Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219057503_219057531delCA2586971358IHHc.482_510del (p.Asn161SerfsTer6)
2g.219057524C>ACA350634517IHHc.486G>T (p.Lys162Asn)
dbSNP gnomAD v2 gnomAD v4
2g.219057524C=CA1329041072IHHc.486G= (p.Lys162=)
2g.219057524C>GCA350634521IHHc.486G>C (p.Lys162Asn)
2g.219057524C>TCA431262140IHHc.486G>A (p.Lys162=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.219057525T>ACA350634529IHHc.485A>T (p.Lys162Met)
2g.219057525T>CCA350634533IHHc.485A>G (p.Lys162Arg)
2g.219057525T>GCA350634524IHHc.485A>C (p.Lys162Thr)
2g.219057527_219057529delCA2663194506IHHc.483_485del (p.Asn161del)
gnomAD v4
2g.219057526T>ACA350634537IHHc.484A>T (p.Lys162Ter)
2g.219057526T>CCA350634547IHHc.484A>G (p.Lys162Glu)
ClinVar dbSNP
2g.219057526T>GCA350634540IHHc.484A>C (p.Lys162Gln)
2g.219057526T=CA1329041074IHHc.484A= (p.Lys162=)
2g.219057527A=CA1329041076IHHc.483T= (p.Asn161=)
2g.219057527A>CCA350634549IHHc.483T>G (p.Asn161Lys)
2g.219057527A>GCA431262141IHHc.483T>C (p.Asn161=)
dbSNP gnomAD v2 gnomAD v4
2g.219057527A>TCA350634552IHHc.483T>A (p.Asn161Lys)
2g.219057528T>ACA350634556IHHc.482A>T (p.Asn161Ile)
2g.219057528T>CCA350634558IHHc.482A>G (p.Asn161Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219057528T>GCA350634562IHHc.482A>C (p.Asn161Thr)
gnomAD v4
2g.219057528T=CA1329041078IHHc.482A= (p.Asn161=)
2g.219057529T>ACA350634565IHHc.481A>T (p.Asn161Tyr)
2g.219057529T>CCA350634568IHHc.481A>G (p.Asn161Asp)
2g.219057529T>GCA65949280IHHc.481A>C (p.Asn161His)
dbSNP gnomAD v2 gnomAD v4
2g.219057529T=CA1329041080IHHc.481A= (p.Asn161=)
2g.219057530G>ACA431262142IHHc.480C>T (p.Arg160=)
2g.219057530G>CCA431262143IHHc.480C>G (p.Arg160=)
2g.219057530G>TCA431262144IHHc.480C>A (p.Arg160=)
2g.219057531C>ACA350634574IHHc.479G>T (p.Arg160Leu)
dbSNP
2g.219057531C=CA1329041083IHHc.479G= (p.Arg160=)
2g.219057531C>GCA350634577IHHc.479G>C (p.Arg160Pro)
2g.219057531C>TCA350634581IHHc.479G>A (p.Arg160His)
2g.219057532G>ACA350634584IHHc.478C>T (p.Arg160Cys)
ClinVar dbSNP
2g.219057532G>CCA350634586IHHc.478C>G (p.Arg160Gly)
2g.219057532G=CA1329041085IHHc.478C= (p.Arg160=)
2g.219057532G>TCA350634587IHHc.478C>A (p.Arg160Ser)
ClinVar dbSNP gnomAD v4
2g.219057533G>ACA431262145IHHc.477C>T (p.Asp159=)
2g.219057533G>CCA350634594IHHc.477C>G (p.Asp159Glu)
2g.219057533G>TCA350634591IHHc.477C>A (p.Asp159Glu)
2g.219057534T>ACA350634603IHHc.476A>T (p.Asp159Val)
2g.219057534T>CCA350634604IHHc.476A>G (p.Asp159Gly)
2g.219057534T>GCA350634610IHHc.476A>C (p.Asp159Ala)
2g.219057535C>ACA350634613IHHc.475G>T (p.Asp159Tyr)
