Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078508_18078510delCA916083782PEX26c.132_134del (p.Leu45del)
ClinVar dbSNP
22g.18078508_18078511delinsCCTGCA2395402803PEX26c.132_135delinsCCTG (p.Leu44=)
22g.18078509C>ACA410264781PEX26c.133C>A (p.Leu45Met)
22g.18078509C=CA2395402805PEX26c.133C= (p.Leu45=)
22g.18078509C>GCA410264785PEX26c.133C>G (p.Leu45Val)
22g.18078509C>TCA513185059PEX26c.133C>T (p.Leu45=)
ClinVar dbSNP gnomAD v4
22g.18078509_18078511delCA10093227PEX26c.133_135del (p.Leu45del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078509_18078512delinsCTGGCA2395402806PEX26c.133_136delinsCTGG (p.Leu45=)
22g.18078510T>ACA410264790PEX26c.134T>A (p.Leu45Gln)
22g.18078510T>CCA115374PEX26c.134T>C (p.Leu45Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078510T>GCA410264794PEX26c.134T>G (p.Leu45Arg)
22g.18078510T=CA2395402808PEX26c.134T= (p.Leu45=)
22g.18078515_18078517delCA2395402807PEX26c.139_141del (p.Val47del)
dbSNP
22g.18078511G>ACA513185063PEX26c.135G>A (p.Leu45=)
gnomAD v4
22g.18078511G>CCA513185064PEX26c.135G>C (p.Leu45=)
22g.18078511G>TCA513185065PEX26c.135G>T (p.Leu45=)
gnomAD v4
22g.18078512G>ACA10093228PEX26c.136G>A (p.Val46Met)
dbSNP ExAC gnomAD v4
22g.18078512G>CCA410264805PEX26c.136G>C (p.Val46Leu)
22g.18078512G=CA2395402809PEX26c.136G= (p.Val46=)
22g.18078512G>TCA410264808PEX26c.136G>T (p.Val46Leu)
gnomAD v4
22g.18078513T>ACA410264811PEX26c.137T>A (p.Val46Glu)
22g.18078513T>CCA410264812PEX26c.137T>C (p.Val46Ala)
22g.18078513T>GCA410264813PEX26c.137T>G (p.Val46Gly)
22g.18078514G>ACA513185066PEX26c.138G>A (p.Val46=)
22g.18078514G>CCA513185067PEX26c.138G>C (p.Val46=)
22g.18078514G>TCA513185068PEX26c.138G>T (p.Val46=)
gnomAD v4
22g.18078515G>ACA410264815PEX26c.139G>A (p.Val47Met)
gnomAD v4
22g.18078515G>CCA410264817PEX26c.139G>C (p.Val47Leu)
dbSNP gnomAD v4
22g.18078515G=CA2395402810PEX26c.139G= (p.Val47=)
22g.18078515G>TCA410264827PEX26c.139G>T (p.Val47Leu)
gnomAD v4
22g.18078516T>ACA410264832PEX26c.140T>A (p.Val47Glu)
22g.18078516T>CCA410264836PEX26c.140T>C (p.Val47Ala)
22g.18078516T>GCA410264838PEX26c.140T>G (p.Val47Gly)
22g.18078517G>ACA513185069PEX26c.141G>A (p.Val47=)
gnomAD v4
22g.18078517G>CCA513185070PEX26c.141G>C (p.Val47=)
ClinVar gnomAD v4
22g.18078517G>TCA513185071PEX26c.141G>T (p.Val47=)
gnomAD v4
22g.18078518C>ACA410264849PEX26c.142C>A (p.His48Asn)
gnomAD v4
22g.18078518C=CA2395402811PEX26c.142C= (p.His48=)
22g.18078518C>GCA410264843PEX26c.142C>G (p.His48Asp)
22g.18078518C>TCA10093229PEX26c.142C>T (p.His48Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078519A>CCA410264855PEX26c.143A>C (p.His48Pro)
22g.18078519A>GCA410264857PEX26c.143A>G (p.His48Arg)
22g.18078519A>TCA410264860PEX26c.143A>T (p.His48Leu)
22g.18078520C>ACA410264864PEX26c.144C>A (p.His48Gln)
22g.18078520C>GCA410264866PEX26c.144C>G (p.His48Gln)
22g.18078520C>TCA513185072PEX26c.144C>T (p.His48=)
gnomAD v4
22g.18078521C>ACA410264870PEX26c.145C>A (p.Leu49Met)
gnomAD v4
22g.18078521C=CA2395402812PEX26c.145C= (p.Leu49=)
22g.18078521C>GCA410264873PEX26c.145C>G (p.Leu49Val)
ClinVar
