Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18079935C>ACA512915339PEX26c.292C>A (p.Arg98=)
22g.18079935C=CA2395403463PEX26c.292C= (p.Arg98=)
22g.18079935C>GCA410265690PEX26c.292C>G (p.Arg98Gly)
dbSNP
22g.18079935C>TCA115367PEX26c.292C>T (p.Arg98Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.18079936G>ACA10093282PEX26c.293G>A (p.Arg98Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079936G>CCA410265691PEX26c.293G>C (p.Arg98Pro)
22g.18079936G=CA2395403464PEX26c.293G= (p.Arg98=)
22g.18079936G>TCA410265692PEX26c.293G>T (p.Arg98Leu)
22g.18079937delCA2577641464PEX26c.294del (p.Trp99GlyfsTer?)
22g.18079937G>ACA512915340PEX26c.294G>A (p.Arg98=)
22g.18079937G>CCA512915341PEX26c.294G>C (p.Arg98=)
22g.18079937G>TCA512915342PEX26c.294G>T (p.Arg98=)
22g.18079938T>ACA10093283PEX26c.295T>A (p.Trp99Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079938T>CCA410265693PEX26c.295T>C (p.Trp99Arg)
22g.18079938T>GCA410265694PEX26c.295T>G (p.Trp99Gly)
22g.18079938T=CA2395403465PEX26c.295T= (p.Trp99=)
22g.18079939G>ACA16044303PEX26c.296G>A (p.Trp99Ter)
ClinVar dbSNP
22g.18079939G>CCA10093284PEX26c.296G>C (p.Trp99Ser)
dbSNP ExAC gnomAD v2
22g.18079939G=CA2395403466PEX26c.296G= (p.Trp99=)
22g.18079939G>TCA410265695PEX26c.296G>T (p.Trp99Leu)
22g.18079940delCA2655186601PEX26c.297del (p.Trp99CysfsTer?)
gnomAD v4
22g.18079940G>ACA410265696PEX26c.297G>A (p.Trp99Ter)
ClinVar
22g.18079940G>CCA410265697PEX26c.297G>C (p.Trp99Cys)
22g.18079940G>TCA410265698PEX26c.297G>T (p.Trp99Cys)
gnomAD v4
22g.18079941C>ACA410265699PEX26c.298C>A (p.Gln100Lys)
22g.18079941C=CA2395403467PEX26c.298C= (p.Gln100=)
22g.18079941C>GCA410265700PEX26c.298C>G (p.Gln100Glu)
22g.18079941C>TCA321285437PEX26c.298C>T (p.Gln100Ter)
ClinVar dbSNP gnomAD v4
22g.18079942A>CCA410265701PEX26c.299A>C (p.Gln100Pro)
22g.18079942A>GCA410265702PEX26c.299A>G (p.Gln100Arg)
22g.18079942A>TCA410265703PEX26c.299A>T (p.Gln100Leu)
22g.18079943A>CCA410265704PEX26c.300A>C (p.Gln100His)
gnomAD v4
22g.18079943A>GCA512915344PEX26c.300A>G (p.Gln100=)
gnomAD v4
22g.18079943A>TCA410265705PEX26c.300A>T (p.Gln100His)
22g.18079944G>ACA410265708PEX26c.301G>A (p.Glu101Lys)
22g.18079944G>CCA410265707PEX26c.301G>C (p.Glu101Gln)
22g.18079944G>TCA410265706PEX26c.301G>T (p.Glu101Ter)
22g.18079945A=CA2395403468PEX26c.302A= (p.Glu101=)
22g.18079945A>CCA410265711PEX26c.302A>C (p.Glu101Ala)
22g.18079945A>GCA410265709PEX26c.302A>G (p.Glu101Gly)
22g.18079945A>TCA410265710PEX26c.302A>T (p.Glu101Val)
dbSNP gnomAD v2 gnomAD v4
22g.18079946A>CCA410265712PEX26c.303A>C (p.Glu101Asp)
22g.18079946A>GCA512915345PEX26c.303A>G (p.Glu101=)
22g.18079946A>TCA410265713PEX26c.303A>T (p.Glu101Asp)
22g.18079947G>ACA410265714PEX26c.304G>A (p.Val102Ile)
