Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.8090126G>ACA379562771TUBc.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
11g.8090126G>CCA379562773TUBc.148G>C (p.Ala50Pro)
c.313G>C (p.Ala105Pro)
c.166G>C (p.Ala56Pro)
c.274G>C (p.Ala92Pro)
c.184G>C (p.Ala62Pro)
11g.8090126G=CA1950953363TUBc.148G= (p.Ala50=)
c.313G= (p.Ala105=)
c.166G= (p.Ala56=)
c.274G= (p.Ala92=)
c.184G= (p.Ala62=)
11g.8090126G>TCA5870972TUBc.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
11g.8090127C>ACA379562776TUBc.149C>A (p.Ala50Asp)
c.314C>A (p.Ala105Asp)
c.167C>A (p.Ala56Asp)
c.275C>A (p.Ala92Asp)
c.185C>A (p.Ala62Asp)
11g.8090127C=CA1950953369TUBc.149C= (p.Ala50=)
c.314C= (p.Ala105=)
c.167C= (p.Ala56=)
c.275C= (p.Ala92=)
c.185C= (p.Ala62=)
11g.8090127C>GCA379562777TUBc.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
11g.8090127C>TCA5870973TUBc.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
11g.8090128C>ACA5870974TUBc.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
11g.8090128C=CA1950953375TUBc.150C= (p.Ala50=)
c.315C= (p.Ala105=)
c.168C= (p.Ala56=)
c.276C= (p.Ala92=)
c.186C= (p.Ala62=)
11g.8090128C>GCA473009064TUBc.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
11g.8090128C>TCA473009065TUBc.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
11g.8090129A>CCA379562783TUBc.151A>C (p.Asn51His)
c.316A>C (p.Asn106His)
c.169A>C (p.Asn57His)
c.277A>C (p.Asn93His)
c.187A>C (p.Asn63His)
11g.8090129A>GCA379562781TUBc.151A>G (p.Asn51Asp)
c.316A>G (p.Asn106Asp)
c.169A>G (p.Asn57Asp)
c.277A>G (p.Asn93Asp)
c.187A>G (p.Asn63Asp)
11g.8090129A>TCA379562784TUBc.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
11g.8090130A=CA1950953378TUBc.152A= (p.Asn51=)
c.317A= (p.Asn106=)
c.170A= (p.Asn57=)
c.278A= (p.Asn93=)
c.188A= (p.Asn63=)
11g.8090130A>CCA379562787TUBc.152A>C (p.Asn51Thr)
c.317A>C (p.Asn106Thr)
c.170A>C (p.Asn57Thr)
c.278A>C (p.Asn93Thr)
c.188A>C (p.Asn63Thr)
11g.8090130A>GCA379562790TUBc.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
11g.8090130A>TCA379562789TUBc.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
11g.8090131T>ACA379562791TUBc.153T>A (p.Asn51Lys)
c.318T>A (p.Asn106Lys)
c.171T>A (p.Asn57Lys)
c.279T>A (p.Asn93Lys)
c.189T>A (p.Asn63Lys)
11g.8090131T>CCA473009066TUBc.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
11g.8090131T>GCA5870975TUBc.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
11g.8090131T=CA1950953382TUBc.153T= (p.Asn51=)
c.318T= (p.Asn106=)
c.171T= (p.Asn57=)
c.279T= (p.Asn93=)
c.189T= (p.Asn63=)
11g.8090132G>ACA379562793TUBc.154G>A (p.Ala52Thr)
c.319G>A (p.Ala107Thr)
c.172G>A (p.Ala58Thr)
c.280G>A (p.Ala94Thr)
c.190G>A (p.Ala64Thr)
11g.8090132G>CCA379562795TUBc.154G>C (p.Ala52Pro)
c.319G>C (p.Ala107Pro)
c.172G>C (p.Ala58Pro)
c.280G>C (p.Ala94Pro)
c.190G>C (p.Ala64Pro)
11g.8090132G>TCA379562796TUBc.154G>T (p.Ala52Ser)
c.319G>T (p.Ala107Ser)
c.172G>T (p.Ala58Ser)
c.280G>T (p.Ala94Ser)
c.190G>T (p.Ala64Ser)
11g.8090133C>ACA379562798TUBc.155C>A (p.Ala52Glu)
c.320C>A (p.Ala107Glu)
c.173C>A (p.Ala58Glu)
c.281C>A (p.Ala94Glu)
c.191C>A (p.Ala64Glu)
11g.8090133C=CA1950953387TUBc.155C= (p.Ala52=)
c.320C= (p.Ala107=)
c.173C= (p.Ala58=)
c.281C= (p.Ala94=)
c.191C= (p.Ala64=)
11g.8090133C>GCA379562800TUBc.155C>G (p.Ala52Gly)
c.320C>G (p.Ala107Gly)
c.173C>G (p.Ala58Gly)
c.281C>G (p.Ala94Gly)
c.191C>G (p.Ala64Gly)
11g.8090133C>TCA379562801TUBc.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
11g.8090134A=CA1950953391TUBc.156A= (p.Ala52=)
c.321A= (p.Ala107=)
c.174A= (p.Ala58=)
c.282A= (p.Ala94=)
c.192A= (p.Ala64=)
11g.8090134A>CCA473009067TUBc.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
11g.8090134A>GCA473009068TUBc.156A>G (p.Ala52=)
c.321A>G (p.Ala107=)
c.174A>G (p.Ala58=)
c.282A>G (p.Ala94=)
c.192A>G (p.Ala64=)
11g.8090134A>TCA217415572TUBc.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
11g.8090135G>ACA379562803TUBc.157G>A (p.Asp53Asn)
c.322G>A (p.Asp108Asn)
c.175G>A (p.Asp59Asn)
c.283G>A (p.Asp95Asn)
c.193G>A (p.Asp65Asn)
11g.8090135G>CCA379562805TUBc.157G>C (p.Asp53His)
c.322G>C (p.Asp108His)
c.175G>C (p.Asp59His)
c.283G>C (p.Asp95His)
c.193G>C (p.Asp65His)
11g.8090135G=CA1950953396TUBc.157G= (p.Asp53=)
c.322G= (p.Asp108=)
c.175G= (p.Asp59=)
c.283G= (p.Asp95=)
c.193G= (p.Asp65=)
11g.8090135G>TCA5870976TUBc.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
11g.8090136A>CCA379562808TUBc.158A>C (p.Asp53Ala)
c.323A>C (p.Asp108Ala)
c.176A>C (p.Asp59Ala)
c.284A>C (p.Asp95Ala)
c.194A>C (p.Asp65Ala)
11g.8090136A>GCA379562809TUBc.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
11g.8090136A>TCA379562811TUBc.158A>T (p.Asp53Val)
c.323A>T (p.Asp108Val)
c.176A>T (p.Asp59Val)
c.284A>T (p.Asp95Val)
c.194A>T (p.Asp65Val)
11g.8090137T>ACA379562813TUBc.159T>A (p.Asp53Glu)
c.324T>A (p.Asp108Glu)
c.177T>A (p.Asp59Glu)
c.285T>A (p.Asp95Glu)
c.195T>A (p.Asp65Glu)
11g.8090137T>CCA473009069TUBc.159T>C (p.Asp53=)
c.324T>C (p.Asp108=)
c.177T>C (p.Asp59=)
c.285T>C (p.Asp95=)
c.195T>C (p.Asp65=)
11g.8090137T>GCA379562815TUBc.159T>G (p.Asp53Glu)
c.324T>G (p.Asp108Glu)
c.177T>G (p.Asp59Glu)
c.285T>G (p.Asp95Glu)
c.195T>G (p.Asp65Glu)
11g.8090138G>ACA379562818TUBc.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
11g.8090138G>CCA379562820TUBc.160G>C (p.Gly54Arg)
c.325G>C (p.Gly109Arg)
c.178G>C (p.Gly60Arg)
c.286G>C (p.Gly96Arg)
c.196G>C (p.Gly66Arg)
11g.8090138G>TCA379562822TUBc.160G>T (p.Gly54Trp)
c.325G>T (p.Gly109Trp)
c.178G>T (p.Gly60Trp)
c.286G>T (p.Gly96Trp)
c.196G>T (p.Gly66Trp)
11g.8090138_8090153delinsGGGCGGCCCCGGAGCCCA1950953402TUBc.160_175delinsGGGCGGCCCCGGAGCC (p.Gly54=)
c.325_340delinsGGGCGGCCCCGGAGCC (p.Gly109=)
c.178_193delinsGGGCGGCCCCGGAGCC (p.Gly60=)
c.286_301delinsGGGCGGCCCCGGAGCC (p.Gly96=)
c.196_211delinsGGGCGGCCCCGGAGCC (p.Gly66=)
11g.8090139G>ACA379562824TUBc.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
11g.8090139G>CCA379562826TUBc.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
11g.8090139G=CA1950953406TUBc.161G= (p.Gly54=)
c.326G= (p.Gly109=)
c.179G= (p.Gly60=)
c.287G= (p.Gly96=)
c.197G= (p.Gly66=)
11g.8090139G>TCA379562828TUBc.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
11g.8090144_8090158delCA680747440TUBc.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
11g.8090140G>ACA473009070TUBc.162G>A (p.Gly54=)
c.327G>A (p.Gly109=)
c.180G>A (p.Gly60=)
c.288G>A (p.Gly96=)
c.198G>A (p.Gly66=)
11g.8090140G>CCA473009072TUBc.162G>C (p.Gly54=)
c.327G>C (p.Gly109=)
c.180G>C (p.Gly60=)
