Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.56859709A= | CA1548129176 | MAP3K1 | c.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= | |
5 | g.56859709A>C | CA444391591 | MAP3K1 | c.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 | |
5 | g.56859709A>G | CA3272581 | MAP3K1 | c.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 |
5 | g.56859709A>T | CA444391592 | MAP3K1 | c.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 |
5 | g.56859710T>A | CA444391593 | MAP3K1 | c.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 | |
5 | g.56859710T>C | CA444391594 | MAP3K1 | c.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 |
5 | g.56859710T>G | CA444391595 | MAP3K1 | c.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 | |
5 | g.56859710T= | CA1548129177 | MAP3K1 | c.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= | |
5 | g.56859711T>A | CA444391596 | MAP3K1 | c.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 | |
5 | g.56859711T>C | CA444391597 | MAP3K1 | c.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 | |
5 | g.56859711T>G | CA444391598 | MAP3K1 | c.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 | |
5 | g.56859712C>A | CA444391599 | MAP3K1 | c.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 |
5 | g.56859712C= | CA1548129178 | MAP3K1 | c.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= | |
5 | g.56859712C>G | CA444391600 | MAP3K1 | c.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 | |
5 | g.56859712C>T | CA444391601 | MAP3K1 | c.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 | |
5 | g.56859713A>C | CA359802304 | MAP3K1 | c.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 | |
5 | g.56859713A>G | CA359802305 | MAP3K1 | c.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 |
5 | g.56859713A>T | CA359802306 | MAP3K1 | c.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 | |
5 | g.56859714G>A | CA359802307 | MAP3K1 | c.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 | |
5 | g.56859714G>C | CA359802308 | MAP3K1 | c.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 | |
5 | g.56859714G= | CA1548129179 | MAP3K1 | c.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= | |
5 | g.56859714G>T | CA359802309 | MAP3K1 | c.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 |
5 | g.56859715G>A | CA119520065 | MAP3K1 | c.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 |
5 | g.56859715G>C | CA359802311 | MAP3K1 | c.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 | |
5 | g.56859715G= | CA1548129180 | MAP3K1 | c.634G= (p.Val212=) c.256G= (p.Val86=) c.379G= (p.Val127=) c.223G= (p.Val75=) c.145G= (p.Val49=) n.665G= | |
5 | g.56859715G>T | CA359802310 | MAP3K1 | c.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 | |
5 | g.56859716T>A | CA359802312 | MAP3K1 | c.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 | |
5 | g.56859716T>C | CA359802313 | MAP3K1 | c.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 | |
5 | g.56859716T>G | CA359802314 | MAP3K1 | c.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 | |
5 | g.56859717G>A | CA444391602 | MAP3K1 | c.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 | |
5 | g.56859717G>C | CA444391604 | MAP3K1 | c.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 | |
5 | g.56859717G>T | CA444391603 | MAP3K1 | c.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 | |
5 | g.56859718G>A | CA359802315 | MAP3K1 | c.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 | |
5 | g.56859718G>C | CA359802316 | MAP3K1 | c.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 | |
5 | g.56859718G>T | CA359802317 | MAP3K1 | c.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 | |
5 | g.56859719T>A | CA359802318 | MAP3K1 | c.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 | |
5 | g.56859719T>C | CA359802319 | MAP3K1 | c.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 | |
5 | g.56859719T>G | CA359802320 | MAP3K1 | c.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 | |
5 | g.56859719T= | CA1548129181 | MAP3K1 | c.638T= (p.Val213=) c.260T= (p.Val87=) c.383T= (p.Val128=) c.227T= (p.Val76=) c.149T= (p.Val50=) n.669T= | |
5 | g.56859720A>C | CA444391606 | MAP3K1 | c.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 | |
5 | g.56859720A>G | CA444391607 | MAP3K1 | c.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 | |
5 | g.56859720A>T | CA444391605 | MAP3K1 | c.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 | |
5 | g.56859723dup | CA119520067 | MAP3K1 | c.642dup (p.Pro215ThrfsTer5) c.264dup (p.Pro89ThrfsTer5) c.387dup (p.Pro130ThrfsTer5) c.231dup (p.Pro78ThrfsTer5) c.153dup (p.Pro52ThrfsTer5) n.673dup | dbSNP |
5 | g.56859723del | CA2708577969 | MAP3K1 | c.642del (p.Lys214AsnfsTer12) c.264del (p.Lys88AsnfsTer12) c.387del (p.Lys129AsnfsTer12) c.231del (p.Lys77AsnfsTer12) c.153del (p.Lys51AsnfsTer12) n.673del | dbSNP |