22g.18078521C>TCA513185073PEX26c.145C>T (p.Leu49=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078522T>ACA410264876PEX26c.146T>A (p.Leu49Gln)
22g.18078522T>CCA410264877PEX26c.146T>C (p.Leu49Pro)
gnomAD v4
22g.18078522T>GCA410264880PEX26c.146T>G (p.Leu49Arg)
22g.18078523G>ACA513184384PEX26c.147G>A (p.Leu49=)
gnomAD v4
22g.18078523G>CCA513184386PEX26c.147G>C (p.Leu49=)
22g.18078523G>TCA513184388PEX26c.147G>T (p.Leu49=)
gnomAD v4
22g.18078524G>ACA410264893PEX26c.148G>A (p.Asp50Asn)
gnomAD v4
22g.18078524G>CCA410264888PEX26c.148G>C (p.Asp50His)
ClinVar dbSNP
22g.18078524G=CA2395402813PEX26c.148G= (p.Asp50=)
22g.18078524G>TCA410264885PEX26c.148G>T (p.Asp50Tyr)
gnomAD v4
22g.18078525A>CCA410264898PEX26c.149A>C (p.Asp50Ala)
22g.18078525A>GCA410264901PEX26c.149A>G (p.Asp50Gly)
gnomAD v4
22g.18078525A>TCA410264904PEX26c.149A>T (p.Asp50Val)
22g.18078526C>ACA410264908PEX26c.150C>A (p.Asp50Glu)
22g.18078526C=CA2395402814PEX26c.150C= (p.Asp50=)
22g.18078526C>GCA410264912PEX26c.150C>G (p.Asp50Glu)
dbSNP
22g.18078526C>TCA513184402PEX26c.150C>T (p.Asp50=)
ClinVar dbSNP
22g.18078527T>ACA410264924PEX26c.151T>A (p.Phe51Ile)
22g.18078527T>CCA410264927PEX26c.151T>C (p.Phe51Leu)
22g.18078527T>GCA410264929PEX26c.151T>G (p.Phe51Val)
gnomAD v4
22g.18078528T>ACA10093230PEX26c.152T>A (p.Phe51Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078528T>CCA410264936PEX26c.152T>C (p.Phe51Ser)
gnomAD v4
22g.18078528T>GCA410264939PEX26c.152T>G (p.Phe51Cys)
22g.18078528T=CA2395402815PEX26c.152T= (p.Phe51=)
22g.18078528_18078529delinsTCCA2395402816PEX26c.152_153delinsTC (p.Phe51=)
22g.18078529C>ACA10093231PEX26c.153C>A (p.Phe51Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078529C=CA2395402817PEX26c.153C= (p.Phe51=)
22g.18078529C>GCA410264947PEX26c.153C>G (p.Phe51Leu)
22g.18078529C>TCA513184416PEX26c.153C>T (p.Phe51=)
gnomAD v4
22g.18078530delCA638502299PEX26c.154del (p.Arg52GlyfsTer30)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078530C>ACA513184419PEX26c.154C>A (p.Arg52=)
dbSNP gnomAD v2
22g.18078530C=CA2395402818PEX26c.154C= (p.Arg52=)
22g.18078530C>GCA410264953PEX26c.154C>G (p.Arg52Gly)
dbSNP gnomAD v4
22g.18078530C>TCA410264950PEX26c.154C>T (p.Arg52Trp)
dbSNP gnomAD v4
22g.18078531G>ACA10093233PEX26c.155G>A (p.Arg52Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078531G>CCA10093232PEX26c.155G>C (p.Arg52Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078531G=CA2395402819PEX26c.155G= (p.Arg52=)
22g.18078531G>TCA410264962PEX26c.155G>T (p.Arg52Leu)
gnomAD v4
22g.18078532G>ACA513184427PEX26c.156G>A (p.Arg52=)
22g.18078532G>CCA513184429PEX26c.156G>C (p.Arg52=)
gnomAD v4
22g.18078532G>TCA513184430PEX26c.156G>T (p.Arg52=)
gnomAD v4
22g.18078532_18078552delinsGGCGGCGCTGGAGACCTGCGACA2395402820PEX26c.156_176delinsGGCGGCGCTGGAGACCTGCGA (p.Arg52=)
22g.18078533G>ACA410264965PEX26c.157G>A (p.Ala53Thr)
gnomAD v4
22g.18078533G>CCA410264968PEX26c.157G>C (p.Ala53Pro)
22g.18078533G>TCA410264970PEX26c.157G>T (p.Ala53Ser)
gnomAD v4
22g.18078537_18078556delCA2395402821PEX26c.161_180del (p.Ala54GlyfsTer?)
dbSNP
22g.18078533_18078534insACACCA2818335180PEX26c.157_158insACAC (p.Ala53AspfsTer?)
