Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.56859709A=CA1548129176MAP3K1c.634-6A= (n.634-6A=)
c.256-6A= (n.256-6A=)
c.379-6A= (n.379-6A=)
c.223-6A= (n.223-6A=)
c.145-6A= (n.145-6A=)
n.665-6A=
5g.56859709A>CCA444391591MAP3K1c.634-6A>C (n.634-6A>C)
c.256-6A>C (n.256-6A>C)
c.379-6A>C (n.379-6A>C)
c.223-6A>C (n.223-6A>C)
c.145-6A>C (n.145-6A>C)
n.665-6A>C
5g.56859709A>GCA3272581MAP3K1c.634-6A>G (n.634-6A>G)
c.256-6A>G (n.256-6A>G)
c.379-6A>G (n.379-6A>G)
c.223-6A>G (n.223-6A>G)
c.145-6A>G (n.145-6A>G)
n.665-6A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859709A>TCA444391592MAP3K1c.634-6A>T (n.634-6A>T)
c.256-6A>T (n.256-6A>T)
c.379-6A>T (n.379-6A>T)
c.223-6A>T (n.223-6A>T)
c.145-6A>T (n.145-6A>T)
n.665-6A>T
dbSNP
5g.56859710T>ACA444391593MAP3K1c.634-5T>A (n.634-5T>A)
c.256-5T>A (n.256-5T>A)
c.379-5T>A (n.379-5T>A)
c.223-5T>A (n.223-5T>A)
c.145-5T>A (n.145-5T>A)
n.665-5T>A
5g.56859710T>CCA444391594MAP3K1c.634-5T>C (n.634-5T>C)
c.256-5T>C (n.256-5T>C)
c.379-5T>C (n.379-5T>C)
c.223-5T>C (n.223-5T>C)
c.145-5T>C (n.145-5T>C)
n.665-5T>C
dbSNP gnomAD v2 gnomAD v4
5g.56859710T>GCA444391595MAP3K1c.634-5T>G (n.634-5T>G)
c.256-5T>G (n.256-5T>G)
c.379-5T>G (n.379-5T>G)
c.223-5T>G (n.223-5T>G)
c.145-5T>G (n.145-5T>G)
n.665-5T>G
5g.56859710T=CA1548129177MAP3K1c.634-5T= (n.634-5T=)
c.256-5T= (n.256-5T=)
c.379-5T= (n.379-5T=)
c.223-5T= (n.223-5T=)
c.145-5T= (n.145-5T=)
n.665-5T=
5g.56859711T>ACA444391596MAP3K1c.634-4T>A (n.634-4T>A)
c.256-4T>A (n.256-4T>A)
c.379-4T>A (n.379-4T>A)
c.223-4T>A (n.223-4T>A)
c.145-4T>A (n.145-4T>A)
n.665-4T>A
5g.56859711T>CCA444391597MAP3K1c.634-4T>C (n.634-4T>C)
c.256-4T>C (n.256-4T>C)
c.379-4T>C (n.379-4T>C)
c.223-4T>C (n.223-4T>C)
c.145-4T>C (n.145-4T>C)
n.665-4T>C
5g.56859711T>GCA444391598MAP3K1c.634-4T>G (n.634-4T>G)
c.256-4T>G (n.256-4T>G)
c.379-4T>G (n.379-4T>G)
c.223-4T>G (n.223-4T>G)
c.145-4T>G (n.145-4T>G)
n.665-4T>G
5g.56859712C>ACA444391599MAP3K1c.634-3C>A (n.634-3C>A)
c.256-3C>A (n.256-3C>A)
c.379-3C>A (n.379-3C>A)
c.223-3C>A (n.223-3C>A)
c.145-3C>A (n.145-3C>A)
n.665-3C>A
dbSNP gnomAD v4
5g.56859712C=CA1548129178MAP3K1c.634-3C= (n.634-3C=)
c.256-3C= (n.256-3C=)
c.379-3C= (n.379-3C=)
c.223-3C= (n.223-3C=)
c.145-3C= (n.145-3C=)
n.665-3C=
5g.56859712C>GCA444391600MAP3K1c.634-3C>G (n.634-3C>G)
c.256-3C>G (n.256-3C>G)
c.379-3C>G (n.379-3C>G)
c.223-3C>G (n.223-3C>G)
c.145-3C>G (n.145-3C>G)
n.665-3C>G
5g.56859712C>TCA444391601MAP3K1c.634-3C>T (n.634-3C>T)
c.256-3C>T (n.256-3C>T)
c.379-3C>T (n.379-3C>T)
c.223-3C>T (n.223-3C>T)
c.145-3C>T (n.145-3C>T)
n.665-3C>T
5g.56859713A>CCA359802304MAP3K1c.634-2A>C (n.634-2A>C)
c.256-2A>C (n.256-2A>C)
c.379-2A>C (n.379-2A>C)
c.223-2A>C (n.223-2A>C)
c.145-2A>C (n.145-2A>C)
n.665-2A>C
5g.56859713A>GCA359802305MAP3K1c.634-2A>G (n.634-2A>G)
c.256-2A>G (n.256-2A>G)
c.379-2A>G (n.379-2A>G)
c.223-2A>G (n.223-2A>G)
c.145-2A>G (n.145-2A>G)
n.665-2A>G
gnomAD v4
5g.56859713A>TCA359802306MAP3K1c.634-2A>T (n.634-2A>T)
c.256-2A>T (n.256-2A>T)
c.379-2A>T (n.379-2A>T)
c.223-2A>T (n.223-2A>T)
c.145-2A>T (n.145-2A>T)
n.665-2A>T
5g.56859714G>ACA359802307MAP3K1c.634-1G>A (n.634-1G>A)
c.256-1G>A (n.256-1G>A)
c.379-1G>A (n.379-1G>A)
c.223-1G>A (n.223-1G>A)
c.145-1G>A (n.145-1G>A)
n.665-1G>A
5g.56859714G>CCA359802308MAP3K1c.634-1G>C (n.634-1G>C)
c.256-1G>C (n.256-1G>C)
c.379-1G>C (n.379-1G>C)
c.223-1G>C (n.223-1G>C)
c.145-1G>C (n.145-1G>C)
n.665-1G>C
5g.56859714G=CA1548129179MAP3K1c.634-1G= (n.634-1G=)
c.256-1G= (n.256-1G=)
c.379-1G= (n.379-1G=)
c.223-1G= (n.223-1G=)
c.145-1G= (n.145-1G=)
n.665-1G=
5g.56859714G>TCA359802309MAP3K1c.634-1G>T (n.634-1G>T)
c.256-1G>T (n.256-1G>T)
c.379-1G>T (n.379-1G>T)
c.223-1G>T (n.223-1G>T)
c.145-1G>T (n.145-1G>T)
n.665-1G>T
dbSNP
5g.56859715G>ACA119520065MAP3K1c.634G>A (p.Val212Met)
c.256G>A (p.Val86Met)
c.379G>A (p.Val127Met)
c.223G>A (p.Val75Met)
c.145G>A (p.Val49Met)
n.665G>A
dbSNP
5g.56859715G>CCA359802311MAP3K1c.634G>C (p.Val212Leu)
c.256G>C (p.Val86Leu)
c.379G>C (p.Val127Leu)
c.223G>C (p.Val75Leu)
c.145G>C (p.Val49Leu)
n.665G>C
5g.56859715G=CA1548129180MAP3K1c.634G= (p.Val212=)
c.256G= (p.Val86=)
c.379G= (p.Val127=)
c.223G= (p.Val75=)
c.145G= (p.Val49=)
n.665G=
5g.56859715G>TCA359802310MAP3K1c.634G>T (p.Val212Leu)
c.256G>T (p.Val86Leu)
c.379G>T (p.Val127Leu)
c.223G>T (p.Val75Leu)
c.145G>T (p.Val49Leu)
n.665G>T
5g.56859716T>ACA359802312MAP3K1c.635T>A (p.Val212Glu)
c.257T>A (p.Val86Glu)
c.380T>A (p.Val127Glu)
c.224T>A (p.Val75Glu)
c.146T>A (p.Val49Glu)
n.666T>A
5g.56859716T>CCA359802313MAP3K1c.635T>C (p.Val212Ala)
c.257T>C (p.Val86Ala)
c.380T>C (p.Val127Ala)
c.224T>C (p.Val75Ala)
c.146T>C (p.Val49Ala)
n.666T>C
5g.56859716T>GCA359802314MAP3K1c.635T>G (p.Val212Gly)
c.257T>G (p.Val86Gly)
c.380T>G (p.Val127Gly)
c.224T>G (p.Val75Gly)
c.146T>G (p.Val49Gly)
n.666T>G
5g.56859717G>ACA444391602MAP3K1c.636G>A (p.Val212=)
c.258G>A (p.Val86=)
c.381G>A (p.Val127=)
c.225G>A (p.Val75=)
c.147G>A (p.Val49=)
n.667G>A
5g.56859717G>CCA444391604MAP3K1c.636G>C (p.Val212=)
c.258G>C (p.Val86=)
c.381G>C (p.Val127=)
c.225G>C (p.Val75=)
c.147G>C (p.Val49=)
n.667G>C
5g.56859717G>TCA444391603MAP3K1c.636G>T (p.Val212=)
c.258G>T (p.Val86=)
c.381G>T (p.Val127=)
c.225G>T (p.Val75=)
c.147G>T (p.Val49=)
n.667G>T
5g.56859718G>ACA359802315MAP3K1c.637G>A (p.Val213Ile)
c.259G>A (p.Val87Ile)
c.382G>A (p.Val128Ile)
c.226G>A (p.Val76Ile)
c.148G>A (p.Val50Ile)
n.668G>A
5g.56859718G>CCA359802316MAP3K1c.637G>C (p.Val213Leu)
c.259G>C (p.Val87Leu)
c.382G>C (p.Val128Leu)
c.226G>C (p.Val76Leu)
c.148G>C (p.Val50Leu)
n.668G>C
5g.56859718G>TCA359802317MAP3K1c.637G>T (p.Val213Leu)
c.259G>T (p.Val87Leu)
c.382G>T (p.Val128Leu)
c.226G>T (p.Val76Leu)
c.148G>T (p.Val50Leu)
n.668G>T
5g.56859719T>ACA359802318MAP3K1c.638T>A (p.Val213Glu)
c.260T>A (p.Val87Glu)
c.383T>A (p.Val128Glu)
c.227T>A (p.Val76Glu)
c.149T>A (p.Val50Glu)
n.669T>A
5g.56859719T>CCA359802319MAP3K1c.638T>C (p.Val213Ala)
c.260T>C (p.Val87Ala)
c.383T>C (p.Val128Ala)
c.227T>C (p.Val76Ala)
c.149T>C (p.Val50Ala)
n.669T>C
5g.56859719T>GCA359802320MAP3K1c.638T>G (p.Val213Gly)
c.260T>G (p.Val87Gly)
c.383T>G (p.Val128Gly)
c.227T>G (p.Val76Gly)
c.149T>G (p.Val50Gly)
n.669T>G
5g.56859719T=CA1548129181MAP3K1c.638T= (p.Val213=)
c.260T= (p.Val87=)
c.383T= (p.Val128=)
c.227T= (p.Val76=)
c.149T= (p.Val50=)
n.669T=
5g.56859720A>CCA444391606MAP3K1c.639A>C (p.Val213=)
c.261A>C (p.Val87=)
c.384A>C (p.Val128=)
c.228A>C (p.Val76=)
c.150A>C (p.Val50=)
n.670A>C
5g.56859720A>GCA444391607MAP3K1c.639A>G (p.Val213=)
c.261A>G (p.Val87=)
c.384A>G (p.Val128=)
c.228A>G (p.Val76=)
c.150A>G (p.Val50=)
n.670A>G
5g.56859720A>TCA444391605MAP3K1c.639A>T (p.Val213=)
c.261A>T (p.Val87=)
c.384A>T (p.Val128=)
c.228A>T (p.Val76=)
c.150A>T (p.Val50=)
n.670A>T
5g.56859723dupCA119520067MAP3K1c.642dup (p.Pro215ThrfsTer5)
c.264dup (p.Pro89ThrfsTer5)
c.387dup (p.Pro130ThrfsTer5)
c.231dup (p.Pro78ThrfsTer5)
c.153dup (p.Pro52ThrfsTer5)
n.673dup
dbSNP
5g.56859723delCA2708577969MAP3K1c.642del (p.Lys214AsnfsTer12)
