UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.8090037C>A | CA217415432 | TUB | c.91-32C>A (n.91-32C>A) c.256-32C>A (n.256-32C>A) c.109-32C>A (n.109-32C>A) c.217-32C>A (n.217-32C>A) c.127-32C>A (n.127-32C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090037C= | CA1950953242 | TUB | c.91-32C= (n.91-32C=) c.256-32C= (n.256-32C=) c.109-32C= (n.109-32C=) c.217-32C= (n.217-32C=) c.127-32C= (n.127-32C=) | |
| 11 | g.8090037C>T | CA597441540 | TUB | c.91-32C>T (n.91-32C>T) c.256-32C>T (n.256-32C>T) c.109-32C>T (n.109-32C>T) c.217-32C>T (n.217-32C>T) c.127-32C>T (n.127-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090038A= | CA1950953244 | TUB | c.91-31A= (n.91-31A=) c.256-31A= (n.256-31A=) c.109-31A= (n.109-31A=) c.217-31A= (n.217-31A=) c.127-31A= (n.127-31A=) | |
| 11 | g.8090038A>G | CA2790351885 | TUB | c.91-31A>G (n.91-31A>G) c.256-31A>G (n.256-31A>G) c.109-31A>G (n.109-31A>G) c.217-31A>G (n.217-31A>G) c.127-31A>G (n.127-31A>G) | |
| 11 | g.8090040_8090041dup | CA1950953245 | TUB | c.91-29_91-28dup (n.91-29_91-28dup) c.256-29_256-28dup (n.256-29_256-28dup) c.109-29_109-28dup (n.109-29_109-28dup) c.217-29_217-28dup (n.217-29_217-28dup) c.127-29_127-28dup (n.127-29_127-28dup) | dbSNP |
| 11 | g.8090040T>G | CA2723241269 | TUB | c.91-29T>G (n.91-29T>G) c.256-29T>G (n.256-29T>G) c.109-29T>G (n.109-29T>G) c.217-29T>G (n.217-29T>G) c.127-29T>G (n.127-29T>G) | dbSNP |
| 11 | g.8090040_8090041delinsTG | CA1950953246 | TUB | c.91-29_91-28delinsTG (n.91-29_91-28delinsTG) c.256-29_256-28delinsTG (n.256-29_256-28delinsTG) c.109-29_109-28delinsTG (n.109-29_109-28delinsTG) c.217-29_217-28delinsTG (n.217-29_217-28delinsTG) c.127-29_127-28delinsTG (n.127-29_127-28delinsTG) | |
| 11 | g.8090041G>A | CA2612330571 | TUB | c.91-28G>A (n.91-28G>A) c.256-28G>A (n.256-28G>A) c.109-28G>A (n.109-28G>A) c.217-28G>A (n.217-28G>A) c.127-28G>A (n.127-28G>A) | gnomAD v4 |
| 11 | g.8090043del | CA597441541 | TUB | c.91-26del (n.91-26del) c.256-26del (n.256-26del) c.109-26del (n.109-26del) c.217-26del (n.217-26del) c.127-26del (n.127-26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090042G>A | CA5870954 | TUB | c.91-27G>A (n.91-27G>A) c.256-27G>A (n.256-27G>A) c.109-27G>A (n.109-27G>A) c.217-27G>A (n.217-27G>A) c.127-27G>A (n.127-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090042G= | CA1950953248 | TUB | c.91-27G= (n.91-27G=) c.256-27G= (n.256-27G=) c.109-27G= (n.109-27G=) c.217-27G= (n.217-27G=) c.127-27G= (n.127-27G=) | |
| 11 | g.8090042G>T | CA2563911982 | TUB | c.91-27G>T (n.91-27G>T) c.256-27G>T (n.256-27G>T) c.109-27G>T (n.109-27G>T) c.217-27G>T (n.217-27G>T) c.127-27G>T (n.127-27G>T) | |
| 11 | g.8090043G>A | CA2612330572 | TUB | c.91-26G>A (n.91-26G>A) c.256-26G>A (n.256-26G>A) c.109-26G>A (n.109-26G>A) c.217-26G>A (n.217-26G>A) c.127-26G>A (n.127-26G>A) | gnomAD v4 |
| 11 | g.8090043G>C | CA1950953252 | TUB | c.91-26G>C (n.91-26G>C) c.256-26G>C (n.256-26G>C) c.109-26G>C (n.109-26G>C) c.217-26G>C (n.217-26G>C) c.127-26G>C (n.127-26G>C) | dbSNP |
| 11 | g.8090043G= | CA1950953251 | TUB | c.91-26G= (n.91-26G=) c.256-26G= (n.256-26G=) c.109-26G= (n.109-26G=) c.217-26G= (n.217-26G=) c.127-26G= (n.127-26G=) | |
| 11 | g.8090045C>T | CA2612330573 | TUB | c.91-24C>T (n.91-24C>T) c.256-24C>T (n.256-24C>T) c.109-24C>T (n.109-24C>T) c.217-24C>T (n.217-24C>T) c.127-24C>T (n.127-24C>T) | gnomAD v4 |
| 11 | g.8090046A>G | CA2612330574 | TUB | c.91-23A>G (n.91-23A>G) c.256-23A>G (n.256-23A>G) c.109-23A>G (n.109-23A>G) c.217-23A>G (n.217-23A>G) c.127-23A>G (n.127-23A>G) | gnomAD v4 |
| 11 | g.8090047G>A | CA217415440 | TUB | c.91-22G>A (n.91-22G>A) c.256-22G>A (n.256-22G>A) c.109-22G>A (n.109-22G>A) c.217-22G>A (n.217-22G>A) c.127-22G>A (n.127-22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090047G>C | CA2612330576 | TUB | c.91-22G>C (n.91-22G>C) c.256-22G>C (n.256-22G>C) c.109-22G>C (n.109-22G>C) c.217-22G>C (n.217-22G>C) c.127-22G>C (n.127-22G>C) | gnomAD v4 |
| 11 | g.8090047G= | CA1950953254 | TUB | c.91-22G= (n.91-22G=) c.256-22G= (n.256-22G=) c.109-22G= (n.109-22G=) c.217-22G= (n.217-22G=) c.127-22G= (n.127-22G=) | |
| 11 | g.8090047G>T | CA2612330575 | TUB | c.91-22G>T (n.91-22G>T) c.256-22G>T (n.256-22G>T) c.109-22G>T (n.109-22G>T) c.217-22G>T (n.217-22G>T) c.127-22G>T (n.127-22G>T) | gnomAD v4 |
| 11 | g.8090048C>A | CA2612330577 | TUB | c.91-21C>A (n.91-21C>A) c.256-21C>A (n.256-21C>A) c.109-21C>A (n.109-21C>A) c.217-21C>A (n.217-21C>A) c.127-21C>A (n.127-21C>A) | gnomAD v4 |
| 11 | g.8090049C>A | CA2612330578 | TUB | c.91-20C>A (n.91-20C>A) c.256-20C>A (n.256-20C>A) c.109-20C>A (n.109-20C>A) c.217-20C>A (n.217-20C>A) c.127-20C>A (n.127-20C>A) | gnomAD v4 |
| 11 | g.8090051A>G | CA2790351887 | TUB | c.91-18A>G (n.91-18A>G) c.256-18A>G (n.256-18A>G) c.109-18A>G (n.109-18A>G) c.217-18A>G (n.217-18A>G) c.127-18A>G (n.127-18A>G) | |
