Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41474402C>ACA412991818NYXc.934C>A (p.Leu312Ile)
c.949C>A (p.Leu317Ile)
Xg.41474402C>GCA412991820NYXc.934C>G (p.Leu312Val)
c.949C>G (p.Leu317Val)
Xg.41474402C>TCA412991822NYXc.934C>T (p.Leu312Phe)
c.949C>T (p.Leu317Phe)
 gnomAD v4 COSMIC
Xg.41474403T>ACA412991825NYXc.935T>A (p.Leu312His)
c.950T>A (p.Leu317His)
Xg.41474403T>CCA412991829NYXc.935T>C (p.Leu312Pro)
c.950T>C (p.Leu317Pro)
Xg.41474403T>GCA412991827NYXc.935T>G (p.Leu312Arg)
c.950T>G (p.Leu317Arg)
Xg.41474404C>ACA516366052NYXc.936C>A (p.Leu312=)
c.951C>A (p.Leu317=)
Xg.41474404C=CA2425928061NYXc.936C= (p.Leu312=)
c.951C= (p.Leu317=)
Xg.41474404C>GCA516366053NYXc.936C>G (p.Leu312=)
c.951C>G (p.Leu317=)
Xg.41474404C>TCA516366054NYXc.936C>T (p.Leu312=)
c.951C>T (p.Leu317=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474405_41474406delCA2820585806NYXc.937_938del (p.Ala313LeufsTer?)
c.952_953del (p.Ala318LeufsTer?)
Xg.41474405G>ACA412991832NYXc.937G>A (p.Ala313Thr)
c.952G>A (p.Ala318Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41474405G>CCA10389885NYXc.937G>C (p.Ala313Pro)
c.952G>C (p.Ala318Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474405G=CA2425928062NYXc.937G= (p.Ala313=)
c.952G= (p.Ala318=)
Xg.41474405G>TCA329217075NYXc.937G>T (p.Ala313Ser)
c.952G>T (p.Ala318Ser)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474406C>ACA412991838NYXc.938C>A (p.Ala313Asp)
c.953C>A (p.Ala318Asp)
Xg.41474406C>GCA412991840NYXc.938C>G (p.Ala313Gly)
c.953C>G (p.Ala318Gly)
Xg.41474406C>TCA412991842NYXc.938C>T (p.Ala313Val)
c.953C>T (p.Ala318Val)
Xg.41474412_41474439dupCA2580101747NYXc.944_971dup (p.Phe327ProfsTer?)
c.959_986dup (p.Phe332ProfsTer?)
 ClinVar
Xg.41474407C>ACA516366059NYXc.939C>A (p.Ala313=)
c.954C>A (p.Ala318=)
Xg.41474407C>GCA516366060NYXc.939C>G (p.Ala313=)
c.954C>G (p.Ala318=)
Xg.41474407C>TCA516366061NYXc.939C>T (p.Ala313=)
c.954C>T (p.Ala318=)
 ClinVar dbSNP gnomAD v4
Xg.41474408T>ACA412991846NYXc.940T>A (p.Trp314Arg)
c.955T>A (p.Trp319Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474408T>CCA412991848NYXc.940T>C (p.Trp314Arg)
c.955T>C (p.Trp319Arg)
Xg.41474408T>GCA412991850NYXc.940T>G (p.Trp314Gly)
c.955T>G (p.Trp319Gly)
Xg.41474408T=CA2425928063NYXc.940T= (p.Trp314=)
c.955T= (p.Trp319=)
Xg.41474409G>ACA412991852NYXc.941G>A (p.Trp314Ter)
c.956G>A (p.Trp319Ter)
Xg.41474409G>CCA412991854NYXc.941G>C (p.Trp314Ser)
c.956G>C (p.Trp319Ser)
Xg.41474409G>TCA412991856NYXc.941G>T (p.Trp314Leu)
c.956G>T (p.Trp319Leu)
 gnomAD v4
Xg.41474411delCA2693490956NYXc.943del (p.Val315SerfsTer28)
c.958del (p.Val320SerfsTer28)
 gnomAD v4
Xg.41474410G>ACA412991864NYXc.942G>A (p.Trp314Ter)
c.957G>A (p.Trp319Ter)
Xg.41474410G>CCA412991860NYXc.942G>C (p.Trp314Cys)
c.957G>C (p.Trp319Cys)
 ClinVar gnomAD v4
Xg.41474410G>TCA412991862NYXc.942G>T (p.Trp314Cys)
c.957G>T (p.Trp319Cys)
 gnomAD v4
Xg.41474411G>ACA10389886NYXc.943G>A (p.Val315Ile)
c.958G>A (p.Val320Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474411G>CCA412991870NYXc.943G>C (p.Val315Leu)
c.958G>C (p.Val320Leu)
Xg.41474411G=CA2425928064NYXc.943G= (p.Val315=)
c.958G= (p.Val320=)
Xg.41474411G>TCA412991872NYXc.943G>T (p.Val315Phe)
c.958G>T (p.Val320Phe)
 gnomAD v4
Xg.41474412T>ACA412991875NYXc.944T>A (p.Val315Asp)
c.959T>A (p.Val320Asp)
Xg.41474412T>CCA412991877NYXc.944T>C (p.Val315Ala)
c.959T>C (p.Val320Ala)
 gnomAD v4
Xg.41474412T>GCA412991879NYXc.944T>G (p.Val315Gly)
c.959T>G (p.Val320Gly)
Xg.41474413C>ACA516366070NYXc.945C>A (p.Val315=)
c.960C>A (p.Val320=)
 gnomAD v4
Xg.41474413C=CA2425928065NYXc.945C= (p.Val315=)