c.264del (p.Lys88AsnfsTer12)
c.387del (p.Lys129AsnfsTer12)
c.231del (p.Lys77AsnfsTer12)
c.153del (p.Lys51AsnfsTer12)
n.673del
dbSNP
5g.56859721A>CCA359802322MAP3K1c.640A>C (p.Lys214Gln)
c.262A>C (p.Lys88Gln)
c.385A>C (p.Lys129Gln)
c.229A>C (p.Lys77Gln)
c.151A>C (p.Lys51Gln)
n.671A>C
5g.56859721A>GCA359802323MAP3K1c.640A>G (p.Lys214Glu)
c.262A>G (p.Lys88Glu)
c.385A>G (p.Lys129Glu)
c.229A>G (p.Lys77Glu)
c.151A>G (p.Lys51Glu)
n.671A>G
5g.56859721A>TCA359802321MAP3K1c.640A>T (p.Lys214Ter)
c.262A>T (p.Lys88Ter)
c.385A>T (p.Lys129Ter)
c.229A>T (p.Lys77Ter)
c.151A>T (p.Lys51Ter)
n.671A>T
5g.56859722A>CCA359802324MAP3K1c.641A>C (p.Lys214Thr)
c.263A>C (p.Lys88Thr)
c.386A>C (p.Lys129Thr)
c.230A>C (p.Lys77Thr)
c.152A>C (p.Lys51Thr)
n.672A>C
5g.56859722A>GCA359802325MAP3K1c.641A>G (p.Lys214Arg)
c.263A>G (p.Lys88Arg)
c.386A>G (p.Lys129Arg)
c.230A>G (p.Lys77Arg)
c.152A>G (p.Lys51Arg)
n.672A>G
5g.56859722A>TCA359802326MAP3K1c.641A>T (p.Lys214Ile)
c.263A>T (p.Lys88Ile)
c.386A>T (p.Lys129Ile)
c.230A>T (p.Lys77Ile)
c.152A>T (p.Lys51Ile)
n.672A>T
5g.56859723A>CCA359802327MAP3K1c.642A>C (p.Lys214Asn)
c.264A>C (p.Lys88Asn)
c.387A>C (p.Lys129Asn)
c.231A>C (p.Lys77Asn)
c.153A>C (p.Lys51Asn)
n.673A>C
gnomAD v4
5g.56859723A>GCA444391608MAP3K1c.642A>G (p.Lys214=)
c.264A>G (p.Lys88=)
c.387A>G (p.Lys129=)
c.231A>G (p.Lys77=)
c.153A>G (p.Lys51=)
n.673A>G
5g.56859723A>TCA359802328MAP3K1c.642A>T (p.Lys214Asn)
c.264A>T (p.Lys88Asn)
c.387A>T (p.Lys129Asn)
c.231A>T (p.Lys77Asn)
c.153A>T (p.Lys51Asn)
n.673A>T
5g.56859724C>ACA359802331MAP3K1c.643C>A (p.Pro215Thr)
c.265C>A (p.Pro89Thr)
c.388C>A (p.Pro130Thr)
c.232C>A (p.Pro78Thr)
c.154C>A (p.Pro52Thr)
n.674C>A
5g.56859724C=CA1548129182MAP3K1c.643C= (p.Pro215=)
c.265C= (p.Pro89=)
c.388C= (p.Pro130=)
c.232C= (p.Pro78=)
c.154C= (p.Pro52=)
n.674C=
5g.56859724C>GCA359802330MAP3K1c.643C>G (p.Pro215Ala)
c.265C>G (p.Pro89Ala)
c.388C>G (p.Pro130Ala)
c.232C>G (p.Pro78Ala)
c.154C>G (p.Pro52Ala)
n.674C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859724C>TCA359802329MAP3K1c.643C>T (p.Pro215Ser)
c.265C>T (p.Pro89Ser)
c.388C>T (p.Pro130Ser)
c.232C>T (p.Pro78Ser)
c.154C>T (p.Pro52Ser)
n.674C>T
5g.56859725C>ACA359802332MAP3K1c.644C>A (p.Pro215Gln)
c.266C>A (p.Pro89Gln)
c.389C>A (p.Pro130Gln)
c.233C>A (p.Pro78Gln)
c.155C>A (p.Pro52Gln)
n.675C>A
gnomAD v4 COSMIC
5g.56859725C>GCA359802333MAP3K1c.644C>G (p.Pro215Arg)
c.266C>G (p.Pro89Arg)
c.389C>G (p.Pro130Arg)
c.233C>G (p.Pro78Arg)
c.155C>G (p.Pro52Arg)
n.675C>G
5g.56859725C>TCA359802334MAP3K1c.644C>T (p.Pro215Leu)
c.266C>T (p.Pro89Leu)
c.389C>T (p.Pro130Leu)
c.233C>T (p.Pro78Leu)
c.155C>T (p.Pro52Leu)
n.675C>T
5g.56859726A>CCA444391609MAP3K1c.645A>C (p.Pro215=)
c.267A>C (p.Pro89=)
c.390A>C (p.Pro130=)
c.234A>C (p.Pro78=)
c.156A>C (p.Pro52=)
n.676A>C
5g.56859726A>GCA444391610MAP3K1c.645A>G (p.Pro215=)
c.267A>G (p.Pro89=)
c.390A>G (p.Pro130=)
c.234A>G (p.Pro78=)
c.156A>G (p.Pro52=)
n.676A>G
5g.56859726A>TCA444391611MAP3K1c.645A>T (p.Pro215=)
c.267A>T (p.Pro89=)
c.390A>T (p.Pro130=)
c.234A>T (p.Pro78=)
c.156A>T (p.Pro52=)
n.676A>T
5g.56859727A>CCA359802335MAP3K1c.646A>C (p.Ile216Leu)
c.268A>C (p.Ile90Leu)
c.391A>C (p.Ile131Leu)
c.235A>C (p.Ile79Leu)
c.157A>C (p.Ile53Leu)
n.677A>C
5g.56859727A>GCA359802336MAP3K1c.646A>G (p.Ile216Val)
c.268A>G (p.Ile90Val)
c.391A>G (p.Ile131Val)
c.235A>G (p.Ile79Val)
c.157A>G (p.Ile53Val)
n.677A>G
gnomAD v4
5g.56859727A>TCA359802337MAP3K1c.646A>T (p.Ile216Phe)
c.268A>T (p.Ile90Phe)
c.391A>T (p.Ile131Phe)
c.235A>T (p.Ile79Phe)
c.157A>T (p.Ile53Phe)
n.677A>T
5g.56859728T>ACA359802338MAP3K1c.647T>A (p.Ile216Asn)
c.269T>A (p.Ile90Asn)
c.392T>A (p.Ile131Asn)
c.236T>A (p.Ile79Asn)
c.158T>A (p.Ile53Asn)
n.678T>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.56859728T>CCA359802340MAP3K1c.647T>C (p.Ile216Thr)
c.269T>C (p.Ile90Thr)
c.392T>C (p.Ile131Thr)
c.236T>C (p.Ile79Thr)
c.158T>C (p.Ile53Thr)
n.678T>C
5g.56859728T>GCA359802339MAP3K1c.647T>G (p.Ile216Ser)
c.269T>G (p.Ile90Ser)
c.392T>G (p.Ile131Ser)
c.236T>G (p.Ile79Ser)
c.158T>G (p.Ile53Ser)
n.678T>G
5g.56859728T=CA1548129183MAP3K1c.647T= (p.Ile216=)
c.269T= (p.Ile90=)
c.392T= (p.Ile131=)
c.236T= (p.Ile79=)
c.158T= (p.Ile53=)
n.678T=
5g.56859729C>ACA444391612MAP3K1c.648C>A (p.Ile216=)
c.270C>A (p.Ile90=)
c.393C>A (p.Ile131=)
c.237C>A (p.Ile79=)
c.159C>A (p.Ile53=)
n.679C>A
5g.56859729C>GCA359802341MAP3K1c.648C>G (p.Ile216Met)
c.270C>G (p.Ile90Met)
c.393C>G (p.Ile131Met)
c.237C>G (p.Ile79Met)
c.159C>G (p.Ile53Met)
n.679C>G
5g.56859729C>TCA444391613MAP3K1c.648C>T (p.Ile216=)
c.270C>T (p.Ile90=)
c.393C>T (p.Ile131=)
c.237C>T (p.Ile79=)
c.159C>T (p.Ile53=)
n.679C>T
dbSNP
5g.56859731dupCA645563845MAP3K1c.650dup (p.Val218SerfsTer2)
c.272dup (p.Val92SerfsTer2)
c.395dup (p.Val133SerfsTer2)
c.239dup (p.Val81SerfsTer2)
c.161dup (p.Val55SerfsTer2)
n.681dup
COSMIC
5g.56859730C>ACA359802342MAP3K1c.649C>A (p.Pro217Thr)
c.271C>A (p.Pro91Thr)
c.394C>A (p.Pro132Thr)
c.238C>A (p.Pro80Thr)
c.160C>A (p.Pro54Thr)
n.680C>A
5g.56859730C>GCA359802343MAP3K1c.649C>G (p.Pro217Ala)
c.271C>G (p.Pro91Ala)
c.394C>G (p.Pro132Ala)
c.238C>G (p.Pro80Ala)
c.160C>G (p.Pro54Ala)
n.680C>G
5g.56859730C>TCA359802344MAP3K1c.649C>T (p.Pro217Ser)
c.271C>T (p.Pro91Ser)
c.394C>T (p.Pro132Ser)
c.238C>T (p.Pro80Ser)
c.160C>T (p.Pro54Ser)
n.680C>T
5g.56859731C>ACA359802345MAP3K1c.650C>A (p.Pro217Gln)
c.272C>A (p.Pro91Gln)
c.395C>A (p.Pro132Gln)
c.239C>A (p.Pro80Gln)
c.161C>A (p.Pro54Gln)
n.681C>A
5g.56859731C>GCA359802346MAP3K1c.650C>G (p.Pro217Arg)
c.272C>G (p.Pro91Arg)
c.395C>G (p.Pro132Arg)
c.239C>G (p.Pro80Arg)
c.161C>G (p.Pro54Arg)
n.681C>G
5g.56859731C>TCA359802347MAP3K1c.650C>T (p.Pro217Leu)
c.272C>T (p.Pro91Leu)
c.395C>T (p.Pro132Leu)
c.239C>T (p.Pro80Leu)
c.161C>T (p.Pro54Leu)
n.681C>T
dbSNP gnomAD v4
5g.56859732A>CCA444391614MAP3K1c.651A>C (p.Pro217=)
c.273A>C (p.Pro91=)
c.396A>C (p.Pro132=)
c.240A>C (p.Pro80=)
c.162A>C (p.Pro54=)
n.682A>C
5g.56859732A>GCA444391615MAP3K1c.651A>G (p.Pro217=)
c.273A>G (p.Pro91=)
c.396A>G (p.Pro132=)
c.240A>G (p.Pro80=)
c.162A>G (p.Pro54=)
n.682A>G
gnomAD v4
5g.56859732A>TCA444391616MAP3K1c.651A>T (p.Pro217=)
c.273A>T (p.Pro91=)
c.396A>T (p.Pro132=)
c.240A>T (p.Pro80=)
c.162A>T (p.Pro54=)
n.682A>T
5g.56859733G>ACA359802348MAP3K1c.652G>A (p.Val218Ile)
c.274G>A (p.Val92Ile)
c.397G>A (p.Val133Ile)
c.241G>A (p.Val81Ile)
c.163G>A (p.Val55Ile)
n.683G>A
dbSNP
5g.56859733G>CCA359802349MAP3K1c.652G>C (p.Val218Leu)
c.274G>C (p.Val92Leu)
c.397G>C (p.Val133Leu)
c.241G>C (p.Val81Leu)
c.163G>C (p.Val55Leu)
n.683G>C
5g.56859733G=CA1548129184MAP3K1c.652G= (p.Val218=)
c.274G= (p.Val92=)
c.397G= (p.Val133=)
c.241G= (p.Val81=)
c.163G= (p.Val55=)
n.683G=
5g.56859733G>TCA359802350MAP3K1c.652G>T (p.Val218Phe)
c.274G>T (p.Val92Phe)
c.397G>T (p.Val133Phe)
c.241G>T (p.Val81Phe)
c.163G>T (p.Val55Phe)
n.683G>T
5g.56859734T>ACA359802351MAP3K1c.653T>A (p.Val218Asp)
c.275T>A (p.Val92Asp)
c.398T>A (p.Val133Asp)
c.242T>A (p.Val81Asp)