| 11 | g.8090051A>T | CA2612330579 | TUB | c.91-18A>T (n.91-18A>T) c.256-18A>T (n.256-18A>T) c.109-18A>T (n.109-18A>T) c.217-18A>T (n.217-18A>T) c.127-18A>T (n.127-18A>T) | gnomAD v4 |
| 11 | g.8090052C>A | CA5870956 | TUB | c.91-17C>A (n.91-17C>A) c.256-17C>A (n.256-17C>A) c.109-17C>A (n.109-17C>A) c.217-17C>A (n.217-17C>A) c.127-17C>A (n.127-17C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090052C= | CA1950953256 | TUB | c.91-17C= (n.91-17C=) c.256-17C= (n.256-17C=) c.109-17C= (n.109-17C=) c.217-17C= (n.217-17C=) c.127-17C= (n.127-17C=) | |
| 11 | g.8090052_8090054delinsCCT | CA1950953257 | TUB | c.91-17_91-15delinsCCT (n.91-17_91-15delinsCCT) c.256-17_256-15delinsCCT (n.256-17_256-15delinsCCT) c.109-17_109-15delinsCCT (n.109-17_109-15delinsCCT) c.217-17_217-15delinsCCT (n.217-17_217-15delinsCCT) c.127-17_127-15delinsCCT (n.127-17_127-15delinsCCT) | |
| 11 | g.8090053C>G | CA2558487545 | TUB | c.91-16C>G (n.91-16C>G) c.256-16C>G (n.256-16C>G) c.109-16C>G (n.109-16C>G) c.217-16C>G (n.217-16C>G) c.127-16C>G (n.127-16C>G) | gnomAD v4 |
| 11 | g.8090053C>T | CA2612330580 | TUB | c.91-16C>T (n.91-16C>T) c.256-16C>T (n.256-16C>T) c.109-16C>T (n.109-16C>T) c.217-16C>T (n.217-16C>T) c.127-16C>T (n.127-16C>T) | gnomAD v4 |
| 11 | g.8090055_8090056del | CA5870955 | TUB | c.91-14_91-13del (n.91-14_91-13del) c.256-14_256-13del (n.256-14_256-13del) c.109-14_109-13del (n.109-14_109-13del) c.217-14_217-13del (n.217-14_217-13del) c.127-14_127-13del (n.127-14_127-13del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090055C>T | CA2573147217 | TUB | c.91-14C>T (n.91-14C>T) c.256-14C>T (n.256-14C>T) c.109-14C>T (n.109-14C>T) c.217-14C>T (n.217-14C>T) c.127-14C>T (n.127-14C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.8090055_8090057delinsCTG | CA1950953261 | TUB | c.91-14_91-12delinsCTG (n.91-14_91-12delinsCTG) c.256-14_256-12delinsCTG (n.256-14_256-12delinsCTG) c.109-14_109-12delinsCTG (n.109-14_109-12delinsCTG) c.217-14_217-12delinsCTG (n.217-14_217-12delinsCTG) c.127-14_127-12delinsCTG (n.127-14_127-12delinsCTG) | |
| 11 | g.8090056T>C | CA2612330581 | TUB | c.91-13T>C (n.91-13T>C) c.256-13T>C (n.256-13T>C) c.109-13T>C (n.109-13T>C) c.217-13T>C (n.217-13T>C) c.127-13T>C (n.127-13T>C) | gnomAD v4 |
| 11 | g.8090058_8090059del | CA1950953262 | TUB | c.91-11_91-10del (n.91-11_91-10del) c.256-11_256-10del (n.256-11_256-10del) c.109-11_109-10del (n.109-11_109-10del) c.217-11_217-10del (n.217-11_217-10del) c.127-11_127-10del (n.127-11_127-10del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.8090060C= | CA1950953263 | TUB | c.91-9C= (n.91-9C=) c.256-9C= (n.256-9C=) c.109-9C= (n.109-9C=) c.217-9C= (n.217-9C=) c.127-9C= (n.127-9C=) | |
| 11 | g.8090060C>T | CA680747253 | TUB | c.91-9C>T (n.91-9C>T) c.256-9C>T (n.256-9C>T) c.109-9C>T (n.109-9C>T) c.217-9C>T (n.217-9C>T) c.127-9C>T (n.127-9C>T) | dbSNP |
| 11 | g.8090062T>C | CA5870957 | TUB | c.91-7T>C (n.91-7T>C) c.256-7T>C (n.256-7T>C) c.109-7T>C (n.109-7T>C) c.217-7T>C (n.217-7T>C) c.127-7T>C (n.127-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090062T= | CA1950953265 | TUB | c.91-7T= (n.91-7T=) c.256-7T= (n.256-7T=) c.109-7T= (n.109-7T=) c.217-7T= (n.217-7T=) c.127-7T= (n.127-7T=) | |
| 11 | g.8090065A= | CA1950953268 | TUB | c.91-4A= (n.91-4A=) c.256-4A= (n.256-4A=) c.109-4A= (n.109-4A=) c.217-4A= (n.217-4A=) c.127-4A= (n.127-4A=) | |
| 11 | g.8090065A>G | CA597441542 | TUB | c.91-4A>G (n.91-4A>G) c.256-4A>G (n.256-4A>G) c.109-4A>G (n.109-4A>G) c.217-4A>G (n.217-4A>G) c.127-4A>G (n.127-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090065A>T | CA5870958 | TUB | c.91-4A>T (n.91-4A>T) c.256-4A>T (n.256-4A>T) c.109-4A>T (n.109-4A>T) c.217-4A>T (n.217-4A>T) c.127-4A>T (n.127-4A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090066T>A | CA2574745790 | TUB | c.91-3T>A (n.91-3T>A) c.256-3T>A (n.256-3T>A) c.109-3T>A (n.109-3T>A) c.217-3T>A (n.217-3T>A) c.127-3T>A (n.127-3T>A) | |
| 11 | g.8090066T>C | CA1950953271 | TUB | c.91-3T>C (n.91-3T>C) c.256-3T>C (n.256-3T>C) c.109-3T>C (n.109-3T>C) c.217-3T>C (n.217-3T>C) c.127-3T>C (n.127-3T>C) | dbSNP gnomAD v4 |
| 11 | g.8090066T= | CA1950953270 | TUB | c.91-3T= (n.91-3T=) c.256-3T= (n.256-3T=) c.109-3T= (n.109-3T=) c.217-3T= (n.217-3T=) c.127-3T= (n.127-3T=) | |
| 11 | g.8090067A>C | CA379562522 | TUB | c.91-2A>C (n.91-2A>C) c.256-2A>C (n.256-2A>C) c.109-2A>C (n.109-2A>C) c.217-2A>C (n.217-2A>C) c.127-2A>C (n.127-2A>C) | |
| 11 | g.8090067A>G | CA379562524 | TUB | c.91-2A>G (n.91-2A>G) c.256-2A>G (n.256-2A>G) c.109-2A>G (n.109-2A>G) c.217-2A>G (n.217-2A>G) c.127-2A>G (n.127-2A>G) | |
| 11 | g.8090067A>T | CA379562527 | TUB | c.91-2A>T (n.91-2A>T) c.256-2A>T (n.256-2A>T) c.109-2A>T (n.109-2A>T) c.217-2A>T (n.217-2A>T) c.127-2A>T (n.127-2A>T) | gnomAD v4 |
| 11 | g.8090068G>A | CA379562529 | TUB | c.91-1G>A (n.91-1G>A) c.256-1G>A (n.256-1G>A) c.109-1G>A (n.109-1G>A) c.217-1G>A (n.217-1G>A) c.127-1G>A (n.127-1G>A) | |
