Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18526309A=CA2353557083SEC23Bc.835-64A= (n.835-64A=)
c.781-64A= (n.781-64A=)
20g.18526309A>TCA914596062SEC23Bc.835-64A>T (n.835-64A>T)
c.781-64A>T (n.781-64A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526310A=CA2353557084SEC23Bc.835-63A= (n.835-63A=)
c.781-63A= (n.781-63A=)
20g.18526310A>GCA312396226SEC23Bc.835-63A>G (n.835-63A>G)
c.781-63A>G (n.781-63A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.18526311A=CA2353557085SEC23Bc.835-62A= (n.835-62A=)
c.781-62A= (n.781-62A=)
20g.18526311A>CCA741791414SEC23Bc.835-62A>C (n.835-62A>C)
c.781-62A>C (n.781-62A>C)
 dbSNP gnomAD v3 gnomAD v4
20g.18526311A>GCA312396228SEC23Bc.835-62A>G (n.835-62A>G)
c.781-62A>G (n.781-62A>G)
 dbSNP
20g.18526312C>ACA2652042435SEC23Bc.835-61C>A (n.835-61C>A)
c.781-61C>A (n.781-61C>A)
 gnomAD v4
20g.18526312C=CA2353557086SEC23Bc.835-61C= (n.835-61C=)
c.781-61C= (n.781-61C=)
20g.18526312C>GCA2353557087SEC23Bc.835-61C>G (n.835-61C>G)
c.781-61C>G (n.781-61C>G)
 dbSNP gnomAD v4
20g.18526312C>TCA2652042436SEC23Bc.835-61C>T (n.835-61C>T)
c.781-61C>T (n.781-61C>T)
 gnomAD v4
20g.18526314G>ACA741791419SEC23Bc.835-59G>A (n.835-59G>A)
c.781-59G>A (n.781-59G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.18526314G=CA2353557088SEC23Bc.835-59G= (n.835-59G=)
c.781-59G= (n.781-59G=)
20g.18526315A=CA2353557089SEC23Bc.835-58A= (n.835-58A=)
c.781-58A= (n.781-58A=)
20g.18526315A>GCA635265083SEC23Bc.835-58A>G (n.835-58A>G)
c.781-58A>G (n.781-58A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526316A>GCA2577347475SEC23Bc.835-57A>G (n.835-57A>G)
c.781-57A>G (n.781-57A>G)
20g.18526317A>CCA2652042437SEC23Bc.835-56A>C (n.835-56A>C)
c.781-56A>C (n.781-56A>C)
 gnomAD v4
20g.18526318C>ACA2652042438SEC23Bc.835-55C>A (n.835-55C>A)
c.781-55C>A (n.781-55C>A)
 gnomAD v4
20g.18526320A=CA2353557090SEC23Bc.835-53A= (n.835-53A=)
c.781-53A= (n.781-53A=)
20g.18526320A>GCA2353557091SEC23Bc.835-53A>G (n.835-53A>G)
c.781-53A>G (n.781-53A>G)
 dbSNP gnomAD v4
20g.18526322A=CA2353557092SEC23Bc.835-51A= (n.835-51A=)
c.781-51A= (n.781-51A=)
20g.18526322A>GCA9778139SEC23Bc.835-51A>G (n.835-51A>G)
c.781-51A>G (n.781-51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526323C>ACA2652042440SEC23Bc.835-50C>A (n.835-50C>A)
c.781-50C>A (n.781-50C>A)
 gnomAD v4
20g.18526323C=CA2353557093SEC23Bc.835-50C= (n.835-50C=)
c.781-50C= (n.781-50C=)
20g.18526323C>TCA635265084SEC23Bc.835-50C>T (n.835-50C>T)
