Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018395delCA2574047893HJVc.965del (p.Pro322LeufsTer17)
c.287del (p.Pro96LeufsTer17)
c.626del (p.Pro209LeufsTer17)
1g.146018395G>ACA420603374HJVc.963C>T (p.Cys321=)
c.285C>T (p.Cys95=)
c.624C>T (p.Cys208=)
1g.146018395G>CCA1053929HJVc.963C>G (p.Cys321Trp)
c.285C>G (p.Cys95Trp)
c.624C>G (p.Cys208Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018395G=CA1141581027HJVc.963C= (p.Cys321=)
c.285C= (p.Cys95=)
c.624C= (p.Cys208=)
1g.146018395G>TCA252257HJVc.963C>A (p.Cys321Ter)
c.285C>A (p.Cys95Ter)
c.624C>A (p.Cys208Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018395_146018396delinsTTCA2586967192HJVc.962_963delinsAA (p.Cys321Ter)
c.284_285delinsAA (p.Cys95Ter)
c.623_624delinsAA (p.Cys208Ter)
 ClinVar
1g.146018396C>ACA29823605HJVc.962G>T (p.Cys321Phe)
c.284G>T (p.Cys95Phe)
c.623G>T (p.Cys208Phe)
1g.146018396C=CA1198820949HJVc.962G= (p.Cys321=)
c.284G= (p.Cys95=)
c.623G= (p.Cys208=)
1g.146018396C>GCA29823613HJVc.962G>C (p.Cys321Ser)
c.284G>C (p.Cys95Ser)
c.623G>C (p.Cys208Ser)
1g.146018396C>TCA1053928HJVc.962G>A (p.Cys321Tyr)
c.284G>A (p.Cys95Tyr)
c.623G>A (p.Cys208Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018397A>CCA342135083HJVc.961T>G (p.Cys321Gly)
c.283T>G (p.Cys95Gly)
c.622T>G (p.Cys208Gly)
1g.146018397A>GCA342135087HJVc.961T>C (p.Cys321Arg)
c.283T>C (p.Cys95Arg)
c.622T>C (p.Cys208Arg)
1g.146018397A>TCA342135090HJVc.961T>A (p.Cys321Ser)
c.283T>A (p.Cys95Ser)
c.622T>A (p.Cys208Ser)
1g.146018397_146018398delinsACCA1198820950HJVc.960_961delinsGT (p.Gly320=)
c.282_283delinsGT (p.Gly94=)
c.621_622delinsGT (p.Gly207=)
1g.146018398C>ACA1053927HJVc.960G>T (p.Gly320=)
c.282G>T (p.Gly94=)
c.621G>T (p.Gly207=)
 ClinVar dbSNP ExAC gnomAD v4
1g.146018398C=CA1198820951HJVc.960G= (p.Gly320=)
c.282G= (p.Gly94=)
c.621G= (p.Gly207=)
1g.146018398C>GCA29823624HJVc.960G>C (p.Gly320=)
c.282G>C (p.Gly94=)
c.621G>C (p.Gly207=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018398C>TCA29823629HJVc.960G>A (p.Gly320=)
c.282G>A (p.Gly94=)
c.621G>A (p.Gly207=)
 ClinVar dbSNP gnomAD v4
1g.146018403dupCA1053924HJVc.960dup (p.Cys321ValfsTer21)
c.282dup (p.Cys95ValfsTer21)
c.621dup (p.Cys208ValfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018403delCA526253952HJVc.960del (p.Cys321AlafsTer18)
c.282del (p.Cys95AlafsTer18)
c.621del (p.Cys208AlafsTer18)
 dbSNP gnomAD v2 gnomAD v4
1g.146018399C>ACA252249HJVc.959G>T (p.Gly320Val)
c.281G>T (p.Gly94Val)
c.620G>T (p.Gly207Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018399C=CA1140886749HJVc.959G= (p.Gly320=)
c.281G= (p.Gly94=)
c.620G= (p.Gly207=)
1g.146018399C>GCA342135108HJVc.959G>C (p.Gly320Ala)
c.281G>C (p.Gly94Ala)
c.620G>C (p.Gly207Ala)
 gnomAD v4
1g.146018399C>TCA342135102HJVc.959G>A (p.Gly320Glu)
c.281G>A (p.Gly94Glu)
c.620G>A (p.Gly207Glu)
 gnomAD v4
1g.146018399_146018400insACA2745933938HJVc.958_959insT (p.Gly320ValfsTer22)
