Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91305735G>CCA2626131612CCDC88Cc.3357+30C>G (n.3357+30C>G)
c.3249+30C>G (n.3249+30C>G)
n.3485+30C>G
c.438+30C>G (n.438+30C>G)
n.3483+30C>G
 gnomAD v4
14g.91305735G>TCA2626131613CCDC88Cc.3357+30C>A (n.3357+30C>A)
c.3249+30C>A (n.3249+30C>A)
n.3485+30C>A
c.438+30C>A (n.438+30C>A)
n.3483+30C>A
 gnomAD v4
14g.91305737G>ACA7309378CCDC88Cc.3357+28C>T (n.3357+28C>T)
c.3249+28C>T (n.3249+28C>T)
n.3485+28C>T
c.438+28C>T (n.438+28C>T)
n.3483+28C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305737G=CA2154901180CCDC88Cc.3357+28C= (n.3357+28C=)
c.3249+28C= (n.3249+28C=)
n.3485+28C=
c.438+28C= (n.438+28C=)
n.3483+28C=
14g.91305737G>TCA2802581630CCDC88Cc.3357+28C>A (n.3357+28C>A)
c.3249+28C>A (n.3249+28C>A)
n.3485+28C>A
c.438+28C>A (n.438+28C>A)
n.3483+28C>A
14g.91305740C=CA2154901182CCDC88Cc.3357+25G= (n.3357+25G=)
c.3249+25G= (n.3249+25G=)
n.3485+25G=
c.438+25G= (n.438+25G=)
n.3483+25G=
14g.91305740C>TCA2154901184CCDC88Cc.3357+25G>A (n.3357+25G>A)
c.3249+25G>A (n.3249+25G>A)
n.3485+25G>A
c.438+25G>A (n.438+25G>A)
n.3483+25G>A
 dbSNP gnomAD v4
14g.91305741A=CA2154901186CCDC88Cc.3357+24T= (n.3357+24T=)
c.3249+24T= (n.3249+24T=)
n.3485+24T=
c.438+24T= (n.438+24T=)
n.3483+24T=
14g.91305741A>GCA965930201CCDC88Cc.3357+24T>C (n.3357+24T>C)
c.3249+24T>C (n.3249+24T>C)
n.3485+24T>C
c.438+24T>C (n.438+24T>C)
n.3483+24T>C
 dbSNP gnomAD v3 gnomAD v4
14g.91305743T>CCA2626131614CCDC88Cc.3357+22A>G (n.3357+22A>G)
c.3249+22A>G (n.3249+22A>G)
n.3485+22A>G
c.438+22A>G (n.438+22A>G)
n.3483+22A>G
 gnomAD v4
14g.91305744G>CCA2575603282CCDC88Cc.3357+21C>G (n.3357+21C>G)
c.3249+21C>G (n.3249+21C>G)
n.3485+21C>G
c.438+21C>G (n.438+21C>G)
n.3483+21C>G
14g.91305744_91305746delinsGGTCA2154901188CCDC88Cc.3357+19_3357+21delinsACC (n.3357+19_3357+21delinsACC)
c.3249+19_3249+21delinsACC (n.3249+19_3249+21delinsACC)
n.3485+19_3485+21delinsACC
c.438+19_438+21delinsACC (n.438+19_438+21delinsACC)
n.3483+19_3483+21delinsACC
14g.91305747_91305748delCA2154901190CCDC88Cc.3357+19_3357+20del (n.3357+19_3357+20del)
c.3249+19_3249+20del (n.3249+19_3249+20del)
n.3485+19_3485+20del
c.438+19_438+20del (n.438+19_438+20del)
n.3483+19_3483+20del
 dbSNP
14g.91305746T>ACA2626131615CCDC88Cc.3357+19A>T (n.3357+19A>T)
c.3249+19A>T (n.3249+19A>T)
n.3485+19A>T
c.438+19A>T (n.438+19A>T)
n.3483+19A>T
 gnomAD v4
14g.91305746T>CCA616112420CCDC88Cc.3357+19A>G (n.3357+19A>G)
c.3249+19A>G (n.3249+19A>G)
n.3485+19A>G
c.438+19A>G (n.438+19A>G)
n.3483+19A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91305746T=CA2154901193CCDC88Cc.3357+19A= (n.3357+19A=)
c.3249+19A= (n.3249+19A=)
n.3485+19A=
c.438+19A= (n.438+19A=)
n.3483+19A=
14g.91305746_91305752delinsTGTTGGGCA2154901192CCDC88Cc.3357+13_3357+19delinsCCCAACA (n.3357+13_3357+19delinsCCCAACA)
c.3249+13_3249+19delinsCCCAACA (n.3249+13_3249+19delinsCCCAACA)
n.3485+13_3485+19delinsCCCAACA
c.438+13_438+19delinsCCCAACA (n.438+13_438+19delinsCCCAACA)
n.3483+13_3483+19delinsCCCAACA
14g.91305747G>ACA616112421CCDC88Cc.3357+18C>T (n.3357+18C>T)
c.3249+18C>T (n.3249+18C>T)
n.3485+18C>T
c.438+18C>T (n.438+18C>T)
n.3483+18C>T
 dbSNP gnomAD v2
14g.91305747G=CA2154901197CCDC88Cc.3357+18C= (n.3357+18C=)
c.3249+18C= (n.3249+18C=)
n.3485+18C=
c.438+18C= (n.438+18C=)
n.3483+18C=
14g.91305747_91305752delCA7309379CCDC88Cc.3357+13_3357+18del (n.3357+13_3357+18del)
c.3249+13_3249+18del (n.3249+13_3249+18del)
n.3485+13_3485+18del
c.438+13_438+18del (n.438+13_438+18del)
n.3483+13_3483+18del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305748T>GCA616112422CCDC88Cc.3357+17A>C (n.3357+17A>C)
c.3249+17A>C (n.3249+17A>C)
n.3485+17A>C
c.438+17A>C (n.438+17A>C)
n.3483+17A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305748T=CA2154901200CCDC88Cc.3357+17A= (n.3357+17A=)
c.3249+17A= (n.3249+17A=)
n.3485+17A=
c.438+17A= (n.438+17A=)
n.3483+17A=
14g.91305749T>CCA2154901207CCDC88Cc.3357+16A>G (n.3357+16A>G)
c.3249+16A>G (n.3249+16A>G)
n.3485+16A>G
c.438+16A>G (n.438+16A>G)
n.3483+16A>G
 dbSNP
14g.91305749T=CA2154901206CCDC88Cc.3357+16A= (n.3357+16A=)
c.3249+16A= (n.3249+16A=)
n.3485+16A=
c.438+16A= (n.438+16A=)
n.3483+16A=
14g.91305750G>ACA616112423CCDC88Cc.3357+15C>T (n.3357+15C>T)
c.3249+15C>T (n.3249+15C>T)
n.3485+15C>T
c.438+15C>T (n.438+15C>T)
n.3483+15C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305750G>CCA2802581631CCDC88Cc.3357+15C>G (n.3357+15C>G)
c.3249+15C>G (n.3249+15C>G)
n.3485+15C>G
c.438+15C>G (n.438+15C>G)
n.3483+15C>G
14g.91305750G=CA2154901210CCDC88Cc.3357+15C= (n.3357+15C=)
c.3249+15C= (n.3249+15C=)
n.3485+15C=
c.438+15C= (n.438+15C=)
n.3483+15C=
14g.91305750G>TCA7309380CCDC88Cc.3357+15C>A (n.3357+15C>A)
c.3249+15C>A (n.3249+15C>A)
n.3485+15C>A
c.438+15C>A (n.438+15C>A)
n.3483+15C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305751G>ACA616112424CCDC88Cc.3357+14C>T (n.3357+14C>T)
c.3249+14C>T (n.3249+14C>T)
n.3485+14C>T
c.438+14C>T (n.438+14C>T)
n.3483+14C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305751G>CCA2154901216CCDC88Cc.3357+14C>G (n.3357+14C>G)
c.3249+14C>G (n.3249+14C>G)
n.3485+14C>G