c.781-50C>T (n.781-50C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.18526324T>CCA1015922446SEC23Bc.835-49T>C (n.835-49T>C)
c.781-49T>C (n.781-49T>C)
 dbSNP gnomAD v3 gnomAD v4
20g.18526324T=CA2353557094SEC23Bc.835-49T= (n.835-49T=)
c.781-49T= (n.781-49T=)
20g.18526325A>GCA2577347476SEC23Bc.835-48A>G (n.835-48A>G)
c.781-48A>G (n.781-48A>G)
20g.18526328delCA2652042442SEC23Bc.835-45del (n.835-45del)
c.781-45del (n.781-45del)
 gnomAD v4
20g.18526326A=CA2353557095SEC23Bc.835-47A= (n.835-47A=)
c.781-47A= (n.781-47A=)
20g.18526326A>CCA9778140SEC23Bc.835-47A>C (n.835-47A>C)
c.781-47A>C (n.781-47A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526330G>ACA9778141SEC23Bc.835-43G>A (n.835-43G>A)
c.781-43G>A (n.781-43G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526330G=CA2353557096SEC23Bc.835-43G= (n.835-43G=)
c.781-43G= (n.781-43G=)
20g.18526330G>TCA2652042444SEC23Bc.835-43G>T (n.835-43G>T)
c.781-43G>T (n.781-43G>T)
 gnomAD v4
20g.18526331T>CCA509826622SEC23Bc.835-42T>C (n.835-42T>C)
c.781-42T>C (n.781-42T>C)
 dbSNP gnomAD v2 gnomAD v4
20g.18526331T=CA2353557097SEC23Bc.835-42T= (n.835-42T=)
c.781-42T= (n.781-42T=)
20g.18526332G>ACA635265085SEC23Bc.835-41G>A (n.835-41G>A)
c.781-41G>A (n.781-41G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.18526332G>CCA657553980SEC23Bc.835-41G>C (n.835-41G>C)
c.781-41G>C (n.781-41G>C)
 COSMIC
20g.18526332G=CA2353557098SEC23Bc.835-41G= (n.835-41G=)
c.781-41G= (n.781-41G=)
20g.18526334G>ACA9778142SEC23Bc.835-39G>A (n.835-39G>A)
c.781-39G>A (n.781-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526334G=CA2353557099SEC23Bc.835-39G= (n.835-39G=)
c.781-39G= (n.781-39G=)
20g.18526335G>ACA9778143SEC23Bc.835-38G>A (n.835-38G>A)
c.781-38G>A (n.781-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526335G>CCA2577347477SEC23Bc.835-38G>C (n.835-38G>C)
c.781-38G>C (n.781-38G>C)
20g.18526335G=CA2353557100SEC23Bc.835-38G= (n.835-38G=)
c.781-38G= (n.781-38G=)
20g.18526336C>ACA2513243580SEC23Bc.835-37C>A (n.835-37C>A)
c.781-37C>A (n.781-37C>A)
20g.18526336C>GCA2652042450SEC23Bc.835-37C>G (n.835-37C>G)
c.781-37C>G (n.781-37C>G)
 gnomAD v4
20g.18526338G>ACA9778144SEC23Bc.835-35G>A (n.835-35G>A)
c.781-35G>A (n.781-35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526338G=CA2353557101SEC23Bc.835-35G= (n.835-35G=)
c.781-35G= (n.781-35G=)
20g.18526340A>GCA2652042451SEC23Bc.835-33A>G (n.835-33A>G)
c.781-33A>G (n.781-33A>G)
 gnomAD v4
20g.18526342A=CA2353557102SEC23Bc.835-31A= (n.835-31A=)
c.781-31A= (n.781-31A=)
20g.18526342A>GCA312396239SEC23Bc.835-31A>G (n.835-31A>G)