22g.18078534C>ACA410264972PEX26c.158C>A (p.Ala53Glu)
gnomAD v4
22g.18078534C>GCA410264976PEX26c.158C>G (p.Ala53Gly)
gnomAD v4
22g.18078534C>TCA410264978PEX26c.158C>T (p.Ala53Val)
gnomAD v4
22g.18078535G>ACA513184440PEX26c.159G>A (p.Ala53=)
gnomAD v4
22g.18078535G>CCA513184442PEX26c.159G>C (p.Ala53=)
gnomAD v4
22g.18078535G>TCA513184444PEX26c.159G>T (p.Ala53=)
gnomAD v4
22g.18078536G>ACA410264984PEX26c.160G>A (p.Ala54Thr)
gnomAD v4
22g.18078536G>CCA410264988PEX26c.160G>C (p.Ala54Pro)
22g.18078536G>TCA410264992PEX26c.160G>T (p.Ala54Ser)
gnomAD v4
22g.18078537C>ACA410265000PEX26c.161C>A (p.Ala54Glu)
gnomAD v4
22g.18078537C>GCA410264997PEX26c.161C>G (p.Ala54Gly)
22g.18078537C>TCA410264995PEX26c.161C>T (p.Ala54Val)
gnomAD v4
22g.18078538G>ACA513184453PEX26c.162G>A (p.Ala54=)
gnomAD v4
22g.18078538G>CCA513184455PEX26c.162G>C (p.Ala54=)
gnomAD v4
22g.18078538G>TCA513184457PEX26c.162G>T (p.Ala54=)
ClinVar gnomAD v4
22g.18078539C>ACA410265002PEX26c.163C>A (p.Leu55Met)
gnomAD v4
22g.18078539C=CA2395402822PEX26c.163C= (p.Leu55=)
22g.18078539C>GCA10093234PEX26c.163C>G (p.Leu55Val)
dbSNP ExAC gnomAD v2
22g.18078539C>TCA513184462PEX26c.163C>T (p.Leu55=)
ClinVar gnomAD v4
22g.18078540T>ACA410265015PEX26c.164T>A (p.Leu55Gln)
22g.18078540T>CCA410265021PEX26c.164T>C (p.Leu55Pro)
gnomAD v4
22g.18078540T>GCA410265018PEX26c.164T>G (p.Leu55Arg)
22g.18078541G>ACA513184471PEX26c.165G>A (p.Leu55=)
gnomAD v4
22g.18078541G>CCA513184469PEX26c.165G>C (p.Leu55=)
22g.18078541G>TCA513184468PEX26c.165G>T (p.Leu55=)
gnomAD v4
22g.18078542delCA2655184093PEX26c.166del (p.Glu56ArgfsTer26)
gnomAD v4
22g.18078542G>ACA410265026PEX26c.166G>A (p.Glu56Lys)
22g.18078542G>CCA410265029PEX26c.166G>C (p.Glu56Gln)
22g.18078542G>TCA410265031PEX26c.166G>T (p.Glu56Ter)
gnomAD v4
22g.18078543A>CCA410265036PEX26c.167A>C (p.Glu56Ala)
22g.18078543A>GCA410265039PEX26c.167A>G (p.Glu56Gly)
gnomAD v4
22g.18078543A>TCA410265043PEX26c.167A>T (p.Glu56Val)
gnomAD v4
22g.18078544G>ACA10093235PEX26c.168G>A (p.Glu56=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078544G>CCA410265051PEX26c.168G>C (p.Glu56Asp)
22g.18078544G=CA2395402823PEX26c.168G= (p.Glu56=)
22g.18078544G>TCA410265054PEX26c.168G>T (p.Glu56Asp)
dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.18078545A=CA2395402824PEX26c.169A= (p.Thr57=)
22g.18078545A>CCA410265057PEX26c.169A>C (p.Thr57Pro)
22g.18078545A>GCA10093236PEX26c.169A>G (p.Thr57Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078545A>TCA410265061PEX26c.169A>T (p.Thr57Ser)
22g.18078546C>ACA410265071PEX26c.170C>A (p.Thr57Asn)
gnomAD v4
22g.18078546C>GCA410265066PEX26c.170C>G (p.Thr57Ser)
gnomAD v4
22g.18078546C>TCA410265067PEX26c.170C>T (p.Thr57Ile)
gnomAD v4
22g.18078547C>ACA513184490PEX26c.171C>A (p.Thr57=)
gnomAD v4
22g.18078547C=CA2395402825PEX26c.171C= (p.Thr57=)
22g.18078547C>GCA513184493PEX26c.171C>G (p.Thr57=)
22g.18078547C>TCA513184492PEX26c.171C>T (p.Thr57=)
dbSNP gnomAD v2 gnomAD v4
22g.18078548T>ACA410265077PEX26c.172T>A (p.Cys58Ser)
gnomAD v4
22g.18078548T>CCA410265078PEX26c.172T>C (p.Cys58Arg)
gnomAD v4
22g.18078548T>GCA410265080PEX26c.172T>G (p.Cys58Gly)
