Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18526487_18526489delCA2652042598SEC23Bc.949_951del (p.Asp317del)
c.895_897del (p.Asp299del)
 gnomAD v4
20g.18526488A>CCA408360263SEC23Bc.950A>C (p.Asp317Ala)
c.896A>C (p.Asp299Ala)
20g.18526488A>GCA408360264SEC23Bc.950A>G (p.Asp317Gly)
c.896A>G (p.Asp299Gly)
20g.18526488A>TCA408360265SEC23Bc.950A>T (p.Asp317Val)
c.896A>T (p.Asp299Val)
20g.18526489T>ACA408360266SEC23Bc.951T>A (p.Asp317Glu)
c.897T>A (p.Asp299Glu)
 dbSNP gnomAD v3 gnomAD v4
20g.18526489T>CCA509826779SEC23Bc.951T>C (p.Asp317=)
c.897T>C (p.Asp299=)
20g.18526489T>GCA408360267SEC23Bc.951T>G (p.Asp317Glu)
c.897T>G (p.Asp299Glu)
20g.18526489T=CA2353557152SEC23Bc.951T= (p.Asp317=)
c.897T= (p.Asp299=)
20g.18526490A>CCA408360270SEC23Bc.952A>C (p.Ile318Leu)
c.898A>C (p.Ile300Leu)
20g.18526490A>GCA408360269SEC23Bc.952A>G (p.Ile318Val)
c.898A>G (p.Ile300Val)
 gnomAD v4
20g.18526490A>TCA408360268SEC23Bc.952A>T (p.Ile318Phe)
c.898A>T (p.Ile300Phe)
 gnomAD v4
20g.18526491T>ACA408360271SEC23Bc.953T>A (p.Ile318Asn)
c.899T>A (p.Ile300Asn)
20g.18526491T>CCA312396298SEC23Bc.953T>C (p.Ile318Thr)
c.899T>C (p.Ile300Thr)
 ClinVar dbSNP gnomAD v4
20g.18526491T>GCA408360272SEC23Bc.953T>G (p.Ile318Ser)
c.899T>G (p.Ile300Ser)
20g.18526491T=CA2353557153SEC23Bc.953T= (p.Ile318=)
c.899T= (p.Ile300=)
20g.18526492T>ACA509826782SEC23Bc.954T>A (p.Ile318=)
c.900T>A (p.Ile300=)
20g.18526492T>CCA9778170SEC23Bc.954T>C (p.Ile318=)
c.900T>C (p.Ile300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526492T>GCA408360273SEC23Bc.954T>G (p.Ile318Met)
c.900T>G (p.Ile300Met)
20g.18526492T=CA2353557154SEC23Bc.954T= (p.Ile318=)
c.900T= (p.Ile300=)
20g.18526493G>ACA312396303SEC23Bc.955G>A (p.Glu319Lys)
c.901G>A (p.Glu301Lys)
 dbSNP gnomAD v4
20g.18526493G>CCA408360274SEC23Bc.955G>C (p.Glu319Gln)
c.901G>C (p.Glu301Gln)
20g.18526493G=CA2353557155SEC23Bc.955G= (p.Glu319=)
c.901G= (p.Glu301=)
20g.18526493G>TCA408360275SEC23Bc.955G>T (p.Glu319Ter)
c.901G>T (p.Glu301Ter)
20g.18526494A>CCA408360276SEC23Bc.956A>C (p.Glu319Ala)
c.902A>C (p.Glu301Ala)
20g.18526494A>GCA408360277SEC23Bc.956A>G (p.Glu319Gly)
c.902A>G (p.Glu301Gly)
20g.18526494A>TCA408360278SEC23Bc.956A>T (p.Glu319Val)
c.902A>T (p.Glu301Val)
20g.18526495G>ACA509826785SEC23Bc.957G>A (p.Glu319=)
c.903G>A (p.Glu301=)
20g.18526495G>CCA408360279SEC23Bc.957G>C (p.Glu319Asp)
c.903G>C (p.Glu301Asp)
20g.18526495G=CA2353557156SEC23Bc.957G= (p.Glu319=)
c.903G= (p.Glu301=)