22g.18079947G>CCA410265715PEX26c.304G>C (p.Val102Leu)
22g.18079947G=CA2395403469PEX26c.304G= (p.Val102=)
22g.18079947G>TCA410265716PEX26c.304G>T (p.Val102Phe)
dbSNP
22g.18079948T>ACA410265717PEX26c.305T>A (p.Val102Asp)
22g.18079948T>CCA410265719PEX26c.305T>C (p.Val102Ala)
ClinVar
22g.18079948T>GCA410265718PEX26c.305T>G (p.Val102Gly)
22g.18079949C>ACA512915348PEX26c.306C>A (p.Val102=)
ClinVar gnomAD v4
22g.18079949C>GCA512915346PEX26c.306C>G (p.Val102=)
22g.18079949C>TCA512915347PEX26c.306C>T (p.Val102=)
22g.18079949_18079951delinsCCTCA2395403470PEX26c.306_308delinsCCT (p.Val102=)
22g.18079950C>ACA410265720PEX26c.307C>A (p.Leu103Ile)
22g.18079950C>GCA410265721PEX26c.307C>G (p.Leu103Val)
22g.18079950C>TCA410265722PEX26c.307C>T (p.Leu103Phe)
COSMIC
22g.18079953_18079954delCA10093285PEX26c.310_311del (p.Ser104LeufsTer10)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079951T>ACA410265723PEX26c.308T>A (p.Leu103His)
22g.18079951T>CCA410265725PEX26c.308T>C (p.Leu103Pro)
22g.18079951T>GCA410265724PEX26c.308T>G (p.Leu103Arg)
22g.18079952C>ACA512915349PEX26c.309C>A (p.Leu103=)
22g.18079952C>GCA512915350PEX26c.309C>G (p.Leu103=)
22g.18079952C>TCA512915351PEX26c.309C>T (p.Leu103=)
22g.18079953T>ACA10093286PEX26c.310T>A (p.Ser104Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079953T>CCA410265726PEX26c.310T>C (p.Ser104Pro)
22g.18079953T>GCA410265727PEX26c.310T>G (p.Ser104Ala)
22g.18079953T=CA2395403471PEX26c.310T= (p.Ser104=)
22g.18079954C>ACA410265728PEX26c.311C>A (p.Ser104Tyr)
22g.18079954C>GCA410265729PEX26c.311C>G (p.Ser104Cys)
22g.18079954C>TCA410265730PEX26c.311C>T (p.Ser104Phe)
22g.18079955C>ACA512915352PEX26c.312C>A (p.Ser104=)
22g.18079955C=CA2395403472PEX26c.312C= (p.Ser104=)
22g.18079955C>GCA512915353PEX26c.312C>G (p.Ser104=)
22g.18079955C>TCA512915354PEX26c.312C>T (p.Ser104=)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18079956T>ACA410265731PEX26c.313T>A (p.Trp105Arg)
22g.18079956T>CCA410265732PEX26c.313T>C (p.Trp105Arg)
gnomAD v4
22g.18079956T>GCA410265733PEX26c.313T>G (p.Trp105Gly)
22g.18079957G>ACA410265734PEX26c.314G>A (p.Trp105Ter)
gnomAD v4
22g.18079957G>CCA410265735PEX26c.314G>C (p.Trp105Ser)
22g.18079957G>TCA410265736PEX26c.314G>T (p.Trp105Leu)
gnomAD v4
22g.18079958G>ACA410265738PEX26c.315G>A (p.Trp105Ter)
22g.18079958G>CCA410265739PEX26c.315G>C (p.Trp105Cys)
22g.18079958G>TCA410265737PEX26c.315G>T (p.Trp105Cys)
22g.18079959G>ACA410265740PEX26c.316G>A (p.Val106Ile)
gnomAD v4
22g.18079959G>CCA410265742PEX26c.316G>C (p.Val106Leu)
22g.18079959G>TCA410265741PEX26c.316G>T (p.Val106Phe)
22g.18079960T>ACA410265743PEX26c.317T>A (p.Val106Asp)
22g.18079960T>CCA410265744PEX26c.317T>C (p.Val106Ala)
