OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.59024386_59024394del | CA2577437669 | TUBB1 | c.959_967del (p.Lys320_Ser322del) c.893_901del (p.Lys298_Ser300del) | |
| 20 | g.59024387G>A | CA9928627 | TUBB1 | c.960G>A (p.Lys320=) c.894G>A (p.Lys298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024387G>C | CA409468016 | TUBB1 | c.960G>C (p.Lys320Asn) c.894G>C (p.Lys298Asn) | |
| 20 | g.59024387G= | CA2372582218 | TUBB1 | c.960G= (p.Lys320=) c.894G= (p.Lys298=) | |
| 20 | g.59024387G>T | CA409468017 | TUBB1 | c.960G>T (p.Lys320Asn) c.894G>T (p.Lys298Asn) | |
| 20 | g.59024388A>C | CA409468019 | TUBB1 | c.961A>C (p.Met321Leu) c.895A>C (p.Met299Leu) | |
| 20 | g.59024388A>G | CA409468020 | TUBB1 | c.961A>G (p.Met321Val) c.895A>G (p.Met299Val) | |
| 20 | g.59024388A>T | CA409468018 | TUBB1 | c.961A>T (p.Met321Leu) c.895A>T (p.Met299Leu) | |
| 20 | g.59024389T>A | CA409468023 | TUBB1 | c.962T>A (p.Met321Lys) c.896T>A (p.Met299Lys) | |
| 20 | g.59024389T>C | CA409468021 | TUBB1 | c.962T>C (p.Met321Thr) c.896T>C (p.Met299Thr) | |
| 20 | g.59024389T>G | CA409468022 | TUBB1 | c.962T>G (p.Met321Arg) c.896T>G (p.Met299Arg) | |
| 20 | g.59024390G>A | CA409468024 | TUBB1 | c.963G>A (p.Met321Ile) c.897G>A (p.Met299Ile) | |
| 20 | g.59024390G>C | CA409468025 | TUBB1 | c.963G>C (p.Met321Ile) c.897G>C (p.Met299Ile) | |
| 20 | g.59024390G>T | CA409468026 | TUBB1 | c.963G>T (p.Met321Ile) c.897G>T (p.Met299Ile) | |
| 20 | g.59024391T>A | CA409468028 | TUBB1 | c.964T>A (p.Ser322Thr) c.898T>A (p.Ser300Thr) | |
| 20 | g.59024391T>C | CA9928628 | TUBB1 | c.964T>C (p.Ser322Pro) c.898T>C (p.Ser300Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.59024391T>G | CA409468027 | TUBB1 | c.964T>G (p.Ser322Ala) c.898T>G (p.Ser300Ala) | |
| 20 | g.59024391T= | CA2372582219 | TUBB1 | c.964T= (p.Ser322=) c.898T= (p.Ser300=) | |
| 20 | g.59024392C>A | CA409468029 | TUBB1 | c.965C>A (p.Ser322Tyr) c.899C>A (p.Ser300Tyr) | |
| 20 | g.59024392C= | CA2372582220 | TUBB1 | c.965C= (p.Ser322=) c.899C= (p.Ser300=) | |
| 20 | g.59024392C>G | CA409468030 | TUBB1 | c.965C>G (p.Ser322Cys) c.899C>G (p.Ser300Cys) | |
| 20 | g.59024392C>T | CA9928629 | TUBB1 | c.965C>T (p.Ser322Phe) c.899C>T (p.Ser300Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024393C>A | CA511316672 | TUBB1 | c.966C>A (p.Ser322=) c.900C>A (p.Ser300=) | |
| 20 | g.59024393C>G | CA511316673 | TUBB1 | c.966C>G (p.Ser322=) c.900C>G (p.Ser300=) | |
| 20 | g.59024393C>T | CA511316674 | TUBB1 | c.966C>T (p.Ser322=) c.900C>T (p.Ser300=) | |
| 20 | g.59024394A>C | CA409468031 | TUBB1 | c.967A>C (p.Thr323Pro) c.901A>C (p.Thr301Pro) | |
| 20 | g.59024394A>G | CA409468032 | TUBB1 | c.967A>G (p.Thr323Ala) c.901A>G (p.Thr301Ala) | |
| 20 | g.59024394A>T | CA409468033 | TUBB1 | c.967A>T (p.Thr323Ser) c.901A>T (p.Thr301Ser) | |
| 20 | g.59024395C>A | CA409468035 | TUBB1 | c.968C>A (p.Thr323Asn) c.902C>A (p.Thr301Asn) | |
| 20 | g.59024395C= | CA2372582221 | TUBB1 | c.968C= (p.Thr323=) c.902C= (p.Thr301=) | |
| 20 | g.59024395C>G | CA409468034 | TUBB1 | c.968C>G (p.Thr323Ser) c.902C>G (p.Thr301Ser) | |
| 20 | g.59024395C>T | CA9928630 | TUBB1 | c.968C>T (p.Thr323Ile) c.902C>T (p.Thr301Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024396C>A | CA511316675 | TUBB1 | c.969C>A (p.Thr323=) c.903C>A (p.Thr301=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024396C= | CA2372582222 | TUBB1 | c.969C= (p.Thr323=) c.903C= (p.Thr301=) | |
| 20 | g.59024396C>G | CA511316676 | TUBB1 | c.969C>G (p.Thr323=) c.903C>G (p.Thr301=) | gnomAD v4 |
| 20 | g.59024396C>T | CA511316677 | TUBB1 | c.969C>T (p.Thr323=) c.903C>T (p.Thr301=) | |
| 20 | g.59024397A>C | CA409468036 | TUBB1 | c.970A>C (p.Lys324Gln) c.904A>C (p.Lys302Gln) | |
| 20 | g.59024397A>G | CA409468037 | TUBB1 | c.970A>G (p.Lys324Glu) c.904A>G (p.Lys302Glu) | |
| 20 | g.59024397A>T | CA409468038 | TUBB1 | c.970A>T (p.Lys324Ter) c.904A>T (p.Lys302Ter) | |
| 20 | g.59024398A>C | CA409468039 | TUBB1 | c.971A>C (p.Lys324Thr) c.905A>C (p.Lys302Thr) | |
| 20 | g.59024398A>G | CA409468040 | TUBB1 | c.971A>G (p.Lys324Arg) c.905A>G (p.Lys302Arg) | gnomAD v4 |
| 20 | g.59024398A>T | CA409468041 | TUBB1 | c.971A>T (p.Lys324Met) c.905A>T (p.Lys302Met) | |
| 20 | g.59024399G>A | CA9928631 | TUBB1 | c.972G>A (p.Lys324=) c.906G>A (p.Lys302=) | dbSNP ExAC |
| 20 | g.59024399G>C | CA409468042 | TUBB1 | c.972G>C (p.Lys324Asn) c.906G>C (p.Lys302Asn) | |