20g.18526495G>TCA9778171SEC23Bc.957G>T (p.Glu319Asp)
c.903G>T (p.Glu301Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18526496A>CCA408360280SEC23Bc.958A>C (p.Lys320Gln)
c.904A>C (p.Lys302Gln)
20g.18526496A>GCA408360281SEC23Bc.958A>G (p.Lys320Glu)
c.904A>G (p.Lys302Glu)
20g.18526496A>TCA408360282SEC23Bc.958A>T (p.Lys320Ter)
c.904A>T (p.Lys302Ter)
20g.18526497A>CCA408360283SEC23Bc.959A>C (p.Lys320Thr)
c.905A>C (p.Lys302Thr)
20g.18526497A>GCA408360284SEC23Bc.959A>G (p.Lys320Arg)
c.905A>G (p.Lys302Arg)
20g.18526497A>TCA408360285SEC23Bc.959A>T (p.Lys320Ile)
c.905A>T (p.Lys302Ile)
20g.18526498A>CCA408360286SEC23Bc.960A>C (p.Lys320Asn)
c.906A>C (p.Lys302Asn)
20g.18526498A>GCA509826790SEC23Bc.960A>G (p.Lys320=)
c.906A>G (p.Lys302=)
 ClinVar gnomAD v4
20g.18526498A>TCA408360287SEC23Bc.960A>T (p.Lys320Asn)
c.906A>T (p.Lys302Asn)
20g.18526499G>ACA408360288SEC23Bc.961G>A (p.Asp321Asn)
c.907G>A (p.Asp303Asn)
 dbSNP gnomAD v2 gnomAD v4
20g.18526499G>CCA408360289SEC23Bc.961G>C (p.Asp321His)
c.907G>C (p.Asp303His)
20g.18526499G=CA2353557157SEC23Bc.961G= (p.Asp321=)
c.907G= (p.Asp303=)
20g.18526499G>TCA408360290SEC23Bc.961G>T (p.Asp321Tyr)
c.907G>T (p.Asp303Tyr)
20g.18526500A=CA2353557158SEC23Bc.962A= (p.Asp321=)
c.908A= (p.Asp303=)
20g.18526500A>CCA408360291SEC23Bc.962A>C (p.Asp321Ala)
c.908A>C (p.Asp303Ala)
20g.18526500A>GCA408360292SEC23Bc.962A>G (p.Asp321Gly)
c.908A>G (p.Asp303Gly)
20g.18526500A>TCA408360293SEC23Bc.962A>T (p.Asp321Val)
c.908A>T (p.Asp303Val)
 dbSNP gnomAD v2
20g.18526501T>ACA408360294SEC23Bc.963T>A (p.Asp321Glu)
c.909T>A (p.Asp303Glu)
20g.18526501T>CCA509826795SEC23Bc.963T>C (p.Asp321=)
c.909T>C (p.Asp303=)
 dbSNP
20g.18526501T>GCA408360295SEC23Bc.963T>G (p.Asp321Glu)
c.909T>G (p.Asp303Glu)
20g.18526501T=CA2353557159SEC23Bc.963T= (p.Asp321=)
c.909T= (p.Asp303=)
20g.18526502A>CCA408360296SEC23Bc.964A>C (p.Asn322His)
c.910A>C (p.Asn304His)
20g.18526502A>GCA408360297SEC23Bc.964A>G (p.Asn322Asp)
c.910A>G (p.Asn304Asp)
 gnomAD v4
20g.18526502A>TCA408360298SEC23Bc.964A>T (p.Asn322Tyr)
c.910A>T (p.Asn304Tyr)
20g.18526503A=CA2353557160SEC23Bc.965A= (p.Asn322=)
c.911A= (p.Asn304=)
20g.18526503A>CCA408360299SEC23Bc.965A>C (p.Asn322Thr)
c.911A>C (p.Asn304Thr)
20g.18526503A>GCA408360300SEC23Bc.965A>G (p.Asn322Ser)
c.911A>G (p.Asn304Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.18526503A>TCA408360301SEC23Bc.965A>T (p.Asn322Ile)
c.911A>T (p.Asn304Ile)
20g.18526504T>ACA408360302SEC23Bc.966T>A (p.Asn322Lys)
