Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.56881538C>ACA2673909959MAP3K1c.2370-32C>A (n.2370-32C>A)
c.1992-32C>A (n.1992-32C>A)
c.2115-32C>A (n.2115-32C>A)
c.2091-32C>A (n.2091-32C>A)
c.1959-32C>A (n.1959-32C>A)
c.1881-32C>A (n.1881-32C>A)
n.2401-32C>A
gnomAD v4
5g.56881538C=CA1548139209MAP3K1c.2370-32C= (n.2370-32C=)
c.1992-32C= (n.1992-32C=)
c.2115-32C= (n.2115-32C=)
c.2091-32C= (n.2091-32C=)
c.1959-32C= (n.1959-32C=)
c.1881-32C= (n.1881-32C=)
n.2401-32C=
5g.56881538C>TCA3272989MAP3K1c.2370-32C>T (n.2370-32C>T)
c.1992-32C>T (n.1992-32C>T)
c.2115-32C>T (n.2115-32C>T)
c.2091-32C>T (n.2091-32C>T)
c.1959-32C>T (n.1959-32C>T)
c.1881-32C>T (n.1881-32C>T)
n.2401-32C>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881539T>CCA3272990MAP3K1c.2370-31T>C (n.2370-31T>C)
c.1992-31T>C (n.1992-31T>C)
c.2115-31T>C (n.2115-31T>C)
c.2091-31T>C (n.2091-31T>C)
c.1959-31T>C (n.1959-31T>C)
c.1881-31T>C (n.1881-31T>C)
n.2401-31T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881539T>GCA2673909960MAP3K1c.2370-31T>G (n.2370-31T>G)
c.1992-31T>G (n.1992-31T>G)
c.2115-31T>G (n.2115-31T>G)
c.2091-31T>G (n.2091-31T>G)
c.1959-31T>G (n.1959-31T>G)
c.1881-31T>G (n.1881-31T>G)
n.2401-31T>G
gnomAD v4
5g.56881539T=CA1548139210MAP3K1c.2370-31T= (n.2370-31T=)
c.1992-31T= (n.1992-31T=)
c.2115-31T= (n.2115-31T=)
c.2091-31T= (n.2091-31T=)
c.1959-31T= (n.1959-31T=)
c.1881-31T= (n.1881-31T=)
n.2401-31T=
5g.56881540T>ACA2673909961MAP3K1c.2370-30T>A (n.2370-30T>A)
c.1992-30T>A (n.1992-30T>A)
c.2115-30T>A (n.2115-30T>A)
c.2091-30T>A (n.2091-30T>A)
c.1959-30T>A (n.1959-30T>A)
c.1881-30T>A (n.1881-30T>A)
n.2401-30T>A
gnomAD v4
5g.56881540_56881545delinsTATATGCA1548139211MAP3K1c.2370-30_2370-25delinsTATATG (n.2370-30_2370-25delinsTATATG)
c.1992-30_1992-25delinsTATATG (n.1992-30_1992-25delinsTATATG)
c.2115-30_2115-25delinsTATATG (n.2115-30_2115-25delinsTATATG)
c.2091-30_2091-25delinsTATATG (n.2091-30_2091-25delinsTATATG)
c.1959-30_1959-25delinsTATATG (n.1959-30_1959-25delinsTATATG)
c.1881-30_1881-25delinsTATATG (n.1881-30_1881-25delinsTATATG)
n.2401-30_2401-25delinsTATATG
5g.56881541A=CA1548139212MAP3K1c.2370-29A= (n.2370-29A=)
c.1992-29A= (n.1992-29A=)
c.2115-29A= (n.2115-29A=)
c.2091-29A= (n.2091-29A=)
c.1959-29A= (n.1959-29A=)
c.1881-29A= (n.1881-29A=)
n.2401-29A=
5g.56881541A>GCA559801341MAP3K1c.2370-29A>G (n.2370-29A>G)
c.1992-29A>G (n.1992-29A>G)
c.2115-29A>G (n.2115-29A>G)
c.2091-29A>G (n.2091-29A>G)
c.1959-29A>G (n.1959-29A>G)
c.1881-29A>G (n.1881-29A>G)
n.2401-29A>G
dbSNP gnomAD v2 gnomAD v4
5g.56881541_56881545delCA559801340MAP3K1c.2370-29_2370-25del (n.2370-29_2370-25del)
c.1992-29_1992-25del (n.1992-29_1992-25del)
c.2115-29_2115-25del (n.2115-29_2115-25del)
c.2091-29_2091-25del (n.2091-29_2091-25del)
c.1959-29_1959-25del (n.1959-29_1959-25del)
c.1881-29_1881-25del (n.1881-29_1881-25del)
n.2401-29_2401-25del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881542T>CCA3272991MAP3K1c.2370-28T>C (n.2370-28T>C)
c.1992-28T>C (n.1992-28T>C)
c.2115-28T>C (n.2115-28T>C)
c.2091-28T>C (n.2091-28T>C)
c.1959-28T>C (n.1959-28T>C)
c.1881-28T>C (n.1881-28T>C)
n.2401-28T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881542T=CA1548139213MAP3K1c.2370-28T= (n.2370-28T=)
c.1992-28T= (n.1992-28T=)
c.2115-28T= (n.2115-28T=)
c.2091-28T= (n.2091-28T=)
c.1959-28T= (n.1959-28T=)
c.1881-28T= (n.1881-28T=)
n.2401-28T=
5g.56881546G>ACA2673909962MAP3K1c.2370-24G>A (n.2370-24G>A)
c.1992-24G>A (n.1992-24G>A)
c.2115-24G>A (n.2115-24G>A)
c.2091-24G>A (n.2091-24G>A)
c.1959-24G>A (n.1959-24G>A)
c.1881-24G>A (n.1881-24G>A)
n.2401-24G>A
gnomAD v4
5g.56881546G>TCA2673909963MAP3K1c.2370-24G>T (n.2370-24G>T)
c.1992-24G>T (n.1992-24G>T)
c.2115-24G>T (n.2115-24G>T)
c.2091-24G>T (n.2091-24G>T)
c.1959-24G>T (n.1959-24G>T)
c.1881-24G>T (n.1881-24G>T)
n.2401-24G>T
dbSNP gnomAD v4
5g.56881547T>CCA812351535MAP3K1c.2370-23T>C (n.2370-23T>C)
c.1992-23T>C (n.1992-23T>C)
c.2115-23T>C (n.2115-23T>C)
c.2091-23T>C (n.2091-23T>C)
c.1959-23T>C (n.1959-23T>C)
c.1881-23T>C (n.1881-23T>C)
n.2401-23T>C
dbSNP
5g.56881547T=CA1548139214MAP3K1c.2370-23T= (n.2370-23T=)
c.1992-23T= (n.1992-23T=)
c.2115-23T= (n.2115-23T=)
c.2091-23T= (n.2091-23T=)
c.1959-23T= (n.1959-23T=)
c.1881-23T= (n.1881-23T=)
n.2401-23T=
5g.56881548A=CA1548139215MAP3K1c.2370-22A= (n.2370-22A=)
c.1992-22A= (n.1992-22A=)
c.2115-22A= (n.2115-22A=)
c.2091-22A= (n.2091-22A=)
c.1959-22A= (n.1959-22A=)
c.1881-22A= (n.1881-22A=)
n.2401-22A=
5g.56881548A>GCA559801342MAP3K1c.2370-22A>G (n.2370-22A>G)
c.1992-22A>G (n.1992-22A>G)
c.2115-22A>G (n.2115-22A>G)
c.2091-22A>G (n.2091-22A>G)
c.1959-22A>G (n.1959-22A>G)
c.1881-22A>G (n.1881-22A>G)
n.2401-22A>G
dbSNP gnomAD v2 gnomAD v4
5g.56881550T>CCA2673909964MAP3K1c.2370-20T>C (n.2370-20T>C)
c.1992-20T>C (n.1992-20T>C)
c.2115-20T>C (n.2115-20T>C)
c.2091-20T>C (n.2091-20T>C)
c.1959-20T>C (n.1959-20T>C)
c.1881-20T>C (n.1881-20T>C)
n.2401-20T>C
gnomAD v4
5g.56881551G>TCA2673909966MAP3K1c.2370-19G>T (n.2370-19G>T)
c.1992-19G>T (n.1992-19G>T)
c.2115-19G>T (n.2115-19G>T)
c.2091-19G>T (n.2091-19G>T)
c.1959-19G>T (n.1959-19G>T)
c.1881-19G>T (n.1881-19G>T)
n.2401-19G>T
gnomAD v4
5g.56881551_56881552delCA2673909965MAP3K1c.2370-19_2370-18del (n.2370-19_2370-18del)
c.1992-19_1992-18del (n.1992-19_1992-18del)
c.2115-19_2115-18del (n.2115-19_2115-18del)
c.2091-19_2091-18del (n.2091-19_2091-18del)
c.1959-19_1959-18del (n.1959-19_1959-18del)
c.1881-19_1881-18del (n.1881-19_1881-18del)
n.2401-19_2401-18del
gnomAD v4
5g.56881552A>CCA2597564318MAP3K1c.2370-18A>C (n.2370-18A>C)
c.1992-18A>C (n.1992-18A>C)
c.2115-18A>C (n.2115-18A>C)
c.2091-18A>C (n.2091-18A>C)
c.1959-18A>C (n.1959-18A>C)
c.1881-18A>C (n.1881-18A>C)
n.2401-18A>C
dbSNP gnomAD v3 gnomAD v4
5g.56881552A>TCA2766565559MAP3K1c.2370-18A>T (n.2370-18A>T)
c.1992-18A>T (n.1992-18A>T)
c.2115-18A>T (n.2115-18A>T)
c.2091-18A>T (n.2091-18A>T)
c.1959-18A>T (n.1959-18A>T)
c.1881-18A>T (n.1881-18A>T)
n.2401-18A>T
5g.56881553A>GCA2580073333MAP3K1c.2370-17A>G (n.2370-17A>G)
c.1992-17A>G (n.1992-17A>G)
c.2115-17A>G (n.2115-17A>G)
c.2091-17A>G (n.2091-17A>G)
c.1959-17A>G (n.1959-17A>G)
c.1881-17A>G (n.1881-17A>G)
n.2401-17A>G
ClinVar gnomAD v4
5g.56881553_56881560delinsATGTTTTTCA1548139216MAP3K1c.2370-17_2370-10delinsATGTTTTT (n.2370-17_2370-10delinsATGTTTTT)
c.1992-17_1992-10delinsATGTTTTT (n.1992-17_1992-10delinsATGTTTTT)
c.2115-17_2115-10delinsATGTTTTT (n.2115-17_2115-10delinsATGTTTTT)
c.2091-17_2091-10delinsATGTTTTT (n.2091-17_2091-10delinsATGTTTTT)
c.1959-17_1959-10delinsATGTTTTT (n.1959-17_1959-10delinsATGTTTTT)
c.1881-17_1881-10delinsATGTTTTT (n.1881-17_1881-10delinsATGTTTTT)
n.2401-17_2401-10delinsATGTTTTT
5g.56881554T>CCA559801343MAP3K1c.2370-16T>C (n.2370-16T>C)
c.1992-16T>C (n.1992-16T>C)
c.2115-16T>C (n.2115-16T>C)
c.2091-16T>C (n.2091-16T>C)
c.1959-16T>C (n.1959-16T>C)
c.1881-16T>C (n.1881-16T>C)
n.2401-16T>C
dbSNP gnomAD v2 gnomAD v4
5g.56881554T=CA1548139217MAP3K1c.2370-16T= (n.2370-16T=)
c.1992-16T= (n.1992-16T=)
c.2115-16T= (n.2115-16T=)
c.2091-16T= (n.2091-16T=)
c.1959-16T= (n.1959-16T=)
c.1881-16T= (n.1881-16T=)
n.2401-16T=
