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 |
|---|---|---|---|---|---|
| 16 | g.89935334del | CA2635070896 | TUBB3 | c.883del (p.Asp295MetfsTer5) n.4304del c.667del (p.Asp223MetfsTer5) c.277+1756del (n.277+1756del) c.*968del (n.*968del) c.1924del (p.Asp642MetfsTer5) | gnomAD v4 |
| 16 | g.89935334G>A | CA8256177 | TUBB3 | c.883G>A (p.Asp295Asn) n.4304G>A c.667G>A (p.Asp223Asn) c.277+1756G>A (n.277+1756G>A) c.*968G>A (n.*968G>A) c.1924G>A (p.Asp642Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935334G>C | CA397475733 | TUBB3 | c.883G>C (p.Asp295His) n.4304G>C c.667G>C (p.Asp223His) c.277+1756G>C (n.277+1756G>C) c.*968G>C (n.*968G>C) c.1924G>C (p.Asp642His) | |
| 16 | g.89935334G= | CA2242020253 | TUBB3 | c.883G= (p.Asp295=) n.4304G= c.667G= (p.Asp223=) c.277+1756G= (n.277+1756G=) c.*968G= (n.*968G=) c.1924G= (p.Asp642=) | |
| 16 | g.89935334G>T | CA397475732 | TUBB3 | c.883G>T (p.Asp295Tyr) n.4304G>T c.667G>T (p.Asp223Tyr) c.277+1756G>T (n.277+1756G>T) c.*968G>T (n.*968G>T) c.1924G>T (p.Asp642Tyr) | |
| 16 | g.89935335A>C | CA397475735 | TUBB3 | c.884A>C (p.Asp295Ala) n.4305A>C c.668A>C (p.Asp223Ala) c.277+1757A>C (n.277+1757A>C) c.*969A>C (n.*969A>C) c.1925A>C (p.Asp642Ala) | |
| 16 | g.89935335A>G | CA397475738 | TUBB3 | c.884A>G (p.Asp295Gly) n.4305A>G c.668A>G (p.Asp223Gly) c.277+1757A>G (n.277+1757A>G) c.*969A>G (n.*969A>G) c.1925A>G (p.Asp642Gly) | |
| 16 | g.89935335A>T | CA397475737 | TUBB3 | c.884A>T (p.Asp295Val) n.4305A>T c.668A>T (p.Asp223Val) c.277+1757A>T (n.277+1757A>T) c.*969A>T (n.*969A>T) c.1925A>T (p.Asp642Val) | |
| 16 | g.89935336T>A | CA397475739 | TUBB3 | c.885T>A (p.Asp295Glu) n.4306T>A c.669T>A (p.Asp223Glu) c.277+1758T>A (n.277+1758T>A) c.*970T>A (n.*970T>A) c.1926T>A (p.Asp642Glu) | |
| 16 | g.89935336T>C | CA497381419 | TUBB3 | c.885T>C (p.Asp295=) n.4306T>C c.669T>C (p.Asp223=) c.277+1758T>C (n.277+1758T>C) c.*970T>C (n.*970T>C) c.1926T>C (p.Asp642=) | dbSNP |
| 16 | g.89935336T>G | CA397475740 | TUBB3 | c.885T>G (p.Asp295Glu) n.4306T>G c.669T>G (p.Asp223Glu) c.277+1758T>G (n.277+1758T>G) c.*970T>G (n.*970T>G) c.1926T>G (p.Asp642Glu) | |
| 16 | g.89935336T= | CA2242020256 | TUBB3 | c.885T= (p.Asp295=) n.4306T= c.669T= (p.Asp223=) c.277+1758T= (n.277+1758T=) c.*970T= (n.*970T=) c.1926T= (p.Asp642=) | |
| 16 | g.89935337G>A | CA397475741 | TUBB3 | c.886G>A (p.Ala296Thr) n.4307G>A c.670G>A (p.Ala224Thr) c.277+1759G>A (n.277+1759G>A) c.*971G>A (n.*971G>A) c.1927G>A (p.Ala643Thr) | |
| 16 | g.89935337G>C | CA397475742 | TUBB3 | c.886G>C (p.Ala296Pro) n.4307G>C c.670G>C (p.Ala224Pro) c.277+1759G>C (n.277+1759G>C) c.*971G>C (n.*971G>C) c.1927G>C (p.Ala643Pro) | |
| 16 | g.89935337G= | CA2242020260 | TUBB3 | c.886G= (p.Ala296=) n.4307G= c.670G= (p.Ala224=) c.277+1759G= (n.277+1759G=) c.*971G= (n.*971G=) c.1927G= (p.Ala643=) | |
| 16 | g.89935337G>T | CA397475744 | TUBB3 | c.886G>T (p.Ala296Ser) n.4307G>T c.670G>T (p.Ala224Ser) c.277+1759G>T (n.277+1759G>T) c.*971G>T (n.*971G>T) c.1927G>T (p.Ala643Ser) | dbSNP |
| 16 | g.89935338C>A | CA397475745 | TUBB3 | c.887C>A (p.Ala296Asp) n.4308C>A c.671C>A (p.Ala224Asp) c.277+1760C>A (n.277+1760C>A) c.*972C>A (n.*972C>A) c.1928C>A (p.Ala643Asp) | |
| 16 | g.89935338C>G | CA397475753 | TUBB3 | c.887C>G (p.Ala296Gly) n.4308C>G c.671C>G (p.Ala224Gly) c.277+1760C>G (n.277+1760C>G) c.*972C>G (n.*972C>G) c.1928C>G (p.Ala643Gly) | gnomAD v4 |
| 16 | g.89935338C>T | CA397475754 | TUBB3 | c.887C>T (p.Ala296Val) n.4308C>T c.671C>T (p.Ala224Val) c.277+1760C>T (n.277+1760C>T) c.*972C>T (n.*972C>T) c.1928C>T (p.Ala643Val) | |
| 16 | g.89935339C>A | CA497381420 | TUBB3 | c.888C>A (p.Ala296=) n.4309C>A c.672C>A (p.Ala224=) c.277+1761C>A (n.277+1761C>A) c.*973C>A (n.*973C>A) c.1929C>A (p.Ala643=) | |
| 16 | g.89935339C>G | CA497381421 | TUBB3 | c.888C>G (p.Ala296=) n.4309C>G c.672C>G (p.Ala224=) c.277+1761C>G (n.277+1761C>G) c.*973C>G (n.*973C>G) c.1929C>G (p.Ala643=) | |
| 16 | g.89935339C>T | CA497381423 | TUBB3 | c.888C>T (p.Ala296=) n.4309C>T c.672C>T (p.Ala224=) c.277+1761C>T (n.277+1761C>T) c.*973C>T (n.*973C>T) c.1929C>T (p.Ala643=) | |
| 16 | g.89935340A>C | CA397475756 | TUBB3 | c.889A>C (p.Lys297Gln) n.4310A>C c.673A>C (p.Lys225Gln) c.277+1762A>C (n.277+1762A>C) c.*974A>C (n.*974A>C) c.1930A>C (p.Lys644Gln) | |
| 16 | g.89935340A>G | CA397475758 | TUBB3 | c.889A>G (p.Lys297Glu) n.4310A>G c.673A>G (p.Lys225Glu) c.277+1762A>G (n.277+1762A>G) c.*974A>G (n.*974A>G) c.1930A>G (p.Lys644Glu) | |
| 16 | g.89935340A>T | CA397475759 | TUBB3 | c.889A>T (p.Lys297Ter) n.4310A>T c.673A>T (p.Lys225Ter) c.277+1762A>T (n.277+1762A>T) c.*974A>T (n.*974A>T) c.1930A>T (p.Lys644Ter) | |
| 16 | g.89935341A>C | CA397475765 | TUBB3 | c.890A>C (p.Lys297Thr) n.4311A>C c.674A>C (p.Lys225Thr) c.277+1763A>C (n.277+1763A>C) c.*975A>C (n.*975A>C) c.1931A>C (p.Lys644Thr) | |
| 16 | g.89935341A>G | CA397475761 | TUBB3 | c.890A>G (p.Lys297Arg) n.4311A>G c.674A>G (p.Lys225Arg) c.277+1763A>G (n.277+1763A>G) c.*975A>G (n.*975A>G) c.1931A>G (p.Lys644Arg) | |
| 16 | g.89935341A>T | CA397475763 | TUBB3 | c.890A>T (p.Lys297Met) n.4311A>T c.674A>T (p.Lys225Met) c.277+1763A>T (n.277+1763A>T) c.*975A>T (n.*975A>T) c.1931A>T (p.Lys644Met) | |
| 16 | g.89935342G>A | CA497381426 | TUBB3 | c.891G>A (p.Lys297=) n.4312G>A c.675G>A (p.Lys225=) c.277+1764G>A (n.277+1764G>A) c.*976G>A (n.*976G>A) c.1932G>A (p.Lys644=) | gnomAD v4 |
| 16 | g.89935342G>C | CA397475766 | TUBB3 | c.891G>C (p.Lys297Asn) n.4312G>C c.675G>C (p.Lys225Asn) c.277+1764G>C (n.277+1764G>C) c.*976G>C (n.*976G>C) c.1932G>C (p.Lys644Asn) | |
| 16 | g.89935342G>T | CA397475774 | TUBB3 | c.891G>T (p.Lys297Asn) n.4312G>T c.675G>T (p.Lys225Asn) c.277+1764G>T (n.277+1764G>T) c.*976G>T (n.*976G>T) c.1932G>T (p.Lys644Asn) | gnomAD v4 |
| 16 | g.89935343A>C | CA397475777 | TUBB3 | c.892A>C (p.Asn298His) n.4313A>C c.676A>C (p.Asn226His) c.277+1765A>C (n.277+1765A>C) c.*977A>C (n.*977A>C) c.1933A>C (p.Asn645His) | |
| 16 | g.89935343A>G | CA397475778 | TUBB3 | c.892A>G (p.Asn298Asp) n.4313A>G c.676A>G (p.Asn226Asp) c.277+1765A>G (n.277+1765A>G) c.*977A>G (n.*977A>G) c.1933A>G (p.Asn645Asp) | |
| 16 | g.89935343A>T | CA397475779 | TUBB3 | c.892A>T (p.Asn298Tyr) n.4313A>T c.676A>T (p.Asn226Tyr) c.277+1765A>T (n.277+1765A>T) c.*977A>T (n.*977A>T) c.1933A>T (p.Asn645Tyr) | |
| 16 | g.89935344A>C | CA397475780 | TUBB3 | c.893A>C (p.Asn298Thr) n.4314A>C c.677A>C (p.Asn226Thr) c.277+1766A>C (n.277+1766A>C) c.*978A>C (n.*978A>C) c.1934A>C (p.Asn645Thr) | |
| 16 | g.89935344A>G | CA397475781 | TUBB3 | c.893A>G (p.Asn298Ser) n.4314A>G c.677A>G (p.Asn226Ser) c.277+1766A>G (n.277+1766A>G) c.*978A>G (n.*978A>G) c.1934A>G (p.Asn645Ser) | |
| 16 | g.89935344A>T | CA397475782 | TUBB3 | c.893A>T (p.Asn298Ile) n.4314A>T c.677A>T (p.Asn226Ile) c.277+1766A>T (n.277+1766A>T) c.*978A>T (n.*978A>T) c.1934A>T (p.Asn645Ile) | |
| 16 | g.89935346_89935347insCAACCAAACACACCCAACACA | CA2808106716 | TUBB3 | c.895_896insCAACCAAACACACCCAACACA (p.Asn298_Met299insThrThrLysHisThrGlnHis) n.4316_4317insCAACCAAACACACCCAACACA c.679_680insCAACCAAACACACCCAACACA (p.Asn226_Met227insThrThrLysHisThrGlnHis) c.277+1768_277+1769insCAACCAAACACACCCAACACA (n.277+1768_277+1769insCAACCAAACACACCCAACACA) c.*980_*981insCAACCAAACACACCCAACACA (n.*980_*981insCAACCAAACACACCCAACACA) c.1936_1937insCAACCAAACACACCCAACACA (p.Asn645_Met646insThrThrLysHisThrGlnHis) | |
| 16 | g.89935345C>A | CA397475783 | TUBB3 | c.894C>A (p.Asn298Lys) n.4315C>A c.678C>A (p.Asn226Lys) c.277+1767C>A (n.277+1767C>A) c.*979C>A (n.*979C>A) c.1935C>A (p.Asn645Lys) | |
| 16 | g.89935345C>G | CA397475786 | TUBB3 | c.894C>G (p.Asn298Lys) n.4315C>G c.678C>G (p.Asn226Lys) c.277+1767C>G (n.277+1767C>G) c.*979C>G (n.*979C>G) c.1935C>G (p.Asn645Lys) | |
| 16 | g.89935345C>T | CA497381428 | TUBB3 | c.894C>T (p.Asn298=) n.4315C>T c.678C>T (p.Asn226=) c.277+1767C>T (n.277+1767C>T) c.*979C>T (n.*979C>T) c.1935C>T (p.Asn645=) | |
| 16 | g.89935346A>C | CA397475790 | TUBB3 | c.895A>C (p.Met299Leu) n.4316A>C c.679A>C (p.Met227Leu) c.277+1768A>C (n.277+1768A>C) c.*980A>C (n.*980A>C) c.1936A>C (p.Met646Leu) | gnomAD v4 |
| 16 | g.89935346A>G | CA397475791 | TUBB3 | c.895A>G (p.Met299Val) n.4316A>G c.679A>G (p.Met227Val) c.277+1768A>G (n.277+1768A>G) c.*980A>G (n.*980A>G) c.1936A>G (p.Met646Val) | ClinVar |
| 16 | g.89935346A>T | CA397475788 | TUBB3 | c.895A>T (p.Met299Leu) n.4316A>T c.679A>T (p.Met227Leu) c.277+1768A>T (n.277+1768A>T) c.*980A>T (n.*980A>T) c.1936A>T (p.Met646Leu) | ClinVar |
