Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.8090120_8090122del | CA2790351890 | TUB | c.142_144del (p.Val48del) c.307_309del (p.Val103del) c.160_162del (p.Val54del) c.268_270del (p.Val90del) c.178_180del (p.Val60del) | |
11 | g.8090119G>A | CA379562737 | TUB | c.141G>A (p.Met47Ile) c.306G>A (p.Met102Ile) c.159G>A (p.Met53Ile) c.267G>A (p.Met89Ile) c.177G>A (p.Met59Ile) | |
11 | g.8090119G>C | CA379562739 | TUB | c.141G>C (p.Met47Ile) c.306G>C (p.Met102Ile) c.159G>C (p.Met53Ile) c.267G>C (p.Met89Ile) c.177G>C (p.Met59Ile) | |
11 | g.8090119G>T | CA379562740 | TUB | c.141G>T (p.Met47Ile) c.306G>T (p.Met102Ile) c.159G>T (p.Met53Ile) c.267G>T (p.Met89Ile) c.177G>T (p.Met59Ile) | |
11 | g.8090120G>A | CA379562742 | TUB | c.142G>A (p.Val48Met) c.307G>A (p.Val103Met) c.160G>A (p.Val54Met) c.268G>A (p.Val90Met) c.178G>A (p.Val60Met) | |
11 | g.8090120G>C | CA379562745 | TUB | c.142G>C (p.Val48Leu) c.307G>C (p.Val103Leu) c.160G>C (p.Val54Leu) c.268G>C (p.Val90Leu) c.178G>C (p.Val60Leu) | |
11 | g.8090120G>T | CA379562747 | TUB | c.142G>T (p.Val48Leu) c.307G>T (p.Val103Leu) c.160G>T (p.Val54Leu) c.268G>T (p.Val90Leu) c.178G>T (p.Val60Leu) | |
11 | g.8090121T>A | CA379562751 | TUB | c.143T>A (p.Val48Glu) c.308T>A (p.Val103Glu) c.161T>A (p.Val54Glu) c.269T>A (p.Val90Glu) c.179T>A (p.Val60Glu) | |
11 | g.8090121T>C | CA5870971 | TUB | c.143T>C (p.Val48Ala) c.308T>C (p.Val103Ala) c.161T>C (p.Val54Ala) c.269T>C (p.Val90Ala) c.179T>C (p.Val60Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090121T>G | CA379562750 | TUB | c.143T>G (p.Val48Gly) c.308T>G (p.Val103Gly) c.161T>G (p.Val54Gly) c.269T>G (p.Val90Gly) c.179T>G (p.Val60Gly) | |
11 | g.8090121T= | CA1950953358 | TUB | c.143T= (p.Val48=) c.308T= (p.Val103=) c.161T= (p.Val54=) c.269T= (p.Val90=) c.179T= (p.Val60=) | |
11 | g.8090122G>A | CA473009060 | TUB | c.144G>A (p.Val48=) c.309G>A (p.Val103=) c.162G>A (p.Val54=) c.270G>A (p.Val90=) c.180G>A (p.Val60=) | |
11 | g.8090122G>C | CA473009061 | TUB | c.144G>C (p.Val48=) c.309G>C (p.Val103=) c.162G>C (p.Val54=) c.270G>C (p.Val90=) c.180G>C (p.Val60=) | |
11 | g.8090122G>T | CA473009062 | TUB | c.144G>T (p.Val48=) c.309G>T (p.Val103=) c.162G>T (p.Val54=) c.270G>T (p.Val90=) c.180G>T (p.Val60=) | |
11 | g.8090123C>A | CA379562755 | TUB | c.145C>A (p.Gln49Lys) c.310C>A (p.Gln104Lys) c.163C>A (p.Gln55Lys) c.271C>A (p.Gln91Lys) c.181C>A (p.Gln61Lys) | |
11 | g.8090123C>G | CA379562757 | TUB | c.145C>G (p.Gln49Glu) c.310C>G (p.Gln104Glu) c.163C>G (p.Gln55Glu) c.271C>G (p.Gln91Glu) c.181C>G (p.Gln61Glu) | |
11 | g.8090123C>T | CA379562759 | TUB | c.145C>T (p.Gln49Ter) c.310C>T (p.Gln104Ter) c.163C>T (p.Gln55Ter) c.271C>T (p.Gln91Ter) c.181C>T (p.Gln61Ter) | gnomAD v4 |
11 | g.8090124A>C | CA379562761 | TUB | c.146A>C (p.Gln49Pro) c.311A>C (p.Gln104Pro) c.164A>C (p.Gln55Pro) c.272A>C (p.Gln91Pro) c.182A>C (p.Gln61Pro) | |
11 | g.8090124A>G | CA379562763 | TUB | c.146A>G (p.Gln49Arg) c.311A>G (p.Gln104Arg) c.164A>G (p.Gln55Arg) c.272A>G (p.Gln91Arg) c.182A>G (p.Gln61Arg) | |
11 | g.8090124A>T | CA379562765 | TUB | c.146A>T (p.Gln49Leu) c.311A>T (p.Gln104Leu) c.164A>T (p.Gln55Leu) c.272A>T (p.Gln91Leu) c.182A>T (p.Gln61Leu) | |
11 | g.8090125G>A | CA473009063 | TUB | c.147G>A (p.Gln49=) c.312G>A (p.Gln104=) c.165G>A (p.Gln55=) c.273G>A (p.Gln91=) c.183G>A (p.Gln61=) | ClinVar gnomAD v4 |
11 | g.8090125G>C | CA379562768 | TUB | c.147G>C (p.Gln49His) c.312G>C (p.Gln104His) c.165G>C (p.Gln55His) c.273G>C (p.Gln91His) c.183G>C (p.Gln61His) | |
11 | g.8090125G>T | CA379562769 | TUB | c.147G>T (p.Gln49His) c.312G>T (p.Gln104His) c.165G>T (p.Gln55His) c.273G>T (p.Gln91His) c.183G>T (p.Gln61His) | |
11 | g.8090126G>A | CA379562771 | TUB | c.148G>A (p.Ala50Thr) c.313G>A (p.Ala105Thr) c.166G>A (p.Ala56Thr) c.274G>A (p.Ala92Thr) c.184G>A (p.Ala62Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090126G>C | CA379562773 | TUB | c.148G>C (p.Ala50Pro) c.313G>C (p.Ala105Pro) c.166G>C (p.Ala56Pro) c.274G>C (p.Ala92Pro) c.184G>C (p.Ala62Pro) | |
11 | g.8090126G= | CA1950953363 | TUB | c.148G= (p.Ala50=) c.313G= (p.Ala105=) c.166G= (p.Ala56=) c.274G= (p.Ala92=) c.184G= (p.Ala62=) | |
11 | g.8090126G>T | CA5870972 | TUB | c.148G>T (p.Ala50Ser) c.313G>T (p.Ala105Ser) c.166G>T (p.Ala56Ser) c.274G>T (p.Ala92Ser) c.184G>T (p.Ala62Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090127C>A | CA379562776 | TUB | c.149C>A (p.Ala50Asp) c.314C>A (p.Ala105Asp) c.167C>A (p.Ala56Asp) c.275C>A (p.Ala92Asp) c.185C>A (p.Ala62Asp) | |
11 | g.8090127C= | CA1950953369 | TUB | c.149C= (p.Ala50=) c.314C= (p.Ala105=) c.167C= (p.Ala56=) c.275C= (p.Ala92=) c.185C= (p.Ala62=) | |
11 | g.8090127C>G | CA379562777 | TUB | c.149C>G (p.Ala50Gly) c.314C>G (p.Ala105Gly) c.167C>G (p.Ala56Gly) c.275C>G (p.Ala92Gly) c.185C>G (p.Ala62Gly) | gnomAD v4 |
11 | g.8090127C>T | CA5870973 | TUB | c.149C>T (p.Ala50Val) c.314C>T (p.Ala105Val) c.167C>T (p.Ala56Val) c.275C>T (p.Ala92Val) c.185C>T (p.Ala62Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090128C>A | CA5870974 | TUB | c.150C>A (p.Ala50=) c.315C>A (p.Ala105=) c.168C>A (p.Ala56=) c.276C>A (p.Ala92=) c.186C>A (p.Ala62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090128C= | CA1950953375 | TUB | c.150C= (p.Ala50=) c.315C= (p.Ala105=) c.168C= (p.Ala56=) c.276C= (p.Ala92=) c.186C= (p.Ala62=) | |
11 | g.8090128C>G | CA473009064 | TUB | c.150C>G (p.Ala50=) c.315C>G (p.Ala105=) c.168C>G (p.Ala56=) c.276C>G (p.Ala92=) c.186C>G (p.Ala62=) | dbSNP |
11 | g.8090128C>T | CA473009065 | TUB | c.150C>T (p.Ala50=) c.315C>T (p.Ala105=) c.168C>T (p.Ala56=) c.276C>T (p.Ala92=) c.186C>T (p.Ala62=) | dbSNP gnomAD v4 |
11 | g.8090129A>C | CA379562783 | TUB | c.151A>C (p.Asn51His) c.316A>C (p.Asn106His) c.169A>C (p.Asn57His) c.277A>C (p.Asn93His) c.187A>C (p.Asn63His) | |
11 | g.8090129A>G | CA379562781 | TUB | c.151A>G (p.Asn51Asp) c.316A>G (p.Asn106Asp) c.169A>G (p.Asn57Asp) c.277A>G (p.Asn93Asp) c.187A>G (p.Asn63Asp) | |
11 | g.8090129A>T | CA379562784 | TUB | c.151A>T (p.Asn51Tyr) c.316A>T (p.Asn106Tyr) c.169A>T (p.Asn57Tyr) c.277A>T (p.Asn93Tyr) c.187A>T (p.Asn63Tyr) | COSMIC |
11 | g.8090130A= | CA1950953378 | TUB | c.152A= (p.Asn51=) c.317A= (p.Asn106=) c.170A= (p.Asn57=) c.278A= (p.Asn93=) c.188A= (p.Asn63=) | |
11 | g.8090130A>C | CA379562787 | TUB | c.152A>C (p.Asn51Thr) c.317A>C (p.Asn106Thr) c.170A>C (p.Asn57Thr) c.278A>C (p.Asn93Thr) c.188A>C (p.Asn63Thr) | |
11 | g.8090130A>G | CA379562790 | TUB | c.152A>G (p.Asn51Ser) c.317A>G (p.Asn106Ser) c.170A>G (p.Asn57Ser) c.278A>G (p.Asn93Ser) c.188A>G (p.Asn63Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090130A>T | CA379562789 | TUB | c.152A>T (p.Asn51Ile) c.317A>T (p.Asn106Ile) c.170A>T (p.Asn57Ile) c.278A>T (p.Asn93Ile) c.188A>T (p.Asn63Ile) | gnomAD v4 |
11 | g.8090131T>A | CA379562791 | TUB | c.153T>A (p.Asn51Lys) c.318T>A (p.Asn106Lys) c.171T>A (p.Asn57Lys) c.279T>A (p.Asn93Lys) c.189T>A (p.Asn63Lys) | |
11 | g.8090131T>C | CA473009066 | TUB | c.153T>C (p.Asn51=) c.318T>C (p.Asn106=) c.171T>C (p.Asn57=) c.279T>C (p.Asn93=) c.189T>C (p.Asn63=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090131T>G | CA5870975 | TUB | c.153T>G (p.Asn51Lys) c.318T>G (p.Asn106Lys) c.171T>G (p.Asn57Lys) c.279T>G (p.Asn93Lys) c.189T>G (p.Asn63Lys) | dbSNP ExAC gnomAD v2 |
11 | g.8090131T= | CA1950953382 | TUB | c.153T= (p.Asn51=) c.318T= (p.Asn106=) c.171T= (p.Asn57=) c.279T= (p.Asn93=) c.189T= (p.Asn63=) | |
11 | g.8090132G>A | CA379562793 | TUB | c.154G>A (p.Ala52Thr) c.319G>A (p.Ala107Thr) c.172G>A (p.Ala58Thr) c.280G>A (p.Ala94Thr) c.190G>A (p.Ala64Thr) | |
11 | g.8090132G>C | CA379562795 | TUB | c.154G>C (p.Ala52Pro) c.319G>C (p.Ala107Pro) c.172G>C (p.Ala58Pro) c.280G>C (p.Ala94Pro) c.190G>C (p.Ala64Pro) | |
