Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.35730085A>C | CA405419254 | KMT2B | c.4970A>C (p.Lys1657Thr) c.2577A>C (n.2577A>C) c.254A>C (p.Lys85Thr) c.462A>C n.189A>C c.257A>C (p.Lys86Thr) c.4578A>C c.5036A>C (p.Lys1679Thr) c.2358A>C c.4760A>C (p.Lys1587Thr) c.4472A>C (p.Lys1491Thr) c.2000A>C (p.Lys667Thr) | |
19 | g.35730085A>G | CA405419256 | KMT2B | c.4970A>G (p.Lys1657Arg) c.2577A>G (n.2577A>G) c.254A>G (p.Lys85Arg) c.462A>G n.189A>G c.257A>G (p.Lys86Arg) c.4578A>G c.5036A>G (p.Lys1679Arg) c.2358A>G c.4760A>G (p.Lys1587Arg) c.4472A>G (p.Lys1491Arg) c.2000A>G (p.Lys667Arg) | |
19 | g.35730085A>T | CA405419257 | KMT2B | c.4970A>T (p.Lys1657Ile) c.2577A>T (n.2577A>T) c.254A>T (p.Lys85Ile) c.462A>T n.189A>T c.257A>T (p.Lys86Ile) c.4578A>T c.5036A>T (p.Lys1679Ile) c.2358A>T c.4760A>T (p.Lys1587Ile) c.4472A>T (p.Lys1491Ile) c.2000A>T (p.Lys667Ile) | |
19 | g.35730086A= | CA2333793107 | KMT2B | c.4971A= (p.Lys1657=) c.2578A= (n.2578A=) c.255A= (p.Lys85=) c.463A= n.190A= c.258A= (p.Lys86=) c.4579A= c.5037A= (p.Lys1679=) c.2359A= c.4761A= (p.Lys1587=) c.4473A= (p.Lys1491=) c.2001A= (p.Lys667=) | |
19 | g.35730086A>C | CA405419259 | KMT2B | c.4971A>C (p.Lys1657Asn) c.2578A>C (n.2578A>C) c.255A>C (p.Lys85Asn) c.463A>C n.190A>C c.258A>C (p.Lys86Asn) c.4579A>C c.5037A>C (p.Lys1679Asn) c.2359A>C c.4761A>C (p.Lys1587Asn) c.4473A>C (p.Lys1491Asn) c.2001A>C (p.Lys667Asn) | |
19 | g.35730086A>G | CA507072686 | KMT2B | c.4971A>G (p.Lys1657=) c.2578A>G (n.2578A>G) c.255A>G (p.Lys85=) c.463A>G n.190A>G c.258A>G (p.Lys86=) c.4579A>G c.5037A>G (p.Lys1679=) c.2359A>G c.4761A>G (p.Lys1587=) c.4473A>G (p.Lys1491=) c.2001A>G (p.Lys667=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730086A>T | CA405419262 | KMT2B | c.4971A>T (p.Lys1657Asn) c.2578A>T (n.2578A>T) c.255A>T (p.Lys85Asn) c.463A>T n.190A>T c.258A>T (p.Lys86Asn) c.4579A>T c.5037A>T (p.Lys1679Asn) c.2359A>T c.4761A>T (p.Lys1587Asn) c.4473A>T (p.Lys1491Asn) c.2001A>T (p.Lys667Asn) | |
19 | g.35730087G>A | CA405419265 | KMT2B | c.4972G>A (p.Val1658Ile) c.2579G>A (n.2579G>A) c.256G>A (p.Val86Ile) c.464G>A n.191G>A c.259G>A (p.Val87Ile) c.4580G>A c.5038G>A (p.Val1680Ile) c.2360G>A c.4762G>A (p.Val1588Ile) c.4474G>A (p.Val1492Ile) c.2002G>A (p.Val668Ile) | |
19 | g.35730087G>C | CA405419267 | KMT2B | c.4972G>C (p.Val1658Leu) c.2579G>C (n.2579G>C) c.256G>C (p.Val86Leu) c.464G>C n.191G>C c.259G>C (p.Val87Leu) c.4580G>C c.5038G>C (p.Val1680Leu) c.2360G>C c.4762G>C (p.Val1588Leu) c.4474G>C (p.Val1492Leu) c.2002G>C (p.Val668Leu) | |
19 | g.35730087G>T | CA405419268 | KMT2B | c.4972G>T (p.Val1658Phe) c.2579G>T (n.2579G>T) c.256G>T (p.Val86Phe) c.464G>T n.191G>T c.259G>T (p.Val87Phe) c.4580G>T c.5038G>T (p.Val1680Phe) c.2360G>T c.4762G>T (p.Val1588Phe) c.4474G>T (p.Val1492Phe) c.2002G>T (p.Val668Phe) | |
19 | g.35730088T>A | CA405419277 | KMT2B | c.4973T>A (p.Val1658Asp) c.2580T>A (n.2580T>A) c.257T>A (p.Val86Asp) c.465T>A n.192T>A c.260T>A (p.Val87Asp) c.4581T>A c.5039T>A (p.Val1680Asp) c.2361T>A c.4763T>A (p.Val1588Asp) c.4475T>A (p.Val1492Asp) c.2003T>A (p.Val668Asp) | |
19 | g.35730088T>C | CA405419274 | KMT2B | c.4973T>C (p.Val1658Ala) c.2580T>C (n.2580T>C) c.257T>C (p.Val86Ala) c.465T>C n.192T>C c.260T>C (p.Val87Ala) c.4581T>C c.5039T>C (p.Val1680Ala) c.2361T>C c.4763T>C (p.Val1588Ala) c.4475T>C (p.Val1492Ala) c.2003T>C (p.Val668Ala) | gnomAD v4 |
19 | g.35730088T>G | CA405419272 | KMT2B | c.4973T>G (p.Val1658Gly) c.2580T>G (n.2580T>G) c.257T>G (p.Val86Gly) c.465T>G n.192T>G c.260T>G (p.Val87Gly) c.4581T>G c.5039T>G (p.Val1680Gly) c.2361T>G c.4763T>G (p.Val1588Gly) c.4475T>G (p.Val1492Gly) c.2003T>G (p.Val668Gly) | |
19 | g.35730089C>A | CA507072687 | KMT2B | c.4974C>A (p.Val1658=) c.2581C>A (n.2581C>A) c.258C>A (p.Val86=) c.466C>A n.193C>A c.261C>A (p.Val87=) c.4582C>A c.5040C>A (p.Val1680=) c.2362C>A c.4764C>A (p.Val1588=) c.4476C>A (p.Val1492=) c.2004C>A (p.Val668=) | |
19 | g.35730089C= | CA2333793108 | KMT2B | c.4974C= (p.Val1658=) c.2581C= (n.2581C=) c.258C= (p.Val86=) c.466C= n.193C= c.261C= (p.Val87=) c.4582C= c.5040C= (p.Val1680=) c.2362C= c.4764C= (p.Val1588=) c.4476C= (p.Val1492=) c.2004C= (p.Val668=) | |
19 | g.35730089C>G | CA9385274 | KMT2B | c.4974C>G (p.Val1658=) c.2581C>G (n.2581C>G) c.258C>G (p.Val86=) c.466C>G n.193C>G c.261C>G (p.Val87=) c.4582C>G c.5040C>G (p.Val1680=) c.2362C>G c.4764C>G (p.Val1588=) c.4476C>G (p.Val1492=) c.2004C>G (p.Val668=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730089C>T | CA307792962 | KMT2B | c.4974C>T (p.Val1658=) c.2581C>T (n.2581C>T) c.258C>T (p.Val86=) c.466C>T n.193C>T c.261C>T (p.Val87=) c.4582C>T c.5040C>T (p.Val1680=) c.2362C>T c.4764C>T (p.Val1588=) c.4476C>T (p.Val1492=) c.2004C>T (p.Val668=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35730090T>A | CA405419281 | KMT2B | c.4975T>A (p.Phe1659Ile) c.2582T>A (n.2582T>A) c.259T>A (p.Phe87Ile) c.467T>A n.194T>A c.262T>A (p.Phe88Ile) c.4583T>A c.5041T>A (p.Phe1681Ile) c.2363T>A c.4765T>A (p.Phe1589Ile) c.4477T>A (p.Phe1493Ile) c.2005T>A (p.Phe669Ile) | |
19 | g.35730090T>C | CA405419282 | KMT2B | c.4975T>C (p.Phe1659Leu) c.2582T>C (n.2582T>C) c.259T>C (p.Phe87Leu) c.467T>C n.194T>C c.262T>C (p.Phe88Leu) c.4583T>C c.5041T>C (p.Phe1681Leu) c.2363T>C c.4765T>C (p.Phe1589Leu) c.4477T>C (p.Phe1493Leu) c.2005T>C (p.Phe669Leu) | |
19 | g.35730090T>G | CA405419283 | KMT2B | c.4975T>G (p.Phe1659Val) c.2582T>G (n.2582T>G) c.259T>G (p.Phe87Val) c.467T>G n.194T>G c.262T>G (p.Phe88Val) c.4583T>G c.5041T>G (p.Phe1681Val) c.2363T>G c.4765T>G (p.Phe1589Val) c.4477T>G (p.Phe1493Val) c.2005T>G (p.Phe669Val) | |
19 | g.35730091T>A | CA405419284 | KMT2B | c.4976T>A (p.Phe1659Tyr) c.2583T>A (n.2583T>A) c.260T>A (p.Phe87Tyr) c.468T>A n.195T>A c.263T>A (p.Phe88Tyr) c.4584T>A c.5042T>A (p.Phe1681Tyr) c.2364T>A c.4766T>A (p.Phe1589Tyr) c.4478T>A (p.Phe1493Tyr) c.2006T>A (p.Phe669Tyr) | |
19 | g.35730091T>C | CA405419285 | KMT2B | c.4976T>C (p.Phe1659Ser) c.2583T>C (n.2583T>C) c.260T>C (p.Phe87Ser) c.468T>C n.195T>C c.263T>C (p.Phe88Ser) c.4584T>C c.5042T>C (p.Phe1681Ser) c.2364T>C c.4766T>C (p.Phe1589Ser) c.4478T>C (p.Phe1493Ser) c.2006T>C (p.Phe669Ser) | |
19 | g.35730091T>G | CA405419286 | KMT2B | c.4976T>G (p.Phe1659Cys) c.2583T>G (n.2583T>G) c.260T>G (p.Phe87Cys) c.468T>G n.195T>G c.263T>G (p.Phe88Cys) c.4584T>G c.5042T>G (p.Phe1681Cys) c.2364T>G c.4766T>G (p.Phe1589Cys) c.4478T>G (p.Phe1493Cys) c.2006T>G (p.Phe669Cys) | |
19 | g.35730092C>A | CA405419287 | KMT2B | c.4977C>A (p.Phe1659Leu) c.2584C>A (n.2584C>A) c.261C>A (p.Phe87Leu) c.469C>A n.196C>A c.264C>A (p.Phe88Leu) c.4585C>A c.5043C>A (p.Phe1681Leu) c.2365C>A c.4767C>A (p.Phe1589Leu) c.4479C>A (p.Phe1493Leu) c.2007C>A (p.Phe669Leu) | COSMIC |