| 11 | g.8090068G>C | CA379562531 | TUB | c.91-1G>C (n.91-1G>C) c.256-1G>C (n.256-1G>C) c.109-1G>C (n.109-1G>C) c.217-1G>C (n.217-1G>C) c.127-1G>C (n.127-1G>C) | |
| 11 | g.8090068G>T | CA379562534 | TUB | c.91-1G>T (n.91-1G>T) c.256-1G>T (n.256-1G>T) c.109-1G>T (n.109-1G>T) c.217-1G>T (n.217-1G>T) c.127-1G>T (n.127-1G>T) | |
| 11 | g.8090069C>A | CA473009029 | TUB | c.91C>A (p.Arg31=) c.256C>A (p.Arg86=) c.109C>A (p.Arg37=) c.217C>A (p.Arg73=) c.127C>A (p.Arg43=) | gnomAD v4 |
| 11 | g.8090069C= | CA1950953273 | TUB | c.91C= (p.Arg31=) c.256C= (p.Arg86=) c.109C= (p.Arg37=) c.217C= (p.Arg73=) c.127C= (p.Arg43=) | |
| 11 | g.8090069C>G | CA379562536 | TUB | c.91C>G (p.Arg31Gly) c.256C>G (p.Arg86Gly) c.109C>G (p.Arg37Gly) c.217C>G (p.Arg73Gly) c.127C>G (p.Arg43Gly) | |
| 11 | g.8090069C>T | CA379562537 | TUB | c.91C>T (p.Arg31Trp) c.256C>T (p.Arg86Trp) c.109C>T (p.Arg37Trp) c.217C>T (p.Arg73Trp) c.127C>T (p.Arg43Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090070G>A | CA5870959 | TUB | c.92G>A (p.Arg31Gln) c.257G>A (p.Arg86Gln) c.110G>A (p.Arg37Gln) c.218G>A (p.Arg73Gln) c.128G>A (p.Arg43Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090070G>C | CA379562540 | TUB | c.92G>C (p.Arg31Pro) c.257G>C (p.Arg86Pro) c.110G>C (p.Arg37Pro) c.218G>C (p.Arg73Pro) c.128G>C (p.Arg43Pro) | |
| 11 | g.8090070G= | CA1950953278 | TUB | c.92G= (p.Arg31=) c.257G= (p.Arg86=) c.110G= (p.Arg37=) c.218G= (p.Arg73=) c.128G= (p.Arg43=) | |
| 11 | g.8090070G>T | CA379562539 | TUB | c.92G>T (p.Arg31Leu) c.257G>T (p.Arg86Leu) c.110G>T (p.Arg37Leu) c.218G>T (p.Arg73Leu) c.128G>T (p.Arg43Leu) | |
| 11 | g.8090071G>A | CA473009030 | TUB | c.93G>A (p.Arg31=) c.258G>A (p.Arg86=) c.111G>A (p.Arg37=) c.219G>A (p.Arg73=) c.129G>A (p.Arg43=) | |
| 11 | g.8090071G>C | CA473009031 | TUB | c.93G>C (p.Arg31=) c.258G>C (p.Arg86=) c.111G>C (p.Arg37=) c.219G>C (p.Arg73=) c.129G>C (p.Arg43=) | |
| 11 | g.8090071G>T | CA473009032 | TUB | c.93G>T (p.Arg31=) c.258G>T (p.Arg86=) c.111G>T (p.Arg37=) c.219G>T (p.Arg73=) c.129G>T (p.Arg43=) | |
| 11 | g.8090072G>A | CA379562542 | TUB | c.94G>A (p.Ala32Thr) c.259G>A (p.Ala87Thr) c.112G>A (p.Ala38Thr) c.220G>A (p.Ala74Thr) c.130G>A (p.Ala44Thr) | dbSNP gnomAD v4 |
| 11 | g.8090072G>C | CA379562544 | TUB | c.94G>C (p.Ala32Pro) c.259G>C (p.Ala87Pro) c.112G>C (p.Ala38Pro) c.220G>C (p.Ala74Pro) c.130G>C (p.Ala44Pro) | |
| 11 | g.8090072G= | CA1950953280 | TUB | c.94G= (p.Ala32=) c.259G= (p.Ala87=) c.112G= (p.Ala38=) c.220G= (p.Ala74=) c.130G= (p.Ala44=) | |
| 11 | g.8090072G>T | CA379562546 | TUB | c.94G>T (p.Ala32Ser) c.259G>T (p.Ala87Ser) c.112G>T (p.Ala38Ser) c.220G>T (p.Ala74Ser) c.130G>T (p.Ala44Ser) | dbSNP gnomAD v2 |
| 11 | g.8090073C>A | CA379562548 | TUB | c.95C>A (p.Ala32Asp) c.260C>A (p.Ala87Asp) c.113C>A (p.Ala38Asp) c.221C>A (p.Ala74Asp) c.131C>A (p.Ala44Asp) | dbSNP gnomAD v4 |
| 11 | g.8090073C= | CA1950953282 | TUB | c.95C= (p.Ala32=) c.260C= (p.Ala87=) c.113C= (p.Ala38=) c.221C= (p.Ala74=) c.131C= (p.Ala44=) | |
| 11 | g.8090073C>G | CA379562550 | TUB | c.95C>G (p.Ala32Gly) c.260C>G (p.Ala87Gly) c.113C>G (p.Ala38Gly) c.221C>G (p.Ala74Gly) c.131C>G (p.Ala44Gly) | |
| 11 | g.8090073C>T | CA379562554 | TUB | c.95C>T (p.Ala32Val) c.260C>T (p.Ala87Val) c.113C>T (p.Ala38Val) c.221C>T (p.Ala74Val) c.131C>T (p.Ala44Val) | gnomAD v4 |
| 11 | g.8090074C>A | CA473009035 | TUB | c.96C>A (p.Ala32=) c.261C>A (p.Ala87=) c.114C>A (p.Ala38=) c.222C>A (p.Ala74=) c.132C>A (p.Ala44=) | gnomAD v4 |
| 11 | g.8090074C>G | CA473009034 | TUB | c.96C>G (p.Ala32=) c.261C>G (p.Ala87=) c.114C>G (p.Ala38=) c.222C>G (p.Ala74=) c.132C>G (p.Ala44=) | |
| 11 | g.8090074C>T | CA473009033 | TUB | c.96C>T (p.Ala32=) c.261C>T (p.Ala87=) c.114C>T (p.Ala38=) c.222C>T (p.Ala74=) c.132C>T (p.Ala44=) | |
| 11 | g.8090075C>A | CA379562555 | TUB | c.97C>A (p.Leu33Met) c.262C>A (p.Leu88Met) c.115C>A (p.Leu39Met) c.223C>A (p.Leu75Met) c.133C>A (p.Leu45Met) | gnomAD v4 |
| 11 | g.8090075C>G | CA379562556 | TUB | c.97C>G (p.Leu33Val) c.262C>G (p.Leu88Val) c.115C>G (p.Leu39Val) c.223C>G (p.Leu75Val) c.133C>G (p.Leu45Val) | |
| 11 | g.8090075C>T | CA473009036 | TUB | c.97C>T (p.Leu33=) c.262C>T (p.Leu88=) c.115C>T (p.Leu39=) c.223C>T (p.Leu75=) c.133C>T (p.Leu45=) | |
| 11 | g.8090076T>A | CA379562557 | TUB | c.98T>A (p.Leu33Gln) c.263T>A (p.Leu88Gln) c.116T>A (p.Leu39Gln) c.224T>A (p.Leu75Gln) c.134T>A (p.Leu45Gln) | |
| 11 | g.8090076T>C | CA379562558 | TUB | c.98T>C (p.Leu33Pro) c.263T>C (p.Leu88Pro) c.116T>C (p.Leu39Pro) c.224T>C (p.Leu75Pro) c.134T>C (p.Leu45Pro) | |
| 11 | g.8090076T>G | CA379562560 | TUB | c.98T>G (p.Leu33Arg) c.263T>G (p.Leu88Arg) c.116T>G (p.Leu39Arg) c.224T>G (p.Leu75Arg) c.134T>G (p.Leu45Arg) | |
| 11 | g.8090077G>A | CA473009037 | TUB | c.99G>A (p.Leu33=) c.264G>A (p.Leu88=) c.117G>A (p.Leu39=) c.225G>A (p.Leu75=) c.135G>A (p.Leu45=) | |