2g.219057535C>GCA350634615IHHc.475G>C (p.Asp159His)
2g.219057535C>TCA350634617IHHc.475G>A (p.Asp159Asn)
gnomAD v4
2g.219057536G>ACA65949286IHHc.474C>T (p.Arg158=)
dbSNP gnomAD v4
2g.219057536G>CCA431262146IHHc.474C>G (p.Arg158=)
2g.219057536G=CA1329041088IHHc.474C= (p.Arg158=)
2g.219057536G>TCA431262147IHHc.474C>A (p.Arg158=)
2g.219057537C>ACA350634625IHHc.473G>T (p.Arg158Leu)
2g.219057537C>GCA350634627IHHc.473G>C (p.Arg158Pro)
2g.219057537C>TCA350634630IHHc.473G>A (p.Arg158His)
gnomAD v4
2g.219057538G>ACA350634634IHHc.472C>T (p.Arg158Cys)
ClinVar
2g.219057538G>CCA350634637IHHc.472C>G (p.Arg158Gly)
2g.219057538G>TCA350634640IHHc.472C>A (p.Arg158Ser)
gnomAD v4
2g.219057539G>ACA431262171IHHc.471C>T (p.Asp157=)
2g.219057539G>CCA350635173IHHc.471C>G (p.Asp157Glu)
2g.219057539G>TCA350635177IHHc.471C>A (p.Asp157Glu)
2g.219057540T>ACA350635178IHHc.470A>T (p.Asp157Val)
2g.219057540T>CCA350635180IHHc.470A>G (p.Asp157Gly)
gnomAD v4
2g.219057540T>GCA350635183IHHc.470A>C (p.Asp157Ala)
2g.219057541C>ACA350635193IHHc.469G>T (p.Asp157Tyr)
2g.219057541C>GCA350635201IHHc.469G>C (p.Asp157His)
2g.219057541C>TCA350635204IHHc.469G>A (p.Asp157Asn)
2g.219057542T>ACA431262178IHHc.468A>T (p.Ser156=)
2g.219057542T>CCA431262175IHHc.468A>G (p.Ser156=)
2g.219057542T>GCA431262177IHHc.468A>C (p.Ser156=)
2g.219057543G>ACA350635207IHHc.467C>T (p.Ser156Leu)
2g.219057543G>CCA350635210IHHc.467C>G (p.Ser156Ter)
gnomAD v4
2g.219057543G>TCA350635211IHHc.467C>A (p.Ser156Ter)
2g.219057544A>CCA350635215IHHc.466T>G (p.Ser156Ala)
2g.219057544A>GCA350635216IHHc.466T>C (p.Ser156Pro)
2g.219057544A>TCA350635218IHHc.466T>A (p.Ser156Thr)
2g.219057545T>ACA431262180IHHc.465A>T (p.Thr155=)
2g.219057545T>CCA431262181IHHc.465A>G (p.Thr155=)
dbSNP gnomAD v3 gnomAD v4
2g.219057545T>GCA431262183IHHc.465A>C (p.Thr155=)
dbSNP gnomAD v2 gnomAD v4
2g.219057545T=CA1329041090IHHc.465A= (p.Thr155=)
2g.219057546G>ACA350635227IHHc.464C>T (p.Thr155Ile)
2g.219057546G>CCA350635222IHHc.464C>G (p.Thr155Arg)
2g.219057546G>TCA350635224IHHc.464C>A (p.Thr155Lys)
2g.219057549_219057551delCA2739292331IHHc.462_464del (p.Thr155del)
2g.219057547T>ACA350635229IHHc.463A>T (p.Thr155Ser)
2g.219057547T>CCA350635230IHHc.463A>G (p.Thr155Ala)
2g.219057547T>GCA350635232IHHc.463A>C (p.Thr155Pro)
2g.219057548G>ACA431262186IHHc.462C>T (p.Thr154=)
2g.219057548G>CCA431262185IHHc.462C>G (p.Thr154=)
2g.219057548G>TCA431262187IHHc.462C>A (p.Thr154=)
2g.219057549G>ACA119981IHHc.461C>T (p.Thr154Ile)
ClinVar dbSNP
2g.219057549G>CCA350635235IHHc.461C>G (p.Thr154Ser)