c.781-31A>G (n.781-31A>G)
 dbSNP gnomAD v3 gnomAD v4
20g.18526344T>CCA2652042453SEC23Bc.835-29T>C (n.835-29T>C)
c.781-29T>C (n.781-29T>C)
 gnomAD v4
20g.18526345T=CA2353557103SEC23Bc.835-28T= (n.835-28T=)
c.781-28T= (n.781-28T=)
20g.18526346C>GCA2652042454SEC23Bc.835-27C>G (n.835-27C>G)
c.781-27C>G (n.781-27C>G)
 gnomAD v4
20g.18526348_18526355dupCA635265086SEC23Bc.835-25_835-18dup (n.835-25_835-18dup)
c.781-25_781-18dup (n.781-25_781-18dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.18526347T>CCA312396242SEC23Bc.835-26T>C (n.835-26T>C)
c.781-26T>C (n.781-26T>C)
 dbSNP
20g.18526347T=CA2353557104SEC23Bc.835-26T= (n.835-26T=)
c.781-26T= (n.781-26T=)
20g.18526350C=CA2353557105SEC23Bc.835-23C= (n.835-23C=)
c.781-23C= (n.781-23C=)
20g.18526350C>TCA9778145SEC23Bc.835-23C>T (n.835-23C>T)
c.781-23C>T (n.781-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526351A=CA2353557106SEC23Bc.835-22A= (n.835-22A=)
c.781-22A= (n.781-22A=)
20g.18526351A>GCA2652042458SEC23Bc.835-22A>G (n.835-22A>G)
c.781-22A>G (n.781-22A>G)
 gnomAD v4
20g.18526351A>TCA9778146SEC23Bc.835-22A>T (n.835-22A>T)
c.781-22A>T (n.781-22A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526356G>ACA741791442SEC23Bc.835-17G>A (n.835-17G>A)
c.781-17G>A (n.781-17G>A)
 dbSNP
20g.18526356G=CA2353557107SEC23Bc.835-17G= (n.835-17G=)
c.781-17G= (n.781-17G=)
20g.18526357C>ACA2652042459SEC23Bc.835-16C>A (n.835-16C>A)
c.781-16C>A (n.781-16C>A)
 gnomAD v4
20g.18526359A>GCA2652042461SEC23Bc.835-14A>G (n.835-14A>G)
c.781-14A>G (n.781-14A>G)
 gnomAD v4
20g.18526362C=CA2353557108SEC23Bc.835-11C= (n.835-11C=)
c.781-11C= (n.781-11C=)
20g.18526362C>TCA9778147SEC23Bc.835-11C>T (n.835-11C>T)
c.781-11C>T (n.781-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526363G>ACA509826625SEC23Bc.835-10G>A (n.835-10G>A)
c.781-10G>A (n.781-10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.18526363G>CCA2577347478SEC23Bc.835-10G>C (n.835-10G>C)
c.781-10G>C (n.781-10G>C)
20g.18526363G=CA2353557109SEC23Bc.835-10G= (n.835-10G=)
c.781-10G= (n.781-10G=)
20g.18526365T>CCA9778148SEC23Bc.835-8T>C (n.835-8T>C)
c.781-8T>C (n.781-8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526365T=CA2353557110SEC23Bc.835-8T= (n.835-8T=)
c.781-8T= (n.781-8T=)
20g.18526366A=CA2353557111SEC23Bc.835-7A= (n.835-7A=)
c.781-7A= (n.781-7A=)
20g.18526366A>CCA2652042468SEC23Bc.835-7A>C (n.835-7A>C)
c.781-7A>C (n.781-7A>C)
 gnomAD v4
20g.18526366A>GCA9778149SEC23Bc.835-7A>G (n.835-7A>G)