c.438+14C>G (n.438+14C>G)
n.3483+14C>G
 dbSNP
14g.91305751G=CA2154901215CCDC88Cc.3357+14C= (n.3357+14C=)
c.3249+14C= (n.3249+14C=)
n.3485+14C=
c.438+14C= (n.438+14C=)
n.3483+14C=
14g.91305752G>ACA7309381CCDC88Cc.3357+13C>T (n.3357+13C>T)
c.3249+13C>T (n.3249+13C>T)
n.3485+13C>T
c.438+13C>T (n.438+13C>T)
n.3483+13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305752G=CA2154901219CCDC88Cc.3357+13C= (n.3357+13C=)
c.3249+13C= (n.3249+13C=)
n.3485+13C=
c.438+13C= (n.438+13C=)
n.3483+13C=
14g.91305752_91305753insCACACA7309382CCDC88Cc.3357+12_3357+13insTGTG (n.3357+12_3357+13insTGTG)
c.3249+12_3249+13insTGTG (n.3249+12_3249+13insTGTG)
n.3485+12_3485+13insTGTG
c.438+12_438+13insTGTG (n.438+12_438+13insTGTG)
n.3483+12_3483+13insTGTG
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305754G>ACA2626131617CCDC88Cc.3357+11C>T (n.3357+11C>T)
c.3249+11C>T (n.3249+11C>T)
n.3485+11C>T
c.438+11C>T (n.438+11C>T)
n.3483+11C>T
 ClinVar gnomAD v4
14g.91305754G>CCA2154901224CCDC88Cc.3357+11C>G (n.3357+11C>G)
c.3249+11C>G (n.3249+11C>G)
n.3485+11C>G
c.438+11C>G (n.438+11C>G)
n.3483+11C>G
 dbSNP gnomAD v4
14g.91305754G=CA2154901225CCDC88Cc.3357+11C= (n.3357+11C=)
c.3249+11C= (n.3249+11C=)
n.3485+11C=
c.438+11C= (n.438+11C=)
n.3483+11C=
14g.91305754G>TCA7309383CCDC88Cc.3357+11C>A (n.3357+11C>A)
c.3249+11C>A (n.3249+11C>A)
n.3485+11C>A
c.438+11C>A (n.438+11C>A)
n.3483+11C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305755C>ACA2154901232CCDC88Cc.3357+10G>T (n.3357+10G>T)
c.3249+10G>T (n.3249+10G>T)
n.3485+10G>T
c.438+10G>T (n.438+10G>T)
n.3483+10G>T
 ClinVar dbSNP gnomAD v4
14g.91305755C=CA2154901230CCDC88Cc.3357+10G= (n.3357+10G=)
c.3249+10G= (n.3249+10G=)
n.3485+10G=
c.438+10G= (n.438+10G=)
n.3483+10G=
14g.91305755C>GCA2626131620CCDC88Cc.3357+10G>C (n.3357+10G>C)
c.3249+10G>C (n.3249+10G>C)
n.3485+10G>C
c.438+10G>C (n.438+10G>C)
n.3483+10G>C
 gnomAD v4
14g.91305755C>TCA7309384CCDC88Cc.3357+10G>A (n.3357+10G>A)
c.3249+10G>A (n.3249+10G>A)
n.3485+10G>A
c.438+10G>A (n.438+10G>A)
n.3483+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305758delCA2626131619CCDC88Cc.3357+10del (n.3357+10del)
c.3249+10del (n.3249+10del)
n.3485+10del
c.438+10del (n.438+10del)
n.3483+10del
 gnomAD v4
14g.91305756C=CA2154901238CCDC88Cc.3357+9G= (n.3357+9G=)
c.3249+9G= (n.3249+9G=)
n.3485+9G=
c.438+9G= (n.438+9G=)
n.3483+9G=
14g.91305756C>GCA616112425CCDC88Cc.3357+9G>C (n.3357+9G>C)
c.3249+9G>C (n.3249+9G>C)
n.3485+9G>C
c.438+9G>C (n.438+9G>C)
n.3483+9G>C
 dbSNP gnomAD v2 gnomAD v4
14g.91305756C>TCA7309385CCDC88Cc.3357+9G>A (n.3357+9G>A)
c.3249+9G>A (n.3249+9G>A)
n.3485+9G>A
c.438+9G>A (n.438+9G>A)
n.3483+9G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305757C>TCA2626131629CCDC88Cc.3357+8G>A (n.3357+8G>A)
c.3249+8G>A (n.3249+8G>A)
n.3485+8G>A
c.438+8G>A (n.438+8G>A)
n.3483+8G>A
 gnomAD v4
14g.91305758C=CA2154901242CCDC88Cc.3357+7G= (n.3357+7G=)
c.3249+7G= (n.3249+7G=)
n.3485+7G=
c.438+7G= (n.438+7G=)
n.3483+7G=
14g.91305758C>TCA7309386CCDC88Cc.3357+7G>A (n.3357+7G>A)
c.3249+7G>A (n.3249+7G>A)
n.3485+7G>A
c.438+7G>A (n.438+7G>A)
n.3483+7G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305759G>ACA7309387CCDC88Cc.3357+6C>T (n.3357+6C>T)
c.3249+6C>T (n.3249+6C>T)
n.3485+6C>T
c.438+6C>T (n.438+6C>T)
n.3483+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305759G=CA2154901249CCDC88Cc.3357+6C= (n.3357+6C=)
c.3249+6C= (n.3249+6C=)
n.3485+6C=
c.438+6C= (n.438+6C=)
n.3483+6C=
14g.91305760C=CA2154901257CCDC88Cc.3357+5G= (n.3357+5G=)
c.3249+5G= (n.3249+5G=)
n.3485+5G=
c.438+5G= (n.438+5G=)
n.3483+5G=
14g.91305760C>TCA7309388CCDC88Cc.3357+5G>A (n.3357+5G>A)
c.3249+5G>A (n.3249+5G>A)
n.3485+5G>A
c.438+5G>A (n.438+5G>A)
n.3483+5G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305762C>ACA2565422944CCDC88Cc.3357+3G>T (n.3357+3G>T)
c.3249+3G>T (n.3249+3G>T)
n.3485+3G>T
c.438+3G>T (n.438+3G>T)
n.3483+3G>T
14g.91305763A>CCA390623030CCDC88Cc.3357+2T>G (n.3357+2T>G)
c.3249+2T>G (n.3249+2T>G)
n.3485+2T>G
c.438+2T>G (n.438+2T>G)
n.3483+2T>G
14g.91305763A>GCA390623027CCDC88Cc.3357+2T>C (n.3357+2T>C)
c.3249+2T>C (n.3249+2T>C)
n.3485+2T>C
c.438+2T>C (n.438+2T>C)
n.3483+2T>C
14g.91305763A>TCA390623032CCDC88Cc.3357+2T>A (n.3357+2T>A)
c.3249+2T>A (n.3249+2T>A)
n.3485+2T>A
c.438+2T>A (n.438+2T>A)
n.3483+2T>A
14g.91305764C>ACA390623034CCDC88Cc.3357+1G>T (n.3357+1G>T)
c.3249+1G>T (n.3249+1G>T)
n.3485+1G>T
c.438+1G>T (n.438+1G>T)
n.3483+1G>T
14g.91305764C>GCA390623039CCDC88Cc.3357+1G>C (n.3357+1G>C)
c.3249+1G>C (n.3249+1G>C)
n.3485+1G>C
c.438+1G>C (n.438+1G>C)
n.3483+1G>C
14g.91305764C>TCA390623037CCDC88Cc.3357+1G>A (n.3357+1G>A)
c.3249+1G>A (n.3249+1G>A)
n.3485+1G>A
c.438+1G>A (n.438+1G>A)
n.3483+1G>A
14g.91305765C>ACA390623041CCDC88Cc.3357G>T (p.Gln1119His)
c.3249G>T (p.Gln1083His)
n.3485G>T
c.438G>T (p.Gln146His)
n.3483G>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305765C=CA2154901261CCDC88Cc.3357G= (p.Gln1119=)
c.3249G= (p.Gln1083=)
n.3485G=
c.438G= (p.Gln146=)
n.3483G=
14g.91305765C>GCA390623043CCDC88Cc.3357G>C (p.Gln1119His)
c.3249G>C (p.Gln1083His)
n.3485G>C
c.438G>C (p.Gln146His)