2g.219057549G=CA1329041093IHHc.461C= (p.Thr154=)
2g.219057549G>TCA350635238IHHc.461C>A (p.Thr154Asn)
2g.219057550T>ACA350635239IHHc.460A>T (p.Thr154Ser)
2g.219057550T>CCA350635242IHHc.460A>G (p.Thr154Ala)
gnomAD v4
2g.219057550T>GCA350635244IHHc.460A>C (p.Thr154Pro)
dbSNP
2g.219057550T=CA1329041096IHHc.460A= (p.Thr154=)
2g.219057551G>ACA431262189IHHc.459C>T (p.Ile153=)
2g.219057551G>CCA350635246IHHc.459C>G (p.Ile153Met)
2g.219057551G=CA1329041098IHHc.459C= (p.Ile153=)
2g.219057551G>TCA2116695IHHc.459C>A (p.Ile153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219057552A>CCA350635256IHHc.458T>G (p.Ile153Ser)
2g.219057552A>GCA350635254IHHc.458T>C (p.Ile153Thr)
2g.219057552A>TCA350635252IHHc.458T>A (p.Ile153Asn)
2g.219057553T>ACA350635259IHHc.457A>T (p.Ile153Phe)
2g.219057553T>CCA350635262IHHc.457A>G (p.Ile153Val)
dbSNP gnomAD v2 gnomAD v4
2g.219057553T>GCA350635261IHHc.457A>C (p.Ile153Leu)
2g.219057553T=CA1329041100IHHc.457A= (p.Ile153=)
2g.219057554G>ACA431262191IHHc.456C>T (p.Asp152=)
gnomAD v4
2g.219057554G>CCA350635264IHHc.456C>G (p.Asp152Glu)
2g.219057554G>TCA350635267IHHc.456C>A (p.Asp152Glu)
2g.219057555T>ACA350635268IHHc.455A>T (p.Asp152Val)
2g.219057555T>CCA350635270IHHc.455A>G (p.Asp152Gly)
2g.219057555T>GCA350635273IHHc.455A>C (p.Asp152Ala)
2g.219057556C>ACA350635277IHHc.454G>T (p.Asp152Tyr)
COSMIC
2g.219057556C>GCA350635280IHHc.454G>C (p.Asp152His)
2g.219057556C>TCA350635282IHHc.454G>A (p.Asp152Asn)
2g.219057557C>ACA431262193IHHc.453G>T (p.Val151=)
2g.219057557C>GCA431262194IHHc.453G>C (p.Val151=)
2g.219057557C>TCA431262195IHHc.453G>A (p.Val151=)
2g.219057558A>CCA350635284IHHc.452T>G (p.Val151Gly)
2g.219057558A>GCA350635287IHHc.452T>C (p.Val151Ala)
2g.219057558A>TCA350635289IHHc.452T>A (p.Val151Glu)
2g.219057559C>ACA350635297IHHc.451G>T (p.Val151Leu)
2g.219057559C>GCA350635293IHHc.451G>C (p.Val151Leu)
2g.219057559C>TCA350635296IHHc.451G>A (p.Val151Met)
2g.219057560C>ACA431262197IHHc.450G>T (p.Ala150=)
2g.219057560C>GCA431262198IHHc.450G>C (p.Ala150=)
2g.219057560C>TCA431262199IHHc.450G>A (p.Ala150=)
2g.219057561G>ACA350635299IHHc.449C>T (p.Ala150Val)
gnomAD v4
2g.219057561G>CCA350635302IHHc.449C>G (p.Ala150Gly)
2g.219057561G>TCA350635303IHHc.449C>A (p.Ala150Glu)
2g.219057562C>ACA350635306IHHc.448G>T (p.Ala150Ser)
dbSNP
2g.219057562C=CA1329041102IHHc.448G= (p.Ala150=)
2g.219057562C>GCA350635308IHHc.448G>C (p.Ala150Pro)
2g.219057562C>TCA350635310IHHc.448G>A (p.Ala150Thr)
ClinVar dbSNP
2g.219057563G>ACA2116696IHHc.447C>T (p.Arg149=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219057563G>CCA431262203IHHc.447C>G (p.Arg149=)