5g.56881555_56881561delCA3272992MAP3K1c.2370-15_2370-9del (n.2370-15_2370-9del)
c.1992-15_1992-9del (n.1992-15_1992-9del)
c.2115-15_2115-9del (n.2115-15_2115-9del)
c.2091-15_2091-9del (n.2091-15_2091-9del)
c.1959-15_1959-9del (n.1959-15_1959-9del)
c.1881-15_1881-9del (n.1881-15_1881-9del)
n.2401-15_2401-9del
dbSNP ExAC gnomAD v2
5g.56881555G=CA1548139218MAP3K1c.2370-15G= (n.2370-15G=)
c.1992-15G= (n.1992-15G=)
c.2115-15G= (n.2115-15G=)
c.2091-15G= (n.2091-15G=)
c.1959-15G= (n.1959-15G=)
c.1881-15G= (n.1881-15G=)
n.2401-15G=
5g.56881555_56881556insCCA1076343133MAP3K1c.2370-15_2370-14insC (n.2370-15_2370-14insC)
c.1992-15_1992-14insC (n.1992-15_1992-14insC)
c.2115-15_2115-14insC (n.2115-15_2115-14insC)
c.2091-15_2091-14insC (n.2091-15_2091-14insC)
c.1959-15_1959-14insC (n.1959-15_1959-14insC)
c.1881-15_1881-14insC (n.1881-15_1881-14insC)
n.2401-15_2401-14insC
dbSNP gnomAD v3 gnomAD v4
5g.56881556T>CCA559801344MAP3K1c.2370-14T>C (n.2370-14T>C)
c.1992-14T>C (n.1992-14T>C)
c.2115-14T>C (n.2115-14T>C)
c.2091-14T>C (n.2091-14T>C)
c.1959-14T>C (n.1959-14T>C)
c.1881-14T>C (n.1881-14T>C)
n.2401-14T>C
dbSNP gnomAD v2 gnomAD v4
5g.56881556T>GCA2673909967MAP3K1c.2370-14T>G (n.2370-14T>G)
c.1992-14T>G (n.1992-14T>G)
c.2115-14T>G (n.2115-14T>G)
c.2091-14T>G (n.2091-14T>G)
c.1959-14T>G (n.1959-14T>G)
c.1881-14T>G (n.1881-14T>G)
n.2401-14T>G
gnomAD v4
5g.56881556T=CA1548139219MAP3K1c.2370-14T= (n.2370-14T=)
c.1992-14T= (n.1992-14T=)
c.2115-14T= (n.2115-14T=)
c.2091-14T= (n.2091-14T=)
c.1959-14T= (n.1959-14T=)
c.1881-14T= (n.1881-14T=)
n.2401-14T=
5g.56881562dupCA3272993MAP3K1c.2370-8dup (n.2370-8dup)
c.1992-8dup (n.1992-8dup)
c.2115-8dup (n.2115-8dup)
c.2091-8dup (n.2091-8dup)
c.1959-8dup (n.1959-8dup)
c.1881-8dup (n.1881-8dup)
n.2401-8dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881558_56881562dupCA1076343134MAP3K1c.2370-12_2370-8dup (n.2370-12_2370-8dup)
c.1992-12_1992-8dup (n.1992-12_1992-8dup)
c.2115-12_2115-8dup (n.2115-12_2115-8dup)
c.2091-12_2091-8dup (n.2091-12_2091-8dup)
c.1959-12_1959-8dup (n.1959-12_1959-8dup)
c.1881-12_1881-8dup (n.1881-12_1881-8dup)
n.2401-12_2401-8dup
gnomAD v3 gnomAD v4
5g.56881556_56881562dupCA2740641249MAP3K1c.2370-14_2370-8dup (n.2370-14_2370-8dup)
c.1992-14_1992-8dup (n.1992-14_1992-8dup)
c.2115-14_2115-8dup (n.2115-14_2115-8dup)
c.2091-14_2091-8dup (n.2091-14_2091-8dup)
c.1959-14_1959-8dup (n.1959-14_1959-8dup)
c.1881-14_1881-8dup (n.1881-14_1881-8dup)
n.2401-14_2401-8dup
5g.56881562delCA2673909968MAP3K1c.2370-8del (n.2370-8del)
c.1992-8del (n.1992-8del)
c.2115-8del (n.2115-8del)
c.2091-8del (n.2091-8del)
c.1959-8del (n.1959-8del)
c.1881-8del (n.1881-8del)
n.2401-8del
dbSNP gnomAD v4
5g.56881557T>GCA559801345MAP3K1c.2370-13T>G (n.2370-13T>G)
c.1992-13T>G (n.1992-13T>G)
c.2115-13T>G (n.2115-13T>G)
c.2091-13T>G (n.2091-13T>G)
c.1959-13T>G (n.1959-13T>G)
c.1881-13T>G (n.1881-13T>G)
n.2401-13T>G
dbSNP gnomAD v2
5g.56881557T=CA1548139220MAP3K1c.2370-13T= (n.2370-13T=)
c.1992-13T= (n.1992-13T=)
c.2115-13T= (n.2115-13T=)
c.2091-13T= (n.2091-13T=)
c.1959-13T= (n.1959-13T=)
c.1881-13T= (n.1881-13T=)
n.2401-13T=
5g.56881558T>CCA2673909969MAP3K1c.2370-12T>C (n.2370-12T>C)
c.1992-12T>C (n.1992-12T>C)
c.2115-12T>C (n.2115-12T>C)
c.2091-12T>C (n.2091-12T>C)
c.1959-12T>C (n.1959-12T>C)
c.1881-12T>C (n.1881-12T>C)
n.2401-12T>C
gnomAD v4
5g.56881558T>GCA559801346MAP3K1c.2370-12T>G (n.2370-12T>G)
c.1992-12T>G (n.1992-12T>G)
c.2115-12T>G (n.2115-12T>G)
c.2091-12T>G (n.2091-12T>G)
c.1959-12T>G (n.1959-12T>G)
c.1881-12T>G (n.1881-12T>G)
n.2401-12T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881558T=CA1548139221MAP3K1c.2370-12T= (n.2370-12T=)
c.1992-12T= (n.1992-12T=)
c.2115-12T= (n.2115-12T=)
c.2091-12T= (n.2091-12T=)
c.1959-12T= (n.1959-12T=)
c.1881-12T= (n.1881-12T=)
n.2401-12T=
5g.56881559T>CCA1076343139MAP3K1c.2370-11T>C (n.2370-11T>C)
c.1992-11T>C (n.1992-11T>C)
c.2115-11T>C (n.2115-11T>C)
c.2091-11T>C (n.2091-11T>C)
c.1959-11T>C (n.1959-11T>C)
c.1881-11T>C (n.1881-11T>C)
n.2401-11T>C
dbSNP gnomAD v3 gnomAD v4
5g.56881559T=CA1548139222MAP3K1c.2370-11T= (n.2370-11T=)
c.1992-11T= (n.1992-11T=)
c.2115-11T= (n.2115-11T=)
c.2091-11T= (n.2091-11T=)
c.1959-11T= (n.1959-11T=)
c.1881-11T= (n.1881-11T=)
n.2401-11T=
5g.56881561T>CCA2673909970MAP3K1c.2370-9T>C (n.2370-9T>C)
c.1992-9T>C (n.1992-9T>C)
c.2115-9T>C (n.2115-9T>C)
c.2091-9T>C (n.2091-9T>C)
c.1959-9T>C (n.1959-9T>C)
c.1881-9T>C (n.1881-9T>C)
n.2401-9T>C
gnomAD v4
5g.56881563C=CA1548139223MAP3K1c.2370-7C= (n.2370-7C=)
c.1992-7C= (n.1992-7C=)
c.2115-7C= (n.2115-7C=)
c.2091-7C= (n.2091-7C=)
c.1959-7C= (n.1959-7C=)
c.1881-7C= (n.1881-7C=)
n.2401-7C=
5g.56881563C>TCA559801347MAP3K1c.2370-7C>T (n.2370-7C>T)
c.1992-7C>T (n.1992-7C>T)
c.2115-7C>T (n.2115-7C>T)
c.2091-7C>T (n.2091-7C>T)
c.1959-7C>T (n.1959-7C>T)
c.1881-7C>T (n.1881-7C>T)
n.2401-7C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881564T>CCA2673909971MAP3K1c.2370-6T>C (n.2370-6T>C)
c.1992-6T>C (n.1992-6T>C)
c.2115-6T>C (n.2115-6T>C)
c.2091-6T>C (n.2091-6T>C)
c.1959-6T>C (n.1959-6T>C)
c.1881-6T>C (n.1881-6T>C)
n.2401-6T>C
gnomAD v4
5g.56881566T>ACA2673909972MAP3K1c.2370-4T>A (n.2370-4T>A)
c.1992-4T>A (n.1992-4T>A)
c.2115-4T>A (n.2115-4T>A)
c.2091-4T>A (n.2091-4T>A)
c.1959-4T>A (n.1959-4T>A)
c.1881-4T>A (n.1881-4T>A)
n.2401-4T>A
gnomAD v4
5g.56881566T>CCA559801348MAP3K1c.2370-4T>C (n.2370-4T>C)
c.1992-4T>C (n.1992-4T>C)
c.2115-4T>C (n.2115-4T>C)
c.2091-4T>C (n.2091-4T>C)
c.1959-4T>C (n.1959-4T>C)
c.1881-4T>C (n.1881-4T>C)
n.2401-4T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881566T=CA1548139224MAP3K1c.2370-4T= (n.2370-4T=)
c.1992-4T= (n.1992-4T=)
c.2115-4T= (n.2115-4T=)
c.2091-4T= (n.2091-4T=)
c.1959-4T= (n.1959-4T=)
c.1881-4T= (n.1881-4T=)
n.2401-4T=
5g.56881566_56881570delinsTCAGGCA1548139225MAP3K1c.2370-4_2370delinsTCAGG
c.1992-4_1992delinsTCAGG
c.2115-4_2115delinsTCAGG
c.2091-4_2091delinsTCAGG
c.1959-4_1959delinsTCAGG
c.1881-4_1881delinsTCAGG
n.2401-4_2401delinsTCAGG
5g.56881567C>ACA2673909973MAP3K1c.2370-3C>A (n.2370-3C>A)
c.1992-3C>A (n.1992-3C>A)
c.2115-3C>A (n.2115-3C>A)
c.2091-3C>A (n.2091-3C>A)
c.1959-3C>A (n.1959-3C>A)
c.1881-3C>A (n.1881-3C>A)
n.2401-3C>A
gnomAD v4
5g.56881567C>GCA2708982763MAP3K1c.2370-3C>G (n.2370-3C>G)
c.1992-3C>G (n.1992-3C>G)
c.2115-3C>G (n.2115-3C>G)
c.2091-3C>G (n.2091-3C>G)
c.1959-3C>G (n.1959-3C>G)
c.1881-3C>G (n.1881-3C>G)
n.2401-3C>G
dbSNP
5g.56881567C>TCA2673909974MAP3K1c.2370-3C>T (n.2370-3C>T)
c.1992-3C>T (n.1992-3C>T)
c.2115-3C>T (n.2115-3C>T)
c.2091-3C>T (n.2091-3C>T)
c.1959-3C>T (n.1959-3C>T)
c.1881-3C>T (n.1881-3C>T)
n.2401-3C>T
gnomAD v4
5g.56881567_56881570delCA559801349MAP3K1c.2370-3_2370del
c.1992-3_1992del
c.2115-3_2115del
c.2091-3_2091del
c.1959-3_1959del
c.1881-3_1881del
n.2401-3_2401del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881568A>CCA359785642MAP3K1c.2370-2A>C (n.2370-2A>C)
c.1992-2A>C (n.1992-2A>C)
c.2115-2A>C (n.2115-2A>C)
c.2091-2A>C (n.2091-2A>C)
c.1959-2A>C (n.1959-2A>C)
c.1881-2A>C (n.1881-2A>C)
n.2401-2A>C
5g.56881568A>GCA359785643MAP3K1c.2370-2A>G (n.2370-2A>G)
c.1992-2A>G (n.1992-2A>G)