5 | g.56859721A>C | CA359802322 | MAP3K1 | c.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 | |
5 | g.56859721A>G | CA359802323 | MAP3K1 | c.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 | |
5 | g.56859721A>T | CA359802321 | MAP3K1 | c.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 | |
5 | g.56859722A>C | CA359802324 | MAP3K1 | c.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 | |
5 | g.56859722A>G | CA359802325 | MAP3K1 | c.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 | |
5 | g.56859722A>T | CA359802326 | MAP3K1 | c.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 | |
5 | g.56859723A>C | CA359802327 | MAP3K1 | c.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 |
5 | g.56859723A>G | CA444391608 | MAP3K1 | c.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 | |
5 | g.56859723A>T | CA359802328 | MAP3K1 | c.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 | |
5 | g.56859724C>A | CA359802331 | MAP3K1 | c.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 | |
5 | g.56859724C= | CA1548129182 | MAP3K1 | c.643C= (p.Pro215=) c.265C= (p.Pro89=) c.388C= (p.Pro130=) c.232C= (p.Pro78=) c.154C= (p.Pro52=) n.674C= | |
5 | g.56859724C>G | CA359802330 | MAP3K1 | c.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 |
5 | g.56859724C>T | CA359802329 | MAP3K1 | c.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 | |
5 | g.56859725C>A | CA359802332 | MAP3K1 | c.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 |
5 | g.56859725C>G | CA359802333 | MAP3K1 | c.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 | |
5 | g.56859725C>T | CA359802334 | MAP3K1 | c.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 | |
5 | g.56859726A>C | CA444391609 | MAP3K1 | c.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 | |
5 | g.56859726A>G | CA444391610 | MAP3K1 | c.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 | |
5 | g.56859726A>T | CA444391611 | MAP3K1 | c.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 | |
5 | g.56859727A>C | CA359802335 | MAP3K1 | c.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 | |
5 | g.56859727A>G | CA359802336 | MAP3K1 | c.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 |
5 | g.56859727A>T | CA359802337 | MAP3K1 | c.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 | |
5 | g.56859728T>A | CA359802338 | MAP3K1 | c.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 |
5 | g.56859728T>C | CA359802340 | MAP3K1 | c.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 | |
5 | g.56859728T>G | CA359802339 | MAP3K1 | c.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 | |
5 | g.56859728T= | CA1548129183 | MAP3K1 | c.647T= (p.Ile216=) c.269T= (p.Ile90=) c.392T= (p.Ile131=) c.236T= (p.Ile79=) c.158T= (p.Ile53=) n.678T= | |
5 | g.56859729C>A | CA444391612 | MAP3K1 | c.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 | |
5 | g.56859729C>G | CA359802341 | MAP3K1 | c.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 | |
5 | g.56859729C>T | CA444391613 | MAP3K1 | c.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 |
5 | g.56859731dup | CA645563845 | MAP3K1 | c.650dup (p.Val218SerfsTer2) c.272dup (p.Val92SerfsTer2) c.395dup (p.Val133SerfsTer2) c.239dup (p.Val81SerfsTer2) c.161dup (p.Val55SerfsTer2) n.681dup | COSMIC |
5 | g.56859730C>A | CA359802342 | MAP3K1 | c.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 | |
5 | g.56859730C>G | CA359802343 | MAP3K1 | c.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 | |
5 | g.56859730C>T | CA359802344 | MAP3K1 | c.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 | |
5 | g.56859731C>A | CA359802345 | MAP3K1 | c.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 | |
5 | g.56859731C>G | CA359802346 | MAP3K1 | c.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 | |
5 | g.56859731C>T | CA359802347 | MAP3K1 | c.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 |
5 | g.56859732A>C | CA444391614 | MAP3K1 | c.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 | |
5 | g.56859732A>G | CA444391615 | MAP3K1 | c.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 |
5 | g.56859732A>T | CA444391616 | MAP3K1 | c.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 | |
5 | g.56859733G>A | CA359802348 | MAP3K1 | c.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 |
5 | g.56859733G>C | CA359802349 | MAP3K1 | c.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 | |
5 | g.56859733G= | CA1548129184 | MAP3K1 | c.652G= (p.Val218=) c.274G= (p.Val92=) c.397G= (p.Val133=) c.241G= (p.Val81=) c.163G= (p.Val55=) n.683G= | |
5 | g.56859733G>T | CA359802350 | MAP3K1 | c.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 | |
5 | g.56859734T>A | CA359802351 | MAP3K1 | c.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 | |
5 | g.56859734T>C | CA359802352 | MAP3K1 | c.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 | |
