Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80170859C>ACA377368836ANXA11c.112G>T (p.Gly38Trp)
c.13G>T (p.Gly5Trp)
c.412G>T (p.Gly138Trp)
gnomAD v4
10g.80170859C=CA1922528100ANXA11c.112G= (p.Gly38=)
c.13G= (p.Gly5=)
c.412G= (p.Gly138=)
10g.80170859C>GCA377368837ANXA11c.112G>C (p.Gly38Arg)
c.13G>C (p.Gly5Arg)
c.412G>C (p.Gly138Arg)
10g.80170859C>TCA5576379ANXA11c.112G>A (p.Gly38Arg)
c.13G>A (p.Gly5Arg)
c.412G>A (p.Gly138Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170860G>ACA5576380ANXA11c.111C>T (p.Ile37=)
c.12C>T (p.Ile4=)
c.411C>T (p.Ile137=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170860G>CCA377368838ANXA11c.111C>G (p.Ile37Met)
c.12C>G (p.Ile4Met)
c.411C>G (p.Ile137Met)
10g.80170860G=CA1922528101ANXA11c.111C= (p.Ile37=)
c.12C= (p.Ile4=)
c.411C= (p.Ile137=)
10g.80170860G>TCA470459071ANXA11c.111C>A (p.Ile37=)
c.12C>A (p.Ile4=)
c.411C>A (p.Ile137=)
gnomAD v4
10g.80170861A>CCA377368839ANXA11c.110T>G (p.Ile37Ser)
c.11T>G (p.Ile4Ser)
c.410T>G (p.Ile137Ser)
10g.80170861A>GCA377368840ANXA11c.110T>C (p.Ile37Thr)
c.11T>C (p.Ile4Thr)
c.410T>C (p.Ile137Thr)
10g.80170861A>TCA377368841ANXA11c.110T>A (p.Ile37Asn)
c.11T>A (p.Ile4Asn)
c.410T>A (p.Ile137Asn)
10g.80170861_80170862insCCA2523388858ANXA11c.109_110insG (p.Ile37SerfsTer5)
c.10_11insG (p.Ile4SerfsTer5)
c.409_410insG (p.Ile137SerfsTer5)
10g.80170862T>ACA377368842ANXA11c.109A>T (p.Ile37Phe)
c.10A>T (p.Ile4Phe)
c.409A>T (p.Ile137Phe)
gnomAD v4
10g.80170862T>CCA377368843ANXA11c.109A>G (p.Ile37Val)
c.10A>G (p.Ile4Val)
c.409A>G (p.Ile137Val)
gnomAD v4
10g.80170862T>GCA377368844ANXA11c.109A>C (p.Ile37Leu)
c.10A>C (p.Ile4Leu)
c.409A>C (p.Ile137Leu)
gnomAD v4
10g.80170862_80170863delinsTGCA1922528102ANXA11c.108_109delinsCA (p.Pro36=)
c.9_10delinsCA (p.Pro3=)
c.408_409delinsCA (p.Pro136=)
10g.80170863G>ACA5576382ANXA11c.108C>T (p.Pro36=)
c.9C>T (p.Pro3=)
c.408C>T (p.Pro136=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170863G>CCA470459083ANXA11c.108C>G (p.Pro36=)
c.9C>G (p.Pro3=)
c.408C>G (p.Pro136=)
10g.80170863G=CA1922528103ANXA11c.108C= (p.Pro36=)
c.9C= (p.Pro3=)
c.408C= (p.Pro136=)
10g.80170863G>TCA470459085ANXA11c.108C>A (p.Pro36=)
c.9C>A (p.Pro3=)
c.408C>A (p.Pro136=)
gnomAD v4
10g.80170868dupCA5576381ANXA11c.108dup (p.Ile37HisfsTer5)
c.9dup (p.Ile4HisfsTer5)
c.408dup (p.Ile137HisfsTer5)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170868delCA668857016ANXA11c.108del (p.Ile37SerfsTer?)
c.9del (p.Ile4SerfsTer?)
c.408del (p.Ile137SerfsTer?)
dbSNP gnomAD v3 gnomAD v4
10g.80170864G>ACA377368845ANXA11c.107C>T (p.Pro36Leu)
c.8C>T (p.Pro3Leu)
c.407C>T (p.Pro136Leu)
dbSNP gnomAD v2 gnomAD v4
10g.80170864G>CCA5576384ANXA11c.107C>G (p.Pro36Arg)
c.8C>G (p.Pro3Arg)
c.407C>G (p.Pro136Arg)
dbSNP ExAC gnomAD v2
10g.80170864G=CA1922528104ANXA11c.107C= (p.Pro36=)
c.8C= (p.Pro3=)
c.407C= (p.Pro136=)
10g.80170864G>TCA5576383ANXA11c.107C>A (p.Pro36His)
c.8C>A (p.Pro3His)
c.407C>A (p.Pro136His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170865G>ACA210334099ANXA11c.106C>T (p.Pro36Ser)
c.7C>T (p.Pro3Ser)
c.406C>T (p.Pro136Ser)
dbSNP gnomAD v4
10g.80170865G>CCA377368846ANXA11c.106C>G (p.Pro36Ala)
c.7C>G (p.Pro3Ala)
c.406C>G (p.Pro136Ala)
10g.80170865G=CA1922528105ANXA11c.106C= (p.Pro36=)
c.7C= (p.Pro3=)
c.406C= (p.Pro136=)
10g.80170865G>TCA5576385ANXA11c.106C>A (p.Pro36Thr)
c.7C>A (p.Pro3Thr)
c.406C>A (p.Pro136Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170866G>ACA470459094ANXA11c.105C>T (p.Pro35=)
c.6C>T (p.Pro2=)
c.405C>T (p.Pro135=)
dbSNP gnomAD v2 gnomAD v4
10g.80170866G>CCA470459096ANXA11c.105C>G (p.Pro35=)
c.6C>G (p.Pro2=)
c.405C>G (p.Pro135=)
10g.80170866G=CA1922528106ANXA11c.105C= (p.Pro35=)
c.6C= (p.Pro2=)
c.405C= (p.Pro135=)
10g.80170866G>TCA470459098ANXA11c.105C>A (p.Pro35=)
c.6C>A (p.Pro2=)
c.405C>A (p.Pro135=)
gnomAD v4
10g.80170867G>ACA377368847ANXA11c.104C>T (p.Pro35Leu)
c.5C>T (p.Pro2Leu)
c.404C>T (p.Pro135Leu)
gnomAD v4
10g.80170867G>CCA377368849ANXA11c.104C>G (p.Pro35Arg)
c.5C>G (p.Pro2Arg)
c.404C>G (p.Pro135Arg)
10g.80170867G>TCA377368848ANXA11c.104C>A (p.Pro35His)
c.5C>A (p.Pro2His)
c.404C>A (p.Pro135His)
10g.80170868G>ACA5576387ANXA11c.103C>T (p.Pro35Ser)