2g.219057563G=CA1329041106IHHc.447C= (p.Arg149=)
2g.219057563G>TCA431262204IHHc.447C>A (p.Arg149=)
2g.219057564C>ACA350635314IHHc.446G>T (p.Arg149Leu)
2g.219057564C>GCA350635316IHHc.446G>C (p.Arg149Pro)
2g.219057564C>TCA350635318IHHc.446G>A (p.Arg149His)
2g.219057565G>ACA350635324IHHc.445C>T (p.Arg149Cys)
COSMIC
2g.219057565G>CCA350635326IHHc.445C>G (p.Arg149Gly)
2g.219057565G>TCA350635322IHHc.445C>A (p.Arg149Ser)
2g.219057566G>ACA2116697IHHc.444C>T (p.Gly148=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219057566G>CCA431262206IHHc.444C>G (p.Gly148=)
2g.219057566G=CA1329041107IHHc.444C= (p.Gly148=)
2g.219057566G>TCA431262207IHHc.444C>A (p.Gly148=)
2g.219057566_219057567delinsGCCA1329041108IHHc.443_444delinsGC (p.Gly148=)
2g.219057567C>ACA350635329IHHc.443G>T (p.Gly148Val)
2g.219057567C>GCA350635332IHHc.443G>C (p.Gly148Ala)
2g.219057567C>TCA350635334IHHc.443G>A (p.Gly148Asp)
2g.219057569delCA1042493217IHHc.443del (p.Gly148AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
2g.219057568C>ACA350635335IHHc.442G>T (p.Gly148Cys)
2g.219057568C>GCA350635336IHHc.442G>C (p.Gly148Arg)
2g.219057568C>TCA350635338IHHc.442G>A (p.Gly148Ser)
2g.219057569C>ACA350635340IHHc.441G>T (p.Glu147Asp)
2g.219057569C>GCA350635341IHHc.441G>C (p.Glu147Asp)
2g.219057569C>TCA431262208IHHc.441G>A (p.Glu147=)
2g.219057570T>ACA350635344IHHc.440A>T (p.Glu147Val)
2g.219057570T>CCA350635347IHHc.440A>G (p.Glu147Gly)
2g.219057570T>GCA350635348IHHc.440A>C (p.Glu147Ala)
2g.219057570T=CA1329041110IHHc.440A= (p.Glu147=)
2g.219057571C>ACA350635352IHHc.439G>T (p.Glu147Ter)
2g.219057571C>GCA350635353IHHc.439G>C (p.Glu147Gln)
2g.219057571C>TCA350635351IHHc.439G>A (p.Glu147Lys)
2g.219057571dupCA764944221IHHc.439dup (p.Glu147GlyfsTer16)
dbSNP
2g.219057572A=CA1329041113IHHc.438T= (p.Tyr146=)
2g.219057572A>CCA350635356IHHc.438T>G (p.Tyr146Ter)
2g.219057572A>GCA2116698IHHc.438T>C (p.Tyr146=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219057572A>TCA350635359IHHc.438T>A (p.Tyr146Ter)
2g.219057573T>ACA350635361IHHc.437A>T (p.Tyr146Phe)
2g.219057573T>CCA350635363IHHc.437A>G (p.Tyr146Cys)
2g.219057573T>GCA350635364IHHc.437A>C (p.Tyr146Ser)
2g.219057574A>CCA350635367IHHc.436T>G (p.Tyr146Asp)
2g.219057574A>GCA350635372IHHc.436T>C (p.Tyr146His)
2g.219057574A>TCA350635369IHHc.436T>A (p.Tyr146Asn)
2g.219057575A>CCA350635376IHHc.435T>G (p.His145Gln)
2g.219057575A>GCA431262210IHHc.435T>C (p.His145=)
2g.219057575A>TCA350635378IHHc.435T>A (p.His145Gln)
2g.219057576delCA2697550462IHHc.434del (p.His145LeufsTer?)