5 | g.56859734T>G | CA359802353 | MAP3K1 | c.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 | |
5 | g.56859735T>A | CA444391617 | MAP3K1 | c.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 | |
5 | g.56859735T>C | CA444391618 | MAP3K1 | c.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 |
5 | g.56859735T>G | CA444391619 | MAP3K1 | c.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 | |
5 | g.56859735T= | CA1548129185 | MAP3K1 | c.654T= (p.Val218=) c.276T= (p.Val92=) c.399T= (p.Val133=) c.243T= (p.Val81=) c.165T= (p.Val55=) n.685T= | |
5 | g.56859736A= | CA1548129186 | MAP3K1 | c.655A= (p.Lys219=) c.277A= (p.Lys93=) c.400A= (p.Lys134=) c.244A= (p.Lys82=) c.166A= (p.Lys56=) n.686A= | |
5 | g.56859736A>C | CA359802355 | MAP3K1 | c.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 | |
5 | g.56859736A>G | CA359802356 | MAP3K1 | c.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 |
5 | g.56859736A>T | CA359802354 | MAP3K1 | c.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 | |
5 | g.56859737A>C | CA359802358 | MAP3K1 | c.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 | |
5 | g.56859737A>G | CA359802357 | MAP3K1 | c.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 | |
5 | g.56859737A>T | CA359802359 | MAP3K1 | c.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 | |
5 | g.56859738A>C | CA359802360 | MAP3K1 | c.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 | |
5 | g.56859738A>G | CA444391620 | MAP3K1 | c.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 | |
5 | g.56859738A>T | CA359802361 | MAP3K1 | c.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 | |
5 | g.56859739G>A | CA3272582 | MAP3K1 | c.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 |
5 | g.56859739G>C | CA359802363 | MAP3K1 | c.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 | |
5 | g.56859739G= | CA1548129187 | MAP3K1 | c.658G= (p.Gly220=) c.280G= (p.Gly94=) c.403G= (p.Gly135=) c.247G= (p.Gly83=) c.169G= (p.Gly57=) n.689G= | |
5 | g.56859739G>T | CA359802362 | MAP3K1 | c.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 | |
5 | g.56859740del | CA2673908357 | MAP3K1 | c.659del (p.Gly220GlufsTer6) c.281del (p.Gly94GlufsTer6) c.404del (p.Gly135GlufsTer6) c.248del (p.Gly83GlufsTer6) c.170del (p.Gly57GlufsTer6) n.690del | gnomAD v4 |
5 | g.56859740G>A | CA359802364 | MAP3K1 | c.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 | |
5 | g.56859740G>C | CA359802366 | MAP3K1 | c.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 | |
5 | g.56859740G= | CA1548129188 | MAP3K1 | c.659G= (p.Gly220=) c.281G= (p.Gly94=) c.404G= (p.Gly135=) c.248G= (p.Gly83=) c.170G= (p.Gly57=) n.690G= | |
5 | g.56859740G>T | CA359802365 | MAP3K1 | c.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 |
5 | g.56859741A>C | CA444391623 | MAP3K1 | c.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 | |
5 | g.56859741A>G | CA444391622 | MAP3K1 | c.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 | |
5 | g.56859741A>T | CA444391621 | MAP3K1 | c.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 | |
5 | g.56859742G>A | CA359802367 | MAP3K1 | c.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 | |
5 | g.56859742G>C | CA359802368 | MAP3K1 | c.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 | |
5 | g.56859742G>T | CA359802369 | MAP3K1 | c.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 | |
5 | g.56859743A= | CA1548129189 | MAP3K1 | c.662A= (p.Asp221=) c.284A= (p.Asp95=) c.407A= (p.Asp136=) c.251A= (p.Asp84=) c.173A= (p.Asp58=) n.693A= | |
5 | g.56859743A>C | CA359802370 | MAP3K1 | c.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 | |
5 | g.56859743A>G | CA359802371 | MAP3K1 | c.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 |
5 | g.56859743A>T | CA3272583 | MAP3K1 | c.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 |
5 | g.56859744T>A | CA359802373 | MAP3K1 | c.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 | |
5 | g.56859744T>C | CA444391624 | MAP3K1 | c.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 | |
5 | g.56859744T>G | CA359802372 | MAP3K1 | c.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 | |
5 | g.56859745G>A | CA359802374 | MAP3K1 | c.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 | |
5 | g.56859745G>C | CA359802375 | MAP3K1 | c.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 | |
5 | g.56859745G>T | CA359802376 | MAP3K1 | c.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 |
5 | g.56859746del | CA444391625 | MAP3K1 | c.665del (p.Gly222AspfsTer4) c.287del (p.Gly96AspfsTer4) c.410del (p.Gly137AspfsTer4) c.254del (p.Gly85AspfsTer4) c.176del (p.Gly59AspfsTer4) n.696del | COSMIC |
5 | g.56859746G>A | CA359802377 | MAP3K1 | c.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 |
5 | g.56859746G>C | CA359802378 | MAP3K1 | c.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 |