19 | g.35730092C>G | CA405419288 | KMT2B | c.4977C>G (p.Phe1659Leu) c.2584C>G (n.2584C>G) c.261C>G (p.Phe87Leu) c.469C>G n.196C>G c.264C>G (p.Phe88Leu) c.4585C>G c.5043C>G (p.Phe1681Leu) c.2365C>G c.4767C>G (p.Phe1589Leu) c.4479C>G (p.Phe1493Leu) c.2007C>G (p.Phe669Leu) | |
19 | g.35730092C>T | CA507072688 | KMT2B | c.4977C>T (p.Phe1659=) c.2584C>T (n.2584C>T) c.261C>T (p.Phe87=) c.469C>T n.196C>T c.264C>T (p.Phe88=) c.4585C>T c.5043C>T (p.Phe1681=) c.2365C>T c.4767C>T (p.Phe1589=) c.4479C>T (p.Phe1493=) c.2007C>T (p.Phe669=) | |
19 | g.35730093T>A | CA405419289 | KMT2B | c.4978T>A (p.Cys1660Ser) c.2585T>A (n.2585T>A) c.262T>A (p.Cys88Ser) c.470T>A n.197T>A c.265T>A (p.Cys89Ser) c.4586T>A c.5044T>A (p.Cys1682Ser) c.2366T>A c.4768T>A (p.Cys1590Ser) c.4480T>A (p.Cys1494Ser) c.2008T>A (p.Cys670Ser) | |
19 | g.35730093T>C | CA405419290 | KMT2B | c.4978T>C (p.Cys1660Arg) c.2585T>C (n.2585T>C) c.262T>C (p.Cys88Arg) c.470T>C n.197T>C c.265T>C (p.Cys89Arg) c.4586T>C c.5044T>C (p.Cys1682Arg) c.2366T>C c.4768T>C (p.Cys1590Arg) c.4480T>C (p.Cys1494Arg) c.2008T>C (p.Cys670Arg) | |
19 | g.35730093T>G | CA405419291 | KMT2B | c.4978T>G (p.Cys1660Gly) c.2585T>G (n.2585T>G) c.262T>G (p.Cys88Gly) c.470T>G n.197T>G c.265T>G (p.Cys89Gly) c.4586T>G c.5044T>G (p.Cys1682Gly) c.2366T>G c.4768T>G (p.Cys1590Gly) c.4480T>G (p.Cys1494Gly) c.2008T>G (p.Cys670Gly) | |
19 | g.35730094G>A | CA405419294 | KMT2B | c.4979G>A (p.Cys1660Tyr) c.2586G>A (n.2586G>A) c.263G>A (p.Cys88Tyr) c.471G>A n.198G>A c.266G>A (p.Cys89Tyr) c.4587G>A c.5045G>A (p.Cys1682Tyr) c.2367G>A c.4769G>A (p.Cys1590Tyr) c.4481G>A (p.Cys1494Tyr) c.2009G>A (p.Cys670Tyr) | COSMIC |
19 | g.35730094G>C | CA405419292 | KMT2B | c.4979G>C (p.Cys1660Ser) c.2586G>C (n.2586G>C) c.263G>C (p.Cys88Ser) c.471G>C n.198G>C c.266G>C (p.Cys89Ser) c.4587G>C c.5045G>C (p.Cys1682Ser) c.2367G>C c.4769G>C (p.Cys1590Ser) c.4481G>C (p.Cys1494Ser) c.2009G>C (p.Cys670Ser) | |
19 | g.35730094G>T | CA405419293 | KMT2B | c.4979G>T (p.Cys1660Phe) c.2586G>T (n.2586G>T) c.263G>T (p.Cys88Phe) c.471G>T n.198G>T c.266G>T (p.Cys89Phe) c.4587G>T c.5045G>T (p.Cys1682Phe) c.2367G>T c.4769G>T (p.Cys1590Phe) c.4481G>T (p.Cys1494Phe) c.2009G>T (p.Cys670Phe) | |
19 | g.35730095C>A | CA405419295 | KMT2B | c.4980C>A (p.Cys1660Ter) c.2587C>A (n.2587C>A) c.264C>A (p.Cys88Ter) c.472C>A n.199C>A c.267C>A (p.Cys89Ter) c.4588C>A c.5046C>A (p.Cys1682Ter) c.2368C>A c.4770C>A (p.Cys1590Ter) c.4482C>A (p.Cys1494Ter) c.2010C>A (p.Cys670Ter) | |
19 | g.35730095C= | CA2333793109 | KMT2B | c.4980C= (p.Cys1660=) c.2587C= (n.2587C=) c.264C= (p.Cys88=) c.472C= n.199C= c.267C= (p.Cys89=) c.4588C= c.5046C= (p.Cys1682=) c.2368C= c.4770C= (p.Cys1590=) c.4482C= (p.Cys1494=) c.2010C= (p.Cys670=) | |
19 | g.35730095C>G | CA405419296 | KMT2B | c.4980C>G (p.Cys1660Trp) c.2587C>G (n.2587C>G) c.264C>G (p.Cys88Trp) c.472C>G n.199C>G c.267C>G (p.Cys89Trp) c.4588C>G c.5046C>G (p.Cys1682Trp) c.2368C>G c.4770C>G (p.Cys1590Trp) c.4482C>G (p.Cys1494Trp) c.2010C>G (p.Cys670Trp) | |
19 | g.35730095C>T | CA9385275 | KMT2B | c.4980C>T (p.Cys1660=) c.2587C>T (n.2587C>T) c.264C>T (p.Cys88=) c.472C>T n.199C>T c.267C>T (p.Cys89=) c.4588C>T c.5046C>T (p.Cys1682=) c.2368C>T c.4770C>T (p.Cys1590=) c.4482C>T (p.Cys1494=) c.2010C>T (p.Cys670=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730096C>A | CA405419297 | KMT2B | c.4981C>A (p.Gln1661Lys) c.2588C>A (n.2588C>A) c.265C>A (p.Gln89Lys) c.473C>A n.200C>A c.268C>A (p.Gln90Lys) c.4589C>A c.5047C>A (p.Gln1683Lys) c.2369C>A c.4771C>A (p.Gln1591Lys) c.4483C>A (p.Gln1495Lys) c.2011C>A (p.Gln671Lys) | |
19 | g.35730096C>G | CA405419298 | KMT2B | c.4981C>G (p.Gln1661Glu) c.2588C>G (n.2588C>G) c.265C>G (p.Gln89Glu) c.473C>G n.200C>G c.268C>G (p.Gln90Glu) c.4589C>G c.5047C>G (p.Gln1683Glu) c.2369C>G c.4771C>G (p.Gln1591Glu) c.4483C>G (p.Gln1495Glu) c.2011C>G (p.Gln671Glu) | |
19 | g.35730096C>T | CA405419299 | KMT2B | c.4981C>T (p.Gln1661Ter) c.2588C>T (n.2588C>T) c.265C>T (p.Gln89Ter) c.473C>T n.200C>T c.268C>T (p.Gln90Ter) c.4589C>T c.5047C>T (p.Gln1683Ter) c.2369C>T c.4771C>T (p.Gln1591Ter) c.4483C>T (p.Gln1495Ter) c.2011C>T (p.Gln671Ter) | COSMIC |
19 | g.35730097A= | CA2333793110 | KMT2B | c.4982A= (p.Gln1661=) c.2589A= (n.2589A=) c.266A= (p.Gln89=) c.474A= n.201A= c.269A= (p.Gln90=) c.4590A= c.5048A= (p.Gln1683=) c.2370A= c.4772A= (p.Gln1591=) c.4484A= (p.Gln1495=) c.2012A= (p.Gln671=) | |
19 | g.35730097A>C | CA405419300 | KMT2B | c.4982A>C (p.Gln1661Pro) c.2589A>C (n.2589A>C) c.266A>C (p.Gln89Pro) c.474A>C n.201A>C c.269A>C (p.Gln90Pro) c.4590A>C c.5048A>C (p.Gln1683Pro) c.2370A>C c.4772A>C (p.Gln1591Pro) c.4484A>C (p.Gln1495Pro) c.2012A>C (p.Gln671Pro) | |
19 | g.35730097A>G | CA9385276 | KMT2B | c.4982A>G (p.Gln1661Arg) c.2589A>G (n.2589A>G) c.266A>G (p.Gln89Arg) c.474A>G n.201A>G c.269A>G (p.Gln90Arg) c.4590A>G c.5048A>G (p.Gln1683Arg) c.2370A>G c.4772A>G (p.Gln1591Arg) c.4484A>G (p.Gln1495Arg) c.2012A>G (p.Gln671Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730097A>T | CA405419301 | KMT2B | c.4982A>T (p.Gln1661Leu) c.2589A>T (n.2589A>T) c.266A>T (p.Gln89Leu) c.474A>T n.201A>T c.269A>T (p.Gln90Leu) c.4590A>T c.5048A>T (p.Gln1683Leu) c.2370A>T c.4772A>T (p.Gln1591Leu) c.4484A>T (p.Gln1495Leu) c.2012A>T (p.Gln671Leu) | |
19 | g.35730098G>A | CA307792993 | KMT2B | c.4983G>A (p.Gln1661=) c.2590G>A (n.2590G>A) c.267G>A (p.Gln89=) c.475G>A n.202G>A c.270G>A (p.Gln90=) c.4591G>A c.5049G>A (p.Gln1683=) c.2371G>A c.4773G>A (p.Gln1591=) c.4485G>A (p.Gln1495=) c.2013G>A (p.Gln671=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730098G>C | CA405419302 | KMT2B | c.4983G>C (p.Gln1661His) c.2590G>C (n.2590G>C) c.267G>C (p.Gln89His) c.475G>C n.202G>C c.270G>C (p.Gln90His) c.4591G>C c.5049G>C (p.Gln1683His) c.2371G>C c.4773G>C (p.Gln1591His) c.4485G>C (p.Gln1495His) c.2013G>C (p.Gln671His) | |
19 | g.35730098G= | CA2333793111 | KMT2B | c.4983G= (p.Gln1661=) c.2590G= (n.2590G=) c.267G= (p.Gln89=) c.475G= n.202G= c.270G= (p.Gln90=) c.4591G= c.5049G= (p.Gln1683=) c.2371G= c.4773G= (p.Gln1591=) c.4485G= (p.Gln1495=) c.2013G= (p.Gln671=) | |
19 | g.35730098G>T | CA405419303 | KMT2B | c.4983G>T (p.Gln1661His) c.2590G>T (n.2590G>T) c.267G>T (p.Gln89His) c.475G>T n.202G>T c.270G>T (p.Gln90His) c.4591G>T c.5049G>T (p.Gln1683His) c.2371G>T c.4773G>T (p.Gln1591His) c.4485G>T (p.Gln1495His) c.2013G>T (p.Gln671His) | |