ClinVar
2g.219057576T>ACA350635381IHHc.434A>T (p.His145Leu)
2g.219057576T>CCA350635382IHHc.434A>G (p.His145Arg)
gnomAD v4
2g.219057576T>GCA350635385IHHc.434A>C (p.His145Pro)
2g.219057577G>ACA2116699IHHc.433C>T (p.His145Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219057577G>CCA350635389IHHc.433C>G (p.His145Asp)
2g.219057577G=CA1329041115IHHc.433C= (p.His145=)
2g.219057577G>TCA350635387IHHc.433C>A (p.His145Asn)
dbSNP gnomAD v2 gnomAD v4
2g.219057578C>ACA431262211IHHc.432G>T (p.Leu144=)
2g.219057578C=CA1329041117IHHc.432G= (p.Leu144=)
2g.219057578C>GCA431262212IHHc.432G>C (p.Leu144=)
2g.219057578C>TCA431262213IHHc.432G>A (p.Leu144=)
dbSNP gnomAD v3 gnomAD v4
2g.219057579A>CCA350635395IHHc.431T>G (p.Leu144Arg)
2g.219057579A>GCA350635392IHHc.431T>C (p.Leu144Pro)
2g.219057579A>TCA350635396IHHc.431T>A (p.Leu144Gln)
2g.219057580G>ACA431262215IHHc.430C>T (p.Leu144=)
2g.219057580G>CCA350635398IHHc.430C>G (p.Leu144Val)
2g.219057580G>TCA350635399IHHc.430C>A (p.Leu144Met)
2g.219057581G>ACA431262218IHHc.429C>T (p.Ser143=)
gnomAD v4
2g.219057581G>CCA431262219IHHc.429C>G (p.Ser143=)
2g.219057581G>TCA431262220IHHc.429C>A (p.Ser143=)
COSMIC
2g.219057582G>ACA350635402IHHc.428C>T (p.Ser143Phe)
2g.219057582G>CCA350635403IHHc.428C>G (p.Ser143Cys)
gnomAD v4
2g.219057582G>TCA350635405IHHc.428C>A (p.Ser143Tyr)
2g.219057583A>CCA350635408IHHc.427T>G (p.Ser143Ala)
2g.219057583A>GCA350635409IHHc.427T>C (p.Ser143Pro)
2g.219057583A>TCA350635411IHHc.427T>A (p.Ser143Thr)
2g.219057584C>ACA350635413IHHc.426G>T (p.Glu142Asp)
2g.219057584C>GCA350635416IHHc.426G>C (p.Glu142Asp)
gnomAD v4
2g.219057584C>TCA431262224IHHc.426G>A (p.Glu142=)
2g.219057585T>ACA350635418IHHc.425A>T (p.Glu142Val)
2g.219057585T>CCA350635420IHHc.425A>G (p.Glu142Gly)
2g.219057585T>GCA350635421IHHc.425A>C (p.Glu142Ala)
2g.219057586C>ACA350635427IHHc.424G>T (p.Glu142Ter)
2g.219057586C=CA1329041119IHHc.424G= (p.Glu142=)
2g.219057586C>GCA350635424IHHc.424G>C (p.Glu142Gln)
2g.219057586C>TCA2116700IHHc.424G>A (p.Glu142Lys)
dbSNP ExAC gnomAD v2
2g.219057587C>ACA350635430IHHc.423G>T (p.Glu141Asp)
2g.219057587C=CA1329041120IHHc.423G= (p.Glu141=)
2g.219057587C>GCA350635431IHHc.423G>C (p.Glu141Asp)
2g.219057587C>TCA431262226IHHc.423G>A (p.Glu141=)
dbSNP gnomAD v4