5 | g.56859746G= | CA1548129190 | MAP3K1 | c.665G= (p.Gly222=) c.287G= (p.Gly96=) c.410G= (p.Gly137=) c.254G= (p.Gly85=) c.176G= (p.Gly59=) n.696G= | |
5 | g.56859746G>T | CA359802379 | MAP3K1 | c.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 |
5 | g.56859747A>C | CA444391626 | MAP3K1 | c.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 | |
5 | g.56859747A>G | CA444391627 | MAP3K1 | c.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 | |
5 | g.56859747A>T | CA444391628 | MAP3K1 | c.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 |
5 | g.56859748T>A | CA359802380 | MAP3K1 | c.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 | |
5 | g.56859748T>C | CA359802382 | MAP3K1 | c.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 | |
5 | g.56859748T>G | CA359802381 | MAP3K1 | c.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 | |
5 | g.56859749C>A | CA359802383 | MAP3K1 | c.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 |
5 | g.56859749C= | CA1548129191 | MAP3K1 | c.668C= (p.Ser223=) c.290C= (p.Ser97=) c.413C= (p.Ser138=) c.257C= (p.Ser86=) c.179C= (p.Ser60=) n.699C= | |
5 | g.56859749C>G | CA359802384 | MAP3K1 | c.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 |
5 | g.56859749C>T | CA359802385 | MAP3K1 | c.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 |
5 | g.56859750T>A | CA444391630 | MAP3K1 | c.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 | |
5 | g.56859750T>C | CA444391631 | MAP3K1 | c.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 | |
5 | g.56859750T>G | CA444391632 | MAP3K1 | c.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 |
5 | g.56859751G>A | CA359802386 | MAP3K1 | c.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 | |
5 | g.56859751G>C | CA3272584 | MAP3K1 | c.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 |
5 | g.56859751G= | CA1548129192 | MAP3K1 | c.670G= (p.Glu224=) c.292G= (p.Glu98=) c.415G= (p.Glu139=) c.259G= (p.Glu87=) c.181G= (p.Glu61=) n.701G= | |
5 | g.56859751G>T | CA359802387 | MAP3K1 | c.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 | |
5 | g.56859752A= | CA1548129193 | MAP3K1 | c.671A= (p.Glu224=) c.293A= (p.Glu98=) c.416A= (p.Glu139=) c.260A= (p.Glu87=) c.182A= (p.Glu61=) n.702A= | |
5 | g.56859752A>C | CA359802388 | MAP3K1 | c.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 | |
5 | g.56859752A>G | CA3272585 | MAP3K1 | c.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 |
5 | g.56859752A>T | CA359802389 | MAP3K1 | c.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 | |
5 | g.56859753A>C | CA359802390 | MAP3K1 | c.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 | |
5 | g.56859753A>G | CA444391634 | MAP3K1 | c.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 | |
5 | g.56859753A>T | CA359802391 | MAP3K1 | c.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 | |
5 | g.56859754A= | CA1548129194 | MAP3K1 | c.673A= (p.Met225=) c.295A= (p.Met99=) c.418A= (p.Met140=) c.262A= (p.Met88=) c.184A= (p.Met62=) n.704A= | |
5 | g.56859754A>C | CA359802392 | MAP3K1 | c.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 | |
5 | g.56859754A>G | CA359802394 | MAP3K1 | c.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 |
5 | g.56859754A>T | CA359802393 | MAP3K1 | c.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 |
5 | g.56859755T>A | CA359802395 | MAP3K1 | c.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 | |
5 | g.56859755T>C | CA3272586 | MAP3K1 | c.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 |
5 | g.56859755T>G | CA359802396 | MAP3K1 | c.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 | |
5 | g.56859755T= | CA1548129195 | MAP3K1 | c.674T= (p.Met225=) c.296T= (p.Met99=) c.419T= (p.Met140=) c.263T= (p.Met88=) c.185T= (p.Met62=) n.705T= | |
5 | g.56859756G>A | CA359802397 | MAP3K1 | c.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 |
5 | g.56859756G>C | CA359802398 | MAP3K1 | c.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 | |
5 | g.56859756G= | CA1548129196 | MAP3K1 | c.675G= (p.Met225=) c.297G= (p.Met99=) c.420G= (p.Met140=) c.264G= (p.Met88=) c.186G= (p.Met62=) n.706G= | |
5 | g.56859756G>T | CA119520073 | MAP3K1 | c.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 |
5 | g.56859757A>C | CA359802399 | MAP3K1 | c.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 | |
5 | g.56859757A>G | CA359802400 | MAP3K1 | c.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 |
5 | g.56859757A>T | CA359802401 | MAP3K1 | c.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 | |
5 | g.56859758A>C | CA359802402 | MAP3K1 | c.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 | |
5 | g.56859758A>G | CA359802403 | MAP3K1 | c.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 | |
5 | g.56859758A>T | CA359802404 | MAP3K1 | c.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 | |