| 16 | g.89935347T>A | CA397475794 | TUBB3 | c.896T>A (p.Met299Lys) n.4317T>A c.680T>A (p.Met227Lys) c.277+1769T>A (n.277+1769T>A) c.*981T>A (n.*981T>A) c.1937T>A (p.Met646Lys) | |
| 16 | g.89935347T>C | CA397475795 | TUBB3 | c.896T>C (p.Met299Thr) n.4317T>C c.680T>C (p.Met227Thr) c.277+1769T>C (n.277+1769T>C) c.*981T>C (n.*981T>C) c.1937T>C (p.Met646Thr) | gnomAD v4 |
| 16 | g.89935347T>G | CA397475796 | TUBB3 | c.896T>G (p.Met299Arg) n.4317T>G c.680T>G (p.Met227Arg) c.277+1769T>G (n.277+1769T>G) c.*981T>G (n.*981T>G) c.1937T>G (p.Met646Arg) | |
| 16 | g.89935348G>A | CA397475798 | TUBB3 | c.897G>A (p.Met299Ile) n.4318G>A c.681G>A (p.Met227Ile) c.277+1770G>A (n.277+1770G>A) c.*982G>A (n.*982G>A) c.1938G>A (p.Met646Ile) | COSMIC |
| 16 | g.89935348G>C | CA397475800 | TUBB3 | c.897G>C (p.Met299Ile) n.4318G>C c.681G>C (p.Met227Ile) c.277+1770G>C (n.277+1770G>C) c.*982G>C (n.*982G>C) c.1938G>C (p.Met646Ile) | |
| 16 | g.89935348G>T | CA397475803 | TUBB3 | c.897G>T (p.Met299Ile) n.4318G>T c.681G>T (p.Met227Ile) c.277+1770G>T (n.277+1770G>T) c.*982G>T (n.*982G>T) c.1938G>T (p.Met646Ile) | ClinVar gnomAD v4 |
| 16 | g.89935349A>C | CA397475805 | TUBB3 | c.898A>C (p.Met300Leu) n.4319A>C c.682A>C (p.Met228Leu) c.277+1771A>C (n.277+1771A>C) c.*983A>C (n.*983A>C) c.1939A>C (p.Met647Leu) | |
| 16 | g.89935349A>G | CA397475807 | TUBB3 | c.898A>G (p.Met300Val) n.4319A>G c.682A>G (p.Met228Val) c.277+1771A>G (n.277+1771A>G) c.*983A>G (n.*983A>G) c.1939A>G (p.Met647Val) | |
| 16 | g.89935349A>T | CA397475810 | TUBB3 | c.898A>T (p.Met300Leu) n.4319A>T c.682A>T (p.Met228Leu) c.277+1771A>T (n.277+1771A>T) c.*983A>T (n.*983A>T) c.1939A>T (p.Met647Leu) | |
| 16 | g.89935350del | CA2580092417 | TUBB3 | c.899del (p.Met300ArgfsTer12) n.4320del c.683del (p.Met228ArgfsTer12) c.277+1772del (n.277+1772del) c.*984del (n.*984del) c.1940del (p.Met647ArgfsTer12) | ClinVar |
| 16 | g.89935350T>A | CA397475815 | TUBB3 | c.899T>A (p.Met300Lys) n.4320T>A c.683T>A (p.Met228Lys) c.277+1772T>A (n.277+1772T>A) c.*984T>A (n.*984T>A) c.1940T>A (p.Met647Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935350T>C | CA397475818 | TUBB3 | c.899T>C (p.Met300Thr) n.4320T>C c.683T>C (p.Met228Thr) c.277+1772T>C (n.277+1772T>C) c.*984T>C (n.*984T>C) c.1940T>C (p.Met647Thr) | |
| 16 | g.89935350T>G | CA397475821 | TUBB3 | c.899T>G (p.Met300Arg) n.4320T>G c.683T>G (p.Met228Arg) c.277+1772T>G (n.277+1772T>G) c.*984T>G (n.*984T>G) c.1940T>G (p.Met647Arg) | |
| 16 | g.89935350T= | CA2242020263 | TUBB3 | c.899T= (p.Met300=) n.4320T= c.683T= (p.Met228=) c.277+1772T= (n.277+1772T=) c.*984T= (n.*984T=) c.1940T= (p.Met647=) | |
| 16 | g.89935351G>A | CA397475826 | TUBB3 | c.900G>A (p.Met300Ile) n.4321G>A c.684G>A (p.Met228Ile) c.277+1773G>A (n.277+1773G>A) c.*985G>A (n.*985G>A) c.1941G>A (p.Met647Ile) | COSMIC |
| 16 | g.89935351G>C | CA397475828 | TUBB3 | c.900G>C (p.Met300Ile) n.4321G>C c.684G>C (p.Met228Ile) c.277+1773G>C (n.277+1773G>C) c.*985G>C (n.*985G>C) c.1941G>C (p.Met647Ile) | |
| 16 | g.89935351G>T | CA397475825 | TUBB3 | c.900G>T (p.Met300Ile) n.4321G>T c.684G>T (p.Met228Ile) c.277+1773G>T (n.277+1773G>T) c.*985G>T (n.*985G>T) c.1941G>T (p.Met647Ile) | |
| 16 | g.89935352G>A | CA397475832 | TUBB3 | c.901G>A (p.Ala301Thr) n.4322G>A c.685G>A (p.Ala229Thr) c.277+1774G>A (n.277+1774G>A) c.*986G>A (n.*986G>A) c.1942G>A (p.Ala648Thr) | |
| 16 | g.89935352G>C | CA397475835 | TUBB3 | c.901G>C (p.Ala301Pro) n.4322G>C c.685G>C (p.Ala229Pro) c.277+1774G>C (n.277+1774G>C) c.*986G>C (n.*986G>C) c.1942G>C (p.Ala648Pro) | |
| 16 | g.89935352G>T | CA397475836 | TUBB3 | c.901G>T (p.Ala301Ser) n.4322G>T c.685G>T (p.Ala229Ser) c.277+1774G>T (n.277+1774G>T) c.*986G>T (n.*986G>T) c.1942G>T (p.Ala648Ser) | |
| 16 | g.89935353C>A | CA397475837 | TUBB3 | c.902C>A (p.Ala301Asp) n.4323C>A c.686C>A (p.Ala229Asp) c.277+1775C>A (n.277+1775C>A) c.*987C>A (n.*987C>A) c.1943C>A (p.Ala648Asp) | |
| 16 | g.89935353C>G | CA397475838 | TUBB3 | c.902C>G (p.Ala301Gly) n.4323C>G c.686C>G (p.Ala229Gly) c.277+1775C>G (n.277+1775C>G) c.*987C>G (n.*987C>G) c.1943C>G (p.Ala648Gly) | |
| 16 | g.89935353C>T | CA397475839 | TUBB3 | c.902C>T (p.Ala301Val) n.4323C>T c.686C>T (p.Ala229Val) c.277+1775C>T (n.277+1775C>T) c.*987C>T (n.*987C>T) c.1943C>T (p.Ala648Val) | |
| 16 | g.89935354C>A | CA497381429 | TUBB3 | c.903C>A (p.Ala301=) n.4324C>A c.687C>A (p.Ala229=) c.277+1776C>A (n.277+1776C>A) c.*988C>A (n.*988C>A) c.1944C>A (p.Ala648=) | dbSNP |
| 16 | g.89935354C= | CA2242020269 | TUBB3 | c.903C= (p.Ala301=) n.4324C= c.687C= (p.Ala229=) c.277+1776C= (n.277+1776C=) c.*988C= (n.*988C=) c.1944C= (p.Ala648=) | |
| 16 | g.89935354C>G | CA497381431 | TUBB3 | c.903C>G (p.Ala301=) n.4324C>G c.687C>G (p.Ala229=) c.277+1776C>G (n.277+1776C>G) c.*988C>G (n.*988C>G) c.1944C>G (p.Ala648=) | |
| 16 | g.89935354C>T | CA8256178 | TUBB3 | c.903C>T (p.Ala301=) n.4324C>T c.687C>T (p.Ala229=) c.277+1776C>T (n.277+1776C>T) c.*988C>T (n.*988C>T) c.1944C>T (p.Ala648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89935355G>A | CA340620 | TUBB3 | c.904G>A (p.Ala302Thr) n.4325G>A c.688G>A (p.Ala230Thr) c.277+1777G>A (n.277+1777G>A) c.*989G>A (n.*989G>A) c.1945G>A (p.Ala649Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89935355G>C | CA397475842 | TUBB3 | c.904G>C (p.Ala302Pro) n.4325G>C c.688G>C (p.Ala230Pro) c.277+1777G>C (n.277+1777G>C) c.*989G>C (n.*989G>C) c.1945G>C (p.Ala649Pro) | |
| 16 | g.89935355G= | CA2242020273 | TUBB3 | c.904G= (p.Ala302=) n.4325G= c.688G= (p.Ala230=) c.277+1777G= (n.277+1777G=) c.*989G= (n.*989G=) c.1945G= (p.Ala649=) | |
| 16 | g.89935355G>T | CA397475844 | TUBB3 | c.904G>T (p.Ala302Ser) n.4325G>T c.688G>T (p.Ala230Ser) c.277+1777G>T (n.277+1777G>T) c.*989G>T (n.*989G>T) c.1945G>T (p.Ala649Ser) | ClinVar |
| 16 | g.89935356C>A | CA397475846 | TUBB3 | c.905C>A (p.Ala302Asp) n.4326C>A c.689C>A (p.Ala230Asp) c.277+1778C>A (n.277+1778C>A) c.*990C>A (n.*990C>A) c.1946C>A (p.Ala649Asp) | |
| 16 | g.89935356C= | CA2242020279 | TUBB3 | c.905C= (p.Ala302=) n.4326C= c.689C= (p.Ala230=) c.277+1778C= (n.277+1778C=) c.*990C= (n.*990C=) c.1946C= (p.Ala649=) | |
| 16 | g.89935356C>G | CA397475850 | TUBB3 | c.905C>G (p.Ala302Gly) n.4326C>G c.689C>G (p.Ala230Gly) c.277+1778C>G (n.277+1778C>G) c.*990C>G (n.*990C>G) c.1946C>G (p.Ala649Gly) | |
| 16 | g.89935356C>T | CA10575550 | TUBB3 | c.905C>T (p.Ala302Val) n.4326C>T c.689C>T (p.Ala230Val) c.277+1778C>T (n.277+1778C>T) c.*990C>T (n.*990C>T) c.1946C>T (p.Ala649Val) | ClinVar dbSNP |
| 16 | g.89935357C>A | CA497381211 | TUBB3 | c.906C>A (p.Ala302=) n.4327C>A c.690C>A (p.Ala230=) c.277+1779C>A (n.277+1779C>A) c.*991C>A (n.*991C>A) c.1947C>A (p.Ala649=) | |
| 16 | g.89935357C= | CA2242020282 | TUBB3 | c.906C= (p.Ala302=) n.4327C= c.690C= (p.Ala230=) c.277+1779C= (n.277+1779C=) c.*991C= (n.*991C=) c.1947C= (p.Ala649=) | |
| 16 | g.89935357C>G | CA497381212 | TUBB3 | c.906C>G (p.Ala302=) n.4327C>G c.690C>G (p.Ala230=) c.277+1779C>G (n.277+1779C>G) c.*991C>G (n.*991C>G) c.1947C>G (p.Ala649=) | |
| 16 | g.89935357C>T | CA497381213 | TUBB3 | c.906C>T (p.Ala302=) n.4327C>T c.690C>T (p.Ala230=) c.277+1779C>T (n.277+1779C>T) c.*991C>T (n.*991C>T) c.1947C>T (p.Ala649=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935358T>A | CA397475860 | TUBB3 | c.907T>A (p.Cys303Ser) n.4328T>A c.691T>A (p.Cys231Ser) c.277+1780T>A (n.277+1780T>A) c.*992T>A (n.*992T>A) c.1948T>A (p.Cys650Ser) | |
| 16 | g.89935358T>C | CA397475858 | TUBB3 | c.907T>C (p.Cys303Arg) n.4328T>C c.691T>C (p.Cys231Arg) c.277+1780T>C (n.277+1780T>C) c.*992T>C (n.*992T>C) c.1948T>C (p.Cys650Arg) | |
| 16 | g.89935358T>G | CA397475855 | TUBB3 | c.907T>G (p.Cys303Gly) n.4328T>G c.691T>G (p.Cys231Gly) c.277+1780T>G (n.277+1780T>G) c.*992T>G (n.*992T>G) c.1948T>G (p.Cys650Gly) | |
| 16 | g.89935359G>A | CA397475862 | TUBB3 | c.908G>A (p.Cys303Tyr) n.4329G>A c.692G>A (p.Cys231Tyr) c.277+1781G>A (n.277+1781G>A) c.*993G>A (n.*993G>A) c.1949G>A (p.Cys650Tyr) | gnomAD v4 |
| 16 | g.89935359G>C | CA397475866 | TUBB3 | c.908G>C (p.Cys303Ser) n.4329G>C c.692G>C (p.Cys231Ser) c.277+1781G>C (n.277+1781G>C) c.*993G>C (n.*993G>C) c.1949G>C (p.Cys650Ser) | |
| 16 | g.89935359G>T | CA397475864 | TUBB3 | c.908G>T (p.Cys303Phe) n.4329G>T c.692G>T (p.Cys231Phe) c.277+1781G>T (n.277+1781G>T) c.*993G>T (n.*993G>T) c.1949G>T (p.Cys650Phe) | |
| 16 | g.89935360C>A | CA397475868 | TUBB3 | c.909C>A (p.Cys303Ter) n.4330C>A c.693C>A (p.Cys231Ter) c.277+1782C>A (n.277+1782C>A) c.*994C>A (n.*994C>A) c.1950C>A (p.Cys650Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89935360C= | CA2242020286 | TUBB3 | c.909C= (p.Cys303=) n.4330C= c.693C= (p.Cys231=) c.277+1782C= (n.277+1782C=) c.*994C= (n.*994C=) c.1950C= (p.Cys650=) | |