11 | g.8090132G>T | CA379562796 | TUB | c.154G>T (p.Ala52Ser) c.319G>T (p.Ala107Ser) c.172G>T (p.Ala58Ser) c.280G>T (p.Ala94Ser) c.190G>T (p.Ala64Ser) | |
11 | g.8090133C>A | CA379562798 | TUB | c.155C>A (p.Ala52Glu) c.320C>A (p.Ala107Glu) c.173C>A (p.Ala58Glu) c.281C>A (p.Ala94Glu) c.191C>A (p.Ala64Glu) | |
11 | g.8090133C= | CA1950953387 | TUB | c.155C= (p.Ala52=) c.320C= (p.Ala107=) c.173C= (p.Ala58=) c.281C= (p.Ala94=) c.191C= (p.Ala64=) | |
11 | g.8090133C>G | CA379562800 | TUB | c.155C>G (p.Ala52Gly) c.320C>G (p.Ala107Gly) c.173C>G (p.Ala58Gly) c.281C>G (p.Ala94Gly) c.191C>G (p.Ala64Gly) | |
11 | g.8090133C>T | CA379562801 | TUB | c.155C>T (p.Ala52Val) c.320C>T (p.Ala107Val) c.173C>T (p.Ala58Val) c.281C>T (p.Ala94Val) c.191C>T (p.Ala64Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090134A= | CA1950953391 | TUB | c.156A= (p.Ala52=) c.321A= (p.Ala107=) c.174A= (p.Ala58=) c.282A= (p.Ala94=) c.192A= (p.Ala64=) | |
11 | g.8090134A>C | CA473009067 | TUB | c.156A>C (p.Ala52=) c.321A>C (p.Ala107=) c.174A>C (p.Ala58=) c.282A>C (p.Ala94=) c.192A>C (p.Ala64=) | gnomAD v4 |
11 | g.8090134A>G | CA473009068 | TUB | c.156A>G (p.Ala52=) c.321A>G (p.Ala107=) c.174A>G (p.Ala58=) c.282A>G (p.Ala94=) c.192A>G (p.Ala64=) | |
11 | g.8090134A>T | CA217415572 | TUB | c.156A>T (p.Ala52=) c.321A>T (p.Ala107=) c.174A>T (p.Ala58=) c.282A>T (p.Ala94=) c.192A>T (p.Ala64=) | dbSNP |
11 | g.8090135G>A | CA379562803 | TUB | c.157G>A (p.Asp53Asn) c.322G>A (p.Asp108Asn) c.175G>A (p.Asp59Asn) c.283G>A (p.Asp95Asn) c.193G>A (p.Asp65Asn) | |
11 | g.8090135G>C | CA379562805 | TUB | c.157G>C (p.Asp53His) c.322G>C (p.Asp108His) c.175G>C (p.Asp59His) c.283G>C (p.Asp95His) c.193G>C (p.Asp65His) | |
11 | g.8090135G= | CA1950953396 | TUB | c.157G= (p.Asp53=) c.322G= (p.Asp108=) c.175G= (p.Asp59=) c.283G= (p.Asp95=) c.193G= (p.Asp65=) | |
11 | g.8090135G>T | CA5870976 | TUB | c.157G>T (p.Asp53Tyr) c.322G>T (p.Asp108Tyr) c.175G>T (p.Asp59Tyr) c.283G>T (p.Asp95Tyr) c.193G>T (p.Asp65Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090136A>C | CA379562808 | TUB | c.158A>C (p.Asp53Ala) c.323A>C (p.Asp108Ala) c.176A>C (p.Asp59Ala) c.284A>C (p.Asp95Ala) c.194A>C (p.Asp65Ala) | |
11 | g.8090136A>G | CA379562809 | TUB | c.158A>G (p.Asp53Gly) c.323A>G (p.Asp108Gly) c.176A>G (p.Asp59Gly) c.284A>G (p.Asp95Gly) c.194A>G (p.Asp65Gly) | gnomAD v4 |
11 | g.8090136A>T | CA379562811 | TUB | c.158A>T (p.Asp53Val) c.323A>T (p.Asp108Val) c.176A>T (p.Asp59Val) c.284A>T (p.Asp95Val) c.194A>T (p.Asp65Val) | |
11 | g.8090137T>A | CA379562813 | TUB | c.159T>A (p.Asp53Glu) c.324T>A (p.Asp108Glu) c.177T>A (p.Asp59Glu) c.285T>A (p.Asp95Glu) c.195T>A (p.Asp65Glu) | |
11 | g.8090137T>C | CA473009069 | TUB | c.159T>C (p.Asp53=) c.324T>C (p.Asp108=) c.177T>C (p.Asp59=) c.285T>C (p.Asp95=) c.195T>C (p.Asp65=) | |
11 | g.8090137T>G | CA379562815 | TUB | c.159T>G (p.Asp53Glu) c.324T>G (p.Asp108Glu) c.177T>G (p.Asp59Glu) c.285T>G (p.Asp95Glu) c.195T>G (p.Asp65Glu) | |
11 | g.8090138G>A | CA379562818 | TUB | c.160G>A (p.Gly54Arg) c.325G>A (p.Gly109Arg) c.178G>A (p.Gly60Arg) c.286G>A (p.Gly96Arg) c.196G>A (p.Gly66Arg) | gnomAD v4 |
11 | g.8090138G>C | CA379562820 | TUB | c.160G>C (p.Gly54Arg) c.325G>C (p.Gly109Arg) c.178G>C (p.Gly60Arg) c.286G>C (p.Gly96Arg) c.196G>C (p.Gly66Arg) | |
11 | g.8090138G>T | CA379562822 | TUB | c.160G>T (p.Gly54Trp) c.325G>T (p.Gly109Trp) c.178G>T (p.Gly60Trp) c.286G>T (p.Gly96Trp) c.196G>T (p.Gly66Trp) | |
11 | g.8090138_8090153delinsGGGCGGCCCCGGAGCC | CA1950953402 | TUB | c.160_175delinsGGGCGGCCCCGGAGCC (p.Gly54=) c.325_340delinsGGGCGGCCCCGGAGCC (p.Gly109=) c.178_193delinsGGGCGGCCCCGGAGCC (p.Gly60=) c.286_301delinsGGGCGGCCCCGGAGCC (p.Gly96=) c.196_211delinsGGGCGGCCCCGGAGCC (p.Gly66=) | |
11 | g.8090139G>A | CA379562824 | TUB | c.161G>A (p.Gly54Glu) c.326G>A (p.Gly109Glu) c.179G>A (p.Gly60Glu) c.287G>A (p.Gly96Glu) c.197G>A (p.Gly66Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090139G>C | CA379562826 | TUB | c.161G>C (p.Gly54Ala) c.326G>C (p.Gly109Ala) c.179G>C (p.Gly60Ala) c.287G>C (p.Gly96Ala) c.197G>C (p.Gly66Ala) | gnomAD v4 |
11 | g.8090139G= | CA1950953406 | TUB | c.161G= (p.Gly54=) c.326G= (p.Gly109=) c.179G= (p.Gly60=) c.287G= (p.Gly96=) c.197G= (p.Gly66=) | |
11 | g.8090139G>T | CA379562828 | TUB | c.161G>T (p.Gly54Val) c.326G>T (p.Gly109Val) c.179G>T (p.Gly60Val) c.287G>T (p.Gly96Val) c.197G>T (p.Gly66Val) | gnomAD v4 |
11 | g.8090144_8090158del | CA680747440 | TUB | c.166_180del (p.Pro56_Arg60del) c.331_345del (p.Pro111_Arg115del) c.184_198del (p.Pro62_Arg66del) c.292_306del (p.Pro98_Arg102del) c.202_216del (p.Pro68_Arg72del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090140G>A | CA473009070 | TUB | c.162G>A (p.Gly54=) c.327G>A (p.Gly109=) c.180G>A (p.Gly60=) c.288G>A (p.Gly96=) c.198G>A (p.Gly66=) | |
11 | g.8090140G>C | CA473009072 | TUB | c.162G>C (p.Gly54=) c.327G>C (p.Gly109=) c.180G>C (p.Gly60=) c.288G>C (p.Gly96=) c.198G>C (p.Gly66=) | |
11 | g.8090140G>T | CA473009071 | TUB | c.162G>T (p.Gly54=) c.327G>T (p.Gly109=) c.180G>T (p.Gly60=) c.288G>T (p.Gly96=) c.198G>T (p.Gly66=) | |
11 | g.8090141C>A | CA473009073 | TUB | c.163C>A (p.Arg55=) c.328C>A (p.Arg110=) c.181C>A (p.Arg61=) c.289C>A (p.Arg97=) c.199C>A (p.Arg67=) | |
11 | g.8090141C= | CA1950953411 | TUB | c.163C= (p.Arg55=) c.328C= (p.Arg110=) c.181C= (p.Arg61=) c.289C= (p.Arg97=) c.199C= (p.Arg67=) | |
11 | g.8090141C>G | CA379562831 | TUB | c.163C>G (p.Arg55Gly) c.328C>G (p.Arg110Gly) c.181C>G (p.Arg61Gly) c.289C>G (p.Arg97Gly) c.199C>G (p.Arg67Gly) | |
11 | g.8090141C>T | CA5870977 | TUB | c.163C>T (p.Arg55Trp) c.328C>T (p.Arg110Trp) c.181C>T (p.Arg61Trp) c.289C>T (p.Arg97Trp) c.199C>T (p.Arg67Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090142G>A | CA5870978 | TUB | c.164G>A (p.Arg55Gln) c.329G>A (p.Arg110Gln) c.182G>A (p.Arg61Gln) c.290G>A (p.Arg97Gln) c.200G>A (p.Arg67Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090142G>C | CA379562836 | TUB | c.164G>C (p.Arg55Pro) c.329G>C (p.Arg110Pro) c.182G>C (p.Arg61Pro) c.290G>C (p.Arg97Pro) c.200G>C (p.Arg67Pro) | |
11 | g.8090142G= | CA1950953421 | TUB | c.164G= (p.Arg55=) c.329G= (p.Arg110=) c.182G= (p.Arg61=) c.290G= (p.Arg97=) c.200G= (p.Arg67=) | |
11 | g.8090142G>T | CA379562838 | TUB | c.164G>T (p.Arg55Leu) c.329G>T (p.Arg110Leu) c.182G>T (p.Arg61Leu) c.290G>T (p.Arg97Leu) c.200G>T (p.Arg67Leu) | |
11 | g.8090143G>A | CA473009075 | TUB | c.165G>A (p.Arg55=) c.330G>A (p.Arg110=) c.183G>A (p.Arg61=) c.291G>A (p.Arg97=) c.201G>A (p.Arg67=) | |
11 | g.8090143G>C | CA473009076 | TUB | c.165G>C (p.Arg55=) c.330G>C (p.Arg110=) c.183G>C (p.Arg61=) c.291G>C (p.Arg97=) c.201G>C (p.Arg67=) | |
11 | g.8090143G>T | CA473009077 | TUB | c.165G>T (p.Arg55=) c.330G>T (p.Arg110=) c.183G>T (p.Arg61=) c.291G>T (p.Arg97=) c.201G>T (p.Arg67=) | |
11 | g.8090144C>A | CA379562839 | TUB | c.166C>A (p.Pro56Thr) c.331C>A (p.Pro111Thr) c.184C>A (p.Pro62Thr) c.292C>A (p.Pro98Thr) c.202C>A (p.Pro68Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090144C= | CA1950953423 | TUB | c.166C= (p.Pro56=) c.331C= (p.Pro111=) c.184C= (p.Pro62=) c.292C= (p.Pro98=) c.202C= (p.Pro68=) | |
11 | g.8090144C>G | CA379562842 | TUB | c.166C>G (p.Pro56Ala) c.331C>G (p.Pro111Ala) c.184C>G (p.Pro62Ala) c.292C>G (p.Pro98Ala) c.202C>G (p.Pro68Ala) | |
11 | g.8090144C>T | CA5870979 | TUB | c.166C>T (p.Pro56Ser) c.331C>T (p.Pro111Ser) c.184C>T (p.Pro62Ser) c.292C>T (p.Pro98Ser) c.202C>T (p.Pro68Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090145C>A | CA379562844 | TUB | c.167C>A (p.Pro56His) c.332C>A (p.Pro111His) c.185C>A (p.Pro62His) c.293C>A (p.Pro98His) c.203C>A (p.Pro68His) | |