| 11 | g.8090077G>C | CA473009038 | TUB | c.99G>C (p.Leu33=) c.264G>C (p.Leu88=) c.117G>C (p.Leu39=) c.225G>C (p.Leu75=) c.135G>C (p.Leu45=) | |
| 11 | g.8090077G>T | CA473009039 | TUB | c.99G>T (p.Leu33=) c.264G>T (p.Leu88=) c.117G>T (p.Leu39=) c.225G>T (p.Leu75=) c.135G>T (p.Leu45=) | |
| 11 | g.8090078C>A | CA379562561 | TUB | c.100C>A (p.Leu34Met) c.265C>A (p.Leu89Met) c.118C>A (p.Leu40Met) c.226C>A (p.Leu76Met) c.136C>A (p.Leu46Met) | |
| 11 | g.8090078C>G | CA379562562 | TUB | c.100C>G (p.Leu34Val) c.265C>G (p.Leu89Val) c.118C>G (p.Leu40Val) c.226C>G (p.Leu76Val) c.136C>G (p.Leu46Val) | |
| 11 | g.8090078C>T | CA473009040 | TUB | c.100C>T (p.Leu34=) c.265C>T (p.Leu89=) c.118C>T (p.Leu40=) c.226C>T (p.Leu76=) c.136C>T (p.Leu46=) | |
| 11 | g.8090079T>A | CA379562566 | TUB | c.101T>A (p.Leu34Gln) c.266T>A (p.Leu89Gln) c.119T>A (p.Leu40Gln) c.227T>A (p.Leu76Gln) c.137T>A (p.Leu46Gln) | |
| 11 | g.8090079T>C | CA379562569 | TUB | c.101T>C (p.Leu34Pro) c.266T>C (p.Leu89Pro) c.119T>C (p.Leu40Pro) c.227T>C (p.Leu76Pro) c.137T>C (p.Leu46Pro) | |
| 11 | g.8090079T>G | CA379562564 | TUB | c.101T>G (p.Leu34Arg) c.266T>G (p.Leu89Arg) c.119T>G (p.Leu40Arg) c.227T>G (p.Leu76Arg) c.137T>G (p.Leu46Arg) | |
| 11 | g.8090080G>A | CA473009041 | TUB | c.102G>A (p.Leu34=) c.267G>A (p.Leu89=) c.120G>A (p.Leu40=) c.228G>A (p.Leu76=) c.138G>A (p.Leu46=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.8090080G>C | CA473009042 | TUB | c.102G>C (p.Leu34=) c.267G>C (p.Leu89=) c.120G>C (p.Leu40=) c.228G>C (p.Leu76=) c.138G>C (p.Leu46=) | |
| 11 | g.8090080G= | CA1950953285 | TUB | c.102G= (p.Leu34=) c.267G= (p.Leu89=) c.120G= (p.Leu40=) c.228G= (p.Leu76=) c.138G= (p.Leu46=) | |
| 11 | g.8090080G>T | CA473009043 | TUB | c.102G>T (p.Leu34=) c.267G>T (p.Leu89=) c.120G>T (p.Leu40=) c.228G>T (p.Leu76=) c.138G>T (p.Leu46=) | |
| 11 | g.8090081_8090086dup | CA2612330582 | TUB | c.103_108dup (p.Gln36_Lys37insGluGln) c.268_273dup (p.Gln91_Lys92insGluGln) c.121_126dup (p.Gln42_Lys43insGluGln) c.229_234dup (p.Gln78_Lys79insGluGln) c.139_144dup (p.Gln48_Lys49insGluGln) | gnomAD v4 |
| 11 | g.8090081_8090086del | CA2612330583 | TUB | c.103_108del (p.Glu35_Gln36del) c.268_273del (p.Glu90_Gln91del) c.121_126del (p.Glu41_Gln42del) c.229_234del (p.Glu77_Gln78del) c.139_144del (p.Glu47_Gln48del) | gnomAD v4 |
| 11 | g.8090081G>A | CA379562575 | TUB | c.103G>A (p.Glu35Lys) c.268G>A (p.Glu90Lys) c.121G>A (p.Glu41Lys) c.229G>A (p.Glu77Lys) c.139G>A (p.Glu47Lys) | |
| 11 | g.8090081G>C | CA379562571 | TUB | c.103G>C (p.Glu35Gln) c.268G>C (p.Glu90Gln) c.121G>C (p.Glu41Gln) c.229G>C (p.Glu77Gln) c.139G>C (p.Glu47Gln) | |
| 11 | g.8090081G>T | CA379562573 | TUB | c.103G>T (p.Glu35Ter) c.268G>T (p.Glu90Ter) c.121G>T (p.Glu41Ter) c.229G>T (p.Glu77Ter) c.139G>T (p.Glu47Ter) | |
| 11 | g.8090081_8090087delinsGAGCAGA | CA1950953288 | TUB | c.103_109delinsGAGCAGA (p.Glu35=) c.268_274delinsGAGCAGA (p.Glu90=) c.121_127delinsGAGCAGA (p.Glu41=) c.229_235delinsGAGCAGA (p.Glu77=) c.139_145delinsGAGCAGA (p.Glu47=) | |
| 11 | g.8090082A>C | CA379562582 | TUB | c.104A>C (p.Glu35Ala) c.269A>C (p.Glu90Ala) c.122A>C (p.Glu41Ala) c.230A>C (p.Glu77Ala) c.140A>C (p.Glu47Ala) | |
| 11 | g.8090082A>G | CA379562583 | TUB | c.104A>G (p.Glu35Gly) c.269A>G (p.Glu90Gly) c.122A>G (p.Glu41Gly) c.230A>G (p.Glu77Gly) c.140A>G (p.Glu47Gly) | |
| 11 | g.8090082A>T | CA379562584 | TUB | c.104A>T (p.Glu35Val) c.269A>T (p.Glu90Val) c.122A>T (p.Glu41Val) c.230A>T (p.Glu77Val) c.140A>T (p.Glu47Val) | |
| 11 | g.8090090_8090095del | CA5870960 | TUB | c.112_117del (p.Gln38_Lys39del) c.277_282del (p.Gln93_Lys94del) c.130_135del (p.Gln44_Lys45del) c.238_243del (p.Gln80_Lys81del) c.148_153del (p.Gln50_Lys51del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090083G>A | CA473009044 | TUB | c.105G>A (p.Glu35=) c.270G>A (p.Glu90=) c.123G>A (p.Glu41=) c.231G>A (p.Glu77=) c.141G>A (p.Glu47=) | ClinVar dbSNP |
| 11 | g.8090083G>C | CA379562587 | TUB | c.105G>C (p.Glu35Asp) c.270G>C (p.Glu90Asp) c.123G>C (p.Glu41Asp) c.231G>C (p.Glu77Asp) c.141G>C (p.Glu47Asp) | |
| 11 | g.8090083G>T | CA379562589 | TUB | c.105G>T (p.Glu35Asp) c.270G>T (p.Glu90Asp) c.123G>T (p.Glu41Asp) c.231G>T (p.Glu77Asp) c.141G>T (p.Glu47Asp) | |
| 11 | g.8090084C>A | CA379562590 | TUB | c.106C>A (p.Gln36Lys) c.271C>A (p.Gln91Lys) c.124C>A (p.Gln42Lys) c.232C>A (p.Gln78Lys) c.142C>A (p.Gln48Lys) | |
| 11 | g.8090084C= | CA1950953290 | TUB | c.106C= (p.Gln36=) c.271C= (p.Gln91=) c.124C= (p.Gln42=) c.232C= (p.Gln78=) c.142C= (p.Gln48=) | |
| 11 | g.8090084C>G | CA379562591 | TUB | c.106C>G (p.Gln36Glu) c.271C>G (p.Gln91Glu) c.124C>G (p.Gln42Glu) c.232C>G (p.Gln78Glu) c.142C>G (p.Gln48Glu) | dbSNP |
| 11 | g.8090084C>T | CA379562592 | TUB | c.106C>T (p.Gln36Ter) c.271C>T (p.Gln91Ter) c.124C>T (p.Gln42Ter) c.232C>T (p.Gln78Ter) c.142C>T (p.Gln48Ter) | |