5 | g.56859759T>A | CA359802406 | MAP3K1 | c.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 | |
5 | g.56859759T>C | CA444391636 | MAP3K1 | c.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 | |
5 | g.56859759T>G | CA359802405 | MAP3K1 | c.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 | |
5 | g.56859760C>A | CA359802407 | MAP3K1 | c.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 | |
5 | g.56859760C>G | CA359802408 | MAP3K1 | c.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 | |
5 | g.56859760C>T | CA359802409 | MAP3K1 | c.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 | |
5 | g.56859761A>C | CA359802410 | MAP3K1 | c.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 | |
5 | g.56859761A>G | CA359802411 | MAP3K1 | c.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 | |
5 | g.56859761A>T | CA359802412 | MAP3K1 | c.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 | |
5 | g.56859762C>A | CA359802413 | MAP3K1 | c.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 | |
5 | g.56859762C= | CA1548129197 | MAP3K1 | c.681C= (p.His227=) c.303C= (p.His101=) c.426C= (p.His142=) c.270C= (p.His90=) c.192C= (p.His64=) n.712C= | |
5 | g.56859762C>G | CA359802414 | MAP3K1 | c.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 | |
5 | g.56859762C>T | CA3272587 | MAP3K1 | c.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 |
5 | g.56859763T>A | CA359802415 | MAP3K1 | c.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 | |
5 | g.56859763T>C | CA444391640 | MAP3K1 | c.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 | |
5 | g.56859763T>G | CA359802416 | MAP3K1 | c.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 | |
5 | g.56859764T>A | CA359802419 | MAP3K1 | c.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 | |
5 | g.56859764T>C | CA359802418 | MAP3K1 | c.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 | |
5 | g.56859764T>G | CA359802417 | MAP3K1 | c.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 | |
5 | g.56859765A>C | CA359802420 | MAP3K1 | c.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 | |
5 | g.56859765A>G | CA444391641 | MAP3K1 | c.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 | |
5 | g.56859765A>T | CA359802421 | MAP3K1 | c.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 | |
5 | g.56859768_56859770del | CA2673908358 | MAP3K1 | c.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 |
5 | g.56859766G>A | CA359802422 | MAP3K1 | c.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 | |
5 | g.56859766G>C | CA359802423 | MAP3K1 | c.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 |
5 | g.56859766G>T | CA359802424 | MAP3K1 | c.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 | |
5 | g.56859767C>A | CA359802425 | MAP3K1 | c.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 | |
5 | g.56859767C= | CA1548129198 | MAP3K1 | c.686C= (p.Ala229=) c.308C= (p.Ala103=) c.431C= (p.Ala144=) c.275C= (p.Ala92=) c.197C= (p.Ala66=) n.717C= | |
5 | g.56859767C>G | CA359802426 | MAP3K1 | c.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 | |
5 | g.56859767C>T | CA359802427 | MAP3K1 | c.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 |
5 | g.56859768A>C | CA444391645 | MAP3K1 | c.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 | |
5 | g.56859768A>G | CA444391644 | MAP3K1 | c.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 | |
5 | g.56859768A>T | CA444391643 | MAP3K1 | c.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 | |
5 | g.56859769G>A | CA359802428 | MAP3K1 | c.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 |
5 | g.56859769G>C | CA359802429 | MAP3K1 | c.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 |
5 | g.56859769G>T | CA359802430 | MAP3K1 | c.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 | |
5 | g.56859770C>A | CA359802431 | MAP3K1 | c.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 |
5 | g.56859770C= | CA1548129199 | MAP3K1 | c.689C= (p.Ala230=) c.311C= (p.Ala104=) c.434C= (p.Ala145=) c.278C= (p.Ala93=) c.200C= (p.Ala67=) n.720C= | |
5 | g.56859770C>G | CA119520075 | MAP3K1 | c.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 |
5 | g.56859770C>T | CA359802432 | MAP3K1 | c.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 |
5 | g.56859771T>A | CA444391649 | MAP3K1 | c.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 | |
5 | g.56859771T>C | CA444391650 | MAP3K1 | c.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 |
5 | g.56859771T>G | CA444391651 | MAP3K1 | c.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 | |
5 | g.56859771T= | CA1548129200 | MAP3K1 | c.690T= (p.Ala230=) c.312T= (p.Ala104=) c.435T= (p.Ala145=) c.279T= (p.Ala93=) c.201T= (p.Ala67=) n.721T= | |
5 | g.56859772G>A | CA359802435 | MAP3K1 | c.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 | |
