Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.121854707_121854709dupCA2671949185BBS7c.717_718+1dup
c.720_721+1dup
c.765_766+1dup
c.762_763+1dup
 gnomAD v4
4g.121854706_121854710delinsCCTCTCA1490025972BBS7c.712_716delinsAGAGG (p.Arg238=)
c.715_719delinsAGAGG (p.Arg239=)
c.760_764delinsAGAGG (p.Arg254=)
c.757_761delinsAGAGG (p.Arg253=)
4g.121854709_121854712delCA3064432BBS7c.712_715del (p.Arg238GlufsTer?)
c.715_718del (p.Arg239GlufsTer?)
c.760_763del (p.Arg254GlufsTer?)
c.757_760del (p.Arg253GlufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854709C>ACA358065553BBS7c.713G>T (p.Arg238Ile)
c.716G>T (p.Arg239Ile)
c.761G>T (p.Arg254Ile)
c.758G>T (p.Arg253Ile)
4g.121854709C>GCA358065554BBS7c.713G>C (p.Arg238Thr)
c.716G>C (p.Arg239Thr)
c.761G>C (p.Arg254Thr)
c.758G>C (p.Arg253Thr)
4g.121854709C>TCA358065555BBS7c.713G>A (p.Arg238Lys)
c.716G>A (p.Arg239Lys)
c.761G>A (p.Arg254Lys)
c.758G>A (p.Arg253Lys)
 gnomAD v4
4g.121854709_121854713delinsCTCTTCA1490025973BBS7c.709_713delinsAAGAG (p.Lys237=)
c.712_716delinsAAGAG (p.Lys238=)
c.757_761delinsAAGAG (p.Lys253=)
c.754_758delinsAAGAG (p.Lys252=)
4g.121854710T>ACA358065556BBS7c.712A>T (p.Arg238Ter)
c.715A>T (p.Arg239Ter)
c.760A>T (p.Arg254Ter)
c.757A>T (p.Arg253Ter)
4g.121854710T>CCA358065560BBS7c.712A>G (p.Arg238Gly)
c.715A>G (p.Arg239Gly)
c.760A>G (p.Arg254Gly)
c.757A>G (p.Arg253Gly)
 gnomAD v4
4g.121854710T>GCA440922768BBS7c.712A>C (p.Arg238=)
c.715A>C (p.Arg239=)
c.760A>C (p.Arg254=)
c.757A>C (p.Arg253=)
4g.121854711_121854714delCA252535BBS7c.709_712del (p.Lys237GlufsTer?)
c.712_715del (p.Lys238GlufsTer?)
c.757_760del (p.Lys253GlufsTer?)
c.754_757del (p.Lys252GlufsTer?)
 ClinVar dbSNP
4g.121854711C>ACA358065574BBS7c.711G>T (p.Lys237Asn)
c.714G>T (p.Lys238Asn)
c.759G>T (p.Lys253Asn)
c.756G>T (p.Lys252Asn)
 ClinVar
4g.121854711C>GCA358065573BBS7c.711G>C (p.Lys237Asn)
c.714G>C (p.Lys238Asn)
c.759G>C (p.Lys253Asn)
c.756G>C (p.Lys252Asn)
4g.121854711C>TCA440922769BBS7c.711G>A (p.Lys237=)
c.714G>A (p.Lys238=)
c.759G>A (p.Lys253=)
c.756G>A (p.Lys252=)
4g.121854712T>ACA358065575BBS7c.710A>T (p.Lys237Met)
c.713A>T (p.Lys238Met)
c.758A>T (p.Lys253Met)
c.755A>T (p.Lys252Met)
4g.121854712T>CCA358065576BBS7c.710A>G (p.Lys237Arg)
c.713A>G (p.Lys238Arg)
c.758A>G (p.Lys253Arg)
c.755A>G (p.Lys252Arg)
 dbSNP gnomAD v4
4g.121854712T>GCA358065577BBS7c.710A>C (p.Lys237Thr)
c.713A>C (p.Lys238Thr)
c.758A>C (p.Lys253Thr)
c.755A>C (p.Lys252Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854712T=CA1490025974BBS7c.710A= (p.Lys237=)
c.713A= (p.Lys238=)
c.758A= (p.Lys253=)
c.755A= (p.Lys252=)
4g.121854716delCA2671949186BBS7c.710del (p.Lys237ArgfsTer?)
c.713del (p.Lys238ArgfsTer?)
c.758del (p.Lys253ArgfsTer?)
c.755del (p.Lys252ArgfsTer?)
 gnomAD v4
4g.121854713T>ACA358065578BBS7c.709A>T (p.Lys237Ter)
c.712A>T (p.Lys238Ter)
c.757A>T (p.Lys253Ter)
c.754A>T (p.Lys252Ter)
4g.121854713T>CCA358065579BBS7c.709A>G (p.Lys237Glu)
c.712A>G (p.Lys238Glu)
c.757A>G (p.Lys253Glu)
c.754A>G (p.Lys252Glu)
4g.121854713T>GCA358065582BBS7c.709A>C (p.Lys237Gln)
c.712A>C (p.Lys238Gln)
c.757A>C (p.Lys253Gln)
c.754A>C (p.Lys252Gln)
 gnomAD v4
4g.121854714T>ACA358065584BBS7c.708A>T (p.Lys236Asn)
c.711A>T (p.Lys237Asn)
c.756A>T (p.Lys252Asn)
c.753A>T (p.Lys251Asn)
4g.121854714T>CCA440922773BBS7c.708A>G (p.Lys236=)
c.711A>G (p.Lys237=)
c.756A>G (p.Lys252=)
c.753A>G (p.Lys251=)
 dbSNP gnomAD v2
4g.121854714T>GCA358065587BBS7c.708A>C (p.Lys236Asn)
c.711A>C (p.Lys237Asn)
c.756A>C (p.Lys252Asn)
c.753A>C (p.Lys251Asn)
 dbSNP gnomAD v2 gnomAD v4
4g.121854714T=CA1490025975BBS7c.708A= (p.Lys236=)
c.711A= (p.Lys237=)
c.756A= (p.Lys252=)
c.753A= (p.Lys251=)
4g.121854715T>ACA358065591BBS7c.707A>T (p.Lys236Ile)
c.710A>T (p.Lys237Ile)
c.755A>T (p.Lys252Ile)
c.752A>T (p.Lys251Ile)
4g.121854715T>CCA358065595BBS7c.707A>G (p.Lys236Arg)
c.710A>G (p.Lys237Arg)
c.755A>G (p.Lys252Arg)
c.752A>G (p.Lys251Arg)
4g.121854715T>GCA358065606BBS7c.707A>C (p.Lys236Thr)
c.710A>C (p.Lys237Thr)
c.755A>C (p.Lys252Thr)
c.752A>C (p.Lys251Thr)
4g.121854716T>ACA358065612BBS7c.706A>T (p.Lys236Ter)
c.709A>T (p.Lys237Ter)
c.754A>T (p.Lys252Ter)
c.751A>T (p.Lys251Ter)
4g.121854716T>CCA358065613BBS7c.706A>G (p.Lys236Glu)
c.709A>G (p.Lys237Glu)
c.754A>G (p.Lys252Glu)
c.751A>G (p.Lys251Glu)
4g.121854716T>GCA358065614BBS7c.706A>C (p.Lys236Gln)
c.709A>C (p.Lys237Gln)
c.754A>C (p.Lys252Gln)
c.751A>C (p.Lys251Gln)
4g.121854717C>ACA358065615BBS7c.705G>T (p.Glu235Asp)
c.708G>T (p.Glu236Asp)
c.753G>T (p.Glu251Asp)
c.750G>T (p.Glu250Asp)
4g.121854717C>GCA358065616BBS7c.705G>C (p.Glu235Asp)
c.708G>C (p.Glu236Asp)
c.753G>C (p.Glu251Asp)
c.750G>C (p.Glu250Asp)
4g.121854717C>TCA440922775BBS7c.705G>A (p.Glu235=)
c.708G>A (p.Glu236=)
c.753G>A (p.Glu251=)
c.750G>A (p.Glu250=)
4g.121854718T>ACA358065620BBS7c.704A>T (p.Glu235Val)
c.707A>T (p.Glu236Val)
c.752A>T (p.Glu251Val)
c.749A>T (p.Glu250Val)
4g.121854718T>CCA358065639BBS7c.704A>G (p.Glu235Gly)
c.707A>G (p.Glu236Gly)
c.752A>G (p.Glu251Gly)
c.749A>G (p.Glu250Gly)
4g.121854718T>GCA358065636BBS7c.704A>C (p.Glu235Ala)
c.707A>C (p.Glu236Ala)
c.752A>C (p.Glu251Ala)
c.749A>C (p.Glu250Ala)
4g.121854719C>ACA358065641BBS7c.703G>T (p.Glu235Ter)
c.706G>T (p.Glu236Ter)
c.751G>T (p.Glu251Ter)
c.748G>T (p.Glu250Ter)
4g.121854719C>GCA358065646BBS7c.703G>C (p.Glu235Gln)
c.706G>C (p.Glu236Gln)
c.751G>C (p.Glu251Gln)
c.748G>C (p.Glu250Gln)
4g.121854719C>TCA358065643BBS7c.703G>A (p.Glu235Lys)
c.706G>A (p.Glu236Lys)
c.751G>A (p.Glu251Lys)
c.748G>A (p.Glu250Lys)
4g.121854720A=CA1490025976BBS7c.702T= (p.Asn234=)
c.705T= (p.Asn235=)
c.750T= (p.Asn250=)
c.747T= (p.Asn249=)
4g.121854720A>CCA358065651BBS7c.702T>G (p.Asn234Lys)