| 16 | g.89935360C>G | CA397475870 | TUBB3 | c.909C>G (p.Cys303Trp) n.4330C>G c.693C>G (p.Cys231Trp) c.277+1782C>G (n.277+1782C>G) c.*994C>G (n.*994C>G) c.1950C>G (p.Cys650Trp) | |
| 16 | g.89935360C>T | CA8256179 | TUBB3 | c.909C>T (p.Cys303=) n.4330C>T c.693C>T (p.Cys231=) c.277+1782C>T (n.277+1782C>T) c.*994C>T (n.*994C>T) c.1950C>T (p.Cys650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935361G>A | CA397475874 | TUBB3 | c.910G>A (p.Asp304Asn) n.4331G>A c.694G>A (p.Asp232Asn) c.277+1783G>A (n.277+1783G>A) c.*995G>A (n.*995G>A) c.1951G>A (p.Asp651Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935361G>C | CA397475877 | TUBB3 | c.910G>C (p.Asp304His) n.4331G>C c.694G>C (p.Asp232His) c.277+1783G>C (n.277+1783G>C) c.*995G>C (n.*995G>C) c.1951G>C (p.Asp651His) | |
| 16 | g.89935361G= | CA2242020290 | TUBB3 | c.910G= (p.Asp304=) n.4331G= c.694G= (p.Asp232=) c.277+1783G= (n.277+1783G=) c.*995G= (n.*995G=) c.1951G= (p.Asp651=) | |
| 16 | g.89935361G>T | CA397475879 | TUBB3 | c.910G>T (p.Asp304Tyr) n.4331G>T c.694G>T (p.Asp232Tyr) c.277+1783G>T (n.277+1783G>T) c.*995G>T (n.*995G>T) c.1951G>T (p.Asp651Tyr) | |
| 16 | g.89935362A= | CA2242020294 | TUBB3 | c.911A= (p.Asp304=) n.4332A= c.695A= (p.Asp232=) c.277+1784A= (n.277+1784A=) c.*996A= (n.*996A=) c.1952A= (p.Asp651=) | |
| 16 | g.89935362A>C | CA397475882 | TUBB3 | c.911A>C (p.Asp304Ala) n.4332A>C c.695A>C (p.Asp232Ala) c.277+1784A>C (n.277+1784A>C) c.*996A>C (n.*996A>C) c.1952A>C (p.Asp651Ala) | dbSNP |
| 16 | g.89935362A>G | CA397475884 | TUBB3 | c.911A>G (p.Asp304Gly) n.4332A>G c.695A>G (p.Asp232Gly) c.277+1784A>G (n.277+1784A>G) c.*996A>G (n.*996A>G) c.1952A>G (p.Asp651Gly) | |
| 16 | g.89935362A>T | CA397475887 | TUBB3 | c.911A>T (p.Asp304Val) n.4332A>T c.695A>T (p.Asp232Val) c.277+1784A>T (n.277+1784A>T) c.*996A>T (n.*996A>T) c.1952A>T (p.Asp651Val) | |
| 16 | g.89935363C>A | CA397475890 | TUBB3 | c.912C>A (p.Asp304Glu) n.4333C>A c.696C>A (p.Asp232Glu) c.277+1785C>A (n.277+1785C>A) c.*997C>A (n.*997C>A) c.1953C>A (p.Asp651Glu) | |
| 16 | g.89935363C= | CA2242020296 | TUBB3 | c.912C= (p.Asp304=) n.4333C= c.696C= (p.Asp232=) c.277+1785C= (n.277+1785C=) c.*997C= (n.*997C=) c.1953C= (p.Asp651=) | |
| 16 | g.89935363C>G | CA397475892 | TUBB3 | c.912C>G (p.Asp304Glu) n.4333C>G c.696C>G (p.Asp232Glu) c.277+1785C>G (n.277+1785C>G) c.*997C>G (n.*997C>G) c.1953C>G (p.Asp651Glu) | |
| 16 | g.89935363C>T | CA497381219 | TUBB3 | c.912C>T (p.Asp304=) n.4333C>T c.696C>T (p.Asp232=) c.277+1785C>T (n.277+1785C>T) c.*997C>T (n.*997C>T) c.1953C>T (p.Asp651=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935364C>A | CA397475898 | TUBB3 | c.913C>A (p.Pro305Thr) n.4334C>A c.697C>A (p.Pro233Thr) c.277+1786C>A (n.277+1786C>A) c.*998C>A (n.*998C>A) c.1954C>A (p.Pro652Thr) | |
| 16 | g.89935364C>G | CA397475894 | TUBB3 | c.913C>G (p.Pro305Ala) n.4334C>G c.697C>G (p.Pro233Ala) c.277+1786C>G (n.277+1786C>G) c.*998C>G (n.*998C>G) c.1954C>G (p.Pro652Ala) | |
| 16 | g.89935364C>T | CA397475896 | TUBB3 | c.913C>T (p.Pro305Ser) n.4334C>T c.697C>T (p.Pro233Ser) c.277+1786C>T (n.277+1786C>T) c.*998C>T (n.*998C>T) c.1954C>T (p.Pro652Ser) | |
| 16 | g.89935365C>A | CA397475899 | TUBB3 | c.914C>A (p.Pro305Gln) n.4335C>A c.698C>A (p.Pro233Gln) c.277+1787C>A (n.277+1787C>A) c.*999C>A (n.*999C>A) c.1955C>A (p.Pro652Gln) | |
| 16 | g.89935365C>G | CA397475902 | TUBB3 | c.914C>G (p.Pro305Arg) n.4335C>G c.698C>G (p.Pro233Arg) c.277+1787C>G (n.277+1787C>G) c.*999C>G (n.*999C>G) c.1955C>G (p.Pro652Arg) | |
| 16 | g.89935365C>T | CA397475903 | TUBB3 | c.914C>T (p.Pro305Leu) n.4335C>T c.698C>T (p.Pro233Leu) c.277+1787C>T (n.277+1787C>T) c.*999C>T (n.*999C>T) c.1955C>T (p.Pro652Leu) | gnomAD v4 |
| 16 | g.89935366G>A | CA8256180 | TUBB3 | c.915G>A (p.Pro305=) n.4336G>A c.699G>A (p.Pro233=) c.277+1788G>A (n.277+1788G>A) c.*1000G>A (n.*1000G>A) c.1956G>A (p.Pro652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935366G>C | CA8256181 | TUBB3 | c.915G>C (p.Pro305=) n.4336G>C c.699G>C (p.Pro233=) c.277+1788G>C (n.277+1788G>C) c.*1000G>C (n.*1000G>C) c.1956G>C (p.Pro652=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935366G= | CA2242020301 | TUBB3 | c.915G= (p.Pro305=) n.4336G= c.699G= (p.Pro233=) c.277+1788G= (n.277+1788G=) c.*1000G= (n.*1000G=) c.1956G= (p.Pro652=) | |
| 16 | g.89935366G>T | CA497381227 | TUBB3 | c.915G>T (p.Pro305=) n.4336G>T c.699G>T (p.Pro233=) c.277+1788G>T (n.277+1788G>T) c.*1000G>T (n.*1000G>T) c.1956G>T (p.Pro652=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89935367C>A | CA397475907 | TUBB3 | c.916C>A (p.Arg306Ser) n.4337C>A c.700C>A (p.Arg234Ser) c.277+1789C>A (n.277+1789C>A) c.*1001C>A (n.*1001C>A) c.1957C>A (p.Arg653Ser) | dbSNP |
| 16 | g.89935367C= | CA2242020304 | TUBB3 | c.916C= (p.Arg306=) n.4337C= c.700C= (p.Arg234=) c.277+1789C= (n.277+1789C=) c.*1001C= (n.*1001C=) c.1957C= (p.Arg653=) | |
| 16 | g.89935367C>G | CA397475909 | TUBB3 | c.916C>G (p.Arg306Gly) n.4337C>G c.700C>G (p.Arg234Gly) c.277+1789C>G (n.277+1789C>G) c.*1001C>G (n.*1001C>G) c.1957C>G (p.Arg653Gly) | |
| 16 | g.89935367C>T | CA397475913 | TUBB3 | c.916C>T (p.Arg306Cys) n.4337C>T c.700C>T (p.Arg234Cys) c.277+1789C>T (n.277+1789C>T) c.*1001C>T (n.*1001C>T) c.1957C>T (p.Arg653Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89935368G>A | CA397475914 | TUBB3 | c.917G>A (p.Arg306His) n.4338G>A c.701G>A (p.Arg234His) c.277+1790G>A (n.277+1790G>A) c.*1002G>A (n.*1002G>A) c.1958G>A (p.Arg653His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935368G>C | CA397475915 | TUBB3 | c.917G>C (p.Arg306Pro) n.4338G>C c.701G>C (p.Arg234Pro) c.277+1790G>C (n.277+1790G>C) c.*1002G>C (n.*1002G>C) c.1958G>C (p.Arg653Pro) | |
| 16 | g.89935368G= | CA2242020308 | TUBB3 | c.917G= (p.Arg306=) n.4338G= c.701G= (p.Arg234=) c.277+1790G= (n.277+1790G=) c.*1002G= (n.*1002G=) c.1958G= (p.Arg653=) | |
| 16 | g.89935368G>T | CA397475917 | TUBB3 | c.917G>T (p.Arg306Leu) n.4338G>T c.701G>T (p.Arg234Leu) c.277+1790G>T (n.277+1790G>T) c.*1002G>T (n.*1002G>T) c.1958G>T (p.Arg653Leu) | |
| 16 | g.89935369C>A | CA497381229 | TUBB3 | c.918C>A (p.Arg306=) n.4339C>A c.702C>A (p.Arg234=) c.277+1791C>A (n.277+1791C>A) c.*1003C>A (n.*1003C>A) c.1959C>A (p.Arg653=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935369C= | CA2242020311 | TUBB3 | c.918C= (p.Arg306=) n.4339C= c.702C= (p.Arg234=) c.277+1791C= (n.277+1791C=) c.*1003C= (n.*1003C=) c.1959C= (p.Arg653=) | |
| 16 | g.89935369C>G | CA497381231 | TUBB3 | c.918C>G (p.Arg306=) n.4339C>G c.702C>G (p.Arg234=) c.277+1791C>G (n.277+1791C>G) c.*1003C>G (n.*1003C>G) c.1959C>G (p.Arg653=) | |
| 16 | g.89935369C>T | CA497381232 | TUBB3 | c.918C>T (p.Arg306=) n.4339C>T c.702C>T (p.Arg234=) c.277+1791C>T (n.277+1791C>T) c.*1003C>T (n.*1003C>T) c.1959C>T (p.Arg653=) | dbSNP gnomAD v4 |
| 16 | g.89935370C>A | CA397475919 | TUBB3 | c.919C>A (p.His307Asn) n.4340C>A c.703C>A (p.His235Asn) c.277+1792C>A (n.277+1792C>A) c.*1004C>A (n.*1004C>A) c.1960C>A (p.His654Asn) | |
| 16 | g.89935370C>G | CA397475920 | TUBB3 | c.919C>G (p.His307Asp) n.4340C>G c.703C>G (p.His235Asp) c.277+1792C>G (n.277+1792C>G) c.*1004C>G (n.*1004C>G) c.1960C>G (p.His654Asp) | |
| 16 | g.89935370C>T | CA397475918 | TUBB3 | c.919C>T (p.His307Tyr) n.4340C>T c.703C>T (p.His235Tyr) c.277+1792C>T (n.277+1792C>T) c.*1004C>T (n.*1004C>T) c.1960C>T (p.His654Tyr) | |
| 16 | g.89935371A>C | CA397475921 | TUBB3 | c.920A>C (p.His307Pro) n.4341A>C c.704A>C (p.His235Pro) c.277+1793A>C (n.277+1793A>C) c.*1005A>C (n.*1005A>C) c.1961A>C (p.His654Pro) | |
| 16 | g.89935371A>G | CA397475922 | TUBB3 | c.920A>G (p.His307Arg) n.4341A>G c.704A>G (p.His235Arg) c.277+1793A>G (n.277+1793A>G) c.*1005A>G (n.*1005A>G) c.1961A>G (p.His654Arg) | |
| 16 | g.89935371A>T | CA397475923 | TUBB3 | c.920A>T (p.His307Leu) n.4341A>T c.704A>T (p.His235Leu) c.277+1793A>T (n.277+1793A>T) c.*1005A>T (n.*1005A>T) c.1961A>T (p.His654Leu) | |
| 16 | g.89935372C>A | CA397475924 | TUBB3 | c.921C>A (p.His307Gln) n.4342C>A c.705C>A (p.His235Gln) c.277+1794C>A (n.277+1794C>A) c.*1006C>A (n.*1006C>A) c.1962C>A (p.His654Gln) | |
| 16 | g.89935372C= | CA2242020316 | TUBB3 | c.921C= (p.His307=) n.4342C= c.705C= (p.His235=) c.277+1794C= (n.277+1794C=) c.*1006C= (n.*1006C=) c.1962C= (p.His654=) | |
| 16 | g.89935372C>G | CA8256182 | TUBB3 | c.921C>G (p.His307Gln) n.4342C>G c.705C>G (p.His235Gln) c.277+1794C>G (n.277+1794C>G) c.*1006C>G (n.*1006C>G) c.1962C>G (p.His654Gln) | dbSNP ExAC |