c.164T>A (p.Val55Asp)
n.684T>A
5g.56859734T>CCA359802352MAP3K1c.653T>C (p.Val218Ala)
c.275T>C (p.Val92Ala)
c.398T>C (p.Val133Ala)
c.242T>C (p.Val81Ala)
c.164T>C (p.Val55Ala)
n.684T>C
5g.56859734T>GCA359802353MAP3K1c.653T>G (p.Val218Gly)
c.275T>G (p.Val92Gly)
c.398T>G (p.Val133Gly)
c.242T>G (p.Val81Gly)
c.164T>G (p.Val55Gly)
n.684T>G
5g.56859735T>ACA444391617MAP3K1c.654T>A (p.Val218=)
c.276T>A (p.Val92=)
c.399T>A (p.Val133=)
c.243T>A (p.Val81=)
c.165T>A (p.Val55=)
n.685T>A
5g.56859735T>CCA444391618MAP3K1c.654T>C (p.Val218=)
c.276T>C (p.Val92=)
c.399T>C (p.Val133=)
c.243T>C (p.Val81=)
c.165T>C (p.Val55=)
n.685T>C
dbSNP gnomAD v3 gnomAD v4
5g.56859735T>GCA444391619MAP3K1c.654T>G (p.Val218=)
c.276T>G (p.Val92=)
c.399T>G (p.Val133=)
c.243T>G (p.Val81=)
c.165T>G (p.Val55=)
n.685T>G
5g.56859735T=CA1548129185MAP3K1c.654T= (p.Val218=)
c.276T= (p.Val92=)
c.399T= (p.Val133=)
c.243T= (p.Val81=)
c.165T= (p.Val55=)
n.685T=
5g.56859736A=CA1548129186MAP3K1c.655A= (p.Lys219=)
c.277A= (p.Lys93=)
c.400A= (p.Lys134=)
c.244A= (p.Lys82=)
c.166A= (p.Lys56=)
n.686A=
5g.56859736A>CCA359802355MAP3K1c.655A>C (p.Lys219Gln)
c.277A>C (p.Lys93Gln)
c.400A>C (p.Lys134Gln)
c.244A>C (p.Lys82Gln)
c.166A>C (p.Lys56Gln)
n.686A>C
5g.56859736A>GCA359802356MAP3K1c.655A>G (p.Lys219Glu)
c.277A>G (p.Lys93Glu)
c.400A>G (p.Lys134Glu)
c.244A>G (p.Lys82Glu)
c.166A>G (p.Lys56Glu)
n.686A>G
dbSNP gnomAD v4
5g.56859736A>TCA359802354MAP3K1c.655A>T (p.Lys219Ter)
c.277A>T (p.Lys93Ter)
c.400A>T (p.Lys134Ter)
c.244A>T (p.Lys82Ter)
c.166A>T (p.Lys56Ter)
n.686A>T
5g.56859737A>CCA359802358MAP3K1c.656A>C (p.Lys219Thr)
c.278A>C (p.Lys93Thr)
c.401A>C (p.Lys134Thr)
c.245A>C (p.Lys82Thr)
c.167A>C (p.Lys56Thr)
n.687A>C
5g.56859737A>GCA359802357MAP3K1c.656A>G (p.Lys219Arg)
c.278A>G (p.Lys93Arg)
c.401A>G (p.Lys134Arg)
c.245A>G (p.Lys82Arg)
c.167A>G (p.Lys56Arg)
n.687A>G
5g.56859737A>TCA359802359MAP3K1c.656A>T (p.Lys219Ile)
c.278A>T (p.Lys93Ile)
c.401A>T (p.Lys134Ile)
c.245A>T (p.Lys82Ile)
c.167A>T (p.Lys56Ile)
n.687A>T
5g.56859738A>CCA359802360MAP3K1c.657A>C (p.Lys219Asn)
c.279A>C (p.Lys93Asn)
c.402A>C (p.Lys134Asn)
c.246A>C (p.Lys82Asn)
c.168A>C (p.Lys56Asn)
n.688A>C
5g.56859738A>GCA444391620MAP3K1c.657A>G (p.Lys219=)
c.279A>G (p.Lys93=)
c.402A>G (p.Lys134=)
c.246A>G (p.Lys82=)
c.168A>G (p.Lys56=)
n.688A>G
5g.56859738A>TCA359802361MAP3K1c.657A>T (p.Lys219Asn)
c.279A>T (p.Lys93Asn)
c.402A>T (p.Lys134Asn)
c.246A>T (p.Lys82Asn)
c.168A>T (p.Lys56Asn)
n.688A>T
5g.56859739G>ACA3272582MAP3K1c.658G>A (p.Gly220Arg)
c.280G>A (p.Gly94Arg)
c.403G>A (p.Gly135Arg)
c.247G>A (p.Gly83Arg)
c.169G>A (p.Gly57Arg)
n.689G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859739G>CCA359802363MAP3K1c.658G>C (p.Gly220Arg)
c.280G>C (p.Gly94Arg)
c.403G>C (p.Gly135Arg)
c.247G>C (p.Gly83Arg)
c.169G>C (p.Gly57Arg)
n.689G>C
5g.56859739G=CA1548129187MAP3K1c.658G= (p.Gly220=)
c.280G= (p.Gly94=)
c.403G= (p.Gly135=)
c.247G= (p.Gly83=)
c.169G= (p.Gly57=)
n.689G=
5g.56859739G>TCA359802362MAP3K1c.658G>T (p.Gly220Ter)
c.280G>T (p.Gly94Ter)
c.403G>T (p.Gly135Ter)
c.247G>T (p.Gly83Ter)
c.169G>T (p.Gly57Ter)
n.689G>T
5g.56859740delCA2673908357MAP3K1c.659del (p.Gly220GlufsTer6)
c.281del (p.Gly94GlufsTer6)
c.404del (p.Gly135GlufsTer6)
c.248del (p.Gly83GlufsTer6)
c.170del (p.Gly57GlufsTer6)
n.690del
gnomAD v4
5g.56859740G>ACA359802364MAP3K1c.659G>A (p.Gly220Glu)
c.281G>A (p.Gly94Glu)
c.404G>A (p.Gly135Glu)
c.248G>A (p.Gly83Glu)
c.170G>A (p.Gly57Glu)
n.690G>A
5g.56859740G>CCA359802366MAP3K1c.659G>C (p.Gly220Ala)
c.281G>C (p.Gly94Ala)
c.404G>C (p.Gly135Ala)
c.248G>C (p.Gly83Ala)
c.170G>C (p.Gly57Ala)
n.690G>C
5g.56859740G=CA1548129188MAP3K1c.659G= (p.Gly220=)
c.281G= (p.Gly94=)
c.404G= (p.Gly135=)
c.248G= (p.Gly83=)
c.170G= (p.Gly57=)
n.690G=
5g.56859740G>TCA359802365MAP3K1c.659G>T (p.Gly220Val)
c.281G>T (p.Gly94Val)
c.404G>T (p.Gly135Val)
c.248G>T (p.Gly83Val)
c.170G>T (p.Gly57Val)
n.690G>T
dbSNP gnomAD v3 gnomAD v4
5g.56859741A>CCA444391623MAP3K1c.660A>C (p.Gly220=)
c.282A>C (p.Gly94=)
c.405A>C (p.Gly135=)
c.249A>C (p.Gly83=)
c.171A>C (p.Gly57=)
n.691A>C
5g.56859741A>GCA444391622MAP3K1c.660A>G (p.Gly220=)
c.282A>G (p.Gly94=)
c.405A>G (p.Gly135=)
c.249A>G (p.Gly83=)
c.171A>G (p.Gly57=)
n.691A>G
5g.56859741A>TCA444391621MAP3K1c.660A>T (p.Gly220=)
c.282A>T (p.Gly94=)
c.405A>T (p.Gly135=)
c.249A>T (p.Gly83=)
c.171A>T (p.Gly57=)
n.691A>T
5g.56859742G>ACA359802367MAP3K1c.661G>A (p.Asp221Asn)
c.283G>A (p.Asp95Asn)
c.406G>A (p.Asp136Asn)
c.250G>A (p.Asp84Asn)
c.172G>A (p.Asp58Asn)
n.692G>A
5g.56859742G>CCA359802368MAP3K1c.661G>C (p.Asp221His)
c.283G>C (p.Asp95His)
c.406G>C (p.Asp136His)
c.250G>C (p.Asp84His)
c.172G>C (p.Asp58His)
n.692G>C
5g.56859742G>TCA359802369MAP3K1c.661G>T (p.Asp221Tyr)
c.283G>T (p.Asp95Tyr)
c.406G>T (p.Asp136Tyr)
c.250G>T (p.Asp84Tyr)
c.172G>T (p.Asp58Tyr)
n.692G>T
5g.56859743A=CA1548129189MAP3K1c.662A= (p.Asp221=)
c.284A= (p.Asp95=)
c.407A= (p.Asp136=)
c.251A= (p.Asp84=)
c.173A= (p.Asp58=)
n.693A=
5g.56859743A>CCA359802370MAP3K1c.662A>C (p.Asp221Ala)
c.284A>C (p.Asp95Ala)
c.407A>C (p.Asp136Ala)
c.251A>C (p.Asp84Ala)
c.173A>C (p.Asp58Ala)
n.693A>C
5g.56859743A>GCA359802371MAP3K1c.662A>G (p.Asp221Gly)
c.284A>G (p.Asp95Gly)
c.407A>G (p.Asp136Gly)
c.251A>G (p.Asp84Gly)
c.173A>G (p.Asp58Gly)
n.693A>G
ClinVar gnomAD v4
5g.56859743A>TCA3272583MAP3K1c.662A>T (p.Asp221Val)
c.284A>T (p.Asp95Val)
c.407A>T (p.Asp136Val)
c.251A>T (p.Asp84Val)
c.173A>T (p.Asp58Val)
n.693A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859744T>ACA359802373MAP3K1c.663T>A (p.Asp221Glu)
c.285T>A (p.Asp95Glu)
c.408T>A (p.Asp136Glu)
c.252T>A (p.Asp84Glu)
c.174T>A (p.Asp58Glu)
n.694T>A
5g.56859744T>CCA444391624MAP3K1c.663T>C (p.Asp221=)
c.285T>C (p.Asp95=)
c.408T>C (p.Asp136=)
c.252T>C (p.Asp84=)
c.174T>C (p.Asp58=)
n.694T>C
5g.56859744T>GCA359802372MAP3K1c.663T>G (p.Asp221Glu)
c.285T>G (p.Asp95Glu)
c.408T>G (p.Asp136Glu)
c.252T>G (p.Asp84Glu)
c.174T>G (p.Asp58Glu)
n.694T>G
5g.56859745G>ACA359802374MAP3K1c.664G>A (p.Gly222Arg)
c.286G>A (p.Gly96Arg)
c.409G>A (p.Gly137Arg)
c.253G>A (p.Gly85Arg)
c.175G>A (p.Gly59Arg)
n.695G>A
5g.56859745G>CCA359802375MAP3K1c.664G>C (p.Gly222Arg)
c.286G>C (p.Gly96Arg)
c.409G>C (p.Gly137Arg)
c.253G>C (p.Gly85Arg)
c.175G>C (p.Gly59Arg)
n.695G>C
5g.56859745G>TCA359802376MAP3K1c.664G>T (p.Gly222Ter)
c.286G>T (p.Gly96Ter)
c.409G>T (p.Gly137Ter)
c.253G>T (p.Gly85Ter)
c.175G>T (p.Gly59Ter)
n.695G>T
dbSNP
5g.56859746delCA444391625MAP3K1c.665del (p.Gly222AspfsTer4)
c.287del (p.Gly96AspfsTer4)
c.410del (p.Gly137AspfsTer4)
c.254del (p.Gly85AspfsTer4)
c.176del (p.Gly59AspfsTer4)
n.696del
COSMIC
5g.56859746G>ACA359802377MAP3K1c.665G>A (p.Gly222Glu)
c.287G>A (p.Gly96Glu)
c.410G>A (p.Gly137Glu)
c.254G>A (p.Gly85Glu)
c.176G>A (p.Gly59Glu)
n.696G>A
dbSNP
5g.56859746G>CCA359802378MAP3K1c.665G>C (p.Gly222Ala)
c.287G>C (p.Gly96Ala)
c.410G>C (p.Gly137Ala)
c.254G>C (p.Gly85Ala)
c.176G>C (p.Gly59Ala)
n.696G>C
dbSNP
5g.56859746G=CA1548129190MAP3K1c.665G= (p.Gly222=)