c.705T>G (p.Asn235Lys)
c.750T>G (p.Asn250Lys)
c.747T>G (p.Asn249Lys)
 gnomAD v4
4g.121854720A>GCA440922776BBS7c.702T>C (p.Asn234=)
c.705T>C (p.Asn235=)
c.750T>C (p.Asn250=)
c.747T>C (p.Asn249=)
 dbSNP gnomAD v2 gnomAD v4
4g.121854720A>TCA358065653BBS7c.702T>A (p.Asn234Lys)
c.705T>A (p.Asn235Lys)
c.750T>A (p.Asn250Lys)
c.747T>A (p.Asn249Lys)
4g.121854721T>ACA358065656BBS7c.701A>T (p.Asn234Ile)
c.704A>T (p.Asn235Ile)
c.749A>T (p.Asn250Ile)
c.746A>T (p.Asn249Ile)
4g.121854721T>CCA358065659BBS7c.701A>G (p.Asn234Ser)
c.704A>G (p.Asn235Ser)
c.749A>G (p.Asn250Ser)
c.746A>G (p.Asn249Ser)
4g.121854721T>GCA358065662BBS7c.701A>C (p.Asn234Thr)
c.704A>C (p.Asn235Thr)
c.749A>C (p.Asn250Thr)
c.746A>C (p.Asn249Thr)
4g.121854722T>ACA358065664BBS7c.700A>T (p.Asn234Tyr)
c.703A>T (p.Asn235Tyr)
c.748A>T (p.Asn250Tyr)
c.745A>T (p.Asn249Tyr)
4g.121854722T>CCA358065666BBS7c.700A>G (p.Asn234Asp)
c.703A>G (p.Asn235Asp)
c.748A>G (p.Asn250Asp)
c.745A>G (p.Asn249Asp)
4g.121854722T>GCA358065667BBS7c.700A>C (p.Asn234His)
c.703A>C (p.Asn235His)
c.748A>C (p.Asn250His)
c.745A>C (p.Asn249His)
4g.121854723T>ACA358065668BBS7c.699A>T (p.Gln233His)
c.702A>T (p.Gln234His)
c.747A>T (p.Gln249His)
c.744A>T (p.Gln248His)
4g.121854723T>CCA440922777BBS7c.699A>G (p.Gln233=)
c.702A>G (p.Gln234=)
c.747A>G (p.Gln249=)
c.744A>G (p.Gln248=)
4g.121854723T>GCA358065670BBS7c.699A>C (p.Gln233His)
c.702A>C (p.Gln234His)
c.747A>C (p.Gln249His)
c.744A>C (p.Gln248His)
4g.121854724T>ACA358065679BBS7c.698A>T (p.Gln233Leu)
c.701A>T (p.Gln234Leu)
c.746A>T (p.Gln249Leu)
c.743A>T (p.Gln248Leu)
4g.121854724T>CCA358065674BBS7c.698A>G (p.Gln233Arg)
c.701A>G (p.Gln234Arg)
c.746A>G (p.Gln249Arg)
c.743A>G (p.Gln248Arg)
4g.121854724T>GCA358065672BBS7c.698A>C (p.Gln233Pro)
c.701A>C (p.Gln234Pro)
c.746A>C (p.Gln249Pro)
c.743A>C (p.Gln248Pro)
4g.121854725G>ACA358065681BBS7c.697C>T (p.Gln233Ter)
c.700C>T (p.Gln234Ter)
c.745C>T (p.Gln249Ter)
c.742C>T (p.Gln248Ter)
4g.121854725G>CCA358065683BBS7c.697C>G (p.Gln233Glu)
c.700C>G (p.Gln234Glu)
c.745C>G (p.Gln249Glu)
c.742C>G (p.Gln248Glu)
4g.121854725G>TCA358065688BBS7c.697C>A (p.Gln233Lys)
c.700C>A (p.Gln234Lys)
c.745C>A (p.Gln249Lys)
c.742C>A (p.Gln248Lys)
4g.121854726A=CA1490025977BBS7c.696T= (p.Ile232=)
c.699T= (p.Ile233=)
c.744T= (p.Ile248=)
c.741T= (p.Ile247=)
4g.121854726A>CCA358065692BBS7c.696T>G (p.Ile232Met)
c.699T>G (p.Ile233Met)
c.744T>G (p.Ile248Met)
c.741T>G (p.Ile247Met)
 dbSNP
4g.121854726A>GCA440922778BBS7c.696T>C (p.Ile232=)
c.699T>C (p.Ile233=)
c.744T>C (p.Ile248=)
c.741T>C (p.Ile247=)
4g.121854726A>TCA440922779BBS7c.696T>A (p.Ile232=)
c.699T>A (p.Ile233=)
c.744T>A (p.Ile248=)
c.741T>A (p.Ile247=)
4g.121854727A>CCA358065695BBS7c.695T>G (p.Ile232Ser)
c.698T>G (p.Ile233Ser)
c.743T>G (p.Ile248Ser)
c.740T>G (p.Ile247Ser)
4g.121854727A>GCA358065702BBS7c.695T>C (p.Ile232Thr)
c.698T>C (p.Ile233Thr)
c.743T>C (p.Ile248Thr)
c.740T>C (p.Ile247Thr)
4g.121854727A>TCA358065705BBS7c.695T>A (p.Ile232Asn)
c.698T>A (p.Ile233Asn)
c.743T>A (p.Ile248Asn)
c.740T>A (p.Ile247Asn)
4g.121854728T>ACA358065709BBS7c.694A>T (p.Ile232Phe)
c.697A>T (p.Ile233Phe)
c.742A>T (p.Ile248Phe)
c.739A>T (p.Ile247Phe)
4g.121854728T>CCA358065711BBS7c.694A>G (p.Ile232Val)
c.697A>G (p.Ile233Val)
c.742A>G (p.Ile248Val)
c.739A>G (p.Ile247Val)
4g.121854728T>GCA358065713BBS7c.694A>C (p.Ile232Leu)
c.697A>C (p.Ile233Leu)
c.742A>C (p.Ile248Leu)
c.739A>C (p.Ile247Leu)
4g.121854729T>ACA358065716BBS7c.693A>T (p.Glu231Asp)
c.696A>T (p.Glu232Asp)
c.741A>T (p.Glu247Asp)
c.738A>T (p.Glu246Asp)
4g.121854729T>CCA440922780BBS7c.693A>G (p.Glu231=)
c.696A>G (p.Glu232=)
c.741A>G (p.Glu247=)
c.738A>G (p.Glu246=)
4g.121854729T>GCA358065720BBS7c.693A>C (p.Glu231Asp)
c.696A>C (p.Glu232Asp)
c.741A>C (p.Glu247Asp)
c.738A>C (p.Glu246Asp)
4g.121854730T>ACA358065734BBS7c.692A>T (p.Glu231Val)
c.695A>T (p.Glu232Val)
c.740A>T (p.Glu247Val)
c.737A>T (p.Glu246Val)
4g.121854730T>CCA358065730BBS7c.692A>G (p.Glu231Gly)
c.695A>G (p.Glu232Gly)
c.740A>G (p.Glu247Gly)
c.737A>G (p.Glu246Gly)
 COSMIC
4g.121854730T>GCA358065723BBS7c.692A>C (p.Glu231Ala)
c.695A>C (p.Glu232Ala)
c.740A>C (p.Glu247Ala)
c.737A>C (p.Glu246Ala)
4g.121854731C>ACA358065744BBS7c.691G>T (p.Glu231Ter)
c.694G>T (p.Glu232Ter)
c.739G>T (p.Glu247Ter)
c.736G>T (p.Glu246Ter)
4g.121854731C>GCA358065736BBS7c.691G>C (p.Glu231Gln)
c.694G>C (p.Glu232Gln)
c.739G>C (p.Glu247Gln)
c.736G>C (p.Glu246Gln)
4g.121854731C>TCA358065740BBS7c.691G>A (p.Glu231Lys)
c.694G>A (p.Glu232Lys)
c.739G>A (p.Glu247Lys)
c.736G>A (p.Glu246Lys)
4g.121854732C>ACA358065747BBS7c.690G>T (p.Trp230Cys)
c.693G>T (p.Trp231Cys)
c.738G>T (p.Trp246Cys)
c.735G>T (p.Trp245Cys)
4g.121854732C=CA1490025978BBS7c.690G= (p.Trp230=)
c.693G= (p.Trp231=)
c.738G= (p.Trp246=)
c.735G= (p.Trp245=)
4g.121854732C>GCA358065751BBS7c.690G>C (p.Trp230Cys)
c.693G>C (p.Trp231Cys)
c.738G>C (p.Trp246Cys)
c.735G>C (p.Trp245Cys)
4g.121854732C>TCA3064433BBS7c.690G>A (p.Trp230Ter)
c.693G>A (p.Trp231Ter)
c.738G>A (p.Trp246Ter)
c.735G>A (p.Trp245Ter)
 ClinVar dbSNP ExAC gnomAD v2
4g.121854733C>ACA358065757BBS7c.689G>T (p.Trp230Leu)
c.692G>T (p.Trp231Leu)
c.737G>T (p.Trp246Leu)
c.734G>T (p.Trp245Leu)
4g.121854733C>GCA358065761BBS7c.689G>C (p.Trp230Ser)
c.692G>C (p.Trp231Ser)
c.737G>C (p.Trp246Ser)
c.734G>C (p.Trp245Ser)
4g.121854733C>TCA358065764BBS7c.689G>A (p.Trp230Ter)
c.692G>A (p.Trp231Ter)
c.737G>A (p.Trp246Ter)
c.734G>A (p.Trp245Ter)
4g.121854734A=CA1490025979BBS7c.688T= (p.Trp230=)
c.691T= (p.Trp231=)
c.736T= (p.Trp246=)
c.733T= (p.Trp245=)
4g.121854734A>CCA358065768BBS7c.688T>G (p.Trp230Gly)
c.691T>G (p.Trp231Gly)
c.736T>G (p.Trp246Gly)
c.733T>G (p.Trp245Gly)