| 11 | g.8090085A>C | CA379562594 | TUB | c.107A>C (p.Gln36Pro) c.272A>C (p.Gln91Pro) c.125A>C (p.Gln42Pro) c.233A>C (p.Gln78Pro) c.143A>C (p.Gln48Pro) | |
| 11 | g.8090085A>G | CA379562596 | TUB | c.107A>G (p.Gln36Arg) c.272A>G (p.Gln91Arg) c.125A>G (p.Gln42Arg) c.233A>G (p.Gln78Arg) c.143A>G (p.Gln48Arg) | gnomAD v4 |
| 11 | g.8090085A>T | CA379562597 | TUB | c.107A>T (p.Gln36Leu) c.272A>T (p.Gln91Leu) c.125A>T (p.Gln42Leu) c.233A>T (p.Gln78Leu) c.143A>T (p.Gln48Leu) | |
| 11 | g.8090086G>A | CA473009045 | TUB | c.108G>A (p.Gln36=) c.273G>A (p.Gln91=) c.126G>A (p.Gln42=) c.234G>A (p.Gln78=) c.144G>A (p.Gln48=) | |
| 11 | g.8090086G>C | CA379562601 | TUB | c.108G>C (p.Gln36His) c.273G>C (p.Gln91His) c.126G>C (p.Gln42His) c.234G>C (p.Gln78His) c.144G>C (p.Gln48His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090086G= | CA1950953293 | TUB | c.108G= (p.Gln36=) c.273G= (p.Gln91=) c.126G= (p.Gln42=) c.234G= (p.Gln78=) c.144G= (p.Gln48=) | |
| 11 | g.8090086G>T | CA379562599 | TUB | c.108G>T (p.Gln36His) c.273G>T (p.Gln91His) c.126G>T (p.Gln42His) c.234G>T (p.Gln78His) c.144G>T (p.Gln48His) | |
| 11 | g.8090087A>C | CA379562603 | TUB | c.109A>C (p.Lys37Gln) c.274A>C (p.Lys92Gln) c.127A>C (p.Lys43Gln) c.235A>C (p.Lys79Gln) c.145A>C (p.Lys49Gln) | gnomAD v4 |
| 11 | g.8090087A>G | CA379562605 | TUB | c.109A>G (p.Lys37Glu) c.274A>G (p.Lys92Glu) c.127A>G (p.Lys43Glu) c.235A>G (p.Lys79Glu) c.145A>G (p.Lys49Glu) | |
| 11 | g.8090087A>T | CA379562606 | TUB | c.109A>T (p.Lys37Ter) c.274A>T (p.Lys92Ter) c.127A>T (p.Lys43Ter) c.235A>T (p.Lys79Ter) c.145A>T (p.Lys49Ter) | |
| 11 | g.8090088A= | CA1950953295 | TUB | c.110A= (p.Lys37=) c.275A= (p.Lys92=) c.128A= (p.Lys43=) c.236A= (p.Lys79=) c.146A= (p.Lys49=) | |
| 11 | g.8090088A>C | CA379562607 | TUB | c.110A>C (p.Lys37Thr) c.275A>C (p.Lys92Thr) c.128A>C (p.Lys43Thr) c.236A>C (p.Lys79Thr) c.146A>C (p.Lys49Thr) | |
| 11 | g.8090088A>G | CA379562608 | TUB | c.110A>G (p.Lys37Arg) c.275A>G (p.Lys92Arg) c.128A>G (p.Lys43Arg) c.236A>G (p.Lys79Arg) c.146A>G (p.Lys49Arg) | gnomAD v4 |
| 11 | g.8090088A>T | CA5870961 | TUB | c.110A>T (p.Lys37Met) c.275A>T (p.Lys92Met) c.128A>T (p.Lys43Met) c.236A>T (p.Lys79Met) c.146A>T (p.Lys49Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090089G>A | CA5870962 | TUB | c.111G>A (p.Lys37=) c.276G>A (p.Lys92=) c.129G>A (p.Lys43=) c.237G>A (p.Lys79=) c.147G>A (p.Lys49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090089G>C | CA379562609 | TUB | c.111G>C (p.Lys37Asn) c.276G>C (p.Lys92Asn) c.129G>C (p.Lys43Asn) c.237G>C (p.Lys79Asn) c.147G>C (p.Lys49Asn) | |
| 11 | g.8090089G= | CA1950953299 | TUB | c.111G= (p.Lys37=) c.276G= (p.Lys92=) c.129G= (p.Lys43=) c.237G= (p.Lys79=) c.147G= (p.Lys49=) | |
| 11 | g.8090089G>T | CA379562611 | TUB | c.111G>T (p.Lys37Asn) c.276G>T (p.Lys92Asn) c.129G>T (p.Lys43Asn) c.237G>T (p.Lys79Asn) c.147G>T (p.Lys49Asn) | |
| 11 | g.8090090del | CA2612330584 | TUB | c.112del (p.Gln38ArgfsTer9) c.277del (p.Gln93ArgfsTer9) c.130del (p.Gln44ArgfsTer9) c.238del (p.Gln80ArgfsTer9) c.148del (p.Gln50ArgfsTer9) | gnomAD v4 |
| 11 | g.8090090C>A | CA379562613 | TUB | c.112C>A (p.Gln38Lys) c.277C>A (p.Gln93Lys) c.130C>A (p.Gln44Lys) c.238C>A (p.Gln80Lys) c.148C>A (p.Gln50Lys) | |
| 11 | g.8090090C>G | CA379562615 | TUB | c.112C>G (p.Gln38Glu) c.277C>G (p.Gln93Glu) c.130C>G (p.Gln44Glu) c.238C>G (p.Gln80Glu) c.148C>G (p.Gln50Glu) | |
| 11 | g.8090090C>T | CA379562616 | TUB | c.112C>T (p.Gln38Ter) c.277C>T (p.Gln93Ter) c.130C>T (p.Gln44Ter) c.238C>T (p.Gln80Ter) c.148C>T (p.Gln50Ter) | |
| 11 | g.8090090_8090093delinsCAGA | CA1950953302 | TUB | c.112_115delinsCAGA (p.Gln38=) c.277_280delinsCAGA (p.Gln93=) c.130_133delinsCAGA (p.Gln44=) c.238_241delinsCAGA (p.Gln80=) c.148_151delinsCAGA (p.Gln50=) | |
| 11 | g.8090091A>C | CA379562618 | TUB | c.113A>C (p.Gln38Pro) c.278A>C (p.Gln93Pro) c.131A>C (p.Gln44Pro) c.239A>C (p.Gln80Pro) c.149A>C (p.Gln50Pro) | |
| 11 | g.8090091A>G | CA379562620 | TUB | c.113A>G (p.Gln38Arg) c.278A>G (p.Gln93Arg) c.131A>G (p.Gln44Arg) c.239A>G (p.Gln80Arg) c.149A>G (p.Gln50Arg) | |
| 11 | g.8090091A>T | CA379562619 | TUB | c.113A>T (p.Gln38Leu) c.278A>T (p.Gln93Leu) c.131A>T (p.Gln44Leu) c.239A>T (p.Gln80Leu) c.149A>T (p.Gln50Leu) | |
| 11 | g.8090099_8090101dup | CA5870964 | TUB | c.121_123dup (p.Lys41_Arg42insLys) c.286_288dup (p.Lys96_Arg97insLys) c.139_141dup (p.Lys47_Arg48insLys) c.247_249dup (p.Lys83_Arg84insLys) c.157_159dup (p.Lys53_Arg54insLys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.8090099_8090101del | CA5870963 | TUB | c.121_123del (p.Lys41del) c.286_288del (p.Lys96del) c.139_141del (p.Lys47del) c.247_249del (p.Lys83del) c.157_159del (p.Lys53del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.8090092G>A | CA5870965 | TUB | c.114G>A (p.Gln38=) c.279G>A (p.Gln93=) c.132G>A (p.Gln44=) c.240G>A (p.Gln80=) c.150G>A (p.Gln50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090092G>C | CA379562624 | TUB | c.114G>C (p.Gln38His) c.279G>C (p.Gln93His) c.132G>C (p.Gln44His) c.240G>C (p.Gln80His) c.150G>C (p.Gln50His) | |