11 | g.8090145C= | CA1950953426 | TUB | c.167C= (p.Pro56=) c.332C= (p.Pro111=) c.185C= (p.Pro62=) c.293C= (p.Pro98=) c.203C= (p.Pro68=) | |
11 | g.8090145C>G | CA379562846 | TUB | c.167C>G (p.Pro56Arg) c.332C>G (p.Pro111Arg) c.185C>G (p.Pro62Arg) c.293C>G (p.Pro98Arg) c.203C>G (p.Pro68Arg) | |
11 | g.8090145C>T | CA379562848 | TUB | c.167C>T (p.Pro56Leu) c.332C>T (p.Pro111Leu) c.185C>T (p.Pro62Leu) c.293C>T (p.Pro98Leu) c.203C>T (p.Pro68Leu) | gnomAD v4 |
11 | g.8090150_8090164del | CA2612330585 | TUB | c.172_186del (p.Ser58_Arg62del) c.337_351del (p.Ser113_Arg117del) c.190_204del (p.Ser64_Arg68del) c.298_312del (p.Ser100_Arg104del) c.208_222del (p.Ser70_Arg74del) | gnomAD v4 |
11 | g.8090146C>A | CA473009078 | TUB | c.168C>A (p.Pro56=) c.333C>A (p.Pro111=) c.186C>A (p.Pro62=) c.294C>A (p.Pro98=) c.204C>A (p.Pro68=) | |
11 | g.8090146C= | CA1950953431 | TUB | c.168C= (p.Pro56=) c.333C= (p.Pro111=) c.186C= (p.Pro62=) c.294C= (p.Pro98=) c.204C= (p.Pro68=) | |
11 | g.8090146C>G | CA473009079 | TUB | c.168C>G (p.Pro56=) c.333C>G (p.Pro111=) c.186C>G (p.Pro62=) c.294C>G (p.Pro98=) c.204C>G (p.Pro68=) | |
11 | g.8090146C>T | CA217415581 | TUB | c.168C>T (p.Pro56=) c.333C>T (p.Pro111=) c.186C>T (p.Pro62=) c.294C>T (p.Pro98=) c.204C>T (p.Pro68=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090150_8090155dup | CA5870980 | TUB | c.172_177dup (p.Arg59_Arg60insSerArg) c.337_342dup (p.Arg114_Arg115insSerArg) c.190_195dup (p.Arg65_Arg66insSerArg) c.298_303dup (p.Arg101_Arg102insSerArg) c.208_213dup (p.Arg71_Arg72insSerArg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090147C>A | CA473009080 | TUB | c.169C>A (p.Arg57=) c.334C>A (p.Arg112=) c.187C>A (p.Arg63=) c.295C>A (p.Arg99=) c.205C>A (p.Arg69=) | gnomAD v4 |
11 | g.8090147C= | CA1950953436 | TUB | c.169C= (p.Arg57=) c.334C= (p.Arg112=) c.187C= (p.Arg63=) c.295C= (p.Arg99=) c.205C= (p.Arg69=) | |
11 | g.8090147C>G | CA379562851 | TUB | c.169C>G (p.Arg57Gly) c.334C>G (p.Arg112Gly) c.187C>G (p.Arg63Gly) c.295C>G (p.Arg99Gly) c.205C>G (p.Arg69Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090147C>T | CA379562853 | TUB | c.169C>T (p.Arg57Trp) c.334C>T (p.Arg112Trp) c.187C>T (p.Arg63Trp) c.295C>T (p.Arg99Trp) c.205C>T (p.Arg69Trp) | dbSNP gnomAD v4 COSMIC |
11 | g.8090148G>A | CA5870981 | TUB | c.170G>A (p.Arg57Gln) c.335G>A (p.Arg112Gln) c.188G>A (p.Arg63Gln) c.296G>A (p.Arg99Gln) c.206G>A (p.Arg69Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090148G>C | CA379562856 | TUB | c.170G>C (p.Arg57Pro) c.335G>C (p.Arg112Pro) c.188G>C (p.Arg63Pro) c.296G>C (p.Arg99Pro) c.206G>C (p.Arg69Pro) | |
11 | g.8090148G= | CA1950953441 | TUB | c.170G= (p.Arg57=) c.335G= (p.Arg112=) c.188G= (p.Arg63=) c.296G= (p.Arg99=) c.206G= (p.Arg69=) | |
11 | g.8090148G>T | CA379562858 | TUB | c.170G>T (p.Arg57Leu) c.335G>T (p.Arg112Leu) c.188G>T (p.Arg63Leu) c.296G>T (p.Arg99Leu) c.206G>T (p.Arg69Leu) | dbSNP |
11 | g.8090148_8090149delinsAA | CA217415589 | TUB | c.170_171delinsAA (p.Arg57Gln) c.335_336delinsAA (p.Arg112Gln) c.188_189delinsAA (p.Arg63Gln) c.296_297delinsAA (p.Arg99Gln) c.206_207delinsAA (p.Arg69Gln) | dbSNP |
11 | g.8090148_8090149delinsGG | CA1950953445 | TUB | c.170_171delinsGG (p.Arg57=) c.335_336delinsGG (p.Arg112=) c.188_189delinsGG (p.Arg63=) c.296_297delinsGG (p.Arg99=) c.206_207delinsGG (p.Arg69=) | |
11 | g.8090149G>A | CA5870982 | TUB | c.171G>A (p.Arg57=) c.336G>A (p.Arg112=) c.189G>A (p.Arg63=) c.297G>A (p.Arg99=) c.207G>A (p.Arg69=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090149G>C | CA473009081 | TUB | c.171G>C (p.Arg57=) c.336G>C (p.Arg112=) c.189G>C (p.Arg63=) c.297G>C (p.Arg99=) c.207G>C (p.Arg69=) | |
11 | g.8090149G= | CA1950953449 | TUB | c.171G= (p.Arg57=) c.336G= (p.Arg112=) c.189G= (p.Arg63=) c.297G= (p.Arg99=) c.207G= (p.Arg69=) | |
11 | g.8090149G>T | CA473009082 | TUB | c.171G>T (p.Arg57=) c.336G>T (p.Arg112=) c.189G>T (p.Arg63=) c.297G>T (p.Arg99=) c.207G>T (p.Arg69=) | |
11 | g.8090150A= | CA1950953452 | TUB | c.172A= (p.Ser58=) c.337A= (p.Ser113=) c.190A= (p.Ser64=) c.298A= (p.Ser100=) c.208A= (p.Ser70=) | |
11 | g.8090150A>C | CA379562865 | TUB | c.172A>C (p.Ser58Arg) c.337A>C (p.Ser113Arg) c.190A>C (p.Ser64Arg) c.298A>C (p.Ser100Arg) c.208A>C (p.Ser70Arg) | |
11 | g.8090150A>G | CA379562863 | TUB | c.172A>G (p.Ser58Gly) c.337A>G (p.Ser113Gly) c.190A>G (p.Ser64Gly) c.298A>G (p.Ser100Gly) c.208A>G (p.Ser70Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090150A>T | CA379562861 | TUB | c.172A>T (p.Ser58Cys) c.337A>T (p.Ser113Cys) c.190A>T (p.Ser64Cys) c.298A>T (p.Ser100Cys) c.208A>T (p.Ser70Cys) | |
11 | g.8090151G>A | CA379562866 | TUB | c.173G>A (p.Ser58Asn) c.338G>A (p.Ser113Asn) c.191G>A (p.Ser64Asn) c.299G>A (p.Ser100Asn) c.209G>A (p.Ser70Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090151G>C | CA379562868 | TUB | c.173G>C (p.Ser58Thr) c.338G>C (p.Ser113Thr) c.191G>C (p.Ser64Thr) c.299G>C (p.Ser100Thr) c.209G>C (p.Ser70Thr) | |
11 | g.8090151G= | CA1950953455 | TUB | c.173G= (p.Ser58=) c.338G= (p.Ser113=) c.191G= (p.Ser64=) c.299G= (p.Ser100=) c.209G= (p.Ser70=) | |
11 | g.8090151G>T | CA379562870 | TUB | c.173G>T (p.Ser58Ile) c.338G>T (p.Ser113Ile) c.191G>T (p.Ser64Ile) c.299G>T (p.Ser100Ile) c.209G>T (p.Ser70Ile) | |
11 | g.8090152C>A | CA379562871 | TUB | c.174C>A (p.Ser58Arg) c.339C>A (p.Ser113Arg) c.192C>A (p.Ser64Arg) c.300C>A (p.Ser100Arg) c.210C>A (p.Ser70Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090152C= | CA1950953461 | TUB | c.174C= (p.Ser58=) c.339C= (p.Ser113=) c.192C= (p.Ser64=) c.300C= (p.Ser100=) c.210C= (p.Ser70=) | |
11 | g.8090152C>G | CA379562873 | TUB | c.174C>G (p.Ser58Arg) c.339C>G (p.Ser113Arg) c.192C>G (p.Ser64Arg) c.300C>G (p.Ser100Arg) c.210C>G (p.Ser70Arg) | |
11 | g.8090152C>T | CA473009083 | TUB | c.174C>T (p.Ser58=) c.339C>T (p.Ser113=) c.192C>T (p.Ser64=) c.300C>T (p.Ser100=) c.210C>T (p.Ser70=) | gnomAD v4 |
11 | g.8090153C>A | CA473009084 | TUB | c.175C>A (p.Arg59=) c.340C>A (p.Arg114=) c.193C>A (p.Arg65=) c.301C>A (p.Arg101=) c.211C>A (p.Arg71=) | |
11 | g.8090153C= | CA1950953466 | TUB | c.175C= (p.Arg59=) c.340C= (p.Arg114=) c.193C= (p.Arg65=) c.301C= (p.Arg101=) c.211C= (p.Arg71=) | |
11 | g.8090153C>G | CA379562875 | TUB | c.175C>G (p.Arg59Gly) c.340C>G (p.Arg114Gly) c.193C>G (p.Arg65Gly) c.301C>G (p.Arg101Gly) c.211C>G (p.Arg71Gly) | |
11 | g.8090153C>T | CA5870983 | TUB | c.175C>T (p.Arg59Trp) c.340C>T (p.Arg114Trp) c.193C>T (p.Arg65Trp) c.301C>T (p.Arg101Trp) c.211C>T (p.Arg71Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090154G>A | CA5870984 | TUB | c.176G>A (p.Arg59Gln) c.341G>A (p.Arg114Gln) c.194G>A (p.Arg65Gln) c.302G>A (p.Arg101Gln) c.212G>A (p.Arg71Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.8090154G>C | CA379562880 | TUB | c.176G>C (p.Arg59Pro) c.341G>C (p.Arg114Pro) c.194G>C (p.Arg65Pro) c.302G>C (p.Arg101Pro) c.212G>C (p.Arg71Pro) | |
11 | g.8090154G= | CA1950953470 | TUB | c.176G= (p.Arg59=) c.341G= (p.Arg114=) c.194G= (p.Arg65=) c.302G= (p.Arg101=) c.212G= (p.Arg71=) | |
11 | g.8090154G>T | CA379562881 | TUB | c.176G>T (p.Arg59Leu) c.341G>T (p.Arg114Leu) c.194G>T (p.Arg65Leu) c.302G>T (p.Arg101Leu) c.212G>T (p.Arg71Leu) | |
11 | g.8090155G>A | CA473009085 | TUB | c.177G>A (p.Arg59=) c.342G>A (p.Arg114=) c.195G>A (p.Arg65=) c.303G>A (p.Arg101=) c.213G>A (p.Arg71=) | gnomAD v4 |
11 | g.8090155G>C | CA473009086 | TUB | c.177G>C (p.Arg59=) c.342G>C (p.Arg114=) c.195G>C (p.Arg65=) c.303G>C (p.Arg101=) c.213G>C (p.Arg71=) | dbSNP gnomAD v2 |
11 | g.8090155G= | CA1950953472 | TUB | c.177G= (p.Arg59=) c.342G= (p.Arg114=) c.195G= (p.Arg65=) c.303G= (p.Arg101=) c.213G= (p.Arg71=) | |