c.960C= (p.Val320=)
Xg.41474413C>GCA516366069NYXc.945C>G (p.Val315=)
c.960C>G (p.Val320=)
Xg.41474413C>TCA516366068NYXc.945C>T (p.Val315=)
c.960C>T (p.Val320=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474418_41474445delCA2573158857NYXc.950_977del (p.Phe317SerfsTer17)
c.965_992del (p.Phe322SerfsTer17)
 ClinVar dbSNP
Xg.41474414G>ACA412991885NYXc.946G>A (p.Ala316Thr)
c.961G>A (p.Ala321Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.41474414G>CCA412991883NYXc.946G>C (p.Ala316Pro)
c.961G>C (p.Ala321Pro)
Xg.41474414G=CA2425928066NYXc.946G= (p.Ala316=)
c.961G= (p.Ala321=)
Xg.41474414G>TCA10389887NYXc.946G>T (p.Ala316Ser)
c.961G>T (p.Ala321Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.41474415C>ACA412991888NYXc.947C>A (p.Ala316Asp)
c.962C>A (p.Ala321Asp)
Xg.41474415C>GCA412991890NYXc.947C>G (p.Ala316Gly)
c.962C>G (p.Ala321Gly)
Xg.41474415C>TCA412991892NYXc.947C>T (p.Ala316Val)
c.962C>T (p.Ala321Val)
Xg.41474416C>ACA516366073NYXc.948C>A (p.Ala316=)
c.963C>A (p.Ala321=)
Xg.41474416C>GCA516366075NYXc.948C>G (p.Ala316=)
c.963C>G (p.Ala321=)
Xg.41474416C>TCA516366074NYXc.948C>T (p.Ala316=)
c.963C>T (p.Ala321=)
Xg.41474417T>ACA412991894NYXc.949T>A (p.Phe317Ile)
c.964T>A (p.Phe322Ile)
Xg.41474417T>CCA10389888NYXc.949T>C (p.Phe317Leu)
c.964T>C (p.Phe322Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474417T>GCA412991899NYXc.949T>G (p.Phe317Val)
c.964T>G (p.Phe322Val)
Xg.41474417T=CA2425928067NYXc.949T= (p.Phe317=)
c.964T= (p.Phe322=)
Xg.41474418T>ACA412991902NYXc.950T>A (p.Phe317Tyr)
c.965T>A (p.Phe322Tyr)
Xg.41474418T>CCA412991905NYXc.950T>C (p.Phe317Ser)
c.965T>C (p.Phe322Ser)
Xg.41474418T>GCA412991904NYXc.950T>G (p.Phe317Cys)
c.965T>G (p.Phe322Cys)
Xg.41474419C>ACA412991908NYXc.951C>A (p.Phe317Leu)
c.966C>A (p.Phe322Leu)
Xg.41474419C>GCA412991909NYXc.951C>G (p.Phe317Leu)
c.966C>G (p.Phe322Leu)
 gnomAD v4
Xg.41474419C>TCA516366082NYXc.951C>T (p.Phe317=)
c.966C>T (p.Phe322=)
Xg.41474420C>ACA412991912NYXc.952C>A (p.Gln318Lys)
c.967C>A (p.Gln323Lys)
Xg.41474420C>GCA412991914NYXc.952C>G (p.Gln318Glu)
c.967C>G (p.Gln323Glu)
Xg.41474420C>TCA412991916NYXc.952C>T (p.Gln318Ter)
c.967C>T (p.Gln323Ter)
 gnomAD v4
Xg.41474421A>CCA412991920NYXc.953A>C (p.Gln318Pro)
c.968A>C (p.Gln323Pro)
Xg.41474421A>GCA412991921NYXc.953A>G (p.Gln318Arg)
c.968A>G (p.Gln323Arg)
 gnomAD v4
Xg.41474421A>TCA412991924NYXc.953A>T (p.Gln318Leu)
c.968A>T (p.Gln323Leu)
 ClinVar gnomAD v4
Xg.41474422G>ACA10389889NYXc.954G>A (p.Gln318=)
c.969G>A (p.Gln323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474422G>CCA412991927NYXc.954G>C (p.Gln318His)
c.969G>C (p.Gln323His)
Xg.41474422G=CA2425928068NYXc.954G= (p.Gln318=)
c.969G= (p.Gln323=)
Xg.41474422G>TCA412991930NYXc.954G>T (p.Gln318His)
c.969G>T (p.Gln323His)
 gnomAD v4 COSMIC
Xg.41474423C>ACA412991933NYXc.955C>A (p.Pro319Thr)
c.970C>A (p.Pro324Thr)
Xg.41474423C=CA2425928069NYXc.955C= (p.Pro319=)
c.970C= (p.Pro324=)
Xg.41474423C>GCA412991936NYXc.955C>G (p.Pro319Ala)
c.970C>G (p.Pro324Ala)
Xg.41474423C>TCA412991935NYXc.955C>T (p.Pro319Ser)
c.970C>T (p.Pro324Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474424C>ACA412991938NYXc.956C>A (p.Pro319His)
c.971C>A (p.Pro324His)
 gnomAD v4
Xg.41474424C>GCA412991942NYXc.956C>G (p.Pro319Arg)
c.971C>G (p.Pro324Arg)
Xg.41474424C>TCA412991940NYXc.956C>T (p.Pro319Leu)
c.971C>T (p.Pro324Leu)
Xg.41474425C>ACA516366090NYXc.957C>A (p.Pro319=)
c.972C>A (p.Pro324=)
Xg.41474425C=CA2425928070NYXc.957C= (p.Pro319=)
c.972C= (p.Pro324=)
Xg.41474425C>GCA516366092NYXc.957C>G (p.Pro319=)