22g.18078549G>ACA410265083PEX26c.173G>A (p.Cys58Tyr)
gnomAD v4
22g.18078549G>CCA410265086PEX26c.173G>C (p.Cys58Ser)
22g.18078549G>TCA410265089PEX26c.173G>T (p.Cys58Phe)
gnomAD v4
22g.18078550C>ACA410265092PEX26c.174C>A (p.Cys58Ter)
gnomAD v4
22g.18078550C>GCA410265094PEX26c.174C>G (p.Cys58Trp)
ClinVar
22g.18078550C>TCA513184504PEX26c.174C>T (p.Cys58=)
ClinVar dbSNP gnomAD v4
22g.18078551G>ACA410265096PEX26c.175G>A (p.Glu59Lys)
ClinVar dbSNP gnomAD v4
22g.18078551G>CCA410265099PEX26c.175G>C (p.Glu59Gln)
gnomAD v4
22g.18078551G=CA2395402826PEX26c.175G= (p.Glu59=)
22g.18078551G>TCA10093237PEX26c.175G>T (p.Glu59Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.18078552A>CCA410265113PEX26c.176A>C (p.Glu59Ala)
22g.18078552A>GCA410265110PEX26c.176A>G (p.Glu59Gly)
22g.18078552A>TCA410265107PEX26c.176A>T (p.Glu59Val)
22g.18078553G>ACA10093239PEX26c.177G>A (p.Glu59=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078553G>CCA410265119PEX26c.177G>C (p.Glu59Asp)
gnomAD v4
22g.18078553G=CA2395402827PEX26c.177G= (p.Glu59=)
22g.18078553G>TCA410265122PEX26c.177G>T (p.Glu59Asp)
gnomAD v4
22g.18078553_18078554delinsGCCA2395402829PEX26c.177_178delinsGC (p.Glu59=)
22g.18078553_18078555delinsGCGCA2395402828PEX26c.177_179delinsGCG (p.Glu59=)
22g.18078554delCA10093238PEX26c.178del (p.Arg60GlyfsTer22)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078554C>ACA513184521PEX26c.178C>A (p.Arg60=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078554C=CA2395402830PEX26c.178C= (p.Arg60=)
22g.18078554C>GCA410265127PEX26c.178C>G (p.Arg60Gly)
22g.18078554C>TCA410265130PEX26c.178C>T (p.Arg60Trp)
gnomAD v4
22g.18078554_18078555delinsACA1139666952PEX26c.178_179delinsA (p.Ala61ProfsTer21)
ClinVar dbSNP
22g.18078555G>ACA10093240PEX26c.179G>A (p.Arg60Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.18078555G>CCA410265136PEX26c.179G>C (p.Arg60Pro)
gnomAD v4
22g.18078555G=CA2395402831PEX26c.179G= (p.Arg60=)
22g.18078555G>TCA410265139PEX26c.179G>T (p.Arg60Leu)
gnomAD v4
22g.18078556G>ACA513184533PEX26c.180G>A (p.Arg60=)
ClinVar
22g.18078556G>CCA513184535PEX26c.180G>C (p.Arg60=)
22g.18078556G>TCA513184531PEX26c.180G>T (p.Arg60=)
gnomAD v4
22g.18078557G>ACA410265143PEX26c.181G>A (p.Ala61Thr)
gnomAD v4
22g.18078557G>CCA410265145PEX26c.181G>C (p.Ala61Pro)
22g.18078557G=CA2395402832PEX26c.181G= (p.Ala61=)
22g.18078557G>TCA410265149PEX26c.181G>T (p.Ala61Ser)
dbSNP gnomAD v2 gnomAD v4
22g.18078558C>ACA410265160PEX26c.182C>A (p.Ala61Asp)
gnomAD v4
22g.18078558C>GCA410265157PEX26c.182C>G (p.Ala61Gly)
22g.18078558C>TCA410265153PEX26c.182C>T (p.Ala61Val)
gnomAD v4
22g.18078559C>ACA513184545PEX26c.183C>A (p.Ala61=)
gnomAD v4
22g.18078559C>GCA513184546PEX26c.183C>G (p.Ala61=)
gnomAD v4
22g.18078559C>TCA513184548PEX26c.183C>T (p.Ala61=)
ClinVar
22g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCGCA2395402833PEX26c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
22g.18078560T>ACA410265163PEX26c.184T>A (p.Trp62Arg)
gnomAD v4
22g.18078560T>CCA410265167PEX26c.184T>C (p.Trp62Arg)
gnomAD v4
22g.18078560T>GCA410265169PEX26c.184T>G (p.Trp62Gly)