c.912T>A (p.Asn304Lys)
20g.18526504T>CCA509826804SEC23Bc.966T>C (p.Asn322=)
c.912T>C (p.Asn304=)
20g.18526504T>GCA408360303SEC23Bc.966T>G (p.Asn322Lys)
c.912T>G (p.Asn304Lys)
20g.18526505G>ACA408360304SEC23Bc.967G>A (p.Ala323Thr)
c.913G>A (p.Ala305Thr)
 gnomAD v4
20g.18526505G>CCA408360305SEC23Bc.967G>C (p.Ala323Pro)
c.913G>C (p.Ala305Pro)
20g.18526505G=CA2353557161SEC23Bc.967G= (p.Ala323=)
c.913G= (p.Ala305=)
20g.18526505G>TCA9778172SEC23Bc.967G>T (p.Ala323Ser)
c.913G>T (p.Ala305Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526506C>ACA408360307SEC23Bc.968C>A (p.Ala323Glu)
c.914C>A (p.Ala305Glu)
20g.18526506C>GCA408360308SEC23Bc.968C>G (p.Ala323Gly)
c.914C>G (p.Ala305Gly)
20g.18526506C>TCA408360306SEC23Bc.968C>T (p.Ala323Val)
c.914C>T (p.Ala305Val)
 gnomAD v4
20g.18526507_18526508dupCA312396309SEC23Bc.969_970dup (p.Arg324HisfsTer4)
c.915_916dup (p.Arg306HisfsTer4)
 dbSNP
20g.18526507A>CCA509826814SEC23Bc.969A>C (p.Ala323=)
c.915A>C (p.Ala305=)
20g.18526507A>GCA509826816SEC23Bc.969A>G (p.Ala323=)
c.915A>G (p.Ala305=)
20g.18526507A>TCA509826818SEC23Bc.969A>T (p.Ala323=)
c.915A>T (p.Ala305=)
20g.18526508C>ACA509826824SEC23Bc.970C>A (p.Arg324=)
c.916C>A (p.Arg306=)
20g.18526508C=CA2353557162SEC23Bc.970C= (p.Arg324=)
c.916C= (p.Arg306=)
20g.18526508C>GCA408360309SEC23Bc.970C>G (p.Arg324Gly)
c.916C>G (p.Arg306Gly)
20g.18526508C>TCA114853SEC23Bc.970C>T (p.Arg324Ter)
c.916C>T (p.Arg306Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526509G>ACA408360310SEC23Bc.971G>A (p.Arg324Gln)
c.917G>A (p.Arg306Gln)
 gnomAD v4
20g.18526509G>CCA9778173SEC23Bc.971G>C (p.Arg324Pro)
c.917G>C (p.Arg306Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526509G=CA2353557163SEC23Bc.971G= (p.Arg324=)
c.917G= (p.Arg306=)
20g.18526509G>TCA408360311SEC23Bc.971G>T (p.Arg324Leu)
c.917G>T (p.Arg306Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.18526510A>CCA509826837SEC23Bc.972A>C (p.Arg324=)
c.918A>C (p.Arg306=)
20g.18526510A>GCA509826840SEC23Bc.972A>G (p.Arg324=)
c.918A>G (p.Arg306=)
20g.18526510A>TCA509826842SEC23Bc.972A>T (p.Arg324=)
c.918A>T (p.Arg306=)
20g.18526511T>ACA408360312SEC23Bc.973T>A (p.Phe325Ile)
c.919T>A (p.Phe307Ile)
20g.18526511T>CCA9778174SEC23Bc.973T>C (p.Phe325Leu)
c.919T>C (p.Phe307Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526511T>GCA408360313SEC23Bc.973T>G (p.Phe325Val)
c.919T>G (p.Phe307Val)
20g.18526511T=CA2353557164SEC23Bc.973T= (p.Phe325=)
c.919T= (p.Phe307=)