c.781-7A>G (n.781-7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526368T>CCA2652042471SEC23Bc.835-5T>C (n.835-5T>C)
c.781-5T>C (n.781-5T>C)
 gnomAD v4
20g.18526369T>ACA2652042473SEC23Bc.835-4T>A (n.835-4T>A)
c.781-4T>A (n.781-4T>A)
 gnomAD v4
20g.18526369T>GCA9778150SEC23Bc.835-4T>G (n.835-4T>G)
c.781-4T>G (n.781-4T>G)
 dbSNP ExAC
20g.18526369T=CA2353557112SEC23Bc.835-4T= (n.835-4T=)
c.781-4T= (n.781-4T=)
20g.18526370T>CCA2652042476SEC23Bc.835-3T>C (n.835-3T>C)
c.781-3T>C (n.781-3T>C)
 gnomAD v4
20g.18526370T>GCA9778151SEC23Bc.835-3T>G (n.835-3T>G)
c.781-3T>G (n.781-3T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526370T=CA2353557113SEC23Bc.835-3T= (n.835-3T=)
c.781-3T= (n.781-3T=)
20g.18526371A=CA2353557114SEC23Bc.835-2A= (n.835-2A=)
c.781-2A= (n.781-2A=)
20g.18526371A>CCA408360017SEC23Bc.835-2A>C (n.835-2A>C)
c.781-2A>C (n.781-2A>C)
20g.18526371A>GCA9778152SEC23Bc.835-2A>G (n.835-2A>G)
c.781-2A>G (n.781-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526371A>TCA408360018SEC23Bc.835-2A>T (n.835-2A>T)
c.781-2A>T (n.781-2A>T)
20g.18526372G>ACA408360019SEC23Bc.835-1G>A (n.835-1G>A)
c.781-1G>A (n.781-1G>A)
20g.18526372G>CCA408360021SEC23Bc.835-1G>C (n.835-1G>C)
c.781-1G>C (n.781-1G>C)
20g.18526372G>TCA408360020SEC23Bc.835-1G>T (n.835-1G>T)
c.781-1G>T (n.781-1G>T)
20g.18526373G>ACA408360022SEC23Bc.835G>A (p.Gly279Ser)
c.781G>A (p.Gly261Ser)
20g.18526373G>CCA408360023SEC23Bc.835G>C (p.Gly279Arg)
c.781G>C (p.Gly261Arg)
20g.18526373G>TCA408360024SEC23Bc.835G>T (p.Gly279Cys)
c.781G>T (p.Gly261Cys)
20g.18526374G>ACA408360025SEC23Bc.836G>A (p.Gly279Asp)
c.782G>A (p.Gly261Asp)
20g.18526374G>CCA408360026SEC23Bc.836G>C (p.Gly279Ala)
c.782G>C (p.Gly261Ala)
20g.18526374G=CA2353557115SEC23Bc.836G= (p.Gly279=)
c.782G= (p.Gly261=)
20g.18526374G>TCA408360027SEC23Bc.836G>T (p.Gly279Val)
c.782G>T (p.Gly261Val)
 dbSNP gnomAD v4
20g.18526375C>ACA509826635SEC23Bc.837C>A (p.Gly279=)
c.783C>A (p.Gly261=)
 gnomAD v4
20g.18526375C>GCA509826636SEC23Bc.837C>G (p.Gly279=)
c.783C>G (p.Gly261=)
20g.18526375C>TCA509826637SEC23Bc.837C>T (p.Gly279=)
c.783C>T (p.Gly261=)
20g.18526376A>CCA408360030SEC23Bc.838A>C (p.Thr280Pro)
c.784A>C (p.Thr262Pro)
20g.18526376A>GCA408360029SEC23Bc.838A>G (p.Thr280Ala)
c.784A>G (p.Thr262Ala)
20g.18526376A>TCA408360028SEC23Bc.838A>T (p.Thr280Ser)
c.784A>T (p.Thr262Ser)
20g.18526377C>ACA408360031SEC23Bc.839C>A (p.Thr280Asn)
c.785C>A (p.Thr262Asn)
20g.18526377C=CA2353557116SEC23Bc.839C= (p.Thr280=)
c.785C= (p.Thr262=)
20g.18526377C>GCA9778153SEC23Bc.839C>G (p.Thr280Ser)