c.4C>T (p.Pro2Ser)
c.403C>T (p.Pro135Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170868G>CCA5576386ANXA11c.103C>G (p.Pro35Ala)
c.4C>G (p.Pro2Ala)
c.403C>G (p.Pro135Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170868G=CA1922528107ANXA11c.103C= (p.Pro35=)
c.4C= (p.Pro2=)
c.403C= (p.Pro135=)
10g.80170868G>TCA377368850ANXA11c.103C>A (p.Pro35Thr)
c.4C>A (p.Pro2Thr)
c.403C>A (p.Pro135Thr)
gnomAD v4
10g.80170869C>ACA377368851ANXA11c.102G>T (p.Met34Ile)
c.3G>T (p.Met1Ile)
c.402G>T (p.Met134Ile)
gnomAD v4
10g.80170869C=CA1922528108ANXA11c.102G= (p.Met34=)
c.3G= (p.Met1=)
c.402G= (p.Met134=)
10g.80170869C>GCA377368852ANXA11c.102G>C (p.Met34Ile)
c.3G>C (p.Met1Ile)
c.402G>C (p.Met134Ile)
10g.80170869C>TCA5576388ANXA11c.102G>A (p.Met34Ile)
c.3G>A (p.Met1Ile)
c.402G>A (p.Met134Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170870A>CCA377368853ANXA11c.101T>G (p.Met34Arg)
c.2T>G (p.Met1Arg)
c.401T>G (p.Met134Arg)
10g.80170870A>GCA377368854ANXA11c.101T>C (p.Met34Thr)
c.2T>C (p.Met1Thr)
c.401T>C (p.Met134Thr)
10g.80170870A>TCA377368855ANXA11c.101T>A (p.Met34Lys)
c.2T>A (p.Met1Lys)
c.401T>A (p.Met134Lys)
10g.80170871T>ACA377368856ANXA11c.100A>T (p.Met34Leu)
c.1A>T (p.Met1Leu)
c.400A>T (p.Met134Leu)
10g.80170871T>CCA5576390ANXA11c.100A>G (p.Met34Val)
c.1A>G (p.Met1Val)
c.400A>G (p.Met134Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170871T>GCA5576389ANXA11c.100A>C (p.Met34Leu)
c.1A>C (p.Met1Leu)
c.400A>C (p.Met134Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170871T=CA1922528109ANXA11c.100A= (p.Met34=)
c.1A= (p.Met1=)
c.400A= (p.Met134=)
10g.80170872G>ACA5576391ANXA11c.99C>T (p.Ser33=)
c.-1C>T (n.-1C>T)
c.399C>T (p.Ser133=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170872G>CCA377368857ANXA11c.99C>G (p.Ser33Arg)
c.-1C>G (n.-1C>G)
c.399C>G (p.Ser133Arg)
10g.80170872G=CA1922528110ANXA11c.99C= (p.Ser33=)
c.-1C= (n.-1C=)
c.399C= (p.Ser133=)
10g.80170872G>TCA377368858ANXA11c.99C>A (p.Ser33Arg)
c.-1C>A (n.-1C>A)
c.399C>A (p.Ser133Arg)
gnomAD v4
10g.80170873C>ACA377368859ANXA11c.98G>T (p.Ser33Ile)
c.-2G>T (n.-2G>T)
c.398G>T (p.Ser133Ile)
gnomAD v4
10g.80170873C>GCA377368860ANXA11c.98G>C (p.Ser33Thr)
c.-2G>C (n.-2G>C)
c.398G>C (p.Ser133Thr)
gnomAD v4
10g.80170873C>TCA377368861ANXA11c.98G>A (p.Ser33Asn)
c.-2G>A (n.-2G>A)
c.398G>A (p.Ser133Asn)
gnomAD v4
10g.80170874T>ACA377368862ANXA11c.97A>T (p.Ser33Cys)
c.-3A>T (n.-3A>T)
c.397A>T (p.Ser133Cys)
10g.80170874T>CCA377368863ANXA11c.97A>G (p.Ser33Gly)
c.-3A>G (n.-3A>G)
c.397A>G (p.Ser133Gly)
10g.80170874T>GCA377368864ANXA11c.97A>C (p.Ser33Arg)
c.-3A>C (n.-3A>C)
c.397A>C (p.Ser133Arg)
10g.80170875G>ACA470459124ANXA11c.96C>T (p.Pro32=)
c.-4C>T (n.-4C>T)
c.396C>T (p.Pro132=)
gnomAD v4
10g.80170875G>CCA470459127ANXA11c.96C>G (p.Pro32=)
c.-4C>G (n.-4C>G)
c.396C>G (p.Pro132=)
10g.80170875G>TCA470459125ANXA11c.96C>A (p.Pro32=)
c.-4C>A (n.-4C>A)
c.396C>A (p.Pro132=)
10g.80170877delCA2609899814ANXA11c.96del (p.Ser33AlafsTer?)
c.-4del (n.-4del)
c.396del (p.Ser133AlafsTer?)
gnomAD v4
10g.80170875_80170878delinsGGGCCA1922528111ANXA11c.93_96delinsGCCC (p.Pro31=)
c.-7_-4delinsGCCC (n.-7_-4delinsGCCC)
c.393_396delinsGCCC (p.Pro131=)
10g.80170876G>ACA377368865ANXA11c.95C>T (p.Pro32Leu)
c.-5C>T (n.-5C>T)
c.395C>T (p.Pro132Leu)
dbSNP gnomAD v2 gnomAD v4
10g.80170876G>CCA377368866ANXA11c.95C>G (p.Pro32Arg)
c.-5C>G (n.-5C>G)
c.395C>G (p.Pro132Arg)
10g.80170876G=CA1922528113ANXA11c.95C= (p.Pro32=)
c.-5C= (n.-5C=)
c.395C= (p.Pro132=)
10g.80170876G>TCA377368867ANXA11c.95C>A (p.Pro32His)
c.-5C>A (n.-5C>A)
c.395C>A (p.Pro132His)
gnomAD v4
10g.80170878_80170880delCA1922528112ANXA11c.93_95del (p.Pro32del)
c.-7_-5del (n.-7_-5del)
c.393_395del (p.Pro132del)
dbSNP
10g.80170877G>ACA377368868ANXA11c.94C>T (p.Pro32Ser)
c.-6C>T (n.-6C>T)
c.394C>T (p.Pro132Ser)
gnomAD v4
10g.80170877G>CCA377368869ANXA11c.94C>G (p.Pro32Ala)
c.-6C>G (n.-6C>G)
c.394C>G (p.Pro132Ala)
10g.80170877G=CA1922528114ANXA11c.94C= (p.Pro32=)
c.-6C= (n.-6C=)
c.394C= (p.Pro132=)
10g.80170877G>TCA5576392ANXA11c.94C>A (p.Pro32Thr)
c.-6C>A (n.-6C>A)
c.394C>A (p.Pro132Thr)
dbSNP ExAC gnomAD v2
10g.80170878delCA2609899820ANXA11c.93del (p.Ser33AlafsTer?)
