Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.144403947T>ACA348714618ZEB2c.*625A>T (n.*625A>T)
c.-2A>T (n.-2A>T)
c.776A>T (p.His259Leu)
n.745A>T
c.440A>T (p.His147Leu)
c.*493A>T (n.*493A>T)
n.876A>T
c.-133-5097A>T (n.-133-5097A>T)
c.773A>T (p.His258Leu)
c.860A>T (p.His287Leu)
c.515A>T (p.His172Leu)
c.863A>T (p.His288Leu)
c.761A>T (p.His254Leu)
c.704A>T (p.His235Leu)
c.767A>T (p.His256Leu)
c.755A>T (p.His252Leu)
2g.144403947T>CCA348714619ZEB2c.*625A>G (n.*625A>G)
c.-2A>G (n.-2A>G)
c.776A>G (p.His259Arg)
n.745A>G
c.440A>G (p.His147Arg)
c.*493A>G (n.*493A>G)
n.876A>G
c.-133-5097A>G (n.-133-5097A>G)
c.773A>G (p.His258Arg)
c.860A>G (p.His287Arg)
c.515A>G (p.His172Arg)
c.863A>G (p.His288Arg)
c.761A>G (p.His254Arg)
c.704A>G (p.His235Arg)
c.767A>G (p.His256Arg)
c.755A>G (p.His252Arg)
2g.144403947T>GCA348714620ZEB2c.*625A>C (n.*625A>C)
c.-2A>C (n.-2A>C)
c.776A>C (p.His259Pro)
n.745A>C
c.440A>C (p.His147Pro)
c.*493A>C (n.*493A>C)
n.876A>C
c.-133-5097A>C (n.-133-5097A>C)
c.773A>C (p.His258Pro)
c.860A>C (p.His287Pro)
c.515A>C (p.His172Pro)
c.863A>C (p.His288Pro)
c.761A>C (p.His254Pro)
c.704A>C (p.His235Pro)
c.767A>C (p.His256Pro)
c.755A>C (p.His252Pro)
2g.144403947dupCA1139657220ZEB2c.*625dup (n.*625dup)
c.-2dup (n.-2dup)
c.776dup (p.His259GlnfsTer21)
n.745dup
c.440dup (p.His147GlnfsTer21)
c.*493dup (n.*493dup)
n.876dup
c.-133-5097dup (n.-133-5097dup)
c.773dup (p.His258GlnfsTer21)
c.860dup (p.His287GlnfsTer21)
c.515dup (p.His172GlnfsTer21)
c.863dup (p.His288GlnfsTer21)
c.761dup (p.His254GlnfsTer21)
c.704dup (p.His235GlnfsTer21)
c.767dup (p.His256GlnfsTer21)
c.755dup (p.His252GlnfsTer21)
 ClinVar dbSNP
2g.144403948G>ACA348714622ZEB2c.*624C>T (n.*624C>T)
c.-3C>T (n.-3C>T)
c.775C>T (p.His259Tyr)
n.744C>T
c.439C>T (p.His147Tyr)
c.*492C>T (n.*492C>T)
n.875C>T
c.-133-5098C>T (n.-133-5098C>T)
c.772C>T (p.His258Tyr)
c.859C>T (p.His287Tyr)
c.514C>T (p.His172Tyr)
c.862C>T (p.His288Tyr)
c.760C>T (p.His254Tyr)
c.703C>T (p.His235Tyr)
c.766C>T (p.His256Tyr)
c.754C>T (p.His252Tyr)
 COSMIC
2g.144403948G>CCA348714623ZEB2c.*624C>G (n.*624C>G)
c.-3C>G (n.-3C>G)
c.775C>G (p.His259Asp)
n.744C>G
c.439C>G (p.His147Asp)
c.*492C>G (n.*492C>G)
n.875C>G
c.-133-5098C>G (n.-133-5098C>G)
c.772C>G (p.His258Asp)
c.859C>G (p.His287Asp)
c.514C>G (p.His172Asp)
c.862C>G (p.His288Asp)
c.760C>G (p.His254Asp)
c.703C>G (p.His235Asp)
c.766C>G (p.His256Asp)
c.754C>G (p.His252Asp)
2g.144403948G>TCA348714621ZEB2c.*624C>A (n.*624C>A)
c.-3C>A (n.-3C>A)
c.775C>A (p.His259Asn)
n.744C>A
c.439C>A (p.His147Asn)
c.*492C>A (n.*492C>A)
n.875C>A
c.-133-5098C>A (n.-133-5098C>A)
c.772C>A (p.His258Asn)
c.859C>A (p.His287Asn)
c.514C>A (p.His172Asn)
c.862C>A (p.His288Asn)
c.760C>A (p.His254Asn)
c.703C>A (p.His235Asn)
c.766C>A (p.His256Asn)
c.754C>A (p.His252Asn)
2g.144403949C>ACA429218465ZEB2c.*623G>T (n.*623G>T)
c.-4G>T (n.-4G>T)
c.774G>T (p.Arg258=)
n.743G>T
c.438G>T (p.Arg146=)
c.*491G>T (n.*491G>T)
n.874G>T
c.-133-5099G>T (n.-133-5099G>T)
c.771G>T (p.Arg257=)
c.858G>T (p.Arg286=)
c.513G>T (p.Arg171=)
c.861G>T (p.Arg287=)
c.759G>T (p.Arg253=)
c.702G>T (p.Arg234=)
c.765G>T (p.Arg255=)
c.753G>T (p.Arg251=)
 gnomAD v4
2g.144403949C>GCA429218463ZEB2c.*623G>C (n.*623G>C)
c.-4G>C (n.-4G>C)
c.774G>C (p.Arg258=)
n.743G>C
c.438G>C (p.Arg146=)
c.*491G>C (n.*491G>C)
n.874G>C
c.-133-5099G>C (n.-133-5099G>C)
c.771G>C (p.Arg257=)
c.858G>C (p.Arg286=)
c.513G>C (p.Arg171=)
c.861G>C (p.Arg287=)
c.759G>C (p.Arg253=)
c.702G>C (p.Arg234=)
c.765G>C (p.Arg255=)
c.753G>C (p.Arg251=)
2g.144403949C>TCA429218464ZEB2c.*623G>A (n.*623G>A)
c.-4G>A (n.-4G>A)
c.774G>A (p.Arg258=)
n.743G>A
c.438G>A (p.Arg146=)
c.*491G>A (n.*491G>A)
n.874G>A
c.-133-5099G>A (n.-133-5099G>A)
c.771G>A (p.Arg257=)
c.858G>A (p.Arg286=)
c.513G>A (p.Arg171=)
c.861G>A (p.Arg287=)
c.759G>A (p.Arg253=)
c.702G>A (p.Arg234=)
c.765G>A (p.Arg255=)
c.753G>A (p.Arg251=)
2g.144403950C>ACA348714624ZEB2c.*622G>T (n.*622G>T)
c.-5G>T (n.-5G>T)
c.773G>T (p.Arg258Leu)
n.742G>T
c.437G>T (p.Arg146Leu)
c.*490G>T (n.*490G>T)
n.873G>T
c.-133-5100G>T (n.-133-5100G>T)
c.770G>T (p.Arg257Leu)
c.857G>T (p.Arg286Leu)
c.512G>T (p.Arg171Leu)
c.860G>T (p.Arg287Leu)
c.758G>T (p.Arg253Leu)
c.701G>T (p.Arg234Leu)
c.764G>T (p.Arg255Leu)
c.752G>T (p.Arg251Leu)
2g.144403950C=CA1294887171ZEB2c.*622G= (n.*622G=)
c.-5G= (n.-5G=)
c.773G= (p.Arg258=)
n.742G=
c.437G= (p.Arg146=)
c.*490G= (n.*490G=)
n.873G=
c.-133-5100G= (n.-133-5100G=)
c.770G= (p.Arg257=)
c.857G= (p.Arg286=)
c.512G= (p.Arg171=)
c.860G= (p.Arg287=)
c.758G= (p.Arg253=)
c.701G= (p.Arg234=)
c.764G= (p.Arg255=)
c.752G= (p.Arg251=)
2g.144403950C>GCA348714625ZEB2c.*622G>C (n.*622G>C)
c.-5G>C (n.-5G>C)
c.773G>C (p.Arg258Pro)
n.742G>C
c.437G>C (p.Arg146Pro)
c.*490G>C (n.*490G>C)
n.873G>C
c.-133-5100G>C (n.-133-5100G>C)
c.770G>C (p.Arg257Pro)
c.857G>C (p.Arg286Pro)
c.512G>C (p.Arg171Pro)
c.860G>C (p.Arg287Pro)
c.758G>C (p.Arg253Pro)
c.701G>C (p.Arg234Pro)
c.764G>C (p.Arg255Pro)
c.752G>C (p.Arg251Pro)
2g.144403950C>TCA246746ZEB2c.*622G>A (n.*622G>A)
c.-5G>A (n.-5G>A)
c.773G>A (p.Arg258Gln)
n.742G>A
c.437G>A (p.Arg146Gln)
c.*490G>A (n.*490G>A)
n.873G>A
c.-133-5100G>A (n.-133-5100G>A)
c.770G>A (p.Arg257Gln)
c.857G>A (p.Arg286Gln)
c.512G>A (p.Arg171Gln)
c.860G>A (p.Arg287Gln)
c.758G>A (p.Arg253Gln)
c.701G>A (p.Arg234Gln)
c.764G>A (p.Arg255Gln)
c.752G>A (p.Arg251Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.144403951G>ACA348714626ZEB2c.*621C>T (n.*621C>T)
c.-6C>T (n.-6C>T)
c.772C>T (p.Arg258Trp)
n.741C>T
c.436C>T (p.Arg146Trp)
c.*489C>T (n.*489C>T)
n.872C>T
c.-133-5101C>T (n.-133-5101C>T)
c.769C>T (p.Arg257Trp)
c.856C>T (p.Arg286Trp)
c.511C>T (p.Arg171Trp)
c.859C>T (p.Arg287Trp)
c.757C>T (p.Arg253Trp)
c.700C>T (p.Arg234Trp)
c.763C>T (p.Arg255Trp)
c.751C>T (p.Arg251Trp)
 gnomAD v4 COSMIC
2g.144403951G>CCA348714627ZEB2c.*621C>G (n.*621C>G)
c.-6C>G (n.-6C>G)
c.772C>G (p.Arg258Gly)
n.741C>G
c.436C>G (p.Arg146Gly)
c.*489C>G (n.*489C>G)
n.872C>G
c.-133-5101C>G (n.-133-5101C>G)
c.769C>G (p.Arg257Gly)
c.856C>G (p.Arg286Gly)
c.511C>G (p.Arg171Gly)
c.859C>G (p.Arg287Gly)
c.757C>G (p.Arg253Gly)
c.700C>G (p.Arg234Gly)
c.763C>G (p.Arg255Gly)
c.751C>G (p.Arg251Gly)
2g.144403951G>TCA429218467ZEB2c.*621C>A (n.*621C>A)
c.-6C>A (n.-6C>A)
c.772C>A (p.Arg258=)
n.741C>A
c.436C>A (p.Arg146=)
c.*489C>A (n.*489C>A)
n.872C>A
c.-133-5101C>A (n.-133-5101C>A)
c.769C>A (p.Arg257=)
c.856C>A (p.Arg286=)
c.511C>A (p.Arg171=)
c.859C>A (p.Arg287=)
c.757C>A (p.Arg253=)
c.700C>A (p.Arg234=)
c.763C>A (p.Arg255=)
c.751C>A (p.Arg251=)
 gnomAD v4 COSMIC
2g.144403951_144403953delinsGCTCA1294887172ZEB2c.*619_*621delinsAGC (n.*619_*621delinsAGC)
c.-8_-6delinsAGC (n.-8_-6delinsAGC)
c.770_772delinsAGC (p.Glu257=)
n.739_741delinsAGC
c.434_436delinsAGC (p.Glu145=)
c.*487_*489delinsAGC (n.*487_*489delinsAGC)
n.870_872delinsAGC
c.-133-5103_-133-5101delinsAGC (n.-133-5103_-133-5101delinsAGC)
c.767_769delinsAGC (p.Glu256=)
c.854_856delinsAGC (p.Glu285=)
c.509_511delinsAGC (p.Glu170=)
c.857_859delinsAGC (p.Glu286=)
c.755_757delinsAGC (p.Glu252=)
c.698_700delinsAGC (p.Glu233=)
c.761_763delinsAGC (p.Glu254=)
c.749_751delinsAGC (p.Glu250=)
2g.144403952C>ACA348714628ZEB2c.*620G>T (n.*620G>T)
c.-7G>T (n.-7G>T)
c.771G>T (p.Glu257Asp)
n.740G>T
c.435G>T (p.Glu145Asp)
c.*488G>T (n.*488G>T)
n.871G>T
c.-133-5102G>T (n.-133-5102G>T)
c.768G>T (p.Glu256Asp)
c.855G>T (p.Glu285Asp)
c.510G>T (p.Glu170Asp)
c.858G>T (p.Glu286Asp)
c.756G>T (p.Glu252Asp)
c.699G>T (p.Glu233Asp)
c.762G>T (p.Glu254Asp)
c.750G>T (p.Glu250Asp)
2g.144403952C>GCA348714629ZEB2c.*620G>C (n.*620G>C)
c.-7G>C (n.-7G>C)
c.771G>C (p.Glu257Asp)
n.740G>C
c.435G>C (p.Glu145Asp)
c.*488G>C (n.*488G>C)
n.871G>C
c.-133-5102G>C (n.-133-5102G>C)
c.768G>C (p.Glu256Asp)
c.855G>C (p.Glu285Asp)
c.510G>C (p.Glu170Asp)
c.858G>C (p.Glu286Asp)
c.756G>C (p.Glu252Asp)
c.699G>C (p.Glu233Asp)
c.762G>C (p.Glu254Asp)
c.750G>C (p.Glu250Asp)
2g.144403952C>TCA429218468ZEB2c.*620G>A (n.*620G>A)
c.-7G>A (n.-7G>A)
c.771G>A (p.Glu257=)
n.740G>A
c.435G>A (p.Glu145=)
c.*488G>A (n.*488G>A)
n.871G>A
c.-133-5102G>A (n.-133-5102G>A)
c.768G>A (p.Glu256=)
c.855G>A (p.Glu285=)
c.510G>A (p.Glu170=)
c.858G>A (p.Glu286=)
c.756G>A (p.Glu252=)
c.699G>A (p.Glu233=)
c.762G>A (p.Glu254=)
c.750G>A (p.Glu250=)
2g.144403953_144403954delCA915942801ZEB2c.*619_*620del (n.*619_*620del)
c.-8_-7del (n.-8_-7del)
c.770_771del (p.Glu257AlafsTer22)
n.739_740del
c.434_435del (p.Glu145AlafsTer22)
c.*487_*488del (n.*487_*488del)
n.870_871del
c.-133-5103_-133-5102del (n.-133-5103_-133-5102del)
c.767_768del (p.Glu256AlafsTer22)
c.854_855del (p.Glu285AlafsTer22)
c.509_510del (p.Glu170AlafsTer22)
c.857_858del (p.Glu286AlafsTer22)
c.755_756del (p.Glu252AlafsTer22)
c.698_699del (p.Glu233AlafsTer22)
c.761_762del (p.Glu254AlafsTer22)
c.749_750del (p.Glu250AlafsTer22)
 ClinVar dbSNP
2g.144403953T>ACA348714630ZEB2c.*619A>T (n.*619A>T)
c.-8A>T (n.-8A>T)
c.770A>T (p.Glu257Val)
n.739A>T
c.434A>T (p.Glu145Val)
c.*487A>T (n.*487A>T)
n.870A>T
c.-133-5103A>T (n.-133-5103A>T)
c.767A>T (p.Glu256Val)
c.854A>T (p.Glu285Val)
c.509A>T (p.Glu170Val)
c.857A>T (p.Glu286Val)
c.755A>T (p.Glu252Val)
c.698A>T (p.Glu233Val)
c.761A>T (p.Glu254Val)
c.749A>T (p.Glu250Val)
2g.144403953T>CCA348714631ZEB2c.*619A>G (n.*619A>G)
c.-8A>G (n.-8A>G)
c.770A>G (p.Glu257Gly)
n.739A>G
c.434A>G (p.Glu145Gly)
c.*487A>G (n.*487A>G)
n.870A>G
c.-133-5103A>G (n.-133-5103A>G)
c.767A>G (p.Glu256Gly)
c.854A>G (p.Glu285Gly)
c.509A>G (p.Glu170Gly)
c.857A>G (p.Glu286Gly)
c.755A>G (p.Glu252Gly)
c.698A>G (p.Glu233Gly)
c.761A>G (p.Glu254Gly)
c.749A>G (p.Glu250Gly)
2g.144403953T>GCA348714632ZEB2c.*619A>C (n.*619A>C)
c.-8A>C (n.-8A>C)
c.770A>C (p.Glu257Ala)
n.739A>C
c.434A>C (p.Glu145Ala)
c.*487A>C (n.*487A>C)
n.870A>C
c.-133-5103A>C (n.-133-5103A>C)
c.767A>C (p.Glu256Ala)
c.854A>C (p.Glu285Ala)
c.509A>C (p.Glu170Ala)
c.857A>C (p.Glu286Ala)
c.755A>C (p.Glu252Ala)
c.698A>C (p.Glu233Ala)
c.761A>C (p.Glu254Ala)
c.749A>C (p.Glu250Ala)
2g.144403954C>ACA348714633ZEB2c.*618G>T (n.*618G>T)
c.-9G>T (n.-9G>T)
c.769G>T (p.Glu257Ter)
n.738G>T
c.433G>T (p.Glu145Ter)
c.*486G>T (n.*486G>T)
n.869G>T
c.-133-5104G>T (n.-133-5104G>T)
c.766G>T (p.Glu256Ter)
c.853G>T (p.Glu285Ter)
c.508G>T (p.Glu170Ter)
c.856G>T (p.Glu286Ter)
c.754G>T (p.Glu252Ter)
c.697G>T (p.Glu233Ter)
c.760G>T (p.Glu254Ter)
c.748G>T (p.Glu250Ter)
 ClinVar dbSNP
2g.144403954C=CA1294887173ZEB2c.*618G= (n.*618G=)
c.-9G= (n.-9G=)
c.769G= (p.Glu257=)
n.738G=
c.433G= (p.Glu145=)
c.*486G= (n.*486G=)
n.869G=
c.-133-5104G= (n.-133-5104G=)
c.766G= (p.Glu256=)
c.853G= (p.Glu285=)
c.508G= (p.Glu170=)
c.856G= (p.Glu286=)
c.754G= (p.Glu252=)
c.697G= (p.Glu233=)
c.760G= (p.Glu254=)
c.748G= (p.Glu250=)
2g.144403954C>GCA348714634ZEB2c.*618G>C (n.*618G>C)
c.-9G>C (n.-9G>C)
c.769G>C (p.Glu257Gln)
n.738G>C
c.433G>C (p.Glu145Gln)
c.*486G>C (n.*486G>C)
n.869G>C
c.-133-5104G>C (n.-133-5104G>C)
c.766G>C (p.Glu256Gln)
c.853G>C (p.Glu285Gln)
c.508G>C (p.Glu170Gln)
c.856G>C (p.Glu286Gln)
c.754G>C (p.Glu252Gln)
c.697G>C (p.Glu233Gln)
c.760G>C (p.Glu254Gln)
c.748G>C (p.Glu250Gln)
2g.144403954C>TCA348714635ZEB2c.*618G>A (n.*618G>A)
c.-9G>A (n.-9G>A)
c.769G>A (p.Glu257Lys)
n.738G>A
c.433G>A (p.Glu145Lys)
c.*486G>A (n.*486G>A)
n.869G>A
c.-133-5104G>A (n.-133-5104G>A)
c.766G>A (p.Glu256Lys)
c.853G>A (p.Glu285Lys)
c.508G>A (p.Glu170Lys)
c.856G>A (p.Glu286Lys)
c.754G>A (p.Glu252Lys)
c.697G>A (p.Glu233Lys)
c.760G>A (p.Glu254Lys)
c.748G>A (p.Glu250Lys)
 ClinVar dbSNP
2g.144403955G>ACA297554ZEB2c.*617C>T (n.*617C>T)
c.-10C>T (n.-10C>T)
c.768C>T (p.Leu256=)
n.737C>T
c.432C>T (p.Leu144=)
c.*485C>T (n.*485C>T)
n.868C>T
c.-133-5105C>T (n.-133-5105C>T)
c.765C>T (p.Leu255=)
c.852C>T (p.Leu284=)
c.507C>T (p.Leu169=)
c.855C>T (p.Leu285=)
c.753C>T (p.Leu251=)
c.696C>T (p.Leu232=)
c.759C>T (p.Leu253=)
c.747C>T (p.Leu249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403955G>CCA429218472ZEB2c.*617C>G (n.*617C>G)
c.-10C>G (n.-10C>G)
c.768C>G (p.Leu256=)
n.737C>G
c.432C>G (p.Leu144=)
c.*485C>G (n.*485C>G)
n.868C>G
c.-133-5105C>G (n.-133-5105C>G)
c.765C>G (p.Leu255=)
c.852C>G (p.Leu284=)
c.507C>G (p.Leu169=)
c.855C>G (p.Leu285=)
c.753C>G (p.Leu251=)
c.696C>G (p.Leu232=)
c.759C>G (p.Leu253=)
c.747C>G (p.Leu249=)
 gnomAD v4
2g.144403955G=CA1294887174ZEB2c.*617C= (n.*617C=)
c.-10C= (n.-10C=)
c.768C= (p.Leu256=)
n.737C=
c.432C= (p.Leu144=)
c.*485C= (n.*485C=)
n.868C=
c.-133-5105C= (n.-133-5105C=)
c.765C= (p.Leu255=)
c.852C= (p.Leu284=)
c.507C= (p.Leu169=)
c.855C= (p.Leu285=)
c.753C= (p.Leu251=)
c.696C= (p.Leu232=)
c.759C= (p.Leu253=)
c.747C= (p.Leu249=)
2g.144403955G>TCA429218471ZEB2c.*617C>A (n.*617C>A)
c.-10C>A (n.-10C>A)
c.768C>A (p.Leu256=)
n.737C>A
c.432C>A (p.Leu144=)
c.*485C>A (n.*485C>A)
n.868C>A
c.-133-5105C>A (n.-133-5105C>A)
c.765C>A (p.Leu255=)
c.852C>A (p.Leu284=)
c.507C>A (p.Leu169=)
c.855C>A (p.Leu285=)
c.753C>A (p.Leu251=)
c.696C>A (p.Leu232=)
c.759C>A (p.Leu253=)
c.747C>A (p.Leu249=)
2g.144403956A=CA1294887175ZEB2c.*616T= (n.*616T=)
c.-11T= (n.-11T=)
c.767T= (p.Leu256=)
n.736T=
c.431T= (p.Leu144=)
c.*484T= (n.*484T=)
n.867T=
c.-133-5106T= (n.-133-5106T=)
c.764T= (p.Leu255=)
c.851T= (p.Leu284=)
c.506T= (p.Leu169=)
c.854T= (p.Leu285=)
c.752T= (p.Leu251=)
c.695T= (p.Leu232=)
c.758T= (p.Leu253=)
c.746T= (p.Leu249=)
2g.144403956A>CCA348714637ZEB2c.*616T>G (n.*616T>G)
c.-11T>G (n.-11T>G)
c.767T>G (p.Leu256Arg)
n.736T>G
c.431T>G (p.Leu144Arg)
c.*484T>G (n.*484T>G)
n.867T>G
c.-133-5106T>G (n.-133-5106T>G)
c.764T>G (p.Leu255Arg)
c.851T>G (p.Leu284Arg)
c.506T>G (p.Leu169Arg)
c.854T>G (p.Leu285Arg)
c.752T>G (p.Leu251Arg)
c.695T>G (p.Leu232Arg)
c.758T>G (p.Leu253Arg)
c.746T>G (p.Leu249Arg)
2g.144403956A>GCA1898420ZEB2c.*616T>C (n.*616T>C)
c.-11T>C (n.-11T>C)
c.767T>C (p.Leu256Pro)
n.736T>C
c.431T>C (p.Leu144Pro)
c.*484T>C (n.*484T>C)
n.867T>C
c.-133-5106T>C (n.-133-5106T>C)
c.764T>C (p.Leu255Pro)
c.851T>C (p.Leu284Pro)
c.506T>C (p.Leu169Pro)
c.854T>C (p.Leu285Pro)
c.752T>C (p.Leu251Pro)
c.695T>C (p.Leu232Pro)
c.758T>C (p.Leu253Pro)
c.746T>C (p.Leu249Pro)
 dbSNP ExAC gnomAD v2
2g.144403956A>TCA348714636ZEB2c.*616T>A (n.*616T>A)
c.-11T>A (n.-11T>A)
c.767T>A (p.Leu256His)
n.736T>A
c.431T>A (p.Leu144His)
c.*484T>A (n.*484T>A)
n.867T>A
c.-133-5106T>A (n.-133-5106T>A)
c.764T>A (p.Leu255His)
c.851T>A (p.Leu284His)
c.506T>A (p.Leu169His)
c.854T>A (p.Leu285His)
c.752T>A (p.Leu251His)
c.695T>A (p.Leu232His)
c.758T>A (p.Leu253His)
c.746T>A (p.Leu249His)
2g.144403957G>ACA348714638ZEB2c.*615C>T (n.*615C>T)
c.-12C>T (n.-12C>T)
c.766C>T (p.Leu256Phe)
n.735C>T
c.430C>T (p.Leu144Phe)
c.*483C>T (n.*483C>T)
n.866C>T
c.-133-5107C>T (n.-133-5107C>T)
c.763C>T (p.Leu255Phe)
c.850C>T (p.Leu284Phe)
c.505C>T (p.Leu169Phe)
c.853C>T (p.Leu285Phe)
c.751C>T (p.Leu251Phe)
c.694C>T (p.Leu232Phe)
c.757C>T (p.Leu253Phe)
c.745C>T (p.Leu249Phe)
2g.144403957G>CCA348714639ZEB2c.*615C>G (n.*615C>G)
c.-12C>G (n.-12C>G)
c.766C>G (p.Leu256Val)
n.735C>G
c.430C>G (p.Leu144Val)
c.*483C>G (n.*483C>G)
n.866C>G
c.-133-5107C>G (n.-133-5107C>G)
c.763C>G (p.Leu255Val)
c.850C>G (p.Leu284Val)
c.505C>G (p.Leu169Val)
c.853C>G (p.Leu285Val)
c.751C>G (p.Leu251Val)
c.694C>G (p.Leu232Val)
c.757C>G (p.Leu253Val)
c.745C>G (p.Leu249Val)
2g.144403957G>TCA348714640ZEB2c.*615C>A (n.*615C>A)
c.-12C>A (n.-12C>A)
c.766C>A (p.Leu256Ile)
n.735C>A
c.430C>A (p.Leu144Ile)
c.*483C>A (n.*483C>A)
n.866C>A
c.-133-5107C>A (n.-133-5107C>A)
c.763C>A (p.Leu255Ile)
c.850C>A (p.Leu284Ile)
c.505C>A (p.Leu169Ile)
c.853C>A (p.Leu285Ile)
c.751C>A (p.Leu251Ile)
c.694C>A (p.Leu232Ile)
c.757C>A (p.Leu253Ile)
c.745C>A (p.Leu249Ile)
2g.144403958C>ACA348714641ZEB2c.*614G>T (n.*614G>T)
c.-13G>T (n.-13G>T)
c.765G>T (p.Gln255His)
n.734G>T
c.429G>T (p.Gln143His)
c.*482G>T (n.*482G>T)
n.865G>T
c.-133-5108G>T (n.-133-5108G>T)
c.762G>T (p.Gln254His)
c.849G>T (p.Gln283His)
c.504G>T (p.Gln168His)
c.852G>T (p.Gln284His)
c.750G>T (p.Gln250His)
c.693G>T (p.Gln231His)
c.756G>T (p.Gln252His)
c.744G>T (p.Gln248His)
2g.144403958C>GCA348714642ZEB2c.*614G>C (n.*614G>C)
c.-13G>C (n.-13G>C)
c.765G>C (p.Gln255His)
n.734G>C
c.429G>C (p.Gln143His)
c.*482G>C (n.*482G>C)
n.865G>C
c.-133-5108G>C (n.-133-5108G>C)
c.762G>C (p.Gln254His)
c.849G>C (p.Gln283His)
c.504G>C (p.Gln168His)
c.852G>C (p.Gln284His)
c.750G>C (p.Gln250His)
c.693G>C (p.Gln231His)
c.756G>C (p.Gln252His)
c.744G>C (p.Gln248His)
2g.144403958C>TCA429218476ZEB2c.*614G>A (n.*614G>A)
c.-13G>A (n.-13G>A)
c.765G>A (p.Gln255=)
n.734G>A
c.429G>A (p.Gln143=)
c.*482G>A (n.*482G>A)
n.865G>A
c.-133-5108G>A (n.-133-5108G>A)
c.762G>A (p.Gln254=)
c.849G>A (p.Gln283=)
c.504G>A (p.Gln168=)
c.852G>A (p.Gln284=)
c.750G>A (p.Gln250=)
c.693G>A (p.Gln231=)
c.756G>A (p.Gln252=)
c.744G>A (p.Gln248=)
2g.144403959T>ACA348714643ZEB2c.*613A>T (n.*613A>T)
c.-14A>T (n.-14A>T)
c.764A>T (p.Gln255Leu)
n.733A>T
c.428A>T (p.Gln143Leu)
c.*481A>T (n.*481A>T)
n.864A>T
c.-133-5109A>T (n.-133-5109A>T)
c.761A>T (p.Gln254Leu)
c.848A>T (p.Gln283Leu)
c.503A>T (p.Gln168Leu)
c.851A>T (p.Gln284Leu)
c.749A>T (p.Gln250Leu)
c.692A>T (p.Gln231Leu)
c.755A>T (p.Gln252Leu)
c.743A>T (p.Gln248Leu)
2g.144403959T>CCA348714644ZEB2c.*613A>G (n.*613A>G)
c.-14A>G (n.-14A>G)
c.764A>G (p.Gln255Arg)
n.733A>G
c.428A>G (p.Gln143Arg)
c.*481A>G (n.*481A>G)
n.864A>G
c.-133-5109A>G (n.-133-5109A>G)
c.761A>G (p.Gln254Arg)
c.848A>G (p.Gln283Arg)
c.503A>G (p.Gln168Arg)
c.851A>G (p.Gln284Arg)
c.749A>G (p.Gln250Arg)