n.3483G>C
14g.91305765C>TCA487549012CCDC88Cc.3357G>A (p.Gln1119=)
c.3249G>A (p.Gln1083=)
n.3485G>A
c.438G>A (p.Gln146=)
n.3483G>A
14g.91305766T>ACA390623045CCDC88Cc.3356A>T (p.Gln1119Leu)
c.3248A>T (p.Gln1083Leu)
n.3484A>T
c.437A>T (p.Gln146Leu)
n.3482A>T
 gnomAD v4
14g.91305766T>CCA390623048CCDC88Cc.3356A>G (p.Gln1119Arg)
c.3248A>G (p.Gln1083Arg)
n.3484A>G
c.437A>G (p.Gln146Arg)
n.3482A>G
 gnomAD v4 COSMIC COSMIC
14g.91305766T>GCA390623050CCDC88Cc.3356A>C (p.Gln1119Pro)
c.3248A>C (p.Gln1083Pro)
n.3484A>C
c.437A>C (p.Gln146Pro)
n.3482A>C
14g.91305767G>ACA390623052CCDC88Cc.3355C>T (p.Gln1119Ter)
c.3247C>T (p.Gln1083Ter)
n.3483C>T
c.436C>T (p.Gln146Ter)
n.3481C>T
14g.91305767G>CCA390623054CCDC88Cc.3355C>G (p.Gln1119Glu)
c.3247C>G (p.Gln1083Glu)
n.3483C>G
c.436C>G (p.Gln146Glu)
n.3481C>G
14g.91305767G>TCA390623056CCDC88Cc.3355C>A (p.Gln1119Lys)
c.3247C>A (p.Gln1083Lys)
n.3483C>A
c.436C>A (p.Gln146Lys)
n.3481C>A
14g.91305768C>ACA487549013CCDC88Cc.3354G>T (p.Leu1118=)
c.3246G>T (p.Leu1082=)
n.3482G>T
c.435G>T (p.Leu145=)
n.3480G>T
14g.91305768C>GCA487549015CCDC88Cc.3354G>C (p.Leu1118=)
c.3246G>C (p.Leu1082=)
n.3482G>C
c.435G>C (p.Leu145=)
n.3480G>C
14g.91305768C>TCA487549014CCDC88Cc.3354G>A (p.Leu1118=)
c.3246G>A (p.Leu1082=)
n.3482G>A
c.435G>A (p.Leu145=)
n.3480G>A
14g.91305769A>CCA390623059CCDC88Cc.3353T>G (p.Leu1118Arg)
c.3245T>G (p.Leu1082Arg)
n.3481T>G
c.434T>G (p.Leu145Arg)
n.3479T>G
14g.91305769A>GCA390623060CCDC88Cc.3353T>C (p.Leu1118Pro)
c.3245T>C (p.Leu1082Pro)
n.3481T>C
c.434T>C (p.Leu145Pro)
n.3479T>C
14g.91305769A>TCA390623062CCDC88Cc.3353T>A (p.Leu1118Gln)
c.3245T>A (p.Leu1082Gln)
n.3481T>A
c.434T>A (p.Leu145Gln)
n.3479T>A
14g.91305770G>ACA487549016CCDC88Cc.3352C>T (p.Leu1118=)
c.3244C>T (p.Leu1082=)
n.3480C>T
c.433C>T (p.Leu145=)
n.3478C>T
14g.91305770G>CCA390623066CCDC88Cc.3352C>G (p.Leu1118Val)
c.3244C>G (p.Leu1082Val)
n.3480C>G
c.433C>G (p.Leu145Val)
n.3478C>G
14g.91305770G>TCA390623065CCDC88Cc.3352C>A (p.Leu1118Met)
c.3244C>A (p.Leu1082Met)
n.3480C>A
c.433C>A (p.Leu145Met)
n.3478C>A
 gnomAD v4
14g.91305771C>ACA390623068CCDC88Cc.3351G>T (p.Lys1117Asn)
c.3243G>T (p.Lys1081Asn)
n.3479G>T
c.432G>T (p.Lys144Asn)
n.3477G>T
 gnomAD v4
14g.91305771C>GCA390623070CCDC88Cc.3351G>C (p.Lys1117Asn)
c.3243G>C (p.Lys1081Asn)
n.3479G>C
c.432G>C (p.Lys144Asn)
n.3477G>C
14g.91305771C>TCA487549018CCDC88Cc.3351G>A (p.Lys1117=)
c.3243G>A (p.Lys1081=)
n.3479G>A
c.432G>A (p.Lys144=)
n.3477G>A
14g.91305772T>ACA390623072CCDC88Cc.3350A>T (p.Lys1117Met)
c.3242A>T (p.Lys1081Met)
n.3478A>T
c.431A>T (p.Lys144Met)
n.3476A>T
14g.91305772T>CCA390623074CCDC88Cc.3350A>G (p.Lys1117Arg)
c.3242A>G (p.Lys1081Arg)
n.3478A>G
c.431A>G (p.Lys144Arg)
n.3476A>G
14g.91305772T>GCA390623076CCDC88Cc.3350A>C (p.Lys1117Thr)
c.3242A>C (p.Lys1081Thr)
n.3478A>C
c.431A>C (p.Lys144Thr)
n.3476A>C
14g.91305773T>ACA390623078CCDC88Cc.3349A>T (p.Lys1117Ter)
c.3241A>T (p.Lys1081Ter)
n.3477A>T
c.430A>T (p.Lys144Ter)
n.3475A>T
14g.91305773T>CCA390623080CCDC88Cc.3349A>G (p.Lys1117Glu)
c.3241A>G (p.Lys1081Glu)
n.3477A>G
c.430A>G (p.Lys144Glu)
n.3475A>G
14g.91305773T>GCA390623082CCDC88Cc.3349A>C (p.Lys1117Gln)
c.3241A>C (p.Lys1081Gln)
n.3477A>C
c.430A>C (p.Lys144Gln)
n.3475A>C
14g.91305774G>ACA487549019CCDC88Cc.3348C>T (p.Ala1116=)
c.3240C>T (p.Ala1080=)
n.3476C>T
c.429C>T (p.Ala143=)
n.3474C>T
 gnomAD v4
14g.91305774G>CCA487549020CCDC88Cc.3348C>G (p.Ala1116=)
c.3240C>G (p.Ala1080=)
n.3476C>G
c.429C>G (p.Ala143=)
n.3474C>G
14g.91305774G>TCA487549021CCDC88Cc.3348C>A (p.Ala1116=)
c.3240C>A (p.Ala1080=)
n.3476C>A
c.429C>A (p.Ala143=)
n.3474C>A
14g.91305775G>ACA390623084CCDC88Cc.3347C>T (p.Ala1116Val)
c.3239C>T (p.Ala1080Val)
n.3475C>T
c.428C>T (p.Ala143Val)
n.3473C>T
14g.91305775G>CCA390623086CCDC88Cc.3347C>G (p.Ala1116Gly)
c.3239C>G (p.Ala1080Gly)
n.3475C>G
c.428C>G (p.Ala143Gly)
n.3473C>G
14g.91305775G>TCA390623088CCDC88Cc.3347C>A (p.Ala1116Asp)
c.3239C>A (p.Ala1080Asp)
n.3475C>A
c.428C>A (p.Ala143Asp)
n.3473C>A
14g.91305776C>ACA390623094CCDC88Cc.3346G>T (p.Ala1116Ser)
c.3238G>T (p.Ala1080Ser)
n.3474G>T
c.427G>T (p.Ala143Ser)
n.3472G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305776C=CA2154901266CCDC88Cc.3346G= (p.Ala1116=)
c.3238G= (p.Ala1080=)
n.3474G=
c.427G= (p.Ala143=)
n.3472G=
14g.91305776C>GCA390623092CCDC88Cc.3346G>C (p.Ala1116Pro)
c.3238G>C (p.Ala1080Pro)
n.3474G>C
c.427G>C (p.Ala143Pro)
n.3472G>C
14g.91305776C>TCA7309389CCDC88Cc.3346G>A (p.Ala1116Thr)
c.3238G>A (p.Ala1080Thr)
n.3474G>A
c.427G>A (p.Ala143Thr)
n.3472G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305777G>ACA7309390CCDC88Cc.3345C>T (p.Thr1115=)
c.3237C>T (p.Thr1079=)
n.3473C>T
c.426C>T (p.Thr142=)
n.3471C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305777G>CCA7309391CCDC88Cc.3345C>G (p.Thr1115=)
c.3237C>G (p.Thr1079=)
n.3473C>G
c.426C>G (p.Thr142=)
n.3471C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305777G=CA2154901271CCDC88Cc.3345C= (p.Thr1115=)
c.3237C= (p.Thr1079=)
n.3473C=
c.426C= (p.Thr142=)
n.3471C=
14g.91305777G>TCA487549022CCDC88Cc.3345C>A (p.Thr1115=)
c.3237C>A (p.Thr1079=)