c.2115-2A>G (n.2115-2A>G)
c.2091-2A>G (n.2091-2A>G)
c.1959-2A>G (n.1959-2A>G)
c.1881-2A>G (n.1881-2A>G)
n.2401-2A>G
5g.56881568A>TCA359785644MAP3K1c.2370-2A>T (n.2370-2A>T)
c.1992-2A>T (n.1992-2A>T)
c.2115-2A>T (n.2115-2A>T)
c.2091-2A>T (n.2091-2A>T)
c.1959-2A>T (n.1959-2A>T)
c.1881-2A>T (n.1881-2A>T)
n.2401-2A>T
5g.56881569G>ACA359785645MAP3K1c.2370-1G>A (n.2370-1G>A)
c.1992-1G>A (n.1992-1G>A)
c.2115-1G>A (n.2115-1G>A)
c.2091-1G>A (n.2091-1G>A)
c.1959-1G>A (n.1959-1G>A)
c.1881-1G>A (n.1881-1G>A)
n.2401-1G>A
5g.56881569G>CCA359785646MAP3K1c.2370-1G>C (n.2370-1G>C)
c.1992-1G>C (n.1992-1G>C)
c.2115-1G>C (n.2115-1G>C)
c.2091-1G>C (n.2091-1G>C)
c.1959-1G>C (n.1959-1G>C)
c.1881-1G>C (n.1881-1G>C)
n.2401-1G>C
5g.56881569G>TCA359785647MAP3K1c.2370-1G>T (n.2370-1G>T)
c.1992-1G>T (n.1992-1G>T)
c.2115-1G>T (n.2115-1G>T)
c.2091-1G>T (n.2091-1G>T)
c.1959-1G>T (n.1959-1G>T)
c.1881-1G>T (n.1881-1G>T)
n.2401-1G>T
5g.56881570dupCA645557006MAP3K1c.2370dup
c.1992dup
c.2115dup
c.2091dup
c.1959dup
c.1881dup
n.2401dup
COSMIC
5g.56881570G>ACA119078981MAP3K1c.2370G>A (p.Arg790=)
c.1992G>A (p.Arg664=)
c.2115G>A (p.Arg705=)
c.2091G>A (p.Arg697=)
c.1959G>A (p.Arg653=)
c.1881G>A (p.Arg627=)
n.2401G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881570G>CCA359785648MAP3K1c.2370G>C (p.Arg790Ser)
c.1992G>C (p.Arg664Ser)
c.2115G>C (p.Arg705Ser)
c.2091G>C (p.Arg697Ser)
c.1959G>C (p.Arg653Ser)
c.1881G>C (p.Arg627Ser)
n.2401G>C
5g.56881570G=CA1548139226MAP3K1c.2370G= (p.Arg790=)
c.1992G= (p.Arg664=)
c.2115G= (p.Arg705=)
c.2091G= (p.Arg697=)
c.1959G= (p.Arg653=)
c.1881G= (p.Arg627=)
n.2401G=
5g.56881570G>TCA359785649MAP3K1c.2370G>T (p.Arg790Ser)
c.1992G>T (p.Arg664Ser)
c.2115G>T (p.Arg705Ser)
c.2091G>T (p.Arg697Ser)
c.1959G>T (p.Arg653Ser)
c.1881G>T (p.Arg627Ser)
n.2401G>T
dbSNP
5g.56881571T>ACA359785650MAP3K1c.2371T>A (p.Tyr791Asn)
c.1993T>A (p.Tyr665Asn)
c.2116T>A (p.Tyr706Asn)
c.2092T>A (p.Tyr698Asn)
c.1960T>A (p.Tyr654Asn)
c.1882T>A (p.Tyr628Asn)
n.2402T>A
5g.56881571T>CCA359785651MAP3K1c.2371T>C (p.Tyr791His)
c.1993T>C (p.Tyr665His)
c.2116T>C (p.Tyr706His)
c.2092T>C (p.Tyr698His)
c.1960T>C (p.Tyr654His)
c.1882T>C (p.Tyr628His)
n.2402T>C
gnomAD v4
5g.56881571T>GCA359785652MAP3K1c.2371T>G (p.Tyr791Asp)
c.1993T>G (p.Tyr665Asp)
c.2116T>G (p.Tyr706Asp)
c.2092T>G (p.Tyr698Asp)
c.1960T>G (p.Tyr654Asp)
c.1882T>G (p.Tyr628Asp)
n.2402T>G
5g.56881571_56881572insTTTTCA559801350MAP3K1c.2371_2372insTTTT (p.Tyr791PhefsTer3)
c.1993_1994insTTTT (p.Tyr665PhefsTer3)
c.2116_2117insTTTT (p.Tyr706PhefsTer3)
c.2092_2093insTTTT (p.Tyr698PhefsTer3)
c.1960_1961insTTTT (p.Tyr654PhefsTer3)
c.1882_1883insTTTT (p.Tyr628PhefsTer3)
n.2402_2403insTTTT
dbSNP gnomAD v2
5g.56881572A=CA1548139227MAP3K1c.2372A= (p.Tyr791=)
c.1994A= (p.Tyr665=)
c.2117A= (p.Tyr706=)
c.2093A= (p.Tyr698=)
c.1961A= (p.Tyr654=)
c.1883A= (p.Tyr628=)
n.2403A=
5g.56881572A>CCA359785654MAP3K1c.2372A>C (p.Tyr791Ser)
c.1994A>C (p.Tyr665Ser)
c.2117A>C (p.Tyr706Ser)
c.2093A>C (p.Tyr698Ser)
c.1961A>C (p.Tyr654Ser)
c.1883A>C (p.Tyr628Ser)
n.2403A>C
5g.56881572A>GCA359785655MAP3K1c.2372A>G (p.Tyr791Cys)
c.1994A>G (p.Tyr665Cys)
c.2117A>G (p.Tyr706Cys)
c.2093A>G (p.Tyr698Cys)
c.1961A>G (p.Tyr654Cys)
c.1883A>G (p.Tyr628Cys)
n.2403A>G
gnomAD v4
5g.56881572A>TCA359785653MAP3K1c.2372A>T (p.Tyr791Phe)
c.1994A>T (p.Tyr665Phe)
c.2117A>T (p.Tyr706Phe)
c.2093A>T (p.Tyr698Phe)
c.1961A>T (p.Tyr654Phe)
c.1883A>T (p.Tyr628Phe)
n.2403A>T
dbSNP gnomAD v2 gnomAD v4
5g.56881573T>ACA359785656MAP3K1c.2373T>A (p.Tyr791Ter)
c.1995T>A (p.Tyr665Ter)
c.2118T>A (p.Tyr706Ter)
c.2094T>A (p.Tyr698Ter)
c.1962T>A (p.Tyr654Ter)
c.1884T>A (p.Tyr628Ter)
n.2404T>A
5g.56881573T>CCA444216994MAP3K1c.2373T>C (p.Tyr791=)
c.1995T>C (p.Tyr665=)
c.2118T>C (p.Tyr706=)
c.2094T>C (p.Tyr698=)
c.1962T>C (p.Tyr654=)
c.1884T>C (p.Tyr628=)
n.2404T>C
5g.56881573T>GCA359785657MAP3K1c.2373T>G (p.Tyr791Ter)
c.1995T>G (p.Tyr665Ter)
c.2118T>G (p.Tyr706Ter)
c.2094T>G (p.Tyr698Ter)
c.1962T>G (p.Tyr654Ter)
c.1884T>G (p.Tyr628Ter)
n.2404T>G
5g.56881574A>CCA359785658MAP3K1c.2374A>C (p.Lys792Gln)
c.1996A>C (p.Lys666Gln)
c.2119A>C (p.Lys707Gln)
c.2095A>C (p.Lys699Gln)
c.1963A>C (p.Lys655Gln)
c.1885A>C (p.Lys629Gln)
n.2405A>C
5g.56881574A>GCA359785659MAP3K1c.2374A>G (p.Lys792Glu)
c.1996A>G (p.Lys666Glu)
c.2119A>G (p.Lys707Glu)
c.2095A>G (p.Lys699Glu)
c.1963A>G (p.Lys655Glu)
c.1885A>G (p.Lys629Glu)
n.2405A>G
5g.56881574A>TCA359785660MAP3K1c.2374A>T (p.Lys792Ter)
c.1996A>T (p.Lys666Ter)
c.2119A>T (p.Lys707Ter)
c.2095A>T (p.Lys699Ter)
c.1963A>T (p.Lys655Ter)
c.1885A>T (p.Lys629Ter)
n.2405A>T
5g.56881575A=CA1548139228MAP3K1c.2375A= (p.Lys792=)
c.1997A= (p.Lys666=)
c.2120A= (p.Lys707=)
c.2096A= (p.Lys699=)
c.1964A= (p.Lys655=)
c.1886A= (p.Lys629=)
n.2406A=
5g.56881575A>CCA359785663MAP3K1c.2375A>C (p.Lys792Thr)
c.1997A>C (p.Lys666Thr)
c.2120A>C (p.Lys707Thr)
c.2096A>C (p.Lys699Thr)
c.1964A>C (p.Lys655Thr)
c.1886A>C (p.Lys629Thr)
n.2406A>C
5g.56881575A>GCA359785661MAP3K1c.2375A>G (p.Lys792Arg)
c.1997A>G (p.Lys666Arg)
c.2120A>G (p.Lys707Arg)
c.2096A>G (p.Lys699Arg)
c.1964A>G (p.Lys655Arg)
c.1886A>G (p.Lys629Arg)
n.2406A>G
dbSNP gnomAD v4
5g.56881575A>TCA359785662MAP3K1c.2375A>T (p.Lys792Met)
c.1997A>T (p.Lys666Met)
c.2120A>T (p.Lys707Met)
c.2096A>T (p.Lys699Met)
c.1964A>T (p.Lys655Met)
c.1886A>T (p.Lys629Met)
n.2406A>T
5g.56881576G>ACA444217008MAP3K1c.2376G>A (p.Lys792=)
c.1998G>A (p.Lys666=)
c.2121G>A (p.Lys707=)
c.2097G>A (p.Lys699=)
c.1965G>A (p.Lys655=)
c.1887G>A (p.Lys629=)
n.2407G>A
5g.56881576G>CCA359785664MAP3K1c.2376G>C (p.Lys792Asn)
c.1998G>C (p.Lys666Asn)
c.2121G>C (p.Lys707Asn)
c.2097G>C (p.Lys699Asn)
c.1965G>C (p.Lys655Asn)
c.1887G>C (p.Lys629Asn)
n.2407G>C
5g.56881576G>TCA359785665MAP3K1c.2376G>T (p.Lys792Asn)
c.1998G>T (p.Lys666Asn)
c.2121G>T (p.Lys707Asn)
c.2097G>T (p.Lys699Asn)
c.1965G>T (p.Lys655Asn)
c.1887G>T (p.Lys629Asn)
n.2407G>T
5g.56881577A>CCA359785666MAP3K1c.2377A>C (p.Lys793Gln)
c.1999A>C (p.Lys667Gln)
c.2122A>C (p.Lys708Gln)
c.2098A>C (p.Lys700Gln)
c.1966A>C (p.Lys656Gln)
c.1888A>C (p.Lys630Gln)
n.2408A>C
5g.56881577A>GCA359785667MAP3K1c.2377A>G (p.Lys793Glu)
c.1999A>G (p.Lys667Glu)
c.2122A>G (p.Lys708Glu)
c.2098A>G (p.Lys700Glu)
c.1966A>G (p.Lys656Glu)
c.1888A>G (p.Lys630Glu)
n.2408A>G
5g.56881577A>TCA359785668MAP3K1c.2377A>T (p.Lys793Ter)
c.1999A>T (p.Lys667Ter)
c.2122A>T (p.Lys708Ter)
c.2098A>T (p.Lys700Ter)
c.1966A>T (p.Lys656Ter)
c.1888A>T (p.Lys630Ter)
n.2408A>T
5g.56881578delCA2766565560MAP3K1c.2378del (p.Lys793SerfsTer6)
c.2000del (p.Lys667SerfsTer6)
c.2123del (p.Lys708SerfsTer6)
c.2099del (p.Lys700SerfsTer6)
c.1967del (p.Lys656SerfsTer6)
c.1889del (p.Lys630SerfsTer6)
n.2409del
5g.56881578A>CCA359785669MAP3K1c.2378A>C (p.Lys793Thr)
c.2000A>C (p.Lys667Thr)
c.2123A>C (p.Lys708Thr)
c.2099A>C (p.Lys700Thr)
c.1967A>C (p.Lys656Thr)
c.1889A>C (p.Lys630Thr)
n.2409A>C
5g.56881578A>GCA359785671MAP3K1c.2378A>G (p.Lys793Arg)
c.2000A>G (p.Lys667Arg)
c.2123A>G (p.Lys708Arg)
c.2099A>G (p.Lys700Arg)
c.1967A>G (p.Lys656Arg)
c.1889A>G (p.Lys630Arg)
n.2409A>G
5g.56881578A>TCA359785670MAP3K1c.2378A>T (p.Lys793Met)
c.2000A>T (p.Lys667Met)