c.288G>C (p.Gly96=)
c.198G>C (p.Gly66=)
11g.8090140G>TCA473009071TUBc.162G>T (p.Gly54=)
c.327G>T (p.Gly109=)
c.180G>T (p.Gly60=)
c.288G>T (p.Gly96=)
c.198G>T (p.Gly66=)
11g.8090141C>ACA473009073TUBc.163C>A (p.Arg55=)
c.328C>A (p.Arg110=)
c.181C>A (p.Arg61=)
c.289C>A (p.Arg97=)
c.199C>A (p.Arg67=)
11g.8090141C=CA1950953411TUBc.163C= (p.Arg55=)
c.328C= (p.Arg110=)
c.181C= (p.Arg61=)
c.289C= (p.Arg97=)
c.199C= (p.Arg67=)
11g.8090141C>GCA379562831TUBc.163C>G (p.Arg55Gly)
c.328C>G (p.Arg110Gly)
c.181C>G (p.Arg61Gly)
c.289C>G (p.Arg97Gly)
c.199C>G (p.Arg67Gly)
11g.8090141C>TCA5870977TUBc.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
11g.8090142G>ACA5870978TUBc.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
11g.8090142G>CCA379562836TUBc.164G>C (p.Arg55Pro)
c.329G>C (p.Arg110Pro)
c.182G>C (p.Arg61Pro)
c.290G>C (p.Arg97Pro)
c.200G>C (p.Arg67Pro)
11g.8090142G=CA1950953421TUBc.164G= (p.Arg55=)
c.329G= (p.Arg110=)
c.182G= (p.Arg61=)
c.290G= (p.Arg97=)
c.200G= (p.Arg67=)
11g.8090142G>TCA379562838TUBc.164G>T (p.Arg55Leu)
c.329G>T (p.Arg110Leu)
c.182G>T (p.Arg61Leu)
c.290G>T (p.Arg97Leu)
c.200G>T (p.Arg67Leu)
11g.8090143G>ACA473009075TUBc.165G>A (p.Arg55=)
c.330G>A (p.Arg110=)
c.183G>A (p.Arg61=)
c.291G>A (p.Arg97=)
c.201G>A (p.Arg67=)
11g.8090143G>CCA473009076TUBc.165G>C (p.Arg55=)
c.330G>C (p.Arg110=)
c.183G>C (p.Arg61=)
c.291G>C (p.Arg97=)
c.201G>C (p.Arg67=)
11g.8090143G>TCA473009077TUBc.165G>T (p.Arg55=)
c.330G>T (p.Arg110=)
c.183G>T (p.Arg61=)
c.291G>T (p.Arg97=)
c.201G>T (p.Arg67=)
11g.8090144C>ACA379562839TUBc.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
11g.8090144C=CA1950953423TUBc.166C= (p.Pro56=)
c.331C= (p.Pro111=)
c.184C= (p.Pro62=)
c.292C= (p.Pro98=)
c.202C= (p.Pro68=)
11g.8090144C>GCA379562842TUBc.166C>G (p.Pro56Ala)
c.331C>G (p.Pro111Ala)
c.184C>G (p.Pro62Ala)
c.292C>G (p.Pro98Ala)
c.202C>G (p.Pro68Ala)
11g.8090144C>TCA5870979TUBc.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
11g.8090145C>ACA379562844TUBc.167C>A (p.Pro56His)
c.332C>A (p.Pro111His)
c.185C>A (p.Pro62His)
c.293C>A (p.Pro98His)
c.203C>A (p.Pro68His)
11g.8090145C=CA1950953426TUBc.167C= (p.Pro56=)
c.332C= (p.Pro111=)
c.185C= (p.Pro62=)
c.293C= (p.Pro98=)
c.203C= (p.Pro68=)
11g.8090145C>GCA379562846TUBc.167C>G (p.Pro56Arg)
c.332C>G (p.Pro111Arg)
c.185C>G (p.Pro62Arg)
c.293C>G (p.Pro98Arg)
c.203C>G (p.Pro68Arg)
11g.8090145C>TCA379562848TUBc.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
11g.8090150_8090164delCA2612330585TUBc.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
11g.8090146C>ACA473009078TUBc.168C>A (p.Pro56=)
c.333C>A (p.Pro111=)
c.186C>A (p.Pro62=)
c.294C>A (p.Pro98=)
c.204C>A (p.Pro68=)
11g.8090146C=CA1950953431TUBc.168C= (p.Pro56=)
c.333C= (p.Pro111=)
c.186C= (p.Pro62=)
c.294C= (p.Pro98=)
c.204C= (p.Pro68=)
11g.8090146C>GCA473009079TUBc.168C>G (p.Pro56=)
c.333C>G (p.Pro111=)
c.186C>G (p.Pro62=)
c.294C>G (p.Pro98=)
c.204C>G (p.Pro68=)
11g.8090146C>TCA217415581TUBc.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
11g.8090150_8090155dupCA5870980TUBc.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
11g.8090147C>ACA473009080TUBc.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
11g.8090147C=CA1950953436TUBc.169C= (p.Arg57=)
c.334C= (p.Arg112=)
c.187C= (p.Arg63=)
c.295C= (p.Arg99=)
c.205C= (p.Arg69=)
11g.8090147C>GCA379562851TUBc.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
11g.8090147C>TCA379562853TUBc.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
11g.8090148G>ACA5870981TUBc.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
11g.8090148G>CCA379562856TUBc.170G>C (p.Arg57Pro)
c.335G>C (p.Arg112Pro)
c.188G>C (p.Arg63Pro)
c.296G>C (p.Arg99Pro)
c.206G>C (p.Arg69Pro)
11g.8090148G=CA1950953441TUBc.170G= (p.Arg57=)
c.335G= (p.Arg112=)
c.188G= (p.Arg63=)
c.296G= (p.Arg99=)
c.206G= (p.Arg69=)
11g.8090148G>TCA379562858TUBc.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
11g.8090148_8090149delinsAACA217415589TUBc.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
11g.8090148_8090149delinsGGCA1950953445TUBc.170_171delinsGG (p.Arg57=)
c.335_336delinsGG (p.Arg112=)
c.188_189delinsGG (p.Arg63=)
c.296_297delinsGG (p.Arg99=)
c.206_207delinsGG (p.Arg69=)
11g.8090149G>ACA5870982TUBc.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
11g.8090149G>CCA473009081TUBc.171G>C (p.Arg57=)
c.336G>C (p.Arg112=)
c.189G>C (p.Arg63=)
c.297G>C (p.Arg99=)
c.207G>C (p.Arg69=)
11g.8090149G=CA1950953449TUBc.171G= (p.Arg57=)
c.336G= (p.Arg112=)
c.189G= (p.Arg63=)
c.297G= (p.Arg99=)
c.207G= (p.Arg69=)
11g.8090149G>TCA473009082TUBc.171G>T (p.Arg57=)
c.336G>T (p.Arg112=)
c.189G>T (p.Arg63=)
c.297G>T (p.Arg99=)
c.207G>T (p.Arg69=)
11g.8090150A=CA1950953452TUBc.172A= (p.Ser58=)
c.337A= (p.Ser113=)
c.190A= (p.Ser64=)
c.298A= (p.Ser100=)
c.208A= (p.Ser70=)
11g.8090150A>CCA379562865TUBc.172A>C (p.Ser58Arg)
c.337A>C (p.Ser113Arg)
c.190A>C (p.Ser64Arg)
c.298A>C (p.Ser100Arg)
c.208A>C (p.Ser70Arg)
11g.8090150A>GCA379562863TUBc.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
11g.8090150A>TCA379562861TUBc.172A>T (p.Ser58Cys)
c.337A>T (p.Ser113Cys)
c.190A>T (p.Ser64Cys)
c.298A>T (p.Ser100Cys)
c.208A>T (p.Ser70Cys)
11g.8090151G>ACA379562866TUBc.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
11g.8090151G>CCA379562868TUBc.173G>C (p.Ser58Thr)
c.338G>C (p.Ser113Thr)
c.191G>C (p.Ser64Thr)
c.299G>C (p.Ser100Thr)
c.209G>C (p.Ser70Thr)
11g.8090151G=CA1950953455TUBc.173G= (p.Ser58=)
c.338G= (p.Ser113=)
c.191G= (p.Ser64=)
c.299G= (p.Ser100=)
c.209G= (p.Ser70=)
11g.8090151G>TCA379562870TUBc.173G>T (p.Ser58Ile)
c.338G>T (p.Ser113Ile)
c.191G>T (p.Ser64Ile)
c.299G>T (p.Ser100Ile)
c.209G>T (p.Ser70Ile)
11g.8090152C>ACA379562871TUBc.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
11g.8090152C=CA1950953461TUBc.174C= (p.Ser58=)
c.339C= (p.Ser113=)
c.192C= (p.Ser64=)
c.300C= (p.Ser100=)
c.210C= (p.Ser70=)
11g.8090152C>GCA379562873TUBc.174C>G (p.Ser58Arg)
c.339C>G (p.Ser113Arg)
c.192C>G (p.Ser64Arg)
c.300C>G (p.Ser100Arg)
c.210C>G (p.Ser70Arg)
11g.8090152C>TCA473009083TUBc.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
11g.8090153C>ACA473009084TUBc.175C>A (p.Arg59=)
c.340C>A (p.Arg114=)
c.193C>A (p.Arg65=)
c.301C>A (p.Arg101=)
c.211C>A (p.Arg71=)
11g.8090153C=CA1950953466TUBc.175C= (p.Arg59=)
c.340C= (p.Arg114=)
c.193C= (p.Arg65=)
c.301C= (p.Arg101=)
c.211C= (p.Arg71=)
11g.8090153C>GCA379562875TUBc.175C>G (p.Arg59Gly)
c.340C>G (p.Arg114Gly)
c.193C>G (p.Arg65Gly)
c.301C>G (p.Arg101Gly)