c.-7del (n.-7del)
c.393del (p.Ser133AlafsTer?)
gnomAD v4
10g.80170878C>ACA470459136ANXA11c.93G>T (p.Pro31=)
c.-7G>T (n.-7G>T)
c.393G>T (p.Pro131=)
dbSNP gnomAD v2 gnomAD v4
10g.80170878C=CA1922528115ANXA11c.93G= (p.Pro31=)
c.-7G= (n.-7G=)
c.393G= (p.Pro131=)
10g.80170878C>GCA470459137ANXA11c.93G>C (p.Pro31=)
c.-7G>C (n.-7G>C)
c.393G>C (p.Pro131=)
10g.80170878C>TCA5576393ANXA11c.93G>A (p.Pro31=)
c.-7G>A (n.-7G>A)
c.393G>A (p.Pro131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80170879G>ACA5576395ANXA11c.92C>T (p.Pro31Leu)
c.-8C>T (n.-8C>T)
c.392C>T (p.Pro131Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170879G>CCA5576394ANXA11c.92C>G (p.Pro31Arg)
c.-8C>G (n.-8C>G)
c.392C>G (p.Pro131Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170879G=CA1922528116ANXA11c.92C= (p.Pro31=)
c.-8C= (n.-8C=)
c.392C= (p.Pro131=)
10g.80170879G>TCA377368870ANXA11c.92C>A (p.Pro31Gln)
c.-8C>A (n.-8C>A)
c.392C>A (p.Pro131Gln)
gnomAD v4
10g.80170880G>ACA377368871ANXA11c.91C>T (p.Pro31Ser)
c.-9C>T (n.-9C>T)
c.391C>T (p.Pro131Ser)
dbSNP gnomAD v3 gnomAD v4
10g.80170880G>CCA377368873ANXA11c.91C>G (p.Pro31Ala)
c.-9C>G (n.-9C>G)
c.391C>G (p.Pro131Ala)
10g.80170880G=CA1922528117ANXA11c.91C= (p.Pro31=)
c.-9C= (n.-9C=)
c.391C= (p.Pro131=)
10g.80170880G>TCA377368872ANXA11c.91C>A (p.Pro31Thr)
c.-9C>A (n.-9C>A)
c.391C>A (p.Pro131Thr)
gnomAD v4
10g.80170881A=CA1922528118ANXA11c.90T= (p.Pro30=)
c.-10T= (n.-10T=)
c.390T= (p.Pro130=)
10g.80170881A>CCA5576396ANXA11c.90T>G (p.Pro30=)
c.-10T>G (n.-10T>G)
c.390T>G (p.Pro130=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170881A>GCA470459148ANXA11c.90T>C (p.Pro30=)
c.-10T>C (n.-10T>C)
c.390T>C (p.Pro130=)
dbSNP gnomAD v2 gnomAD v4
10g.80170881A>TCA470459150ANXA11c.90T>A (p.Pro30=)
c.-10T>A (n.-10T>A)
c.390T>A (p.Pro130=)
10g.80170882G>ACA377368875ANXA11c.89C>T (p.Pro30Leu)
c.-11C>T (n.-11C>T)
c.389C>T (p.Pro130Leu)
gnomAD v4
10g.80170882G>CCA5576397ANXA11c.89C>G (p.Pro30Arg)
c.-11C>G (n.-11C>G)
c.389C>G (p.Pro130Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170882G=CA1922528119ANXA11c.89C= (p.Pro30=)
c.-11C= (n.-11C=)
c.389C= (p.Pro130=)
10g.80170882G>TCA377368874ANXA11c.89C>A (p.Pro30His)
c.-11C>A (n.-11C>A)
c.389C>A (p.Pro130His)
10g.80170883G>ACA377368876ANXA11c.88C>T (p.Pro30Ser)
c.-12C>T (n.-12C>T)
c.388C>T (p.Pro130Ser)
gnomAD v4
10g.80170883G>CCA377368877ANXA11c.88C>G (p.Pro30Ala)
c.-12C>G (n.-12C>G)
c.388C>G (p.Pro130Ala)
10g.80170883G>TCA377368878ANXA11c.88C>A (p.Pro30Thr)
c.-12C>A (n.-12C>A)
c.388C>A (p.Pro130Thr)
10g.80170884A>CCA470459158ANXA11c.87T>G (p.Pro29=)
c.-13T>G (n.-13T>G)
c.387T>G (p.Pro129=)
10g.80170884A>GCA470459160ANXA11c.87T>C (p.Pro29=)
c.-13T>C (n.-13T>C)
c.387T>C (p.Pro129=)
gnomAD v4
10g.80170884A>TCA470459162ANXA11c.87T>A (p.Pro29=)
c.-13T>A (n.-13T>A)
c.387T>A (p.Pro129=)
10g.80170885G>ACA377368879ANXA11c.86C>T (p.Pro29Leu)
c.-14C>T (n.-14C>T)
c.386C>T (p.Pro129Leu)
10g.80170885G>CCA5576398ANXA11c.86C>G (p.Pro29Arg)
c.-14C>G (n.-14C>G)
c.386C>G (p.Pro129Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170885G=CA1922528120ANXA11c.86C= (p.Pro29=)
c.-14C= (n.-14C=)
c.386C= (p.Pro129=)
10g.80170885G>TCA377368880ANXA11c.86C>A (p.Pro29His)
c.-14C>A (n.-14C>A)
c.386C>A (p.Pro129His)
gnomAD v4
10g.80170886G>ACA377368881ANXA11c.85C>T (p.Pro29Ser)
c.-15C>T (n.-15C>T)
c.385C>T (p.Pro129Ser)
gnomAD v4
10g.80170886G>CCA377368882ANXA11c.85C>G (p.Pro29Ala)
c.-15C>G (n.-15C>G)
c.385C>G (p.Pro129Ala)
10g.80170886G>TCA377368883ANXA11c.85C>A (p.Pro29Thr)
c.-15C>A (n.-15C>A)
c.385C>A (p.Pro129Thr)
gnomAD v4
10g.80170887G>ACA470459172ANXA11c.84C>T (p.Tyr28=)
c.-16C>T (n.-16C>T)
c.384C>T (p.Tyr128=)
gnomAD v4
10g.80170887G>CCA377368884ANXA11c.84C>G (p.Tyr28Ter)
c.-16C>G (n.-16C>G)
c.384C>G (p.Tyr128Ter)
10g.80170887G>TCA377368885ANXA11c.84C>A (p.Tyr28Ter)
c.-16C>A (n.-16C>A)
c.384C>A (p.Tyr128Ter)
gnomAD v4
10g.80170888T>ACA377368886ANXA11c.83A>T (p.Tyr28Phe)
c.-17A>T (n.-17A>T)
c.383A>T (p.Tyr128Phe)
10g.80170888T>CCA377368888ANXA11c.83A>G (p.Tyr28Cys)
c.-17A>G (n.-17A>G)
c.383A>G (p.Tyr128Cys)
gnomAD v4
10g.80170888T>GCA377368887ANXA11c.83A>C (p.Tyr28Ser)
c.-17A>C (n.-17A>C)
c.383A>C (p.Tyr128Ser)
gnomAD v4
10g.80170889A>CCA377368889ANXA11c.82T>G (p.Tyr28Asp)
c.-18T>G (n.-18T>G)
c.382T>G (p.Tyr128Asp)
10g.80170889A>GCA377368890ANXA11c.82T>C (p.Tyr28His)
c.-18T>C (n.-18T>C)
c.382T>C (p.Tyr128His)
gnomAD v4
10g.80170889A>TCA377368891ANXA11c.82T>A (p.Tyr28Asn)
c.-18T>A (n.-18T>A)
c.382T>A (p.Tyr128Asn)
10g.80170890G>ACA470459182ANXA11c.81C>T (p.Ala27=)
c.-19C>T (n.-19C>T)
c.381C>T (p.Ala127=)
gnomAD v4
10g.80170890G>CCA470459184ANXA11c.81C>G (p.Ala27=)
c.-19C>G (n.-19C>G)
c.381C>G (p.Ala127=)
10g.80170890G>TCA470459186ANXA11c.81C>A (p.Ala27=)
c.-19C>A (n.-19C>A)
c.381C>A (p.Ala127=)
gnomAD v4
10g.80170891dupCA2609899823ANXA11c.81dup (p.Tyr28LeufsTer14)
c.-19dup (n.-19dup)
c.381dup (p.Tyr128LeufsTer14)
gnomAD v4
10g.80170891delCA2609899824ANXA11c.81del (p.Tyr28ThrfsTer?)