c.2123A>T (p.Lys708Met)
c.2099A>T (p.Lys700Met)
c.1967A>T (p.Lys656Met)
c.1889A>T (p.Lys630Met)
n.2409A>T
5g.56881579G>ACA444217023MAP3K1c.2379G>A (p.Lys793=)
c.2001G>A (p.Lys667=)
c.2124G>A (p.Lys708=)
c.2100G>A (p.Lys700=)
c.1968G>A (p.Lys656=)
c.1890G>A (p.Lys630=)
n.2410G>A
gnomAD v4
5g.56881579G>CCA359785672MAP3K1c.2379G>C (p.Lys793Asn)
c.2001G>C (p.Lys667Asn)
c.2124G>C (p.Lys708Asn)
c.2100G>C (p.Lys700Asn)
c.1968G>C (p.Lys656Asn)
c.1890G>C (p.Lys630Asn)
n.2410G>C
5g.56881579G>TCA359785673MAP3K1c.2379G>T (p.Lys793Asn)
c.2001G>T (p.Lys667Asn)
c.2124G>T (p.Lys708Asn)
c.2100G>T (p.Lys700Asn)
c.1968G>T (p.Lys656Asn)
c.1890G>T (p.Lys630Asn)
n.2410G>T
5g.56881580C>ACA359785674MAP3K1c.2380C>A (p.Leu794Met)
c.2002C>A (p.Leu668Met)
c.2125C>A (p.Leu709Met)
c.2101C>A (p.Leu701Met)
c.1969C>A (p.Leu657Met)
c.1891C>A (p.Leu631Met)
n.2411C>A
dbSNP gnomAD v4
5g.56881580C>GCA359785675MAP3K1c.2380C>G (p.Leu794Val)
c.2002C>G (p.Leu668Val)
c.2125C>G (p.Leu709Val)
c.2101C>G (p.Leu701Val)
c.1969C>G (p.Leu657Val)
c.1891C>G (p.Leu631Val)
n.2411C>G
ClinVar
5g.56881580C>TCA444217029MAP3K1c.2380C>T (p.Leu794=)
c.2002C>T (p.Leu668=)
c.2125C>T (p.Leu709=)
c.2101C>T (p.Leu701=)
c.1969C>T (p.Leu657=)
c.1891C>T (p.Leu631=)
n.2411C>T
5g.56881581T>ACA3272994MAP3K1c.2381T>A (p.Leu794Gln)
c.2003T>A (p.Leu668Gln)
c.2126T>A (p.Leu709Gln)
c.2102T>A (p.Leu701Gln)
c.1970T>A (p.Leu657Gln)
c.1892T>A (p.Leu631Gln)
n.2412T>A
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881581T>CCA359785676MAP3K1c.2381T>C (p.Leu794Pro)
c.2003T>C (p.Leu668Pro)
c.2126T>C (p.Leu709Pro)
c.2102T>C (p.Leu701Pro)
c.1970T>C (p.Leu657Pro)
c.1892T>C (p.Leu631Pro)
n.2412T>C
5g.56881581T>GCA359785677MAP3K1c.2381T>G (p.Leu794Arg)
c.2003T>G (p.Leu668Arg)
c.2126T>G (p.Leu709Arg)
c.2102T>G (p.Leu701Arg)
c.1970T>G (p.Leu657Arg)
c.1892T>G (p.Leu631Arg)
n.2412T>G
5g.56881581T=CA1548139229MAP3K1c.2381T= (p.Leu794=)
c.2003T= (p.Leu668=)
c.2126T= (p.Leu709=)
c.2102T= (p.Leu701=)
c.1970T= (p.Leu657=)
c.1892T= (p.Leu631=)
n.2412T=
5g.56881582G>ACA444217041MAP3K1c.2382G>A (p.Leu794=)
c.2004G>A (p.Leu668=)
c.2127G>A (p.Leu709=)
c.2103G>A (p.Leu701=)
c.1971G>A (p.Leu657=)
c.1893G>A (p.Leu631=)
n.2413G>A
gnomAD v4
5g.56881582G>CCA444217043MAP3K1c.2382G>C (p.Leu794=)
c.2004G>C (p.Leu668=)
c.2127G>C (p.Leu709=)
c.2103G>C (p.Leu701=)
c.1971G>C (p.Leu657=)
c.1893G>C (p.Leu631=)
n.2413G>C
5g.56881582G=CA1548139230MAP3K1c.2382G= (p.Leu794=)
c.2004G= (p.Leu668=)
c.2127G= (p.Leu709=)
c.2103G= (p.Leu701=)
c.1971G= (p.Leu657=)
c.1893G= (p.Leu631=)
n.2413G=
5g.56881582G>TCA444217046MAP3K1c.2382G>T (p.Leu794=)
c.2004G>T (p.Leu668=)
c.2127G>T (p.Leu709=)
c.2103G>T (p.Leu701=)
c.1971G>T (p.Leu657=)
c.1893G>T (p.Leu631=)
n.2413G>T
dbSNP
5g.56881583C>ACA359785678MAP3K1c.2383C>A (p.Leu795Met)
c.2005C>A (p.Leu669Met)
c.2128C>A (p.Leu710Met)
c.2104C>A (p.Leu702Met)
c.1972C>A (p.Leu658Met)
c.1894C>A (p.Leu632Met)
n.2414C>A
5g.56881583C>GCA359785679MAP3K1c.2383C>G (p.Leu795Val)
c.2005C>G (p.Leu669Val)
c.2128C>G (p.Leu710Val)
c.2104C>G (p.Leu702Val)
c.1972C>G (p.Leu658Val)
c.1894C>G (p.Leu632Val)
n.2414C>G
5g.56881583C>TCA444217050MAP3K1c.2383C>T (p.Leu795=)
c.2005C>T (p.Leu669=)
c.2128C>T (p.Leu710=)
c.2104C>T (p.Leu702=)
c.1972C>T (p.Leu658=)
c.1894C>T (p.Leu632=)
n.2414C>T
dbSNP
5g.56881584T>ACA359785680MAP3K1c.2384T>A (p.Leu795Gln)
c.2006T>A (p.Leu669Gln)
c.2129T>A (p.Leu710Gln)
c.2105T>A (p.Leu702Gln)
c.1973T>A (p.Leu658Gln)
c.1895T>A (p.Leu632Gln)
n.2415T>A
5g.56881584T>CCA359785681MAP3K1c.2384T>C (p.Leu795Pro)
c.2006T>C (p.Leu669Pro)
c.2129T>C (p.Leu710Pro)
c.2105T>C (p.Leu702Pro)
c.1973T>C (p.Leu658Pro)
c.1895T>C (p.Leu632Pro)
n.2415T>C
gnomAD v4
5g.56881584T>GCA359785682MAP3K1c.2384T>G (p.Leu795Arg)
c.2006T>G (p.Leu669Arg)
c.2129T>G (p.Leu710Arg)
c.2105T>G (p.Leu702Arg)
c.1973T>G (p.Leu658Arg)
c.1895T>G (p.Leu632Arg)
n.2415T>G
5g.56881584dupCA444399017MAP3K1c.2384dup (p.Ser796ValfsTer11)
c.2006dup (p.Ser670ValfsTer11)
c.2129dup (p.Ser711ValfsTer11)
c.2105dup (p.Ser703ValfsTer11)
c.1973dup (p.Ser659ValfsTer11)
c.1895dup (p.Ser633ValfsTer11)
n.2415dup
COSMIC
5g.56881585G>ACA444399019MAP3K1c.2385G>A (p.Leu795=)
c.2007G>A (p.Leu669=)
c.2130G>A (p.Leu710=)
c.2106G>A (p.Leu702=)
c.1974G>A (p.Leu658=)
c.1896G>A (p.Leu632=)
n.2416G>A
5g.56881585G>CCA3272995MAP3K1c.2385G>C (p.Leu795=)
c.2007G>C (p.Leu669=)
c.2130G>C (p.Leu710=)
c.2106G>C (p.Leu702=)
c.1974G>C (p.Leu658=)
c.1896G>C (p.Leu632=)
n.2416G>C
dbSNP ExAC gnomAD v4
5g.56881585G=CA1548139231MAP3K1c.2385G= (p.Leu795=)
c.2007G= (p.Leu669=)
c.2130G= (p.Leu710=)
c.2106G= (p.Leu702=)
c.1974G= (p.Leu658=)
c.1896G= (p.Leu632=)
n.2416G=
5g.56881585G>TCA444399021MAP3K1c.2385G>T (p.Leu795=)
c.2007G>T (p.Leu669=)
c.2130G>T (p.Leu710=)
c.2106G>T (p.Leu702=)
c.1974G>T (p.Leu658=)
c.1896G>T (p.Leu632=)
n.2416G>T
gnomAD v4
5g.56881586T>ACA359785685MAP3K1c.2386T>A (p.Ser796Thr)
c.2008T>A (p.Ser670Thr)
c.2131T>A (p.Ser711Thr)
c.2107T>A (p.Ser703Thr)
c.1975T>A (p.Ser659Thr)
c.1897T>A (p.Ser633Thr)
n.2417T>A
gnomAD v4
5g.56881586T>CCA359785684MAP3K1c.2386T>C (p.Ser796Pro)
c.2008T>C (p.Ser670Pro)
c.2131T>C (p.Ser711Pro)
c.2107T>C (p.Ser703Pro)
c.1975T>C (p.Ser659Pro)
c.1897T>C (p.Ser633Pro)
n.2417T>C
5g.56881586T>GCA359785683MAP3K1c.2386T>G (p.Ser796Ala)
c.2008T>G (p.Ser670Ala)
c.2131T>G (p.Ser711Ala)
c.2107T>G (p.Ser703Ala)
c.1975T>G (p.Ser659Ala)
c.1897T>G (p.Ser633Ala)
n.2417T>G
5g.56881587C>ACA359785686MAP3K1c.2387C>A (p.Ser796Tyr)
c.2009C>A (p.Ser670Tyr)
c.2132C>A (p.Ser711Tyr)
c.2108C>A (p.Ser703Tyr)
c.1976C>A (p.Ser659Tyr)
c.1898C>A (p.Ser633Tyr)
n.2418C>A
gnomAD v4
5g.56881587C=CA1548139232MAP3K1c.2387C= (p.Ser796=)
c.2009C= (p.Ser670=)
c.2132C= (p.Ser711=)
c.2108C= (p.Ser703=)
c.1976C= (p.Ser659=)
c.1898C= (p.Ser633=)
n.2418C=
5g.56881587C>GCA359785687MAP3K1c.2387C>G (p.Ser796Cys)
c.2009C>G (p.Ser670Cys)
c.2132C>G (p.Ser711Cys)
c.2108C>G (p.Ser703Cys)
c.1976C>G (p.Ser659Cys)
c.1898C>G (p.Ser633Cys)
n.2418C>G
5g.56881587C>TCA359785688MAP3K1c.2387C>T (p.Ser796Phe)
c.2009C>T (p.Ser670Phe)
c.2132C>T (p.Ser711Phe)
c.2108C>T (p.Ser703Phe)
c.1976C>T (p.Ser659Phe)
c.1898C>T (p.Ser633Phe)
n.2418C>T
dbSNP gnomAD v3 gnomAD v4
5g.56881588C>ACA444399023MAP3K1c.2388C>A (p.Ser796=)
c.2010C>A (p.Ser670=)
c.2133C>A (p.Ser711=)
c.2109C>A (p.Ser703=)
c.1977C>A (p.Ser659=)
c.1899C>A (p.Ser633=)
n.2419C>A
5g.56881588C=CA1548139233MAP3K1c.2388C= (p.Ser796=)
c.2010C= (p.Ser670=)
c.2133C= (p.Ser711=)
c.2109C= (p.Ser703=)
c.1977C= (p.Ser659=)
c.1899C= (p.Ser633=)
n.2419C=
5g.56881588C>GCA444399024MAP3K1c.2388C>G (p.Ser796=)
c.2010C>G (p.Ser670=)
c.2133C>G (p.Ser711=)
c.2109C>G (p.Ser703=)
c.1977C>G (p.Ser659=)
c.1899C>G (p.Ser633=)
n.2419C>G
5g.56881588C>TCA3272996MAP3K1c.2388C>T (p.Ser796=)
c.2010C>T (p.Ser670=)
c.2133C>T (p.Ser711=)
c.2109C>T (p.Ser703=)
c.1977C>T (p.Ser659=)
c.1899C>T (p.Ser633=)
n.2419C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881589C>ACA359785689MAP3K1c.2389C>A (p.Leu797Ile)
c.2011C>A (p.Leu671Ile)
c.2134C>A (p.Leu712Ile)
c.2110C>A (p.Leu704Ile)
c.1978C>A (p.Leu660Ile)
c.1900C>A (p.Leu634Ile)
n.2420C>A
5g.56881589C=CA1548139234MAP3K1c.2389C= (p.Leu797=)