22g.18079960T>GCA410265745PEX26c.317T>G (p.Val106Gly)
22g.18079961C>ACA512915355PEX26c.318C>A (p.Val106=)
22g.18079961C=CA2395403473PEX26c.318C= (p.Val106=)
22g.18079961C>GCA10093287PEX26c.318C>G (p.Val106=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079961C>TCA512915356PEX26c.318C>T (p.Val106=)
22g.18079962C>ACA410265746PEX26c.319C>A (p.Leu107Ile)
22g.18079962C=CA2395403474PEX26c.319C= (p.Leu107=)
22g.18079962C>GCA410265747PEX26c.319C>G (p.Leu107Val)
22g.18079962C>TCA410265748PEX26c.319C>T (p.Leu107Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079963T>ACA410265749PEX26c.320T>A (p.Leu107His)
22g.18079963T>CCA410265750PEX26c.320T>C (p.Leu107Pro)
22g.18079963T>GCA410265751PEX26c.320T>G (p.Leu107Arg)
22g.18079964T>ACA512915360PEX26c.321T>A (p.Leu107=)
22g.18079964T>CCA512915361PEX26c.321T>C (p.Leu107=)
22g.18079964T>GCA512915362PEX26c.321T>G (p.Leu107=)
22g.18079965C>ACA410265752PEX26c.322C>A (p.Gln108Lys)
22g.18079965C>GCA410265753PEX26c.322C>G (p.Gln108Glu)
22g.18079965C>TCA410265754PEX26c.322C>T (p.Gln108Ter)
22g.18079966A>CCA410265756PEX26c.323A>C (p.Gln108Pro)
22g.18079966A>GCA410265760PEX26c.323A>G (p.Gln108Arg)
gnomAD v4
22g.18079966A>TCA410265758PEX26c.323A>T (p.Gln108Leu)
22g.18079967G>ACA512915365PEX26c.324G>A (p.Gln108=)
ClinVar dbSNP
22g.18079967G>CCA410265764PEX26c.324G>C (p.Gln108His)
22g.18079967G=CA2395403475PEX26c.324G= (p.Gln108=)
22g.18079967G>TCA410265765PEX26c.324G>T (p.Gln108His)
22g.18079968T>ACA410265768PEX26c.325T>A (p.Tyr109Asn)
22g.18079968T>CCA10093288PEX26c.325T>C (p.Tyr109His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079968T>GCA10093289PEX26c.325T>G (p.Tyr109Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079968T=CA2395403476PEX26c.325T= (p.Tyr109=)
22g.18079969A>CCA410265773PEX26c.326A>C (p.Tyr109Ser)
22g.18079969A>GCA410265776PEX26c.326A>G (p.Tyr109Cys)
22g.18079969A>TCA410265778PEX26c.326A>T (p.Tyr109Phe)
22g.18079970T>ACA410265780PEX26c.327T>A (p.Tyr109Ter)
22g.18079970T>CCA512915367PEX26c.327T>C (p.Tyr109=)
22g.18079970T>GCA410265783PEX26c.327T>G (p.Tyr109Ter)
22g.18079971T>ACA410265790PEX26c.328T>A (p.Tyr110Asn)
22g.18079971T>CCA410265789PEX26c.328T>C (p.Tyr110His)
22g.18079971T>GCA410265786PEX26c.328T>G (p.Tyr110Asp)
22g.18079971_18079973delinsTACCA2395403477PEX26c.328_330delinsTAC (p.Tyr110=)
22g.18079972A>CCA410265793PEX26c.329A>C (p.Tyr110Ser)
gnomAD v4
22g.18079972A>GCA410265794PEX26c.329A>G (p.Tyr110Cys)
22g.18079972A>TCA410265797PEX26c.329A>T (p.Tyr110Phe)
22g.18079972_18079973delCA10093290PEX26c.329_330del (p.Tyr110SerfsTer4)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079973C>ACA410265798PEX26c.330C>A (p.Tyr110Ter)
22g.18079973C=CA2395403478PEX26c.330C= (p.Tyr110=)