11 | g.8090155G>T | CA473009087 | TUB | c.177G>T (p.Arg59=) c.342G>T (p.Arg114=) c.195G>T (p.Arg65=) c.303G>T (p.Arg101=) c.213G>T (p.Arg71=) | |
11 | g.8090156C>A | CA473009088 | TUB | c.178C>A (p.Arg60=) c.343C>A (p.Arg115=) c.196C>A (p.Arg66=) c.304C>A (p.Arg102=) c.214C>A (p.Arg72=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090156C= | CA1950953475 | TUB | c.178C= (p.Arg60=) c.343C= (p.Arg115=) c.196C= (p.Arg66=) c.304C= (p.Arg102=) c.214C= (p.Arg72=) | |
11 | g.8090156C>G | CA379562884 | TUB | c.178C>G (p.Arg60Gly) c.343C>G (p.Arg115Gly) c.196C>G (p.Arg66Gly) c.304C>G (p.Arg102Gly) c.214C>G (p.Arg72Gly) | |
11 | g.8090156C>T | CA379562885 | TUB | c.178C>T (p.Arg60Trp) c.343C>T (p.Arg115Trp) c.196C>T (p.Arg66Trp) c.304C>T (p.Arg102Trp) c.214C>T (p.Arg72Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090157G>A | CA5870985 | TUB | c.179G>A (p.Arg60Gln) c.344G>A (p.Arg115Gln) c.197G>A (p.Arg66Gln) c.305G>A (p.Arg102Gln) c.215G>A (p.Arg72Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.8090157G>C | CA379562890 | TUB | c.179G>C (p.Arg60Pro) c.344G>C (p.Arg115Pro) c.197G>C (p.Arg66Pro) c.305G>C (p.Arg102Pro) c.215G>C (p.Arg72Pro) | |
11 | g.8090157G= | CA1950953478 | TUB | c.179G= (p.Arg60=) c.344G= (p.Arg115=) c.197G= (p.Arg66=) c.305G= (p.Arg102=) c.215G= (p.Arg72=) | |
11 | g.8090157G>T | CA379562887 | TUB | c.179G>T (p.Arg60Leu) c.344G>T (p.Arg115Leu) c.197G>T (p.Arg66Leu) c.305G>T (p.Arg102Leu) c.215G>T (p.Arg72Leu) | |
11 | g.8090158G>A | CA473009089 | TUB | c.180G>A (p.Arg60=) c.345G>A (p.Arg115=) c.198G>A (p.Arg66=) c.306G>A (p.Arg102=) c.216G>A (p.Arg72=) | |
11 | g.8090158G>C | CA473009090 | TUB | c.180G>C (p.Arg60=) c.345G>C (p.Arg115=) c.198G>C (p.Arg66=) c.306G>C (p.Arg102=) c.216G>C (p.Arg72=) | |
11 | g.8090158G>T | CA473009091 | TUB | c.180G>T (p.Arg60=) c.345G>T (p.Arg115=) c.198G>T (p.Arg66=) c.306G>T (p.Arg102=) c.216G>T (p.Arg72=) | gnomAD v4 |
11 | g.8090159G>A | CA379562896 | TUB | c.181G>A (p.Ala61Thr) c.346G>A (p.Ala116Thr) c.199G>A (p.Ala67Thr) c.307G>A (p.Ala103Thr) c.217G>A (p.Ala73Thr) | gnomAD v4 |
11 | g.8090159G>C | CA379562892 | TUB | c.181G>C (p.Ala61Pro) c.346G>C (p.Ala116Pro) c.199G>C (p.Ala67Pro) c.307G>C (p.Ala103Pro) c.217G>C (p.Ala73Pro) | |
11 | g.8090159G>T | CA379562894 | TUB | c.181G>T (p.Ala61Ser) c.346G>T (p.Ala116Ser) c.199G>T (p.Ala67Ser) c.307G>T (p.Ala103Ser) c.217G>T (p.Ala73Ser) | |
11 | g.8090159_8090160delinsGC | CA1950953481 | TUB | c.181_182delinsGC (p.Ala61=) c.346_347delinsGC (p.Ala116=) c.199_200delinsGC (p.Ala67=) c.307_308delinsGC (p.Ala103=) c.217_218delinsGC (p.Ala73=) | |
11 | g.8090160C>A | CA379562899 | TUB | c.182C>A (p.Ala61Asp) c.347C>A (p.Ala116Asp) c.200C>A (p.Ala67Asp) c.308C>A (p.Ala103Asp) c.218C>A (p.Ala73Asp) | |
11 | g.8090160C>G | CA379562900 | TUB | c.182C>G (p.Ala61Gly) c.347C>G (p.Ala116Gly) c.200C>G (p.Ala67Gly) c.308C>G (p.Ala103Gly) c.218C>G (p.Ala73Gly) | |
11 | g.8090160C>T | CA379562901 | TUB | c.182C>T (p.Ala61Val) c.347C>T (p.Ala116Val) c.200C>T (p.Ala67Val) c.308C>T (p.Ala103Val) c.218C>T (p.Ala73Val) | gnomAD v4 |
11 | g.8090162del | CA680747486 | TUB | c.184del (p.Arg62GlyfsTer?) c.349del (p.Arg117GlyfsTer?) c.202del (p.Arg68GlyfsTer?) c.310del (p.Arg104GlyfsTer?) c.220del (p.Arg74GlyfsTer?) | dbSNP |
11 | g.8090161C>A | CA473009092 | TUB | c.183C>A (p.Ala61=) c.348C>A (p.Ala116=) c.201C>A (p.Ala67=) c.309C>A (p.Ala103=) c.219C>A (p.Ala73=) | |
11 | g.8090161C= | CA1950953487 | TUB | c.183C= (p.Ala61=) c.348C= (p.Ala116=) c.201C= (p.Ala67=) c.309C= (p.Ala103=) c.219C= (p.Ala73=) | |
11 | g.8090161C>G | CA473009093 | TUB | c.183C>G (p.Ala61=) c.348C>G (p.Ala116=) c.201C>G (p.Ala67=) c.309C>G (p.Ala103=) c.219C>G (p.Ala73=) | |
11 | g.8090161C>T | CA217415615 | TUB | c.183C>T (p.Ala61=) c.348C>T (p.Ala116=) c.201C>T (p.Ala67=) c.309C>T (p.Ala103=) c.219C>T (p.Ala73=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090162C>A | CA5870987 | TUB | c.184C>A (p.Arg62=) c.349C>A (p.Arg117=) c.202C>A (p.Arg68=) c.310C>A (p.Arg104=) c.220C>A (p.Arg74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090162C= | CA1950953492 | TUB | c.184C= (p.Arg62=) c.349C= (p.Arg117=) c.202C= (p.Arg68=) c.310C= (p.Arg104=) c.220C= (p.Arg74=) | |
11 | g.8090162C>G | CA379562908 | TUB | c.184C>G (p.Arg62Gly) c.349C>G (p.Arg117Gly) c.202C>G (p.Arg68Gly) c.310C>G (p.Arg104Gly) c.220C>G (p.Arg74Gly) | gnomAD v4 |
11 | g.8090162C>T | CA5870986 | TUB | c.184C>T (p.Arg62Trp) c.349C>T (p.Arg117Trp) c.202C>T (p.Arg68Trp) c.310C>T (p.Arg104Trp) c.220C>T (p.Arg74Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090163G>A | CA5870989 | TUB | c.185G>A (p.Arg62Gln) c.350G>A (p.Arg117Gln) c.203G>A (p.Arg68Gln) c.311G>A (p.Arg104Gln) c.221G>A (p.Arg74Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090163G>C | CA379562912 | TUB | c.185G>C (p.Arg62Pro) c.350G>C (p.Arg117Pro) c.203G>C (p.Arg68Pro) c.311G>C (p.Arg104Pro) c.221G>C (p.Arg74Pro) | gnomAD v4 |
11 | g.8090163G= | CA1950953497 | TUB | c.185G= (p.Arg62=) c.350G= (p.Arg117=) c.203G= (p.Arg68=) c.311G= (p.Arg104=) c.221G= (p.Arg74=) | |
11 | g.8090163G>T | CA5870988 | TUB | c.185G>T (p.Arg62Leu) c.350G>T (p.Arg117Leu) c.203G>T (p.Arg68Leu) c.311G>T (p.Arg104Leu) c.221G>T (p.Arg74Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090164G>A | CA473009094 | TUB | c.186G>A (p.Arg62=) c.351G>A (p.Arg117=) c.204G>A (p.Arg68=) c.312G>A (p.Arg104=) c.222G>A (p.Arg74=) | |
11 | g.8090164G>C | CA473009096 | TUB | c.186G>C (p.Arg62=) c.351G>C (p.Arg117=) c.204G>C (p.Arg68=) c.312G>C (p.Arg104=) c.222G>C (p.Arg74=) | |
11 | g.8090164G>T | CA473009095 | TUB | c.186G>T (p.Arg62=) c.351G>T (p.Arg117=) c.204G>T (p.Arg68=) c.312G>T (p.Arg104=) c.222G>T (p.Arg74=) | |
11 | g.8090164_8090165delinsGC | CA1950953499 | TUB | c.186_187delinsGC (p.Arg62=) c.351_352delinsGC (p.Arg117=) c.204_205delinsGC (p.Arg68=) c.312_313delinsGC (p.Arg104=) c.222_223delinsGC (p.Arg74=) | |
11 | g.8090165del | CA5870990 | TUB | c.187del (p.Gln63SerfsTer?) c.352del (p.Gln118SerfsTer?) c.205del (p.Gln69SerfsTer?) c.313del (p.Gln105SerfsTer?) c.223del (p.Gln75SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090165C>A | CA379562920 | TUB | c.187C>A (p.Gln63Lys) c.352C>A (p.Gln118Lys) c.205C>A (p.Gln69Lys) c.313C>A (p.Gln105Lys) c.223C>A (p.Gln75Lys) | |
11 | g.8090165C>G | CA379562917 | TUB | c.187C>G (p.Gln63Glu) c.352C>G (p.Gln118Glu) c.205C>G (p.Gln69Glu) c.313C>G (p.Gln105Glu) c.223C>G (p.Gln75Glu) | |
11 | g.8090165C>T | CA379562916 | TUB | c.187C>T (p.Gln63Ter) c.352C>T (p.Gln118Ter) c.205C>T (p.Gln69Ter) c.313C>T (p.Gln105Ter) c.223C>T (p.Gln75Ter) | |
11 | g.8090166A>C | CA379562923 | TUB | c.188A>C (p.Gln63Pro) c.353A>C (p.Gln118Pro) c.206A>C (p.Gln69Pro) c.314A>C (p.Gln105Pro) c.224A>C (p.Gln75Pro) | |
11 | g.8090166A>G | CA379562924 | TUB | c.188A>G (p.Gln63Arg) c.353A>G (p.Gln118Arg) c.206A>G (p.Gln69Arg) c.314A>G (p.Gln105Arg) c.224A>G (p.Gln75Arg) | |
11 | g.8090166A>T | CA379562926 | TUB | c.188A>T (p.Gln63Leu) c.353A>T (p.Gln118Leu) c.206A>T (p.Gln69Leu) c.314A>T (p.Gln105Leu) c.224A>T (p.Gln75Leu) | |
11 | g.8090167G>A | CA473009097 | TUB | c.189G>A (p.Gln63=) c.354G>A (p.Gln118=) c.207G>A (p.Gln69=) c.315G>A (p.Gln105=) c.225G>A (p.Gln75=) | |
11 | g.8090167G>C | CA379562928 | TUB | c.189G>C (p.Gln63His) c.354G>C (p.Gln118His) c.207G>C (p.Gln69His) c.315G>C (p.Gln105His) c.225G>C (p.Gln75His) | |
11 | g.8090167G>T | CA379562930 | TUB | c.189G>T (p.Gln63His) c.354G>T (p.Gln118His) c.207G>T (p.Gln69His) c.315G>T (p.Gln105His) c.225G>T (p.Gln75His) | ClinVar dbSNP |
11 | g.8090168T>A | CA379562932 | TUB | c.190T>A (p.Ser64Thr) c.355T>A (p.Ser119Thr) c.208T>A (p.Ser70Thr) c.316T>A (p.Ser106Thr) c.226T>A (p.Ser76Thr) | |