c.2011C= (p.Leu671=)
c.2134C= (p.Leu712=)
c.2110C= (p.Leu704=)
c.1978C= (p.Leu660=)
c.1900C= (p.Leu634=)
n.2420C=
5g.56881589C>GCA359785690MAP3K1c.2389C>G (p.Leu797Val)
c.2011C>G (p.Leu671Val)
c.2134C>G (p.Leu712Val)
c.2110C>G (p.Leu704Val)
c.1978C>G (p.Leu660Val)
c.1900C>G (p.Leu634Val)
n.2420C>G
5g.56881589C>TCA3272997MAP3K1c.2389C>T (p.Leu797Phe)
c.2011C>T (p.Leu671Phe)
c.2134C>T (p.Leu712Phe)
c.2110C>T (p.Leu704Phe)
c.1978C>T (p.Leu660Phe)
c.1900C>T (p.Leu634Phe)
n.2420C>T
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881590T>ACA359785691MAP3K1c.2390T>A (p.Leu797His)
c.2012T>A (p.Leu671His)
c.2135T>A (p.Leu712His)
c.2111T>A (p.Leu704His)
c.1979T>A (p.Leu660His)
c.1901T>A (p.Leu634His)
n.2421T>A
5g.56881590T>CCA359785692MAP3K1c.2390T>C (p.Leu797Pro)
c.2012T>C (p.Leu671Pro)
c.2135T>C (p.Leu712Pro)
c.2111T>C (p.Leu704Pro)
c.1979T>C (p.Leu660Pro)
c.1901T>C (p.Leu634Pro)
n.2421T>C
5g.56881590T>GCA359785693MAP3K1c.2390T>G (p.Leu797Arg)
c.2012T>G (p.Leu671Arg)
c.2135T>G (p.Leu712Arg)
c.2111T>G (p.Leu704Arg)
c.1979T>G (p.Leu660Arg)
c.1901T>G (p.Leu634Arg)
n.2421T>G
5g.56881591C>ACA444399028MAP3K1c.2391C>A (p.Leu797=)
c.2013C>A (p.Leu671=)
c.2136C>A (p.Leu712=)
c.2112C>A (p.Leu704=)
c.1980C>A (p.Leu660=)
c.1902C>A (p.Leu634=)
n.2422C>A
5g.56881591C=CA1548139235MAP3K1c.2391C= (p.Leu797=)
c.2013C= (p.Leu671=)
c.2136C= (p.Leu712=)
c.2112C= (p.Leu704=)
c.1980C= (p.Leu660=)
c.1902C= (p.Leu634=)
n.2422C=
5g.56881591C>GCA444399029MAP3K1c.2391C>G (p.Leu797=)
c.2013C>G (p.Leu671=)
c.2136C>G (p.Leu712=)
c.2112C>G (p.Leu704=)
c.1980C>G (p.Leu660=)
c.1902C>G (p.Leu634=)
n.2422C>G
dbSNP gnomAD v3 gnomAD v4
5g.56881591C>TCA444399030MAP3K1c.2391C>T (p.Leu797=)
c.2013C>T (p.Leu671=)
c.2136C>T (p.Leu712=)
c.2112C>T (p.Leu704=)
c.1980C>T (p.Leu660=)
c.1902C>T (p.Leu634=)
n.2422C>T
5g.56881592T>ACA359785694MAP3K1c.2392T>A (p.Leu798Ile)
c.2014T>A (p.Leu672Ile)
c.2137T>A (p.Leu713Ile)
c.2113T>A (p.Leu705Ile)
c.1981T>A (p.Leu661Ile)
c.1903T>A (p.Leu635Ile)
n.2423T>A
gnomAD v4
5g.56881592T>CCA444399031MAP3K1c.2392T>C (p.Leu798=)
c.2014T>C (p.Leu672=)
c.2137T>C (p.Leu713=)
c.2113T>C (p.Leu705=)
c.1981T>C (p.Leu661=)
c.1903T>C (p.Leu635=)
n.2423T>C
5g.56881592T>GCA359785695MAP3K1c.2392T>G (p.Leu798Val)
c.2014T>G (p.Leu672Val)
c.2137T>G (p.Leu713Val)
c.2113T>G (p.Leu705Val)
c.1981T>G (p.Leu661Val)
c.1903T>G (p.Leu635Val)
n.2423T>G
5g.56881593T>ACA359785698MAP3K1c.2393T>A (p.Leu798Ter)
c.2015T>A (p.Leu672Ter)
c.2138T>A (p.Leu713Ter)
c.2114T>A (p.Leu705Ter)
c.1982T>A (p.Leu661Ter)
c.1904T>A (p.Leu635Ter)
n.2424T>A
5g.56881593T>CCA359785697MAP3K1c.2393T>C (p.Leu798Ser)
c.2015T>C (p.Leu672Ser)
c.2138T>C (p.Leu713Ser)
c.2114T>C (p.Leu705Ser)
c.1982T>C (p.Leu661Ser)
c.1904T>C (p.Leu635Ser)
n.2424T>C
5g.56881593T>GCA359785696MAP3K1c.2393T>G (p.Leu798Ter)
c.2015T>G (p.Leu672Ter)
c.2138T>G (p.Leu713Ter)
c.2114T>G (p.Leu705Ter)
c.1982T>G (p.Leu661Ter)
c.1904T>G (p.Leu635Ter)
n.2424T>G
5g.56881594A>CCA359785699MAP3K1c.2394A>C (p.Leu798Phe)
c.2016A>C (p.Leu672Phe)
c.2139A>C (p.Leu713Phe)
c.2115A>C (p.Leu705Phe)
c.1983A>C (p.Leu661Phe)
c.1905A>C (p.Leu635Phe)
n.2425A>C
5g.56881594A>GCA444399032MAP3K1c.2394A>G (p.Leu798=)
c.2016A>G (p.Leu672=)
c.2139A>G (p.Leu713=)
c.2115A>G (p.Leu705=)
c.1983A>G (p.Leu661=)
c.1905A>G (p.Leu635=)
n.2425A>G
5g.56881594A>TCA359785700MAP3K1c.2394A>T (p.Leu798Phe)
c.2016A>T (p.Leu672Phe)
c.2139A>T (p.Leu713Phe)
c.2115A>T (p.Leu705Phe)
c.1983A>T (p.Leu661Phe)
c.1905A>T (p.Leu635Phe)
n.2425A>T
5g.56881595A>CCA359785701MAP3K1c.2395A>C (p.Thr799Pro)
c.2017A>C (p.Thr673Pro)
c.2140A>C (p.Thr714Pro)
c.2116A>C (p.Thr706Pro)
c.1984A>C (p.Thr662Pro)
c.1906A>C (p.Thr636Pro)
n.2426A>C
5g.56881595A>GCA359785702MAP3K1c.2395A>G (p.Thr799Ala)
c.2017A>G (p.Thr673Ala)
c.2140A>G (p.Thr714Ala)
c.2116A>G (p.Thr706Ala)
c.1984A>G (p.Thr662Ala)
c.1906A>G (p.Thr636Ala)
n.2426A>G
5g.56881595A>TCA359785703MAP3K1c.2395A>T (p.Thr799Ser)
c.2017A>T (p.Thr673Ser)
c.2140A>T (p.Thr714Ser)
c.2116A>T (p.Thr706Ser)
c.1984A>T (p.Thr662Ser)
c.1906A>T (p.Thr636Ser)
n.2426A>T
5g.56881596C>ACA359785704MAP3K1c.2396C>A (p.Thr799Asn)
c.2018C>A (p.Thr673Asn)
c.2141C>A (p.Thr714Asn)
c.2117C>A (p.Thr706Asn)
c.1985C>A (p.Thr662Asn)
c.1907C>A (p.Thr636Asn)
n.2427C>A
5g.56881596C>GCA359785705MAP3K1c.2396C>G (p.Thr799Ser)
c.2018C>G (p.Thr673Ser)
c.2141C>G (p.Thr714Ser)
c.2117C>G (p.Thr706Ser)
c.1985C>G (p.Thr662Ser)
c.1907C>G (p.Thr636Ser)
n.2427C>G
5g.56881596C>TCA359785706MAP3K1c.2396C>T (p.Thr799Ile)
c.2018C>T (p.Thr673Ile)
c.2141C>T (p.Thr714Ile)
c.2117C>T (p.Thr706Ile)
c.1985C>T (p.Thr662Ile)
c.1907C>T (p.Thr636Ile)
n.2427C>T
dbSNP gnomAD v4
5g.56881597C>ACA444399036MAP3K1c.2397C>A (p.Thr799=)
c.2019C>A (p.Thr673=)
c.2142C>A (p.Thr714=)
c.2118C>A (p.Thr706=)
c.1986C>A (p.Thr662=)
c.1908C>A (p.Thr636=)
n.2428C>A
5g.56881597C>GCA444399037MAP3K1c.2397C>G (p.Thr799=)
c.2019C>G (p.Thr673=)
c.2142C>G (p.Thr714=)
c.2118C>G (p.Thr706=)
c.1986C>G (p.Thr662=)
c.1908C>G (p.Thr636=)
n.2428C>G
gnomAD v4
5g.56881597C>TCA444399038MAP3K1c.2397C>T (p.Thr799=)
c.2019C>T (p.Thr673=)
c.2142C>T (p.Thr714=)
c.2118C>T (p.Thr706=)
c.1986C>T (p.Thr662=)
c.1908C>T (p.Thr636=)
n.2428C>T
dbSNP
5g.56881598T>ACA359785707MAP3K1c.2398T>A (p.Phe800Ile)
c.2020T>A (p.Phe674Ile)
c.2143T>A (p.Phe715Ile)
c.2119T>A (p.Phe707Ile)
c.1987T>A (p.Phe663Ile)
c.1909T>A (p.Phe637Ile)
n.2429T>A
5g.56881598T>CCA359785708MAP3K1c.2398T>C (p.Phe800Leu)
c.2020T>C (p.Phe674Leu)
c.2143T>C (p.Phe715Leu)
c.2119T>C (p.Phe707Leu)
c.1987T>C (p.Phe663Leu)
c.1909T>C (p.Phe637Leu)
n.2429T>C
5g.56881598T>GCA359785709MAP3K1c.2398T>G (p.Phe800Val)
c.2020T>G (p.Phe674Val)
c.2143T>G (p.Phe715Val)
c.2119T>G (p.Phe707Val)
c.1987T>G (p.Phe663Val)
c.1909T>G (p.Phe637Val)
n.2429T>G
5g.56881599T>ACA359785712MAP3K1c.2399T>A (p.Phe800Tyr)
c.2021T>A (p.Phe674Tyr)
c.2144T>A (p.Phe715Tyr)
c.2120T>A (p.Phe707Tyr)
c.1988T>A (p.Phe663Tyr)
c.1910T>A (p.Phe637Tyr)
n.2430T>A
5g.56881599T>CCA359785711MAP3K1c.2399T>C (p.Phe800Ser)
c.2021T>C (p.Phe674Ser)
c.2144T>C (p.Phe715Ser)
c.2120T>C (p.Phe707Ser)
c.1988T>C (p.Phe663Ser)
c.1910T>C (p.Phe637Ser)
n.2430T>C
gnomAD v4
5g.56881599T>GCA359785710MAP3K1c.2399T>G (p.Phe800Cys)
c.2021T>G (p.Phe674Cys)
c.2144T>G (p.Phe715Cys)
c.2120T>G (p.Phe707Cys)
c.1988T>G (p.Phe663Cys)
c.1910T>G (p.Phe637Cys)
n.2430T>G
5g.56881600T>ACA359785713MAP3K1c.2400T>A (p.Phe800Leu)
c.2022T>A (p.Phe674Leu)
c.2145T>A (p.Phe715Leu)
c.2121T>A (p.Phe707Leu)
c.1989T>A (p.Phe663Leu)
c.1911T>A (p.Phe637Leu)
n.2431T>A
5g.56881600T>CCA444399039MAP3K1c.2400T>C (p.Phe800=)
c.2022T>C (p.Phe674=)
c.2145T>C (p.Phe715=)
c.2121T>C (p.Phe707=)
c.1989T>C (p.Phe663=)
c.1911T>C (p.Phe637=)
n.2431T>C
5g.56881600T>GCA359785714MAP3K1c.2400T>G (p.Phe800Leu)
c.2022T>G (p.Phe674Leu)
c.2145T>G (p.Phe715Leu)
c.2121T>G (p.Phe707Leu)
c.1989T>G (p.Phe663Leu)
c.1911T>G (p.Phe637Leu)
n.2431T>G
5g.56881601G>ACA359785715MAP3K1c.2401G>A (p.Ala801Thr)
c.2023G>A (p.Ala675Thr)
c.2146G>A (p.Ala716Thr)
c.2122G>A (p.Ala708Thr)
c.1990G>A (p.Ala664Thr)
c.1912G>A (p.Ala638Thr)
n.2432G>A
5g.56881601G>CCA359785716MAP3K1c.2401G>C (p.Ala801Pro)
c.2023G>C (p.Ala675Pro)
