Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18079997dupCA2655186725PEX26c.354dup (p.Lys119GlnfsTer?)
ClinVar gnomAD v4
22g.18079997delCA1139666953PEX26c.354del (p.Val120SerfsTer?)
ClinVar dbSNP 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
22g.18080038delCA2577641467PEX26c.371+24del (n.371+24del)
22g.18080040G>CCA2655186845PEX26c.371+26G>C (n.371+26G>C)
gnomAD v4
22g.18080041A=CA2395403513PEX26c.371+27A= (n.371+27A=)
22g.18080041A>CCA638320347PEX26c.371+27A>C (n.371+27A>C)
dbSNP gnomAD v2 gnomAD v4
22g.18080041A>GCA2577641468PEX26c.371+27A>G (n.371+27A>G)
22g.18080043C>ACA638320349PEX26c.371+29C>A (n.371+29C>A)
dbSNP gnomAD v2
22g.18080043C=CA2395403514PEX26c.371+29C= (n.371+29C=)
22g.18080043C>TCA10093302PEX26c.371+29C>T (n.371+29C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080044G>ACA10093303PEX26c.371+30G>A (n.371+30G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080044G=CA2395403515PEX26c.371+30G= (n.371+30G=)
22g.18080044G>TCA2577641469PEX26c.371+30G>T (n.371+30G>T)
gnomAD v4
22g.18080045G>ACA2818335274PEX26c.371+31G>A (n.371+31G>A)
22g.18080046T>ACA2395403517PEX26c.371+32T>A (n.371+32T>A)
dbSNP gnomAD v4
22g.18080046T>CCA1024000645PEX26c.371+32T>C (n.371+32T>C)
dbSNP gnomAD v3 gnomAD v4
22g.18080046T=CA2395403516PEX26c.371+32T= (n.371+32T=)
22g.18080050G>ACA10093304PEX26c.371+36G>A (n.371+36G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18080050G>CCA638320354PEX26c.371+36G>C (n.371+36G>C)
dbSNP gnomAD v2 gnomAD v4
22g.18080050G=CA2395403518PEX26c.371+36G= (n.371+36G=)
22g.18080053A=CA2395403519PEX26c.371+39A= (n.371+39A=)
22g.18080053A>GCA638320356PEX26c.371+39A>G (n.371+39A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18080053_18080054insGGGCA638320359PEX26c.371+39_371+40insGGG (n.371+39_371+40insGGG)
gnomAD v2
22g.18080053_18080054insGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCTCA1024000648PEX26c.371+39_371+40insGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCT (n.371+39_371+40insGGGCTTGCATTGCTCTTTCTAATGCCACCAGCCT)
gnomAD v3 gnomAD v4
22g.18080054C>ACA638320361PEX26c.371+40C>A (n.371+40C>A)
gnomAD v2 gnomAD v4
22g.18080054C=CA2395403520PEX26c.371+40C= (n.371+40C=)
22g.18080054C>GCA2395403521PEX26c.371+40C>G (n.371+40C>G)
dbSNP
22g.18080054C>TCA10093305PEX26c.371+40C>T (n.371+40C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080054_18080055insTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGGCA638320368PEX26c.371+40_371+41insTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGG (n.371+40_371+41insTTGCATTGCTCTTTCTAATGCCACCAGCCTCGTCTGGCAGGTGAGG)
dbSNP gnomAD v2
22g.18080055G>ACA638320369PEX26c.371+41G>A (n.371+41G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18080055G>CCA321285550PEX26c.371+41G>C (n.371+41G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18080055G=CA2395403522PEX26c.371+41G= (n.371+41G=)
22g.18080055_18080056insTCTGGCCA2655186887PEX26c.371+41_371+42insTCTGGC (n.371+41_371+42insTCTGGC)
gnomAD v4
22g.18080055_18080056insTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAAGTTGGGTTAGGCCACGCTCA1024000653PEX26c.371+41_371+42insTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAAGTTGGGTTAGGCCACGCT (n.371+41_371+42insTCTGGCAGGTGAGGGAGTCATTTCTTTGCATTGTAAAGTTGGGTTAGGCCACGCT)
gnomAD v3 gnomAD v4
22g.18080056A=CA2395403523PEX26c.371+42A= (n.371+42A=)
22g.18080056A>CCA10093306PEX26c.371+42A>C (n.371+42A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18080058A=CA2395403524PEX26c.371+44A= (n.371+44A=)
22g.18080058A>GCA321285559PEX26c.371+44A>G (n.371+44A>G)
dbSNP gnomAD v3 gnomAD v4
22g.18080061A=CA2395403525PEX26c.371+47A= (n.371+47A=)
22g.18080061A>GCA10093307PEX26c.371+47A>G (n.371+47A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18080063T>ACA751300591PEX26c.371+49T>A (n.371+49T>A)
dbSNP gnomAD v3 gnomAD v4