| 20 | g.59024399G= | CA2372582223 | TUBB1 | c.972G= (p.Lys324=) c.906G= (p.Lys302=) | |
| 20 | g.59024399G>T | CA409468043 | TUBB1 | c.972G>T (p.Lys324Asn) c.906G>T (p.Lys302Asn) | |
| 20 | g.59024400dup | CA2577437670 | TUBB1 | c.973dup (p.Glu325GlyfsTer?) c.907dup (p.Glu303GlyfsTer?) | |
| 20 | g.59024400G>A | CA409468044 | TUBB1 | c.973G>A (p.Glu325Lys) c.907G>A (p.Glu303Lys) | |
| 20 | g.59024400G>C | CA409468045 | TUBB1 | c.973G>C (p.Glu325Gln) c.907G>C (p.Glu303Gln) | |
| 20 | g.59024400G>T | CA409468046 | TUBB1 | c.973G>T (p.Glu325Ter) c.907G>T (p.Glu303Ter) | |
| 20 | g.59024401A>C | CA409468047 | TUBB1 | c.974A>C (p.Glu325Ala) c.908A>C (p.Glu303Ala) | |
| 20 | g.59024401A>G | CA409468049 | TUBB1 | c.974A>G (p.Glu325Gly) c.908A>G (p.Glu303Gly) | gnomAD v4 |
| 20 | g.59024401A>T | CA409468048 | TUBB1 | c.974A>T (p.Glu325Val) c.908A>T (p.Glu303Val) | |
| 20 | g.59024402A>C | CA409468050 | TUBB1 | c.975A>C (p.Glu325Asp) c.909A>C (p.Glu303Asp) | |
| 20 | g.59024402A>G | CA511316678 | TUBB1 | c.975A>G (p.Glu325=) c.909A>G (p.Glu303=) | |
| 20 | g.59024402A>T | CA409468051 | TUBB1 | c.975A>T (p.Glu325Asp) c.909A>T (p.Glu303Asp) | |
| 20 | g.59024403G>A | CA409468052 | TUBB1 | c.976G>A (p.Val326Met) c.910G>A (p.Val304Met) | |
| 20 | g.59024403G>C | CA409468053 | TUBB1 | c.976G>C (p.Val326Leu) c.910G>C (p.Val304Leu) | gnomAD v4 |
| 20 | g.59024403G>T | CA409468054 | TUBB1 | c.976G>T (p.Val326Leu) c.910G>T (p.Val304Leu) | ClinVar dbSNP |
| 20 | g.59024404_59024405del | CA2653535375 | TUBB1 | c.977_978del (p.Val326GlyfsTer?) c.911_912del (p.Val304GlyfsTer?) | gnomAD v4 |
| 20 | g.59024404T>A | CA409468055 | TUBB1 | c.977T>A (p.Val326Glu) c.911T>A (p.Val304Glu) | |
| 20 | g.59024404T>C | CA409468056 | TUBB1 | c.977T>C (p.Val326Ala) c.911T>C (p.Val304Ala) | gnomAD v4 |
| 20 | g.59024404T>G | CA409468057 | TUBB1 | c.977T>G (p.Val326Gly) c.911T>G (p.Val304Gly) | |
| 20 | g.59024405G>A | CA511316679 | TUBB1 | c.978G>A (p.Val326=) c.912G>A (p.Val304=) | gnomAD v4 |
| 20 | g.59024405G>C | CA511316680 | TUBB1 | c.978G>C (p.Val326=) c.912G>C (p.Val304=) | |
| 20 | g.59024405G>T | CA511316681 | TUBB1 | c.978G>T (p.Val326=) c.912G>T (p.Val304=) | |
| 20 | g.59024406G>A | CA409468058 | TUBB1 | c.979G>A (p.Asp327Asn) c.913G>A (p.Asp305Asn) | |
| 20 | g.59024406G>C | CA409468059 | TUBB1 | c.979G>C (p.Asp327His) c.913G>C (p.Asp305His) | |
| 20 | g.59024406G>T | CA409468060 | TUBB1 | c.979G>T (p.Asp327Tyr) c.913G>T (p.Asp305Tyr) | |
| 20 | g.59024407A>C | CA409468063 | TUBB1 | c.980A>C (p.Asp327Ala) c.914A>C (p.Asp305Ala) | |
| 20 | g.59024407A>G | CA409468062 | TUBB1 | c.980A>G (p.Asp327Gly) c.914A>G (p.Asp305Gly) | |
| 20 | g.59024407A>T | CA409468061 | TUBB1 | c.980A>T (p.Asp327Val) c.914A>T (p.Asp305Val) | |
| 20 | g.59024408C>A | CA409468064 | TUBB1 | c.981C>A (p.Asp327Glu) c.915C>A (p.Asp305Glu) | |
| 20 | g.59024408C= | CA2372582224 | TUBB1 | c.981C= (p.Asp327=) c.915C= (p.Asp305=) | |
| 20 | g.59024408C>G | CA409468065 | TUBB1 | c.981C>G (p.Asp327Glu) c.915C>G (p.Asp305Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024408C>T | CA511316682 | TUBB1 | c.981C>T (p.Asp327=) c.915C>T (p.Asp305=) | |
| 20 | g.59024409C>A | CA409468066 | TUBB1 | c.982C>A (p.Gln328Lys) c.916C>A (p.Gln306Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024409C= | CA2372582225 | TUBB1 | c.982C= (p.Gln328=) c.916C= (p.Gln306=) | |
| 20 | g.59024409C>G | CA409468067 | TUBB1 | c.982C>G (p.Gln328Glu) c.916C>G (p.Gln306Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024409C>T | CA409468068 | TUBB1 | c.982C>T (p.Gln328Ter) c.916C>T (p.Gln306Ter) | |
| 20 | g.59024410A>C | CA409468069 | TUBB1 | c.983A>C (p.Gln328Pro) c.917A>C (p.Gln306Pro) | |
| 20 | g.59024410A>G | CA409468070 | TUBB1 | c.983A>G (p.Gln328Arg) c.917A>G (p.Gln306Arg) | |
| 20 | g.59024410A>T | CA409468071 | TUBB1 | c.983A>T (p.Gln328Leu) c.917A>T (p.Gln306Leu) | |
| 20 | g.59024411G>A | CA511316683 | TUBB1 | c.984G>A (p.Gln328=) c.918G>A (p.Gln306=) | dbSNP gnomAD v4 |
| 20 | g.59024411G>C | CA9928632 | TUBB1 | c.984G>C (p.Gln328His) c.918G>C (p.Gln306His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024411G= | CA2372582226 | TUBB1 | c.984G= (p.Gln328=) c.918G= (p.Gln306=) | |
| 20 | g.59024411G>T | CA409468072 | TUBB1 | c.984G>T (p.Gln328His) c.918G>T (p.Gln306His) | |
| 20 | g.59024412C>A | CA409468073 | TUBB1 | c.985C>A (p.Gln329Lys) c.919C>A (p.Gln307Lys) | |