c.692A>G (p.Gln231Arg)
c.755A>G (p.Gln252Arg)
c.743A>G (p.Gln248Arg)
2g.144403959T>GCA348714645ZEB2c.*613A>C (n.*613A>C)
c.-14A>C (n.-14A>C)
c.764A>C (p.Gln255Pro)
n.733A>C
c.428A>C (p.Gln143Pro)
c.*481A>C (n.*481A>C)
n.864A>C
c.-133-5109A>C (n.-133-5109A>C)
c.761A>C (p.Gln254Pro)
c.848A>C (p.Gln283Pro)
c.503A>C (p.Gln168Pro)
c.851A>C (p.Gln284Pro)
c.749A>C (p.Gln250Pro)
c.692A>C (p.Gln231Pro)
c.755A>C (p.Gln252Pro)
c.743A>C (p.Gln248Pro)
2g.144403960G>ACA348714646ZEB2c.*612C>T (n.*612C>T)
c.-15C>T (n.-15C>T)
c.763C>T (p.Gln255Ter)
n.732C>T
c.427C>T (p.Gln143Ter)
c.*480C>T (n.*480C>T)
n.863C>T
c.-133-5110C>T (n.-133-5110C>T)
c.760C>T (p.Gln254Ter)
c.847C>T (p.Gln283Ter)
c.502C>T (p.Gln168Ter)
c.850C>T (p.Gln284Ter)
c.748C>T (p.Gln250Ter)
c.691C>T (p.Gln231Ter)
c.754C>T (p.Gln252Ter)
c.742C>T (p.Gln248Ter)
2g.144403960G>CCA348714647ZEB2c.*612C>G (n.*612C>G)
c.-15C>G (n.-15C>G)
c.763C>G (p.Gln255Glu)
n.732C>G
c.427C>G (p.Gln143Glu)
c.*480C>G (n.*480C>G)
n.863C>G
c.-133-5110C>G (n.-133-5110C>G)
c.760C>G (p.Gln254Glu)
c.847C>G (p.Gln283Glu)
c.502C>G (p.Gln168Glu)
c.850C>G (p.Gln284Glu)
c.748C>G (p.Gln250Glu)
c.691C>G (p.Gln231Glu)
c.754C>G (p.Gln252Glu)
c.742C>G (p.Gln248Glu)
2g.144403960G>TCA348714648ZEB2c.*612C>A (n.*612C>A)
c.-15C>A (n.-15C>A)
c.763C>A (p.Gln255Lys)
n.732C>A
c.427C>A (p.Gln143Lys)
c.*480C>A (n.*480C>A)
n.863C>A
c.-133-5110C>A (n.-133-5110C>A)
c.760C>A (p.Gln254Lys)
c.847C>A (p.Gln283Lys)
c.502C>A (p.Gln168Lys)
c.850C>A (p.Gln284Lys)
c.748C>A (p.Gln250Lys)
c.691C>A (p.Gln231Lys)
c.754C>A (p.Gln252Lys)
c.742C>A (p.Gln248Lys)
2g.144403962delCA2586965033ZEB2c.*612del (n.*612del)
c.-15del (n.-15del)
c.763del (p.Gln255SerfsTer7)
n.732del
c.427del (p.Gln143SerfsTer7)
c.*480del (n.*480del)
n.863del
c.-133-5110del (n.-133-5110del)
c.760del (p.Gln254SerfsTer7)
c.847del (p.Gln283SerfsTer7)
c.502del (p.Gln168SerfsTer7)
c.850del (p.Gln284SerfsTer7)
c.748del (p.Gln250SerfsTer7)
c.691del (p.Gln231SerfsTer7)
c.754del (p.Gln252SerfsTer7)
c.742del (p.Gln248SerfsTer7)
2g.144403961G>ACA429218478ZEB2c.*611C>T (n.*611C>T)
c.-16C>T (n.-16C>T)
c.762C>T (p.Thr254=)
n.731C>T
c.426C>T (p.Thr142=)
c.*479C>T (n.*479C>T)
n.862C>T
c.-133-5111C>T (n.-133-5111C>T)
c.759C>T (p.Thr253=)
c.846C>T (p.Thr282=)
c.501C>T (p.Thr167=)
c.849C>T (p.Thr283=)
c.747C>T (p.Thr249=)
c.690C>T (p.Thr230=)
c.753C>T (p.Thr251=)
c.741C>T (p.Thr247=)
 ClinVar dbSNP
2g.144403961G>CCA429218479ZEB2c.*611C>G (n.*611C>G)
c.-16C>G (n.-16C>G)
c.762C>G (p.Thr254=)
n.731C>G
c.426C>G (p.Thr142=)
c.*479C>G (n.*479C>G)
n.862C>G
c.-133-5111C>G (n.-133-5111C>G)
c.759C>G (p.Thr253=)
c.846C>G (p.Thr282=)
c.501C>G (p.Thr167=)
c.849C>G (p.Thr283=)
c.747C>G (p.Thr249=)
c.690C>G (p.Thr230=)
c.753C>G (p.Thr251=)
c.741C>G (p.Thr247=)
2g.144403961G=CA1294887177ZEB2c.*611C= (n.*611C=)
c.-16C= (n.-16C=)
c.762C= (p.Thr254=)
n.731C=
c.426C= (p.Thr142=)
c.*479C= (n.*479C=)
n.862C=
c.-133-5111C= (n.-133-5111C=)
c.759C= (p.Thr253=)
c.846C= (p.Thr282=)
c.501C= (p.Thr167=)
c.849C= (p.Thr283=)
c.747C= (p.Thr249=)
c.690C= (p.Thr230=)
c.753C= (p.Thr251=)
c.741C= (p.Thr247=)
2g.144403961G>TCA1898421ZEB2c.*611C>A (n.*611C>A)
c.-16C>A (n.-16C>A)
c.762C>A (p.Thr254=)
n.731C>A
c.426C>A (p.Thr142=)
c.*479C>A (n.*479C>A)
n.862C>A
c.-133-5111C>A (n.-133-5111C>A)
c.759C>A (p.Thr253=)
c.846C>A (p.Thr282=)
c.501C>A (p.Thr167=)
c.849C>A (p.Thr283=)
c.747C>A (p.Thr249=)
c.690C>A (p.Thr230=)
c.753C>A (p.Thr251=)
c.741C>A (p.Thr247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403961_144403963delinsGGTCA1294887176ZEB2c.*609_*611delinsACC (n.*609_*611delinsACC)
c.-18_-16delinsACC (n.-18_-16delinsACC)
c.760_762delinsACC (p.Thr254=)
n.729_731delinsACC
c.424_426delinsACC (p.Thr142=)
c.*477_*479delinsACC (n.*477_*479delinsACC)
n.860_862delinsACC
c.-133-5113_-133-5111delinsACC (n.-133-5113_-133-5111delinsACC)
c.757_759delinsACC (p.Thr253=)
c.844_846delinsACC (p.Thr282=)
c.499_501delinsACC (p.Thr167=)
c.847_849delinsACC (p.Thr283=)
c.745_747delinsACC (p.Thr249=)
c.688_690delinsACC (p.Thr230=)
c.751_753delinsACC (p.Thr251=)
c.739_741delinsACC (p.Thr247=)
2g.144403962G>ACA348714650ZEB2c.*610C>T (n.*610C>T)
c.-17C>T (n.-17C>T)
c.761C>T (p.Thr254Ile)
n.730C>T
c.425C>T (p.Thr142Ile)
c.*478C>T (n.*478C>T)
n.861C>T
c.-133-5112C>T (n.-133-5112C>T)
c.758C>T (p.Thr253Ile)
c.845C>T (p.Thr282Ile)
c.500C>T (p.Thr167Ile)
c.848C>T (p.Thr283Ile)
c.746C>T (p.Thr249Ile)
c.689C>T (p.Thr230Ile)
c.752C>T (p.Thr251Ile)
c.740C>T (p.Thr247Ile)
2g.144403962G>CCA348714649ZEB2c.*610C>G (n.*610C>G)
c.-17C>G (n.-17C>G)
c.761C>G (p.Thr254Ser)
n.730C>G
c.425C>G (p.Thr142Ser)
c.*478C>G (n.*478C>G)
n.861C>G
c.-133-5112C>G (n.-133-5112C>G)
c.758C>G (p.Thr253Ser)
c.845C>G (p.Thr282Ser)
c.500C>G (p.Thr167Ser)
c.848C>G (p.Thr283Ser)
c.746C>G (p.Thr249Ser)
c.689C>G (p.Thr230Ser)
c.752C>G (p.Thr251Ser)
c.740C>G (p.Thr247Ser)
2g.144403962G>TCA348714651ZEB2c.*610C>A (n.*610C>A)
c.-17C>A (n.-17C>A)
c.761C>A (p.Thr254Asn)
n.730C>A
c.425C>A (p.Thr142Asn)
c.*478C>A (n.*478C>A)
n.861C>A
c.-133-5112C>A (n.-133-5112C>A)
c.758C>A (p.Thr253Asn)
c.845C>A (p.Thr282Asn)
c.500C>A (p.Thr167Asn)
c.848C>A (p.Thr283Asn)
c.746C>A (p.Thr249Asn)
c.689C>A (p.Thr230Asn)
c.752C>A (p.Thr251Asn)
c.740C>A (p.Thr247Asn)
 COSMIC
2g.144403963_144403964dupCA253279ZEB2c.*609_*610dup (n.*609_*610dup)
c.-18_-17dup (n.-18_-17dup)
c.760_761dup (p.Gln255ProfsTer8)
n.729_730dup
c.424_425dup (p.Gln143ProfsTer8)
c.*477_*478dup (n.*477_*478dup)
n.860_861dup
c.-133-5113_-133-5112dup (n.-133-5113_-133-5112dup)
c.757_758dup (p.Gln254ProfsTer8)
c.844_845dup (p.Gln283ProfsTer8)
c.499_500dup (p.Gln168ProfsTer8)
c.847_848dup (p.Gln284ProfsTer8)
c.745_746dup (p.Gln250ProfsTer8)
c.688_689dup (p.Gln231ProfsTer8)
c.751_752dup (p.Gln252ProfsTer8)
c.739_740dup (p.Gln248ProfsTer8)
 ClinVar dbSNP
2g.144403963_144403964delCA658657064ZEB2c.*609_*610del (n.*609_*610del)
c.-18_-17del (n.-18_-17del)
c.760_761del (p.Thr254ProfsTer25)
n.729_730del
c.424_425del (p.Thr142ProfsTer25)
c.*477_*478del (n.*477_*478del)
n.860_861del
c.-133-5113_-133-5112del (n.-133-5113_-133-5112del)
c.757_758del (p.Thr253ProfsTer25)
c.844_845del (p.Thr282ProfsTer25)
c.499_500del (p.Thr167ProfsTer25)
c.847_848del (p.Thr283ProfsTer25)
c.745_746del (p.Thr249ProfsTer25)
c.688_689del (p.Thr230ProfsTer25)
c.751_752del (p.Thr251ProfsTer25)
c.739_740del (p.Thr247ProfsTer25)
 ClinVar dbSNP
2g.144403963T>ACA348714652ZEB2c.*609A>T (n.*609A>T)
c.-18A>T (n.-18A>T)
c.760A>T (p.Thr254Ser)
n.729A>T
c.424A>T (p.Thr142Ser)
c.*477A>T (n.*477A>T)
n.860A>T
c.-133-5113A>T (n.-133-5113A>T)
c.757A>T (p.Thr253Ser)
c.844A>T (p.Thr282Ser)
c.499A>T (p.Thr167Ser)
c.847A>T (p.Thr283Ser)
c.745A>T (p.Thr249Ser)
c.688A>T (p.Thr230Ser)
c.751A>T (p.Thr251Ser)
c.739A>T (p.Thr247Ser)
2g.144403963T>CCA348714653ZEB2c.*609A>G (n.*609A>G)
c.-18A>G (n.-18A>G)
c.760A>G (p.Thr254Ala)
n.729A>G
c.424A>G (p.Thr142Ala)
c.*477A>G (n.*477A>G)
n.860A>G
c.-133-5113A>G (n.-133-5113A>G)
c.757A>G (p.Thr253Ala)
c.844A>G (p.Thr282Ala)
c.499A>G (p.Thr167Ala)
c.847A>G (p.Thr283Ala)
c.745A>G (p.Thr249Ala)
c.688A>G (p.Thr230Ala)
c.751A>G (p.Thr251Ala)
c.739A>G (p.Thr247Ala)
 gnomAD v4
2g.144403963T>GCA348714654ZEB2c.*609A>C (n.*609A>C)
c.-18A>C (n.-18A>C)
c.760A>C (p.Thr254Pro)
n.729A>C
c.424A>C (p.Thr142Pro)
c.*477A>C (n.*477A>C)
n.860A>C
c.-133-5113A>C (n.-133-5113A>C)
c.757A>C (p.Thr253Pro)
c.844A>C (p.Thr282Pro)
c.499A>C (p.Thr167Pro)
c.847A>C (p.Thr283Pro)
c.745A>C (p.Thr249Pro)
c.688A>C (p.Thr230Pro)
c.751A>C (p.Thr251Pro)
c.739A>C (p.Thr247Pro)
 dbSNP
2g.144403963T=CA1294887178ZEB2c.*609A= (n.*609A=)
c.-18A= (n.-18A=)
c.760A= (p.Thr254=)
n.729A=
c.424A= (p.Thr142=)
c.*477A= (n.*477A=)
n.860A=
c.-133-5113A= (n.-133-5113A=)
c.757A= (p.Thr253=)
c.844A= (p.Thr282=)
c.499A= (p.Thr167=)
c.847A= (p.Thr283=)
c.745A= (p.Thr249=)
c.688A= (p.Thr230=)
c.751A= (p.Thr251=)
c.739A= (p.Thr247=)
2g.144403964G>ACA291665ZEB2c.*608C>T (n.*608C>T)
c.-19C>T (n.-19C>T)
c.759C>T (p.Arg253=)
n.728C>T
c.423C>T (p.Arg141=)
c.*476C>T (n.*476C>T)
n.859C>T
c.-133-5114C>T (n.-133-5114C>T)
c.756C>T (p.Arg252=)
c.843C>T (p.Arg281=)
c.498C>T (p.Arg166=)
c.846C>T (p.Arg282=)
c.744C>T (p.Arg248=)
c.687C>T (p.Arg229=)
c.750C>T (p.Arg250=)
c.738C>T (p.Arg246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403964G>CCA429218484ZEB2c.*608C>G (n.*608C>G)
c.-19C>G (n.-19C>G)
c.759C>G (p.Arg253=)
n.728C>G
c.423C>G (p.Arg141=)
c.*476C>G (n.*476C>G)
n.859C>G
c.-133-5114C>G (n.-133-5114C>G)
c.756C>G (p.Arg252=)
c.843C>G (p.Arg281=)
c.498C>G (p.Arg166=)
c.846C>G (p.Arg282=)
c.744C>G (p.Arg248=)
c.687C>G (p.Arg229=)
c.750C>G (p.Arg250=)
c.738C>G (p.Arg246=)
2g.144403964G=CA1294887179ZEB2c.*608C= (n.*608C=)
c.-19C= (n.-19C=)
c.759C= (p.Arg253=)
n.728C=
c.423C= (p.Arg141=)
c.*476C= (n.*476C=)
n.859C=
c.-133-5114C= (n.-133-5114C=)
c.756C= (p.Arg252=)
c.843C= (p.Arg281=)
c.498C= (p.Arg166=)
c.846C= (p.Arg282=)
c.744C= (p.Arg248=)
c.687C= (p.Arg229=)
c.750C= (p.Arg250=)
c.738C= (p.Arg246=)
2g.144403964G>TCA429218485ZEB2c.*608C>A (n.*608C>A)
c.-19C>A (n.-19C>A)
c.759C>A (p.Arg253=)
n.728C>A
c.423C>A (p.Arg141=)
c.*476C>A (n.*476C>A)
n.859C>A
c.-133-5114C>A (n.-133-5114C>A)
c.756C>A (p.Arg252=)
c.843C>A (p.Arg281=)
c.498C>A (p.Arg166=)
c.846C>A (p.Arg282=)
c.744C>A (p.Arg248=)
c.687C>A (p.Arg229=)
c.750C>A (p.Arg250=)
c.738C>A (p.Arg246=)
2g.144403965C>ACA348714655ZEB2c.*607G>T (n.*607G>T)
c.-20G>T (n.-20G>T)
c.758G>T (p.Arg253Leu)
n.727G>T
c.422G>T (p.Arg141Leu)
c.*475G>T (n.*475G>T)
n.858G>T
c.-133-5115G>T (n.-133-5115G>T)
c.755G>T (p.Arg252Leu)
c.842G>T (p.Arg281Leu)
c.497G>T (p.Arg166Leu)
c.845G>T (p.Arg282Leu)
c.743G>T (p.Arg248Leu)
c.686G>T (p.Arg229Leu)
c.749G>T (p.Arg250Leu)
c.737G>T (p.Arg246Leu)
2g.144403965C>GCA348714656ZEB2c.*607G>C (n.*607G>C)
c.-20G>C (n.-20G>C)
c.758G>C (p.Arg253Pro)
n.727G>C
c.422G>C (p.Arg141Pro)
c.*475G>C (n.*475G>C)
n.858G>C
c.-133-5115G>C (n.-133-5115G>C)
c.755G>C (p.Arg252Pro)
c.842G>C (p.Arg281Pro)
c.497G>C (p.Arg166Pro)
c.845G>C (p.Arg282Pro)
c.743G>C (p.Arg248Pro)
c.686G>C (p.Arg229Pro)
c.749G>C (p.Arg250Pro)
c.737G>C (p.Arg246Pro)
2g.144403965C>TCA348714657ZEB2c.*607G>A (n.*607G>A)
c.-20G>A (n.-20G>A)
c.758G>A (p.Arg253His)
n.727G>A
c.422G>A (p.Arg141His)
c.*475G>A (n.*475G>A)
n.858G>A
c.-133-5115G>A (n.-133-5115G>A)
c.755G>A (p.Arg252His)
c.842G>A (p.Arg281His)
c.497G>A (p.Arg166His)
c.845G>A (p.Arg282His)
c.743G>A (p.Arg248His)
c.686G>A (p.Arg229His)
c.749G>A (p.Arg250His)
c.737G>A (p.Arg246His)
 gnomAD v4 COSMIC
2g.144403966G>ACA1898422ZEB2c.*606C>T (n.*606C>T)
c.-21C>T (n.-21C>T)
c.757C>T (p.Arg253Cys)
n.726C>T
c.421C>T (p.Arg141Cys)
c.*474C>T (n.*474C>T)
n.857C>T
c.-133-5116C>T (n.-133-5116C>T)
c.754C>T (p.Arg252Cys)
c.841C>T (p.Arg281Cys)
c.496C>T (p.Arg166Cys)
c.844C>T (p.Arg282Cys)
c.742C>T (p.Arg248Cys)
c.685C>T (p.Arg229Cys)
c.748C>T (p.Arg250Cys)
c.736C>T (p.Arg246Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403966G>CCA348714658ZEB2c.*606C>G (n.*606C>G)
c.-21C>G (n.-21C>G)
c.757C>G (p.Arg253Gly)
n.726C>G
c.421C>G (p.Arg141Gly)
c.*474C>G (n.*474C>G)
n.857C>G
c.-133-5116C>G (n.-133-5116C>G)
c.754C>G (p.Arg252Gly)
c.841C>G (p.Arg281Gly)
c.496C>G (p.Arg166Gly)
c.844C>G (p.Arg282Gly)
c.742C>G (p.Arg248Gly)
c.685C>G (p.Arg229Gly)
c.748C>G (p.Arg250Gly)
c.736C>G (p.Arg246Gly)
2g.144403966G=CA1294887180ZEB2c.*606C= (n.*606C=)
c.-21C= (n.-21C=)
c.757C= (p.Arg253=)
n.726C=
c.421C= (p.Arg141=)
c.*474C= (n.*474C=)
n.857C=
c.-133-5116C= (n.-133-5116C=)
c.754C= (p.Arg252=)
c.841C= (p.Arg281=)
c.496C= (p.Arg166=)
c.844C= (p.Arg282=)
c.742C= (p.Arg248=)
c.685C= (p.Arg229=)
c.748C= (p.Arg250=)
c.736C= (p.Arg246=)
2g.144403966G>TCA348714659ZEB2c.*606C>A (n.*606C>A)
c.-21C>A (n.-21C>A)
c.757C>A (p.Arg253Ser)
n.726C>A
c.421C>A (p.Arg141Ser)
c.*474C>A (n.*474C>A)
n.857C>A
c.-133-5116C>A (n.-133-5116C>A)
c.754C>A (p.Arg252Ser)
c.841C>A (p.Arg281Ser)
c.496C>A (p.Arg166Ser)
c.844C>A (p.Arg282Ser)
c.742C>A (p.Arg248Ser)
c.685C>A (p.Arg229Ser)
c.748C>A (p.Arg250Ser)
c.736C>A (p.Arg246Ser)
 ClinVar dbSNP
2g.144403967G>ACA429218487ZEB2c.*605C>T (n.*605C>T)
c.-22C>T (n.-22C>T)
c.756C>T (p.Tyr252=)
n.725C>T
c.420C>T (p.Tyr140=)
c.*473C>T (n.*473C>T)
n.856C>T
c.-133-5117C>T (n.-133-5117C>T)
c.753C>T (p.Tyr251=)
c.840C>T (p.Tyr280=)
c.495C>T (p.Tyr165=)
c.843C>T (p.Tyr281=)
c.741C>T (p.Tyr247=)
c.684C>T (p.Tyr228=)
c.747C>T (p.Tyr249=)
c.735C>T (p.Tyr245=)
 ClinVar dbSNP gnomAD v4
2g.144403967G>CCA348714660ZEB2c.*605C>G (n.*605C>G)
c.-22C>G (n.-22C>G)
c.756C>G (p.Tyr252Ter)
n.725C>G
c.420C>G (p.Tyr140Ter)
c.*473C>G (n.*473C>G)
n.856C>G
c.-133-5117C>G (n.-133-5117C>G)
c.753C>G (p.Tyr251Ter)
c.840C>G (p.Tyr280Ter)
c.495C>G (p.Tyr165Ter)
c.843C>G (p.Tyr281Ter)
c.741C>G (p.Tyr247Ter)
c.684C>G (p.Tyr228Ter)
c.747C>G (p.Tyr249Ter)
c.735C>G (p.Tyr245Ter)
2g.144403967G=CA1294887181ZEB2c.*605C= (n.*605C=)
c.-22C= (n.-22C=)
c.756C= (p.Tyr252=)
n.725C=
c.420C= (p.Tyr140=)
c.*473C= (n.*473C=)
n.856C=
c.-133-5117C= (n.-133-5117C=)
c.753C= (p.Tyr251=)
c.840C= (p.Tyr280=)
c.495C= (p.Tyr165=)
c.843C= (p.Tyr281=)
c.741C= (p.Tyr247=)
c.684C= (p.Tyr228=)
c.747C= (p.Tyr249=)
c.735C= (p.Tyr245=)
2g.144403967G>TCA348714661ZEB2c.*605C>A (n.*605C>A)
c.-22C>A (n.-22C>A)
c.756C>A (p.Tyr252Ter)
n.725C>A
c.420C>A (p.Tyr140Ter)
c.*473C>A (n.*473C>A)
n.856C>A
c.-133-5117C>A (n.-133-5117C>A)
c.753C>A (p.Tyr251Ter)
c.840C>A (p.Tyr280Ter)
c.495C>A (p.Tyr165Ter)
c.843C>A (p.Tyr281Ter)
c.741C>A (p.Tyr247Ter)
c.684C>A (p.Tyr228Ter)
c.747C>A (p.Tyr249Ter)
c.735C>A (p.Tyr245Ter)
2g.144403968T>ACA348714664ZEB2c.*604A>T (n.*604A>T)
c.-23A>T (n.-23A>T)
c.755A>T (p.Tyr252Phe)
n.724A>T
c.419A>T (p.Tyr140Phe)
c.*472A>T (n.*472A>T)
n.855A>T
c.-133-5118A>T (n.-133-5118A>T)
c.752A>T (p.Tyr251Phe)
c.839A>T (p.Tyr280Phe)
c.494A>T (p.Tyr165Phe)
c.842A>T (p.Tyr281Phe)
c.740A>T (p.Tyr247Phe)
c.683A>T (p.Tyr228Phe)
c.746A>T (p.Tyr249Phe)
c.734A>T (p.Tyr245Phe)
2g.144403968T>CCA348714662ZEB2c.*604A>G (n.*604A>G)
c.-23A>G (n.-23A>G)
c.755A>G (p.Tyr252Cys)
n.724A>G
c.419A>G (p.Tyr140Cys)
c.*472A>G (n.*472A>G)
n.855A>G
c.-133-5118A>G (n.-133-5118A>G)
c.752A>G (p.Tyr251Cys)
c.839A>G (p.Tyr280Cys)
c.494A>G (p.Tyr165Cys)
c.842A>G (p.Tyr281Cys)
c.740A>G (p.Tyr247Cys)
c.683A>G (p.Tyr228Cys)
c.746A>G (p.Tyr249Cys)
c.734A>G (p.Tyr245Cys)
 gnomAD v4
2g.144403968T>GCA348714663ZEB2c.*604A>C (n.*604A>C)
c.-23A>C (n.-23A>C)
c.755A>C (p.Tyr252Ser)
n.724A>C
c.419A>C (p.Tyr140Ser)
c.*472A>C (n.*472A>C)
n.855A>C
c.-133-5118A>C (n.-133-5118A>C)
c.752A>C (p.Tyr251Ser)
c.839A>C (p.Tyr280Ser)
c.494A>C (p.Tyr165Ser)
c.842A>C (p.Tyr281Ser)
c.740A>C (p.Tyr247Ser)
c.683A>C (p.Tyr228Ser)
c.746A>C (p.Tyr249Ser)
c.734A>C (p.Tyr245Ser)
2g.144403969A>CCA348714665ZEB2c.*603T>G (n.*603T>G)
c.-24T>G (n.-24T>G)
c.754T>G (p.Tyr252Asp)
n.723T>G
c.418T>G (p.Tyr140Asp)
c.*471T>G (n.*471T>G)
n.854T>G
c.-133-5119T>G (n.-133-5119T>G)
c.751T>G (p.Tyr251Asp)
c.838T>G (p.Tyr280Asp)
c.493T>G (p.Tyr165Asp)
c.841T>G (p.Tyr281Asp)
c.739T>G (p.Tyr247Asp)
c.682T>G (p.Tyr228Asp)
c.745T>G (p.Tyr249Asp)
c.733T>G (p.Tyr245Asp)
2g.144403969A>GCA348714666ZEB2c.*603T>C (n.*603T>C)
c.-24T>C (n.-24T>C)
c.754T>C (p.Tyr252His)
n.723T>C
c.418T>C (p.Tyr140His)
c.*471T>C (n.*471T>C)
n.854T>C
c.-133-5119T>C (n.-133-5119T>C)
c.751T>C (p.Tyr251His)
c.838T>C (p.Tyr280His)
c.493T>C (p.Tyr165His)
c.841T>C (p.Tyr281His)
c.739T>C (p.Tyr247His)
c.682T>C (p.Tyr228His)
c.745T>C (p.Tyr249His)
c.733T>C (p.Tyr245His)
 COSMIC
2g.144403969A>TCA348714667ZEB2c.*603T>A (n.*603T>A)
c.-24T>A (n.-24T>A)
c.754T>A (p.Tyr252Asn)
n.723T>A
c.418T>A (p.Tyr140Asn)
c.*471T>A (n.*471T>A)
n.854T>A
c.-133-5119T>A (n.-133-5119T>A)
c.751T>A (p.Tyr251Asn)
c.838T>A (p.Tyr280Asn)
c.493T>A (p.Tyr165Asn)
c.841T>A (p.Tyr281Asn)
c.739T>A (p.Tyr247Asn)
c.682T>A (p.Tyr228Asn)
c.745T>A (p.Tyr249Asn)
c.733T>A (p.Tyr245Asn)
2g.144403970G>ACA429218489ZEB2c.*602C>T (n.*602C>T)
c.-25C>T (n.-25C>T)
c.753C>T (p.Ala251=)
n.722C>T
c.417C>T (p.Ala139=)
c.*470C>T (n.*470C>T)
n.853C>T
c.-133-5120C>T (n.-133-5120C>T)
c.750C>T (p.Ala250=)
c.837C>T (p.Ala279=)
c.492C>T (p.Ala164=)
c.840C>T (p.Ala280=)
c.738C>T (p.Ala246=)
c.681C>T (p.Ala227=)
c.744C>T (p.Ala248=)
c.732C>T (p.Ala244=)
 ClinVar
2g.144403970G>CCA429218492ZEB2c.*602C>G (n.*602C>G)
c.-25C>G (n.-25C>G)
c.753C>G (p.Ala251=)
n.722C>G
c.417C>G (p.Ala139=)
c.*470C>G (n.*470C>G)
n.853C>G
c.-133-5120C>G (n.-133-5120C>G)
c.750C>G (p.Ala250=)
c.837C>G (p.Ala279=)
c.492C>G (p.Ala164=)
c.840C>G (p.Ala280=)
c.738C>G (p.Ala246=)
c.681C>G (p.Ala227=)
c.744C>G (p.Ala248=)
c.732C>G (p.Ala244=)
2g.144403970G>TCA429218490ZEB2c.*602C>A (n.*602C>A)
c.-25C>A (n.-25C>A)
c.753C>A (p.Ala251=)
n.722C>A
c.417C>A (p.Ala139=)
c.*470C>A (n.*470C>A)
n.853C>A
c.-133-5120C>A (n.-133-5120C>A)
c.750C>A (p.Ala250=)
c.837C>A (p.Ala279=)
c.492C>A (p.Ala164=)
c.840C>A (p.Ala280=)
c.738C>A (p.Ala246=)
c.681C>A (p.Ala227=)
c.744C>A (p.Ala248=)
c.732C>A (p.Ala244=)
2g.144403971G>ACA348714668ZEB2c.*601C>T (n.*601C>T)
c.-26C>T (n.-26C>T)
c.752C>T (p.Ala251Val)
n.721C>T
c.416C>T (p.Ala139Val)
c.*469C>T (n.*469C>T)
n.852C>T
c.-133-5121C>T (n.-133-5121C>T)
c.749C>T (p.Ala250Val)
c.836C>T (p.Ala279Val)
c.491C>T (p.Ala164Val)
c.839C>T (p.Ala280Val)
c.737C>T (p.Ala246Val)
c.680C>T (p.Ala227Val)
c.743C>T (p.Ala248Val)
c.731C>T (p.Ala244Val)
2g.144403971G>CCA348714669ZEB2c.*601C>G (n.*601C>G)
c.-26C>G (n.-26C>G)