22g.18078568_18078592delCA321284536PEX26c.192_216del (p.Ser64ArgfsTer10)
ClinVar dbSNP
22g.18078561G>ACA410265173PEX26c.185G>A (p.Trp62Ter)
ClinVar dbSNP gnomAD v4
22g.18078561G>CCA410265180PEX26c.185G>C (p.Trp62Ser)
22g.18078561G=CA2395402834PEX26c.185G= (p.Trp62=)
22g.18078561G>TCA410265183PEX26c.185G>T (p.Trp62Leu)
gnomAD v4
22g.18078562G>ACA410265188PEX26c.186G>A (p.Trp62Ter)
dbSNP gnomAD v4
22g.18078562G>CCA410265191PEX26c.186G>C (p.Trp62Cys)
22g.18078562G=CA2395402835PEX26c.186G= (p.Trp62=)
22g.18078562G>TCA410265195PEX26c.186G>T (p.Trp62Cys)
gnomAD v4
22g.18078563C>ACA410265198PEX26c.187C>A (p.Gln63Lys)
dbSNP gnomAD v2 gnomAD v4
22g.18078563C=CA2395402836PEX26c.187C= (p.Gln63=)
22g.18078563C>GCA10093241PEX26c.187C>G (p.Gln63Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078563C>TCA410265203PEX26c.187C>T (p.Gln63Ter)
gnomAD v4
22g.18078564A=CA2395402837PEX26c.188A= (p.Gln63=)
22g.18078564A>CCA410265210PEX26c.188A>C (p.Gln63Pro)
22g.18078564A>GCA410265208PEX26c.188A>G (p.Gln63Arg)
dbSNP gnomAD v4
22g.18078564A>TCA410265205PEX26c.188A>T (p.Gln63Leu)
22g.18078566_18078567delCA2655184179PEX26c.190_191del (p.Leu65GlyfsTer?)
ClinVar gnomAD v4
22g.18078565G>ACA513184566PEX26c.189G>A (p.Gln63=)
ClinVar gnomAD v4
22g.18078565G>CCA410265213PEX26c.189G>C (p.Gln63His)
dbSNP
22g.18078565G=CA2395402838PEX26c.189G= (p.Gln63=)
22g.18078565G>TCA410265214PEX26c.189G>T (p.Gln63His)
gnomAD v4
22g.18078566A>CCA410265217PEX26c.190A>C (p.Ser64Arg)
22g.18078566A>GCA410265219PEX26c.190A>G (p.Ser64Gly)
22g.18078566A>TCA410265220PEX26c.190A>T (p.Ser64Cys)
22g.18078567G>ACA410265223PEX26c.191G>A (p.Ser64Asn)
22g.18078567G>CCA410265225PEX26c.191G>C (p.Ser64Thr)
gnomAD v4
22g.18078567G>TCA410265226PEX26c.191G>T (p.Ser64Ile)
gnomAD v4
22g.18078568T>ACA321284542PEX26c.192T>A (p.Ser64Arg)
dbSNP
22g.18078568T>CCA513184579PEX26c.192T>C (p.Ser64=)
gnomAD v4
22g.18078568T>GCA410265230PEX26c.192T>G (p.Ser64Arg)
22g.18078568T=CA2395402839PEX26c.192T= (p.Ser64=)
22g.18078569C>ACA410265232PEX26c.193C>A (p.Leu65Met)
22g.18078569C>GCA410265234PEX26c.193C>G (p.Leu65Val)
22g.18078569C>TCA513184584PEX26c.193C>T (p.Leu65=)
22g.18078570T>ACA410265236PEX26c.194T>A (p.Leu65Gln)
22g.18078570T>CCA410265239PEX26c.194T>C (p.Leu65Pro)
22g.18078570T>GCA410265241PEX26c.194T>G (p.Leu65Arg)
22g.18078571G>ACA321284545PEX26c.195G>A (p.Leu65=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078571G>CCA513184593PEX26c.195G>C (p.Leu65=)
22g.18078571G=CA2395402840PEX26c.195G= (p.Leu65=)
22g.18078571G>TCA513184591PEX26c.195G>T (p.Leu65=)
gnomAD v4
22g.18078572G>ACA410265244PEX26c.196G>A (p.Ala66Thr)
gnomAD v4
22g.18078572G>CCA410265248PEX26c.196G>C (p.Ala66Pro)
22g.18078572G>TCA410265246PEX26c.196G>T (p.Ala66Ser)
gnomAD v4
22g.18078573C>ACA410265251PEX26c.197C>A (p.Ala66Asp)
gnomAD v4
22g.18078573C=CA2395402841PEX26c.197C= (p.Ala66=)
22g.18078573C>GCA410265253PEX26c.197C>G (p.Ala66Gly)
22g.18078573C>TCA410265255PEX26c.197C>T (p.Ala66Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078576_18078579dupCA2655184201PEX26c.200_203dup (p.His68GlnfsTer?)