| 20 | g.59024412C>G | CA409468074 | TUBB1 | c.985C>G (p.Gln329Glu) c.919C>G (p.Gln307Glu) | |
| 20 | g.59024412C>T | CA409468075 | TUBB1 | c.985C>T (p.Gln329Ter) c.919C>T (p.Gln307Ter) | |
| 20 | g.59024413A= | CA2372582227 | TUBB1 | c.986A= (p.Gln329=) c.920A= (p.Gln307=) | |
| 20 | g.59024413A>C | CA409468077 | TUBB1 | c.986A>C (p.Gln329Pro) c.920A>C (p.Gln307Pro) | |
| 20 | g.59024413A>G | CA316329676 | TUBB1 | c.986A>G (p.Gln329Arg) c.920A>G (p.Gln307Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024413A>T | CA409468076 | TUBB1 | c.986A>T (p.Gln329Leu) c.920A>T (p.Gln307Leu) | |
| 20 | g.59024414A>C | CA409468079 | TUBB1 | c.987A>C (p.Gln329His) c.921A>C (p.Gln307His) | |
| 20 | g.59024414A>G | CA511316684 | TUBB1 | c.987A>G (p.Gln329=) c.921A>G (p.Gln307=) | |
| 20 | g.59024414A>T | CA409468078 | TUBB1 | c.987A>T (p.Gln329His) c.921A>T (p.Gln307His) | |
| 20 | g.59024415C>A | CA409468080 | TUBB1 | c.988C>A (p.Leu330Met) c.922C>A (p.Leu308Met) | |
| 20 | g.59024415C= | CA2372582228 | TUBB1 | c.988C= (p.Leu330=) c.922C= (p.Leu308=) | |
| 20 | g.59024415C>G | CA409468081 | TUBB1 | c.988C>G (p.Leu330Val) c.922C>G (p.Leu308Val) | |
| 20 | g.59024415C>T | CA511316685 | TUBB1 | c.988C>T (p.Leu330=) c.922C>T (p.Leu308=) | dbSNP gnomAD v4 |
| 20 | g.59024416T>A | CA409468082 | TUBB1 | c.989T>A (p.Leu330Gln) c.923T>A (p.Leu308Gln) | |
| 20 | g.59024416T>C | CA409468083 | TUBB1 | c.989T>C (p.Leu330Pro) c.923T>C (p.Leu308Pro) | |
| 20 | g.59024416T>G | CA409468084 | TUBB1 | c.989T>G (p.Leu330Arg) c.923T>G (p.Leu308Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024416T= | CA2372582229 | TUBB1 | c.989T= (p.Leu330=) c.923T= (p.Leu308=) | |
| 20 | g.59024417G>A | CA511316717 | TUBB1 | c.990G>A (p.Leu330=) c.924G>A (p.Leu308=) | |
| 20 | g.59024417G>C | CA511316718 | TUBB1 | c.990G>C (p.Leu330=) c.924G>C (p.Leu308=) | |
| 20 | g.59024417G= | CA2372582230 | TUBB1 | c.990G= (p.Leu330=) c.924G= (p.Leu308=) | |
| 20 | g.59024417G>T | CA511316719 | TUBB1 | c.990G>T (p.Leu330=) c.924G>T (p.Leu308=) | dbSNP |
| 20 | g.59024418C>A | CA409468085 | TUBB1 | c.991C>A (p.Leu331Ile) c.925C>A (p.Leu309Ile) | |
| 20 | g.59024418C= | CA2372582231 | TUBB1 | c.991C= (p.Leu331=) c.925C= (p.Leu309=) | |
| 20 | g.59024418C>G | CA409468086 | TUBB1 | c.991C>G (p.Leu331Val) c.925C>G (p.Leu309Val) | |
| 20 | g.59024418C>T | CA9928633 | TUBB1 | c.991C>T (p.Leu331Phe) c.925C>T (p.Leu309Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024419T>A | CA409468087 | TUBB1 | c.992T>A (p.Leu331His) c.926T>A (p.Leu309His) | |
| 20 | g.59024419T>C | CA409468088 | TUBB1 | c.992T>C (p.Leu331Pro) c.926T>C (p.Leu309Pro) | |
| 20 | g.59024419T>G | CA409468089 | TUBB1 | c.992T>G (p.Leu331Arg) c.926T>G (p.Leu309Arg) | |
| 20 | g.59024420C>A | CA511316721 | TUBB1 | c.993C>A (p.Leu331=) c.927C>A (p.Leu309=) | |
| 20 | g.59024420C= | CA2372582232 | TUBB1 | c.993C= (p.Leu331=) c.927C= (p.Leu309=) | |
| 20 | g.59024420C>G | CA9928634 | TUBB1 | c.993C>G (p.Leu331=) c.927C>G (p.Leu309=) | dbSNP ExAC gnomAD v2 |
| 20 | g.59024420C>T | CA511316722 | TUBB1 | c.993C>T (p.Leu331=) c.927C>T (p.Leu309=) | |
| 20 | g.59024421T>A | CA409468091 | TUBB1 | c.994T>A (p.Ser332Thr) c.928T>A (p.Ser310Thr) | |
| 20 | g.59024421T>C | CA409468092 | TUBB1 | c.994T>C (p.Ser332Pro) c.928T>C (p.Ser310Pro) | |
| 20 | g.59024421T>G | CA409468090 | TUBB1 | c.994T>G (p.Ser332Ala) c.928T>G (p.Ser310Ala) | |
| 20 | g.59024422C>A | CA409468093 | TUBB1 | c.995C>A (p.Ser332Tyr) c.929C>A (p.Ser310Tyr) | |
| 20 | g.59024422C>G | CA409468094 | TUBB1 | c.995C>G (p.Ser332Cys) c.929C>G (p.Ser310Cys) | |
| 20 | g.59024422C>T | CA409468095 | TUBB1 | c.995C>T (p.Ser332Phe) c.929C>T (p.Ser310Phe) | |
| 20 | g.59024423C>A | CA511316728 | TUBB1 | c.996C>A (p.Ser332=) c.930C>A (p.Ser310=) | |
| 20 | g.59024423C= | CA2372582233 | TUBB1 | c.996C= (p.Ser332=) c.930C= (p.Ser310=) | |
| 20 | g.59024423C>G | CA511316729 | TUBB1 | c.996C>G (p.Ser332=) c.930C>G (p.Ser310=) | |
| 20 | g.59024423C>T | CA9928635 | TUBB1 | c.996C>T (p.Ser332=) c.930C>T (p.Ser310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.59024424G>A | CA9928636 | TUBB1 | c.997G>A (p.Val333Met) c.931G>A (p.Val311Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024424G>C | CA409468097 | TUBB1 | c.997G>C (p.Val333Leu) c.931G>C (p.Val311Leu) | COSMIC |
| 20 | g.59024424G= | CA2372582234 | TUBB1 | c.997G= (p.Val333=) c.931G= (p.Val311=) | |