c.785C>G (p.Thr262Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526377C>TCA408360032SEC23Bc.839C>T (p.Thr280Ile)
c.785C>T (p.Thr262Ile)
20g.18526378T>ACA509826640SEC23Bc.840T>A (p.Thr280=)
c.786T>A (p.Thr262=)
20g.18526378T>CCA509826641SEC23Bc.840T>C (p.Thr280=)
c.786T>C (p.Thr262=)
20g.18526378T>GCA509826642SEC23Bc.840T>G (p.Thr280=)
c.786T>G (p.Thr262=)
20g.18526379T>ACA408360033SEC23Bc.841T>A (p.Phe281Ile)
c.787T>A (p.Phe263Ile)
20g.18526379T>CCA408360034SEC23Bc.841T>C (p.Phe281Leu)
c.787T>C (p.Phe263Leu)
 gnomAD v4
20g.18526379T>GCA408360035SEC23Bc.841T>G (p.Phe281Val)
c.787T>G (p.Phe263Val)
20g.18526380T>ACA408360036SEC23Bc.842T>A (p.Phe281Tyr)
c.788T>A (p.Phe263Tyr)
20g.18526380T>CCA408360038SEC23Bc.842T>C (p.Phe281Ser)
c.788T>C (p.Phe263Ser)
 gnomAD v4
20g.18526380T>GCA408360037SEC23Bc.842T>G (p.Phe281Cys)
c.788T>G (p.Phe263Cys)
20g.18526381T>ACA408360039SEC23Bc.843T>A (p.Phe281Leu)
c.789T>A (p.Phe263Leu)
20g.18526381T>CCA9778154SEC23Bc.843T>C (p.Phe281=)
c.789T>C (p.Phe263=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526381T>GCA408360040SEC23Bc.843T>G (p.Phe281Leu)
c.789T>G (p.Phe263Leu)
20g.18526381T=CA2353557117SEC23Bc.843T= (p.Phe281=)
c.789T= (p.Phe263=)
20g.18526381_18526382insTGGCA2529017012SEC23Bc.843_844insTGG (p.Phe281_Pro282insTrp)
c.789_790insTGG (p.Phe263_Pro264insTrp)
20g.18526382C>ACA408360041SEC23Bc.844C>A (p.Pro282Thr)
c.790C>A (p.Pro264Thr)
 dbSNP
20g.18526382C=CA2353557118SEC23Bc.844C= (p.Pro282=)
c.790C= (p.Pro264=)
20g.18526382C>GCA408360042SEC23Bc.844C>G (p.Pro282Ala)
c.790C>G (p.Pro264Ala)
20g.18526382C>TCA312396249SEC23Bc.844C>T (p.Pro282Ser)
c.790C>T (p.Pro264Ser)
 dbSNP
20g.18526382_18526383insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGGCA2503162930SEC23Bc.844_845insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG (p.Pro282GlnfsTer38)
c.790_791insAAGTGTTCATAAACAACGAAACTATAACAGTTGCAACACGTCTGACCTGCTATTTGGTTCTAAAAAGAGGTCTATTTTTTTACATTCTCAATGACTTTTTTGACGTTTTATGAAAGAAAATAGG (p.Pro264GlnfsTer38)
20g.18526383C>ACA408360043SEC23Bc.845C>A (p.Pro282Gln)
c.791C>A (p.Pro264Gln)
20g.18526383C>GCA408360044SEC23Bc.845C>G (p.Pro282Arg)
c.791C>G (p.Pro264Arg)
20g.18526383C>TCA408360045SEC23Bc.845C>T (p.Pro282Leu)
c.791C>T (p.Pro264Leu)
20g.18526384A>CCA509826647SEC23Bc.846A>C (p.Pro282=)
c.792A>C (p.Pro264=)
 gnomAD v4
20g.18526384A>GCA509826649SEC23Bc.846A>G (p.Pro282=)
c.792A>G (p.Pro264=)
 gnomAD v4
20g.18526384A>TCA509826648SEC23Bc.846A>T (p.Pro282=)
c.792A>T (p.Pro264=)
20g.18526385A>CCA408360046SEC23Bc.847A>C (p.Asn283His)