| 16 | g.89935372C>T | CA245301 | TUBB3 | c.921C>T (p.His307=) n.4342C>T c.705C>T (p.His235=) c.277+1794C>T (n.277+1794C>T) c.*1006C>T (n.*1006C>T) c.1962C>T (p.His654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935373G>A | CA397475927 | TUBB3 | c.922G>A (p.Gly308Ser) n.4343G>A c.706G>A (p.Gly236Ser) c.277+1795G>A (n.277+1795G>A) c.*1007G>A (n.*1007G>A) c.1963G>A (p.Gly655Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935373G>C | CA397475928 | TUBB3 | c.922G>C (p.Gly308Arg) n.4343G>C c.706G>C (p.Gly236Arg) c.277+1795G>C (n.277+1795G>C) c.*1007G>C (n.*1007G>C) c.1963G>C (p.Gly655Arg) | |
| 16 | g.89935373G= | CA2242020322 | TUBB3 | c.922G= (p.Gly308=) n.4343G= c.706G= (p.Gly236=) c.277+1795G= (n.277+1795G=) c.*1007G= (n.*1007G=) c.1963G= (p.Gly655=) | |
| 16 | g.89935373G>T | CA397475929 | TUBB3 | c.922G>T (p.Gly308Cys) n.4343G>T c.706G>T (p.Gly236Cys) c.277+1795G>T (n.277+1795G>T) c.*1007G>T (n.*1007G>T) c.1963G>T (p.Gly655Cys) | dbSNP gnomAD v4 |
| 16 | g.89935374G>A | CA397475931 | TUBB3 | c.923G>A (p.Gly308Asp) n.4344G>A c.707G>A (p.Gly236Asp) c.277+1796G>A (n.277+1796G>A) c.*1008G>A (n.*1008G>A) c.1964G>A (p.Gly655Asp) | |
| 16 | g.89935374G>C | CA397475934 | TUBB3 | c.923G>C (p.Gly308Ala) n.4344G>C c.707G>C (p.Gly236Ala) c.277+1796G>C (n.277+1796G>C) c.*1008G>C (n.*1008G>C) c.1964G>C (p.Gly655Ala) | |
| 16 | g.89935374G>T | CA397475936 | TUBB3 | c.923G>T (p.Gly308Val) n.4344G>T c.707G>T (p.Gly236Val) c.277+1796G>T (n.277+1796G>T) c.*1008G>T (n.*1008G>T) c.1964G>T (p.Gly655Val) | |
| 16 | g.89935374_89935375delinsGC | CA2242020328 | TUBB3 | c.923_924delinsGC (p.Gly308=) n.4344_4345delinsGC c.707_708delinsGC (p.Gly236=) c.277+1796_277+1797delinsGC (n.277+1796_277+1797delinsGC) c.*1008_*1009delinsGC (n.*1008_*1009delinsGC) c.1964_1965delinsGC (p.Gly655=) | |
| 16 | g.89935375C>A | CA286619238 | TUBB3 | c.924C>A (p.Gly308=) n.4345C>A c.708C>A (p.Gly236=) c.277+1797C>A (n.277+1797C>A) c.*1009C>A (n.*1009C>A) c.1965C>A (p.Gly655=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935375C= | CA2242020332 | TUBB3 | c.924C= (p.Gly308=) n.4345C= c.708C= (p.Gly236=) c.277+1797C= (n.277+1797C=) c.*1009C= (n.*1009C=) c.1965C= (p.Gly655=) | |
| 16 | g.89935375C>G | CA497381244 | TUBB3 | c.924C>G (p.Gly308=) n.4345C>G c.708C>G (p.Gly236=) c.277+1797C>G (n.277+1797C>G) c.*1009C>G (n.*1009C>G) c.1965C>G (p.Gly655=) | gnomAD v4 |
| 16 | g.89935375C>T | CA497381243 | TUBB3 | c.924C>T (p.Gly308=) n.4345C>T c.708C>T (p.Gly236=) c.277+1797C>T (n.277+1797C>T) c.*1009C>T (n.*1009C>T) c.1965C>T (p.Gly655=) | |
| 16 | g.89935376del | CA2242020330 | TUBB3 | c.925del (p.Arg309AlafsTer3) n.4346del c.709del (p.Arg237AlafsTer3) c.277+1798del (n.277+1798del) c.*1010del (n.*1010del) c.1966del (p.Arg656AlafsTer3) | dbSNP gnomAD v4 |
| 16 | g.89935376C>A | CA397475941 | TUBB3 | c.925C>A (p.Arg309Ser) n.4346C>A c.709C>A (p.Arg237Ser) c.277+1798C>A (n.277+1798C>A) c.*1010C>A (n.*1010C>A) c.1966C>A (p.Arg656Ser) | |
| 16 | g.89935376C>G | CA397475946 | TUBB3 | c.925C>G (p.Arg309Gly) n.4346C>G c.709C>G (p.Arg237Gly) c.277+1798C>G (n.277+1798C>G) c.*1010C>G (n.*1010C>G) c.1966C>G (p.Arg656Gly) | |
| 16 | g.89935376C>T | CA397475938 | TUBB3 | c.925C>T (p.Arg309Cys) n.4346C>T c.709C>T (p.Arg237Cys) c.277+1798C>T (n.277+1798C>T) c.*1010C>T (n.*1010C>T) c.1966C>T (p.Arg656Cys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89935377G>A | CA8256183 | TUBB3 | c.926G>A (p.Arg309His) n.4347G>A c.710G>A (p.Arg237His) c.277+1799G>A (n.277+1799G>A) c.*1011G>A (n.*1011G>A) c.1967G>A (p.Arg656His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935377G>C | CA397475950 | TUBB3 | c.926G>C (p.Arg309Pro) n.4347G>C c.710G>C (p.Arg237Pro) c.277+1799G>C (n.277+1799G>C) c.*1011G>C (n.*1011G>C) c.1967G>C (p.Arg656Pro) | |
| 16 | g.89935377G= | CA2242020336 | TUBB3 | c.926G= (p.Arg309=) n.4347G= c.710G= (p.Arg237=) c.277+1799G= (n.277+1799G=) c.*1011G= (n.*1011G=) c.1967G= (p.Arg656=) | |
| 16 | g.89935377G>T | CA397475952 | TUBB3 | c.926G>T (p.Arg309Leu) n.4347G>T c.710G>T (p.Arg237Leu) c.277+1799G>T (n.277+1799G>T) c.*1011G>T (n.*1011G>T) c.1967G>T (p.Arg656Leu) | |
| 16 | g.89935378C>A | CA497381253 | TUBB3 | c.927C>A (p.Arg309=) n.4348C>A c.711C>A (p.Arg237=) c.277+1800C>A (n.277+1800C>A) c.*1012C>A (n.*1012C>A) c.1968C>A (p.Arg656=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935378C= | CA2242020341 | TUBB3 | c.927C= (p.Arg309=) n.4348C= c.711C= (p.Arg237=) c.277+1800C= (n.277+1800C=) c.*1012C= (n.*1012C=) c.1968C= (p.Arg656=) | |
| 16 | g.89935378C>G | CA497381251 | TUBB3 | c.927C>G (p.Arg309=) n.4348C>G c.711C>G (p.Arg237=) c.277+1800C>G (n.277+1800C>G) c.*1012C>G (n.*1012C>G) c.1968C>G (p.Arg656=) | |
| 16 | g.89935378C>T | CA497381249 | TUBB3 | c.927C>T (p.Arg309=) n.4348C>T c.711C>T (p.Arg237=) c.277+1800C>T (n.277+1800C>T) c.*1012C>T (n.*1012C>T) c.1968C>T (p.Arg656=) | dbSNP gnomAD v4 |
| 16 | g.89935379T>A | CA397475953 | TUBB3 | c.928T>A (p.Tyr310Asn) n.4349T>A c.712T>A (p.Tyr238Asn) c.277+1801T>A (n.277+1801T>A) c.*1013T>A (n.*1013T>A) c.1969T>A (p.Tyr657Asn) | |
| 16 | g.89935379T>C | CA397475956 | TUBB3 | c.928T>C (p.Tyr310His) n.4349T>C c.712T>C (p.Tyr238His) c.277+1801T>C (n.277+1801T>C) c.*1013T>C (n.*1013T>C) c.1969T>C (p.Tyr657His) | |
| 16 | g.89935379T>G | CA397475959 | TUBB3 | c.928T>G (p.Tyr310Asp) n.4349T>G c.712T>G (p.Tyr238Asp) c.277+1801T>G (n.277+1801T>G) c.*1013T>G (n.*1013T>G) c.1969T>G (p.Tyr657Asp) | |
| 16 | g.89935380A>C | CA397475965 | TUBB3 | c.929A>C (p.Tyr310Ser) n.4350A>C c.713A>C (p.Tyr238Ser) c.277+1802A>C (n.277+1802A>C) c.*1014A>C (n.*1014A>C) c.1970A>C (p.Tyr657Ser) | |
| 16 | g.89935380A>G | CA397475961 | TUBB3 | c.929A>G (p.Tyr310Cys) n.4350A>G c.713A>G (p.Tyr238Cys) c.277+1802A>G (n.277+1802A>G) c.*1014A>G (n.*1014A>G) c.1970A>G (p.Tyr657Cys) | ClinVar dbSNP |
| 16 | g.89935380A>T | CA397475962 | TUBB3 | c.929A>T (p.Tyr310Phe) n.4350A>T c.713A>T (p.Tyr238Phe) c.277+1802A>T (n.277+1802A>T) c.*1014A>T (n.*1014A>T) c.1970A>T (p.Tyr657Phe) | |
| 16 | g.89935381C>A | CA397475968 | TUBB3 | c.930C>A (p.Tyr310Ter) n.4351C>A c.714C>A (p.Tyr238Ter) c.277+1803C>A (n.277+1803C>A) c.*1015C>A (n.*1015C>A) c.1971C>A (p.Tyr657Ter) | |
| 16 | g.89935381C= | CA2242020346 | TUBB3 | c.930C= (p.Tyr310=) n.4351C= c.714C= (p.Tyr238=) c.277+1803C= (n.277+1803C=) c.*1015C= (n.*1015C=) c.1971C= (p.Tyr657=) | |
| 16 | g.89935381C>G | CA397475970 | TUBB3 | c.930C>G (p.Tyr310Ter) n.4351C>G c.714C>G (p.Tyr238Ter) c.277+1803C>G (n.277+1803C>G) c.*1015C>G (n.*1015C>G) c.1971C>G (p.Tyr657Ter) | |
| 16 | g.89935381C>T | CA497381257 | TUBB3 | c.930C>T (p.Tyr310=) n.4351C>T c.714C>T (p.Tyr238=) c.277+1803C>T (n.277+1803C>T) c.*1015C>T (n.*1015C>T) c.1971C>T (p.Tyr657=) | dbSNP gnomAD v4 |
| 16 | g.89935382C>A | CA397475980 | TUBB3 | c.931C>A (p.Leu311Met) n.4352C>A c.715C>A (p.Leu239Met) c.277+1804C>A (n.277+1804C>A) c.*1016C>A (n.*1016C>A) c.1972C>A (p.Leu658Met) | |
| 16 | g.89935382C= | CA2242020352 | TUBB3 | c.931C= (p.Leu311=) n.4352C= c.715C= (p.Leu239=) c.277+1804C= (n.277+1804C=) c.*1016C= (n.*1016C=) c.1972C= (p.Leu658=) | |
| 16 | g.89935382C>G | CA397475982 | TUBB3 | c.931C>G (p.Leu311Val) n.4352C>G c.715C>G (p.Leu239Val) c.277+1804C>G (n.277+1804C>G) c.*1016C>G (n.*1016C>G) c.1972C>G (p.Leu658Val) | |
| 16 | g.89935382C>T | CA8256184 | TUBB3 | c.931C>T (p.Leu311=) n.4352C>T c.715C>T (p.Leu239=) c.277+1804C>T (n.277+1804C>T) c.*1016C>T (n.*1016C>T) c.1972C>T (p.Leu658=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935383T>A | CA397475984 | TUBB3 | c.932T>A (p.Leu311Gln) n.4353T>A c.716T>A (p.Leu239Gln) c.277+1805T>A (n.277+1805T>A) c.*1017T>A (n.*1017T>A) c.1973T>A (p.Leu658Gln) | |
| 16 | g.89935383T>C | CA397475989 | TUBB3 | c.932T>C (p.Leu311Pro) n.4353T>C c.716T>C (p.Leu239Pro) c.277+1805T>C (n.277+1805T>C) c.*1017T>C (n.*1017T>C) c.1973T>C (p.Leu658Pro) | |
| 16 | g.89935383T>G | CA397475986 | TUBB3 | c.932T>G (p.Leu311Arg) n.4353T>G c.716T>G (p.Leu239Arg) c.277+1805T>G (n.277+1805T>G) c.*1017T>G (n.*1017T>G) c.1973T>G (p.Leu658Arg) | |
| 16 | g.89935384G>A | CA8256185 | TUBB3 | c.933G>A (p.Leu311=) n.4354G>A c.717G>A (p.Leu239=) c.277+1806G>A (n.277+1806G>A) c.*1018G>A (n.*1018G>A) c.1974G>A (p.Leu658=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935384G>C | CA497381264 | TUBB3 | c.933G>C (p.Leu311=) n.4354G>C c.717G>C (p.Leu239=) c.277+1806G>C (n.277+1806G>C) c.*1018G>C (n.*1018G>C) c.1974G>C (p.Leu658=) | |
| 16 | g.89935384G= | CA2242020356 | TUBB3 | c.933G= (p.Leu311=) n.4354G= c.717G= (p.Leu239=) c.277+1806G= (n.277+1806G=) c.*1018G= (n.*1018G=) c.1974G= (p.Leu658=) | |