c.211C>G (p.Arg71Gly)
11g.8090153C>TCA5870983TUBc.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
11g.8090154G>ACA5870984TUBc.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
11g.8090154G>CCA379562880TUBc.176G>C (p.Arg59Pro)
c.341G>C (p.Arg114Pro)
c.194G>C (p.Arg65Pro)
c.302G>C (p.Arg101Pro)
c.212G>C (p.Arg71Pro)
11g.8090154G=CA1950953470TUBc.176G= (p.Arg59=)
c.341G= (p.Arg114=)
c.194G= (p.Arg65=)
c.302G= (p.Arg101=)
c.212G= (p.Arg71=)
11g.8090154G>TCA379562881TUBc.176G>T (p.Arg59Leu)
c.341G>T (p.Arg114Leu)
c.194G>T (p.Arg65Leu)
c.302G>T (p.Arg101Leu)
c.212G>T (p.Arg71Leu)
11g.8090155G>ACA473009085TUBc.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
11g.8090155G>CCA473009086TUBc.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
11g.8090155G=CA1950953472TUBc.177G= (p.Arg59=)
c.342G= (p.Arg114=)
c.195G= (p.Arg65=)
c.303G= (p.Arg101=)
c.213G= (p.Arg71=)
11g.8090155G>TCA473009087TUBc.177G>T (p.Arg59=)
c.342G>T (p.Arg114=)
c.195G>T (p.Arg65=)
c.303G>T (p.Arg101=)
c.213G>T (p.Arg71=)
11g.8090156C>ACA473009088TUBc.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
11g.8090156C=CA1950953475TUBc.178C= (p.Arg60=)
c.343C= (p.Arg115=)
c.196C= (p.Arg66=)
c.304C= (p.Arg102=)
c.214C= (p.Arg72=)
11g.8090156C>GCA379562884TUBc.178C>G (p.Arg60Gly)
c.343C>G (p.Arg115Gly)
c.196C>G (p.Arg66Gly)
c.304C>G (p.Arg102Gly)
c.214C>G (p.Arg72Gly)
11g.8090156C>TCA379562885TUBc.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
11g.8090157G>ACA5870985TUBc.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
11g.8090157G>CCA379562890TUBc.179G>C (p.Arg60Pro)
c.344G>C (p.Arg115Pro)
c.197G>C (p.Arg66Pro)
c.305G>C (p.Arg102Pro)
c.215G>C (p.Arg72Pro)
11g.8090157G=CA1950953478TUBc.179G= (p.Arg60=)
c.344G= (p.Arg115=)
c.197G= (p.Arg66=)
c.305G= (p.Arg102=)
c.215G= (p.Arg72=)
11g.8090157G>TCA379562887TUBc.179G>T (p.Arg60Leu)
c.344G>T (p.Arg115Leu)
c.197G>T (p.Arg66Leu)
c.305G>T (p.Arg102Leu)
c.215G>T (p.Arg72Leu)
11g.8090158G>ACA473009089TUBc.180G>A (p.Arg60=)
c.345G>A (p.Arg115=)
c.198G>A (p.Arg66=)
c.306G>A (p.Arg102=)
c.216G>A (p.Arg72=)
11g.8090158G>CCA473009090TUBc.180G>C (p.Arg60=)
c.345G>C (p.Arg115=)
c.198G>C (p.Arg66=)
c.306G>C (p.Arg102=)
c.216G>C (p.Arg72=)
11g.8090158G>TCA473009091TUBc.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
11g.8090159G>ACA379562896TUBc.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
11g.8090159G>CCA379562892TUBc.181G>C (p.Ala61Pro)
c.346G>C (p.Ala116Pro)
c.199G>C (p.Ala67Pro)
c.307G>C (p.Ala103Pro)
c.217G>C (p.Ala73Pro)
11g.8090159G>TCA379562894TUBc.181G>T (p.Ala61Ser)
c.346G>T (p.Ala116Ser)
c.199G>T (p.Ala67Ser)
c.307G>T (p.Ala103Ser)
c.217G>T (p.Ala73Ser)
11g.8090159_8090160delinsGCCA1950953481TUBc.181_182delinsGC (p.Ala61=)
c.346_347delinsGC (p.Ala116=)
c.199_200delinsGC (p.Ala67=)
c.307_308delinsGC (p.Ala103=)
c.217_218delinsGC (p.Ala73=)
11g.8090160C>ACA379562899TUBc.182C>A (p.Ala61Asp)
c.347C>A (p.Ala116Asp)
c.200C>A (p.Ala67Asp)
c.308C>A (p.Ala103Asp)
c.218C>A (p.Ala73Asp)
11g.8090160C>GCA379562900TUBc.182C>G (p.Ala61Gly)
c.347C>G (p.Ala116Gly)
c.200C>G (p.Ala67Gly)
c.308C>G (p.Ala103Gly)
c.218C>G (p.Ala73Gly)
11g.8090160C>TCA379562901TUBc.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
11g.8090162delCA680747486TUBc.184del (p.Arg62GlyfsTer?)
c.349del (p.Arg117GlyfsTer?)
c.202del (p.Arg68GlyfsTer?)
c.310del (p.Arg104GlyfsTer?)
c.220del (p.Arg74GlyfsTer?)
 dbSNP
11g.8090161C>ACA473009092TUBc.183C>A (p.Ala61=)
c.348C>A (p.Ala116=)
c.201C>A (p.Ala67=)
c.309C>A (p.Ala103=)
c.219C>A (p.Ala73=)
11g.8090161C=CA1950953487TUBc.183C= (p.Ala61=)
c.348C= (p.Ala116=)
c.201C= (p.Ala67=)
c.309C= (p.Ala103=)
c.219C= (p.Ala73=)
11g.8090161C>GCA473009093TUBc.183C>G (p.Ala61=)
c.348C>G (p.Ala116=)
c.201C>G (p.Ala67=)
c.309C>G (p.Ala103=)
c.219C>G (p.Ala73=)
11g.8090161C>TCA217415615TUBc.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
11g.8090162C>ACA5870987TUBc.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
11g.8090162C=CA1950953492TUBc.184C= (p.Arg62=)
c.349C= (p.Arg117=)
c.202C= (p.Arg68=)
c.310C= (p.Arg104=)
c.220C= (p.Arg74=)
11g.8090162C>GCA379562908TUBc.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
11g.8090162C>TCA5870986TUBc.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
11g.8090163G>ACA5870989TUBc.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
11g.8090163G>CCA379562912TUBc.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
11g.8090163G=CA1950953497TUBc.185G= (p.Arg62=)
c.350G= (p.Arg117=)
c.203G= (p.Arg68=)
c.311G= (p.Arg104=)
c.221G= (p.Arg74=)
11g.8090163G>TCA5870988TUBc.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
11g.8090164G>ACA473009094TUBc.186G>A (p.Arg62=)
c.351G>A (p.Arg117=)
c.204G>A (p.Arg68=)
c.312G>A (p.Arg104=)
c.222G>A (p.Arg74=)
11g.8090164G>CCA473009096TUBc.186G>C (p.Arg62=)
c.351G>C (p.Arg117=)
c.204G>C (p.Arg68=)
c.312G>C (p.Arg104=)
c.222G>C (p.Arg74=)
11g.8090164G>TCA473009095TUBc.186G>T (p.Arg62=)
c.351G>T (p.Arg117=)
c.204G>T (p.Arg68=)
c.312G>T (p.Arg104=)
c.222G>T (p.Arg74=)
11g.8090164_8090165delinsGCCA1950953499TUBc.186_187delinsGC (p.Arg62=)
c.351_352delinsGC (p.Arg117=)
c.204_205delinsGC (p.Arg68=)
c.312_313delinsGC (p.Arg104=)
c.222_223delinsGC (p.Arg74=)
11g.8090165delCA5870990TUBc.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
11g.8090165C>ACA379562920TUBc.187C>A (p.Gln63Lys)
c.352C>A (p.Gln118Lys)
c.205C>A (p.Gln69Lys)
c.313C>A (p.Gln105Lys)
c.223C>A (p.Gln75Lys)
11g.8090165C>GCA379562917TUBc.187C>G (p.Gln63Glu)
c.352C>G (p.Gln118Glu)
c.205C>G (p.Gln69Glu)
c.313C>G (p.Gln105Glu)
c.223C>G (p.Gln75Glu)
11g.8090165C>TCA379562916TUBc.187C>T (p.Gln63Ter)
c.352C>T (p.Gln118Ter)
c.205C>T (p.Gln69Ter)
c.313C>T (p.Gln105Ter)
c.223C>T (p.Gln75Ter)
11g.8090166A>CCA379562923TUBc.188A>C (p.Gln63Pro)
c.353A>C (p.Gln118Pro)
c.206A>C (p.Gln69Pro)
c.314A>C (p.Gln105Pro)
c.224A>C (p.Gln75Pro)
11g.8090166A>GCA379562924TUBc.188A>G (p.Gln63Arg)
c.353A>G (p.Gln118Arg)
c.206A>G (p.Gln69Arg)
c.314A>G (p.Gln105Arg)
c.224A>G (p.Gln75Arg)
11g.8090166A>TCA379562926TUBc.188A>T (p.Gln63Leu)
c.353A>T (p.Gln118Leu)
c.206A>T (p.Gln69Leu)
c.314A>T (p.Gln105Leu)
c.224A>T (p.Gln75Leu)
11g.8090167G>ACA473009097TUBc.189G>A (p.Gln63=)
c.354G>A (p.Gln118=)
c.207G>A (p.Gln69=)
c.315G>A (p.Gln105=)
c.225G>A (p.Gln75=)
11g.8090167G>CCA379562928TUBc.189G>C (p.Gln63His)
c.354G>C (p.Gln118His)
c.207G>C (p.Gln69His)
c.315G>C (p.Gln105His)
c.225G>C (p.Gln75His)
11g.8090167G>TCA379562930TUBc.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