c.280_281insT (p.Gly94ValfsTer22)
c.619_620insT (p.Gly207ValfsTer22)
1g.146018400C>ACA1053926HJVc.958G>T (p.Gly320Trp)
c.280G>T (p.Gly94Trp)
c.619G>T (p.Gly207Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018400C=CA1198820952HJVc.958G= (p.Gly320=)
c.280G= (p.Gly94=)
c.619G= (p.Gly207=)
1g.146018400C>GCA29823639HJVc.958G>C (p.Gly320Arg)
c.280G>C (p.Gly94Arg)
c.619G>C (p.Gly207Arg)
1g.146018400C>TCA29823642HJVc.958G>A (p.Gly320Arg)
c.280G>A (p.Gly94Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
1g.146018401C>ACA420603383HJVc.957G>T (p.Gly319=)
c.279G>T (p.Gly93=)
c.618G>T (p.Gly206=)
1g.146018401C>GCA420603384HJVc.957G>C (p.Gly319=)
c.279G>C (p.Gly93=)
c.618G>C (p.Gly206=)
1g.146018401C>TCA420603382HJVc.957G>A (p.Gly319=)
c.279G>A (p.Gly93=)
c.618G>A (p.Gly206=)
1g.146018402_146018403insACCCCAAACACACCCA2745933939HJVc.957_958insTGTGTTTGGGGTGG (p.Gly320CysfsTer24)
c.279_280insTGTGTTTGGGGTGG (p.Gly94CysfsTer24)
c.618_619insTGTGTTTGGGGTGG (p.Gly207CysfsTer24)
1g.146018402C>ACA342135136HJVc.956G>T (p.Gly319Val)
c.278G>T (p.Gly93Val)
c.617G>T (p.Gly206Val)
1g.146018402C=CA1141668450HJVc.956G= (p.Gly319=)
c.278G= (p.Gly93=)
c.617G= (p.Gly206=)
1g.146018402C>GCA1053925HJVc.956G>C (p.Gly319Ala)
c.278G>C (p.Gly93Ala)
c.617G>C (p.Gly206Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018402C>TCA342135140HJVc.956G>A (p.Gly319Glu)
c.278G>A (p.Gly93Glu)
c.617G>A (p.Gly206Glu)
 COSMIC
1g.146018402_146018403insGCA342135141HJVc.955_956insC (p.Gly319AlafsTer23)
c.277_278insC (p.Gly93AlafsTer23)
c.616_617insC (p.Gly206AlafsTer23)
1g.146018403C>ACA342135149HJVc.955G>T (p.Gly319Trp)
c.277G>T (p.Gly93Trp)
c.616G>T (p.Gly206Trp)
1g.146018403C=CA1198820953HJVc.955G= (p.Gly319=)
c.277G= (p.Gly93=)
c.616G= (p.Gly206=)
1g.146018403C>GCA342135148HJVc.955G>C (p.Gly319Arg)
c.277G>C (p.Gly93Arg)
c.616G>C (p.Gly206Arg)
1g.146018403C>TCA342135143HJVc.955G>A (p.Gly319Arg)
c.277G>A (p.Gly93Arg)
c.616G>A (p.Gly206Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.146018403_146018404insGCA29823652HJVc.954_955insC (p.Gly319ArgfsTer23)
c.276_277insC (p.Gly93ArgfsTer23)
c.615_616insC (p.Gly206ArgfsTer23)
1g.146018404A=CA1198820954HJVc.954T= (p.Val318=)
c.276T= (p.Val92=)
c.615T= (p.Val205=)
1g.146018404A>CCA420603389HJVc.954T>G (p.Val318=)
c.276T>G (p.Val92=)
c.615T>G (p.Val205=)
1g.146018404A>GCA420603388HJVc.954T>C (p.Val318=)
c.276T>C (p.Val92=)
c.615T>C (p.Val205=)
 gnomAD v4
1g.146018404A>TCA420603390HJVc.954T>A (p.Val318=)
c.276T>A (p.Val92=)
c.615T>A (p.Val205=)
 dbSNP gnomAD v4
1g.146018405A=CA1198820955HJVc.953T= (p.Val318=)
c.275T= (p.Val92=)
c.614T= (p.Val205=)
1g.146018405A>CCA342135167HJVc.953T>G (p.Val318Gly)
c.275T>G (p.Val92Gly)
c.614T>G (p.Val205Gly)
1g.146018405A>GCA342135173HJVc.953T>C (p.Val318Ala)
c.275T>C (p.Val92Ala)
c.614T>C (p.Val205Ala)
 dbSNP gnomAD v4

Number of alleles fetched