| 16 | g.89935384G>T | CA497381266 | TUBB3 | c.933G>T (p.Leu311=) n.4354G>T c.717G>T (p.Leu239=) c.277+1806G>T (n.277+1806G>T) c.*1018G>T (n.*1018G>T) c.1974G>T (p.Leu658=) | |
| 16 | g.89935385A>C | CA397475994 | TUBB3 | c.934A>C (p.Thr312Pro) n.4355A>C c.718A>C (p.Thr240Pro) c.277+1807A>C (n.277+1807A>C) c.*1019A>C (n.*1019A>C) c.1975A>C (p.Thr659Pro) | |
| 16 | g.89935385A>G | CA397475992 | TUBB3 | c.934A>G (p.Thr312Ala) n.4355A>G c.718A>G (p.Thr240Ala) c.277+1807A>G (n.277+1807A>G) c.*1019A>G (n.*1019A>G) c.1975A>G (p.Thr659Ala) | |
| 16 | g.89935385A>T | CA397475997 | TUBB3 | c.934A>T (p.Thr312Ser) n.4355A>T c.718A>T (p.Thr240Ser) c.277+1807A>T (n.277+1807A>T) c.*1019A>T (n.*1019A>T) c.1975A>T (p.Thr659Ser) | |
| 16 | g.89935386C>A | CA8256186 | TUBB3 | c.935C>A (p.Thr312Lys) n.4356C>A c.719C>A (p.Thr240Lys) c.277+1808C>A (n.277+1808C>A) c.*1020C>A (n.*1020C>A) c.1976C>A (p.Thr659Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935386C= | CA2242020359 | TUBB3 | c.935C= (p.Thr312=) n.4356C= c.719C= (p.Thr240=) c.277+1808C= (n.277+1808C=) c.*1020C= (n.*1020C=) c.1976C= (p.Thr659=) | |
| 16 | g.89935386C>G | CA397476001 | TUBB3 | c.935C>G (p.Thr312Arg) n.4356C>G c.719C>G (p.Thr240Arg) c.277+1808C>G (n.277+1808C>G) c.*1020C>G (n.*1020C>G) c.1976C>G (p.Thr659Arg) | |
| 16 | g.89935386C>T | CA397476003 | TUBB3 | c.935C>T (p.Thr312Met) n.4356C>T c.719C>T (p.Thr240Met) c.277+1808C>T (n.277+1808C>T) c.*1020C>T (n.*1020C>T) c.1976C>T (p.Thr659Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.89935387G>A | CA8256187 | TUBB3 | c.936G>A (p.Thr312=) n.4357G>A c.720G>A (p.Thr240=) c.277+1809G>A (n.277+1809G>A) c.*1021G>A (n.*1021G>A) c.1977G>A (p.Thr659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935387G>C | CA497381268 | TUBB3 | c.936G>C (p.Thr312=) n.4357G>C c.720G>C (p.Thr240=) c.277+1809G>C (n.277+1809G>C) c.*1021G>C (n.*1021G>C) c.1977G>C (p.Thr659=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935387G= | CA2242020362 | TUBB3 | c.936G= (p.Thr312=) n.4357G= c.720G= (p.Thr240=) c.277+1809G= (n.277+1809G=) c.*1021G= (n.*1021G=) c.1977G= (p.Thr659=) | |
| 16 | g.89935387G>T | CA497381272 | TUBB3 | c.936G>T (p.Thr312=) n.4357G>T c.720G>T (p.Thr240=) c.277+1809G>T (n.277+1809G>T) c.*1021G>T (n.*1021G>T) c.1977G>T (p.Thr659=) | COSMIC |
| 16 | g.89935388G>A | CA397476014 | TUBB3 | c.937G>A (p.Val313Met) n.4358G>A c.721G>A (p.Val241Met) c.277+1810G>A (n.277+1810G>A) c.*1022G>A (n.*1022G>A) c.1978G>A (p.Val660Met) | gnomAD v4 |
| 16 | g.89935388G>C | CA397476016 | TUBB3 | c.937G>C (p.Val313Leu) n.4358G>C c.721G>C (p.Val241Leu) c.277+1810G>C (n.277+1810G>C) c.*1022G>C (n.*1022G>C) c.1978G>C (p.Val660Leu) | |
| 16 | g.89935388G>T | CA397476019 | TUBB3 | c.937G>T (p.Val313Leu) n.4358G>T c.721G>T (p.Val241Leu) c.277+1810G>T (n.277+1810G>T) c.*1022G>T (n.*1022G>T) c.1978G>T (p.Val660Leu) | |
| 16 | g.89935389T>A | CA397476021 | TUBB3 | c.938T>A (p.Val313Glu) n.4359T>A c.722T>A (p.Val241Glu) c.277+1811T>A (n.277+1811T>A) c.*1023T>A (n.*1023T>A) c.1979T>A (p.Val660Glu) | |
| 16 | g.89935389T>C | CA397476022 | TUBB3 | c.938T>C (p.Val313Ala) n.4359T>C c.722T>C (p.Val241Ala) c.277+1811T>C (n.277+1811T>C) c.*1023T>C (n.*1023T>C) c.1979T>C (p.Val660Ala) | gnomAD v3 gnomAD v4 |
| 16 | g.89935389T>G | CA397476023 | TUBB3 | c.938T>G (p.Val313Gly) n.4359T>G c.722T>G (p.Val241Gly) c.277+1811T>G (n.277+1811T>G) c.*1023T>G (n.*1023T>G) c.1979T>G (p.Val660Gly) | |
| 16 | g.89935390G>A | CA497381274 | TUBB3 | c.939G>A (p.Val313=) n.4360G>A c.723G>A (p.Val241=) c.277+1812G>A (n.277+1812G>A) c.*1024G>A (n.*1024G>A) c.1980G>A (p.Val660=) | gnomAD v4 |
| 16 | g.89935390G>C | CA497381275 | TUBB3 | c.939G>C (p.Val313=) n.4360G>C c.723G>C (p.Val241=) c.277+1812G>C (n.277+1812G>C) c.*1024G>C (n.*1024G>C) c.1980G>C (p.Val660=) | dbSNP |
| 16 | g.89935390G= | CA2242020365 | TUBB3 | c.939G= (p.Val313=) n.4360G= c.723G= (p.Val241=) c.277+1812G= (n.277+1812G=) c.*1024G= (n.*1024G=) c.1980G= (p.Val660=) | |
| 16 | g.89935390G>T | CA497381276 | TUBB3 | c.939G>T (p.Val313=) n.4360G>T c.723G>T (p.Val241=) c.277+1812G>T (n.277+1812G>T) c.*1024G>T (n.*1024G>T) c.1980G>T (p.Val660=) | |
| 16 | g.89935391G>A | CA397476027 | TUBB3 | c.940G>A (p.Ala314Thr) n.4361G>A c.724G>A (p.Ala242Thr) c.277+1813G>A (n.277+1813G>A) c.*1025G>A (n.*1025G>A) c.1981G>A (p.Ala661Thr) | |
| 16 | g.89935391G>C | CA397476029 | TUBB3 | c.940G>C (p.Ala314Pro) n.4361G>C c.724G>C (p.Ala242Pro) c.277+1813G>C (n.277+1813G>C) c.*1025G>C (n.*1025G>C) c.1981G>C (p.Ala661Pro) | |
| 16 | g.89935391G>T | CA397476030 | TUBB3 | c.940G>T (p.Ala314Ser) n.4361G>T c.724G>T (p.Ala242Ser) c.277+1813G>T (n.277+1813G>T) c.*1025G>T (n.*1025G>T) c.1981G>T (p.Ala661Ser) | |
| 16 | g.89935392C>A | CA397476037 | TUBB3 | c.941C>A (p.Ala314Asp) n.4362C>A c.725C>A (p.Ala242Asp) c.277+1814C>A (n.277+1814C>A) c.*1026C>A (n.*1026C>A) c.1982C>A (p.Ala661Asp) | |
| 16 | g.89935392C= | CA2242020367 | TUBB3 | c.941C= (p.Ala314=) n.4362C= c.725C= (p.Ala242=) c.277+1814C= (n.277+1814C=) c.*1026C= (n.*1026C=) c.1982C= (p.Ala661=) | |
| 16 | g.89935392C>G | CA397476035 | TUBB3 | c.941C>G (p.Ala314Gly) n.4362C>G c.725C>G (p.Ala242Gly) c.277+1814C>G (n.277+1814C>G) c.*1026C>G (n.*1026C>G) c.1982C>G (p.Ala661Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89935392C>T | CA397476032 | TUBB3 | c.941C>T (p.Ala314Val) n.4362C>T c.725C>T (p.Ala242Val) c.277+1814C>T (n.277+1814C>T) c.*1026C>T (n.*1026C>T) c.1982C>T (p.Ala661Val) | |
| 16 | g.89935393del | CA980479058 | TUBB3 | c.942del (p.Thr315ProfsTer9) n.4363del c.726del (p.Thr243ProfsTer9) c.277+1815del (n.277+1815del) c.*1027del (n.*1027del) c.1983del (p.Thr662ProfsTer9) | gnomAD v3 gnomAD v4 |
| 16 | g.89935393C>A | CA497381283 | TUBB3 | c.942C>A (p.Ala314=) n.4363C>A c.726C>A (p.Ala242=) c.277+1815C>A (n.277+1815C>A) c.*1027C>A (n.*1027C>A) c.1983C>A (p.Ala661=) | |
| 16 | g.89935393C= | CA2242020368 | TUBB3 | c.942C= (p.Ala314=) n.4363C= c.726C= (p.Ala242=) c.277+1815C= (n.277+1815C=) c.*1027C= (n.*1027C=) c.1983C= (p.Ala661=) | |
| 16 | g.89935393C>G | CA497381284 | TUBB3 | c.942C>G (p.Ala314=) n.4363C>G c.726C>G (p.Ala242=) c.277+1815C>G (n.277+1815C>G) c.*1027C>G (n.*1027C>G) c.1983C>G (p.Ala661=) | |
| 16 | g.89935393C>T | CA497381285 | TUBB3 | c.942C>T (p.Ala314=) n.4363C>T c.726C>T (p.Ala242=) c.277+1815C>T (n.277+1815C>T) c.*1027C>T (n.*1027C>T) c.1983C>T (p.Ala661=) | dbSNP |
| 16 | g.89935394A= | CA2242020371 | TUBB3 | c.943A= (p.Thr315=) n.4364A= c.727A= (p.Thr243=) c.277+1816A= (n.277+1816A=) c.*1028A= (n.*1028A=) c.1984A= (p.Thr662=) | |
| 16 | g.89935394A>C | CA397476040 | TUBB3 | c.943A>C (p.Thr315Pro) n.4364A>C c.727A>C (p.Thr243Pro) c.277+1816A>C (n.277+1816A>C) c.*1028A>C (n.*1028A>C) c.1984A>C (p.Thr662Pro) | |
| 16 | g.89935394A>G | CA397476043 | TUBB3 | c.943A>G (p.Thr315Ala) n.4364A>G c.727A>G (p.Thr243Ala) c.277+1816A>G (n.277+1816A>G) c.*1028A>G (n.*1028A>G) c.1984A>G (p.Thr662Ala) | dbSNP gnomAD v4 |
| 16 | g.89935394A>T | CA397476045 | TUBB3 | c.943A>T (p.Thr315Ser) n.4364A>T c.727A>T (p.Thr243Ser) c.277+1816A>T (n.277+1816A>T) c.*1028A>T (n.*1028A>T) c.1984A>T (p.Thr662Ser) | |
| 16 | g.89935395C>A | CA397476047 | TUBB3 | c.944C>A (p.Thr315Asn) n.4365C>A c.728C>A (p.Thr243Asn) c.277+1817C>A (n.277+1817C>A) c.*1029C>A (n.*1029C>A) c.1985C>A (p.Thr662Asn) | |
| 16 | g.89935395C>G | CA397476049 | TUBB3 | c.944C>G (p.Thr315Ser) n.4365C>G c.728C>G (p.Thr243Ser) c.277+1817C>G (n.277+1817C>G) c.*1029C>G (n.*1029C>G) c.1985C>G (p.Thr662Ser) | |
| 16 | g.89935395C>T | CA397476051 | TUBB3 | c.944C>T (p.Thr315Ile) n.4365C>T c.728C>T (p.Thr243Ile) c.277+1817C>T (n.277+1817C>T) c.*1029C>T (n.*1029C>T) c.1985C>T (p.Thr662Ile) | |
| 16 | g.89935395_89935397del | CA980479063 | TUBB3 | c.944_946del (p.Thr315_Val316delinsMet) n.4365_4367del c.728_730del (p.Thr243_Val244delinsMet) c.277+1817_277+1819del (n.277+1817_277+1819del) c.*1029_*1031del (n.*1029_*1031del) c.1985_1987del (p.Thr662_Val663delinsMet) | gnomAD v3 gnomAD v4 |
| 16 | g.89935396C>A | CA497381287 | TUBB3 | c.945C>A (p.Thr315=) n.4366C>A c.729C>A (p.Thr243=) c.277+1818C>A (n.277+1818C>A) c.*1030C>A (n.*1030C>A) c.1986C>A (p.Thr662=) | |
| 16 | g.89935396C= | CA2242020373 | TUBB3 | c.945C= (p.Thr315=) n.4366C= c.729C= (p.Thr243=) c.277+1818C= (n.277+1818C=) c.*1030C= (n.*1030C=) c.1986C= (p.Thr662=) | |
| 16 | g.89935396C>G | CA497381289 | TUBB3 | c.945C>G (p.Thr315=) n.4366C>G c.729C>G (p.Thr243=) c.277+1818C>G (n.277+1818C>G) c.*1030C>G (n.*1030C>G) c.1986C>G (p.Thr662=) | |