11g.8090168T>ACA379562932TUBc.190T>A (p.Ser64Thr)
c.355T>A (p.Ser119Thr)
c.208T>A (p.Ser70Thr)
c.316T>A (p.Ser106Thr)
c.226T>A (p.Ser76Thr)
11g.8090168T>CCA5870991TUBc.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
11g.8090168T>GCA379562935TUBc.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
11g.8090168T=CA1950953504TUBc.190T= (p.Ser64=)
c.355T= (p.Ser119=)
c.208T= (p.Ser70=)
c.316T= (p.Ser106=)
c.226T= (p.Ser76=)
11g.8090169C>ACA379562938TUBc.191C>A (p.Ser64Ter)
c.356C>A (p.Ser119Ter)
c.209C>A (p.Ser70Ter)
c.317C>A (p.Ser106Ter)
c.227C>A (p.Ser76Ter)
11g.8090169C>GCA379562940TUBc.191C>G (p.Ser64Ter)
c.356C>G (p.Ser119Ter)
c.209C>G (p.Ser70Ter)
c.317C>G (p.Ser106Ter)
c.227C>G (p.Ser76Ter)
11g.8090169C>TCA379562942TUBc.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
11g.8090170A>CCA473009098TUBc.192A>C (p.Ser64=)
c.357A>C (p.Ser119=)
c.210A>C (p.Ser70=)
c.318A>C (p.Ser106=)
c.228A>C (p.Ser76=)
11g.8090170A>GCA473009099TUBc.192A>G (p.Ser64=)
c.357A>G (p.Ser119=)
c.210A>G (p.Ser70=)
c.318A>G (p.Ser106=)
c.228A>G (p.Ser76=)
11g.8090170A>TCA473009100TUBc.192A>T (p.Ser64=)
c.357A>T (p.Ser119=)
c.210A>T (p.Ser70=)
c.318A>T (p.Ser106=)
c.228A>T (p.Ser76=)
11g.8090171G>ACA379562949TUBc.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
11g.8090171G>CCA379562946TUBc.193G>C (p.Glu65Gln)
c.358G>C (p.Glu120Gln)
c.211G>C (p.Glu71Gln)
c.319G>C (p.Glu107Gln)
c.229G>C (p.Glu77Gln)
11g.8090171G=CA1950953508TUBc.193G= (p.Glu65=)
c.358G= (p.Glu120=)
c.211G= (p.Glu71=)
c.319G= (p.Glu107=)
c.229G= (p.Glu77=)
11g.8090171G>TCA379562944TUBc.193G>T (p.Glu65Ter)
c.358G>T (p.Glu120Ter)
c.211G>T (p.Glu71Ter)
c.319G>T (p.Glu107Ter)
c.229G>T (p.Glu77Ter)
11g.8090172A>CCA379562951TUBc.194A>C (p.Glu65Ala)
c.359A>C (p.Glu120Ala)
c.212A>C (p.Glu71Ala)
c.320A>C (p.Glu107Ala)
c.230A>C (p.Glu77Ala)
11g.8090172A>GCA379562953TUBc.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
11g.8090172A>TCA379562955TUBc.194A>T (p.Glu65Val)
c.359A>T (p.Glu120Val)
c.212A>T (p.Glu71Val)
c.320A>T (p.Glu107Val)
c.230A>T (p.Glu77Val)
11g.8090173G>ACA473009101TUBc.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
11g.8090173G>CCA379562958TUBc.195G>C (p.Glu65Asp)
c.360G>C (p.Glu120Asp)
c.213G>C (p.Glu71Asp)
c.321G>C (p.Glu107Asp)
c.231G>C (p.Glu77Asp)
11g.8090173G=CA1950953511TUBc.195G= (p.Glu65=)
c.360G= (p.Glu120=)
c.213G= (p.Glu71=)
c.321G= (p.Glu107=)
c.231G= (p.Glu77=)
11g.8090173G>TCA379562959TUBc.195G>T (p.Glu65Asp)
c.360G>T (p.Glu120Asp)
c.213G>T (p.Glu71Asp)
c.321G>T (p.Glu107Asp)
c.231G>T (p.Glu77Asp)
11g.8090174G>ACA379562961TUBc.196G>A (p.Glu66Lys)
c.361G>A (p.Glu121Lys)
c.214G>A (p.Glu72Lys)
c.322G>A (p.Glu108Lys)
c.232G>A (p.Glu78Lys)
11g.8090174G>CCA379562963TUBc.196G>C (p.Glu66Gln)
c.361G>C (p.Glu121Gln)
c.214G>C (p.Glu72Gln)
c.322G>C (p.Glu108Gln)
c.232G>C (p.Glu78Gln)
11g.8090174G>TCA379562965TUBc.196G>T (p.Glu66Ter)
c.361G>T (p.Glu121Ter)
c.214G>T (p.Glu72Ter)
c.322G>T (p.Glu108Ter)
c.232G>T (p.Glu78Ter)
11g.8090175A>CCA379562968TUBc.197A>C (p.Glu66Ala)
c.362A>C (p.Glu121Ala)
c.215A>C (p.Glu72Ala)
c.323A>C (p.Glu108Ala)
c.233A>C (p.Glu78Ala)
11g.8090175A>GCA379562969TUBc.197A>G (p.Glu66Gly)
c.362A>G (p.Glu121Gly)
c.215A>G (p.Glu72Gly)
c.323A>G (p.Glu108Gly)
c.233A>G (p.Glu78Gly)
11g.8090175A>TCA379562970TUBc.197A>T (p.Glu66Val)
c.362A>T (p.Glu121Val)
c.215A>T (p.Glu72Val)
c.323A>T (p.Glu108Val)
c.233A>T (p.Glu78Val)
11g.8090176A>CCA379562972TUBc.198A>C (p.Glu66Asp)
c.363A>C (p.Glu121Asp)
c.216A>C (p.Glu72Asp)
c.324A>C (p.Glu108Asp)
c.234A>C (p.Glu78Asp)
11g.8090176A>GCA473009102TUBc.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
11g.8090176A>TCA379562974TUBc.198A>T (p.Glu66Asp)
c.363A>T (p.Glu121Asp)
c.216A>T (p.Glu72Asp)
c.324A>T (p.Glu108Asp)
c.234A>T (p.Glu78Asp)
11g.8090177C>ACA379562981TUBc.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
11g.8090177C=CA1950953514TUBc.199C= (p.Gln67=)
c.364C= (p.Gln122=)
c.217C= (p.Gln73=)
c.325C= (p.Gln109=)
c.235C= (p.Gln79=)
11g.8090177C>GCA379562977TUBc.199C>G (p.Gln67Glu)
c.364C>G (p.Gln122Glu)
c.217C>G (p.Gln73Glu)
c.325C>G (p.Gln109Glu)
c.235C>G (p.Gln79Glu)
11g.8090177C>TCA379562979TUBc.199C>T (p.Gln67Ter)
c.364C>T (p.Gln122Ter)
c.217C>T (p.Gln73Ter)
c.325C>T (p.Gln109Ter)
c.235C>T (p.Gln79Ter)
11g.8090178A>CCA379562983TUBc.200A>C (p.Gln67Pro)
c.365A>C (p.Gln122Pro)
c.218A>C (p.Gln73Pro)
c.326A>C (p.Gln109Pro)
c.236A>C (p.Gln79Pro)
11g.8090178A>GCA379562985TUBc.200A>G (p.Gln67Arg)
c.365A>G (p.Gln122Arg)
c.218A>G (p.Gln73Arg)
c.326A>G (p.Gln109Arg)
c.236A>G (p.Gln79Arg)
11g.8090178A>TCA379562987TUBc.200A>T (p.Gln67Leu)
c.365A>T (p.Gln122Leu)
c.218A>T (p.Gln73Leu)
c.326A>T (p.Gln109Leu)
c.236A>T (p.Gln79Leu)
11g.8090178_8090192delinsAAGCCCCCCTGGTGGCA1950953517TUBc.200_214delinsAAGCCCCCCTGGTGG (p.Gln67=)
c.365_379delinsAAGCCCCCCTGGTGG (p.Gln122=)
c.218_232delinsAAGCCCCCCTGGTGG (p.Gln73=)
c.326_340delinsAAGCCCCCCTGGTGG (p.Gln109=)
c.236_250delinsAAGCCCCCCTGGTGG (p.Gln79=)
11g.8090179A>CCA379562989TUBc.201A>C (p.Gln67His)
c.366A>C (p.Gln122His)
c.219A>C (p.Gln73His)
c.327A>C (p.Gln109His)
c.237A>C (p.Gln79His)
11g.8090179A>GCA473009103TUBc.201A>G (p.Gln67=)
c.366A>G (p.Gln122=)
c.219A>G (p.Gln73=)
c.327A>G (p.Gln109=)
c.237A>G (p.Gln79=)
11g.8090179A>TCA379562991TUBc.201A>T (p.Gln67His)
c.366A>T (p.Gln122His)
c.219A>T (p.Gln73His)
c.327A>T (p.Gln109His)
c.237A>T (p.Gln79His)
11g.8090181_8090194delCA5870992TUBc.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
11g.8090180G>ACA379562995TUBc.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
11g.8090180G>CCA379562997TUBc.202G>C (p.Ala68Pro)
c.367G>C (p.Ala123Pro)
c.220G>C (p.Ala74Pro)
c.328G>C (p.Ala110Pro)
c.238G>C (p.Ala80Pro)
11g.8090180G=CA1950953522TUBc.202G= (p.Ala68=)
c.367G= (p.Ala123=)
c.220G= (p.Ala74=)
c.328G= (p.Ala110=)
c.238G= (p.Ala80=)
11g.8090180G>TCA379562999TUBc.202G>T (p.Ala68Ser)
c.367G>T (p.Ala123Ser)
c.220G>T (p.Ala74Ser)
c.328G>T (p.Ala110Ser)
c.238G>T (p.Ala80Ser)
11g.8090181C>ACA379563001TUBc.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
11g.8090181C=CA1950953525TUBc.203C= (p.Ala68=)
c.368C= (p.Ala123=)
c.221C= (p.Ala74=)
c.329C= (p.Ala110=)
c.239C= (p.Ala80=)
11g.8090181C>GCA379563003TUBc.203C>G (p.Ala68Gly)
c.368C>G (p.Ala123Gly)
c.221C>G (p.Ala74Gly)
c.329C>G (p.Ala110Gly)
c.239C>G (p.Ala80Gly)
11g.8090181C>TCA5870993TUBc.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
11g.8090186dupCA597441574TUBc.208dup (p.Leu70ProfsTer?)