20g.18526512T>ACA408360314SEC23Bc.974T>A (p.Phe325Tyr)
c.920T>A (p.Phe307Tyr)
20g.18526512T>CCA408360315SEC23Bc.974T>C (p.Phe325Ser)
c.920T>C (p.Phe307Ser)
20g.18526512T>GCA408360316SEC23Bc.974T>G (p.Phe325Cys)
c.920T>G (p.Phe307Cys)
20g.18526513C>ACA408360317SEC23Bc.975C>A (p.Phe325Leu)
c.921C>A (p.Phe307Leu)
 gnomAD v4
20g.18526513C>GCA408360318SEC23Bc.975C>G (p.Phe325Leu)
c.921C>G (p.Phe307Leu)
20g.18526513C>TCA509826851SEC23Bc.975C>T (p.Phe325=)
c.921C>T (p.Phe307=)
20g.18526514A=CA2353557165SEC23Bc.976A= (p.Met326=)
c.922A= (p.Met308=)
20g.18526514A>CCA408360321SEC23Bc.976A>C (p.Met326Leu)
c.922A>C (p.Met308Leu)
20g.18526514A>GCA408360319SEC23Bc.976A>G (p.Met326Val)
c.922A>G (p.Met308Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526514A>TCA408360320SEC23Bc.976A>T (p.Met326Leu)
c.922A>T (p.Met308Leu)
20g.18526515T>ACA408360322SEC23Bc.977T>A (p.Met326Lys)
c.923T>A (p.Met308Lys)
20g.18526515T>CCA408360323SEC23Bc.977T>C (p.Met326Thr)
c.923T>C (p.Met308Thr)
20g.18526515T>GCA408360324SEC23Bc.977T>G (p.Met326Arg)
c.923T>G (p.Met308Arg)
20g.18526516G>ACA408360325SEC23Bc.978G>A (p.Met326Ile)
c.924G>A (p.Met308Ile)
20g.18526516G>CCA408360326SEC23Bc.978G>C (p.Met326Ile)
c.924G>C (p.Met308Ile)
20g.18526516G>TCA408360327SEC23Bc.978G>T (p.Met326Ile)
c.924G>T (p.Met308Ile)
20g.18526517A>CCA408360328SEC23Bc.979A>C (p.Lys327Gln)
c.925A>C (p.Lys309Gln)
20g.18526517A>GCA408360329SEC23Bc.979A>G (p.Lys327Glu)
c.925A>G (p.Lys309Glu)
20g.18526517A>TCA408360330SEC23Bc.979A>T (p.Lys327Ter)
c.925A>T (p.Lys309Ter)
20g.18526521dupCA2740097034SEC23Bc.983dup (p.Ala329GlyfsTer6)
c.983dup (p.Ala329GlyfsTer?)
c.929dup (p.Ala311GlyfsTer6)
 ClinVar
20g.18526518A=CA2353557166SEC23Bc.980A= (p.Lys327=)
c.926A= (p.Lys309=)
20g.18526518A>CCA408360331SEC23Bc.980A>C (p.Lys327Thr)
c.926A>C (p.Lys309Thr)
20g.18526518A>GCA9778175SEC23Bc.980A>G (p.Lys327Arg)
c.926A>G (p.Lys309Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526518A>TCA408360332SEC23Bc.980A>T (p.Lys327Ile)
c.926A>T (p.Lys309Ile)
20g.18526519A=CA2353557167SEC23Bc.981A= (p.Lys327=)
c.927A= (p.Lys309=)
20g.18526519A>CCA408360333SEC23Bc.981A>C (p.Lys327Asn)
c.927A>C (p.Lys309Asn)
20g.18526519A>GCA509826879SEC23Bc.981A>G (p.Lys327=)
c.927A>G (p.Lys309=)
20g.18526519A>TCA408360334SEC23Bc.981A>T (p.Lys327Asn)
c.927A>T (p.Lys309Asn)
20g.18526519_18526520insTCGTGCATTCATGCA2353557168SEC23Bc.981_982insTCGTGCATTCATG (p.Lys328SerfsTer11)
c.981_982insTCGTGCATTCATG (p.Lys328SerfsTer?)