22g.18079973C>GCA410265801PEX26c.330C>G (p.Tyr110Ter)
ClinVar gnomAD v4
22g.18079973C>TCA512915371PEX26c.330C>T (p.Tyr110=)
dbSNP
22g.18079974C>ACA10093291PEX26c.331C>A (p.Gln111Lys)
ClinVar dbSNP ExAC gnomAD v2
22g.18079974C=CA2395403479PEX26c.331C= (p.Gln111=)
22g.18079974C>GCA410265804PEX26c.331C>G (p.Gln111Glu)
22g.18079974C>TCA410265806PEX26c.331C>T (p.Gln111Ter)
22g.18079975A=CA2395403480PEX26c.332A= (p.Gln111=)
22g.18079975A>CCA410265811PEX26c.332A>C (p.Gln111Pro)
22g.18079975A>GCA410265812PEX26c.332A>G (p.Gln111Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079975A>TCA410265815PEX26c.332A>T (p.Gln111Leu)
22g.18079976G>ACA321285496PEX26c.333G>A (p.Gln111=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079976G>CCA410265818PEX26c.333G>C (p.Gln111His)
dbSNP
22g.18079976G=CA2395403481PEX26c.333G= (p.Gln111=)
22g.18079976G>TCA410265820PEX26c.333G>T (p.Gln111His)
ClinVar
22g.18079977G>ACA410265824PEX26c.334G>A (p.Val112Ile)
22g.18079977G>CCA410265828PEX26c.334G>C (p.Val112Leu)
ClinVar dbSNP gnomAD v4
22g.18079977G=CA2395403482PEX26c.334G= (p.Val112=)
22g.18079977G>TCA410265826PEX26c.334G>T (p.Val112Phe)
22g.18079978T>ACA410265830PEX26c.335T>A (p.Val112Asp)
22g.18079978T>CCA410265833PEX26c.335T>C (p.Val112Ala)
22g.18079978T>GCA410265835PEX26c.335T>G (p.Val112Gly)
22g.18079979C>ACA512915372PEX26c.336C>A (p.Val112=)
22g.18079979C=CA2395403483PEX26c.336C= (p.Val112=)
22g.18079979C>GCA512915373PEX26c.336C>G (p.Val112=)
22g.18079979C>TCA10093292PEX26c.336C>T (p.Val112=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079980C>ACA410265841PEX26c.337C>A (p.Pro113Thr)
22g.18079980C=CA2395403484PEX26c.337C= (p.Pro113=)
22g.18079980C>GCA410265843PEX26c.337C>G (p.Pro113Ala)
22g.18079980C>TCA410265845PEX26c.337C>T (p.Pro113Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079981C>ACA410265848PEX26c.338C>A (p.Pro113His)
22g.18079981C=CA2395403485PEX26c.338C= (p.Pro113=)
22g.18079981C>GCA410265850PEX26c.338C>G (p.Pro113Arg)
22g.18079981C>TCA410265852PEX26c.338C>T (p.Pro113Leu)
dbSNP
22g.18079982T>ACA512915376PEX26c.339T>A (p.Pro113=)
22g.18079982T>CCA512915377PEX26c.339T>C (p.Pro113=)
dbSNP gnomAD v2 gnomAD v4
22g.18079982T>GCA512915378PEX26c.339T>G (p.Pro113=)
22g.18079982T=CA2395403486PEX26c.339T= (p.Pro113=)
22g.18079983G>ACA410265855PEX26c.340G>A (p.Glu114Lys)
gnomAD v4
22g.18079983G>CCA410265860PEX26c.340G>C (p.Glu114Gln)
22g.18079983G>TCA410265858PEX26c.340G>T (p.Glu114Ter)
22g.18079984A=CA2395403487PEX26c.341A= (p.Glu114=)
22g.18079984A>CCA410265864PEX26c.341A>C (p.Glu114Ala)
dbSNP
22g.18079984A>GCA410265868PEX26c.341A>G (p.Glu114Gly)
22g.18079984A>TCA410265866PEX26c.341A>T (p.Glu114Val)
22g.18079987delCA2740094768PEX26c.344del (p.Lys115SerfsTer?)