c.287G= (p.Gly96=)
c.410G= (p.Gly137=)
c.254G= (p.Gly85=)
c.176G= (p.Gly59=)
n.696G=
5g.56859746G>TCA359802379MAP3K1c.665G>T (p.Gly222Val)
c.287G>T (p.Gly96Val)
c.410G>T (p.Gly137Val)
c.254G>T (p.Gly85Val)
c.176G>T (p.Gly59Val)
n.696G>T
dbSNP gnomAD v2 gnomAD v4
5g.56859747A>CCA444391626MAP3K1c.666A>C (p.Gly222=)
c.288A>C (p.Gly96=)
c.411A>C (p.Gly137=)
c.255A>C (p.Gly85=)
c.177A>C (p.Gly59=)
n.697A>C
5g.56859747A>GCA444391627MAP3K1c.666A>G (p.Gly222=)
c.288A>G (p.Gly96=)
c.411A>G (p.Gly137=)
c.255A>G (p.Gly85=)
c.177A>G (p.Gly59=)
n.697A>G
5g.56859747A>TCA444391628MAP3K1c.666A>T (p.Gly222=)
c.288A>T (p.Gly96=)
c.411A>T (p.Gly137=)
c.255A>T (p.Gly85=)
c.177A>T (p.Gly59=)
n.697A>T
gnomAD v4
5g.56859748T>ACA359802380MAP3K1c.667T>A (p.Ser223Thr)
c.289T>A (p.Ser97Thr)
c.412T>A (p.Ser138Thr)
c.256T>A (p.Ser86Thr)
c.178T>A (p.Ser60Thr)
n.698T>A
5g.56859748T>CCA359802382MAP3K1c.667T>C (p.Ser223Pro)
c.289T>C (p.Ser97Pro)
c.412T>C (p.Ser138Pro)
c.256T>C (p.Ser86Pro)
c.178T>C (p.Ser60Pro)
n.698T>C
5g.56859748T>GCA359802381MAP3K1c.667T>G (p.Ser223Ala)
c.289T>G (p.Ser97Ala)
c.412T>G (p.Ser138Ala)
c.256T>G (p.Ser86Ala)
c.178T>G (p.Ser60Ala)
n.698T>G
5g.56859749C>ACA359802383MAP3K1c.668C>A (p.Ser223Tyr)
c.290C>A (p.Ser97Tyr)
c.413C>A (p.Ser138Tyr)
c.257C>A (p.Ser86Tyr)
c.179C>A (p.Ser60Tyr)
n.699C>A
dbSNP
5g.56859749C=CA1548129191MAP3K1c.668C= (p.Ser223=)
c.290C= (p.Ser97=)
c.413C= (p.Ser138=)
c.257C= (p.Ser86=)
c.179C= (p.Ser60=)
n.699C=
5g.56859749C>GCA359802384MAP3K1c.668C>G (p.Ser223Cys)
c.290C>G (p.Ser97Cys)
c.413C>G (p.Ser138Cys)
c.257C>G (p.Ser86Cys)
c.179C>G (p.Ser60Cys)
n.699C>G
dbSNP gnomAD v3 gnomAD v4
5g.56859749C>TCA359802385MAP3K1c.668C>T (p.Ser223Phe)
c.290C>T (p.Ser97Phe)
c.413C>T (p.Ser138Phe)
c.257C>T (p.Ser86Phe)
c.179C>T (p.Ser60Phe)
n.699C>T
dbSNP
5g.56859750T>ACA444391630MAP3K1c.669T>A (p.Ser223=)
c.291T>A (p.Ser97=)
c.414T>A (p.Ser138=)
c.258T>A (p.Ser86=)
c.180T>A (p.Ser60=)
n.700T>A
5g.56859750T>CCA444391631MAP3K1c.669T>C (p.Ser223=)
c.291T>C (p.Ser97=)
c.414T>C (p.Ser138=)
c.258T>C (p.Ser86=)
c.180T>C (p.Ser60=)
n.700T>C
5g.56859750T>GCA444391632MAP3K1c.669T>G (p.Ser223=)
c.291T>G (p.Ser97=)
c.414T>G (p.Ser138=)
c.258T>G (p.Ser86=)
c.180T>G (p.Ser60=)
n.700T>G
gnomAD v4
5g.56859751G>ACA359802386MAP3K1c.670G>A (p.Glu224Lys)
c.292G>A (p.Glu98Lys)
c.415G>A (p.Glu139Lys)
c.259G>A (p.Glu87Lys)
c.181G>A (p.Glu61Lys)
n.701G>A
5g.56859751G>CCA3272584MAP3K1c.670G>C (p.Glu224Gln)
c.292G>C (p.Glu98Gln)
c.415G>C (p.Glu139Gln)
c.259G>C (p.Glu87Gln)
c.181G>C (p.Glu61Gln)
n.701G>C
dbSNP ExAC gnomAD v2
5g.56859751G=CA1548129192MAP3K1c.670G= (p.Glu224=)
c.292G= (p.Glu98=)
c.415G= (p.Glu139=)
c.259G= (p.Glu87=)
c.181G= (p.Glu61=)
n.701G=
5g.56859751G>TCA359802387MAP3K1c.670G>T (p.Glu224Ter)
c.292G>T (p.Glu98Ter)
c.415G>T (p.Glu139Ter)
c.259G>T (p.Glu87Ter)
c.181G>T (p.Glu61Ter)
n.701G>T
5g.56859752A=CA1548129193MAP3K1c.671A= (p.Glu224=)
c.293A= (p.Glu98=)
c.416A= (p.Glu139=)
c.260A= (p.Glu87=)
c.182A= (p.Glu61=)
n.702A=
5g.56859752A>CCA359802388MAP3K1c.671A>C (p.Glu224Ala)
c.293A>C (p.Glu98Ala)
c.416A>C (p.Glu139Ala)
c.260A>C (p.Glu87Ala)
c.182A>C (p.Glu61Ala)
n.702A>C
5g.56859752A>GCA3272585MAP3K1c.671A>G (p.Glu224Gly)
c.293A>G (p.Glu98Gly)
c.416A>G (p.Glu139Gly)
c.260A>G (p.Glu87Gly)
c.182A>G (p.Glu61Gly)
n.702A>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859752A>TCA359802389MAP3K1c.671A>T (p.Glu224Val)
c.293A>T (p.Glu98Val)
c.416A>T (p.Glu139Val)
c.260A>T (p.Glu87Val)
c.182A>T (p.Glu61Val)
n.702A>T
5g.56859753A>CCA359802390MAP3K1c.672A>C (p.Glu224Asp)
c.294A>C (p.Glu98Asp)
c.417A>C (p.Glu139Asp)
c.261A>C (p.Glu87Asp)
c.183A>C (p.Glu61Asp)
n.703A>C
5g.56859753A>GCA444391634MAP3K1c.672A>G (p.Glu224=)
c.294A>G (p.Glu98=)
c.417A>G (p.Glu139=)
c.261A>G (p.Glu87=)
c.183A>G (p.Glu61=)
n.703A>G
5g.56859753A>TCA359802391MAP3K1c.672A>T (p.Glu224Asp)
c.294A>T (p.Glu98Asp)
c.417A>T (p.Glu139Asp)
c.261A>T (p.Glu87Asp)
c.183A>T (p.Glu61Asp)
n.703A>T
5g.56859754A=CA1548129194MAP3K1c.673A= (p.Met225=)
c.295A= (p.Met99=)
c.418A= (p.Met140=)
c.262A= (p.Met88=)
c.184A= (p.Met62=)
n.704A=
5g.56859754A>CCA359802392MAP3K1c.673A>C (p.Met225Leu)
c.295A>C (p.Met99Leu)
c.418A>C (p.Met140Leu)
c.262A>C (p.Met88Leu)
c.184A>C (p.Met62Leu)
n.704A>C
5g.56859754A>GCA359802394MAP3K1c.673A>G (p.Met225Val)
c.295A>G (p.Met99Val)
c.418A>G (p.Met140Val)
c.262A>G (p.Met88Val)
c.184A>G (p.Met62Val)
n.704A>G
dbSNP gnomAD v4
5g.56859754A>TCA359802393MAP3K1c.673A>T (p.Met225Leu)
c.295A>T (p.Met99Leu)
c.418A>T (p.Met140Leu)
c.262A>T (p.Met88Leu)
c.184A>T (p.Met62Leu)
n.704A>T
gnomAD v4
5g.56859755T>ACA359802395MAP3K1c.674T>A (p.Met225Lys)
c.296T>A (p.Met99Lys)
c.419T>A (p.Met140Lys)
c.263T>A (p.Met88Lys)
c.185T>A (p.Met62Lys)
n.705T>A
5g.56859755T>CCA3272586MAP3K1c.674T>C (p.Met225Thr)
c.296T>C (p.Met99Thr)
c.419T>C (p.Met140Thr)
c.263T>C (p.Met88Thr)
c.185T>C (p.Met62Thr)
n.705T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859755T>GCA359802396MAP3K1c.674T>G (p.Met225Arg)
c.296T>G (p.Met99Arg)
c.419T>G (p.Met140Arg)
c.263T>G (p.Met88Arg)
c.185T>G (p.Met62Arg)
n.705T>G
5g.56859755T=CA1548129195MAP3K1c.674T= (p.Met225=)
c.296T= (p.Met99=)
c.419T= (p.Met140=)
c.263T= (p.Met88=)
c.185T= (p.Met62=)
n.705T=
5g.56859756G>ACA359802397MAP3K1c.675G>A (p.Met225Ile)
c.297G>A (p.Met99Ile)
c.420G>A (p.Met140Ile)
c.264G>A (p.Met88Ile)
c.186G>A (p.Met62Ile)
n.706G>A
COSMIC
5g.56859756G>CCA359802398MAP3K1c.675G>C (p.Met225Ile)
c.297G>C (p.Met99Ile)
c.420G>C (p.Met140Ile)
c.264G>C (p.Met88Ile)
c.186G>C (p.Met62Ile)
n.706G>C
5g.56859756G=CA1548129196MAP3K1c.675G= (p.Met225=)
c.297G= (p.Met99=)
c.420G= (p.Met140=)
c.264G= (p.Met88=)
c.186G= (p.Met62=)
n.706G=
5g.56859756G>TCA119520073MAP3K1c.675G>T (p.Met225Ile)
c.297G>T (p.Met99Ile)
c.420G>T (p.Met140Ile)
c.264G>T (p.Met88Ile)
c.186G>T (p.Met62Ile)
n.706G>T
dbSNP gnomAD v4
5g.56859757A>CCA359802399MAP3K1c.676A>C (p.Asn226His)
c.298A>C (p.Asn100His)
c.421A>C (p.Asn141His)
c.265A>C (p.Asn89His)
c.187A>C (p.Asn63His)
n.707A>C
5g.56859757A>GCA359802400MAP3K1c.676A>G (p.Asn226Asp)
c.298A>G (p.Asn100Asp)
c.421A>G (p.Asn141Asp)
c.265A>G (p.Asn89Asp)
c.187A>G (p.Asn63Asp)
n.707A>G
gnomAD v4
5g.56859757A>TCA359802401MAP3K1c.676A>T (p.Asn226Tyr)
c.298A>T (p.Asn100Tyr)
c.421A>T (p.Asn141Tyr)
c.265A>T (p.Asn89Tyr)
c.187A>T (p.Asn63Tyr)
n.707A>T
5g.56859758A>CCA359802402MAP3K1c.677A>C (p.Asn226Thr)
c.299A>C (p.Asn100Thr)
c.422A>C (p.Asn141Thr)
c.266A>C (p.Asn89Thr)
c.188A>C (p.Asn63Thr)
n.708A>C
5g.56859758A>GCA359802403MAP3K1c.677A>G (p.Asn226Ser)
c.299A>G (p.Asn100Ser)
c.422A>G (p.Asn141Ser)
c.266A>G (p.Asn89Ser)
c.188A>G (p.Asn63Ser)
n.708A>G
5g.56859758A>TCA359802404MAP3K1c.677A>T (p.Asn226Ile)
c.299A>T (p.Asn100Ile)
c.422A>T (p.Asn141Ile)
c.266A>T (p.Asn89Ile)
c.188A>T (p.Asn63Ile)
n.708A>T
5g.56859759T>ACA359802406MAP3K1c.678T>A (p.Asn226Lys)
c.300T>A (p.Asn100Lys)
c.423T>A (p.Asn141Lys)
c.267T>A (p.Asn89Lys)
c.189T>A (p.Asn63Lys)
n.709T>A
