (p.Asn1197Lys) c.3597T>G (p.Asn1199Lys) | |
| 8 | g.115414290A>G | CA462658272 | TRPS1 | c.3618T>C (p.Asn1206=) c.3579T>C (p.Asn1193=) c.2841T>C (p.Asn947=) c.3591T>C (p.Asn1197=) c.3597T>C (p.Asn1199=) | |
| 8 | g.115414290A>T | CA372062368 | TRPS1 | c.3618T>A (p.Asn1206Lys) c.3579T>A (p.Asn1193Lys) c.2841T>A (p.Asn947Lys) c.3591T>A (p.Asn1197Lys) c.3597T>A (p.Asn1199Lys) | |
| 8 | g.115414291T>A | CA372062369 | TRPS1 | c.3617A>T (p.Asn1206Ile) c.3578A>T (p.Asn1193Ile) c.2840A>T (p.Asn947Ile) c.3590A>T (p.Asn1197Ile) c.3596A>T (p.Asn1199Ile) | gnomAD v4 |
| 8 | g.115414291T>C | CA372062370 | TRPS1 | c.3617A>G (p.Asn1206Ser) c.3578A>G (p.Asn1193Ser) c.2840A>G (p.Asn947Ser) c.3590A>G (p.Asn1197Ser) c.3596A>G (p.Asn1199Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414291T>G | CA4851463 | TRPS1 | c.3617A>C (p.Asn1206Thr) c.3578A>C (p.Asn1193Thr) c.2840A>C (p.Asn947Thr) c.3590A>C (p.Asn1197Thr) c.3596A>C (p.Asn1199Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414291T= | CA1812853736 | TRPS1 | c.3617A= (p.Asn1206=) c.3578A= (p.Asn1193=) c.2840A= (p.Asn947=) c.3590A= (p.Asn1197=) c.3596A= (p.Asn1199=) | |
| 8 | g.115414296del | CA462658274 | TRPS1 | c.3617del (p.Asn1206MetfsTer5) c.3578del (p.Asn1193MetfsTer5) c.2840del (p.Asn947MetfsTer5) c.3590del (p.Asn1197MetfsTer5) c.3596del (p.Asn1199MetfsTer5) | COSMIC COSMIC |
| 8 | g.115414292T>A | CA372062371 | TRPS1 | c.3616A>T (p.Asn1206Tyr) c.3577A>T (p.Asn1193Tyr) c.2839A>T (p.Asn947Tyr) c.3589A>T (p.Asn1197Tyr) c.3595A>T (p.Asn1199Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414292T>C | CA372062372 | TRPS1 | c.3616A>G (p.Asn1206Asp) c.3577A>G (p.Asn1193Asp) c.2839A>G (p.Asn947Asp) c.3589A>G (p.Asn1197Asp) c.3595A>G (p.Asn1199Asp) | |
| 8 | g.115414292T>G | CA372062373 | TRPS1 | c.3616A>C (p.Asn1206His) c.3577A>C (p.Asn1193His) c.2839A>C (p.Asn947His) c.3589A>C (p.Asn1197His) c.3595A>C (p.Asn1199His) | |
| 8 | g.115414292T= | CA1812853737 | TRPS1 | c.3616A= (p.Asn1206=) c.3577A= (p.Asn1193=) c.2839A= (p.Asn947=) c.3589A= (p.Asn1197=) c.3595A= (p.Asn1199=) |