c.373dup (p.Leu125ProfsTer?)
c.226dup (p.Leu76ProfsTer?)
c.334dup (p.Leu112ProfsTer?)
c.244dup (p.Leu82ProfsTer?)
 gnomAD v2
11g.8090183_8090186dupCA2790351904TUBc.205_208dup (p.Leu70ProfsTer?)
c.370_373dup (p.Leu125ProfsTer?)
c.223_226dup (p.Leu76ProfsTer?)
c.331_334dup (p.Leu112ProfsTer?)
c.241_244dup (p.Leu82ProfsTer?)
11g.8090186delCA473009104TUBc.208del (p.Leu70TrpfsTer?)
c.373del (p.Leu125TrpfsTer?)
c.226del (p.Leu76TrpfsTer?)
c.334del (p.Leu112TrpfsTer?)
c.244del (p.Leu82TrpfsTer?)
 gnomAD v4 COSMIC
11g.8090182C>ACA473009105TUBc.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
11g.8090182C=CA1950953531TUBc.204C= (p.Ala68=)
c.369C= (p.Ala123=)
c.222C= (p.Ala74=)
c.330C= (p.Ala110=)
c.240C= (p.Ala80=)
11g.8090182C>GCA473009106TUBc.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
11g.8090182C>TCA5870994TUBc.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
11g.8090184_8090197dupCA2612330586TUBc.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
11g.8090183C>ACA379563007TUBc.205C>A (p.Pro69Thr)
c.370C>A (p.Pro124Thr)
c.223C>A (p.Pro75Thr)
c.331C>A (p.Pro111Thr)
c.241C>A (p.Pro81Thr)
11g.8090183C=CA1950953535TUBc.205C= (p.Pro69=)
c.370C= (p.Pro124=)
c.223C= (p.Pro75=)
c.331C= (p.Pro111=)
c.241C= (p.Pro81=)
11g.8090183C>GCA379563008TUBc.205C>G (p.Pro69Ala)
c.370C>G (p.Pro124Ala)
c.223C>G (p.Pro75Ala)
c.331C>G (p.Pro111Ala)
c.241C>G (p.Pro81Ala)
11g.8090183C>TCA217415637TUBc.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
11g.8090184C>ACA379563014TUBc.206C>A (p.Pro69His)
c.371C>A (p.Pro124His)
c.224C>A (p.Pro75His)
c.332C>A (p.Pro111His)
c.242C>A (p.Pro81His)
11g.8090184C=CA1950953537TUBc.206C= (p.Pro69=)
c.371C= (p.Pro124=)
c.224C= (p.Pro75=)
c.332C= (p.Pro111=)
c.242C= (p.Pro81=)
11g.8090184C>GCA379563011TUBc.206C>G (p.Pro69Arg)
c.371C>G (p.Pro124Arg)
c.224C>G (p.Pro75Arg)
c.332C>G (p.Pro111Arg)
c.242C>G (p.Pro81Arg)
11g.8090184C>TCA379563012TUBc.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
11g.8090185C>ACA473009107TUBc.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
11g.8090185C=CA1950953541TUBc.207C= (p.Pro69=)
c.372C= (p.Pro124=)
c.225C= (p.Pro75=)
c.333C= (p.Pro111=)
c.243C= (p.Pro81=)
11g.8090185C>GCA473009108TUBc.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
11g.8090185C>TCA5870995TUBc.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
11g.8090186C>ACA379563016TUBc.208C>A (p.Leu70Met)
c.373C>A (p.Leu125Met)
c.226C>A (p.Leu76Met)
c.334C>A (p.Leu112Met)
c.244C>A (p.Leu82Met)
11g.8090186C>GCA379563018TUBc.208C>G (p.Leu70Val)
c.373C>G (p.Leu125Val)
c.226C>G (p.Leu76Val)
c.334C>G (p.Leu112Val)
c.244C>G (p.Leu82Val)
11g.8090186C>TCA473009109TUBc.208C>T (p.Leu70=)
c.373C>T (p.Leu125=)
c.226C>T (p.Leu76=)
c.334C>T (p.Leu112=)
c.244C>T (p.Leu82=)
11g.8090187delCA2790351910TUBc.209del (p.Leu70ArgfsTer?)
c.374del (p.Leu125ArgfsTer?)
c.227del (p.Leu76ArgfsTer?)
c.335del (p.Leu112ArgfsTer?)
c.245del (p.Leu82ArgfsTer?)