2g.219057588T>ACA350635435IHHc.422A>T (p.Glu141Val)
2g.219057588T>CCA350635437IHHc.422A>G (p.Glu141Gly)
2g.219057588T>GCA350635439IHHc.422A>C (p.Glu141Ala)
2g.219057589C>ACA350635441IHHc.421G>T (p.Glu141Ter)
2g.219057589C=CA1329041122IHHc.421G= (p.Glu141=)
2g.219057589C>GCA350635443IHHc.421G>C (p.Glu141Gln)
2g.219057589C>TCA350635446IHHc.421G>A (p.Glu141Lys)
dbSNP gnomAD v3 gnomAD v4
2g.219057590T>ACA431262228IHHc.420A>T (p.Ser140=)
2g.219057590T>CCA431262229IHHc.420A>G (p.Ser140=)
2g.219057590T>GCA2116701IHHc.420A>C (p.Ser140=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219057590T=CA1329041123IHHc.420A= (p.Ser140=)
2g.219057591G>ACA350635449IHHc.419C>T (p.Ser140Leu)
ClinVar dbSNP COSMIC
2g.219057591G>CCA350635454IHHc.419C>G (p.Ser140Ter)
2g.219057591G>TCA350635457IHHc.419C>A (p.Ser140Ter)
2g.219057592A>CCA350635462IHHc.418T>G (p.Ser140Ala)
2g.219057592A>GCA350635466IHHc.418T>C (p.Ser140Pro)
2g.219057592A>TCA350635460IHHc.418T>A (p.Ser140Thr)
2g.219057593G>ACA431262230IHHc.417C>T (p.His139=)
2g.219057593G>CCA350635467IHHc.417C>G (p.His139Gln)
2g.219057593G>TCA350635468IHHc.417C>A (p.His139Gln)
2g.219057594T>ACA350635470IHHc.416A>T (p.His139Leu)
2g.219057594T>CCA350635473IHHc.416A>G (p.His139Arg)
2g.219057594T>GCA350635476IHHc.416A>C (p.His139Pro)
2g.219057595G>ACA350635478IHHc.415C>T (p.His139Tyr)
2g.219057595G>CCA350635482IHHc.415C>G (p.His139Asp)
2g.219057595G>TCA350635484IHHc.415C>A (p.His139Asn)
2g.219057596dupCA2580065745IHHc.415dup (p.His139ProfsTer9)
ClinVar
2g.219057596G>ACA431262237IHHc.414C>T (p.His138=)
dbSNP
2g.219057596G>CCA350635486IHHc.414C>G (p.His138Gln)
2g.219057596G=CA1329041124IHHc.414C= (p.His138=)
2g.219057596G>TCA350635487IHHc.414C>A (p.His138Gln)
2g.219057597T>ACA350635489IHHc.413A>T (p.His138Leu)
gnomAD v4
2g.219057597T>CCA350635490IHHc.413A>G (p.His138Arg)
2g.219057597T>GCA350635492IHHc.413A>C (p.His138Pro)
2g.219057598G>ACA350635497IHHc.412C>T (p.His138Tyr)
2g.219057598G>CCA350635495IHHc.412C>G (p.His138Asp)
2g.219057598G>TCA350635494IHHc.412C>A (p.His138Asn)
2g.219057599G>ACA431262240IHHc.411C>T (p.Gly137=)
gnomAD v4
2g.219057599G>CCA431262242IHHc.411C>G (p.Gly137=)
2g.219057599G>TCA431262244IHHc.411C>A (p.Gly137=)
2g.219057600C>ACA350635500IHHc.410G>T (p.Gly137Val)
2g.219057600C=CA1329041125IHHc.410G= (p.Gly137=)