gnomAD v4
22g.18078574C>ACA513184603PEX26c.198C>A (p.Ala66=)
gnomAD v4
22g.18078574C=CA2395402842PEX26c.198C= (p.Ala66=)
22g.18078574C>GCA513184605PEX26c.198C>G (p.Ala66=)
22g.18078574C>TCA10093242PEX26c.198C>T (p.Ala66=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078575A>CCA410265259PEX26c.199A>C (p.Asn67His)
22g.18078575A>GCA410265260PEX26c.199A>G (p.Asn67Asp)
gnomAD v4
22g.18078575A>TCA410265263PEX26c.199A>T (p.Asn67Tyr)
22g.18078576delCA2655184210PEX26c.200del (p.Asn67ThrfsTer15)
gnomAD v4
22g.18078576A=CA2395402843PEX26c.200A= (p.Asn67=)
22g.18078576A>CCA410265266PEX26c.200A>C (p.Asn67Thr)
22g.18078576A>GCA10093243PEX26c.200A>G (p.Asn67Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078576A>TCA410265269PEX26c.200A>T (p.Asn67Ile)
22g.18078577C>ACA410265271PEX26c.201C>A (p.Asn67Lys)
gnomAD v4
22g.18078577C=CA2395402844PEX26c.201C= (p.Asn67=)
22g.18078577C>GCA410265273PEX26c.201C>G (p.Asn67Lys)
gnomAD v4
22g.18078577C>TCA513184618PEX26c.201C>T (p.Asn67=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18078578C>ACA410265275PEX26c.202C>A (p.His68Asn)
gnomAD v4
22g.18078578C>GCA410265277PEX26c.202C>G (p.His68Asp)
22g.18078578C>TCA410265276PEX26c.202C>T (p.His68Tyr)
dbSNP gnomAD v4
22g.18078579A>CCA410265279PEX26c.203A>C (p.His68Pro)
22g.18078579A>GCA410265280PEX26c.203A>G (p.His68Arg)
gnomAD v4
22g.18078579A>TCA410265282PEX26c.203A>T (p.His68Leu)
22g.18078580C>ACA410265285PEX26c.204C>A (p.His68Gln)
gnomAD v4
22g.18078580C>GCA410265287PEX26c.204C>G (p.His68Gln)
22g.18078580C>TCA513184621PEX26c.204C>T (p.His68=)
ClinVar gnomAD v4
22g.18078581G>ACA10093244PEX26c.205G>A (p.Ala69Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.18078581G>CCA410265290PEX26c.205G>C (p.Ala69Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078581G=CA2395402845PEX26c.205G= (p.Ala69=)
22g.18078581G>TCA410265291PEX26c.205G>T (p.Ala69Ser)
gnomAD v4
22g.18078582C>ACA410265294PEX26c.206C>A (p.Ala69Asp)
gnomAD v4
22g.18078582C=CA2395402846PEX26c.206C= (p.Ala69=)
22g.18078582C>GCA410265296PEX26c.206C>G (p.Ala69Gly)
22g.18078582C>TCA410265298PEX26c.206C>T (p.Ala69Val)
dbSNP gnomAD v2 gnomAD v4
22g.18078583C>ACA513184622PEX26c.207C>A (p.Ala69=)
dbSNP gnomAD v4
22g.18078583C=CA2395402847PEX26c.207C= (p.Ala69=)
22g.18078583C>GCA513184624PEX26c.207C>G (p.Ala69=)
gnomAD v4
22g.18078583C>TCA10093245PEX26c.207C>T (p.Ala69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078584G>ACA410265304PEX26c.208G>A (p.Val70Met)
gnomAD v4
22g.18078584G>CCA410265302PEX26c.208G>C (p.Val70Leu)
22g.18078584G=CA2395402848PEX26c.208G= (p.Val70=)
22g.18078584G>TCA10093246PEX26c.208G>T (p.Val70Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078585T>ACA410265305PEX26c.209T>A (p.Val70Glu)
22g.18078585T>CCA410265307PEX26c.209T>C (p.Val70Ala)
gnomAD v4
22g.18078585T>GCA410265309PEX26c.209T>G (p.Val70Gly)
22g.18078586G>ACA513184625PEX26c.210G>A (p.Val70=)
gnomAD v4
22g.18078586G>CCA513184626PEX26c.210G>C (p.Val70=)
22g.18078586G>TCA513184627PEX26c.210G>T (p.Val70=)
gnomAD v4
22g.18078587dupCA2831039145PEX26c.211dup (p.Ala71GlyfsTer?)