c.2146G>C (p.Ala716Pro)
c.2122G>C (p.Ala708Pro)
c.1990G>C (p.Ala664Pro)
c.1912G>C (p.Ala638Pro)
n.2432G>C
5g.56881601G=CA1548139236MAP3K1c.2401G= (p.Ala801=)
c.2023G= (p.Ala675=)
c.2146G= (p.Ala716=)
c.2122G= (p.Ala708=)
c.1990G= (p.Ala664=)
c.1912G= (p.Ala638=)
n.2432G=
5g.56881601G>TCA3272998MAP3K1c.2401G>T (p.Ala801Ser)
c.2023G>T (p.Ala675Ser)
c.2146G>T (p.Ala716Ser)
c.2122G>T (p.Ala708Ser)
c.1990G>T (p.Ala664Ser)
c.1912G>T (p.Ala638Ser)
n.2432G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881602C>ACA359785717MAP3K1c.2402C>A (p.Ala801Asp)
c.2024C>A (p.Ala675Asp)
c.2147C>A (p.Ala716Asp)
c.2123C>A (p.Ala708Asp)
c.1991C>A (p.Ala664Asp)
c.1913C>A (p.Ala638Asp)
n.2433C>A
5g.56881602C>GCA359785718MAP3K1c.2402C>G (p.Ala801Gly)
c.2024C>G (p.Ala675Gly)
c.2147C>G (p.Ala716Gly)
c.2123C>G (p.Ala708Gly)
c.1991C>G (p.Ala664Gly)
c.1913C>G (p.Ala638Gly)
n.2433C>G
5g.56881602C>TCA359785719MAP3K1c.2402C>T (p.Ala801Val)
c.2024C>T (p.Ala675Val)
c.2147C>T (p.Ala716Val)
c.2123C>T (p.Ala708Val)
c.1991C>T (p.Ala664Val)
c.1913C>T (p.Ala638Val)
n.2433C>T
gnomAD v4
5g.56881603T>ACA444399042MAP3K1c.2403T>A (p.Ala801=)
c.2025T>A (p.Ala675=)
c.2148T>A (p.Ala716=)
c.2124T>A (p.Ala708=)
c.1992T>A (p.Ala664=)
c.1914T>A (p.Ala638=)
n.2434T>A
5g.56881603T>CCA444399044MAP3K1c.2403T>C (p.Ala801=)
c.2025T>C (p.Ala675=)
c.2148T>C (p.Ala716=)
c.2124T>C (p.Ala708=)
c.1992T>C (p.Ala664=)
c.1914T>C (p.Ala638=)
n.2434T>C
5g.56881603T>GCA444399046MAP3K1c.2403T>G (p.Ala801=)
c.2025T>G (p.Ala675=)
c.2148T>G (p.Ala716=)
c.2124T>G (p.Ala708=)
c.1992T>G (p.Ala664=)
c.1914T>G (p.Ala638=)
n.2434T>G
5g.56881604T>ACA359785720MAP3K1c.2404T>A (p.Leu802Met)
c.2026T>A (p.Leu676Met)
c.2149T>A (p.Leu717Met)
c.2125T>A (p.Leu709Met)
c.1993T>A (p.Leu665Met)
c.1915T>A (p.Leu639Met)
n.2435T>A
5g.56881604T>CCA444399047MAP3K1c.2404T>C (p.Leu802=)
c.2026T>C (p.Leu676=)
c.2149T>C (p.Leu717=)
c.2125T>C (p.Leu709=)
c.1993T>C (p.Leu665=)
c.1915T>C (p.Leu639=)
n.2435T>C
5g.56881604T>GCA359785721MAP3K1c.2404T>G (p.Leu802Val)
c.2026T>G (p.Leu676Val)
c.2149T>G (p.Leu717Val)
c.2125T>G (p.Leu709Val)
c.1993T>G (p.Leu665Val)
c.1915T>G (p.Leu639Val)
n.2435T>G
5g.56881605T>ACA359785722MAP3K1c.2405T>A (p.Leu802Ter)
c.2027T>A (p.Leu676Ter)
c.2150T>A (p.Leu717Ter)
c.2126T>A (p.Leu709Ter)
c.1994T>A (p.Leu665Ter)
c.1916T>A (p.Leu639Ter)
n.2436T>A
5g.56881605T>CCA359785723MAP3K1c.2405T>C (p.Leu802Ser)
c.2027T>C (p.Leu676Ser)
c.2150T>C (p.Leu717Ser)
c.2126T>C (p.Leu709Ser)
c.1994T>C (p.Leu665Ser)
c.1916T>C (p.Leu639Ser)
n.2436T>C
dbSNP
5g.56881605T>GCA359785724MAP3K1c.2405T>G (p.Leu802Trp)
c.2027T>G (p.Leu676Trp)
c.2150T>G (p.Leu717Trp)
c.2126T>G (p.Leu709Trp)
c.1994T>G (p.Leu665Trp)
c.1916T>G (p.Leu639Trp)
n.2436T>G
5g.56881605T=CA1548139237MAP3K1c.2405T= (p.Leu802=)
c.2027T= (p.Leu676=)
c.2150T= (p.Leu717=)
c.2126T= (p.Leu709=)
c.1994T= (p.Leu665=)
c.1916T= (p.Leu639=)
n.2436T=
5g.56881606G>ACA444399049MAP3K1c.2406G>A (p.Leu802=)
c.2028G>A (p.Leu676=)
c.2151G>A (p.Leu717=)
c.2127G>A (p.Leu709=)
c.1995G>A (p.Leu665=)
c.1917G>A (p.Leu639=)
n.2437G>A
5g.56881606G>CCA359785725MAP3K1c.2406G>C (p.Leu802Phe)
c.2028G>C (p.Leu676Phe)
c.2151G>C (p.Leu717Phe)
c.2127G>C (p.Leu709Phe)
c.1995G>C (p.Leu665Phe)
c.1917G>C (p.Leu639Phe)
n.2437G>C
5g.56881606G>TCA359785726MAP3K1c.2406G>T (p.Leu802Phe)
c.2028G>T (p.Leu676Phe)
c.2151G>T (p.Leu717Phe)
c.2127G>T (p.Leu709Phe)
c.1995G>T (p.Leu665Phe)
c.1917G>T (p.Leu639Phe)
n.2437G>T
gnomAD v4
5g.56881607C>ACA359785727MAP3K1c.2407C>A (p.Gln803Lys)
c.2029C>A (p.Gln677Lys)
c.2152C>A (p.Gln718Lys)
c.2128C>A (p.Gln710Lys)
c.1996C>A (p.Gln666Lys)
c.1918C>A (p.Gln640Lys)
n.2438C>A
5g.56881607C>GCA359785729MAP3K1c.2407C>G (p.Gln803Glu)
c.2029C>G (p.Gln677Glu)
c.2152C>G (p.Gln718Glu)
c.2128C>G (p.Gln710Glu)
c.1996C>G (p.Gln666Glu)
c.1918C>G (p.Gln640Glu)
n.2438C>G
5g.56881607C>TCA359785728MAP3K1c.2407C>T (p.Gln803Ter)
c.2029C>T (p.Gln677Ter)
c.2152C>T (p.Gln718Ter)
c.2128C>T (p.Gln710Ter)
c.1996C>T (p.Gln666Ter)
c.1918C>T (p.Gln640Ter)
n.2438C>T
dbSNP
5g.56881608A>CCA359785730MAP3K1c.2408A>C (p.Gln803Pro)
c.2030A>C (p.Gln677Pro)
c.2153A>C (p.Gln718Pro)
c.2129A>C (p.Gln710Pro)
c.1997A>C (p.Gln666Pro)
c.1919A>C (p.Gln640Pro)
n.2439A>C
5g.56881608A>GCA359785732MAP3K1c.2408A>G (p.Gln803Arg)
c.2030A>G (p.Gln677Arg)
c.2153A>G (p.Gln718Arg)
c.2129A>G (p.Gln710Arg)
c.1997A>G (p.Gln666Arg)
c.1919A>G (p.Gln640Arg)
n.2439A>G
5g.56881608A>TCA359785731MAP3K1c.2408A>T (p.Gln803Leu)
c.2030A>T (p.Gln677Leu)
c.2153A>T (p.Gln718Leu)
c.2129A>T (p.Gln710Leu)
c.1997A>T (p.Gln666Leu)
c.1919A>T (p.Gln640Leu)
n.2439A>T
5g.56881609G>ACA444399052MAP3K1c.2409G>A (p.Gln803=)
c.2031G>A (p.Gln677=)
c.2154G>A (p.Gln718=)
c.2130G>A (p.Gln710=)
c.1998G>A (p.Gln666=)
c.1920G>A (p.Gln640=)
n.2440G>A
5g.56881609G>CCA359785733MAP3K1c.2409G>C (p.Gln803His)
c.2031G>C (p.Gln677His)
c.2154G>C (p.Gln718His)
c.2130G>C (p.Gln710His)
c.1998G>C (p.Gln666His)
c.1920G>C (p.Gln640His)
n.2440G>C
5g.56881609G>TCA359785734MAP3K1c.2409G>T (p.Gln803His)
c.2031G>T (p.Gln677His)
c.2154G>T (p.Gln718His)
c.2130G>T (p.Gln710His)
c.1998G>T (p.Gln666His)
c.1920G>T (p.Gln640His)
n.2440G>T
5g.56881610T>ACA359785735MAP3K1c.2410T>A (p.Ser804Thr)
c.2032T>A (p.Ser678Thr)
c.2155T>A (p.Ser719Thr)
c.2131T>A (p.Ser711Thr)
c.1999T>A (p.Ser667Thr)
c.1921T>A (p.Ser641Thr)
n.2441T>A
gnomAD v4
5g.56881610T>CCA359785736MAP3K1c.2410T>C (p.Ser804Pro)
c.2032T>C (p.Ser678Pro)
c.2155T>C (p.Ser719Pro)
c.2131T>C (p.Ser711Pro)
c.1999T>C (p.Ser667Pro)
c.1921T>C (p.Ser641Pro)
n.2441T>C
5g.56881610T>GCA359785737MAP3K1c.2410T>G (p.Ser804Ala)
c.2032T>G (p.Ser678Ala)
c.2155T>G (p.Ser719Ala)
c.2131T>G (p.Ser711Ala)
c.1999T>G (p.Ser667Ala)
c.1921T>G (p.Ser641Ala)
n.2441T>G
5g.56881611C>ACA359785738MAP3K1c.2411C>A (p.Ser804Tyr)
c.2033C>A (p.Ser678Tyr)
c.2156C>A (p.Ser719Tyr)
c.2132C>A (p.Ser711Tyr)
c.2000C>A (p.Ser667Tyr)
c.1922C>A (p.Ser641Tyr)
n.2442C>A
5g.56881611C>GCA359785739MAP3K1c.2411C>G (p.Ser804Cys)
c.2033C>G (p.Ser678Cys)
c.2156C>G (p.Ser719Cys)
c.2132C>G (p.Ser711Cys)
c.2000C>G (p.Ser667Cys)
c.1922C>G (p.Ser641Cys)
n.2442C>G
5g.56881611C>TCA359785740MAP3K1c.2411C>T (p.Ser804Phe)
c.2033C>T (p.Ser678Phe)
c.2156C>T (p.Ser719Phe)
c.2132C>T (p.Ser711Phe)
c.2000C>T (p.Ser667Phe)
c.1922C>T (p.Ser641Phe)
n.2442C>T
5g.56881612C>ACA444399054MAP3K1c.2412C>A (p.Ser804=)
c.2034C>A (p.Ser678=)
c.2157C>A (p.Ser719=)
c.2133C>A (p.Ser711=)
c.2001C>A (p.Ser667=)
c.1923C>A (p.Ser641=)
n.2443C>A
5g.56881612C=CA1548139238MAP3K1c.2412C= (p.Ser804=)
c.2034C= (p.Ser678=)
c.2157C= (p.Ser719=)
c.2133C= (p.Ser711=)
c.2001C= (p.Ser667=)
c.1923C= (p.Ser641=)
n.2443C=
5g.56881612C>GCA444399056MAP3K1c.2412C>G (p.Ser804=)
c.2034C>G (p.Ser678=)
c.2157C>G (p.Ser719=)
c.2133C>G (p.Ser711=)
c.2001C>G (p.Ser667=)
c.1923C>G (p.Ser641=)
n.2443C>G
dbSNP gnomAD v2 gnomAD v4
5g.56881612C>TCA444399058MAP3K1c.2412C>T (p.Ser804=)
c.2034C>T (p.Ser678=)
c.2157C>T (p.Ser719=)
c.2133C>T (p.Ser711=)
c.2001C>T (p.Ser667=)
c.1923C>T (p.Ser641=)
n.2443C>T
gnomAD v4
5g.56881613A=CA1548139239MAP3K1c.2413A= (p.Ile805=)
c.2035A= (p.Ile679=)
c.2158A= (p.Ile720=)
c.2134A= (p.Ile712=)