5g.56859759T>CCA444391636MAP3K1c.678T>C (p.Asn226=)
c.300T>C (p.Asn100=)
c.423T>C (p.Asn141=)
c.267T>C (p.Asn89=)
c.189T>C (p.Asn63=)
n.709T>C
5g.56859759T>GCA359802405MAP3K1c.678T>G (p.Asn226Lys)
c.300T>G (p.Asn100Lys)
c.423T>G (p.Asn141Lys)
c.267T>G (p.Asn89Lys)
c.189T>G (p.Asn63Lys)
n.709T>G
5g.56859760C>ACA359802407MAP3K1c.679C>A (p.His227Asn)
c.301C>A (p.His101Asn)
c.424C>A (p.His142Asn)
c.268C>A (p.His90Asn)
c.190C>A (p.His64Asn)
n.710C>A
5g.56859760C>GCA359802408MAP3K1c.679C>G (p.His227Asp)
c.301C>G (p.His101Asp)
c.424C>G (p.His142Asp)
c.268C>G (p.His90Asp)
c.190C>G (p.His64Asp)
n.710C>G
5g.56859760C>TCA359802409MAP3K1c.679C>T (p.His227Tyr)
c.301C>T (p.His101Tyr)
c.424C>T (p.His142Tyr)
c.268C>T (p.His90Tyr)
c.190C>T (p.His64Tyr)
n.710C>T
5g.56859761A>CCA359802410MAP3K1c.680A>C (p.His227Pro)
c.302A>C (p.His101Pro)
c.425A>C (p.His142Pro)
c.269A>C (p.His90Pro)
c.191A>C (p.His64Pro)
n.711A>C
5g.56859761A>GCA359802411MAP3K1c.680A>G (p.His227Arg)
c.302A>G (p.His101Arg)
c.425A>G (p.His142Arg)
c.269A>G (p.His90Arg)
c.191A>G (p.His64Arg)
n.711A>G
5g.56859761A>TCA359802412MAP3K1c.680A>T (p.His227Leu)
c.302A>T (p.His101Leu)
c.425A>T (p.His142Leu)
c.269A>T (p.His90Leu)
c.191A>T (p.His64Leu)
n.711A>T
5g.56859762C>ACA359802413MAP3K1c.681C>A (p.His227Gln)
c.303C>A (p.His101Gln)
c.426C>A (p.His142Gln)
c.270C>A (p.His90Gln)
c.192C>A (p.His64Gln)
n.712C>A
5g.56859762C=CA1548129197MAP3K1c.681C= (p.His227=)
c.303C= (p.His101=)
c.426C= (p.His142=)
c.270C= (p.His90=)
c.192C= (p.His64=)
n.712C=
5g.56859762C>GCA359802414MAP3K1c.681C>G (p.His227Gln)
c.303C>G (p.His101Gln)
c.426C>G (p.His142Gln)
c.270C>G (p.His90Gln)
c.192C>G (p.His64Gln)
n.712C>G
5g.56859762C>TCA3272587MAP3K1c.681C>T (p.His227=)
c.303C>T (p.His101=)
c.426C>T (p.His142=)
c.270C>T (p.His90=)
c.192C>T (p.His64=)
n.712C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859763T>ACA359802415MAP3K1c.682T>A (p.Leu228Ile)
c.304T>A (p.Leu102Ile)
c.427T>A (p.Leu143Ile)
c.271T>A (p.Leu91Ile)
c.193T>A (p.Leu65Ile)
n.713T>A
5g.56859763T>CCA444391640MAP3K1c.682T>C (p.Leu228=)
c.304T>C (p.Leu102=)
c.427T>C (p.Leu143=)
c.271T>C (p.Leu91=)
c.193T>C (p.Leu65=)
n.713T>C
5g.56859763T>GCA359802416MAP3K1c.682T>G (p.Leu228Val)
c.304T>G (p.Leu102Val)
c.427T>G (p.Leu143Val)
c.271T>G (p.Leu91Val)
c.193T>G (p.Leu65Val)
n.713T>G
5g.56859764T>ACA359802419MAP3K1c.683T>A (p.Leu228Ter)
c.305T>A (p.Leu102Ter)
c.428T>A (p.Leu143Ter)
c.272T>A (p.Leu91Ter)
c.194T>A (p.Leu65Ter)
n.714T>A
5g.56859764T>CCA359802418MAP3K1c.683T>C (p.Leu228Ser)
c.305T>C (p.Leu102Ser)
c.428T>C (p.Leu143Ser)
c.272T>C (p.Leu91Ser)
c.194T>C (p.Leu65Ser)
n.714T>C
5g.56859764T>GCA359802417MAP3K1c.683T>G (p.Leu228Ter)
c.305T>G (p.Leu102Ter)
c.428T>G (p.Leu143Ter)
c.272T>G (p.Leu91Ter)
c.194T>G (p.Leu65Ter)
n.714T>G
5g.56859765A>CCA359802420MAP3K1c.684A>C (p.Leu228Phe)
c.306A>C (p.Leu102Phe)
c.429A>C (p.Leu143Phe)
c.273A>C (p.Leu91Phe)
c.195A>C (p.Leu65Phe)
n.715A>C
5g.56859765A>GCA444391641MAP3K1c.684A>G (p.Leu228=)
c.306A>G (p.Leu102=)
c.429A>G (p.Leu143=)
c.273A>G (p.Leu91=)
c.195A>G (p.Leu65=)
n.715A>G
5g.56859765A>TCA359802421MAP3K1c.684A>T (p.Leu228Phe)
c.306A>T (p.Leu102Phe)
c.429A>T (p.Leu143Phe)
c.273A>T (p.Leu91Phe)
c.195A>T (p.Leu65Phe)
n.715A>T
5g.56859768_56859770delCA2673908358MAP3K1c.687_689del (p.Ala230del)
c.309_311del (p.Ala104del)
c.432_434del (p.Ala145del)
c.276_278del (p.Ala93del)
c.198_200del (p.Ala67del)
n.718_720del
gnomAD v4
5g.56859766G>ACA359802422MAP3K1c.685G>A (p.Ala229Thr)
c.307G>A (p.Ala103Thr)
c.430G>A (p.Ala144Thr)
c.274G>A (p.Ala92Thr)
c.196G>A (p.Ala66Thr)
n.716G>A
5g.56859766G>CCA359802423MAP3K1c.685G>C (p.Ala229Pro)
c.307G>C (p.Ala103Pro)
c.430G>C (p.Ala144Pro)
c.274G>C (p.Ala92Pro)
c.196G>C (p.Ala66Pro)
n.716G>C
gnomAD v4
5g.56859766G>TCA359802424MAP3K1c.685G>T (p.Ala229Ser)
c.307G>T (p.Ala103Ser)
c.430G>T (p.Ala144Ser)
c.274G>T (p.Ala92Ser)
c.196G>T (p.Ala66Ser)
n.716G>T
5g.56859767C>ACA359802425MAP3K1c.686C>A (p.Ala229Glu)
c.308C>A (p.Ala103Glu)
c.431C>A (p.Ala144Glu)
c.275C>A (p.Ala92Glu)
c.197C>A (p.Ala66Glu)
n.717C>A
5g.56859767C=CA1548129198MAP3K1c.686C= (p.Ala229=)
c.308C= (p.Ala103=)
c.431C= (p.Ala144=)
c.275C= (p.Ala92=)
c.197C= (p.Ala66=)
n.717C=
5g.56859767C>GCA359802426MAP3K1c.686C>G (p.Ala229Gly)
c.308C>G (p.Ala103Gly)
c.431C>G (p.Ala144Gly)
c.275C>G (p.Ala92Gly)
c.197C>G (p.Ala66Gly)
n.717C>G
5g.56859767C>TCA359802427MAP3K1c.686C>T (p.Ala229Val)
c.308C>T (p.Ala103Val)
c.431C>T (p.Ala144Val)
c.275C>T (p.Ala92Val)
c.197C>T (p.Ala66Val)
n.717C>T
ClinVar dbSNP
5g.56859768A>CCA444391645MAP3K1c.687A>C (p.Ala229=)
c.309A>C (p.Ala103=)
c.432A>C (p.Ala144=)
c.276A>C (p.Ala92=)
c.198A>C (p.Ala66=)
n.718A>C
5g.56859768A>GCA444391644MAP3K1c.687A>G (p.Ala229=)
c.309A>G (p.Ala103=)
c.432A>G (p.Ala144=)
c.276A>G (p.Ala92=)
c.198A>G (p.Ala66=)
n.718A>G
5g.56859768A>TCA444391643MAP3K1c.687A>T (p.Ala229=)
c.309A>T (p.Ala103=)
c.432A>T (p.Ala144=)
c.276A>T (p.Ala92=)
c.198A>T (p.Ala66=)
n.718A>T
5g.56859769G>ACA359802428MAP3K1c.688G>A (p.Ala230Thr)
c.310G>A (p.Ala104Thr)
c.433G>A (p.Ala145Thr)
c.277G>A (p.Ala93Thr)
c.199G>A (p.Ala67Thr)
n.719G>A
gnomAD v4
5g.56859769G>CCA359802429MAP3K1c.688G>C (p.Ala230Pro)
c.310G>C (p.Ala104Pro)
c.433G>C (p.Ala145Pro)
c.277G>C (p.Ala93Pro)
c.199G>C (p.Ala67Pro)
n.719G>C
dbSNP
5g.56859769G>TCA359802430MAP3K1c.688G>T (p.Ala230Ser)
c.310G>T (p.Ala104Ser)
c.433G>T (p.Ala145Ser)
c.277G>T (p.Ala93Ser)
c.199G>T (p.Ala67Ser)
n.719G>T
5g.56859770C>ACA359802431MAP3K1c.689C>A (p.Ala230Asp)
c.311C>A (p.Ala104Asp)
c.434C>A (p.Ala145Asp)
c.278C>A (p.Ala93Asp)
c.200C>A (p.Ala67Asp)
n.720C>A
dbSNP
5g.56859770C=CA1548129199MAP3K1c.689C= (p.Ala230=)
c.311C= (p.Ala104=)
c.434C= (p.Ala145=)
c.278C= (p.Ala93=)
c.200C= (p.Ala67=)
n.720C=
5g.56859770C>GCA119520075MAP3K1c.689C>G (p.Ala230Gly)
c.311C>G (p.Ala104Gly)
c.434C>G (p.Ala145Gly)
c.278C>G (p.Ala93Gly)
c.200C>G (p.Ala67Gly)
n.720C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859770C>TCA359802432MAP3K1c.689C>T (p.Ala230Val)
c.311C>T (p.Ala104Val)
c.434C>T (p.Ala145Val)
c.278C>T (p.Ala93Val)
c.200C>T (p.Ala67Val)
n.720C>T
gnomAD v4
5g.56859771T>ACA444391649MAP3K1c.690T>A (p.Ala230=)
c.312T>A (p.Ala104=)
c.435T>A (p.Ala145=)
c.279T>A (p.Ala93=)
c.201T>A (p.Ala67=)
n.721T>A
5g.56859771T>CCA444391650MAP3K1c.690T>C (p.Ala230=)
c.312T>C (p.Ala104=)
c.435T>C (p.Ala145=)
c.279T>C (p.Ala93=)
c.201T>C (p.Ala67=)
n.721T>C
dbSNP
5g.56859771T>GCA444391651MAP3K1c.690T>G (p.Ala230=)
c.312T>G (p.Ala104=)
c.435T>G (p.Ala145=)
c.279T>G (p.Ala93=)
c.201T>G (p.Ala67=)
n.721T>G
5g.56859771T=CA1548129200MAP3K1c.690T= (p.Ala230=)
c.312T= (p.Ala104=)
c.435T= (p.Ala145=)
c.279T= (p.Ala93=)
c.201T= (p.Ala67=)
n.721T=
5g.56859772G>ACA359802435MAP3K1c.691G>A (p.Glu231Lys)
c.313G>A (p.Glu105Lys)
c.436G>A (p.Glu146Lys)
c.280G>A (p.Glu94Lys)
c.202G>A (p.Glu68Lys)
n.722G>A
5g.56859772G>CCA359802433MAP3K1c.691G>C (p.Glu231Gln)
c.313G>C (p.Glu105Gln)
c.436G>C (p.Glu146Gln)