5 | g.56859772G>C | CA359802433 | MAP3K1 | c.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 | |
5 | g.56859772G>T | CA359802434 | MAP3K1 | c.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 | |
5 | g.56859773A>C | CA359802436 | MAP3K1 | c.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 | |
5 | g.56859773A>G | CA359802437 | MAP3K1 | c.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 | |
5 | g.56859773A>T | CA359802438 | MAP3K1 | c.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 | |
5 | g.56859774G>A | CA119520078 | MAP3K1 | c.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 |
5 | g.56859774G>C | CA3272588 | MAP3K1 | c.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 |
5 | g.56859774G= | CA1548129201 | MAP3K1 | c.693G= (p.Glu231=) c.315G= (p.Glu105=) c.438G= (p.Glu146=) c.282G= (p.Glu94=) c.204G= (p.Glu68=) n.724G= | |
5 | g.56859774G>T | CA359802439 | MAP3K1 | c.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 | |
5 | g.56859775T>A | CA359802440 | MAP3K1 | c.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 | |
5 | g.56859775T>C | CA359802441 | MAP3K1 | c.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 | |
5 | g.56859775T>G | CA359802442 | MAP3K1 | c.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 | |
5 | g.56859776C>A | CA359802443 | MAP3K1 | c.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 | |
5 | g.56859776C>G | CA359802444 | MAP3K1 | c.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 | |
5 | g.56859776C>T | CA359802445 | MAP3K1 | c.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 | |
5 | g.56859777T>A | CA444391656 | MAP3K1 | c.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 | |
5 | g.56859777T>C | CA444391657 | MAP3K1 | c.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 |
5 | g.56859777T>G | CA444391658 | MAP3K1 | c.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 | |
5 | g.56859778C>A | CA359802448 | MAP3K1 | c.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 | |
5 | g.56859778C>G | CA359802447 | MAP3K1 | c.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 | |
5 | g.56859778C>T | CA359802446 | MAP3K1 | c.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 |
5 | g.56859779del | CA444391659 | MAP3K1 | c.698del (p.Pro233GlnfsTer30) c.320del (p.Pro107GlnfsTer30) c.443del (p.Pro148GlnfsTer30) c.287del (p.Pro96GlnfsTer30) c.209del (p.Pro70GlnfsTer30) n.729del | COSMIC |
5 | g.56859779C>A | CA359802449 | MAP3K1 | c.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 | |
5 | g.56859779C>G | CA359802450 | MAP3K1 | c.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 | |
5 | g.56859779C>T | CA359802451 | MAP3K1 | c.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 |
5 | g.56859780A= | CA1548129202 | MAP3K1 | c.699A= (p.Pro233=) c.321A= (p.Pro107=) c.444A= (p.Pro148=) c.288A= (p.Pro96=) c.210A= (p.Pro70=) n.730A= | |
5 | g.56859780A>C | CA444391661 | MAP3K1 | c.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 | |
5 | g.56859780A>G | CA3272589 | MAP3K1 | c.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 |
5 | g.56859780A>T | CA444391662 | MAP3K1 | c.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 | |
5 | g.56859781G>A | CA359802452 | MAP3K1 | c.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 |
5 | g.56859781G>C | CA359802453 | MAP3K1 | c.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 | |
5 | g.56859781G= | CA1548129203 | MAP3K1 | c.700G= (p.Gly234=) c.322G= (p.Gly108=) c.445G= (p.Gly149=) c.289G= (p.Gly97=) c.211G= (p.Gly71=) n.731G= | |
5 | g.56859781G>T | CA359802454 | MAP3K1 | c.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 | |
5 | g.56859782G>A | CA359802455 | MAP3K1 | c.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 | |
5 | g.56859782G>C | CA359802456 | MAP3K1 | c.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 | |
5 | g.56859782G>T | CA359802457 | MAP3K1 | c.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 | |
5 | g.56859783A>C | CA444391665 | MAP3K1 | c.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 | |
5 | g.56859783A>G | CA444391664 | MAP3K1 | c.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 |
5 | g.56859783A>T | CA444391663 | MAP3K1 | c.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 | |
5 | g.56859784G>A | CA359802458 | MAP3K1 | c.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 | |
5 | g.56859784G>C | CA359802459 | MAP3K1 | c.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 | |
5 | g.56859784G>T | CA359802460 | MAP3K1 | c.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 | |
5 | g.56859785A= | CA1548129204 | MAP3K1 | c.704A= (p.Glu235=) c.326A= (p.Glu109=) c.449A= (p.Glu150=) c.293A= (p.Glu98=) c.215A= (p.Glu72=) n.735A= | |
5 | g.56859785A>C | CA359802461 | MAP3K1 | c.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 | |
5 | g.56859785A>G | CA119520081 | MAP3K1 | c.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 |