| 16 | g.89935396C>T | CA8256188 | TUBB3 | c.945C>T (p.Thr315=) n.4366C>T c.729C>T (p.Thr243=) c.277+1818C>T (n.277+1818C>T) c.*1030C>T (n.*1030C>T) c.1986C>T (p.Thr662=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935397G>A | CA207656 | TUBB3 | c.946G>A (p.Val316Met) n.4367G>A c.730G>A (p.Val244Met) c.277+1819G>A (n.277+1819G>A) c.*1031G>A (n.*1031G>A) c.1987G>A (p.Val663Met) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89935397G>C | CA397476056 | TUBB3 | c.946G>C (p.Val316Leu) n.4367G>C c.730G>C (p.Val244Leu) c.277+1819G>C (n.277+1819G>C) c.*1031G>C (n.*1031G>C) c.1987G>C (p.Val663Leu) | gnomAD v4 |
| 16 | g.89935397G= | CA2242020380 | TUBB3 | c.946G= (p.Val316=) n.4367G= c.730G= (p.Val244=) c.277+1819G= (n.277+1819G=) c.*1031G= (n.*1031G=) c.1987G= (p.Val663=) | |
| 16 | g.89935397G>T | CA397476058 | TUBB3 | c.946G>T (p.Val316Leu) n.4367G>T c.730G>T (p.Val244Leu) c.277+1819G>T (n.277+1819G>T) c.*1031G>T (n.*1031G>T) c.1987G>T (p.Val663Leu) | |
| 16 | g.89935398T>A | CA397476059 | TUBB3 | c.947T>A (p.Val316Glu) n.4368T>A c.731T>A (p.Val244Glu) c.277+1820T>A (n.277+1820T>A) c.*1032T>A (n.*1032T>A) c.1988T>A (p.Val663Glu) | |
| 16 | g.89935398T>C | CA397476061 | TUBB3 | c.947T>C (p.Val316Ala) n.4368T>C c.731T>C (p.Val244Ala) c.277+1820T>C (n.277+1820T>C) c.*1032T>C (n.*1032T>C) c.1988T>C (p.Val663Ala) | |
| 16 | g.89935398T>G | CA397476064 | TUBB3 | c.947T>G (p.Val316Gly) n.4368T>G c.731T>G (p.Val244Gly) c.277+1820T>G (n.277+1820T>G) c.*1032T>G (n.*1032T>G) c.1988T>G (p.Val663Gly) | dbSNP |
| 16 | g.89935398T= | CA2242020383 | TUBB3 | c.947T= (p.Val316=) n.4368T= c.731T= (p.Val244=) c.277+1820T= (n.277+1820T=) c.*1032T= (n.*1032T=) c.1988T= (p.Val663=) | |
| 16 | g.89935399G>A | CA497381293 | TUBB3 | c.948G>A (p.Val316=) n.4369G>A c.732G>A (p.Val244=) c.277+1821G>A (n.277+1821G>A) c.*1033G>A (n.*1033G>A) c.1989G>A (p.Val663=) | |
| 16 | g.89935399G>C | CA497381294 | TUBB3 | c.948G>C (p.Val316=) n.4369G>C c.732G>C (p.Val244=) c.277+1821G>C (n.277+1821G>C) c.*1033G>C (n.*1033G>C) c.1989G>C (p.Val663=) | |
| 16 | g.89935399G>T | CA497381295 | TUBB3 | c.948G>T (p.Val316=) n.4369G>T c.732G>T (p.Val244=) c.277+1821G>T (n.277+1821G>T) c.*1033G>T (n.*1033G>T) c.1989G>T (p.Val663=) | |
| 16 | g.89935399_89935400insCTTC | CA980479071 | TUBB3 | c.948_949insCTTC (p.Phe317LeufsTer?) n.4369_4370insCTTC c.732_733insCTTC (p.Phe245LeufsTer?) c.277+1821_277+1822insCTTC (n.277+1821_277+1822insCTTC) c.*1033_*1034insCTTC (n.*1033_*1034insCTTC) c.1989_1990insCTTC (p.Phe664LeufsTer?) | gnomAD v3 gnomAD v4 |
| 16 | g.89935400T>A | CA397476067 | TUBB3 | c.949T>A (p.Phe317Ile) n.4370T>A c.733T>A (p.Phe245Ile) c.277+1822T>A (n.277+1822T>A) c.*1034T>A (n.*1034T>A) c.1990T>A (p.Phe664Ile) | |
| 16 | g.89935400T>C | CA397476069 | TUBB3 | c.949T>C (p.Phe317Leu) n.4370T>C c.733T>C (p.Phe245Leu) c.277+1822T>C (n.277+1822T>C) c.*1034T>C (n.*1034T>C) c.1990T>C (p.Phe664Leu) | |
| 16 | g.89935400T>G | CA397476065 | TUBB3 | c.949T>G (p.Phe317Val) n.4370T>G c.733T>G (p.Phe245Val) c.277+1822T>G (n.277+1822T>G) c.*1034T>G (n.*1034T>G) c.1990T>G (p.Phe664Val) | |
| 16 | g.89935401T>A | CA397476071 | TUBB3 | c.950T>A (p.Phe317Tyr) n.4371T>A c.734T>A (p.Phe245Tyr) c.277+1823T>A (n.277+1823T>A) c.*1035T>A (n.*1035T>A) c.1991T>A (p.Phe664Tyr) | |
| 16 | g.89935401T>C | CA397476073 | TUBB3 | c.950T>C (p.Phe317Ser) n.4371T>C c.734T>C (p.Phe245Ser) c.277+1823T>C (n.277+1823T>C) c.*1035T>C (n.*1035T>C) c.1991T>C (p.Phe664Ser) | |
| 16 | g.89935401T>G | CA397476075 | TUBB3 | c.950T>G (p.Phe317Cys) n.4371T>G c.734T>G (p.Phe245Cys) c.277+1823T>G (n.277+1823T>G) c.*1035T>G (n.*1035T>G) c.1991T>G (p.Phe664Cys) | |
| 16 | g.89935402C>A | CA397476078 | TUBB3 | c.951C>A (p.Phe317Leu) n.4372C>A c.735C>A (p.Phe245Leu) c.277+1824C>A (n.277+1824C>A) c.*1036C>A (n.*1036C>A) c.1992C>A (p.Phe664Leu) | |
| 16 | g.89935402C>G | CA397476081 | TUBB3 | c.951C>G (p.Phe317Leu) n.4372C>G c.735C>G (p.Phe245Leu) c.277+1824C>G (n.277+1824C>G) c.*1036C>G (n.*1036C>G) c.1992C>G (p.Phe664Leu) | |
| 16 | g.89935402C>T | CA497381301 | TUBB3 | c.951C>T (p.Phe317=) n.4372C>T c.735C>T (p.Phe245=) c.277+1824C>T (n.277+1824C>T) c.*1036C>T (n.*1036C>T) c.1992C>T (p.Phe664=) | gnomAD v4 COSMIC |
| 16 | g.89935403C>A | CA8256189 | TUBB3 | c.952C>A (p.Arg318=) n.4373C>A c.736C>A (p.Arg246=) c.277+1825C>A (n.277+1825C>A) c.*1037C>A (n.*1037C>A) c.1993C>A (p.Arg665=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935403C= | CA2242020386 | TUBB3 | c.952C= (p.Arg318=) n.4373C= c.736C= (p.Arg246=) c.277+1825C= (n.277+1825C=) c.*1037C= (n.*1037C=) c.1993C= (p.Arg665=) | |
| 16 | g.89935403C>G | CA397476083 | TUBB3 | c.952C>G (p.Arg318Gly) n.4373C>G c.736C>G (p.Arg246Gly) c.277+1825C>G (n.277+1825C>G) c.*1037C>G (n.*1037C>G) c.1993C>G (p.Arg665Gly) | |
| 16 | g.89935403C>T | CA8256190 | TUBB3 | c.952C>T (p.Arg318Trp) n.4373C>T c.736C>T (p.Arg246Trp) c.277+1825C>T (n.277+1825C>T) c.*1037C>T (n.*1037C>T) c.1993C>T (p.Arg665Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89935404G>A | CA397476100 | TUBB3 | c.953G>A (p.Arg318Gln) n.4374G>A c.737G>A (p.Arg246Gln) c.277+1826G>A (n.277+1826G>A) c.*1038G>A (n.*1038G>A) c.1994G>A (p.Arg665Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935404G>C | CA397476101 | TUBB3 | c.953G>C (p.Arg318Pro) n.4374G>C c.737G>C (p.Arg246Pro) c.277+1826G>C (n.277+1826G>C) c.*1038G>C (n.*1038G>C) c.1994G>C (p.Arg665Pro) | |
| 16 | g.89935404G= | CA2242020391 | TUBB3 | c.953G= (p.Arg318=) n.4374G= c.737G= (p.Arg246=) c.277+1826G= (n.277+1826G=) c.*1038G= (n.*1038G=) c.1994G= (p.Arg665=) | |
| 16 | g.89935404G>T | CA397476103 | TUBB3 | c.953G>T (p.Arg318Leu) n.4374G>T c.737G>T (p.Arg246Leu) c.277+1826G>T (n.277+1826G>T) c.*1038G>T (n.*1038G>T) c.1994G>T (p.Arg665Leu) | |
| 16 | g.89935405G>A | CA497381302 | TUBB3 | c.954G>A (p.Arg318=) n.4375G>A c.738G>A (p.Arg246=) c.277+1827G>A (n.277+1827G>A) c.*1039G>A (n.*1039G>A) c.1995G>A (p.Arg665=) | gnomAD v3 gnomAD v4 |
| 16 | g.89935405G>C | CA497381303 | TUBB3 | c.954G>C (p.Arg318=) n.4375G>C c.738G>C (p.Arg246=) c.277+1827G>C (n.277+1827G>C) c.*1039G>C (n.*1039G>C) c.1995G>C (p.Arg665=) | |
| 16 | g.89935405G= | CA2242020395 | TUBB3 | c.954G= (p.Arg318=) n.4375G= c.738G= (p.Arg246=) c.277+1827G= (n.277+1827G=) c.*1039G= (n.*1039G=) c.1995G= (p.Arg665=) | |
| 16 | g.89935405G>T | CA497381304 | TUBB3 | c.954G>T (p.Arg318=) n.4375G>T c.738G>T (p.Arg246=) c.277+1827G>T (n.277+1827G>T) c.*1039G>T (n.*1039G>T) c.1995G>T (p.Arg665=) | dbSNP |
| 16 | g.89935406G>A | CA286619266 | TUBB3 | c.955G>A (p.Gly319Ser) n.4376G>A c.739G>A (p.Gly247Ser) c.277+1828G>A (n.277+1828G>A) c.*1040G>A (n.*1040G>A) c.1996G>A (p.Gly666Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935406G>C | CA397476107 | TUBB3 | c.955G>C (p.Gly319Arg) n.4376G>C c.739G>C (p.Gly247Arg) c.277+1828G>C (n.277+1828G>C) c.*1040G>C (n.*1040G>C) c.1996G>C (p.Gly666Arg) | |
| 16 | g.89935406G= | CA2242020398 | TUBB3 | c.955G= (p.Gly319=) n.4376G= c.739G= (p.Gly247=) c.277+1828G= (n.277+1828G=) c.*1040G= (n.*1040G=) c.1996G= (p.Gly666=) | |
| 16 | g.89935406G>T | CA397476106 | TUBB3 | c.955G>T (p.Gly319Cys) n.4376G>T c.739G>T (p.Gly247Cys) c.277+1828G>T (n.277+1828G>T) c.*1040G>T (n.*1040G>T) c.1996G>T (p.Gly666Cys) | |
| 16 | g.89935407G>A | CA397476108 | TUBB3 | c.956G>A (p.Gly319Asp) n.4377G>A c.740G>A (p.Gly247Asp) c.277+1829G>A (n.277+1829G>A) c.*1041G>A (n.*1041G>A) c.1997G>A (p.Gly666Asp) | |
| 16 | g.89935407G>C | CA397476111 | TUBB3 | c.956G>C (p.Gly319Ala) n.4377G>C c.740G>C (p.Gly247Ala) c.277+1829G>C (n.277+1829G>C) c.*1041G>C (n.*1041G>C) c.1997G>C (p.Gly666Ala) | |
| 16 | g.89935407G>T | CA397476113 | TUBB3 | c.956G>T (p.Gly319Val) n.4377G>T c.740G>T (p.Gly247Val) c.277+1829G>T (n.277+1829G>T) c.*1041G>T (n.*1041G>T) c.1997G>T (p.Gly666Val) | |
| 16 | g.89935408C>A | CA497381309 | TUBB3 | c.957C>A (p.Gly319=) n.4378C>A c.741C>A (p.Gly247=) c.277+1830C>A (n.277+1830C>A) c.*1042C>A (n.*1042C>A) c.1998C>A (p.Gly666=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935408C= | CA2242020401 | TUBB3 | c.957C= (p.Gly319=) n.4378C= c.741C= (p.Gly247=) c.277+1830C= (n.277+1830C=) c.*1042C= (n.*1042C=) c.1998C= (p.Gly666=) | |
| 16 | g.89935408C>G | CA497381311 | TUBB3 | c.957C>G (p.Gly319=) n.4378C>G c.741C>G (p.Gly247=) c.277+1830C>G (n.277+1830C>G) c.*1042C>G (n.*1042C>G) c.1998C>G (p.Gly666=) | |
| 16 | g.89935408C>T | CA497381310 | TUBB3 | c.957C>T (p.Gly319=) n.4378C>T c.741C>T (p.Gly247=) c.277+1830C>T (n.277+1830C>T) c.*1042C>T (n.*1042C>T) c.1998C>T (p.Gly666=) | |