19 | g.35730099A>C | CA405419305 | KMT2B | c.4984A>C (p.Lys1662Gln) c.2591A>C (n.2591A>C) c.268A>C (p.Lys90Gln) c.476A>C n.203A>C c.271A>C (p.Lys91Gln) c.4592A>C c.5050A>C (p.Lys1684Gln) c.2372A>C c.4774A>C (p.Lys1592Gln) c.4486A>C (p.Lys1496Gln) c.2014A>C (p.Lys672Gln) | |
19 | g.35730099A>G | CA405419306 | KMT2B | c.4984A>G (p.Lys1662Glu) c.2591A>G (n.2591A>G) c.268A>G (p.Lys90Glu) c.476A>G n.203A>G c.271A>G (p.Lys91Glu) c.4592A>G c.5050A>G (p.Lys1684Glu) c.2372A>G c.4774A>G (p.Lys1592Glu) c.4486A>G (p.Lys1496Glu) c.2014A>G (p.Lys672Glu) | |
19 | g.35730099A>T | CA405419304 | KMT2B | c.4984A>T (p.Lys1662Ter) c.2591A>T (n.2591A>T) c.268A>T (p.Lys90Ter) c.476A>T n.203A>T c.271A>T (p.Lys91Ter) c.4592A>T c.5050A>T (p.Lys1684Ter) c.2372A>T c.4774A>T (p.Lys1592Ter) c.4486A>T (p.Lys1496Ter) c.2014A>T (p.Lys672Ter) | |
19 | g.35730100A>C | CA405419309 | KMT2B | c.4985A>C (p.Lys1662Thr) c.2592A>C (n.2592A>C) c.269A>C (p.Lys90Thr) c.477A>C n.204A>C c.272A>C (p.Lys91Thr) c.4593A>C c.5051A>C (p.Lys1684Thr) c.2373A>C c.4775A>C (p.Lys1592Thr) c.4487A>C (p.Lys1496Thr) c.2015A>C (p.Lys672Thr) | |
19 | g.35730100A>G | CA405419307 | KMT2B | c.4985A>G (p.Lys1662Arg) c.2592A>G (n.2592A>G) c.269A>G (p.Lys90Arg) c.477A>G n.204A>G c.272A>G (p.Lys91Arg) c.4593A>G c.5051A>G (p.Lys1684Arg) c.2373A>G c.4775A>G (p.Lys1592Arg) c.4487A>G (p.Lys1496Arg) c.2015A>G (p.Lys672Arg) | |
19 | g.35730100A>T | CA405419308 | KMT2B | c.4985A>T (p.Lys1662Ile) c.2592A>T (n.2592A>T) c.269A>T (p.Lys90Ile) c.477A>T n.204A>T c.272A>T (p.Lys91Ile) c.4593A>T c.5051A>T (p.Lys1684Ile) c.2373A>T c.4775A>T (p.Lys1592Ile) c.4487A>T (p.Lys1496Ile) c.2015A>T (p.Lys672Ile) | |
19 | g.35730101A>C | CA405419310 | KMT2B | c.4986A>C (p.Lys1662Asn) c.2593A>C (n.2593A>C) c.270A>C (p.Lys90Asn) c.478A>C n.205A>C c.273A>C (p.Lys91Asn) c.4594A>C c.5052A>C (p.Lys1684Asn) c.2374A>C c.4776A>C (p.Lys1592Asn) c.4488A>C (p.Lys1496Asn) c.2016A>C (p.Lys672Asn) | |
19 | g.35730101A>G | CA507072689 | KMT2B | c.4986A>G (p.Lys1662=) c.2593A>G (n.2593A>G) c.270A>G (p.Lys90=) c.478A>G n.205A>G c.273A>G (p.Lys91=) c.4594A>G c.5052A>G (p.Lys1684=) c.2374A>G c.4776A>G (p.Lys1592=) c.4488A>G (p.Lys1496=) c.2016A>G (p.Lys672=) | |
19 | g.35730101A>T | CA405419311 | KMT2B | c.4986A>T (p.Lys1662Asn) c.2593A>T (n.2593A>T) c.270A>T (p.Lys90Asn) c.478A>T n.205A>T c.273A>T (p.Lys91Asn) c.4594A>T c.5052A>T (p.Lys1684Asn) c.2374A>T c.4776A>T (p.Lys1592Asn) c.4488A>T (p.Lys1496Asn) c.2016A>T (p.Lys672Asn) | |
19 | g.35730102C>A | CA405419312 | KMT2B | c.4987C>A (p.His1663Asn) c.2594C>A (n.2594C>A) c.271C>A (p.His91Asn) c.479C>A n.206C>A c.274C>A (p.His92Asn) c.4595C>A c.5053C>A (p.His1685Asn) c.2375C>A c.4777C>A (p.His1593Asn) c.4489C>A (p.His1497Asn) c.2017C>A (p.His673Asn) | |
19 | g.35730102C>G | CA405419313 | KMT2B | c.4987C>G (p.His1663Asp) c.2594C>G (n.2594C>G) c.271C>G (p.His91Asp) c.479C>G n.206C>G c.274C>G (p.His92Asp) c.4595C>G c.5053C>G (p.His1685Asp) c.2375C>G c.4777C>G (p.His1593Asp) c.4489C>G (p.His1497Asp) c.2017C>G (p.His673Asp) | |
19 | g.35730102C>T | CA405419314 | KMT2B | c.4987C>T (p.His1663Tyr) c.2594C>T (n.2594C>T) c.271C>T (p.His91Tyr) c.479C>T n.206C>T c.274C>T (p.His92Tyr) c.4595C>T c.5053C>T (p.His1685Tyr) c.2375C>T c.4777C>T (p.His1593Tyr) c.4489C>T (p.His1497Tyr) c.2017C>T (p.His673Tyr) | |
19 | g.35730103A>C | CA405419315 | KMT2B | c.4988A>C (p.His1663Pro) c.2595A>C (n.2595A>C) c.272A>C (p.His91Pro) c.480A>C n.207A>C c.275A>C (p.His92Pro) c.4596A>C c.5054A>C (p.His1685Pro) c.2376A>C c.4778A>C (p.His1593Pro) c.4490A>C (p.His1497Pro) c.2018A>C (p.His673Pro) | |
19 | g.35730103A>G | CA405419316 | KMT2B | c.4988A>G (p.His1663Arg) c.2595A>G (n.2595A>G) c.272A>G (p.His91Arg) c.480A>G n.207A>G c.275A>G (p.His92Arg) c.4596A>G c.5054A>G (p.His1685Arg) c.2376A>G c.4778A>G (p.His1593Arg) c.4490A>G (p.His1497Arg) c.2018A>G (p.His673Arg) | COSMIC |
19 | g.35730103A>T | CA405419317 | KMT2B | c.4988A>T (p.His1663Leu) c.2595A>T (n.2595A>T) c.272A>T (p.His91Leu) c.480A>T n.207A>T c.275A>T (p.His92Leu) c.4596A>T c.5054A>T (p.His1685Leu) c.2376A>T c.4778A>T (p.His1593Leu) c.4490A>T (p.His1497Leu) c.2018A>T (p.His673Leu) | ClinVar |
19 | g.35730104C>A | CA405419318 | KMT2B | c.4989C>A (p.His1663Gln) c.2596C>A (n.2596C>A) c.273C>A (p.His91Gln) c.481C>A n.208C>A c.276C>A (p.His92Gln) c.4597C>A c.5055C>A (p.His1685Gln) c.2377C>A c.4779C>A (p.His1593Gln) c.4491C>A (p.His1497Gln) c.2019C>A (p.His673Gln) | |
19 | g.35730104C>G | CA405419319 | KMT2B | c.4989C>G (p.His1663Gln) c.2596C>G (n.2596C>G) c.273C>G (p.His91Gln) c.481C>G n.208C>G c.276C>G (p.His92Gln) c.4597C>G c.5055C>G (p.His1685Gln) c.2377C>G c.4779C>G (p.His1593Gln) c.4491C>G (p.His1497Gln) c.2019C>G (p.His673Gln) | |
19 | g.35730104C>T | CA507072690 | KMT2B | c.4989C>T (p.His1663=) c.2596C>T (n.2596C>T) c.273C>T (p.His91=) c.481C>T n.208C>T c.276C>T (p.His92=) c.4597C>T c.5055C>T (p.His1685=) c.2377C>T c.4779C>T (p.His1593=) c.4491C>T (p.His1497=) c.2019C>T (p.His673=) | |
19 | g.35730105A= | CA2333793112 | KMT2B | c.4990A= (p.Thr1664=) c.2597A= (n.2597A=) c.274A= (p.Thr92=) c.482A= n.209A= c.277A= (p.Thr93=) c.4598A= c.5056A= (p.Thr1686=) c.2378A= c.4780A= (p.Thr1594=) c.4492A= (p.Thr1498=) c.2020A= (p.Thr674=) | |
19 | g.35730105A>C | CA405419322 | KMT2B | c.4990A>C (p.Thr1664Pro) c.2597A>C (n.2597A>C) c.274A>C (p.Thr92Pro) c.482A>C n.209A>C c.277A>C (p.Thr93Pro) c.4598A>C c.5056A>C (p.Thr1686Pro) c.2378A>C c.4780A>C (p.Thr1594Pro) c.4492A>C (p.Thr1498Pro) c.2020A>C (p.Thr674Pro) | |
19 | g.35730105A>G | CA405419320 | KMT2B | c.4990A>G (p.Thr1664Ala) c.2597A>G (n.2597A>G) c.274A>G (p.Thr92Ala) c.482A>G n.209A>G c.277A>G (p.Thr93Ala) c.4598A>G c.5056A>G (p.Thr1686Ala) c.2378A>G c.4780A>G (p.Thr1594Ala) c.4492A>G (p.Thr1498Ala) c.2020A>G (p.Thr674Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35730105A>T | CA405419321 | KMT2B | c.4990A>T (p.Thr1664Ser) c.2597A>T (n.2597A>T) c.274A>T (p.Thr92Ser) c.482A>T n.209A>T c.277A>T (p.Thr93Ser) c.4598A>T c.5056A>T (p.Thr1686Ser) c.2378A>T c.4780A>T (p.Thr1594Ser) c.4492A>T (p.Thr1498Ser) c.2020A>T (p.Thr674Ser) | |
19 | g.35730106C>A | CA405419323 | KMT2B | c.4991C>A (p.Thr1664Asn) c.2598C>A (n.2598C>A) c.275C>A (p.Thr92Asn) c.483C>A n.210C>A c.278C>A (p.Thr93Asn) c.4599C>A c.5057C>A (p.Thr1686Asn) c.2379C>A c.4781C>A (p.Thr1594Asn) c.4493C>A (p.Thr1498Asn) c.2021C>A (p.Thr674Asn) | |
19 | g.35730106C>G | CA405419324 | KMT2B | c.4991C>G (p.Thr1664Ser) c.2598C>G (n.2598C>G) c.275C>G (p.Thr92Ser) c.483C>G n.210C>G c.278C>G (p.Thr93Ser) c.4599C>G c.5057C>G (p.Thr1686Ser) c.2379C>G c.4781C>G (p.Thr1594Ser) c.4493C>G (p.Thr1498Ser) c.2021C>G (p.Thr674Ser) | |