c.972C>G (p.Pro324=)
Xg.41474425C>TCA516366094NYXc.957C>T (p.Pro319=)
c.972C>T (p.Pro324=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41474426G>ACA412991945NYXc.958G>A (p.Gly320Ser)
c.973G>A (p.Gly325Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474426G>CCA412991947NYXc.958G>C (p.Gly320Arg)
c.973G>C (p.Gly325Arg)
 COSMIC
Xg.41474426G=CA2425928071NYXc.958G= (p.Gly320=)
c.973G= (p.Gly325=)
Xg.41474426G>TCA10389890NYXc.958G>T (p.Gly320Cys)
c.973G>T (p.Gly325Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.41474427G>ACA412991951NYXc.959G>A (p.Gly320Asp)
c.974G>A (p.Gly325Asp)
Xg.41474427G>CCA412991953NYXc.959G>C (p.Gly320Ala)
c.974G>C (p.Gly325Ala)
Xg.41474427G>TCA412991956NYXc.959G>T (p.Gly320Val)
c.974G>T (p.Gly325Val)
 gnomAD v4
Xg.41474428C>ACA516366099NYXc.960C>A (p.Gly320=)
c.975C>A (p.Gly325=)
Xg.41474428C>GCA516366101NYXc.960C>G (p.Gly320=)
c.975C>G (p.Gly325=)
Xg.41474428C>TCA516366102NYXc.960C>T (p.Gly320=)
c.975C>T (p.Gly325=)
Xg.41474429T>ACA412991959NYXc.961T>A (p.Phe321Ile)
c.976T>A (p.Phe326Ile)
Xg.41474429T>CCA10389891NYXc.961T>C (p.Phe321Leu)
c.976T>C (p.Phe326Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474429T>GCA412991962NYXc.961T>G (p.Phe321Val)
c.976T>G (p.Phe326Val)
Xg.41474429T=CA2425928072NYXc.961T= (p.Phe321=)
c.976T= (p.Phe326=)
Xg.41474430T>ACA412991965NYXc.962T>A (p.Phe321Tyr)
c.977T>A (p.Phe326Tyr)
 gnomAD v4
Xg.41474430T>CCA412991967NYXc.962T>C (p.Phe321Ser)
c.977T>C (p.Phe326Ser)
Xg.41474430T>GCA412991970NYXc.962T>G (p.Phe321Cys)
c.977T>G (p.Phe326Cys)
Xg.41474431C>ACA412991974NYXc.963C>A (p.Phe321Leu)
c.978C>A (p.Phe326Leu)
Xg.41474431C>GCA412991972NYXc.963C>G (p.Phe321Leu)
c.978C>G (p.Phe326Leu)
Xg.41474431C>TCA516366108NYXc.963C>T (p.Phe321=)
c.978C>T (p.Phe326=)
Xg.41474432T>ACA412991977NYXc.964T>A (p.Phe322Ile)
c.979T>A (p.Phe327Ile)
Xg.41474432T>CCA412991979NYXc.964T>C (p.Phe322Leu)
c.979T>C (p.Phe327Leu)
 gnomAD v4
Xg.41474432T>GCA412991981NYXc.964T>G (p.Phe322Val)
c.979T>G (p.Phe327Val)
Xg.41474433T>ACA412991984NYXc.965T>A (p.Phe322Tyr)
c.980T>A (p.Phe327Tyr)
Xg.41474433T>CCA412991986NYXc.965T>C (p.Phe322Ser)
c.980T>C (p.Phe327Ser)
Xg.41474433T>GCA412991988NYXc.965T>G (p.Phe322Cys)
c.980T>G (p.Phe327Cys)
Xg.41474434C>ACA412991991NYXc.966C>A (p.Phe322Leu)
c.981C>A (p.Phe327Leu)
 gnomAD v4
Xg.41474434C=CA2425928073NYXc.966C= (p.Phe322=)
c.981C= (p.Phe327=)
Xg.41474434C>GCA412991993NYXc.966C>G (p.Phe322Leu)
c.981C>G (p.Phe327Leu)
Xg.41474434C>TCA516366113NYXc.966C>T (p.Phe322=)
c.981C>T (p.Phe327=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474435C>ACA412991996NYXc.967C>A (p.Leu323Met)
c.982C>A (p.Leu328Met)
Xg.41474435C>GCA412992000NYXc.967C>G (p.Leu323Val)
c.982C>G (p.Leu328Val)
Xg.41474435C>TCA516366116NYXc.967C>T (p.Leu323=)
c.982C>T (p.Leu328=)
Xg.41474436T>ACA412992003NYXc.968T>A (p.Leu323Gln)
c.983T>A (p.Leu328Gln)
Xg.41474436T>CCA412992005NYXc.968T>C (p.Leu323Pro)
c.983T>C (p.Leu328Pro)
Xg.41474436T>GCA412992007NYXc.968T>G (p.Leu323Arg)
c.983T>G (p.Leu328Arg)
Xg.41474437G>ACA10389892NYXc.969G>A (p.Leu323=)
c.984G>A (p.Leu328=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474437G>CCA516366119NYXc.969G>C (p.Leu323=)
c.984G>C (p.Leu328=)
Xg.41474437G=CA2425928074NYXc.969G= (p.Leu323=)
c.984G= (p.Leu328=)
Xg.41474437G>TCA516366121NYXc.969G>T (p.Leu323=)
c.984G>T (p.Leu328=)
 gnomAD v4
Xg.41474439delCA2693491016NYXc.971del (p.Gly324AlafsTer19)
c.986del (p.Gly329AlafsTer19)
 gnomAD v4
Xg.41474438G>ACA412992016NYXc.970G>A (p.Gly324Ser)
c.985G>A (p.Gly329Ser)
Xg.41474438G>CCA412992012NYXc.970G>C (p.Gly324Arg)
