Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35729921_35729996del | CA2814254885 | KMT2B | c.4852-46_4881del c.2459-46_2488del c.136-46_165del c.344-46_373del n.71-46_100del c.139-46_168del c.4460-46_4489del c.4918-46_4947del c.2240-46_2269del c.4642-46_4671del c.4354-46_4383del c.1882-46_1911del | |
19 | g.35729984G>A | CA507072468 | KMT2B | c.4869G>A (p.Leu1623=) c.2476G>A (n.2476G>A) c.153G>A (p.Leu51=) c.361G>A n.88G>A c.156G>A (p.Leu52=) c.4477G>A c.4935G>A (p.Leu1645=) c.2257G>A c.4659G>A (p.Leu1553=) c.4371G>A (p.Leu1457=) c.1899G>A (p.Leu633=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35729984G>C | CA507072469 | KMT2B | c.4869G>C (p.Leu1623=) c.2476G>C (n.2476G>C) c.153G>C (p.Leu51=) c.361G>C n.88G>C c.156G>C (p.Leu52=) c.4477G>C c.4935G>C (p.Leu1645=) c.2257G>C c.4659G>C (p.Leu1553=) c.4371G>C (p.Leu1457=) c.1899G>C (p.Leu633=) | |
19 | g.35729984G= | CA2333793077 | KMT2B | c.4869G= (p.Leu1623=) c.2476G= (n.2476G=) c.153G= (p.Leu51=) c.361G= n.88G= c.156G= (p.Leu52=) c.4477G= c.4935G= (p.Leu1645=) c.2257G= c.4659G= (p.Leu1553=) c.4371G= (p.Leu1457=) c.1899G= (p.Leu633=) | |
19 | g.35729984G>T | CA507072470 | KMT2B | c.4869G>T (p.Leu1623=) c.2476G>T (n.2476G>T) c.153G>T (p.Leu51=) c.361G>T n.88G>T c.156G>T (p.Leu52=) c.4477G>T c.4935G>T (p.Leu1645=) c.2257G>T c.4659G>T (p.Leu1553=) c.4371G>T (p.Leu1457=) c.1899G>T (p.Leu633=) | |
19 | g.35729985A>C | CA405418718 | KMT2B | c.4870A>C (p.Lys1624Gln) c.2477A>C (n.2477A>C) c.154A>C (p.Lys52Gln) c.362A>C n.89A>C c.157A>C (p.Lys53Gln) c.4478A>C c.4936A>C (p.Lys1646Gln) c.2258A>C c.4660A>C (p.Lys1554Gln) c.4372A>C (p.Lys1458Gln) c.1900A>C (p.Lys634Gln) | |
19 | g.35729985A>G | CA405418720 | KMT2B | c.4870A>G (p.Lys1624Glu) c.2477A>G (n.2477A>G) c.154A>G (p.Lys52Glu) c.362A>G n.89A>G c.157A>G (p.Lys53Glu) c.4478A>G c.4936A>G (p.Lys1646Glu) c.2258A>G c.4660A>G (p.Lys1554Glu) c.4372A>G (p.Lys1458Glu) c.1900A>G (p.Lys634Glu) | |
19 | g.35729985A>T | CA405418722 | KMT2B | c.4870A>T (p.Lys1624Ter) c.2477A>T (n.2477A>T) c.154A>T (p.Lys52Ter) c.362A>T n.89A>T c.157A>T (p.Lys53Ter) c.4478A>T c.4936A>T (p.Lys1646Ter) c.2258A>T c.4660A>T (p.Lys1554Ter) c.4372A>T (p.Lys1458Ter) c.1900A>T (p.Lys634Ter) | |
19 | g.35729986A>C | CA405418724 | KMT2B | c.4871A>C (p.Lys1624Thr) c.2478A>C (n.2478A>C) c.155A>C (p.Lys52Thr) c.363A>C n.90A>C c.158A>C (p.Lys53Thr) c.4479A>C c.4937A>C (p.Lys1646Thr) c.2259A>C c.4661A>C (p.Lys1554Thr) c.4373A>C (p.Lys1458Thr) c.1901A>C (p.Lys634Thr) | |
19 | g.35729986A>G | CA405418725 | KMT2B | c.4871A>G (p.Lys1624Arg) c.2478A>G (n.2478A>G) c.155A>G (p.Lys52Arg) c.363A>G n.90A>G c.158A>G (p.Lys53Arg) c.4479A>G c.4937A>G (p.Lys1646Arg) c.2259A>G c.4661A>G (p.Lys1554Arg) c.4373A>G (p.Lys1458Arg) c.1901A>G (p.Lys634Arg) | |
19 | g.35729986A>T | CA405418726 | KMT2B | c.4871A>T (p.Lys1624Met) c.2478A>T (n.2478A>T) c.155A>T (p.Lys52Met) c.363A>T n.90A>T c.158A>T (p.Lys53Met) c.4479A>T c.4937A>T (p.Lys1646Met) c.2259A>T c.4661A>T (p.Lys1554Met) c.4373A>T (p.Lys1458Met) c.1901A>T (p.Lys634Met) | |
19 | g.35729987G>A | CA507072475 | KMT2B | c.4872G>A (p.Lys1624=) c.2479G>A (n.2479G>A) c.156G>A (p.Lys52=) c.364G>A n.91G>A c.159G>A (p.Lys53=) c.4480G>A c.4938G>A (p.Lys1646=) c.2260G>A c.4662G>A (p.Lys1554=) c.4374G>A (p.Lys1458=) c.1902G>A (p.Lys634=) | |
19 | g.35729987G>C | CA405418727 | KMT2B | c.4872G>C (p.Lys1624Asn) c.2479G>C (n.2479G>C) c.156G>C (p.Lys52Asn) c.364G>C n.91G>C c.159G>C (p.Lys53Asn) c.4480G>C c.4938G>C (p.Lys1646Asn) c.2260G>C c.4662G>C (p.Lys1554Asn) c.4374G>C (p.Lys1458Asn) c.1902G>C (p.Lys634Asn) | |
19 | g.35729987G>T | CA405418728 | KMT2B | c.4872G>T (p.Lys1624Asn) c.2479G>T (n.2479G>T) c.156G>T (p.Lys52Asn) c.364G>T n.91G>T c.159G>T (p.Lys53Asn) c.4480G>T c.4938G>T (p.Lys1646Asn) c.2260G>T c.4662G>T (p.Lys1554Asn) c.4374G>T (p.Lys1458Asn) c.1902G>T (p.Lys634Asn) | |
19 | g.35729988C>A | CA9385259 | KMT2B | c.4873C>A (p.Pro1625Thr) c.2480C>A (n.2480C>A) c.157C>A (p.Pro53Thr) c.365C>A n.92C>A c.160C>A (p.Pro54Thr) c.4481C>A c.4939C>A (p.Pro1647Thr) c.2261C>A c.4663C>A (p.Pro1555Thr) c.4375C>A (p.Pro1459Thr) c.1903C>A (p.Pro635Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35729988C= | CA2333793078 | KMT2B | c.4873C= (p.Pro1625=) c.2480C= (n.2480C=) c.157C= (p.Pro53=) c.365C= n.92C= c.160C= (p.Pro54=) c.4481C= c.4939C= (p.Pro1647=) c.2261C= c.4663C= (p.Pro1555=) c.4375C= (p.Pro1459=) c.1903C= (p.Pro635=) | |
19 | g.35729988C>G | CA405418731 | KMT2B | c.4873C>G (p.Pro1625Ala) c.2480C>G (n.2480C>G) c.157C>G (p.Pro53Ala) c.365C>G n.92C>G c.160C>G (p.Pro54Ala) c.4481C>G c.4939C>G (p.Pro1647Ala) c.2261C>G c.4663C>G (p.Pro1555Ala) c.4375C>G (p.Pro1459Ala) c.1903C>G (p.Pro635Ala) | |
19 | g.35729988C>T | CA405418733 | KMT2B | c.4873C>T (p.Pro1625Ser) c.2480C>T (n.2480C>T) c.157C>T (p.Pro53Ser) c.365C>T n.92C>T c.160C>T (p.Pro54Ser) c.4481C>T c.4939C>T (p.Pro1647Ser) c.2261C>T c.4663C>T (p.Pro1555Ser) c.4375C>T (p.Pro1459Ser) c.1903C>T (p.Pro635Ser) | |
19 | g.35729989C>A | CA405418735 | KMT2B | c.4874C>A (p.Pro1625His) c.2481C>A (n.2481C>A) c.158C>A (p.Pro53His) c.366C>A n.93C>A c.161C>A (p.Pro54His) c.4482C>A c.4940C>A (p.Pro1647His) c.2262C>A c.4664C>A (p.Pro1555His) c.4376C>A (p.Pro1459His) c.1904C>A (p.Pro635His) | |
19 | g.35729989C>G | CA405418737 | KMT2B | c.4874C>G (p.Pro1625Arg) c.2481C>G (n.2481C>G) c.158C>G (p.Pro53Arg) c.366C>G n.93C>G c.161C>G (p.Pro54Arg) c.4482C>G c.4940C>G (p.Pro1647Arg) c.2262C>G c.4664C>G (p.Pro1555Arg) c.4376C>G (p.Pro1459Arg) c.1904C>G (p.Pro635Arg) | |
19 | g.35729989C>T | CA405418738 | KMT2B | c.4874C>T (p.Pro1625Leu) c.2481C>T (n.2481C>T) c.158C>T (p.Pro53Leu) c.366C>T n.93C>T c.161C>T (p.Pro54Leu) c.4482C>T c.4940C>T (p.Pro1647Leu) c.2262C>T c.4664C>T (p.Pro1555Leu) c.4376C>T (p.Pro1459Leu) c.1904C>T (p.Pro635Leu) | |
19 | g.35729990T>A | CA507072486 | KMT2B | c.4875T>A (p.Pro1625=) c.2482T>A (n.2482T>A) c.159T>A (p.Pro53=) c.367T>A n.94T>A c.162T>A (p.Pro54=) c.4483T>A c.4941T>A (p.Pro1647=) c.2263T>A c.4665T>A (p.Pro1555=) c.4377T>A (p.Pro1459=) c.1905T>A (p.Pro635=) | |
19 | g.35729990T>C | CA9385260 | KMT2B | c.4875T>C (p.Pro1625=) c.2482T>C (n.2482T>C) c.159T>C (p.Pro53=) c.367T>C n.94T>C c.162T>C (p.Pro54=) c.4483T>C c.4941T>C (p.Pro1647=) c.2263T>C c.4665T>C (p.Pro1555=) c.4377T>C (p.Pro1459=) c.1905T>C (p.Pro635=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35729990T>G | CA507072490 | KMT2B | c.4875T>G (p.Pro1625=) c.2482T>G (n.2482T>G) c.159T>G (p.Pro53=) c.367T>G n.94T>G c.162T>G (p.Pro54=) c.4483T>G c.4941T>G (p.Pro1647=) c.2263T>G c.4665T>G (p.Pro1555=) c.4377T>G (p.Pro1459=) c.1905T>G (p.Pro635=) | |
19 | g.35729990T= | CA2333793079 | KMT2B | c.4875T= (p.Pro1625=) c.2482T= (n.2482T=) c.159T= (p.Pro53=) c.367T= n.94T= c.162T= (p.Pro54=) c.4483T= c.4941T= (p.Pro1647=) c.2263T= c.4665T= (p.Pro1555=) c.4377T= (p.Pro1459=) c.1905T= (p.Pro635=) | |
19 | g.35729991G>A | CA405418743 | KMT2B | c.4876G>A (p.Gly1626Ser) c.2483G>A (n.2483G>A) c.160G>A (p.Gly54Ser) c.368G>A n.95G>A c.163G>A (p.Gly55Ser) c.4484G>A c.4942G>A (p.Gly1648Ser) c.2264G>A c.4666G>A (p.Gly1556Ser) c.4378G>A (p.Gly1460Ser) c.1906G>A (p.Gly636Ser) | |
19 | g.35729991G>C | CA405418744 | KMT2B | c.4876G>C (p.Gly1626Arg) c.2483G>C (n.2483G>C) c.160G>C (p.Gly54Arg) c.368G>C n.95G>C c.163G>C (p.Gly55Arg) c.4484G>C c.4942G>C (p.Gly1648Arg) c.2264G>C c.4666G>C (p.Gly1556Arg) c.4378G>C (p.Gly1460Arg) c.1906G>C (p.Gly636Arg) | |
19 | g.35729991G>T | CA405418746 | KMT2B | c.4876G>T (p.Gly1626Cys) c.2483G>T (n.2483G>T) c.160G>T (p.Gly54Cys) c.368G>T n.95G>T c.163G>T (p.Gly55Cys) c.4484G>T c.4942G>T (p.Gly1648Cys) c.2264G>T c.4666G>T (p.Gly1556Cys) c.4378G>T (p.Gly1460Cys) c.1906G>T (p.Gly636Cys) | |
19 | g.35729992G>A | CA405418748 | KMT2B | c.4877G>A (p.Gly1626Asp) c.2484G>A (n.2484G>A) c.161G>A (p.Gly54Asp) c.369G>A n.96G>A c.164G>A (p.Gly55Asp) c.4485G>A c.4943G>A (p.Gly1648Asp) c.2265G>A c.4667G>A (p.Gly1556Asp) c.4379G>A (p.Gly1460Asp) c.1907G>A (p.Gly636Asp) | |
19 | g.35729992G>C | CA405418750 | KMT2B | c.4877G>C (p.Gly1626Ala) c.2484G>C (n.2484G>C) c.161G>C (p.Gly54Ala) c.369G>C n.96G>C c.164G>C (p.Gly55Ala) c.4485G>C c.4943G>C (p.Gly1648Ala) c.2265G>C c.4667G>C (p.Gly1556Ala) c.4379G>C (p.Gly1460Ala) c.1907G>C (p.Gly636Ala) | |
19 | g.35729992G>T | CA405418752 | KMT2B | c.4877G>T (p.Gly1626Val) c.2484G>T (n.2484G>T) c.161G>T (p.Gly54Val) c.369G>T n.96G>T c.164G>T (p.Gly55Val) c.4485G>T c.4943G>T (p.Gly1648Val) c.2265G>T c.4667G>T (p.Gly1556Val) c.4379G>T (p.Gly1460Val) c.1907G>T (p.Gly636Val) | |
19 | g.35729993C>A | CA507072498 | KMT2B | c.4878C>A (p.Gly1626=) c.2485C>A (n.2485C>A) c.162C>A (p.Gly54=) c.370C>A n.97C>A c.165C>A (p.Gly55=) c.4486C>A c.4944C>A (p.Gly1648=) c.2266C>A c.4668C>A (p.Gly1556=) c.4380C>A (p.Gly1460=) c.1908C>A (p.Gly636=) | |
19 | g.35729993C= | CA2333793080 | KMT2B | c.4878C= (p.Gly1626=) c.2485C= (n.2485C=) c.162C= (p.Gly54=) c.370C= n.97C= c.165C= (p.Gly55=) c.4486C= c.4944C= (p.Gly1648=) c.2266C= c.4668C= (p.Gly1556=) c.4380C= (p.Gly1460=) c.1908C= (p.Gly636=) | |
19 | g.35729993C>G | CA507072499 | KMT2B | c.4878C>G (p.Gly1626=) c.2485C>G (n.2485C>G) c.162C>G (p.Gly54=) c.370C>G n.97C>G c.165C>G (p.Gly55=) c.4486C>G c.4944C>G (p.Gly1648=) c.2266C>G c.4668C>G (p.Gly1556=) c.4380C>G (p.Gly1460=) c.1908C>G (p.Gly636=) | |
19 | g.35729993C>T | CA9385261 | KMT2B | c.4878C>T (p.Gly1626=) c.2485C>T (n.2485C>T) c.162C>T (p.Gly54=) c.370C>T n.97C>T c.165C>T (p.Gly55=) c.4486C>T c.4944C>T (p.Gly1648=) c.2266C>T c.4668C>T (p.Gly1556=) c.4380C>T (p.Gly1460=) c.1908C>T (p.Gly636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35729994G>A | CA405418756 | KMT2B | c.4879G>A (p.Ala1627Thr) c.2486G>A (n.2486G>A) c.163G>A (p.Ala55Thr) c.371G>A n.98G>A c.166G>A (p.Ala56Thr) c.4487G>A c.4945G>A (p.Ala1649Thr) c.2267G>A c.4669G>A (p.Ala1557Thr) c.4381G>A (p.Ala1461Thr) c.1909G>A (p.Ala637Thr) | |
19 | g.35729994G>C | CA405418758 | KMT2B | c.4879G>C (p.Ala1627Pro) c.2486G>C (n.2486G>C) c.163G>C (p.Ala55Pro) c.371G>C n.98G>C c.166G>C (p.Ala56Pro) c.4487G>C c.4945G>C (p.Ala1649Pro) c.2267G>C c.4669G>C (p.Ala1557Pro) c.4381G>C (p.Ala1461Pro) c.1909G>C (p.Ala637Pro) | |
19 | g.35729994G>T | CA405418759 | KMT2B | c.4879G>T (p.Ala1627Ser) c.2486G>T (n.2486G>T) c.163G>T (p.Ala55Ser) c.371G>T n.98G>T c.166G>T (p.Ala56Ser) c.4487G>T c.4945G>T (p.Ala1649Ser) c.2267G>T c.4669G>T (p.Ala1557Ser) c.4381G>T (p.Ala1461Ser) c.1909G>T (p.Ala637Ser) | |
19 | g.35729995C>A | CA405418762 | KMT2B | c.4880C>A (p.Ala1627Asp) c.2487C>A (n.2487C>A) c.164C>A (p.Ala55Asp) c.372C>A n.99C>A c.167C>A (p.Ala56Asp) c.4488C>A c.4946C>A (p.Ala1649Asp) c.2268C>A c.4670C>A (p.Ala1557Asp) c.4382C>A (p.Ala1461Asp) c.1910C>A (p.Ala637Asp) | |
19 | g.35729995C>G | CA405418764 | KMT2B | c.4880C>G (p.Ala1627Gly) c.2487C>G (n.2487C>G) c.164C>G (p.Ala55Gly) c.372C>G n.99C>G c.167C>G (p.Ala56Gly) c.4488C>G c.4946C>G (p.Ala1649Gly) c.2268C>G c.4670C>G (p.Ala1557Gly) c.4382C>G (p.Ala1461Gly) c.1910C>G (p.Ala637Gly) | |
19 | g.35729995C>T | CA405418765 | KMT2B | c.4880C>T (p.Ala1627Val) c.2487C>T (n.2487C>T) c.164C>T (p.Ala55Val) c.372C>T n.99C>T c.167C>T (p.Ala56Val) c.4488C>T c.4946C>T (p.Ala1649Val) c.2268C>T c.4670C>T (p.Ala1557Val) c.4382C>T (p.Ala1461Val) c.1910C>T (p.Ala637Val) | |
19 | g.35729996C>A | CA507072504 | KMT2B | c.4881C>A (p.Ala1627=) c.2488C>A (n.2488C>A) c.165C>A (p.Ala55=) c.373C>A n.100C>A c.168C>A (p.Ala56=) c.4489C>A c.4947C>A (p.Ala1649=) c.2269C>A c.4671C>A (p.Ala1557=) c.4383C>A (p.Ala1461=) c.1911C>A (p.Ala637=) | |
19 | g.35729996C= | CA2333793081 | KMT2B | c.4881C= (p.Ala1627=) c.2488C= (n.2488C=) c.165C= (p.Ala55=) c.373C= n.100C= c.168C= (p.Ala56=) c.4489C= c.4947C= (p.Ala1649=) c.2269C= c.4671C= (p.Ala1557=) c.4383C= (p.Ala1461=) c.1911C= (p.Ala637=) | |