11g.8090187T>ACA379563025TUBc.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
11g.8090187T>CCA379563023TUBc.209T>C (p.Leu70Pro)
c.374T>C (p.Leu125Pro)
c.227T>C (p.Leu76Pro)
c.335T>C (p.Leu112Pro)
c.245T>C (p.Leu82Pro)
11g.8090187T>GCA379563021TUBc.209T>G (p.Leu70Arg)
c.374T>G (p.Leu125Arg)
c.227T>G (p.Leu76Arg)
c.335T>G (p.Leu112Arg)
c.245T>G (p.Leu82Arg)
11g.8090188G>ACA473009112TUBc.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
11g.8090188G>CCA473009111TUBc.210G>C (p.Leu70=)
c.375G>C (p.Leu125=)
c.228G>C (p.Leu76=)
c.336G>C (p.Leu112=)
c.246G>C (p.Leu82=)
11g.8090188G=CA1950953547TUBc.210G= (p.Leu70=)
c.375G= (p.Leu125=)
c.228G= (p.Leu76=)
c.336G= (p.Leu112=)
c.246G= (p.Leu82=)
11g.8090188G>TCA473009110TUBc.210G>T (p.Leu70=)
c.375G>T (p.Leu125=)
c.228G>T (p.Leu76=)
c.336G>T (p.Leu112=)
c.246G>T (p.Leu82=)
11g.8090189G>ACA379563027TUBc.211G>A (p.Val71Met)
c.376G>A (p.Val126Met)
c.229G>A (p.Val77Met)
c.337G>A (p.Val113Met)
c.247G>A (p.Val83Met)
11g.8090189G>CCA379563029TUBc.211G>C (p.Val71Leu)
c.376G>C (p.Val126Leu)
c.229G>C (p.Val77Leu)
c.337G>C (p.Val113Leu)
c.247G>C (p.Val83Leu)
11g.8090189G>TCA379563031TUBc.211G>T (p.Val71Leu)
c.376G>T (p.Val126Leu)
c.229G>T (p.Val77Leu)
c.337G>T (p.Val113Leu)
c.247G>T (p.Val83Leu)
11g.8090190T>ACA379563033TUBc.212T>A (p.Val71Glu)
c.377T>A (p.Val126Glu)
c.230T>A (p.Val77Glu)
c.338T>A (p.Val113Glu)
c.248T>A (p.Val83Glu)
11g.8090190T>CCA379563035TUBc.212T>C (p.Val71Ala)
c.377T>C (p.Val126Ala)
c.230T>C (p.Val77Ala)
c.338T>C (p.Val113Ala)
c.248T>C (p.Val83Ala)
11g.8090190T>GCA379563037TUBc.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
11g.8090190T=CA1950953549TUBc.212T= (p.Val71=)
c.377T= (p.Val126=)
c.230T= (p.Val77=)
c.338T= (p.Val113=)
c.248T= (p.Val83=)
11g.8090191G>ACA473009113TUBc.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
11g.8090191G>CCA473009114TUBc.213G>C (p.Val71=)
c.378G>C (p.Val126=)
c.231G>C (p.Val77=)
c.339G>C (p.Val113=)
c.249G>C (p.Val83=)
11g.8090191G>TCA473009115TUBc.213G>T (p.Val71=)
c.378G>T (p.Val126=)
c.231G>T (p.Val77=)
c.339G>T (p.Val113=)
c.249G>T (p.Val83=)
11g.8090192G>ACA379563043TUBc.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
11g.8090192G>CCA379563039TUBc.214G>C (p.Glu72Gln)
c.379G>C (p.Glu127Gln)
c.232G>C (p.Glu78Gln)
c.340G>C (p.Glu114Gln)
c.250G>C (p.Glu84Gln)
11g.8090192G=CA1950953552TUBc.214G= (p.Glu72=)
c.379G= (p.Glu127=)
c.232G= (p.Glu78=)
c.340G= (p.Glu114=)
c.250G= (p.Glu84=)
11g.8090192G>TCA379563041TUBc.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
11g.8090193A=CA1950953557TUBc.215A= (p.Glu72=)
c.380A= (p.Glu127=)
c.233A= (p.Glu78=)
c.341A= (p.Glu114=)
c.251A= (p.Glu84=)
11g.8090193A>CCA379563044TUBc.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
11g.8090193A>GCA379563046TUBc.215A>G (p.Glu72Gly)
c.380A>G (p.Glu127Gly)
c.233A>G (p.Glu78Gly)
c.341A>G (p.Glu114Gly)
c.251A>G (p.Glu84Gly)
11g.8090193A>TCA379563048TUBc.215A>T (p.Glu72Val)
c.380A>T (p.Glu127Val)
c.233A>T (p.Glu78Val)
c.341A>T (p.Glu114Val)
c.251A>T (p.Glu84Val)
11g.8090194G>ACA473009116TUBc.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
11g.8090194G>CCA379563049TUBc.216G>C (p.Glu72Asp)
c.381G>C (p.Glu127Asp)
c.234G>C (p.Glu78Asp)
c.342G>C (p.Glu114Asp)
c.252G>C (p.Glu84Asp)
11g.8090194G=CA1950953559TUBc.216G= (p.Glu72=)
c.381G= (p.Glu127=)
c.234G= (p.Glu78=)
c.342G= (p.Glu114=)
c.252G= (p.Glu84=)
11g.8090194G>TCA379563050TUBc.216G>T (p.Glu72Asp)
c.381G>T (p.Glu127Asp)
c.234G>T (p.Glu78Asp)
c.342G>T (p.Glu114Asp)
c.252G>T (p.Glu84Asp)
11g.8090195T>ACA379563052TUBc.217T>A (p.Ser73Thr)
c.382T>A (p.Ser128Thr)
c.235T>A (p.Ser79Thr)
c.343T>A (p.Ser115Thr)
c.253T>A (p.Ser85Thr)
11g.8090195T>CCA379563054TUBc.217T>C (p.Ser73Pro)
c.382T>C (p.Ser128Pro)
c.235T>C (p.Ser79Pro)
c.343T>C (p.Ser115Pro)
c.253T>C (p.Ser85Pro)
11g.8090195T>GCA379563055TUBc.217T>G (p.Ser73Ala)
c.382T>G (p.Ser128Ala)
c.235T>G (p.Ser79Ala)
c.343T>G (p.Ser115Ala)
c.253T>G (p.Ser85Ala)
11g.8090196C>ACA379563058TUBc.218C>A (p.Ser73Tyr)
c.383C>A (p.Ser128Tyr)
c.236C>A (p.Ser79Tyr)
c.344C>A (p.Ser115Tyr)
c.254C>A (p.Ser85Tyr)
11g.8090196C=CA1950953562TUBc.218C= (p.Ser73=)
c.383C= (p.Ser128=)
c.236C= (p.Ser79=)
c.344C= (p.Ser115=)
c.254C= (p.Ser85=)
11g.8090196C>GCA379563060TUBc.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
11g.8090196C>TCA5870996TUBc.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
11g.8090197C>ACA473009117TUBc.219C>A (p.Ser73=)
c.384C>A (p.Ser128=)
c.237C>A (p.Ser79=)
c.345C>A (p.Ser115=)
c.255C>A (p.Ser85=)
11g.8090197C=CA1950953567TUBc.219C= (p.Ser73=)
c.384C= (p.Ser128=)
c.237C= (p.Ser79=)
c.345C= (p.Ser115=)
c.255C= (p.Ser85=)
11g.8090197C>GCA5870997TUBc.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
11g.8090197C>TCA5870999TUBc.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
11g.8090197_8090202delinsCTACCTCA1950953569TUBc.219_224delinsCTACCT (p.Ser73=)
c.384_389delinsCTACCT (p.Ser128=)
c.237_242delinsCTACCT (p.Ser79=)
c.345_350delinsCTACCT (p.Ser115=)
c.255_260delinsCTACCT (p.Ser85=)
11g.8090198T>ACA379563065TUBc.220T>A (p.Tyr74Asn)
c.385T>A (p.Tyr129Asn)
c.238T>A (p.Tyr80Asn)
c.346T>A (p.Tyr116Asn)
c.256T>A (p.Tyr86Asn)
11g.8090198T>CCA379563067TUBc.220T>C (p.Tyr74His)
c.385T>C (p.Tyr129His)
c.238T>C (p.Tyr80His)
c.346T>C (p.Tyr116His)
c.256T>C (p.Tyr86His)
11g.8090198T>GCA379563069TUBc.220T>G (p.Tyr74Asp)
c.385T>G (p.Tyr129Asp)
c.238T>G (p.Tyr80Asp)
c.346T>G (p.Tyr116Asp)
c.256T>G (p.Tyr86Asp)
11g.8090198_8090202delCA5870998TUBc.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
11g.8090199A>CCA379563071TUBc.221A>C (p.Tyr74Ser)
c.386A>C (p.Tyr129Ser)
c.239A>C (p.Tyr80Ser)
c.347A>C (p.Tyr116Ser)
c.257A>C (p.Tyr86Ser)
11g.8090199A>GCA379563072TUBc.221A>G (p.Tyr74Cys)
c.386A>G (p.Tyr129Cys)
c.239A>G (p.Tyr80Cys)
c.347A>G (p.Tyr116Cys)
c.257A>G (p.Tyr86Cys)
11g.8090199A>TCA379563074TUBc.221A>T (p.Tyr74Phe)
c.386A>T (p.Tyr129Phe)
c.239A>T (p.Tyr80Phe)
c.347A>T (p.Tyr116Phe)
c.257A>T (p.Tyr86Phe)
11g.8090200C>ACA379563077TUBc.222C>A (p.Tyr74Ter)
c.387C>A (p.Tyr129Ter)
c.240C>A (p.Tyr80Ter)
c.348C>A (p.Tyr116Ter)