c.985G>C (p.Gly329Arg)
Xg.41474438G>TCA412992014NYXc.970G>T (p.Gly324Cys)
c.985G>T (p.Gly329Cys)
 gnomAD v4
Xg.41474438_41474452dupCA2693491022NYXc.970_984dup (p.Leu328_Phe329insGlyArgLeuPheLeu)
c.985_999dup (p.Leu333_Phe334insGlyArgLeuPheLeu)
 gnomAD v4
Xg.41474439G>ACA412992019NYXc.971G>A (p.Gly324Asp)
c.986G>A (p.Gly329Asp)
 gnomAD v4
Xg.41474439G>CCA412992021NYXc.971G>C (p.Gly324Ala)
c.986G>C (p.Gly329Ala)
Xg.41474439G>TCA412992023NYXc.971G>T (p.Gly324Val)
c.986G>T (p.Gly329Val)
 gnomAD v4
Xg.41474440C>ACA516366125NYXc.972C>A (p.Gly324=)
c.987C>A (p.Gly329=)
Xg.41474440C=CA2425928075NYXc.972C= (p.Gly324=)
c.987C= (p.Gly329=)
Xg.41474440C>GCA516366126NYXc.972C>G (p.Gly324=)
c.987C>G (p.Gly329=)
Xg.41474440C>TCA516366127NYXc.972C>T (p.Gly324=)
c.987C>T (p.Gly329=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474441delCA2559533997NYXc.973del (p.Arg325AlafsTer18)
c.988del (p.Arg330AlafsTer18)
Xg.41474441C>ACA412992027NYXc.973C>A (p.Arg325Ser)
c.988C>A (p.Arg330Ser)
Xg.41474441C>GCA412992026NYXc.973C>G (p.Arg325Gly)
c.988C>G (p.Arg330Gly)
Xg.41474441C>TCA412992025NYXc.973C>T (p.Arg325Cys)
c.988C>T (p.Arg330Cys)
 gnomAD v4
Xg.41474442G>ACA412992028NYXc.974G>A (p.Arg325His)
c.989G>A (p.Arg330His)
 gnomAD v4 COSMIC
Xg.41474442G>CCA412992029NYXc.974G>C (p.Arg325Pro)
c.989G>C (p.Arg330Pro)
Xg.41474442G>TCA412992030NYXc.974G>T (p.Arg325Leu)
c.989G>T (p.Arg330Leu)
 gnomAD v4
Xg.41474442_41474448delinsGCCTCTTCA2425928076NYXc.974_980delinsGCCTCTT (p.Arg325=)
c.989_995delinsGCCTCTT (p.Arg330=)
Xg.41474443C>ACA516366130NYXc.975C>A (p.Arg325=)
c.990C>A (p.Arg330=)
Xg.41474443C=CA2425928077NYXc.975C= (p.Arg325=)
c.990C= (p.Arg330=)
Xg.41474443C>GCA516366132NYXc.975C>G (p.Arg325=)
c.990C>G (p.Arg330=)
Xg.41474443C>TCA516366134NYXc.975C>T (p.Arg325=)
c.990C>T (p.Arg330=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474451_41474456delCA645509403NYXc.983_988del (p.Leu328_Phe329del)
c.998_1003del (p.Leu333_Phe334del)
 ClinVar dbSNP
Xg.41474444C>ACA412992031NYXc.976C>A (p.Leu326Ile)
c.991C>A (p.Leu331Ile)
Xg.41474444C=CA2425928078NYXc.976C= (p.Leu326=)
c.991C= (p.Leu331=)
Xg.41474444C>GCA412992032NYXc.976C>G (p.Leu326Val)
c.991C>G (p.Leu331Val)
Xg.41474444C>TCA412992033NYXc.976C>T (p.Leu326Phe)
c.991C>T (p.Leu331Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41474445T>ACA412992034NYXc.977T>A (p.Leu326His)
c.992T>A (p.Leu331His)
Xg.41474445T>CCA412992036NYXc.977T>C (p.Leu326Pro)
c.992T>C (p.Leu331Pro)
Xg.41474445T>GCA412992035NYXc.977T>G (p.Leu326Arg)
c.992T>G (p.Leu331Arg)
Xg.41474446C>ACA516366138NYXc.978C>A (p.Leu326=)
c.993C>A (p.Leu331=)
Xg.41474446C>GCA516366139NYXc.978C>G (p.Leu326=)
c.993C>G (p.Leu331=)
 gnomAD v4
Xg.41474446C>TCA516366142NYXc.978C>T (p.Leu326=)
c.993C>T (p.Leu331=)
Xg.41474447T>ACA412992037NYXc.979T>A (p.Phe327Ile)
c.994T>A (p.Phe332Ile)
Xg.41474447T>CCA412992038NYXc.979T>C (p.Phe327Leu)
c.994T>C (p.Phe332Leu)
Xg.41474447T>GCA412992039NYXc.979T>G (p.Phe327Val)
c.994T>G (p.Phe332Val)
Xg.41474448T>ACA412992040NYXc.980T>A (p.Phe327Tyr)
c.995T>A (p.Phe332Tyr)
Xg.41474448T>CCA412992041NYXc.980T>C (p.Phe327Ser)
c.995T>C (p.Phe332Ser)
Xg.41474448T>GCA412992042NYXc.980T>G (p.Phe327Cys)
c.995T>G (p.Phe332Cys)
Xg.41474449C>ACA412992043NYXc.981C>A (p.Phe327Leu)
c.996C>A (p.Phe332Leu)
 gnomAD v4
Xg.41474449C=CA2425928079NYXc.981C= (p.Phe327=)
c.996C= (p.Phe332=)
Xg.41474449C>GCA412992044NYXc.981C>G (p.Phe327Leu)
c.996C>G (p.Phe332Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474449C>TCA516366149NYXc.981C>T (p.Phe327=)
c.996C>T (p.Phe332=)
 gnomAD v4