c.752C>G (p.Ala251Gly)
n.721C>G
c.416C>G (p.Ala139Gly)
c.*469C>G (n.*469C>G)
n.852C>G
c.-133-5121C>G (n.-133-5121C>G)
c.749C>G (p.Ala250Gly)
c.836C>G (p.Ala279Gly)
c.491C>G (p.Ala164Gly)
c.839C>G (p.Ala280Gly)
c.737C>G (p.Ala246Gly)
c.680C>G (p.Ala227Gly)
c.743C>G (p.Ala248Gly)
c.731C>G (p.Ala244Gly)
2g.144403971G>TCA348714670ZEB2c.*601C>A (n.*601C>A)
c.-26C>A (n.-26C>A)
c.752C>A (p.Ala251Asp)
n.721C>A
c.416C>A (p.Ala139Asp)
c.*469C>A (n.*469C>A)
n.852C>A
c.-133-5121C>A (n.-133-5121C>A)
c.749C>A (p.Ala250Asp)
c.836C>A (p.Ala279Asp)
c.491C>A (p.Ala164Asp)
c.839C>A (p.Ala280Asp)
c.737C>A (p.Ala246Asp)
c.680C>A (p.Ala227Asp)
c.743C>A (p.Ala248Asp)
c.731C>A (p.Ala244Asp)
2g.144403972C>ACA348714671ZEB2c.*600G>T (n.*600G>T)
c.-27G>T (n.-27G>T)
c.751G>T (p.Ala251Ser)
n.720G>T
c.415G>T (p.Ala139Ser)
c.*468G>T (n.*468G>T)
n.851G>T
c.-133-5122G>T (n.-133-5122G>T)
c.748G>T (p.Ala250Ser)
c.835G>T (p.Ala279Ser)
c.490G>T (p.Ala164Ser)
c.838G>T (p.Ala280Ser)
c.736G>T (p.Ala246Ser)
c.679G>T (p.Ala227Ser)
c.742G>T (p.Ala248Ser)
c.730G>T (p.Ala244Ser)
2g.144403972C=CA1294887182ZEB2c.*600G= (n.*600G=)
c.-27G= (n.-27G=)
c.751G= (p.Ala251=)
n.720G=
c.415G= (p.Ala139=)
c.*468G= (n.*468G=)
n.851G=
c.-133-5122G= (n.-133-5122G=)
c.748G= (p.Ala250=)
c.835G= (p.Ala279=)
c.490G= (p.Ala164=)
c.838G= (p.Ala280=)
c.736G= (p.Ala246=)
c.679G= (p.Ala227=)
c.742G= (p.Ala248=)
c.730G= (p.Ala244=)
2g.144403972C>GCA348714672ZEB2c.*600G>C (n.*600G>C)
c.-27G>C (n.-27G>C)
c.751G>C (p.Ala251Pro)
n.720G>C
c.415G>C (p.Ala139Pro)
c.*468G>C (n.*468G>C)
n.851G>C
c.-133-5122G>C (n.-133-5122G>C)
c.748G>C (p.Ala250Pro)
c.835G>C (p.Ala279Pro)
c.490G>C (p.Ala164Pro)
c.838G>C (p.Ala280Pro)
c.736G>C (p.Ala246Pro)
c.679G>C (p.Ala227Pro)
c.742G>C (p.Ala248Pro)
c.730G>C (p.Ala244Pro)
2g.144403972C>TCA348714673ZEB2c.*600G>A (n.*600G>A)
c.-27G>A (n.-27G>A)
c.751G>A (p.Ala251Thr)
n.720G>A
c.415G>A (p.Ala139Thr)
c.*468G>A (n.*468G>A)
n.851G>A
c.-133-5122G>A (n.-133-5122G>A)
c.748G>A (p.Ala250Thr)
c.835G>A (p.Ala279Thr)
c.490G>A (p.Ala164Thr)
c.838G>A (p.Ala280Thr)
c.736G>A (p.Ala246Thr)
c.679G>A (p.Ala227Thr)
c.742G>A (p.Ala248Thr)
c.730G>A (p.Ala244Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403973A>CCA348714674ZEB2c.*599T>G (n.*599T>G)
c.-28T>G (n.-28T>G)
c.750T>G (p.Phe250Leu)
n.719T>G
c.414T>G (p.Phe138Leu)
c.*467T>G (n.*467T>G)
n.850T>G
c.-133-5123T>G (n.-133-5123T>G)
c.747T>G (p.Phe249Leu)
c.834T>G (p.Phe278Leu)
c.489T>G (p.Phe163Leu)
c.837T>G (p.Phe279Leu)
c.735T>G (p.Phe245Leu)
c.678T>G (p.Phe226Leu)
c.741T>G (p.Phe247Leu)
c.729T>G (p.Phe243Leu)
2g.144403973A>GCA429218496ZEB2c.*599T>C (n.*599T>C)
c.-28T>C (n.-28T>C)
c.750T>C (p.Phe250=)
n.719T>C
c.414T>C (p.Phe138=)
c.*467T>C (n.*467T>C)
n.850T>C
c.-133-5123T>C (n.-133-5123T>C)
c.747T>C (p.Phe249=)
c.834T>C (p.Phe278=)
c.489T>C (p.Phe163=)
c.837T>C (p.Phe279=)
c.735T>C (p.Phe245=)
c.678T>C (p.Phe226=)
c.741T>C (p.Phe247=)
c.729T>C (p.Phe243=)
 COSMIC
2g.144403973A>TCA348714675ZEB2c.*599T>A (n.*599T>A)
c.-28T>A (n.-28T>A)
c.750T>A (p.Phe250Leu)
n.719T>A
c.414T>A (p.Phe138Leu)
c.*467T>A (n.*467T>A)
n.850T>A
c.-133-5123T>A (n.-133-5123T>A)
c.747T>A (p.Phe249Leu)
c.834T>A (p.Phe278Leu)
c.489T>A (p.Phe163Leu)
c.837T>A (p.Phe279Leu)
c.735T>A (p.Phe245Leu)
c.678T>A (p.Phe226Leu)
c.741T>A (p.Phe247Leu)
c.729T>A (p.Phe243Leu)
2g.144403974A>CCA348714676ZEB2c.*598T>G (n.*598T>G)
c.-29T>G (n.-29T>G)
c.749T>G (p.Phe250Cys)
n.718T>G
c.413T>G (p.Phe138Cys)
c.*466T>G (n.*466T>G)
n.849T>G
c.-133-5124T>G (n.-133-5124T>G)
c.746T>G (p.Phe249Cys)
c.833T>G (p.Phe278Cys)
c.488T>G (p.Phe163Cys)
c.836T>G (p.Phe279Cys)
c.734T>G (p.Phe245Cys)
c.677T>G (p.Phe226Cys)
c.740T>G (p.Phe247Cys)
c.728T>G (p.Phe243Cys)
2g.144403974A>GCA348714678ZEB2c.*598T>C (n.*598T>C)
c.-29T>C (n.-29T>C)
c.749T>C (p.Phe250Ser)
n.718T>C
c.413T>C (p.Phe138Ser)
c.*466T>C (n.*466T>C)
n.849T>C
c.-133-5124T>C (n.-133-5124T>C)
c.746T>C (p.Phe249Ser)
c.833T>C (p.Phe278Ser)
c.488T>C (p.Phe163Ser)
c.836T>C (p.Phe279Ser)
c.734T>C (p.Phe245Ser)
c.677T>C (p.Phe226Ser)
c.740T>C (p.Phe247Ser)
c.728T>C (p.Phe243Ser)
2g.144403974A>TCA348714677ZEB2c.*598T>A (n.*598T>A)
c.-29T>A (n.-29T>A)
c.749T>A (p.Phe250Tyr)
n.718T>A
c.413T>A (p.Phe138Tyr)
c.*466T>A (n.*466T>A)
n.849T>A
c.-133-5124T>A (n.-133-5124T>A)
c.746T>A (p.Phe249Tyr)
c.833T>A (p.Phe278Tyr)
c.488T>A (p.Phe163Tyr)
c.836T>A (p.Phe279Tyr)
c.734T>A (p.Phe245Tyr)
c.677T>A (p.Phe226Tyr)
c.740T>A (p.Phe247Tyr)
c.728T>A (p.Phe243Tyr)
2g.144403975A>CCA348714679ZEB2c.*597T>G (n.*597T>G)
c.-30T>G (n.-30T>G)
c.748T>G (p.Phe250Val)
n.717T>G
c.412T>G (p.Phe138Val)
c.*465T>G (n.*465T>G)
n.848T>G
c.-133-5125T>G (n.-133-5125T>G)
c.745T>G (p.Phe249Val)
c.832T>G (p.Phe278Val)
c.487T>G (p.Phe163Val)
c.835T>G (p.Phe279Val)
c.733T>G (p.Phe245Val)
c.676T>G (p.Phe226Val)
c.739T>G (p.Phe247Val)
c.727T>G (p.Phe243Val)
2g.144403975A>GCA348714681ZEB2c.*597T>C (n.*597T>C)
c.-30T>C (n.-30T>C)
c.748T>C (p.Phe250Leu)
n.717T>C
c.412T>C (p.Phe138Leu)
c.*465T>C (n.*465T>C)
n.848T>C
c.-133-5125T>C (n.-133-5125T>C)
c.745T>C (p.Phe249Leu)
c.832T>C (p.Phe278Leu)
c.487T>C (p.Phe163Leu)
c.835T>C (p.Phe279Leu)
c.733T>C (p.Phe245Leu)
c.676T>C (p.Phe226Leu)
c.739T>C (p.Phe247Leu)
c.727T>C (p.Phe243Leu)
2g.144403975A>TCA348714680ZEB2c.*597T>A (n.*597T>A)
c.-30T>A (n.-30T>A)
c.748T>A (p.Phe250Ile)
n.717T>A
c.412T>A (p.Phe138Ile)
c.*465T>A (n.*465T>A)
n.848T>A
c.-133-5125T>A (n.-133-5125T>A)
c.745T>A (p.Phe249Ile)
c.832T>A (p.Phe278Ile)
c.487T>A (p.Phe163Ile)
c.835T>A (p.Phe279Ile)
c.733T>A (p.Phe245Ile)
c.676T>A (p.Phe226Ile)
c.739T>A (p.Phe247Ile)
c.727T>A (p.Phe243Ile)
2g.144403976C>ACA1898423ZEB2c.*596G>T (n.*596G>T)
c.-31G>T (n.-31G>T)
c.747G>T (p.Thr249=)
n.716G>T
c.411G>T (p.Thr137=)
c.*464G>T (n.*464G>T)
n.847G>T
c.-133-5126G>T (n.-133-5126G>T)
c.744G>T (p.Thr248=)
c.831G>T (p.Thr277=)
c.486G>T (p.Thr162=)
c.834G>T (p.Thr278=)
c.732G>T (p.Thr244=)
c.675G>T (p.Thr225=)
c.738G>T (p.Thr246=)
c.726G>T (p.Thr242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403976C=CA1294887183ZEB2c.*596G= (n.*596G=)
c.-31G= (n.-31G=)
c.747G= (p.Thr249=)
n.716G=
c.411G= (p.Thr137=)
c.*464G= (n.*464G=)
n.847G=
c.-133-5126G= (n.-133-5126G=)
c.744G= (p.Thr248=)
c.831G= (p.Thr277=)
c.486G= (p.Thr162=)
c.834G= (p.Thr278=)
c.732G= (p.Thr244=)
c.675G= (p.Thr225=)
c.738G= (p.Thr246=)
c.726G= (p.Thr242=)
2g.144403976C>GCA429218498ZEB2c.*596G>C (n.*596G>C)
c.-31G>C (n.-31G>C)
c.747G>C (p.Thr249=)
n.716G>C
c.411G>C (p.Thr137=)
c.*464G>C (n.*464G>C)
n.847G>C
c.-133-5126G>C (n.-133-5126G>C)
c.744G>C (p.Thr248=)
c.831G>C (p.Thr277=)
c.486G>C (p.Thr162=)
c.834G>C (p.Thr278=)
c.732G>C (p.Thr244=)
c.675G>C (p.Thr225=)
c.738G>C (p.Thr246=)
c.726G>C (p.Thr242=)
 dbSNP gnomAD v4
2g.144403976C>TCA272832ZEB2c.*596G>A (n.*596G>A)
c.-31G>A (n.-31G>A)
c.747G>A (p.Thr249=)
n.716G>A
c.411G>A (p.Thr137=)
c.*464G>A (n.*464G>A)
n.847G>A
c.-133-5126G>A (n.-133-5126G>A)
c.744G>A (p.Thr248=)
c.831G>A (p.Thr277=)
c.486G>A (p.Thr162=)
c.834G>A (p.Thr278=)
c.732G>A (p.Thr244=)
c.675G>A (p.Thr225=)
c.738G>A (p.Thr246=)
c.726G>A (p.Thr242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144403977G>ACA348714682ZEB2c.*595C>T (n.*595C>T)
c.-32C>T (n.-32C>T)
c.746C>T (p.Thr249Met)
n.715C>T
c.410C>T (p.Thr137Met)
c.*463C>T (n.*463C>T)
n.846C>T
c.-133-5127C>T (n.-133-5127C>T)
c.743C>T (p.Thr248Met)
c.830C>T (p.Thr277Met)
c.485C>T (p.Thr162Met)
c.833C>T (p.Thr278Met)
c.731C>T (p.Thr244Met)
c.674C>T (p.Thr225Met)
c.737C>T (p.Thr246Met)
c.725C>T (p.Thr242Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144403977G>CCA348714684ZEB2c.*595C>G (n.*595C>G)
c.-32C>G (n.-32C>G)
c.746C>G (p.Thr249Arg)
n.715C>G
c.410C>G (p.Thr137Arg)
c.*463C>G (n.*463C>G)
n.846C>G
c.-133-5127C>G (n.-133-5127C>G)
c.743C>G (p.Thr248Arg)
c.830C>G (p.Thr277Arg)
c.485C>G (p.Thr162Arg)
c.833C>G (p.Thr278Arg)
c.731C>G (p.Thr244Arg)
c.674C>G (p.Thr225Arg)
c.737C>G (p.Thr246Arg)
c.725C>G (p.Thr242Arg)
2g.144403977G=CA1294887184ZEB2c.*595C= (n.*595C=)
c.-32C= (n.-32C=)
c.746C= (p.Thr249=)
n.715C=
c.410C= (p.Thr137=)
c.*463C= (n.*463C=)
n.846C=
c.-133-5127C= (n.-133-5127C=)
c.743C= (p.Thr248=)
c.830C= (p.Thr277=)
c.485C= (p.Thr162=)
c.833C= (p.Thr278=)
c.731C= (p.Thr244=)
c.674C= (p.Thr225=)
c.737C= (p.Thr246=)
c.725C= (p.Thr242=)
2g.144403977G>TCA348714683ZEB2c.*595C>A (n.*595C>A)
c.-32C>A (n.-32C>A)
c.746C>A (p.Thr249Lys)
n.715C>A
c.410C>A (p.Thr137Lys)
c.*463C>A (n.*463C>A)
n.846C>A
c.-133-5127C>A (n.-133-5127C>A)
c.743C>A (p.Thr248Lys)
c.830C>A (p.Thr277Lys)
c.485C>A (p.Thr162Lys)
c.833C>A (p.Thr278Lys)
c.731C>A (p.Thr244Lys)
c.674C>A (p.Thr225Lys)
c.737C>A (p.Thr246Lys)
c.725C>A (p.Thr242Lys)
2g.144403978T>ACA348714685ZEB2c.*594A>T (n.*594A>T)
c.-33A>T (n.-33A>T)
c.745A>T (p.Thr249Ser)
n.714A>T
c.409A>T (p.Thr137Ser)
c.*462A>T (n.*462A>T)
n.845A>T
c.-133-5128A>T (n.-133-5128A>T)
c.742A>T (p.Thr248Ser)
c.829A>T (p.Thr277Ser)
c.484A>T (p.Thr162Ser)
c.832A>T (p.Thr278Ser)
c.730A>T (p.Thr244Ser)
c.673A>T (p.Thr225Ser)
c.736A>T (p.Thr246Ser)
c.724A>T (p.Thr242Ser)
2g.144403978T>CCA348714686ZEB2c.*594A>G (n.*594A>G)
c.-33A>G (n.-33A>G)
c.745A>G (p.Thr249Ala)
n.714A>G
c.409A>G (p.Thr137Ala)
c.*462A>G (n.*462A>G)
n.845A>G
c.-133-5128A>G (n.-133-5128A>G)
c.742A>G (p.Thr248Ala)
c.829A>G (p.Thr277Ala)
c.484A>G (p.Thr162Ala)
c.832A>G (p.Thr278Ala)
c.730A>G (p.Thr244Ala)
c.673A>G (p.Thr225Ala)
c.736A>G (p.Thr246Ala)
c.724A>G (p.Thr242Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.144403978T>GCA348714687ZEB2c.*594A>C (n.*594A>C)
c.-33A>C (n.-33A>C)
c.745A>C (p.Thr249Pro)
n.714A>C
c.409A>C (p.Thr137Pro)
c.*462A>C (n.*462A>C)
n.845A>C
c.-133-5128A>C (n.-133-5128A>C)
c.742A>C (p.Thr248Pro)
c.829A>C (p.Thr277Pro)
c.484A>C (p.Thr162Pro)
c.832A>C (p.Thr278Pro)
c.730A>C (p.Thr244Pro)
c.673A>C (p.Thr225Pro)
c.736A>C (p.Thr246Pro)
c.724A>C (p.Thr242Pro)
2g.144403978T=CA1294887185ZEB2c.*594A= (n.*594A=)
c.-33A= (n.-33A=)
c.745A= (p.Thr249=)
n.714A=
c.409A= (p.Thr137=)
c.*462A= (n.*462A=)
n.845A=
c.-133-5128A= (n.-133-5128A=)
c.742A= (p.Thr248=)
c.829A= (p.Thr277=)
c.484A= (p.Thr162=)
c.832A= (p.Thr278=)
c.730A= (p.Thr244=)
c.673A= (p.Thr225=)
c.736A= (p.Thr246=)
c.724A= (p.Thr242=)
2g.144403979G>ACA429218503ZEB2c.*593C>T (n.*593C>T)
c.-34C>T (n.-34C>T)
c.744C>T (p.Tyr248=)
n.713C>T
c.408C>T (p.Tyr136=)
c.*461C>T (n.*461C>T)
n.844C>T
c.-133-5129C>T (n.-133-5129C>T)
c.741C>T (p.Tyr247=)
c.828C>T (p.Tyr276=)
c.483C>T (p.Tyr161=)
c.831C>T (p.Tyr277=)
c.729C>T (p.Tyr243=)
c.672C>T (p.Tyr224=)
c.735C>T (p.Tyr245=)
c.723C>T (p.Tyr241=)
 gnomAD v4
2g.144403979G>CCA348714688ZEB2c.*593C>G (n.*593C>G)
c.-34C>G (n.-34C>G)
c.744C>G (p.Tyr248Ter)
n.713C>G
c.408C>G (p.Tyr136Ter)
c.*461C>G (n.*461C>G)
n.844C>G
c.-133-5129C>G (n.-133-5129C>G)
c.741C>G (p.Tyr247Ter)
c.828C>G (p.Tyr276Ter)
c.483C>G (p.Tyr161Ter)
c.831C>G (p.Tyr277Ter)
c.729C>G (p.Tyr243Ter)
c.672C>G (p.Tyr224Ter)
c.735C>G (p.Tyr245Ter)
c.723C>G (p.Tyr241Ter)
2g.144403979G>TCA348714689ZEB2c.*593C>A (n.*593C>A)
c.-34C>A (n.-34C>A)
c.744C>A (p.Tyr248Ter)
n.713C>A
c.408C>A (p.Tyr136Ter)
c.*461C>A (n.*461C>A)
n.844C>A
c.-133-5129C>A (n.-133-5129C>A)
c.741C>A (p.Tyr247Ter)
c.828C>A (p.Tyr276Ter)
c.483C>A (p.Tyr161Ter)
c.831C>A (p.Tyr277Ter)
c.729C>A (p.Tyr243Ter)
c.672C>A (p.Tyr224Ter)
c.735C>A (p.Tyr245Ter)
c.723C>A (p.Tyr241Ter)
2g.144403979_144403980insACA429218504ZEB2c.*592_*593insT (n.*592_*593insT)
c.-35_-34insT (n.-35_-34insT)
c.743_744insT (p.Thr249HisfsTer?)
n.712_713insT
c.407_408insT (p.Thr137HisfsTer?)
c.*460_*461insT (n.*460_*461insT)
n.843_844insT
c.-133-5130_-133-5129insT (n.-133-5130_-133-5129insT)
c.740_741insT (p.Thr248HisfsTer?)
c.827_828insT (p.Thr277HisfsTer?)
c.482_483insT (p.Thr162HisfsTer?)
c.830_831insT (p.Thr278HisfsTer?)
c.728_729insT (p.Thr244HisfsTer?)
c.671_672insT (p.Thr225HisfsTer?)
c.734_735insT (p.Thr246HisfsTer?)
c.722_723insT (p.Thr242HisfsTer?)
2g.144403980T>ACA348714690ZEB2c.*592A>T (n.*592A>T)
c.-35A>T (n.-35A>T)
c.743A>T (p.Tyr248Phe)
n.712A>T
c.407A>T (p.Tyr136Phe)
c.*460A>T (n.*460A>T)
n.843A>T
c.-133-5130A>T (n.-133-5130A>T)
c.740A>T (p.Tyr247Phe)
c.827A>T (p.Tyr276Phe)
c.482A>T (p.Tyr161Phe)
c.830A>T (p.Tyr277Phe)
c.728A>T (p.Tyr243Phe)
c.671A>T (p.Tyr224Phe)
c.734A>T (p.Tyr245Phe)
c.722A>T (p.Tyr241Phe)
2g.144403980T>CCA348714691ZEB2c.*592A>G (n.*592A>G)
c.-35A>G (n.-35A>G)
c.743A>G (p.Tyr248Cys)
n.712A>G
c.407A>G (p.Tyr136Cys)
c.*460A>G (n.*460A>G)
n.843A>G
c.-133-5130A>G (n.-133-5130A>G)
c.740A>G (p.Tyr247Cys)
c.827A>G (p.Tyr276Cys)
c.482A>G (p.Tyr161Cys)
c.830A>G (p.Tyr277Cys)
c.728A>G (p.Tyr243Cys)
c.671A>G (p.Tyr224Cys)
c.734A>G (p.Tyr245Cys)
c.722A>G (p.Tyr241Cys)
 ClinVar gnomAD v4
2g.144403980T>GCA348714692ZEB2c.*592A>C (n.*592A>C)
c.-35A>C (n.-35A>C)
c.743A>C (p.Tyr248Ser)
n.712A>C
c.407A>C (p.Tyr136Ser)
c.*460A>C (n.*460A>C)
n.843A>C
c.-133-5130A>C (n.-133-5130A>C)
c.740A>C (p.Tyr247Ser)
c.827A>C (p.Tyr276Ser)
c.482A>C (p.Tyr161Ser)
c.830A>C (p.Tyr277Ser)
c.728A>C (p.Tyr243Ser)
c.671A>C (p.Tyr224Ser)
c.734A>C (p.Tyr245Ser)
c.722A>C (p.Tyr241Ser)
2g.144403981A>CCA348714693ZEB2c.*591T>G (n.*591T>G)
c.-36T>G (n.-36T>G)
c.742T>G (p.Tyr248Asp)
n.711T>G
c.406T>G (p.Tyr136Asp)
c.*459T>G (n.*459T>G)
n.842T>G
c.-133-5131T>G (n.-133-5131T>G)
c.739T>G (p.Tyr247Asp)
c.826T>G (p.Tyr276Asp)
c.481T>G (p.Tyr161Asp)
c.829T>G (p.Tyr277Asp)
c.727T>G (p.Tyr243Asp)
c.670T>G (p.Tyr224Asp)
c.733T>G (p.Tyr245Asp)
c.721T>G (p.Tyr241Asp)
2g.144403981A>GCA348714694ZEB2c.*591T>C (n.*591T>C)
c.-36T>C (n.-36T>C)
c.742T>C (p.Tyr248His)
n.711T>C
c.406T>C (p.Tyr136His)
c.*459T>C (n.*459T>C)
n.842T>C
c.-133-5131T>C (n.-133-5131T>C)
c.739T>C (p.Tyr247His)
c.826T>C (p.Tyr276His)
c.481T>C (p.Tyr161His)
c.829T>C (p.Tyr277His)
c.727T>C (p.Tyr243His)
c.670T>C (p.Tyr224His)
c.733T>C (p.Tyr245His)
c.721T>C (p.Tyr241His)
 gnomAD v4
2g.144403981A>TCA348714695ZEB2c.*591T>A (n.*591T>A)
c.-36T>A (n.-36T>A)
c.742T>A (p.Tyr248Asn)
n.711T>A
c.406T>A (p.Tyr136Asn)
c.*459T>A (n.*459T>A)
n.842T>A
c.-133-5131T>A (n.-133-5131T>A)
c.739T>A (p.Tyr247Asn)
c.826T>A (p.Tyr276Asn)
c.481T>A (p.Tyr161Asn)
c.829T>A (p.Tyr277Asn)
c.727T>A (p.Tyr243Asn)
c.670T>A (p.Tyr224Asn)
c.733T>A (p.Tyr245Asn)
c.721T>A (p.Tyr241Asn)
2g.144403982G>ACA429218507ZEB2c.*590C>T (n.*590C>T)
c.-37C>T (n.-37C>T)
c.741C>T (p.Ser247=)
n.710C>T
c.405C>T (p.Ser135=)
c.*458C>T (n.*458C>T)
n.841C>T
c.-133-5132C>T (n.-133-5132C>T)
c.738C>T (p.Ser246=)
c.825C>T (p.Ser275=)
c.480C>T (p.Ser160=)
c.828C>T (p.Ser276=)
c.726C>T (p.Ser242=)
c.669C>T (p.Ser223=)
c.732C>T (p.Ser244=)
c.720C>T (p.Ser240=)
 ClinVar dbSNP
2g.144403982G>CCA348714697ZEB2c.*590C>G (n.*590C>G)
c.-37C>G (n.-37C>G)
c.741C>G (p.Ser247Arg)
n.710C>G
c.405C>G (p.Ser135Arg)
c.*458C>G (n.*458C>G)
n.841C>G
c.-133-5132C>G (n.-133-5132C>G)
c.738C>G (p.Ser246Arg)
c.825C>G (p.Ser275Arg)
c.480C>G (p.Ser160Arg)
c.828C>G (p.Ser276Arg)
c.726C>G (p.Ser242Arg)
c.669C>G (p.Ser223Arg)
c.732C>G (p.Ser244Arg)
c.720C>G (p.Ser240Arg)
2g.144403982G=CA1294887186ZEB2c.*590C= (n.*590C=)
c.-37C= (n.-37C=)
c.741C= (p.Ser247=)
n.710C=
c.405C= (p.Ser135=)
c.*458C= (n.*458C=)
n.841C=
c.-133-5132C= (n.-133-5132C=)
c.738C= (p.Ser246=)
c.825C= (p.Ser275=)
c.480C= (p.Ser160=)
c.828C= (p.Ser276=)
c.726C= (p.Ser242=)
c.669C= (p.Ser223=)
c.732C= (p.Ser244=)
c.720C= (p.Ser240=)
2g.144403982G>TCA348714696ZEB2c.*590C>A (n.*590C>A)
c.-37C>A (n.-37C>A)
c.741C>A (p.Ser247Arg)
n.710C>A
c.405C>A (p.Ser135Arg)
c.*458C>A (n.*458C>A)
n.841C>A
c.-133-5132C>A (n.-133-5132C>A)
c.738C>A (p.Ser246Arg)
c.825C>A (p.Ser275Arg)
c.480C>A (p.Ser160Arg)
c.828C>A (p.Ser276Arg)
c.726C>A (p.Ser242Arg)
c.669C>A (p.Ser223Arg)
c.732C>A (p.Ser244Arg)
c.720C>A (p.Ser240Arg)
2g.144403983C>ACA348714698ZEB2c.*589G>T (n.*589G>T)
c.-38G>T (n.-38G>T)
c.740G>T (p.Ser247Ile)
n.709G>T
c.404G>T (p.Ser135Ile)
c.*457G>T (n.*457G>T)
n.840G>T
c.-133-5133G>T (n.-133-5133G>T)
c.737G>T (p.Ser246Ile)
c.824G>T (p.Ser275Ile)
c.479G>T (p.Ser160Ile)
c.827G>T (p.Ser276Ile)
c.725G>T (p.Ser242Ile)
c.668G>T (p.Ser223Ile)
c.731G>T (p.Ser244Ile)
c.719G>T (p.Ser240Ile)
2g.144403983C=CA1294887187ZEB2c.*589G= (n.*589G=)
c.-38G= (n.-38G=)
c.740G= (p.Ser247=)
n.709G=
c.404G= (p.Ser135=)
c.*457G= (n.*457G=)
n.840G=
c.-133-5133G= (n.-133-5133G=)
c.737G= (p.Ser246=)
c.824G= (p.Ser275=)
c.479G= (p.Ser160=)
c.827G= (p.Ser276=)
c.725G= (p.Ser242=)
c.668G= (p.Ser223=)
c.731G= (p.Ser244=)
c.719G= (p.Ser240=)
2g.144403983C>GCA348714699ZEB2c.*589G>C (n.*589G>C)
c.-38G>C (n.-38G>C)
c.740G>C (p.Ser247Thr)
n.709G>C
c.404G>C (p.Ser135Thr)
c.*457G>C (n.*457G>C)
n.840G>C
c.-133-5133G>C (n.-133-5133G>C)
c.737G>C (p.Ser246Thr)
c.824G>C (p.Ser275Thr)
c.479G>C (p.Ser160Thr)
c.827G>C (p.Ser276Thr)
c.725G>C (p.Ser242Thr)
c.668G>C (p.Ser223Thr)
c.731G>C (p.Ser244Thr)
c.719G>C (p.Ser240Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.144403983C>TCA348714700ZEB2c.*589G>A (n.*589G>A)
c.-38G>A (n.-38G>A)
c.740G>A (p.Ser247Asn)
n.709G>A
c.404G>A (p.Ser135Asn)
c.*457G>A (n.*457G>A)
n.840G>A
c.-133-5133G>A (n.-133-5133G>A)
c.737G>A (p.Ser246Asn)
c.824G>A (p.Ser275Asn)
c.479G>A (p.Ser160Asn)
c.827G>A (p.Ser276Asn)
c.725G>A (p.Ser242Asn)
c.668G>A (p.Ser223Asn)
c.731G>A (p.Ser244Asn)
c.719G>A (p.Ser240Asn)
2g.144403984T>ACA348714701ZEB2c.*588A>T (n.*588A>T)
c.-39A>T (n.-39A>T)
c.739A>T (p.Ser247Cys)
n.708A>T
c.403A>T (p.Ser135Cys)
c.*456A>T (n.*456A>T)