n.3473C>A
c.426C>A (p.Thr142=)
n.3471C>A
14g.91305778G>ACA390623098CCDC88Cc.3344C>T (p.Thr1115Ile)
c.3236C>T (p.Thr1079Ile)
n.3472C>T
c.425C>T (p.Thr142Ile)
n.3470C>T
14g.91305778G>CCA390623099CCDC88Cc.3344C>G (p.Thr1115Ser)
c.3236C>G (p.Thr1079Ser)
n.3472C>G
c.425C>G (p.Thr142Ser)
n.3470C>G
14g.91305778G>TCA390623100CCDC88Cc.3344C>A (p.Thr1115Asn)
c.3236C>A (p.Thr1079Asn)
n.3472C>A
c.425C>A (p.Thr142Asn)
n.3470C>A
 ClinVar
14g.91305779T>ACA390623101CCDC88Cc.3343A>T (p.Thr1115Ser)
c.3235A>T (p.Thr1079Ser)
n.3471A>T
c.424A>T (p.Thr142Ser)
n.3469A>T
14g.91305779T>CCA390623102CCDC88Cc.3343A>G (p.Thr1115Ala)
c.3235A>G (p.Thr1079Ala)
n.3471A>G
c.424A>G (p.Thr142Ala)
n.3469A>G
 gnomAD v4
14g.91305779T>GCA390623103CCDC88Cc.3343A>C (p.Thr1115Pro)
c.3235A>C (p.Thr1079Pro)
n.3471A>C
c.424A>C (p.Thr142Pro)
n.3469A>C
 dbSNP
14g.91305779T=CA2154901275CCDC88Cc.3343A= (p.Thr1115=)
c.3235A= (p.Thr1079=)
n.3471A=
c.424A= (p.Thr142=)
n.3469A=
14g.91305780C>ACA390623104CCDC88Cc.3342G>T (p.Gln1114His)
c.3234G>T (p.Gln1078His)
n.3470G>T
c.423G>T (p.Gln141His)
n.3468G>T
 COSMIC COSMIC
14g.91305780C=CA2154901276CCDC88Cc.3342G= (p.Gln1114=)
c.3234G= (p.Gln1078=)
n.3470G=
c.423G= (p.Gln141=)
n.3468G=
14g.91305780C>GCA390623105CCDC88Cc.3342G>C (p.Gln1114His)
c.3234G>C (p.Gln1078His)
n.3470G>C
c.423G>C (p.Gln141His)
n.3468G>C
14g.91305780C>TCA487549023CCDC88Cc.3342G>A (p.Gln1114=)
c.3234G>A (p.Gln1078=)
n.3470G>A
c.423G>A (p.Gln141=)
n.3468G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91305781T>ACA390623106CCDC88Cc.3341A>T (p.Gln1114Leu)
c.3233A>T (p.Gln1078Leu)
n.3469A>T
c.422A>T (p.Gln141Leu)
n.3467A>T
14g.91305781T>CCA390623107CCDC88Cc.3341A>G (p.Gln1114Arg)
c.3233A>G (p.Gln1078Arg)
n.3469A>G
c.422A>G (p.Gln141Arg)
n.3467A>G
 dbSNP gnomAD v2 gnomAD v4
14g.91305781T>GCA390623108CCDC88Cc.3341A>C (p.Gln1114Pro)
c.3233A>C (p.Gln1078Pro)
n.3469A>C
c.422A>C (p.Gln141Pro)
n.3467A>C
14g.91305781T=CA2154901279CCDC88Cc.3341A= (p.Gln1114=)
c.3233A= (p.Gln1078=)
n.3469A=
c.422A= (p.Gln141=)
n.3467A=
14g.91305782G>ACA390623109CCDC88Cc.3340C>T (p.Gln1114Ter)
c.3232C>T (p.Gln1078Ter)
n.3468C>T
c.421C>T (p.Gln141Ter)
n.3466C>T
14g.91305782G>CCA390623111CCDC88Cc.3340C>G (p.Gln1114Glu)
c.3232C>G (p.Gln1078Glu)
n.3468C>G
c.421C>G (p.Gln141Glu)
n.3466C>G
14g.91305782G>TCA390623110CCDC88Cc.3340C>A (p.Gln1114Lys)
c.3232C>A (p.Gln1078Lys)
n.3468C>A
c.421C>A (p.Gln141Lys)
n.3466C>A
14g.91305784delCA2575603290CCDC88Cc.3340del (p.Gln1114ArgfsTer12)
c.3232del (p.Gln1078ArgfsTer12)
n.3468del
c.421del (p.Gln141ArgfsTer12)
n.3466del
14g.91305783G>ACA7309393CCDC88Cc.3339C>T (p.Thr1113=)
c.3231C>T (p.Thr1077=)
n.3467C>T
c.420C>T (p.Thr140=)
n.3465C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305783G>CCA7309392CCDC88Cc.3339C>G (p.Thr1113=)
c.3231C>G (p.Thr1077=)
n.3467C>G
c.420C>G (p.Thr140=)
n.3465C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305783G=CA2154901284CCDC88Cc.3339C= (p.Thr1113=)
c.3231C= (p.Thr1077=)
n.3467C=
c.420C= (p.Thr140=)
n.3465C=
14g.91305783G>TCA487549027CCDC88Cc.3339C>A (p.Thr1113=)
c.3231C>A (p.Thr1077=)
n.3467C>A
c.420C>A (p.Thr140=)
n.3465C>A
14g.91305784G>ACA390623112CCDC88Cc.3338C>T (p.Thr1113Ile)
c.3230C>T (p.Thr1077Ile)
n.3466C>T
c.419C>T (p.Thr140Ile)
n.3464C>T
14g.91305784G>CCA390623113CCDC88Cc.3338C>G (p.Thr1113Ser)
c.3230C>G (p.Thr1077Ser)
n.3466C>G
c.419C>G (p.Thr140Ser)
n.3464C>G
14g.91305784G>TCA390623114CCDC88Cc.3338C>A (p.Thr1113Asn)
c.3230C>A (p.Thr1077Asn)
n.3466C>A
c.419C>A (p.Thr140Asn)
n.3464C>A
14g.91305785T>ACA390623115CCDC88Cc.3337A>T (p.Thr1113Ser)
c.3229A>T (p.Thr1077Ser)
n.3465A>T
c.418A>T (p.Thr140Ser)
n.3463A>T
14g.91305785T>CCA390623116CCDC88Cc.3337A>G (p.Thr1113Ala)
c.3229A>G (p.Thr1077Ala)
n.3465A>G
c.418A>G (p.Thr140Ala)
n.3463A>G
14g.91305785T>GCA390623117CCDC88Cc.3337A>C (p.Thr1113Pro)
c.3229A>C (p.Thr1077Pro)
n.3465A>C
c.418A>C (p.Thr140Pro)
n.3463A>C
14g.91305786C>ACA390623118CCDC88Cc.3336G>T (p.Gln1112His)
c.3228G>T (p.Gln1076His)
n.3464G>T
c.417G>T (p.Gln139His)
n.3462G>T
14g.91305786C=CA2154901294CCDC88Cc.3336G= (p.Gln1112=)
c.3228G= (p.Gln1076=)
n.3464G=
c.417G= (p.Gln139=)
n.3462G=
14g.91305786C>GCA390623119CCDC88Cc.3336G>C (p.Gln1112His)
c.3228G>C (p.Gln1076His)
n.3464G>C
c.417G>C (p.Gln139His)
n.3462G>C
 dbSNP
14g.91305786C>TCA487549029CCDC88Cc.3336G>A (p.Gln1112=)
c.3228G>A (p.Gln1076=)
n.3464G>A
c.417G>A (p.Gln139=)
n.3462G>A
14g.91305787T>ACA390623121CCDC88Cc.3335A>T (p.Gln1112Leu)
c.3227A>T (p.Gln1076Leu)
n.3463A>T
c.416A>T (p.Gln139Leu)
n.3461A>T
14g.91305787T>CCA390623122CCDC88Cc.3335A>G (p.Gln1112Arg)
c.3227A>G (p.Gln1076Arg)
n.3463A>G
c.416A>G (p.Gln139Arg)
n.3461A>G
14g.91305787T>GCA390623120CCDC88Cc.3335A>C (p.Gln1112Pro)
c.3227A>C (p.Gln1076Pro)
n.3463A>C
c.416A>C (p.Gln139Pro)
n.3461A>C
14g.91305788G>ACA390623125CCDC88Cc.3334C>T (p.Gln1112Ter)
c.3226C>T (p.Gln1076Ter)
n.3462C>T
c.415C>T (p.Gln139Ter)
n.3460C>T
14g.91305788G>CCA390623123CCDC88Cc.3334C>G (p.Gln1112Glu)
c.3226C>G (p.Gln1076Glu)
n.3462C>G
c.415C>G (p.Gln139Glu)
n.3460C>G
14g.91305788G>TCA390623124CCDC88Cc.3334C>A (p.Gln1112Lys)