c.-19del (n.-19del)
c.381del (p.Tyr128ThrfsTer?)
gnomAD v4
10g.80170891G>ACA377368892ANXA11c.80C>T (p.Ala27Val)
c.-20C>T (n.-20C>T)
c.380C>T (p.Ala127Val)
10g.80170891G>CCA377368893ANXA11c.80C>G (p.Ala27Gly)
c.-20C>G (n.-20C>G)
c.380C>G (p.Ala127Gly)
dbSNP
10g.80170891G>TCA377368894ANXA11c.80C>A (p.Ala27Asp)
c.-20C>A (n.-20C>A)
c.380C>A (p.Ala127Asp)
10g.80170892C>ACA377368895ANXA11c.79G>T (p.Ala27Ser)
c.-21G>T (n.-21G>T)
c.379G>T (p.Ala127Ser)
dbSNP
10g.80170892C=CA1922528121ANXA11c.79G= (p.Ala27=)
c.-21G= (n.-21G=)
c.379G= (p.Ala127=)
10g.80170892C>GCA5576400ANXA11c.79G>C (p.Ala27Pro)
c.-21G>C (n.-21G>C)
c.379G>C (p.Ala127Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170892C>TCA5576399ANXA11c.79G>A (p.Ala27Thr)
c.-21G>A (n.-21G>A)
c.379G>A (p.Ala127Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170893A>CCA470459196ANXA11c.78T>G (p.Ala26=)
c.-22T>G (n.-22T>G)
c.378T>G (p.Ala126=)
10g.80170893A>GCA470459198ANXA11c.78T>C (p.Ala26=)
c.-22T>C (n.-22T>C)
c.378T>C (p.Ala126=)
gnomAD v4
10g.80170893A>TCA470459199ANXA11c.78T>A (p.Ala26=)
c.-22T>A (n.-22T>A)
c.378T>A (p.Ala126=)
10g.80170894G>ACA377368898ANXA11c.77C>T (p.Ala26Val)
c.-23C>T (n.-23C>T)
c.377C>T (p.Ala126Val)
gnomAD v4
10g.80170894G>CCA377368897ANXA11c.77C>G (p.Ala26Gly)
c.-23C>G (n.-23C>G)
c.377C>G (p.Ala126Gly)
10g.80170894G>TCA377368896ANXA11c.77C>A (p.Ala26Asp)
c.-23C>A (n.-23C>A)
c.377C>A (p.Ala126Asp)
10g.80170895C>ACA377368899ANXA11c.76G>T (p.Ala26Ser)
c.-24G>T (n.-24G>T)
c.376G>T (p.Ala126Ser)
gnomAD v4
10g.80170895C>GCA377368900ANXA11c.76G>C (p.Ala26Pro)
c.-24G>C (n.-24G>C)
c.376G>C (p.Ala126Pro)
10g.80170895C>TCA377368901ANXA11c.76G>A (p.Ala26Thr)
c.-24G>A (n.-24G>A)
c.376G>A (p.Ala126Thr)
gnomAD v4
10g.80170896A>CCA470459206ANXA11c.75T>G (p.Gly25=)
c.-25T>G (n.-25T>G)
c.375T>G (p.Gly125=)
10g.80170896A>GCA470459209ANXA11c.75T>C (p.Gly25=)
c.-25T>C (n.-25T>C)
c.375T>C (p.Gly125=)
10g.80170896A>TCA470459208ANXA11c.75T>A (p.Gly25=)
c.-25T>A (n.-25T>A)
c.375T>A (p.Gly125=)
10g.80170897C>ACA377368902ANXA11c.74G>T (p.Gly25Val)
c.-26G>T (n.-26G>T)
c.374G>T (p.Gly125Val)
gnomAD v4
10g.80170897C=CA1922528122ANXA11c.74G= (p.Gly25=)
c.-26G= (n.-26G=)
c.374G= (p.Gly125=)
10g.80170897C>GCA377368903ANXA11c.74G>C (p.Gly25Ala)
c.-26G>C (n.-26G>C)
c.374G>C (p.Gly125Ala)
dbSNP gnomAD v2
10g.80170897C>TCA5576401ANXA11c.74G>A (p.Gly25Asp)
c.-26G>A (n.-26G>A)
c.374G>A (p.Gly125Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170898C>ACA377368904ANXA11c.73G>T (p.Gly25Cys)
c.-27G>T (n.-27G>T)
c.373G>T (p.Gly125Cys)
COSMIC
10g.80170898C>GCA377368905ANXA11c.73G>C (p.Gly25Arg)
c.-27G>C (n.-27G>C)
c.373G>C (p.Gly125Arg)
10g.80170898C>TCA377368906ANXA11c.73G>A (p.Gly25Ser)
c.-27G>A (n.-27G>A)
c.373G>A (p.Gly125Ser)
gnomAD v4
10g.80170899T>ACA470459219ANXA11c.72A>T (p.Gly24=)
c.-28A>T (n.-28A>T)
c.372A>T (p.Gly124=)
10g.80170899T>CCA470459221ANXA11c.72A>G (p.Gly24=)
c.-28A>G (n.-28A>G)
c.372A>G (p.Gly124=)
gnomAD v4
10g.80170899T>GCA470459223ANXA11c.72A>C (p.Gly24=)
c.-28A>C (n.-28A>C)
c.372A>C (p.Gly124=)
10g.80170900C>ACA377368907ANXA11c.71G>T (p.Gly24Val)
c.-29G>T (n.-29G>T)
c.371G>T (p.Gly124Val)
10g.80170900C=CA1922528123ANXA11c.71G= (p.Gly24=)
c.-29G= (n.-29G=)
c.371G= (p.Gly124=)
10g.80170900C>GCA377368908ANXA11c.71G>C (p.Gly24Ala)
c.-29G>C (n.-29G>C)
c.371G>C (p.Gly124Ala)
dbSNP
10g.80170900C>TCA377368909ANXA11c.71G>A (p.Gly24Glu)
c.-29G>A (n.-29G>A)
c.371G>A (p.Gly124Glu)
10g.80170903delCA2609899832ANXA11c.71del (p.Gly24GlufsTer?)