c.2002A= (p.Ile668=)
c.1924A= (p.Ile642=)
n.2444A=
5g.56881613A>CCA359785741MAP3K1c.2413A>C (p.Ile805Leu)
c.2035A>C (p.Ile679Leu)
c.2158A>C (p.Ile720Leu)
c.2134A>C (p.Ile712Leu)
c.2002A>C (p.Ile668Leu)
c.1924A>C (p.Ile642Leu)
n.2444A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56881613A>GCA359785742MAP3K1c.2413A>G (p.Ile805Val)
c.2035A>G (p.Ile679Val)
c.2158A>G (p.Ile720Val)
c.2134A>G (p.Ile712Val)
c.2002A>G (p.Ile668Val)
c.1924A>G (p.Ile642Val)
n.2444A>G
gnomAD v4
5g.56881613A>TCA359785743MAP3K1c.2413A>T (p.Ile805Phe)
c.2035A>T (p.Ile679Phe)
c.2158A>T (p.Ile720Phe)
c.2134A>T (p.Ile712Phe)
c.2002A>T (p.Ile668Phe)
c.1924A>T (p.Ile642Phe)
n.2444A>T
5g.56881614T>ACA359785744MAP3K1c.2414T>A (p.Ile805Asn)
c.2036T>A (p.Ile679Asn)
c.2159T>A (p.Ile720Asn)
c.2135T>A (p.Ile712Asn)
c.2003T>A (p.Ile668Asn)
c.1925T>A (p.Ile642Asn)
n.2445T>A
5g.56881614T>CCA359785745MAP3K1c.2414T>C (p.Ile805Thr)
c.2036T>C (p.Ile679Thr)
c.2159T>C (p.Ile720Thr)
c.2135T>C (p.Ile712Thr)
c.2003T>C (p.Ile668Thr)
c.1925T>C (p.Ile642Thr)
n.2445T>C
5g.56881614T>GCA359785746MAP3K1c.2414T>G (p.Ile805Ser)
c.2036T>G (p.Ile679Ser)
c.2159T>G (p.Ile720Ser)
c.2135T>G (p.Ile712Ser)
c.2003T>G (p.Ile668Ser)
c.1925T>G (p.Ile642Ser)
n.2445T>G
5g.56881615T>ACA444399060MAP3K1c.2415T>A (p.Ile805=)
c.2037T>A (p.Ile679=)
c.2160T>A (p.Ile720=)
c.2136T>A (p.Ile712=)
c.2004T>A (p.Ile668=)
c.1926T>A (p.Ile642=)
n.2446T>A
5g.56881615T>CCA444399061MAP3K1c.2415T>C (p.Ile805=)
c.2037T>C (p.Ile679=)
c.2160T>C (p.Ile720=)
c.2136T>C (p.Ile712=)
c.2004T>C (p.Ile668=)
c.1926T>C (p.Ile642=)
n.2446T>C
5g.56881615T>GCA359785747MAP3K1c.2415T>G (p.Ile805Met)
c.2037T>G (p.Ile679Met)
c.2160T>G (p.Ile720Met)
c.2136T>G (p.Ile712Met)
c.2004T>G (p.Ile668Met)
c.1926T>G (p.Ile642Met)
n.2446T>G
5g.56881616G>ACA3272999MAP3K1c.2416G>A (p.Asp806Asn)
c.2038G>A (p.Asp680Asn)
c.2161G>A (p.Asp721Asn)
c.2137G>A (p.Asp713Asn)
c.2005G>A (p.Asp669Asn)
c.1927G>A (p.Asp643Asn)
n.2447G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881616G>CCA359785749MAP3K1c.2416G>C (p.Asp806His)
c.2038G>C (p.Asp680His)
c.2161G>C (p.Asp721His)
c.2137G>C (p.Asp713His)
c.2005G>C (p.Asp669His)
c.1927G>C (p.Asp643His)
n.2447G>C
dbSNP gnomAD v3 gnomAD v4
5g.56881616G=CA1548139240MAP3K1c.2416G= (p.Asp806=)
c.2038G= (p.Asp680=)
c.2161G= (p.Asp721=)
c.2137G= (p.Asp713=)
c.2005G= (p.Asp669=)
c.1927G= (p.Asp643=)
n.2447G=
5g.56881616G>TCA359785748MAP3K1c.2416G>T (p.Asp806Tyr)
c.2038G>T (p.Asp680Tyr)
c.2161G>T (p.Asp721Tyr)
c.2137G>T (p.Asp713Tyr)
c.2005G>T (p.Asp669Tyr)
c.1927G>T (p.Asp643Tyr)
n.2447G>T
5g.56881617A>CCA359785750MAP3K1c.2417A>C (p.Asp806Ala)
c.2039A>C (p.Asp680Ala)
c.2162A>C (p.Asp721Ala)
c.2138A>C (p.Asp713Ala)
c.2006A>C (p.Asp669Ala)
c.1928A>C (p.Asp643Ala)
n.2448A>C
5g.56881617A>GCA359785751MAP3K1c.2417A>G (p.Asp806Gly)
c.2039A>G (p.Asp680Gly)
c.2162A>G (p.Asp721Gly)
c.2138A>G (p.Asp713Gly)
c.2006A>G (p.Asp669Gly)
c.1928A>G (p.Asp643Gly)
n.2448A>G
5g.56881617A>TCA359785752MAP3K1c.2417A>T (p.Asp806Val)
c.2039A>T (p.Asp680Val)
c.2162A>T (p.Asp721Val)
c.2138A>T (p.Asp713Val)
c.2006A>T (p.Asp669Val)
c.1928A>T (p.Asp643Val)
n.2448A>T
5g.56881618T>ACA359785753MAP3K1c.2418T>A (p.Asp806Glu)
c.2040T>A (p.Asp680Glu)
c.2163T>A (p.Asp721Glu)
c.2139T>A (p.Asp713Glu)
c.2007T>A (p.Asp669Glu)
c.1929T>A (p.Asp643Glu)
n.2449T>A
5g.56881618T>CCA444399063MAP3K1c.2418T>C (p.Asp806=)
c.2040T>C (p.Asp680=)
c.2163T>C (p.Asp721=)
c.2139T>C (p.Asp713=)
c.2007T>C (p.Asp669=)
c.1929T>C (p.Asp643=)
n.2449T>C
5g.56881618T>GCA359785754MAP3K1c.2418T>G (p.Asp806Glu)
c.2040T>G (p.Asp680Glu)
c.2163T>G (p.Asp721Glu)
c.2139T>G (p.Asp713Glu)
c.2007T>G (p.Asp669Glu)
c.1929T>G (p.Asp643Glu)
n.2449T>G
5g.56881619A>CCA359785755MAP3K1c.2419A>C (p.Asn807His)
c.2041A>C (p.Asn681His)
c.2164A>C (p.Asn722His)
c.2140A>C (p.Asn714His)
c.2008A>C (p.Asn670His)
c.1930A>C (p.Asn644His)
n.2450A>C
5g.56881619A>GCA359785756MAP3K1c.2419A>G (p.Asn807Asp)
c.2041A>G (p.Asn681Asp)
c.2164A>G (p.Asn722Asp)
c.2140A>G (p.Asn714Asp)
c.2008A>G (p.Asn670Asp)
c.1930A>G (p.Asn644Asp)
n.2450A>G
5g.56881619A>TCA359785757MAP3K1c.2419A>T (p.Asn807Tyr)
c.2041A>T (p.Asn681Tyr)
c.2164A>T (p.Asn722Tyr)
c.2140A>T (p.Asn714Tyr)
c.2008A>T (p.Asn670Tyr)
c.1930A>T (p.Asn644Tyr)
n.2450A>T
5g.56881620A>CCA359785758MAP3K1c.2420A>C (p.Asn807Thr)
c.2042A>C (p.Asn681Thr)
c.2165A>C (p.Asn722Thr)
c.2141A>C (p.Asn714Thr)
c.2009A>C (p.Asn670Thr)
c.1931A>C (p.Asn644Thr)
n.2451A>C
5g.56881620A>GCA359785759MAP3K1c.2420A>G (p.Asn807Ser)
c.2042A>G (p.Asn681Ser)
c.2165A>G (p.Asn722Ser)
c.2141A>G (p.Asn714Ser)
c.2009A>G (p.Asn670Ser)
c.1931A>G (p.Asn644Ser)
n.2451A>G
ClinVar gnomAD v4
5g.56881620A>TCA359785760MAP3K1c.2420A>T (p.Asn807Ile)
c.2042A>T (p.Asn681Ile)
c.2165A>T (p.Asn722Ile)
c.2141A>T (p.Asn714Ile)
c.2009A>T (p.Asn670Ile)
c.1931A>T (p.Asn644Ile)
n.2451A>T
5g.56881621T>ACA359785761MAP3K1c.2421T>A (p.Asn807Lys)
c.2043T>A (p.Asn681Lys)
c.2166T>A (p.Asn722Lys)
c.2142T>A (p.Asn714Lys)
c.2010T>A (p.Asn670Lys)
c.1932T>A (p.Asn644Lys)
n.2452T>A
5g.56881621T>CCA444399064MAP3K1c.2421T>C (p.Asn807=)
c.2043T>C (p.Asn681=)
c.2166T>C (p.Asn722=)
c.2142T>C (p.Asn714=)
c.2010T>C (p.Asn670=)
c.1932T>C (p.Asn644=)
n.2452T>C
5g.56881621T>GCA359785762MAP3K1c.2421T>G (p.Asn807Lys)
c.2043T>G (p.Asn681Lys)
c.2166T>G (p.Asn722Lys)
c.2142T>G (p.Asn714Lys)
c.2010T>G (p.Asn670Lys)
c.1932T>G (p.Asn644Lys)
n.2452T>G
5g.56881622T>ACA359785763MAP3K1c.2422T>A (p.Ser808Thr)
c.2044T>A (p.Ser682Thr)
c.2167T>A (p.Ser723Thr)
c.2143T>A (p.Ser715Thr)
c.2011T>A (p.Ser671Thr)
c.1933T>A (p.Ser645Thr)
n.2453T>A
5g.56881622T>CCA359785764MAP3K1c.2422T>C (p.Ser808Pro)
c.2044T>C (p.Ser682Pro)
c.2167T>C (p.Ser723Pro)
c.2143T>C (p.Ser715Pro)
c.2011T>C (p.Ser671Pro)
c.1933T>C (p.Ser645Pro)
n.2453T>C
5g.56881622T>GCA359785765MAP3K1c.2422T>G (p.Ser808Ala)
c.2044T>G (p.Ser682Ala)
c.2167T>G (p.Ser723Ala)
c.2143T>G (p.Ser715Ala)
c.2011T>G (p.Ser671Ala)
c.1933T>G (p.Ser645Ala)
n.2453T>G
5g.56881623C>ACA359785766MAP3K1c.2423C>A (p.Ser808Tyr)
c.2045C>A (p.Ser682Tyr)
c.2168C>A (p.Ser723Tyr)
c.2144C>A (p.Ser715Tyr)
c.2012C>A (p.Ser671Tyr)
c.1934C>A (p.Ser645Tyr)
n.2454C>A
5g.56881623C=CA1548139241MAP3K1c.2423C= (p.Ser808=)
c.2045C= (p.Ser682=)
c.2168C= (p.Ser723=)
c.2144C= (p.Ser715=)
c.2012C= (p.Ser671=)
c.1934C= (p.Ser645=)
n.2454C=
5g.56881623C>GCA3273000MAP3K1c.2423C>G (p.Ser808Cys)
c.2045C>G (p.Ser682Cys)
c.2168C>G (p.Ser723Cys)
c.2144C>G (p.Ser715Cys)
c.2012C>G (p.Ser671Cys)
c.1934C>G (p.Ser645Cys)
n.2454C>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56881623C>TCA359785767MAP3K1c.2423C>T (p.Ser808Phe)
c.2045C>T (p.Ser682Phe)
c.2168C>T (p.Ser723Phe)
c.2144C>T (p.Ser715Phe)
c.2012C>T (p.Ser671Phe)
c.1934C>T (p.Ser645Phe)
n.2454C>T
5g.56881624C>ACA444399065MAP3K1c.2424C>A (p.Ser808=)
c.2046C>A (p.Ser682=)
c.2169C>A (p.Ser723=)
c.2145C>A (p.Ser715=)
c.2013C>A (p.Ser671=)
c.1935C>A (p.Ser645=)
n.2455C>A
5g.56881624C=CA1548139242MAP3K1c.2424C= (p.Ser808=)
c.2046C= (p.Ser682=)
c.2169C= (p.Ser723=)
c.2145C= (p.Ser715=)
c.2013C= (p.Ser671=)
c.1935C= (p.Ser645=)
n.2455C=
5g.56881624C>GCA444399066MAP3K1c.2424C>G (p.Ser808=)
c.2046C>G (p.Ser682=)