2g.219057600C>GCA350635503IHHc.410G>C (p.Gly137Ala)
2g.219057600C>TCA2116702IHHc.410G>A (p.Gly137Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219057601C>ACA350635507IHHc.409G>T (p.Gly137Cys)
2g.219057601C=CA1329041126IHHc.409G= (p.Gly137=)
2g.219057601C>GCA350635508IHHc.409G>C (p.Gly137Arg)
gnomAD v4
2g.219057601C>TCA350635510IHHc.409G>A (p.Gly137Ser)
dbSNP gnomAD v4
2g.219057602G>ACA2116703IHHc.408C>T (p.Asp136=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219057602G>CCA350635512IHHc.408C>G (p.Asp136Glu)
2g.219057602G=CA1329041127IHHc.408C= (p.Asp136=)
2g.219057602G>TCA350635514IHHc.408C>A (p.Asp136Glu)
2g.219057603T>ACA350635517IHHc.407A>T (p.Asp136Val)
2g.219057603T>CCA350635519IHHc.407A>G (p.Asp136Gly)
2g.219057603T>GCA350635521IHHc.407A>C (p.Asp136Ala)
dbSNP
2g.219057603T=CA1329041128IHHc.407A= (p.Asp136=)
2g.219057604C>ACA350635528IHHc.406G>T (p.Asp136Tyr)
2g.219057604C>GCA350635525IHHc.406G>C (p.Asp136His)
2g.219057604C>TCA350635523IHHc.406G>A (p.Asp136Asn)
2g.219057605C>ACA350635529IHHc.405G>T (p.Glu135Asp)
2g.219057605C>GCA350635532IHHc.405G>C (p.Glu135Asp)
2g.219057605C>TCA431262252IHHc.405G>A (p.Glu135=)
2g.219057606T>ACA350635534IHHc.404A>T (p.Glu135Val)
2g.219057606T>CCA350635536IHHc.404A>G (p.Glu135Gly)
2g.219057606T>GCA350635538IHHc.404A>C (p.Glu135Ala)
2g.219057607C>ACA350635540IHHc.403G>T (p.Glu135Ter)
2g.219057607C>GCA350635542IHHc.403G>C (p.Glu135Gln)
2g.219057607C>TCA350635545IHHc.403G>A (p.Glu135Lys)
COSMIC
2g.219057608G>ACA431262256IHHc.402C>T (p.Asp134=)
gnomAD v4
2g.219057608G>CCA350635546IHHc.402C>G (p.Asp134Glu)
gnomAD v4
2g.219057608G>TCA350635547IHHc.402C>A (p.Asp134Glu)
2g.219057609T>ACA350635548IHHc.401A>T (p.Asp134Val)
2g.219057609T>CCA350635549IHHc.401A>G (p.Asp134Gly)
2g.219057609T>GCA350635551IHHc.401A>C (p.Asp134Ala)
2g.219057610C>ACA350635555IHHc.400G>T (p.Asp134Tyr)
2g.219057610C>GCA350635553IHHc.400G>C (p.Asp134His)
2g.219057610C>TCA350635552IHHc.400G>A (p.Asp134Asn)
2g.219057611C>ACA350635558IHHc.399G>T (p.Trp133Cys)
gnomAD v4
2g.219057611C>GCA350635559IHHc.399G>C (p.Trp133Cys)
2g.219057611C>TCA350635561IHHc.399G>A (p.Trp133Ter)
ClinVar
2g.219057612C>ACA350635563IHHc.398G>T (p.Trp133Leu)
2g.219057612C>GCA350635564IHHc.398G>C (p.Trp133Ser)