4g.121854734A>GCA358065773BBS7c.688T>C (p.Trp230Arg)
c.691T>C (p.Trp231Arg)
c.736T>C (p.Trp246Arg)
c.733T>C (p.Trp245Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.121854734A>TCA358065777BBS7c.688T>A (p.Trp230Arg)
c.691T>A (p.Trp231Arg)
c.736T>A (p.Trp246Arg)
c.733T>A (p.Trp245Arg)
4g.121854735C>ACA358065780BBS7c.687G>T (p.Lys229Asn)
c.690G>T (p.Lys230Asn)
c.735G>T (p.Lys245Asn)
c.732G>T (p.Lys244Asn)
4g.121854735C>GCA358065782BBS7c.687G>C (p.Lys229Asn)
c.690G>C (p.Lys230Asn)
c.735G>C (p.Lys245Asn)
c.732G>C (p.Lys244Asn)
4g.121854735C>TCA440922781BBS7c.687G>A (p.Lys229=)
c.690G>A (p.Lys230=)
c.735G>A (p.Lys245=)
c.732G>A (p.Lys244=)
4g.121854736T>ACA358065795BBS7c.686A>T (p.Lys229Met)
c.689A>T (p.Lys230Met)
c.734A>T (p.Lys245Met)
c.731A>T (p.Lys244Met)
4g.121854736T>CCA358065787BBS7c.686A>G (p.Lys229Arg)
c.689A>G (p.Lys230Arg)
c.734A>G (p.Lys245Arg)
c.731A>G (p.Lys244Arg)
4g.121854736T>GCA358065789BBS7c.686A>C (p.Lys229Thr)
c.689A>C (p.Lys230Thr)
c.734A>C (p.Lys245Thr)
c.731A>C (p.Lys244Thr)
4g.121854737T>ACA358065799BBS7c.685A>T (p.Lys229Ter)
c.688A>T (p.Lys230Ter)
c.733A>T (p.Lys245Ter)
c.730A>T (p.Lys244Ter)
4g.121854737T>CCA358065802BBS7c.685A>G (p.Lys229Glu)
c.688A>G (p.Lys230Glu)
c.733A>G (p.Lys245Glu)
c.730A>G (p.Lys244Glu)
4g.121854737T>GCA358065805BBS7c.685A>C (p.Lys229Gln)
c.688A>C (p.Lys230Gln)
c.733A>C (p.Lys245Gln)
c.730A>C (p.Lys244Gln)
4g.121854738G>ACA440922782BBS7c.684C>T (p.Arg228=)
c.687C>T (p.Arg229=)
c.732C>T (p.Arg244=)
c.729C>T (p.Arg243=)
4g.121854738G>CCA440922783BBS7c.684C>G (p.Arg228=)
c.687C>G (p.Arg229=)
c.732C>G (p.Arg244=)
c.729C>G (p.Arg243=)
4g.121854738G=CA1490025980BBS7c.684C= (p.Arg228=)
c.687C= (p.Arg229=)
c.732C= (p.Arg244=)
c.729C= (p.Arg243=)
4g.121854738G>TCA440922784BBS7c.684C>A (p.Arg228=)
c.687C>A (p.Arg229=)
c.732C>A (p.Arg244=)
c.729C>A (p.Arg243=)
 dbSNP gnomAD v2
4g.121854739C>ACA3064435BBS7c.683G>T (p.Arg228Leu)
c.686G>T (p.Arg229Leu)
c.731G>T (p.Arg244Leu)
c.728G>T (p.Arg243Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854739C=CA1490025981BBS7c.683G= (p.Arg228=)
c.686G= (p.Arg229=)
c.731G= (p.Arg244=)
c.728G= (p.Arg243=)
4g.121854739C>GCA358065813BBS7c.683G>C (p.Arg228Pro)
c.686G>C (p.Arg229Pro)
c.731G>C (p.Arg244Pro)
c.728G>C (p.Arg243Pro)
4g.121854739C>TCA3064434BBS7c.683G>A (p.Arg228His)
c.686G>A (p.Arg229His)
c.731G>A (p.Arg244His)
c.728G>A (p.Arg243His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.121854740G>ACA358065818BBS7c.682C>T (p.Arg228Cys)
c.685C>T (p.Arg229Cys)
c.730C>T (p.Arg244Cys)
c.727C>T (p.Arg243Cys)
 ClinVar dbSNP gnomAD v4
4g.121854740G>CCA3064436BBS7c.682C>G (p.Arg228Gly)
c.685C>G (p.Arg229Gly)
c.730C>G (p.Arg244Gly)
c.727C>G (p.Arg243Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854740G=CA1490025982BBS7c.682C= (p.Arg228=)
c.685C= (p.Arg229=)
c.730C= (p.Arg244=)
c.727C= (p.Arg243=)
4g.121854740G>TCA358065821BBS7c.682C>A (p.Arg228Ser)
c.685C>A (p.Arg229Ser)
c.730C>A (p.Arg244Ser)
c.727C>A (p.Arg243Ser)
4g.121854741T>ACA440922785BBS7c.681A>T (p.Val227=)
c.684A>T (p.Val228=)
c.729A>T (p.Val243=)
c.726A>T (p.Val242=)
4g.121854741T>CCA440922786BBS7c.681A>G (p.Val227=)
c.684A>G (p.Val228=)
c.729A>G (p.Val243=)
c.726A>G (p.Val242=)
4g.121854741T>GCA440922787BBS7c.681A>C (p.Val227=)
c.684A>C (p.Val228=)
c.729A>C (p.Val243=)
c.726A>C (p.Val242=)
4g.121854742A=CA1490025983BBS7c.680T= (p.Val227=)
c.683T= (p.Val228=)
c.728T= (p.Val243=)
c.725T= (p.Val242=)
4g.121854742A>CCA358065825BBS7c.680T>G (p.Val227Gly)
c.683T>G (p.Val228Gly)
c.728T>G (p.Val243Gly)
c.725T>G (p.Val242Gly)
4g.121854742A>GCA358065827BBS7c.680T>C (p.Val227Ala)
c.683T>C (p.Val228Ala)
c.728T>C (p.Val243Ala)
c.725T>C (p.Val242Ala)
 dbSNP
4g.121854742A>TCA358065829BBS7c.680T>A (p.Val227Glu)
c.683T>A (p.Val228Glu)
c.728T>A (p.Val243Glu)
c.725T>A (p.Val242Glu)
4g.121854743C>ACA358065837BBS7c.679G>T (p.Val227Leu)
c.682G>T (p.Val228Leu)
c.727G>T (p.Val243Leu)
c.724G>T (p.Val242Leu)
4g.121854743C>GCA358065846BBS7c.679G>C (p.Val227Leu)
c.682G>C (p.Val228Leu)
c.727G>C (p.Val243Leu)
c.724G>C (p.Val242Leu)
4g.121854743C>TCA358065836BBS7c.679G>A (p.Val227Ile)
c.682G>A (p.Val228Ile)
c.727G>A (p.Val243Ile)
c.724G>A (p.Val242Ile)
4g.121854744T>ACA440922788BBS7c.678A>T (p.Pro226=)
c.681A>T (p.Pro227=)
c.726A>T (p.Pro242=)
c.723A>T (p.Pro241=)
4g.121854744T>CCA440922789BBS7c.678A>G (p.Pro226=)
c.681A>G (p.Pro227=)
c.726A>G (p.Pro242=)
c.723A>G (p.Pro241=)
4g.121854744T>GCA440922790BBS7c.678A>C (p.Pro226=)
c.681A>C (p.Pro227=)
c.726A>C (p.Pro242=)
c.723A>C (p.Pro241=)
4g.121854745G>ACA358065853BBS7c.677C>T (p.Pro226Leu)
c.680C>T (p.Pro227Leu)
c.725C>T (p.Pro242Leu)
c.722C>T (p.Pro241Leu)
 gnomAD v4
4g.121854745G>CCA358065855BBS7c.677C>G (p.Pro226Arg)
c.680C>G (p.Pro227Arg)
c.725C>G (p.Pro242Arg)
c.722C>G (p.Pro241Arg)
4g.121854745G>TCA358065861BBS7c.677C>A (p.Pro226Gln)
c.680C>A (p.Pro227Gln)
c.725C>A (p.Pro242Gln)
c.722C>A (p.Pro241Gln)
4g.121854746G>ACA358065864BBS7c.676C>T (p.Pro226Ser)
c.679C>T (p.Pro227Ser)
c.724C>T (p.Pro242Ser)
c.721C>T (p.Pro241Ser)
4g.121854746G>CCA358065866BBS7c.676C>G (p.Pro226Ala)
c.679C>G (p.Pro227Ala)
c.724C>G (p.Pro242Ala)
c.721C>G (p.Pro241Ala)
 dbSNP
4g.121854746G=CA1490025984BBS7c.676C= (p.Pro226=)
c.679C= (p.Pro227=)
c.724C= (p.Pro242=)
c.721C= (p.Pro241=)
4g.121854746G>TCA358065869BBS7c.676C>A (p.Pro226Thr)
c.679C>A (p.Pro227Thr)
c.724C>A (p.Pro242Thr)
c.721C>A (p.Pro241Thr)
4g.121854747T>ACA358065873BBS7c.675A>T (p.Lys225Asn)
c.678A>T (p.Lys226Asn)
c.723A>T (p.Lys241Asn)
c.720A>T (p.Lys240Asn)
4g.121854747T>CCA440922791BBS7c.675A>G (p.Lys225=)
c.678A>G (p.Lys226=)
c.723A>G (p.Lys241=)