c.793A>C (p.Asn265His)
20g.18526385A>GCA408360047SEC23Bc.847A>G (p.Asn283Asp)
c.793A>G (p.Asn265Asp)
20g.18526385A>TCA408360048SEC23Bc.847A>T (p.Asn283Tyr)
c.793A>T (p.Asn265Tyr)
20g.18526386A>CCA408360049SEC23Bc.848A>C (p.Asn283Thr)
c.794A>C (p.Asn265Thr)
20g.18526386A>GCA408360051SEC23Bc.848A>G (p.Asn283Ser)
c.794A>G (p.Asn265Ser)
 gnomAD v4
20g.18526386A>TCA408360050SEC23Bc.848A>T (p.Asn283Ile)
c.794A>T (p.Asn265Ile)
20g.18526387C>ACA408360052SEC23Bc.849C>A (p.Asn283Lys)
c.795C>A (p.Asn265Lys)
20g.18526387C=CA2353557119SEC23Bc.849C= (p.Asn283=)
c.795C= (p.Asn265=)
20g.18526387C>GCA9778156SEC23Bc.849C>G (p.Asn283Lys)
c.795C>G (p.Asn265Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526387C>TCA9778155SEC23Bc.849C>T (p.Asn283=)
c.795C>T (p.Asn265=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526388A=CA2353557120SEC23Bc.850A= (p.Thr284=)
c.796A= (p.Thr266=)
20g.18526388A>CCA408360053SEC23Bc.850A>C (p.Thr284Pro)
c.796A>C (p.Thr266Pro)
20g.18526388A>GCA9778157SEC23Bc.850A>G (p.Thr284Ala)
c.796A>G (p.Thr266Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18526388A>TCA408360054SEC23Bc.850A>T (p.Thr284Ser)
c.796A>T (p.Thr266Ser)
20g.18526389C>ACA408360055SEC23Bc.851C>A (p.Thr284Lys)
c.797C>A (p.Thr266Lys)
 dbSNP
20g.18526389C=CA2353557121SEC23Bc.851C= (p.Thr284=)
c.797C= (p.Thr266=)
20g.18526389C>GCA408360056SEC23Bc.851C>G (p.Thr284Arg)
c.797C>G (p.Thr266Arg)
20g.18526389C>TCA9778158SEC23Bc.851C>T (p.Thr284Ile)
c.797C>T (p.Thr266Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526390A=CA2353557122SEC23Bc.852A= (p.Thr284=)
c.798A= (p.Thr266=)
20g.18526390A>CCA509826654SEC23Bc.852A>C (p.Thr284=)
c.798A>C (p.Thr266=)
20g.18526390A>GCA312396261SEC23Bc.852A>G (p.Thr284=)
c.798A>G (p.Thr266=)
 dbSNP gnomAD v4
20g.18526390A>TCA509826656SEC23Bc.852A>T (p.Thr284=)
c.798A>T (p.Thr266=)
20g.18526391G>ACA9778159SEC23Bc.853G>A (p.Gly285Arg)
c.799G>A (p.Gly267Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18526391G>CCA408360057SEC23Bc.853G>C (p.Gly285Arg)
c.799G>C (p.Gly267Arg)
20g.18526391G=CA2353557123SEC23Bc.853G= (p.Gly285=)
c.799G= (p.Gly267=)
20g.18526391G>TCA408360058SEC23Bc.853G>T (p.Gly285Ter)
c.799G>T (p.Gly267Ter)
 gnomAD v4
20g.18526392G>ACA408360059SEC23Bc.854G>A (p.Gly285Glu)
c.800G>A (p.Gly267Glu)
20g.18526392G>CCA408360061SEC23Bc.854G>C (p.Gly285Ala)
c.800G>C (p.Gly267Ala)
20g.18526392G>TCA408360060SEC23Bc.854G>T (p.Gly285Val)
c.800G>T (p.Gly267Val)
20g.18526393A>CCA509826657SEC23Bc.855A>C (p.Gly285=)
c.801A>C (p.Gly267=)