19 | g.35730106C>T | CA405419325 | KMT2B | c.4991C>T (p.Thr1664Ile) c.2598C>T (n.2598C>T) c.275C>T (p.Thr92Ile) c.483C>T n.210C>T c.278C>T (p.Thr93Ile) c.4599C>T c.5057C>T (p.Thr1686Ile) c.2379C>T c.4781C>T (p.Thr1594Ile) c.4493C>T (p.Thr1498Ile) c.2021C>T (p.Thr674Ile) | gnomAD v4 |
19 | g.35730107T>A | CA9385277 | KMT2B | c.4992T>A (p.Thr1664=) c.2599T>A (n.2599T>A) c.276T>A (p.Thr92=) c.484T>A n.211T>A c.279T>A (p.Thr93=) c.4600T>A c.5058T>A (p.Thr1686=) c.2380T>A c.4782T>A (p.Thr1594=) c.4494T>A (p.Thr1498=) c.2022T>A (p.Thr674=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730107T>C | CA507072692 | KMT2B | c.4992T>C (p.Thr1664=) c.2599T>C (n.2599T>C) c.276T>C (p.Thr92=) c.484T>C n.211T>C c.279T>C (p.Thr93=) c.4600T>C c.5058T>C (p.Thr1686=) c.2380T>C c.4782T>C (p.Thr1594=) c.4494T>C (p.Thr1498=) c.2022T>C (p.Thr674=) | |
19 | g.35730107T>G | CA507072691 | KMT2B | c.4992T>G (p.Thr1664=) c.2599T>G (n.2599T>G) c.276T>G (p.Thr92=) c.484T>G n.211T>G c.279T>G (p.Thr93=) c.4600T>G c.5058T>G (p.Thr1686=) c.2380T>G c.4782T>G (p.Thr1594=) c.4494T>G (p.Thr1498=) c.2022T>G (p.Thr674=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35730107T= | CA2333793113 | KMT2B | c.4992T= (p.Thr1664=) c.2599T= (n.2599T=) c.276T= (p.Thr92=) c.484T= n.211T= c.279T= (p.Thr93=) c.4600T= c.5058T= (p.Thr1686=) c.2380T= c.4782T= (p.Thr1594=) c.4494T= (p.Thr1498=) c.2022T= (p.Thr674=) | |
19 | g.35730108G>A | CA405419326 | KMT2B | c.4993G>A (p.Asp1665Asn) c.2600G>A (n.2600G>A) c.277G>A (p.Asp93Asn) c.485G>A n.212G>A c.280G>A (p.Asp94Asn) c.4601G>A c.5059G>A (p.Asp1687Asn) c.2381G>A c.4783G>A (p.Asp1595Asn) c.4495G>A (p.Asp1499Asn) c.2023G>A (p.Asp675Asn) | COSMIC |
19 | g.35730108G>C | CA405419327 | KMT2B | c.4993G>C (p.Asp1665His) c.2600G>C (n.2600G>C) c.277G>C (p.Asp93His) c.485G>C n.212G>C c.280G>C (p.Asp94His) c.4601G>C c.5059G>C (p.Asp1687His) c.2381G>C c.4783G>C (p.Asp1595His) c.4495G>C (p.Asp1499His) c.2023G>C (p.Asp675His) | ClinVar |
19 | g.35730108G>T | CA405419328 | KMT2B | c.4993G>T (p.Asp1665Tyr) c.2600G>T (n.2600G>T) c.277G>T (p.Asp93Tyr) c.485G>T n.212G>T c.280G>T (p.Asp94Tyr) c.4601G>T c.5059G>T (p.Asp1687Tyr) c.2381G>T c.4783G>T (p.Asp1595Tyr) c.4495G>T (p.Asp1499Tyr) c.2023G>T (p.Asp675Tyr) | |
19 | g.35730109A>C | CA405419329 | KMT2B | c.4994A>C (p.Asp1665Ala) c.2601A>C (n.2601A>C) c.278A>C (p.Asp93Ala) c.486A>C n.213A>C c.281A>C (p.Asp94Ala) c.4602A>C c.5060A>C (p.Asp1687Ala) c.2382A>C c.4784A>C (p.Asp1595Ala) c.4496A>C (p.Asp1499Ala) c.2024A>C (p.Asp675Ala) | |
19 | g.35730109A>G | CA405419330 | KMT2B | c.4994A>G (p.Asp1665Gly) c.2601A>G (n.2601A>G) c.278A>G (p.Asp93Gly) c.486A>G n.213A>G c.281A>G (p.Asp94Gly) c.4602A>G c.5060A>G (p.Asp1687Gly) c.2382A>G c.4784A>G (p.Asp1595Gly) c.4496A>G (p.Asp1499Gly) c.2024A>G (p.Asp675Gly) | |
19 | g.35730109A>T | CA405419331 | KMT2B | c.4994A>T (p.Asp1665Val) c.2601A>T (n.2601A>T) c.278A>T (p.Asp93Val) c.486A>T n.213A>T c.281A>T (p.Asp94Val) c.4602A>T c.5060A>T (p.Asp1687Val) c.2382A>T c.4784A>T (p.Asp1595Val) c.4496A>T (p.Asp1499Val) c.2024A>T (p.Asp675Val) | |
19 | g.35730109dup | CA2580617442 | KMT2B | c.4994dup (p.Asp1665GlufsTer15) c.2601dup (n.2601dup) c.278dup (p.Asp93GlufsTer15) c.486dup n.213dup c.281dup (p.Asp94GlufsTer15) c.4602dup c.5060dup (p.Asp1687GlufsTer15) c.2382dup c.4784dup (p.Asp1595GlufsTer15) c.4496dup (p.Asp1499GlufsTer15) c.2024dup (p.Asp675GlufsTer15) | ClinVar |
19 | g.35730110T>A | CA405419332 | KMT2B | c.4995T>A (p.Asp1665Glu) c.2602T>A (n.2602T>A) c.279T>A (p.Asp93Glu) c.487T>A n.214T>A c.282T>A (p.Asp94Glu) c.4603T>A c.5061T>A (p.Asp1687Glu) c.2383T>A c.4785T>A (p.Asp1595Glu) c.4497T>A (p.Asp1499Glu) c.2025T>A (p.Asp675Glu) | gnomAD v4 |
19 | g.35730110T>C | CA307792997 | KMT2B | c.4995T>C (p.Asp1665=) c.2602T>C (n.2602T>C) c.279T>C (p.Asp93=) c.487T>C n.214T>C c.282T>C (p.Asp94=) c.4603T>C c.5061T>C (p.Asp1687=) c.2383T>C c.4785T>C (p.Asp1595=) c.4497T>C (p.Asp1499=) c.2025T>C (p.Asp675=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730110T>G | CA405419333 | KMT2B | c.4995T>G (p.Asp1665Glu) c.2602T>G (n.2602T>G) c.279T>G (p.Asp93Glu) c.487T>G n.214T>G c.282T>G (p.Asp94Glu) c.4603T>G c.5061T>G (p.Asp1687Glu) c.2383T>G c.4785T>G (p.Asp1595Glu) c.4497T>G (p.Asp1499Glu) c.2025T>G (p.Asp675Glu) | |
19 | g.35730110T= | CA2333793114 | KMT2B | c.4995T= (p.Asp1665=) c.2602T= (n.2602T=) c.279T= (p.Asp93=) c.487T= n.214T= c.282T= (p.Asp94=) c.4603T= c.5061T= (p.Asp1687=) c.2383T= c.4785T= (p.Asp1595=) c.4497T= (p.Asp1499=) c.2025T= (p.Asp675=) | |
19 | g.35730111C>A | CA405419335 | KMT2B | c.4996C>A (p.Leu1666Ile) c.2603C>A (n.2603C>A) c.280C>A (p.Leu94Ile) c.488C>A n.215C>A c.283C>A (p.Leu95Ile) c.4604C>A c.5062C>A (p.Leu1688Ile) c.2384C>A c.4786C>A (p.Leu1596Ile) c.4498C>A (p.Leu1500Ile) c.2026C>A (p.Leu676Ile) | |
19 | g.35730111C= | CA2333793115 | KMT2B | c.4996C= (p.Leu1666=) c.2603C= (n.2603C=) c.280C= (p.Leu94=) c.488C= n.215C= c.283C= (p.Leu95=) c.4604C= c.5062C= (p.Leu1688=) c.2384C= c.4786C= (p.Leu1596=) c.4498C= (p.Leu1500=) c.2026C= (p.Leu676=) | |
19 | g.35730111C>G | CA405419336 | KMT2B | c.4996C>G (p.Leu1666Val) c.2603C>G (n.2603C>G) c.280C>G (p.Leu94Val) c.488C>G n.215C>G c.283C>G (p.Leu95Val) c.4604C>G c.5062C>G (p.Leu1688Val) c.2384C>G c.4786C>G (p.Leu1596Val) c.4498C>G (p.Leu1500Val) c.2026C>G (p.Leu676Val) | dbSNP |
19 | g.35730111C>T | CA405419334 | KMT2B | c.4996C>T (p.Leu1666Phe) c.2603C>T (n.2603C>T) c.280C>T (p.Leu94Phe) c.488C>T n.215C>T c.283C>T (p.Leu95Phe) c.4604C>T c.5062C>T (p.Leu1688Phe) c.2384C>T c.4786C>T (p.Leu1596Phe) c.4498C>T (p.Leu1500Phe) c.2026C>T (p.Leu676Phe) | |
19 | g.35730112T>A | CA405419337 | KMT2B | c.4997T>A (p.Leu1666His) c.2604T>A (n.2604T>A) c.281T>A (p.Leu94His) c.489T>A n.216T>A c.284T>A (p.Leu95His) c.4605T>A c.5063T>A (p.Leu1688His) c.2385T>A c.4787T>A (p.Leu1596His) c.4499T>A (p.Leu1500His) c.2027T>A (p.Leu676His) | dbSNP |
19 | g.35730112T>C | CA405419338 | KMT2B | c.4997T>C (p.Leu1666Pro) c.2604T>C (n.2604T>C) c.281T>C (p.Leu94Pro) c.489T>C n.216T>C c.284T>C (p.Leu95Pro) c.4605T>C c.5063T>C (p.Leu1688Pro) c.2385T>C c.4787T>C (p.Leu1596Pro) c.4499T>C (p.Leu1500Pro) c.2027T>C (p.Leu676Pro) | |
19 | g.35730112T>G | CA405419339 | KMT2B | c.4997T>G (p.Leu1666Arg) c.2604T>G (n.2604T>G) c.281T>G (p.Leu94Arg) c.489T>G n.216T>G c.284T>G (p.Leu95Arg) c.4605T>G c.5063T>G (p.Leu1688Arg) c.2385T>G c.4787T>G (p.Leu1596Arg) c.4499T>G (p.Leu1500Arg) c.2027T>G (p.Leu676Arg) | |
19 | g.35730112T= | CA2333793116 | KMT2B | c.4997T= (p.Leu1666=) c.2604T= (n.2604T=) c.281T= (p.Leu94=) c.489T= n.216T= c.284T= (p.Leu95=) c.4605T= c.5063T= (p.Leu1688=) c.2385T= c.4787T= (p.Leu1596=) c.4499T= (p.Leu1500=) c.2027T= (p.Leu676=) | |