c.720A>G (p.Lys240=)
4g.121854747T>GCA358065871BBS7c.675A>C (p.Lys225Asn)
c.678A>C (p.Lys226Asn)
c.723A>C (p.Lys241Asn)
c.720A>C (p.Lys240Asn)
4g.121854748T>ACA358065876BBS7c.674A>T (p.Lys225Ile)
c.677A>T (p.Lys226Ile)
c.722A>T (p.Lys241Ile)
c.719A>T (p.Lys240Ile)
4g.121854748T>CCA358065877BBS7c.674A>G (p.Lys225Arg)
c.677A>G (p.Lys226Arg)
c.722A>G (p.Lys241Arg)
c.719A>G (p.Lys240Arg)
4g.121854748T>GCA358065880BBS7c.674A>C (p.Lys225Thr)
c.677A>C (p.Lys226Thr)
c.722A>C (p.Lys241Thr)
c.719A>C (p.Lys240Thr)
4g.121854749T>ACA358065882BBS7c.673A>T (p.Lys225Ter)
c.676A>T (p.Lys226Ter)
c.721A>T (p.Lys241Ter)
c.718A>T (p.Lys240Ter)
4g.121854749T>CCA104766682BBS7c.673A>G (p.Lys225Glu)
c.676A>G (p.Lys226Glu)
c.721A>G (p.Lys241Glu)
c.718A>G (p.Lys240Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.121854749T>GCA358065885BBS7c.673A>C (p.Lys225Gln)
c.676A>C (p.Lys226Gln)
c.721A>C (p.Lys241Gln)
c.718A>C (p.Lys240Gln)
4g.121854749T=CA1490025985BBS7c.673A= (p.Lys225=)
c.676A= (p.Lys226=)
c.721A= (p.Lys241=)
c.718A= (p.Lys240=)
4g.121854750G>ACA440922792BBS7c.672C>T (p.Ser224=)
c.675C>T (p.Ser225=)
c.720C>T (p.Ser240=)
c.717C>T (p.Ser239=)
4g.121854750G>CCA440922794BBS7c.672C>G (p.Ser224=)
c.675C>G (p.Ser225=)
c.720C>G (p.Ser240=)
c.717C>G (p.Ser239=)
4g.121854750G>TCA440922793BBS7c.672C>A (p.Ser224=)
c.675C>A (p.Ser225=)
c.720C>A (p.Ser240=)
c.717C>A (p.Ser239=)
4g.121854751G>ACA358065892BBS7c.671C>T (p.Ser224Phe)
c.674C>T (p.Ser225Phe)
c.719C>T (p.Ser240Phe)
c.716C>T (p.Ser239Phe)
4g.121854751G>CCA358065888BBS7c.671C>G (p.Ser224Cys)
c.674C>G (p.Ser225Cys)
c.719C>G (p.Ser240Cys)
c.716C>G (p.Ser239Cys)
4g.121854751G>TCA358065891BBS7c.671C>A (p.Ser224Tyr)
c.674C>A (p.Ser225Tyr)
c.719C>A (p.Ser240Tyr)
c.716C>A (p.Ser239Tyr)
4g.121854752A>CCA358065895BBS7c.670T>G (p.Ser224Ala)
c.673T>G (p.Ser225Ala)
c.718T>G (p.Ser240Ala)
c.715T>G (p.Ser239Ala)
4g.121854752A>GCA358065898BBS7c.670T>C (p.Ser224Pro)
c.673T>C (p.Ser225Pro)
c.718T>C (p.Ser240Pro)
c.715T>C (p.Ser239Pro)
4g.121854752A>TCA358065899BBS7c.670T>A (p.Ser224Thr)
c.673T>A (p.Ser225Thr)
c.718T>A (p.Ser240Thr)
c.715T>A (p.Ser239Thr)
4g.121854753T>ACA440922795BBS7c.669A>T (p.Thr223=)
c.672A>T (p.Thr224=)
c.717A>T (p.Thr239=)
c.714A>T (p.Thr238=)
4g.121854753T>CCA440922796BBS7c.669A>G (p.Thr223=)
c.672A>G (p.Thr224=)
c.717A>G (p.Thr239=)
c.714A>G (p.Thr238=)
 gnomAD v4
4g.121854753T>GCA440922797BBS7c.669A>C (p.Thr223=)
c.672A>C (p.Thr224=)
c.717A>C (p.Thr239=)
c.714A>C (p.Thr238=)
4g.121854754G>ACA358065904BBS7c.668C>T (p.Thr223Ile)
c.671C>T (p.Thr224Ile)
c.716C>T (p.Thr239Ile)
c.713C>T (p.Thr238Ile)
4g.121854754G>CCA358065906BBS7c.668C>G (p.Thr223Arg)
c.671C>G (p.Thr224Arg)
c.716C>G (p.Thr239Arg)
c.713C>G (p.Thr238Arg)
4g.121854754G>TCA358065908BBS7c.668C>A (p.Thr223Lys)
c.671C>A (p.Thr224Lys)
c.716C>A (p.Thr239Lys)
c.713C>A (p.Thr238Lys)
4g.121854755T>ACA358065912BBS7c.667A>T (p.Thr223Ser)
c.670A>T (p.Thr224Ser)
c.715A>T (p.Thr239Ser)
c.712A>T (p.Thr238Ser)
4g.121854755T>CCA358065914BBS7c.667A>G (p.Thr223Ala)
c.670A>G (p.Thr224Ala)
c.715A>G (p.Thr239Ala)
c.712A>G (p.Thr238Ala)
 dbSNP
4g.121854755T>GCA358065917BBS7c.667A>C (p.Thr223Pro)
c.670A>C (p.Thr224Pro)
c.715A>C (p.Thr239Pro)
c.712A>C (p.Thr238Pro)
4g.121854755T=CA1490025986BBS7c.667A= (p.Thr223=)
c.670A= (p.Thr224=)
c.715A= (p.Thr239=)
c.712A= (p.Thr238=)
4g.121854756A>CCA440922798BBS7c.666T>G (p.Thr222=)
c.669T>G (p.Thr223=)
c.714T>G (p.Thr238=)
c.711T>G (p.Thr237=)
4g.121854756A>GCA440922799BBS7c.666T>C (p.Thr222=)
c.669T>C (p.Thr223=)
c.714T>C (p.Thr238=)
c.711T>C (p.Thr237=)
 ClinVar
4g.121854756A>TCA440922800BBS7c.666T>A (p.Thr222=)
c.669T>A (p.Thr223=)
c.714T>A (p.Thr238=)
c.711T>A (p.Thr237=)
4g.121854757G>ACA358065918BBS7c.665C>T (p.Thr222Ile)
c.668C>T (p.Thr223Ile)
c.713C>T (p.Thr238Ile)
c.710C>T (p.Thr237Ile)
4g.121854757G>CCA358065919BBS7c.665C>G (p.Thr222Ser)
c.668C>G (p.Thr223Ser)
c.713C>G (p.Thr238Ser)
c.710C>G (p.Thr237Ser)
 gnomAD v4
4g.121854757G>TCA358065921BBS7c.665C>A (p.Thr222Asn)
c.668C>A (p.Thr223Asn)
c.713C>A (p.Thr238Asn)
c.710C>A (p.Thr237Asn)
4g.121854758T>ACA358065924BBS7c.664A>T (p.Thr222Ser)
c.667A>T (p.Thr223Ser)
c.712A>T (p.Thr238Ser)
c.709A>T (p.Thr237Ser)
4g.121854758T>CCA3064437BBS7c.664A>G (p.Thr222Ala)
c.667A>G (p.Thr223Ala)
c.712A>G (p.Thr238Ala)
c.709A>G (p.Thr237Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854758T>GCA358065927BBS7c.664A>C (p.Thr222Pro)
c.667A>C (p.Thr223Pro)
c.712A>C (p.Thr238Pro)
c.709A>C (p.Thr237Pro)
4g.121854758T=CA1490025987BBS7c.664A= (p.Thr222=)
c.667A= (p.Thr223=)
c.712A= (p.Thr238=)
c.709A= (p.Thr237=)
4g.121854759A>CCA358065930BBS7c.663T>G (p.Ile221Met)
c.666T>G (p.Ile222Met)
c.711T>G (p.Ile237Met)
c.708T>G (p.Ile236Met)
4g.121854759A>GCA440922801BBS7c.663T>C (p.Ile221=)
c.666T>C (p.Ile222=)
c.711T>C (p.Ile237=)
c.708T>C (p.Ile236=)
4g.121854759A>TCA440922802BBS7c.663T>A (p.Ile221=)
c.666T>A (p.Ile222=)
c.711T>A (p.Ile237=)
c.708T>A (p.Ile236=)
4g.121854760A>CCA358065932BBS7c.662T>G (p.Ile221Ser)
c.665T>G (p.Ile222Ser)
c.710T>G (p.Ile237Ser)
c.707T>G (p.Ile236Ser)
4g.121854760A>GCA358065935BBS7c.662T>C (p.Ile221Thr)
c.665T>C (p.Ile222Thr)
c.710T>C (p.Ile237Thr)
c.707T>C (p.Ile236Thr)
4g.121854760A>TCA358065937BBS7c.662T>A (p.Ile221Asn)
c.665T>A (p.Ile222Asn)
c.710T>A (p.Ile237Asn)
c.707T>A (p.Ile236Asn)
4g.121854761T>ACA3064438BBS7c.661A>T (p.Ile221Phe)
c.664A>T (p.Ile222Phe)
c.709A>T (p.Ile237Phe)
c.706A>T (p.Ile236Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854761T>CCA3064439BBS7c.661A>G (p.Ile221Val)
c.664A>G (p.Ile222Val)
c.709A>G (p.Ile237Val)