c.3226C>A (p.Gln1076Lys)
n.3462C>A
c.415C>A (p.Gln139Lys)
n.3460C>A
14g.91305789C>ACA487549032CCDC88Cc.3333G>T (p.Leu1111=)
c.3225G>T (p.Leu1075=)
n.3461G>T
c.414G>T (p.Leu138=)
n.3459G>T
14g.91305789C>GCA487549034CCDC88Cc.3333G>C (p.Leu1111=)
c.3225G>C (p.Leu1075=)
n.3461G>C
c.414G>C (p.Leu138=)
n.3459G>C
14g.91305789C>TCA487549036CCDC88Cc.3333G>A (p.Leu1111=)
c.3225G>A (p.Leu1075=)
n.3461G>A
c.414G>A (p.Leu138=)
n.3459G>A
 gnomAD v4
14g.91305790A=CA2154901297CCDC88Cc.3332T= (p.Leu1111=)
c.3224T= (p.Leu1075=)
n.3460T=
c.413T= (p.Leu138=)
n.3458T=
14g.91305790A>CCA390623126CCDC88Cc.3332T>G (p.Leu1111Arg)
c.3224T>G (p.Leu1075Arg)
n.3460T>G
c.413T>G (p.Leu138Arg)
n.3458T>G
14g.91305790A>GCA7309394CCDC88Cc.3332T>C (p.Leu1111Pro)
c.3224T>C (p.Leu1075Pro)
n.3460T>C
c.413T>C (p.Leu138Pro)
n.3458T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305790A>TCA390623127CCDC88Cc.3332T>A (p.Leu1111Gln)
c.3224T>A (p.Leu1075Gln)
n.3460T>A
c.413T>A (p.Leu138Gln)
n.3458T>A
14g.91305791G>ACA487549037CCDC88Cc.3331C>T (p.Leu1111=)
c.3223C>T (p.Leu1075=)
n.3459C>T
c.412C>T (p.Leu138=)
n.3457C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305791G>CCA390623128CCDC88Cc.3331C>G (p.Leu1111Val)
c.3223C>G (p.Leu1075Val)
n.3459C>G
c.412C>G (p.Leu138Val)
n.3457C>G
14g.91305791G=CA2154901301CCDC88Cc.3331C= (p.Leu1111=)
c.3223C= (p.Leu1075=)
n.3459C=
c.412C= (p.Leu138=)
n.3457C=
14g.91305791G>TCA390623129CCDC88Cc.3331C>A (p.Leu1111Met)
c.3223C>A (p.Leu1075Met)
n.3459C>A
c.412C>A (p.Leu138Met)
n.3457C>A
14g.91305792T>ACA487549038CCDC88Cc.3330A>T (p.Thr1110=)
c.3222A>T (p.Thr1074=)
n.3458A>T
c.411A>T (p.Thr137=)
n.3456A>T
14g.91305792T>CCA487549039CCDC88Cc.3330A>G (p.Thr1110=)
c.3222A>G (p.Thr1074=)
n.3458A>G
c.411A>G (p.Thr137=)
n.3456A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91305792T>GCA487549041CCDC88Cc.3330A>C (p.Thr1110=)
c.3222A>C (p.Thr1074=)
n.3458A>C
c.411A>C (p.Thr137=)
n.3456A>C
14g.91305792T=CA2154901308CCDC88Cc.3330A= (p.Thr1110=)
c.3222A= (p.Thr1074=)
n.3458A=
c.411A= (p.Thr137=)
n.3456A=
14g.91305793G>ACA390623130CCDC88Cc.3329C>T (p.Thr1110Ile)
c.3221C>T (p.Thr1074Ile)
n.3457C>T
c.410C>T (p.Thr137Ile)
n.3455C>T
14g.91305793G>CCA390623131CCDC88Cc.3329C>G (p.Thr1110Arg)
c.3221C>G (p.Thr1074Arg)
n.3457C>G
c.410C>G (p.Thr137Arg)
n.3455C>G
14g.91305793G>TCA390623132CCDC88Cc.3329C>A (p.Thr1110Lys)
c.3221C>A (p.Thr1074Lys)
n.3457C>A
c.410C>A (p.Thr137Lys)
n.3455C>A
14g.91305796_91305798delCA2741399897CCDC88Cc.3327_3329del (p.Thr1110del)
c.3219_3221del (p.Thr1074del)
n.3455_3457del
c.408_410del (p.Thr137del)
n.3453_3455del
14g.91305794T>ACA390623133CCDC88Cc.3328A>T (p.Thr1110Ser)
c.3220A>T (p.Thr1074Ser)
n.3456A>T
c.409A>T (p.Thr137Ser)
n.3454A>T
14g.91305794T>CCA390623134CCDC88Cc.3328A>G (p.Thr1110Ala)
c.3220A>G (p.Thr1074Ala)
n.3456A>G
c.409A>G (p.Thr137Ala)
n.3454A>G
14g.91305794T>GCA390623135CCDC88Cc.3328A>C (p.Thr1110Pro)
c.3220A>C (p.Thr1074Pro)
n.3456A>C
c.409A>C (p.Thr137Pro)
n.3454A>C
14g.91305795G>ACA487549046CCDC88Cc.3327C>T (p.Thr1109=)
c.3219C>T (p.Thr1073=)
n.3455C>T
c.408C>T (p.Thr136=)
n.3453C>T
14g.91305795G>CCA487549044CCDC88Cc.3327C>G (p.Thr1109=)
c.3219C>G (p.Thr1073=)
n.3455C>G
c.408C>G (p.Thr136=)
n.3453C>G
14g.91305795G>TCA487549043CCDC88Cc.3327C>A (p.Thr1109=)
c.3219C>A (p.Thr1073=)
n.3455C>A
c.408C>A (p.Thr136=)
n.3453C>A
14g.91305796G>ACA390623136CCDC88Cc.3326C>T (p.Thr1109Ile)
c.3218C>T (p.Thr1073Ile)
n.3454C>T
c.407C>T (p.Thr136Ile)
n.3452C>T
14g.91305796G>CCA390623138CCDC88Cc.3326C>G (p.Thr1109Ser)
c.3218C>G (p.Thr1073Ser)
n.3454C>G
c.407C>G (p.Thr136Ser)
n.3452C>G
14g.91305796G>TCA390623137CCDC88Cc.3326C>A (p.Thr1109Asn)
c.3218C>A (p.Thr1073Asn)
n.3454C>A
c.407C>A (p.Thr136Asn)
n.3452C>A
14g.91305797T>ACA390623139CCDC88Cc.3325A>T (p.Thr1109Ser)
c.3217A>T (p.Thr1073Ser)
n.3453A>T
c.406A>T (p.Thr136Ser)
n.3451A>T
14g.91305797T>CCA7309395CCDC88Cc.3325A>G (p.Thr1109Ala)
c.3217A>G (p.Thr1073Ala)
n.3453A>G
c.406A>G (p.Thr136Ala)
n.3451A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305797T>GCA390623140CCDC88Cc.3325A>C (p.Thr1109Pro)
c.3217A>C (p.Thr1073Pro)
n.3453A>C
c.406A>C (p.Thr136Pro)
n.3451A>C
14g.91305797T=CA2154901309CCDC88Cc.3325A= (p.Thr1109=)
c.3217A= (p.Thr1073=)
n.3453A=
c.406A= (p.Thr136=)
n.3451A=
14g.91305800_91305802delCA2575603294CCDC88Cc.3323_3325del (p.Asn1108del)
c.3215_3217del (p.Asn1072del)
n.3451_3453del
c.404_406del (p.Asn135del)
n.3449_3451del
 ClinVar gnomAD v4
14g.91305798G>ACA487549049CCDC88Cc.3324C>T (p.Asn1108=)
c.3216C>T (p.Asn1072=)
n.3452C>T
c.405C>T (p.Asn135=)
n.3450C>T
 gnomAD v4
14g.91305798G>CCA390623141CCDC88Cc.3324C>G (p.Asn1108Lys)
c.3216C>G (p.Asn1072Lys)
n.3452C>G
c.405C>G (p.Asn135Lys)
n.3450C>G
14g.91305798G>TCA390623142CCDC88Cc.3324C>A (p.Asn1108Lys)
c.3216C>A (p.Asn1072Lys)
n.3452C>A
c.405C>A (p.Asn135Lys)
n.3450C>A
14g.91305799T>ACA390623143CCDC88Cc.3323A>T (p.Asn1108Ile)
c.3215A>T (p.Asn1072Ile)
n.3451A>T
c.404A>T (p.Asn135Ile)
n.3449A>T
 gnomAD v4
14g.91305799T>CCA390623144CCDC88Cc.3323A>G (p.Asn1108Ser)
c.3215A>G (p.Asn1072Ser)
n.3451A>G
c.404A>G (p.Asn135Ser)
n.3449A>G