c.-29del (n.-29del)
c.371del (p.Gly124GlufsTer?)
gnomAD v4
10g.80170901C>ACA377368912ANXA11c.70G>T (p.Gly24Ter)
c.-30G>T (n.-30G>T)
c.370G>T (p.Gly124Ter)
gnomAD v4
10g.80170901C=CA1922528124ANXA11c.70G= (p.Gly24=)
c.-30G= (n.-30G=)
c.370G= (p.Gly124=)
10g.80170901C>GCA377368910ANXA11c.70G>C (p.Gly24Arg)
c.-30G>C (n.-30G>C)
c.370G>C (p.Gly124Arg)
10g.80170901C>TCA377368911ANXA11c.70G>A (p.Gly24Arg)
c.-30G>A (n.-30G>A)
c.370G>A (p.Gly124Arg)
dbSNP gnomAD v2 gnomAD v4
10g.80170902C>ACA377368913ANXA11c.69G>T (p.Trp23Cys)
c.-31G>T (n.-31G>T)
c.369G>T (p.Trp123Cys)
10g.80170902C>GCA377368914ANXA11c.69G>C (p.Trp23Cys)
c.-31G>C (n.-31G>C)
c.369G>C (p.Trp123Cys)
10g.80170902C>TCA377368915ANXA11c.69G>A (p.Trp23Ter)
c.-31G>A (n.-31G>A)
c.369G>A (p.Trp123Ter)
10g.80170903C>ACA377368916ANXA11c.68G>T (p.Trp23Leu)
c.-32G>T (n.-32G>T)
c.368G>T (p.Trp123Leu)
10g.80170903C>GCA377368917ANXA11c.68G>C (p.Trp23Ser)
c.-32G>C (n.-32G>C)
c.368G>C (p.Trp123Ser)
10g.80170903C>TCA377368918ANXA11c.68G>A (p.Trp23Ter)
c.-32G>A (n.-32G>A)
c.368G>A (p.Trp123Ter)
gnomAD v4
10g.80170904A>CCA377368919ANXA11c.67T>G (p.Trp23Gly)
c.-33T>G (n.-33T>G)
c.367T>G (p.Trp123Gly)
10g.80170904A>GCA377368920ANXA11c.67T>C (p.Trp23Arg)
c.-33T>C (n.-33T>C)
c.367T>C (p.Trp123Arg)
ClinVar gnomAD v4
10g.80170904A>TCA377368921ANXA11c.67T>A (p.Trp23Arg)
c.-33T>A (n.-33T>A)
c.367T>A (p.Trp123Arg)
10g.80170905G>ACA470459238ANXA11c.66C>T (p.Pro22=)
c.-34C>T (n.-34C>T)
c.366C>T (p.Pro122=)
gnomAD v4
10g.80170905G>CCA470459240ANXA11c.66C>G (p.Pro22=)
c.-34C>G (n.-34C>G)
c.366C>G (p.Pro122=)
10g.80170905G>TCA470459242ANXA11c.66C>A (p.Pro22=)
c.-34C>A (n.-34C>A)
c.366C>A (p.Pro122=)
gnomAD v4
10g.80170906G>ACA5576402ANXA11c.65C>T (p.Pro22Leu)
c.-35C>T (n.-35C>T)
c.365C>T (p.Pro122Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170906G>CCA377368922ANXA11c.65C>G (p.Pro22Arg)
c.-35C>G (n.-35C>G)
c.365C>G (p.Pro122Arg)
gnomAD v4
10g.80170906G=CA1922528125ANXA11c.65C= (p.Pro22=)
c.-35C= (n.-35C=)
c.365C= (p.Pro122=)
10g.80170906G>TCA377368923ANXA11c.65C>A (p.Pro22His)
c.-35C>A (n.-35C>A)
c.365C>A (p.Pro122His)
gnomAD v4
10g.80170907G>ACA377368925ANXA11c.64C>T (p.Pro22Ser)
c.-36C>T (n.-36C>T)
c.364C>T (p.Pro122Ser)
dbSNP gnomAD v4
10g.80170907G>CCA377368926ANXA11c.64C>G (p.Pro22Ala)
c.-36C>G (n.-36C>G)
c.364C>G (p.Pro122Ala)
10g.80170907G=CA1922528126ANXA11c.64C= (p.Pro22=)
c.-36C= (n.-36C=)
c.364C= (p.Pro122=)
10g.80170907G>TCA377368924ANXA11c.64C>A (p.Pro22Thr)
c.-36C>A (n.-36C>A)
c.364C>A (p.Pro122Thr)
10g.80170908A>CCA470459251ANXA11c.63T>G (p.Gly21=)
c.-37T>G (n.-37T>G)
c.363T>G (p.Gly121=)
10g.80170908A>GCA470459253ANXA11c.63T>C (p.Gly21=)
c.-37T>C (n.-37T>C)
c.363T>C (p.Gly121=)
10g.80170908A>TCA470459254ANXA11c.63T>A (p.Gly21=)
c.-37T>A (n.-37T>A)
c.363T>A (p.Gly121=)
gnomAD v4
10g.80170909C>ACA377368929ANXA11c.62G>T (p.Gly21Val)
c.-38G>T (n.-38G>T)
c.362G>T (p.Gly121Val)
10g.80170909C>GCA377368927ANXA11c.62G>C (p.Gly21Ala)
c.-38G>C (n.-38G>C)
c.362G>C (p.Gly121Ala)
10g.80170909C>TCA377368928ANXA11c.62G>A (p.Gly21Asp)
c.-38G>A (n.-38G>A)
c.362G>A (p.Gly121Asp)
10g.80170910C>ACA377368930ANXA11c.61G>T (p.Gly21Cys)
c.-39G>T (n.-39G>T)
c.361G>T (p.Gly121Cys)
10g.80170910C=CA1922528127ANXA11c.61G= (p.Gly21=)
c.-39G= (n.-39G=)
c.361G= (p.Gly121=)
10g.80170910C>GCA377368931ANXA11c.61G>C (p.Gly21Arg)
c.-39G>C (n.-39G>C)
c.361G>C (p.Gly121Arg)
dbSNP gnomAD v2 gnomAD v4
10g.80170910C>TCA377368932ANXA11c.61G>A (p.Gly21Ser)
c.-39G>A (n.-39G>A)
c.361G>A (p.Gly121Ser)
10g.80170911A>CCA470459264ANXA11c.60T>G (p.Gly20=)
c.-40T>G (n.-40T>G)
c.360T>G (p.Gly120=)
10g.80170911A>GCA470459266ANXA11c.60T>C (p.Gly20=)
c.-40T>C (n.-40T>C)
c.360T>C (p.Gly120=)
10g.80170911A>TCA470459268ANXA11c.60T>A (p.Gly20=)