c.706A>G (p.Ile236Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854761T>GCA358065948BBS7c.661A>C (p.Ile221Leu)
c.664A>C (p.Ile222Leu)
c.709A>C (p.Ile237Leu)
c.706A>C (p.Ile236Leu)
4g.121854761T=CA1490025988BBS7c.661A= (p.Ile221=)
c.664A= (p.Ile222=)
c.709A= (p.Ile237=)
c.706A= (p.Ile236=)
4g.121854762C>ACA358065949BBS7c.660G>T (p.Gln220His)
c.663G>T (p.Gln221His)
c.708G>T (p.Gln236His)
c.705G>T (p.Gln235His)
4g.121854762C>GCA358065951BBS7c.660G>C (p.Gln220His)
c.663G>C (p.Gln221His)
c.708G>C (p.Gln236His)
c.705G>C (p.Gln235His)
4g.121854762C>TCA440922803BBS7c.660G>A (p.Gln220=)
c.663G>A (p.Gln221=)
c.708G>A (p.Gln236=)
c.705G>A (p.Gln235=)
4g.121854763T>ACA358065952BBS7c.659A>T (p.Gln220Leu)
c.662A>T (p.Gln221Leu)
c.707A>T (p.Gln236Leu)
c.704A>T (p.Gln235Leu)
 gnomAD v4
4g.121854763T>CCA358065953BBS7c.659A>G (p.Gln220Arg)
c.662A>G (p.Gln221Arg)
c.707A>G (p.Gln236Arg)
c.704A>G (p.Gln235Arg)
4g.121854763T>GCA358065954BBS7c.659A>C (p.Gln220Pro)
c.662A>C (p.Gln221Pro)
c.707A>C (p.Gln236Pro)
c.704A>C (p.Gln235Pro)
4g.121854764G>ACA358065956BBS7c.658C>T (p.Gln220Ter)
c.661C>T (p.Gln221Ter)
c.706C>T (p.Gln236Ter)
c.703C>T (p.Gln235Ter)
4g.121854764G>CCA358065955BBS7c.658C>G (p.Gln220Glu)
c.661C>G (p.Gln221Glu)
c.706C>G (p.Gln236Glu)
c.703C>G (p.Gln235Glu)
4g.121854764G=CA1490025989BBS7c.658C= (p.Gln220=)
c.661C= (p.Gln221=)
c.706C= (p.Gln236=)
c.703C= (p.Gln235=)
4g.121854764G>TCA104766693BBS7c.658C>A (p.Gln220Lys)
c.661C>A (p.Gln221Lys)
c.706C>A (p.Gln236Lys)
c.703C>A (p.Gln235Lys)
 dbSNP
4g.121854765T>ACA440922804BBS7c.657A>T (p.Ile219=)
c.660A>T (p.Ile220=)
c.705A>T (p.Ile235=)
c.702A>T (p.Ile234=)
4g.121854765T>CCA358065958BBS7c.657A>G (p.Ile219Met)
c.660A>G (p.Ile220Met)
c.705A>G (p.Ile235Met)
c.702A>G (p.Ile234Met)
 gnomAD v4
4g.121854765T>GCA440922805BBS7c.657A>C (p.Ile219=)
c.660A>C (p.Ile220=)
c.705A>C (p.Ile235=)
c.702A>C (p.Ile234=)
4g.121854766A=CA1490025990BBS7c.656T= (p.Ile219=)
c.659T= (p.Ile220=)
c.704T= (p.Ile235=)
c.701T= (p.Ile234=)
4g.121854766A>CCA358065960BBS7c.656T>G (p.Ile219Arg)
c.659T>G (p.Ile220Arg)
c.704T>G (p.Ile235Arg)
c.701T>G (p.Ile234Arg)
4g.121854766A>GCA358065963BBS7c.656T>C (p.Ile219Thr)
c.659T>C (p.Ile220Thr)
c.704T>C (p.Ile235Thr)
c.701T>C (p.Ile234Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.121854766A>TCA358065965BBS7c.656T>A (p.Ile219Lys)
c.659T>A (p.Ile220Lys)
c.704T>A (p.Ile235Lys)
c.701T>A (p.Ile234Lys)
4g.121854767T>ACA358065968BBS7c.655A>T (p.Ile219Leu)
c.658A>T (p.Ile220Leu)
c.703A>T (p.Ile235Leu)
c.700A>T (p.Ile234Leu)
4g.121854767T>CCA358065971BBS7c.655A>G (p.Ile219Val)
c.658A>G (p.Ile220Val)
c.703A>G (p.Ile235Val)
c.700A>G (p.Ile234Val)
 ClinVar dbSNP
4g.121854767T>GCA358065973BBS7c.655A>C (p.Ile219Leu)
c.658A>C (p.Ile220Leu)
c.703A>C (p.Ile235Leu)
c.700A>C (p.Ile234Leu)
4g.121854767dupCA554188416BBS7c.655dup (p.Ile219AsnfsTer17)
c.658dup (p.Ile220AsnfsTer17)
c.703dup (p.Ile235AsnfsTer17)
c.700dup (p.Ile234AsnfsTer17)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854768A=CA1490025991BBS7c.654T= (p.Leu218=)
c.657T= (p.Leu219=)
c.702T= (p.Leu234=)
c.699T= (p.Leu233=)
4g.121854768A>CCA440922806BBS7c.654T>G (p.Leu218=)
c.657T>G (p.Leu219=)
c.702T>G (p.Leu234=)
c.699T>G (p.Leu233=)
4g.121854768A>GCA3064440BBS7c.654T>C (p.Leu218=)
c.657T>C (p.Leu219=)
c.702T>C (p.Leu234=)
c.699T>C (p.Leu233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854768A>TCA440922807BBS7c.654T>A (p.Leu218=)
c.657T>A (p.Leu219=)
c.702T>A (p.Leu234=)
c.699T>A (p.Leu233=)
4g.121854769A=CA1490025992BBS7c.653T= (p.Leu218=)
c.656T= (p.Leu219=)
c.701T= (p.Leu234=)
c.698T= (p.Leu233=)
4g.121854769A>CCA3064441BBS7c.653T>G (p.Leu218Arg)
c.656T>G (p.Leu219Arg)
c.701T>G (p.Leu234Arg)
c.698T>G (p.Leu233Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854769A>GCA358065979BBS7c.653T>C (p.Leu218Pro)
c.656T>C (p.Leu219Pro)
c.701T>C (p.Leu234Pro)
c.698T>C (p.Leu233Pro)
4g.121854769A>TCA358065982BBS7c.653T>A (p.Leu218His)
c.656T>A (p.Leu219His)
c.701T>A (p.Leu234His)
c.698T>A (p.Leu233His)
4g.121854770G>ACA358065984BBS7c.652C>T (p.Leu218Phe)
c.655C>T (p.Leu219Phe)
c.700C>T (p.Leu234Phe)
c.697C>T (p.Leu233Phe)
 gnomAD v4
4g.121854770G>CCA358065988BBS7c.652C>G (p.Leu218Val)
c.655C>G (p.Leu219Val)
c.700C>G (p.Leu234Val)
c.697C>G (p.Leu233Val)
4g.121854770G>TCA358065983BBS7c.652C>A (p.Leu218Ile)
c.655C>A (p.Leu219Ile)
c.700C>A (p.Leu234Ile)
c.697C>A (p.Leu233Ile)
4g.121854771C>ACA440922808BBS7c.651G>T (p.Ala217=)
c.654G>T (p.Ala218=)
c.699G>T (p.Ala233=)
c.696G>T (p.Ala232=)
4g.121854771C=CA1490025993BBS7c.651G= (p.Ala217=)
c.654G= (p.Ala218=)
c.699G= (p.Ala233=)
c.696G= (p.Ala232=)
4g.121854771C>GCA440922809BBS7c.651G>C (p.Ala217=)
c.654G>C (p.Ala218=)
c.699G>C (p.Ala233=)
c.696G>C (p.Ala232=)
4g.121854771C>TCA3064442BBS7c.651G>A (p.Ala217=)
c.654G>A (p.Ala218=)
c.699G>A (p.Ala233=)
c.696G>A (p.Ala232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854772G>ACA3064443BBS7c.650C>T (p.Ala217Val)
c.653C>T (p.Ala218Val)
c.698C>T (p.Ala233Val)
c.695C>T (p.Ala232Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854772G>CCA358065996BBS7c.650C>G (p.Ala217Gly)
c.653C>G (p.Ala218Gly)
c.698C>G (p.Ala233Gly)
c.695C>G (p.Ala232Gly)
 dbSNP gnomAD v2
4g.121854772G=CA1490025994BBS7c.650C= (p.Ala217=)
c.653C= (p.Ala218=)
c.698C= (p.Ala233=)
c.695C= (p.Ala232=)
4g.121854772G>TCA3064444BBS7c.650C>A (p.Ala217Glu)
c.653C>A (p.Ala218Glu)
c.698C>A (p.Ala233Glu)
c.695C>A (p.Ala232Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854773C>ACA358065999BBS7c.649G>T (p.Ala217Ser)
c.652G>T (p.Ala218Ser)
c.697G>T (p.Ala233Ser)
c.694G>T (p.Ala232Ser)
4g.121854773C>GCA358066003BBS7c.649G>C (p.Ala217Pro)
c.652G>C (p.Ala218Pro)