n.839A>T
c.-133-5134A>T (n.-133-5134A>T)
c.736A>T (p.Ser246Cys)
c.823A>T (p.Ser275Cys)
c.478A>T (p.Ser160Cys)
c.826A>T (p.Ser276Cys)
c.724A>T (p.Ser242Cys)
c.667A>T (p.Ser223Cys)
c.730A>T (p.Ser244Cys)
c.718A>T (p.Ser240Cys)
2g.144403984T>CCA348714702ZEB2c.*588A>G (n.*588A>G)
c.-39A>G (n.-39A>G)
c.739A>G (p.Ser247Gly)
n.708A>G
c.403A>G (p.Ser135Gly)
c.*456A>G (n.*456A>G)
n.839A>G
c.-133-5134A>G (n.-133-5134A>G)
c.736A>G (p.Ser246Gly)
c.823A>G (p.Ser275Gly)
c.478A>G (p.Ser160Gly)
c.826A>G (p.Ser276Gly)
c.724A>G (p.Ser242Gly)
c.667A>G (p.Ser223Gly)
c.730A>G (p.Ser244Gly)
c.718A>G (p.Ser240Gly)
 dbSNP gnomAD v2
2g.144403984T>GCA348714703ZEB2c.*588A>C (n.*588A>C)
c.-39A>C (n.-39A>C)
c.739A>C (p.Ser247Arg)
n.708A>C
c.403A>C (p.Ser135Arg)
c.*456A>C (n.*456A>C)
n.839A>C
c.-133-5134A>C (n.-133-5134A>C)
c.736A>C (p.Ser246Arg)
c.823A>C (p.Ser275Arg)
c.478A>C (p.Ser160Arg)
c.826A>C (p.Ser276Arg)
c.724A>C (p.Ser242Arg)
c.667A>C (p.Ser223Arg)
c.730A>C (p.Ser244Arg)
c.718A>C (p.Ser240Arg)
2g.144403984T=CA1294887188ZEB2c.*588A= (n.*588A=)
c.-39A= (n.-39A=)
c.739A= (p.Ser247=)
n.708A=
c.403A= (p.Ser135=)
c.*456A= (n.*456A=)
n.839A=
c.-133-5134A= (n.-133-5134A=)
c.736A= (p.Ser246=)
c.823A= (p.Ser275=)
c.478A= (p.Ser160=)
c.826A= (p.Ser276=)
c.724A= (p.Ser242=)
c.667A= (p.Ser223=)
c.730A= (p.Ser244=)
c.718A= (p.Ser240=)
2g.144403985A>CCA348714704ZEB2c.*587T>G (n.*587T>G)
c.-40T>G (n.-40T>G)
c.738T>G (p.Cys246Trp)
n.707T>G
c.402T>G (p.Cys134Trp)
c.*455T>G (n.*455T>G)
n.838T>G
c.-133-5135T>G (n.-133-5135T>G)
c.735T>G (p.Cys245Trp)
c.822T>G (p.Cys274Trp)
c.477T>G (p.Cys159Trp)
c.825T>G (p.Cys275Trp)
c.723T>G (p.Cys241Trp)
c.666T>G (p.Cys222Trp)
c.729T>G (p.Cys243Trp)
c.717T>G (p.Cys239Trp)
2g.144403985A>GCA429218510ZEB2c.*587T>C (n.*587T>C)
c.-40T>C (n.-40T>C)
c.738T>C (p.Cys246=)
n.707T>C
c.402T>C (p.Cys134=)
c.*455T>C (n.*455T>C)
n.838T>C
c.-133-5135T>C (n.-133-5135T>C)
c.735T>C (p.Cys245=)
c.822T>C (p.Cys274=)
c.477T>C (p.Cys159=)
c.825T>C (p.Cys275=)
c.723T>C (p.Cys241=)
c.666T>C (p.Cys222=)
c.729T>C (p.Cys243=)
c.717T>C (p.Cys239=)
2g.144403985A>TCA348714705ZEB2c.*587T>A (n.*587T>A)
c.-40T>A (n.-40T>A)
c.738T>A (p.Cys246Ter)
n.707T>A
c.402T>A (p.Cys134Ter)
c.*455T>A (n.*455T>A)
n.838T>A
c.-133-5135T>A (n.-133-5135T>A)
c.735T>A (p.Cys245Ter)
c.822T>A (p.Cys274Ter)
c.477T>A (p.Cys159Ter)
c.825T>A (p.Cys275Ter)
c.723T>A (p.Cys241Ter)
c.666T>A (p.Cys222Ter)
c.729T>A (p.Cys243Ter)
c.717T>A (p.Cys239Ter)
2g.144403986C>ACA348714706ZEB2c.*586G>T (n.*586G>T)
c.-41G>T (n.-41G>T)
c.737G>T (p.Cys246Phe)
n.706G>T
c.401G>T (p.Cys134Phe)
c.*454G>T (n.*454G>T)
n.837G>T
c.-133-5136G>T (n.-133-5136G>T)
c.734G>T (p.Cys245Phe)
c.821G>T (p.Cys274Phe)
c.476G>T (p.Cys159Phe)
c.824G>T (p.Cys275Phe)
c.722G>T (p.Cys241Phe)
c.665G>T (p.Cys222Phe)
c.728G>T (p.Cys243Phe)
c.716G>T (p.Cys239Phe)
2g.144403986C>GCA348714707ZEB2c.*586G>C (n.*586G>C)
c.-41G>C (n.-41G>C)
c.737G>C (p.Cys246Ser)
n.706G>C
c.401G>C (p.Cys134Ser)
c.*454G>C (n.*454G>C)
n.837G>C
c.-133-5136G>C (n.-133-5136G>C)
c.734G>C (p.Cys245Ser)
c.821G>C (p.Cys274Ser)
c.476G>C (p.Cys159Ser)
c.824G>C (p.Cys275Ser)
c.722G>C (p.Cys241Ser)
c.665G>C (p.Cys222Ser)
c.728G>C (p.Cys243Ser)
c.716G>C (p.Cys239Ser)
2g.144403986C>TCA348714708ZEB2c.*586G>A (n.*586G>A)
c.-41G>A (n.-41G>A)
c.737G>A (p.Cys246Tyr)
n.706G>A
c.401G>A (p.Cys134Tyr)
c.*454G>A (n.*454G>A)
n.837G>A
c.-133-5136G>A (n.-133-5136G>A)
c.734G>A (p.Cys245Tyr)
c.821G>A (p.Cys274Tyr)
c.476G>A (p.Cys159Tyr)
c.824G>A (p.Cys275Tyr)
c.722G>A (p.Cys241Tyr)
c.665G>A (p.Cys222Tyr)
c.728G>A (p.Cys243Tyr)
c.716G>A (p.Cys239Tyr)
2g.144403987A=CA1294887189ZEB2c.*585T= (n.*585T=)
c.-42T= (n.-42T=)
c.736T= (p.Cys246=)
n.705T=
c.400T= (p.Cys134=)
c.*453T= (n.*453T=)
n.836T=
c.-133-5137T= (n.-133-5137T=)
c.733T= (p.Cys245=)
c.820T= (p.Cys274=)
c.475T= (p.Cys159=)
c.823T= (p.Cys275=)
c.721T= (p.Cys241=)
c.664T= (p.Cys222=)
c.727T= (p.Cys243=)
c.715T= (p.Cys239=)
2g.144403987A>CCA348714710ZEB2c.*585T>G (n.*585T>G)
c.-42T>G (n.-42T>G)
c.736T>G (p.Cys246Gly)
n.705T>G
c.400T>G (p.Cys134Gly)
c.*453T>G (n.*453T>G)
n.836T>G
c.-133-5137T>G (n.-133-5137T>G)
c.733T>G (p.Cys245Gly)
c.820T>G (p.Cys274Gly)
c.475T>G (p.Cys159Gly)
c.823T>G (p.Cys275Gly)
c.721T>G (p.Cys241Gly)
c.664T>G (p.Cys222Gly)
c.727T>G (p.Cys243Gly)
c.715T>G (p.Cys239Gly)
 gnomAD v4
2g.144403987A>GCA1898424ZEB2c.*585T>C (n.*585T>C)
c.-42T>C (n.-42T>C)
c.736T>C (p.Cys246Arg)
n.705T>C
c.400T>C (p.Cys134Arg)
c.*453T>C (n.*453T>C)
n.836T>C
c.-133-5137T>C (n.-133-5137T>C)
c.733T>C (p.Cys245Arg)
c.820T>C (p.Cys274Arg)
c.475T>C (p.Cys159Arg)
c.823T>C (p.Cys275Arg)
c.721T>C (p.Cys241Arg)
c.664T>C (p.Cys222Arg)
c.727T>C (p.Cys243Arg)
c.715T>C (p.Cys239Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144403987A>TCA348714709ZEB2c.*585T>A (n.*585T>A)
c.-42T>A (n.-42T>A)
c.736T>A (p.Cys246Ser)
n.705T>A
c.400T>A (p.Cys134Ser)
c.*453T>A (n.*453T>A)
n.836T>A
c.-133-5137T>A (n.-133-5137T>A)
c.733T>A (p.Cys245Ser)
c.820T>A (p.Cys274Ser)
c.475T>A (p.Cys159Ser)
c.823T>A (p.Cys275Ser)
c.721T>A (p.Cys241Ser)
c.664T>A (p.Cys222Ser)
c.727T>A (p.Cys243Ser)
c.715T>A (p.Cys239Ser)
2g.144403988G>ACA429218511ZEB2c.*584C>T (n.*584C>T)
c.-43C>T (n.-43C>T)
c.735C>T (p.Leu245=)
n.704C>T
c.399C>T (p.Leu133=)
c.*452C>T (n.*452C>T)
n.835C>T
c.-133-5138C>T (n.-133-5138C>T)
c.732C>T (p.Leu244=)
c.819C>T (p.Leu273=)
c.474C>T (p.Leu158=)
c.822C>T (p.Leu274=)
c.720C>T (p.Leu240=)
c.663C>T (p.Leu221=)
c.726C>T (p.Leu242=)
c.714C>T (p.Leu238=)
 COSMIC
2g.144403988G>CCA429218512ZEB2c.*584C>G (n.*584C>G)
c.-43C>G (n.-43C>G)
c.735C>G (p.Leu245=)
n.704C>G
c.399C>G (p.Leu133=)
c.*452C>G (n.*452C>G)
n.835C>G
c.-133-5138C>G (n.-133-5138C>G)
c.732C>G (p.Leu244=)
c.819C>G (p.Leu273=)
c.474C>G (p.Leu158=)
c.822C>G (p.Leu274=)
c.720C>G (p.Leu240=)
c.663C>G (p.Leu221=)
c.726C>G (p.Leu242=)
c.714C>G (p.Leu238=)
 dbSNP gnomAD v2 COSMIC
2g.144403988G=CA1294887190ZEB2c.*584C= (n.*584C=)
c.-43C= (n.-43C=)
c.735C= (p.Leu245=)
n.704C=
c.399C= (p.Leu133=)
c.*452C= (n.*452C=)
n.835C=
c.-133-5138C= (n.-133-5138C=)
c.732C= (p.Leu244=)
c.819C= (p.Leu273=)
c.474C= (p.Leu158=)
c.822C= (p.Leu274=)
c.720C= (p.Leu240=)
c.663C= (p.Leu221=)
c.726C= (p.Leu242=)
c.714C= (p.Leu238=)
2g.144403988G>TCA429218513ZEB2c.*584C>A (n.*584C>A)
c.-43C>A (n.-43C>A)
c.735C>A (p.Leu245=)
n.704C>A
c.399C>A (p.Leu133=)
c.*452C>A (n.*452C>A)
n.835C>A
c.-133-5138C>A (n.-133-5138C>A)
c.732C>A (p.Leu244=)
c.819C>A (p.Leu273=)
c.474C>A (p.Leu158=)
c.822C>A (p.Leu274=)
c.720C>A (p.Leu240=)
c.663C>A (p.Leu221=)
c.726C>A (p.Leu242=)
c.714C>A (p.Leu238=)
2g.144403989A>CCA348714711ZEB2c.*583T>G (n.*583T>G)
c.-44T>G (n.-44T>G)
c.734T>G (p.Leu245Arg)
n.703T>G
c.398T>G (p.Leu133Arg)
c.*451T>G (n.*451T>G)
n.834T>G
c.-133-5139T>G (n.-133-5139T>G)
c.731T>G (p.Leu244Arg)
c.818T>G (p.Leu273Arg)
c.473T>G (p.Leu158Arg)
c.821T>G (p.Leu274Arg)
c.719T>G (p.Leu240Arg)
c.662T>G (p.Leu221Arg)
c.725T>G (p.Leu242Arg)
c.713T>G (p.Leu238Arg)
2g.144403989A>GCA348714712ZEB2c.*583T>C (n.*583T>C)
c.-44T>C (n.-44T>C)
c.734T>C (p.Leu245Pro)
n.703T>C
c.398T>C (p.Leu133Pro)
c.*451T>C (n.*451T>C)
n.834T>C
c.-133-5139T>C (n.-133-5139T>C)
c.731T>C (p.Leu244Pro)
c.818T>C (p.Leu273Pro)
c.473T>C (p.Leu158Pro)
c.821T>C (p.Leu274Pro)
c.719T>C (p.Leu240Pro)
c.662T>C (p.Leu221Pro)
c.725T>C (p.Leu242Pro)
c.713T>C (p.Leu238Pro)
 COSMIC
2g.144403989A>TCA348714713ZEB2c.*583T>A (n.*583T>A)
c.-44T>A (n.-44T>A)
c.734T>A (p.Leu245His)
n.703T>A
c.398T>A (p.Leu133His)
c.*451T>A (n.*451T>A)
n.834T>A
c.-133-5139T>A (n.-133-5139T>A)
c.731T>A (p.Leu244His)
c.818T>A (p.Leu273His)
c.473T>A (p.Leu158His)
c.821T>A (p.Leu274His)
c.719T>A (p.Leu240His)
c.662T>A (p.Leu221His)
c.725T>A (p.Leu242His)
c.713T>A (p.Leu238His)
2g.144403990G>ACA348714714ZEB2c.*582C>T (n.*582C>T)
c.-45C>T (n.-45C>T)
c.733C>T (p.Leu245Phe)
n.702C>T
c.397C>T (p.Leu133Phe)
c.*450C>T (n.*450C>T)
n.833C>T
c.-133-5140C>T (n.-133-5140C>T)
c.730C>T (p.Leu244Phe)
c.817C>T (p.Leu273Phe)
c.472C>T (p.Leu158Phe)
c.820C>T (p.Leu274Phe)
c.718C>T (p.Leu240Phe)
c.661C>T (p.Leu221Phe)
c.724C>T (p.Leu242Phe)
c.712C>T (p.Leu238Phe)
 gnomAD v4
2g.144403990G>CCA348714715ZEB2c.*582C>G (n.*582C>G)
c.-45C>G (n.-45C>G)
c.733C>G (p.Leu245Val)
n.702C>G
c.397C>G (p.Leu133Val)
c.*450C>G (n.*450C>G)
n.833C>G
c.-133-5140C>G (n.-133-5140C>G)
c.730C>G (p.Leu244Val)
c.817C>G (p.Leu273Val)
c.472C>G (p.Leu158Val)
c.820C>G (p.Leu274Val)
c.718C>G (p.Leu240Val)
c.661C>G (p.Leu221Val)
c.724C>G (p.Leu242Val)
c.712C>G (p.Leu238Val)
2g.144403990G>TCA348714716ZEB2c.*582C>A (n.*582C>A)
c.-45C>A (n.-45C>A)
c.733C>A (p.Leu245Ile)
n.702C>A
c.397C>A (p.Leu133Ile)
c.*450C>A (n.*450C>A)
n.833C>A
c.-133-5140C>A (n.-133-5140C>A)
c.730C>A (p.Leu244Ile)
c.817C>A (p.Leu273Ile)
c.472C>A (p.Leu158Ile)
c.820C>A (p.Leu274Ile)
c.718C>A (p.Leu240Ile)
c.661C>A (p.Leu221Ile)
c.724C>A (p.Leu242Ile)
c.712C>A (p.Leu238Ile)
2g.144403991A=CA1294887191ZEB2c.*581T= (n.*581T=)
c.-46T= (n.-46T=)
c.732T= (p.Pro244=)
n.701T=
c.396T= (p.Pro132=)
c.*449T= (n.*449T=)
n.832T=
c.-133-5141T= (n.-133-5141T=)
c.729T= (p.Pro243=)
c.816T= (p.Pro272=)
c.471T= (p.Pro157=)
c.819T= (p.Pro273=)
c.717T= (p.Pro239=)
c.660T= (p.Pro220=)
c.723T= (p.Pro241=)
c.711T= (p.Pro237=)
2g.144403991A>CCA429218515ZEB2c.*581T>G (n.*581T>G)
c.-46T>G (n.-46T>G)
c.732T>G (p.Pro244=)
n.701T>G
c.396T>G (p.Pro132=)
c.*449T>G (n.*449T>G)
n.832T>G
c.-133-5141T>G (n.-133-5141T>G)
c.729T>G (p.Pro243=)
c.816T>G (p.Pro272=)
c.471T>G (p.Pro157=)
c.819T>G (p.Pro273=)
c.717T>G (p.Pro239=)
c.660T>G (p.Pro220=)
c.723T>G (p.Pro241=)
c.711T>G (p.Pro237=)
 gnomAD v4
2g.144403991A>GCA429218517ZEB2c.*581T>C (n.*581T>C)
c.-46T>C (n.-46T>C)
c.732T>C (p.Pro244=)
n.701T>C
c.396T>C (p.Pro132=)
c.*449T>C (n.*449T>C)
n.832T>C
c.-133-5141T>C (n.-133-5141T>C)
c.729T>C (p.Pro243=)
c.816T>C (p.Pro272=)
c.471T>C (p.Pro157=)
c.819T>C (p.Pro273=)
c.717T>C (p.Pro239=)
c.660T>C (p.Pro220=)
c.723T>C (p.Pro241=)
c.711T>C (p.Pro237=)
 ClinVar dbSNP
2g.144403991A>TCA429218516ZEB2c.*581T>A (n.*581T>A)
c.-46T>A (n.-46T>A)
c.732T>A (p.Pro244=)
n.701T>A
c.396T>A (p.Pro132=)
c.*449T>A (n.*449T>A)
n.832T>A
c.-133-5141T>A (n.-133-5141T>A)
c.729T>A (p.Pro243=)
c.816T>A (p.Pro272=)
c.471T>A (p.Pro157=)
c.819T>A (p.Pro273=)
c.717T>A (p.Pro239=)
c.660T>A (p.Pro220=)
c.723T>A (p.Pro241=)
c.711T>A (p.Pro237=)
2g.144403992G>ACA348714719ZEB2c.*580C>T (n.*580C>T)
c.-47C>T (n.-47C>T)
c.731C>T (p.Pro244Leu)
n.700C>T
c.395C>T (p.Pro132Leu)
c.*448C>T (n.*448C>T)
n.831C>T
c.-133-5142C>T (n.-133-5142C>T)
c.728C>T (p.Pro243Leu)
c.815C>T (p.Pro272Leu)
c.470C>T (p.Pro157Leu)
c.818C>T (p.Pro273Leu)
c.716C>T (p.Pro239Leu)
c.659C>T (p.Pro220Leu)
c.722C>T (p.Pro241Leu)
c.710C>T (p.Pro237Leu)
 gnomAD v4
2g.144403992G>CCA348714717ZEB2c.*580C>G (n.*580C>G)
c.-47C>G (n.-47C>G)
c.731C>G (p.Pro244Arg)
n.700C>G
c.395C>G (p.Pro132Arg)
c.*448C>G (n.*448C>G)
n.831C>G
c.-133-5142C>G (n.-133-5142C>G)
c.728C>G (p.Pro243Arg)
c.815C>G (p.Pro272Arg)
c.470C>G (p.Pro157Arg)
c.818C>G (p.Pro273Arg)
c.716C>G (p.Pro239Arg)
c.659C>G (p.Pro220Arg)
c.722C>G (p.Pro241Arg)
c.710C>G (p.Pro237Arg)
2g.144403992G>TCA348714718ZEB2c.*580C>A (n.*580C>A)
c.-47C>A (n.-47C>A)
c.731C>A (p.Pro244His)
n.700C>A
c.395C>A (p.Pro132His)
c.*448C>A (n.*448C>A)
n.831C>A
c.-133-5142C>A (n.-133-5142C>A)
c.728C>A (p.Pro243His)
c.815C>A (p.Pro272His)
c.470C>A (p.Pro157His)
c.818C>A (p.Pro273His)
c.716C>A (p.Pro239His)
c.659C>A (p.Pro220His)
c.722C>A (p.Pro241His)
c.710C>A (p.Pro237His)
2g.144403993G>ACA297589ZEB2c.*579C>T (n.*579C>T)
c.-48C>T (n.-48C>T)
c.730C>T (p.Pro244Ser)
n.699C>T
c.394C>T (p.Pro132Ser)
c.*447C>T (n.*447C>T)
n.830C>T
c.-133-5143C>T (n.-133-5143C>T)
c.727C>T (p.Pro243Ser)
c.814C>T (p.Pro272Ser)
c.469C>T (p.Pro157Ser)
c.817C>T (p.Pro273Ser)
c.715C>T (p.Pro239Ser)
c.658C>T (p.Pro220Ser)
c.721C>T (p.Pro241Ser)
c.709C>T (p.Pro237Ser)
 ClinVar dbSNP gnomAD v4
2g.144403993G>CCA348714720ZEB2c.*579C>G (n.*579C>G)
c.-48C>G (n.-48C>G)
c.730C>G (p.Pro244Ala)
n.699C>G
c.394C>G (p.Pro132Ala)
c.*447C>G (n.*447C>G)
n.830C>G
c.-133-5143C>G (n.-133-5143C>G)
c.727C>G (p.Pro243Ala)
c.814C>G (p.Pro272Ala)
c.469C>G (p.Pro157Ala)
c.817C>G (p.Pro273Ala)
c.715C>G (p.Pro239Ala)
c.658C>G (p.Pro220Ala)
c.721C>G (p.Pro241Ala)
c.709C>G (p.Pro237Ala)
2g.144403993G=CA1294887192ZEB2c.*579C= (n.*579C=)
c.-48C= (n.-48C=)
c.730C= (p.Pro244=)
n.699C=
c.394C= (p.Pro132=)
c.*447C= (n.*447C=)
n.830C=
c.-133-5143C= (n.-133-5143C=)
c.727C= (p.Pro243=)
c.814C= (p.Pro272=)
c.469C= (p.Pro157=)
c.817C= (p.Pro273=)
c.715C= (p.Pro239=)
c.658C= (p.Pro220=)
c.721C= (p.Pro241=)
c.709C= (p.Pro237=)
2g.144403993G>TCA348714721ZEB2c.*579C>A (n.*579C>A)
c.-48C>A (n.-48C>A)
c.730C>A (p.Pro244Thr)
n.699C>A
c.394C>A (p.Pro132Thr)
c.*447C>A (n.*447C>A)
n.830C>A
c.-133-5143C>A (n.-133-5143C>A)
c.727C>A (p.Pro243Thr)
c.814C>A (p.Pro272Thr)
c.469C>A (p.Pro157Thr)
c.817C>A (p.Pro273Thr)
c.715C>A (p.Pro239Thr)
c.658C>A (p.Pro220Thr)
c.721C>A (p.Pro241Thr)
c.709C>A (p.Pro237Thr)
2g.144403994G>ACA429218519ZEB2c.*578C>T (n.*578C>T)
c.-49C>T (n.-49C>T)
c.729C>T (p.Cys243=)
n.698C>T
c.393C>T (p.Cys131=)
c.*446C>T (n.*446C>T)
n.829C>T
c.-133-5144C>T (n.-133-5144C>T)
c.726C>T (p.Cys242=)
c.813C>T (p.Cys271=)
c.468C>T (p.Cys156=)
c.816C>T (p.Cys272=)
c.714C>T (p.Cys238=)
c.657C>T (p.Cys219=)
c.720C>T (p.Cys240=)
c.708C>T (p.Cys236=)
 dbSNP gnomAD v2 gnomAD v4
2g.144403994G>CCA348714722ZEB2c.*578C>G (n.*578C>G)
c.-49C>G (n.-49C>G)
c.729C>G (p.Cys243Trp)
n.698C>G
c.393C>G (p.Cys131Trp)
c.*446C>G (n.*446C>G)
n.829C>G
c.-133-5144C>G (n.-133-5144C>G)
c.726C>G (p.Cys242Trp)
c.813C>G (p.Cys271Trp)
c.468C>G (p.Cys156Trp)
c.816C>G (p.Cys272Trp)
c.714C>G (p.Cys238Trp)
c.657C>G (p.Cys219Trp)
c.720C>G (p.Cys240Trp)
c.708C>G (p.Cys236Trp)
2g.144403994G=CA1294887193ZEB2c.*578C= (n.*578C=)
c.-49C= (n.-49C=)
c.729C= (p.Cys243=)
n.698C=
c.393C= (p.Cys131=)
c.*446C= (n.*446C=)
n.829C=
c.-133-5144C= (n.-133-5144C=)
c.726C= (p.Cys242=)
c.813C= (p.Cys271=)
c.468C= (p.Cys156=)
c.816C= (p.Cys272=)
c.714C= (p.Cys238=)
c.657C= (p.Cys219=)
c.720C= (p.Cys240=)
c.708C= (p.Cys236=)
2g.144403994G>TCA348714723ZEB2c.*578C>A (n.*578C>A)
c.-49C>A (n.-49C>A)
c.729C>A (p.Cys243Ter)
n.698C>A
c.393C>A (p.Cys131Ter)
c.*446C>A (n.*446C>A)
n.829C>A
c.-133-5144C>A (n.-133-5144C>A)
c.726C>A (p.Cys242Ter)
c.813C>A (p.Cys271Ter)
c.468C>A (p.Cys156Ter)
c.816C>A (p.Cys272Ter)
c.714C>A (p.Cys238Ter)
c.657C>A (p.Cys219Ter)
c.720C>A (p.Cys240Ter)
c.708C>A (p.Cys236Ter)
2g.144403995C>ACA348714724ZEB2c.*577G>T (n.*577G>T)
c.-50G>T (n.-50G>T)
c.728G>T (p.Cys243Phe)
n.697G>T
c.392G>T (p.Cys131Phe)
c.*445G>T (n.*445G>T)
n.828G>T
c.-133-5145G>T (n.-133-5145G>T)
c.725G>T (p.Cys242Phe)
c.812G>T (p.Cys271Phe)
c.467G>T (p.Cys156Phe)
c.815G>T (p.Cys272Phe)
c.713G>T (p.Cys238Phe)
n.674G>T
c.656G>T (p.Cys219Phe)
c.719G>T (p.Cys240Phe)
c.707G>T (p.Cys236Phe)
 COSMIC
2g.144403995C>GCA348714726ZEB2c.*577G>C (n.*577G>C)
c.-50G>C (n.-50G>C)
c.728G>C (p.Cys243Ser)
n.697G>C
c.392G>C (p.Cys131Ser)
c.*445G>C (n.*445G>C)
n.828G>C
c.-133-5145G>C (n.-133-5145G>C)
c.725G>C (p.Cys242Ser)
c.812G>C (p.Cys271Ser)
c.467G>C (p.Cys156Ser)
c.815G>C (p.Cys272Ser)
c.713G>C (p.Cys238Ser)
n.674G>C
c.656G>C (p.Cys219Ser)
c.719G>C (p.Cys240Ser)
c.707G>C (p.Cys236Ser)
2g.144403995C>TCA348714725ZEB2c.*577G>A (n.*577G>A)
c.-50G>A (n.-50G>A)
c.728G>A (p.Cys243Tyr)
n.697G>A
c.392G>A (p.Cys131Tyr)
c.*445G>A (n.*445G>A)
n.828G>A
c.-133-5145G>A (n.-133-5145G>A)
c.725G>A (p.Cys242Tyr)
c.812G>A (p.Cys271Tyr)
c.467G>A (p.Cys156Tyr)
c.815G>A (p.Cys272Tyr)
c.713G>A (p.Cys238Tyr)
n.674G>A
c.656G>A (p.Cys219Tyr)
c.719G>A (p.Cys240Tyr)
c.707G>A (p.Cys236Tyr)
2g.144403996A>CCA348714727ZEB2c.*576T>G (n.*576T>G)
c.-51T>G (n.-51T>G)
c.727T>G (p.Cys243Gly)
n.696T>G
c.391T>G (p.Cys131Gly)
c.*444T>G (n.*444T>G)
n.827T>G
c.-133-5146T>G (n.-133-5146T>G)
c.724T>G (p.Cys242Gly)
c.811T>G (p.Cys271Gly)
c.466T>G (p.Cys156Gly)
c.814T>G (p.Cys272Gly)
c.712T>G (p.Cys238Gly)
n.673T>G
c.655T>G (p.Cys219Gly)
c.718T>G (p.Cys240Gly)
c.706T>G (p.Cys236Gly)
2g.144403996A>GCA348714728ZEB2c.*576T>C (n.*576T>C)
c.-51T>C (n.-51T>C)
c.727T>C (p.Cys243Arg)
n.696T>C
c.391T>C (p.Cys131Arg)
c.*444T>C (n.*444T>C)
n.827T>C
c.-133-5146T>C (n.-133-5146T>C)
c.724T>C (p.Cys242Arg)
c.811T>C (p.Cys271Arg)
c.466T>C (p.Cys156Arg)
c.814T>C (p.Cys272Arg)
c.712T>C (p.Cys238Arg)
n.673T>C
c.655T>C (p.Cys219Arg)
c.718T>C (p.Cys240Arg)
c.706T>C (p.Cys236Arg)
2g.144403996A>TCA348714729ZEB2c.*576T>A (n.*576T>A)
c.-51T>A (n.-51T>A)
c.727T>A (p.Cys243Ser)
n.696T>A
c.391T>A (p.Cys131Ser)
c.*444T>A (n.*444T>A)
n.827T>A
c.-133-5146T>A (n.-133-5146T>A)
c.724T>A (p.Cys242Ser)
c.811T>A (p.Cys271Ser)
c.466T>A (p.Cys156Ser)
c.814T>A (p.Cys272Ser)
c.712T>A (p.Cys238Ser)
n.673T>A
c.655T>A (p.Cys219Ser)
c.718T>A (p.Cys240Ser)
c.706T>A (p.Cys236Ser)
2g.144403997G>ACA57561777ZEB2c.*575C>T (n.*575C>T)
c.-52C>T (n.-52C>T)
c.726C>T (p.Ser242=)
n.695C>T
c.390C>T (p.Ser130=)
c.*443C>T (n.*443C>T)
n.826C>T
c.-133-5147C>T (n.-133-5147C>T)
c.723C>T (p.Ser241=)
c.810C>T (p.Ser270=)
c.465C>T (p.Ser155=)
c.813C>T (p.Ser271=)
c.711C>T (p.Ser237=)
n.672C>T
c.654C>T (p.Ser218=)
c.717C>T (p.Ser239=)
c.705C>T (p.Ser235=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.144403997G>CCA429218522ZEB2c.*575C>G (n.*575C>G)
c.-52C>G (n.-52C>G)
c.726C>G (p.Ser242=)
n.695C>G
c.390C>G (p.Ser130=)