| 20 | g.59024424G>T | CA409468096 | TUBB1 | c.997G>T (p.Val333Leu) c.931G>T (p.Val311Leu) | |
| 20 | g.59024425T>A | CA409468098 | TUBB1 | c.998T>A (p.Val333Glu) c.932T>A (p.Val311Glu) | |
| 20 | g.59024425T>C | CA409468099 | TUBB1 | c.998T>C (p.Val333Ala) c.932T>C (p.Val311Ala) | gnomAD v4 |
| 20 | g.59024425T>G | CA316329679 | TUBB1 | c.998T>G (p.Val333Gly) c.932T>G (p.Val311Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024425T= | CA2372582235 | TUBB1 | c.998T= (p.Val333=) c.932T= (p.Val311=) | |
| 20 | g.59024426G>A | CA511316733 | TUBB1 | c.999G>A (p.Val333=) c.933G>A (p.Val311=) | |
| 20 | g.59024426G>C | CA511316734 | TUBB1 | c.999G>C (p.Val333=) c.933G>C (p.Val311=) | |
| 20 | g.59024426G>T | CA511316735 | TUBB1 | c.999G>T (p.Val333=) c.933G>T (p.Val311=) | |
| 20 | g.59024427C>A | CA409468100 | TUBB1 | c.1000C>A (p.Gln334Lys) c.934C>A (p.Gln312Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024427C= | CA2372582236 | TUBB1 | c.1000C= (p.Gln334=) c.934C= (p.Gln312=) | |
| 20 | g.59024427C>G | CA409468101 | TUBB1 | c.1000C>G (p.Gln334Glu) c.934C>G (p.Gln312Glu) | |
| 20 | g.59024427C>T | CA409468102 | TUBB1 | c.1000C>T (p.Gln334Ter) c.934C>T (p.Gln312Ter) | gnomAD v4 |
| 20 | g.59024428A>C | CA409468105 | TUBB1 | c.1001A>C (p.Gln334Pro) c.935A>C (p.Gln312Pro) | |
| 20 | g.59024428A>G | CA409468104 | TUBB1 | c.1001A>G (p.Gln334Arg) c.935A>G (p.Gln312Arg) | |
| 20 | g.59024428A>T | CA409468103 | TUBB1 | c.1001A>T (p.Gln334Leu) c.935A>T (p.Gln312Leu) | |
| 20 | g.59024429G>A | CA511316738 | TUBB1 | c.1002G>A (p.Gln334=) c.936G>A (p.Gln312=) | |
| 20 | g.59024429G>C | CA409468106 | TUBB1 | c.1002G>C (p.Gln334His) c.936G>C (p.Gln312His) | |
| 20 | g.59024429G>T | CA409468107 | TUBB1 | c.1002G>T (p.Gln334His) c.936G>T (p.Gln312His) | |
| 20 | g.59024430A>C | CA409468108 | TUBB1 | c.1003A>C (p.Thr335Pro) c.937A>C (p.Thr313Pro) | |
| 20 | g.59024430A>G | CA409468109 | TUBB1 | c.1003A>G (p.Thr335Ala) c.937A>G (p.Thr313Ala) | |
| 20 | g.59024430A>T | CA409468110 | TUBB1 | c.1003A>T (p.Thr335Ser) c.937A>T (p.Thr313Ser) | |
| 20 | g.59024431C>A | CA409468111 | TUBB1 | c.1004C>A (p.Thr335Asn) c.938C>A (p.Thr313Asn) | gnomAD v4 |
| 20 | g.59024431C>G | CA409468112 | TUBB1 | c.1004C>G (p.Thr335Ser) c.938C>G (p.Thr313Ser) | |
| 20 | g.59024431C>T | CA409468113 | TUBB1 | c.1004C>T (p.Thr335Ile) c.938C>T (p.Thr313Ile) | |
| 20 | g.59024432del | CA2653535376 | TUBB1 | c.1005del (p.Arg336GlyfsTer26) c.939del (p.Arg314GlyfsTer26) | gnomAD v4 |
| 20 | g.59024432C>A | CA511316740 | TUBB1 | c.1005C>A (p.Thr335=) c.939C>A (p.Thr313=) | |
| 20 | g.59024432C>G | CA511316741 | TUBB1 | c.1005C>G (p.Thr335=) c.939C>G (p.Thr313=) | |
| 20 | g.59024432C>T | CA511316742 | TUBB1 | c.1005C>T (p.Thr335=) c.939C>T (p.Thr313=) | gnomAD v4 |
| 20 | g.59024433A>C | CA511316743 | TUBB1 | c.1006A>C (p.Arg336=) c.940A>C (p.Arg314=) | |
| 20 | g.59024433A>G | CA409468114 | TUBB1 | c.1006A>G (p.Arg336Gly) c.940A>G (p.Arg314Gly) | |
| 20 | g.59024433A>T | CA409468115 | TUBB1 | c.1006A>T (p.Arg336Trp) c.940A>T (p.Arg314Trp) | |
| 20 | g.59024433_59024434delinsAG | CA2372582237 | TUBB1 | c.1006_1007delinsAG (p.Arg336=) c.940_941delinsAG (p.Arg314=) | |
| 20 | g.59024434G>A | CA409468116 | TUBB1 | c.1007G>A (p.Arg336Lys) c.941G>A (p.Arg314Lys) | |
| 20 | g.59024434G>C | CA409468117 | TUBB1 | c.1007G>C (p.Arg336Thr) c.941G>C (p.Arg314Thr) | dbSNP gnomAD v4 |
| 20 | g.59024434G= | CA2372582238 | TUBB1 | c.1007G= (p.Arg336=) c.941G= (p.Arg314=) | |
| 20 | g.59024434G>T | CA409468118 | TUBB1 | c.1007G>T (p.Arg336Met) c.941G>T (p.Arg314Met) | |
| 20 | g.59024435del | CA9928637 | TUBB1 | c.1008del (p.Asn337ThrfsTer25) c.942del (p.Asn315ThrfsTer25) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.59024435G>A | CA511316746 | TUBB1 | c.1008G>A (p.Arg336=) c.942G>A (p.Arg314=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.59024435G>C | CA409468120 | TUBB1 | c.1008G>C (p.Arg336Ser) c.942G>C (p.Arg314Ser) | |
| 20 | g.59024435G= | CA2372582239 | TUBB1 | c.1008G= (p.Arg336=) c.942G= (p.Arg314=) | |
| 20 | g.59024435G>T | CA409468119 | TUBB1 | c.1008G>T (p.Arg336Ser) c.942G>T (p.Arg314Ser) | ClinVar gnomAD v4 |
| 20 | g.59024436A>C | CA409468121 | TUBB1 | c.1009A>C (p.Asn337His) c.943A>C (p.Asn315His) | |
| 20 | g.59024436A>G | CA409468122 | TUBB1 | c.1009A>G (p.Asn337Asp) c.943A>G (p.Asn315Asp) | |