| 11 | g.8090092G= | CA1950953312 | TUB | c.114G= (p.Gln38=) c.279G= (p.Gln93=) c.132G= (p.Gln44=) c.240G= (p.Gln80=) c.150G= (p.Gln50=) | |
| 11 | g.8090092G>T | CA379562625 | TUB | c.114G>T (p.Gln38His) c.279G>T (p.Gln93His) c.132G>T (p.Gln44His) c.240G>T (p.Gln80His) c.150G>T (p.Gln50His) | |
| 11 | g.8090093A>C | CA379562626 | TUB | c.115A>C (p.Lys39Gln) c.280A>C (p.Lys94Gln) c.133A>C (p.Lys45Gln) c.241A>C (p.Lys81Gln) c.151A>C (p.Lys51Gln) | |
| 11 | g.8090093A>G | CA379562628 | TUB | c.115A>G (p.Lys39Glu) c.280A>G (p.Lys94Glu) c.133A>G (p.Lys45Glu) c.241A>G (p.Lys81Glu) c.151A>G (p.Lys51Glu) | |
| 11 | g.8090093A>T | CA379562630 | TUB | c.115A>T (p.Lys39Ter) c.280A>T (p.Lys94Ter) c.133A>T (p.Lys45Ter) c.241A>T (p.Lys81Ter) c.151A>T (p.Lys51Ter) | |
| 11 | g.8090094A>C | CA379562631 | TUB | c.116A>C (p.Lys39Thr) c.281A>C (p.Lys94Thr) c.134A>C (p.Lys45Thr) c.242A>C (p.Lys81Thr) c.152A>C (p.Lys51Thr) | |
| 11 | g.8090094A>G | CA379562632 | TUB | c.116A>G (p.Lys39Arg) c.281A>G (p.Lys94Arg) c.134A>G (p.Lys45Arg) c.242A>G (p.Lys81Arg) c.152A>G (p.Lys51Arg) | |
| 11 | g.8090094A>T | CA379562633 | TUB | c.116A>T (p.Lys39Met) c.281A>T (p.Lys94Met) c.134A>T (p.Lys45Met) c.242A>T (p.Lys81Met) c.152A>T (p.Lys51Met) | |
| 11 | g.8090095G>A | CA473009046 | TUB | c.117G>A (p.Lys39=) c.282G>A (p.Lys94=) c.135G>A (p.Lys45=) c.243G>A (p.Lys81=) c.153G>A (p.Lys51=) | |
| 11 | g.8090095G>C | CA379562636 | TUB | c.117G>C (p.Lys39Asn) c.282G>C (p.Lys94Asn) c.135G>C (p.Lys45Asn) c.243G>C (p.Lys81Asn) c.153G>C (p.Lys51Asn) | |
| 11 | g.8090095G>T | CA379562637 | TUB | c.117G>T (p.Lys39Asn) c.282G>T (p.Lys94Asn) c.135G>T (p.Lys45Asn) c.243G>T (p.Lys81Asn) c.153G>T (p.Lys51Asn) | |
| 11 | g.8090096A= | CA1950953316 | TUB | c.118A= (p.Lys40=) c.283A= (p.Lys95=) c.136A= (p.Lys46=) c.244A= (p.Lys82=) c.154A= (p.Lys52=) | |
| 11 | g.8090096A>C | CA5870966 | TUB | c.118A>C (p.Lys40Gln) c.283A>C (p.Lys95Gln) c.136A>C (p.Lys46Gln) c.244A>C (p.Lys82Gln) c.154A>C (p.Lys52Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.8090096A>G | CA379562639 | TUB | c.118A>G (p.Lys40Glu) c.283A>G (p.Lys95Glu) c.136A>G (p.Lys46Glu) c.244A>G (p.Lys82Glu) c.154A>G (p.Lys52Glu) | |
| 11 | g.8090096A>T | CA379562640 | TUB | c.118A>T (p.Lys40Ter) c.283A>T (p.Lys95Ter) c.136A>T (p.Lys46Ter) c.244A>T (p.Lys82Ter) c.154A>T (p.Lys52Ter) | |
| 11 | g.8090097A>C | CA379562642 | TUB | c.119A>C (p.Lys40Thr) c.284A>C (p.Lys95Thr) c.137A>C (p.Lys46Thr) c.245A>C (p.Lys82Thr) c.155A>C (p.Lys52Thr) | |
| 11 | g.8090097A>G | CA379562649 | TUB | c.119A>G (p.Lys40Arg) c.284A>G (p.Lys95Arg) c.137A>G (p.Lys46Arg) c.245A>G (p.Lys82Arg) c.155A>G (p.Lys52Arg) | gnomAD v4 |
| 11 | g.8090097A>T | CA379562651 | TUB | c.119A>T (p.Lys40Met) c.284A>T (p.Lys95Met) c.137A>T (p.Lys46Met) c.245A>T (p.Lys82Met) c.155A>T (p.Lys52Met) | |
| 11 | g.8090098G>A | CA473009047 | TUB | c.120G>A (p.Lys40=) c.285G>A (p.Lys95=) c.138G>A (p.Lys46=) c.246G>A (p.Lys82=) c.156G>A (p.Lys52=) | gnomAD v4 |
| 11 | g.8090098G>C | CA379562653 | TUB | c.120G>C (p.Lys40Asn) c.285G>C (p.Lys95Asn) c.138G>C (p.Lys46Asn) c.246G>C (p.Lys82Asn) c.156G>C (p.Lys52Asn) | |
| 11 | g.8090098G= | CA1950953319 | TUB | c.120G= (p.Lys40=) c.285G= (p.Lys95=) c.138G= (p.Lys46=) c.246G= (p.Lys82=) c.156G= (p.Lys52=) | |
| 11 | g.8090098G>T | CA379562655 | TUB | c.120G>T (p.Lys40Asn) c.285G>T (p.Lys95Asn) c.138G>T (p.Lys46Asn) c.246G>T (p.Lys82Asn) c.156G>T (p.Lys52Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090099A= | CA1950953323 | TUB | c.121A= (p.Lys41=) c.286A= (p.Lys96=) c.139A= (p.Lys47=) c.247A= (p.Lys83=) c.157A= (p.Lys53=) | |
| 11 | g.8090099A>C | CA5870967 | TUB | c.121A>C (p.Lys41Gln) c.286A>C (p.Lys96Gln) c.139A>C (p.Lys47Gln) c.247A>C (p.Lys83Gln) c.157A>C (p.Lys53Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.8090099A>G | CA379562659 | TUB | c.121A>G (p.Lys41Glu) c.286A>G (p.Lys96Glu) c.139A>G (p.Lys47Glu) c.247A>G (p.Lys83Glu) c.157A>G (p.Lys53Glu) | |
| 11 | g.8090099A>T | CA379562661 | TUB | c.121A>T (p.Lys41Ter) c.286A>T (p.Lys96Ter) c.139A>T (p.Lys47Ter) c.247A>T (p.Lys83Ter) c.157A>T (p.Lys53Ter) | gnomAD v4 COSMIC |
| 11 | g.8090100A= | CA1950953327 | TUB | c.122A= (p.Lys41=) c.287A= (p.Lys96=) c.140A= (p.Lys47=) c.248A= (p.Lys83=) c.158A= (p.Lys53=) | |
| 11 | g.8090100A>C | CA379562663 | TUB | c.122A>C (p.Lys41Thr) c.287A>C (p.Lys96Thr) c.140A>C (p.Lys47Thr) c.248A>C (p.Lys83Thr) c.158A>C (p.Lys53Thr) | |
| 11 | g.8090100A>G | CA379562664 | TUB | c.122A>G (p.Lys41Arg) c.287A>G (p.Lys96Arg) c.140A>G (p.Lys47Arg) c.248A>G (p.Lys83Arg) c.158A>G (p.Lys53Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090100A>T | CA379562665 | TUB | c.122A>T (p.Lys41Met) c.287A>T (p.Lys96Met) c.140A>T (p.Lys47Met) c.248A>T (p.Lys83Met) c.158A>T (p.Lys53Met) | |