ClinVar
22g.18079985A>CCA410265871PEX26c.342A>C (p.Glu114Asp)
22g.18079985A>GCA512915382PEX26c.342A>G (p.Glu114=)
22g.18079985A>TCA410265873PEX26c.342A>T (p.Glu114Asp)
22g.18079986A=CA2395403488PEX26c.343A= (p.Lys115=)
22g.18079986A>CCA410265876PEX26c.343A>C (p.Lys115Gln)
22g.18079986A>GCA410265878PEX26c.343A>G (p.Lys115Glu)
dbSNP gnomAD v4
22g.18079986A>TCA410265879PEX26c.343A>T (p.Lys115Ter)
22g.18079987A>CCA410265882PEX26c.344A>C (p.Lys115Thr)
22g.18079987A>GCA410265884PEX26c.344A>G (p.Lys115Arg)
22g.18079987A>TCA410265886PEX26c.344A>T (p.Lys115Met)
22g.18079988G>ACA512915385PEX26c.345G>A (p.Lys115=)
gnomAD v4
22g.18079988G>CCA410265889PEX26c.345G>C (p.Lys115Asn)
22g.18079988G=CA2395403489PEX26c.345G= (p.Lys115=)
22g.18079988G>TCA410265891PEX26c.345G>T (p.Lys115Asn)
dbSNP gnomAD v2 gnomAD v4
22g.18079989C>ACA410265894PEX26c.346C>A (p.Leu116Ile)
22g.18079989C>GCA410265896PEX26c.346C>G (p.Leu116Val)
gnomAD v4
22g.18079989C>TCA512915386PEX26c.346C>T (p.Leu116=)
22g.18079990T>ACA410265902PEX26c.347T>A (p.Leu116Gln)
22g.18079990T>CCA410265900PEX26c.347T>C (p.Leu116Pro)
22g.18079990T>GCA410265899PEX26c.347T>G (p.Leu116Arg)
22g.18079991A>CCA512915391PEX26c.348A>C (p.Leu116=)
22g.18079991A>GCA512915389PEX26c.348A>G (p.Leu116=)
ClinVar dbSNP gnomAD v4
22g.18079991A>TCA512915390PEX26c.348A>T (p.Leu116=)
22g.18079991_18079992delinsACCA2395403490PEX26c.348_349delinsAC (p.Leu116=)
22g.18079992C>ACA410265906PEX26c.349C>A (p.Pro117Thr)
ClinVar dbSNP
22g.18079992C>GCA410265908PEX26c.349C>G (p.Pro117Ala)
22g.18079992C>TCA410265909PEX26c.349C>T (p.Pro117Ser)
gnomAD v4
22g.18079997dupCA2655186725PEX26c.354dup (p.Lys119GlnfsTer?)
ClinVar gnomAD v4
22g.18079997delCA1139666953PEX26c.354del (p.Val120SerfsTer?)