Xg.41474450C>ACA412992045NYXc.982C>A (p.Leu328Ile)
c.997C>A (p.Leu333Ile)
Xg.41474450C=CA2425928080NYXc.982C= (p.Leu328=)
c.997C= (p.Leu333=)
Xg.41474450C>GCA412992046NYXc.982C>G (p.Leu328Val)
c.997C>G (p.Leu333Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474450C>TCA412992047NYXc.982C>T (p.Leu328Phe)
c.997C>T (p.Leu333Phe)
 gnomAD v4
Xg.41474451T>ACA412992048NYXc.983T>A (p.Leu328His)
c.998T>A (p.Leu333His)
Xg.41474451T>CCA412992050NYXc.983T>C (p.Leu328Pro)
c.998T>C (p.Leu333Pro)
Xg.41474451T>GCA412992049NYXc.983T>G (p.Leu328Arg)
c.998T>G (p.Leu333Arg)
Xg.41474452C>ACA516366154NYXc.984C>A (p.Leu328=)
c.999C>A (p.Leu333=)
Xg.41474452C>GCA516366156NYXc.984C>G (p.Leu328=)
c.999C>G (p.Leu333=)
Xg.41474452C>TCA516366152NYXc.984C>T (p.Leu328=)
c.999C>T (p.Leu333=)
Xg.41474453T>ACA412992051NYXc.985T>A (p.Phe329Ile)
c.1000T>A (p.Phe334Ile)
Xg.41474453T>CCA412992053NYXc.985T>C (p.Phe329Leu)
c.1000T>C (p.Phe334Leu)
Xg.41474453T>GCA412992052NYXc.985T>G (p.Phe329Val)
c.1000T>G (p.Phe334Val)
Xg.41474454T>ACA412992054NYXc.986T>A (p.Phe329Tyr)
c.1001T>A (p.Phe334Tyr)
Xg.41474454T>CCA412992056NYXc.986T>C (p.Phe329Ser)
c.1001T>C (p.Phe334Ser)
Xg.41474454T>GCA412992055NYXc.986T>G (p.Phe329Cys)
c.1001T>G (p.Phe334Cys)
Xg.41474455C>ACA412992057NYXc.987C>A (p.Phe329Leu)
c.1002C>A (p.Phe334Leu)
 gnomAD v4
Xg.41474455C>GCA412992058NYXc.987C>G (p.Phe329Leu)
c.1002C>G (p.Phe334Leu)
Xg.41474455C>TCA516366161NYXc.987C>T (p.Phe329=)
c.1002C>T (p.Phe334=)
Xg.41474456C>ACA412992059NYXc.988C>A (p.Arg330Ser)
c.1003C>A (p.Arg335Ser)
Xg.41474456C=CA2425928081NYXc.988C= (p.Arg330=)
c.1003C= (p.Arg335=)
Xg.41474456C>GCA412992060NYXc.988C>G (p.Arg330Gly)
c.1003C>G (p.Arg335Gly)
Xg.41474456C>TCA10389893NYXc.988C>T (p.Arg330Cys)
c.1003C>T (p.Arg335Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474457G>ACA412992061NYXc.989G>A (p.Arg330His)
c.1004G>A (p.Arg335His)
 COSMIC
Xg.41474457G>CCA412992063NYXc.989G>C (p.Arg330Pro)
c.1004G>C (p.Arg335Pro)
Xg.41474457G>TCA412992062NYXc.989G>T (p.Arg330Leu)
c.1004G>T (p.Arg335Leu)
 ClinVar gnomAD v4
Xg.41474458C>ACA516366167NYXc.990C>A (p.Arg330=)
c.1005C>A (p.Arg335=)
Xg.41474458C>GCA516366171NYXc.990C>G (p.Arg330=)
c.1005C>G (p.Arg335=)
Xg.41474458C>TCA516366168NYXc.990C>T (p.Arg330=)
c.1005C>T (p.Arg335=)
Xg.41474459A>CCA412992064NYXc.991A>C (p.Asn331His)
c.1006A>C (p.Asn336His)
Xg.41474459A>GCA412992065NYXc.991A>G (p.Asn331Asp)
c.1006A>G (p.Asn336Asp)
Xg.41474459A>TCA412992066NYXc.991A>T (p.Asn331Tyr)
c.1006A>T (p.Asn336Tyr)
Xg.41474460A>CCA412992067NYXc.992A>C (p.Asn331Thr)
c.1007A>C (p.Asn336Thr)
Xg.41474460A>GCA412992068NYXc.992A>G (p.Asn331Ser)
c.1007A>G (p.Asn336Ser)
Xg.41474460A>TCA412992069NYXc.992A>T (p.Asn331Ile)
c.1007A>T (p.Asn336Ile)
Xg.41474461C>ACA412992070NYXc.993C>A (p.Asn331Lys)
c.1008C>A (p.Asn336Lys)
Xg.41474461C>GCA412992071NYXc.993C>G (p.Asn331Lys)
c.1008C>G (p.Asn336Lys)
Xg.41474461C>TCA516366179NYXc.993C>T (p.Asn331=)
c.1008C>T (p.Asn336=)
 gnomAD v4
Xg.41474462C>ACA412992072NYXc.994C>A (p.Pro332Thr)
c.1009C>A (p.Pro337Thr)
Xg.41474462C>GCA412992073NYXc.994C>G (p.Pro332Ala)
c.1009C>G (p.Pro337Ala)
Xg.41474462C>TCA412992074NYXc.994C>T (p.Pro332Ser)
c.1009C>T (p.Pro337Ser)
Xg.41474463C>ACA412992075NYXc.995C>A (p.Pro332Gln)
c.1010C>A (p.Pro337Gln)
Xg.41474463C>GCA412992077NYXc.995C>G (p.Pro332Arg)
c.1010C>G (p.Pro337Arg)
Xg.41474463C>TCA412992076NYXc.995C>T (p.Pro332Leu)
c.1010C>T (p.Pro337Leu)
 gnomAD v4
Xg.41474464G>ACA516366183NYXc.996G>A (p.Pro332=)
c.1011G>A (p.Pro337=)
Xg.41474464G>CCA516366184NYXc.996G>C (p.Pro332=)