c.2169C>G (p.Ser723=)
c.2145C>G (p.Ser715=)
c.2013C>G (p.Ser671=)
c.1935C>G (p.Ser645=)
n.2455C>G
gnomAD v4
5g.56881624C>TCA444399067MAP3K1c.2424C>T (p.Ser808=)
c.2046C>T (p.Ser682=)
c.2169C>T (p.Ser723=)
c.2145C>T (p.Ser715=)
c.2013C>T (p.Ser671=)
c.1935C>T (p.Ser645=)
n.2455C>T
dbSNP
5g.56881625C>ACA359785768MAP3K1c.2425C>A (p.His809Asn)
c.2047C>A (p.His683Asn)
c.2170C>A (p.His724Asn)
c.2146C>A (p.His716Asn)
c.2014C>A (p.His672Asn)
c.1936C>A (p.His646Asn)
n.2456C>A
5g.56881625C>GCA359785769MAP3K1c.2425C>G (p.His809Asp)
c.2047C>G (p.His683Asp)
c.2170C>G (p.His724Asp)
c.2146C>G (p.His716Asp)
c.2014C>G (p.His672Asp)
c.1936C>G (p.His646Asp)
n.2456C>G
5g.56881625C>TCA359785770MAP3K1c.2425C>T (p.His809Tyr)
c.2047C>T (p.His683Tyr)
c.2170C>T (p.His724Tyr)
c.2146C>T (p.His716Tyr)
c.2014C>T (p.His672Tyr)
c.1936C>T (p.His646Tyr)
n.2456C>T
dbSNP gnomAD v4
5g.56881626A>CCA359785771MAP3K1c.2426A>C (p.His809Pro)
c.2048A>C (p.His683Pro)
c.2171A>C (p.His724Pro)
c.2147A>C (p.His716Pro)
c.2015A>C (p.His672Pro)
c.1937A>C (p.His646Pro)
n.2457A>C
5g.56881626A>GCA359785772MAP3K1c.2426A>G (p.His809Arg)
c.2048A>G (p.His683Arg)
c.2171A>G (p.His724Arg)
c.2147A>G (p.His716Arg)
c.2015A>G (p.His672Arg)
c.1937A>G (p.His646Arg)
n.2457A>G
5g.56881626A>TCA359785773MAP3K1c.2426A>T (p.His809Leu)
c.2048A>T (p.His683Leu)
c.2171A>T (p.His724Leu)
c.2147A>T (p.His716Leu)
c.2015A>T (p.His672Leu)
c.1937A>T (p.His646Leu)
n.2457A>T
5g.56881627C>ACA359785775MAP3K1c.2427C>A (p.His809Gln)
c.2049C>A (p.His683Gln)
c.2172C>A (p.His724Gln)
c.2148C>A (p.His716Gln)
c.2016C>A (p.His672Gln)
c.1938C>A (p.His646Gln)
n.2458C>A
5g.56881627C>GCA359785774MAP3K1c.2427C>G (p.His809Gln)
c.2049C>G (p.His683Gln)
c.2172C>G (p.His724Gln)
c.2148C>G (p.His716Gln)
c.2016C>G (p.His672Gln)
c.1938C>G (p.His646Gln)
n.2458C>G
5g.56881627C>TCA444399068MAP3K1c.2427C>T (p.His809=)
c.2049C>T (p.His683=)
c.2172C>T (p.His724=)
c.2148C>T (p.His716=)
c.2016C>T (p.His672=)
c.1938C>T (p.His646=)
n.2458C>T
gnomAD v4
5g.56881628T>ACA359785776MAP3K1c.2428T>A (p.Ser810Thr)
c.2050T>A (p.Ser684Thr)
c.2173T>A (p.Ser725Thr)
c.2149T>A (p.Ser717Thr)
c.2017T>A (p.Ser673Thr)
c.1939T>A (p.Ser647Thr)
n.2459T>A
5g.56881628T>CCA359785777MAP3K1c.2428T>C (p.Ser810Pro)
c.2050T>C (p.Ser684Pro)
c.2173T>C (p.Ser725Pro)
c.2149T>C (p.Ser717Pro)
c.2017T>C (p.Ser673Pro)
c.1939T>C (p.Ser647Pro)
n.2459T>C
5g.56881628T>GCA359785778MAP3K1c.2428T>G (p.Ser810Ala)
c.2050T>G (p.Ser684Ala)
c.2173T>G (p.Ser725Ala)
c.2149T>G (p.Ser717Ala)
c.2017T>G (p.Ser673Ala)
c.1939T>G (p.Ser647Ala)
n.2459T>G
5g.56881629C>ACA359785779MAP3K1c.2429C>A (p.Ser810Ter)
c.2051C>A (p.Ser684Ter)
c.2174C>A (p.Ser725Ter)
c.2150C>A (p.Ser717Ter)
c.2018C>A (p.Ser673Ter)
c.1940C>A (p.Ser647Ter)
n.2460C>A
5g.56881629C=CA1548139243MAP3K1c.2429C= (p.Ser810=)
c.2051C= (p.Ser684=)
c.2174C= (p.Ser725=)
c.2150C= (p.Ser717=)
c.2018C= (p.Ser673=)
c.1940C= (p.Ser647=)
n.2460C=
5g.56881629C>GCA359785780MAP3K1c.2429C>G (p.Ser810Ter)
c.2051C>G (p.Ser684Ter)
c.2174C>G (p.Ser725Ter)
c.2150C>G (p.Ser717Ter)
c.2018C>G (p.Ser673Ter)
c.1940C>G (p.Ser647Ter)
n.2460C>G
5g.56881629C>TCA359785781MAP3K1c.2429C>T (p.Ser810Leu)
c.2051C>T (p.Ser684Leu)
c.2174C>T (p.Ser725Leu)
c.2150C>T (p.Ser717Leu)
c.2018C>T (p.Ser673Leu)
c.1940C>T (p.Ser647Leu)
n.2460C>T
dbSNP gnomAD v2
5g.56881630A>CCA444399071MAP3K1c.2430A>C (p.Ser810=)
c.2052A>C (p.Ser684=)
c.2175A>C (p.Ser725=)
c.2151A>C (p.Ser717=)
c.2019A>C (p.Ser673=)
c.1941A>C (p.Ser647=)
n.2461A>C
5g.56881630A>GCA444399070MAP3K1c.2430A>G (p.Ser810=)
c.2052A>G (p.Ser684=)
c.2175A>G (p.Ser725=)
c.2151A>G (p.Ser717=)
c.2019A>G (p.Ser673=)
c.1941A>G (p.Ser647=)
n.2461A>G
gnomAD v4
5g.56881630A>TCA444399069MAP3K1c.2430A>T (p.Ser810=)
c.2052A>T (p.Ser684=)
c.2175A>T (p.Ser725=)
c.2151A>T (p.Ser717=)
c.2019A>T (p.Ser673=)
c.1941A>T (p.Ser647=)
n.2461A>T
5g.56881631A=CA1548139244MAP3K1c.2431A= (p.Met811=)
c.2053A= (p.Met685=)
c.2176A= (p.Met726=)
c.2152A= (p.Met718=)
c.2020A= (p.Met674=)
c.1942A= (p.Met648=)
n.2462A=
5g.56881631A>CCA359785782MAP3K1c.2431A>C (p.Met811Leu)
c.2053A>C (p.Met685Leu)
c.2176A>C (p.Met726Leu)
c.2152A>C (p.Met718Leu)
c.2020A>C (p.Met674Leu)
c.1942A>C (p.Met648Leu)
n.2462A>C
5g.56881631A>GCA3273001MAP3K1c.2431A>G (p.Met811Val)
c.2053A>G (p.Met685Val)
c.2176A>G (p.Met726Val)
c.2152A>G (p.Met718Val)
c.2020A>G (p.Met674Val)
c.1942A>G (p.Met648Val)
n.2462A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881631A>TCA359785783MAP3K1c.2431A>T (p.Met811Leu)
c.2053A>T (p.Met685Leu)
c.2176A>T (p.Met726Leu)
c.2152A>T (p.Met718Leu)
c.2020A>T (p.Met674Leu)
c.1942A>T (p.Met648Leu)
n.2462A>T
5g.56881632T>ACA359785784MAP3K1c.2432T>A (p.Met811Lys)
c.2054T>A (p.Met685Lys)
c.2177T>A (p.Met726Lys)
c.2153T>A (p.Met718Lys)
c.2021T>A (p.Met674Lys)
c.1943T>A (p.Met648Lys)
n.2463T>A
5g.56881632T>CCA359785785MAP3K1c.2432T>C (p.Met811Thr)
c.2054T>C (p.Met685Thr)
c.2177T>C (p.Met726Thr)
c.2153T>C (p.Met718Thr)
c.2021T>C (p.Met674Thr)
c.1943T>C (p.Met648Thr)
n.2463T>C
5g.56881632T>GCA359785786MAP3K1c.2432T>G (p.Met811Arg)
c.2054T>G (p.Met685Arg)
c.2177T>G (p.Met726Arg)
c.2153T>G (p.Met718Arg)
c.2021T>G (p.Met674Arg)
c.1943T>G (p.Met648Arg)
n.2463T>G
5g.56881633G>ACA359785789MAP3K1c.2433G>A (p.Met811Ile)
c.2055G>A (p.Met685Ile)
c.2178G>A (p.Met726Ile)
c.2154G>A (p.Met718Ile)
c.2022G>A (p.Met674Ile)
c.1944G>A (p.Met648Ile)
n.2464G>A
5g.56881633G>CCA359785788MAP3K1c.2433G>C (p.Met811Ile)
c.2055G>C (p.Met685Ile)
c.2178G>C (p.Met726Ile)
c.2154G>C (p.Met718Ile)
c.2022G>C (p.Met674Ile)
c.1944G>C (p.Met648Ile)
n.2464G>C
5g.56881633G>TCA359785787MAP3K1c.2433G>T (p.Met811Ile)
c.2055G>T (p.Met685Ile)
c.2178G>T (p.Met726Ile)
c.2154G>T (p.Met718Ile)
c.2022G>T (p.Met674Ile)
c.1944G>T (p.Met648Ile)
n.2464G>T
COSMIC
5g.56881634G>ACA359785790MAP3K1c.2434G>A (p.Val812Ile)
c.2056G>A (p.Val686Ile)
c.2179G>A (p.Val727Ile)
c.2155G>A (p.Val719Ile)
c.2023G>A (p.Val675Ile)
c.1945G>A (p.Val649Ile)
n.2465G>A
gnomAD v4
5g.56881634G>CCA359785791MAP3K1c.2434G>C (p.Val812Leu)
c.2056G>C (p.Val686Leu)
c.2179G>C (p.Val727Leu)
c.2155G>C (p.Val719Leu)
c.2023G>C (p.Val675Leu)
c.1945G>C (p.Val649Leu)
n.2465G>C
5g.56881634G>TCA359785792MAP3K1c.2434G>T (p.Val812Phe)
c.2056G>T (p.Val686Phe)
c.2179G>T (p.Val727Phe)
c.2155G>T (p.Val719Phe)
c.2023G>T (p.Val675Phe)
c.1945G>T (p.Val649Phe)
n.2465G>T
5g.56881635T>ACA359785793MAP3K1c.2435T>A (p.Val812Asp)
c.2057T>A (p.Val686Asp)
c.2180T>A (p.Val727Asp)
c.2156T>A (p.Val719Asp)
c.2024T>A (p.Val675Asp)
c.1946T>A (p.Val649Asp)
n.2466T>A
5g.56881635T>CCA3273002MAP3K1c.2435T>C (p.Val812Ala)
c.2057T>C (p.Val686Ala)
c.2180T>C (p.Val727Ala)
c.2156T>C (p.Val719Ala)
c.2024T>C (p.Val675Ala)
c.1946T>C (p.Val649Ala)
n.2466T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56881635T>GCA359785794MAP3K1c.2435T>G (p.Val812Gly)
c.2057T>G (p.Val686Gly)
c.2180T>G (p.Val727Gly)
c.2156T>G (p.Val719Gly)
c.2024T>G (p.Val675Gly)
c.1946T>G (p.Val649Gly)
n.2466T>G
5g.56881635T=CA1548139245MAP3K1c.2435T= (p.Val812=)
c.2057T= (p.Val686=)
c.2180T= (p.Val727=)
c.2156T= (p.Val719=)
c.2024T= (p.Val675=)
c.1946T= (p.Val649=)
n.2466T=

Number of alleles fetched