5 | g.56859785A>T | CA359802462 | MAP3K1 | c.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 | |
5 | g.56859786G>A | CA444391667 | MAP3K1 | c.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 | |
5 | g.56859786G>C | CA359802463 | MAP3K1 | c.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 |
5 | g.56859786G= | CA1548129205 | MAP3K1 | c.705G= (p.Glu235=) c.327G= (p.Glu109=) c.450G= (p.Glu150=) c.294G= (p.Glu98=) c.216G= (p.Glu72=) n.736G= | |
5 | g.56859786G>T | CA359802464 | MAP3K1 | c.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 |
5 | g.56859787G>A | CA359802465 | MAP3K1 | c.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 | |
5 | g.56859787G>C | CA359802466 | MAP3K1 | c.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 | |
5 | g.56859787G>T | CA359802467 | MAP3K1 | c.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 | |
5 | g.56859788T>A | CA359802468 | MAP3K1 | c.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 | |
5 | g.56859788T>C | CA359802469 | MAP3K1 | c.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 | |
5 | g.56859788T>G | CA3272590 | MAP3K1 | c.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 |
5 | g.56859788T= | CA1548129206 | MAP3K1 | c.707T= (p.Val236=) c.329T= (p.Val110=) c.452T= (p.Val151=) c.296T= (p.Val99=) c.218T= (p.Val73=) n.738T= | |
5 | g.56859789C>A | CA444391669 | MAP3K1 | c.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 |
5 | g.56859789C= | CA1548129207 | MAP3K1 | c.708C= (p.Val236=) c.330C= (p.Val110=) c.453C= (p.Val151=) c.297C= (p.Val99=) c.219C= (p.Val73=) n.739C= | |
5 | g.56859789C>G | CA444391670 | MAP3K1 | c.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 |
5 | g.56859789C>T | CA444391671 | MAP3K1 | c.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 |
5 | g.56859790C>A | CA359802470 | MAP3K1 | c.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 | |
5 | g.56859790C>G | CA359802471 | MAP3K1 | c.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 | |
5 | g.56859790C>T | CA359802472 | MAP3K1 | c.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 |
5 | g.56859791A= | CA1548129208 | MAP3K1 | c.710A= (p.Gln237=) c.332A= (p.Gln111=) c.455A= (p.Gln152=) c.299A= (p.Gln100=) c.221A= (p.Gln74=) n.741A= | |
5 | g.56859791A>C | CA359802474 | MAP3K1 | c.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 | |
5 | g.56859791A>G | CA3272591 | MAP3K1 | c.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 |
5 | g.56859791A>T | CA359802473 | MAP3K1 | c.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 |
5 | g.56859792G>A | CA119520085 | MAP3K1 | c.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 |
5 | g.56859792G>C | CA359802476 | MAP3K1 | c.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 | |
5 | g.56859792G= | CA1548129209 | MAP3K1 | c.711G= (p.Gln237=) c.333G= (p.Gln111=) c.456G= (p.Gln152=) c.300G= (p.Gln100=) c.222G= (p.Gln74=) n.742G= | |
5 | g.56859792G>T | CA359802475 | MAP3K1 | c.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 | |
5 | g.56859793G>A | CA359802479 | MAP3K1 | c.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 |
5 | g.56859793G>C | CA359802477 | MAP3K1 | c.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 | |
5 | g.56859793G>T | CA359802478 | MAP3K1 | c.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 | |
5 | g.56859794C>A | CA359802480 | MAP3K1 | c.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 |
5 | g.56859794C= | CA1548129210 | MAP3K1 | c.713C= (p.Ala238=) c.335C= (p.Ala112=) c.458C= (p.Ala153=) c.302C= (p.Ala101=) c.224C= (p.Ala75=) n.744C= | |
5 | g.56859794C>G | CA359802481 | MAP3K1 | c.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 | |
5 | g.56859794C>T | CA359802482 | MAP3K1 | c.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 |
5 | g.56859795A>C | CA444391674 | MAP3K1 | c.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 | |
5 | g.56859795A>G | CA444391675 | MAP3K1 | c.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 | |
5 | g.56859795A>T | CA444391676 | MAP3K1 | c.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 | |
5 | g.56859796A>C | CA359802485 | MAP3K1 | c.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 | |
5 | g.56859796A>G | CA359802484 | MAP3K1 | c.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 | |
5 | g.56859796A>T | CA359802483 | MAP3K1 | c.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 | |
5 | g.56859797G>A | CA3272592 | MAP3K1 | c.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 |
5 | g.56859797G>C | CA359802486 | MAP3K1 | c.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 | |
5 | g.56859797G= | CA1548129211 | MAP3K1 | c.716G= (p.Ser239=) c.338G= (p.Ser113=) c.461G= (p.Ser154=) c.305G= (p.Ser102=) c.227G= (p.Ser76=) n.747G= | |
5 | g.56859797G>T | CA119520088 | MAP3K1 | c.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 |