c.-40T>A (n.-40T>A)
c.360T>A (p.Gly120=)
10g.80170912C>ACA377368935ANXA11c.59G>T (p.Gly20Val)
c.-41G>T (n.-41G>T)
c.359G>T (p.Gly120Val)
dbSNP gnomAD v2 gnomAD v4
10g.80170912C=CA1922528128ANXA11c.59G= (p.Gly20=)
c.-41G= (n.-41G=)
c.359G= (p.Gly120=)
10g.80170912C>GCA377368934ANXA11c.59G>C (p.Gly20Ala)
c.-41G>C (n.-41G>C)
c.359G>C (p.Gly120Ala)
10g.80170912C>TCA377368933ANXA11c.59G>A (p.Gly20Asp)
c.-41G>A (n.-41G>A)
c.359G>A (p.Gly120Asp)
10g.80170913C>ACA377368936ANXA11c.58G>T (p.Gly20Cys)
c.-42G>T (n.-42G>T)
c.358G>T (p.Gly120Cys)
10g.80170913C>GCA377368937ANXA11c.58G>C (p.Gly20Arg)
c.-42G>C (n.-42G>C)
c.358G>C (p.Gly120Arg)
10g.80170913C>TCA377368938ANXA11c.58G>A (p.Gly20Ser)
c.-42G>A (n.-42G>A)
c.358G>A (p.Gly120Ser)
10g.80170914A>CCA470459277ANXA11c.57T>G (p.Gly19=)
c.-43T>G (n.-43T>G)
c.357T>G (p.Gly119=)
10g.80170914A>GCA470459278ANXA11c.57T>C (p.Gly19=)
c.-43T>C (n.-43T>C)
c.357T>C (p.Gly119=)
10g.80170914A>TCA470459280ANXA11c.57T>A (p.Gly19=)
c.-43T>A (n.-43T>A)
c.357T>A (p.Gly119=)
10g.80170915C>ACA377368939ANXA11c.56G>T (p.Gly19Val)
c.-44G>T (n.-44G>T)
c.356G>T (p.Gly119Val)
10g.80170915C=CA1922528129ANXA11c.56G= (p.Gly19=)
c.-44G= (n.-44G=)
c.356G= (p.Gly119=)
10g.80170915C>GCA377368940ANXA11c.56G>C (p.Gly19Ala)
c.-44G>C (n.-44G>C)
c.356G>C (p.Gly119Ala)
10g.80170915C>TCA5576403ANXA11c.56G>A (p.Gly19Asp)
c.-44G>A (n.-44G>A)
c.356G>A (p.Gly119Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170916C>ACA377368941ANXA11c.56-1G>T (n.56-1G>T)
c.-44-1G>T (n.-44-1G>T)
c.355G>T (p.Gly119Cys)
gnomAD v4
10g.80170916C>GCA377368943ANXA11c.56-1G>C (n.56-1G>C)
c.-44-1G>C (n.-44-1G>C)
c.355G>C (p.Gly119Arg)
10g.80170916C>TCA377368942ANXA11c.56-1G>A (n.56-1G>A)
c.-44-1G>A (n.-44-1G>A)
c.355G>A (p.Gly119Ser)
10g.80170917T>ACA377368944ANXA11c.56-2A>T (n.56-2A>T)
c.-44-2A>T (n.-44-2A>T)
c.354A>T (p.Ser118=)
10g.80170917T>CCA377368945ANXA11c.56-2A>G (n.56-2A>G)
c.-44-2A>G (n.-44-2A>G)
c.354A>G (p.Ser118=)
gnomAD v4
10g.80170917T>GCA377368946ANXA11c.56-2A>C (n.56-2A>C)
c.-44-2A>C (n.-44-2A>C)
c.354A>C (p.Ser118=)
10g.80170918G>ACA2609899835ANXA11c.56-3C>T (n.56-3C>T)
c.-44-3C>T (n.-44-3C>T)
c.353C>T (p.Ser118Leu)
gnomAD v4
10g.80170922G>ACA2609899836ANXA11c.56-7C>T (n.56-7C>T)
c.-44-7C>T (n.-44-7C>T)
c.349C>T (p.Leu117Phe)
gnomAD v4
10g.80170922G>TCA2609899837ANXA11c.56-7C>A (n.56-7C>A)
c.-44-7C>A (n.-44-7C>A)
c.349C>A (p.Leu117Ile)
gnomAD v4
10g.80170924A>CCA2609899838ANXA11c.56-9T>G (n.56-9T>G)
c.-44-9T>G (n.-44-9T>G)
c.347T>G (p.Leu116Trp)
gnomAD v4
10g.80170924A>GCA2609899839ANXA11c.56-9T>C (n.56-9T>C)
c.-44-9T>C (n.-44-9T>C)
c.347T>C (p.Leu116Ser)
gnomAD v4
10g.80170926C>TCA2609899840ANXA11c.56-11G>A (n.56-11G>A)
c.-44-11G>A (n.-44-11G>A)
c.345G>A (p.Val115=)
gnomAD v4
10g.80170927A=CA1922528130ANXA11c.56-12T= (n.56-12T=)
c.-44-12T= (n.-44-12T=)
c.344T= (p.Val115=)
10g.80170927A>GCA594465206ANXA11c.56-12T>C (n.56-12T>C)
c.-44-12T>C (n.-44-12T>C)
c.344T>C (p.Val115Ala)
dbSNP gnomAD v2 gnomAD v4
10g.80170927A>TCA2609899841ANXA11c.56-12T>A (n.56-12T>A)
c.-44-12T>A (n.-44-12T>A)
c.344T>A (p.Val115Glu)
gnomAD v4
10g.80170928C>ACA2609899842ANXA11c.56-13G>T (n.56-13G>T)
c.-44-13G>T (n.-44-13G>T)
c.343G>T (p.Val115Leu)
gnomAD v4
10g.80170928C>GCA2609899843ANXA11c.56-13G>C (n.56-13G>C)
c.-44-13G>C (n.-44-13G>C)
c.343G>C (p.Val115Leu)
gnomAD v4
10g.80170929C>ACA2609899844ANXA11c.56-14G>T (n.56-14G>T)
c.-44-14G>T (n.-44-14G>T)
c.342G>T (p.Leu114Phe)
gnomAD v4
10g.80170931A>GCA2609899845ANXA11c.56-16T>C (n.56-16T>C)
c.-44-16T>C (n.-44-16T>C)
c.340T>C (p.Leu114=)
gnomAD v4
10g.80170932G>ACA2609899846ANXA11c.56-17C>T (n.56-17C>T)
c.-44-17C>T (n.-44-17C>T)
c.339C>T (p.Gly113=)
gnomAD v4
10g.80170932G>CCA1922528132ANXA11c.56-17C>G (n.56-17C>G)