c.*443C>G (n.*443C>G)
n.826C>G
c.-133-5147C>G (n.-133-5147C>G)
c.723C>G (p.Ser241=)
c.810C>G (p.Ser270=)
c.465C>G (p.Ser155=)
c.813C>G (p.Ser271=)
c.711C>G (p.Ser237=)
n.672C>G
c.654C>G (p.Ser218=)
c.717C>G (p.Ser239=)
c.705C>G (p.Ser235=)
2g.144403997G=CA1294887194ZEB2c.*575C= (n.*575C=)
c.-52C= (n.-52C=)
c.726C= (p.Ser242=)
n.695C=
c.390C= (p.Ser130=)
c.*443C= (n.*443C=)
n.826C=
c.-133-5147C= (n.-133-5147C=)
c.723C= (p.Ser241=)
c.810C= (p.Ser270=)
c.465C= (p.Ser155=)
c.813C= (p.Ser271=)
c.711C= (p.Ser237=)
n.672C=
c.654C= (p.Ser218=)
c.717C= (p.Ser239=)
c.705C= (p.Ser235=)
2g.144403997G>TCA429218520ZEB2c.*575C>A (n.*575C>A)
c.-52C>A (n.-52C>A)
c.726C>A (p.Ser242=)
n.695C>A
c.390C>A (p.Ser130=)
c.*443C>A (n.*443C>A)
n.826C>A
c.-133-5147C>A (n.-133-5147C>A)
c.723C>A (p.Ser241=)
c.810C>A (p.Ser270=)
c.465C>A (p.Ser155=)
c.813C>A (p.Ser271=)
c.711C>A (p.Ser237=)
n.672C>A
c.654C>A (p.Ser218=)
c.717C>A (p.Ser239=)
c.705C>A (p.Ser235=)
 ClinVar
2g.144403998G>ACA348714730ZEB2c.*574C>T (n.*574C>T)
c.-53C>T (n.-53C>T)
c.725C>T (p.Ser242Phe)
n.694C>T
c.389C>T (p.Ser130Phe)
c.*442C>T (n.*442C>T)
n.825C>T
c.-133-5148C>T (n.-133-5148C>T)
c.722C>T (p.Ser241Phe)
c.809C>T (p.Ser270Phe)
c.464C>T (p.Ser155Phe)
c.812C>T (p.Ser271Phe)
c.710C>T (p.Ser237Phe)
n.671C>T
c.653C>T (p.Ser218Phe)
c.716C>T (p.Ser239Phe)
c.704C>T (p.Ser235Phe)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.144403998G>CCA348714731ZEB2c.*574C>G (n.*574C>G)
c.-53C>G (n.-53C>G)
c.725C>G (p.Ser242Cys)
n.694C>G
c.389C>G (p.Ser130Cys)
c.*442C>G (n.*442C>G)
n.825C>G
c.-133-5148C>G (n.-133-5148C>G)
c.722C>G (p.Ser241Cys)
c.809C>G (p.Ser270Cys)
c.464C>G (p.Ser155Cys)
c.812C>G (p.Ser271Cys)
c.710C>G (p.Ser237Cys)
n.671C>G
c.653C>G (p.Ser218Cys)
c.716C>G (p.Ser239Cys)
c.704C>G (p.Ser235Cys)
2g.144403998G=CA1294887195ZEB2c.*574C= (n.*574C=)
c.-53C= (n.-53C=)
c.725C= (p.Ser242=)
n.694C=
c.389C= (p.Ser130=)
c.*442C= (n.*442C=)
n.825C=
c.-133-5148C= (n.-133-5148C=)
c.722C= (p.Ser241=)
c.809C= (p.Ser270=)
c.464C= (p.Ser155=)
c.812C= (p.Ser271=)
c.710C= (p.Ser237=)
n.671C=
c.653C= (p.Ser218=)
c.716C= (p.Ser239=)
c.704C= (p.Ser235=)
2g.144403998G>TCA348714732ZEB2c.*574C>A (n.*574C>A)
c.-53C>A (n.-53C>A)
c.725C>A (p.Ser242Tyr)
n.694C>A
c.389C>A (p.Ser130Tyr)
c.*442C>A (n.*442C>A)
n.825C>A
c.-133-5148C>A (n.-133-5148C>A)
c.722C>A (p.Ser241Tyr)
c.809C>A (p.Ser270Tyr)
c.464C>A (p.Ser155Tyr)
c.812C>A (p.Ser271Tyr)
c.710C>A (p.Ser237Tyr)
n.671C>A
c.653C>A (p.Ser218Tyr)
c.716C>A (p.Ser239Tyr)
c.704C>A (p.Ser235Tyr)
2g.144403999A=CA1294887196ZEB2c.*573T= (n.*573T=)
c.-54T= (n.-54T=)
c.724T= (p.Ser242=)
n.693T=
c.388T= (p.Ser130=)
c.*441T= (n.*441T=)
n.824T=
c.-133-5149T= (n.-133-5149T=)
c.721T= (p.Ser241=)
c.808T= (p.Ser270=)
c.463T= (p.Ser155=)
c.811T= (p.Ser271=)
c.709T= (p.Ser237=)
n.670T=
c.652T= (p.Ser218=)
c.715T= (p.Ser239=)
c.703T= (p.Ser235=)
2g.144403999A>CCA348714733ZEB2c.*573T>G (n.*573T>G)
c.-54T>G (n.-54T>G)
c.724T>G (p.Ser242Ala)
n.693T>G
c.388T>G (p.Ser130Ala)
c.*441T>G (n.*441T>G)
n.824T>G
c.-133-5149T>G (n.-133-5149T>G)
c.721T>G (p.Ser241Ala)
c.808T>G (p.Ser270Ala)
c.463T>G (p.Ser155Ala)
c.811T>G (p.Ser271Ala)
c.709T>G (p.Ser237Ala)
n.670T>G
c.652T>G (p.Ser218Ala)
c.715T>G (p.Ser239Ala)
c.703T>G (p.Ser235Ala)
2g.144403999A>GCA348714734ZEB2c.*573T>C (n.*573T>C)
c.-54T>C (n.-54T>C)
c.724T>C (p.Ser242Pro)
n.693T>C
c.388T>C (p.Ser130Pro)
c.*441T>C (n.*441T>C)
n.824T>C
c.-133-5149T>C (n.-133-5149T>C)
c.721T>C (p.Ser241Pro)
c.808T>C (p.Ser270Pro)
c.463T>C (p.Ser155Pro)
c.811T>C (p.Ser271Pro)
c.709T>C (p.Ser237Pro)
n.670T>C
c.652T>C (p.Ser218Pro)
c.715T>C (p.Ser239Pro)
c.703T>C (p.Ser235Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.144403999A>TCA348714735ZEB2c.*573T>A (n.*573T>A)
c.-54T>A (n.-54T>A)
c.724T>A (p.Ser242Thr)
n.693T>A
c.388T>A (p.Ser130Thr)
c.*441T>A (n.*441T>A)
n.824T>A
c.-133-5149T>A (n.-133-5149T>A)
c.721T>A (p.Ser241Thr)
c.808T>A (p.Ser270Thr)
c.463T>A (p.Ser155Thr)
c.811T>A (p.Ser271Thr)
c.709T>A (p.Ser237Thr)
n.670T>A
c.652T>A (p.Ser218Thr)
c.715T>A (p.Ser239Thr)
c.703T>A (p.Ser235Thr)
2g.144404000A>CCA348714736ZEB2c.*572T>G (n.*572T>G)
c.-55T>G (n.-55T>G)
c.723T>G (p.Phe241Leu)
n.692T>G
c.387T>G (p.Phe129Leu)
c.*440T>G (n.*440T>G)
n.823T>G
c.-133-5150T>G (n.-133-5150T>G)
c.720T>G (p.Phe240Leu)
c.807T>G (p.Phe269Leu)
c.462T>G (p.Phe154Leu)
c.810T>G (p.Phe270Leu)
c.708T>G (p.Phe236Leu)
n.669T>G
c.651T>G (p.Phe217Leu)
c.714T>G (p.Phe238Leu)
c.702T>G (p.Phe234Leu)
2g.144404000A>GCA429218523ZEB2c.*572T>C (n.*572T>C)
c.-55T>C (n.-55T>C)
c.723T>C (p.Phe241=)
n.692T>C
c.387T>C (p.Phe129=)
c.*440T>C (n.*440T>C)
n.823T>C
c.-133-5150T>C (n.-133-5150T>C)
c.720T>C (p.Phe240=)
c.807T>C (p.Phe269=)
c.462T>C (p.Phe154=)
c.810T>C (p.Phe270=)
c.708T>C (p.Phe236=)
n.669T>C
c.651T>C (p.Phe217=)
c.714T>C (p.Phe238=)
c.702T>C (p.Phe234=)
 ClinVar
2g.144404000A>TCA348714737ZEB2c.*572T>A (n.*572T>A)
c.-55T>A (n.-55T>A)
c.723T>A (p.Phe241Leu)
n.692T>A
c.387T>A (p.Phe129Leu)
c.*440T>A (n.*440T>A)
n.823T>A
c.-133-5150T>A (n.-133-5150T>A)
c.720T>A (p.Phe240Leu)
c.807T>A (p.Phe269Leu)
c.462T>A (p.Phe154Leu)
c.810T>A (p.Phe270Leu)
c.708T>A (p.Phe236Leu)
n.669T>A
c.651T>A (p.Phe217Leu)
c.714T>A (p.Phe238Leu)
c.702T>A (p.Phe234Leu)
2g.144404001A>CCA348714740ZEB2c.*571T>G (n.*571T>G)
c.-56T>G (n.-56T>G)
c.722T>G (p.Phe241Cys)
n.691T>G
c.386T>G (p.Phe129Cys)
c.*439T>G (n.*439T>G)
n.822T>G
c.-133-5151T>G (n.-133-5151T>G)
c.719T>G (p.Phe240Cys)
c.806T>G (p.Phe269Cys)
c.461T>G (p.Phe154Cys)
c.809T>G (p.Phe270Cys)
c.707T>G (p.Phe236Cys)
n.668T>G
c.650T>G (p.Phe217Cys)
c.713T>G (p.Phe238Cys)
c.701T>G (p.Phe234Cys)
2g.144404001A>GCA348714739ZEB2c.*571T>C (n.*571T>C)
c.-56T>C (n.-56T>C)
c.722T>C (p.Phe241Ser)
n.691T>C
c.386T>C (p.Phe129Ser)
c.*439T>C (n.*439T>C)
n.822T>C
c.-133-5151T>C (n.-133-5151T>C)
c.719T>C (p.Phe240Ser)
c.806T>C (p.Phe269Ser)
c.461T>C (p.Phe154Ser)
c.809T>C (p.Phe270Ser)
c.707T>C (p.Phe236Ser)
n.668T>C
c.650T>C (p.Phe217Ser)
c.713T>C (p.Phe238Ser)
c.701T>C (p.Phe234Ser)
2g.144404001A>TCA348714738ZEB2c.*571T>A (n.*571T>A)
c.-56T>A (n.-56T>A)
c.722T>A (p.Phe241Tyr)
n.691T>A
c.386T>A (p.Phe129Tyr)
c.*439T>A (n.*439T>A)
n.822T>A
c.-133-5151T>A (n.-133-5151T>A)
c.719T>A (p.Phe240Tyr)
c.806T>A (p.Phe269Tyr)
c.461T>A (p.Phe154Tyr)
c.809T>A (p.Phe270Tyr)
c.707T>A (p.Phe236Tyr)
n.668T>A
c.650T>A (p.Phe217Tyr)
c.713T>A (p.Phe238Tyr)
c.701T>A (p.Phe234Tyr)
2g.144404002A>CCA348714741ZEB2c.*570T>G (n.*570T>G)
c.-57T>G (n.-57T>G)
c.721T>G (p.Phe241Val)
n.690T>G
c.385T>G (p.Phe129Val)
c.*438T>G (n.*438T>G)
n.821T>G
c.-133-5152T>G (n.-133-5152T>G)
c.718T>G (p.Phe240Val)
c.805T>G (p.Phe269Val)
c.460T>G (p.Phe154Val)
c.808T>G (p.Phe270Val)
c.706T>G (p.Phe236Val)
n.667T>G
c.649T>G (p.Phe217Val)
c.712T>G (p.Phe238Val)
c.700T>G (p.Phe234Val)
2g.144404002A>GCA348714742ZEB2c.*570T>C (n.*570T>C)
c.-57T>C (n.-57T>C)
c.721T>C (p.Phe241Leu)
n.690T>C
c.385T>C (p.Phe129Leu)
c.*438T>C (n.*438T>C)
n.821T>C
c.-133-5152T>C (n.-133-5152T>C)
c.718T>C (p.Phe240Leu)
c.805T>C (p.Phe269Leu)
c.460T>C (p.Phe154Leu)
c.808T>C (p.Phe270Leu)
c.706T>C (p.Phe236Leu)
n.667T>C
c.649T>C (p.Phe217Leu)
c.712T>C (p.Phe238Leu)
c.700T>C (p.Phe234Leu)
2g.144404002A>TCA348714743ZEB2c.*570T>A (n.*570T>A)
c.-57T>A (n.-57T>A)
c.721T>A (p.Phe241Ile)
n.690T>A
c.385T>A (p.Phe129Ile)
c.*438T>A (n.*438T>A)
n.821T>A
c.-133-5152T>A (n.-133-5152T>A)
c.718T>A (p.Phe240Ile)
c.805T>A (p.Phe269Ile)
c.460T>A (p.Phe154Ile)
c.808T>A (p.Phe270Ile)
c.706T>A (p.Phe236Ile)
n.667T>A
c.649T>A (p.Phe217Ile)
c.712T>A (p.Phe238Ile)
c.700T>A (p.Phe234Ile)
2g.144404003_144404034delCA2586965034ZEB2c.*539_*570del (n.*539_*570del)
c.-88_-57del (n.-88_-57del)
c.690_721del (p.Lys231PhefsTer6)
n.659_690del
c.354_385del (p.Lys119PhefsTer6)
c.*407_*438del (n.*407_*438del)
n.790_821del
c.-133-5183_-133-5152del (n.-133-5183_-133-5152del)
c.687_718del (p.Lys230PhefsTer6)
c.774_805del (p.Lys259PhefsTer6)
c.429_460del (p.Lys144PhefsTer6)
c.777_808del (p.Lys260PhefsTer6)
c.675_706del (p.Lys226PhefsTer6)
n.636_667del
c.618_649del (p.Lys207PhefsTer6)
c.681_712del (p.Lys228PhefsTer6)
c.669_700del (p.Lys224PhefsTer6)
2g.144404003G>ACA57561787ZEB2c.*569C>T (n.*569C>T)
c.-58C>T (n.-58C>T)
c.720C>T (p.Asn240=)
n.689C>T
c.384C>T (p.Asn128=)
c.*437C>T (n.*437C>T)
n.820C>T
c.-133-5153C>T (n.-133-5153C>T)
c.717C>T (p.Asn239=)
c.804C>T (p.Asn268=)
c.459C>T (p.Asn153=)
c.807C>T (p.Asn269=)
c.705C>T (p.Asn235=)
n.666C>T
c.648C>T (p.Asn216=)
c.711C>T (p.Asn237=)
c.699C>T (p.Asn233=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.144404003G>CCA348714744ZEB2c.*569C>G (n.*569C>G)
c.-58C>G (n.-58C>G)
c.720C>G (p.Asn240Lys)
n.689C>G
c.384C>G (p.Asn128Lys)
c.*437C>G (n.*437C>G)
n.820C>G
c.-133-5153C>G (n.-133-5153C>G)
c.717C>G (p.Asn239Lys)
c.804C>G (p.Asn268Lys)
c.459C>G (p.Asn153Lys)
c.807C>G (p.Asn269Lys)
c.705C>G (p.Asn235Lys)
n.666C>G
c.648C>G (p.Asn216Lys)
c.711C>G (p.Asn237Lys)
c.699C>G (p.Asn233Lys)
2g.144404003G=CA1294887197ZEB2c.*569C= (n.*569C=)
c.-58C= (n.-58C=)
c.720C= (p.Asn240=)
n.689C=
c.384C= (p.Asn128=)
c.*437C= (n.*437C=)
n.820C=
c.-133-5153C= (n.-133-5153C=)
c.717C= (p.Asn239=)
c.804C= (p.Asn268=)
c.459C= (p.Asn153=)
c.807C= (p.Asn269=)
c.705C= (p.Asn235=)
n.666C=
c.648C= (p.Asn216=)
c.711C= (p.Asn237=)
c.699C= (p.Asn233=)
2g.144404003G>TCA348714745ZEB2c.*569C>A (n.*569C>A)
c.-58C>A (n.-58C>A)
c.720C>A (p.Asn240Lys)
n.689C>A
c.384C>A (p.Asn128Lys)
c.*437C>A (n.*437C>A)
n.820C>A
c.-133-5153C>A (n.-133-5153C>A)
c.717C>A (p.Asn239Lys)
c.804C>A (p.Asn268Lys)
c.459C>A (p.Asn153Lys)
c.807C>A (p.Asn269Lys)
c.705C>A (p.Asn235Lys)
n.666C>A
c.648C>A (p.Asn216Lys)
c.711C>A (p.Asn237Lys)
c.699C>A (p.Asn233Lys)
2g.144404004T>ACA348714746ZEB2c.*568A>T (n.*568A>T)
c.-59A>T (n.-59A>T)
c.719A>T (p.Asn240Ile)
n.688A>T
c.383A>T (p.Asn128Ile)
c.*436A>T (n.*436A>T)
n.819A>T
c.-133-5154A>T (n.-133-5154A>T)
c.716A>T (p.Asn239Ile)
c.803A>T (p.Asn268Ile)
c.458A>T (p.Asn153Ile)
c.806A>T (p.Asn269Ile)
c.704A>T (p.Asn235Ile)
n.665A>T
c.647A>T (p.Asn216Ile)
c.710A>T (p.Asn237Ile)
c.698A>T (p.Asn233Ile)
2g.144404004T>CCA348714747ZEB2c.*568A>G (n.*568A>G)
c.-59A>G (n.-59A>G)
c.719A>G (p.Asn240Ser)
n.688A>G
c.383A>G (p.Asn128Ser)
c.*436A>G (n.*436A>G)
n.819A>G
c.-133-5154A>G (n.-133-5154A>G)
c.716A>G (p.Asn239Ser)
c.803A>G (p.Asn268Ser)
c.458A>G (p.Asn153Ser)
c.806A>G (p.Asn269Ser)
c.704A>G (p.Asn235Ser)
n.665A>G
c.647A>G (p.Asn216Ser)
c.710A>G (p.Asn237Ser)
c.698A>G (p.Asn233Ser)
 COSMIC
2g.144404004T>GCA348714748ZEB2c.*568A>C (n.*568A>C)
c.-59A>C (n.-59A>C)
c.719A>C (p.Asn240Thr)
n.688A>C
c.383A>C (p.Asn128Thr)
c.*436A>C (n.*436A>C)
n.819A>C
c.-133-5154A>C (n.-133-5154A>C)
c.716A>C (p.Asn239Thr)
c.803A>C (p.Asn268Thr)
c.458A>C (p.Asn153Thr)
c.806A>C (p.Asn269Thr)
c.704A>C (p.Asn235Thr)
n.665A>C
c.647A>C (p.Asn216Thr)
c.710A>C (p.Asn237Thr)
c.698A>C (p.Asn233Thr)
2g.144404005T>ACA348714749ZEB2c.*567A>T (n.*567A>T)
c.-60A>T (n.-60A>T)
c.718A>T (p.Asn240Tyr)
n.687A>T
c.382A>T (p.Asn128Tyr)
c.*435A>T (n.*435A>T)
n.818A>T
c.-133-5155A>T (n.-133-5155A>T)
c.715A>T (p.Asn239Tyr)
c.802A>T (p.Asn268Tyr)
c.457A>T (p.Asn153Tyr)
c.805A>T (p.Asn269Tyr)
c.703A>T (p.Asn235Tyr)
n.664A>T
c.646A>T (p.Asn216Tyr)
c.709A>T (p.Asn237Tyr)
c.697A>T (p.Asn233Tyr)
2g.144404005T>CCA348714750ZEB2c.*567A>G (n.*567A>G)
c.-60A>G (n.-60A>G)
c.718A>G (p.Asn240Asp)
n.687A>G
c.382A>G (p.Asn128Asp)
c.*435A>G (n.*435A>G)
n.818A>G
c.-133-5155A>G (n.-133-5155A>G)
c.715A>G (p.Asn239Asp)
c.802A>G (p.Asn268Asp)
c.457A>G (p.Asn153Asp)
c.805A>G (p.Asn269Asp)
c.703A>G (p.Asn235Asp)
n.664A>G
c.646A>G (p.Asn216Asp)
c.709A>G (p.Asn237Asp)
c.697A>G (p.Asn233Asp)
2g.144404005T>GCA348714751ZEB2c.*567A>C (n.*567A>C)
c.-60A>C (n.-60A>C)
c.718A>C (p.Asn240His)
n.687A>C
c.382A>C (p.Asn128His)
c.*435A>C (n.*435A>C)
n.818A>C
c.-133-5155A>C (n.-133-5155A>C)
c.715A>C (p.Asn239His)
c.802A>C (p.Asn268His)
c.457A>C (p.Asn153His)
c.805A>C (p.Asn269His)
c.703A>C (p.Asn235His)
n.664A>C
c.646A>C (p.Asn216His)
c.709A>C (p.Asn237His)
c.697A>C (p.Asn233His)
 gnomAD v4
2g.144404006C>ACA348714752ZEB2c.*566G>T (n.*566G>T)
c.-61G>T (n.-61G>T)
c.717G>T (p.Glu239Asp)
n.686G>T
c.381G>T (p.Glu127Asp)
c.*434G>T (n.*434G>T)
n.817G>T
c.-133-5156G>T (n.-133-5156G>T)
c.714G>T (p.Glu238Asp)
c.801G>T (p.Glu267Asp)
c.456G>T (p.Glu152Asp)
c.804G>T (p.Glu268Asp)
c.702G>T (p.Glu234Asp)
n.663G>T
c.645G>T (p.Glu215Asp)
c.708G>T (p.Glu236Asp)
c.696G>T (p.Glu232Asp)
 gnomAD v4 COSMIC
2g.144404006C>GCA348714753ZEB2c.*566G>C (n.*566G>C)
c.-61G>C (n.-61G>C)
c.717G>C (p.Glu239Asp)
n.686G>C
c.381G>C (p.Glu127Asp)
c.*434G>C (n.*434G>C)
n.817G>C
c.-133-5156G>C (n.-133-5156G>C)
c.714G>C (p.Glu238Asp)
c.801G>C (p.Glu267Asp)
c.456G>C (p.Glu152Asp)
c.804G>C (p.Glu268Asp)
c.702G>C (p.Glu234Asp)
n.663G>C
c.645G>C (p.Glu215Asp)
c.708G>C (p.Glu236Asp)
c.696G>C (p.Glu232Asp)
 COSMIC
2g.144404006C>TCA429218527ZEB2c.*566G>A (n.*566G>A)
c.-61G>A (n.-61G>A)
c.717G>A (p.Glu239=)
n.686G>A
c.381G>A (p.Glu127=)
c.*434G>A (n.*434G>A)
n.817G>A
c.-133-5156G>A (n.-133-5156G>A)
c.714G>A (p.Glu238=)
c.801G>A (p.Glu267=)
c.456G>A (p.Glu152=)
c.804G>A (p.Glu268=)
c.702G>A (p.Glu234=)
n.663G>A
c.645G>A (p.Glu215=)
c.708G>A (p.Glu236=)
c.696G>A (p.Glu232=)
2g.144404007delCA2586965035ZEB2c.*565del (n.*565del)
c.-62del (n.-62del)
c.716del (p.Glu239GlyfsTer23)
n.685del
c.380del (p.Glu127GlyfsTer23)
c.*433del (n.*433del)
n.816del
c.-133-5157del (n.-133-5157del)
c.713del (p.Glu238GlyfsTer23)
c.800del (p.Glu267GlyfsTer23)
c.455del (p.Glu152GlyfsTer23)
c.803del (p.Glu268GlyfsTer23)
c.701del (p.Glu234GlyfsTer23)
n.662del
c.644del (p.Glu215GlyfsTer23)
c.707del (p.Glu236GlyfsTer23)
c.695del (p.Glu232GlyfsTer23)
2g.144404007T>ACA348714756ZEB2c.*565A>T (n.*565A>T)
c.-62A>T (n.-62A>T)
c.716A>T (p.Glu239Val)
n.685A>T
c.380A>T (p.Glu127Val)
c.*433A>T (n.*433A>T)
n.816A>T
c.-133-5157A>T (n.-133-5157A>T)
c.713A>T (p.Glu238Val)
c.800A>T (p.Glu267Val)
c.455A>T (p.Glu152Val)
c.803A>T (p.Glu268Val)
c.701A>T (p.Glu234Val)
n.662A>T
c.644A>T (p.Glu215Val)
c.707A>T (p.Glu236Val)
c.695A>T (p.Glu232Val)
2g.144404007T>CCA348714755ZEB2c.*565A>G (n.*565A>G)
c.-62A>G (n.-62A>G)
c.716A>G (p.Glu239Gly)
n.685A>G
c.380A>G (p.Glu127Gly)
c.*433A>G (n.*433A>G)
n.816A>G
c.-133-5157A>G (n.-133-5157A>G)
c.713A>G (p.Glu238Gly)
c.800A>G (p.Glu267Gly)
c.455A>G (p.Glu152Gly)
c.803A>G (p.Glu268Gly)
c.701A>G (p.Glu234Gly)
n.662A>G
c.644A>G (p.Glu215Gly)
c.707A>G (p.Glu236Gly)
c.695A>G (p.Glu232Gly)
2g.144404007T>GCA348714754ZEB2c.*565A>C (n.*565A>C)
c.-62A>C (n.-62A>C)
c.716A>C (p.Glu239Ala)
n.685A>C
c.380A>C (p.Glu127Ala)
c.*433A>C (n.*433A>C)
n.816A>C
c.-133-5157A>C (n.-133-5157A>C)
c.713A>C (p.Glu238Ala)
c.800A>C (p.Glu267Ala)
c.455A>C (p.Glu152Ala)
c.803A>C (p.Glu268Ala)
c.701A>C (p.Glu234Ala)
n.662A>C
c.644A>C (p.Glu215Ala)
c.707A>C (p.Glu236Ala)
c.695A>C (p.Glu232Ala)
 gnomAD v4
2g.144404008delCA2586965036ZEB2c.*564del (n.*564del)
c.-63del (n.-63del)
c.715del (p.Glu239ArgfsTer23)
n.684del
c.379del (p.Glu127ArgfsTer23)
c.*432del (n.*432del)
n.815del
c.-133-5158del (n.-133-5158del)
c.712del (p.Glu238ArgfsTer23)
c.799del (p.Glu267ArgfsTer23)
c.454del (p.Glu152ArgfsTer23)
c.802del (p.Glu268ArgfsTer23)
c.700del (p.Glu234ArgfsTer23)
n.661del
c.643del (p.Glu215ArgfsTer23)
c.706del (p.Glu236ArgfsTer23)
c.694del (p.Glu232ArgfsTer23)
 ClinVar
2g.144404008C>ACA348714757ZEB2c.*564G>T (n.*564G>T)
c.-63G>T (n.-63G>T)
c.715G>T (p.Glu239Ter)
n.684G>T
c.379G>T (p.Glu127Ter)
c.*432G>T (n.*432G>T)
n.815G>T
c.-133-5158G>T (n.-133-5158G>T)
c.712G>T (p.Glu238Ter)
c.799G>T (p.Glu267Ter)
c.454G>T (p.Glu152Ter)
c.802G>T (p.Glu268Ter)
c.700G>T (p.Glu234Ter)
n.661G>T
c.643G>T (p.Glu215Ter)
c.706G>T (p.Glu236Ter)
c.694G>T (p.Glu232Ter)
2g.144404008C>GCA348714758ZEB2c.*564G>C (n.*564G>C)
c.-63G>C (n.-63G>C)
c.715G>C (p.Glu239Gln)
n.684G>C
c.379G>C (p.Glu127Gln)
c.*432G>C (n.*432G>C)
n.815G>C
c.-133-5158G>C (n.-133-5158G>C)
c.712G>C (p.Glu238Gln)
c.799G>C (p.Glu267Gln)
c.454G>C (p.Glu152Gln)
c.802G>C (p.Glu268Gln)
c.700G>C (p.Glu234Gln)
n.661G>C
c.643G>C (p.Glu215Gln)
c.706G>C (p.Glu236Gln)
c.694G>C (p.Glu232Gln)
2g.144404008C>TCA348714759ZEB2c.*564G>A (n.*564G>A)
c.-63G>A (n.-63G>A)
c.715G>A (p.Glu239Lys)
n.684G>A
c.379G>A (p.Glu127Lys)
c.*432G>A (n.*432G>A)
n.815G>A
c.-133-5158G>A (n.-133-5158G>A)
c.712G>A (p.Glu238Lys)
c.799G>A (p.Glu267Lys)
c.454G>A (p.Glu152Lys)
c.802G>A (p.Glu268Lys)
c.700G>A (p.Glu234Lys)
n.661G>A
c.643G>A (p.Glu215Lys)
c.706G>A (p.Glu236Lys)
c.694G>A (p.Glu232Lys)
2g.144404009T>ACA348714760ZEB2c.*563A>T (n.*563A>T)
c.-64A>T (n.-64A>T)
c.714A>T (p.Glu238Asp)
n.683A>T
c.378A>T (p.Glu126Asp)
c.*431A>T (n.*431A>T)
n.814A>T
c.-133-5159A>T (n.-133-5159A>T)
c.711A>T (p.Glu237Asp)
c.798A>T (p.Glu266Asp)
c.453A>T (p.Glu151Asp)
c.801A>T (p.Glu267Asp)
c.699A>T (p.Glu233Asp)
n.660A>T
c.642A>T (p.Glu214Asp)
c.705A>T (p.Glu235Asp)
c.693A>T (p.Glu231Asp)
 gnomAD v4
2g.144404009T>CCA429218532ZEB2c.*563A>G (n.*563A>G)
c.-64A>G (n.-64A>G)
c.714A>G (p.Glu238=)
n.683A>G
c.378A>G (p.Glu126=)
c.*431A>G (n.*431A>G)
n.814A>G
c.-133-5159A>G (n.-133-5159A>G)
c.711A>G (p.Glu237=)
c.798A>G (p.Glu266=)
c.453A>G (p.Glu151=)
c.801A>G (p.Glu267=)
c.699A>G (p.Glu233=)
n.660A>G
c.642A>G (p.Glu214=)
c.705A>G (p.Glu235=)
c.693A>G (p.Glu231=)
 ClinVar dbSNP
2g.144404009T>GCA348714761ZEB2c.*563A>C (n.*563A>C)
c.-64A>C (n.-64A>C)
c.714A>C (p.Glu238Asp)