ClinVar dbSNP gnomAD v4
22g.18079993C>ACA410265912PEX26c.350C>A (p.Pro117His)
22g.18079993C=CA2395403491PEX26c.350C= (p.Pro117=)
22g.18079993C>GCA410265914PEX26c.350C>G (p.Pro117Arg)
22g.18079993C>TCA10093293PEX26c.350C>T (p.Pro117Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079994C>ACA512915394PEX26c.351C>A (p.Pro117=)
22g.18079994C>GCA512915396PEX26c.351C>G (p.Pro117=)
gnomAD v4
22g.18079994C>TCA512915399PEX26c.351C>T (p.Pro117=)
ClinVar dbSNP
22g.18079995C>ACA410265919PEX26c.352C>A (p.Pro118Thr)
22g.18079995C=CA2395403492PEX26c.352C= (p.Pro118=)
22g.18079995C>GCA410265922PEX26c.352C>G (p.Pro118Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079995C>TCA410265924PEX26c.352C>T (p.Pro118Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18079996C>ACA410265927PEX26c.353C>A (p.Pro118His)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18079996C=CA2395403493PEX26c.353C= (p.Pro118=)
22g.18079996C>GCA321285522PEX26c.353C>G (p.Pro118Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079996C>TCA10093294PEX26c.353C>T (p.Pro118Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079997C>ACA512915401PEX26c.354C>A (p.Pro118=)
22g.18079997C=CA2395403494PEX26c.354C= (p.Pro118=)
22g.18079997C>GCA512915402PEX26c.354C>G (p.Pro118=)
ClinVar gnomAD v4
22g.18079997C>TCA512915403PEX26c.354C>T (p.Pro118=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079998A>CCA410265934PEX26c.355A>C (p.Lys119Gln)
22g.18079998A>GCA410265937PEX26c.355A>G (p.Lys119Glu)
22g.18079998A>TCA410265933PEX26c.355A>T (p.Lys119Ter)
22g.18079999A=CA2395403495PEX26c.356A= (p.Lys119=)
22g.18079999A>CCA410265939PEX26c.356A>C (p.Lys119Thr)
COSMIC
22g.18079999A>GCA410265941PEX26c.356A>G (p.Lys119Arg)
ClinVar dbSNP
22g.18079999A>TCA410265944PEX26c.356A>T (p.Lys119Ile)
22g.18080000A>CCA410265947PEX26c.357A>C (p.Lys119Asn)
22g.18080000A>GCA512915408PEX26c.357A>G (p.Lys119=)
22g.18080000A>TCA410265949PEX26c.357A>T (p.Lys119Asn)
22g.18080001G>ACA410265952PEX26c.358G>A (p.Val120Ile)
gnomAD v4
22g.18080001G>CCA410265954PEX26c.358G>C (p.Val120Leu)
gnomAD v4
22g.18080001G>TCA410265956PEX26c.358G>T (p.Val120Phe)
22g.18080002T>ACA410265959PEX26c.359T>A (p.Val120Asp)
22g.18080002T>CCA410265961PEX26c.359T>C (p.Val120Ala)
22g.18080002T>GCA410265963PEX26c.359T>G (p.Val120Gly)
22g.18080003C>ACA512915409PEX26c.360C>A (p.Val120=)
22g.18080003C=CA2395403496PEX26c.360C= (p.Val120=)
22g.18080003C>GCA512915410PEX26c.360C>G (p.Val120=)
22g.18080003C>TCA10093295PEX26c.360C>T (p.Val120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080004C>ACA410265969PEX26c.361C>A (p.Leu121Met)
22g.18080004C>GCA410265968PEX26c.361C>G (p.Leu121Val)
22g.18080004C>TCA512915411PEX26c.361C>T (p.Leu121=)
gnomAD v4
22g.18080004_18080005delCA2695200061PEX26c.361_362del (p.Leu121GlyfsTer?)