c.258C>A (p.Tyr86Ter)
11g.8090200C>GCA379563079TUBc.222C>G (p.Tyr74Ter)
c.387C>G (p.Tyr129Ter)
c.240C>G (p.Tyr80Ter)
c.348C>G (p.Tyr116Ter)
c.258C>G (p.Tyr86Ter)
11g.8090200C>TCA473009118TUBc.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
11g.8090201C>ACA379563082TUBc.223C>A (p.Leu75Ile)
c.388C>A (p.Leu130Ile)
c.241C>A (p.Leu81Ile)
c.349C>A (p.Leu117Ile)
c.259C>A (p.Leu87Ile)
11g.8090201C=CA1950953573TUBc.223C= (p.Leu75=)
c.388C= (p.Leu130=)
c.241C= (p.Leu81=)
c.349C= (p.Leu117=)
c.259C= (p.Leu87=)
11g.8090201C>GCA379563084TUBc.223C>G (p.Leu75Val)
c.388C>G (p.Leu130Val)
c.241C>G (p.Leu81Val)
c.349C>G (p.Leu117Val)
c.259C>G (p.Leu87Val)
11g.8090201C>TCA217415675TUBc.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
11g.8090202T>ACA379563087TUBc.224T>A (p.Leu75His)
c.389T>A (p.Leu130His)
c.242T>A (p.Leu81His)
c.350T>A (p.Leu117His)
c.260T>A (p.Leu87His)
11g.8090202T>CCA379563090TUBc.224T>C (p.Leu75Pro)
c.389T>C (p.Leu130Pro)
c.242T>C (p.Leu81Pro)
c.350T>C (p.Leu117Pro)
c.260T>C (p.Leu87Pro)
11g.8090202T>GCA379563091TUBc.224T>G (p.Leu75Arg)
c.389T>G (p.Leu130Arg)
c.242T>G (p.Leu81Arg)
c.350T>G (p.Leu117Arg)
c.260T>G (p.Leu87Arg)
11g.8090203C>ACA473009119TUBc.225C>A (p.Leu75=)
c.390C>A (p.Leu130=)
c.243C>A (p.Leu81=)
c.351C>A (p.Leu117=)
c.261C>A (p.Leu87=)
11g.8090203C=CA1950953576TUBc.225C= (p.Leu75=)
c.390C= (p.Leu130=)
c.243C= (p.Leu81=)
c.351C= (p.Leu117=)
c.261C= (p.Leu87=)
11g.8090203C>GCA473009120TUBc.225C>G (p.Leu75=)
c.390C>G (p.Leu130=)
c.243C>G (p.Leu81=)
c.351C>G (p.Leu117=)
c.261C>G (p.Leu87=)
11g.8090203C>TCA5871000TUBc.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
11g.8090204A>CCA379563096TUBc.226A>C (p.Ser76Arg)
c.391A>C (p.Ser131Arg)
c.244A>C (p.Ser82Arg)
c.352A>C (p.Ser118Arg)
c.262A>C (p.Ser88Arg)
11g.8090204A>GCA379563099TUBc.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
11g.8090204A>TCA379563097TUBc.226A>T (p.Ser76Cys)
c.391A>T (p.Ser131Cys)
c.244A>T (p.Ser82Cys)
c.352A>T (p.Ser118Cys)
c.262A>T (p.Ser88Cys)
11g.8090205G>ACA379563101TUBc.227G>A (p.Ser76Asn)
c.392G>A (p.Ser131Asn)
c.245G>A (p.Ser82Asn)
c.353G>A (p.Ser118Asn)
c.263G>A (p.Ser88Asn)
11g.8090205G>CCA379563103TUBc.227G>C (p.Ser76Thr)
c.392G>C (p.Ser131Thr)
c.245G>C (p.Ser82Thr)
c.353G>C (p.Ser118Thr)
c.263G>C (p.Ser88Thr)
11g.8090205G>TCA379563105TUBc.227G>T (p.Ser76Ile)
c.392G>T (p.Ser131Ile)
c.245G>T (p.Ser82Ile)
c.353G>T (p.Ser118Ile)
c.263G>T (p.Ser88Ile)
11g.8090206C>ACA379563107TUBc.228C>A (p.Ser76Arg)
c.393C>A (p.Ser131Arg)
c.246C>A (p.Ser82Arg)
c.354C>A (p.Ser118Arg)
c.264C>A (p.Ser88Arg)
11g.8090206C>GCA379563108TUBc.228C>G (p.Ser76Arg)
c.393C>G (p.Ser131Arg)
c.246C>G (p.Ser82Arg)
c.354C>G (p.Ser118Arg)
c.264C>G (p.Ser88Arg)
11g.8090206C>TCA473009121TUBc.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
11g.8090207A=CA1950953579TUBc.229A= (p.Ser77=)
c.394A= (p.Ser132=)
c.247A= (p.Ser83=)
c.355A= (p.Ser119=)
c.265A= (p.Ser89=)
11g.8090207A>CCA5871001TUBc.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
11g.8090207A>GCA379563111TUBc.229A>G (p.Ser77Gly)
c.394A>G (p.Ser132Gly)
c.247A>G (p.Ser83Gly)
c.355A>G (p.Ser119Gly)
c.265A>G (p.Ser89Gly)
11g.8090207A>TCA379563112TUBc.229A>T (p.Ser77Cys)
c.394A>T (p.Ser132Cys)
c.247A>T (p.Ser83Cys)
c.355A>T (p.Ser119Cys)
c.265A>T (p.Ser89Cys)
11g.8090208G>ACA379563115TUBc.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
11g.8090208G>CCA379563116TUBc.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
11g.8090208G=CA1950953582TUBc.230G= (p.Ser77=)
c.395G= (p.Ser132=)
c.248G= (p.Ser83=)
c.356G= (p.Ser119=)
c.266G= (p.Ser89=)
11g.8090208G>TCA5871002TUBc.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
11g.8090209C>ACA379563123TUBc.231C>A (p.Ser77Arg)
c.396C>A (p.Ser132Arg)
c.249C>A (p.Ser83Arg)
c.357C>A (p.Ser119Arg)
c.267C>A (p.Ser89Arg)
11g.8090209C>GCA379563121TUBc.231C>G (p.Ser77Arg)
c.396C>G (p.Ser132Arg)
c.249C>G (p.Ser83Arg)
c.357C>G (p.Ser119Arg)
c.267C>G (p.Ser89Arg)
11g.8090209C>TCA473009122TUBc.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
11g.8090210A=CA1950953584TUBc.232A= (p.Ser78=)
c.397A= (p.Ser133=)
c.250A= (p.Ser84=)
c.358A= (p.Ser120=)
c.268A= (p.Ser90=)
11g.8090210A>CCA379563125TUBc.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
11g.8090210A>GCA379563127TUBc.232A>G (p.Ser78Gly)
c.397A>G (p.Ser133Gly)
c.250A>G (p.Ser84Gly)
c.358A>G (p.Ser120Gly)
c.268A>G (p.Ser90Gly)
11g.8090210A>TCA379563129TUBc.232A>T (p.Ser78Cys)
c.397A>T (p.Ser133Cys)
c.250A>T (p.Ser84Cys)
c.358A>T (p.Ser120Cys)
c.268A>T (p.Ser90Cys)
11g.8090211G>ACA379563131TUBc.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
11g.8090211G>CCA379563133TUBc.233G>C (p.Ser78Thr)
c.398G>C (p.Ser133Thr)
c.251G>C (p.Ser84Thr)
c.359G>C (p.Ser120Thr)
c.269G>C (p.Ser90Thr)
11g.8090211G=CA1950953586TUBc.233G= (p.Ser78=)
c.398G= (p.Ser133=)
c.251G= (p.Ser84=)
c.359G= (p.Ser120=)
c.269G= (p.Ser90=)
11g.8090211G>TCA379563135TUBc.233G>T (p.Ser78Ile)
c.398G>T (p.Ser133Ile)
c.251G>T (p.Ser84Ile)
c.359G>T (p.Ser120Ile)
c.269G>T (p.Ser90Ile)
11g.8090212T>ACA379563137TUBc.234T>A (p.Ser78Arg)
c.399T>A (p.Ser133Arg)
c.252T>A (p.Ser84Arg)
c.360T>A (p.Ser120Arg)
c.270T>A (p.Ser90Arg)
11g.8090212T>CCA473009123TUBc.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
11g.8090212T>GCA379563139TUBc.234T>G (p.Ser78Arg)
c.399T>G (p.Ser133Arg)
c.252T>G (p.Ser84Arg)
c.360T>G (p.Ser120Arg)
c.270T>G (p.Ser90Arg)
11g.8090213G>ACA379563140TUBc.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
11g.8090213G>CCA379563141TUBc.235G>C (p.Gly79Arg)
c.400G>C (p.Gly134Arg)
c.253G>C (p.Gly85Arg)
c.361G>C (p.Gly121Arg)
c.271G>C (p.Gly91Arg)
11g.8090213G=CA1950953589TUBc.235G= (p.Gly79=)
c.400G= (p.Gly134=)
c.253G= (p.Gly85=)
c.361G= (p.Gly121=)
c.271G= (p.Gly91=)
11g.8090213G>TCA379563144TUBc.235G>T (p.Gly79Cys)
c.400G>T (p.Gly134Cys)
c.253G>T (p.Gly85Cys)
c.361G>T (p.Gly121Cys)
c.271G>T (p.Gly91Cys)
11g.8090214G>ACA379563145TUBc.236G>A (p.Gly79Asp)
c.401G>A (p.Gly134Asp)
c.254G>A (p.Gly85Asp)
c.362G>A (p.Gly121Asp)
c.272G>A (p.Gly91Asp)
11g.8090214G>CCA379563148TUBc.236G>C (p.Gly79Ala)