n.683A>C
c.378A>C (p.Glu126Asp)
c.*431A>C (n.*431A>C)
n.814A>C
c.-133-5159A>C (n.-133-5159A>C)
c.711A>C (p.Glu237Asp)
c.798A>C (p.Glu266Asp)
c.453A>C (p.Glu151Asp)
c.801A>C (p.Glu267Asp)
c.699A>C (p.Glu233Asp)
n.660A>C
c.642A>C (p.Glu214Asp)
c.705A>C (p.Glu235Asp)
c.693A>C (p.Glu231Asp)
2g.144404010delCA429218531ZEB2c.*563del (n.*563del)
c.-64del (n.-64del)
c.714del (p.Glu239ArgfsTer23)
n.683del
c.378del (p.Glu127ArgfsTer23)
c.*431del (n.*431del)
n.814del
c.-133-5159del (n.-133-5159del)
c.711del (p.Glu238ArgfsTer23)
c.798del (p.Glu267ArgfsTer23)
c.453del (p.Glu152ArgfsTer23)
c.801del (p.Glu268ArgfsTer23)
c.699del (p.Glu234ArgfsTer23)
n.660del
c.642del (p.Glu215ArgfsTer23)
c.705del (p.Glu236ArgfsTer23)
c.693del (p.Glu232ArgfsTer23)
2g.144404010T>ACA348714762ZEB2c.*562A>T (n.*562A>T)
c.-65A>T (n.-65A>T)
c.713A>T (p.Glu238Val)
n.682A>T
c.377A>T (p.Glu126Val)
c.*430A>T (n.*430A>T)
n.813A>T
c.-133-5160A>T (n.-133-5160A>T)
c.710A>T (p.Glu237Val)
c.797A>T (p.Glu266Val)
c.452A>T (p.Glu151Val)
c.800A>T (p.Glu267Val)
c.698A>T (p.Glu233Val)
n.659A>T
c.641A>T (p.Glu214Val)
c.704A>T (p.Glu235Val)
c.692A>T (p.Glu231Val)
2g.144404010T>CCA348714763ZEB2c.*562A>G (n.*562A>G)
c.-65A>G (n.-65A>G)
c.713A>G (p.Glu238Gly)
n.682A>G
c.377A>G (p.Glu126Gly)
c.*430A>G (n.*430A>G)
n.813A>G
c.-133-5160A>G (n.-133-5160A>G)
c.710A>G (p.Glu237Gly)
c.797A>G (p.Glu266Gly)
c.452A>G (p.Glu151Gly)
c.800A>G (p.Glu267Gly)
c.698A>G (p.Glu233Gly)
n.659A>G
c.641A>G (p.Glu214Gly)
c.704A>G (p.Glu235Gly)
c.692A>G (p.Glu231Gly)
2g.144404010T>GCA348714764ZEB2c.*562A>C (n.*562A>C)
c.-65A>C (n.-65A>C)
c.713A>C (p.Glu238Ala)
n.682A>C
c.377A>C (p.Glu126Ala)
c.*430A>C (n.*430A>C)
n.813A>C
c.-133-5160A>C (n.-133-5160A>C)
c.710A>C (p.Glu237Ala)
c.797A>C (p.Glu266Ala)
c.452A>C (p.Glu151Ala)
c.800A>C (p.Glu267Ala)
c.698A>C (p.Glu233Ala)
n.659A>C
c.641A>C (p.Glu214Ala)
c.704A>C (p.Glu235Ala)
c.692A>C (p.Glu231Ala)
2g.144404011C>ACA348714765ZEB2c.*561G>T (n.*561G>T)
c.-66G>T (n.-66G>T)
c.712G>T (p.Glu238Ter)
n.681G>T
c.376G>T (p.Glu126Ter)
c.*429G>T (n.*429G>T)
n.812G>T
c.-133-5161G>T (n.-133-5161G>T)
c.709G>T (p.Glu237Ter)
c.796G>T (p.Glu266Ter)
c.451G>T (p.Glu151Ter)
c.799G>T (p.Glu267Ter)
c.697G>T (p.Glu233Ter)
n.658G>T
c.640G>T (p.Glu214Ter)
c.703G>T (p.Glu235Ter)
c.691G>T (p.Glu231Ter)
 ClinVar dbSNP COSMIC
2g.144404011C>GCA348714766ZEB2c.*561G>C (n.*561G>C)
c.-66G>C (n.-66G>C)
c.712G>C (p.Glu238Gln)
n.681G>C
c.376G>C (p.Glu126Gln)
c.*429G>C (n.*429G>C)
n.812G>C
c.-133-5161G>C (n.-133-5161G>C)
c.709G>C (p.Glu237Gln)
c.796G>C (p.Glu266Gln)
c.451G>C (p.Glu151Gln)
c.799G>C (p.Glu267Gln)
c.697G>C (p.Glu233Gln)
n.658G>C
c.640G>C (p.Glu214Gln)
c.703G>C (p.Glu235Gln)
c.691G>C (p.Glu231Gln)
2g.144404011C>TCA348714767ZEB2c.*561G>A (n.*561G>A)
c.-66G>A (n.-66G>A)
c.712G>A (p.Glu238Lys)
n.681G>A
c.376G>A (p.Glu126Lys)
c.*429G>A (n.*429G>A)
n.812G>A
c.-133-5161G>A (n.-133-5161G>A)
c.709G>A (p.Glu237Lys)
c.796G>A (p.Glu266Lys)
c.451G>A (p.Glu151Lys)
c.799G>A (p.Glu267Lys)
c.697G>A (p.Glu233Lys)
n.658G>A
c.640G>A (p.Glu214Lys)
c.703G>A (p.Glu235Lys)
c.691G>A (p.Glu231Lys)
 COSMIC
2g.144404012A=CA1294887198ZEB2c.*560T= (n.*560T=)
c.-67T= (n.-67T=)
c.711T= (p.Asn237=)
n.680T=
c.375T= (p.Asn125=)
c.*428T= (n.*428T=)
n.811T=
c.-133-5162T= (n.-133-5162T=)
c.708T= (p.Asn236=)
c.795T= (p.Asn265=)
c.450T= (p.Asn150=)
c.798T= (p.Asn266=)
c.696T= (p.Asn232=)
n.657T=
c.639T= (p.Asn213=)
c.702T= (p.Asn234=)
c.690T= (p.Asn230=)
2g.144404012A>CCA348714768ZEB2c.*560T>G (n.*560T>G)
c.-67T>G (n.-67T>G)
c.711T>G (p.Asn237Lys)
n.680T>G
c.375T>G (p.Asn125Lys)
c.*428T>G (n.*428T>G)
n.811T>G
c.-133-5162T>G (n.-133-5162T>G)
c.708T>G (p.Asn236Lys)
c.795T>G (p.Asn265Lys)
c.450T>G (p.Asn150Lys)
c.798T>G (p.Asn266Lys)
c.696T>G (p.Asn232Lys)
n.657T>G
c.639T>G (p.Asn213Lys)
c.702T>G (p.Asn234Lys)
c.690T>G (p.Asn230Lys)
2g.144404012A>GCA1898425ZEB2c.*560T>C (n.*560T>C)
c.-67T>C (n.-67T>C)
c.711T>C (p.Asn237=)
n.680T>C
c.375T>C (p.Asn125=)
c.*428T>C (n.*428T>C)
n.811T>C
c.-133-5162T>C (n.-133-5162T>C)
c.708T>C (p.Asn236=)
c.795T>C (p.Asn265=)
c.450T>C (p.Asn150=)
c.798T>C (p.Asn266=)
c.696T>C (p.Asn232=)
n.657T>C
c.639T>C (p.Asn213=)
c.702T>C (p.Asn234=)
c.690T>C (p.Asn230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.144404012A>TCA348714769ZEB2c.*560T>A (n.*560T>A)
c.-67T>A (n.-67T>A)
c.711T>A (p.Asn237Lys)
n.680T>A
c.375T>A (p.Asn125Lys)
c.*428T>A (n.*428T>A)
n.811T>A
c.-133-5162T>A (n.-133-5162T>A)
c.708T>A (p.Asn236Lys)
c.795T>A (p.Asn265Lys)
c.450T>A (p.Asn150Lys)
c.798T>A (p.Asn266Lys)
c.696T>A (p.Asn232Lys)
n.657T>A
c.639T>A (p.Asn213Lys)
c.702T>A (p.Asn234Lys)
c.690T>A (p.Asn230Lys)
2g.144404013T>ACA348714771ZEB2c.*559A>T (n.*559A>T)
c.-68A>T (n.-68A>T)
c.710A>T (p.Asn237Ile)
n.679A>T
c.374A>T (p.Asn125Ile)
c.*427A>T (n.*427A>T)
n.810A>T
c.-133-5163A>T (n.-133-5163A>T)
c.707A>T (p.Asn236Ile)
c.794A>T (p.Asn265Ile)
c.449A>T (p.Asn150Ile)
c.797A>T (p.Asn266Ile)
c.695A>T (p.Asn232Ile)
n.656A>T
c.638A>T (p.Asn213Ile)
c.701A>T (p.Asn234Ile)
c.689A>T (p.Asn230Ile)
2g.144404013T>CCA57561799ZEB2c.*559A>G (n.*559A>G)
c.-68A>G (n.-68A>G)
c.710A>G (p.Asn237Ser)
n.679A>G
c.374A>G (p.Asn125Ser)
c.*427A>G (n.*427A>G)
n.810A>G
c.-133-5163A>G (n.-133-5163A>G)
c.707A>G (p.Asn236Ser)
c.794A>G (p.Asn265Ser)
c.449A>G (p.Asn150Ser)
c.797A>G (p.Asn266Ser)
c.695A>G (p.Asn232Ser)
n.656A>G
c.638A>G (p.Asn213Ser)
c.701A>G (p.Asn234Ser)
c.689A>G (p.Asn230Ser)
 dbSNP
2g.144404013T>GCA348714770ZEB2c.*559A>C (n.*559A>C)
c.-68A>C (n.-68A>C)
c.710A>C (p.Asn237Thr)
n.679A>C
c.374A>C (p.Asn125Thr)
c.*427A>C (n.*427A>C)
n.810A>C
c.-133-5163A>C (n.-133-5163A>C)
c.707A>C (p.Asn236Thr)
c.794A>C (p.Asn265Thr)
c.449A>C (p.Asn150Thr)
c.797A>C (p.Asn266Thr)
c.695A>C (p.Asn232Thr)
n.656A>C
c.638A>C (p.Asn213Thr)
c.701A>C (p.Asn234Thr)
c.689A>C (p.Asn230Thr)
2g.144404013T=CA1294887199ZEB2c.*559A= (n.*559A=)
c.-68A= (n.-68A=)
c.710A= (p.Asn237=)
n.679A=
c.374A= (p.Asn125=)
c.*427A= (n.*427A=)
n.810A=
c.-133-5163A= (n.-133-5163A=)
c.707A= (p.Asn236=)
c.794A= (p.Asn265=)
c.449A= (p.Asn150=)
c.797A= (p.Asn266=)
c.695A= (p.Asn232=)
n.656A=
c.638A= (p.Asn213=)
c.701A= (p.Asn234=)
c.689A= (p.Asn230=)
2g.144404014T>ACA348714772ZEB2c.*558A>T (n.*558A>T)
c.-69A>T (n.-69A>T)
c.709A>T (p.Asn237Tyr)
n.678A>T
c.373A>T (p.Asn125Tyr)
c.*426A>T (n.*426A>T)
n.809A>T
c.-133-5164A>T (n.-133-5164A>T)
c.706A>T (p.Asn236Tyr)
c.793A>T (p.Asn265Tyr)
c.448A>T (p.Asn150Tyr)
c.796A>T (p.Asn266Tyr)
c.694A>T (p.Asn232Tyr)
n.655A>T
c.637A>T (p.Asn213Tyr)
c.700A>T (p.Asn234Tyr)
c.688A>T (p.Asn230Tyr)
2g.144404014T>CCA348714773ZEB2c.*558A>G (n.*558A>G)
c.-69A>G (n.-69A>G)
c.709A>G (p.Asn237Asp)
n.678A>G
c.373A>G (p.Asn125Asp)
c.*426A>G (n.*426A>G)
n.809A>G
c.-133-5164A>G (n.-133-5164A>G)
c.706A>G (p.Asn236Asp)
c.793A>G (p.Asn265Asp)
c.448A>G (p.Asn150Asp)
c.796A>G (p.Asn266Asp)
c.694A>G (p.Asn232Asp)
n.655A>G
c.637A>G (p.Asn213Asp)
c.700A>G (p.Asn234Asp)
c.688A>G (p.Asn230Asp)
2g.144404014T>GCA348714774ZEB2c.*558A>C (n.*558A>C)
c.-69A>C (n.-69A>C)
c.709A>C (p.Asn237His)
n.678A>C
c.373A>C (p.Asn125His)
c.*426A>C (n.*426A>C)
n.809A>C
c.-133-5164A>C (n.-133-5164A>C)
c.706A>C (p.Asn236His)
c.793A>C (p.Asn265His)
c.448A>C (p.Asn150His)
c.796A>C (p.Asn266His)
c.694A>C (p.Asn232His)
n.655A>C
c.637A>C (p.Asn213His)
c.700A>C (p.Asn234His)
c.688A>C (p.Asn230His)
2g.144404015C>ACA348714775ZEB2c.*557G>T (n.*557G>T)
c.-70G>T (n.-70G>T)
c.708G>T (p.Lys236Asn)
n.677G>T
c.372G>T (p.Lys124Asn)
c.*425G>T (n.*425G>T)
n.808G>T
c.-133-5165G>T (n.-133-5165G>T)
c.705G>T (p.Lys235Asn)
c.792G>T (p.Lys264Asn)
c.447G>T (p.Lys149Asn)
c.795G>T (p.Lys265Asn)
c.693G>T (p.Lys231Asn)
n.654G>T
c.636G>T (p.Lys212Asn)
c.699G>T (p.Lys233Asn)
c.687G>T (p.Lys229Asn)
2g.144404015C>GCA348714776ZEB2c.*557G>C (n.*557G>C)
c.-70G>C (n.-70G>C)
c.708G>C (p.Lys236Asn)
n.677G>C
c.372G>C (p.Lys124Asn)
c.*425G>C (n.*425G>C)
n.808G>C
c.-133-5165G>C (n.-133-5165G>C)
c.705G>C (p.Lys235Asn)
c.792G>C (p.Lys264Asn)
c.447G>C (p.Lys149Asn)
c.795G>C (p.Lys265Asn)
c.693G>C (p.Lys231Asn)
n.654G>C
c.636G>C (p.Lys212Asn)
c.699G>C (p.Lys233Asn)
c.687G>C (p.Lys229Asn)
2g.144404015C>TCA429218537ZEB2c.*557G>A (n.*557G>A)
c.-70G>A (n.-70G>A)
c.708G>A (p.Lys236=)
n.677G>A
c.372G>A (p.Lys124=)
c.*425G>A (n.*425G>A)
n.808G>A
c.-133-5165G>A (n.-133-5165G>A)
c.705G>A (p.Lys235=)
c.792G>A (p.Lys264=)
c.447G>A (p.Lys149=)
c.795G>A (p.Lys265=)
c.693G>A (p.Lys231=)
n.654G>A
c.636G>A (p.Lys212=)
c.699G>A (p.Lys233=)
c.687G>A (p.Lys229=)
 ClinVar dbSNP
2g.144404016T>ACA348714777ZEB2c.*556A>T (n.*556A>T)
c.-71A>T (n.-71A>T)
c.707A>T (p.Lys236Met)
n.676A>T
c.371A>T (p.Lys124Met)
c.*424A>T (n.*424A>T)
n.807A>T
c.-133-5166A>T (n.-133-5166A>T)
c.704A>T (p.Lys235Met)
c.791A>T (p.Lys264Met)
c.446A>T (p.Lys149Met)
c.794A>T (p.Lys265Met)
c.692A>T (p.Lys231Met)
n.653A>T
c.635A>T (p.Lys212Met)
c.698A>T (p.Lys233Met)
c.686A>T (p.Lys229Met)
2g.144404016T>CCA348714778ZEB2c.*556A>G (n.*556A>G)
c.-71A>G (n.-71A>G)
c.707A>G (p.Lys236Arg)
n.676A>G
c.371A>G (p.Lys124Arg)
c.*424A>G (n.*424A>G)
n.807A>G
c.-133-5166A>G (n.-133-5166A>G)
c.704A>G (p.Lys235Arg)
c.791A>G (p.Lys264Arg)
c.446A>G (p.Lys149Arg)
c.794A>G (p.Lys265Arg)
c.692A>G (p.Lys231Arg)
n.653A>G
c.635A>G (p.Lys212Arg)
c.698A>G (p.Lys233Arg)
c.686A>G (p.Lys229Arg)
 ClinVar
2g.144404016T>GCA348714779ZEB2c.*556A>C (n.*556A>C)
c.-71A>C (n.-71A>C)
c.707A>C (p.Lys236Thr)
n.676A>C
c.371A>C (p.Lys124Thr)
c.*424A>C (n.*424A>C)
n.807A>C
c.-133-5166A>C (n.-133-5166A>C)
c.704A>C (p.Lys235Thr)
c.791A>C (p.Lys264Thr)
c.446A>C (p.Lys149Thr)
c.794A>C (p.Lys265Thr)
c.692A>C (p.Lys231Thr)
n.653A>C
c.635A>C (p.Lys212Thr)
c.698A>C (p.Lys233Thr)
c.686A>C (p.Lys229Thr)
2g.144404017T>ACA348714780ZEB2c.*555A>T (n.*555A>T)
c.-72A>T (n.-72A>T)
c.706A>T (p.Lys236Ter)
n.675A>T
c.370A>T (p.Lys124Ter)
c.*423A>T (n.*423A>T)
n.806A>T
c.-133-5167A>T (n.-133-5167A>T)
c.703A>T (p.Lys235Ter)
c.790A>T (p.Lys264Ter)
c.445A>T (p.Lys149Ter)
c.793A>T (p.Lys265Ter)
c.691A>T (p.Lys231Ter)
n.652A>T
c.634A>T (p.Lys212Ter)
c.697A>T (p.Lys233Ter)
c.685A>T (p.Lys229Ter)
2g.144404017T>CCA348714781ZEB2c.*555A>G (n.*555A>G)
c.-72A>G (n.-72A>G)
c.706A>G (p.Lys236Glu)
n.675A>G
c.370A>G (p.Lys124Glu)
c.*423A>G (n.*423A>G)
n.806A>G
c.-133-5167A>G (n.-133-5167A>G)
c.703A>G (p.Lys235Glu)
c.790A>G (p.Lys264Glu)
c.445A>G (p.Lys149Glu)
c.793A>G (p.Lys265Glu)
c.691A>G (p.Lys231Glu)
n.652A>G
c.634A>G (p.Lys212Glu)
c.697A>G (p.Lys233Glu)
c.685A>G (p.Lys229Glu)
2g.144404017T>GCA348714782ZEB2c.*555A>C (n.*555A>C)
c.-72A>C (n.-72A>C)
c.706A>C (p.Lys236Gln)
n.675A>C
c.370A>C (p.Lys124Gln)
c.*423A>C (n.*423A>C)
n.806A>C
c.-133-5167A>C (n.-133-5167A>C)
c.703A>C (p.Lys235Gln)
c.790A>C (p.Lys264Gln)
c.445A>C (p.Lys149Gln)
c.793A>C (p.Lys265Gln)
c.691A>C (p.Lys231Gln)
n.652A>C
c.634A>C (p.Lys212Gln)
c.697A>C (p.Lys233Gln)
c.685A>C (p.Lys229Gln)
2g.144404019_144404020delCA2586965037ZEB2c.*554_*555del (n.*554_*555del)
c.-73_-72del (n.-73_-72del)
c.705_706del (p.Lys236GlufsTer2)
n.674_675del
c.369_370del (p.Lys124GlufsTer2)
c.*422_*423del (n.*422_*423del)
n.805_806del
c.-133-5168_-133-5167del (n.-133-5168_-133-5167del)
c.702_703del (p.Lys235GlufsTer2)
c.789_790del (p.Lys264GlufsTer2)
c.444_445del (p.Lys149GlufsTer2)
c.792_793del (p.Lys265GlufsTer2)
c.690_691del (p.Lys231GlufsTer2)
n.651_652del
c.633_634del (p.Lys212GlufsTer2)
c.696_697del (p.Lys233GlufsTer2)
c.684_685del (p.Lys229GlufsTer2)
2g.144404018C>ACA348714783ZEB2c.*554G>T (n.*554G>T)
c.-73G>T (n.-73G>T)
c.705G>T (p.Glu235Asp)
n.674G>T
c.369G>T (p.Glu123Asp)
c.*422G>T (n.*422G>T)
n.805G>T
c.-133-5168G>T (n.-133-5168G>T)
c.702G>T (p.Glu234Asp)
c.789G>T (p.Glu263Asp)
c.444G>T (p.Glu148Asp)
c.792G>T (p.Glu264Asp)
c.690G>T (p.Glu230Asp)
n.651G>T
c.633G>T (p.Glu211Asp)
c.696G>T (p.Glu232Asp)
c.684G>T (p.Glu228Asp)
2g.144404018C>GCA348714784ZEB2c.*554G>C (n.*554G>C)
c.-73G>C (n.-73G>C)
c.705G>C (p.Glu235Asp)
n.674G>C
c.369G>C (p.Glu123Asp)
c.*422G>C (n.*422G>C)
n.805G>C
c.-133-5168G>C (n.-133-5168G>C)
c.702G>C (p.Glu234Asp)
c.789G>C (p.Glu263Asp)
c.444G>C (p.Glu148Asp)
c.792G>C (p.Glu264Asp)
c.690G>C (p.Glu230Asp)
n.651G>C
c.633G>C (p.Glu211Asp)
c.696G>C (p.Glu232Asp)
c.684G>C (p.Glu228Asp)
2g.144404018C>TCA429218539ZEB2c.*554G>A (n.*554G>A)
c.-73G>A (n.-73G>A)
c.705G>A (p.Glu235=)
n.674G>A
c.369G>A (p.Glu123=)
c.*422G>A (n.*422G>A)
n.805G>A
c.-133-5168G>A (n.-133-5168G>A)
c.702G>A (p.Glu234=)
c.789G>A (p.Glu263=)
c.444G>A (p.Glu148=)
c.792G>A (p.Glu264=)
c.690G>A (p.Glu230=)
n.651G>A
c.633G>A (p.Glu211=)
c.696G>A (p.Glu232=)
c.684G>A (p.Glu228=)
2g.144404019T>ACA348714785ZEB2c.*553A>T (n.*553A>T)
c.-74A>T (n.-74A>T)
c.704A>T (p.Glu235Val)
n.673A>T
c.368A>T (p.Glu123Val)
c.*421A>T (n.*421A>T)
n.804A>T
c.-133-5169A>T (n.-133-5169A>T)
c.701A>T (p.Glu234Val)
c.788A>T (p.Glu263Val)
c.443A>T (p.Glu148Val)
c.791A>T (p.Glu264Val)
c.689A>T (p.Glu230Val)
n.650A>T
c.632A>T (p.Glu211Val)
c.695A>T (p.Glu232Val)
c.683A>T (p.Glu228Val)
2g.144404019T>CCA57561839ZEB2c.*553A>G (n.*553A>G)
c.-74A>G (n.-74A>G)
c.704A>G (p.Glu235Gly)
n.673A>G
c.368A>G (p.Glu123Gly)
c.*421A>G (n.*421A>G)
n.804A>G
c.-133-5169A>G (n.-133-5169A>G)
c.701A>G (p.Glu234Gly)
c.788A>G (p.Glu263Gly)
c.443A>G (p.Glu148Gly)
c.791A>G (p.Glu264Gly)
c.689A>G (p.Glu230Gly)
n.650A>G
c.632A>G (p.Glu211Gly)
c.695A>G (p.Glu232Gly)
c.683A>G (p.Glu228Gly)
 dbSNP
2g.144404019T>GCA348714786ZEB2c.*553A>C (n.*553A>C)
c.-74A>C (n.-74A>C)
c.704A>C (p.Glu235Ala)
n.673A>C
c.368A>C (p.Glu123Ala)
c.*421A>C (n.*421A>C)
n.804A>C
c.-133-5169A>C (n.-133-5169A>C)
c.701A>C (p.Glu234Ala)
c.788A>C (p.Glu263Ala)
c.443A>C (p.Glu148Ala)
c.791A>C (p.Glu264Ala)
c.689A>C (p.Glu230Ala)
n.650A>C
c.632A>C (p.Glu211Ala)
c.695A>C (p.Glu232Ala)
c.683A>C (p.Glu228Ala)
2g.144404019T=CA1294887201ZEB2c.*553A= (n.*553A=)
c.-74A= (n.-74A=)
c.704A= (p.Glu235=)
n.673A=
c.368A= (p.Glu123=)
c.*421A= (n.*421A=)
n.804A=
c.-133-5169A= (n.-133-5169A=)
c.701A= (p.Glu234=)
c.788A= (p.Glu263=)
c.443A= (p.Glu148=)
c.791A= (p.Glu264=)
c.689A= (p.Glu230=)
n.650A=
c.632A= (p.Glu211=)
c.695A= (p.Glu232=)
c.683A= (p.Glu228=)
2g.144404019_144404020delinsTCCA1294887200ZEB2c.*552_*553delinsGA (n.*552_*553delinsGA)
c.-75_-74delinsGA (n.-75_-74delinsGA)
c.703_704delinsGA (p.Glu235=)
n.672_673delinsGA
c.367_368delinsGA (p.Glu123=)
c.*420_*421delinsGA (n.*420_*421delinsGA)
n.803_804delinsGA
c.-133-5170_-133-5169delinsGA (n.-133-5170_-133-5169delinsGA)
c.700_701delinsGA (p.Glu234=)
c.787_788delinsGA (p.Glu263=)
c.442_443delinsGA (p.Glu148=)
c.790_791delinsGA (p.Glu264=)
c.688_689delinsGA (p.Glu230=)
n.649_650delinsGA
c.631_632delinsGA (p.Glu211=)
c.694_695delinsGA (p.Glu232=)
c.682_683delinsGA (p.Glu228=)
2g.144404020delCA274512ZEB2c.*552del (n.*552del)
c.-75del (n.-75del)
c.703del (p.Glu235ArgfsTer27)
n.672del
c.367del (p.Glu123ArgfsTer27)
c.*420del (n.*420del)
n.803del
c.-133-5170del (n.-133-5170del)
c.700del (p.Glu234ArgfsTer27)
c.787del (p.Glu263ArgfsTer27)
c.442del (p.Glu148ArgfsTer27)
c.790del (p.Glu264ArgfsTer27)
c.688del (p.Glu230ArgfsTer27)
n.649del
c.631del (p.Glu211ArgfsTer27)
c.694del (p.Glu232ArgfsTer27)
c.682del (p.Glu228ArgfsTer27)
 ClinVar dbSNP
2g.144404020C>ACA348714787ZEB2c.*552G>T (n.*552G>T)
c.-75G>T (n.-75G>T)
c.703G>T (p.Glu235Ter)
n.672G>T
c.367G>T (p.Glu123Ter)
c.*420G>T (n.*420G>T)
n.803G>T
c.-133-5170G>T (n.-133-5170G>T)
c.700G>T (p.Glu234Ter)
c.787G>T (p.Glu263Ter)
c.442G>T (p.Glu148Ter)
c.790G>T (p.Glu264Ter)
c.688G>T (p.Glu230Ter)
n.649G>T
c.631G>T (p.Glu211Ter)
c.694G>T (p.Glu232Ter)
c.682G>T (p.Glu228Ter)
 ClinVar dbSNP
2g.144404020C=CA1294887202ZEB2c.*552G= (n.*552G=)
c.-75G= (n.-75G=)
c.703G= (p.Glu235=)
n.672G=
c.367G= (p.Glu123=)
c.*420G= (n.*420G=)
n.803G=
c.-133-5170G= (n.-133-5170G=)
c.700G= (p.Glu234=)
c.787G= (p.Glu263=)
c.442G= (p.Glu148=)
c.790G= (p.Glu264=)
c.688G= (p.Glu230=)
n.649G=
c.631G= (p.Glu211=)
c.694G= (p.Glu232=)
c.682G= (p.Glu228=)
2g.144404020C>GCA348714788ZEB2c.*552G>C (n.*552G>C)
c.-75G>C (n.-75G>C)
c.703G>C (p.Glu235Gln)
n.672G>C
c.367G>C (p.Glu123Gln)
c.*420G>C (n.*420G>C)
n.803G>C
c.-133-5170G>C (n.-133-5170G>C)
c.700G>C (p.Glu234Gln)
c.787G>C (p.Glu263Gln)
c.442G>C (p.Glu148Gln)
c.790G>C (p.Glu264Gln)
c.688G>C (p.Glu230Gln)
n.649G>C
c.631G>C (p.Glu211Gln)
c.694G>C (p.Glu232Gln)
c.682G>C (p.Glu228Gln)
2g.144404020C>TCA348714789ZEB2c.*552G>A (n.*552G>A)
c.-75G>A (n.-75G>A)
c.703G>A (p.Glu235Lys)
n.672G>A
c.367G>A (p.Glu123Lys)
c.*420G>A (n.*420G>A)
n.803G>A
c.-133-5170G>A (n.-133-5170G>A)
c.700G>A (p.Glu234Lys)
c.787G>A (p.Glu263Lys)
c.442G>A (p.Glu148Lys)
c.790G>A (p.Glu264Lys)
c.688G>A (p.Glu230Lys)
n.649G>A
c.631G>A (p.Glu211Lys)
c.694G>A (p.Glu232Lys)
c.682G>A (p.Glu228Lys)
 ClinVar dbSNP
2g.144404021G>ACA1898426ZEB2c.*551C>T (n.*551C>T)
c.-76C>T (n.-76C>T)
c.702C>T (p.His234=)
n.671C>T
c.366C>T (p.His122=)
c.*419C>T (n.*419C>T)
n.802C>T
c.-133-5171C>T (n.-133-5171C>T)
c.699C>T (p.His233=)
c.786C>T (p.His262=)
c.441C>T (p.His147=)
c.789C>T (p.His263=)
c.687C>T (p.His229=)
n.648C>T
c.630C>T (p.His210=)
c.693C>T (p.His231=)
c.681C>T (p.His227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.144404021G>CCA348714790ZEB2c.*551C>G (n.*551C>G)
c.-76C>G (n.-76C>G)
c.702C>G (p.His234Gln)
n.671C>G
c.366C>G (p.His122Gln)
c.*419C>G (n.*419C>G)
n.802C>G
c.-133-5171C>G (n.-133-5171C>G)
c.699C>G (p.His233Gln)
c.786C>G (p.His262Gln)