c.-44-17C>G (n.-44-17C>G)
c.339C>G (p.Gly113=)
dbSNP gnomAD v4
10g.80170932G=CA1922528131ANXA11c.56-17C= (n.56-17C=)
c.-44-17C= (n.-44-17C=)
c.339C= (p.Gly113=)
10g.80170933C>ACA2609899847ANXA11c.56-18G>T (n.56-18G>T)
c.-44-18G>T (n.-44-18G>T)
c.338G>T (p.Gly113Val)
gnomAD v4
10g.80170934C>ACA2609899848ANXA11c.56-19G>T (n.56-19G>T)
c.-44-19G>T (n.-44-19G>T)
c.337G>T (p.Gly113Cys)
gnomAD v4
10g.80170934C=CA1922528133ANXA11c.56-19G= (n.56-19G=)
c.-44-19G= (n.-44-19G=)
c.337G= (p.Gly113=)
10g.80170934C>TCA594465207ANXA11c.56-19G>A (n.56-19G>A)
c.-44-19G>A (n.-44-19G>A)
c.337G>A (p.Gly113Ser)
dbSNP gnomAD v2 gnomAD v4
10g.80170935C>ACA2609899849ANXA11c.56-20G>T (n.56-20G>T)
c.-44-20G>T (n.-44-20G>T)
c.336G>T (p.Lys112Asn)
gnomAD v4
10g.80170936T>CCA2609899851ANXA11c.56-21A>G (n.56-21A>G)
c.-44-21A>G (n.-44-21A>G)
c.335A>G (p.Lys112Arg)
gnomAD v4
10g.80170936T>GCA5576404ANXA11c.56-21A>C (n.56-21A>C)
c.-44-21A>C (n.-44-21A>C)
c.335A>C (p.Lys112Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170936T=CA1922528134ANXA11c.56-21A= (n.56-21A=)
c.-44-21A= (n.-44-21A=)
c.335A= (p.Lys112=)
10g.80170938delCA2609899850ANXA11c.56-21del (n.56-21del)
c.-44-21del (n.-44-21del)
c.335del (p.Lys112ArgfsTer?)
gnomAD v4
10g.80170937T>GCA2574594843ANXA11c.56-22A>C (n.56-22A>C)
c.-44-22A>C (n.-44-22A>C)
c.334A>C (p.Lys112Gln)
10g.80170938T>CCA2609899852ANXA11c.56-23A>G (n.56-23A>G)
c.-44-23A>G (n.-44-23A>G)
c.333A>G (p.Leu111=)
gnomAD v4
10g.80170940G>TCA2609899853ANXA11c.56-25C>A (n.56-25C>A)
c.-44-25C>A (n.-44-25C>A)
c.331C>A (p.Leu111Ile)
gnomAD v4
10g.80170941C>ACA5576405ANXA11c.56-26G>T (n.56-26G>T)
c.-44-26G>T (n.-44-26G>T)
c.330G>T (p.Gly110=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170941C=CA1922528135ANXA11c.56-26G= (n.56-26G=)
c.-44-26G= (n.-44-26G=)
c.330G= (p.Gly110=)
10g.80170941C>GCA2609899855ANXA11c.56-26G>C (n.56-26G>C)
c.-44-26G>C (n.-44-26G>C)
c.330G>C (p.Gly110=)
gnomAD v4
10g.80170941C>TCA2609899854ANXA11c.56-26G>A (n.56-26G>A)
c.-44-26G>A (n.-44-26G>A)
c.330G>A (p.Gly110=)
gnomAD v4
10g.80170945delCA2609899856ANXA11c.56-26del (n.56-26del)
c.-44-26del (n.-44-26del)
c.330del (p.Leu111Ter)
gnomAD v4
10g.80170943C>ACA5576406ANXA11c.56-28G>T (n.56-28G>T)
c.-44-28G>T (n.-44-28G>T)
c.328G>T (p.Gly110Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170943C=CA1922528136ANXA11c.56-28G= (n.56-28G=)
c.-44-28G= (n.-44-28G=)
c.328G= (p.Gly110=)
10g.80170943C>TCA210334168ANXA11c.56-28G>A (n.56-28G>A)
c.-44-28G>A (n.-44-28G>A)
c.328G>A (p.Gly110Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.80170944C>ACA2609899857ANXA11c.56-29G>T (n.56-29G>T)
c.-44-29G>T (n.-44-29G>T)
c.327G>T (p.Arg109Ser)
gnomAD v4
10g.80170945C>ACA2609899858ANXA11c.56-30G>T (n.56-30G>T)
c.-44-30G>T (n.-44-30G>T)
c.326G>T (p.Arg109Met)
gnomAD v4
10g.80170945_80170946delinsCTCA1922528137ANXA11c.56-31_56-30delinsAG (n.56-31_56-30delinsAG)
c.-44-31_-44-30delinsAG (n.-44-31_-44-30delinsAG)
c.325_326delinsAG (p.Arg109=)
10g.80170946delCA668857093ANXA11c.56-31del (n.56-31del)
c.-44-31del (n.-44-31del)
c.325del (p.Arg109GlyfsTer3)
dbSNP gnomAD v3 gnomAD v4
10g.80170946T>ACA2609899859ANXA11c.56-31A>T (n.56-31A>T)
c.-44-31A>T (n.-44-31A>T)
c.325A>T (p.Arg109Trp)
gnomAD v4
10g.80170946T>CCA2609899860ANXA11c.56-31A>G (n.56-31A>G)
c.-44-31A>G (n.-44-31A>G)
c.325A>G (p.Arg109Gly)
gnomAD v4
10g.80170946T>GCA2574594844ANXA11c.56-31A>C (n.56-31A>C)
c.-44-31A>C (n.-44-31A>C)
c.325A>C (p.Arg109=)
10g.80170947G>ACA2609899861ANXA11c.56-32C>T (n.56-32C>T)
c.-44-32C>T (n.-44-32C>T)
c.324C>T (p.Gly108=)
gnomAD v4
10g.80170947G>TCA2609899862ANXA11c.56-32C>A (n.56-32C>A)
c.-44-32C>A (n.-44-32C>A)
c.324C>A (p.Gly108=)
gnomAD v4
10g.80170948C>ACA2609899863ANXA11c.56-33G>T (n.56-33G>T)