c.927_928insTCGTGCATTCATG (p.Lys310SerfsTer11)
 dbSNP
20g.18526520A>CCA408360335SEC23Bc.982A>C (p.Lys328Gln)
c.928A>C (p.Lys310Gln)
20g.18526520A>GCA408360336SEC23Bc.982A>G (p.Lys328Glu)
c.928A>G (p.Lys310Glu)
20g.18526520A>TCA408360337SEC23Bc.982A>T (p.Lys328Ter)
c.928A>T (p.Lys310Ter)
20g.18526521A=CA2353557169SEC23Bc.983A= (p.Lys328=)
c.929A= (p.Lys310=)
20g.18526521A>CCA408360338SEC23Bc.983A>C (p.Lys328Thr)
c.929A>C (p.Lys310Thr)
20g.18526521A>GCA408360339SEC23Bc.983A>G (p.Lys328Arg)
c.929A>G (p.Lys310Arg)
 gnomAD v4
20g.18526521A>TCA408360340SEC23Bc.983A>T (p.Lys328Met)
c.929A>T (p.Lys310Met)
 dbSNP gnomAD v2 gnomAD v4
20g.18526522G>ACA509826897SEC23Bc.984G>A (p.Lys328=)
c.930G>A (p.Lys310=)
 dbSNP
20g.18526522G>CCA408360342SEC23Bc.984G>C (p.Lys328Asn)
c.930G>C (p.Lys310Asn)
20g.18526522G=CA2353557170SEC23Bc.984G= (p.Lys328=)
c.930G= (p.Lys310=)
20g.18526522G>TCA408360341SEC23Bc.984G>T (p.Lys328Asn)
c.930G>T (p.Lys310Asn)
20g.18526523G>ACA408360343SEC23Bc.985G>A (p.Ala329Thr)
c.931G>A (p.Ala311Thr)
 gnomAD v4
20g.18526523G>CCA9778177SEC23Bc.985G>C (p.Ala329Pro)
c.931G>C (p.Ala311Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526523G=CA2353557171SEC23Bc.985G= (p.Ala329=)
c.931G= (p.Ala311=)
20g.18526523G>TCA9778176SEC23Bc.985G>T (p.Ala329Ser)
c.931G>T (p.Ala311Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526524C>ACA408360344SEC23Bc.986C>A (p.Ala329Glu)
c.932C>A (p.Ala311Glu)
20g.18526524C=CA2353557172SEC23Bc.986C= (p.Ala329=)
c.932C= (p.Ala311=)
20g.18526524C>GCA408360345SEC23Bc.986C>G (p.Ala329Gly)
c.932C>G (p.Ala311Gly)
20g.18526524C>TCA408360346SEC23Bc.986C>T (p.Ala329Val)
c.932C>T (p.Ala311Val)
20g.18526525A>CCA509826904SEC23Bc.987A>C (p.Ala329=)
c.933A>C (p.Ala311=)
20g.18526525A>GCA509826908SEC23Bc.987A>G (p.Ala329=)
c.933A>G (p.Ala311=)
20g.18526525A>TCA509826912SEC23Bc.987A>T (p.Ala329=)
c.933A>T (p.Ala311=)
20g.18526525_18526526insTACA2353557173SEC23Bc.987_988insTA (p.Thr330Ter)
c.933_934insTA (p.Thr312Ter)
 dbSNP
20g.18526526A=CA2353557174SEC23Bc.988A= (p.Thr330=)
c.934A= (p.Thr312=)
20g.18526526A>CCA408360347SEC23Bc.988A>C (p.Thr330Pro)
c.934A>C (p.Thr312Pro)
 dbSNP
20g.18526526A>GCA408360349SEC23Bc.988A>G (p.Thr330Ala)
c.934A>G (p.Thr312Ala)
 gnomAD v4
20g.18526526A>TCA408360348SEC23Bc.988A>T (p.Thr330Ser)
c.934A>T (p.Thr312Ser)
20g.18526527C>ACA408360350SEC23Bc.989C>A (p.Thr330Asn)
c.935C>A (p.Thr312Asn)
20g.18526527C=CA2353557175SEC23Bc.989C= (p.Thr330=)
c.935C= (p.Thr312=)
20g.18526527C>GCA408360351SEC23Bc.989C>G (p.Thr330Ser)
c.935C>G (p.Thr312Ser)
20g.18526527C>TCA9778178SEC23Bc.989C>T (p.Thr330Ile)