19 | g.35730113C>A | CA507072693 | KMT2B | c.4998C>A (p.Leu1666=) c.2605C>A (n.2605C>A) c.282C>A (p.Leu94=) c.490C>A n.217C>A c.285C>A (p.Leu95=) c.4606C>A c.5064C>A (p.Leu1688=) c.2386C>A c.4788C>A (p.Leu1596=) c.4500C>A (p.Leu1500=) c.2028C>A (p.Leu676=) | |
19 | g.35730113C= | CA2333793117 | KMT2B | c.4998C= (p.Leu1666=) c.2605C= (n.2605C=) c.282C= (p.Leu94=) c.490C= n.217C= c.285C= (p.Leu95=) c.4606C= c.5064C= (p.Leu1688=) c.2386C= c.4788C= (p.Leu1596=) c.4500C= (p.Leu1500=) c.2028C= (p.Leu676=) | |
19 | g.35730113C>G | CA507072694 | KMT2B | c.4998C>G (p.Leu1666=) c.2605C>G (n.2605C>G) c.282C>G (p.Leu94=) c.490C>G n.217C>G c.285C>G (p.Leu95=) c.4606C>G c.5064C>G (p.Leu1688=) c.2386C>G c.4788C>G (p.Leu1596=) c.4500C>G (p.Leu1500=) c.2028C>G (p.Leu676=) | |
19 | g.35730113C>T | CA507072695 | KMT2B | c.4998C>T (p.Leu1666=) c.2605C>T (n.2605C>T) c.282C>T (p.Leu94=) c.490C>T n.217C>T c.285C>T (p.Leu95=) c.4606C>T c.5064C>T (p.Leu1688=) c.2386C>T c.4788C>T (p.Leu1596=) c.4500C>T (p.Leu1500=) c.2028C>T (p.Leu676=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35730114C>A | CA405419340 | KMT2B | c.4999C>A (p.Leu1667Met) c.2606C>A (n.2606C>A) c.283C>A (p.Leu95Met) c.491C>A n.218C>A c.286C>A (p.Leu96Met) c.4607C>A c.5065C>A (p.Leu1689Met) c.2387C>A c.4789C>A (p.Leu1597Met) c.4501C>A (p.Leu1501Met) c.2029C>A (p.Leu677Met) | gnomAD v4 |
19 | g.35730114C= | CA2333793118 | KMT2B | c.4999C= (p.Leu1667=) c.2606C= (n.2606C=) c.283C= (p.Leu95=) c.491C= n.218C= c.286C= (p.Leu96=) c.4607C= c.5065C= (p.Leu1689=) c.2387C= c.4789C= (p.Leu1597=) c.4501C= (p.Leu1501=) c.2029C= (p.Leu677=) | |
19 | g.35730114C>G | CA9385278 | KMT2B | c.4999C>G (p.Leu1667Val) c.2606C>G (n.2606C>G) c.283C>G (p.Leu95Val) c.491C>G n.218C>G c.286C>G (p.Leu96Val) c.4607C>G c.5065C>G (p.Leu1689Val) c.2387C>G c.4789C>G (p.Leu1597Val) c.4501C>G (p.Leu1501Val) c.2029C>G (p.Leu677Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730114C>T | CA507072696 | KMT2B | c.4999C>T (p.Leu1667=) c.2606C>T (n.2606C>T) c.283C>T (p.Leu95=) c.491C>T n.218C>T c.286C>T (p.Leu96=) c.4607C>T c.5065C>T (p.Leu1689=) c.2387C>T c.4789C>T (p.Leu1597=) c.4501C>T (p.Leu1501=) c.2029C>T (p.Leu677=) | gnomAD v4 |
19 | g.35730115T>A | CA405419341 | KMT2B | c.5000T>A (p.Leu1667Gln) c.2607T>A (n.2607T>A) c.284T>A (p.Leu95Gln) c.492T>A n.219T>A c.287T>A (p.Leu96Gln) c.4608T>A c.5066T>A (p.Leu1689Gln) c.2388T>A c.4790T>A (p.Leu1597Gln) c.4502T>A (p.Leu1501Gln) c.2030T>A (p.Leu677Gln) | |
19 | g.35730115T>C | CA405419342 | KMT2B | c.5000T>C (p.Leu1667Pro) c.2607T>C (n.2607T>C) c.284T>C (p.Leu95Pro) c.492T>C n.219T>C c.287T>C (p.Leu96Pro) c.4608T>C c.5066T>C (p.Leu1689Pro) c.2388T>C c.4790T>C (p.Leu1597Pro) c.4502T>C (p.Leu1501Pro) c.2030T>C (p.Leu677Pro) | |
19 | g.35730115T>G | CA405419343 | KMT2B | c.5000T>G (p.Leu1667Arg) c.2607T>G (n.2607T>G) c.284T>G (p.Leu95Arg) c.492T>G n.219T>G c.287T>G (p.Leu96Arg) c.4608T>G c.5066T>G (p.Leu1689Arg) c.2388T>G c.4790T>G (p.Leu1597Arg) c.4502T>G (p.Leu1501Arg) c.2030T>G (p.Leu677Arg) | |
19 | g.35730116G>A | CA507072697 | KMT2B | c.5001G>A (p.Leu1667=) c.2608G>A (n.2608G>A) c.285G>A (p.Leu95=) c.493G>A n.220G>A c.288G>A (p.Leu96=) c.4609G>A c.5067G>A (p.Leu1689=) c.2389G>A c.4791G>A (p.Leu1597=) c.4503G>A (p.Leu1501=) c.2031G>A (p.Leu677=) | dbSNP gnomAD v2 |
19 | g.35730116G>C | CA507072699 | KMT2B | c.5001G>C (p.Leu1667=) c.2608G>C (n.2608G>C) c.285G>C (p.Leu95=) c.493G>C n.220G>C c.288G>C (p.Leu96=) c.4609G>C c.5067G>C (p.Leu1689=) c.2389G>C c.4791G>C (p.Leu1597=) c.4503G>C (p.Leu1501=) c.2031G>C (p.Leu677=) | COSMIC |
19 | g.35730116G= | CA2333793119 | KMT2B | c.5001G= (p.Leu1667=) c.2608G= (n.2608G=) c.285G= (p.Leu95=) c.493G= n.220G= c.288G= (p.Leu96=) c.4609G= c.5067G= (p.Leu1689=) c.2389G= c.4791G= (p.Leu1597=) c.4503G= (p.Leu1501=) c.2031G= (p.Leu677=) | |
19 | g.35730116G>T | CA507072698 | KMT2B | c.5001G>T (p.Leu1667=) c.2608G>T (n.2608G>T) c.285G>T (p.Leu95=) c.493G>T n.220G>T c.288G>T (p.Leu96=) c.4609G>T c.5067G>T (p.Leu1689=) c.2389G>T c.4791G>T (p.Leu1597=) c.4503G>T (p.Leu1501=) c.2031G>T (p.Leu677=) | |
19 | g.35730117G>A | CA405419344 | KMT2B | c.5002G>A (p.Asp1668Asn) c.2609G>A (n.2609G>A) c.286G>A (p.Asp96Asn) c.494G>A n.221G>A c.289G>A (p.Asp97Asn) c.4610G>A c.5068G>A (p.Asp1690Asn) c.2390G>A c.4792G>A (p.Asp1598Asn) c.4504G>A (p.Asp1502Asn) c.2032G>A (p.Asp678Asn) | |
19 | g.35730117G>C | CA405419345 | KMT2B | c.5002G>C (p.Asp1668His) c.2609G>C (n.2609G>C) c.286G>C (p.Asp96His) c.494G>C n.221G>C c.289G>C (p.Asp97His) c.4610G>C c.5068G>C (p.Asp1690His) c.2390G>C c.4792G>C (p.Asp1598His) c.4504G>C (p.Asp1502His) c.2032G>C (p.Asp678His) | |
19 | g.35730117G>T | CA405419346 | KMT2B | c.5002G>T (p.Asp1668Tyr) c.2609G>T (n.2609G>T) c.286G>T (p.Asp96Tyr) c.494G>T n.221G>T c.289G>T (p.Asp97Tyr) c.4610G>T c.5068G>T (p.Asp1690Tyr) c.2390G>T c.4792G>T (p.Asp1598Tyr) c.4504G>T (p.Asp1502Tyr) c.2032G>T (p.Asp678Tyr) | |
19 | g.35730118A>C | CA405419347 | KMT2B | c.5003A>C (p.Asp1668Ala) c.2610A>C (n.2610A>C) c.287A>C (p.Asp96Ala) c.495A>C n.222A>C c.290A>C (p.Asp97Ala) c.4611A>C c.5069A>C (p.Asp1690Ala) c.2391A>C c.4793A>C (p.Asp1598Ala) c.4505A>C (p.Asp1502Ala) c.2033A>C (p.Asp678Ala) | |
19 | g.35730118A>G | CA405419348 | KMT2B | c.5003A>G (p.Asp1668Gly) c.2610A>G (n.2610A>G) c.287A>G (p.Asp96Gly) c.495A>G n.222A>G c.290A>G (p.Asp97Gly) c.4611A>G c.5069A>G (p.Asp1690Gly) c.2391A>G c.4793A>G (p.Asp1598Gly) c.4505A>G (p.Asp1502Gly) c.2033A>G (p.Asp678Gly) | |
19 | g.35730118A>T | CA405419349 | KMT2B | c.5003A>T (p.Asp1668Val) c.2610A>T (n.2610A>T) c.287A>T (p.Asp96Val) c.495A>T n.222A>T c.290A>T (p.Asp97Val) c.4611A>T c.5069A>T (p.Asp1690Val) c.2391A>T c.4793A>T (p.Asp1598Val) c.4505A>T (p.Asp1502Val) c.2033A>T (p.Asp678Val) | |
19 | g.35730119T>A | CA405419350 | KMT2B | c.5004T>A (p.Asp1668Glu) c.2611T>A (n.2611T>A) c.288T>A (p.Asp96Glu) c.496T>A n.223T>A c.291T>A (p.Asp97Glu) c.4612T>A c.5070T>A (p.Asp1690Glu) c.2392T>A c.4794T>A (p.Asp1598Glu) c.4506T>A (p.Asp1502Glu) c.2034T>A (p.Asp678Glu) | |
19 | g.35730119T>C | CA507072700 | KMT2B | c.5004T>C (p.Asp1668=) c.2611T>C (n.2611T>C) c.288T>C (p.Asp96=) c.496T>C n.223T>C c.291T>C (p.Asp97=) c.4612T>C c.5070T>C (p.Asp1690=) c.2392T>C c.4794T>C (p.Asp1598=) c.4506T>C (p.Asp1502=) c.2034T>C (p.Asp678=) | |
19 | g.35730119T>G | CA405419351 | KMT2B | c.5004T>G (p.Asp1668Glu) c.2611T>G (n.2611T>G) c.288T>G (p.Asp96Glu) c.496T>G n.223T>G c.291T>G (p.Asp97Glu) c.4612T>G c.5070T>G (p.Asp1690Glu) c.2392T>G c.4794T>G (p.Asp1598Glu) c.4506T>G (p.Asp1502Glu) c.2034T>G (p.Asp678Glu) | |