20g.18526393A>GCA509826658SEC23Bc.855A>G (p.Gly285=)
c.801A>G (p.Gly267=)
20g.18526393A>TCA509826659SEC23Bc.855A>T (p.Gly285=)
c.801A>T (p.Gly267=)
20g.18526394G>ACA408360062SEC23Bc.856G>A (p.Ala286Thr)
c.802G>A (p.Ala268Thr)
20g.18526394G>CCA408360063SEC23Bc.856G>C (p.Ala286Pro)
c.802G>C (p.Ala268Pro)
20g.18526394G>TCA408360064SEC23Bc.856G>T (p.Ala286Ser)
c.802G>T (p.Ala268Ser)
20g.18526394_18526395insATGCA2652042506SEC23Bc.856_857insATG (p.Gly285_Ala286insAsp)
c.802_803insATG (p.Gly267_Ala268insAsp)
 gnomAD v4
20g.18526395C>ACA408360065SEC23Bc.857C>A (p.Ala286Asp)
c.803C>A (p.Ala268Asp)
20g.18526395C>GCA408360066SEC23Bc.857C>G (p.Ala286Gly)
c.803C>G (p.Ala268Gly)
 gnomAD v4
20g.18526395C>TCA408360067SEC23Bc.857C>T (p.Ala286Val)
c.803C>T (p.Ala268Val)
20g.18526395_18526396insTTGCTAATCGAACA2652042508SEC23Bc.857_858insTTGCTAATCGAA (p.Ala287CysfsTer2)
c.803_804insTTGCTAATCGAA (p.Ala269CysfsTer2)
 gnomAD v4
20g.18526396C>ACA509826663SEC23Bc.858C>A (p.Ala286=)
c.804C>A (p.Ala268=)
20g.18526396C>GCA509826665SEC23Bc.858C>G (p.Ala286=)
c.804C>G (p.Ala268=)
20g.18526396C>TCA509826664SEC23Bc.858C>T (p.Ala286=)
c.804C>T (p.Ala268=)
 gnomAD v4
20g.18526397A>CCA509826666SEC23Bc.859A>C (p.Arg287=)
c.805A>C (p.Arg269=)
20g.18526397A>GCA408360068SEC23Bc.859A>G (p.Arg287Gly)
c.805A>G (p.Arg269Gly)
 gnomAD v4
20g.18526397A>TCA408360069SEC23Bc.859A>T (p.Arg287Trp)
c.805A>T (p.Arg269Trp)
20g.18526398G>ACA408360070SEC23Bc.860G>A (p.Arg287Lys)
c.806G>A (p.Arg269Lys)
20g.18526398G>CCA408360071SEC23Bc.860G>C (p.Arg287Thr)
c.806G>C (p.Arg269Thr)
20g.18526398G>TCA408360072SEC23Bc.860G>T (p.Arg287Met)
c.806G>T (p.Arg269Met)
20g.18526398_18526399insCTGCAAATCA2652042512SEC23Bc.860_861insCTGCAAAT (p.Arg287SerfsTer4)
c.806_807insCTGCAAAT (p.Arg269SerfsTer4)
 gnomAD v4
20g.18526399G>ACA509826667SEC23Bc.861G>A (p.Arg287=)
c.807G>A (p.Arg269=)
20g.18526399G>CCA408360073SEC23Bc.861G>C (p.Arg287Ser)
c.807G>C (p.Arg269Ser)
20g.18526399G>TCA408360074SEC23Bc.861G>T (p.Arg287Ser)
c.807G>T (p.Arg269Ser)
20g.18526400A>CCA408360075SEC23Bc.862A>C (p.Ile288Leu)
c.808A>C (p.Ile270Leu)
20g.18526400A>GCA408360076SEC23Bc.862A>G (p.Ile288Val)
c.808A>G (p.Ile270Val)
 gnomAD v4
20g.18526400A>TCA408360077SEC23Bc.862A>T (p.Ile288Phe)
c.808A>T (p.Ile270Phe)
20g.18526401T>ACA408360078SEC23Bc.863T>A (p.Ile288Asn)
c.809T>A (p.Ile270Asn)
20g.18526401T>CCA408360079SEC23Bc.863T>C (p.Ile288Thr)
c.809T>C (p.Ile270Thr)
20g.18526401T>GCA408360080SEC23Bc.863T>G (p.Ile288Ser)
c.809T>G (p.Ile270Ser)