c.935C>T (p.Thr312Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526528C>ACA9778180SEC23Bc.990C>A (p.Thr330=)
c.936C>A (p.Thr312=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526528C=CA2353557176SEC23Bc.990C= (p.Thr330=)
c.936C= (p.Thr312=)
20g.18526528C>GCA509826929SEC23Bc.990C>G (p.Thr330=)
c.936C>G (p.Thr312=)
20g.18526528C>TCA9778179SEC23Bc.990C>T (p.Thr330=)
c.936C>T (p.Thr312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526529A=CA2353557177SEC23Bc.991A= (p.Lys331=)
c.937A= (p.Lys313=)
20g.18526529A>CCA9778181SEC23Bc.991A>C (p.Lys331Gln)
c.937A>C (p.Lys313Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526529A>GCA408360352SEC23Bc.991A>G (p.Lys331Glu)
c.937A>G (p.Lys313Glu)
20g.18526529A>TCA408360353SEC23Bc.991A>T (p.Lys331Ter)
c.937A>T (p.Lys313Ter)
20g.18526530A>CCA408360354SEC23Bc.992A>C (p.Lys331Thr)
c.938A>C (p.Lys313Thr)
20g.18526530A>GCA408360355SEC23Bc.992A>G (p.Lys331Arg)
c.938A>G (p.Lys313Arg)
20g.18526530A>TCA408360356SEC23Bc.992A>T (p.Lys331Met)
c.938A>T (p.Lys313Met)
20g.18526531G>ACA509826942SEC23Bc.993G>A (p.Lys331=)
c.939G>A (p.Lys313=)
20g.18526531G>CCA408360357SEC23Bc.993G>C (p.Lys331Asn)
c.939G>C (p.Lys313Asn)
20g.18526531G>TCA408360358SEC23Bc.993G>T (p.Lys331Asn)
c.939G>T (p.Lys313Asn)
20g.18526532G>ACA408360359SEC23Bc.993+1G>A (n.993+1G>A)
c.939+1G>A (n.939+1G>A)
 gnomAD v4
20g.18526532G>CCA408360361SEC23Bc.993+1G>C (n.993+1G>C)
c.939+1G>C (n.939+1G>C)
20g.18526532G>TCA408360360SEC23Bc.993+1G>T (n.993+1G>T)
c.939+1G>T (n.939+1G>T)
20g.18526533T>ACA408360362SEC23Bc.993+2T>A (n.993+2T>A)
c.939+2T>A (n.939+2T>A)
20g.18526533T>CCA408360364SEC23Bc.993+2T>C (n.993+2T>C)
c.939+2T>C (n.939+2T>C)
20g.18526533T>GCA408360363SEC23Bc.993+2T>G (n.993+2T>G)
c.939+2T>G (n.939+2T>G)
20g.18526536G>ACA2652042655SEC23Bc.993+5G>A (n.993+5G>A)
c.939+5G>A (n.939+5G>A)
 gnomAD v4
20g.18526538G>ACA9778182SEC23Bc.993+7G>A (n.993+7G>A)
c.939+7G>A (n.939+7G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.18526538G=CA2353557178SEC23Bc.993+7G= (n.993+7G=)
c.939+7G= (n.939+7G=)
20g.18526538G>TCA2695229329SEC23Bc.993+7G>T (n.993+7G>T)
c.939+7G>T (n.939+7G>T)
20g.18526539C=CA2353557179SEC23Bc.993+8C= (n.993+8C=)
c.939+8C= (n.939+8C=)
20g.18526539C>GCA9778183SEC23Bc.993+8C>G (n.993+8C>G)
c.939+8C>G (n.939+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526539C>TCA2652042656SEC23Bc.993+8C>T (n.993+8C>T)
c.939+8C>T (n.939+8C>T)
 ClinVar gnomAD v4
20g.18526541C=CA2353557180SEC23Bc.993+10C= (n.993+10C=)
c.939+10C= (n.939+10C=)
20g.18526541C>GCA9778184SEC23Bc.993+10C>G (n.993+10C>G)
c.939+10C>G (n.939+10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526542T>CCA1015922528SEC23Bc.993+11T>C (n.993+11T>C)