| 16 | g.89935408_89935411del | CA980479074 | TUBB3 | c.957_960del (p.Arg320CysfsTer3) n.4378_4381del c.741_744del (p.Arg248CysfsTer3) c.277+1830_277+1833del (n.277+1830_277+1833del) c.*1042_*1045del (n.*1042_*1045del) c.1998_2001del (p.Arg667CysfsTer3) | gnomAD v3 gnomAD v4 |
| 16 | g.89935409C>A | CA397476116 | TUBB3 | c.958C>A (p.Arg320Ser) n.4379C>A c.742C>A (p.Arg248Ser) c.277+1831C>A (n.277+1831C>A) c.*1043C>A (n.*1043C>A) c.1999C>A (p.Arg667Ser) | COSMIC |
| 16 | g.89935409C= | CA2242020403 | TUBB3 | c.958C= (p.Arg320=) n.4379C= c.742C= (p.Arg248=) c.277+1831C= (n.277+1831C=) c.*1043C= (n.*1043C=) c.1999C= (p.Arg667=) | |
| 16 | g.89935409C>G | CA397476118 | TUBB3 | c.958C>G (p.Arg320Gly) n.4379C>G c.742C>G (p.Arg248Gly) c.277+1831C>G (n.277+1831C>G) c.*1043C>G (n.*1043C>G) c.1999C>G (p.Arg667Gly) | |
| 16 | g.89935409C>T | CA397476121 | TUBB3 | c.958C>T (p.Arg320Cys) n.4379C>T c.742C>T (p.Arg248Cys) c.277+1831C>T (n.277+1831C>T) c.*1043C>T (n.*1043C>T) c.1999C>T (p.Arg667Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.89935410G>A | CA8256191 | TUBB3 | c.959G>A (p.Arg320His) n.4380G>A c.743G>A (p.Arg248His) c.277+1832G>A (n.277+1832G>A) c.*1044G>A (n.*1044G>A) c.2000G>A (p.Arg667His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89935410G>C | CA397476125 | TUBB3 | c.959G>C (p.Arg320Pro) n.4380G>C c.743G>C (p.Arg248Pro) c.277+1832G>C (n.277+1832G>C) c.*1044G>C (n.*1044G>C) c.2000G>C (p.Arg667Pro) | |
| 16 | g.89935410G= | CA2242020406 | TUBB3 | c.959G= (p.Arg320=) n.4380G= c.743G= (p.Arg248=) c.277+1832G= (n.277+1832G=) c.*1044G= (n.*1044G=) c.2000G= (p.Arg667=) | |
| 16 | g.89935410G>T | CA397476128 | TUBB3 | c.959G>T (p.Arg320Leu) n.4380G>T c.743G>T (p.Arg248Leu) c.277+1832G>T (n.277+1832G>T) c.*1044G>T (n.*1044G>T) c.2000G>T (p.Arg667Leu) | ClinVar gnomAD v4 |
| 16 | g.89935411C>A | CA497381312 | TUBB3 | c.960C>A (p.Arg320=) n.4381C>A c.744C>A (p.Arg248=) c.277+1833C>A (n.277+1833C>A) c.*1045C>A (n.*1045C>A) c.2001C>A (p.Arg667=) | |
| 16 | g.89935411C= | CA2242020408 | TUBB3 | c.960C= (p.Arg320=) n.4381C= c.744C= (p.Arg248=) c.277+1833C= (n.277+1833C=) c.*1045C= (n.*1045C=) c.2001C= (p.Arg667=) | |
| 16 | g.89935411C>G | CA497381313 | TUBB3 | c.960C>G (p.Arg320=) n.4381C>G c.744C>G (p.Arg248=) c.277+1833C>G (n.277+1833C>G) c.*1045C>G (n.*1045C>G) c.2001C>G (p.Arg667=) | dbSNP |
| 16 | g.89935411C>T | CA497381315 | TUBB3 | c.960C>T (p.Arg320=) n.4381C>T c.744C>T (p.Arg248=) c.277+1833C>T (n.277+1833C>T) c.*1045C>T (n.*1045C>T) c.2001C>T (p.Arg667=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89935412A>C | CA397476131 | TUBB3 | c.961A>C (p.Met321Leu) n.4382A>C c.745A>C (p.Met249Leu) c.277+1834A>C (n.277+1834A>C) c.*1046A>C (n.*1046A>C) c.2002A>C (p.Met668Leu) | |
| 16 | g.89935412A>G | CA397476133 | TUBB3 | c.961A>G (p.Met321Val) n.4382A>G c.745A>G (p.Met249Val) c.277+1834A>G (n.277+1834A>G) c.*1046A>G (n.*1046A>G) c.2002A>G (p.Met668Val) | |
| 16 | g.89935412A>T | CA397476136 | TUBB3 | c.961A>T (p.Met321Leu) n.4382A>T c.745A>T (p.Met249Leu) c.277+1834A>T (n.277+1834A>T) c.*1046A>T (n.*1046A>T) c.2002A>T (p.Met668Leu) | |
| 16 | g.89935412_89935413insAAGG | CA980479082 | TUBB3 | c.961_962insAAGG (p.Met321LysfsTer?) n.4382_4383insAAGG c.745_746insAAGG (p.Met249LysfsTer?) c.277+1834_277+1835insAAGG (n.277+1834_277+1835insAAGG) c.*1046_*1047insAAGG (n.*1046_*1047insAAGG) c.2002_2003insAAGG (p.Met668LysfsTer?) | gnomAD v3 gnomAD v4 |
| 16 | g.89935413T>A | CA397476139 | TUBB3 | c.962T>A (p.Met321Lys) n.4383T>A c.746T>A (p.Met249Lys) c.277+1835T>A (n.277+1835T>A) c.*1047T>A (n.*1047T>A) c.2003T>A (p.Met668Lys) | |
| 16 | g.89935413T>C | CA397476138 | TUBB3 | c.962T>C (p.Met321Thr) n.4383T>C c.746T>C (p.Met249Thr) c.277+1835T>C (n.277+1835T>C) c.*1047T>C (n.*1047T>C) c.2003T>C (p.Met668Thr) | |
| 16 | g.89935413T>G | CA397476137 | TUBB3 | c.962T>G (p.Met321Arg) n.4383T>G c.746T>G (p.Met249Arg) c.277+1835T>G (n.277+1835T>G) c.*1047T>G (n.*1047T>G) c.2003T>G (p.Met668Arg) | |
| 16 | g.89935414G>A | CA397476140 | TUBB3 | c.963G>A (p.Met321Ile) n.4384G>A c.747G>A (p.Met249Ile) c.277+1836G>A (n.277+1836G>A) c.*1048G>A (n.*1048G>A) c.2004G>A (p.Met668Ile) | ClinVar dbSNP |
| 16 | g.89935414G>C | CA397476144 | TUBB3 | c.963G>C (p.Met321Ile) n.4384G>C c.747G>C (p.Met249Ile) c.277+1836G>C (n.277+1836G>C) c.*1048G>C (n.*1048G>C) c.2004G>C (p.Met668Ile) | |
| 16 | g.89935414G>T | CA397476142 | TUBB3 | c.963G>T (p.Met321Ile) n.4384G>T c.747G>T (p.Met249Ile) c.277+1836G>T (n.277+1836G>T) c.*1048G>T (n.*1048G>T) c.2004G>T (p.Met668Ile) | |
| 16 | g.89935415T>A | CA397476145 | TUBB3 | c.964T>A (p.Ser322Thr) n.4385T>A c.748T>A (p.Ser250Thr) c.277+1837T>A (n.277+1837T>A) c.*1049T>A (n.*1049T>A) c.2005T>A (p.Ser669Thr) | |
| 16 | g.89935415T>C | CA397476146 | TUBB3 | c.964T>C (p.Ser322Pro) n.4385T>C c.748T>C (p.Ser250Pro) c.277+1837T>C (n.277+1837T>C) c.*1049T>C (n.*1049T>C) c.2005T>C (p.Ser669Pro) | |
| 16 | g.89935415T>G | CA397476148 | TUBB3 | c.964T>G (p.Ser322Ala) n.4385T>G c.748T>G (p.Ser250Ala) c.277+1837T>G (n.277+1837T>G) c.*1049T>G (n.*1049T>G) c.2005T>G (p.Ser669Ala) | |
| 16 | g.89935416C>A | CA397476150 | TUBB3 | c.965C>A (p.Ser322Tyr) n.4386C>A c.749C>A (p.Ser250Tyr) c.277+1838C>A (n.277+1838C>A) c.*1050C>A (n.*1050C>A) c.2006C>A (p.Ser669Tyr) | |
| 16 | g.89935416C>G | CA397476153 | TUBB3 | c.965C>G (p.Ser322Cys) n.4386C>G c.749C>G (p.Ser250Cys) c.277+1838C>G (n.277+1838C>G) c.*1050C>G (n.*1050C>G) c.2006C>G (p.Ser669Cys) | |
| 16 | g.89935416C>T | CA397476154 | TUBB3 | c.965C>T (p.Ser322Phe) n.4386C>T c.749C>T (p.Ser250Phe) c.277+1838C>T (n.277+1838C>T) c.*1050C>T (n.*1050C>T) c.2006C>T (p.Ser669Phe) | |
| 16 | g.89935417C>A | CA497381323 | TUBB3 | c.966C>A (p.Ser322=) n.4387C>A c.750C>A (p.Ser250=) c.277+1839C>A (n.277+1839C>A) c.*1051C>A (n.*1051C>A) c.2007C>A (p.Ser669=) | |
| 16 | g.89935417C= | CA2242020413 | TUBB3 | c.966C= (p.Ser322=) n.4387C= c.750C= (p.Ser250=) c.277+1839C= (n.277+1839C=) c.*1051C= (n.*1051C=) c.2007C= (p.Ser669=) | |
| 16 | g.89935417C>G | CA497381324 | TUBB3 | c.966C>G (p.Ser322=) n.4387C>G c.750C>G (p.Ser250=) c.277+1839C>G (n.277+1839C>G) c.*1051C>G (n.*1051C>G) c.2007C>G (p.Ser669=) | gnomAD v3 gnomAD v4 |
| 16 | g.89935417C>T | CA286619270 | TUBB3 | c.966C>T (p.Ser322=) n.4387C>T c.750C>T (p.Ser250=) c.277+1839C>T (n.277+1839C>T) c.*1051C>T (n.*1051C>T) c.2007C>T (p.Ser669=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89935418A= | CA2242020416 | TUBB3 | c.967A= (p.Met323=) n.4388A= c.751A= (p.Met251=) c.277+1840A= (n.277+1840A=) c.*1052A= (n.*1052A=) c.2008A= (p.Met670=) | |
| 16 | g.89935418A>C | CA397476156 | TUBB3 | c.967A>C (p.Met323Leu) n.4388A>C c.751A>C (p.Met251Leu) c.277+1840A>C (n.277+1840A>C) c.*1052A>C (n.*1052A>C) c.2008A>C (p.Met670Leu) | |
| 16 | g.89935418A>G | CA10575548 | TUBB3 | c.967A>G (p.Met323Val) n.4388A>G c.751A>G (p.Met251Val) c.277+1840A>G (n.277+1840A>G) c.*1052A>G (n.*1052A>G) c.2008A>G (p.Met670Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89935418A>T | CA397476157 | TUBB3 | c.967A>T (p.Met323Leu) n.4388A>T c.751A>T (p.Met251Leu) c.277+1840A>T (n.277+1840A>T) c.*1052A>T (n.*1052A>T) c.2008A>T (p.Met670Leu) | |
| 16 | g.89935419T>A | CA397476164 | TUBB3 | c.968T>A (p.Met323Lys) n.4389T>A c.752T>A (p.Met251Lys) c.277+1841T>A (n.277+1841T>A) c.*1053T>A (n.*1053T>A) c.2009T>A (p.Met670Lys) | |
| 16 | g.89935419T>C | CA397476162 | TUBB3 | c.968T>C (p.Met323Thr) n.4389T>C c.752T>C (p.Met251Thr) c.277+1841T>C (n.277+1841T>C) c.*1053T>C (n.*1053T>C) c.2009T>C (p.Met670Thr) | |
| 16 | g.89935419T>G | CA397476160 | TUBB3 | c.968T>G (p.Met323Arg) n.4389T>G c.752T>G (p.Met251Arg) c.277+1841T>G (n.277+1841T>G) c.*1053T>G (n.*1053T>G) c.2009T>G (p.Met670Arg) | |
| 16 | g.89935420G>A | CA397476167 | TUBB3 | c.969G>A (p.Met323Ile) n.4390G>A c.753G>A (p.Met251Ile) c.277+1842G>A (n.277+1842G>A) c.*1054G>A (n.*1054G>A) c.2010G>A (p.Met670Ile) | |
| 16 | g.89935420G>C | CA397476169 | TUBB3 | c.969G>C (p.Met323Ile) n.4390G>C c.753G>C (p.Met251Ile) c.277+1842G>C (n.277+1842G>C) c.*1054G>C (n.*1054G>C) c.2010G>C (p.Met670Ile) | gnomAD v3 gnomAD v4 |
| 16 | g.89935420G>T | CA397476171 | TUBB3 | c.969G>T (p.Met323Ile) n.4390G>T c.753G>T (p.Met251Ile) c.277+1842G>T (n.277+1842G>T) c.*1054G>T (n.*1054G>T) c.2010G>T (p.Met670Ile) | |
| 16 | g.89935421A>C | CA397476174 | TUBB3 | c.970A>C (p.Lys324Gln) n.4391A>C c.754A>C (p.Lys252Gln) c.277+1843A>C (n.277+1843A>C) c.*1055A>C (n.*1055A>C) c.2011A>C (p.Lys671Gln) | ClinVar |