c.401G>C (p.Gly134Ala)
c.254G>C (p.Gly85Ala)
c.362G>C (p.Gly121Ala)
c.272G>C (p.Gly91Ala)
11g.8090214G>TCA379563151TUBc.236G>T (p.Gly79Val)
c.401G>T (p.Gly134Val)
c.254G>T (p.Gly85Val)
c.362G>T (p.Gly121Val)
c.272G>T (p.Gly91Val)
11g.8090215C>ACA473009124TUBc.237C>A (p.Gly79=)
c.402C>A (p.Gly134=)
c.255C>A (p.Gly85=)
c.363C>A (p.Gly121=)
c.273C>A (p.Gly91=)
11g.8090215C>GCA473009125TUBc.237C>G (p.Gly79=)
c.402C>G (p.Gly134=)
c.255C>G (p.Gly85=)
c.363C>G (p.Gly121=)
c.273C>G (p.Gly91=)
11g.8090215C>TCA473009126TUBc.237C>T (p.Gly79=)
c.402C>T (p.Gly134=)
c.255C>T (p.Gly85=)
c.363C>T (p.Gly121=)
c.273C>T (p.Gly91=)
11g.8090216A=CA1950953591TUBc.238A= (p.Ser80=)
c.403A= (p.Ser135=)
c.256A= (p.Ser86=)
c.364A= (p.Ser122=)
c.274A= (p.Ser92=)
11g.8090216A>CCA379563158TUBc.238A>C (p.Ser80Arg)
c.403A>C (p.Ser135Arg)
c.256A>C (p.Ser86Arg)
c.364A>C (p.Ser122Arg)
c.274A>C (p.Ser92Arg)
11g.8090216A>GCA379563156TUBc.238A>G (p.Ser80Gly)
c.403A>G (p.Ser135Gly)
c.256A>G (p.Ser86Gly)
c.364A>G (p.Ser122Gly)
c.274A>G (p.Ser92Gly)
11g.8090216A>TCA379563154TUBc.238A>T (p.Ser80Cys)
c.403A>T (p.Ser135Cys)
c.256A>T (p.Ser86Cys)
c.364A>T (p.Ser122Cys)
c.274A>T (p.Ser92Cys)
11g.8090217G>ACA379563160TUBc.239G>A (p.Ser80Asn)
c.404G>A (p.Ser135Asn)
c.257G>A (p.Ser86Asn)
c.365G>A (p.Ser122Asn)
c.275G>A (p.Ser92Asn)
11g.8090217G>CCA379563161TUBc.239G>C (p.Ser80Thr)
c.404G>C (p.Ser135Thr)
c.257G>C (p.Ser86Thr)
c.365G>C (p.Ser122Thr)
c.275G>C (p.Ser92Thr)
11g.8090217G>TCA379563164TUBc.239G>T (p.Ser80Ile)
c.404G>T (p.Ser135Ile)
c.257G>T (p.Ser86Ile)
c.365G>T (p.Ser122Ile)
c.275G>T (p.Ser92Ile)
11g.8090219_8090267dupCA934888266TUBc.241_253+36dup
c.406_418+36dup
c.259_271+36dup
c.367_379+36dup
c.277_289+36dup
 dbSNP gnomAD v3 gnomAD v4
11g.8090218C>ACA379563167TUBc.240C>A (p.Ser80Arg)
c.405C>A (p.Ser135Arg)
c.258C>A (p.Ser86Arg)
c.366C>A (p.Ser122Arg)
c.276C>A (p.Ser92Arg)
11g.8090218C=CA1950953596TUBc.240C= (p.Ser80=)
c.405C= (p.Ser135=)
c.258C= (p.Ser86=)
c.366C= (p.Ser122=)
c.276C= (p.Ser92=)
11g.8090218C>GCA379563168TUBc.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
11g.8090218C>TCA473009127TUBc.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
11g.8090219A>CCA379563170TUBc.241A>C (p.Thr81Pro)
c.406A>C (p.Thr136Pro)
c.259A>C (p.Thr87Pro)
c.367A>C (p.Thr123Pro)
c.277A>C (p.Thr93Pro)
11g.8090219A>GCA379563172TUBc.241A>G (p.Thr81Ala)
c.406A>G (p.Thr136Ala)
c.259A>G (p.Thr87Ala)
c.367A>G (p.Thr123Ala)
c.277A>G (p.Thr93Ala)
11g.8090219A>TCA379563175TUBc.241A>T (p.Thr81Ser)
c.406A>T (p.Thr136Ser)
c.259A>T (p.Thr87Ser)
c.367A>T (p.Thr123Ser)
c.277A>T (p.Thr93Ser)
11g.8090220C>ACA379563176TUBc.242C>A (p.Thr81Asn)
c.407C>A (p.Thr136Asn)
c.260C>A (p.Thr87Asn)
c.368C>A (p.Thr123Asn)
c.278C>A (p.Thr93Asn)
11g.8090220C=CA1950953598TUBc.242C= (p.Thr81=)
c.407C= (p.Thr136=)
c.260C= (p.Thr87=)
c.368C= (p.Thr123=)
c.278C= (p.Thr93=)
11g.8090220C>GCA5871003TUBc.242C>G (p.Thr81Ser)
c.407C>G (p.Thr136Ser)
c.260C>G (p.Thr87Ser)
c.368C>G (p.Thr123Ser)
c.278C>G (p.Thr93Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090220C>TCA379563178TUBc.242C>T (p.Thr81Ile)
c.407C>T (p.Thr136Ile)
c.260C>T (p.Thr87Ile)
c.368C>T (p.Thr123Ile)
c.278C>T (p.Thr93Ile)
 gnomAD v4
11g.8090221C>ACA473009128TUBc.243C>A (p.Thr81=)
c.408C>A (p.Thr136=)
c.261C>A (p.Thr87=)
c.369C>A (p.Thr123=)
c.279C>A (p.Thr93=)
11g.8090221C>GCA473009129TUBc.243C>G (p.Thr81=)
c.408C>G (p.Thr136=)
c.261C>G (p.Thr87=)
c.369C>G (p.Thr123=)
c.279C>G (p.Thr93=)
11g.8090221C>TCA473009130TUBc.243C>T (p.Thr81=)
c.408C>T (p.Thr136=)
c.261C>T (p.Thr87=)
c.369C>T (p.Thr123=)
c.279C>T (p.Thr93=)
11g.8090222A>CCA379563180TUBc.244A>C (p.Ser82Arg)
c.409A>C (p.Ser137Arg)
c.262A>C (p.Ser88Arg)
c.370A>C (p.Ser124Arg)
c.280A>C (p.Ser94Arg)
11g.8090222A>GCA379563181TUBc.244A>G (p.Ser82Gly)
c.409A>G (p.Ser137Gly)
c.262A>G (p.Ser88Gly)
c.370A>G (p.Ser124Gly)
c.280A>G (p.Ser94Gly)
11g.8090222A>TCA379563182TUBc.244A>T (p.Ser82Cys)
c.409A>T (p.Ser137Cys)
c.262A>T (p.Ser88Cys)
c.370A>T (p.Ser124Cys)
c.280A>T (p.Ser94Cys)
11g.8090223G>ACA379563185TUBc.245G>A (p.Ser82Asn)
c.410G>A (p.Ser137Asn)
c.263G>A (p.Ser88Asn)
c.371G>A (p.Ser124Asn)
c.281G>A (p.Ser94Asn)
11g.8090223G>CCA379563190TUBc.245G>C (p.Ser82Thr)
c.410G>C (p.Ser137Thr)
c.263G>C (p.Ser88Thr)
c.371G>C (p.Ser124Thr)
c.281G>C (p.Ser94Thr)
11g.8090223G>TCA379563183TUBc.245G>T (p.Ser82Ile)
c.410G>T (p.Ser137Ile)
c.263G>T (p.Ser88Ile)
c.371G>T (p.Ser124Ile)
c.281G>T (p.Ser94Ile)
11g.8090224C>ACA379563192TUBc.246C>A (p.Ser82Arg)
c.411C>A (p.Ser137Arg)
c.264C>A (p.Ser88Arg)
c.372C>A (p.Ser124Arg)
c.282C>A (p.Ser94Arg)
11g.8090224C>GCA379563194TUBc.246C>G (p.Ser82Arg)
c.411C>G (p.Ser137Arg)
c.264C>G (p.Ser88Arg)
c.372C>G (p.Ser124Arg)
c.282C>G (p.Ser94Arg)
11g.8090224C>TCA473009131TUBc.246C>T (p.Ser82=)
c.411C>T (p.Ser137=)
c.264C>T (p.Ser88=)
c.372C>T (p.Ser124=)
c.282C>T (p.Ser94=)
11g.8090225_8090227delCA2612330587TUBc.247_249del (p.Tyr83del)
c.412_414del (p.Tyr138del)
c.265_267del (p.Tyr89del)
c.373_375del (p.Tyr125del)
c.283_285del (p.Tyr95del)
 gnomAD v4
11g.8090225T>ACA379563196TUBc.247T>A (p.Tyr83Asn)
c.412T>A (p.Tyr138Asn)
c.265T>A (p.Tyr89Asn)
c.373T>A (p.Tyr125Asn)
c.283T>A (p.Tyr95Asn)
11g.8090225T>CCA379563198TUBc.247T>C (p.Tyr83His)
c.412T>C (p.Tyr138His)
c.265T>C (p.Tyr89His)
c.373T>C (p.Tyr125His)
c.283T>C (p.Tyr95His)
 gnomAD v4
11g.8090225T>GCA379563200TUBc.247T>G (p.Tyr83Asp)
c.412T>G (p.Tyr138Asp)
c.265T>G (p.Tyr89Asp)
c.373T>G (p.Tyr125Asp)
c.283T>G (p.Tyr95Asp)
11g.8090226A=CA1950953601TUBc.248A= (p.Tyr83=)
c.413A= (p.Tyr138=)
c.266A= (p.Tyr89=)
c.374A= (p.Tyr125=)
c.284A= (p.Tyr95=)
11g.8090226A>CCA379563201TUBc.248A>C (p.Tyr83Ser)
c.413A>C (p.Tyr138Ser)
c.266A>C (p.Tyr89Ser)
c.374A>C (p.Tyr125Ser)
c.284A>C (p.Tyr95Ser)
11g.8090226A>GCA379563203TUBc.248A>G (p.Tyr83Cys)
c.413A>G (p.Tyr138Cys)
c.266A>G (p.Tyr89Cys)
c.374A>G (p.Tyr125Cys)
c.284A>G (p.Tyr95Cys)
 dbSNP
11g.8090226A>TCA379563204TUBc.248A>T (p.Tyr83Phe)
c.413A>T (p.Tyr138Phe)
c.266A>T (p.Tyr89Phe)
c.374A>T (p.Tyr125Phe)
c.284A>T (p.Tyr95Phe)

Number of alleles fetched