c.1011G>C (p.Pro337=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474464G=CA2425928082NYXc.996G= (p.Pro332=)
c.1011G= (p.Pro337=)
Xg.41474464G>TCA516366185NYXc.996G>T (p.Pro332=)
c.1011G>T (p.Pro337=)
 gnomAD v4
Xg.41474465T>ACA412992078NYXc.997T>A (p.Trp333Arg)
c.1012T>A (p.Trp338Arg)
Xg.41474465T>CCA412992079NYXc.997T>C (p.Trp333Arg)
c.1012T>C (p.Trp338Arg)
Xg.41474465T>GCA412992080NYXc.997T>G (p.Trp333Gly)
c.1012T>G (p.Trp338Gly)
Xg.41474466G>ACA412992081NYXc.998G>A (p.Trp333Ter)
c.1013G>A (p.Trp338Ter)
Xg.41474466G>CCA412992082NYXc.998G>C (p.Trp333Ser)
c.1013G>C (p.Trp338Ser)
Xg.41474466G>TCA412992083NYXc.998G>T (p.Trp333Leu)
c.1013G>T (p.Trp338Leu)
Xg.41474467G>ACA412992084NYXc.999G>A (p.Trp333Ter)
c.1014G>A (p.Trp338Ter)
Xg.41474467G>CCA412992085NYXc.999G>C (p.Trp333Cys)
c.1014G>C (p.Trp338Cys)
Xg.41474467G>TCA412992086NYXc.999G>T (p.Trp333Cys)
c.1014G>T (p.Trp338Cys)
Xg.41474468T>ACA412992088NYXc.1000T>A (p.Cys334Ser)
c.1015T>A (p.Cys339Ser)
Xg.41474468T>CCA412992089NYXc.1000T>C (p.Cys334Arg)
c.1015T>C (p.Cys339Arg)
Xg.41474468T>GCA412992087NYXc.1000T>G (p.Cys334Gly)
c.1015T>G (p.Cys339Gly)
Xg.41474469G>ACA412992090NYXc.1001G>A (p.Cys334Tyr)
c.1016G>A (p.Cys339Tyr)
 gnomAD v4
Xg.41474469G>CCA412992091NYXc.1001G>C (p.Cys334Ser)
c.1016G>C (p.Cys339Ser)
Xg.41474469G>TCA412992092NYXc.1001G>T (p.Cys334Phe)
c.1016G>T (p.Cys339Phe)
 gnomAD v4
Xg.41474470C>ACA412992093NYXc.1002C>A (p.Cys334Ter)
c.1017C>A (p.Cys339Ter)
Xg.41474470C=CA2425928083NYXc.1002C= (p.Cys334=)
c.1017C= (p.Cys339=)
Xg.41474470C>GCA412992094NYXc.1002C>G (p.Cys334Trp)
c.1017C>G (p.Cys339Trp)
 COSMIC
Xg.41474470C>TCA516366204NYXc.1002C>T (p.Cys334=)
c.1017C>T (p.Cys339=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474471T>ACA412992097NYXc.1003T>A (p.Cys335Ser)
c.1018T>A (p.Cys340Ser)
Xg.41474471T>CCA412992095NYXc.1003T>C (p.Cys335Arg)
c.1018T>C (p.Cys340Arg)
 ClinVar
Xg.41474471T>GCA412992096NYXc.1003T>G (p.Cys335Gly)
c.1018T>G (p.Cys340Gly)
 ClinVar dbSNP
Xg.41474471T=CA2425928084NYXc.1003T= (p.Cys335=)
c.1018T= (p.Cys340=)
Xg.41474472G>ACA412992098NYXc.1004G>A (p.Cys335Tyr)
c.1019G>A (p.Cys340Tyr)
Xg.41474472G>CCA412992099NYXc.1004G>C (p.Cys335Ser)
c.1019G>C (p.Cys340Ser)
Xg.41474472G>TCA412992100NYXc.1004G>T (p.Cys335Phe)
c.1019G>T (p.Cys340Phe)
Xg.41474473C>ACA412992101NYXc.1005C>A (p.Cys335Ter)
c.1020C>A (p.Cys340Ter)
Xg.41474473C=CA2425928085NYXc.1005C= (p.Cys335=)
c.1020C= (p.Cys340=)
Xg.41474473C>GCA412992102NYXc.1005C>G (p.Cys335Trp)
c.1020C>G (p.Cys340Trp)
Xg.41474473C>TCA516366223NYXc.1005C>T (p.Cys335=)
c.1020C>T (p.Cys340=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474474G>ACA10389894NYXc.1006G>A (p.Asp336Asn)
c.1021G>A (p.Asp341Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474474G>CCA412992104NYXc.1006G>C (p.Asp336His)
c.1021G>C (p.Asp341His)
 gnomAD v4
Xg.41474474G=CA2425928086NYXc.1006G= (p.Asp336=)
c.1021G= (p.Asp341=)
Xg.41474474G>TCA412992103NYXc.1006G>T (p.Asp336Tyr)
c.1021G>T (p.Asp341Tyr)
 gnomAD v4
Xg.41474475A>CCA412992105NYXc.1007A>C (p.Asp336Ala)
c.1022A>C (p.Asp341Ala)
Xg.41474475A>GCA412992106NYXc.1007A>G (p.Asp336Gly)
c.1022A>G (p.Asp341Gly)
Xg.41474475A>TCA412992107NYXc.1007A>T (p.Asp336Val)
c.1022A>T (p.Asp341Val)
Xg.41474476C>ACA412992108NYXc.1008C>A (p.Asp336Glu)
c.1023C>A (p.Asp341Glu)
Xg.41474476C>GCA412992109NYXc.1008C>G (p.Asp336Glu)
c.1023C>G (p.Asp341Glu)
Xg.41474476C>TCA516366244NYXc.1008C>T (p.Asp336=)
c.1023C>T (p.Asp341=)
 gnomAD v4
Xg.41474477T>ACA412992110NYXc.1009T>A (p.Cys337Ser)
c.1024T>A (p.Cys342Ser)
Xg.41474477T>CCA412992111NYXc.1009T>C (p.Cys337Arg)