 dbSNP gnomAD v2 gnomAD v4
14g.91305799T>GCA7309396CCDC88Cc.3323A>C (p.Asn1108Thr)
c.3215A>C (p.Asn1072Thr)
n.3451A>C
c.404A>C (p.Asn135Thr)
n.3449A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305799T=CA2154901311CCDC88Cc.3323A= (p.Asn1108=)
c.3215A= (p.Asn1072=)
n.3451A=
c.404A= (p.Asn135=)
n.3449A=
14g.91305800T>ACA390623145CCDC88Cc.3322A>T (p.Asn1108Tyr)
c.3214A>T (p.Asn1072Tyr)
n.3450A>T
c.403A>T (p.Asn135Tyr)
n.3448A>T
14g.91305800T>CCA390623146CCDC88Cc.3322A>G (p.Asn1108Asp)
c.3214A>G (p.Asn1072Asp)
n.3450A>G
c.403A>G (p.Asn135Asp)
n.3448A>G
14g.91305800T>GCA390623147CCDC88Cc.3322A>C (p.Asn1108His)
c.3214A>C (p.Asn1072His)
n.3450A>C
c.403A>C (p.Asn135His)
n.3448A>C
14g.91305801G>ACA487549053CCDC88Cc.3321C>T (p.His1107=)
c.3213C>T (p.His1071=)
n.3449C>T
c.402C>T (p.His134=)
n.3447C>T
14g.91305801G>CCA390623149CCDC88Cc.3321C>G (p.His1107Gln)
c.3213C>G (p.His1071Gln)
n.3449C>G
c.402C>G (p.His134Gln)
n.3447C>G
14g.91305801G>TCA390623148CCDC88Cc.3321C>A (p.His1107Gln)
c.3213C>A (p.His1071Gln)
n.3449C>A
c.402C>A (p.His134Gln)
n.3447C>A
14g.91305802T>ACA390623150CCDC88Cc.3320A>T (p.His1107Leu)
c.3212A>T (p.His1071Leu)
n.3448A>T
c.401A>T (p.His134Leu)
n.3446A>T
14g.91305802T>CCA390623151CCDC88Cc.3320A>G (p.His1107Arg)
c.3212A>G (p.His1071Arg)
n.3448A>G
c.401A>G (p.His134Arg)
n.3446A>G
 COSMIC COSMIC
14g.91305802T>GCA390623152CCDC88Cc.3320A>C (p.His1107Pro)
c.3212A>C (p.His1071Pro)
n.3448A>C
c.401A>C (p.His134Pro)
n.3446A>C
 gnomAD v4
14g.91305804_91305824delCA2626131657CCDC88Cc.3300_3320del (p.Gln1100_Glu1106del)
c.3192_3212del (p.Gln1064_Glu1070del)
n.3428_3448del
c.381_401del (p.Gln127_Glu133del)
n.3426_3446del
 gnomAD v4
14g.91305803G>ACA390623153CCDC88Cc.3319C>T (p.His1107Tyr)
c.3211C>T (p.His1071Tyr)
n.3447C>T
c.400C>T (p.His134Tyr)
n.3445C>T
14g.91305803G>CCA390623154CCDC88Cc.3319C>G (p.His1107Asp)
c.3211C>G (p.His1071Asp)
n.3447C>G
c.400C>G (p.His134Asp)
n.3445C>G
14g.91305803G>TCA390623155CCDC88Cc.3319C>A (p.His1107Asn)
c.3211C>A (p.His1071Asn)
n.3447C>A
c.400C>A (p.His134Asn)
n.3445C>A
14g.91305804C>ACA390623156CCDC88Cc.3318G>T (p.Glu1106Asp)
c.3210G>T (p.Glu1070Asp)
n.3446G>T
c.399G>T (p.Glu133Asp)
n.3444G>T
14g.91305804C=CA2154901321CCDC88Cc.3318G= (p.Glu1106=)
c.3210G= (p.Glu1070=)
n.3446G=
c.399G= (p.Glu133=)
n.3444G=
14g.91305804C>GCA390623157CCDC88Cc.3318G>C (p.Glu1106Asp)
c.3210G>C (p.Glu1070Asp)
n.3446G>C
c.399G>C (p.Glu133Asp)
n.3444G>C
 gnomAD v4
14g.91305804C>TCA487549057CCDC88Cc.3318G>A (p.Glu1106=)
c.3210G>A (p.Glu1070=)
n.3446G>A
c.399G>A (p.Glu133=)
n.3444G>A
 ClinVar dbSNP
14g.91305805T>ACA390623158CCDC88Cc.3317A>T (p.Glu1106Val)
c.3209A>T (p.Glu1070Val)
n.3445A>T
c.398A>T (p.Glu133Val)
n.3443A>T
14g.91305805T>CCA390623159CCDC88Cc.3317A>G (p.Glu1106Gly)
c.3209A>G (p.Glu1070Gly)
n.3445A>G
c.398A>G (p.Glu133Gly)
n.3443A>G
14g.91305805T>GCA390623160CCDC88Cc.3317A>C (p.Glu1106Ala)
c.3209A>C (p.Glu1070Ala)
n.3445A>C
c.398A>C (p.Glu133Ala)
n.3443A>C
14g.91305806C>ACA390623161CCDC88Cc.3316G>T (p.Glu1106Ter)
c.3208G>T (p.Glu1070Ter)
n.3444G>T
c.397G>T (p.Glu133Ter)
n.3442G>T
14g.91305806C>GCA390623162CCDC88Cc.3316G>C (p.Glu1106Gln)
c.3208G>C (p.Glu1070Gln)
n.3444G>C
c.397G>C (p.Glu133Gln)
n.3442G>C
 gnomAD v4
14g.91305806C>TCA390623163CCDC88Cc.3316G>A (p.Glu1106Lys)
c.3208G>A (p.Glu1070Lys)
n.3444G>A
c.397G>A (p.Glu133Lys)
n.3442G>A
14g.91305807delCA2626131661CCDC88Cc.3316del (p.Glu1106SerfsTer20)
c.3208del (p.Glu1070SerfsTer20)
n.3444del
c.397del (p.Glu133SerfsTer20)
n.3442del
 gnomAD v4
14g.91305807C>ACA390623165CCDC88Cc.3315G>T (p.Gln1105His)
c.3207G>T (p.Gln1069His)
n.3443G>T
c.396G>T (p.Gln132His)
n.3441G>T
14g.91305807C>GCA390623164CCDC88Cc.3315G>C (p.Gln1105His)
c.3207G>C (p.Gln1069His)
n.3443G>C
c.396G>C (p.Gln132His)
n.3441G>C
14g.91305807C>TCA487549061CCDC88Cc.3315G>A (p.Gln1105=)
c.3207G>A (p.Gln1069=)
n.3443G>A
c.396G>A (p.Gln132=)
n.3441G>A
14g.91305808T>ACA390623166CCDC88Cc.3314A>T (p.Gln1105Leu)
c.3206A>T (p.Gln1069Leu)
n.3442A>T
c.395A>T (p.Gln132Leu)
n.3440A>T
14g.91305808T>CCA390623167CCDC88Cc.3314A>G (p.Gln1105Arg)
c.3206A>G (p.Gln1069Arg)
n.3442A>G
c.395A>G (p.Gln132Arg)
n.3440A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91305808T>GCA390623168CCDC88Cc.3314A>C (p.Gln1105Pro)
c.3206A>C (p.Gln1069Pro)
n.3442A>C
c.395A>C (p.Gln132Pro)
n.3440A>C
14g.91305808T=CA2154901327CCDC88Cc.3314A= (p.Gln1105=)
c.3206A= (p.Gln1069=)
n.3442A=
c.395A= (p.Gln132=)
n.3440A=
14g.91305809G>ACA390623169CCDC88Cc.3313C>T (p.Gln1105Ter)
c.3205C>T (p.Gln1069Ter)
n.3441C>T
c.394C>T (p.Gln132Ter)
n.3439C>T
14g.91305809G>CCA390623170CCDC88Cc.3313C>G (p.Gln1105Glu)
c.3205C>G (p.Gln1069Glu)
n.3441C>G
c.394C>G (p.Gln132Glu)
n.3439C>G
14g.91305809G>TCA390623171CCDC88Cc.3313C>A (p.Gln1105Lys)
c.3205C>A (p.Gln1069Lys)
n.3441C>A
c.394C>A (p.Gln132Lys)
n.3439C>A
14g.91305810C>ACA7309397CCDC88Cc.3312G>T (p.Leu1104=)
c.3204G>T (p.Leu1068=)
n.3440G>T
c.393G>T (p.Leu131=)
n.3438G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91305810C=CA2154901328CCDC88Cc.3312G= (p.Leu1104=)
c.3204G= (p.Leu1068=)
n.3440G=
c.393G= (p.Leu131=)
n.3438G=