| 16 | g.89935421A>G | CA397476176 | TUBB3 | c.970A>G (p.Lys324Glu) n.4391A>G c.754A>G (p.Lys252Glu) c.277+1843A>G (n.277+1843A>G) c.*1055A>G (n.*1055A>G) c.2011A>G (p.Lys671Glu) | |
| 16 | g.89935421A>T | CA397476179 | TUBB3 | c.970A>T (p.Lys324Ter) n.4391A>T c.754A>T (p.Lys252Ter) c.277+1843A>T (n.277+1843A>T) c.*1055A>T (n.*1055A>T) c.2011A>T (p.Lys671Ter) | |
| 16 | g.89935422A>C | CA397476182 | TUBB3 | c.971A>C (p.Lys324Thr) n.4392A>C c.755A>C (p.Lys252Thr) c.277+1844A>C (n.277+1844A>C) c.*1056A>C (n.*1056A>C) c.2012A>C (p.Lys671Thr) | |
| 16 | g.89935422A>G | CA397476183 | TUBB3 | c.971A>G (p.Lys324Arg) n.4392A>G c.755A>G (p.Lys252Arg) c.277+1844A>G (n.277+1844A>G) c.*1056A>G (n.*1056A>G) c.2012A>G (p.Lys671Arg) | |
| 16 | g.89935422A>T | CA397476185 | TUBB3 | c.971A>T (p.Lys324Met) n.4392A>T c.755A>T (p.Lys252Met) c.277+1844A>T (n.277+1844A>T) c.*1056A>T (n.*1056A>T) c.2012A>T (p.Lys671Met) | |
| 16 | g.89935423G>A | CA286619274 | TUBB3 | c.972G>A (p.Lys324=) n.4393G>A c.756G>A (p.Lys252=) c.277+1845G>A (n.277+1845G>A) c.*1057G>A (n.*1057G>A) c.2013G>A (p.Lys671=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89935423G>C | CA397476190 | TUBB3 | c.972G>C (p.Lys324Asn) n.4393G>C c.756G>C (p.Lys252Asn) c.277+1845G>C (n.277+1845G>C) c.*1057G>C (n.*1057G>C) c.2013G>C (p.Lys671Asn) | |
| 16 | g.89935423G= | CA2242020422 | TUBB3 | c.972G= (p.Lys324=) n.4393G= c.756G= (p.Lys252=) c.277+1845G= (n.277+1845G=) c.*1057G= (n.*1057G=) c.2013G= (p.Lys671=) | |
| 16 | g.89935423G>T | CA397476197 | TUBB3 | c.972G>T (p.Lys324Asn) n.4393G>T c.756G>T (p.Lys252Asn) c.277+1845G>T (n.277+1845G>T) c.*1057G>T (n.*1057G>T) c.2013G>T (p.Lys671Asn) | |
| 16 | g.89935424G>A | CA397476200 | TUBB3 | c.973G>A (p.Glu325Lys) n.4394G>A c.757G>A (p.Glu253Lys) c.277+1846G>A (n.277+1846G>A) c.*1058G>A (n.*1058G>A) c.2014G>A (p.Glu672Lys) | |
| 16 | g.89935424G>C | CA397476202 | TUBB3 | c.973G>C (p.Glu325Gln) n.4394G>C c.757G>C (p.Glu253Gln) c.277+1846G>C (n.277+1846G>C) c.*1058G>C (n.*1058G>C) c.2014G>C (p.Glu672Gln) | COSMIC |
| 16 | g.89935424G>T | CA397476199 | TUBB3 | c.973G>T (p.Glu325Ter) n.4394G>T c.757G>T (p.Glu253Ter) c.277+1846G>T (n.277+1846G>T) c.*1058G>T (n.*1058G>T) c.2014G>T (p.Glu672Ter) | |
| 16 | g.89935425A>C | CA397476204 | TUBB3 | c.974A>C (p.Glu325Ala) n.4395A>C c.758A>C (p.Glu253Ala) c.277+1847A>C (n.277+1847A>C) c.*1059A>C (n.*1059A>C) c.2015A>C (p.Glu672Ala) | |
| 16 | g.89935425A>G | CA397476206 | TUBB3 | c.974A>G (p.Glu325Gly) n.4395A>G c.758A>G (p.Glu253Gly) c.277+1847A>G (n.277+1847A>G) c.*1059A>G (n.*1059A>G) c.2015A>G (p.Glu672Gly) | |
| 16 | g.89935425A>T | CA397476208 | TUBB3 | c.974A>T (p.Glu325Val) n.4395A>T c.758A>T (p.Glu253Val) c.277+1847A>T (n.277+1847A>T) c.*1059A>T (n.*1059A>T) c.2015A>T (p.Glu672Val) | |
| 16 | g.89935426G>A | CA286619275 | TUBB3 | c.975G>A (p.Glu325=) n.4396G>A c.759G>A (p.Glu253=) c.277+1848G>A (n.277+1848G>A) c.*1060G>A (n.*1060G>A) c.2016G>A (p.Glu672=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89935426G>C | CA397476212 | TUBB3 | c.975G>C (p.Glu325Asp) n.4396G>C c.759G>C (p.Glu253Asp) c.277+1848G>C (n.277+1848G>C) c.*1060G>C (n.*1060G>C) c.2016G>C (p.Glu672Asp) | |
| 16 | g.89935426G= | CA2242020427 | TUBB3 | c.975G= (p.Glu325=) n.4396G= c.759G= (p.Glu253=) c.277+1848G= (n.277+1848G=) c.*1060G= (n.*1060G=) c.2016G= (p.Glu672=) | |
| 16 | g.89935426G>T | CA397476215 | TUBB3 | c.975G>T (p.Glu325Asp) n.4396G>T c.759G>T (p.Glu253Asp) c.277+1848G>T (n.277+1848G>T) c.*1060G>T (n.*1060G>T) c.2016G>T (p.Glu672Asp) | |
| 16 | g.89935427G>A | CA397476219 | TUBB3 | c.976G>A (p.Val326Met) n.4397G>A c.760G>A (p.Val254Met) c.277+1849G>A (n.277+1849G>A) c.*1061G>A (n.*1061G>A) c.2017G>A (p.Val673Met) | |
| 16 | g.89935427G>C | CA397476220 | TUBB3 | c.976G>C (p.Val326Leu) n.4397G>C c.760G>C (p.Val254Leu) c.277+1849G>C (n.277+1849G>C) c.*1061G>C (n.*1061G>C) c.2017G>C (p.Val673Leu) | |
| 16 | g.89935427G>T | CA397476222 | TUBB3 | c.976G>T (p.Val326Leu) n.4397G>T c.760G>T (p.Val254Leu) c.277+1849G>T (n.277+1849G>T) c.*1061G>T (n.*1061G>T) c.2017G>T (p.Val673Leu) | |
| 16 | g.89935428T>A | CA397476225 | TUBB3 | c.977T>A (p.Val326Glu) n.4398T>A c.761T>A (p.Val254Glu) c.277+1850T>A (n.277+1850T>A) c.*1062T>A (n.*1062T>A) c.2018T>A (p.Val673Glu) | |
| 16 | g.89935428T>C | CA397476228 | TUBB3 | c.977T>C (p.Val326Ala) n.4398T>C c.761T>C (p.Val254Ala) c.277+1850T>C (n.277+1850T>C) c.*1062T>C (n.*1062T>C) c.2018T>C (p.Val673Ala) | |
| 16 | g.89935428T>G | CA397476229 | TUBB3 | c.977T>G (p.Val326Gly) n.4398T>G c.761T>G (p.Val254Gly) c.277+1850T>G (n.277+1850T>G) c.*1062T>G (n.*1062T>G) c.2018T>G (p.Val673Gly) | dbSNP |
| 16 | g.89935428T= | CA2242020431 | TUBB3 | c.977T= (p.Val326=) n.4398T= c.761T= (p.Val254=) c.277+1850T= (n.277+1850T=) c.*1062T= (n.*1062T=) c.2018T= (p.Val673=) | |
| 16 | g.89935429G>A | CA497381341 | TUBB3 | c.978G>A (p.Val326=) n.4399G>A c.762G>A (p.Val254=) c.277+1851G>A (n.277+1851G>A) c.*1063G>A (n.*1063G>A) c.2019G>A (p.Val673=) | |
| 16 | g.89935429G>C | CA497381343 | TUBB3 | c.978G>C (p.Val326=) n.4399G>C c.762G>C (p.Val254=) c.277+1851G>C (n.277+1851G>C) c.*1063G>C (n.*1063G>C) c.2019G>C (p.Val673=) | |
| 16 | g.89935429G>T | CA497381345 | TUBB3 | c.978G>T (p.Val326=) n.4399G>T c.762G>T (p.Val254=) c.277+1851G>T (n.277+1851G>T) c.*1063G>T (n.*1063G>T) c.2019G>T (p.Val673=) | gnomAD v3 gnomAD v4 |
| 16 | g.89935430G>A | CA397476235 | TUBB3 | c.979G>A (p.Asp327Asn) n.4400G>A c.763G>A (p.Asp255Asn) c.277+1852G>A (n.277+1852G>A) c.*1064G>A (n.*1064G>A) c.2020G>A (p.Asp674Asn) | |
| 16 | g.89935430G>C | CA397476242 | TUBB3 | c.979G>C (p.Asp327His) n.4400G>C c.763G>C (p.Asp255His) c.277+1852G>C (n.277+1852G>C) c.*1064G>C (n.*1064G>C) c.2020G>C (p.Asp674His) | |
| 16 | g.89935430G>T | CA397476232 | TUBB3 | c.979G>T (p.Asp327Tyr) n.4400G>T c.763G>T (p.Asp255Tyr) c.277+1852G>T (n.277+1852G>T) c.*1064G>T (n.*1064G>T) c.2020G>T (p.Asp674Tyr) | |
| 16 | g.89935431A>C | CA397476244 | TUBB3 | c.980A>C (p.Asp327Ala) n.4401A>C c.764A>C (p.Asp255Ala) c.277+1853A>C (n.277+1853A>C) c.*1065A>C (n.*1065A>C) c.2021A>C (p.Asp674Ala) | |
| 16 | g.89935431A>G | CA397476245 | TUBB3 | c.980A>G (p.Asp327Gly) n.4401A>G c.764A>G (p.Asp255Gly) c.277+1853A>G (n.277+1853A>G) c.*1065A>G (n.*1065A>G) c.2021A>G (p.Asp674Gly) | |
| 16 | g.89935431A>T | CA397476248 | TUBB3 | c.980A>T (p.Asp327Val) n.4401A>T c.764A>T (p.Asp255Val) c.277+1853A>T (n.277+1853A>T) c.*1065A>T (n.*1065A>T) c.2021A>T (p.Asp674Val) | |
| 16 | g.89935432C>A | CA397476252 | TUBB3 | c.981C>A (p.Asp327Glu) n.4402C>A c.765C>A (p.Asp255Glu) c.277+1854C>A (n.277+1854C>A) c.*1066C>A (n.*1066C>A) c.2022C>A (p.Asp674Glu) | |
| 16 | g.89935432C= | CA2242020434 | TUBB3 | c.981C= (p.Asp327=) n.4402C= c.765C= (p.Asp255=) c.277+1854C= (n.277+1854C=) c.*1066C= (n.*1066C=) c.2022C= (p.Asp674=) | |
| 16 | g.89935432C>G | CA397476254 | TUBB3 | c.981C>G (p.Asp327Glu) n.4402C>G c.765C>G (p.Asp255Glu) c.277+1854C>G (n.277+1854C>G) c.*1066C>G (n.*1066C>G) c.2022C>G (p.Asp674Glu) | gnomAD v3 gnomAD v4 |
| 16 | g.89935432C>T | CA8256192 | TUBB3 | c.981C>T (p.Asp327=) n.4402C>T c.765C>T (p.Asp255=) c.277+1854C>T (n.277+1854C>T) c.*1066C>T (n.*1066C>T) c.2022C>T (p.Asp674=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89935433G>A | CA16043693 | TUBB3 | c.982G>A (p.Glu328Lys) n.4403G>A c.766G>A (p.Glu256Lys) c.277+1855G>A (n.277+1855G>A) c.*1067G>A (n.*1067G>A) c.2023G>A (p.Glu675Lys) | ClinVar dbSNP |
| 16 | g.89935433G>C | CA397476258 | TUBB3 | c.982G>C (p.Glu328Gln) n.4403G>C c.766G>C (p.Glu256Gln) c.277+1855G>C (n.277+1855G>C) c.*1067G>C (n.*1067G>C) c.2023G>C (p.Glu675Gln) | |
| 16 | g.89935433G= | CA2242020437 | TUBB3 | c.982G= (p.Glu328=) n.4403G= c.766G= (p.Glu256=) c.277+1855G= (n.277+1855G=) c.*1067G= (n.*1067G=) c.2023G= (p.Glu675=) | |
| 16 | g.89935433G>T | CA397476256 | TUBB3 | c.982G>T (p.Glu328Ter) n.4403G>T c.766G>T (p.Glu256Ter) c.277+1855G>T (n.277+1855G>T) c.*1067G>T (n.*1067G>T) c.2023G>T (p.Glu675Ter) | |
| 16 | g.89935434A>C | CA397476259 | TUBB3 | c.983A>C (p.Glu328Ala) n.4404A>C c.767A>C (p.Glu256Ala) c.277+1856A>C (n.277+1856A>C) c.*1068A>C (n.*1068A>C) c.2024A>C (p.Glu675Ala) | |
| 16 | g.89935434A>G | CA397476260 | TUBB3 | c.983A>G (p.Glu328Gly) n.4404A>G c.767A>G (p.Glu256Gly) c.277+1856A>G (n.277+1856A>G) c.*1068A>G (n.*1068A>G) c.2024A>G (p.Glu675Gly) | |
| 16 | g.89935434A>T | CA397476261 | TUBB3 | c.983A>T (p.Glu328Val) n.4404A>T c.767A>T (p.Glu256Val) c.277+1856A>T (n.277+1856A>T) c.*1068A>T (n.*1068A>T) c.2024A>T (p.Glu675Val) |