ClinVar
22g.18080005T>ACA410265972PEX26c.362T>A (p.Leu121Gln)
22g.18080005T>CCA410265974PEX26c.362T>C (p.Leu121Pro)
22g.18080005T>GCA410265976PEX26c.362T>G (p.Leu121Arg)
22g.18080006G>ACA512915414PEX26c.363G>A (p.Leu121=)
22g.18080006G>CCA512915415PEX26c.363G>C (p.Leu121=)
22g.18080006G>TCA512915416PEX26c.363G>T (p.Leu121=)
22g.18080007G>ACA410265979PEX26c.364G>A (p.Glu122Lys)
dbSNP gnomAD v4
22g.18080007G>CCA410265981PEX26c.364G>C (p.Glu122Gln)
22g.18080007G>TCA410265982PEX26c.364G>T (p.Glu122Ter)
22g.18080008A>CCA410265984PEX26c.365A>C (p.Glu122Ala)
22g.18080008A>GCA410265987PEX26c.365A>G (p.Glu122Gly)
22g.18080008A>TCA410265989PEX26c.365A>T (p.Glu122Val)
22g.18080009G>ACA512915421PEX26c.366G>A (p.Glu122=)
22g.18080009G>CCA410265991PEX26c.366G>C (p.Glu122Asp)
22g.18080009G>TCA410265993PEX26c.366G>T (p.Glu122Asp)
22g.18080010C>ACA410265996PEX26c.367C>A (p.Leu123Met)
22g.18080010C>GCA410265998PEX26c.367C>G (p.Leu123Val)
gnomAD v4
22g.18080010C>TCA512915423PEX26c.367C>T (p.Leu123=)
22g.18080011T>ACA410266005PEX26c.368T>A (p.Leu123Gln)
22g.18080011T>CCA10588714PEX26c.368T>C (p.Leu123Pro)
ClinVar dbSNP gnomAD v4
22g.18080011T>GCA410266001PEX26c.368T>G (p.Leu123Arg)
22g.18080011T=CA2395403497PEX26c.368T= (p.Leu123=)
22g.18080012G>ACA512915427PEX26c.369G>A (p.Leu123=)
dbSNP gnomAD v4
22g.18080012G>CCA512915428PEX26c.369G>C (p.Leu123=)
22g.18080012G=CA2395403498PEX26c.369G= (p.Leu123=)
22g.18080012G>TCA512915429PEX26c.369G>T (p.Leu123=)
22g.18080013T>ACA410266009PEX26c.370T>A (p.Cys124Ser)
22g.18080013T>CCA410266014PEX26c.370T>C (p.Cys124Arg)
dbSNP
22g.18080013T>GCA410266011PEX26c.370T>G (p.Cys124Gly)
22g.18080013T=CA2395403499PEX26c.370T= (p.Cys124=)
22g.18080014G>ACA410266017PEX26c.371G>A (p.Cys124Tyr)
22g.18080014G>CCA410266019PEX26c.371G>C (p.Cys124Ser)
22g.18080014G=CA2395403500PEX26c.371G= (p.Cys124=)
22g.18080014G>TCA410266021PEX26c.371G>T (p.Cys124Phe)
22g.18080014_18080015insCATTCTTTTATACAGCAAAATCA10093296PEX26c.371_371+1insCATTCTTTTATACAGCAAAAT (n.371_371+1insCATTCTTTTATACAGCAAAAT)
dbSNP ExAC
22g.18080014_18080015insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCTCA2655186767PEX26c.371_371+1insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCT (n.371_371+1insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCT)
gnomAD v4
22g.18080015G>ACA410266026PEX26c.371+1G>A (n.371+1G>A)
22g.18080015G>CCA410266029PEX26c.371+1G>C (n.371+1G>C)
22g.18080015G>TCA410266031PEX26c.371+1G>T (n.371+1G>T)
22g.18080016T>ACA410266035PEX26c.371+2T>A (n.371+2T>A)
22g.18080016T>CCA10093297PEX26c.371+2T>C (n.371+2T>C)