11 | g.8090168T>C | CA5870991 | TUB | c.190T>C (p.Ser64Pro) c.355T>C (p.Ser119Pro) c.208T>C (p.Ser70Pro) c.316T>C (p.Ser106Pro) c.226T>C (p.Ser76Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090168T>G | CA379562935 | TUB | c.190T>G (p.Ser64Ala) c.355T>G (p.Ser119Ala) c.208T>G (p.Ser70Ala) c.316T>G (p.Ser106Ala) c.226T>G (p.Ser76Ala) | dbSNP |
11 | g.8090168T= | CA1950953504 | TUB | c.190T= (p.Ser64=) c.355T= (p.Ser119=) c.208T= (p.Ser70=) c.316T= (p.Ser106=) c.226T= (p.Ser76=) | |
11 | g.8090169C>A | CA379562938 | TUB | c.191C>A (p.Ser64Ter) c.356C>A (p.Ser119Ter) c.209C>A (p.Ser70Ter) c.317C>A (p.Ser106Ter) c.227C>A (p.Ser76Ter) | |
11 | g.8090169C>G | CA379562940 | TUB | c.191C>G (p.Ser64Ter) c.356C>G (p.Ser119Ter) c.209C>G (p.Ser70Ter) c.317C>G (p.Ser106Ter) c.227C>G (p.Ser76Ter) | |
11 | g.8090169C>T | CA379562942 | TUB | c.191C>T (p.Ser64Leu) c.356C>T (p.Ser119Leu) c.209C>T (p.Ser70Leu) c.317C>T (p.Ser106Leu) c.227C>T (p.Ser76Leu) | gnomAD v4 |
11 | g.8090170A>C | CA473009098 | TUB | c.192A>C (p.Ser64=) c.357A>C (p.Ser119=) c.210A>C (p.Ser70=) c.318A>C (p.Ser106=) c.228A>C (p.Ser76=) | |
11 | g.8090170A>G | CA473009099 | TUB | c.192A>G (p.Ser64=) c.357A>G (p.Ser119=) c.210A>G (p.Ser70=) c.318A>G (p.Ser106=) c.228A>G (p.Ser76=) | |
11 | g.8090170A>T | CA473009100 | TUB | c.192A>T (p.Ser64=) c.357A>T (p.Ser119=) c.210A>T (p.Ser70=) c.318A>T (p.Ser106=) c.228A>T (p.Ser76=) | |
11 | g.8090171G>A | CA379562949 | TUB | c.193G>A (p.Glu65Lys) c.358G>A (p.Glu120Lys) c.211G>A (p.Glu71Lys) c.319G>A (p.Glu107Lys) c.229G>A (p.Glu77Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.8090171G>C | CA379562946 | TUB | c.193G>C (p.Glu65Gln) c.358G>C (p.Glu120Gln) c.211G>C (p.Glu71Gln) c.319G>C (p.Glu107Gln) c.229G>C (p.Glu77Gln) | |
11 | g.8090171G= | CA1950953508 | TUB | c.193G= (p.Glu65=) c.358G= (p.Glu120=) c.211G= (p.Glu71=) c.319G= (p.Glu107=) c.229G= (p.Glu77=) | |
11 | g.8090171G>T | CA379562944 | TUB | c.193G>T (p.Glu65Ter) c.358G>T (p.Glu120Ter) c.211G>T (p.Glu71Ter) c.319G>T (p.Glu107Ter) c.229G>T (p.Glu77Ter) | |
11 | g.8090172A>C | CA379562951 | TUB | c.194A>C (p.Glu65Ala) c.359A>C (p.Glu120Ala) c.212A>C (p.Glu71Ala) c.320A>C (p.Glu107Ala) c.230A>C (p.Glu77Ala) | |
11 | g.8090172A>G | CA379562953 | TUB | c.194A>G (p.Glu65Gly) c.359A>G (p.Glu120Gly) c.212A>G (p.Glu71Gly) c.320A>G (p.Glu107Gly) c.230A>G (p.Glu77Gly) | gnomAD v4 |
11 | g.8090172A>T | CA379562955 | TUB | c.194A>T (p.Glu65Val) c.359A>T (p.Glu120Val) c.212A>T (p.Glu71Val) c.320A>T (p.Glu107Val) c.230A>T (p.Glu77Val) | |
11 | g.8090173G>A | CA473009101 | TUB | c.195G>A (p.Glu65=) c.360G>A (p.Glu120=) c.213G>A (p.Glu71=) c.321G>A (p.Glu107=) c.231G>A (p.Glu77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090173G>C | CA379562958 | TUB | c.195G>C (p.Glu65Asp) c.360G>C (p.Glu120Asp) c.213G>C (p.Glu71Asp) c.321G>C (p.Glu107Asp) c.231G>C (p.Glu77Asp) | |
11 | g.8090173G= | CA1950953511 | TUB | c.195G= (p.Glu65=) c.360G= (p.Glu120=) c.213G= (p.Glu71=) c.321G= (p.Glu107=) c.231G= (p.Glu77=) | |
11 | g.8090173G>T | CA379562959 | TUB | c.195G>T (p.Glu65Asp) c.360G>T (p.Glu120Asp) c.213G>T (p.Glu71Asp) c.321G>T (p.Glu107Asp) c.231G>T (p.Glu77Asp) | |
11 | g.8090174G>A | CA379562961 | TUB | c.196G>A (p.Glu66Lys) c.361G>A (p.Glu121Lys) c.214G>A (p.Glu72Lys) c.322G>A (p.Glu108Lys) c.232G>A (p.Glu78Lys) | |
11 | g.8090174G>C | CA379562963 | TUB | c.196G>C (p.Glu66Gln) c.361G>C (p.Glu121Gln) c.214G>C (p.Glu72Gln) c.322G>C (p.Glu108Gln) c.232G>C (p.Glu78Gln) | |
11 | g.8090174G>T | CA379562965 | TUB | c.196G>T (p.Glu66Ter) c.361G>T (p.Glu121Ter) c.214G>T (p.Glu72Ter) c.322G>T (p.Glu108Ter) c.232G>T (p.Glu78Ter) | |
11 | g.8090175A>C | CA379562968 | TUB | c.197A>C (p.Glu66Ala) c.362A>C (p.Glu121Ala) c.215A>C (p.Glu72Ala) c.323A>C (p.Glu108Ala) c.233A>C (p.Glu78Ala) | |
11 | g.8090175A>G | CA379562969 | TUB | c.197A>G (p.Glu66Gly) c.362A>G (p.Glu121Gly) c.215A>G (p.Glu72Gly) c.323A>G (p.Glu108Gly) c.233A>G (p.Glu78Gly) | |
11 | g.8090175A>T | CA379562970 | TUB | c.197A>T (p.Glu66Val) c.362A>T (p.Glu121Val) c.215A>T (p.Glu72Val) c.323A>T (p.Glu108Val) c.233A>T (p.Glu78Val) | |
11 | g.8090176A>C | CA379562972 | TUB | c.198A>C (p.Glu66Asp) c.363A>C (p.Glu121Asp) c.216A>C (p.Glu72Asp) c.324A>C (p.Glu108Asp) c.234A>C (p.Glu78Asp) | |
11 | g.8090176A>G | CA473009102 | TUB | c.198A>G (p.Glu66=) c.363A>G (p.Glu121=) c.216A>G (p.Glu72=) c.324A>G (p.Glu108=) c.234A>G (p.Glu78=) | COSMIC |
11 | g.8090176A>T | CA379562974 | TUB | c.198A>T (p.Glu66Asp) c.363A>T (p.Glu121Asp) c.216A>T (p.Glu72Asp) c.324A>T (p.Glu108Asp) c.234A>T (p.Glu78Asp) | |
11 | g.8090177C>A | CA379562981 | TUB | c.199C>A (p.Gln67Lys) c.364C>A (p.Gln122Lys) c.217C>A (p.Gln73Lys) c.325C>A (p.Gln109Lys) c.235C>A (p.Gln79Lys) | dbSNP gnomAD v4 |
11 | g.8090177C= | CA1950953514 | TUB | c.199C= (p.Gln67=) c.364C= (p.Gln122=) c.217C= (p.Gln73=) c.325C= (p.Gln109=) c.235C= (p.Gln79=) | |
11 | g.8090177C>G | CA379562977 | TUB | c.199C>G (p.Gln67Glu) c.364C>G (p.Gln122Glu) c.217C>G (p.Gln73Glu) c.325C>G (p.Gln109Glu) c.235C>G (p.Gln79Glu) | |
11 | g.8090177C>T | CA379562979 | TUB | c.199C>T (p.Gln67Ter) c.364C>T (p.Gln122Ter) c.217C>T (p.Gln73Ter) c.325C>T (p.Gln109Ter) c.235C>T (p.Gln79Ter) | |
11 | g.8090178A>C | CA379562983 | TUB | c.200A>C (p.Gln67Pro) c.365A>C (p.Gln122Pro) c.218A>C (p.Gln73Pro) c.326A>C (p.Gln109Pro) c.236A>C (p.Gln79Pro) | |
11 | g.8090178A>G | CA379562985 | TUB | c.200A>G (p.Gln67Arg) c.365A>G (p.Gln122Arg) c.218A>G (p.Gln73Arg) c.326A>G (p.Gln109Arg) c.236A>G (p.Gln79Arg) | |
11 | g.8090178A>T | CA379562987 | TUB | c.200A>T (p.Gln67Leu) c.365A>T (p.Gln122Leu) c.218A>T (p.Gln73Leu) c.326A>T (p.Gln109Leu) c.236A>T (p.Gln79Leu) | |
11 | g.8090178_8090192delinsAAGCCCCCCTGGTGG | CA1950953517 | TUB | c.200_214delinsAAGCCCCCCTGGTGG (p.Gln67=) c.365_379delinsAAGCCCCCCTGGTGG (p.Gln122=) c.218_232delinsAAGCCCCCCTGGTGG (p.Gln73=) c.326_340delinsAAGCCCCCCTGGTGG (p.Gln109=) c.236_250delinsAAGCCCCCCTGGTGG (p.Gln79=) | |
11 | g.8090179A>C | CA379562989 | TUB | c.201A>C (p.Gln67His) c.366A>C (p.Gln122His) c.219A>C (p.Gln73His) c.327A>C (p.Gln109His) c.237A>C (p.Gln79His) | |
11 | g.8090179A>G | CA473009103 | TUB | c.201A>G (p.Gln67=) c.366A>G (p.Gln122=) c.219A>G (p.Gln73=) c.327A>G (p.Gln109=) c.237A>G (p.Gln79=) | |
11 | g.8090179A>T | CA379562991 | TUB | c.201A>T (p.Gln67His) c.366A>T (p.Gln122His) c.219A>T (p.Gln73His) c.327A>T (p.Gln109His) c.237A>T (p.Gln79His) | |
11 | g.8090181_8090194del | CA5870992 | TUB | c.203_216del (p.Ala68ValfsTer?) c.368_381del (p.Ala123ValfsTer?) c.221_234del (p.Ala74ValfsTer?) c.329_342del (p.Ala110ValfsTer?) c.239_252del (p.Ala80ValfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090180G>A | CA379562995 | TUB | c.202G>A (p.Ala68Thr) c.367G>A (p.Ala123Thr) c.220G>A (p.Ala74Thr) c.328G>A (p.Ala110Thr) c.238G>A (p.Ala80Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090180G>C | CA379562997 | TUB | c.202G>C (p.Ala68Pro) c.367G>C (p.Ala123Pro) c.220G>C (p.Ala74Pro) c.328G>C (p.Ala110Pro) c.238G>C (p.Ala80Pro) | |
11 | g.8090180G= | CA1950953522 | TUB | c.202G= (p.Ala68=) c.367G= (p.Ala123=) c.220G= (p.Ala74=) c.328G= (p.Ala110=) c.238G= (p.Ala80=) | |
11 | g.8090180G>T | CA379562999 | TUB | c.202G>T (p.Ala68Ser) c.367G>T (p.Ala123Ser) c.220G>T (p.Ala74Ser) c.328G>T (p.Ala110Ser) c.238G>T (p.Ala80Ser) | |
11 | g.8090181C>A | CA379563001 | TUB | c.203C>A (p.Ala68Asp) c.368C>A (p.Ala123Asp) c.221C>A (p.Ala74Asp) c.329C>A (p.Ala110Asp) c.239C>A (p.Ala80Asp) | gnomAD v4 |
11 | g.8090181C= | CA1950953525 | TUB | c.203C= (p.Ala68=) c.368C= (p.Ala123=) c.221C= (p.Ala74=) c.329C= (p.Ala110=) c.239C= (p.Ala80=) | |
11 | g.8090181C>G | CA379563003 | TUB | c.203C>G (p.Ala68Gly) c.368C>G (p.Ala123Gly) c.221C>G (p.Ala74Gly) c.329C>G (p.Ala110Gly) c.239C>G (p.Ala80Gly) | |
