Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.70439121C>ACA340839870CTHc.1212C>A (p.His404Gln)
c.1080C>A (p.His360Gln)
c.1116C>A (p.His372Gln)
n.487C>A
c.885C>A (p.His295Gln)
c.642C>A (p.His214Gln)
1g.70439121C=CA1174413852CTHc.1212C= (p.His404=)
c.1080C= (p.His360=)
c.1116C= (p.His372=)
n.487C=
c.885C= (p.His295=)
c.642C= (p.His214=)
1g.70439121C>GCA340839871CTHc.1212C>G (p.His404Gln)
c.1080C>G (p.His360Gln)
c.1116C>G (p.His372Gln)
n.487C>G
c.885C>G (p.His295Gln)
c.642C>G (p.His214Gln)
1g.70439121C>TCA418367154CTHc.1212C>T (p.His404=)
c.1080C>T (p.His360=)
c.1116C>T (p.His372=)
n.487C>T
c.885C>T (p.His295=)
c.642C>T (p.His214=)
 dbSNP gnomAD v4
1g.70439122A>CCA340839872CTHc.1213A>C (p.Ser405Arg)
c.1081A>C (p.Ser361Arg)
c.1117A>C (p.Ser373Arg)
n.488A>C
c.886A>C (p.Ser296Arg)
c.643A>C (p.Ser215Arg)
1g.70439122A>GCA340839874CTHc.1213A>G (p.Ser405Gly)
c.1081A>G (p.Ser361Gly)
c.1117A>G (p.Ser373Gly)
n.488A>G
c.886A>G (p.Ser296Gly)
c.643A>G (p.Ser215Gly)
1g.70439122A>TCA340839873CTHc.1213A>T (p.Ser405Cys)
c.1081A>T (p.Ser361Cys)
c.1117A>T (p.Ser373Cys)
n.488A>T
c.886A>T (p.Ser296Cys)
c.643A>T (p.Ser215Cys)
1g.70439123G>ACA340839875CTHc.1214G>A (p.Ser405Asn)
c.1082G>A (p.Ser361Asn)
c.1118G>A (p.Ser373Asn)
n.489G>A
c.887G>A (p.Ser296Asn)
c.644G>A (p.Ser215Asn)
1g.70439123G>CCA340839876CTHc.1214G>C (p.Ser405Thr)
c.1082G>C (p.Ser361Thr)
c.1118G>C (p.Ser373Thr)
n.489G>C
c.887G>C (p.Ser296Thr)
c.644G>C (p.Ser215Thr)
 gnomAD v4
1g.70439123G>TCA340839877CTHc.1214G>T (p.Ser405Ile)
c.1082G>T (p.Ser361Ile)
c.1118G>T (p.Ser373Ile)
n.489G>T
c.887G>T (p.Ser296Ile)
c.644G>T (p.Ser215Ile)
1g.70439124C>ACA340839880CTHc.1215C>A (p.Ser405Arg)
c.1083C>A (p.Ser361Arg)
c.1119C>A (p.Ser373Arg)
n.490C>A
c.888C>A (p.Ser296Arg)
c.645C>A (p.Ser215Arg)
1g.70439124C>GCA340839882CTHc.1215C>G (p.Ser405Arg)
c.1083C>G (p.Ser361Arg)
c.1119C>G (p.Ser373Arg)
n.490C>G
c.888C>G (p.Ser296Arg)
c.645C>G (p.Ser215Arg)
1g.70439124C>TCA418367155CTHc.1215C>T (p.Ser405=)
c.1083C>T (p.Ser361=)
c.1119C>T (p.Ser373=)
n.490C>T
c.888C>T (p.Ser296=)
c.645C>T (p.Ser215=)
 COSMIC
1g.70439125T>ACA340839884CTHc.1216T>A (p.Ter406Lys)
c.1084T>A (p.Ter362Lys)
c.1120T>A (p.Ter374Lys)
n.491T>A
c.889T>A (p.Ter297Lys)
c.646T>A (p.Ter216Lys)
1g.70439125T>CCA340839886CTHc.1216T>C (p.Ter406Gln)
c.1084T>C (p.Ter362Gln)
c.1120T>C (p.Ter374Gln)
n.491T>C
c.889T>C (p.Ter297Gln)
c.646T>C (p.Ter216Gln)
 gnomAD v4
1g.70439125T>GCA340839888CTHc.1216T>G (p.Ter406Glu)
c.1084T>G (p.Ter362Glu)
c.1120T>G (p.Ter374Glu)
n.491T>G
c.889T>G (p.Ter297Glu)
c.646T>G (p.Ter216Glu)
1g.70439126A>CCA340839890CTHc.1217A>C (p.Ter406Ser)
c.1085A>C (p.Ter362Ser)
c.1121A>C (p.Ter374Ser)
n.492A>C
c.890A>C (p.Ter297Ser)
c.647A>C (p.Ter216Ser)
1g.70439126A>GCA340839892CTHc.1217A>G (p.Ter406Trp)