c.280G>C (p.Glu94Gln)
c.202G>C (p.Glu68Gln)
n.722G>C
5g.56859772G>TCA359802434MAP3K1c.691G>T (p.Glu231Ter)
c.313G>T (p.Glu105Ter)
c.436G>T (p.Glu146Ter)
c.280G>T (p.Glu94Ter)
c.202G>T (p.Glu68Ter)
n.722G>T
5g.56859773A>CCA359802436MAP3K1c.692A>C (p.Glu231Ala)
c.314A>C (p.Glu105Ala)
c.437A>C (p.Glu146Ala)
c.281A>C (p.Glu94Ala)
c.203A>C (p.Glu68Ala)
n.723A>C
5g.56859773A>GCA359802437MAP3K1c.692A>G (p.Glu231Gly)
c.314A>G (p.Glu105Gly)
c.437A>G (p.Glu146Gly)
c.281A>G (p.Glu94Gly)
c.203A>G (p.Glu68Gly)
n.723A>G
5g.56859773A>TCA359802438MAP3K1c.692A>T (p.Glu231Val)
c.314A>T (p.Glu105Val)
c.437A>T (p.Glu146Val)
c.281A>T (p.Glu94Val)
c.203A>T (p.Glu68Val)
n.723A>T
5g.56859774G>ACA119520078MAP3K1c.693G>A (p.Glu231=)
c.315G>A (p.Glu105=)
c.438G>A (p.Glu146=)
c.282G>A (p.Glu94=)
c.204G>A (p.Glu68=)
n.724G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859774G>CCA3272588MAP3K1c.693G>C (p.Glu231Asp)
c.315G>C (p.Glu105Asp)
c.438G>C (p.Glu146Asp)
c.282G>C (p.Glu94Asp)
c.204G>C (p.Glu68Asp)
n.724G>C
dbSNP ExAC gnomAD v2
5g.56859774G=CA1548129201MAP3K1c.693G= (p.Glu231=)
c.315G= (p.Glu105=)
c.438G= (p.Glu146=)
c.282G= (p.Glu94=)
c.204G= (p.Glu68=)
n.724G=
5g.56859774G>TCA359802439MAP3K1c.693G>T (p.Glu231Asp)
c.315G>T (p.Glu105Asp)
c.438G>T (p.Glu146Asp)
c.282G>T (p.Glu94Asp)
c.204G>T (p.Glu68Asp)
n.724G>T
5g.56859775T>ACA359802440MAP3K1c.694T>A (p.Ser232Thr)
c.316T>A (p.Ser106Thr)
c.439T>A (p.Ser147Thr)
c.283T>A (p.Ser95Thr)
c.205T>A (p.Ser69Thr)
n.725T>A
5g.56859775T>CCA359802441MAP3K1c.694T>C (p.Ser232Pro)
c.316T>C (p.Ser106Pro)
c.439T>C (p.Ser147Pro)
c.283T>C (p.Ser95Pro)
c.205T>C (p.Ser69Pro)
n.725T>C
5g.56859775T>GCA359802442MAP3K1c.694T>G (p.Ser232Ala)
c.316T>G (p.Ser106Ala)
c.439T>G (p.Ser147Ala)
c.283T>G (p.Ser95Ala)
c.205T>G (p.Ser69Ala)
n.725T>G
5g.56859776C>ACA359802443MAP3K1c.695C>A (p.Ser232Tyr)
c.317C>A (p.Ser106Tyr)
c.440C>A (p.Ser147Tyr)
c.284C>A (p.Ser95Tyr)
c.206C>A (p.Ser69Tyr)
n.726C>A
5g.56859776C>GCA359802444MAP3K1c.695C>G (p.Ser232Cys)
c.317C>G (p.Ser106Cys)
c.440C>G (p.Ser147Cys)
c.284C>G (p.Ser95Cys)
c.206C>G (p.Ser69Cys)
n.726C>G
5g.56859776C>TCA359802445MAP3K1c.695C>T (p.Ser232Phe)
c.317C>T (p.Ser106Phe)
c.440C>T (p.Ser147Phe)
c.284C>T (p.Ser95Phe)
c.206C>T (p.Ser69Phe)
n.726C>T
5g.56859777T>ACA444391656MAP3K1c.696T>A (p.Ser232=)
c.318T>A (p.Ser106=)
c.441T>A (p.Ser147=)
c.285T>A (p.Ser95=)
c.207T>A (p.Ser69=)
n.727T>A
5g.56859777T>CCA444391657MAP3K1c.696T>C (p.Ser232=)
c.318T>C (p.Ser106=)
c.441T>C (p.Ser147=)
c.285T>C (p.Ser95=)
c.207T>C (p.Ser69=)
n.727T>C
gnomAD v4
5g.56859777T>GCA444391658MAP3K1c.696T>G (p.Ser232=)
c.318T>G (p.Ser106=)
c.441T>G (p.Ser147=)
c.285T>G (p.Ser95=)
c.207T>G (p.Ser69=)
n.727T>G
5g.56859778C>ACA359802448MAP3K1c.697C>A (p.Pro233Thr)
c.319C>A (p.Pro107Thr)
c.442C>A (p.Pro148Thr)
c.286C>A (p.Pro96Thr)
c.208C>A (p.Pro70Thr)
n.728C>A
5g.56859778C>GCA359802447MAP3K1c.697C>G (p.Pro233Ala)
c.319C>G (p.Pro107Ala)
c.442C>G (p.Pro148Ala)
c.286C>G (p.Pro96Ala)
c.208C>G (p.Pro70Ala)
n.728C>G
5g.56859778C>TCA359802446MAP3K1c.697C>T (p.Pro233Ser)
c.319C>T (p.Pro107Ser)
c.442C>T (p.Pro148Ser)
c.286C>T (p.Pro96Ser)
c.208C>T (p.Pro70Ser)
n.728C>T
gnomAD v4
5g.56859779delCA444391659MAP3K1c.698del (p.Pro233GlnfsTer30)
c.320del (p.Pro107GlnfsTer30)
c.443del (p.Pro148GlnfsTer30)
c.287del (p.Pro96GlnfsTer30)
c.209del (p.Pro70GlnfsTer30)
n.729del
COSMIC
5g.56859779C>ACA359802449MAP3K1c.698C>A (p.Pro233Gln)
c.320C>A (p.Pro107Gln)
c.443C>A (p.Pro148Gln)
c.287C>A (p.Pro96Gln)
c.209C>A (p.Pro70Gln)
n.729C>A
5g.56859779C>GCA359802450MAP3K1c.698C>G (p.Pro233Arg)
c.320C>G (p.Pro107Arg)
c.443C>G (p.Pro148Arg)
c.287C>G (p.Pro96Arg)
c.209C>G (p.Pro70Arg)
n.729C>G
5g.56859779C>TCA359802451MAP3K1c.698C>T (p.Pro233Leu)
c.320C>T (p.Pro107Leu)
c.443C>T (p.Pro148Leu)
c.287C>T (p.Pro96Leu)
c.209C>T (p.Pro70Leu)
n.729C>T
dbSNP COSMIC
5g.56859780A=CA1548129202MAP3K1c.699A= (p.Pro233=)
c.321A= (p.Pro107=)
c.444A= (p.Pro148=)
c.288A= (p.Pro96=)
c.210A= (p.Pro70=)
n.730A=
5g.56859780A>CCA444391661MAP3K1c.699A>C (p.Pro233=)
c.321A>C (p.Pro107=)
c.444A>C (p.Pro148=)
c.288A>C (p.Pro96=)
c.210A>C (p.Pro70=)
n.730A>C
5g.56859780A>GCA3272589MAP3K1c.699A>G (p.Pro233=)
c.321A>G (p.Pro107=)
c.444A>G (p.Pro148=)
c.288A>G (p.Pro96=)
c.210A>G (p.Pro70=)
n.730A>G
dbSNP ExAC gnomAD v2
5g.56859780A>TCA444391662MAP3K1c.699A>T (p.Pro233=)
c.321A>T (p.Pro107=)
c.444A>T (p.Pro148=)
c.288A>T (p.Pro96=)
c.210A>T (p.Pro70=)
n.730A>T
5g.56859781G>ACA359802452MAP3K1c.700G>A (p.Gly234Arg)
c.322G>A (p.Gly108Arg)
c.445G>A (p.Gly149Arg)
c.289G>A (p.Gly97Arg)
c.211G>A (p.Gly71Arg)
n.731G>A
dbSNP gnomAD v3 gnomAD v4
5g.56859781G>CCA359802453MAP3K1c.700G>C (p.Gly234Arg)
c.322G>C (p.Gly108Arg)
c.445G>C (p.Gly149Arg)
c.289G>C (p.Gly97Arg)
c.211G>C (p.Gly71Arg)
n.731G>C
5g.56859781G=CA1548129203MAP3K1c.700G= (p.Gly234=)
c.322G= (p.Gly108=)
c.445G= (p.Gly149=)
c.289G= (p.Gly97=)
c.211G= (p.Gly71=)
n.731G=
5g.56859781G>TCA359802454MAP3K1c.700G>T (p.Gly234Ter)
c.322G>T (p.Gly108Ter)
c.445G>T (p.Gly149Ter)
c.289G>T (p.Gly97Ter)
c.211G>T (p.Gly71Ter)
n.731G>T
5g.56859782G>ACA359802455MAP3K1c.701G>A (p.Gly234Glu)
c.323G>A (p.Gly108Glu)
c.446G>A (p.Gly149Glu)
c.290G>A (p.Gly97Glu)
c.212G>A (p.Gly71Glu)
n.732G>A
5g.56859782G>CCA359802456MAP3K1c.701G>C (p.Gly234Ala)
c.323G>C (p.Gly108Ala)
c.446G>C (p.Gly149Ala)
c.290G>C (p.Gly97Ala)
c.212G>C (p.Gly71Ala)
n.732G>C
5g.56859782G>TCA359802457MAP3K1c.701G>T (p.Gly234Val)
c.323G>T (p.Gly108Val)
c.446G>T (p.Gly149Val)
c.290G>T (p.Gly97Val)
c.212G>T (p.Gly71Val)
n.732G>T
5g.56859783A>CCA444391665MAP3K1c.702A>C (p.Gly234=)
c.324A>C (p.Gly108=)
c.447A>C (p.Gly149=)
c.291A>C (p.Gly97=)
c.213A>C (p.Gly71=)
n.733A>C
5g.56859783A>GCA444391664MAP3K1c.702A>G (p.Gly234=)
c.324A>G (p.Gly108=)
c.447A>G (p.Gly149=)
c.291A>G (p.Gly97=)
c.213A>G (p.Gly71=)
n.733A>G
gnomAD v4
5g.56859783A>TCA444391663MAP3K1c.702A>T (p.Gly234=)
c.324A>T (p.Gly108=)
c.447A>T (p.Gly149=)
c.291A>T (p.Gly97=)
c.213A>T (p.Gly71=)
n.733A>T
5g.56859784G>ACA359802458MAP3K1c.703G>A (p.Glu235Lys)
c.325G>A (p.Glu109Lys)
c.448G>A (p.Glu150Lys)
c.292G>A (p.Glu98Lys)
c.214G>A (p.Glu72Lys)
n.734G>A
5g.56859784G>CCA359802459MAP3K1c.703G>C (p.Glu235Gln)
c.325G>C (p.Glu109Gln)
c.448G>C (p.Glu150Gln)
c.292G>C (p.Glu98Gln)
c.214G>C (p.Glu72Gln)
n.734G>C
5g.56859784G>TCA359802460MAP3K1c.703G>T (p.Glu235Ter)
c.325G>T (p.Glu109Ter)
c.448G>T (p.Glu150Ter)
c.292G>T (p.Glu98Ter)
c.214G>T (p.Glu72Ter)
n.734G>T
5g.56859785A=CA1548129204MAP3K1c.704A= (p.Glu235=)
c.326A= (p.Glu109=)
c.449A= (p.Glu150=)
c.293A= (p.Glu98=)
c.215A= (p.Glu72=)
n.735A=
5g.56859785A>CCA359802461MAP3K1c.704A>C (p.Glu235Ala)
c.326A>C (p.Glu109Ala)
c.449A>C (p.Glu150Ala)
c.293A>C (p.Glu98Ala)
c.215A>C (p.Glu72Ala)
n.735A>C
5g.56859785A>GCA119520081MAP3K1c.704A>G (p.Glu235Gly)
c.326A>G (p.Glu109Gly)
c.449A>G (p.Glu150Gly)
c.293A>G (p.Glu98Gly)
c.215A>G (p.Glu72Gly)
n.735A>G
dbSNP gnomAD v4
5g.56859785A>TCA359802462MAP3K1c.704A>T (p.Glu235Val)