c.697G>C (p.Ala233Pro)
c.694G>C (p.Ala232Pro)
4g.121854773C>TCA358066006BBS7c.649G>A (p.Ala217Thr)
c.652G>A (p.Ala218Thr)
c.697G>A (p.Ala233Thr)
c.694G>A (p.Ala232Thr)
4g.121854773dupCA10607037BBS7c.649dup (p.Ala217GlyfsTer19)
c.652dup (p.Ala218GlyfsTer19)
c.697dup (p.Ala233GlyfsTer19)
c.694dup (p.Ala232GlyfsTer19)
 ClinVar dbSNP gnomAD v4
4g.121854774A>CCA440922810BBS7c.648T>G (p.Leu216=)
c.651T>G (p.Leu217=)
c.696T>G (p.Leu232=)
c.693T>G (p.Leu231=)
4g.121854774A>GCA440922811BBS7c.648T>C (p.Leu216=)
c.651T>C (p.Leu217=)
c.696T>C (p.Leu232=)
c.693T>C (p.Leu231=)
4g.121854774A>TCA440922812BBS7c.648T>A (p.Leu216=)
c.651T>A (p.Leu217=)
c.696T>A (p.Leu232=)
c.693T>A (p.Leu231=)
4g.121854775A>CCA358066008BBS7c.647T>G (p.Leu216Arg)
c.650T>G (p.Leu217Arg)
c.695T>G (p.Leu232Arg)
c.692T>G (p.Leu231Arg)
 COSMIC
4g.121854775A>GCA358066010BBS7c.647T>C (p.Leu216Pro)
c.650T>C (p.Leu217Pro)
c.695T>C (p.Leu232Pro)
c.692T>C (p.Leu231Pro)
4g.121854775A>TCA358066012BBS7c.647T>A (p.Leu216His)
c.650T>A (p.Leu217His)
c.695T>A (p.Leu232His)
c.692T>A (p.Leu231His)
4g.121854776G>ACA358066015BBS7c.646C>T (p.Leu216Phe)
c.649C>T (p.Leu217Phe)
c.694C>T (p.Leu232Phe)
c.691C>T (p.Leu231Phe)
4g.121854776G>CCA358066023BBS7c.646C>G (p.Leu216Val)
c.649C>G (p.Leu217Val)
c.694C>G (p.Leu232Val)
c.691C>G (p.Leu231Val)
4g.121854776G>TCA358066026BBS7c.646C>A (p.Leu216Ile)
c.649C>A (p.Leu217Ile)
c.694C>A (p.Leu232Ile)
c.691C>A (p.Leu231Ile)
4g.121854777T>ACA358066028BBS7c.645A>T (p.Lys215Asn)
c.648A>T (p.Lys216Asn)
c.693A>T (p.Lys231Asn)
c.690A>T (p.Lys230Asn)
4g.121854777T>CCA440922813BBS7c.645A>G (p.Lys215=)
c.648A>G (p.Lys216=)
c.693A>G (p.Lys231=)
c.690A>G (p.Lys230=)
4g.121854777T>GCA358066031BBS7c.645A>C (p.Lys215Asn)
c.648A>C (p.Lys216Asn)
c.693A>C (p.Lys231Asn)
c.690A>C (p.Lys230Asn)
4g.121854778T>ACA358066036BBS7c.644A>T (p.Lys215Ile)
c.647A>T (p.Lys216Ile)
c.692A>T (p.Lys231Ile)
c.689A>T (p.Lys230Ile)
4g.121854778T>CCA358066035BBS7c.644A>G (p.Lys215Arg)
c.647A>G (p.Lys216Arg)
c.692A>G (p.Lys231Arg)
c.689A>G (p.Lys230Arg)
 gnomAD v4
4g.121854778T>GCA3064445BBS7c.644A>C (p.Lys215Thr)
c.647A>C (p.Lys216Thr)
c.692A>C (p.Lys231Thr)
c.689A>C (p.Lys230Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854778T=CA1490025995BBS7c.644A= (p.Lys215=)
c.647A= (p.Lys216=)
c.692A= (p.Lys231=)
c.689A= (p.Lys230=)
4g.121854779T>ACA358066039BBS7c.643A>T (p.Lys215Ter)
c.646A>T (p.Lys216Ter)
c.691A>T (p.Lys231Ter)
c.688A>T (p.Lys230Ter)
4g.121854779T>CCA358066042BBS7c.643A>G (p.Lys215Glu)
c.646A>G (p.Lys216Glu)
c.691A>G (p.Lys231Glu)
c.688A>G (p.Lys230Glu)
4g.121854779T>GCA358066044BBS7c.643A>C (p.Lys215Gln)
c.646A>C (p.Lys216Gln)
c.691A>C (p.Lys231Gln)
c.688A>C (p.Lys230Gln)
4g.121854780T>ACA440922814BBS7c.642A>T (p.Gly214=)
c.645A>T (p.Gly215=)
c.690A>T (p.Gly230=)
c.687A>T (p.Gly229=)
4g.121854780T>CCA440922815BBS7c.642A>G (p.Gly214=)
c.645A>G (p.Gly215=)
c.690A>G (p.Gly230=)
c.687A>G (p.Gly229=)
4g.121854780T>GCA440922816BBS7c.642A>C (p.Gly214=)
c.645A>C (p.Gly215=)
c.690A>C (p.Gly230=)
c.687A>C (p.Gly229=)
4g.121854781C>ACA358066046BBS7c.641G>T (p.Gly214Val)
c.644G>T (p.Gly215Val)
c.689G>T (p.Gly230Val)
c.686G>T (p.Gly229Val)
4g.121854781C>GCA358066050BBS7c.641G>C (p.Gly214Ala)
c.644G>C (p.Gly215Ala)
c.689G>C (p.Gly230Ala)
c.686G>C (p.Gly229Ala)
4g.121854781C>TCA358066053BBS7c.641G>A (p.Gly214Glu)
c.644G>A (p.Gly215Glu)
c.689G>A (p.Gly230Glu)
c.686G>A (p.Gly229Glu)
4g.121854782C>ACA358066056BBS7c.640G>T (p.Gly214Ter)
c.643G>T (p.Gly215Ter)
c.688G>T (p.Gly230Ter)
c.685G>T (p.Gly229Ter)
4g.121854782C=CA1490025996BBS7c.640G= (p.Gly214=)
c.643G= (p.Gly215=)
c.688G= (p.Gly230=)
c.685G= (p.Gly229=)
4g.121854782C>GCA358066059BBS7c.640G>C (p.Gly214Arg)
c.643G>C (p.Gly215Arg)
c.688G>C (p.Gly230Arg)
c.685G>C (p.Gly229Arg)
 ClinVar
4g.121854782C>TCA358066067BBS7c.640G>A (p.Gly214Arg)
c.643G>A (p.Gly215Arg)
c.688G>A (p.Gly230Arg)
c.685G>A (p.Gly229Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854783G>ACA3064446BBS7c.639C>T (p.Asp213=)
c.642C>T (p.Asp214=)
c.687C>T (p.Asp229=)
c.684C>T (p.Asp228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854783G>CCA358066074BBS7c.639C>G (p.Asp213Glu)
c.642C>G (p.Asp214Glu)
c.687C>G (p.Asp229Glu)
c.684C>G (p.Asp228Glu)
4g.121854783G=CA1490025997BBS7c.639C= (p.Asp213=)
c.642C= (p.Asp214=)
c.687C= (p.Asp229=)
c.684C= (p.Asp228=)
4g.121854783G>TCA358066077BBS7c.639C>A (p.Asp213Glu)
c.642C>A (p.Asp214Glu)
c.687C>A (p.Asp229Glu)
c.684C>A (p.Asp228Glu)
4g.121854784T>ACA358066088BBS7c.638A>T (p.Asp213Val)
c.641A>T (p.Asp214Val)
c.686A>T (p.Asp229Val)
c.683A>T (p.Asp228Val)
4g.121854784T>CCA358066086BBS7c.638A>G (p.Asp213Gly)
c.641A>G (p.Asp214Gly)
c.686A>G (p.Asp229Gly)
c.683A>G (p.Asp228Gly)
 gnomAD v4
4g.121854784T>GCA358066085BBS7c.638A>C (p.Asp213Ala)
c.641A>C (p.Asp214Ala)
c.686A>C (p.Asp229Ala)
c.683A>C (p.Asp228Ala)
4g.121854785C>ACA358066090BBS7c.637G>T (p.Asp213Tyr)
c.640G>T (p.Asp214Tyr)
c.685G>T (p.Asp229Tyr)
c.682G>T (p.Asp228Tyr)
4g.121854785C>GCA358066093BBS7c.637G>C (p.Asp213His)
c.640G>C (p.Asp214His)
c.685G>C (p.Asp229His)
c.682G>C (p.Asp228His)
4g.121854785C>TCA358066096BBS7c.637G>A (p.Asp213Asn)
c.640G>A (p.Asp214Asn)
c.685G>A (p.Asp229Asn)
c.682G>A (p.Asp228Asn)
 gnomAD v4
4g.121854786T>ACA440922817BBS7c.636A>T (p.Ser212=)
c.639A>T (p.Ser213=)
c.684A>T (p.Ser228=)
c.681A>T (p.Ser227=)
 gnomAD v4
4g.121854786T>CCA440922818BBS7c.636A>G (p.Ser212=)
c.639A>G (p.Ser213=)
c.684A>G (p.Ser228=)
c.681A>G (p.Ser227=)
4g.121854786T>GCA440922819BBS7c.636A>C (p.Ser212=)
c.639A>C (p.Ser213=)
c.684A>C (p.Ser228=)
c.681A>C (p.Ser227=)
4g.121854787G>ACA358066099BBS7c.635C>T (p.Ser212Leu)