c.441C>G (p.His147Gln)
c.789C>G (p.His263Gln)
c.687C>G (p.His229Gln)
n.648C>G
c.630C>G (p.His210Gln)
c.693C>G (p.His231Gln)
c.681C>G (p.His227Gln)
2g.144404021G=CA1294887203ZEB2c.*551C= (n.*551C=)
c.-76C= (n.-76C=)
c.702C= (p.His234=)
n.671C=
c.366C= (p.His122=)
c.*419C= (n.*419C=)
n.802C=
c.-133-5171C= (n.-133-5171C=)
c.699C= (p.His233=)
c.786C= (p.His262=)
c.441C= (p.His147=)
c.789C= (p.His263=)
c.687C= (p.His229=)
n.648C=
c.630C= (p.His210=)
c.693C= (p.His231=)
c.681C= (p.His227=)
2g.144404021G>TCA348714791ZEB2c.*551C>A (n.*551C>A)
c.-76C>A (n.-76C>A)
c.702C>A (p.His234Gln)
n.671C>A
c.366C>A (p.His122Gln)
c.*419C>A (n.*419C>A)
n.802C>A
c.-133-5171C>A (n.-133-5171C>A)
c.699C>A (p.His233Gln)
c.786C>A (p.His262Gln)
c.441C>A (p.His147Gln)
c.789C>A (p.His263Gln)
c.687C>A (p.His229Gln)
n.648C>A
c.630C>A (p.His210Gln)
c.693C>A (p.His231Gln)
c.681C>A (p.His227Gln)
2g.144404022T>ACA1898427ZEB2c.*550A>T (n.*550A>T)
c.-77A>T (n.-77A>T)
c.701A>T (p.His234Leu)
n.670A>T
c.365A>T (p.His122Leu)
c.*418A>T (n.*418A>T)
n.801A>T
c.-133-5172A>T (n.-133-5172A>T)
c.698A>T (p.His233Leu)
c.785A>T (p.His262Leu)
c.440A>T (p.His147Leu)
c.788A>T (p.His263Leu)
c.686A>T (p.His229Leu)
n.647A>T
c.629A>T (p.His210Leu)
c.692A>T (p.His231Leu)
c.680A>T (p.His227Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144404022T>CCA348714792ZEB2c.*550A>G (n.*550A>G)
c.-77A>G (n.-77A>G)
c.701A>G (p.His234Arg)
n.670A>G
c.365A>G (p.His122Arg)
c.*418A>G (n.*418A>G)
n.801A>G
c.-133-5172A>G (n.-133-5172A>G)
c.698A>G (p.His233Arg)
c.785A>G (p.His262Arg)
c.440A>G (p.His147Arg)
c.788A>G (p.His263Arg)
c.686A>G (p.His229Arg)
n.647A>G
c.629A>G (p.His210Arg)
c.692A>G (p.His231Arg)
c.680A>G (p.His227Arg)
2g.144404022T>GCA348714793ZEB2c.*550A>C (n.*550A>C)
c.-77A>C (n.-77A>C)
c.701A>C (p.His234Pro)
n.670A>C
c.365A>C (p.His122Pro)
c.*418A>C (n.*418A>C)
n.801A>C
c.-133-5172A>C (n.-133-5172A>C)
c.698A>C (p.His233Pro)
c.785A>C (p.His262Pro)
c.440A>C (p.His147Pro)
c.788A>C (p.His263Pro)
c.686A>C (p.His229Pro)
n.647A>C
c.629A>C (p.His210Pro)
c.692A>C (p.His231Pro)
c.680A>C (p.His227Pro)
2g.144404022T=CA1294887204ZEB2c.*550A= (n.*550A=)
c.-77A= (n.-77A=)
c.701A= (p.His234=)
n.670A=
c.365A= (p.His122=)
c.*418A= (n.*418A=)
n.801A=
c.-133-5172A= (n.-133-5172A=)
c.698A= (p.His233=)
c.785A= (p.His262=)
c.440A= (p.His147=)
c.788A= (p.His263=)
c.686A= (p.His229=)
n.647A=
c.629A= (p.His210=)
c.692A= (p.His231=)
c.680A= (p.His227=)
2g.144404023G>ACA348714796ZEB2c.*549C>T (n.*549C>T)
c.-78C>T (n.-78C>T)
c.700C>T (p.His234Tyr)
n.669C>T
c.364C>T (p.His122Tyr)
c.*417C>T (n.*417C>T)
n.800C>T
c.-133-5173C>T (n.-133-5173C>T)
c.697C>T (p.His233Tyr)
c.784C>T (p.His262Tyr)
c.439C>T (p.His147Tyr)
c.787C>T (p.His263Tyr)
c.685C>T (p.His229Tyr)
n.646C>T
c.628C>T (p.His210Tyr)
c.691C>T (p.His231Tyr)
c.679C>T (p.His227Tyr)
2g.144404023G>CCA348714795ZEB2c.*549C>G (n.*549C>G)
c.-78C>G (n.-78C>G)
c.700C>G (p.His234Asp)
n.669C>G
c.364C>G (p.His122Asp)
c.*417C>G (n.*417C>G)
n.800C>G
c.-133-5173C>G (n.-133-5173C>G)
c.697C>G (p.His233Asp)
c.784C>G (p.His262Asp)
c.439C>G (p.His147Asp)
c.787C>G (p.His263Asp)
c.685C>G (p.His229Asp)
n.646C>G
c.628C>G (p.His210Asp)
c.691C>G (p.His231Asp)
c.679C>G (p.His227Asp)
2g.144404023G>TCA348714794ZEB2c.*549C>A (n.*549C>A)
c.-78C>A (n.-78C>A)
c.700C>A (p.His234Asn)
n.669C>A
c.364C>A (p.His122Asn)
c.*417C>A (n.*417C>A)
n.800C>A
c.-133-5173C>A (n.-133-5173C>A)
c.697C>A (p.His233Asn)
c.784C>A (p.His262Asn)
c.439C>A (p.His147Asn)
c.787C>A (p.His263Asn)
c.685C>A (p.His229Asn)
n.646C>A
c.628C>A (p.His210Asn)
c.691C>A (p.His231Asn)
c.679C>A (p.His227Asn)
 COSMIC
2g.144404024G>ACA429218541ZEB2c.*548C>T (n.*548C>T)
c.-79C>T (n.-79C>T)
c.699C>T (p.Arg233=)
n.668C>T
c.363C>T (p.Arg121=)
c.*416C>T (n.*416C>T)
n.799C>T
c.-133-5174C>T (n.-133-5174C>T)
c.696C>T (p.Arg232=)
c.783C>T (p.Arg261=)
c.438C>T (p.Arg146=)
c.786C>T (p.Arg262=)
c.684C>T (p.Arg228=)
n.645C>T
c.627C>T (p.Arg209=)
c.690C>T (p.Arg230=)
c.678C>T (p.Arg226=)
2g.144404024G>CCA429218542ZEB2c.*548C>G (n.*548C>G)
c.-79C>G (n.-79C>G)
c.699C>G (p.Arg233=)
n.668C>G
c.363C>G (p.Arg121=)
c.*416C>G (n.*416C>G)
n.799C>G
c.-133-5174C>G (n.-133-5174C>G)
c.696C>G (p.Arg232=)
c.783C>G (p.Arg261=)
c.438C>G (p.Arg146=)
c.786C>G (p.Arg262=)
c.684C>G (p.Arg228=)
n.645C>G
c.627C>G (p.Arg209=)
c.690C>G (p.Arg230=)
c.678C>G (p.Arg226=)
2g.144404024G>TCA429218543ZEB2c.*548C>A (n.*548C>A)
c.-79C>A (n.-79C>A)
c.699C>A (p.Arg233=)
n.668C>A
c.363C>A (p.Arg121=)
c.*416C>A (n.*416C>A)
n.799C>A
c.-133-5174C>A (n.-133-5174C>A)
c.696C>A (p.Arg232=)
c.783C>A (p.Arg261=)
c.438C>A (p.Arg146=)
c.786C>A (p.Arg262=)
c.684C>A (p.Arg228=)
n.645C>A
c.627C>A (p.Arg209=)
c.690C>A (p.Arg230=)
c.678C>A (p.Arg226=)
2g.144404025C>ACA348714797ZEB2c.*547G>T (n.*547G>T)
c.-80G>T (n.-80G>T)
c.698G>T (p.Arg233Leu)
n.667G>T
c.362G>T (p.Arg121Leu)
c.*415G>T (n.*415G>T)
n.798G>T
c.-133-5175G>T (n.-133-5175G>T)
c.695G>T (p.Arg232Leu)
c.782G>T (p.Arg261Leu)
c.437G>T (p.Arg146Leu)
c.785G>T (p.Arg262Leu)
c.683G>T (p.Arg228Leu)
n.644G>T
c.626G>T (p.Arg209Leu)
c.689G>T (p.Arg230Leu)
c.677G>T (p.Arg226Leu)
2g.144404025C>GCA348714798ZEB2c.*547G>C (n.*547G>C)
c.-80G>C (n.-80G>C)
c.698G>C (p.Arg233Pro)
n.667G>C
c.362G>C (p.Arg121Pro)
c.*415G>C (n.*415G>C)
n.798G>C
c.-133-5175G>C (n.-133-5175G>C)
c.695G>C (p.Arg232Pro)
c.782G>C (p.Arg261Pro)
c.437G>C (p.Arg146Pro)
c.785G>C (p.Arg262Pro)
c.683G>C (p.Arg228Pro)
n.644G>C
c.626G>C (p.Arg209Pro)
c.689G>C (p.Arg230Pro)
c.677G>C (p.Arg226Pro)
2g.144404025C>TCA348714799ZEB2c.*547G>A (n.*547G>A)
c.-80G>A (n.-80G>A)
c.698G>A (p.Arg233His)
n.667G>A
c.362G>A (p.Arg121His)
c.*415G>A (n.*415G>A)
n.798G>A
c.-133-5175G>A (n.-133-5175G>A)
c.695G>A (p.Arg232His)
c.782G>A (p.Arg261His)
c.437G>A (p.Arg146His)
c.785G>A (p.Arg262His)
c.683G>A (p.Arg228His)
n.644G>A
c.626G>A (p.Arg209His)
c.689G>A (p.Arg230His)
c.677G>A (p.Arg226His)
 gnomAD v4
2g.144404026G>ACA348714800ZEB2c.*546C>T (n.*546C>T)
c.-81C>T (n.-81C>T)
c.697C>T (p.Arg233Cys)
n.666C>T
c.361C>T (p.Arg121Cys)
c.*414C>T (n.*414C>T)
n.797C>T
c.-133-5176C>T (n.-133-5176C>T)
c.694C>T (p.Arg232Cys)
c.781C>T (p.Arg261Cys)
c.436C>T (p.Arg146Cys)
c.784C>T (p.Arg262Cys)
c.682C>T (p.Arg228Cys)
n.643C>T
c.625C>T (p.Arg209Cys)
c.688C>T (p.Arg230Cys)
c.676C>T (p.Arg226Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.144404026G>CCA348714801ZEB2c.*546C>G (n.*546C>G)
c.-81C>G (n.-81C>G)
c.697C>G (p.Arg233Gly)
n.666C>G
c.361C>G (p.Arg121Gly)
c.*414C>G (n.*414C>G)
n.797C>G
c.-133-5176C>G (n.-133-5176C>G)
c.694C>G (p.Arg232Gly)
c.781C>G (p.Arg261Gly)
c.436C>G (p.Arg146Gly)
c.784C>G (p.Arg262Gly)
c.682C>G (p.Arg228Gly)
n.643C>G
c.625C>G (p.Arg209Gly)
c.688C>G (p.Arg230Gly)
c.676C>G (p.Arg226Gly)
2g.144404026G=CA1294887205ZEB2c.*546C= (n.*546C=)
c.-81C= (n.-81C=)
c.697C= (p.Arg233=)
n.666C=
c.361C= (p.Arg121=)
c.*414C= (n.*414C=)
n.797C=
c.-133-5176C= (n.-133-5176C=)
c.694C= (p.Arg232=)
c.781C= (p.Arg261=)
c.436C= (p.Arg146=)
c.784C= (p.Arg262=)
c.682C= (p.Arg228=)
n.643C=
c.625C= (p.Arg209=)
c.688C= (p.Arg230=)
c.676C= (p.Arg226=)
2g.144404026G>TCA348714802ZEB2c.*546C>A (n.*546C>A)
c.-81C>A (n.-81C>A)
c.697C>A (p.Arg233Ser)
n.666C>A
c.361C>A (p.Arg121Ser)
c.*414C>A (n.*414C>A)
n.797C>A
c.-133-5176C>A (n.-133-5176C>A)
c.694C>A (p.Arg232Ser)
c.781C>A (p.Arg261Ser)
c.436C>A (p.Arg146Ser)
c.784C>A (p.Arg262Ser)
c.682C>A (p.Arg228Ser)
n.643C>A
c.625C>A (p.Arg209Ser)
c.688C>A (p.Arg230Ser)
c.676C>A (p.Arg226Ser)
2g.144404027G>ACA16610156ZEB2c.*545C>T (n.*545C>T)
c.-82C>T (n.-82C>T)
c.696C>T (p.Tyr232=)
n.665C>T
c.360C>T (p.Tyr120=)
c.*413C>T (n.*413C>T)
n.796C>T
c.-133-5177C>T (n.-133-5177C>T)
c.693C>T (p.Tyr231=)
c.780C>T (p.Tyr260=)
c.435C>T (p.Tyr145=)
c.783C>T (p.Tyr261=)
c.681C>T (p.Tyr227=)
n.642C>T
c.624C>T (p.Tyr208=)
c.687C>T (p.Tyr229=)
c.675C>T (p.Tyr225=)
 ClinVar dbSNP
2g.144404027G>CCA348714803ZEB2c.*545C>G (n.*545C>G)
c.-82C>G (n.-82C>G)
c.696C>G (p.Tyr232Ter)
n.665C>G
c.360C>G (p.Tyr120Ter)
c.*413C>G (n.*413C>G)
n.796C>G
c.-133-5177C>G (n.-133-5177C>G)
c.693C>G (p.Tyr231Ter)
c.780C>G (p.Tyr260Ter)
c.435C>G (p.Tyr145Ter)
c.783C>G (p.Tyr261Ter)
c.681C>G (p.Tyr227Ter)
n.642C>G
c.624C>G (p.Tyr208Ter)
c.687C>G (p.Tyr229Ter)
c.675C>G (p.Tyr225Ter)
 ClinVar
2g.144404027G=CA1294887206ZEB2c.*545C= (n.*545C=)
c.-82C= (n.-82C=)
c.696C= (p.Tyr232=)
n.665C=
c.360C= (p.Tyr120=)
c.*413C= (n.*413C=)
n.796C=
c.-133-5177C= (n.-133-5177C=)
c.693C= (p.Tyr231=)
c.780C= (p.Tyr260=)
c.435C= (p.Tyr145=)
c.783C= (p.Tyr261=)
c.681C= (p.Tyr227=)
n.642C=
c.624C= (p.Tyr208=)
c.687C= (p.Tyr229=)
c.675C= (p.Tyr225=)
2g.144404027G>TCA348714804ZEB2c.*545C>A (n.*545C>A)
c.-82C>A (n.-82C>A)
c.696C>A (p.Tyr232Ter)
n.665C>A
c.360C>A (p.Tyr120Ter)
c.*413C>A (n.*413C>A)
n.796C>A
c.-133-5177C>A (n.-133-5177C>A)
c.693C>A (p.Tyr231Ter)
c.780C>A (p.Tyr260Ter)
c.435C>A (p.Tyr145Ter)
c.783C>A (p.Tyr261Ter)
c.681C>A (p.Tyr227Ter)
n.642C>A
c.624C>A (p.Tyr208Ter)
c.687C>A (p.Tyr229Ter)
c.675C>A (p.Tyr225Ter)
 ClinVar dbSNP
2g.144404028T>ACA348714805ZEB2c.*544A>T (n.*544A>T)
c.-83A>T (n.-83A>T)
c.695A>T (p.Tyr232Phe)
n.664A>T
c.359A>T (p.Tyr120Phe)
c.*412A>T (n.*412A>T)
n.795A>T
c.-133-5178A>T (n.-133-5178A>T)
c.692A>T (p.Tyr231Phe)
c.779A>T (p.Tyr260Phe)
c.434A>T (p.Tyr145Phe)
c.782A>T (p.Tyr261Phe)
c.680A>T (p.Tyr227Phe)
n.641A>T
c.623A>T (p.Tyr208Phe)
c.686A>T (p.Tyr229Phe)
c.674A>T (p.Tyr225Phe)
2g.144404028T>CCA348714807ZEB2c.*544A>G (n.*544A>G)
c.-83A>G (n.-83A>G)
c.695A>G (p.Tyr232Cys)
n.664A>G
c.359A>G (p.Tyr120Cys)
c.*412A>G (n.*412A>G)
n.795A>G
c.-133-5178A>G (n.-133-5178A>G)
c.692A>G (p.Tyr231Cys)
c.779A>G (p.Tyr260Cys)
c.434A>G (p.Tyr145Cys)
c.782A>G (p.Tyr261Cys)
c.680A>G (p.Tyr227Cys)
n.641A>G
c.623A>G (p.Tyr208Cys)
c.686A>G (p.Tyr229Cys)
c.674A>G (p.Tyr225Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.144404028T>GCA348714806ZEB2c.*544A>C (n.*544A>C)
c.-83A>C (n.-83A>C)
c.695A>C (p.Tyr232Ser)
n.664A>C
c.359A>C (p.Tyr120Ser)
c.*412A>C (n.*412A>C)
n.795A>C
c.-133-5178A>C (n.-133-5178A>C)
c.692A>C (p.Tyr231Ser)
c.779A>C (p.Tyr260Ser)
c.434A>C (p.Tyr145Ser)
c.782A>C (p.Tyr261Ser)
c.680A>C (p.Tyr227Ser)
n.641A>C
c.623A>C (p.Tyr208Ser)
c.686A>C (p.Tyr229Ser)
c.674A>C (p.Tyr225Ser)
2g.144404028T=CA1294887207ZEB2c.*544A= (n.*544A=)
c.-83A= (n.-83A=)
c.695A= (p.Tyr232=)
n.664A=
c.359A= (p.Tyr120=)
c.*412A= (n.*412A=)
n.795A=
c.-133-5178A= (n.-133-5178A=)
c.692A= (p.Tyr231=)
c.779A= (p.Tyr260=)
c.434A= (p.Tyr145=)
c.782A= (p.Tyr261=)
c.680A= (p.Tyr227=)
n.641A=
c.623A= (p.Tyr208=)
c.686A= (p.Tyr229=)
c.674A= (p.Tyr225=)
2g.144404029A>CCA348714808ZEB2c.*543T>G (n.*543T>G)
c.-84T>G (n.-84T>G)
c.694T>G (p.Tyr232Asp)
n.663T>G
c.358T>G (p.Tyr120Asp)
c.*411T>G (n.*411T>G)
n.794T>G
c.-133-5179T>G (n.-133-5179T>G)
c.691T>G (p.Tyr231Asp)
c.778T>G (p.Tyr260Asp)
c.433T>G (p.Tyr145Asp)
c.781T>G (p.Tyr261Asp)
c.679T>G (p.Tyr227Asp)
n.640T>G
c.622T>G (p.Tyr208Asp)
c.685T>G (p.Tyr229Asp)
c.673T>G (p.Tyr225Asp)
2g.144404029A>GCA348714809ZEB2c.*543T>C (n.*543T>C)
c.-84T>C (n.-84T>C)
c.694T>C (p.Tyr232His)
n.663T>C
c.358T>C (p.Tyr120His)
c.*411T>C (n.*411T>C)
n.794T>C
c.-133-5179T>C (n.-133-5179T>C)
c.691T>C (p.Tyr231His)
c.778T>C (p.Tyr260His)
c.433T>C (p.Tyr145His)
c.781T>C (p.Tyr261His)
c.679T>C (p.Tyr227His)
n.640T>C
c.622T>C (p.Tyr208His)
c.685T>C (p.Tyr229His)
c.673T>C (p.Tyr225His)
2g.144404029A>TCA348714810ZEB2c.*543T>A (n.*543T>A)
c.-84T>A (n.-84T>A)
c.694T>A (p.Tyr232Asn)
n.663T>A
c.358T>A (p.Tyr120Asn)
c.*411T>A (n.*411T>A)
n.794T>A
c.-133-5179T>A (n.-133-5179T>A)
c.691T>A (p.Tyr231Asn)
c.778T>A (p.Tyr260Asn)
c.433T>A (p.Tyr145Asn)
c.781T>A (p.Tyr261Asn)
c.679T>A (p.Tyr227Asn)
n.640T>A
c.622T>A (p.Tyr208Asn)
c.685T>A (p.Tyr229Asn)
c.673T>A (p.Tyr225Asn)
2g.144404030C>ACA348714811ZEB2c.*542G>T (n.*542G>T)
c.-85G>T (n.-85G>T)
c.693G>T (p.Lys231Asn)
n.662G>T
c.357G>T (p.Lys119Asn)
c.*410G>T (n.*410G>T)
n.793G>T
c.-133-5180G>T (n.-133-5180G>T)
c.690G>T (p.Lys230Asn)
c.777G>T (p.Lys259Asn)
c.432G>T (p.Lys144Asn)
c.780G>T (p.Lys260Asn)
c.678G>T (p.Lys226Asn)
n.639G>T
c.621G>T (p.Lys207Asn)
c.684G>T (p.Lys228Asn)
c.672G>T (p.Lys224Asn)
2g.144404030C>GCA348714812ZEB2c.*542G>C (n.*542G>C)
c.-85G>C (n.-85G>C)
c.693G>C (p.Lys231Asn)
n.662G>C
c.357G>C (p.Lys119Asn)
c.*410G>C (n.*410G>C)
n.793G>C
c.-133-5180G>C (n.-133-5180G>C)
c.690G>C (p.Lys230Asn)
c.777G>C (p.Lys259Asn)
c.432G>C (p.Lys144Asn)
c.780G>C (p.Lys260Asn)
c.678G>C (p.Lys226Asn)
n.639G>C
c.621G>C (p.Lys207Asn)
c.684G>C (p.Lys228Asn)
c.672G>C (p.Lys224Asn)
2g.144404030C>TCA429218549ZEB2c.*542G>A (n.*542G>A)
c.-85G>A (n.-85G>A)
c.693G>A (p.Lys231=)
n.662G>A
c.357G>A (p.Lys119=)
c.*410G>A (n.*410G>A)
n.793G>A
c.-133-5180G>A (n.-133-5180G>A)
c.690G>A (p.Lys230=)
c.777G>A (p.Lys259=)
c.432G>A (p.Lys144=)
c.780G>A (p.Lys260=)
c.678G>A (p.Lys226=)
n.639G>A
c.621G>A (p.Lys207=)
c.684G>A (p.Lys228=)
c.672G>A (p.Lys224=)
2g.144404031T>ACA348714813ZEB2c.*541A>T (n.*541A>T)
c.-86A>T (n.-86A>T)
c.692A>T (p.Lys231Met)
n.661A>T
c.356A>T (p.Lys119Met)
c.*409A>T (n.*409A>T)
n.792A>T
c.-133-5181A>T (n.-133-5181A>T)
c.689A>T (p.Lys230Met)
c.776A>T (p.Lys259Met)
c.431A>T (p.Lys144Met)
c.779A>T (p.Lys260Met)
c.677A>T (p.Lys226Met)
n.638A>T
c.620A>T (p.Lys207Met)
c.683A>T (p.Lys228Met)
c.671A>T (p.Lys224Met)
2g.144404031T>CCA348714815ZEB2c.*541A>G (n.*541A>G)
c.-86A>G (n.-86A>G)
c.692A>G (p.Lys231Arg)
n.661A>G
c.356A>G (p.Lys119Arg)
c.*409A>G (n.*409A>G)
n.792A>G
c.-133-5181A>G (n.-133-5181A>G)
c.689A>G (p.Lys230Arg)
c.776A>G (p.Lys259Arg)
c.431A>G (p.Lys144Arg)
c.779A>G (p.Lys260Arg)
c.677A>G (p.Lys226Arg)
n.638A>G
c.620A>G (p.Lys207Arg)
c.683A>G (p.Lys228Arg)
c.671A>G (p.Lys224Arg)
2g.144404031T>GCA348714814ZEB2c.*541A>C (n.*541A>C)
c.-86A>C (n.-86A>C)
c.692A>C (p.Lys231Thr)
n.661A>C
c.356A>C (p.Lys119Thr)
c.*409A>C (n.*409A>C)
n.792A>C
c.-133-5181A>C (n.-133-5181A>C)
c.689A>C (p.Lys230Thr)
c.776A>C (p.Lys259Thr)
c.431A>C (p.Lys144Thr)
c.779A>C (p.Lys260Thr)
c.677A>C (p.Lys226Thr)
n.638A>C
c.620A>C (p.Lys207Thr)
c.683A>C (p.Lys228Thr)
c.671A>C (p.Lys224Thr)
2g.144404032dupCA2573051662ZEB2c.*541dup (n.*541dup)
c.-86dup (n.-86dup)
c.692dup (p.Tyr232ValfsTer7)
n.661dup
c.356dup (p.Tyr120ValfsTer7)
c.*409dup (n.*409dup)
n.792dup
c.-133-5181dup (n.-133-5181dup)
c.689dup (p.Tyr231ValfsTer7)
c.776dup (p.Tyr260ValfsTer7)
c.431dup (p.Tyr145ValfsTer7)
c.779dup (p.Tyr261ValfsTer7)
c.677dup (p.Tyr227ValfsTer7)
n.638dup
c.620dup (p.Tyr208ValfsTer7)
c.683dup (p.Tyr229ValfsTer7)
c.671dup (p.Tyr225ValfsTer7)
 dbSNP
2g.144404032T>ACA348714816ZEB2c.*540A>T (n.*540A>T)
c.-87A>T (n.-87A>T)
c.691A>T (p.Lys231Ter)
n.660A>T
c.355A>T (p.Lys119Ter)
c.*408A>T (n.*408A>T)
n.791A>T
c.-133-5182A>T (n.-133-5182A>T)
c.688A>T (p.Lys230Ter)
c.775A>T (p.Lys259Ter)
c.430A>T (p.Lys144Ter)
c.778A>T (p.Lys260Ter)
c.676A>T (p.Lys226Ter)
n.637A>T
c.619A>T (p.Lys207Ter)
c.682A>T (p.Lys228Ter)
c.670A>T (p.Lys224Ter)
2g.144404032T>CCA348714817ZEB2c.*540A>G (n.*540A>G)
c.-87A>G (n.-87A>G)
c.691A>G (p.Lys231Glu)
n.660A>G
c.355A>G (p.Lys119Glu)
c.*408A>G (n.*408A>G)
n.791A>G
c.-133-5182A>G (n.-133-5182A>G)
c.688A>G (p.Lys230Glu)
c.775A>G (p.Lys259Glu)
c.430A>G (p.Lys144Glu)
c.778A>G (p.Lys260Glu)
c.676A>G (p.Lys226Glu)
n.637A>G
c.619A>G (p.Lys207Glu)
c.682A>G (p.Lys228Glu)
c.670A>G (p.Lys224Glu)
2g.144404032T>GCA348714818ZEB2c.*540A>C (n.*540A>C)
c.-87A>C (n.-87A>C)
c.691A>C (p.Lys231Gln)
n.660A>C
c.355A>C (p.Lys119Gln)
c.*408A>C (n.*408A>C)
n.791A>C
c.-133-5182A>C (n.-133-5182A>C)
c.688A>C (p.Lys230Gln)
c.775A>C (p.Lys259Gln)
c.430A>C (p.Lys144Gln)
c.778A>C (p.Lys260Gln)
c.676A>C (p.Lys226Gln)
n.637A>C
c.619A>C (p.Lys207Gln)
c.682A>C (p.Lys228Gln)
c.670A>C (p.Lys224Gln)
2g.144404033G>ACA429218556ZEB2c.*539C>T (n.*539C>T)
c.-88C>T (n.-88C>T)
c.690C>T (p.Ile230=)
n.659C>T
c.354C>T (p.Ile118=)
c.*407C>T (n.*407C>T)
n.790C>T
c.-133-5183C>T (n.-133-5183C>T)
c.687C>T (p.Ile229=)
c.774C>T (p.Ile258=)
c.429C>T (p.Ile143=)
c.777C>T (p.Ile259=)
c.675C>T (p.Ile225=)
n.636C>T
c.618C>T (p.Ile206=)
c.681C>T (p.Ile227=)
c.669C>T (p.Ile223=)
 ClinVar dbSNP gnomAD v4
2g.144404033G>CCA348714819ZEB2c.*539C>G (n.*539C>G)
c.-88C>G (n.-88C>G)
c.690C>G (p.Ile230Met)
n.659C>G
c.354C>G (p.Ile118Met)
c.*407C>G (n.*407C>G)
n.790C>G
c.-133-5183C>G (n.-133-5183C>G)
c.687C>G (p.Ile229Met)
c.774C>G (p.Ile258Met)
c.429C>G (p.Ile143Met)
c.777C>G (p.Ile259Met)
c.675C>G (p.Ile225Met)
n.636C>G
c.618C>G (p.Ile206Met)
c.681C>G (p.Ile227Met)
c.669C>G (p.Ile223Met)
2g.144404033G=CA1294887208ZEB2c.*539C= (n.*539C=)
c.-88C= (n.-88C=)
c.690C= (p.Ile230=)
n.659C=
c.354C= (p.Ile118=)
c.*407C= (n.*407C=)
n.790C=
c.-133-5183C= (n.-133-5183C=)
c.687C= (p.Ile229=)
c.774C= (p.Ile258=)
c.429C= (p.Ile143=)
c.777C= (p.Ile259=)
c.675C= (p.Ile225=)
n.636C=
c.618C= (p.Ile206=)
c.681C= (p.Ile227=)
c.669C= (p.Ile223=)
2g.144404033G>TCA429218557ZEB2c.*539C>A (n.*539C>A)
c.-88C>A (n.-88C>A)
c.690C>A (p.Ile230=)
n.659C>A
c.354C>A (p.Ile118=)
c.*407C>A (n.*407C>A)
n.790C>A
c.-133-5183C>A (n.-133-5183C>A)
c.687C>A (p.Ile229=)
c.774C>A (p.Ile258=)
c.429C>A (p.Ile143=)
c.777C>A (p.Ile259=)
c.675C>A (p.Ile225=)
n.636C>A
c.618C>A (p.Ile206=)
c.681C>A (p.Ile227=)
c.669C>A (p.Ile223=)
2g.144404033dupCA2586965038ZEB2c.*539dup (n.*539dup)
c.-88dup (n.-88dup)
c.690dup (p.Lys231GlnfsTer8)
n.659dup
c.354dup (p.Lys119GlnfsTer8)
c.*407dup (n.*407dup)
n.790dup
c.-133-5183dup (n.-133-5183dup)