| 20 | g.59024436A>T | CA409468123 | TUBB1 | c.1009A>T (p.Asn337Tyr) c.943A>T (p.Asn315Tyr) | |
| 20 | g.59024437A>C | CA409468124 | TUBB1 | c.1010A>C (p.Asn337Thr) c.944A>C (p.Asn315Thr) | |
| 20 | g.59024437A>G | CA409468125 | TUBB1 | c.1010A>G (p.Asn337Ser) c.944A>G (p.Asn315Ser) | |
| 20 | g.59024437A>T | CA409468126 | TUBB1 | c.1010A>T (p.Asn337Ile) c.944A>T (p.Asn315Ile) | |
| 20 | g.59024438C>A | CA409468127 | TUBB1 | c.1011C>A (p.Asn337Lys) c.945C>A (p.Asn315Lys) | |
| 20 | g.59024438C>G | CA409468128 | TUBB1 | c.1011C>G (p.Asn337Lys) c.945C>G (p.Asn315Lys) | |
| 20 | g.59024438C>T | CA511316748 | TUBB1 | c.1011C>T (p.Asn337=) c.945C>T (p.Asn315=) | |
| 20 | g.59024439A= | CA2372582240 | TUBB1 | c.1012A= (p.Ser338=) c.946A= (p.Ser316=) | |
| 20 | g.59024439A>C | CA409468129 | TUBB1 | c.1012A>C (p.Ser338Arg) c.946A>C (p.Ser316Arg) | |
| 20 | g.59024439A>G | CA316329681 | TUBB1 | c.1012A>G (p.Ser338Gly) c.946A>G (p.Ser316Gly) | dbSNP gnomAD v4 |
| 20 | g.59024439A>T | CA409468130 | TUBB1 | c.1012A>T (p.Ser338Cys) c.946A>T (p.Ser316Cys) | |
| 20 | g.59024440G>A | CA409468131 | TUBB1 | c.1013G>A (p.Ser338Asn) c.947G>A (p.Ser316Asn) | |
| 20 | g.59024440G>C | CA409468132 | TUBB1 | c.1013G>C (p.Ser338Thr) c.947G>C (p.Ser316Thr) | |
| 20 | g.59024440G>T | CA409468133 | TUBB1 | c.1013G>T (p.Ser338Ile) c.947G>T (p.Ser316Ile) | |
| 20 | g.59024441C>A | CA409468135 | TUBB1 | c.1014C>A (p.Ser338Arg) c.948C>A (p.Ser316Arg) | COSMIC |
| 20 | g.59024441C>G | CA409468134 | TUBB1 | c.1014C>G (p.Ser338Arg) c.948C>G (p.Ser316Arg) | |
| 20 | g.59024441C>T | CA511316750 | TUBB1 | c.1014C>T (p.Ser338=) c.948C>T (p.Ser316=) | |
| 20 | g.59024442A>C | CA409468136 | TUBB1 | c.1015A>C (p.Ser339Arg) c.949A>C (p.Ser317Arg) | |
| 20 | g.59024442A>G | CA409468138 | TUBB1 | c.1015A>G (p.Ser339Gly) c.949A>G (p.Ser317Gly) | |
| 20 | g.59024442A>T | CA409468137 | TUBB1 | c.1015A>T (p.Ser339Cys) c.949A>T (p.Ser317Cys) | |
| 20 | g.59024442_59024443delinsAG | CA2372582241 | TUBB1 | c.1015_1016delinsAG (p.Ser339=) c.949_950delinsAG (p.Ser317=) | |
| 20 | g.59024443del | CA636607946 | TUBB1 | c.1016del (p.Ser339ThrfsTer23) c.950del (p.Ser317ThrfsTer23) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024443G>A | CA409468139 | TUBB1 | c.1016G>A (p.Ser339Asn) c.950G>A (p.Ser317Asn) | |
| 20 | g.59024443G>C | CA409468141 | TUBB1 | c.1016G>C (p.Ser339Thr) c.950G>C (p.Ser317Thr) | |
| 20 | g.59024443G>T | CA409468140 | TUBB1 | c.1016G>T (p.Ser339Ile) c.950G>T (p.Ser317Ile) | |
| 20 | g.59024444C>A | CA409468142 | TUBB1 | c.1017C>A (p.Ser339Arg) c.951C>A (p.Ser317Arg) | |
| 20 | g.59024444C>G | CA409468143 | TUBB1 | c.1017C>G (p.Ser339Arg) c.951C>G (p.Ser317Arg) | |
| 20 | g.59024444C>T | CA511316752 | TUBB1 | c.1017C>T (p.Ser339=) c.951C>T (p.Ser317=) | gnomAD v4 |
| 20 | g.59024445T>A | CA409468144 | TUBB1 | c.1018T>A (p.Cys340Ser) c.952T>A (p.Cys318Ser) | |
| 20 | g.59024445T>C | CA409468145 | TUBB1 | c.1018T>C (p.Cys340Arg) c.952T>C (p.Cys318Arg) | |
| 20 | g.59024445T>G | CA409468146 | TUBB1 | c.1018T>G (p.Cys340Gly) c.952T>G (p.Cys318Gly) | |
| 20 | g.59024446G>A | CA409468147 | TUBB1 | c.1019G>A (p.Cys340Tyr) c.953G>A (p.Cys318Tyr) | |
| 20 | g.59024446G>C | CA409468148 | TUBB1 | c.1019G>C (p.Cys340Ser) c.953G>C (p.Cys318Ser) | |
| 20 | g.59024446G>T | CA409468149 | TUBB1 | c.1019G>T (p.Cys340Phe) c.953G>T (p.Cys318Phe) | |
| 20 | g.59024447C>A | CA409468150 | TUBB1 | c.1020C>A (p.Cys340Ter) c.954C>A (p.Cys318Ter) | |
| 20 | g.59024447C= | CA2372582242 | TUBB1 | c.1020C= (p.Cys340=) c.954C= (p.Cys318=) | |
| 20 | g.59024447C>G | CA409468151 | TUBB1 | c.1020C>G (p.Cys340Trp) c.954C>G (p.Cys318Trp) | |
| 20 | g.59024447C>T | CA511316754 | TUBB1 | c.1020C>T (p.Cys340=) c.954C>T (p.Cys318=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024448T>A | CA409468152 | TUBB1 | c.1021T>A (p.Phe341Ile) c.955T>A (p.Phe319Ile) | |
| 20 | g.59024448T>C | CA409468153 | TUBB1 | c.1021T>C (p.Phe341Leu) c.955T>C (p.Phe319Leu) | |
| 20 | g.59024448T>G | CA409468154 | TUBB1 | c.1021T>G (p.Phe341Val) c.955T>G (p.Phe319Val) | |
| 20 | g.59024449T>A | CA409468156 | TUBB1 | c.1022T>A (p.Phe341Tyr) c.956T>A (p.Phe319Tyr) | |
| 20 | g.59024449T>C | CA9928638 | TUBB1 | c.1022T>C (p.Phe341Ser) c.956T>C (p.Phe319Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024449T>G | CA409468155 | TUBB1 | c.1022T>G (p.Phe341Cys) c.956T>G (p.Phe319Cys) | |