11 | g.8090181C>T | CA5870993 | TUB | c.203C>T (p.Ala68Val) c.368C>T (p.Ala123Val) c.221C>T (p.Ala74Val) c.329C>T (p.Ala110Val) c.239C>T (p.Ala80Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090186dup | CA597441574 | TUB | c.208dup (p.Leu70ProfsTer?) c.373dup (p.Leu125ProfsTer?) c.226dup (p.Leu76ProfsTer?) c.334dup (p.Leu112ProfsTer?) c.244dup (p.Leu82ProfsTer?) | gnomAD v2 |
11 | g.8090183_8090186dup | CA2790351904 | TUB | c.205_208dup (p.Leu70ProfsTer?) c.370_373dup (p.Leu125ProfsTer?) c.223_226dup (p.Leu76ProfsTer?) c.331_334dup (p.Leu112ProfsTer?) c.241_244dup (p.Leu82ProfsTer?) | |
11 | g.8090186del | CA473009104 | TUB | c.208del (p.Leu70TrpfsTer?) c.373del (p.Leu125TrpfsTer?) c.226del (p.Leu76TrpfsTer?) c.334del (p.Leu112TrpfsTer?) c.244del (p.Leu82TrpfsTer?) | gnomAD v4 COSMIC |
11 | g.8090182C>A | CA473009105 | TUB | c.204C>A (p.Ala68=) c.369C>A (p.Ala123=) c.222C>A (p.Ala74=) c.330C>A (p.Ala110=) c.240C>A (p.Ala80=) | dbSNP COSMIC |
11 | g.8090182C= | CA1950953531 | TUB | c.204C= (p.Ala68=) c.369C= (p.Ala123=) c.222C= (p.Ala74=) c.330C= (p.Ala110=) c.240C= (p.Ala80=) | |
11 | g.8090182C>G | CA473009106 | TUB | c.204C>G (p.Ala68=) c.369C>G (p.Ala123=) c.222C>G (p.Ala74=) c.330C>G (p.Ala110=) c.240C>G (p.Ala80=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090182C>T | CA5870994 | TUB | c.204C>T (p.Ala68=) c.369C>T (p.Ala123=) c.222C>T (p.Ala74=) c.330C>T (p.Ala110=) c.240C>T (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090184_8090197dup | CA2612330586 | TUB | c.206_219dup (p.Tyr74ProfsTer?) c.371_384dup (p.Tyr129ProfsTer?) c.224_237dup (p.Tyr80ProfsTer?) c.332_345dup (p.Tyr116ProfsTer?) c.242_255dup (p.Tyr86ProfsTer?) | gnomAD v4 |
11 | g.8090183C>A | CA379563007 | TUB | c.205C>A (p.Pro69Thr) c.370C>A (p.Pro124Thr) c.223C>A (p.Pro75Thr) c.331C>A (p.Pro111Thr) c.241C>A (p.Pro81Thr) | |
11 | g.8090183C= | CA1950953535 | TUB | c.205C= (p.Pro69=) c.370C= (p.Pro124=) c.223C= (p.Pro75=) c.331C= (p.Pro111=) c.241C= (p.Pro81=) | |
11 | g.8090183C>G | CA379563008 | TUB | c.205C>G (p.Pro69Ala) c.370C>G (p.Pro124Ala) c.223C>G (p.Pro75Ala) c.331C>G (p.Pro111Ala) c.241C>G (p.Pro81Ala) | |
11 | g.8090183C>T | CA217415637 | TUB | c.205C>T (p.Pro69Ser) c.370C>T (p.Pro124Ser) c.223C>T (p.Pro75Ser) c.331C>T (p.Pro111Ser) c.241C>T (p.Pro81Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090184C>A | CA379563014 | TUB | c.206C>A (p.Pro69His) c.371C>A (p.Pro124His) c.224C>A (p.Pro75His) c.332C>A (p.Pro111His) c.242C>A (p.Pro81His) | |
11 | g.8090184C= | CA1950953537 | TUB | c.206C= (p.Pro69=) c.371C= (p.Pro124=) c.224C= (p.Pro75=) c.332C= (p.Pro111=) c.242C= (p.Pro81=) | |
11 | g.8090184C>G | CA379563011 | TUB | c.206C>G (p.Pro69Arg) c.371C>G (p.Pro124Arg) c.224C>G (p.Pro75Arg) c.332C>G (p.Pro111Arg) c.242C>G (p.Pro81Arg) | |
11 | g.8090184C>T | CA379563012 | TUB | c.206C>T (p.Pro69Leu) c.371C>T (p.Pro124Leu) c.224C>T (p.Pro75Leu) c.332C>T (p.Pro111Leu) c.242C>T (p.Pro81Leu) | dbSNP |
11 | g.8090185C>A | CA473009107 | TUB | c.207C>A (p.Pro69=) c.372C>A (p.Pro124=) c.225C>A (p.Pro75=) c.333C>A (p.Pro111=) c.243C>A (p.Pro81=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090185C= | CA1950953541 | TUB | c.207C= (p.Pro69=) c.372C= (p.Pro124=) c.225C= (p.Pro75=) c.333C= (p.Pro111=) c.243C= (p.Pro81=) | |
11 | g.8090185C>G | CA473009108 | TUB | c.207C>G (p.Pro69=) c.372C>G (p.Pro124=) c.225C>G (p.Pro75=) c.333C>G (p.Pro111=) c.243C>G (p.Pro81=) | gnomAD v4 |
11 | g.8090185C>T | CA5870995 | TUB | c.207C>T (p.Pro69=) c.372C>T (p.Pro124=) c.225C>T (p.Pro75=) c.333C>T (p.Pro111=) c.243C>T (p.Pro81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090186C>A | CA379563016 | TUB | c.208C>A (p.Leu70Met) c.373C>A (p.Leu125Met) c.226C>A (p.Leu76Met) c.334C>A (p.Leu112Met) c.244C>A (p.Leu82Met) | |
11 | g.8090186C>G | CA379563018 | TUB | c.208C>G (p.Leu70Val) c.373C>G (p.Leu125Val) c.226C>G (p.Leu76Val) c.334C>G (p.Leu112Val) c.244C>G (p.Leu82Val) | |
11 | g.8090186C>T | CA473009109 | TUB | c.208C>T (p.Leu70=) c.373C>T (p.Leu125=) c.226C>T (p.Leu76=) c.334C>T (p.Leu112=) c.244C>T (p.Leu82=) | |
11 | g.8090187del | CA2790351910 | TUB | c.209del (p.Leu70ArgfsTer?) c.374del (p.Leu125ArgfsTer?) c.227del (p.Leu76ArgfsTer?) c.335del (p.Leu112ArgfsTer?) c.245del (p.Leu82ArgfsTer?) | |
11 | g.8090187T>A | CA379563025 | TUB | c.209T>A (p.Leu70Gln) c.374T>A (p.Leu125Gln) c.227T>A (p.Leu76Gln) c.335T>A (p.Leu112Gln) c.245T>A (p.Leu82Gln) | gnomAD v4 |
11 | g.8090187T>C | CA379563023 | TUB | c.209T>C (p.Leu70Pro) c.374T>C (p.Leu125Pro) c.227T>C (p.Leu76Pro) c.335T>C (p.Leu112Pro) c.245T>C (p.Leu82Pro) | |
11 | g.8090187T>G | CA379563021 | TUB | c.209T>G (p.Leu70Arg) c.374T>G (p.Leu125Arg) c.227T>G (p.Leu76Arg) c.335T>G (p.Leu112Arg) c.245T>G (p.Leu82Arg) | |
11 | g.8090188G>A | CA473009112 | TUB | c.210G>A (p.Leu70=) c.375G>A (p.Leu125=) c.228G>A (p.Leu76=) c.336G>A (p.Leu112=) c.246G>A (p.Leu82=) | dbSNP |
11 | g.8090188G>C | CA473009111 | TUB | c.210G>C (p.Leu70=) c.375G>C (p.Leu125=) c.228G>C (p.Leu76=) c.336G>C (p.Leu112=) c.246G>C (p.Leu82=) | |
11 | g.8090188G= | CA1950953547 | TUB | c.210G= (p.Leu70=) c.375G= (p.Leu125=) c.228G= (p.Leu76=) c.336G= (p.Leu112=) c.246G= (p.Leu82=) | |
11 | g.8090188G>T | CA473009110 | TUB | c.210G>T (p.Leu70=) c.375G>T (p.Leu125=) c.228G>T (p.Leu76=) c.336G>T (p.Leu112=) c.246G>T (p.Leu82=) | |
11 | g.8090189G>A | CA379563027 | TUB | c.211G>A (p.Val71Met) c.376G>A (p.Val126Met) c.229G>A (p.Val77Met) c.337G>A (p.Val113Met) c.247G>A (p.Val83Met) | |
11 | g.8090189G>C | CA379563029 | TUB | c.211G>C (p.Val71Leu) c.376G>C (p.Val126Leu) c.229G>C (p.Val77Leu) c.337G>C (p.Val113Leu) c.247G>C (p.Val83Leu) | |
11 | g.8090189G>T | CA379563031 | TUB | c.211G>T (p.Val71Leu) c.376G>T (p.Val126Leu) c.229G>T (p.Val77Leu) c.337G>T (p.Val113Leu) c.247G>T (p.Val83Leu) | |
11 | g.8090190T>A | CA379563033 | TUB | c.212T>A (p.Val71Glu) c.377T>A (p.Val126Glu) c.230T>A (p.Val77Glu) c.338T>A (p.Val113Glu) c.248T>A (p.Val83Glu) | |
11 | g.8090190T>C | CA379563035 | TUB | c.212T>C (p.Val71Ala) c.377T>C (p.Val126Ala) c.230T>C (p.Val77Ala) c.338T>C (p.Val113Ala) c.248T>C (p.Val83Ala) | |
11 | g.8090190T>G | CA379563037 | TUB | c.212T>G (p.Val71Gly) c.377T>G (p.Val126Gly) c.230T>G (p.Val77Gly) c.338T>G (p.Val113Gly) c.248T>G (p.Val83Gly) | dbSNP |
11 | g.8090190T= | CA1950953549 | TUB | c.212T= (p.Val71=) c.377T= (p.Val126=) c.230T= (p.Val77=) c.338T= (p.Val113=) c.248T= (p.Val83=) | |
11 | g.8090191G>A | CA473009113 | TUB | c.213G>A (p.Val71=) c.378G>A (p.Val126=) c.231G>A (p.Val77=) c.339G>A (p.Val113=) c.249G>A (p.Val83=) | gnomAD v4 |
11 | g.8090191G>C | CA473009114 | TUB | c.213G>C (p.Val71=) c.378G>C (p.Val126=) c.231G>C (p.Val77=) c.339G>C (p.Val113=) c.249G>C (p.Val83=) | |
11 | g.8090191G>T | CA473009115 | TUB | c.213G>T (p.Val71=) c.378G>T (p.Val126=) c.231G>T (p.Val77=) c.339G>T (p.Val113=) c.249G>T (p.Val83=) | |
11 | g.8090192G>A | CA379563043 | TUB | c.214G>A (p.Glu72Lys) c.379G>A (p.Glu127Lys) c.232G>A (p.Glu78Lys) c.340G>A (p.Glu114Lys) c.250G>A (p.Glu84Lys) | dbSNP |
11 | g.8090192G>C | CA379563039 | TUB | c.214G>C (p.Glu72Gln) c.379G>C (p.Glu127Gln) c.232G>C (p.Glu78Gln) c.340G>C (p.Glu114Gln) c.250G>C (p.Glu84Gln) | |
11 | g.8090192G= | CA1950953552 | TUB | c.214G= (p.Glu72=) c.379G= (p.Glu127=) c.232G= (p.Glu78=) c.340G= (p.Glu114=) c.250G= (p.Glu84=) | |
11 | g.8090192G>T | CA379563041 | TUB | c.214G>T (p.Glu72Ter) c.379G>T (p.Glu127Ter) c.232G>T (p.Glu78Ter) c.340G>T (p.Glu114Ter) c.250G>T (p.Glu84Ter) | dbSNP gnomAD v2 |
11 | g.8090193A= | CA1950953557 | TUB | c.215A= (p.Glu72=) c.380A= (p.Glu127=) c.233A= (p.Glu78=) c.341A= (p.Glu114=) c.251A= (p.Glu84=) | |