| 11 | g.8090101G>A | CA5870968 | TUB | c.123G>A (p.Lys41=) c.288G>A (p.Lys96=) c.141G>A (p.Lys47=) c.249G>A (p.Lys83=) c.159G>A (p.Lys53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090101G>C | CA379562667 | TUB | c.123G>C (p.Lys41Asn) c.288G>C (p.Lys96Asn) c.141G>C (p.Lys47Asn) c.249G>C (p.Lys83Asn) c.159G>C (p.Lys53Asn) | |
| 11 | g.8090101G= | CA1950953332 | TUB | c.123G= (p.Lys41=) c.288G= (p.Lys96=) c.141G= (p.Lys47=) c.249G= (p.Lys83=) c.159G= (p.Lys53=) | |
| 11 | g.8090101G>T | CA379562666 | TUB | c.123G>T (p.Lys41Asn) c.288G>T (p.Lys96Asn) c.141G>T (p.Lys47Asn) c.249G>T (p.Lys83Asn) c.159G>T (p.Lys53Asn) | |
| 11 | g.8090102C>A | CA5870969 | TUB | c.124C>A (p.Arg42Ser) c.289C>A (p.Arg97Ser) c.142C>A (p.Arg48Ser) c.250C>A (p.Arg84Ser) c.160C>A (p.Arg54Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.8090102C= | CA1950953338 | TUB | c.124C= (p.Arg42=) c.289C= (p.Arg97=) c.142C= (p.Arg48=) c.250C= (p.Arg84=) c.160C= (p.Arg54=) | |
| 11 | g.8090102C>G | CA379562670 | TUB | c.124C>G (p.Arg42Gly) c.289C>G (p.Arg97Gly) c.142C>G (p.Arg48Gly) c.250C>G (p.Arg84Gly) c.160C>G (p.Arg54Gly) | |
| 11 | g.8090102C>T | CA217415545 | TUB | c.124C>T (p.Arg42Cys) c.289C>T (p.Arg97Cys) c.142C>T (p.Arg48Cys) c.250C>T (p.Arg84Cys) c.160C>T (p.Arg54Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.8090103G>A | CA5870970 | TUB | c.125G>A (p.Arg42His) c.290G>A (p.Arg97His) c.143G>A (p.Arg48His) c.251G>A (p.Arg84His) c.161G>A (p.Arg54His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090103G>C | CA379562671 | TUB | c.125G>C (p.Arg42Pro) c.290G>C (p.Arg97Pro) c.143G>C (p.Arg48Pro) c.251G>C (p.Arg84Pro) c.161G>C (p.Arg54Pro) | |
| 11 | g.8090103G= | CA1950953345 | TUB | c.125G= (p.Arg42=) c.290G= (p.Arg97=) c.143G= (p.Arg48=) c.251G= (p.Arg84=) c.161G= (p.Arg54=) | |
| 11 | g.8090103G>T | CA379562672 | TUB | c.125G>T (p.Arg42Leu) c.290G>T (p.Arg97Leu) c.143G>T (p.Arg48Leu) c.251G>T (p.Arg84Leu) c.161G>T (p.Arg54Leu) | dbSNP gnomAD v4 |
| 11 | g.8090104C>A | CA473009048 | TUB | c.126C>A (p.Arg42=) c.291C>A (p.Arg97=) c.144C>A (p.Arg48=) c.252C>A (p.Arg84=) c.162C>A (p.Arg54=) | |
| 11 | g.8090104C>G | CA473009049 | TUB | c.126C>G (p.Arg42=) c.291C>G (p.Arg97=) c.144C>G (p.Arg48=) c.252C>G (p.Arg84=) c.162C>G (p.Arg54=) | gnomAD v4 |
| 11 | g.8090104C>T | CA473009050 | TUB | c.126C>T (p.Arg42=) c.291C>T (p.Arg97=) c.144C>T (p.Arg48=) c.252C>T (p.Arg84=) c.162C>T (p.Arg54=) | gnomAD v4 |
| 11 | g.8090105del | CA2741147967 | TUB | c.127del (p.Gln43ArgfsTer4) c.292del (p.Gln98ArgfsTer4) c.145del (p.Gln49ArgfsTer4) c.253del (p.Gln85ArgfsTer4) c.163del (p.Gln55ArgfsTer4) | |
| 11 | g.8090105C>A | CA379562676 | TUB | c.127C>A (p.Gln43Lys) c.292C>A (p.Gln98Lys) c.145C>A (p.Gln49Lys) c.253C>A (p.Gln85Lys) c.163C>A (p.Gln55Lys) | |
| 11 | g.8090105C>G | CA379562673 | TUB | c.127C>G (p.Gln43Glu) c.292C>G (p.Gln98Glu) c.145C>G (p.Gln49Glu) c.253C>G (p.Gln85Glu) c.163C>G (p.Gln55Glu) | |
| 11 | g.8090105C>T | CA379562675 | TUB | c.127C>T (p.Gln43Ter) c.292C>T (p.Gln98Ter) c.145C>T (p.Gln49Ter) c.253C>T (p.Gln85Ter) c.163C>T (p.Gln55Ter) | |
| 11 | g.8090106A>C | CA379562679 | TUB | c.128A>C (p.Gln43Pro) c.293A>C (p.Gln98Pro) c.146A>C (p.Gln49Pro) c.254A>C (p.Gln85Pro) c.164A>C (p.Gln55Pro) | |
| 11 | g.8090106A>G | CA379562681 | TUB | c.128A>G (p.Gln43Arg) c.293A>G (p.Gln98Arg) c.146A>G (p.Gln49Arg) c.254A>G (p.Gln85Arg) c.164A>G (p.Gln55Arg) | |
| 11 | g.8090106A>T | CA379562683 | TUB | c.128A>T (p.Gln43Leu) c.293A>T (p.Gln98Leu) c.146A>T (p.Gln49Leu) c.254A>T (p.Gln85Leu) c.164A>T (p.Gln55Leu) | |
| 11 | g.8090107G>A | CA473009051 | TUB | c.129G>A (p.Gln43=) c.294G>A (p.Gln98=) c.147G>A (p.Gln49=) c.255G>A (p.Gln85=) c.165G>A (p.Gln55=) | |
| 11 | g.8090107G>C | CA379562685 | TUB | c.129G>C (p.Gln43His) c.294G>C (p.Gln98His) c.147G>C (p.Gln49His) c.255G>C (p.Gln85His) c.165G>C (p.Gln55His) | |
| 11 | g.8090107G>T | CA379562686 | TUB | c.129G>T (p.Gln43His) c.294G>T (p.Gln98His) c.147G>T (p.Gln49His) c.255G>T (p.Gln85His) c.165G>T (p.Gln55His) | |
| 11 | g.8090108G>A | CA379562690 | TUB | c.130G>A (p.Glu44Lys) c.295G>A (p.Glu99Lys) c.148G>A (p.Glu50Lys) c.256G>A (p.Glu86Lys) c.166G>A (p.Glu56Lys) | dbSNP gnomAD v4 |
| 11 | g.8090108G>C | CA379562688 | TUB | c.130G>C (p.Glu44Gln) c.295G>C (p.Glu99Gln) c.148G>C (p.Glu50Gln) c.256G>C (p.Glu86Gln) c.166G>C (p.Glu56Gln) | |
| 11 | g.8090108G= | CA1950953348 | TUB | c.130G= (p.Glu44=) c.295G= (p.Glu99=) c.148G= (p.Glu50=) c.256G= (p.Glu86=) c.166G= (p.Glu56=) | |
| 11 | g.8090108G>T | CA379562689 | TUB | c.130G>T (p.Glu44Ter) c.295G>T (p.Glu99Ter) c.148G>T (p.Glu50Ter) c.256G>T (p.Glu86Ter) c.166G>T (p.Glu56Ter) | |
| 11 | g.8090109A>C | CA379562691 | TUB | c.131A>C (p.Glu44Ala) c.296A>C (p.Glu99Ala) c.149A>C (p.Glu50Ala) c.257A>C (p.Glu86Ala) c.167A>C (p.Glu56Ala) | |