c.1024T>C (p.Cys342Arg)
Xg.41474477T>GCA412992112NYXc.1009T>G (p.Cys337Gly)
c.1024T>G (p.Cys342Gly)
Xg.41474478G>ACA412992113NYXc.1010G>A (p.Cys337Tyr)
c.1025G>A (p.Cys342Tyr)
 gnomAD v4
Xg.41474478G>CCA412992114NYXc.1010G>C (p.Cys337Ser)
c.1025G>C (p.Cys342Ser)
Xg.41474478G>TCA412992115NYXc.1010G>T (p.Cys337Phe)
c.1025G>T (p.Cys342Phe)
 gnomAD v4
Xg.41474479C>ACA412992117NYXc.1011C>A (p.Cys337Ter)
c.1026C>A (p.Cys342Ter)
Xg.41474479C>GCA412992116NYXc.1011C>G (p.Cys337Trp)
c.1026C>G (p.Cys342Trp)
Xg.41474479C>TCA516366250NYXc.1011C>T (p.Cys337=)
c.1026C>T (p.Cys342=)
Xg.41474480delCA2820585822NYXc.1012del (p.Arg338ValfsTer5)
c.1027del (p.Arg343ValfsTer5)
Xg.41474480C>ACA412992118NYXc.1012C>A (p.Arg338Ser)
c.1027C>A (p.Arg343Ser)
Xg.41474480C=CA2425928087NYXc.1012C= (p.Arg338=)
c.1027C= (p.Arg343=)
Xg.41474480C>GCA412992120NYXc.1012C>G (p.Arg338Gly)
c.1027C>G (p.Arg343Gly)
Xg.41474480C>TCA412992119NYXc.1012C>T (p.Arg338Cys)
c.1027C>T (p.Arg343Cys)
 dbSNP gnomAD v4
Xg.41474481G>ACA412992121NYXc.1013G>A (p.Arg338His)
c.1028G>A (p.Arg343His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.41474481G>CCA412992122NYXc.1013G>C (p.Arg338Pro)
c.1028G>C (p.Arg343Pro)
Xg.41474481G=CA2425928088NYXc.1013G= (p.Arg338=)
c.1028G= (p.Arg343=)
Xg.41474481G>TCA412992123NYXc.1013G>T (p.Arg338Leu)
c.1028G>T (p.Arg343Leu)
 gnomAD v4
Xg.41474482T>ACA516366258NYXc.1014T>A (p.Arg338=)
c.1029T>A (p.Arg343=)
Xg.41474482T>CCA516366259NYXc.1014T>C (p.Arg338=)
c.1029T>C (p.Arg343=)
Xg.41474482T>GCA10389895NYXc.1014T>G (p.Arg338=)
c.1029T>G (p.Arg343=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474482T=CA2425928089NYXc.1014T= (p.Arg338=)
c.1029T= (p.Arg343=)
Xg.41474483C>ACA412992124NYXc.1015C>A (p.Leu339Met)
c.1030C>A (p.Leu344Met)
Xg.41474483C=CA2425928090NYXc.1015C= (p.Leu339=)
c.1030C= (p.Leu344=)
Xg.41474483C>GCA412992125NYXc.1015C>G (p.Leu339Val)
c.1030C>G (p.Leu344Val)
 dbSNP gnomAD v4
Xg.41474483C>TCA516366266NYXc.1015C>T (p.Leu339=)
c.1030C>T (p.Leu344=)
Xg.41474484T>ACA412992126NYXc.1016T>A (p.Leu339Gln)
c.1031T>A (p.Leu344Gln)
Xg.41474484T>CCA412992127NYXc.1016T>C (p.Leu339Pro)
c.1031T>C (p.Leu344Pro)
Xg.41474484T>GCA412992128NYXc.1016T>G (p.Leu339Arg)
c.1031T>G (p.Leu344Arg)
Xg.41474485G>ACA516366278NYXc.1017G>A (p.Leu339=)
c.1032G>A (p.Leu344=)
 gnomAD v4
Xg.41474485G>CCA516366277NYXc.1017G>C (p.Leu339=)
c.1032G>C (p.Leu344=)
Xg.41474485G>TCA516366276NYXc.1017G>T (p.Leu339=)
c.1032G>T (p.Leu344=)
 gnomAD v4
Xg.41474486G>ACA412992129NYXc.1018G>A (p.Glu340Lys)
c.1033G>A (p.Glu345Lys)
Xg.41474486G>CCA412992130NYXc.1018G>C (p.Glu340Gln)
c.1033G>C (p.Glu345Gln)
Xg.41474486G>TCA412992131NYXc.1018G>T (p.Glu340Ter)
c.1033G>T (p.Glu345Ter)
 gnomAD v4
Xg.41474487A>CCA412992132NYXc.1019A>C (p.Glu340Ala)
c.1034A>C (p.Glu345Ala)
Xg.41474487A>GCA412992134NYXc.1019A>G (p.Glu340Gly)
c.1034A>G (p.Glu345Gly)
Xg.41474487A>TCA412992133NYXc.1019A>T (p.Glu340Val)
c.1034A>T (p.Glu345Val)
Xg.41474488G>ACA10389896NYXc.1020G>A (p.Glu340=)
c.1035G>A (p.Glu345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474488G>CCA412992135NYXc.1020G>C (p.Glu340Asp)
c.1035G>C (p.Glu345Asp)
Xg.41474488G=CA2425928091NYXc.1020G= (p.Glu340=)
c.1035G= (p.Glu345=)
Xg.41474488G>TCA412992136NYXc.1020G>T (p.Glu340Asp)
c.1035G>T (p.Glu345Asp)
Xg.41474489T>ACA412992137NYXc.1021T>A (p.Trp341Arg)
c.1036T>A (p.Trp346Arg)
Xg.41474489T>CCA412992138NYXc.1021T>C (p.Trp341Arg)
c.1036T>C (p.Trp346Arg)
Xg.41474489T>GCA412992139NYXc.1021T>G (p.Trp341Gly)
c.1036T>G (p.Trp346Gly)
Xg.41474490G>ACA412992140NYXc.1022G>A (p.Trp341Ter)