c.638C>T (p.Ser213Leu)
c.683C>T (p.Ser228Leu)
c.680C>T (p.Ser227Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854787G>CCA3064447BBS7c.635C>G (p.Ser212Ter)
c.638C>G (p.Ser213Ter)
c.683C>G (p.Ser228Ter)
c.680C>G (p.Ser227Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854787G=CA1490025998BBS7c.635C= (p.Ser212=)
c.638C= (p.Ser213=)
c.683C= (p.Ser228=)
c.680C= (p.Ser227=)
4g.121854787G>TCA358066103BBS7c.635C>A (p.Ser212Ter)
c.638C>A (p.Ser213Ter)
c.683C>A (p.Ser228Ter)
c.680C>A (p.Ser227Ter)
4g.121854788A>CCA358066106BBS7c.634T>G (p.Ser212Ala)
c.637T>G (p.Ser213Ala)
c.682T>G (p.Ser228Ala)
c.679T>G (p.Ser227Ala)
4g.121854788A>GCA358066109BBS7c.634T>C (p.Ser212Pro)
c.637T>C (p.Ser213Pro)
c.682T>C (p.Ser228Pro)
c.679T>C (p.Ser227Pro)
4g.121854788A>TCA358066112BBS7c.634T>A (p.Ser212Thr)
c.637T>A (p.Ser213Thr)
c.682T>A (p.Ser228Thr)
c.679T>A (p.Ser227Thr)
4g.121854789T>ACA440922820BBS7c.633A>T (p.Thr211=)
c.636A>T (p.Thr212=)
c.681A>T (p.Thr227=)
c.678A>T (p.Thr226=)
4g.121854789T>CCA440922821BBS7c.633A>G (p.Thr211=)
c.636A>G (p.Thr212=)
c.681A>G (p.Thr227=)
c.678A>G (p.Thr226=)
 ClinVar dbSNP gnomAD v4
4g.121854789T>GCA440922822BBS7c.633A>C (p.Thr211=)
c.636A>C (p.Thr212=)
c.681A>C (p.Thr227=)
c.678A>C (p.Thr226=)
4g.121854789T=CA1490025999BBS7c.633A= (p.Thr211=)
c.636A= (p.Thr212=)
c.681A= (p.Thr227=)
c.678A= (p.Thr226=)
4g.121854790G>ACA252534BBS7c.632C>T (p.Thr211Ile)
c.635C>T (p.Thr212Ile)
c.680C>T (p.Thr227Ile)
c.677C>T (p.Thr226Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.121854790G>CCA358066119BBS7c.632C>G (p.Thr211Arg)
c.635C>G (p.Thr212Arg)
c.680C>G (p.Thr227Arg)
c.677C>G (p.Thr226Arg)
 ClinVar dbSNP
4g.121854790G=CA1490026000BBS7c.632C= (p.Thr211=)
c.635C= (p.Thr212=)
c.680C= (p.Thr227=)
c.677C= (p.Thr226=)
4g.121854790G>TCA358066122BBS7c.632C>A (p.Thr211Lys)
c.635C>A (p.Thr212Lys)
c.680C>A (p.Thr227Lys)
c.677C>A (p.Thr226Lys)
4g.121854791T>ACA358066126BBS7c.631A>T (p.Thr211Ser)
c.634A>T (p.Thr212Ser)
c.679A>T (p.Thr227Ser)
c.676A>T (p.Thr226Ser)
 gnomAD v4
4g.121854791T>CCA358066130BBS7c.631A>G (p.Thr211Ala)
c.634A>G (p.Thr212Ala)
c.679A>G (p.Thr227Ala)
c.676A>G (p.Thr226Ala)
 dbSNP gnomAD v4
4g.121854791T>GCA358066125BBS7c.631A>C (p.Thr211Pro)
c.634A>C (p.Thr212Pro)
c.679A>C (p.Thr227Pro)
c.676A>C (p.Thr226Pro)
4g.121854791T=CA1490026001BBS7c.631A= (p.Thr211=)
c.634A= (p.Thr212=)
c.679A= (p.Thr227=)
c.676A= (p.Thr226=)
4g.121854792C>ACA440922825BBS7c.630G>T (p.Gly210=)
c.633G>T (p.Gly211=)
c.678G>T (p.Gly226=)
c.675G>T (p.Gly225=)
4g.121854792C>GCA440922824BBS7c.630G>C (p.Gly210=)
c.633G>C (p.Gly211=)
c.678G>C (p.Gly226=)
c.675G>C (p.Gly225=)
4g.121854792C>TCA440922823BBS7c.630G>A (p.Gly210=)
c.633G>A (p.Gly211=)
c.678G>A (p.Gly226=)
c.675G>A (p.Gly225=)
 gnomAD v4
4g.121854793C>ACA358066133BBS7c.629G>T (p.Gly210Val)
c.632G>T (p.Gly211Val)
c.677G>T (p.Gly226Val)
c.674G>T (p.Gly225Val)
4g.121854793C>GCA358066136BBS7c.629G>C (p.Gly210Ala)
c.632G>C (p.Gly211Ala)
c.677G>C (p.Gly226Ala)
c.674G>C (p.Gly225Ala)
4g.121854793C>TCA358066139BBS7c.629G>A (p.Gly210Glu)
c.632G>A (p.Gly211Glu)
c.677G>A (p.Gly226Glu)
c.674G>A (p.Gly225Glu)
 gnomAD v4
4g.121854794C>ACA358066141BBS7c.628G>T (p.Gly210Trp)
c.631G>T (p.Gly211Trp)
c.676G>T (p.Gly226Trp)
c.673G>T (p.Gly225Trp)
4g.121854794C>GCA358066142BBS7c.628G>C (p.Gly210Arg)
c.631G>C (p.Gly211Arg)
c.676G>C (p.Gly226Arg)
c.673G>C (p.Gly225Arg)
4g.121854794C>TCA358066143BBS7c.628G>A (p.Gly210Arg)
c.631G>A (p.Gly211Arg)
c.676G>A (p.Gly226Arg)
c.673G>A (p.Gly225Arg)
4g.121854795A>CCA358066144BBS7c.627T>G (p.Phe209Leu)
c.630T>G (p.Phe210Leu)
c.675T>G (p.Phe225Leu)
c.672T>G (p.Phe224Leu)
4g.121854795A>GCA440922826BBS7c.627T>C (p.Phe209=)
c.630T>C (p.Phe210=)
c.675T>C (p.Phe225=)
c.672T>C (p.Phe224=)
 ClinVar dbSNP gnomAD v4
4g.121854795A>TCA358066145BBS7c.627T>A (p.Phe209Leu)
c.630T>A (p.Phe210Leu)
c.675T>A (p.Phe225Leu)
c.672T>A (p.Phe224Leu)
4g.121854796A=CA1490026002BBS7c.626T= (p.Phe209=)
c.629T= (p.Phe210=)
c.674T= (p.Phe225=)
c.671T= (p.Phe224=)
4g.121854796A>CCA358066146BBS7c.626T>G (p.Phe209Cys)
c.629T>G (p.Phe210Cys)
c.674T>G (p.Phe225Cys)
c.671T>G (p.Phe224Cys)
4g.121854796A>GCA358066147BBS7c.626T>C (p.Phe209Ser)
c.629T>C (p.Phe210Ser)
c.674T>C (p.Phe225Ser)
c.671T>C (p.Phe224Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.121854796A>TCA358066148BBS7c.626T>A (p.Phe209Tyr)
c.629T>A (p.Phe210Tyr)
c.674T>A (p.Phe225Tyr)
c.671T>A (p.Phe224Tyr)
4g.121854797A>CCA358066151BBS7c.625T>G (p.Phe209Val)
c.628T>G (p.Phe210Val)
c.673T>G (p.Phe225Val)
c.670T>G (p.Phe224Val)
4g.121854797A>GCA358066152BBS7c.625T>C (p.Phe209Leu)
c.628T>C (p.Phe210Leu)
c.673T>C (p.Phe225Leu)
c.670T>C (p.Phe224Leu)
4g.121854797A>TCA358066156BBS7c.625T>A (p.Phe209Ile)
c.628T>A (p.Phe210Ile)
c.673T>A (p.Phe225Ile)
c.670T>A (p.Phe224Ile)
4g.121854798C>ACA104766712BBS7c.624G>T (p.Leu208Phe)
c.627G>T (p.Leu209Phe)
c.672G>T (p.Leu224Phe)
c.669G>T (p.Leu223Phe)
 dbSNP
4g.121854798C=CA1490026003BBS7c.624G= (p.Leu208=)
c.627G= (p.Leu209=)
c.672G= (p.Leu224=)
c.669G= (p.Leu223=)
4g.121854798C>GCA358066159BBS7c.624G>C (p.Leu208Phe)
c.627G>C (p.Leu209Phe)
c.672G>C (p.Leu224Phe)
c.669G>C (p.Leu223Phe)
4g.121854798C>TCA440922827BBS7c.624G>A (p.Leu208=)
c.627G>A (p.Leu209=)
c.672G>A (p.Leu224=)
c.669G>A (p.Leu223=)
4g.121854799A=CA1490026004BBS7c.623T= (p.Leu208=)
c.626T= (p.Leu209=)
c.671T= (p.Leu224=)
c.668T= (p.Leu223=)
4g.121854799A>CCA3064448BBS7c.623T>G (p.Leu208Trp)
c.626T>G (p.Leu209Trp)
c.671T>G (p.Leu224Trp)
c.668T>G (p.Leu223Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854799A>GCA358066165BBS7c.623T>C (p.Leu208Ser)
c.626T>C (p.Leu209Ser)