19 | g.35729996C>G | CA507072505 | KMT2B | c.4881C>G (p.Ala1627=) c.2488C>G (n.2488C>G) c.165C>G (p.Ala55=) c.373C>G n.100C>G c.168C>G (p.Ala56=) c.4489C>G c.4947C>G (p.Ala1649=) c.2269C>G c.4671C>G (p.Ala1557=) c.4383C>G (p.Ala1461=) c.1911C>G (p.Ala637=) | dbSNP gnomAD v4 |
19 | g.35729996C>T | CA507072508 | KMT2B | c.4881C>T (p.Ala1627=) c.2488C>T (n.2488C>T) c.165C>T (p.Ala55=) c.373C>T n.100C>T c.168C>T (p.Ala56=) c.4489C>T c.4947C>T (p.Ala1649=) c.2269C>T c.4671C>T (p.Ala1557=) c.4383C>T (p.Ala1461=) c.1911C>T (p.Ala637=) | |
19 | g.35729997A= | CA2333793082 | KMT2B | c.4882A= (p.Thr1628=) c.2489A= (n.2489A=) c.166A= (p.Thr56=) c.374A= n.101A= c.169A= (p.Thr57=) c.4490A= c.4948A= (p.Thr1650=) c.2270A= c.4672A= (p.Thr1558=) c.4384A= (p.Thr1462=) c.1912A= (p.Thr638=) | |
19 | g.35729997A>C | CA405418771 | KMT2B | c.4882A>C (p.Thr1628Pro) c.2489A>C (n.2489A>C) c.166A>C (p.Thr56Pro) c.374A>C n.101A>C c.169A>C (p.Thr57Pro) c.4490A>C c.4948A>C (p.Thr1650Pro) c.2270A>C c.4672A>C (p.Thr1558Pro) c.4384A>C (p.Thr1462Pro) c.1912A>C (p.Thr638Pro) | |
19 | g.35729997A>G | CA405418769 | KMT2B | c.4882A>G (p.Thr1628Ala) c.2489A>G (n.2489A>G) c.166A>G (p.Thr56Ala) c.374A>G n.101A>G c.169A>G (p.Thr57Ala) c.4490A>G c.4948A>G (p.Thr1650Ala) c.2270A>G c.4672A>G (p.Thr1558Ala) c.4384A>G (p.Thr1462Ala) c.1912A>G (p.Thr638Ala) | dbSNP gnomAD v2 |
19 | g.35729997A>T | CA405418767 | KMT2B | c.4882A>T (p.Thr1628Ser) c.2489A>T (n.2489A>T) c.166A>T (p.Thr56Ser) c.374A>T n.101A>T c.169A>T (p.Thr57Ser) c.4490A>T c.4948A>T (p.Thr1650Ser) c.2270A>T c.4672A>T (p.Thr1558Ser) c.4384A>T (p.Thr1462Ser) c.1912A>T (p.Thr638Ser) | |
19 | g.35729998C>A | CA405418773 | KMT2B | c.4883C>A (p.Thr1628Lys) c.2490C>A (n.2490C>A) c.167C>A (p.Thr56Lys) c.375C>A n.102C>A c.170C>A (p.Thr57Lys) c.4491C>A c.4949C>A (p.Thr1650Lys) c.2271C>A c.4673C>A (p.Thr1558Lys) c.4385C>A (p.Thr1462Lys) c.1913C>A (p.Thr638Lys) | |
19 | g.35729998C= | CA2333793083 | KMT2B | c.4883C= (p.Thr1628=) c.2490C= (n.2490C=) c.167C= (p.Thr56=) c.375C= n.102C= c.170C= (p.Thr57=) c.4491C= c.4949C= (p.Thr1650=) c.2271C= c.4673C= (p.Thr1558=) c.4385C= (p.Thr1462=) c.1913C= (p.Thr638=) | |
19 | g.35729998C>G | CA405418778 | KMT2B | c.4883C>G (p.Thr1628Arg) c.2490C>G (n.2490C>G) c.167C>G (p.Thr56Arg) c.375C>G n.102C>G c.170C>G (p.Thr57Arg) c.4491C>G c.4949C>G (p.Thr1650Arg) c.2271C>G c.4673C>G (p.Thr1558Arg) c.4385C>G (p.Thr1462Arg) c.1913C>G (p.Thr638Arg) | |
19 | g.35729998C>T | CA405418776 | KMT2B | c.4883C>T (p.Thr1628Met) c.2490C>T (n.2490C>T) c.167C>T (p.Thr56Met) c.375C>T n.102C>T c.170C>T (p.Thr57Met) c.4491C>T c.4949C>T (p.Thr1650Met) c.2271C>T c.4673C>T (p.Thr1558Met) c.4385C>T (p.Thr1462Met) c.1913C>T (p.Thr638Met) | ClinVar dbSNP COSMIC |
19 | g.35729999G>A | CA9385262 | KMT2B | c.4884G>A (p.Thr1628=) c.2491G>A (n.2491G>A) c.168G>A (p.Thr56=) c.376G>A n.103G>A c.171G>A (p.Thr57=) c.4492G>A c.4950G>A (p.Thr1650=) c.2272G>A c.4674G>A (p.Thr1558=) c.4386G>A (p.Thr1462=) c.1914G>A (p.Thr638=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35729999G>C | CA507072511 | KMT2B | c.4884G>C (p.Thr1628=) c.2491G>C (n.2491G>C) c.168G>C (p.Thr56=) c.376G>C n.103G>C c.171G>C (p.Thr57=) c.4492G>C c.4950G>C (p.Thr1650=) c.2272G>C c.4674G>C (p.Thr1558=) c.4386G>C (p.Thr1462=) c.1914G>C (p.Thr638=) | |
19 | g.35729999G= | CA2333793084 | KMT2B | c.4884G= (p.Thr1628=) c.2491G= (n.2491G=) c.168G= (p.Thr56=) c.376G= n.103G= c.171G= (p.Thr57=) c.4492G= c.4950G= (p.Thr1650=) c.2272G= c.4674G= (p.Thr1558=) c.4386G= (p.Thr1462=) c.1914G= (p.Thr638=) | |
19 | g.35729999G>T | CA9385263 | KMT2B | c.4884G>T (p.Thr1628=) c.2491G>T (n.2491G>T) c.168G>T (p.Thr56=) c.376G>T n.103G>T c.171G>T (p.Thr57=) c.4492G>T c.4950G>T (p.Thr1650=) c.2272G>T c.4674G>T (p.Thr1558=) c.4386G>T (p.Thr1462=) c.1914G>T (p.Thr638=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730000G>A | CA405418784 | KMT2B | c.4885G>A (p.Val1629Met) c.2492G>A (n.2492G>A) c.169G>A (p.Val57Met) c.377G>A n.104G>A c.172G>A (p.Val58Met) c.4493G>A c.4951G>A (p.Val1651Met) c.2273G>A c.4675G>A (p.Val1559Met) c.4387G>A (p.Val1463Met) c.1915G>A (p.Val639Met) | |
19 | g.35730000G>C | CA405418787 | KMT2B | c.4885G>C (p.Val1629Leu) c.2492G>C (n.2492G>C) c.169G>C (p.Val57Leu) c.377G>C n.104G>C c.172G>C (p.Val58Leu) c.4493G>C c.4951G>C (p.Val1651Leu) c.2273G>C c.4675G>C (p.Val1559Leu) c.4387G>C (p.Val1463Leu) c.1915G>C (p.Val639Leu) | |
19 | g.35730000G>T | CA405418789 | KMT2B | c.4885G>T (p.Val1629Leu) c.2492G>T (n.2492G>T) c.169G>T (p.Val57Leu) c.377G>T n.104G>T c.172G>T (p.Val58Leu) c.4493G>T c.4951G>T (p.Val1651Leu) c.2273G>T c.4675G>T (p.Val1559Leu) c.4387G>T (p.Val1463Leu) c.1915G>T (p.Val639Leu) | |
19 | g.35730001T>A | CA405418791 | KMT2B | c.4886T>A (p.Val1629Glu) c.2493T>A (n.2493T>A) c.170T>A (p.Val57Glu) c.378T>A n.105T>A c.173T>A (p.Val58Glu) c.4494T>A c.4952T>A (p.Val1651Glu) c.2274T>A c.4676T>A (p.Val1559Glu) c.4388T>A (p.Val1463Glu) c.1916T>A (p.Val639Glu) | |
19 | g.35730001T>C | CA405418793 | KMT2B | c.4886T>C (p.Val1629Ala) c.2493T>C (n.2493T>C) c.170T>C (p.Val57Ala) c.378T>C n.105T>C c.173T>C (p.Val58Ala) c.4494T>C c.4952T>C (p.Val1651Ala) c.2274T>C c.4676T>C (p.Val1559Ala) c.4388T>C (p.Val1463Ala) c.1916T>C (p.Val639Ala) | |
19 | g.35730001T>G | CA405418795 | KMT2B | c.4886T>G (p.Val1629Gly) c.2493T>G (n.2493T>G) c.170T>G (p.Val57Gly) c.378T>G n.105T>G c.173T>G (p.Val58Gly) c.4494T>G c.4952T>G (p.Val1651Gly) c.2274T>G c.4676T>G (p.Val1559Gly) c.4388T>G (p.Val1463Gly) c.1916T>G (p.Val639Gly) | |
19 | g.35730002G>A | CA9385264 | KMT2B | c.4887G>A (p.Val1629=) c.2494G>A (n.2494G>A) c.171G>A (p.Val57=) c.379G>A n.106G>A c.174G>A (p.Val58=) c.4495G>A c.4953G>A (p.Val1651=) c.2275G>A c.4677G>A (p.Val1559=) c.4389G>A (p.Val1463=) c.1917G>A (p.Val639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730002G>C | CA507072523 | KMT2B | c.4887G>C (p.Val1629=) c.2494G>C (n.2494G>C) c.171G>C (p.Val57=) c.379G>C n.106G>C c.174G>C (p.Val58=) c.4495G>C c.4953G>C (p.Val1651=) c.2275G>C c.4677G>C (p.Val1559=) c.4389G>C (p.Val1463=) c.1917G>C (p.Val639=) | |
19 | g.35730002G= | CA2333793085 | KMT2B | c.4887G= (p.Val1629=) c.2494G= (n.2494G=) c.171G= (p.Val57=) c.379G= n.106G= c.174G= (p.Val58=) c.4495G= c.4953G= (p.Val1651=) c.2275G= c.4677G= (p.Val1559=) c.4389G= (p.Val1463=) c.1917G= (p.Val639=) | |
19 | g.35730002G>T | CA507072520 | KMT2B | c.4887G>T (p.Val1629=) c.2494G>T (n.2494G>T) c.171G>T (p.Val57=) c.379G>T n.106G>T c.174G>T (p.Val58=) c.4495G>T c.4953G>T (p.Val1651=) c.2275G>T c.4677G>T (p.Val1559=) c.4389G>T (p.Val1463=) c.1917G>T (p.Val639=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35730004dup | CA2841614527 | KMT2B | c.4889dup (p.Cys1631LeufsTer25) c.2496dup (n.2496dup) c.173dup (p.Cys59LeufsTer25) c.381dup n.108dup c.176dup (p.Cys60LeufsTer25) c.4497dup c.4955dup (p.Cys1653LeufsTer25) c.2277dup c.4679dup (p.Cys1561LeufsTer25) c.4391dup (p.Cys1465LeufsTer25) c.1919dup (p.Cys641LeufsTer25) | |
19 | g.35730003G>A | CA405418800 | KMT2B | c.4888G>A (p.Gly1630Ser) c.2495G>A (n.2495G>A) c.172G>A (p.Gly58Ser) c.380G>A n.107G>A c.175G>A (p.Gly59Ser) c.4496G>A c.4954G>A (p.Gly1652Ser) c.2276G>A c.4678G>A (p.Gly1560Ser) c.4390G>A (p.Gly1464Ser) c.1918G>A (p.Gly640Ser) | |
19 | g.35730003G>C | CA405418802 | KMT2B | c.4888G>C (p.Gly1630Arg) c.2495G>C (n.2495G>C) c.172G>C (p.Gly58Arg) c.380G>C n.107G>C c.175G>C (p.Gly59Arg) c.4496G>C c.4954G>C (p.Gly1652Arg) c.2276G>C c.4678G>C (p.Gly1560Arg) c.4390G>C (p.Gly1464Arg) c.1918G>C (p.Gly640Arg) | |
19 | g.35730003G>T | CA405418804 | KMT2B | c.4888G>T (p.Gly1630Cys) c.2495G>T (n.2495G>T) c.172G>T (p.Gly58Cys) c.380G>T n.107G>T c.175G>T (p.Gly59Cys) c.4496G>T c.4954G>T (p.Gly1652Cys) c.2276G>T c.4678G>T (p.Gly1560Cys) c.4390G>T (p.Gly1464Cys) c.1918G>T (p.Gly640Cys) | |
19 | g.35730004G>A | CA405418811 | KMT2B | c.4889G>A (p.Gly1630Asp) c.2496G>A (n.2496G>A) c.173G>A (p.Gly58Asp) c.381G>A n.108G>A c.176G>A (p.Gly59Asp) c.4497G>A c.4955G>A (p.Gly1652Asp) c.2277G>A c.4679G>A (p.Gly1560Asp) c.4391G>A (p.Gly1464Asp) c.1919G>A (p.Gly640Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.35730004G>C | CA405418807 | KMT2B | c.4889G>C (p.Gly1630Ala) c.2496G>C (n.2496G>C) c.173G>C (p.Gly58Ala) c.381G>C n.108G>C c.176G>C (p.Gly59Ala) c.4497G>C c.4955G>C (p.Gly1652Ala) c.2277G>C c.4679G>C (p.Gly1560Ala) c.4391G>C (p.Gly1464Ala) c.1919G>C (p.Gly640Ala) | |
19 | g.35730004G= | CA2333793086 | KMT2B | c.4889G= (p.Gly1630=) c.2496G= (n.2496G=) c.173G= (p.Gly58=) c.381G= n.108G= c.176G= (p.Gly59=) c.4497G= c.4955G= (p.Gly1652=) c.2277G= c.4679G= (p.Gly1560=) c.4391G= (p.Gly1464=) c.1919G= (p.Gly640=) | |
19 | g.35730004G>T | CA405418809 | KMT2B | c.4889G>T (p.Gly1630Val) c.2496G>T (n.2496G>T) c.173G>T (p.Gly58Val) c.381G>T n.108G>T c.176G>T (p.Gly59Val) c.4497G>T c.4955G>T (p.Gly1652Val) c.2277G>T c.4679G>T (p.Gly1560Val) c.4391G>T (p.Gly1464Val) c.1919G>T (p.Gly640Val) | |
19 | g.35730005C>A | CA507072537 | KMT2B | c.4890C>A (p.Gly1630=) c.2497C>A (n.2497C>A) c.174C>A (p.Gly58=) c.382C>A n.109C>A c.177C>A (p.Gly59=) c.4498C>A c.4956C>A (p.Gly1652=) c.2278C>A c.4680C>A (p.Gly1560=) c.4392C>A (p.Gly1464=) c.1920C>A (p.Gly640=) | |
19 | g.35730005C>G | CA507072533 | KMT2B | c.4890C>G (p.Gly1630=) c.2497C>G (n.2497C>G) c.174C>G (p.Gly58=) c.382C>G n.109C>G c.177C>G (p.Gly59=) c.4498C>G c.4956C>G (p.Gly1652=) c.2278C>G c.4680C>G (p.Gly1560=) c.4392C>G (p.Gly1464=) c.1920C>G (p.Gly640=) | gnomAD v4 |
19 | g.35730005C>T | CA507072536 | KMT2B | c.4890C>T (p.Gly1630=) c.2497C>T (n.2497C>T) c.174C>T (p.Gly58=) c.382C>T n.109C>T c.177C>T (p.Gly59=) c.4498C>T c.4956C>T (p.Gly1652=) c.2278C>T c.4680C>T (p.Gly1560=) c.4392C>T (p.Gly1464=) c.1920C>T (p.Gly640=) | |
19 | g.35730006T>A | CA405418814 | KMT2B | c.4891T>A (p.Cys1631Ser) c.2498T>A (n.2498T>A) c.175T>A (p.Cys59Ser) c.383T>A n.110T>A c.178T>A (p.Cys60Ser) c.4499T>A c.4957T>A (p.Cys1653Ser) c.2279T>A c.4681T>A (p.Cys1561Ser) c.4393T>A (p.Cys1465Ser) c.1921T>A (p.Cys641Ser) | |
19 | g.35730006T>C | CA405418816 | KMT2B | c.4891T>C (p.Cys1631Arg) c.2498T>C (n.2498T>C) c.175T>C (p.Cys59Arg) c.383T>C n.110T>C c.178T>C (p.Cys60Arg) c.4499T>C c.4957T>C (p.Cys1653Arg) c.2279T>C c.4681T>C (p.Cys1561Arg) c.4393T>C (p.Cys1465Arg) c.1921T>C (p.Cys641Arg) | |
19 | g.35730006T>G | CA405418818 | KMT2B | c.4891T>G (p.Cys1631Gly) c.2498T>G (n.2498T>G) c.175T>G (p.Cys59Gly) c.383T>G n.110T>G c.178T>G (p.Cys60Gly) c.4499T>G c.4957T>G (p.Cys1653Gly) c.2279T>G c.4681T>G (p.Cys1561Gly) c.4393T>G (p.Cys1465Gly) c.1921T>G (p.Cys641Gly) | |
19 | g.35730007G>A | CA405418821 | KMT2B | c.4892G>A (p.Cys1631Tyr) c.2499G>A (n.2499G>A) c.176G>A (p.Cys59Tyr) c.384G>A n.111G>A c.179G>A (p.Cys60Tyr) c.4500G>A c.4958G>A (p.Cys1653Tyr) c.2280G>A c.4682G>A (p.Cys1561Tyr) c.4394G>A (p.Cys1465Tyr) c.1922G>A (p.Cys641Tyr) | COSMIC |
19 | g.35730007G>C | CA405418823 | KMT2B | c.4892G>C (p.Cys1631Ser) c.2499G>C (n.2499G>C) c.176G>C (p.Cys59Ser) c.384G>C n.111G>C c.179G>C (p.Cys60Ser) c.4500G>C c.4958G>C (p.Cys1653Ser) c.2280G>C c.4682G>C (p.Cys1561Ser) c.4394G>C (p.Cys1465Ser) c.1922G>C (p.Cys641Ser) | |
19 | g.35730007G>T | CA405418825 | KMT2B | c.4892G>T (p.Cys1631Phe) c.2499G>T (n.2499G>T) c.176G>T (p.Cys59Phe) c.384G>T n.111G>T c.179G>T (p.Cys60Phe) c.4500G>T c.4958G>T (p.Cys1653Phe) c.2280G>T c.4682G>T (p.Cys1561Phe) c.4394G>T (p.Cys1465Phe) c.1922G>T (p.Cys641Phe) | |
19 | g.35730008C>A | CA405418827 | KMT2B | c.4893C>A (p.Cys1631Ter) c.2500C>A (n.2500C>A) c.177C>A (p.Cys59Ter) c.385C>A n.112C>A c.180C>A (p.Cys60Ter) c.4501C>A c.4959C>A (p.Cys1653Ter) c.2281C>A c.4683C>A (p.Cys1561Ter) c.4395C>A (p.Cys1465Ter) c.1923C>A (p.Cys641Ter) | |