22g.18078587G>ACA410265311PEX26c.211G>A (p.Ala71Thr)
gnomAD v4
22g.18078587G>CCA410265313PEX26c.211G>C (p.Ala71Pro)
22g.18078587G=CA2395402849PEX26c.211G= (p.Ala71=)
22g.18078587G>TCA410265315PEX26c.211G>T (p.Ala71Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078588C>ACA410265318PEX26c.212C>A (p.Ala71Glu)
gnomAD v4
22g.18078588C=CA2395402850PEX26c.212C= (p.Ala71=)
22g.18078588C>GCA410265320PEX26c.212C>G (p.Ala71Gly)
dbSNP
22g.18078588C>TCA410265322PEX26c.212C>T (p.Ala71Val)
gnomAD v4
22g.18078589A>CCA513184628PEX26c.213A>C (p.Ala71=)
22g.18078589A>GCA513184629PEX26c.213A>G (p.Ala71=)
gnomAD v4
22g.18078589A>TCA513184631PEX26c.213A>T (p.Ala71=)
gnomAD v4
22g.18078590G>ACA410265324PEX26c.214G>A (p.Glu72Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078590G>CCA10093247PEX26c.214G>C (p.Glu72Gln)
dbSNP ExAC gnomAD v4
22g.18078590G=CA2395402851PEX26c.214G= (p.Glu72=)
22g.18078590G>TCA410265327PEX26c.214G>T (p.Glu72Ter)
gnomAD v4
22g.18078591A>CCA410265330PEX26c.215A>C (p.Glu72Ala)
22g.18078591A>GCA410265334PEX26c.215A>G (p.Glu72Gly)
gnomAD v4
22g.18078591A>TCA410265332PEX26c.215A>T (p.Glu72Val)
gnomAD v4
22g.18078592G>ACA513184635PEX26c.216G>A (p.Glu72=)
22g.18078592G>CCA410265337PEX26c.216G>C (p.Glu72Asp)
22g.18078592G>TCA410265339PEX26c.216G>T (p.Glu72Asp)
gnomAD v4
22g.18078593G>ACA410265342PEX26c.217G>A (p.Glu73Lys)
gnomAD v4
22g.18078593G>CCA10093248PEX26c.217G>C (p.Glu73Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078593G=CA2395402852PEX26c.217G= (p.Glu73=)
22g.18078593G>TCA410265344PEX26c.217G>T (p.Glu73Ter)
gnomAD v4
22g.18078594A=CA2395402853PEX26c.218A= (p.Glu73=)
22g.18078594A>CCA410265349PEX26c.218A>C (p.Glu73Ala)
22g.18078594A>GCA410265350PEX26c.218A>G (p.Glu73Gly)
22g.18078594A>TCA10093249PEX26c.218A>T (p.Glu73Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078595A>CCA410265354PEX26c.219A>C (p.Glu73Asp)
22g.18078595A>GCA513184638PEX26c.219A>G (p.Glu73=)
22g.18078595A>TCA410265356PEX26c.219A>T (p.Glu73Asp)
22g.18078596C>ACA410265362PEX26c.220C>A (p.Pro74Thr)
gnomAD v4
22g.18078596C=CA2395402854PEX26c.220C= (p.Pro74=)
22g.18078596C>GCA410265361PEX26c.220C>G (p.Pro74Ala)
dbSNP
22g.18078596C>TCA410265359PEX26c.220C>T (p.Pro74Ser)
gnomAD v4
22g.18078597C>ACA410265366PEX26c.221C>A (p.Pro74His)
gnomAD v4
22g.18078597C=CA2395402855PEX26c.221C= (p.Pro74=)
22g.18078597C>GCA410265367PEX26c.221C>G (p.Pro74Arg)
22g.18078597C>TCA410265370PEX26c.221C>T (p.Pro74Leu)
dbSNP
22g.18078599_18079914delCA913203502PEX26c.223_271del
22g.18078598C>ACA513184642PEX26c.222C>A (p.Pro74=)
gnomAD v4 COSMIC
22g.18078598C=CA2395402856PEX26c.222C= (p.Pro74=)
22g.18078598C>GCA513184643PEX26c.222C>G (p.Pro74=)
dbSNP gnomAD v3 gnomAD v4