c.671T>C (p.Leu224Ser)
c.668T>C (p.Leu223Ser)
 gnomAD v4
4g.121854799A>TCA358066166BBS7c.623T>A (p.Leu208Ter)
c.626T>A (p.Leu209Ter)
c.671T>A (p.Leu224Ter)
c.668T>A (p.Leu223Ter)
4g.121854799_121854800insCACCCA2763339217BBS7c.622_623insGGTG (p.Leu208TrpfsTer29)
c.625_626insGGTG (p.Leu209TrpfsTer29)
c.670_671insGGTG (p.Leu224TrpfsTer29)
c.667_668insGGTG (p.Leu223TrpfsTer29)
4g.121854799_121854800insCACCCAACACCA2763339218BBS7c.622_623insGTGTTGGGTG (p.Leu208CysfsTer31)
c.625_626insGTGTTGGGTG (p.Leu209CysfsTer31)
c.670_671insGTGTTGGGTG (p.Leu224CysfsTer31)
c.667_668insGTGTTGGGTG (p.Leu223CysfsTer31)
4g.121854800A>CCA358066168BBS7c.622T>G (p.Leu208Val)
c.625T>G (p.Leu209Val)
c.670T>G (p.Leu224Val)
c.667T>G (p.Leu223Val)
4g.121854800A>GCA440922828BBS7c.622T>C (p.Leu208=)
c.625T>C (p.Leu209=)
c.670T>C (p.Leu224=)
c.667T>C (p.Leu223=)
4g.121854800A>TCA358066171BBS7c.622T>A (p.Leu208Met)
c.625T>A (p.Leu209Met)
c.670T>A (p.Leu224Met)
c.667T>A (p.Leu223Met)
4g.121854801A>CCA440922829BBS7c.621T>G (p.Leu207=)
c.624T>G (p.Leu208=)
c.669T>G (p.Leu223=)
c.666T>G (p.Leu222=)
4g.121854801A>GCA440922830BBS7c.621T>C (p.Leu207=)
c.624T>C (p.Leu208=)
c.669T>C (p.Leu223=)
c.666T>C (p.Leu222=)
 gnomAD v4
4g.121854801A>TCA440922831BBS7c.621T>A (p.Leu207=)
c.624T>A (p.Leu208=)
c.669T>A (p.Leu223=)
c.666T>A (p.Leu222=)
4g.121854802A>CCA358066172BBS7c.620T>G (p.Leu207Arg)
c.623T>G (p.Leu208Arg)
c.668T>G (p.Leu223Arg)
c.665T>G (p.Leu222Arg)
4g.121854802A>GCA358066174BBS7c.620T>C (p.Leu207Pro)
c.623T>C (p.Leu208Pro)
c.668T>C (p.Leu223Pro)
c.665T>C (p.Leu222Pro)
4g.121854802A>TCA358066175BBS7c.620T>A (p.Leu207His)
c.623T>A (p.Leu208His)
c.668T>A (p.Leu223His)
c.665T>A (p.Leu222His)
4g.121854802_121854803delinsAGCA1490026005BBS7c.619_620delinsCT (p.Leu207=)
c.622_623delinsCT (p.Leu208=)
c.667_668delinsCT (p.Leu223=)
c.664_665delinsCT (p.Leu222=)
4g.121854803G>ACA3064449BBS7c.619C>T (p.Leu207Phe)
c.622C>T (p.Leu208Phe)
c.667C>T (p.Leu223Phe)
c.664C>T (p.Leu222Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854803G>CCA358066178BBS7c.619C>G (p.Leu207Val)
c.622C>G (p.Leu208Val)
c.667C>G (p.Leu223Val)
c.664C>G (p.Leu222Val)
 gnomAD v4
4g.121854803G=CA1490026007BBS7c.619C= (p.Leu207=)
c.622C= (p.Leu208=)
c.667C= (p.Leu223=)
c.664C= (p.Leu222=)
4g.121854803G>TCA358066183BBS7c.619C>A (p.Leu207Ile)
c.622C>A (p.Leu208Ile)
c.667C>A (p.Leu223Ile)
c.664C>A (p.Leu222Ile)
4g.121854804delCA1490026006BBS7c.619del (p.Leu207PhefsTer?)
c.622del (p.Leu208PhefsTer?)
c.667del (p.Leu223PhefsTer?)
c.664del (p.Leu222PhefsTer?)
4g.121854804G>ACA440922832BBS7c.618C>T (p.Asp206=)
c.621C>T (p.Asp207=)
c.666C>T (p.Asp222=)
c.663C>T (p.Asp221=)
 ClinVar dbSNP gnomAD v4
4g.121854804G>CCA358066190BBS7c.618C>G (p.Asp206Glu)
c.621C>G (p.Asp207Glu)
c.666C>G (p.Asp222Glu)
c.663C>G (p.Asp221Glu)
4g.121854804G=CA1490026008BBS7c.618C= (p.Asp206=)
c.621C= (p.Asp207=)
c.666C= (p.Asp222=)
c.663C= (p.Asp221=)
4g.121854804G>TCA358066193BBS7c.618C>A (p.Asp206Glu)
c.621C>A (p.Asp207Glu)
c.666C>A (p.Asp222Glu)
c.663C>A (p.Asp221Glu)
4g.121854805T>ACA358066200BBS7c.617A>T (p.Asp206Val)
c.620A>T (p.Asp207Val)
c.665A>T (p.Asp222Val)
c.662A>T (p.Asp221Val)
4g.121854805T>CCA358066197BBS7c.617A>G (p.Asp206Gly)
c.620A>G (p.Asp207Gly)
c.665A>G (p.Asp222Gly)
c.662A>G (p.Asp221Gly)
4g.121854805T>GCA3064450BBS7c.617A>C (p.Asp206Ala)
c.620A>C (p.Asp207Ala)
c.665A>C (p.Asp222Ala)
c.662A>C (p.Asp221Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.121854805T=CA1490026009BBS7c.617A= (p.Asp206=)
c.620A= (p.Asp207=)
c.665A= (p.Asp222=)
c.662A= (p.Asp221=)
4g.121854806C>ACA358066204BBS7c.616G>T (p.Asp206Tyr)
c.619G>T (p.Asp207Tyr)
c.664G>T (p.Asp222Tyr)
c.661G>T (p.Asp221Tyr)
 gnomAD v4
4g.121854806C>GCA358066206BBS7c.616G>C (p.Asp206His)
c.619G>C (p.Asp207His)
c.664G>C (p.Asp222His)
c.661G>C (p.Asp221His)
4g.121854806C>TCA358066209BBS7c.616G>A (p.Asp206Asn)
c.619G>A (p.Asp207Asn)
c.664G>A (p.Asp222Asn)
c.661G>A (p.Asp221Asn)
4g.121854807T>ACA358066211BBS7c.615A>T (p.Glu205Asp)
c.618A>T (p.Glu206Asp)
c.663A>T (p.Glu221Asp)
c.660A>T (p.Glu220Asp)
4g.121854807T>CCA440922833BBS7c.615A>G (p.Glu205=)
c.618A>G (p.Glu206=)
c.663A>G (p.Glu221=)
c.660A>G (p.Glu220=)
4g.121854807T>GCA358066219BBS7c.615A>C (p.Glu205Asp)
c.618A>C (p.Glu206Asp)
c.663A>C (p.Glu221Asp)
c.660A>C (p.Glu220Asp)
4g.121854807_121854809delinsTTCCA1490026010BBS7c.613_615delinsGAA (p.Glu205=)
c.616_618delinsGAA (p.Glu206=)
c.661_663delinsGAA (p.Glu221=)
c.658_660delinsGAA (p.Glu220=)
4g.121854808T>ACA358066222BBS7c.614A>T (p.Glu205Val)
c.617A>T (p.Glu206Val)
c.662A>T (p.Glu221Val)
c.659A>T (p.Glu220Val)
4g.121854808T>CCA358066226BBS7c.614A>G (p.Glu205Gly)
c.617A>G (p.Glu206Gly)
c.662A>G (p.Glu221Gly)
c.659A>G (p.Glu220Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.121854808T>GCA358066229BBS7c.614A>C (p.Glu205Ala)
c.617A>C (p.Glu206Ala)
c.662A>C (p.Glu221Ala)
c.659A>C (p.Glu220Ala)
4g.121854808T=CA1490026011BBS7c.614A= (p.Glu205=)
c.617A= (p.Glu206=)
c.662A= (p.Glu221=)
c.659A= (p.Glu220=)
4g.121854810_121854811delCA554188417BBS7c.613_614del (p.Glu205ArgfsTer30)
c.616_617del (p.Glu206ArgfsTer30)
c.661_662del (p.Glu221ArgfsTer30)
c.658_659del (p.Glu220ArgfsTer30)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.121854809C>ACA358066233BBS7c.613G>T (p.Glu205Ter)
c.616G>T (p.Glu206Ter)
c.661G>T (p.Glu221Ter)
c.658G>T (p.Glu220Ter)
4g.121854809C>GCA358066234BBS7c.613G>C (p.Glu205Gln)
c.616G>C (p.Glu206Gln)
c.661G>C (p.Glu221Gln)
c.658G>C (p.Glu220Gln)
4g.121854809C>TCA358066238BBS7c.613G>A (p.Glu205Lys)
c.616G>A (p.Glu206Lys)
c.661G>A (p.Glu221Lys)
c.658G>A (p.Glu220Lys)

Number of alleles fetched