c.687dup (p.Lys230GlnfsTer8)
c.774dup (p.Lys259GlnfsTer8)
c.429dup (p.Lys144GlnfsTer8)
c.777dup (p.Lys260GlnfsTer8)
c.675dup (p.Lys226GlnfsTer8)
n.636dup
c.618dup (p.Lys207GlnfsTer8)
c.681dup (p.Lys228GlnfsTer8)
c.669dup (p.Lys224GlnfsTer8)
2g.144404034A>CCA348714820ZEB2c.*538T>G (n.*538T>G)
c.-89T>G (n.-89T>G)
c.689T>G (p.Ile230Ser)
n.658T>G
c.353T>G (p.Ile118Ser)
c.*406T>G (n.*406T>G)
n.789T>G
c.-133-5184T>G (n.-133-5184T>G)
c.686T>G (p.Ile229Ser)
c.773T>G (p.Ile258Ser)
c.428T>G (p.Ile143Ser)
c.776T>G (p.Ile259Ser)
c.674T>G (p.Ile225Ser)
n.635T>G
c.617T>G (p.Ile206Ser)
c.680T>G (p.Ile227Ser)
c.668T>G (p.Ile223Ser)
2g.144404034A>GCA348714821ZEB2c.*538T>C (n.*538T>C)
c.-89T>C (n.-89T>C)
c.689T>C (p.Ile230Thr)
n.658T>C
c.353T>C (p.Ile118Thr)
c.*406T>C (n.*406T>C)
n.789T>C
c.-133-5184T>C (n.-133-5184T>C)
c.686T>C (p.Ile229Thr)
c.773T>C (p.Ile258Thr)
c.428T>C (p.Ile143Thr)
c.776T>C (p.Ile259Thr)
c.674T>C (p.Ile225Thr)
n.635T>C
c.617T>C (p.Ile206Thr)
c.680T>C (p.Ile227Thr)
c.668T>C (p.Ile223Thr)
2g.144404034A>TCA348714822ZEB2c.*538T>A (n.*538T>A)
c.-89T>A (n.-89T>A)
c.689T>A (p.Ile230Asn)
n.658T>A
c.353T>A (p.Ile118Asn)
c.*406T>A (n.*406T>A)
n.789T>A
c.-133-5184T>A (n.-133-5184T>A)
c.686T>A (p.Ile229Asn)
c.773T>A (p.Ile258Asn)
c.428T>A (p.Ile143Asn)
c.776T>A (p.Ile259Asn)
c.674T>A (p.Ile225Asn)
n.635T>A
c.617T>A (p.Ile206Asn)
c.680T>A (p.Ile227Asn)
c.668T>A (p.Ile223Asn)
2g.144404035T>ACA348714823ZEB2c.*537A>T (n.*537A>T)
c.-90A>T (n.-90A>T)
c.688A>T (p.Ile230Phe)
n.657A>T
c.352A>T (p.Ile118Phe)
c.*405A>T (n.*405A>T)
n.788A>T
c.-133-5185A>T (n.-133-5185A>T)
c.685A>T (p.Ile229Phe)
c.772A>T (p.Ile258Phe)
c.427A>T (p.Ile143Phe)
c.775A>T (p.Ile259Phe)
c.673A>T (p.Ile225Phe)
n.634A>T
c.616A>T (p.Ile206Phe)
c.679A>T (p.Ile227Phe)
c.667A>T (p.Ile223Phe)
2g.144404035T>CCA348714824ZEB2c.*537A>G (n.*537A>G)
c.-90A>G (n.-90A>G)
c.688A>G (p.Ile230Val)
n.657A>G
c.352A>G (p.Ile118Val)
c.*405A>G (n.*405A>G)
n.788A>G
c.-133-5185A>G (n.-133-5185A>G)
c.685A>G (p.Ile229Val)
c.772A>G (p.Ile258Val)
c.427A>G (p.Ile143Val)
c.775A>G (p.Ile259Val)
c.673A>G (p.Ile225Val)
n.634A>G
c.616A>G (p.Ile206Val)
c.679A>G (p.Ile227Val)
c.667A>G (p.Ile223Val)
 ClinVar
2g.144404035T>GCA348714825ZEB2c.*537A>C (n.*537A>C)
c.-90A>C (n.-90A>C)
c.688A>C (p.Ile230Leu)
n.657A>C
c.352A>C (p.Ile118Leu)
c.*405A>C (n.*405A>C)
n.788A>C
c.-133-5185A>C (n.-133-5185A>C)
c.685A>C (p.Ile229Leu)
c.772A>C (p.Ile258Leu)
c.427A>C (p.Ile143Leu)
c.775A>C (p.Ile259Leu)
c.673A>C (p.Ile225Leu)
n.634A>C
c.616A>C (p.Ile206Leu)
c.679A>C (p.Ile227Leu)
c.667A>C (p.Ile223Leu)
2g.144404036G>ACA429218562ZEB2c.*536C>T (n.*536C>T)
c.-91C>T (n.-91C>T)
c.687C>T (p.His229=)
n.656C>T
c.351C>T (p.His117=)
c.*404C>T (n.*404C>T)
n.787C>T
c.-133-5186C>T (n.-133-5186C>T)
c.684C>T (p.His228=)
c.771C>T (p.His257=)
c.426C>T (p.His142=)
c.774C>T (p.His258=)
c.672C>T (p.His224=)
n.633C>T
c.615C>T (p.His205=)
c.678C>T (p.His226=)
c.666C>T (p.His222=)
2g.144404036G>CCA348714826ZEB2c.*536C>G (n.*536C>G)
c.-91C>G (n.-91C>G)
c.687C>G (p.His229Gln)
n.656C>G
c.351C>G (p.His117Gln)
c.*404C>G (n.*404C>G)
n.787C>G
c.-133-5186C>G (n.-133-5186C>G)
c.684C>G (p.His228Gln)
c.771C>G (p.His257Gln)
c.426C>G (p.His142Gln)
c.774C>G (p.His258Gln)
c.672C>G (p.His224Gln)
n.633C>G
c.615C>G (p.His205Gln)
c.678C>G (p.His226Gln)
c.666C>G (p.His222Gln)
2g.144404036G>TCA348714827ZEB2c.*536C>A (n.*536C>A)
c.-91C>A (n.-91C>A)
c.687C>A (p.His229Gln)
n.656C>A
c.351C>A (p.His117Gln)
c.*404C>A (n.*404C>A)
n.787C>A
c.-133-5186C>A (n.-133-5186C>A)
c.684C>A (p.His228Gln)
c.771C>A (p.His257Gln)
c.426C>A (p.His142Gln)
c.774C>A (p.His258Gln)
c.672C>A (p.His224Gln)
n.633C>A
c.615C>A (p.His205Gln)
c.678C>A (p.His226Gln)
c.666C>A (p.His222Gln)
2g.144404037T>ACA348714828ZEB2c.*535A>T (n.*535A>T)
c.-92A>T (n.-92A>T)
c.686A>T (p.His229Leu)
n.655A>T
c.350A>T (p.His117Leu)
c.*403A>T (n.*403A>T)
n.786A>T
c.-133-5187A>T (n.-133-5187A>T)
c.683A>T (p.His228Leu)
c.770A>T (p.His257Leu)
c.425A>T (p.His142Leu)
c.773A>T (p.His258Leu)
c.671A>T (p.His224Leu)
n.632A>T
c.614A>T (p.His205Leu)
c.677A>T (p.His226Leu)
c.665A>T (p.His222Leu)
2g.144404037T>CCA348714830ZEB2c.*535A>G (n.*535A>G)
c.-92A>G (n.-92A>G)
c.686A>G (p.His229Arg)
n.655A>G
c.350A>G (p.His117Arg)
c.*403A>G (n.*403A>G)
n.786A>G
c.-133-5187A>G (n.-133-5187A>G)
c.683A>G (p.His228Arg)
c.770A>G (p.His257Arg)
c.425A>G (p.His142Arg)
c.773A>G (p.His258Arg)
c.671A>G (p.His224Arg)
n.632A>G
c.614A>G (p.His205Arg)
c.677A>G (p.His226Arg)
c.665A>G (p.His222Arg)
2g.144404037T>GCA348714829ZEB2c.*535A>C (n.*535A>C)
c.-92A>C (n.-92A>C)
c.686A>C (p.His229Pro)
n.655A>C
c.350A>C (p.His117Pro)
c.*403A>C (n.*403A>C)
n.786A>C
c.-133-5187A>C (n.-133-5187A>C)
c.683A>C (p.His228Pro)
c.770A>C (p.His257Pro)
c.425A>C (p.His142Pro)
c.773A>C (p.His258Pro)
c.671A>C (p.His224Pro)
n.632A>C
c.614A>C (p.His205Pro)
c.677A>C (p.His226Pro)
c.665A>C (p.His222Pro)
2g.144404038G>ACA348714831ZEB2c.*534C>T (n.*534C>T)
c.-93C>T (n.-93C>T)
c.685C>T (p.His229Tyr)
n.654C>T
c.349C>T (p.His117Tyr)
c.*402C>T (n.*402C>T)
n.785C>T
c.-133-5188C>T (n.-133-5188C>T)
c.682C>T (p.His228Tyr)
c.769C>T (p.His257Tyr)
c.424C>T (p.His142Tyr)
c.772C>T (p.His258Tyr)
c.670C>T (p.His224Tyr)
n.631C>T
c.613C>T (p.His205Tyr)
c.676C>T (p.His226Tyr)
c.664C>T (p.His222Tyr)
 ClinVar dbSNP
2g.144404038G>CCA348714832ZEB2c.*534C>G (n.*534C>G)
c.-93C>G (n.-93C>G)
c.685C>G (p.His229Asp)
n.654C>G
c.349C>G (p.His117Asp)
c.*402C>G (n.*402C>G)
n.785C>G
c.-133-5188C>G (n.-133-5188C>G)
c.682C>G (p.His228Asp)
c.769C>G (p.His257Asp)
c.424C>G (p.His142Asp)
c.772C>G (p.His258Asp)
c.670C>G (p.His224Asp)
n.631C>G
c.613C>G (p.His205Asp)
c.676C>G (p.His226Asp)
c.664C>G (p.His222Asp)
2g.144404038G>TCA348714833ZEB2c.*534C>A (n.*534C>A)
c.-93C>A (n.-93C>A)
c.685C>A (p.His229Asn)
n.654C>A
c.349C>A (p.His117Asn)
c.*402C>A (n.*402C>A)
n.785C>A
c.-133-5188C>A (n.-133-5188C>A)
c.682C>A (p.His228Asn)
c.769C>A (p.His257Asn)
c.424C>A (p.His142Asn)
c.772C>A (p.His258Asn)
c.670C>A (p.His224Asn)
n.631C>A
c.613C>A (p.His205Asn)
c.676C>A (p.His226Asn)
c.664C>A (p.His222Asn)
2g.144404039C>ACA348714834ZEB2c.*533G>T (n.*533G>T)
c.-94G>T (n.-94G>T)
c.684G>T (p.Glu228Asp)
n.653G>T
c.348G>T (p.Glu116Asp)
c.*401G>T (n.*401G>T)
n.784G>T
c.-133-5189G>T (n.-133-5189G>T)
c.681G>T (p.Glu227Asp)
c.768G>T (p.Glu256Asp)
c.423G>T (p.Glu141Asp)
c.771G>T (p.Glu257Asp)
c.669G>T (p.Glu223Asp)
n.630G>T
c.612G>T (p.Glu204Asp)
c.675G>T (p.Glu225Asp)
c.663G>T (p.Glu221Asp)
 dbSNP gnomAD v4
2g.144404039C=CA1294887209ZEB2c.*533G= (n.*533G=)
c.-94G= (n.-94G=)
c.684G= (p.Glu228=)
n.653G=
c.348G= (p.Glu116=)
c.*401G= (n.*401G=)
n.784G=
c.-133-5189G= (n.-133-5189G=)
c.681G= (p.Glu227=)
c.768G= (p.Glu256=)
c.423G= (p.Glu141=)
c.771G= (p.Glu257=)
c.669G= (p.Glu223=)
n.630G=
c.612G= (p.Glu204=)
c.675G= (p.Glu225=)
c.663G= (p.Glu221=)
2g.144404039C>GCA348714835ZEB2c.*533G>C (n.*533G>C)
c.-94G>C (n.-94G>C)
c.684G>C (p.Glu228Asp)
n.653G>C
c.348G>C (p.Glu116Asp)
c.*401G>C (n.*401G>C)
n.784G>C
c.-133-5189G>C (n.-133-5189G>C)
c.681G>C (p.Glu227Asp)
c.768G>C (p.Glu256Asp)
c.423G>C (p.Glu141Asp)
c.771G>C (p.Glu257Asp)
c.669G>C (p.Glu223Asp)
n.630G>C
c.612G>C (p.Glu204Asp)
c.675G>C (p.Glu225Asp)
c.663G>C (p.Glu221Asp)
2g.144404039C>TCA1898428ZEB2c.*533G>A (n.*533G>A)
c.-94G>A (n.-94G>A)
c.684G>A (p.Glu228=)
n.653G>A
c.348G>A (p.Glu116=)
c.*401G>A (n.*401G>A)
n.784G>A
c.-133-5189G>A (n.-133-5189G>A)
c.681G>A (p.Glu227=)
c.768G>A (p.Glu256=)
c.423G>A (p.Glu141=)
c.771G>A (p.Glu257=)
c.669G>A (p.Glu223=)
n.630G>A
c.612G>A (p.Glu204=)
c.675G>A (p.Glu225=)
c.663G>A (p.Glu221=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.144404040T>ACA348714838ZEB2c.*532A>T (n.*532A>T)
c.-95A>T (n.-95A>T)
c.683A>T (p.Glu228Val)
n.652A>T
c.347A>T (p.Glu116Val)
c.*400A>T (n.*400A>T)
n.783A>T
c.-133-5190A>T (n.-133-5190A>T)
c.680A>T (p.Glu227Val)
c.767A>T (p.Glu256Val)
c.422A>T (p.Glu141Val)
c.770A>T (p.Glu257Val)
c.668A>T (p.Glu223Val)
n.629A>T
c.611A>T (p.Glu204Val)
c.674A>T (p.Glu225Val)
c.662A>T (p.Glu221Val)
2g.144404040T>CCA348714836ZEB2c.*532A>G (n.*532A>G)
c.-95A>G (n.-95A>G)
c.683A>G (p.Glu228Gly)
n.652A>G
c.347A>G (p.Glu116Gly)
c.*400A>G (n.*400A>G)
n.783A>G
c.-133-5190A>G (n.-133-5190A>G)
c.680A>G (p.Glu227Gly)
c.767A>G (p.Glu256Gly)
c.422A>G (p.Glu141Gly)
c.770A>G (p.Glu257Gly)
c.668A>G (p.Glu223Gly)
n.629A>G
c.611A>G (p.Glu204Gly)
c.674A>G (p.Glu225Gly)
c.662A>G (p.Glu221Gly)
2g.144404040T>GCA348714837ZEB2c.*532A>C (n.*532A>C)
c.-95A>C (n.-95A>C)
c.683A>C (p.Glu228Ala)
n.652A>C
c.347A>C (p.Glu116Ala)
c.*400A>C (n.*400A>C)
n.783A>C
c.-133-5190A>C (n.-133-5190A>C)
c.680A>C (p.Glu227Ala)
c.767A>C (p.Glu256Ala)
c.422A>C (p.Glu141Ala)
c.770A>C (p.Glu257Ala)
c.668A>C (p.Glu223Ala)
n.629A>C
c.611A>C (p.Glu204Ala)
c.674A>C (p.Glu225Ala)
c.662A>C (p.Glu221Ala)
2g.144404041C>ACA348714839ZEB2c.*531G>T (n.*531G>T)
c.-96G>T (n.-96G>T)
c.682G>T (p.Glu228Ter)
n.651G>T
c.346G>T (p.Glu116Ter)
c.*399G>T (n.*399G>T)
n.782G>T
c.-133-5191G>T (n.-133-5191G>T)
c.679G>T (p.Glu227Ter)
c.766G>T (p.Glu256Ter)
c.421G>T (p.Glu141Ter)
c.769G>T (p.Glu257Ter)
c.667G>T (p.Glu223Ter)
n.628G>T
c.610G>T (p.Glu204Ter)
c.673G>T (p.Glu225Ter)
c.661G>T (p.Glu221Ter)
2g.144404041C>GCA348714840ZEB2c.*531G>C (n.*531G>C)
c.-96G>C (n.-96G>C)
c.682G>C (p.Glu228Gln)
n.651G>C
c.346G>C (p.Glu116Gln)
c.*399G>C (n.*399G>C)
n.782G>C
c.-133-5191G>C (n.-133-5191G>C)
c.679G>C (p.Glu227Gln)
c.766G>C (p.Glu256Gln)
c.421G>C (p.Glu141Gln)
c.769G>C (p.Glu257Gln)
c.667G>C (p.Glu223Gln)
n.628G>C
c.610G>C (p.Glu204Gln)
c.673G>C (p.Glu225Gln)
c.661G>C (p.Glu221Gln)
2g.144404041C>TCA348714841ZEB2c.*531G>A (n.*531G>A)
c.-96G>A (n.-96G>A)
c.682G>A (p.Glu228Lys)
n.651G>A
c.346G>A (p.Glu116Lys)
c.*399G>A (n.*399G>A)
n.782G>A
c.-133-5191G>A (n.-133-5191G>A)
c.679G>A (p.Glu227Lys)
c.766G>A (p.Glu256Lys)
c.421G>A (p.Glu141Lys)
c.769G>A (p.Glu257Lys)
c.667G>A (p.Glu223Lys)
n.628G>A
c.610G>A (p.Glu204Lys)
c.673G>A (p.Glu225Lys)
c.661G>A (p.Glu221Lys)
2g.144404042C>ACA348714842ZEB2c.*530G>T (n.*530G>T)
c.-97G>T (n.-97G>T)
c.681G>T (p.Lys227Asn)
n.650G>T
c.345G>T (p.Lys115Asn)
c.*398G>T (n.*398G>T)
n.781G>T
c.-133-5192G>T (n.-133-5192G>T)
c.678G>T (p.Lys226Asn)
c.765G>T (p.Lys255Asn)
c.420G>T (p.Lys140Asn)
c.768G>T (p.Lys256Asn)
c.666G>T (p.Lys222Asn)
n.627G>T
c.609G>T (p.Lys203Asn)
c.672G>T (p.Lys224Asn)
c.660G>T (p.Lys220Asn)
2g.144404042C>GCA348714843ZEB2c.*530G>C (n.*530G>C)
c.-97G>C (n.-97G>C)
c.681G>C (p.Lys227Asn)
n.650G>C
c.345G>C (p.Lys115Asn)
c.*398G>C (n.*398G>C)
n.781G>C
c.-133-5192G>C (n.-133-5192G>C)
c.678G>C (p.Lys226Asn)
c.765G>C (p.Lys255Asn)
c.420G>C (p.Lys140Asn)
c.768G>C (p.Lys256Asn)
c.666G>C (p.Lys222Asn)
n.627G>C
c.609G>C (p.Lys203Asn)
c.672G>C (p.Lys224Asn)
c.660G>C (p.Lys220Asn)
2g.144404042C>TCA429218568ZEB2c.*530G>A (n.*530G>A)
c.-97G>A (n.-97G>A)
c.681G>A (p.Lys227=)
n.650G>A
c.345G>A (p.Lys115=)
c.*398G>A (n.*398G>A)
n.781G>A
c.-133-5192G>A (n.-133-5192G>A)
c.678G>A (p.Lys226=)
c.765G>A (p.Lys255=)
c.420G>A (p.Lys140=)
c.768G>A (p.Lys256=)
c.666G>A (p.Lys222=)
n.627G>A
c.609G>A (p.Lys203=)
c.672G>A (p.Lys224=)
c.660G>A (p.Lys220=)
 gnomAD v4 COSMIC
2g.144404043T>ACA348714844ZEB2c.*529A>T (n.*529A>T)
c.-98A>T (n.-98A>T)
c.680A>T (p.Lys227Met)
n.649A>T
c.344A>T (p.Lys115Met)
c.*397A>T (n.*397A>T)
n.780A>T
c.-133-5193A>T (n.-133-5193A>T)
c.677A>T (p.Lys226Met)
c.764A>T (p.Lys255Met)
c.419A>T (p.Lys140Met)
c.767A>T (p.Lys256Met)
c.665A>T (p.Lys222Met)
n.626A>T
c.608A>T (p.Lys203Met)
c.671A>T (p.Lys224Met)
c.659A>T (p.Lys220Met)
2g.144404043T>CCA348714846ZEB2c.*529A>G (n.*529A>G)
c.-98A>G (n.-98A>G)
c.680A>G (p.Lys227Arg)
n.649A>G
c.344A>G (p.Lys115Arg)
c.*397A>G (n.*397A>G)
n.780A>G
c.-133-5193A>G (n.-133-5193A>G)
c.677A>G (p.Lys226Arg)
c.764A>G (p.Lys255Arg)
c.419A>G (p.Lys140Arg)
c.767A>G (p.Lys256Arg)
c.665A>G (p.Lys222Arg)
n.626A>G
c.608A>G (p.Lys203Arg)
c.671A>G (p.Lys224Arg)
c.659A>G (p.Lys220Arg)
2g.144404043T>GCA348714845ZEB2c.*529A>C (n.*529A>C)
c.-98A>C (n.-98A>C)
c.680A>C (p.Lys227Thr)
n.649A>C
c.344A>C (p.Lys115Thr)
c.*397A>C (n.*397A>C)
n.780A>C
c.-133-5193A>C (n.-133-5193A>C)
c.677A>C (p.Lys226Thr)
c.764A>C (p.Lys255Thr)
c.419A>C (p.Lys140Thr)
c.767A>C (p.Lys256Thr)
c.665A>C (p.Lys222Thr)
n.626A>C
c.608A>C (p.Lys203Thr)
c.671A>C (p.Lys224Thr)
c.659A>C (p.Lys220Thr)
2g.144404044T>ACA348714847ZEB2c.*528A>T (n.*528A>T)
c.-99A>T (n.-99A>T)
c.679A>T (p.Lys227Ter)
n.648A>T
c.343A>T (p.Lys115Ter)
c.*396A>T (n.*396A>T)
n.779A>T
c.-133-5194A>T (n.-133-5194A>T)
c.676A>T (p.Lys226Ter)
c.763A>T (p.Lys255Ter)
c.418A>T (p.Lys140Ter)
c.766A>T (p.Lys256Ter)
c.664A>T (p.Lys222Ter)
n.625A>T
c.607A>T (p.Lys203Ter)
c.670A>T (p.Lys224Ter)
c.658A>T (p.Lys220Ter)
2g.144404044T>CCA348714848ZEB2c.*528A>G (n.*528A>G)
c.-99A>G (n.-99A>G)
c.679A>G (p.Lys227Glu)
n.648A>G
c.343A>G (p.Lys115Glu)
c.*396A>G (n.*396A>G)
n.779A>G
c.-133-5194A>G (n.-133-5194A>G)
c.676A>G (p.Lys226Glu)
c.763A>G (p.Lys255Glu)
c.418A>G (p.Lys140Glu)
c.766A>G (p.Lys256Glu)
c.664A>G (p.Lys222Glu)
n.625A>G
c.607A>G (p.Lys203Glu)
c.670A>G (p.Lys224Glu)
c.658A>G (p.Lys220Glu)
2g.144404044T>GCA348714849ZEB2c.*528A>C (n.*528A>C)
c.-99A>C (n.-99A>C)
c.679A>C (p.Lys227Gln)
n.648A>C
c.343A>C (p.Lys115Gln)
c.*396A>C (n.*396A>C)
n.779A>C
c.-133-5194A>C (n.-133-5194A>C)
c.676A>C (p.Lys226Gln)
c.763A>C (p.Lys255Gln)
c.418A>C (p.Lys140Gln)
c.766A>C (p.Lys256Gln)
c.664A>C (p.Lys222Gln)
n.625A>C
c.607A>C (p.Lys203Gln)
c.670A>C (p.Lys224Gln)
c.658A>C (p.Lys220Gln)
2g.144404045C>ACA429218573ZEB2c.*527G>T (n.*527G>T)
c.-100G>T (n.-100G>T)
c.678G>T (p.Leu226=)
n.647G>T
c.342G>T (p.Leu114=)
c.*395G>T (n.*395G>T)
n.778G>T
c.-133-5195G>T (n.-133-5195G>T)
c.675G>T (p.Leu225=)
c.762G>T (p.Leu254=)
c.417G>T (p.Leu139=)
c.765G>T (p.Leu255=)
c.663G>T (p.Leu221=)
n.624G>T
c.606G>T (p.Leu202=)
c.669G>T (p.Leu223=)
c.657G>T (p.Leu219=)
2g.144404045C>GCA429218574ZEB2c.*527G>C (n.*527G>C)
c.-100G>C (n.-100G>C)
c.678G>C (p.Leu226=)
n.647G>C
c.342G>C (p.Leu114=)
c.*395G>C (n.*395G>C)
n.778G>C
c.-133-5195G>C (n.-133-5195G>C)
c.675G>C (p.Leu225=)
c.762G>C (p.Leu254=)
c.417G>C (p.Leu139=)
c.765G>C (p.Leu255=)
c.663G>C (p.Leu221=)
n.624G>C
c.606G>C (p.Leu202=)
c.669G>C (p.Leu223=)
c.657G>C (p.Leu219=)
 ClinVar dbSNP gnomAD v4
2g.144404045C>TCA429218575ZEB2c.*527G>A (n.*527G>A)
c.-100G>A (n.-100G>A)
c.678G>A (p.Leu226=)
n.647G>A
c.342G>A (p.Leu114=)
c.*395G>A (n.*395G>A)
n.778G>A
c.-133-5195G>A (n.-133-5195G>A)
c.675G>A (p.Leu225=)
c.762G>A (p.Leu254=)
c.417G>A (p.Leu139=)
c.765G>A (p.Leu255=)
c.663G>A (p.Leu221=)
n.624G>A
c.606G>A (p.Leu202=)
c.669G>A (p.Leu223=)
c.657G>A (p.Leu219=)
 ClinVar
2g.144404046A>CCA348714850ZEB2c.*526T>G (n.*526T>G)
c.-101T>G (n.-101T>G)
c.677T>G (p.Leu226Arg)
n.646T>G
c.341T>G (p.Leu114Arg)
c.*394T>G (n.*394T>G)
n.777T>G
c.-133-5196T>G (n.-133-5196T>G)
c.674T>G (p.Leu225Arg)
c.761T>G (p.Leu254Arg)
c.416T>G (p.Leu139Arg)
c.764T>G (p.Leu255Arg)
c.662T>G (p.Leu221Arg)
n.623T>G
c.605T>G (p.Leu202Arg)
c.668T>G (p.Leu223Arg)
c.656T>G (p.Leu219Arg)
2g.144404046A>GCA348714851ZEB2c.*526T>C (n.*526T>C)
c.-101T>C (n.-101T>C)
c.677T>C (p.Leu226Pro)
n.646T>C
c.341T>C (p.Leu114Pro)
c.*394T>C (n.*394T>C)
n.777T>C
c.-133-5196T>C (n.-133-5196T>C)
c.674T>C (p.Leu225Pro)
c.761T>C (p.Leu254Pro)
c.416T>C (p.Leu139Pro)
c.764T>C (p.Leu255Pro)
c.662T>C (p.Leu221Pro)
n.623T>C
c.605T>C (p.Leu202Pro)
c.668T>C (p.Leu223Pro)
c.656T>C (p.Leu219Pro)
 COSMIC
2g.144404046A>TCA348714852ZEB2c.*526T>A (n.*526T>A)
c.-101T>A (n.-101T>A)
c.677T>A (p.Leu226Gln)
n.646T>A
c.341T>A (p.Leu114Gln)
c.*394T>A (n.*394T>A)
n.777T>A
c.-133-5196T>A (n.-133-5196T>A)
c.674T>A (p.Leu225Gln)
c.761T>A (p.Leu254Gln)
c.416T>A (p.Leu139Gln)
c.764T>A (p.Leu255Gln)
c.662T>A (p.Leu221Gln)
n.623T>A
c.605T>A (p.Leu202Gln)
c.668T>A (p.Leu223Gln)
c.656T>A (p.Leu219Gln)
2g.144404047G>ACA429218577ZEB2c.*525C>T (n.*525C>T)
c.-102C>T (n.-102C>T)
c.676C>T (p.Leu226=)
n.645C>T
c.340C>T (p.Leu114=)
c.*393C>T (n.*393C>T)
n.776C>T
c.-133-5197C>T (n.-133-5197C>T)
c.673C>T (p.Leu225=)
c.760C>T (p.Leu254=)
c.415C>T (p.Leu139=)
c.763C>T (p.Leu255=)
c.661C>T (p.Leu221=)
n.622C>T
c.604C>T (p.Leu202=)
c.667C>T (p.Leu223=)
c.655C>T (p.Leu219=)
 dbSNP gnomAD v2 gnomAD v4
2g.144404047G>CCA348714853ZEB2c.*525C>G (n.*525C>G)
c.-102C>G (n.-102C>G)
c.676C>G (p.Leu226Val)
n.645C>G
c.340C>G (p.Leu114Val)
c.*393C>G (n.*393C>G)
n.776C>G
c.-133-5197C>G (n.-133-5197C>G)
c.673C>G (p.Leu225Val)
c.760C>G (p.Leu254Val)
c.415C>G (p.Leu139Val)
c.763C>G (p.Leu255Val)
c.661C>G (p.Leu221Val)
n.622C>G
c.604C>G (p.Leu202Val)
c.667C>G (p.Leu223Val)
c.655C>G (p.Leu219Val)
2g.144404047G=CA1294887210ZEB2c.*525C= (n.*525C=)
c.-102C= (n.-102C=)
c.676C= (p.Leu226=)
n.645C=
c.340C= (p.Leu114=)
c.*393C= (n.*393C=)
n.776C=
c.-133-5197C= (n.-133-5197C=)
c.673C= (p.Leu225=)
c.760C= (p.Leu254=)
c.415C= (p.Leu139=)
c.763C= (p.Leu255=)
c.661C= (p.Leu221=)
n.622C=
c.604C= (p.Leu202=)
c.667C= (p.Leu223=)
c.655C= (p.Leu219=)
2g.144404047G>TCA348714854ZEB2c.*525C>A (n.*525C>A)
c.-102C>A (n.-102C>A)
c.676C>A (p.Leu226Met)
n.645C>A
c.340C>A (p.Leu114Met)
c.*393C>A (n.*393C>A)
n.776C>A
c.-133-5197C>A (n.-133-5197C>A)
c.673C>A (p.Leu225Met)
c.760C>A (p.Leu254Met)
c.415C>A (p.Leu139Met)
c.763C>A (p.Leu255Met)
c.661C>A (p.Leu221Met)
n.622C>A
c.604C>A (p.Leu202Met)
c.667C>A (p.Leu223Met)
c.655C>A (p.Leu219Met)

Number of alleles fetched