| 11 | g.8090109A>G | CA379562693 | TUB | c.131A>G (p.Glu44Gly) c.296A>G (p.Glu99Gly) c.149A>G (p.Glu50Gly) c.257A>G (p.Glu86Gly) c.167A>G (p.Glu56Gly) | |
| 11 | g.8090109A>T | CA379562694 | TUB | c.131A>T (p.Glu44Val) c.296A>T (p.Glu99Val) c.149A>T (p.Glu50Val) c.257A>T (p.Glu86Val) c.167A>T (p.Glu56Val) | |
| 11 | g.8090110G>A | CA473009052 | TUB | c.132G>A (p.Glu44=) c.297G>A (p.Glu99=) c.150G>A (p.Glu50=) c.258G>A (p.Glu86=) c.168G>A (p.Glu56=) | |
| 11 | g.8090110G>C | CA379562696 | TUB | c.132G>C (p.Glu44Asp) c.297G>C (p.Glu99Asp) c.150G>C (p.Glu50Asp) c.258G>C (p.Glu86Asp) c.168G>C (p.Glu56Asp) | |
| 11 | g.8090110G>T | CA379562697 | TUB | c.132G>T (p.Glu44Asp) c.297G>T (p.Glu99Asp) c.150G>T (p.Glu50Asp) c.258G>T (p.Glu86Asp) c.168G>T (p.Glu56Asp) | |
| 11 | g.8090111C>A | CA379562700 | TUB | c.133C>A (p.Pro45Thr) c.298C>A (p.Pro100Thr) c.151C>A (p.Pro51Thr) c.259C>A (p.Pro87Thr) c.169C>A (p.Pro57Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.8090111C= | CA1950953351 | TUB | c.133C= (p.Pro45=) c.298C= (p.Pro100=) c.151C= (p.Pro51=) c.259C= (p.Pro87=) c.169C= (p.Pro57=) | |
| 11 | g.8090111C>G | CA379562702 | TUB | c.133C>G (p.Pro45Ala) c.298C>G (p.Pro100Ala) c.151C>G (p.Pro51Ala) c.259C>G (p.Pro87Ala) c.169C>G (p.Pro57Ala) | |
| 11 | g.8090111C>T | CA379562704 | TUB | c.133C>T (p.Pro45Ser) c.298C>T (p.Pro100Ser) c.151C>T (p.Pro51Ser) c.259C>T (p.Pro87Ser) c.169C>T (p.Pro57Ser) | |
| 11 | g.8090112C>A | CA379562706 | TUB | c.134C>A (p.Pro45His) c.299C>A (p.Pro100His) c.152C>A (p.Pro51His) c.260C>A (p.Pro87His) c.170C>A (p.Pro57His) | |
| 11 | g.8090112C= | CA1950953355 | TUB | c.134C= (p.Pro45=) c.299C= (p.Pro100=) c.152C= (p.Pro51=) c.260C= (p.Pro87=) c.170C= (p.Pro57=) | |
| 11 | g.8090112C>G | CA379562711 | TUB | c.134C>G (p.Pro45Arg) c.299C>G (p.Pro100Arg) c.152C>G (p.Pro51Arg) c.260C>G (p.Pro87Arg) c.170C>G (p.Pro57Arg) | |
| 11 | g.8090112C>T | CA379562712 | TUB | c.134C>T (p.Pro45Leu) c.299C>T (p.Pro100Leu) c.152C>T (p.Pro51Leu) c.260C>T (p.Pro87Leu) c.170C>T (p.Pro57Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.8090113C>A | CA473009053 | TUB | c.135C>A (p.Pro45=) c.300C>A (p.Pro100=) c.153C>A (p.Pro51=) c.261C>A (p.Pro87=) c.171C>A (p.Pro57=) | |
| 11 | g.8090113C>G | CA473009054 | TUB | c.135C>G (p.Pro45=) c.300C>G (p.Pro100=) c.153C>G (p.Pro51=) c.261C>G (p.Pro87=) c.171C>G (p.Pro57=) | gnomAD v4 |
| 11 | g.8090113C>T | CA473009055 | TUB | c.135C>T (p.Pro45=) c.300C>T (p.Pro100=) c.153C>T (p.Pro51=) c.261C>T (p.Pro87=) c.171C>T (p.Pro57=) | |
| 11 | g.8090114C>A | CA379562715 | TUB | c.136C>A (p.Leu46Met) c.301C>A (p.Leu101Met) c.154C>A (p.Leu52Met) c.262C>A (p.Leu88Met) c.172C>A (p.Leu58Met) | |
| 11 | g.8090114C>G | CA379562717 | TUB | c.136C>G (p.Leu46Val) c.301C>G (p.Leu101Val) c.154C>G (p.Leu52Val) c.262C>G (p.Leu88Val) c.172C>G (p.Leu58Val) | |
| 11 | g.8090114C>T | CA473009056 | TUB | c.136C>T (p.Leu46=) c.301C>T (p.Leu101=) c.154C>T (p.Leu52=) c.262C>T (p.Leu88=) c.172C>T (p.Leu58=) | |
| 11 | g.8090115T>A | CA379562720 | TUB | c.137T>A (p.Leu46Gln) c.302T>A (p.Leu101Gln) c.155T>A (p.Leu52Gln) c.263T>A (p.Leu88Gln) c.173T>A (p.Leu58Gln) | |
| 11 | g.8090115T>C | CA379562723 | TUB | c.137T>C (p.Leu46Pro) c.302T>C (p.Leu101Pro) c.155T>C (p.Leu52Pro) c.263T>C (p.Leu88Pro) c.173T>C (p.Leu58Pro) | gnomAD v4 |
| 11 | g.8090115T>G | CA379562721 | TUB | c.137T>G (p.Leu46Arg) c.302T>G (p.Leu101Arg) c.155T>G (p.Leu52Arg) c.263T>G (p.Leu88Arg) c.173T>G (p.Leu58Arg) | |
| 11 | g.8090116G>A | CA473009057 | TUB | c.138G>A (p.Leu46=) c.303G>A (p.Leu101=) c.156G>A (p.Leu52=) c.264G>A (p.Leu88=) c.174G>A (p.Leu58=) | |
| 11 | g.8090116G>C | CA473009058 | TUB | c.138G>C (p.Leu46=) c.303G>C (p.Leu101=) c.156G>C (p.Leu52=) c.264G>C (p.Leu88=) c.174G>C (p.Leu58=) | |
| 11 | g.8090116G>T | CA473009059 | TUB | c.138G>T (p.Leu46=) c.303G>T (p.Leu101=) c.156G>T (p.Leu52=) c.264G>T (p.Leu88=) c.174G>T (p.Leu58=) | |
| 11 | g.8090117A>C | CA379562726 | TUB | c.139A>C (p.Met47Leu) c.304A>C (p.Met102Leu) c.157A>C (p.Met53Leu) c.265A>C (p.Met89Leu) c.175A>C (p.Met59Leu) | |
| 11 | g.8090117A>G | CA379562728 | TUB | c.139A>G (p.Met47Val) c.304A>G (p.Met102Val) c.157A>G (p.Met53Val) c.265A>G (p.Met89Val) c.175A>G (p.Met59Val) | |
| 11 | g.8090117A>T | CA379562729 | TUB | c.139A>T (p.Met47Leu) c.304A>T (p.Met102Leu) c.157A>T (p.Met53Leu) c.265A>T (p.Met89Leu) c.175A>T (p.Met59Leu) | |
| 11 | g.8090118T>A | CA379562731 | TUB | c.140T>A (p.Met47Lys) c.305T>A (p.Met102Lys) c.158T>A (p.Met53Lys) c.266T>A (p.Met89Lys) c.176T>A (p.Met59Lys) | |
| 11 | g.8090118T>C | CA379562733 | TUB | c.140T>C (p.Met47Thr) c.305T>C (p.Met102Thr) c.158T>C (p.Met53Thr) c.266T>C (p.Met89Thr) c.176T>C (p.Met59Thr) | |
| 11 | g.8090118T>G | CA379562735 | TUB | c.140T>G (p.Met47Arg) c.305T>G (p.Met102Arg) c.158T>G (p.Met53Arg) c.266T>G (p.Met89Arg) c.176T>G (p.Met59Arg) | |
| 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) |