| 20 | g.59024449T= | CA2372582243 | TUBB1 | c.1022T= (p.Phe341=) c.956T= (p.Phe319=) | |
| 20 | g.59024450T>A | CA409468157 | TUBB1 | c.1023T>A (p.Phe341Leu) c.957T>A (p.Phe319Leu) | |
| 20 | g.59024450T>C | CA511316758 | TUBB1 | c.1023T>C (p.Phe341=) c.957T>C (p.Phe319=) | gnomAD v4 |
| 20 | g.59024450T>G | CA409468158 | TUBB1 | c.1023T>G (p.Phe341Leu) c.957T>G (p.Phe319Leu) | |
| 20 | g.59024451G>A | CA316329683 | TUBB1 | c.1024G>A (p.Val342Met) c.958G>A (p.Val320Met) | dbSNP gnomAD v4 |
| 20 | g.59024451G>C | CA409468159 | TUBB1 | c.1024G>C (p.Val342Leu) c.958G>C (p.Val320Leu) | |
| 20 | g.59024451G= | CA2372582244 | TUBB1 | c.1024G= (p.Val342=) c.958G= (p.Val320=) | |
| 20 | g.59024451G>T | CA409468160 | TUBB1 | c.1024G>T (p.Val342Leu) c.958G>T (p.Val320Leu) | |
| 20 | g.59024456_59024460del | CA2577437671 | TUBB1 | c.1029_1033del (p.Glu343AspfsTer?) c.963_967del (p.Glu321AspfsTer?) | gnomAD v4 |
| 20 | g.59024452T>A | CA409468161 | TUBB1 | c.1025T>A (p.Val342Glu) c.959T>A (p.Val320Glu) | gnomAD v4 |
| 20 | g.59024452T>C | CA409468162 | TUBB1 | c.1025T>C (p.Val342Ala) c.959T>C (p.Val320Ala) | dbSNP |
| 20 | g.59024452T>G | CA9928639 | TUBB1 | c.1025T>G (p.Val342Gly) c.959T>G (p.Val320Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.59024452T= | CA2372582245 | TUBB1 | c.1025T= (p.Val342=) c.959T= (p.Val320=) | |
| 20 | g.59024453G>A | CA511316760 | TUBB1 | c.1026G>A (p.Val342=) c.960G>A (p.Val320=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024453G>C | CA511316761 | TUBB1 | c.1026G>C (p.Val342=) c.960G>C (p.Val320=) | |
| 20 | g.59024453G= | CA2372582246 | TUBB1 | c.1026G= (p.Val342=) c.960G= (p.Val320=) | |
| 20 | g.59024453G>T | CA511316762 | TUBB1 | c.1026G>T (p.Val342=) c.960G>T (p.Val320=) | |
| 20 | g.59024454G>A | CA409468163 | TUBB1 | c.1027G>A (p.Glu343Lys) c.961G>A (p.Glu321Lys) | |
| 20 | g.59024454G>C | CA409468164 | TUBB1 | c.1027G>C (p.Glu343Gln) c.961G>C (p.Glu321Gln) | |
| 20 | g.59024454G>T | CA409468165 | TUBB1 | c.1027G>T (p.Glu343Ter) c.961G>T (p.Glu321Ter) | |
| 20 | g.59024455A= | CA2372582247 | TUBB1 | c.1028A= (p.Glu343=) c.962A= (p.Glu321=) | |
| 20 | g.59024455A>C | CA409468168 | TUBB1 | c.1028A>C (p.Glu343Ala) c.962A>C (p.Glu321Ala) | |
| 20 | g.59024455A>G | CA409468167 | TUBB1 | c.1028A>G (p.Glu343Gly) c.962A>G (p.Glu321Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024455A>T | CA409468166 | TUBB1 | c.1028A>T (p.Glu343Val) c.962A>T (p.Glu321Val) | |
| 20 | g.59024456G>A | CA9928640 | TUBB1 | c.1029G>A (p.Glu343=) c.963G>A (p.Glu321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024456G>C | CA409468169 | TUBB1 | c.1029G>C (p.Glu343Asp) c.963G>C (p.Glu321Asp) | dbSNP gnomAD v4 |
| 20 | g.59024456G= | CA2372582248 | TUBB1 | c.1029G= (p.Glu343=) c.963G= (p.Glu321=) | |
| 20 | g.59024456G>T | CA409468170 | TUBB1 | c.1029G>T (p.Glu343Asp) c.963G>T (p.Glu321Asp) | |
| 20 | g.59024457T>A | CA409468171 | TUBB1 | c.1030T>A (p.Trp344Arg) c.964T>A (p.Trp322Arg) | |
| 20 | g.59024457T>C | CA409468172 | TUBB1 | c.1030T>C (p.Trp344Arg) c.964T>C (p.Trp322Arg) | |
| 20 | g.59024457T>G | CA409468173 | TUBB1 | c.1030T>G (p.Trp344Gly) c.964T>G (p.Trp322Gly) | |
| 20 | g.59024458G>A | CA409468174 | TUBB1 | c.1031G>A (p.Trp344Ter) c.965G>A (p.Trp322Ter) | gnomAD v4 |
| 20 | g.59024458G>C | CA409468175 | TUBB1 | c.1031G>C (p.Trp344Ser) c.965G>C (p.Trp322Ser) | |
| 20 | g.59024458G>T | CA409468176 | TUBB1 | c.1031G>T (p.Trp344Leu) c.965G>T (p.Trp322Leu) | |
| 20 | g.59024459G>A | CA316329703 | TUBB1 | c.1032G>A (p.Trp344Ter) c.966G>A (p.Trp322Ter) | dbSNP |
| 20 | g.59024459G>C | CA409468177 | TUBB1 | c.1032G>C (p.Trp344Cys) c.966G>C (p.Trp322Cys) | |
| 20 | g.59024459G= | CA2372582249 | TUBB1 | c.1032G= (p.Trp344=) c.966G= (p.Trp322=) | |
| 20 | g.59024459G>T | CA409468178 | TUBB1 | c.1032G>T (p.Trp344Cys) c.966G>T (p.Trp322Cys) | |
| 20 | g.59024460A>C | CA409468181 | TUBB1 | c.1033A>C (p.Ile345Leu) c.967A>C (p.Ile323Leu) | |
| 20 | g.59024460A>G | CA409468179 | TUBB1 | c.1033A>G (p.Ile345Val) c.967A>G (p.Ile323Val) | |
| 20 | g.59024460A>T | CA409468180 | TUBB1 | c.1033A>T (p.Ile345Phe) c.967A>T (p.Ile323Phe) | |
| 20 | g.59024461T>A | CA409468182 | TUBB1 | c.1034T>A (p.Ile345Asn) c.968T>A (p.Ile323Asn) | |
| 20 | g.59024461T>C | CA409468183 | TUBB1 | c.1034T>C (p.Ile345Thr) c.968T>C (p.Ile323Thr) | |
| 20 | g.59024461T>G | CA409468184 | TUBB1 | c.1034T>G (p.Ile345Ser) c.968T>G (p.Ile323Ser) | |