2g.219057612C>TCA350635566IHHc.398G>A (p.Trp133Ter)
2g.219057613A>CCA350635569IHHc.397T>G (p.Trp133Gly)
2g.219057613A>GCA350635572IHHc.397T>C (p.Trp133Arg)
2g.219057613A>TCA350635573IHHc.397T>A (p.Trp133Arg)
2g.219057614G>ACA431262263IHHc.396C>T (p.Gly132=)
gnomAD v4
2g.219057614G>CCA431262264IHHc.396C>G (p.Gly132=)
2g.219057614G>TCA431262266IHHc.396C>A (p.Gly132=)
2g.219057615C>ACA350635575IHHc.395G>T (p.Gly132Val)
2g.219057615C>GCA350635577IHHc.395G>C (p.Gly132Ala)
2g.219057615C>TCA350635579IHHc.395G>A (p.Gly132Asp)
2g.219057616C>ACA350635585IHHc.394G>T (p.Gly132Cys)
2g.219057616C>GCA350635587IHHc.394G>C (p.Gly132Arg)
2g.219057616C>TCA350635582IHHc.394G>A (p.Gly132Ser)
2g.219057617C>ACA350635588IHHc.393G>T (p.Glu131Asp)
2g.219057617C=CA1329041129IHHc.393G= (p.Glu131=)
2g.219057617C>GCA350635589IHHc.393G>C (p.Glu131Asp)
2g.219057617C>TCA431262269IHHc.393G>A (p.Glu131=)
dbSNP gnomAD v2 gnomAD v4
2g.219057618T>ACA350635591IHHc.392A>T (p.Glu131Val)
2g.219057618T>CCA350635593IHHc.392A>G (p.Glu131Gly)
2g.219057618T>GCA350635596IHHc.392A>C (p.Glu131Ala)
2g.219057619C>ACA350635600IHHc.391G>T (p.Glu131Ter)
2g.219057619C=CA1329041130IHHc.391G= (p.Glu131=)
2g.219057619C>GCA350635599IHHc.391G>C (p.Glu131Gln)
COSMIC
2g.219057619C>TCA119974IHHc.391G>A (p.Glu131Lys)
ClinVar dbSNP
2g.219057620G>ACA431262272IHHc.390C>T (p.Thr130=)
2g.219057620G>CCA431262273IHHc.390C>G (p.Thr130=)
gnomAD v4
2g.219057620G>TCA431262276IHHc.390C>A (p.Thr130=)
gnomAD v4
2g.219057621G>ACA350635603IHHc.389C>T (p.Thr130Ile)
2g.219057621G>CCA350635604IHHc.389C>G (p.Thr130Ser)
2g.219057621G=CA1329041131IHHc.389C= (p.Thr130=)
2g.219057621G>TCA119985IHHc.389C>A (p.Thr130Asn)
ClinVar dbSNP
2g.219057622T>ACA350635607IHHc.388A>T (p.Thr130Ser)
gnomAD v4
2g.219057622T>CCA350635609IHHc.388A>G (p.Thr130Ala)
2g.219057622T>GCA350635610IHHc.388A>C (p.Thr130Pro)
2g.219057623C>ACA431262277IHHc.387G>T (p.Val129=)
2g.219057623C>GCA431262279IHHc.387G>C (p.Val129=)
2g.219057623C>TCA431262278IHHc.387G>A (p.Val129=)
gnomAD v4
2g.219057627_219057640delCA2499215674IHHc.374_387del (p.Val125AspfsTer18)
ClinVar dbSNP
2g.219057624A>CCA350635614IHHc.386T>G (p.Val129Gly)
2g.219057624A>GCA350635617IHHc.386T>C (p.Val129Ala)
2g.219057624A>TCA350635615IHHc.386T>A (p.Val129Glu)

Number of alleles fetched