19 | g.35730120G>A | CA405419352 | KMT2B | c.5005G>A (p.Gly1669Ser) c.2612G>A (n.2612G>A) c.289G>A (p.Gly97Ser) c.497G>A n.224G>A c.292G>A (p.Gly98Ser) c.4613G>A c.5071G>A (p.Gly1691Ser) c.2393G>A c.4795G>A (p.Gly1599Ser) c.4507G>A (p.Gly1503Ser) c.2035G>A (p.Gly679Ser) | |
19 | g.35730120G>C | CA405419353 | KMT2B | c.5005G>C (p.Gly1669Arg) c.2612G>C (n.2612G>C) c.289G>C (p.Gly97Arg) c.497G>C n.224G>C c.292G>C (p.Gly98Arg) c.4613G>C c.5071G>C (p.Gly1691Arg) c.2393G>C c.4795G>C (p.Gly1599Arg) c.4507G>C (p.Gly1503Arg) c.2035G>C (p.Gly679Arg) | |
19 | g.35730120G>T | CA405419354 | KMT2B | c.5005G>T (p.Gly1669Cys) c.2612G>T (n.2612G>T) c.289G>T (p.Gly97Cys) c.497G>T n.224G>T c.292G>T (p.Gly98Cys) c.4613G>T c.5071G>T (p.Gly1691Cys) c.2393G>T c.4795G>T (p.Gly1599Cys) c.4507G>T (p.Gly1503Cys) c.2035G>T (p.Gly679Cys) | |
19 | g.35730121G>A | CA405419355 | KMT2B | c.5006G>A (p.Gly1669Asp) c.2613G>A (n.2613G>A) c.290G>A (p.Gly97Asp) c.498G>A n.225G>A c.293G>A (p.Gly98Asp) c.4614G>A c.5072G>A (p.Gly1691Asp) c.2394G>A c.4796G>A (p.Gly1599Asp) c.4508G>A (p.Gly1503Asp) c.2036G>A (p.Gly679Asp) | |
19 | g.35730121G>C | CA405419356 | KMT2B | c.5006G>C (p.Gly1669Ala) c.2613G>C (n.2613G>C) c.290G>C (p.Gly97Ala) c.498G>C n.225G>C c.293G>C (p.Gly98Ala) c.4614G>C c.5072G>C (p.Gly1691Ala) c.2394G>C c.4796G>C (p.Gly1599Ala) c.4508G>C (p.Gly1503Ala) c.2036G>C (p.Gly679Ala) | gnomAD v4 |
19 | g.35730121G>T | CA405419357 | KMT2B | c.5006G>T (p.Gly1669Val) c.2613G>T (n.2613G>T) c.290G>T (p.Gly97Val) c.498G>T n.225G>T c.293G>T (p.Gly98Val) c.4614G>T c.5072G>T (p.Gly1691Val) c.2394G>T c.4796G>T (p.Gly1599Val) c.4508G>T (p.Gly1503Val) c.2036G>T (p.Gly679Val) | |
19 | g.35730122C>A | CA507072702 | KMT2B | c.5007C>A (p.Gly1669=) c.2614C>A (n.2614C>A) c.291C>A (p.Gly97=) c.499C>A n.226C>A c.294C>A (p.Gly98=) c.4615C>A c.5073C>A (p.Gly1691=) c.2395C>A c.4797C>A (p.Gly1599=) c.4509C>A (p.Gly1503=) c.2037C>A (p.Gly679=) | |
19 | g.35730122C= | CA2333793120 | KMT2B | c.5007C= (p.Gly1669=) c.2614C= (n.2614C=) c.291C= (p.Gly97=) c.499C= n.226C= c.294C= (p.Gly98=) c.4615C= c.5073C= (p.Gly1691=) c.2395C= c.4797C= (p.Gly1599=) c.4509C= (p.Gly1503=) c.2037C= (p.Gly679=) | |
19 | g.35730122C>G | CA507072703 | KMT2B | c.5007C>G (p.Gly1669=) c.2614C>G (n.2614C>G) c.291C>G (p.Gly97=) c.499C>G n.226C>G c.294C>G (p.Gly98=) c.4615C>G c.5073C>G (p.Gly1691=) c.2395C>G c.4797C>G (p.Gly1599=) c.4509C>G (p.Gly1503=) c.2037C>G (p.Gly679=) | |
19 | g.35730122C>T | CA507072704 | KMT2B | c.5007C>T (p.Gly1669=) c.2614C>T (n.2614C>T) c.291C>T (p.Gly97=) c.499C>T n.226C>T c.294C>T (p.Gly98=) c.4615C>T c.5073C>T (p.Gly1691=) c.2395C>T c.4797C>T (p.Gly1599=) c.4509C>T (p.Gly1503=) c.2037C>T (p.Gly679=) | ClinVar dbSNP |
19 | g.35730123A= | CA2333793122 | KMT2B | c.5008A= (p.Lys1670=) c.2615A= (n.2615A=) c.292A= (p.Lys98=) c.500A= n.227A= c.295A= (p.Lys99=) c.4616A= c.5074A= (p.Lys1692=) c.2396A= c.4798A= (p.Lys1600=) c.4510A= (p.Lys1504=) c.2038A= (p.Lys680=) | |
19 | g.35730123A>C | CA405419358 | KMT2B | c.5008A>C (p.Lys1670Gln) c.2615A>C (n.2615A>C) c.292A>C (p.Lys98Gln) c.500A>C n.227A>C c.295A>C (p.Lys99Gln) c.4616A>C c.5074A>C (p.Lys1692Gln) c.2396A>C c.4798A>C (p.Lys1600Gln) c.4510A>C (p.Lys1504Gln) c.2038A>C (p.Lys680Gln) | |
19 | g.35730123A>G | CA9385279 | KMT2B | c.5008A>G (p.Lys1670Glu) c.2615A>G (n.2615A>G) c.292A>G (p.Lys98Glu) c.500A>G n.227A>G c.295A>G (p.Lys99Glu) c.4616A>G c.5074A>G (p.Lys1692Glu) c.2396A>G c.4798A>G (p.Lys1600Glu) c.4510A>G (p.Lys1504Glu) c.2038A>G (p.Lys680Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730123A>T | CA405419359 | KMT2B | c.5008A>T (p.Lys1670Ter) c.2615A>T (n.2615A>T) c.292A>T (p.Lys98Ter) c.500A>T n.227A>T c.295A>T (p.Lys99Ter) c.4616A>T c.5074A>T (p.Lys1692Ter) c.2396A>T c.4798A>T (p.Lys1600Ter) c.4510A>T (p.Lys1504Ter) c.2038A>T (p.Lys680Ter) | |
19 | g.35730124dup | CA2333793121 | KMT2B | c.5009dup (p.Glu1671GlyfsTer9) c.2616dup (n.2616dup) c.293dup (p.Glu99GlyfsTer9) c.501dup n.228dup c.296dup (p.Glu100GlyfsTer9) c.4617dup c.5075dup (p.Glu1693GlyfsTer9) c.2397dup c.4799dup (p.Glu1601GlyfsTer9) c.4511dup (p.Glu1505GlyfsTer9) c.2039dup (p.Glu681GlyfsTer9) | dbSNP |
19 | g.35730124A>C | CA405419360 | KMT2B | c.5009A>C (p.Lys1670Thr) c.2616A>C (n.2616A>C) c.293A>C (p.Lys98Thr) c.501A>C n.228A>C c.296A>C (p.Lys99Thr) c.4617A>C c.5075A>C (p.Lys1692Thr) c.2397A>C c.4799A>C (p.Lys1600Thr) c.4511A>C (p.Lys1504Thr) c.2039A>C (p.Lys680Thr) | gnomAD v4 |
19 | g.35730124A>G | CA405419361 | KMT2B | c.5009A>G (p.Lys1670Arg) c.2616A>G (n.2616A>G) c.293A>G (p.Lys98Arg) c.501A>G n.228A>G c.296A>G (p.Lys99Arg) c.4617A>G c.5075A>G (p.Lys1692Arg) c.2397A>G c.4799A>G (p.Lys1600Arg) c.4511A>G (p.Lys1504Arg) c.2039A>G (p.Lys680Arg) | |
19 | g.35730124A>T | CA405419362 | KMT2B | c.5009A>T (p.Lys1670Met) c.2616A>T (n.2616A>T) c.293A>T (p.Lys98Met) c.501A>T n.228A>T c.296A>T (p.Lys99Met) c.4617A>T c.5075A>T (p.Lys1692Met) c.2397A>T c.4799A>T (p.Lys1600Met) c.4511A>T (p.Lys1504Met) c.2039A>T (p.Lys680Met) | |
19 | g.35730125G>A | CA507072706 | KMT2B | c.5010G>A (p.Lys1670=) c.2617G>A (n.2617G>A) c.294G>A (p.Lys98=) c.502G>A n.229G>A c.297G>A (p.Lys99=) c.4618G>A c.5076G>A (p.Lys1692=) c.2398G>A c.4800G>A (p.Lys1600=) c.4512G>A (p.Lys1504=) c.2040G>A (p.Lys680=) | |
19 | g.35730125G>C | CA405419363 | KMT2B | c.5010G>C (p.Lys1670Asn) c.2617G>C (n.2617G>C) c.294G>C (p.Lys98Asn) c.502G>C n.229G>C c.297G>C (p.Lys99Asn) c.4618G>C c.5076G>C (p.Lys1692Asn) c.2398G>C c.4800G>C (p.Lys1600Asn) c.4512G>C (p.Lys1504Asn) c.2040G>C (p.Lys680Asn) | |
19 | g.35730125G>T | CA405419364 | KMT2B | c.5010G>T (p.Lys1670Asn) c.2617G>T (n.2617G>T) c.294G>T (p.Lys98Asn) c.502G>T n.229G>T c.297G>T (p.Lys99Asn) c.4618G>T c.5076G>T (p.Lys1692Asn) c.2398G>T c.4800G>T (p.Lys1600Asn) c.4512G>T (p.Lys1504Asn) c.2040G>T (p.Lys680Asn) | |
19 | g.35730126_35730130del | CA645604587 | KMT2B | c.5010+1_5010+5del c.2617+1_2617+5del c.294+1_294+5del c.502+1_502+5del n.229+1_229+5del c.297+1_297+5del c.4618+1_4618+5del c.5076+1_5076+5del c.2398+1_2398+5del c.4800+1_4800+5del c.4512+1_4512+5del c.2040+1_2040+5del | COSMIC |
19 | g.35730126G>A | CA405419366 | KMT2B | c.5010+1G>A (n.5010+1G>A) c.2617+1G>A (n.2617+1G>A) c.294+1G>A (n.294+1G>A) c.502+1G>A n.229+1G>A c.297+1G>A (n.297+1G>A) c.4618+1G>A c.5076+1G>A (n.5076+1G>A) c.2398+1G>A c.4800+1G>A (n.4800+1G>A) c.4512+1G>A (n.4512+1G>A) c.2040+1G>A (n.2040+1G>A) | |
19 | g.35730126G>C | CA405419367 | KMT2B | c.5010+1G>C (n.5010+1G>C) c.2617+1G>C (n.2617+1G>C) c.294+1G>C (n.294+1G>C) c.502+1G>C n.229+1G>C c.297+1G>C (n.297+1G>C) c.4618+1G>C c.5076+1G>C (n.5076+1G>C) c.2398+1G>C c.4800+1G>C (n.4800+1G>C) c.4512+1G>C (n.4512+1G>C) c.2040+1G>C (n.2040+1G>C) | |