11 | g.8090193A>C | CA379563044 | TUB | c.215A>C (p.Glu72Ala) c.380A>C (p.Glu127Ala) c.233A>C (p.Glu78Ala) c.341A>C (p.Glu114Ala) c.251A>C (p.Glu84Ala) | dbSNP |
11 | g.8090193A>G | CA379563046 | TUB | c.215A>G (p.Glu72Gly) c.380A>G (p.Glu127Gly) c.233A>G (p.Glu78Gly) c.341A>G (p.Glu114Gly) c.251A>G (p.Glu84Gly) | |
11 | g.8090193A>T | CA379563048 | TUB | c.215A>T (p.Glu72Val) c.380A>T (p.Glu127Val) c.233A>T (p.Glu78Val) c.341A>T (p.Glu114Val) c.251A>T (p.Glu84Val) | |
11 | g.8090194G>A | CA473009116 | TUB | c.216G>A (p.Glu72=) c.381G>A (p.Glu127=) c.234G>A (p.Glu78=) c.342G>A (p.Glu114=) c.252G>A (p.Glu84=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090194G>C | CA379563049 | TUB | c.216G>C (p.Glu72Asp) c.381G>C (p.Glu127Asp) c.234G>C (p.Glu78Asp) c.342G>C (p.Glu114Asp) c.252G>C (p.Glu84Asp) | |
11 | g.8090194G= | CA1950953559 | TUB | c.216G= (p.Glu72=) c.381G= (p.Glu127=) c.234G= (p.Glu78=) c.342G= (p.Glu114=) c.252G= (p.Glu84=) | |
11 | g.8090194G>T | CA379563050 | TUB | c.216G>T (p.Glu72Asp) c.381G>T (p.Glu127Asp) c.234G>T (p.Glu78Asp) c.342G>T (p.Glu114Asp) c.252G>T (p.Glu84Asp) | |
11 | g.8090195T>A | CA379563052 | TUB | c.217T>A (p.Ser73Thr) c.382T>A (p.Ser128Thr) c.235T>A (p.Ser79Thr) c.343T>A (p.Ser115Thr) c.253T>A (p.Ser85Thr) | |
11 | g.8090195T>C | CA379563054 | TUB | c.217T>C (p.Ser73Pro) c.382T>C (p.Ser128Pro) c.235T>C (p.Ser79Pro) c.343T>C (p.Ser115Pro) c.253T>C (p.Ser85Pro) | |
11 | g.8090195T>G | CA379563055 | TUB | c.217T>G (p.Ser73Ala) c.382T>G (p.Ser128Ala) c.235T>G (p.Ser79Ala) c.343T>G (p.Ser115Ala) c.253T>G (p.Ser85Ala) | |
11 | g.8090196C>A | CA379563058 | TUB | c.218C>A (p.Ser73Tyr) c.383C>A (p.Ser128Tyr) c.236C>A (p.Ser79Tyr) c.344C>A (p.Ser115Tyr) c.254C>A (p.Ser85Tyr) | |
11 | g.8090196C= | CA1950953562 | TUB | c.218C= (p.Ser73=) c.383C= (p.Ser128=) c.236C= (p.Ser79=) c.344C= (p.Ser115=) c.254C= (p.Ser85=) | |
11 | g.8090196C>G | CA379563060 | TUB | c.218C>G (p.Ser73Cys) c.383C>G (p.Ser128Cys) c.236C>G (p.Ser79Cys) c.344C>G (p.Ser115Cys) c.254C>G (p.Ser85Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.8090196C>T | CA5870996 | TUB | c.218C>T (p.Ser73Phe) c.383C>T (p.Ser128Phe) c.236C>T (p.Ser79Phe) c.344C>T (p.Ser115Phe) c.254C>T (p.Ser85Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197C>A | CA473009117 | TUB | c.219C>A (p.Ser73=) c.384C>A (p.Ser128=) c.237C>A (p.Ser79=) c.345C>A (p.Ser115=) c.255C>A (p.Ser85=) | |
11 | g.8090197C= | CA1950953567 | TUB | c.219C= (p.Ser73=) c.384C= (p.Ser128=) c.237C= (p.Ser79=) c.345C= (p.Ser115=) c.255C= (p.Ser85=) | |
11 | g.8090197C>G | CA5870997 | TUB | c.219C>G (p.Ser73=) c.384C>G (p.Ser128=) c.237C>G (p.Ser79=) c.345C>G (p.Ser115=) c.255C>G (p.Ser85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197C>T | CA5870999 | TUB | c.219C>T (p.Ser73=) c.384C>T (p.Ser128=) c.237C>T (p.Ser79=) c.345C>T (p.Ser115=) c.255C>T (p.Ser85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090197_8090202delinsCTACCT | CA1950953569 | TUB | c.219_224delinsCTACCT (p.Ser73=) c.384_389delinsCTACCT (p.Ser128=) c.237_242delinsCTACCT (p.Ser79=) c.345_350delinsCTACCT (p.Ser115=) c.255_260delinsCTACCT (p.Ser85=) | |
11 | g.8090198T>A | CA379563065 | TUB | c.220T>A (p.Tyr74Asn) c.385T>A (p.Tyr129Asn) c.238T>A (p.Tyr80Asn) c.346T>A (p.Tyr116Asn) c.256T>A (p.Tyr86Asn) | |
11 | g.8090198T>C | CA379563067 | TUB | c.220T>C (p.Tyr74His) c.385T>C (p.Tyr129His) c.238T>C (p.Tyr80His) c.346T>C (p.Tyr116His) c.256T>C (p.Tyr86His) | |
11 | g.8090198T>G | CA379563069 | TUB | c.220T>G (p.Tyr74Asp) c.385T>G (p.Tyr129Asp) c.238T>G (p.Tyr80Asp) c.346T>G (p.Tyr116Asp) c.256T>G (p.Tyr86Asp) | |
11 | g.8090198_8090202del | CA5870998 | TUB | c.220_224del (p.Tyr74GlnfsTer?) c.385_389del (p.Tyr129GlnfsTer?) c.238_242del (p.Tyr80GlnfsTer?) c.346_350del (p.Tyr116GlnfsTer?) c.256_260del (p.Tyr86GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090199A>C | CA379563071 | TUB | c.221A>C (p.Tyr74Ser) c.386A>C (p.Tyr129Ser) c.239A>C (p.Tyr80Ser) c.347A>C (p.Tyr116Ser) c.257A>C (p.Tyr86Ser) | |
11 | g.8090199A>G | CA379563072 | TUB | c.221A>G (p.Tyr74Cys) c.386A>G (p.Tyr129Cys) c.239A>G (p.Tyr80Cys) c.347A>G (p.Tyr116Cys) c.257A>G (p.Tyr86Cys) | |
11 | g.8090199A>T | CA379563074 | TUB | c.221A>T (p.Tyr74Phe) c.386A>T (p.Tyr129Phe) c.239A>T (p.Tyr80Phe) c.347A>T (p.Tyr116Phe) c.257A>T (p.Tyr86Phe) | |
11 | g.8090200C>A | CA379563077 | TUB | c.222C>A (p.Tyr74Ter) c.387C>A (p.Tyr129Ter) c.240C>A (p.Tyr80Ter) c.348C>A (p.Tyr116Ter) c.258C>A (p.Tyr86Ter) | |
11 | g.8090200C>G | CA379563079 | TUB | c.222C>G (p.Tyr74Ter) c.387C>G (p.Tyr129Ter) c.240C>G (p.Tyr80Ter) c.348C>G (p.Tyr116Ter) c.258C>G (p.Tyr86Ter) | |
11 | g.8090200C>T | CA473009118 | TUB | c.222C>T (p.Tyr74=) c.387C>T (p.Tyr129=) c.240C>T (p.Tyr80=) c.348C>T (p.Tyr116=) c.258C>T (p.Tyr86=) | COSMIC |
11 | g.8090201C>A | CA379563082 | TUB | c.223C>A (p.Leu75Ile) c.388C>A (p.Leu130Ile) c.241C>A (p.Leu81Ile) c.349C>A (p.Leu117Ile) c.259C>A (p.Leu87Ile) | |
11 | g.8090201C= | CA1950953573 | TUB | c.223C= (p.Leu75=) c.388C= (p.Leu130=) c.241C= (p.Leu81=) c.349C= (p.Leu117=) c.259C= (p.Leu87=) | |
11 | g.8090201C>G | CA379563084 | TUB | c.223C>G (p.Leu75Val) c.388C>G (p.Leu130Val) c.241C>G (p.Leu81Val) c.349C>G (p.Leu117Val) c.259C>G (p.Leu87Val) | |
11 | g.8090201C>T | CA217415675 | TUB | c.223C>T (p.Leu75Phe) c.388C>T (p.Leu130Phe) c.241C>T (p.Leu81Phe) c.349C>T (p.Leu117Phe) c.259C>T (p.Leu87Phe) | dbSNP |
11 | g.8090202T>A | CA379563087 | TUB | c.224T>A (p.Leu75His) c.389T>A (p.Leu130His) c.242T>A (p.Leu81His) c.350T>A (p.Leu117His) c.260T>A (p.Leu87His) | |
11 | g.8090202T>C | CA379563090 | TUB | c.224T>C (p.Leu75Pro) c.389T>C (p.Leu130Pro) c.242T>C (p.Leu81Pro) c.350T>C (p.Leu117Pro) c.260T>C (p.Leu87Pro) | |
11 | g.8090202T>G | CA379563091 | TUB | c.224T>G (p.Leu75Arg) c.389T>G (p.Leu130Arg) c.242T>G (p.Leu81Arg) c.350T>G (p.Leu117Arg) c.260T>G (p.Leu87Arg) | |
11 | g.8090203C>A | CA473009119 | TUB | c.225C>A (p.Leu75=) c.390C>A (p.Leu130=) c.243C>A (p.Leu81=) c.351C>A (p.Leu117=) c.261C>A (p.Leu87=) | |
11 | g.8090203C= | CA1950953576 | TUB | c.225C= (p.Leu75=) c.390C= (p.Leu130=) c.243C= (p.Leu81=) c.351C= (p.Leu117=) c.261C= (p.Leu87=) | |
11 | g.8090203C>G | CA473009120 | TUB | c.225C>G (p.Leu75=) c.390C>G (p.Leu130=) c.243C>G (p.Leu81=) c.351C>G (p.Leu117=) c.261C>G (p.Leu87=) | |
11 | g.8090203C>T | CA5871000 | TUB | c.225C>T (p.Leu75=) c.390C>T (p.Leu130=) c.243C>T (p.Leu81=) c.351C>T (p.Leu117=) c.261C>T (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090204A>C | CA379563096 | TUB | c.226A>C (p.Ser76Arg) c.391A>C (p.Ser131Arg) c.244A>C (p.Ser82Arg) c.352A>C (p.Ser118Arg) c.262A>C (p.Ser88Arg) | |
11 | g.8090204A>G | CA379563099 | TUB | c.226A>G (p.Ser76Gly) c.391A>G (p.Ser131Gly) c.244A>G (p.Ser82Gly) c.352A>G (p.Ser118Gly) c.262A>G (p.Ser88Gly) | gnomAD v4 |
11 | g.8090204A>T | CA379563097 | TUB | c.226A>T (p.Ser76Cys) c.391A>T (p.Ser131Cys) c.244A>T (p.Ser82Cys) c.352A>T (p.Ser118Cys) c.262A>T (p.Ser88Cys) | |
11 | g.8090205G>A | CA379563101 | TUB | c.227G>A (p.Ser76Asn) c.392G>A (p.Ser131Asn) c.245G>A (p.Ser82Asn) c.353G>A (p.Ser118Asn) c.263G>A (p.Ser88Asn) | |
11 | g.8090205G>C | CA379563103 | TUB | c.227G>C (p.Ser76Thr) c.392G>C (p.Ser131Thr) c.245G>C (p.Ser82Thr) c.353G>C (p.Ser118Thr) c.263G>C (p.Ser88Thr) | |
11 | g.8090205G>T | CA379563105 | TUB | c.227G>T (p.Ser76Ile) c.392G>T (p.Ser131Ile) c.245G>T (p.Ser82Ile) c.353G>T (p.Ser118Ile) c.263G>T (p.Ser88Ile) | |
11 | g.8090206C>A | CA379563107 | TUB | c.228C>A (p.Ser76Arg) c.393C>A (p.Ser131Arg) c.246C>A (p.Ser82Arg) c.354C>A (p.Ser118Arg) c.264C>A (p.Ser88Arg) | |