19 | g.35730008C>G | CA405418829 | KMT2B | c.4893C>G (p.Cys1631Trp) c.2500C>G (n.2500C>G) c.177C>G (p.Cys59Trp) c.385C>G n.112C>G c.180C>G (p.Cys60Trp) c.4501C>G c.4959C>G (p.Cys1653Trp) c.2281C>G c.4683C>G (p.Cys1561Trp) c.4395C>G (p.Cys1465Trp) c.1923C>G (p.Cys641Trp) | |
19 | g.35730008C>T | CA507072544 | KMT2B | c.4893C>T (p.Cys1631=) c.2500C>T (n.2500C>T) c.177C>T (p.Cys59=) c.385C>T n.112C>T c.180C>T (p.Cys60=) c.4501C>T c.4959C>T (p.Cys1653=) c.2281C>T c.4683C>T (p.Cys1561=) c.4395C>T (p.Cys1465=) c.1923C>T (p.Cys641=) | gnomAD v4 |
19 | g.35730009T>A | CA405418831 | KMT2B | c.4894T>A (p.Cys1632Ser) c.2501T>A (n.2501T>A) c.178T>A (p.Cys60Ser) c.386T>A n.113T>A c.181T>A (p.Cys61Ser) c.4502T>A c.4960T>A (p.Cys1654Ser) c.2282T>A c.4684T>A (p.Cys1562Ser) c.4396T>A (p.Cys1466Ser) c.1924T>A (p.Cys642Ser) | COSMIC |
19 | g.35730009T>C | CA405418832 | KMT2B | c.4894T>C (p.Cys1632Arg) c.2501T>C (n.2501T>C) c.178T>C (p.Cys60Arg) c.386T>C n.113T>C c.181T>C (p.Cys61Arg) c.4502T>C c.4960T>C (p.Cys1654Arg) c.2282T>C c.4684T>C (p.Cys1562Arg) c.4396T>C (p.Cys1466Arg) c.1924T>C (p.Cys642Arg) | ClinVar dbSNP |
19 | g.35730009T>G | CA405418834 | KMT2B | c.4894T>G (p.Cys1632Gly) c.2501T>G (n.2501T>G) c.178T>G (p.Cys60Gly) c.386T>G n.113T>G c.181T>G (p.Cys61Gly) c.4502T>G c.4960T>G (p.Cys1654Gly) c.2282T>G c.4684T>G (p.Cys1562Gly) c.4396T>G (p.Cys1466Gly) c.1924T>G (p.Cys642Gly) | |
19 | g.35730009T= | CA2333793087 | KMT2B | c.4894T= (p.Cys1632=) c.2501T= (n.2501T=) c.178T= (p.Cys60=) c.386T= n.113T= c.181T= (p.Cys61=) c.4502T= c.4960T= (p.Cys1654=) c.2282T= c.4684T= (p.Cys1562=) c.4396T= (p.Cys1466=) c.1924T= (p.Cys642=) | |
19 | g.35730010G>A | CA405418841 | KMT2B | c.4895G>A (p.Cys1632Tyr) c.2502G>A (n.2502G>A) c.179G>A (p.Cys60Tyr) c.387G>A n.114G>A c.182G>A (p.Cys61Tyr) c.4503G>A c.4961G>A (p.Cys1654Tyr) c.2283G>A c.4685G>A (p.Cys1562Tyr) c.4397G>A (p.Cys1466Tyr) c.1925G>A (p.Cys642Tyr) | |
19 | g.35730010G>C | CA405418839 | KMT2B | c.4895G>C (p.Cys1632Ser) c.2502G>C (n.2502G>C) c.179G>C (p.Cys60Ser) c.387G>C n.114G>C c.182G>C (p.Cys61Ser) c.4503G>C c.4961G>C (p.Cys1654Ser) c.2283G>C c.4685G>C (p.Cys1562Ser) c.4397G>C (p.Cys1466Ser) c.1925G>C (p.Cys642Ser) | |
19 | g.35730010G>T | CA405418837 | KMT2B | c.4895G>T (p.Cys1632Phe) c.2502G>T (n.2502G>T) c.179G>T (p.Cys60Phe) c.387G>T n.114G>T c.182G>T (p.Cys61Phe) c.4503G>T c.4961G>T (p.Cys1654Phe) c.2283G>T c.4685G>T (p.Cys1562Phe) c.4397G>T (p.Cys1466Phe) c.1925G>T (p.Cys642Phe) | |
19 | g.35730011C>A | CA405418843 | KMT2B | c.4896C>A (p.Cys1632Ter) c.2503C>A (n.2503C>A) c.180C>A (p.Cys60Ter) c.388C>A n.115C>A c.183C>A (p.Cys61Ter) c.4504C>A c.4962C>A (p.Cys1654Ter) c.2284C>A c.4686C>A (p.Cys1562Ter) c.4398C>A (p.Cys1466Ter) c.1926C>A (p.Cys642Ter) | |
19 | g.35730011C= | CA2333793088 | KMT2B | c.4896C= (p.Cys1632=) c.2503C= (n.2503C=) c.180C= (p.Cys60=) c.388C= n.115C= c.183C= (p.Cys61=) c.4504C= c.4962C= (p.Cys1654=) c.2284C= c.4686C= (p.Cys1562=) c.4398C= (p.Cys1466=) c.1926C= (p.Cys642=) | |
19 | g.35730011C>G | CA405418845 | KMT2B | c.4896C>G (p.Cys1632Trp) c.2503C>G (n.2503C>G) c.180C>G (p.Cys60Trp) c.388C>G n.115C>G c.183C>G (p.Cys61Trp) c.4504C>G c.4962C>G (p.Cys1654Trp) c.2284C>G c.4686C>G (p.Cys1562Trp) c.4398C>G (p.Cys1466Trp) c.1926C>G (p.Cys642Trp) | |
19 | g.35730011C>T | CA9385265 | KMT2B | c.4896C>T (p.Cys1632=) c.2503C>T (n.2503C>T) c.180C>T (p.Cys60=) c.388C>T n.115C>T c.183C>T (p.Cys61=) c.4504C>T c.4962C>T (p.Cys1654=) c.2284C>T c.4686C>T (p.Cys1562=) c.4398C>T (p.Cys1466=) c.1926C>T (p.Cys642=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.35730012C>A | CA405418849 | KMT2B | c.4897C>A (p.Leu1633Met) c.2504C>A (n.2504C>A) c.181C>A (p.Leu61Met) c.389C>A n.116C>A c.184C>A (p.Leu62Met) c.4505C>A c.4963C>A (p.Leu1655Met) c.2285C>A c.4687C>A (p.Leu1563Met) c.4399C>A (p.Leu1467Met) c.1927C>A (p.Leu643Met) | |
19 | g.35730012C= | CA2333793089 | KMT2B | c.4897C= (p.Leu1633=) c.2504C= (n.2504C=) c.181C= (p.Leu61=) c.389C= n.116C= c.184C= (p.Leu62=) c.4505C= c.4963C= (p.Leu1655=) c.2285C= c.4687C= (p.Leu1563=) c.4399C= (p.Leu1467=) c.1927C= (p.Leu643=) | |
19 | g.35730012C>G | CA405418851 | KMT2B | c.4897C>G (p.Leu1633Val) c.2504C>G (n.2504C>G) c.181C>G (p.Leu61Val) c.389C>G n.116C>G c.184C>G (p.Leu62Val) c.4505C>G c.4963C>G (p.Leu1655Val) c.2285C>G c.4687C>G (p.Leu1563Val) c.4399C>G (p.Leu1467Val) c.1927C>G (p.Leu643Val) | |
19 | g.35730012C>T | CA507072555 | KMT2B | c.4897C>T (p.Leu1633=) c.2504C>T (n.2504C>T) c.181C>T (p.Leu61=) c.389C>T n.116C>T c.184C>T (p.Leu62=) c.4505C>T c.4963C>T (p.Leu1655=) c.2285C>T c.4687C>T (p.Leu1563=) c.4399C>T (p.Leu1467=) c.1927C>T (p.Leu643=) | dbSNP gnomAD v2 |
19 | g.35730013T>A | CA405418854 | KMT2B | c.4898T>A (p.Leu1633Gln) c.2505T>A (n.2505T>A) c.182T>A (p.Leu61Gln) c.390T>A n.117T>A c.185T>A (p.Leu62Gln) c.4506T>A c.4964T>A (p.Leu1655Gln) c.2286T>A c.4688T>A (p.Leu1563Gln) c.4400T>A (p.Leu1467Gln) c.1928T>A (p.Leu643Gln) | COSMIC |
19 | g.35730013T>C | CA405418856 | KMT2B | c.4898T>C (p.Leu1633Pro) c.2505T>C (n.2505T>C) c.182T>C (p.Leu61Pro) c.390T>C n.117T>C c.185T>C (p.Leu62Pro) c.4506T>C c.4964T>C (p.Leu1655Pro) c.2286T>C c.4688T>C (p.Leu1563Pro) c.4400T>C (p.Leu1467Pro) c.1928T>C (p.Leu643Pro) | |
19 | g.35730013T>G | CA405418858 | KMT2B | c.4898T>G (p.Leu1633Arg) c.2505T>G (n.2505T>G) c.182T>G (p.Leu61Arg) c.390T>G n.117T>G c.185T>G (p.Leu62Arg) c.4506T>G c.4964T>G (p.Leu1655Arg) c.2286T>G c.4688T>G (p.Leu1563Arg) c.4400T>G (p.Leu1467Arg) c.1928T>G (p.Leu643Arg) | |
19 | g.35730014G>A | CA507072561 | KMT2B | c.4899G>A (p.Leu1633=) c.2506G>A (n.2506G>A) c.183G>A (p.Leu61=) c.391G>A n.118G>A c.186G>A (p.Leu62=) c.4507G>A c.4965G>A (p.Leu1655=) c.2287G>A c.4689G>A (p.Leu1563=) c.4401G>A (p.Leu1467=) c.1929G>A (p.Leu643=) | |
19 | g.35730014G>C | CA507072563 | KMT2B | c.4899G>C (p.Leu1633=) c.2506G>C (n.2506G>C) c.183G>C (p.Leu61=) c.391G>C n.118G>C c.186G>C (p.Leu62=) c.4507G>C c.4965G>C (p.Leu1655=) c.2287G>C c.4689G>C (p.Leu1563=) c.4401G>C (p.Leu1467=) c.1929G>C (p.Leu643=) | |
19 | g.35730014G>T | CA507072565 | KMT2B | c.4899G>T (p.Leu1633=) c.2506G>T (n.2506G>T) c.183G>T (p.Leu61=) c.391G>T n.118G>T c.186G>T (p.Leu62=) c.4507G>T c.4965G>T (p.Leu1655=) c.2287G>T c.4689G>T (p.Leu1563=) c.4401G>T (p.Leu1467=) c.1929G>T (p.Leu643=) | |
19 | g.35730014_35730017delinsGTCC | CA2333793090 | KMT2B | c.4899_4902delinsGTCC (p.Leu1633=) c.2506_2509delinsGTCC (n.2506_2509delinsGTCC) c.183_186delinsGTCC (p.Leu61=) c.391_394delinsGTCC n.118_121delinsGTCC c.186_189delinsGTCC (p.Leu62=) c.4507_4510delinsGTCC c.4965_4968delinsGTCC (p.Leu1655=) c.2287_2290delinsGTCC c.4689_4692delinsGTCC (p.Leu1563=) c.4401_4404delinsGTCC (p.Leu1467=) c.1929_1932delinsGTCC (p.Leu643=) | |
19 | g.35730015T>A | CA405418859 | KMT2B | c.4900T>A (p.Ser1634Thr) c.2507T>A (n.2507T>A) c.184T>A (p.Ser62Thr) c.392T>A n.119T>A c.187T>A (p.Ser63Thr) c.4508T>A c.4966T>A (p.Ser1656Thr) c.2288T>A c.4690T>A (p.Ser1564Thr) c.4402T>A (p.Ser1468Thr) c.1930T>A (p.Ser644Thr) | |
19 | g.35730015T>C | CA405418861 | KMT2B | c.4900T>C (p.Ser1634Pro) c.2507T>C (n.2507T>C) c.184T>C (p.Ser62Pro) c.392T>C n.119T>C c.187T>C (p.Ser63Pro) c.4508T>C c.4966T>C (p.Ser1656Pro) c.2288T>C c.4690T>C (p.Ser1564Pro) c.4402T>C (p.Ser1468Pro) c.1930T>C (p.Ser644Pro) | |
19 | g.35730015T>G | CA405418863 | KMT2B | c.4900T>G (p.Ser1634Ala) c.2507T>G (n.2507T>G) c.184T>G (p.Ser62Ala) c.392T>G n.119T>G c.187T>G (p.Ser63Ala) c.4508T>G c.4966T>G (p.Ser1656Ala) c.2288T>G c.4690T>G (p.Ser1564Ala) c.4402T>G (p.Ser1468Ala) c.1930T>G (p.Ser644Ala) | |
19 | g.35730019_35730021del | CA920100903 | KMT2B | c.4904_4906del (p.Ser1635del) c.2511_2513del (n.2511_2513del) c.188_190del (p.Ser63del) c.396_398del n.123_125del c.191_193del (p.Ser64del) c.4512_4514del c.4970_4972del (p.Ser1657del) c.2292_2294del c.4694_4696del (p.Ser1565del) c.4406_4408del (p.Ser1469del) c.1934_1936del (p.Ser645del) | dbSNP |
19 | g.35730016C>A | CA405418865 | KMT2B | c.4901C>A (p.Ser1634Tyr) c.2508C>A (n.2508C>A) c.185C>A (p.Ser62Tyr) c.393C>A n.120C>A c.188C>A (p.Ser63Tyr) c.4509C>A c.4967C>A (p.Ser1656Tyr) c.2289C>A c.4691C>A (p.Ser1564Tyr) c.4403C>A (p.Ser1468Tyr) c.1931C>A (p.Ser644Tyr) | |
19 | g.35730016C>G | CA405418868 | KMT2B | c.4901C>G (p.Ser1634Cys) c.2508C>G (n.2508C>G) c.185C>G (p.Ser62Cys) c.393C>G n.120C>G c.188C>G (p.Ser63Cys) c.4509C>G c.4967C>G (p.Ser1656Cys) c.2289C>G c.4691C>G (p.Ser1564Cys) c.4403C>G (p.Ser1468Cys) c.1931C>G (p.Ser644Cys) | |
19 | g.35730016C>T | CA405418870 | KMT2B | c.4901C>T (p.Ser1634Phe) c.2508C>T (n.2508C>T) c.185C>T (p.Ser62Phe) c.393C>T n.120C>T c.188C>T (p.Ser63Phe) c.4509C>T c.4967C>T (p.Ser1656Phe) c.2289C>T c.4691C>T (p.Ser1564Phe) c.4403C>T (p.Ser1468Phe) c.1931C>T (p.Ser644Phe) | gnomAD v4 |
19 | g.35730017C>A | CA507072572 | KMT2B | c.4902C>A (p.Ser1634=) c.2509C>A (n.2509C>A) c.186C>A (p.Ser62=) c.394C>A n.121C>A c.189C>A (p.Ser63=) c.4510C>A c.4968C>A (p.Ser1656=) c.2290C>A c.4692C>A (p.Ser1564=) c.4404C>A (p.Ser1468=) c.1932C>A (p.Ser644=) | |
19 | g.35730017C= | CA2333793091 | KMT2B | c.4902C= (p.Ser1634=) c.2509C= (n.2509C=) c.186C= (p.Ser62=) c.394C= n.121C= c.189C= (p.Ser63=) c.4510C= c.4968C= (p.Ser1656=) c.2290C= c.4692C= (p.Ser1564=) c.4404C= (p.Ser1468=) c.1932C= (p.Ser644=) | |
19 | g.35730017C>G | CA9385267 | KMT2B | c.4902C>G (p.Ser1634=) c.2509C>G (n.2509C>G) c.186C>G (p.Ser62=) c.394C>G n.121C>G c.189C>G (p.Ser63=) c.4510C>G c.4968C>G (p.Ser1656=) c.2290C>G c.4692C>G (p.Ser1564=) c.4404C>G (p.Ser1468=) c.1932C>G (p.Ser644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730017C>T | CA9385266 | KMT2B | c.4902C>T (p.Ser1634=) c.2509C>T (n.2509C>T) c.186C>T (p.Ser62=) c.394C>T n.121C>T c.189C>T (p.Ser63=) c.4510C>T c.4968C>T (p.Ser1656=) c.2290C>T c.4692C>T (p.Ser1564=) c.4404C>T (p.Ser1468=) c.1932C>T (p.Ser644=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730018T>A | CA405418877 | KMT2B | c.4903T>A (p.Ser1635Thr) c.2510T>A (n.2510T>A) c.187T>A (p.Ser63Thr) c.395T>A n.122T>A c.190T>A (p.Ser64Thr) c.4511T>A c.4969T>A (p.Ser1657Thr) c.2291T>A c.4693T>A (p.Ser1565Thr) c.4405T>A (p.Ser1469Thr) c.1933T>A (p.Ser645Thr) | |
19 | g.35730018T>C | CA405418879 | KMT2B | c.4903T>C (p.Ser1635Pro) c.2510T>C (n.2510T>C) c.187T>C (p.Ser63Pro) c.395T>C n.122T>C c.190T>C (p.Ser64Pro) c.4511T>C c.4969T>C (p.Ser1657Pro) c.2291T>C c.4693T>C (p.Ser1565Pro) c.4405T>C (p.Ser1469Pro) c.1933T>C (p.Ser645Pro) | |
19 | g.35730018T>G | CA405418881 | KMT2B | c.4903T>G (p.Ser1635Ala) c.2510T>G (n.2510T>G) c.187T>G (p.Ser63Ala) c.395T>G n.122T>G c.190T>G (p.Ser64Ala) c.4511T>G c.4969T>G (p.Ser1657Ala) c.2291T>G c.4693T>G (p.Ser1565Ala) c.4405T>G (p.Ser1469Ala) c.1933T>G (p.Ser645Ala) | |
19 | g.35730019C>A | CA405418884 | KMT2B | c.4904C>A (p.Ser1635Tyr) c.2511C>A (n.2511C>A) c.188C>A (p.Ser63Tyr) c.396C>A n.123C>A c.191C>A (p.Ser64Tyr) c.4512C>A c.4970C>A (p.Ser1657Tyr) c.2292C>A c.4694C>A (p.Ser1565Tyr) c.4406C>A (p.Ser1469Tyr) c.1934C>A (p.Ser645Tyr) | |
19 | g.35730019C>G | CA405418886 | KMT2B | c.4904C>G (p.Ser1635Cys) c.2511C>G (n.2511C>G) c.188C>G (p.Ser63Cys) c.396C>G n.123C>G c.191C>G (p.Ser64Cys) c.4512C>G c.4970C>G (p.Ser1657Cys) c.2292C>G c.4694C>G (p.Ser1565Cys) c.4406C>G (p.Ser1469Cys) c.1934C>G (p.Ser645Cys) | |
19 | g.35730019C>T | CA405418888 | KMT2B | c.4904C>T (p.Ser1635Phe) c.2511C>T (n.2511C>T) c.188C>T (p.Ser63Phe) c.396C>T n.123C>T c.191C>T (p.Ser64Phe) c.4512C>T c.4970C>T (p.Ser1657Phe) c.2292C>T c.4694C>T (p.Ser1565Phe) c.4406C>T (p.Ser1469Phe) c.1934C>T (p.Ser645Phe) | |
19 | g.35730020C>A | CA507072576 | KMT2B | c.4905C>A (p.Ser1635=) c.2512C>A (n.2512C>A) c.189C>A (p.Ser63=) c.397C>A n.124C>A c.192C>A (p.Ser64=) c.4513C>A c.4971C>A (p.Ser1657=) c.2293C>A c.4695C>A (p.Ser1565=) c.4407C>A (p.Ser1469=) c.1935C>A (p.Ser645=) | |