19 | g.35730126G>T | CA405419365 | KMT2B | c.5010+1G>T (n.5010+1G>T) c.2617+1G>T (n.2617+1G>T) c.294+1G>T (n.294+1G>T) c.502+1G>T n.229+1G>T c.297+1G>T (n.297+1G>T) c.4618+1G>T c.5076+1G>T (n.5076+1G>T) c.2398+1G>T c.4800+1G>T (n.4800+1G>T) c.4512+1G>T (n.4512+1G>T) c.2040+1G>T (n.2040+1G>T) | |
19 | g.35730127T>A | CA405419369 | KMT2B | c.5010+2T>A (n.5010+2T>A) c.2617+2T>A (n.2617+2T>A) c.294+2T>A (n.294+2T>A) c.502+2T>A n.229+2T>A c.297+2T>A (n.297+2T>A) c.4618+2T>A c.5076+2T>A (n.5076+2T>A) c.2398+2T>A c.4800+2T>A (n.4800+2T>A) c.4512+2T>A (n.4512+2T>A) c.2040+2T>A (n.2040+2T>A) | |
19 | g.35730127T>C | CA405419368 | KMT2B | c.5010+2T>C (n.5010+2T>C) c.2617+2T>C (n.2617+2T>C) c.294+2T>C (n.294+2T>C) c.502+2T>C n.229+2T>C c.297+2T>C (n.297+2T>C) c.4618+2T>C c.5076+2T>C (n.5076+2T>C) c.2398+2T>C c.4800+2T>C (n.4800+2T>C) c.4512+2T>C (n.4512+2T>C) c.2040+2T>C (n.2040+2T>C) | |
19 | g.35730127T>G | CA405419370 | KMT2B | c.5010+2T>G (n.5010+2T>G) c.2617+2T>G (n.2617+2T>G) c.294+2T>G (n.294+2T>G) c.502+2T>G n.229+2T>G c.297+2T>G (n.297+2T>G) c.4618+2T>G c.5076+2T>G (n.5076+2T>G) c.2398+2T>G c.4800+2T>G (n.4800+2T>G) c.4512+2T>G (n.4512+2T>G) c.2040+2T>G (n.2040+2T>G) | |
19 | g.35730128G>A | CA2584574698 | KMT2B | c.5010+3G>A (n.5010+3G>A) c.2617+3G>A (n.2617+3G>A) c.294+3G>A (n.294+3G>A) c.502+3G>A n.229+3G>A c.297+3G>A (n.297+3G>A) c.4618+3G>A c.5076+3G>A (n.5076+3G>A) c.2398+3G>A c.4800+3G>A (n.4800+3G>A) c.4512+3G>A (n.4512+3G>A) c.2040+3G>A (n.2040+3G>A) | gnomAD v4 |
19 | g.35730129G>A | CA2584574699 | KMT2B | c.5010+4G>A (n.5010+4G>A) c.2617+4G>A (n.2617+4G>A) c.294+4G>A (n.294+4G>A) c.502+4G>A n.229+4G>A c.297+4G>A (n.297+4G>A) c.4618+4G>A c.5076+4G>A (n.5076+4G>A) c.2398+4G>A c.4800+4G>A (n.4800+4G>A) c.4512+4G>A (n.4512+4G>A) c.2040+4G>A (n.2040+4G>A) | gnomAD v4 |
19 | g.35730129G>T | CA2736056917 | KMT2B | c.5010+4G>T (n.5010+4G>T) c.2617+4G>T (n.2617+4G>T) c.294+4G>T (n.294+4G>T) c.502+4G>T n.229+4G>T c.297+4G>T (n.297+4G>T) c.4618+4G>T c.5076+4G>T (n.5076+4G>T) c.2398+4G>T c.4800+4G>T (n.4800+4G>T) c.4512+4G>T (n.4512+4G>T) c.2040+4G>T (n.2040+4G>T) | dbSNP |
19 | g.35730130G>A | CA9385280 | KMT2B | c.5010+5G>A (n.5010+5G>A) c.2617+5G>A (n.2617+5G>A) c.294+5G>A (n.294+5G>A) c.502+5G>A n.229+5G>A c.297+5G>A (n.297+5G>A) c.4618+5G>A c.5076+5G>A (n.5076+5G>A) c.2398+5G>A c.4800+5G>A (n.4800+5G>A) c.4512+5G>A (n.4512+5G>A) c.2040+5G>A (n.2040+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730130G= | CA2333793123 | KMT2B | c.5010+5G= (n.5010+5G=) c.2617+5G= (n.2617+5G=) c.294+5G= (n.294+5G=) c.502+5G= n.229+5G= c.297+5G= (n.297+5G=) c.4618+5G= c.5076+5G= (n.5076+5G=) c.2398+5G= c.4800+5G= (n.4800+5G=) c.4512+5G= (n.4512+5G=) c.2040+5G= (n.2040+5G=) | |
19 | g.35730130G>T | CA2333793124 | KMT2B | c.5010+5G>T (n.5010+5G>T) c.2617+5G>T (n.2617+5G>T) c.294+5G>T (n.294+5G>T) c.502+5G>T n.229+5G>T c.297+5G>T (n.297+5G>T) c.4618+5G>T c.5076+5G>T (n.5076+5G>T) c.2398+5G>T c.4800+5G>T (n.4800+5G>T) c.4512+5G>T (n.4512+5G>T) c.2040+5G>T (n.2040+5G>T) | dbSNP |
19 | g.35730131C= | CA2333793125 | KMT2B | c.5010+6C= (n.5010+6C=) c.2617+6C= (n.2617+6C=) c.294+6C= (n.294+6C=) c.502+6C= n.229+6C= c.297+6C= (n.297+6C=) c.4618+6C= c.5076+6C= (n.5076+6C=) c.2398+6C= c.4800+6C= (n.4800+6C=) c.4512+6C= (n.4512+6C=) c.2040+6C= (n.2040+6C=) | |
19 | g.35730131C>T | CA9385281 | KMT2B | c.5010+6C>T (n.5010+6C>T) c.2617+6C>T (n.2617+6C>T) c.294+6C>T (n.294+6C>T) c.502+6C>T n.229+6C>T c.297+6C>T (n.297+6C>T) c.4618+6C>T c.5076+6C>T (n.5076+6C>T) c.2398+6C>T c.4800+6C>T (n.4800+6C>T) c.4512+6C>T (n.4512+6C>T) c.2040+6C>T (n.2040+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730132C>G | CA2576757028 | KMT2B | c.5010+7C>G (n.5010+7C>G) c.2617+7C>G (n.2617+7C>G) c.294+7C>G (n.294+7C>G) c.502+7C>G n.229+7C>G c.297+7C>G (n.297+7C>G) c.4618+7C>G c.5076+7C>G (n.5076+7C>G) c.2398+7C>G c.4800+7C>G (n.4800+7C>G) c.4512+7C>G (n.4512+7C>G) c.2040+7C>G (n.2040+7C>G) | |
19 | g.35730132C>T | CA2584574700 | KMT2B | c.5010+7C>T (n.5010+7C>T) c.2617+7C>T (n.2617+7C>T) c.294+7C>T (n.294+7C>T) c.502+7C>T n.229+7C>T c.297+7C>T (n.297+7C>T) c.4618+7C>T c.5076+7C>T (n.5076+7C>T) c.2398+7C>T c.4800+7C>T (n.4800+7C>T) c.4512+7C>T (n.4512+7C>T) c.2040+7C>T (n.2040+7C>T) | gnomAD v4 |
19 | g.35730133A>G | CA2584574701 | KMT2B | c.5010+8A>G (n.5010+8A>G) c.2617+8A>G (n.2617+8A>G) c.294+8A>G (n.294+8A>G) c.502+8A>G n.229+8A>G c.297+8A>G (n.297+8A>G) c.4618+8A>G c.5076+8A>G (n.5076+8A>G) c.2398+8A>G c.4800+8A>G (n.4800+8A>G) c.4512+8A>G (n.4512+8A>G) c.2040+8A>G (n.2040+8A>G) | gnomAD v4 |
19 | g.35730134G>C | CA633059979 | KMT2B | c.5010+9G>C (n.5010+9G>C) c.2617+9G>C (n.2617+9G>C) c.294+9G>C (n.294+9G>C) c.502+9G>C n.229+9G>C c.297+9G>C (n.297+9G>C) c.4618+9G>C c.5076+9G>C (n.5076+9G>C) c.2398+9G>C c.4800+9G>C (n.4800+9G>C) c.4512+9G>C (n.4512+9G>C) c.2040+9G>C (n.2040+9G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730134G= | CA2333793126 | KMT2B | c.5010+9G= (n.5010+9G=) c.2617+9G= (n.2617+9G=) c.294+9G= (n.294+9G=) c.502+9G= n.229+9G= c.297+9G= (n.297+9G=) c.4618+9G= c.5076+9G= (n.5076+9G=) c.2398+9G= c.4800+9G= (n.4800+9G=) c.4512+9G= (n.4512+9G=) c.2040+9G= (n.2040+9G=) | |
19 | g.35730136A= | CA2333793127 | KMT2B | c.5010+11A= (n.5010+11A=) c.2617+11A= (n.2617+11A=) c.294+11A= (n.294+11A=) c.502+11A= n.229+11A= c.297+11A= (n.297+11A=) c.4618+11A= c.5076+11A= (n.5076+11A=) c.2398+11A= c.4800+11A= (n.4800+11A=) c.4512+11A= (n.4512+11A=) c.2040+11A= (n.2040+11A=) | |
19 | g.35730136A>C | CA881811716 | KMT2B | c.5010+11A>C (n.5010+11A>C) c.2617+11A>C (n.2617+11A>C) c.294+11A>C (n.294+11A>C) c.502+11A>C n.229+11A>C c.297+11A>C (n.297+11A>C) c.4618+11A>C c.5076+11A>C (n.5076+11A>C) c.2398+11A>C c.4800+11A>C (n.4800+11A>C) c.4512+11A>C (n.4512+11A>C) c.2040+11A>C (n.2040+11A>C) | dbSNP |
19 | g.35730136A>G | CA633059980 | KMT2B | c.5010+11A>G (n.5010+11A>G) c.2617+11A>G (n.2617+11A>G) c.294+11A>G (n.294+11A>G) c.502+11A>G n.229+11A>G c.297+11A>G (n.297+11A>G) c.4618+11A>G c.5076+11A>G (n.5076+11A>G) c.2398+11A>G c.4800+11A>G (n.4800+11A>G) c.4512+11A>G (n.4512+11A>G) c.2040+11A>G (n.2040+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35730136A>T | CA2584574702 | KMT2B | c.5010+11A>T (n.5010+11A>T) c.2617+11A>T (n.2617+11A>T) c.294+11A>T (n.294+11A>T) c.502+11A>T n.229+11A>T c.297+11A>T (n.297+11A>T) c.4618+11A>T c.5076+11A>T (n.5076+11A>T) c.2398+11A>T c.4800+11A>T (n.4800+11A>T) c.4512+11A>T (n.4512+11A>T) c.2040+11A>T (n.2040+11A>T) | gnomAD v4 |