dbSNP ExAC
22g.18080016T>GCA410266038PEX26c.371+2T>G (n.371+2T>G)
22g.18080016T=CA2395403501PEX26c.371+2T= (n.371+2T=)
22g.18080017A=CA2395403502PEX26c.371+3A= (n.371+3A=)
22g.18080017A>GCA2655186776PEX26c.371+3A>G (n.371+3A>G)
gnomAD v4
22g.18080017A>TCA638320340PEX26c.371+3A>T (n.371+3A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18080019G>ACA2577641465PEX26c.371+5G>A (n.371+5G>A)
gnomAD v4
22g.18080019_18080022delinsGTCTCA2395403503PEX26c.371+5_371+8delinsGTCT (n.371+5_371+8delinsGTCT)
22g.18080020T>CCA1139666954PEX26c.371+6T>C (n.371+6T>C)
ClinVar dbSNP gnomAD v4
22g.18080020T=CA2395403505PEX26c.371+6T= (n.371+6T=)
22g.18080024_18080026delCA2395403504PEX26c.371+10_371+12del (n.371+10_371+12del)
ClinVar dbSNP gnomAD v4
22g.18080022T>CCA2740094769PEX26c.371+8T>C (n.371+8T>C)
ClinVar
22g.18080022T>GCA10093298PEX26c.371+8T>G (n.371+8T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18080022T=CA2395403506PEX26c.371+8T= (n.371+8T=)
22g.18080024C>ACA751300563PEX26c.371+10C>A (n.371+10C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.18080024C=CA2395403507PEX26c.371+10C= (n.371+10C=)
22g.18080024C>GCA10093299PEX26c.371+10C>G (n.371+10C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18080025T>CCA2395403509PEX26c.371+11T>C (n.371+11T>C)
dbSNP gnomAD v4
22g.18080025T=CA2395403508PEX26c.371+11T= (n.371+11T=)
22g.18080026T>CCA10093300PEX26c.371+12T>C (n.371+12T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18080026T=CA2395403510PEX26c.371+12T= (n.371+12T=)
22g.18080027T>CCA2655186830PEX26c.371+13T>C (n.371+13T>C)
gnomAD v4
22g.18080027T>GCA2655186833PEX26c.371+13T>G (n.371+13T>G)
gnomAD v4
22g.18080028G>ACA2573157701PEX26c.371+14G>A (n.371+14G>A)
ClinVar dbSNP
22g.18080028G>CCA2741703738PEX26c.371+14G>C (n.371+14G>C)
22g.18080028G=CA2395403511PEX26c.371+14G= (n.371+14G=)
22g.18080030_18080035dupCA751300572PEX26c.371+16_371+21dup (n.371+16_371+21dup)
dbSNP gnomAD v3 gnomAD v4
22g.18080030T>CCA2655186840PEX26c.371+16T>C (n.371+16T>C)
gnomAD v4
22g.18080031G>ACA2655186842PEX26c.371+17G>A (n.371+17G>A)
gnomAD v4
22g.18080032A>GCA2655186843PEX26c.371+18A>G (n.371+18A>G)
gnomAD v4
22g.18080033C>TCA2499226010PEX26c.371+19C>T (n.371+19C>T)
ClinVar dbSNP
22g.18080034dupCA2740094770PEX26c.371+20dup (n.371+20dup)
ClinVar
22g.18080035C=CA2395403512PEX26c.371+21C= (n.371+21C=)
22g.18080035C>GCA10093301PEX26c.371+21C>G (n.371+21C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080035C>TCA2655186844PEX26c.371+21C>T (n.371+21C>T)
gnomAD v4

Number of alleles fetched