19 | g.35730020C= | CA2333793092 | KMT2B | c.4905C= (p.Ser1635=) c.2512C= (n.2512C=) c.189C= (p.Ser63=) c.397C= n.124C= c.192C= (p.Ser64=) c.4513C= c.4971C= (p.Ser1657=) c.2293C= c.4695C= (p.Ser1565=) c.4407C= (p.Ser1469=) c.1935C= (p.Ser645=) | |
19 | g.35730020C>G | CA307792946 | KMT2B | c.4905C>G (p.Ser1635=) c.2512C>G (n.2512C>G) c.189C>G (p.Ser63=) c.397C>G n.124C>G c.192C>G (p.Ser64=) c.4513C>G c.4971C>G (p.Ser1657=) c.2293C>G c.4695C>G (p.Ser1565=) c.4407C>G (p.Ser1469=) c.1935C>G (p.Ser645=) | dbSNP |
19 | g.35730020C>T | CA507072577 | KMT2B | c.4905C>T (p.Ser1635=) c.2512C>T (n.2512C>T) c.189C>T (p.Ser63=) c.397C>T n.124C>T c.192C>T (p.Ser64=) c.4513C>T c.4971C>T (p.Ser1657=) c.2293C>T c.4695C>T (p.Ser1565=) c.4407C>T (p.Ser1469=) c.1935C>T (p.Ser645=) | |
19 | g.35730021T>A | CA405418891 | KMT2B | c.4906T>A (p.Cys1636Ser) c.2513T>A (n.2513T>A) c.190T>A (p.Cys64Ser) c.398T>A n.125T>A c.193T>A (p.Cys65Ser) c.4514T>A c.4972T>A (p.Cys1658Ser) c.2294T>A c.4696T>A (p.Cys1566Ser) c.4408T>A (p.Cys1470Ser) c.1936T>A (p.Cys646Ser) | |
19 | g.35730021T>C | CA405418893 | KMT2B | c.4906T>C (p.Cys1636Arg) c.2513T>C (n.2513T>C) c.190T>C (p.Cys64Arg) c.398T>C n.125T>C c.193T>C (p.Cys65Arg) c.4514T>C c.4972T>C (p.Cys1658Arg) c.2294T>C c.4696T>C (p.Cys1566Arg) c.4408T>C (p.Cys1470Arg) c.1936T>C (p.Cys646Arg) | |
19 | g.35730021T>G | CA405418895 | KMT2B | c.4906T>G (p.Cys1636Gly) c.2513T>G (n.2513T>G) c.190T>G (p.Cys64Gly) c.398T>G n.125T>G c.193T>G (p.Cys65Gly) c.4514T>G c.4972T>G (p.Cys1658Gly) c.2294T>G c.4696T>G (p.Cys1566Gly) c.4408T>G (p.Cys1470Gly) c.1936T>G (p.Cys646Gly) | |
19 | g.35730022_35730023insTGTGTG | CA2333793093 | KMT2B | c.4907_4908insTGTGTG (p.Cys1636_Leu1637insValCys) c.2514_2515insTGTGTG (n.2514_2515insTGTGTG) c.191_192insTGTGTG (p.Cys64_Leu65insValCys) c.399_400insTGTGTG n.126_127insTGTGTG c.194_195insTGTGTG (p.Cys65_Leu66insValCys) c.4515_4516insTGTGTG c.4973_4974insTGTGTG (p.Cys1658_Leu1659insValCys) c.2295_2296insTGTGTG c.4697_4698insTGTGTG (p.Cys1566_Leu1567insValCys) c.4409_4410insTGTGTG (p.Cys1470_Leu1471insValCys) c.1937_1938insTGTGTG (p.Cys646_Leu647insValCys) | ClinVar dbSNP |
19 | g.35730022G>A | CA405418897 | KMT2B | c.4907G>A (p.Cys1636Tyr) c.2514G>A (n.2514G>A) c.191G>A (p.Cys64Tyr) c.399G>A n.126G>A c.194G>A (p.Cys65Tyr) c.4515G>A c.4973G>A (p.Cys1658Tyr) c.2295G>A c.4697G>A (p.Cys1566Tyr) c.4409G>A (p.Cys1470Tyr) c.1937G>A (p.Cys646Tyr) | |
19 | g.35730022G>C | CA405418898 | KMT2B | c.4907G>C (p.Cys1636Ser) c.2514G>C (n.2514G>C) c.191G>C (p.Cys64Ser) c.399G>C n.126G>C c.194G>C (p.Cys65Ser) c.4515G>C c.4973G>C (p.Cys1658Ser) c.2295G>C c.4697G>C (p.Cys1566Ser) c.4409G>C (p.Cys1470Ser) c.1937G>C (p.Cys646Ser) | |
19 | g.35730022G>T | CA405418899 | KMT2B | c.4907G>T (p.Cys1636Phe) c.2514G>T (n.2514G>T) c.191G>T (p.Cys64Phe) c.399G>T n.126G>T c.194G>T (p.Cys65Phe) c.4515G>T c.4973G>T (p.Cys1658Phe) c.2295G>T c.4697G>T (p.Cys1566Phe) c.4409G>T (p.Cys1470Phe) c.1937G>T (p.Cys646Phe) | |
19 | g.35730023C>A | CA405418900 | KMT2B | c.4908C>A (p.Cys1636Ter) c.2515C>A (n.2515C>A) c.192C>A (p.Cys64Ter) c.400C>A n.127C>A c.195C>A (p.Cys65Ter) c.4516C>A c.4974C>A (p.Cys1658Ter) c.2296C>A c.4698C>A (p.Cys1566Ter) c.4410C>A (p.Cys1470Ter) c.1938C>A (p.Cys646Ter) | |
19 | g.35730023C= | CA2333793094 | KMT2B | c.4908C= (p.Cys1636=) c.2515C= (n.2515C=) c.192C= (p.Cys64=) c.400C= n.127C= c.195C= (p.Cys65=) c.4516C= c.4974C= (p.Cys1658=) c.2296C= c.4698C= (p.Cys1566=) c.4410C= (p.Cys1470=) c.1938C= (p.Cys646=) | |
19 | g.35730023C>G | CA405418901 | KMT2B | c.4908C>G (p.Cys1636Trp) c.2515C>G (n.2515C>G) c.192C>G (p.Cys64Trp) c.400C>G n.127C>G c.195C>G (p.Cys65Trp) c.4516C>G c.4974C>G (p.Cys1658Trp) c.2296C>G c.4698C>G (p.Cys1566Trp) c.4410C>G (p.Cys1470Trp) c.1938C>G (p.Cys646Trp) | |
19 | g.35730023C>T | CA9385268 | KMT2B | c.4908C>T (p.Cys1636=) c.2515C>T (n.2515C>T) c.192C>T (p.Cys64=) c.400C>T n.127C>T c.195C>T (p.Cys65=) c.4516C>T c.4974C>T (p.Cys1658=) c.2296C>T c.4698C>T (p.Cys1566=) c.4410C>T (p.Cys1470=) c.1938C>T (p.Cys646=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730024C>A | CA405418902 | KMT2B | c.4909C>A (p.Leu1637Ile) c.2516C>A (n.2516C>A) c.193C>A (p.Leu65Ile) c.401C>A n.128C>A c.196C>A (p.Leu66Ile) c.4517C>A c.4975C>A (p.Leu1659Ile) c.2297C>A c.4699C>A (p.Leu1567Ile) c.4411C>A (p.Leu1471Ile) c.1939C>A (p.Leu647Ile) | |
19 | g.35730024C>G | CA405418904 | KMT2B | c.4909C>G (p.Leu1637Val) c.2516C>G (n.2516C>G) c.193C>G (p.Leu65Val) c.401C>G n.128C>G c.196C>G (p.Leu66Val) c.4517C>G c.4975C>G (p.Leu1659Val) c.2297C>G c.4699C>G (p.Leu1567Val) c.4411C>G (p.Leu1471Val) c.1939C>G (p.Leu647Val) | gnomAD v4 |
19 | g.35730024C>T | CA405418903 | KMT2B | c.4909C>T (p.Leu1637Phe) c.2516C>T (n.2516C>T) c.193C>T (p.Leu65Phe) c.401C>T n.128C>T c.196C>T (p.Leu66Phe) c.4517C>T c.4975C>T (p.Leu1659Phe) c.2297C>T c.4699C>T (p.Leu1567Phe) c.4411C>T (p.Leu1471Phe) c.1939C>T (p.Leu647Phe) | |
19 | g.35730025T>A | CA405418905 | KMT2B | c.4910T>A (p.Leu1637His) c.2517T>A (n.2517T>A) c.194T>A (p.Leu65His) c.402T>A n.129T>A c.197T>A (p.Leu66His) c.4518T>A c.4976T>A (p.Leu1659His) c.2298T>A c.4700T>A (p.Leu1567His) c.4412T>A (p.Leu1471His) c.1940T>A (p.Leu647His) | |
19 | g.35730025T>C | CA405418907 | KMT2B | c.4910T>C (p.Leu1637Pro) c.2517T>C (n.2517T>C) c.194T>C (p.Leu65Pro) c.402T>C n.129T>C c.197T>C (p.Leu66Pro) c.4518T>C c.4976T>C (p.Leu1659Pro) c.2298T>C c.4700T>C (p.Leu1567Pro) c.4412T>C (p.Leu1471Pro) c.1940T>C (p.Leu647Pro) | |
19 | g.35730025T>G | CA405418906 | KMT2B | c.4910T>G (p.Leu1637Arg) c.2517T>G (n.2517T>G) c.194T>G (p.Leu65Arg) c.402T>G n.129T>G c.197T>G (p.Leu66Arg) c.4518T>G c.4976T>G (p.Leu1659Arg) c.2298T>G c.4700T>G (p.Leu1567Arg) c.4412T>G (p.Leu1471Arg) c.1940T>G (p.Leu647Arg) | |
19 | g.35730026C>A | CA507072584 | KMT2B | c.4911C>A (p.Leu1637=) c.2518C>A (n.2518C>A) c.195C>A (p.Leu65=) c.403C>A n.130C>A c.198C>A (p.Leu66=) c.4519C>A c.4977C>A (p.Leu1659=) c.2299C>A c.4701C>A (p.Leu1567=) c.4413C>A (p.Leu1471=) c.1941C>A (p.Leu647=) | |
19 | g.35730026C>G | CA507072585 | KMT2B | c.4911C>G (p.Leu1637=) c.2518C>G (n.2518C>G) c.195C>G (p.Leu65=) c.403C>G n.130C>G c.198C>G (p.Leu66=) c.4519C>G c.4977C>G (p.Leu1659=) c.2299C>G c.4701C>G (p.Leu1567=) c.4413C>G (p.Leu1471=) c.1941C>G (p.Leu647=) | |
19 | g.35730026C>T | CA507072586 | KMT2B | c.4911C>T (p.Leu1637=) c.2518C>T (n.2518C>T) c.195C>T (p.Leu65=) c.403C>T n.130C>T c.198C>T (p.Leu66=) c.4519C>T c.4977C>T (p.Leu1659=) c.2299C>T c.4701C>T (p.Leu1567=) c.4413C>T (p.Leu1471=) c.1941C>T (p.Leu647=) | |
19 | g.35730027A= | CA2333793095 | KMT2B | c.4912A= (p.Ser1638=) c.2519A= (n.2519A=) c.196A= (p.Ser66=) c.404A= n.131A= c.199A= (p.Ser67=) c.4520A= c.4978A= (p.Ser1660=) c.2300A= c.4702A= (p.Ser1568=) c.4414A= (p.Ser1472=) c.1942A= (p.Ser648=) | |
19 | g.35730027A>C | CA405418908 | KMT2B | c.4912A>C (p.Ser1638Arg) c.2519A>C (n.2519A>C) c.196A>C (p.Ser66Arg) c.404A>C n.131A>C c.199A>C (p.Ser67Arg) c.4520A>C c.4978A>C (p.Ser1660Arg) c.2300A>C c.4702A>C (p.Ser1568Arg) c.4414A>C (p.Ser1472Arg) c.1942A>C (p.Ser648Arg) | |
19 | g.35730027A>G | CA307792958 | KMT2B | c.4912A>G (p.Ser1638Gly) c.2519A>G (n.2519A>G) c.196A>G (p.Ser66Gly) c.404A>G n.131A>G c.199A>G (p.Ser67Gly) c.4520A>G c.4978A>G (p.Ser1660Gly) c.2300A>G c.4702A>G (p.Ser1568Gly) c.4414A>G (p.Ser1472Gly) c.1942A>G (p.Ser648Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.35730027A>T | CA405418909 | KMT2B | c.4912A>T (p.Ser1638Cys) c.2519A>T (n.2519A>T) c.196A>T (p.Ser66Cys) c.404A>T n.131A>T c.199A>T (p.Ser67Cys) c.4520A>T c.4978A>T (p.Ser1660Cys) c.2300A>T c.4702A>T (p.Ser1568Cys) c.4414A>T (p.Ser1472Cys) c.1942A>T (p.Ser648Cys) | |
19 | g.35730028G>A | CA405418910 | KMT2B | c.4913G>A (p.Ser1638Asn) c.2520G>A (n.2520G>A) c.197G>A (p.Ser66Asn) c.405G>A n.132G>A c.200G>A (p.Ser67Asn) c.4521G>A c.4979G>A (p.Ser1660Asn) c.2301G>A c.4703G>A (p.Ser1568Asn) c.4415G>A (p.Ser1472Asn) c.1943G>A (p.Ser648Asn) | |
19 | g.35730028G>C | CA405418912 | KMT2B | c.4913G>C (p.Ser1638Thr) c.2520G>C (n.2520G>C) c.197G>C (p.Ser66Thr) c.405G>C n.132G>C c.200G>C (p.Ser67Thr) c.4521G>C c.4979G>C (p.Ser1660Thr) c.2301G>C c.4703G>C (p.Ser1568Thr) c.4415G>C (p.Ser1472Thr) c.1943G>C (p.Ser648Thr) | |
19 | g.35730028G>T | CA405418911 | KMT2B | c.4913G>T (p.Ser1638Ile) c.2520G>T (n.2520G>T) c.197G>T (p.Ser66Ile) c.405G>T n.132G>T c.200G>T (p.Ser67Ile) c.4521G>T c.4979G>T (p.Ser1660Ile) c.2301G>T c.4703G>T (p.Ser1568Ile) c.4415G>T (p.Ser1472Ile) c.1943G>T (p.Ser648Ile) | |
19 | g.35730029C>A | CA405418913 | KMT2B | c.4914C>A (p.Ser1638Arg) c.2521C>A (n.2521C>A) c.198C>A (p.Ser66Arg) c.406C>A n.133C>A c.201C>A (p.Ser67Arg) c.4522C>A c.4980C>A (p.Ser1660Arg) c.2302C>A c.4704C>A (p.Ser1568Arg) c.4416C>A (p.Ser1472Arg) c.1944C>A (p.Ser648Arg) | |
19 | g.35730029C>G | CA405418914 | KMT2B | c.4914C>G (p.Ser1638Arg) c.2521C>G (n.2521C>G) c.198C>G (p.Ser66Arg) c.406C>G n.133C>G c.201C>G (p.Ser67Arg) c.4522C>G c.4980C>G (p.Ser1660Arg) c.2302C>G c.4704C>G (p.Ser1568Arg) c.4416C>G (p.Ser1472Arg) c.1944C>G (p.Ser648Arg) | |
19 | g.35730029C>T | CA507072595 | KMT2B | c.4914C>T (p.Ser1638=) c.2521C>T (n.2521C>T) c.198C>T (p.Ser66=) c.406C>T n.133C>T c.201C>T (p.Ser67=) c.4522C>T c.4980C>T (p.Ser1660=) c.2302C>T c.4704C>T (p.Ser1568=) c.4416C>T (p.Ser1472=) c.1944C>T (p.Ser648=) | gnomAD v4 |
19 | g.35730030A>C | CA405418915 | KMT2B | c.4915A>C (p.Asn1639His) c.2522A>C (n.2522A>C) c.199A>C (p.Asn67His) c.407A>C n.134A>C c.202A>C (p.Asn68His) c.4523A>C c.4981A>C (p.Asn1661His) c.2303A>C c.4705A>C (p.Asn1569His) c.4417A>C (p.Asn1473His) c.1945A>C (p.Asn649His) | |
19 | g.35730030A>G | CA405418919 | KMT2B | c.4915A>G (p.Asn1639Asp) c.2522A>G (n.2522A>G) c.199A>G (p.Asn67Asp) c.407A>G n.134A>G c.202A>G (p.Asn68Asp) c.4523A>G c.4981A>G (p.Asn1661Asp) c.2303A>G c.4705A>G (p.Asn1569Asp) c.4417A>G (p.Asn1473Asp) c.1945A>G (p.Asn649Asp) | |
19 | g.35730030A>T | CA405418917 | KMT2B | c.4915A>T (p.Asn1639Tyr) c.2522A>T (n.2522A>T) c.199A>T (p.Asn67Tyr) c.407A>T n.134A>T c.202A>T (p.Asn68Tyr) c.4523A>T c.4981A>T (p.Asn1661Tyr) c.2303A>T c.4705A>T (p.Asn1569Tyr) c.4417A>T (p.Asn1473Tyr) c.1945A>T (p.Asn649Tyr) | |
19 | g.35730031A>C | CA405418923 | KMT2B | c.4916A>C (p.Asn1639Thr) c.2523A>C (n.2523A>C) c.200A>C (p.Asn67Thr) c.408A>C n.135A>C c.203A>C (p.Asn68Thr) c.4524A>C c.4982A>C (p.Asn1661Thr) c.2304A>C c.4706A>C (p.Asn1569Thr) c.4418A>C (p.Asn1473Thr) c.1946A>C (p.Asn649Thr) | |
19 | g.35730031A>G | CA405418927 | KMT2B | c.4916A>G (p.Asn1639Ser) c.2523A>G (n.2523A>G) c.200A>G (p.Asn67Ser) c.408A>G n.135A>G c.203A>G (p.Asn68Ser) c.4524A>G c.4982A>G (p.Asn1661Ser) c.2304A>G c.4706A>G (p.Asn1569Ser) c.4418A>G (p.Asn1473Ser) c.1946A>G (p.Asn649Ser) | |
19 | g.35730031A>T | CA405418925 | KMT2B | c.4916A>T (p.Asn1639Ile) c.2523A>T (n.2523A>T) c.200A>T (p.Asn67Ile) c.408A>T n.135A>T c.203A>T (p.Asn68Ile) c.4524A>T c.4982A>T (p.Asn1661Ile) c.2304A>T c.4706A>T (p.Asn1569Ile) c.4418A>T (p.Asn1473Ile) c.1946A>T (p.Asn649Ile) | |
19 | g.35730032C>A | CA405418929 | KMT2B | c.4917C>A (p.Asn1639Lys) c.2524C>A (n.2524C>A) c.201C>A (p.Asn67Lys) c.409C>A n.136C>A c.204C>A (p.Asn68Lys) c.4525C>A c.4983C>A (p.Asn1661Lys) c.2305C>A c.4707C>A (p.Asn1569Lys) c.4419C>A (p.Asn1473Lys) c.1947C>A (p.Asn649Lys) | |
19 | g.35730032C= | CA2333793096 | KMT2B | c.4917C= (p.Asn1639=) c.2524C= (n.2524C=) c.201C= (p.Asn67=) c.409C= n.136C= c.204C= (p.Asn68=) c.4525C= c.4983C= (p.Asn1661=) c.2305C= c.4707C= (p.Asn1569=) c.4419C= (p.Asn1473=) c.1947C= (p.Asn649=) | |
19 | g.35730032C>G | CA405418930 | KMT2B | c.4917C>G (p.Asn1639Lys) c.2524C>G (n.2524C>G) c.201C>G (p.Asn67Lys) c.409C>G n.136C>G c.204C>G (p.Asn68Lys) c.4525C>G c.4983C>G (p.Asn1661Lys) c.2305C>G c.4707C>G (p.Asn1569Lys) c.4419C>G (p.Asn1473Lys) c.1947C>G (p.Asn649Lys) | |