5 | g.56859798T>A | CA359802487 | MAP3K1 | c.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 | |
5 | g.56859798T>C | CA3272593 | MAP3K1 | c.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 |
5 | g.56859798T>G | CA3272594 | MAP3K1 | c.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 |
5 | g.56859798T= | CA1548129212 | MAP3K1 | c.717T= (p.Ser239=) c.339T= (p.Ser113=) c.462T= (p.Ser154=) c.306T= (p.Ser102=) c.228T= (p.Ser76=) n.748T= | |
5 | g.56859799G>A | CA359802488 | MAP3K1 | c.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 |
5 | g.56859799G>C | CA359802490 | MAP3K1 | c.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 | |
5 | g.56859799G>T | CA359802489 | MAP3K1 | c.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 | |
5 | g.56859800C>A | CA359802491 | MAP3K1 | c.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 |
5 | g.56859800C= | CA1548129213 | MAP3K1 | c.719C= (p.Ala240=) c.341C= (p.Ala114=) c.464C= (p.Ala155=) c.308C= (p.Ala103=) c.230C= (p.Ala77=) n.750C= | |
5 | g.56859800C>G | CA359802492 | MAP3K1 | c.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 |
5 | g.56859800C>T | CA3272595 | MAP3K1 | c.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 |
5 | g.56859801G>A | CA3272596 | MAP3K1 | c.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 |
5 | g.56859801G>C | CA444391680 | MAP3K1 | c.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 | |
5 | g.56859801G= | CA1548129214 | MAP3K1 | c.720G= (p.Ala240=) c.342G= (p.Ala114=) c.465G= (p.Ala155=) c.309G= (p.Ala103=) c.231G= (p.Ala77=) n.751G= | |
5 | g.56859801G>T | CA444391681 | MAP3K1 | c.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 | |
5 | g.56859801delinsTT | CA645563846 | MAP3K1 | c.720delinsTT (p.Ala241CysfsTer?) c.342delinsTT (p.Ala115CysfsTer?) c.465delinsTT (p.Ala156CysfsTer?) c.309delinsTT (p.Ala104CysfsTer?) c.231delinsTT (p.Ala78CysfsTer?) n.751delinsTT | COSMIC |
5 | g.56859802G>A | CA119520093 | MAP3K1 | c.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 |
5 | g.56859802G>C | CA359802493 | MAP3K1 | c.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 | |
5 | g.56859802G= | CA1548129215 | MAP3K1 | c.721G= (p.Ala241=) c.343G= (p.Ala115=) c.466G= (p.Ala156=) c.310G= (p.Ala104=) c.232G= (p.Ala78=) n.752G= | |
5 | g.56859802G>T | CA359802494 | MAP3K1 | c.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 | |
5 | g.56859803C>A | CA359802495 | MAP3K1 | c.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 | |
5 | g.56859803C>G | CA359802496 | MAP3K1 | c.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 |
5 | g.56859803C>T | CA359802497 | MAP3K1 | c.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 | |
5 | g.56859804T>A | CA444391682 | MAP3K1 | c.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 | |
5 | g.56859804T>C | CA444391684 | MAP3K1 | c.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 |
5 | g.56859804T>G | CA444391685 | MAP3K1 | c.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 | |
5 | g.56859804T= | CA1548129216 | MAP3K1 | c.723T= (p.Ala241=) c.345T= (p.Ala115=) c.468T= (p.Ala156=) c.312T= (p.Ala104=) c.234T= (p.Ala78=) n.754T= | |
5 | g.56859805T>A | CA359802500 | MAP3K1 | c.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 | |
5 | g.56859805T>C | CA359802499 | MAP3K1 | c.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 | |
5 | g.56859805T>G | CA359802498 | MAP3K1 | c.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 | |
5 | g.56859806C>A | CA359802501 | MAP3K1 | c.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 | |
5 | g.56859806C>G | CA359802502 | MAP3K1 | c.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 |
5 | g.56859806C>T | CA359802503 | MAP3K1 | c.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 |
5 | g.56859807A>C | CA444391686 | MAP3K1 | c.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 | |
5 | g.56859807A>G | CA444391687 | MAP3K1 | c.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 | |
5 | g.56859807A>T | CA444391688 | MAP3K1 | c.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 | |
5 | g.56859808C>A | CA359802504 | MAP3K1 | c.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 | |
5 | g.56859808C>G | CA359802505 | MAP3K1 | c.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 |
5 | g.56859808C>T | CA359802506 | MAP3K1 | c.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 | |
5 | g.56859809C>A | CA359802507 | MAP3K1 | c.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 | |
5 | g.56859809C= | CA1548129217 | MAP3K1 | c.728C= (p.Pro243=) c.350C= (p.Pro117=) c.473C= (p.Pro158=) c.317C= (p.Pro106=) c.239C= (p.Pro80=) n.759C= | |
5 | g.56859809C>G | CA359802508 | MAP3K1 | c.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 |
5 | g.56859809C>T | CA359802509 | MAP3K1 | c.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 |