22g.18078598C>TCA513184644PEX26c.222C>T (p.Pro74=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078599G>ACA410265373PEX26c.223G>A (p.Ala75Thr)
gnomAD v4
22g.18078599G>CCA410265375PEX26c.223G>C (p.Ala75Pro)
22g.18078599G>TCA410265377PEX26c.223G>T (p.Ala75Ser)
gnomAD v4
22g.18078600C>ACA410265382PEX26c.224C>A (p.Ala75Glu)
dbSNP gnomAD v3 gnomAD v4
22g.18078600C=CA2395402857PEX26c.224C= (p.Ala75=)
22g.18078600C>GCA410265380PEX26c.224C>G (p.Ala75Gly)
ClinVar
22g.18078600C>TCA410265381PEX26c.224C>T (p.Ala75Val)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.18078601G>ACA513184648PEX26c.225G>A (p.Ala75=)
gnomAD v4
22g.18078601G>CCA513184649PEX26c.225G>C (p.Ala75=)
22g.18078601G>TCA513184650PEX26c.225G>T (p.Ala75=)
ClinVar gnomAD v4
22g.18078602G>ACA410265385PEX26c.226G>A (p.Gly76Ser)
gnomAD v4
22g.18078602G>CCA410265387PEX26c.226G>C (p.Gly76Arg)
22g.18078602G>TCA410265389PEX26c.226G>T (p.Gly76Cys)
gnomAD v4
22g.18078603G>ACA10093250PEX26c.227G>A (p.Gly76Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18078603G>CCA410265391PEX26c.227G>C (p.Gly76Ala)
22g.18078603G=CA2395402858PEX26c.227G= (p.Gly76=)
22g.18078603G>TCA410265392PEX26c.227G>T (p.Gly76Val)
ClinVar gnomAD v4
22g.18078604C>ACA513184655PEX26c.228C>A (p.Gly76=)
gnomAD v4
22g.18078604C=CA2395402859PEX26c.228C= (p.Gly76=)
22g.18078604C>GCA513184654PEX26c.228C>G (p.Gly76=)
gnomAD v4
22g.18078604C>TCA236171PEX26c.228C>T (p.Gly76=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18078605A=CA2395402860PEX26c.229A= (p.Thr77=)
22g.18078605A>CCA410265397PEX26c.229A>C (p.Thr77Pro)
dbSNP
22g.18078605A>GCA410265399PEX26c.229A>G (p.Thr77Ala)
22g.18078605A>TCA410265401PEX26c.229A>T (p.Thr77Ser)
22g.18078606C>ACA410265404PEX26c.230C>A (p.Thr77Asn)
22g.18078606C>GCA410265406PEX26c.230C>G (p.Thr77Ser)
22g.18078606C>TCA410265407PEX26c.230C>T (p.Thr77Ile)
22g.18078607G>ACA410265410PEX26c.230+1G>A (n.230+1G>A)
ClinVar gnomAD v4
22g.18078607G>CCA410265414PEX26c.230+1G>C (n.230+1G>C)
dbSNP gnomAD v4 COSMIC
22g.18078607G=CA2395402861PEX26c.230+1G= (n.230+1G=)
22g.18078607G>TCA115377PEX26c.230+1G>T (n.230+1G>T)
ClinVar dbSNP gnomAD v4
22g.18078608T>ACA410265417PEX26c.230+2T>A (n.230+2T>A)
22g.18078608T>CCA410265419PEX26c.230+2T>C (n.230+2T>C)
gnomAD v4
22g.18078608T>GCA410265421PEX26c.230+2T>G (n.230+2T>G)
22g.18078609A=CA2395402862PEX26c.230+3A= (n.230+3A=)
22g.18078609A>CCA513184658PEX26c.230+3A>C (n.230+3A>C)
22g.18078609A>GCA10093251PEX26c.230+3A>G (n.230+3A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18078609A>TCA513184659PEX26c.230+3A>T (n.230+3A>T)
22g.18078611_18078631delCA2577641363PEX26c.230+5_230+25del (n.230+5_230+25del)

Number of alleles fetched