19 | g.35730032C>T | CA507072600 | KMT2B | c.4917C>T (p.Asn1639=) c.2524C>T (n.2524C>T) c.201C>T (p.Asn67=) c.409C>T n.136C>T c.204C>T (p.Asn68=) c.4525C>T c.4983C>T (p.Asn1661=) c.2305C>T c.4707C>T (p.Asn1569=) c.4419C>T (p.Asn1473=) c.1947C>T (p.Asn649=) | dbSNP gnomAD v4 |
19 | g.35730033T>A | CA405418933 | KMT2B | c.4918T>A (p.Phe1640Ile) c.2525T>A (n.2525T>A) c.202T>A (p.Phe68Ile) c.410T>A n.137T>A c.205T>A (p.Phe69Ile) c.4526T>A c.4984T>A (p.Phe1662Ile) c.2306T>A c.4708T>A (p.Phe1570Ile) c.4420T>A (p.Phe1474Ile) c.1948T>A (p.Phe650Ile) | |
19 | g.35730033T>C | CA405418935 | KMT2B | c.4918T>C (p.Phe1640Leu) c.2525T>C (n.2525T>C) c.202T>C (p.Phe68Leu) c.410T>C n.137T>C c.205T>C (p.Phe69Leu) c.4526T>C c.4984T>C (p.Phe1662Leu) c.2306T>C c.4708T>C (p.Phe1570Leu) c.4420T>C (p.Phe1474Leu) c.1948T>C (p.Phe650Leu) | |
19 | g.35730033T>G | CA405418937 | KMT2B | c.4918T>G (p.Phe1640Val) c.2525T>G (n.2525T>G) c.202T>G (p.Phe68Val) c.410T>G n.137T>G c.205T>G (p.Phe69Val) c.4526T>G c.4984T>G (p.Phe1662Val) c.2306T>G c.4708T>G (p.Phe1570Val) c.4420T>G (p.Phe1474Val) c.1948T>G (p.Phe650Val) | COSMIC |
19 | g.35730034T>A | CA405418940 | KMT2B | c.4919T>A (p.Phe1640Tyr) c.2526T>A (n.2526T>A) c.203T>A (p.Phe68Tyr) c.411T>A n.138T>A c.206T>A (p.Phe69Tyr) c.4527T>A c.4985T>A (p.Phe1662Tyr) c.2307T>A c.4709T>A (p.Phe1570Tyr) c.4421T>A (p.Phe1474Tyr) c.1949T>A (p.Phe650Tyr) | |
19 | g.35730034T>C | CA405418942 | KMT2B | c.4919T>C (p.Phe1640Ser) c.2526T>C (n.2526T>C) c.203T>C (p.Phe68Ser) c.411T>C n.138T>C c.206T>C (p.Phe69Ser) c.4527T>C c.4985T>C (p.Phe1662Ser) c.2307T>C c.4709T>C (p.Phe1570Ser) c.4421T>C (p.Phe1474Ser) c.1949T>C (p.Phe650Ser) | |
19 | g.35730034T>G | CA405418945 | KMT2B | c.4919T>G (p.Phe1640Cys) c.2526T>G (n.2526T>G) c.203T>G (p.Phe68Cys) c.411T>G n.138T>G c.206T>G (p.Phe69Cys) c.4527T>G c.4985T>G (p.Phe1662Cys) c.2307T>G c.4709T>G (p.Phe1570Cys) c.4421T>G (p.Phe1474Cys) c.1949T>G (p.Phe650Cys) | |
19 | g.35730035C>A | CA405418948 | KMT2B | c.4920C>A (p.Phe1640Leu) c.2527C>A (n.2527C>A) c.204C>A (p.Phe68Leu) c.412C>A n.139C>A c.207C>A (p.Phe69Leu) c.4528C>A c.4986C>A (p.Phe1662Leu) c.2308C>A c.4710C>A (p.Phe1570Leu) c.4422C>A (p.Phe1474Leu) c.1950C>A (p.Phe650Leu) | ClinVar dbSNP |
19 | g.35730035C= | CA2333793097 | KMT2B | c.4920C= (p.Phe1640=) c.2527C= (n.2527C=) c.204C= (p.Phe68=) c.412C= n.139C= c.207C= (p.Phe69=) c.4528C= c.4986C= (p.Phe1662=) c.2308C= c.4710C= (p.Phe1570=) c.4422C= (p.Phe1474=) c.1950C= (p.Phe650=) | |
19 | g.35730035C>G | CA405418950 | KMT2B | c.4920C>G (p.Phe1640Leu) c.2527C>G (n.2527C>G) c.204C>G (p.Phe68Leu) c.412C>G n.139C>G c.207C>G (p.Phe69Leu) c.4528C>G c.4986C>G (p.Phe1662Leu) c.2308C>G c.4710C>G (p.Phe1570Leu) c.4422C>G (p.Phe1474Leu) c.1950C>G (p.Phe650Leu) | |
19 | g.35730035C>T | CA9385269 | KMT2B | c.4920C>T (p.Phe1640=) c.2527C>T (n.2527C>T) c.204C>T (p.Phe68=) c.412C>T n.139C>T c.207C>T (p.Phe69=) c.4528C>T c.4986C>T (p.Phe1662=) c.2308C>T c.4710C>T (p.Phe1570=) c.4422C>T (p.Phe1474=) c.1950C>T (p.Phe650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730036C>A | CA405418954 | KMT2B | c.4921C>A (p.His1641Asn) c.2528C>A (n.2528C>A) c.205C>A (p.His69Asn) c.413C>A n.140C>A c.208C>A (p.His70Asn) c.4529C>A c.4987C>A (p.His1663Asn) c.2309C>A c.4711C>A (p.His1571Asn) c.4423C>A (p.His1475Asn) c.1951C>A (p.His651Asn) | |
19 | g.35730036C>G | CA405418959 | KMT2B | c.4921C>G (p.His1641Asp) c.2528C>G (n.2528C>G) c.205C>G (p.His69Asp) c.413C>G n.140C>G c.208C>G (p.His70Asp) c.4529C>G c.4987C>G (p.His1663Asp) c.2309C>G c.4711C>G (p.His1571Asp) c.4423C>G (p.His1475Asp) c.1951C>G (p.His651Asp) | |
19 | g.35730036C>T | CA405418956 | KMT2B | c.4921C>T (p.His1641Tyr) c.2528C>T (n.2528C>T) c.205C>T (p.His69Tyr) c.413C>T n.140C>T c.208C>T (p.His70Tyr) c.4529C>T c.4987C>T (p.His1663Tyr) c.2309C>T c.4711C>T (p.His1571Tyr) c.4423C>T (p.His1475Tyr) c.1951C>T (p.His651Tyr) | |
19 | g.35730037A= | CA2333793098 | KMT2B | c.4922A= (p.His1641=) c.2529A= (n.2529A=) c.206A= (p.His69=) c.414A= n.141A= c.209A= (p.His70=) c.4530A= c.4988A= (p.His1663=) c.2310A= c.4712A= (p.His1571=) c.4424A= (p.His1475=) c.1952A= (p.His651=) | |
19 | g.35730037A>C | CA405418962 | KMT2B | c.4922A>C (p.His1641Pro) c.2529A>C (n.2529A>C) c.206A>C (p.His69Pro) c.414A>C n.141A>C c.209A>C (p.His70Pro) c.4530A>C c.4988A>C (p.His1663Pro) c.2310A>C c.4712A>C (p.His1571Pro) c.4424A>C (p.His1475Pro) c.1952A>C (p.His651Pro) | ClinVar dbSNP |
19 | g.35730037A>G | CA405418964 | KMT2B | c.4922A>G (p.His1641Arg) c.2529A>G (n.2529A>G) c.206A>G (p.His69Arg) c.414A>G n.141A>G c.209A>G (p.His70Arg) c.4530A>G c.4988A>G (p.His1663Arg) c.2310A>G c.4712A>G (p.His1571Arg) c.4424A>G (p.His1475Arg) c.1952A>G (p.His651Arg) | |
19 | g.35730037A>T | CA405418966 | KMT2B | c.4922A>T (p.His1641Leu) c.2529A>T (n.2529A>T) c.206A>T (p.His69Leu) c.414A>T n.141A>T c.209A>T (p.His70Leu) c.4530A>T c.4988A>T (p.His1663Leu) c.2310A>T c.4712A>T (p.His1571Leu) c.4424A>T (p.His1475Leu) c.1952A>T (p.His651Leu) | |
19 | g.35730038C>A | CA405418969 | KMT2B | c.4923C>A (p.His1641Gln) c.2530C>A (n.2530C>A) c.207C>A (p.His69Gln) c.415C>A n.142C>A c.210C>A (p.His70Gln) c.4531C>A c.4989C>A (p.His1663Gln) c.2311C>A c.4713C>A (p.His1571Gln) c.4425C>A (p.His1475Gln) c.1953C>A (p.His651Gln) | |
19 | g.35730038C>G | CA405418971 | KMT2B | c.4923C>G (p.His1641Gln) c.2530C>G (n.2530C>G) c.207C>G (p.His69Gln) c.415C>G n.142C>G c.210C>G (p.His70Gln) c.4531C>G c.4989C>G (p.His1663Gln) c.2311C>G c.4713C>G (p.His1571Gln) c.4425C>G (p.His1475Gln) c.1953C>G (p.His651Gln) | |
19 | g.35730038C>T | CA507072612 | KMT2B | c.4923C>T (p.His1641=) c.2530C>T (n.2530C>T) c.207C>T (p.His69=) c.415C>T n.142C>T c.210C>T (p.His70=) c.4531C>T c.4989C>T (p.His1663=) c.2311C>T c.4713C>T (p.His1571=) c.4425C>T (p.His1475=) c.1953C>T (p.His651=) | gnomAD v4 |
19 | g.35730039T>A | CA405418973 | KMT2B | c.4924T>A (p.Phe1642Ile) c.2531T>A (n.2531T>A) c.208T>A (p.Phe70Ile) c.416T>A n.143T>A c.211T>A (p.Phe71Ile) c.4532T>A c.4990T>A (p.Phe1664Ile) c.2312T>A c.4714T>A (p.Phe1572Ile) c.4426T>A (p.Phe1476Ile) c.1954T>A (p.Phe652Ile) | |
19 | g.35730039T>C | CA405418975 | KMT2B | c.4924T>C (p.Phe1642Leu) c.2531T>C (n.2531T>C) c.208T>C (p.Phe70Leu) c.416T>C n.143T>C c.211T>C (p.Phe71Leu) c.4532T>C c.4990T>C (p.Phe1664Leu) c.2312T>C c.4714T>C (p.Phe1572Leu) c.4426T>C (p.Phe1476Leu) c.1954T>C (p.Phe652Leu) | |
19 | g.35730039T>G | CA405418977 | KMT2B | c.4924T>G (p.Phe1642Val) c.2531T>G (n.2531T>G) c.208T>G (p.Phe70Val) c.416T>G n.143T>G c.211T>G (p.Phe71Val) c.4532T>G c.4990T>G (p.Phe1664Val) c.2312T>G c.4714T>G (p.Phe1572Val) c.4426T>G (p.Phe1476Val) c.1954T>G (p.Phe652Val) | |
19 | g.35730040T>A | CA405418982 | KMT2B | c.4925T>A (p.Phe1642Tyr) c.2532T>A (n.2532T>A) c.209T>A (p.Phe70Tyr) c.417T>A n.144T>A c.212T>A (p.Phe71Tyr) c.4533T>A c.4991T>A (p.Phe1664Tyr) c.2313T>A c.4715T>A (p.Phe1572Tyr) c.4427T>A (p.Phe1476Tyr) c.1955T>A (p.Phe652Tyr) | |
19 | g.35730040T>C | CA405418983 | KMT2B | c.4925T>C (p.Phe1642Ser) c.2532T>C (n.2532T>C) c.209T>C (p.Phe70Ser) c.417T>C n.144T>C c.212T>C (p.Phe71Ser) c.4533T>C c.4991T>C (p.Phe1664Ser) c.2313T>C c.4715T>C (p.Phe1572Ser) c.4427T>C (p.Phe1476Ser) c.1955T>C (p.Phe652Ser) | |
19 | g.35730040T>G | CA405418980 | KMT2B | c.4925T>G (p.Phe1642Cys) c.2532T>G (n.2532T>G) c.209T>G (p.Phe70Cys) c.417T>G n.144T>G c.212T>G (p.Phe71Cys) c.4533T>G c.4991T>G (p.Phe1664Cys) c.2313T>G c.4715T>G (p.Phe1572Cys) c.4427T>G (p.Phe1476Cys) c.1955T>G (p.Phe652Cys) | |
19 | g.35730041C>A | CA405418985 | KMT2B | c.4926C>A (p.Phe1642Leu) c.2533C>A (n.2533C>A) c.210C>A (p.Phe70Leu) c.418C>A n.145C>A c.213C>A (p.Phe71Leu) c.4534C>A c.4992C>A (p.Phe1664Leu) c.2314C>A c.4716C>A (p.Phe1572Leu) c.4428C>A (p.Phe1476Leu) c.1956C>A (p.Phe652Leu) | |
19 | g.35730041C>G | CA405418986 | KMT2B | c.4926C>G (p.Phe1642Leu) c.2533C>G (n.2533C>G) c.210C>G (p.Phe70Leu) c.418C>G n.145C>G c.213C>G (p.Phe71Leu) c.4534C>G c.4992C>G (p.Phe1664Leu) c.2314C>G c.4716C>G (p.Phe1572Leu) c.4428C>G (p.Phe1476Leu) c.1956C>G (p.Phe652Leu) | |
19 | g.35730041C>T | CA507072616 | KMT2B | c.4926C>T (p.Phe1642=) c.2533C>T (n.2533C>T) c.210C>T (p.Phe70=) c.418C>T n.145C>T c.213C>T (p.Phe71=) c.4534C>T c.4992C>T (p.Phe1664=) c.2314C>T c.4716C>T (p.Phe1572=) c.4428C>T (p.Phe1476=) c.1956C>T (p.Phe652=) | |
19 | g.35730042A>C | CA405418988 | KMT2B | c.4927A>C (p.Met1643Leu) c.2534A>C (n.2534A>C) c.211A>C (p.Met71Leu) c.419A>C n.146A>C c.214A>C (p.Met72Leu) c.4535A>C c.4993A>C (p.Met1665Leu) c.2315A>C c.4717A>C (p.Met1573Leu) c.4429A>C (p.Met1477Leu) c.1957A>C (p.Met653Leu) | |
19 | g.35730042A>G | CA405418990 | KMT2B | c.4927A>G (p.Met1643Val) c.2534A>G (n.2534A>G) c.211A>G (p.Met71Val) c.419A>G n.146A>G c.214A>G (p.Met72Val) c.4535A>G c.4993A>G (p.Met1665Val) c.2315A>G c.4717A>G (p.Met1573Val) c.4429A>G (p.Met1477Val) c.1957A>G (p.Met653Val) | |
19 | g.35730042A>T | CA405418992 | KMT2B | c.4927A>T (p.Met1643Leu) c.2534A>T (n.2534A>T) c.211A>T (p.Met71Leu) c.419A>T n.146A>T c.214A>T (p.Met72Leu) c.4535A>T c.4993A>T (p.Met1665Leu) c.2315A>T c.4717A>T (p.Met1573Leu) c.4429A>T (p.Met1477Leu) c.1957A>T (p.Met653Leu) | |
19 | g.35730043T>A | CA405418995 | KMT2B | c.4928T>A (p.Met1643Lys) c.2535T>A (n.2535T>A) c.212T>A (p.Met71Lys) c.420T>A n.147T>A c.215T>A (p.Met72Lys) c.4536T>A c.4994T>A (p.Met1665Lys) c.2316T>A c.4718T>A (p.Met1573Lys) c.4430T>A (p.Met1477Lys) c.1958T>A (p.Met653Lys) | |
19 | g.35730043T>C | CA405418996 | KMT2B | c.4928T>C (p.Met1643Thr) c.2535T>C (n.2535T>C) c.212T>C (p.Met71Thr) c.420T>C n.147T>C c.215T>C (p.Met72Thr) c.4536T>C c.4994T>C (p.Met1665Thr) c.2316T>C c.4718T>C (p.Met1573Thr) c.4430T>C (p.Met1477Thr) c.1958T>C (p.Met653Thr) | |
19 | g.35730043T>G | CA405418998 | KMT2B | c.4928T>G (p.Met1643Arg) c.2535T>G (n.2535T>G) c.212T>G (p.Met71Arg) c.420T>G n.147T>G c.215T>G (p.Met72Arg) c.4536T>G c.4994T>G (p.Met1665Arg) c.2316T>G c.4718T>G (p.Met1573Arg) c.4430T>G (p.Met1477Arg) c.1958T>G (p.Met653Arg) | |
19 | g.35730044G>A | CA405419001 | KMT2B | c.4929G>A (p.Met1643Ile) c.2536G>A (n.2536G>A) c.213G>A (p.Met71Ile) c.421G>A n.148G>A c.216G>A (p.Met72Ile) c.4537G>A c.4995G>A (p.Met1665Ile) c.2317G>A c.4719G>A (p.Met1573Ile) c.4431G>A (p.Met1477Ile) c.1959G>A (p.Met653Ile) | |
19 | g.35730044G>C | CA405419003 | KMT2B | c.4929G>C (p.Met1643Ile) c.2536G>C (n.2536G>C) c.213G>C (p.Met71Ile) c.421G>C n.148G>C c.216G>C (p.Met72Ile) c.4537G>C c.4995G>C (p.Met1665Ile) c.2317G>C c.4719G>C (p.Met1573Ile) c.4431G>C (p.Met1477Ile) c.1959G>C (p.Met653Ile) | |
19 | g.35730044G>T | CA405419005 | KMT2B | c.4929G>T (p.Met1643Ile) c.2536G>T (n.2536G>T) c.213G>T (p.Met71Ile) c.421G>T n.148G>T c.216G>T (p.Met72Ile) c.4537G>T c.4995G>T (p.Met1665Ile) c.2317G>T c.4719G>T (p.Met1573Ile) c.4431G>T (p.Met1477Ile) c.1959G>T (p.Met653Ile) | |
19 | g.35730045T>A | CA405419013 | KMT2B | c.4930T>A (p.Cys1644Ser) c.2537T>A (n.2537T>A) c.214T>A (p.Cys72Ser) c.422T>A n.149T>A c.217T>A (p.Cys73Ser) c.4538T>A c.4996T>A (p.Cys1666Ser) c.2318T>A c.4720T>A (p.Cys1574Ser) c.4432T>A (p.Cys1478Ser) c.1960T>A (p.Cys654Ser) | |
19 | g.35730045T>C | CA405419011 | KMT2B | c.4930T>C (p.Cys1644Arg) c.2537T>C (n.2537T>C) c.214T>C (p.Cys72Arg) c.422T>C n.149T>C c.217T>C (p.Cys73Arg) c.4538T>C c.4996T>C (p.Cys1666Arg) c.2318T>C c.4720T>C (p.Cys1574Arg) c.4432T>C (p.Cys1478Arg) c.1960T>C (p.Cys654Arg) | |
19 | g.35730045T>G | CA405419008 | KMT2B | c.4930T>G (p.Cys1644Gly) c.2537T>G (n.2537T>G) c.214T>G (p.Cys72Gly) c.422T>G n.149T>G c.217T>G (p.Cys73Gly) c.4538T>G c.4996T>G (p.Cys1666Gly) c.2318T>G c.4720T>G (p.Cys1574Gly) c.4432T>G (p.Cys1478Gly) c.1960T>G (p.Cys654Gly) | |