| 20 | g.59024462T>A | CA511316773 | TUBB1 | c.1035T>A (p.Ile345=) c.969T>A (p.Ile323=) | |
| 20 | g.59024462T>C | CA511316774 | TUBB1 | c.1035T>C (p.Ile345=) c.969T>C (p.Ile323=) | |
| 20 | g.59024462T>G | CA409468185 | TUBB1 | c.1035T>G (p.Ile345Met) c.969T>G (p.Ile323Met) | |
| 20 | g.59024463C>A | CA409468186 | TUBB1 | c.1036C>A (p.Pro346Thr) c.970C>A (p.Pro324Thr) | |
| 20 | g.59024463C= | CA2372582250 | TUBB1 | c.1036C= (p.Pro346=) c.970C= (p.Pro324=) | |
| 20 | g.59024463C>G | CA409468187 | TUBB1 | c.1036C>G (p.Pro346Ala) c.970C>G (p.Pro324Ala) | |
| 20 | g.59024463C>T | CA9928641 | TUBB1 | c.1036C>T (p.Pro346Ser) c.970C>T (p.Pro324Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.59024464C>A | CA409468188 | TUBB1 | c.1037C>A (p.Pro346His) c.971C>A (p.Pro324His) | |
| 20 | g.59024464C>G | CA409468189 | TUBB1 | c.1037C>G (p.Pro346Arg) c.971C>G (p.Pro324Arg) | gnomAD v4 |
| 20 | g.59024464C>T | CA409468190 | TUBB1 | c.1037C>T (p.Pro346Leu) c.971C>T (p.Pro324Leu) | |
| 20 | g.59024464_59024467delinsCCAA | CA2372582251 | TUBB1 | c.1037_1040delinsCCAA (p.Pro346=) c.971_974delinsCCAA (p.Pro324=) | |
| 20 | g.59024465C>A | CA511316776 | TUBB1 | c.1038C>A (p.Pro346=) c.972C>A (p.Pro324=) | |
| 20 | g.59024465C>G | CA511316777 | TUBB1 | c.1038C>G (p.Pro346=) c.972C>G (p.Pro324=) | |
| 20 | g.59024465C>T | CA511316779 | TUBB1 | c.1038C>T (p.Pro346=) c.972C>T (p.Pro324=) | gnomAD v4 |
| 20 | g.59024469_59024471del | CA9928642 | TUBB1 | c.1042_1044del (p.Asn348del) c.976_978del (p.Asn326del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024466A>C | CA409468192 | TUBB1 | c.1039A>C (p.Asn347His) c.973A>C (p.Asn325His) | |
| 20 | g.59024466A>G | CA409468193 | TUBB1 | c.1039A>G (p.Asn347Asp) c.973A>G (p.Asn325Asp) | |
| 20 | g.59024466A>T | CA409468191 | TUBB1 | c.1039A>T (p.Asn347Tyr) c.973A>T (p.Asn325Tyr) | |
| 20 | g.59024467A>C | CA409468196 | TUBB1 | c.1040A>C (p.Asn347Thr) c.974A>C (p.Asn325Thr) | |
| 20 | g.59024467A>G | CA409468194 | TUBB1 | c.1040A>G (p.Asn347Ser) c.974A>G (p.Asn325Ser) | |
| 20 | g.59024467A>T | CA409468195 | TUBB1 | c.1040A>T (p.Asn347Ile) c.974A>T (p.Asn325Ile) | gnomAD v4 |
| 20 | g.59024468C>A | CA409468197 | TUBB1 | c.1041C>A (p.Asn347Lys) c.975C>A (p.Asn325Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024468C= | CA2372582252 | TUBB1 | c.1041C= (p.Asn347=) c.975C= (p.Asn325=) | |
| 20 | g.59024468C>G | CA409468198 | TUBB1 | c.1041C>G (p.Asn347Lys) c.975C>G (p.Asn325Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.59024468C>T | CA511316780 | TUBB1 | c.1041C>T (p.Asn347=) c.975C>T (p.Asn325=) | |
| 20 | g.59024469A>C | CA409468199 | TUBB1 | c.1042A>C (p.Asn348His) c.976A>C (p.Asn326His) | |
| 20 | g.59024469A>G | CA409468200 | TUBB1 | c.1042A>G (p.Asn348Asp) c.976A>G (p.Asn326Asp) | dbSNP gnomAD v3 |
| 20 | g.59024469A>T | CA409468201 | TUBB1 | c.1042A>T (p.Asn348Tyr) c.976A>T (p.Asn326Tyr) | |
| 20 | g.59024470A>C | CA409468202 | TUBB1 | c.1043A>C (p.Asn348Thr) c.977A>C (p.Asn326Thr) | |
| 20 | g.59024470A>G | CA409468203 | TUBB1 | c.1043A>G (p.Asn348Ser) c.977A>G (p.Asn326Ser) | |
| 20 | g.59024470A>T | CA409468204 | TUBB1 | c.1043A>T (p.Asn348Ile) c.977A>T (p.Asn326Ile) | |
| 20 | g.59024471C>A | CA409468205 | TUBB1 | c.1044C>A (p.Asn348Lys) c.978C>A (p.Asn326Lys) | ClinVar dbSNP |
| 20 | g.59024471C= | CA2372582253 | TUBB1 | c.1044C= (p.Asn348=) c.978C= (p.Asn326=) | |
| 20 | g.59024471C>G | CA409468206 | TUBB1 | c.1044C>G (p.Asn348Lys) c.978C>G (p.Asn326Lys) | dbSNP gnomAD v4 |
| 20 | g.59024471C>T | CA9928643 | TUBB1 | c.1044C>T (p.Asn348=) c.978C>T (p.Asn326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024472G>A | CA9928644 | TUBB1 | c.1045G>A (p.Val349Ile) c.979G>A (p.Val327Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024472G>C | CA409468208 | TUBB1 | c.1045G>C (p.Val349Leu) c.979G>C (p.Val327Leu) | |
| 20 | g.59024472G= | CA2372582254 | TUBB1 | c.1045G= (p.Val349=) c.979G= (p.Val327=) | |
| 20 | g.59024472G>T | CA409468207 | TUBB1 | c.1045G>T (p.Val349Phe) c.979G>T (p.Val327Phe) | |
| 20 | g.59024473T>A | CA409468209 | TUBB1 | c.1046T>A (p.Val349Asp) c.980T>A (p.Val327Asp) | |
| 20 | g.59024473T>C | CA409468210 | TUBB1 | c.1046T>C (p.Val349Ala) c.980T>C (p.Val327Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.59024473T>G | CA409468211 | TUBB1 | c.1046T>G (p.Val349Gly) c.980T>G (p.Val327Gly) | |
| 20 | g.59024473T= | CA2372582255 | TUBB1 | c.1046T= (p.Val349=) c.980T= (p.Val327=) | |