c.-44-33G>T (n.-44-33G>T)
c.323G>T (p.Gly108Val)
gnomAD v4
10g.80170948C=CA1922528138ANXA11c.56-33G= (n.56-33G=)
c.-44-33G= (n.-44-33G=)
c.323G= (p.Gly108=)
10g.80170948C>GCA2574594845ANXA11c.56-33G>C (n.56-33G>C)
c.-44-33G>C (n.-44-33G>C)
c.323G>C (p.Gly108Ala)
gnomAD v4
10g.80170948C>TCA594465208ANXA11c.56-33G>A (n.56-33G>A)
c.-44-33G>A (n.-44-33G>A)
c.323G>A (p.Gly108Asp)
dbSNP gnomAD v2 gnomAD v4
10g.80170949C>ACA2609899864ANXA11c.56-34G>T (n.56-34G>T)
c.-44-34G>T (n.-44-34G>T)
c.322G>T (p.Gly108Cys)
gnomAD v4
10g.80170949C>TCA2609899865ANXA11c.56-34G>A (n.56-34G>A)
c.-44-34G>A (n.-44-34G>A)
c.322G>A (p.Gly108Ser)
gnomAD v4
10g.80170950A>GCA2609899866ANXA11c.56-35T>C (n.56-35T>C)
c.-44-35T>C (n.-44-35T>C)
c.321T>C (p.Thr107=)
gnomAD v4
10g.80170951G>ACA2609899868ANXA11c.56-36C>T (n.56-36C>T)
c.-44-36C>T (n.-44-36C>T)
c.320C>T (p.Thr107Ile)
gnomAD v4
10g.80170951G>CCA2788700640ANXA11c.56-36C>G (n.56-36C>G)
c.-44-36C>G (n.-44-36C>G)
c.320C>G (p.Thr107Ser)
10g.80170951G>TCA2609899867ANXA11c.56-36C>A (n.56-36C>A)
c.-44-36C>A (n.-44-36C>A)
c.320C>A (p.Thr107Asn)
gnomAD v4
10g.80170952T>CCA2609899870ANXA11c.56-37A>G (n.56-37A>G)
c.-44-37A>G (n.-44-37A>G)
c.319A>G (p.Thr107Ala)
gnomAD v4
10g.80170952T>GCA594465209ANXA11c.56-37A>C (n.56-37A>C)
c.-44-37A>C (n.-44-37A>C)
c.319A>C (p.Thr107Pro)
dbSNP gnomAD v2 gnomAD v4
10g.80170952T=CA1922528140ANXA11c.56-37A= (n.56-37A=)
c.-44-37A= (n.-44-37A=)
c.319A= (p.Thr107=)
10g.80170952_80170953delinsTCCA1922528139ANXA11c.56-38_56-37delinsGA (n.56-38_56-37delinsGA)
c.-44-38_-44-37delinsGA (n.-44-38_-44-37delinsGA)
c.318_319delinsGA (p.Gly106=)
10g.80170953C>ACA2609899872ANXA11c.56-38G>T (n.56-38G>T)
c.-44-38G>T (n.-44-38G>T)
c.318G>T (p.Gly106=)
gnomAD v4
10g.80170953C>TCA2609899871ANXA11c.56-38G>A (n.56-38G>A)
c.-44-38G>A (n.-44-38G>A)
c.318G>A (p.Gly106=)
gnomAD v4
10g.80170957delCA1922528141ANXA11c.56-38del (n.56-38del)
c.-44-38del (n.-44-38del)
c.318del (p.Thr107LeufsTer5)
dbSNP gnomAD v4
10g.80170954C>ACA2609899873ANXA11c.56-39G>T (n.56-39G>T)
c.-44-39G>T (n.-44-39G>T)
c.317G>T (p.Gly106Val)
gnomAD v4
10g.80170954C=CA1922528142ANXA11c.56-39G= (n.56-39G=)
c.-44-39G= (n.-44-39G=)
c.317G= (p.Gly106=)
10g.80170954C>TCA594465210ANXA11c.56-39G>A (n.56-39G>A)
c.-44-39G>A (n.-44-39G>A)
c.317G>A (p.Gly106Glu)
dbSNP gnomAD v2 gnomAD v4
10g.80170955C>ACA2609899874ANXA11c.56-40G>T (n.56-40G>T)
c.-44-40G>T (n.-44-40G>T)
c.316G>T (p.Gly106Trp)
gnomAD v4
10g.80170955C=CA1922528143ANXA11c.56-40G= (n.56-40G=)
c.-44-40G= (n.-44-40G=)
c.316G= (p.Gly106=)
10g.80170955C>TCA594465211ANXA11c.56-40G>A (n.56-40G>A)
c.-44-40G>A (n.-44-40G>A)
c.316G>A (p.Gly106Arg)
dbSNP gnomAD v2 gnomAD v4
10g.80170956C>ACA2609899875ANXA11c.56-41G>T (n.56-41G>T)
c.-44-41G>T (n.-44-41G>T)
c.315G>T (p.Trp105Cys)
gnomAD v4
10g.80170956C=CA1922528144ANXA11c.56-41G= (n.56-41G=)
c.-44-41G= (n.-44-41G=)
c.315G= (p.Trp105=)
10g.80170956C>TCA5576407ANXA11c.56-41G>A (n.56-41G>A)
c.-44-41G>A (n.-44-41G>A)
c.315G>A (p.Trp105Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170957C>ACA5576409ANXA11c.56-42G>T (n.56-42G>T)
c.-44-42G>T (n.-44-42G>T)
c.314G>T (p.Trp105Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80170957C=CA1922528145ANXA11c.56-42G= (n.56-42G=)
c.-44-42G= (n.-44-42G=)
c.314G= (p.Trp105=)
10g.80170957C>TCA5576408ANXA11c.56-42G>A (n.56-42G>A)
c.-44-42G>A (n.-44-42G>A)
c.314G>A (p.Trp105Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80170958A>GCA2609899877ANXA11c.56-43T>C (n.56-43T>C)
c.-44-43T>C (n.-44-43T>C)
c.313T>C (p.Trp105Arg)
gnomAD v4
10g.80170959C>ACA2550606898ANXA11c.56-44G>T (n.56-44G>T)
c.-44-44G>T (n.-44-44G>T)
c.312G>T (p.Trp104Cys)
gnomAD v4

Number of alleles fetched