19 | g.35730046G>A | CA405419016 | KMT2B | c.4931G>A (p.Cys1644Tyr) c.2538G>A (n.2538G>A) c.215G>A (p.Cys72Tyr) c.423G>A n.150G>A c.218G>A (p.Cys73Tyr) c.4539G>A c.4997G>A (p.Cys1666Tyr) c.2319G>A c.4721G>A (p.Cys1574Tyr) c.4433G>A (p.Cys1478Tyr) c.1961G>A (p.Cys654Tyr) | |
19 | g.35730046G>C | CA405419017 | KMT2B | c.4931G>C (p.Cys1644Ser) c.2538G>C (n.2538G>C) c.215G>C (p.Cys72Ser) c.423G>C n.150G>C c.218G>C (p.Cys73Ser) c.4539G>C c.4997G>C (p.Cys1666Ser) c.2319G>C c.4721G>C (p.Cys1574Ser) c.4433G>C (p.Cys1478Ser) c.1961G>C (p.Cys654Ser) | |
19 | g.35730046G>T | CA405419020 | KMT2B | c.4931G>T (p.Cys1644Phe) c.2538G>T (n.2538G>T) c.215G>T (p.Cys72Phe) c.423G>T n.150G>T c.218G>T (p.Cys73Phe) c.4539G>T c.4997G>T (p.Cys1666Phe) c.2319G>T c.4721G>T (p.Cys1574Phe) c.4433G>T (p.Cys1478Phe) c.1961G>T (p.Cys654Phe) | |
19 | g.35730047T>A | CA405419022 | KMT2B | c.4932T>A (p.Cys1644Ter) c.2539T>A (n.2539T>A) c.216T>A (p.Cys72Ter) c.424T>A n.151T>A c.219T>A (p.Cys73Ter) c.4540T>A c.4998T>A (p.Cys1666Ter) c.2320T>A c.4722T>A (p.Cys1574Ter) c.4434T>A (p.Cys1478Ter) c.1962T>A (p.Cys654Ter) | |
19 | g.35730047T>C | CA507072626 | KMT2B | c.4932T>C (p.Cys1644=) c.2539T>C (n.2539T>C) c.216T>C (p.Cys72=) c.424T>C n.151T>C c.219T>C (p.Cys73=) c.4540T>C c.4998T>C (p.Cys1666=) c.2320T>C c.4722T>C (p.Cys1574=) c.4434T>C (p.Cys1478=) c.1962T>C (p.Cys654=) | |
19 | g.35730047T>G | CA405419024 | KMT2B | c.4932T>G (p.Cys1644Trp) c.2539T>G (n.2539T>G) c.216T>G (p.Cys72Trp) c.424T>G n.151T>G c.219T>G (p.Cys73Trp) c.4540T>G c.4998T>G (p.Cys1666Trp) c.2320T>G c.4722T>G (p.Cys1574Trp) c.4434T>G (p.Cys1478Trp) c.1962T>G (p.Cys654Trp) | |
19 | g.35730048G>A | CA405419026 | KMT2B | c.4933G>A (p.Ala1645Thr) c.2540G>A (n.2540G>A) c.217G>A (p.Ala73Thr) c.425G>A n.152G>A c.220G>A (p.Ala74Thr) c.4541G>A c.4999G>A (p.Ala1667Thr) c.2321G>A c.4723G>A (p.Ala1575Thr) c.4435G>A (p.Ala1479Thr) c.1963G>A (p.Ala655Thr) | |
19 | g.35730048G>C | CA405419028 | KMT2B | c.4933G>C (p.Ala1645Pro) c.2540G>C (n.2540G>C) c.217G>C (p.Ala73Pro) c.425G>C n.152G>C c.220G>C (p.Ala74Pro) c.4541G>C c.4999G>C (p.Ala1667Pro) c.2321G>C c.4723G>C (p.Ala1575Pro) c.4435G>C (p.Ala1479Pro) c.1963G>C (p.Ala655Pro) | |
19 | g.35730048G>T | CA405419030 | KMT2B | c.4933G>T (p.Ala1645Ser) c.2540G>T (n.2540G>T) c.217G>T (p.Ala73Ser) c.425G>T n.152G>T c.220G>T (p.Ala74Ser) c.4541G>T c.4999G>T (p.Ala1667Ser) c.2321G>T c.4723G>T (p.Ala1575Ser) c.4435G>T (p.Ala1479Ser) c.1963G>T (p.Ala655Ser) | |
19 | g.35730048delinsTC | CA2580613110 | KMT2B | c.4933delinsTC (p.Ala1645SerfsTer11) c.2540delinsTC (n.2540delinsTC) c.217delinsTC (p.Ala73SerfsTer11) c.425delinsTC n.152delinsTC c.220delinsTC (p.Ala74SerfsTer11) c.4541delinsTC c.4999delinsTC (p.Ala1667SerfsTer11) c.2321delinsTC c.4723delinsTC (p.Ala1575SerfsTer11) c.4435delinsTC (p.Ala1479SerfsTer11) c.1963delinsTC (p.Ala655SerfsTer11) | ClinVar |
19 | g.35730049C>A | CA405419032 | KMT2B | c.4934C>A (p.Ala1645Asp) c.2541C>A (n.2541C>A) c.218C>A (p.Ala73Asp) c.426C>A n.153C>A c.221C>A (p.Ala74Asp) c.4542C>A c.5000C>A (p.Ala1667Asp) c.2322C>A c.4724C>A (p.Ala1575Asp) c.4436C>A (p.Ala1479Asp) c.1964C>A (p.Ala655Asp) | |
19 | g.35730049C>G | CA405419033 | KMT2B | c.4934C>G (p.Ala1645Gly) c.2541C>G (n.2541C>G) c.218C>G (p.Ala73Gly) c.426C>G n.153C>G c.221C>G (p.Ala74Gly) c.4542C>G c.5000C>G (p.Ala1667Gly) c.2322C>G c.4724C>G (p.Ala1575Gly) c.4436C>G (p.Ala1479Gly) c.1964C>G (p.Ala655Gly) | |
19 | g.35730049C>T | CA405419035 | KMT2B | c.4934C>T (p.Ala1645Val) c.2541C>T (n.2541C>T) c.218C>T (p.Ala73Val) c.426C>T n.153C>T c.221C>T (p.Ala74Val) c.4542C>T c.5000C>T (p.Ala1667Val) c.2322C>T c.4724C>T (p.Ala1575Val) c.4436C>T (p.Ala1479Val) c.1964C>T (p.Ala655Val) | gnomAD v4 |
19 | g.35730050C>A | CA507072632 | KMT2B | c.4935C>A (p.Ala1645=) c.2542C>A (n.2542C>A) c.219C>A (p.Ala73=) c.427C>A n.154C>A c.222C>A (p.Ala74=) c.4543C>A c.5001C>A (p.Ala1667=) c.2323C>A c.4725C>A (p.Ala1575=) c.4437C>A (p.Ala1479=) c.1965C>A (p.Ala655=) | |
19 | g.35730050C>G | CA507072633 | KMT2B | c.4935C>G (p.Ala1645=) c.2542C>G (n.2542C>G) c.219C>G (p.Ala73=) c.427C>G n.154C>G c.222C>G (p.Ala74=) c.4543C>G c.5001C>G (p.Ala1667=) c.2323C>G c.4725C>G (p.Ala1575=) c.4437C>G (p.Ala1479=) c.1965C>G (p.Ala655=) | |
19 | g.35730050C>T | CA507072634 | KMT2B | c.4935C>T (p.Ala1645=) c.2542C>T (n.2542C>T) c.219C>T (p.Ala73=) c.427C>T n.154C>T c.222C>T (p.Ala74=) c.4543C>T c.5001C>T (p.Ala1667=) c.2323C>T c.4725C>T (p.Ala1575=) c.4437C>T (p.Ala1479=) c.1965C>T (p.Ala655=) | |
19 | g.35730051C>A | CA507072637 | KMT2B | c.4936C>A (p.Arg1646=) c.2543C>A (n.2543C>A) c.220C>A (p.Arg74=) c.428C>A n.155C>A c.223C>A (p.Arg75=) c.4544C>A c.5002C>A (p.Arg1668=) c.2324C>A c.4726C>A (p.Arg1576=) c.4438C>A (p.Arg1480=) c.1966C>A (p.Arg656=) | |
19 | g.35730051C>G | CA405419038 | KMT2B | c.4936C>G (p.Arg1646Gly) c.2543C>G (n.2543C>G) c.220C>G (p.Arg74Gly) c.428C>G n.155C>G c.223C>G (p.Arg75Gly) c.4544C>G c.5002C>G (p.Arg1668Gly) c.2324C>G c.4726C>G (p.Arg1576Gly) c.4438C>G (p.Arg1480Gly) c.1966C>G (p.Arg656Gly) | |
19 | g.35730051C>T | CA405419040 | KMT2B | c.4936C>T (p.Arg1646Trp) c.2543C>T (n.2543C>T) c.220C>T (p.Arg74Trp) c.428C>T n.155C>T c.223C>T (p.Arg75Trp) c.4544C>T c.5002C>T (p.Arg1668Trp) c.2324C>T c.4726C>T (p.Arg1576Trp) c.4438C>T (p.Arg1480Trp) c.1966C>T (p.Arg656Trp) | ClinVar gnomAD v4 COSMIC |
19 | g.35730052G>A | CA405419043 | KMT2B | c.4937G>A (p.Arg1646Gln) c.2544G>A (n.2544G>A) c.221G>A (p.Arg74Gln) c.429G>A n.156G>A c.224G>A (p.Arg75Gln) c.4545G>A c.5003G>A (p.Arg1668Gln) c.2325G>A c.4727G>A (p.Arg1576Gln) c.4439G>A (p.Arg1480Gln) c.1967G>A (p.Arg656Gln) | |
19 | g.35730052G>C | CA405419044 | KMT2B | c.4937G>C (p.Arg1646Pro) c.2544G>C (n.2544G>C) c.221G>C (p.Arg74Pro) c.429G>C n.156G>C c.224G>C (p.Arg75Pro) c.4545G>C c.5003G>C (p.Arg1668Pro) c.2325G>C c.4727G>C (p.Arg1576Pro) c.4439G>C (p.Arg1480Pro) c.1967G>C (p.Arg656Pro) | |
19 | g.35730052G>T | CA405419042 | KMT2B | c.4937G>T (p.Arg1646Leu) c.2544G>T (n.2544G>T) c.221G>T (p.Arg74Leu) c.429G>T n.156G>T c.224G>T (p.Arg75Leu) c.4545G>T c.5003G>T (p.Arg1668Leu) c.2325G>T c.4727G>T (p.Arg1576Leu) c.4439G>T (p.Arg1480Leu) c.1967G>T (p.Arg656Leu) | |
19 | g.35730053G>A | CA9385270 | KMT2B | c.4938G>A (p.Arg1646=) c.2545G>A (n.2545G>A) c.222G>A (p.Arg74=) c.430G>A n.157G>A c.225G>A (p.Arg75=) c.4546G>A c.5004G>A (p.Arg1668=) c.2326G>A c.4728G>A (p.Arg1576=) c.4440G>A (p.Arg1480=) c.1968G>A (p.Arg656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35730053G>C | CA507072644 | KMT2B | c.4938G>C (p.Arg1646=) c.2545G>C (n.2545G>C) c.222G>C (p.Arg74=) c.430G>C n.157G>C c.225G>C (p.Arg75=) c.4546G>C c.5004G>C (p.Arg1668=) c.2326G>C c.4728G>C (p.Arg1576=) c.4440G>C (p.Arg1480=) c.1968G>C (p.Arg656=) | |
19 | g.35730053G= | CA2333793099 | KMT2B | c.4938G= (p.Arg1646=) c.2545G= (n.2545G=) c.222G= (p.Arg74=) c.430G= n.157G= c.225G= (p.Arg75=) c.4546G= c.5004G= (p.Arg1668=) c.2326G= c.4728G= (p.Arg1576=) c.4440G= (p.Arg1480=) c.1968G= (p.Arg656=) | |
19 | g.35730053G>T | CA507072645 | KMT2B | c.4938G>T (p.Arg1646=) c.2545G>T (n.2545G>T) c.222G>T (p.Arg74=) c.430G>T n.157G>T c.225G>T (p.Arg75=) c.4546G>T c.5004G>T (p.Arg1668=) c.2326G>T c.4728G>T (p.Arg1576=) c.4440G>T (p.Arg1480=) c.1968G>T (p.Arg656=) | |
19 | g.35730054G>A | CA405419046 | KMT2B | c.4939G>A (p.Ala1647Thr) c.2546G>A (n.2546G>A) c.223G>A (p.Ala75Thr) c.431G>A n.158G>A c.226G>A (p.Ala76Thr) c.4547G>A c.5005G>A (p.Ala1669Thr) c.2327G>A c.4729G>A (p.Ala1577Thr) c.4441G>A (p.Ala1481Thr) c.1969G>A (p.Ala657Thr) | |
19 | g.35730054G>C | CA405419048 | KMT2B | c.4939G>C (p.Ala1647Pro) c.2546G>C (n.2546G>C) c.223G>C (p.Ala75Pro) c.431G>C n.158G>C c.226G>C (p.Ala76Pro) c.4547G>C c.5005G>C (p.Ala1669Pro) c.2327G>C c.4729G>C (p.Ala1577Pro) c.4441G>C (p.Ala1481Pro) c.1969G>C (p.Ala657Pro) | |
19 | g.35730054G>T | CA405419049 | KMT2B | c.4939G>T (p.Ala1647Ser) c.2546G>T (n.2546G>T) c.223G>T (p.Ala75Ser) c.431G>T n.158G>T c.226G>T (p.Ala76Ser) c.4547G>T c.5005G>T (p.Ala1669Ser) c.2327G>T c.4729G>T (p.Ala1577Ser) c.4441G>T (p.Ala1481Ser) c.1969G>T (p.Ala657Ser) | |
19 | g.35730055C>A | CA405419052 | KMT2B | c.4940C>A (p.Ala1647Asp) c.2547C>A (n.2547C>A) c.224C>A (p.Ala75Asp) c.432C>A n.159C>A c.227C>A (p.Ala76Asp) c.4548C>A c.5006C>A (p.Ala1669Asp) c.2328C>A c.4730C>A (p.Ala1577Asp) c.4442C>A (p.Ala1481Asp) c.1970C>A (p.Ala657Asp) | |
19 | g.35730055C= | CA2333793100 | KMT2B | c.4940C= (p.Ala1647=) c.2547C= (n.2547C=) c.224C= (p.Ala75=) c.432C= n.159C= c.227C= (p.Ala76=) c.4548C= c.5006C= (p.Ala1669=) c.2328C= c.4730C= (p.Ala1577=) c.4442C= (p.Ala1481=) c.1970C= (p.Ala657=) | |
19 | g.35730055C>G | CA405419054 | KMT2B | c.4940C>G (p.Ala1647Gly) c.2547C>G (n.2547C>G) c.224C>G (p.Ala75Gly) c.432C>G n.159C>G c.227C>G (p.Ala76Gly) c.4548C>G c.5006C>G (p.Ala1669Gly) c.2328C>G c.4730C>G (p.Ala1577Gly) c.4442C>G (p.Ala1481Gly) c.1970C>G (p.Ala657Gly) | |
19 | g.35730055C>T | CA405419055 | KMT2B | c.4940C>T (p.Ala1647Val) c.2547C>T (n.2547C>T) c.224C>T (p.Ala75Val) c.432C>T n.159C>T c.227C>T (p.Ala76Val) c.4548C>T c.5006C>T (p.Ala1669Val) c.2328C>T c.4730C>T (p.Ala1577Val) c.4442C>T (p.Ala1481Val) c.1970C>T (p.Ala657Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730056C>A | CA507072648 | KMT2B | c.4941C>A (p.Ala1647=) c.2548C>A (n.2548C>A) c.225C>A (p.Ala75=) c.433C>A n.160C>A c.228C>A (p.Ala76=) c.4549C>A c.5007C>A (p.Ala1669=) c.2329C>A c.4731C>A (p.Ala1577=) c.4443C>A (p.Ala1481=) c.1971C>A (p.Ala657=) | |
19 | g.35730056C>G | CA507072649 | KMT2B | c.4941C>G (p.Ala1647=) c.2548C>G (n.2548C>G) c.225C>G (p.Ala75=) c.433C>G n.160C>G c.228C>G (p.Ala76=) c.4549C>G c.5007C>G (p.Ala1669=) c.2329C>G c.4731C>G (p.Ala1577=) c.4443C>G (p.Ala1481=) c.1971C>G (p.Ala657=) | |
19 | g.35730056C>T | CA507072652 | KMT2B | c.4941C>T (p.Ala1647=) c.2548C>T (n.2548C>T) c.225C>T (p.Ala75=) c.433C>T n.160C>T c.228C>T (p.Ala76=) c.4549C>T c.5007C>T (p.Ala1669=) c.2329C>T c.4731C>T (p.Ala1577=) c.4443C>T (p.Ala1481=) c.1971C>T (p.Ala657=) | |
19 | g.35730057A= | CA2333793101 | KMT2B | c.4942A= (p.Ser1648=) c.2549A= (n.2549A=) c.226A= (p.Ser76=) c.434A= n.161A= c.229A= (p.Ser77=) c.4550A= c.5008A= (p.Ser1670=) c.2330A= c.4732A= (p.Ser1578=) c.4444A= (p.Ser1482=) c.1972A= (p.Ser658=) | |
19 | g.35730057A>C | CA405419057 | KMT2B | c.4942A>C (p.Ser1648Arg) c.2549A>C (n.2549A>C) c.226A>C (p.Ser76Arg) c.434A>C n.161A>C c.229A>C (p.Ser77Arg) c.4550A>C c.5008A>C (p.Ser1670Arg) c.2330A>C c.4732A>C (p.Ser1578Arg) c.4444A>C (p.Ser1482Arg) c.1972A>C (p.Ser658Arg) | |
19 | g.35730057A>G | CA9385271 | KMT2B | c.4942A>G (p.Ser1648Gly) c.2549A>G (n.2549A>G) c.226A>G (p.Ser76Gly) c.434A>G n.161A>G c.229A>G (p.Ser77Gly) c.4550A>G c.5008A>G (p.Ser1670Gly) c.2330A>G c.4732A>G (p.Ser1578Gly) c.4444A>G (p.Ser1482Gly) c.1972A>G (p.Ser658Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35730057A>T | CA405419060 | KMT2B | c.4942A>T (p.Ser1648Cys) c.2549A>T (n.2549A>T) c.226A>T (p.Ser76Cys) c.434A>T n.161A>T c.229A>T (p.Ser77Cys) c.4550A>T c.5008A>T (p.Ser1670Cys) c.2330A>T c.4732A>T (p.Ser1578Cys) c.4444A>T (p.Ser1482Cys) c.1972A>T (p.Ser658Cys) | |
19 | g.35730058G>A | CA405419064 | KMT2B | c.4943G>A (p.Ser1648Asn) c.2550G>A (n.2550G>A) c.227G>A (p.Ser76Asn) c.435G>A n.162G>A c.230G>A (p.Ser77Asn) c.4551G>A c.5009G>A (p.Ser1670Asn) c.2331G>A c.4733G>A (p.Ser1578Asn) c.4445G>A (p.Ser1482Asn) c.1973G>A (p.Ser658Asn) | dbSNP gnomAD v2 |
19 | g.35730058G>C | CA405419067 | KMT2B | c.4943G>C (p.Ser1648Thr) c.2550G>C (n.2550G>C) c.227G>C (p.Ser76Thr) c.435G>C n.162G>C c.230G>C (p.Ser77Thr) c.4551G>C c.5009G>C (p.Ser1670Thr) c.2331G>C c.4733G>C (p.Ser1578Thr) c.4445G>C (p.Ser1482Thr) c.1973G>C (p.Ser658Thr) | |