c.1085A>G (p.Ter362Trp)
c.1121A>G (p.Ter374Trp)
n.492A>G
c.890A>G (p.Ter297Trp)
c.647A>G (p.Ter216Trp)
1g.70439126A>TCA340839894CTHc.1217A>T (p.Ter406Leu)
c.1085A>T (p.Ter362Leu)
c.1121A>T (p.Ter374Leu)
n.492A>T
c.890A>T (p.Ter297Leu)
c.647A>T (p.Ter216Leu)
1g.70439127G>ACA418367158CTHc.1218G>A (p.Ter406=)
c.1086G>A (p.Ter362=)
c.1122G>A (p.Ter374=)
n.493G>A
c.891G>A (p.Ter297=)
c.648G>A (p.Ter216=)
 gnomAD v4
1g.70439127G>CCA340839895CTHc.1218G>C (p.Ter406Tyr)
c.1086G>C (p.Ter362Tyr)
c.1122G>C (p.Ter374Tyr)
n.493G>C
c.891G>C (p.Ter297Tyr)
c.648G>C (p.Ter216Tyr)
1g.70439127G>TCA340839897CTHc.1218G>T (p.Ter406Tyr)
c.1086G>T (p.Ter362Tyr)
c.1122G>T (p.Ter374Tyr)
n.493G>T
c.891G>T (p.Ter297Tyr)
c.648G>T (p.Ter216Tyr)
1g.70439128T>GCA2646204273CTHc.*1T>G (n.*1T>G)
n.494T>G
 gnomAD v4
1g.70439129A>GCA2646204274CTHc.*2A>G (n.*2A>G)
n.495A>G
 gnomAD v4
1g.70439130T>CCA906428CTHc.*3T>C (n.*3T>C)
n.496T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.70439130T=CA1143811686CTHc.*3T= (n.*3T=)
n.496T=
1g.70439131T>ACA523426611CTHc.*4T>A (n.*4T>A)
n.497T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.70439131T>CCA1174413853CTHc.*4T>C (n.*4T>C)
n.497T>C
 dbSNP gnomAD v3 gnomAD v4
1g.70439131T=CA1174413854CTHc.*4T= (n.*4T=)
n.497T=
1g.70439132C>ACA2646204275CTHc.*5C>A (n.*5C>A)
n.498C>A
 gnomAD v4
1g.70439132C=CA1174413855CTHc.*5C= (n.*5C=)
n.498C=
1g.70439132C>GCA2646204276CTHc.*5C>G (n.*5C>G)
n.498C>G
 gnomAD v4
1g.70439132C>TCA523426612CTHc.*5C>T (n.*5C>T)
n.498C>T
 dbSNP gnomAD v2 gnomAD v4
1g.70439133C>ACA2646204277CTHc.*6C>A (n.*6C>A)
n.499C>A
 gnomAD v4
1g.70439135G>CCA2646204278CTHc.*8G>C (n.*8G>C)
n.501G>C
 gnomAD v4
1g.70439135G>TCA2512631249CTHc.*8G>T (n.*8G>T)
n.501G>T
1g.70439137G>ACA906429CTHc.*10G>A (n.*10G>A)
n.503G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.70439137G=CA1174413856CTHc.*10G= (n.*10G=)
n.503G=
1g.70439138C>ACA2646204279CTHc.*11C>A (n.*11C>A)
n.504C>A
 gnomAD v4
1g.70439140G>TCA2574405735CTHc.*13G>T (n.*13G>T)
n.506G>T
 gnomAD v4
1g.70439142T>ACA2646204280CTHc.*15T>A (n.*15T>A)
n.508T>A
 gnomAD v4
1g.70439143A=CA1174413857CTHc.*16A= (n.*16A=)
n.509A=
1g.70439143A>GCA906430CTHc.*16A>G (n.*16A>G)
n.509A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.70439144T>ACA2646204282CTHc.*17T>A (n.*17T>A)
n.510T>A
 gnomAD v4
1g.70439145delCA2646204281CTHc.*18del (n.*18del)
n.511del
 gnomAD v4
1g.70439146A=CA1174413858CTHc.*19A= (n.*19A=)
n.512A=
1g.70439146A>GCA24519589CTHc.*19A>G (n.*19A>G)
n.512A>G
 dbSNP gnomAD v4
1g.70439147G>TCA2646204283CTHc.*20G>T (n.*20G>T)
n.513G>T
 gnomAD v4
1g.70439148A>CCA2646204285CTHc.*21A>C (n.*21A>C)
n.514A>C
 gnomAD v4
1g.70439149delCA2646204284CTHc.*22del (n.*22del)
n.515del
 gnomAD v4

Number of alleles fetched