14g.91305810C>GCA487549065CCDC88Cc.3312G>C (p.Leu1104=)
c.3204G>C (p.Leu1068=)
n.3440G>C
c.393G>C (p.Leu131=)
n.3438G>C
14g.91305810C>TCA487549066CCDC88Cc.3312G>A (p.Leu1104=)
c.3204G>A (p.Leu1068=)
n.3440G>A
c.393G>A (p.Leu131=)
n.3438G>A
 gnomAD v4
14g.91305811A>CCA390623172CCDC88Cc.3311T>G (p.Leu1104Arg)
c.3203T>G (p.Leu1068Arg)
n.3439T>G
c.392T>G (p.Leu131Arg)
n.3437T>G
14g.91305811A>GCA390623173CCDC88Cc.3311T>C (p.Leu1104Pro)
c.3203T>C (p.Leu1068Pro)
n.3439T>C
c.392T>C (p.Leu131Pro)
n.3437T>C
 gnomAD v4
14g.91305811A>TCA390623174CCDC88Cc.3311T>A (p.Leu1104Gln)
c.3203T>A (p.Leu1068Gln)
n.3439T>A
c.392T>A (p.Leu131Gln)
n.3437T>A
14g.91305812G>ACA487549068CCDC88Cc.3310C>T (p.Leu1104=)
c.3202C>T (p.Leu1068=)
n.3438C>T
c.391C>T (p.Leu131=)
n.3436C>T
14g.91305812G>CCA390623175CCDC88Cc.3310C>G (p.Leu1104Val)
c.3202C>G (p.Leu1068Val)
n.3438C>G
c.391C>G (p.Leu131Val)
n.3436C>G
14g.91305812G>TCA390623176CCDC88Cc.3310C>A (p.Leu1104Met)
c.3202C>A (p.Leu1068Met)
n.3438C>A
c.391C>A (p.Leu131Met)
n.3436C>A
14g.91305813G>ACA487549070CCDC88Cc.3309C>T (p.Phe1103=)
c.3201C>T (p.Phe1067=)
n.3437C>T
c.390C>T (p.Phe130=)
n.3435C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91305813G>CCA390623177CCDC88Cc.3309C>G (p.Phe1103Leu)
c.3201C>G (p.Phe1067Leu)
n.3437C>G
c.390C>G (p.Phe130Leu)
n.3435C>G
14g.91305813G=CA2154901331CCDC88Cc.3309C= (p.Phe1103=)
c.3201C= (p.Phe1067=)
n.3437C=
c.390C= (p.Phe130=)
n.3435C=
14g.91305813G>TCA390623178CCDC88Cc.3309C>A (p.Phe1103Leu)
c.3201C>A (p.Phe1067Leu)
n.3437C>A
c.390C>A (p.Phe130Leu)
n.3435C>A
14g.91305814A=CA2154901335CCDC88Cc.3308T= (p.Phe1103=)
c.3200T= (p.Phe1067=)
n.3436T=
c.389T= (p.Phe130=)
n.3434T=
14g.91305814A>CCA390623180CCDC88Cc.3308T>G (p.Phe1103Cys)
c.3200T>G (p.Phe1067Cys)
n.3436T>G
c.389T>G (p.Phe130Cys)
n.3434T>G
14g.91305814A>GCA390623181CCDC88Cc.3308T>C (p.Phe1103Ser)
c.3200T>C (p.Phe1067Ser)
n.3436T>C
c.389T>C (p.Phe130Ser)
n.3434T>C
14g.91305814A>TCA390623179CCDC88Cc.3308T>A (p.Phe1103Tyr)
c.3200T>A (p.Phe1067Tyr)
n.3436T>A
c.389T>A (p.Phe130Tyr)
n.3434T>A
14g.91305815A>CCA390623182CCDC88Cc.3307T>G (p.Phe1103Val)
c.3199T>G (p.Phe1067Val)
n.3435T>G
c.388T>G (p.Phe130Val)
n.3433T>G
14g.91305815A>GCA390623184CCDC88Cc.3307T>C (p.Phe1103Leu)
c.3199T>C (p.Phe1067Leu)
n.3435T>C
c.388T>C (p.Phe130Leu)
n.3433T>C
14g.91305815A>TCA390623183CCDC88Cc.3307T>A (p.Phe1103Ile)
c.3199T>A (p.Phe1067Ile)
n.3435T>A
c.388T>A (p.Phe130Ile)
n.3433T>A
14g.91305815_91305820dupCA7309398CCDC88Cc.3302_3307dup (p.Ala1102_Phe1103insCysAla)
c.3194_3199dup (p.Ala1066_Phe1067insCysAla)
n.3430_3435dup
c.383_388dup (p.Ala129_Phe130insCysAla)
n.3428_3433dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305816G>ACA487549074CCDC88Cc.3306C>T (p.Ala1102=)
c.3198C>T (p.Ala1066=)
n.3434C>T
c.387C>T (p.Ala129=)
n.3432C>T
 ClinVar gnomAD v4
14g.91305816G>CCA487549075CCDC88Cc.3306C>G (p.Ala1102=)
c.3198C>G (p.Ala1066=)
n.3434C>G
c.387C>G (p.Ala129=)
n.3432C>G
14g.91305816G>TCA487549076CCDC88Cc.3306C>A (p.Ala1102=)
c.3198C>A (p.Ala1066=)
n.3434C>A
c.387C>A (p.Ala129=)
n.3432C>A
14g.91305817G>ACA390623185CCDC88Cc.3305C>T (p.Ala1102Val)
c.3197C>T (p.Ala1066Val)
n.3433C>T
c.386C>T (p.Ala129Val)
n.3431C>T
 gnomAD v4
14g.91305817G>CCA390623186CCDC88Cc.3305C>G (p.Ala1102Gly)
c.3197C>G (p.Ala1066Gly)
n.3433C>G
c.386C>G (p.Ala129Gly)
n.3431C>G
14g.91305817G>TCA390623187CCDC88Cc.3305C>A (p.Ala1102Asp)
c.3197C>A (p.Ala1066Asp)
n.3433C>A
c.386C>A (p.Ala129Asp)
n.3431C>A
14g.91305818C>ACA390623188CCDC88Cc.3304G>T (p.Ala1102Ser)
c.3196G>T (p.Ala1066Ser)
n.3432G>T
c.385G>T (p.Ala129Ser)
n.3430G>T
14g.91305818C=CA2154901344CCDC88Cc.3304G= (p.Ala1102=)
c.3196G= (p.Ala1066=)
n.3432G=
c.385G= (p.Ala129=)
n.3430G=
14g.91305818C>GCA390623189CCDC88Cc.3304G>C (p.Ala1102Pro)
c.3196G>C (p.Ala1066Pro)
n.3432G>C
c.385G>C (p.Ala129Pro)
n.3430G>C
14g.91305818C>TCA390623190CCDC88Cc.3304G>A (p.Ala1102Thr)
c.3196G>A (p.Ala1066Thr)
n.3432G>A
c.385G>A (p.Ala129Thr)
n.3430G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91305819G>ACA7309399CCDC88Cc.3303C>T (p.Ser1101=)
c.3195C>T (p.Ser1065=)
n.3431C>T
c.384C>T (p.Ser128=)
n.3429C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305819G>CCA390623191CCDC88Cc.3303C>G (p.Ser1101Arg)
c.3195C>G (p.Ser1065Arg)
n.3431C>G
c.384C>G (p.Ser128Arg)
n.3429C>G
14g.91305819G=CA2154901347CCDC88Cc.3303C= (p.Ser1101=)
c.3195C= (p.Ser1065=)
n.3431C=
c.384C= (p.Ser128=)
n.3429C=
14g.91305819G>TCA390623192CCDC88Cc.3303C>A (p.Ser1101Arg)
c.3195C>A (p.Ser1065Arg)
n.3431C>A
c.384C>A (p.Ser128Arg)
n.3429C>A
14g.91305820C>ACA390623193CCDC88Cc.3302G>T (p.Ser1101Ile)
c.3194G>T (p.Ser1065Ile)
n.3430G>T
c.383G>T (p.Ser128Ile)
n.3428G>T
14g.91305820C>GCA390623194CCDC88Cc.3302G>C (p.Ser1101Thr)
c.3194G>C (p.Ser1065Thr)
n.3430G>C
c.383G>C (p.Ser128Thr)
n.3428G>C
14g.91305820C>TCA390623195CCDC88Cc.3302G>A (p.Ser1101Asn)
c.3194G>A (p.Ser1065Asn)
n.3430G>A
c.383G>A (p.Ser128Asn)
n.3428G>A
 ClinVar
14g.91305822_91305823delCA2580613740CCDC88Cc.3301_3302del (p.Ser1101ArgfsTer?)
c.3193_3194del (p.Ser1065ArgfsTer?)
n.3429_3430del
c.382_383del (p.Ser128ArgfsTer?)