c.326A>T (p.Glu109Val)
c.449A>T (p.Glu150Val)
c.293A>T (p.Glu98Val)
c.215A>T (p.Glu72Val)
n.735A>T
5g.56859786G>ACA444391667MAP3K1c.705G>A (p.Glu235=)
c.327G>A (p.Glu109=)
c.450G>A (p.Glu150=)
c.294G>A (p.Glu98=)
c.216G>A (p.Glu72=)
n.736G>A
5g.56859786G>CCA359802463MAP3K1c.705G>C (p.Glu235Asp)
c.327G>C (p.Glu109Asp)
c.450G>C (p.Glu150Asp)
c.294G>C (p.Glu98Asp)
c.216G>C (p.Glu72Asp)
n.736G>C
dbSNP gnomAD v3 gnomAD v4
5g.56859786G=CA1548129205MAP3K1c.705G= (p.Glu235=)
c.327G= (p.Glu109=)
c.450G= (p.Glu150=)
c.294G= (p.Glu98=)
c.216G= (p.Glu72=)
n.736G=
5g.56859786G>TCA359802464MAP3K1c.705G>T (p.Glu235Asp)
c.327G>T (p.Glu109Asp)
c.450G>T (p.Glu150Asp)
c.294G>T (p.Glu98Asp)
c.216G>T (p.Glu72Asp)
n.736G>T
dbSNP gnomAD v2 gnomAD v4
5g.56859787G>ACA359802465MAP3K1c.706G>A (p.Val236Ile)
c.328G>A (p.Val110Ile)
c.451G>A (p.Val151Ile)
c.295G>A (p.Val99Ile)
c.217G>A (p.Val73Ile)
n.737G>A
5g.56859787G>CCA359802466MAP3K1c.706G>C (p.Val236Leu)
c.328G>C (p.Val110Leu)
c.451G>C (p.Val151Leu)
c.295G>C (p.Val99Leu)
c.217G>C (p.Val73Leu)
n.737G>C
5g.56859787G>TCA359802467MAP3K1c.706G>T (p.Val236Phe)
c.328G>T (p.Val110Phe)
c.451G>T (p.Val151Phe)
c.295G>T (p.Val99Phe)
c.217G>T (p.Val73Phe)
n.737G>T
5g.56859788T>ACA359802468MAP3K1c.707T>A (p.Val236Asp)
c.329T>A (p.Val110Asp)
c.452T>A (p.Val151Asp)
c.296T>A (p.Val99Asp)
c.218T>A (p.Val73Asp)
n.738T>A
5g.56859788T>CCA359802469MAP3K1c.707T>C (p.Val236Ala)
c.329T>C (p.Val110Ala)
c.452T>C (p.Val151Ala)
c.296T>C (p.Val99Ala)
c.218T>C (p.Val73Ala)
n.738T>C
5g.56859788T>GCA3272590MAP3K1c.707T>G (p.Val236Gly)
c.329T>G (p.Val110Gly)
c.452T>G (p.Val151Gly)
c.296T>G (p.Val99Gly)
c.218T>G (p.Val73Gly)
n.738T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859788T=CA1548129206MAP3K1c.707T= (p.Val236=)
c.329T= (p.Val110=)
c.452T= (p.Val151=)
c.296T= (p.Val99=)
c.218T= (p.Val73=)
n.738T=
5g.56859789C>ACA444391669MAP3K1c.708C>A (p.Val236=)
c.330C>A (p.Val110=)
c.453C>A (p.Val151=)
c.297C>A (p.Val99=)
c.219C>A (p.Val73=)
n.739C>A
dbSNP gnomAD v2 gnomAD v4
5g.56859789C=CA1548129207MAP3K1c.708C= (p.Val236=)
c.330C= (p.Val110=)
c.453C= (p.Val151=)
c.297C= (p.Val99=)
c.219C= (p.Val73=)
n.739C=
5g.56859789C>GCA444391670MAP3K1c.708C>G (p.Val236=)
c.330C>G (p.Val110=)
c.453C>G (p.Val151=)
c.297C>G (p.Val99=)
c.219C>G (p.Val73=)
n.739C>G
dbSNP gnomAD v2 gnomAD v4
5g.56859789C>TCA444391671MAP3K1c.708C>T (p.Val236=)
c.330C>T (p.Val110=)
c.453C>T (p.Val151=)
c.297C>T (p.Val99=)
c.219C>T (p.Val73=)
n.739C>T
gnomAD v4
5g.56859790C>ACA359802470MAP3K1c.709C>A (p.Gln237Lys)
c.331C>A (p.Gln111Lys)
c.454C>A (p.Gln152Lys)
c.298C>A (p.Gln100Lys)
c.220C>A (p.Gln74Lys)
n.740C>A
5g.56859790C>GCA359802471MAP3K1c.709C>G (p.Gln237Glu)
c.331C>G (p.Gln111Glu)
c.454C>G (p.Gln152Glu)
c.298C>G (p.Gln100Glu)
c.220C>G (p.Gln74Glu)
n.740C>G
5g.56859790C>TCA359802472MAP3K1c.709C>T (p.Gln237Ter)
c.331C>T (p.Gln111Ter)
c.454C>T (p.Gln152Ter)
c.298C>T (p.Gln100Ter)
c.220C>T (p.Gln74Ter)
n.740C>T
dbSNP gnomAD v4
5g.56859791A=CA1548129208MAP3K1c.710A= (p.Gln237=)
c.332A= (p.Gln111=)
c.455A= (p.Gln152=)
c.299A= (p.Gln100=)
c.221A= (p.Gln74=)
n.741A=
5g.56859791A>CCA359802474MAP3K1c.710A>C (p.Gln237Pro)
c.332A>C (p.Gln111Pro)
c.455A>C (p.Gln152Pro)
c.299A>C (p.Gln100Pro)
c.221A>C (p.Gln74Pro)
n.741A>C
5g.56859791A>GCA3272591MAP3K1c.710A>G (p.Gln237Arg)
c.332A>G (p.Gln111Arg)
c.455A>G (p.Gln152Arg)
c.299A>G (p.Gln100Arg)
c.221A>G (p.Gln74Arg)
n.741A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859791A>TCA359802473MAP3K1c.710A>T (p.Gln237Leu)
c.332A>T (p.Gln111Leu)
c.455A>T (p.Gln152Leu)
c.299A>T (p.Gln100Leu)
c.221A>T (p.Gln74Leu)
n.741A>T
dbSNP
5g.56859792G>ACA119520085MAP3K1c.711G>A (p.Gln237=)
c.333G>A (p.Gln111=)
c.456G>A (p.Gln152=)
c.300G>A (p.Gln100=)
c.222G>A (p.Gln74=)
n.742G>A
dbSNP gnomAD v3 gnomAD v4
5g.56859792G>CCA359802476MAP3K1c.711G>C (p.Gln237His)
c.333G>C (p.Gln111His)
c.456G>C (p.Gln152His)
c.300G>C (p.Gln100His)
c.222G>C (p.Gln74His)
n.742G>C
5g.56859792G=CA1548129209MAP3K1c.711G= (p.Gln237=)
c.333G= (p.Gln111=)
c.456G= (p.Gln152=)
c.300G= (p.Gln100=)
c.222G= (p.Gln74=)
n.742G=
5g.56859792G>TCA359802475MAP3K1c.711G>T (p.Gln237His)
c.333G>T (p.Gln111His)
c.456G>T (p.Gln152His)
c.300G>T (p.Gln100His)
c.222G>T (p.Gln74His)
n.742G>T
5g.56859793G>ACA359802479MAP3K1c.712G>A (p.Ala238Thr)
c.334G>A (p.Ala112Thr)
c.457G>A (p.Ala153Thr)
c.301G>A (p.Ala101Thr)
c.223G>A (p.Ala75Thr)
n.743G>A
dbSNP
5g.56859793G>CCA359802477MAP3K1c.712G>C (p.Ala238Pro)
c.334G>C (p.Ala112Pro)
c.457G>C (p.Ala153Pro)
c.301G>C (p.Ala101Pro)
c.223G>C (p.Ala75Pro)
n.743G>C
5g.56859793G>TCA359802478MAP3K1c.712G>T (p.Ala238Ser)
c.334G>T (p.Ala112Ser)
c.457G>T (p.Ala153Ser)
c.301G>T (p.Ala101Ser)
c.223G>T (p.Ala75Ser)
n.743G>T
5g.56859794C>ACA359802480MAP3K1c.713C>A (p.Ala238Glu)
c.335C>A (p.Ala112Glu)
c.458C>A (p.Ala153Glu)
c.302C>A (p.Ala101Glu)
c.224C>A (p.Ala75Glu)
n.744C>A
dbSNP gnomAD v3 gnomAD v4
5g.56859794C=CA1548129210MAP3K1c.713C= (p.Ala238=)
c.335C= (p.Ala112=)
c.458C= (p.Ala153=)
c.302C= (p.Ala101=)
c.224C= (p.Ala75=)
n.744C=
5g.56859794C>GCA359802481MAP3K1c.713C>G (p.Ala238Gly)
c.335C>G (p.Ala112Gly)
c.458C>G (p.Ala153Gly)
c.302C>G (p.Ala101Gly)
c.224C>G (p.Ala75Gly)
n.744C>G
5g.56859794C>TCA359802482MAP3K1c.713C>T (p.Ala238Val)
c.335C>T (p.Ala112Val)
c.458C>T (p.Ala153Val)
c.302C>T (p.Ala101Val)
c.224C>T (p.Ala75Val)
n.744C>T
dbSNP
5g.56859795A>CCA444391674MAP3K1c.714A>C (p.Ala238=)
c.336A>C (p.Ala112=)
c.459A>C (p.Ala153=)
c.303A>C (p.Ala101=)
c.225A>C (p.Ala75=)
n.745A>C
5g.56859795A>GCA444391675MAP3K1c.714A>G (p.Ala238=)
c.336A>G (p.Ala112=)
c.459A>G (p.Ala153=)
c.303A>G (p.Ala101=)
c.225A>G (p.Ala75=)
n.745A>G
5g.56859795A>TCA444391676MAP3K1c.714A>T (p.Ala238=)
c.336A>T (p.Ala112=)
c.459A>T (p.Ala153=)
c.303A>T (p.Ala101=)
c.225A>T (p.Ala75=)
n.745A>T
5g.56859796A>CCA359802485MAP3K1c.715A>C (p.Ser239Arg)
c.337A>C (p.Ser113Arg)
c.460A>C (p.Ser154Arg)
c.304A>C (p.Ser102Arg)
c.226A>C (p.Ser76Arg)
n.746A>C
5g.56859796A>GCA359802484MAP3K1c.715A>G (p.Ser239Gly)
c.337A>G (p.Ser113Gly)
c.460A>G (p.Ser154Gly)
c.304A>G (p.Ser102Gly)
c.226A>G (p.Ser76Gly)
n.746A>G
5g.56859796A>TCA359802483MAP3K1c.715A>T (p.Ser239Cys)
c.337A>T (p.Ser113Cys)
c.460A>T (p.Ser154Cys)
c.304A>T (p.Ser102Cys)
c.226A>T (p.Ser76Cys)
n.746A>T
5g.56859797G>ACA3272592MAP3K1c.716G>A (p.Ser239Asn)
c.338G>A (p.Ser113Asn)
c.461G>A (p.Ser154Asn)
c.305G>A (p.Ser102Asn)
c.227G>A (p.Ser76Asn)
n.747G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859797G>CCA359802486MAP3K1c.716G>C (p.Ser239Thr)
c.338G>C (p.Ser113Thr)
c.461G>C (p.Ser154Thr)
c.305G>C (p.Ser102Thr)
c.227G>C (p.Ser76Thr)
n.747G>C
5g.56859797G=CA1548129211MAP3K1c.716G= (p.Ser239=)
c.338G= (p.Ser113=)
c.461G= (p.Ser154=)
c.305G= (p.Ser102=)
c.227G= (p.Ser76=)
n.747G=
5g.56859797G>TCA119520088MAP3K1c.716G>T (p.Ser239Ile)
c.338G>T (p.Ser113Ile)
c.461G>T (p.Ser154Ile)
c.305G>T (p.Ser102Ile)
c.227G>T (p.Ser76Ile)