20g.18526402C>ACA509826668SEC23Bc.864C>A (p.Ile288=)
c.810C>A (p.Ile270=)
20g.18526402C>GCA408360081SEC23Bc.864C>G (p.Ile288Met)
c.810C>G (p.Ile270Met)
20g.18526402C>TCA509826669SEC23Bc.864C>T (p.Ile288=)
c.810C>T (p.Ile270=)
20g.18526403A=CA2353557124SEC23Bc.865A= (p.Met289=)
c.811A= (p.Met271=)
20g.18526403A>CCA408360082SEC23Bc.865A>C (p.Met289Leu)
c.811A>C (p.Met271Leu)
 dbSNP
20g.18526403A>GCA408360083SEC23Bc.865A>G (p.Met289Val)
c.811A>G (p.Met271Val)
 dbSNP gnomAD v3 gnomAD v4
20g.18526403A>TCA408360084SEC23Bc.865A>T (p.Met289Leu)
c.811A>T (p.Met271Leu)
 gnomAD v4
20g.18526403_18526404insCCA2652042516SEC23Bc.865_866insC (p.Met289ThrfsTer19)
c.811_812insC (p.Met271ThrfsTer19)
 gnomAD v4
20g.18526404T>ACA408360085SEC23Bc.866T>A (p.Met289Lys)
c.812T>A (p.Met271Lys)
 gnomAD v4
20g.18526404T>CCA408360086SEC23Bc.866T>C (p.Met289Thr)
c.812T>C (p.Met271Thr)
20g.18526404T>GCA408360087SEC23Bc.866T>G (p.Met289Arg)
c.812T>G (p.Met271Arg)
20g.18526405G>ACA408360090SEC23Bc.867G>A (p.Met289Ile)
c.813G>A (p.Met271Ile)
20g.18526405G>CCA408360089SEC23Bc.867G>C (p.Met289Ile)
c.813G>C (p.Met271Ile)
20g.18526405G>TCA408360088SEC23Bc.867G>T (p.Met289Ile)
c.813G>T (p.Met271Ile)
20g.18526406C>ACA408360091SEC23Bc.868C>A (p.Leu290Met)
c.814C>A (p.Leu272Met)
20g.18526406C>GCA408360092SEC23Bc.868C>G (p.Leu290Val)
c.814C>G (p.Leu272Val)
20g.18526406C>TCA509826670SEC23Bc.868C>T (p.Leu290=)
c.814C>T (p.Leu272=)
20g.18526406_18526407insATCA2652042517SEC23Bc.868_869insAT (p.Leu290HisfsTer20)
c.814_815insAT (p.Leu272HisfsTer20)
 gnomAD v4
20g.18526407T>ACA408360093SEC23Bc.869T>A (p.Leu290Gln)
c.815T>A (p.Leu272Gln)
20g.18526407T>CCA408360094SEC23Bc.869T>C (p.Leu290Pro)
c.815T>C (p.Leu272Pro)
20g.18526407T>GCA408360095SEC23Bc.869T>G (p.Leu290Arg)
c.815T>G (p.Leu272Arg)
20g.18526408G>ACA509826671SEC23Bc.870G>A (p.Leu290=)
c.816G>A (p.Leu272=)
20g.18526408G>CCA509826672SEC23Bc.870G>C (p.Leu290=)
c.816G>C (p.Leu272=)
 dbSNP
20g.18526408G>TCA509826673SEC23Bc.870G>T (p.Leu290=)
c.816G>T (p.Leu272=)
20g.18526408_18526409insATACA2652042519SEC23Bc.870_871insATA (p.Leu290_Phe291insIle)
c.816_817insATA (p.Leu272_Phe273insIle)
 gnomAD v4
20g.18526409T>ACA408360096SEC23Bc.871T>A (p.Phe291Ile)
c.817T>A (p.Phe273Ile)
20g.18526409T>CCA408360097SEC23Bc.871T>C (p.Phe291Leu)
c.817T>C (p.Phe273Leu)
20g.18526409T>GCA408360098SEC23Bc.871T>G (p.Phe291Val)
c.817T>G (p.Phe273Val)
20g.18526411delCA2740097033SEC23Bc.873del (p.Phe291LeufsTer18)
c.819del (p.Phe273LeufsTer18)
 ClinVar

Number of alleles fetched