c.939+11T>C (n.939+11T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.18526542T=CA2353557181SEC23Bc.993+11T= (n.993+11T=)
c.939+11T= (n.939+11T=)
20g.18526544G>CCA9778185SEC23Bc.993+13G>C (n.993+13G>C)
c.939+13G>C (n.939+13G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526544G=CA2353557182SEC23Bc.993+13G= (n.993+13G=)
c.939+13G= (n.939+13G=)
20g.18526545G>ACA2353557184SEC23Bc.993+14G>A (n.993+14G>A)
c.939+14G>A (n.939+14G>A)
 ClinVar dbSNP gnomAD v4
20g.18526545G=CA2353557183SEC23Bc.993+14G= (n.993+14G=)
c.939+14G= (n.939+14G=)
20g.18526546G>ACA9778186SEC23Bc.993+15G>A (n.993+15G>A)
c.939+15G>A (n.939+15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526546G>CCA9778187SEC23Bc.993+15G>C (n.993+15G>C)
c.939+15G>C (n.939+15G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526546G=CA2353557185SEC23Bc.993+15G= (n.993+15G=)
c.939+15G= (n.939+15G=)
20g.18526548A=CA2353557186SEC23Bc.993+17A= (n.993+17A=)
c.939+17A= (n.939+17A=)
20g.18526548A>GCA2353557187SEC23Bc.993+17A>G (n.993+17A>G)
c.939+17A>G (n.939+17A>G)
 dbSNP
20g.18526550G>ACA9778188SEC23Bc.993+19G>A (n.993+19G>A)
c.939+19G>A (n.939+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526550G>CCA2580626675SEC23Bc.993+19G>C (n.993+19G>C)
c.939+19G>C (n.939+19G>C)
20g.18526550G=CA2353557188SEC23Bc.993+19G= (n.993+19G=)
c.939+19G= (n.939+19G=)
20g.18526550G>TCA2580626676SEC23Bc.993+19G>T (n.993+19G>T)
c.939+19G>T (n.939+19G>T)
20g.18526552G>ACA2652042657SEC23Bc.993+21G>A (n.993+21G>A)
c.939+21G>A (n.939+21G>A)
 gnomAD v4
20g.18526552G>CCA9778189SEC23Bc.993+21G>C (n.993+21G>C)
c.939+21G>C (n.939+21G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526552G=CA2353557189SEC23Bc.993+21G= (n.993+21G=)
c.939+21G= (n.939+21G=)
20g.18526552G>TCA312396360SEC23Bc.993+21G>T (n.993+21G>T)
c.939+21G>T (n.939+21G>T)
 dbSNP gnomAD v4
20g.18526553delCA2652042658SEC23Bc.993+22del (n.993+22del)
c.939+22del (n.939+22del)
 gnomAD v4
20g.18526554T>CCA2652042659SEC23Bc.993+23T>C (n.993+23T>C)
c.939+23T>C (n.939+23T>C)
 gnomAD v4
20g.18526555G>ACA9778190SEC23Bc.993+24G>A (n.993+24G>A)
c.939+24G>A (n.939+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526555G=CA2353557190SEC23Bc.993+24G= (n.993+24G=)
c.939+24G= (n.939+24G=)
20g.18526556T>ACA9778191SEC23Bc.993+25T>A (n.993+25T>A)
c.939+25T>A (n.939+25T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526556T=CA2353557191SEC23Bc.993+25T= (n.993+25T=)
c.939+25T= (n.939+25T=)
20g.18526561C>ACA2508372071SEC23Bc.993+30C>A (n.993+30C>A)
c.939+30C>A (n.939+30C>A)
20g.18526561C=CA2353557192SEC23Bc.993+30C= (n.993+30C=)