19 | g.35730058G= | CA2333793102 | KMT2B | c.4943G= (p.Ser1648=) c.2550G= (n.2550G=) c.227G= (p.Ser76=) c.435G= n.162G= c.230G= (p.Ser77=) c.4551G= c.5009G= (p.Ser1670=) c.2331G= c.4733G= (p.Ser1578=) c.4445G= (p.Ser1482=) c.1973G= (p.Ser658=) | |
19 | g.35730058G>T | CA405419069 | KMT2B | c.4943G>T (p.Ser1648Ile) c.2550G>T (n.2550G>T) c.227G>T (p.Ser76Ile) c.435G>T n.162G>T c.230G>T (p.Ser77Ile) c.4551G>T c.5009G>T (p.Ser1670Ile) c.2331G>T c.4733G>T (p.Ser1578Ile) c.4445G>T (p.Ser1482Ile) c.1973G>T (p.Ser658Ile) | |
19 | g.35730059C>A | CA405419079 | KMT2B | c.4944C>A (p.Ser1648Arg) c.2551C>A (n.2551C>A) c.228C>A (p.Ser76Arg) c.436C>A n.163C>A c.231C>A (p.Ser77Arg) c.4552C>A c.5010C>A (p.Ser1670Arg) c.2332C>A c.4734C>A (p.Ser1578Arg) c.4446C>A (p.Ser1482Arg) c.1974C>A (p.Ser658Arg) | |
19 | g.35730059C= | CA2333793103 | KMT2B | c.4944C= (p.Ser1648=) c.2551C= (n.2551C=) c.228C= (p.Ser76=) c.436C= n.163C= c.231C= (p.Ser77=) c.4552C= c.5010C= (p.Ser1670=) c.2332C= c.4734C= (p.Ser1578=) c.4446C= (p.Ser1482=) c.1974C= (p.Ser658=) | |
19 | g.35730059C>G | CA405419074 | KMT2B | c.4944C>G (p.Ser1648Arg) c.2551C>G (n.2551C>G) c.228C>G (p.Ser76Arg) c.436C>G n.163C>G c.231C>G (p.Ser77Arg) c.4552C>G c.5010C>G (p.Ser1670Arg) c.2332C>G c.4734C>G (p.Ser1578Arg) c.4446C>G (p.Ser1482Arg) c.1974C>G (p.Ser658Arg) | |
19 | g.35730059C>T | CA9385272 | KMT2B | c.4944C>T (p.Ser1648=) c.2551C>T (n.2551C>T) c.228C>T (p.Ser76=) c.436C>T n.163C>T c.231C>T (p.Ser77=) c.4552C>T c.5010C>T (p.Ser1670=) c.2332C>T c.4734C>T (p.Ser1578=) c.4446C>T (p.Ser1482=) c.1974C>T (p.Ser658=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730060T>A | CA405419082 | KMT2B | c.4945T>A (p.Tyr1649Asn) c.2552T>A (n.2552T>A) c.229T>A (p.Tyr77Asn) c.437T>A n.164T>A c.232T>A (p.Tyr78Asn) c.4553T>A c.5011T>A (p.Tyr1671Asn) c.2333T>A c.4735T>A (p.Tyr1579Asn) c.4447T>A (p.Tyr1483Asn) c.1975T>A (p.Tyr659Asn) | |
19 | g.35730060T>C | CA405419086 | KMT2B | c.4945T>C (p.Tyr1649His) c.2552T>C (n.2552T>C) c.229T>C (p.Tyr77His) c.437T>C n.164T>C c.232T>C (p.Tyr78His) c.4553T>C c.5011T>C (p.Tyr1671His) c.2333T>C c.4735T>C (p.Tyr1579His) c.4447T>C (p.Tyr1483His) c.1975T>C (p.Tyr659His) | |
19 | g.35730060T>G | CA405419088 | KMT2B | c.4945T>G (p.Tyr1649Asp) c.2552T>G (n.2552T>G) c.229T>G (p.Tyr77Asp) c.437T>G n.164T>G c.232T>G (p.Tyr78Asp) c.4553T>G c.5011T>G (p.Tyr1671Asp) c.2333T>G c.4735T>G (p.Tyr1579Asp) c.4447T>G (p.Tyr1483Asp) c.1975T>G (p.Tyr659Asp) | |
19 | g.35730061A>C | CA405419091 | KMT2B | c.4946A>C (p.Tyr1649Ser) c.2553A>C (n.2553A>C) c.230A>C (p.Tyr77Ser) c.438A>C n.165A>C c.233A>C (p.Tyr78Ser) c.4554A>C c.5012A>C (p.Tyr1671Ser) c.2334A>C c.4736A>C (p.Tyr1579Ser) c.4448A>C (p.Tyr1483Ser) c.1976A>C (p.Tyr659Ser) | |
19 | g.35730061A>G | CA405419094 | KMT2B | c.4946A>G (p.Tyr1649Cys) c.2553A>G (n.2553A>G) c.230A>G (p.Tyr77Cys) c.438A>G n.165A>G c.233A>G (p.Tyr78Cys) c.4554A>G c.5012A>G (p.Tyr1671Cys) c.2334A>G c.4736A>G (p.Tyr1579Cys) c.4448A>G (p.Tyr1483Cys) c.1976A>G (p.Tyr659Cys) | ClinVar gnomAD v4 |
19 | g.35730061A>T | CA405419096 | KMT2B | c.4946A>T (p.Tyr1649Phe) c.2553A>T (n.2553A>T) c.230A>T (p.Tyr77Phe) c.438A>T n.165A>T c.233A>T (p.Tyr78Phe) c.4554A>T c.5012A>T (p.Tyr1671Phe) c.2334A>T c.4736A>T (p.Tyr1579Phe) c.4448A>T (p.Tyr1483Phe) c.1976A>T (p.Tyr659Phe) | |
19 | g.35730062C>A | CA405419098 | KMT2B | c.4947C>A (p.Tyr1649Ter) c.2554C>A (n.2554C>A) c.231C>A (p.Tyr77Ter) c.439C>A n.166C>A c.234C>A (p.Tyr78Ter) c.4555C>A c.5013C>A (p.Tyr1671Ter) c.2335C>A c.4737C>A (p.Tyr1579Ter) c.4449C>A (p.Tyr1483Ter) c.1977C>A (p.Tyr659Ter) | |
19 | g.35730062C>G | CA405419100 | KMT2B | c.4947C>G (p.Tyr1649Ter) c.2554C>G (n.2554C>G) c.231C>G (p.Tyr77Ter) c.439C>G n.166C>G c.234C>G (p.Tyr78Ter) c.4555C>G c.5013C>G (p.Tyr1671Ter) c.2335C>G c.4737C>G (p.Tyr1579Ter) c.4449C>G (p.Tyr1483Ter) c.1977C>G (p.Tyr659Ter) | |
19 | g.35730062C>T | CA507072659 | KMT2B | c.4947C>T (p.Tyr1649=) c.2554C>T (n.2554C>T) c.231C>T (p.Tyr77=) c.439C>T n.166C>T c.234C>T (p.Tyr78=) c.4555C>T c.5013C>T (p.Tyr1671=) c.2335C>T c.4737C>T (p.Tyr1579=) c.4449C>T (p.Tyr1483=) c.1977C>T (p.Tyr659=) | |
19 | g.35730063T>A | CA405419104 | KMT2B | c.4948T>A (p.Cys1650Ser) c.2555T>A (n.2555T>A) c.232T>A (p.Cys78Ser) c.440T>A n.167T>A c.235T>A (p.Cys79Ser) c.4556T>A c.5014T>A (p.Cys1672Ser) c.2336T>A c.4738T>A (p.Cys1580Ser) c.4450T>A (p.Cys1484Ser) c.1978T>A (p.Cys660Ser) | |
19 | g.35730063T>C | CA405419106 | KMT2B | c.4948T>C (p.Cys1650Arg) c.2555T>C (n.2555T>C) c.232T>C (p.Cys78Arg) c.440T>C n.167T>C c.235T>C (p.Cys79Arg) c.4556T>C c.5014T>C (p.Cys1672Arg) c.2336T>C c.4738T>C (p.Cys1580Arg) c.4450T>C (p.Cys1484Arg) c.1978T>C (p.Cys660Arg) | |
19 | g.35730063T>G | CA405419108 | KMT2B | c.4948T>G (p.Cys1650Gly) c.2555T>G (n.2555T>G) c.232T>G (p.Cys78Gly) c.440T>G n.167T>G c.235T>G (p.Cys79Gly) c.4556T>G c.5014T>G (p.Cys1672Gly) c.2336T>G c.4738T>G (p.Cys1580Gly) c.4450T>G (p.Cys1484Gly) c.1978T>G (p.Cys660Gly) | |
19 | g.35730064G>A | CA405419114 | KMT2B | c.4949G>A (p.Cys1650Tyr) c.2556G>A (n.2556G>A) c.233G>A (p.Cys78Tyr) c.441G>A n.168G>A c.236G>A (p.Cys79Tyr) c.4557G>A c.5015G>A (p.Cys1672Tyr) c.2337G>A c.4739G>A (p.Cys1580Tyr) c.4451G>A (p.Cys1484Tyr) c.1979G>A (p.Cys660Tyr) | |
19 | g.35730064G>C | CA405419116 | KMT2B | c.4949G>C (p.Cys1650Ser) c.2556G>C (n.2556G>C) c.233G>C (p.Cys78Ser) c.441G>C n.168G>C c.236G>C (p.Cys79Ser) c.4557G>C c.5015G>C (p.Cys1672Ser) c.2337G>C c.4739G>C (p.Cys1580Ser) c.4451G>C (p.Cys1484Ser) c.1979G>C (p.Cys660Ser) | |
19 | g.35730064G>T | CA405419113 | KMT2B | c.4949G>T (p.Cys1650Phe) c.2556G>T (n.2556G>T) c.233G>T (p.Cys78Phe) c.441G>T n.168G>T c.236G>T (p.Cys79Phe) c.4557G>T c.5015G>T (p.Cys1672Phe) c.2337G>T c.4739G>T (p.Cys1580Phe) c.4451G>T (p.Cys1484Phe) c.1979G>T (p.Cys660Phe) | |
19 | g.35730065C>A | CA405419119 | KMT2B | c.4950C>A (p.Cys1650Ter) c.2557C>A (n.2557C>A) c.234C>A (p.Cys78Ter) c.442C>A n.169C>A c.237C>A (p.Cys79Ter) c.4558C>A c.5016C>A (p.Cys1672Ter) c.2338C>A c.4740C>A (p.Cys1580Ter) c.4452C>A (p.Cys1484Ter) c.1980C>A (p.Cys660Ter) | |
19 | g.35730065C= | CA2333793104 | KMT2B | c.4950C= (p.Cys1650=) c.2557C= (n.2557C=) c.234C= (p.Cys78=) c.442C= n.169C= c.237C= (p.Cys79=) c.4558C= c.5016C= (p.Cys1672=) c.2338C= c.4740C= (p.Cys1580=) c.4452C= (p.Cys1484=) c.1980C= (p.Cys660=) | |
19 | g.35730065C>G | CA405419121 | KMT2B | c.4950C>G (p.Cys1650Trp) c.2557C>G (n.2557C>G) c.234C>G (p.Cys78Trp) c.442C>G n.169C>G c.237C>G (p.Cys79Trp) c.4558C>G c.5016C>G (p.Cys1672Trp) c.2338C>G c.4740C>G (p.Cys1580Trp) c.4452C>G (p.Cys1484Trp) c.1980C>G (p.Cys660Trp) | |
19 | g.35730065C>T | CA507072663 | KMT2B | c.4950C>T (p.Cys1650=) c.2557C>T (n.2557C>T) c.234C>T (p.Cys78=) c.442C>T n.169C>T c.237C>T (p.Cys79=) c.4558C>T c.5016C>T (p.Cys1672=) c.2338C>T c.4740C>T (p.Cys1580=) c.4452C>T (p.Cys1484=) c.1980C>T (p.Cys660=) | dbSNP |
19 | g.35730066A= | CA2333793105 | KMT2B | c.4951A= (p.Ile1651=) c.2558A= (n.2558A=) c.235A= (p.Ile79=) c.443A= n.170A= c.238A= (p.Ile80=) c.4559A= c.5017A= (p.Ile1673=) c.2339A= c.4741A= (p.Ile1581=) c.4453A= (p.Ile1485=) c.1981A= (p.Ile661=) | |
19 | g.35730066A>C | CA405419125 | KMT2B | c.4951A>C (p.Ile1651Leu) c.2558A>C (n.2558A>C) c.235A>C (p.Ile79Leu) c.443A>C n.170A>C c.238A>C (p.Ile80Leu) c.4559A>C c.5017A>C (p.Ile1673Leu) c.2339A>C c.4741A>C (p.Ile1581Leu) c.4453A>C (p.Ile1485Leu) c.1981A>C (p.Ile661Leu) | |
19 | g.35730066A>G | CA405419127 | KMT2B | c.4951A>G (p.Ile1651Val) c.2558A>G (n.2558A>G) c.235A>G (p.Ile79Val) c.443A>G n.170A>G c.238A>G (p.Ile80Val) c.4559A>G c.5017A>G (p.Ile1673Val) c.2339A>G c.4741A>G (p.Ile1581Val) c.4453A>G (p.Ile1485Val) c.1981A>G (p.Ile661Val) | dbSNP gnomAD v4 |
19 | g.35730066A>T | CA405419130 | KMT2B | c.4951A>T (p.Ile1651Phe) c.2558A>T (n.2558A>T) c.235A>T (p.Ile79Phe) c.443A>T n.170A>T c.238A>T (p.Ile80Phe) c.4559A>T c.5017A>T (p.Ile1673Phe) c.2339A>T c.4741A>T (p.Ile1581Phe) c.4453A>T (p.Ile1485Phe) c.1981A>T (p.Ile661Phe) | |
19 | g.35730067T>A | CA405419132 | KMT2B | c.4952T>A (p.Ile1651Asn) c.2559T>A (n.2559T>A) c.236T>A (p.Ile79Asn) c.444T>A n.171T>A c.239T>A (p.Ile80Asn) c.4560T>A c.5018T>A (p.Ile1673Asn) c.2340T>A c.4742T>A (p.Ile1581Asn) c.4454T>A (p.Ile1485Asn) c.1982T>A (p.Ile661Asn) | |
19 | g.35730067T>C | CA405419134 | KMT2B | c.4952T>C (p.Ile1651Thr) c.2559T>C (n.2559T>C) c.236T>C (p.Ile79Thr) c.444T>C n.171T>C c.239T>C (p.Ile80Thr) c.4560T>C c.5018T>C (p.Ile1673Thr) c.2340T>C c.4742T>C (p.Ile1581Thr) c.4454T>C (p.Ile1485Thr) c.1982T>C (p.Ile661Thr) | |
19 | g.35730067T>G | CA405419136 | KMT2B | c.4952T>G (p.Ile1651Ser) c.2559T>G (n.2559T>G) c.236T>G (p.Ile79Ser) c.444T>G n.171T>G c.239T>G (p.Ile80Ser) c.4560T>G c.5018T>G (p.Ile1673Ser) c.2340T>G c.4742T>G (p.Ile1581Ser) c.4454T>G (p.Ile1485Ser) c.1982T>G (p.Ile661Ser) | |
19 | g.35730068C>A | CA507072671 | KMT2B | c.4953C>A (p.Ile1651=) c.2560C>A (n.2560C>A) c.237C>A (p.Ile79=) c.445C>A n.172C>A c.240C>A (p.Ile80=) c.4561C>A c.5019C>A (p.Ile1673=) c.2341C>A c.4743C>A (p.Ile1581=) c.4455C>A (p.Ile1485=) c.1983C>A (p.Ile661=) | |
19 | g.35730068C= | CA2333793106 | KMT2B | c.4953C= (p.Ile1651=) c.2560C= (n.2560C=) c.237C= (p.Ile79=) c.445C= n.172C= c.240C= (p.Ile80=) c.4561C= c.5019C= (p.Ile1673=) c.2341C= c.4743C= (p.Ile1581=) c.4455C= (p.Ile1485=) c.1983C= (p.Ile661=) | |
19 | g.35730068C>G | CA405419138 | KMT2B | c.4953C>G (p.Ile1651Met) c.2560C>G (n.2560C>G) c.237C>G (p.Ile79Met) c.445C>G n.172C>G c.240C>G (p.Ile80Met) c.4561C>G c.5019C>G (p.Ile1673Met) c.2341C>G c.4743C>G (p.Ile1581Met) c.4455C>G (p.Ile1485Met) c.1983C>G (p.Ile661Met) | |
19 | g.35730068C>T | CA9385273 | KMT2B | c.4953C>T (p.Ile1651=) c.2560C>T (n.2560C>T) c.237C>T (p.Ile79=) c.445C>T n.172C>T c.240C>T (p.Ile80=) c.4561C>T c.5019C>T (p.Ile1673=) c.2341C>T c.4743C>T (p.Ile1581=) c.4455C>T (p.Ile1485=) c.1983C>T (p.Ile661=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730069T>A | CA405419142 | KMT2B | c.4954T>A (p.Phe1652Ile) c.2561T>A (n.2561T>A) c.238T>A (p.Phe80Ile) c.446T>A n.173T>A c.241T>A (p.Phe81Ile) c.4562T>A c.5020T>A (p.Phe1674Ile) c.2342T>A c.4744T>A (p.Phe1582Ile) c.4456T>A (p.Phe1486Ile) c.1984T>A (p.Phe662Ile) | |
19 | g.35730069T>C | CA405419144 | KMT2B | c.4954T>C (p.Phe1652Leu) c.2561T>C (n.2561T>C) c.238T>C (p.Phe80Leu) c.446T>C n.173T>C c.241T>C (p.Phe81Leu) c.4562T>C c.5020T>C (p.Phe1674Leu) c.2342T>C c.4744T>C (p.Phe1582Leu) c.4456T>C (p.Phe1486Leu) c.1984T>C (p.Phe662Leu) | |
19 | g.35730069T>G | CA405419147 | KMT2B | c.4954T>G (p.Phe1652Val) c.2561T>G (n.2561T>G) c.238T>G (p.Phe80Val) c.446T>G n.173T>G c.241T>G (p.Phe81Val) c.4562T>G c.5020T>G (p.Phe1674Val) c.2342T>G c.4744T>G (p.Phe1582Val) c.4456T>G (p.Phe1486Val) c.1984T>G (p.Phe662Val) | |
19 | g.35730070T>A | CA405419155 | KMT2B | c.4955T>A (p.Phe1652Tyr) c.2562T>A (n.2562T>A) c.239T>A (p.Phe80Tyr) c.447T>A n.174T>A c.242T>A (p.Phe81Tyr) c.4563T>A c.5021T>A (p.Phe1674Tyr) c.2343T>A c.4745T>A (p.Phe1582Tyr) c.4457T>A (p.Phe1486Tyr) c.1985T>A (p.Phe662Tyr) | |
19 | g.35730070T>C | CA405419153 | KMT2B | c.4955T>C (p.Phe1652Ser) c.2562T>C (n.2562T>C) c.239T>C (p.Phe80Ser) c.447T>C n.174T>C c.242T>C (p.Phe81Ser) c.4563T>C c.5021T>C (p.Phe1674Ser) c.2343T>C c.4745T>C (p.Phe1582Ser) c.4457T>C (p.Phe1486Ser) c.1985T>C (p.Phe662Ser) | |
19 | g.35730070T>G | CA405419151 | KMT2B | c.4955T>G (p.Phe1652Cys) c.2562T>G (n.2562T>G) c.239T>G (p.Phe80Cys) c.447T>G n.174T>G c.242T>G (p.Phe81Cys) c.4563T>G c.5021T>G (p.Phe1674Cys) c.2343T>G c.4745T>G (p.Phe1582Cys) c.4457T>G (p.Phe1486Cys) c.1985T>G (p.Phe662Cys) | |
19 | g.35730071C>A | CA405419158 | KMT2B | c.4956C>A (p.Phe1652Leu) c.2563C>A (n.2563C>A) c.240C>A (p.Phe80Leu) c.448C>A n.175C>A c.243C>A (p.Phe81Leu) c.4564C>A c.5022C>A (p.Phe1674Leu) c.2344C>A c.4746C>A (p.Phe1582Leu) c.4458C>A (p.Phe1486Leu) c.1986C>A (p.Phe662Leu) | |