n.3427_3428del
 ClinVar
14g.91305821T>ACA390623198CCDC88Cc.3301A>T (p.Ser1101Cys)
c.3193A>T (p.Ser1065Cys)
n.3429A>T
c.382A>T (p.Ser128Cys)
n.3427A>T
14g.91305821T>CCA390623196CCDC88Cc.3301A>G (p.Ser1101Gly)
c.3193A>G (p.Ser1065Gly)
n.3429A>G
c.382A>G (p.Ser128Gly)
n.3427A>G
14g.91305821T>GCA390623197CCDC88Cc.3301A>C (p.Ser1101Arg)
c.3193A>C (p.Ser1065Arg)
n.3429A>C
c.382A>C (p.Ser128Arg)
n.3427A>C
14g.91305822C>ACA390623199CCDC88Cc.3300G>T (p.Gln1100His)
c.3192G>T (p.Gln1064His)
n.3428G>T
c.381G>T (p.Gln127His)
n.3426G>T
14g.91305822C>GCA390623200CCDC88Cc.3300G>C (p.Gln1100His)
c.3192G>C (p.Gln1064His)
n.3428G>C
c.381G>C (p.Gln127His)
n.3426G>C
14g.91305822C>TCA487549081CCDC88Cc.3300G>A (p.Gln1100=)
c.3192G>A (p.Gln1064=)
n.3428G>A
c.381G>A (p.Gln127=)
n.3426G>A
14g.91305823T>ACA390623201CCDC88Cc.3299A>T (p.Gln1100Leu)
c.3191A>T (p.Gln1064Leu)
n.3427A>T
c.380A>T (p.Gln127Leu)
n.3425A>T
14g.91305823T>CCA390623202CCDC88Cc.3299A>G (p.Gln1100Arg)
c.3191A>G (p.Gln1064Arg)
n.3427A>G
c.380A>G (p.Gln127Arg)
n.3425A>G
14g.91305823T>GCA390623203CCDC88Cc.3299A>C (p.Gln1100Pro)
c.3191A>C (p.Gln1064Pro)
n.3427A>C
c.380A>C (p.Gln127Pro)
n.3425A>C
14g.91305824G>ACA390623204CCDC88Cc.3298C>T (p.Gln1100Ter)
c.3190C>T (p.Gln1064Ter)
n.3426C>T
c.379C>T (p.Gln127Ter)
n.3424C>T
 gnomAD v4
14g.91305824G>CCA390623205CCDC88Cc.3298C>G (p.Gln1100Glu)
c.3190C>G (p.Gln1064Glu)
n.3426C>G
c.379C>G (p.Gln127Glu)
n.3424C>G
14g.91305824G>TCA390623206CCDC88Cc.3298C>A (p.Gln1100Lys)
c.3190C>A (p.Gln1064Lys)
n.3426C>A
c.379C>A (p.Gln127Lys)
n.3424C>A
14g.91305825T>ACA390623207CCDC88Cc.3297A>T (p.Lys1099Asn)
c.3189A>T (p.Lys1063Asn)
n.3425A>T
c.378A>T (p.Lys126Asn)
n.3423A>T
14g.91305825T>CCA487549082CCDC88Cc.3297A>G (p.Lys1099=)
c.3189A>G (p.Lys1063=)
n.3425A>G
c.378A>G (p.Lys126=)
n.3423A>G
 ClinVar gnomAD v4
14g.91305825T>GCA390623208CCDC88Cc.3297A>C (p.Lys1099Asn)
c.3189A>C (p.Lys1063Asn)
n.3425A>C
c.378A>C (p.Lys126Asn)
n.3423A>C
 gnomAD v4
14g.91305826T>ACA390623211CCDC88Cc.3296A>T (p.Lys1099Ile)
c.3188A>T (p.Lys1063Ile)
n.3424A>T
c.377A>T (p.Lys126Ile)
n.3422A>T
14g.91305826T>CCA390623210CCDC88Cc.3296A>G (p.Lys1099Arg)
c.3188A>G (p.Lys1063Arg)
n.3424A>G
c.377A>G (p.Lys126Arg)
n.3422A>G
14g.91305826T>GCA390623209CCDC88Cc.3296A>C (p.Lys1099Thr)
c.3188A>C (p.Lys1063Thr)
n.3424A>C
c.377A>C (p.Lys126Thr)
n.3422A>C
14g.91305827T>ACA390623212CCDC88Cc.3295A>T (p.Lys1099Ter)
c.3187A>T (p.Lys1063Ter)
n.3423A>T
c.376A>T (p.Lys126Ter)
n.3421A>T
14g.91305827T>CCA390623213CCDC88Cc.3295A>G (p.Lys1099Glu)
c.3187A>G (p.Lys1063Glu)
n.3423A>G
c.376A>G (p.Lys126Glu)
n.3421A>G
14g.91305827T>GCA390623214CCDC88Cc.3295A>C (p.Lys1099Gln)
c.3187A>C (p.Lys1063Gln)
n.3423A>C
c.376A>C (p.Lys126Gln)
n.3421A>C
14g.91305828C>ACA390623215CCDC88Cc.3294G>T (p.Gln1098His)
c.3186G>T (p.Gln1062His)
n.3422G>T
c.375G>T (p.Gln125His)
n.3420G>T
14g.91305828C>GCA390623216CCDC88Cc.3294G>C (p.Gln1098His)
c.3186G>C (p.Gln1062His)
n.3422G>C
c.375G>C (p.Gln125His)
n.3420G>C
14g.91305828C>TCA487549084CCDC88Cc.3294G>A (p.Gln1098=)
c.3186G>A (p.Gln1062=)
n.3422G>A
c.375G>A (p.Gln125=)
n.3420G>A
14g.91305829T>ACA390623217CCDC88Cc.3293A>T (p.Gln1098Leu)
c.3185A>T (p.Gln1062Leu)
n.3421A>T
c.374A>T (p.Gln125Leu)
n.3419A>T
14g.91305829T>CCA390623218CCDC88Cc.3293A>G (p.Gln1098Arg)
c.3185A>G (p.Gln1062Arg)
n.3421A>G
c.374A>G (p.Gln125Arg)
n.3419A>G
14g.91305829T>GCA390623220CCDC88Cc.3293A>C (p.Gln1098Pro)
c.3185A>C (p.Gln1062Pro)
n.3421A>C
c.374A>C (p.Gln125Pro)
n.3419A>C
14g.91305830G>ACA390623222CCDC88Cc.3292C>T (p.Gln1098Ter)
c.3184C>T (p.Gln1062Ter)
n.3420C>T
c.373C>T (p.Gln125Ter)
n.3418C>T
14g.91305830G>CCA390623224CCDC88Cc.3292C>G (p.Gln1098Glu)
c.3184C>G (p.Gln1062Glu)
n.3420C>G
c.373C>G (p.Gln125Glu)
n.3418C>G
14g.91305830G>TCA390623225CCDC88Cc.3292C>A (p.Gln1098Lys)
c.3184C>A (p.Gln1062Lys)
n.3420C>A
c.373C>A (p.Gln125Lys)
n.3418C>A
14g.91305831C>ACA487549086CCDC88Cc.3291G>T (p.Leu1097=)
c.3183G>T (p.Leu1061=)
n.3419G>T
c.372G>T (p.Leu124=)
n.3417G>T
14g.91305831C>GCA487549087CCDC88Cc.3291G>C (p.Leu1097=)
c.3183G>C (p.Leu1061=)
n.3419G>C
c.372G>C (p.Leu124=)
n.3417G>C
14g.91305831C>TCA487549088CCDC88Cc.3291G>A (p.Leu1097=)
c.3183G>A (p.Leu1061=)
n.3419G>A
c.372G>A (p.Leu124=)
n.3417G>A
14g.91305832A>CCA390623227CCDC88Cc.3290T>G (p.Leu1097Arg)
c.3182T>G (p.Leu1061Arg)
n.3418T>G
c.371T>G (p.Leu124Arg)
n.3416T>G
14g.91305832A>GCA390623229CCDC88Cc.3290T>C (p.Leu1097Pro)
c.3182T>C (p.Leu1061Pro)
n.3418T>C
c.371T>C (p.Leu124Pro)
n.3416T>C
 ClinVar
14g.91305832A>TCA390623231CCDC88Cc.3290T>A (p.Leu1097Gln)
c.3182T>A (p.Leu1061Gln)
n.3418T>A
c.371T>A (p.Leu124Gln)
n.3416T>A
14g.91305833G>ACA487549090CCDC88Cc.3289C>T (p.Leu1097=)
c.3181C>T (p.Leu1061=)
n.3417C>T
c.370C>T (p.Leu124=)
n.3415C>T
14g.91305833G>CCA390623232CCDC88Cc.3289C>G (p.Leu1097Val)
c.3181C>G (p.Leu1061Val)
n.3417C>G
c.370C>G (p.Leu124Val)
n.3415C>G
14g.91305833G=CA2154901348CCDC88Cc.3289C= (p.Leu1097=)
c.3181C= (p.Leu1061=)
n.3417C=
c.370C= (p.Leu124=)
n.3415C=
14g.91305833G>TCA390623233CCDC88Cc.3289C>A (p.Leu1097Met)
c.3181C>A (p.Leu1061Met)
n.3417C>A
c.370C>A (p.Leu124Met)
n.3415C>A
 dbSNP
14g.91305834T>ACA487549092CCDC88Cc.3288A>T (p.Thr1096=)
c.3180A>T (p.Thr1060=)
n.3416A>T
c.369A>T (p.Thr123=)
n.3414A>T
14g.91305834T>CCA7309400CCDC88Cc.3288A>G (p.Thr1096=)
c.3180A>G (p.Thr1060=)
n.3416A>G
c.369A>G (p.Thr123=)
n.3414A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91305834T>GCA487549094CCDC88Cc.3288A>C (p.Thr1096=)
c.3180A>C (p.Thr1060=)
n.3416A>C
c.369A>C (p.Thr123=)
n.3414A>C
14g.91305834T=CA2154901352CCDC88Cc.3288A= (p.Thr1096=)
c.3180A= (p.Thr1060=)
n.3416A=
c.369A= (p.Thr123=)
n.3414A=
14g.91305834dupCA616112426CCDC88Cc.3288dup (p.Leu1097ThrfsTer?)
c.3180dup (p.Leu1061ThrfsTer?)
n.3416dup
c.369dup (p.Leu124ThrfsTer?)
n.3414dup
 dbSNP gnomAD v2 gnomAD v4
14g.91305835G>ACA390623238CCDC88Cc.3287C>T (p.Thr1096Ile)
c.3179C>T (p.Thr1060Ile)
n.3415C>T
c.368C>T (p.Thr123Ile)
n.3413C>T
14g.91305835G>CCA390623239CCDC88Cc.3287C>G (p.Thr1096Arg)
c.3179C>G (p.Thr1060Arg)
n.3415C>G
c.368C>G (p.Thr123Arg)
n.3413C>G
14g.91305835G>TCA390623241CCDC88Cc.3287C>A (p.Thr1096Lys)
c.3179C>A (p.Thr1060Lys)
n.3415C>A
c.368C>A (p.Thr123Lys)
n.3413C>A

Number of alleles fetched