c.939+30C= (n.939+30C=)
20g.18526561C>GCA2652042660SEC23Bc.993+30C>G (n.993+30C>G)
c.939+30C>G (n.939+30C>G)
 gnomAD v4
20g.18526561C>TCA741791794SEC23Bc.993+30C>T (n.993+30C>T)
c.939+30C>T (n.939+30C>T)
 dbSNP
20g.18526567G=CA2353557193SEC23Bc.993+36G= (n.993+36G=)
c.939+36G= (n.939+36G=)
20g.18526567G>TCA509826959SEC23Bc.993+36G>T (n.993+36G>T)
c.939+36G>T (n.939+36G>T)
 dbSNP gnomAD v4
20g.18526571A=CA2353557194SEC23Bc.993+40A= (n.993+40A=)
c.939+40A= (n.939+40A=)
20g.18526571A>GCA9778192SEC23Bc.993+40A>G (n.993+40A>G)
c.939+40A>G (n.939+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526574G>ACA2652042661SEC23Bc.993+43G>A (n.993+43G>A)
c.939+43G>A (n.939+43G>A)
 gnomAD v4
20g.18526574G>CCA2577347479SEC23Bc.993+43G>C (n.993+43G>C)
c.939+43G>C (n.939+43G>C)
20g.18526576C>ACA741791798SEC23Bc.993+45C>A (n.993+45C>A)
c.939+45C>A (n.939+45C>A)
 dbSNP gnomAD v3 gnomAD v4
20g.18526576C=CA2353557195SEC23Bc.993+45C= (n.993+45C=)
c.939+45C= (n.939+45C=)
20g.18526576C>TCA312396368SEC23Bc.993+45C>T (n.993+45C>T)
c.939+45C>T (n.939+45C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526578G>ACA312396371SEC23Bc.993+47G>A (n.993+47G>A)
c.939+47G>A (n.939+47G>A)
 dbSNP
20g.18526578G=CA2353557196SEC23Bc.993+47G= (n.993+47G=)
c.939+47G= (n.939+47G=)
20g.18526582T>ACA2652042662SEC23Bc.993+51T>A (n.993+51T>A)
c.939+51T>A (n.939+51T>A)
 gnomAD v4
20g.18526583G>CCA741791802SEC23Bc.993+52G>C (n.993+52G>C)
c.939+52G>C (n.939+52G>C)
 dbSNP gnomAD v4
20g.18526583G=CA2353557197SEC23Bc.993+52G= (n.993+52G=)
c.939+52G= (n.939+52G=)
20g.18526583G>TCA2652042663SEC23Bc.993+52G>T (n.993+52G>T)
c.939+52G>T (n.939+52G>T)
 gnomAD v4
20g.18526584G>ACA2652042664SEC23Bc.993+53G>A (n.993+53G>A)
c.939+53G>A (n.939+53G>A)
 gnomAD v4
20g.18526585G>ACA2353557199SEC23Bc.993+54G>A (n.993+54G>A)
c.939+54G>A (n.939+54G>A)
 dbSNP gnomAD v4
20g.18526585G=CA2353557198SEC23Bc.993+54G= (n.993+54G=)
c.939+54G= (n.939+54G=)
20g.18526586C>ACA2652042667SEC23Bc.993+55C>A (n.993+55C>A)
c.939+55C>A (n.939+55C>A)
 gnomAD v4
20g.18526586C>GCA2652042665SEC23Bc.993+55C>G (n.993+55C>G)
c.939+55C>G (n.939+55C>G)
 gnomAD v4
20g.18526586C>TCA2652042666SEC23Bc.993+55C>T (n.993+55C>T)
c.939+55C>T (n.939+55C>T)
 gnomAD v4
20g.18526587T>CCA1015922542SEC23Bc.993+56T>C (n.993+56T>C)
c.939+56T>C (n.939+56T>C)
 dbSNP gnomAD v3 gnomAD v4
20g.18526587T>GCA2652042668SEC23Bc.993+56T>G (n.993+56T>G)
c.939+56T>G (n.939+56T>G)
 gnomAD v4
20g.18526587T=CA2353557200SEC23Bc.993+56T= (n.993+56T=)
c.939+56T= (n.939+56T=)
20g.18526588G>ACA2652042669SEC23Bc.993+57G>A (n.993+57G>A)
c.939+57G>A (n.939+57G>A)
 gnomAD v4

Number of alleles fetched