19 | g.35730071C>G | CA405419160 | KMT2B | c.4956C>G (p.Phe1652Leu) c.2563C>G (n.2563C>G) c.240C>G (p.Phe80Leu) c.448C>G n.175C>G c.243C>G (p.Phe81Leu) c.4564C>G c.5022C>G (p.Phe1674Leu) c.2344C>G c.4746C>G (p.Phe1582Leu) c.4458C>G (p.Phe1486Leu) c.1986C>G (p.Phe662Leu) | |
19 | g.35730071C>T | CA507072677 | KMT2B | c.4956C>T (p.Phe1652=) c.2563C>T (n.2563C>T) c.240C>T (p.Phe80=) c.448C>T n.175C>T c.243C>T (p.Phe81=) c.4564C>T c.5022C>T (p.Phe1674=) c.2344C>T c.4746C>T (p.Phe1582=) c.4458C>T (p.Phe1486=) c.1986C>T (p.Phe662=) | gnomAD v4 |
19 | g.35730072C>A | CA405419164 | KMT2B | c.4957C>A (p.Gln1653Lys) c.2564C>A (n.2564C>A) c.241C>A (p.Gln81Lys) c.449C>A n.176C>A c.244C>A (p.Gln82Lys) c.4565C>A c.5023C>A (p.Gln1675Lys) c.2345C>A c.4747C>A (p.Gln1583Lys) c.4459C>A (p.Gln1487Lys) c.1987C>A (p.Gln663Lys) | |
19 | g.35730072C>G | CA405419166 | KMT2B | c.4957C>G (p.Gln1653Glu) c.2564C>G (n.2564C>G) c.241C>G (p.Gln81Glu) c.449C>G n.176C>G c.244C>G (p.Gln82Glu) c.4565C>G c.5023C>G (p.Gln1675Glu) c.2345C>G c.4747C>G (p.Gln1583Glu) c.4459C>G (p.Gln1487Glu) c.1987C>G (p.Gln663Glu) | |
19 | g.35730072C>T | CA405419167 | KMT2B | c.4957C>T (p.Gln1653Ter) c.2564C>T (n.2564C>T) c.241C>T (p.Gln81Ter) c.449C>T n.176C>T c.244C>T (p.Gln82Ter) c.4565C>T c.5023C>T (p.Gln1675Ter) c.2345C>T c.4747C>T (p.Gln1583Ter) c.4459C>T (p.Gln1487Ter) c.1987C>T (p.Gln663Ter) | COSMIC |
19 | g.35730073A>C | CA405419170 | KMT2B | c.4958A>C (p.Gln1653Pro) c.2565A>C (n.2565A>C) c.242A>C (p.Gln81Pro) c.450A>C n.177A>C c.245A>C (p.Gln82Pro) c.4566A>C c.5024A>C (p.Gln1675Pro) c.2346A>C c.4748A>C (p.Gln1583Pro) c.4460A>C (p.Gln1487Pro) c.1988A>C (p.Gln663Pro) | |
19 | g.35730073A>G | CA405419173 | KMT2B | c.4958A>G (p.Gln1653Arg) c.2565A>G (n.2565A>G) c.242A>G (p.Gln81Arg) c.450A>G n.177A>G c.245A>G (p.Gln82Arg) c.4566A>G c.5024A>G (p.Gln1675Arg) c.2346A>G c.4748A>G (p.Gln1583Arg) c.4460A>G (p.Gln1487Arg) c.1988A>G (p.Gln663Arg) | |
19 | g.35730073A>T | CA405419176 | KMT2B | c.4958A>T (p.Gln1653Leu) c.2565A>T (n.2565A>T) c.242A>T (p.Gln81Leu) c.450A>T n.177A>T c.245A>T (p.Gln82Leu) c.4566A>T c.5024A>T (p.Gln1675Leu) c.2346A>T c.4748A>T (p.Gln1583Leu) c.4460A>T (p.Gln1487Leu) c.1988A>T (p.Gln663Leu) | |
19 | g.35730074G>A | CA507072678 | KMT2B | c.4959G>A (p.Gln1653=) c.2566G>A (n.2566G>A) c.243G>A (p.Gln81=) c.451G>A n.178G>A c.246G>A (p.Gln82=) c.4567G>A c.5025G>A (p.Gln1675=) c.2347G>A c.4749G>A (p.Gln1583=) c.4461G>A (p.Gln1487=) c.1989G>A (p.Gln663=) | |
19 | g.35730074G>C | CA405419179 | KMT2B | c.4959G>C (p.Gln1653His) c.2566G>C (n.2566G>C) c.243G>C (p.Gln81His) c.451G>C n.178G>C c.246G>C (p.Gln82His) c.4567G>C c.5025G>C (p.Gln1675His) c.2347G>C c.4749G>C (p.Gln1583His) c.4461G>C (p.Gln1487His) c.1989G>C (p.Gln663His) | |
19 | g.35730074G>T | CA405419181 | KMT2B | c.4959G>T (p.Gln1653His) c.2566G>T (n.2566G>T) c.243G>T (p.Gln81His) c.451G>T n.178G>T c.246G>T (p.Gln82His) c.4567G>T c.5025G>T (p.Gln1675His) c.2347G>T c.4749G>T (p.Gln1583His) c.4461G>T (p.Gln1487His) c.1989G>T (p.Gln663His) | |
19 | g.35730075G>A | CA405419185 | KMT2B | c.4960G>A (p.Asp1654Asn) c.2567G>A (n.2567G>A) c.244G>A (p.Asp82Asn) c.452G>A n.179G>A c.247G>A (p.Asp83Asn) c.4568G>A c.5026G>A (p.Asp1676Asn) c.2348G>A c.4750G>A (p.Asp1584Asn) c.4462G>A (p.Asp1488Asn) c.1990G>A (p.Asp664Asn) | |
19 | g.35730075G>C | CA405419187 | KMT2B | c.4960G>C (p.Asp1654His) c.2567G>C (n.2567G>C) c.244G>C (p.Asp82His) c.452G>C n.179G>C c.247G>C (p.Asp83His) c.4568G>C c.5026G>C (p.Asp1676His) c.2348G>C c.4750G>C (p.Asp1584His) c.4462G>C (p.Asp1488His) c.1990G>C (p.Asp664His) | |
19 | g.35730075G>T | CA405419189 | KMT2B | c.4960G>T (p.Asp1654Tyr) c.2567G>T (n.2567G>T) c.244G>T (p.Asp82Tyr) c.452G>T n.179G>T c.247G>T (p.Asp83Tyr) c.4568G>T c.5026G>T (p.Asp1676Tyr) c.2348G>T c.4750G>T (p.Asp1584Tyr) c.4462G>T (p.Asp1488Tyr) c.1990G>T (p.Asp664Tyr) | |
19 | g.35730076A>C | CA405419194 | KMT2B | c.4961A>C (p.Asp1654Ala) c.2568A>C (n.2568A>C) c.245A>C (p.Asp82Ala) c.453A>C n.180A>C c.248A>C (p.Asp83Ala) c.4569A>C c.5027A>C (p.Asp1676Ala) c.2349A>C c.4751A>C (p.Asp1584Ala) c.4463A>C (p.Asp1488Ala) c.1991A>C (p.Asp664Ala) | |
19 | g.35730076A>G | CA405419197 | KMT2B | c.4961A>G (p.Asp1654Gly) c.2568A>G (n.2568A>G) c.245A>G (p.Asp82Gly) c.453A>G n.180A>G c.248A>G (p.Asp83Gly) c.4569A>G c.5027A>G (p.Asp1676Gly) c.2349A>G c.4751A>G (p.Asp1584Gly) c.4463A>G (p.Asp1488Gly) c.1991A>G (p.Asp664Gly) | |
19 | g.35730076A>T | CA405419192 | KMT2B | c.4961A>T (p.Asp1654Val) c.2568A>T (n.2568A>T) c.245A>T (p.Asp82Val) c.453A>T n.180A>T c.248A>T (p.Asp83Val) c.4569A>T c.5027A>T (p.Asp1676Val) c.2349A>T c.4751A>T (p.Asp1584Val) c.4463A>T (p.Asp1488Val) c.1991A>T (p.Asp664Val) | |
19 | g.35730077T>A | CA405419202 | KMT2B | c.4962T>A (p.Asp1654Glu) c.2569T>A (n.2569T>A) c.246T>A (p.Asp82Glu) c.454T>A n.181T>A c.249T>A (p.Asp83Glu) c.4570T>A c.5028T>A (p.Asp1676Glu) c.2350T>A c.4752T>A (p.Asp1584Glu) c.4464T>A (p.Asp1488Glu) c.1992T>A (p.Asp664Glu) | |
19 | g.35730077T>C | CA507072683 | KMT2B | c.4962T>C (p.Asp1654=) c.2569T>C (n.2569T>C) c.246T>C (p.Asp82=) c.454T>C n.181T>C c.249T>C (p.Asp83=) c.4570T>C c.5028T>C (p.Asp1676=) c.2350T>C c.4752T>C (p.Asp1584=) c.4464T>C (p.Asp1488=) c.1992T>C (p.Asp664=) | |
19 | g.35730077T>G | CA405419200 | KMT2B | c.4962T>G (p.Asp1654Glu) c.2569T>G (n.2569T>G) c.246T>G (p.Asp82Glu) c.454T>G n.181T>G c.249T>G (p.Asp83Glu) c.4570T>G c.5028T>G (p.Asp1676Glu) c.2350T>G c.4752T>G (p.Asp1584Glu) c.4464T>G (p.Asp1488Glu) c.1992T>G (p.Asp664Glu) | |
19 | g.35730078G>A | CA405419209 | KMT2B | c.4963G>A (p.Asp1655Asn) c.2570G>A (n.2570G>A) c.247G>A (p.Asp83Asn) c.455G>A n.182G>A c.250G>A (p.Asp84Asn) c.4571G>A c.5029G>A (p.Asp1677Asn) c.2351G>A c.4753G>A (p.Asp1585Asn) c.4465G>A (p.Asp1489Asn) c.1993G>A (p.Asp665Asn) | |
19 | g.35730078G>C | CA405419205 | KMT2B | c.4963G>C (p.Asp1655His) c.2570G>C (n.2570G>C) c.247G>C (p.Asp83His) c.455G>C n.182G>C c.250G>C (p.Asp84His) c.4571G>C c.5029G>C (p.Asp1677His) c.2351G>C c.4753G>C (p.Asp1585His) c.4465G>C (p.Asp1489His) c.1993G>C (p.Asp665His) | |
19 | g.35730078G>T | CA405419207 | KMT2B | c.4963G>T (p.Asp1655Tyr) c.2570G>T (n.2570G>T) c.247G>T (p.Asp83Tyr) c.455G>T n.182G>T c.250G>T (p.Asp84Tyr) c.4571G>T c.5029G>T (p.Asp1677Tyr) c.2351G>T c.4753G>T (p.Asp1585Tyr) c.4465G>T (p.Asp1489Tyr) c.1993G>T (p.Asp665Tyr) | |
19 | g.35730079A>C | CA405419212 | KMT2B | c.4964A>C (p.Asp1655Ala) c.2571A>C (n.2571A>C) c.248A>C (p.Asp83Ala) c.456A>C n.183A>C c.251A>C (p.Asp84Ala) c.4572A>C c.5030A>C (p.Asp1677Ala) c.2352A>C c.4754A>C (p.Asp1585Ala) c.4466A>C (p.Asp1489Ala) c.1994A>C (p.Asp665Ala) | |
19 | g.35730079A>G | CA405419214 | KMT2B | c.4964A>G (p.Asp1655Gly) c.2571A>G (n.2571A>G) c.248A>G (p.Asp83Gly) c.456A>G n.183A>G c.251A>G (p.Asp84Gly) c.4572A>G c.5030A>G (p.Asp1677Gly) c.2352A>G c.4754A>G (p.Asp1585Gly) c.4466A>G (p.Asp1489Gly) c.1994A>G (p.Asp665Gly) | |
19 | g.35730079A>T | CA405419216 | KMT2B | c.4964A>T (p.Asp1655Val) c.2571A>T (n.2571A>T) c.248A>T (p.Asp83Val) c.456A>T n.183A>T c.251A>T (p.Asp84Val) c.4572A>T c.5030A>T (p.Asp1677Val) c.2352A>T c.4754A>T (p.Asp1585Val) c.4466A>T (p.Asp1489Val) c.1994A>T (p.Asp665Val) | |
19 | g.35730080C>A | CA405419219 | KMT2B | c.4965C>A (p.Asp1655Glu) c.2572C>A (n.2572C>A) c.249C>A (p.Asp83Glu) c.457C>A n.184C>A c.252C>A (p.Asp84Glu) c.4573C>A c.5031C>A (p.Asp1677Glu) c.2353C>A c.4755C>A (p.Asp1585Glu) c.4467C>A (p.Asp1489Glu) c.1995C>A (p.Asp665Glu) | |
19 | g.35730080C>G | CA405419220 | KMT2B | c.4965C>G (p.Asp1655Glu) c.2572C>G (n.2572C>G) c.249C>G (p.Asp83Glu) c.457C>G n.184C>G c.252C>G (p.Asp84Glu) c.4573C>G c.5031C>G (p.Asp1677Glu) c.2353C>G c.4755C>G (p.Asp1585Glu) c.4467C>G (p.Asp1489Glu) c.1995C>G (p.Asp665Glu) | |
19 | g.35730080C>T | CA507072684 | KMT2B | c.4965C>T (p.Asp1655=) c.2572C>T (n.2572C>T) c.249C>T (p.Asp83=) c.457C>T n.184C>T c.252C>T (p.Asp84=) c.4573C>T c.5031C>T (p.Asp1677=) c.2353C>T c.4755C>T (p.Asp1585=) c.4467C>T (p.Asp1489=) c.1995C>T (p.Asp665=) | |
19 | g.35730081A>C | CA405419223 | KMT2B | c.4966A>C (p.Lys1656Gln) c.2573A>C (n.2573A>C) c.250A>C (p.Lys84Gln) c.458A>C n.185A>C c.253A>C (p.Lys85Gln) c.4574A>C c.5032A>C (p.Lys1678Gln) c.2354A>C c.4756A>C (p.Lys1586Gln) c.4468A>C (p.Lys1490Gln) c.1996A>C (p.Lys666Gln) | |
19 | g.35730081A>G | CA405419226 | KMT2B | c.4966A>G (p.Lys1656Glu) c.2573A>G (n.2573A>G) c.250A>G (p.Lys84Glu) c.458A>G n.185A>G c.253A>G (p.Lys85Glu) c.4574A>G c.5032A>G (p.Lys1678Glu) c.2354A>G c.4756A>G (p.Lys1586Glu) c.4468A>G (p.Lys1490Glu) c.1996A>G (p.Lys666Glu) | |
19 | g.35730081A>T | CA405419228 | KMT2B | c.4966A>T (p.Lys1656Ter) c.2573A>T (n.2573A>T) c.250A>T (p.Lys84Ter) c.458A>T n.185A>T c.253A>T (p.Lys85Ter) c.4574A>T c.5032A>T (p.Lys1678Ter) c.2354A>T c.4756A>T (p.Lys1586Ter) c.4468A>T (p.Lys1490Ter) c.1996A>T (p.Lys666Ter) | |
19 | g.35730082A>C | CA405419232 | KMT2B | c.4967A>C (p.Lys1656Thr) c.2574A>C (n.2574A>C) c.251A>C (p.Lys84Thr) c.459A>C n.186A>C c.254A>C (p.Lys85Thr) c.4575A>C c.5033A>C (p.Lys1678Thr) c.2355A>C c.4757A>C (p.Lys1586Thr) c.4469A>C (p.Lys1490Thr) c.1997A>C (p.Lys666Thr) | |
19 | g.35730082A>G | CA405419235 | KMT2B | c.4967A>G (p.Lys1656Arg) c.2574A>G (n.2574A>G) c.251A>G (p.Lys84Arg) c.459A>G n.186A>G c.254A>G (p.Lys85Arg) c.4575A>G c.5033A>G (p.Lys1678Arg) c.2355A>G c.4757A>G (p.Lys1586Arg) c.4469A>G (p.Lys1490Arg) c.1997A>G (p.Lys666Arg) | |
19 | g.35730082A>T | CA405419238 | KMT2B | c.4967A>T (p.Lys1656Met) c.2574A>T (n.2574A>T) c.251A>T (p.Lys84Met) c.459A>T n.186A>T c.254A>T (p.Lys85Met) c.4575A>T c.5033A>T (p.Lys1678Met) c.2355A>T c.4757A>T (p.Lys1586Met) c.4469A>T (p.Lys1490Met) c.1997A>T (p.Lys666Met) | |
19 | g.35730083G>A | CA507072685 | KMT2B | c.4968G>A (p.Lys1656=) c.2575G>A (n.2575G>A) c.252G>A (p.Lys84=) c.460G>A n.187G>A c.255G>A (p.Lys85=) c.4576G>A c.5034G>A (p.Lys1678=) c.2356G>A c.4758G>A (p.Lys1586=) c.4470G>A (p.Lys1490=) c.1998G>A (p.Lys666=) | gnomAD v4 |
19 | g.35730083G>C | CA405419241 | KMT2B | c.4968G>C (p.Lys1656Asn) c.2575G>C (n.2575G>C) c.252G>C (p.Lys84Asn) c.460G>C n.187G>C c.255G>C (p.Lys85Asn) c.4576G>C c.5034G>C (p.Lys1678Asn) c.2356G>C c.4758G>C (p.Lys1586Asn) c.4470G>C (p.Lys1490Asn) c.1998G>C (p.Lys666Asn) | COSMIC |
19 | g.35730083G>T | CA405419243 | KMT2B | c.4968G>T (p.Lys1656Asn) c.2575G>T (n.2575G>T) c.252G>T (p.Lys84Asn) c.460G>T n.187G>T c.255G>T (p.Lys85Asn) c.4576G>T c.5034G>T (p.Lys1678Asn) c.2356G>T c.4758G>T (p.Lys1586Asn) c.4470G>T (p.Lys1490Asn) c.1998G>T (p.Lys666Asn) | |
19 | g.35730084A>C | CA405419246 | KMT2B | c.4969A>C (p.Lys1657Gln) c.2576A>C (n.2576A>C) c.253A>C (p.Lys85Gln) c.461A>C n.188A>C c.256A>C (p.Lys86Gln) c.4577A>C c.5035A>C (p.Lys1679Gln) c.2357A>C c.4759A>C (p.Lys1587Gln) c.4471A>C (p.Lys1491Gln) c.1999A>C (p.Lys667Gln) | |
19 | g.35730084A>G | CA405419248 | KMT2B | c.4969A>G (p.Lys1657Glu) c.2576A>G (n.2576A>G) c.253A>G (p.Lys85Glu) c.461A>G n.188A>G c.256A>G (p.Lys86Glu) c.4577A>G c.5035A>G (p.Lys1679Glu) c.2357A>G c.4759A>G (p.Lys1587Glu) c.4471A>G (p.Lys1491Glu) c.1999A>G (p.Lys667Glu) | ClinVar |
19 | g.35730084A>T | CA405419250 | KMT2B | c.4969A>T (p.Lys1657Ter) c.2576A>T (n.2576A>T) c.253A>T (p.Lys85Ter) c.461A>T n.188A>T c.256A>T (p.Lys86Ter) c.4577A>T c.5035A>T (p.Lys1679Ter) c.2357A>T c.4759A>T (p.Lys1587Ter) c.4471A>T (p.Lys1491Ter) c.1999A>T (p.Lys667Ter) | |
19 | g.35730086dup | CA2841614528 | KMT2B | c.4971dup (p.Val1658SerfsTer8) c.2578dup (n.2578dup) c.255dup (p.Val86SerfsTer8) c.463dup n.190dup c.258dup (p.Val87SerfsTer8) c.4579dup c.5037dup (p.Val1680SerfsTer8) c.2359dup c.4761dup (p.Val1588SerfsTer8) c.4473dup (p.Val1492SerfsTer8) c.2001dup (p.Val668SerfsTer8) |