n.747G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.56859798T>ACA359802487MAP3K1c.717T>A (p.Ser239Arg)
c.339T>A (p.Ser113Arg)
c.462T>A (p.Ser154Arg)
c.306T>A (p.Ser102Arg)
c.228T>A (p.Ser76Arg)
n.748T>A
5g.56859798T>CCA3272593MAP3K1c.717T>C (p.Ser239=)
c.339T>C (p.Ser113=)
c.462T>C (p.Ser154=)
c.306T>C (p.Ser102=)
c.228T>C (p.Ser76=)
n.748T>C
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859798T>GCA3272594MAP3K1c.717T>G (p.Ser239Arg)
c.339T>G (p.Ser113Arg)
c.462T>G (p.Ser154Arg)
c.306T>G (p.Ser102Arg)
c.228T>G (p.Ser76Arg)
n.748T>G
dbSNP ExAC gnomAD v2 gnomAD v4
5g.56859798T=CA1548129212MAP3K1c.717T= (p.Ser239=)
c.339T= (p.Ser113=)
c.462T= (p.Ser154=)
c.306T= (p.Ser102=)
c.228T= (p.Ser76=)
n.748T=
5g.56859799G>ACA359802488MAP3K1c.718G>A (p.Ala240Thr)
c.340G>A (p.Ala114Thr)
c.463G>A (p.Ala155Thr)
c.307G>A (p.Ala103Thr)
c.229G>A (p.Ala77Thr)
n.749G>A
gnomAD v4
5g.56859799G>CCA359802490MAP3K1c.718G>C (p.Ala240Pro)
c.340G>C (p.Ala114Pro)
c.463G>C (p.Ala155Pro)
c.307G>C (p.Ala103Pro)
c.229G>C (p.Ala77Pro)
n.749G>C
5g.56859799G>TCA359802489MAP3K1c.718G>T (p.Ala240Ser)
c.340G>T (p.Ala114Ser)
c.463G>T (p.Ala155Ser)
c.307G>T (p.Ala103Ser)
c.229G>T (p.Ala77Ser)
n.749G>T
5g.56859800C>ACA359802491MAP3K1c.719C>A (p.Ala240Glu)
c.341C>A (p.Ala114Glu)
c.464C>A (p.Ala155Glu)
c.308C>A (p.Ala103Glu)
c.230C>A (p.Ala77Glu)
n.750C>A
dbSNP gnomAD v2 gnomAD v4
5g.56859800C=CA1548129213MAP3K1c.719C= (p.Ala240=)
c.341C= (p.Ala114=)
c.464C= (p.Ala155=)
c.308C= (p.Ala103=)
c.230C= (p.Ala77=)
n.750C=
5g.56859800C>GCA359802492MAP3K1c.719C>G (p.Ala240Gly)
c.341C>G (p.Ala114Gly)
c.464C>G (p.Ala155Gly)
c.308C>G (p.Ala103Gly)
c.230C>G (p.Ala77Gly)
n.750C>G
dbSNP gnomAD v3 gnomAD v4
5g.56859800C>TCA3272595MAP3K1c.719C>T (p.Ala240Val)
c.341C>T (p.Ala114Val)
c.464C>T (p.Ala155Val)
c.308C>T (p.Ala103Val)
c.230C>T (p.Ala77Val)
n.750C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859801G>ACA3272596MAP3K1c.720G>A (p.Ala240=)
c.342G>A (p.Ala114=)
c.465G>A (p.Ala155=)
c.309G>A (p.Ala103=)
c.231G>A (p.Ala77=)
n.751G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.56859801G>CCA444391680MAP3K1c.720G>C (p.Ala240=)
c.342G>C (p.Ala114=)
c.465G>C (p.Ala155=)
c.309G>C (p.Ala103=)
c.231G>C (p.Ala77=)
n.751G>C
5g.56859801G=CA1548129214MAP3K1c.720G= (p.Ala240=)
c.342G= (p.Ala114=)
c.465G= (p.Ala155=)
c.309G= (p.Ala103=)
c.231G= (p.Ala77=)
n.751G=
5g.56859801G>TCA444391681MAP3K1c.720G>T (p.Ala240=)
c.342G>T (p.Ala114=)
c.465G>T (p.Ala155=)
c.309G>T (p.Ala103=)
c.231G>T (p.Ala77=)
n.751G>T
5g.56859801delinsTTCA645563846MAP3K1c.720delinsTT (p.Ala241CysfsTer?)
c.342delinsTT (p.Ala115CysfsTer?)
c.465delinsTT (p.Ala156CysfsTer?)
c.309delinsTT (p.Ala104CysfsTer?)
c.231delinsTT (p.Ala78CysfsTer?)
n.751delinsTT
COSMIC
5g.56859802G>ACA119520093MAP3K1c.721G>A (p.Ala241Thr)
c.343G>A (p.Ala115Thr)
c.466G>A (p.Ala156Thr)
c.310G>A (p.Ala104Thr)
c.232G>A (p.Ala78Thr)
n.752G>A
dbSNP gnomAD v3 gnomAD v4
5g.56859802G>CCA359802493MAP3K1c.721G>C (p.Ala241Pro)
c.343G>C (p.Ala115Pro)
c.466G>C (p.Ala156Pro)
c.310G>C (p.Ala104Pro)
c.232G>C (p.Ala78Pro)
n.752G>C
5g.56859802G=CA1548129215MAP3K1c.721G= (p.Ala241=)
c.343G= (p.Ala115=)
c.466G= (p.Ala156=)
c.310G= (p.Ala104=)
c.232G= (p.Ala78=)
n.752G=
5g.56859802G>TCA359802494MAP3K1c.721G>T (p.Ala241Ser)
c.343G>T (p.Ala115Ser)
c.466G>T (p.Ala156Ser)
c.310G>T (p.Ala104Ser)
c.232G>T (p.Ala78Ser)
n.752G>T
5g.56859803C>ACA359802495MAP3K1c.722C>A (p.Ala241Asp)
c.344C>A (p.Ala115Asp)
c.467C>A (p.Ala156Asp)
c.311C>A (p.Ala104Asp)
c.233C>A (p.Ala78Asp)
n.753C>A
5g.56859803C>GCA359802496MAP3K1c.722C>G (p.Ala241Gly)
c.344C>G (p.Ala115Gly)
c.467C>G (p.Ala156Gly)
c.311C>G (p.Ala104Gly)
c.233C>G (p.Ala78Gly)
n.753C>G
gnomAD v4
5g.56859803C>TCA359802497MAP3K1c.722C>T (p.Ala241Val)
c.344C>T (p.Ala115Val)
c.467C>T (p.Ala156Val)
c.311C>T (p.Ala104Val)
c.233C>T (p.Ala78Val)
n.753C>T
5g.56859804T>ACA444391682MAP3K1c.723T>A (p.Ala241=)
c.345T>A (p.Ala115=)
c.468T>A (p.Ala156=)
c.312T>A (p.Ala104=)
c.234T>A (p.Ala78=)
n.754T>A
5g.56859804T>CCA444391684MAP3K1c.723T>C (p.Ala241=)
c.345T>C (p.Ala115=)
c.468T>C (p.Ala156=)
c.312T>C (p.Ala104=)
c.234T>C (p.Ala78=)
n.754T>C
dbSNP
5g.56859804T>GCA444391685MAP3K1c.723T>G (p.Ala241=)
c.345T>G (p.Ala115=)
c.468T>G (p.Ala156=)
c.312T>G (p.Ala104=)
c.234T>G (p.Ala78=)
n.754T>G
5g.56859804T=CA1548129216MAP3K1c.723T= (p.Ala241=)
c.345T= (p.Ala115=)
c.468T= (p.Ala156=)
c.312T= (p.Ala104=)
c.234T= (p.Ala78=)
n.754T=
5g.56859805T>ACA359802500MAP3K1c.724T>A (p.Ser242Thr)
c.346T>A (p.Ser116Thr)
c.469T>A (p.Ser157Thr)
c.313T>A (p.Ser105Thr)
c.235T>A (p.Ser79Thr)
n.755T>A
5g.56859805T>CCA359802499MAP3K1c.724T>C (p.Ser242Pro)
c.346T>C (p.Ser116Pro)
c.469T>C (p.Ser157Pro)
c.313T>C (p.Ser105Pro)
c.235T>C (p.Ser79Pro)
n.755T>C
5g.56859805T>GCA359802498MAP3K1c.724T>G (p.Ser242Ala)
c.346T>G (p.Ser116Ala)
c.469T>G (p.Ser157Ala)
c.313T>G (p.Ser105Ala)
c.235T>G (p.Ser79Ala)
n.755T>G
5g.56859806C>ACA359802501MAP3K1c.725C>A (p.Ser242Ter)
c.347C>A (p.Ser116Ter)
c.470C>A (p.Ser157Ter)
c.314C>A (p.Ser105Ter)
c.236C>A (p.Ser79Ter)
n.756C>A
5g.56859806C>GCA359802502MAP3K1c.725C>G (p.Ser242Ter)
c.347C>G (p.Ser116Ter)
c.470C>G (p.Ser157Ter)
c.314C>G (p.Ser105Ter)
c.236C>G (p.Ser79Ter)
n.756C>G
dbSNP
5g.56859806C>TCA359802503MAP3K1c.725C>T (p.Ser242Leu)
c.347C>T (p.Ser116Leu)
c.470C>T (p.Ser157Leu)
c.314C>T (p.Ser105Leu)
c.236C>T (p.Ser79Leu)
n.756C>T
dbSNP
5g.56859807A>CCA444391686MAP3K1c.726A>C (p.Ser242=)
c.348A>C (p.Ser116=)
c.471A>C (p.Ser157=)
c.315A>C (p.Ser105=)
c.237A>C (p.Ser79=)
n.757A>C
5g.56859807A>GCA444391687MAP3K1c.726A>G (p.Ser242=)
c.348A>G (p.Ser116=)
c.471A>G (p.Ser157=)
c.315A>G (p.Ser105=)
c.237A>G (p.Ser79=)
n.757A>G
5g.56859807A>TCA444391688MAP3K1c.726A>T (p.Ser242=)
c.348A>T (p.Ser116=)
c.471A>T (p.Ser157=)
c.315A>T (p.Ser105=)
c.237A>T (p.Ser79=)
n.757A>T
5g.56859808C>ACA359802504MAP3K1c.727C>A (p.Pro243Thr)
c.349C>A (p.Pro117Thr)
c.472C>A (p.Pro158Thr)
c.316C>A (p.Pro106Thr)
c.238C>A (p.Pro80Thr)
n.758C>A
5g.56859808C>GCA359802505MAP3K1c.727C>G (p.Pro243Ala)
c.349C>G (p.Pro117Ala)
c.472C>G (p.Pro158Ala)
c.316C>G (p.Pro106Ala)
c.238C>G (p.Pro80Ala)
n.758C>G
gnomAD v4
5g.56859808C>TCA359802506MAP3K1c.727C>T (p.Pro243Ser)
c.349C>T (p.Pro117Ser)
c.472C>T (p.Pro158Ser)
c.316C>T (p.Pro106Ser)
c.238C>T (p.Pro80Ser)
n.758C>T
5g.56859809C>ACA359802507MAP3K1c.728C>A (p.Pro243Gln)
c.350C>A (p.Pro117Gln)
c.473C>A (p.Pro158Gln)
c.317C>A (p.Pro106Gln)
c.239C>A (p.Pro80Gln)
n.759C>A
5g.56859809C=CA1548129217MAP3K1c.728C= (p.Pro243=)
c.350C= (p.Pro117=)
c.473C= (p.Pro158=)
c.317C= (p.Pro106=)
c.239C= (p.Pro80=)
n.759C=
5g.56859809C>GCA359802508MAP3K1c.728C>G (p.Pro243Arg)
c.350C>G (p.Pro117Arg)
c.473C>G (p.Pro158Arg)
c.317C>G (p.Pro106Arg)
c.239C>G (p.Pro80Arg)
n.759C>G
dbSNP gnomAD v3 gnomAD v4
5g.56859809C>TCA359802509MAP3K1c.728C>T (p.Pro243Leu)
c.350C>T (p.Pro117Leu)
c.473C>T (p.Pro158Leu)
c.317C>T (p.Pro106Leu)
c.239C>T (p.Pro80Leu)
n.759C>T

Number of alleles fetched