22g.18080063T=CA2395403526PEX26c.371+49T= (n.371+49T=)
22g.18080066C>ACA321285565PEX26c.371+52C>A (n.371+52C>A)
dbSNP gnomAD v4
22g.18080066C=CA2395403527PEX26c.371+52C= (n.371+52C=)
22g.18080066C>TCA2737538704PEX26c.371+52C>T (n.371+52C>T)
dbSNP
22g.18080067A=CA2395403528PEX26c.371+53A= (n.371+53A=)
22g.18080067A>GCA321285568PEX26c.371+53A>G (n.371+53A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18080074_18080078delCA2655186933PEX26c.371+60_371+64del (n.371+60_371+64del)
gnomAD v4
22g.18080069C>ACA2655186940PEX26c.371+55C>A (n.371+55C>A)
gnomAD v4
22g.18080069C>TCA2655186937PEX26c.371+55C>T (n.371+55C>T)
gnomAD v4
22g.18080072_18080074delCA2655186939PEX26c.371+58_371+60del (n.371+58_371+60del)
gnomAD v4
22g.18080070T>ACA2655186951PEX26c.371+56T>A (n.371+56T>A)
gnomAD v4
22g.18080070T>CCA2395403530PEX26c.371+56T>C (n.371+56T>C)
dbSNP gnomAD v4
22g.18080070T>GCA321285572PEX26c.371+56T>G (n.371+56T>G)
dbSNP gnomAD v3 gnomAD v4
22g.18080070T=CA2395403529PEX26c.371+56T= (n.371+56T=)
22g.18080071C>ACA2577641473PEX26c.371+57C>A (n.371+57C>A)
gnomAD v4
22g.18080071C>TCA2589477566PEX26c.371+57C>T (n.371+57C>T)
gnomAD v3 gnomAD v4
22g.18080072C>ACA2655186962PEX26c.371+58C>A (n.371+58C>A)
gnomAD v4
22g.18080072C>GCA2655186966PEX26c.371+58C>G (n.371+58C>G)
gnomAD v4
22g.18080075_18080076delCA2655186961PEX26c.371+61_371+62del (n.371+61_371+62del)
gnomAD v4
22g.18080073T>CCA2655186973PEX26c.371+59T>C (n.371+59T>C)
gnomAD v4
22g.18080074C>ACA2655186974PEX26c.371+60C>A (n.371+60C>A)
gnomAD v4
22g.18080074C=CA2395403531PEX26c.371+60C= (n.371+60C=)
22g.18080074C>GCA1024000659PEX26c.371+60C>G (n.371+60C>G)
dbSNP gnomAD v3 gnomAD v4
22g.18080074C>TCA2577641475PEX26c.371+60C>T (n.371+60C>T)
gnomAD v4
22g.18080075T>CCA2655186985PEX26c.371+61T>C (n.371+61T>C)
gnomAD v4
22g.18080076C>ACA2655187014PEX26c.371+62C>A (n.371+62C>A)
gnomAD v4
22g.18080076C=CA2395403532PEX26c.371+62C= (n.371+62C=)
22g.18080076C>TCA1024000660PEX26c.371+62C>T (n.371+62C>T)
dbSNP gnomAD v3 gnomAD v4
22g.18080077C>ACA2655187020PEX26c.371+63C>A (n.371+63C>A)
gnomAD v4
22g.18080077C=CA2395403533PEX26c.371+63C= (n.371+63C=)
22g.18080077C>GCA2655187023PEX26c.371+63C>G (n.371+63C>G)
gnomAD v4
22g.18080077C>TCA321285575PEX26c.371+63C>T (n.371+63C>T)
dbSNP gnomAD v3 gnomAD v4
22g.18080078T>CCA2655187026PEX26c.371+64T>C (n.371+64T>C)
gnomAD v4
22g.18080080A>GCA2655187028PEX26c.371+66A>G (n.371+66A>G)
gnomAD v4
22g.18080084C>ACA2655187030PEX26c.371+70C>A (n.371+70C>A)
gnomAD v4
22g.18080084C=CA2395403534PEX26c.371+70C= (n.371+70C=)
22g.18080084C>TCA1024000662PEX26c.371+70C>T (n.371+70C>T)
dbSNP gnomAD v3 gnomAD v4
22g.18080085C>ACA2655187032PEX26c.371+71C>A (n.371+71C>A)
gnomAD v4
22g.18080085C>TCA657684732PEX26c.371+71C>T (n.371+71C>T)
gnomAD v4 COSMIC
22g.18080086T>ACA751300596PEX26c.371+72T>A (n.371+72T>A)
dbSNP
22g.18080086T>CCA2655187035PEX26c.371+72T>C (n.371+72T>C)
gnomAD v4
22g.18080086T=CA2395403535PEX26c.371+72T= (n.371+72T=)
22g.18080087A=CA2395403536PEX26c.371+73A= (n.371+73A=)
22g.18080087A>CCA1024000665PEX26c.371+73A>C (n.371+73A>C)
dbSNP gnomAD v3 gnomAD v4
22g.18080087A>GCA2395403537PEX26c.371+73A>G (n.371+73A>G)
dbSNP
22g.18080088C>ACA2655187039PEX26c.371+74C>A (n.371+74C>A)
gnomAD v4
22g.18080088C>TCA2577641476PEX26c.371+74C>T (n.371+74C>T)
gnomAD v4
22g.18080090C>ACA2655187044PEX26c.371+76C>A (n.371+76C>A)
gnomAD v4
22g.18080090C>GCA2655187045PEX26c.371+76C>G (n.371+76C>G)
gnomAD v4
22g.18080090C>TCA638320378PEX26c.371+76C>T (n.371+76C>T)
gnomAD v2 gnomAD v4
22g.18080092T>CCA2655187052PEX26c.371+78T>C (n.371+78T>C)
gnomAD v4
22g.18080093T>CCA2655187057PEX26c.371+79T>C (n.371+79T>C)
gnomAD v4
22g.18080093T>GCA2818335279PEX26c.371+79T>G (n.371+79T>G)
22g.18080094T>CCA2395403539PEX26c.371+80T>C (n.371+80T>C)
dbSNP gnomAD v4
22g.18080094T=CA2395403538PEX26c.371+80T= (n.371+80T=)

Number of alleles fetched