| 20 | g.59024474C>A | CA511316783 | TUBB1 | c.1047C>A (p.Val349=) c.981C>A (p.Val327=) | |
| 20 | g.59024474C>G | CA511316784 | TUBB1 | c.1047C>G (p.Val349=) c.981C>G (p.Val327=) | |
| 20 | g.59024474C>T | CA511316785 | TUBB1 | c.1047C>T (p.Val349=) c.981C>T (p.Val327=) | |
| 20 | g.59024475A>C | CA409468212 | TUBB1 | c.1048A>C (p.Lys350Gln) c.982A>C (p.Lys328Gln) | |
| 20 | g.59024475A>G | CA409468213 | TUBB1 | c.1048A>G (p.Lys350Glu) c.982A>G (p.Lys328Glu) | |
| 20 | g.59024475A>T | CA409468214 | TUBB1 | c.1048A>T (p.Lys350Ter) c.982A>T (p.Lys328Ter) | |
| 20 | g.59024476A>C | CA409468215 | TUBB1 | c.1049A>C (p.Lys350Thr) c.983A>C (p.Lys328Thr) | |
| 20 | g.59024476A>G | CA409468216 | TUBB1 | c.1049A>G (p.Lys350Arg) c.983A>G (p.Lys328Arg) | |
| 20 | g.59024476A>T | CA409468217 | TUBB1 | c.1049A>T (p.Lys350Met) c.983A>T (p.Lys328Met) | |
| 20 | g.59024477G>A | CA511316789 | TUBB1 | c.1050G>A (p.Lys350=) c.984G>A (p.Lys328=) | |
| 20 | g.59024477G>C | CA409468218 | TUBB1 | c.1050G>C (p.Lys350Asn) c.984G>C (p.Lys328Asn) | gnomAD v4 |
| 20 | g.59024477G>T | CA409468219 | TUBB1 | c.1050G>T (p.Lys350Asn) c.984G>T (p.Lys328Asn) | gnomAD v4 |
| 20 | g.59024478G>A | CA409468221 | TUBB1 | c.1051G>A (p.Val351Met) c.985G>A (p.Val329Met) | dbSNP |
| 20 | g.59024478G>C | CA409468222 | TUBB1 | c.1051G>C (p.Val351Leu) c.985G>C (p.Val329Leu) | |
| 20 | g.59024478G= | CA2372582256 | TUBB1 | c.1051G= (p.Val351=) c.985G= (p.Val329=) | |
| 20 | g.59024478G>T | CA409468220 | TUBB1 | c.1051G>T (p.Val351Leu) c.985G>T (p.Val329Leu) | |
| 20 | g.59024479T>A | CA409468223 | TUBB1 | c.1052T>A (p.Val351Glu) c.986T>A (p.Val329Glu) | |
| 20 | g.59024479T>C | CA409468224 | TUBB1 | c.1052T>C (p.Val351Ala) c.986T>C (p.Val329Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.59024479T>G | CA409468225 | TUBB1 | c.1052T>G (p.Val351Gly) c.986T>G (p.Val329Gly) | |
| 20 | g.59024479T= | CA2372582257 | TUBB1 | c.1052T= (p.Val351=) c.986T= (p.Val329=) | |
| 20 | g.59024480G>A | CA511316791 | TUBB1 | c.1053G>A (p.Val351=) c.987G>A (p.Val329=) | |
| 20 | g.59024480G>C | CA511316793 | TUBB1 | c.1053G>C (p.Val351=) c.987G>C (p.Val329=) | |
| 20 | g.59024480G>T | CA511316794 | TUBB1 | c.1053G>T (p.Val351=) c.987G>T (p.Val329=) | gnomAD v4 |
| 20 | g.59024481G>A | CA409468226 | TUBB1 | c.1054G>A (p.Ala352Thr) c.988G>A (p.Ala330Thr) | dbSNP |
| 20 | g.59024481G>C | CA409468227 | TUBB1 | c.1054G>C (p.Ala352Pro) c.988G>C (p.Ala330Pro) | |
| 20 | g.59024481G= | CA2372582258 | TUBB1 | c.1054G= (p.Ala352=) c.988G= (p.Ala330=) | |
| 20 | g.59024481G>T | CA409468228 | TUBB1 | c.1054G>T (p.Ala352Ser) c.988G>T (p.Ala330Ser) | gnomAD v4 |
| 20 | g.59024482C>A | CA409468229 | TUBB1 | c.1055C>A (p.Ala352Asp) c.989C>A (p.Ala330Asp) | |
| 20 | g.59024482C>G | CA409468230 | TUBB1 | c.1055C>G (p.Ala352Gly) c.989C>G (p.Ala330Gly) | |
| 20 | g.59024482C>T | CA409468231 | TUBB1 | c.1055C>T (p.Ala352Val) c.989C>T (p.Ala330Val) | |
| 20 | g.59024483T>A | CA511316795 | TUBB1 | c.1056T>A (p.Ala352=) c.990T>A (p.Ala330=) | |
| 20 | g.59024483T>C | CA511316796 | TUBB1 | c.1056T>C (p.Ala352=) c.990T>C (p.Ala330=) | dbSNP |
| 20 | g.59024483T>G | CA511316797 | TUBB1 | c.1056T>G (p.Ala352=) c.990T>G (p.Ala330=) | |
| 20 | g.59024484G>A | CA409468232 | TUBB1 | c.1057G>A (p.Val353Ile) c.991G>A (p.Val331Ile) | |
| 20 | g.59024484G>C | CA409468233 | TUBB1 | c.1057G>C (p.Val353Leu) c.991G>C (p.Val331Leu) | |
| 20 | g.59024484G>T | CA409468234 | TUBB1 | c.1057G>T (p.Val353Phe) c.991G>T (p.Val331Phe) | |
| 20 | g.59024485T>A | CA409468236 | TUBB1 | c.1058T>A (p.Val353Asp) c.992T>A (p.Val331Asp) | |
| 20 | g.59024485T>C | CA409468237 | TUBB1 | c.1058T>C (p.Val353Ala) c.992T>C (p.Val331Ala) | |
| 20 | g.59024485T>G | CA409468235 | TUBB1 | c.1058T>G (p.Val353Gly) c.992T>G (p.Val331Gly) | |
| 20 | g.59024486C>A | CA511316800 | TUBB1 | c.1059C>A (p.Val353=) c.993C>A (p.Val331=) | |
| 20 | g.59024486C>G | CA511316801 | TUBB1 | c.1059C>G (p.Val353=) c.993C>G (p.Val331=) | |
| 20 | g.59024486C>T | CA511316799 | TUBB1 | c.1059C>T (p.Val353=) c.993C>T (p.Val331=) | |
| 20 | g.59024487T>A | CA409468238 | TUBB1 | c.1060T>A (p.Cys354Ser) c.994T>A (p.Cys332Ser) | |
| 20 | g.59024487T>C | CA409468239 | TUBB1 | c.1060T>C (p.Cys354Arg) c.994T>C (p.Cys332Arg) | ClinVar dbSNP |
| 20 | g.59024487T>G | CA409468240 | TUBB1 | c.1060T>G (p.Cys354Gly) c.994T>G (p.Cys332Gly) |