11 | g.8090206C>G | CA379563108 | TUB | c.228C>G (p.Ser76Arg) c.393C>G (p.Ser131Arg) c.246C>G (p.Ser82Arg) c.354C>G (p.Ser118Arg) c.264C>G (p.Ser88Arg) | |
11 | g.8090206C>T | CA473009121 | TUB | c.228C>T (p.Ser76=) c.393C>T (p.Ser131=) c.246C>T (p.Ser82=) c.354C>T (p.Ser118=) c.264C>T (p.Ser88=) | dbSNP |
11 | g.8090207A= | CA1950953579 | TUB | c.229A= (p.Ser77=) c.394A= (p.Ser132=) c.247A= (p.Ser83=) c.355A= (p.Ser119=) c.265A= (p.Ser89=) | |
11 | g.8090207A>C | CA5871001 | TUB | c.229A>C (p.Ser77Arg) c.394A>C (p.Ser132Arg) c.247A>C (p.Ser83Arg) c.355A>C (p.Ser119Arg) c.265A>C (p.Ser89Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090207A>G | CA379563111 | TUB | c.229A>G (p.Ser77Gly) c.394A>G (p.Ser132Gly) c.247A>G (p.Ser83Gly) c.355A>G (p.Ser119Gly) c.265A>G (p.Ser89Gly) | |
11 | g.8090207A>T | CA379563112 | TUB | c.229A>T (p.Ser77Cys) c.394A>T (p.Ser132Cys) c.247A>T (p.Ser83Cys) c.355A>T (p.Ser119Cys) c.265A>T (p.Ser89Cys) | |
11 | g.8090208G>A | CA379563115 | TUB | c.230G>A (p.Ser77Asn) c.395G>A (p.Ser132Asn) c.248G>A (p.Ser83Asn) c.356G>A (p.Ser119Asn) c.266G>A (p.Ser89Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090208G>C | CA379563116 | TUB | c.230G>C (p.Ser77Thr) c.395G>C (p.Ser132Thr) c.248G>C (p.Ser83Thr) c.356G>C (p.Ser119Thr) c.266G>C (p.Ser89Thr) | gnomAD v4 |
11 | g.8090208G= | CA1950953582 | TUB | c.230G= (p.Ser77=) c.395G= (p.Ser132=) c.248G= (p.Ser83=) c.356G= (p.Ser119=) c.266G= (p.Ser89=) | |
11 | g.8090208G>T | CA5871002 | TUB | c.230G>T (p.Ser77Ile) c.395G>T (p.Ser132Ile) c.248G>T (p.Ser83Ile) c.356G>T (p.Ser119Ile) c.266G>T (p.Ser89Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.8090209C>A | CA379563123 | TUB | c.231C>A (p.Ser77Arg) c.396C>A (p.Ser132Arg) c.249C>A (p.Ser83Arg) c.357C>A (p.Ser119Arg) c.267C>A (p.Ser89Arg) | |
11 | g.8090209C>G | CA379563121 | TUB | c.231C>G (p.Ser77Arg) c.396C>G (p.Ser132Arg) c.249C>G (p.Ser83Arg) c.357C>G (p.Ser119Arg) c.267C>G (p.Ser89Arg) | |
11 | g.8090209C>T | CA473009122 | TUB | c.231C>T (p.Ser77=) c.396C>T (p.Ser132=) c.249C>T (p.Ser83=) c.357C>T (p.Ser119=) c.267C>T (p.Ser89=) | gnomAD v4 |
11 | g.8090210A= | CA1950953584 | TUB | c.232A= (p.Ser78=) c.397A= (p.Ser133=) c.250A= (p.Ser84=) c.358A= (p.Ser120=) c.268A= (p.Ser90=) | |
11 | g.8090210A>C | CA379563125 | TUB | c.232A>C (p.Ser78Arg) c.397A>C (p.Ser133Arg) c.250A>C (p.Ser84Arg) c.358A>C (p.Ser120Arg) c.268A>C (p.Ser90Arg) | dbSNP gnomAD v4 |
11 | g.8090210A>G | CA379563127 | TUB | c.232A>G (p.Ser78Gly) c.397A>G (p.Ser133Gly) c.250A>G (p.Ser84Gly) c.358A>G (p.Ser120Gly) c.268A>G (p.Ser90Gly) | |
11 | g.8090210A>T | CA379563129 | TUB | c.232A>T (p.Ser78Cys) c.397A>T (p.Ser133Cys) c.250A>T (p.Ser84Cys) c.358A>T (p.Ser120Cys) c.268A>T (p.Ser90Cys) | |
11 | g.8090211G>A | CA379563131 | TUB | c.233G>A (p.Ser78Asn) c.398G>A (p.Ser133Asn) c.251G>A (p.Ser84Asn) c.359G>A (p.Ser120Asn) c.269G>A (p.Ser90Asn) | dbSNP |
11 | g.8090211G>C | CA379563133 | TUB | c.233G>C (p.Ser78Thr) c.398G>C (p.Ser133Thr) c.251G>C (p.Ser84Thr) c.359G>C (p.Ser120Thr) c.269G>C (p.Ser90Thr) | |
11 | g.8090211G= | CA1950953586 | TUB | c.233G= (p.Ser78=) c.398G= (p.Ser133=) c.251G= (p.Ser84=) c.359G= (p.Ser120=) c.269G= (p.Ser90=) | |
11 | g.8090211G>T | CA379563135 | TUB | c.233G>T (p.Ser78Ile) c.398G>T (p.Ser133Ile) c.251G>T (p.Ser84Ile) c.359G>T (p.Ser120Ile) c.269G>T (p.Ser90Ile) | |
11 | g.8090212T>A | CA379563137 | TUB | c.234T>A (p.Ser78Arg) c.399T>A (p.Ser133Arg) c.252T>A (p.Ser84Arg) c.360T>A (p.Ser120Arg) c.270T>A (p.Ser90Arg) | |
11 | g.8090212T>C | CA473009123 | TUB | c.234T>C (p.Ser78=) c.399T>C (p.Ser133=) c.252T>C (p.Ser84=) c.360T>C (p.Ser120=) c.270T>C (p.Ser90=) | gnomAD v4 |
11 | g.8090212T>G | CA379563139 | TUB | c.234T>G (p.Ser78Arg) c.399T>G (p.Ser133Arg) c.252T>G (p.Ser84Arg) c.360T>G (p.Ser120Arg) c.270T>G (p.Ser90Arg) | |
11 | g.8090213G>A | CA379563140 | TUB | c.235G>A (p.Gly79Ser) c.400G>A (p.Gly134Ser) c.253G>A (p.Gly85Ser) c.361G>A (p.Gly121Ser) c.271G>A (p.Gly91Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.8090213G>C | CA379563141 | TUB | c.235G>C (p.Gly79Arg) c.400G>C (p.Gly134Arg) c.253G>C (p.Gly85Arg) c.361G>C (p.Gly121Arg) c.271G>C (p.Gly91Arg) | |
11 | g.8090213G= | CA1950953589 | TUB | c.235G= (p.Gly79=) c.400G= (p.Gly134=) c.253G= (p.Gly85=) c.361G= (p.Gly121=) c.271G= (p.Gly91=) | |
11 | g.8090213G>T | CA379563144 | TUB | c.235G>T (p.Gly79Cys) c.400G>T (p.Gly134Cys) c.253G>T (p.Gly85Cys) c.361G>T (p.Gly121Cys) c.271G>T (p.Gly91Cys) | |
11 | g.8090214G>A | CA379563145 | TUB | c.236G>A (p.Gly79Asp) c.401G>A (p.Gly134Asp) c.254G>A (p.Gly85Asp) c.362G>A (p.Gly121Asp) c.272G>A (p.Gly91Asp) | |
11 | g.8090214G>C | CA379563148 | TUB | c.236G>C (p.Gly79Ala) c.401G>C (p.Gly134Ala) c.254G>C (p.Gly85Ala) c.362G>C (p.Gly121Ala) c.272G>C (p.Gly91Ala) | |
11 | g.8090214G>T | CA379563151 | TUB | c.236G>T (p.Gly79Val) c.401G>T (p.Gly134Val) c.254G>T (p.Gly85Val) c.362G>T (p.Gly121Val) c.272G>T (p.Gly91Val) | |
11 | g.8090215C>A | CA473009124 | TUB | c.237C>A (p.Gly79=) c.402C>A (p.Gly134=) c.255C>A (p.Gly85=) c.363C>A (p.Gly121=) c.273C>A (p.Gly91=) | |
11 | g.8090215C>G | CA473009125 | TUB | c.237C>G (p.Gly79=) c.402C>G (p.Gly134=) c.255C>G (p.Gly85=) c.363C>G (p.Gly121=) c.273C>G (p.Gly91=) | |
11 | g.8090215C>T | CA473009126 | TUB | c.237C>T (p.Gly79=) c.402C>T (p.Gly134=) c.255C>T (p.Gly85=) c.363C>T (p.Gly121=) c.273C>T (p.Gly91=) | |
11 | g.8090216A= | CA1950953591 | TUB | c.238A= (p.Ser80=) c.403A= (p.Ser135=) c.256A= (p.Ser86=) c.364A= (p.Ser122=) c.274A= (p.Ser92=) | |
11 | g.8090216A>C | CA379563158 | TUB | c.238A>C (p.Ser80Arg) c.403A>C (p.Ser135Arg) c.256A>C (p.Ser86Arg) c.364A>C (p.Ser122Arg) c.274A>C (p.Ser92Arg) | |
11 | g.8090216A>G | CA379563156 | TUB | c.238A>G (p.Ser80Gly) c.403A>G (p.Ser135Gly) c.256A>G (p.Ser86Gly) c.364A>G (p.Ser122Gly) c.274A>G (p.Ser92Gly) | |
11 | g.8090216A>T | CA379563154 | TUB | c.238A>T (p.Ser80Cys) c.403A>T (p.Ser135Cys) c.256A>T (p.Ser86Cys) c.364A>T (p.Ser122Cys) c.274A>T (p.Ser92Cys) | |
11 | g.8090217G>A | CA379563160 | TUB | c.239G>A (p.Ser80Asn) c.404G>A (p.Ser135Asn) c.257G>A (p.Ser86Asn) c.365G>A (p.Ser122Asn) c.275G>A (p.Ser92Asn) | |
11 | g.8090217G>C | CA379563161 | TUB | c.239G>C (p.Ser80Thr) c.404G>C (p.Ser135Thr) c.257G>C (p.Ser86Thr) c.365G>C (p.Ser122Thr) c.275G>C (p.Ser92Thr) | |
11 | g.8090217G>T | CA379563164 | TUB | c.239G>T (p.Ser80Ile) c.404G>T (p.Ser135Ile) c.257G>T (p.Ser86Ile) c.365G>T (p.Ser122Ile) c.275G>T (p.Ser92Ile) | |
11 | g.8090219_8090267dup | CA934888266 | TUB | c.241_253+36dup c.406_418+36dup c.259_271+36dup c.367_379+36dup c.277_289+36dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.8090218C>A | CA379563167 | TUB | c.240C>A (p.Ser80Arg) c.405C>A (p.Ser135Arg) c.258C>A (p.Ser86Arg) c.366C>A (p.Ser122Arg) c.276C>A (p.Ser92Arg) | |
11 | g.8090218C= | CA1950953596 | TUB | c.240C= (p.Ser80=) c.405C= (p.Ser135=) c.258C= (p.Ser86=) c.366C= (p.Ser122=) c.276C= (p.Ser92=) | |
11 | g.8090218C>G | CA379563168 | TUB | c.240C>G (p.Ser80Arg) c.405C>G (p.Ser135Arg) c.258C>G (p.Ser86Arg) c.366C>G (p.Ser122Arg) c.276C>G (p.Ser92Arg) | dbSNP gnomAD v4 |
11 | g.8090218C>T | CA473009127 | TUB | c.240C>T (p.Ser80=) c.405C>T (p.Ser135=) c.258C>T (p.Ser86=) c.366C>T (p.Ser122=) c.276C>T (p.Ser92=) | dbSNP |
11 | g.8090219A>C | CA379563170 | TUB | c.241A>C (p.Thr81Pro) c.406A>C (p.Thr136Pro) c.259A>C (p.Thr87Pro) c.367A>C (p.Thr123Pro) c.277A>C (p.Thr93Pro) | |
11 | g.8090219A>G | CA379563172 | TUB | c.241A>G (p.Thr81Ala) c.406A>G (p.Thr136Ala) c.259A>G (p.Thr87Ala) c.367A>G (p.Thr123Ala) c.277A>G (p.Thr93Ala) | |
11 | g.8090219A>T | CA379563175 | TUB | c.241A>T (p.Thr81Ser) c.406A>T (p.Thr136Ser) c.259A>T (p.Thr87Ser) c.367A>T (p.Thr123Ser) c.277A>T (p.Thr93Ser) |