c.1037G>A (p.Trp346Ter)
Xg.41474490G>CCA412992141NYXc.1022G>C (p.Trp341Ser)
c.1037G>C (p.Trp346Ser)
 gnomAD v4
Xg.41474490G>TCA412992142NYXc.1022G>T (p.Trp341Leu)
c.1037G>T (p.Trp346Leu)
Xg.41474491G>ACA412992144NYXc.1023G>A (p.Trp341Ter)
c.1038G>A (p.Trp346Ter)
 ClinVar
Xg.41474491G>CCA412992145NYXc.1023G>C (p.Trp341Cys)
c.1038G>C (p.Trp346Cys)
Xg.41474491G>TCA412992143NYXc.1023G>T (p.Trp341Cys)
c.1038G>T (p.Trp346Cys)
Xg.41474492C>ACA412992146NYXc.1024C>A (p.Leu342Met)
c.1039C>A (p.Leu347Met)
 gnomAD v4
Xg.41474492C>GCA412992147NYXc.1024C>G (p.Leu342Val)
c.1039C>G (p.Leu347Val)
Xg.41474492C>TCA516366322NYXc.1024C>T (p.Leu342=)
c.1039C>T (p.Leu347=)
 gnomAD v4
Xg.41474493T>ACA412992148NYXc.1025T>A (p.Leu342Gln)
c.1040T>A (p.Leu347Gln)
Xg.41474493T>CCA227933NYXc.1025T>C (p.Leu342Pro)
c.1040T>C (p.Leu347Pro)
 ClinVar dbSNP
Xg.41474493T>GCA412992149NYXc.1025T>G (p.Leu342Arg)
c.1040T>G (p.Leu347Arg)
Xg.41474493T=CA2425928092NYXc.1025T= (p.Leu342=)
c.1040T= (p.Leu347=)
Xg.41474494G>ACA516366330NYXc.1026G>A (p.Leu342=)
c.1041G>A (p.Leu347=)
Xg.41474494G>CCA516366331NYXc.1026G>C (p.Leu342=)
c.1041G>C (p.Leu347=)
Xg.41474494G>TCA516366339NYXc.1026G>T (p.Leu342=)
c.1041G>T (p.Leu347=)
Xg.41474495A=CA2425928093NYXc.1027A= (p.Arg343=)
c.1042A= (p.Arg348=)
Xg.41474495A>CCA516366343NYXc.1027A>C (p.Arg343=)
c.1042A>C (p.Arg348=)
Xg.41474495A>GCA10389897NYXc.1027A>G (p.Arg343Gly)
c.1042A>G (p.Arg348Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474495A>TCA412992150NYXc.1027A>T (p.Arg343Trp)
c.1042A>T (p.Arg348Trp)
Xg.41474496G>ACA10389898NYXc.1028G>A (p.Arg343Lys)
c.1043G>A (p.Arg348Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474496G>CCA412992151NYXc.1028G>C (p.Arg343Thr)
c.1043G>C (p.Arg348Thr)
Xg.41474496G=CA2425928094NYXc.1028G= (p.Arg343=)
c.1043G= (p.Arg348=)
Xg.41474496G>TCA412992152NYXc.1028G>T (p.Arg343Met)
c.1043G>T (p.Arg348Met)
Xg.41474497G>ACA516366358NYXc.1029G>A (p.Arg343=)
c.1044G>A (p.Arg348=)
Xg.41474497G>CCA412992153NYXc.1029G>C (p.Arg343Ser)
c.1044G>C (p.Arg348Ser)
Xg.41474497G>TCA412992154NYXc.1029G>T (p.Arg343Ser)
c.1044G>T (p.Arg348Ser)
 gnomAD v4
Xg.41474498G>ACA412992156NYXc.1030G>A (p.Asp344Asn)
c.1045G>A (p.Asp349Asn)
 gnomAD v4 COSMIC
Xg.41474498G>CCA412992157NYXc.1030G>C (p.Asp344His)
c.1045G>C (p.Asp349His)
Xg.41474498G>TCA412992155NYXc.1030G>T (p.Asp344Tyr)
c.1045G>T (p.Asp349Tyr)
 gnomAD v4
Xg.41474499A=CA2425928095NYXc.1031A= (p.Asp344=)
c.1046A= (p.Asp349=)
Xg.41474499A>CCA412992158NYXc.1031A>C (p.Asp344Ala)
c.1046A>C (p.Asp349Ala)
Xg.41474499A>GCA412992159NYXc.1031A>G (p.Asp344Gly)
c.1046A>G (p.Asp349Gly)
Xg.41474499A>TCA10389899NYXc.1031A>T (p.Asp344Val)
c.1046A>T (p.Asp349Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474500C>ACA412992160NYXc.1032C>A (p.Asp344Glu)
c.1047C>A (p.Asp349Glu)
Xg.41474500C>GCA412992161NYXc.1032C>G (p.Asp344Glu)
c.1047C>G (p.Asp349Glu)
 ClinVar
Xg.41474500C>TCA516366371NYXc.1032C>T (p.Asp344=)
c.1047C>T (p.Asp349=)
Xg.41474501T>ACA412992164NYXc.1033T>A (p.Trp345Arg)
c.1048T>A (p.Trp350Arg)
Xg.41474501T>CCA412992162NYXc.1033T>C (p.Trp345Arg)
c.1048T>C (p.Trp350Arg)
 gnomAD v4
Xg.41474501T>GCA412992163NYXc.1033T>G (p.Trp345Gly)
c.1048T>G (p.Trp350Gly)
Xg.41474502G>ACA227934NYXc.1034G>A (p.Trp345Ter)
c.1049G>A (p.Trp350Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474502G>CCA412992165NYXc.1034G>C (p.Trp345Ser)
c.1049G>C (p.Trp350Ser)
Xg.41474502G=CA2425928096NYXc.1034G= (p.Trp345=)
c.1049G= (p.Trp350=)
Xg.41474502G>TCA412992166NYXc.1034G>T (p.Trp345Leu)
c.1049G>T (p.Trp350Leu)

Number of alleles fetched