19 | g.35730137_35730139delinsCTG | CA2333793128 | KMT2B | c.5010+12_5010+14delinsCTG (n.5010+12_5010+14delinsCTG) c.2617+12_2617+14delinsCTG (n.2617+12_2617+14delinsCTG) c.294+12_294+14delinsCTG (n.294+12_294+14delinsCTG) c.502+12_502+14delinsCTG n.229+12_229+14delinsCTG c.297+12_297+14delinsCTG (n.297+12_297+14delinsCTG) c.4618+12_4618+14delinsCTG c.5076+12_5076+14delinsCTG (n.5076+12_5076+14delinsCTG) c.2398+12_2398+14delinsCTG c.4800+12_4800+14delinsCTG (n.4800+12_4800+14delinsCTG) c.4512+12_4512+14delinsCTG (n.4512+12_4512+14delinsCTG) c.2040+12_2040+14delinsCTG (n.2040+12_2040+14delinsCTG) | |
19 | g.35730138T>C | CA9385282 | KMT2B | c.5010+13T>C (n.5010+13T>C) c.2617+13T>C (n.2617+13T>C) c.294+13T>C (n.294+13T>C) c.502+13T>C n.229+13T>C c.297+13T>C (n.297+13T>C) c.4618+13T>C c.5076+13T>C (n.5076+13T>C) c.2398+13T>C c.4800+13T>C (n.4800+13T>C) c.4512+13T>C (n.4512+13T>C) c.2040+13T>C (n.2040+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730138T= | CA2333793130 | KMT2B | c.5010+13T= (n.5010+13T=) c.2617+13T= (n.2617+13T=) c.294+13T= (n.294+13T=) c.502+13T= n.229+13T= c.297+13T= (n.297+13T=) c.4618+13T= c.5076+13T= (n.5076+13T=) c.2398+13T= c.4800+13T= (n.4800+13T=) c.4512+13T= (n.4512+13T=) c.2040+13T= (n.2040+13T=) | |
19 | g.35730140_35730141del | CA2333793129 | KMT2B | c.5010+15_5010+16del (n.5010+15_5010+16del) c.2617+15_2617+16del (n.2617+15_2617+16del) c.294+15_294+16del (n.294+15_294+16del) c.502+15_502+16del n.229+15_229+16del c.297+15_297+16del (n.297+15_297+16del) c.4618+15_4618+16del c.5076+15_5076+16del (n.5076+15_5076+16del) c.2398+15_2398+16del c.4800+15_4800+16del (n.4800+15_4800+16del) c.4512+15_4512+16del (n.4512+15_4512+16del) c.2040+15_2040+16del (n.2040+15_2040+16del) | dbSNP gnomAD v4 |
19 | g.35730140T>C | CA657140385 | KMT2B | c.5010+15T>C (n.5010+15T>C) c.2617+15T>C (n.2617+15T>C) c.294+15T>C (n.294+15T>C) c.502+15T>C n.229+15T>C c.297+15T>C (n.297+15T>C) c.4618+15T>C c.5076+15T>C (n.5076+15T>C) c.2398+15T>C c.4800+15T>C (n.4800+15T>C) c.4512+15T>C (n.4512+15T>C) c.2040+15T>C (n.2040+15T>C) | gnomAD v4 COSMIC |
19 | g.35730140T>G | CA9385283 | KMT2B | c.5010+15T>G (n.5010+15T>G) c.2617+15T>G (n.2617+15T>G) c.294+15T>G (n.294+15T>G) c.502+15T>G n.229+15T>G c.297+15T>G (n.297+15T>G) c.4618+15T>G c.5076+15T>G (n.5076+15T>G) c.2398+15T>G c.4800+15T>G (n.4800+15T>G) c.4512+15T>G (n.4512+15T>G) c.2040+15T>G (n.2040+15T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730140T= | CA2333793131 | KMT2B | c.5010+15T= (n.5010+15T=) c.2617+15T= (n.2617+15T=) c.294+15T= (n.294+15T=) c.502+15T= n.229+15T= c.297+15T= (n.297+15T=) c.4618+15T= c.5076+15T= (n.5076+15T=) c.2398+15T= c.4800+15T= (n.4800+15T=) c.4512+15T= (n.4512+15T=) c.2040+15T= (n.2040+15T=) | |
19 | g.35730141G>A | CA9385284 | KMT2B | c.5010+16G>A (n.5010+16G>A) c.2617+16G>A (n.2617+16G>A) c.294+16G>A (n.294+16G>A) c.502+16G>A n.229+16G>A c.297+16G>A (n.297+16G>A) c.4618+16G>A c.5076+16G>A (n.5076+16G>A) c.2398+16G>A c.4800+16G>A (n.4800+16G>A) c.4512+16G>A (n.4512+16G>A) c.2040+16G>A (n.2040+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730141G= | CA2333793132 | KMT2B | c.5010+16G= (n.5010+16G=) c.2617+16G= (n.2617+16G=) c.294+16G= (n.294+16G=) c.502+16G= n.229+16G= c.297+16G= (n.297+16G=) c.4618+16G= c.5076+16G= (n.5076+16G=) c.2398+16G= c.4800+16G= (n.4800+16G=) c.4512+16G= (n.4512+16G=) c.2040+16G= (n.2040+16G=) | |
19 | g.35730141G>T | CA2584574703 | KMT2B | c.5010+16G>T (n.5010+16G>T) c.2617+16G>T (n.2617+16G>T) c.294+16G>T (n.294+16G>T) c.502+16G>T n.229+16G>T c.297+16G>T (n.297+16G>T) c.4618+16G>T c.5076+16G>T (n.5076+16G>T) c.2398+16G>T c.4800+16G>T (n.4800+16G>T) c.4512+16G>T (n.4512+16G>T) c.2040+16G>T (n.2040+16G>T) | gnomAD v4 |
19 | g.35730142G>A | CA2584574704 | KMT2B | c.5010+17G>A (n.5010+17G>A) c.2617+17G>A (n.2617+17G>A) c.294+17G>A (n.294+17G>A) c.502+17G>A n.229+17G>A c.297+17G>A (n.297+17G>A) c.4618+17G>A c.5076+17G>A (n.5076+17G>A) c.2398+17G>A c.4800+17G>A (n.4800+17G>A) c.4512+17G>A (n.4512+17G>A) c.2040+17G>A (n.2040+17G>A) | gnomAD v4 |
19 | g.35730142G>C | CA2580096849 | KMT2B | c.5010+17G>C (n.5010+17G>C) c.2617+17G>C (n.2617+17G>C) c.294+17G>C (n.294+17G>C) c.502+17G>C n.229+17G>C c.297+17G>C (n.297+17G>C) c.4618+17G>C c.5076+17G>C (n.5076+17G>C) c.2398+17G>C c.4800+17G>C (n.4800+17G>C) c.4512+17G>C (n.4512+17G>C) c.2040+17G>C (n.2040+17G>C) | ClinVar |
19 | g.35730143G>T | CA2814254888 | KMT2B | c.5010+18G>T (n.5010+18G>T) c.2617+18G>T (n.2617+18G>T) c.294+18G>T (n.294+18G>T) c.502+18G>T n.229+18G>T c.297+18G>T (n.297+18G>T) c.4618+18G>T c.5076+18G>T (n.5076+18G>T) c.2398+18G>T c.4800+18G>T (n.4800+18G>T) c.4512+18G>T (n.4512+18G>T) c.2040+18G>T (n.2040+18G>T) | |
19 | g.35730145T>A | CA2333793134 | KMT2B | c.5010+20T>A (n.5010+20T>A) c.2617+20T>A (n.2617+20T>A) c.294+20T>A (n.294+20T>A) c.502+20T>A n.229+20T>A c.297+20T>A (n.297+20T>A) c.4618+20T>A c.5076+20T>A (n.5076+20T>A) c.2398+20T>A c.4800+20T>A (n.4800+20T>A) c.4512+20T>A (n.4512+20T>A) c.2040+20T>A (n.2040+20T>A) | dbSNP gnomAD v4 |
19 | g.35730145T>C | CA2584574705 | KMT2B | c.5010+20T>C (n.5010+20T>C) c.2617+20T>C (n.2617+20T>C) c.294+20T>C (n.294+20T>C) c.502+20T>C n.229+20T>C c.297+20T>C (n.297+20T>C) c.4618+20T>C c.5076+20T>C (n.5076+20T>C) c.2398+20T>C c.4800+20T>C (n.4800+20T>C) c.4512+20T>C (n.4512+20T>C) c.2040+20T>C (n.2040+20T>C) | gnomAD v4 |
19 | g.35730145T= | CA2333793133 | KMT2B | c.5010+20T= (n.5010+20T=) c.2617+20T= (n.2617+20T=) c.294+20T= (n.294+20T=) c.502+20T= n.229+20T= c.297+20T= (n.297+20T=) c.4618+20T= c.5076+20T= (n.5076+20T=) c.2398+20T= c.4800+20T= (n.4800+20T=) c.4512+20T= (n.4512+20T=) c.2040+20T= (n.2040+20T=) | |
19 | g.35730147C>T | CA2584574706 | KMT2B | c.5010+22C>T (n.5010+22C>T) c.2617+22C>T (n.2617+22C>T) c.294+22C>T (n.294+22C>T) c.502+22C>T n.229+22C>T c.297+22C>T (n.297+22C>T) c.4618+22C>T c.5076+22C>T (n.5076+22C>T) c.2398+22C>T c.4800+22C>T (n.4800+22C>T) c.4512+22C>T (n.4512+22C>T) c.2040+22C>T (n.2040+22C>T) | gnomAD v4 |
19 | g.35730148A>G | CA2584574707 | KMT2B | c.5010+23A>G (n.5010+23A>G) c.2617+23A>G (n.2617+23A>G) c.294+23A>G (n.294+23A>G) c.502+23A>G n.229+23A>G c.297+23A>G (n.297+23A>G) c.4618+23A>G c.5076+23A>G (n.5076+23A>G) c.2398+23A>G c.4800+23A>G (n.4800+23A>G) c.4512+23A>G (n.4512+23A>G) c.2040+23A>G (n.2040+23A>G) | gnomAD v4 |
19 | g.35730149C= | CA2333793135 | KMT2B | c.5010+24C= (n.5010+24C=) c.2617+24C= (n.2617+24C=) c.294+24C= (n.294+24C=) c.502+24C= n.229+24C= c.297+24C= (n.297+24C=) c.4618+24C= c.5076+24C= (n.5076+24C=) c.2398+24C= c.4800+24C= (n.4800+24C=) c.4512+24C= (n.4512+24C=) c.2040+24C= (n.2040+24C=) | |
19 | g.35730149C>T | CA9385285 | KMT2B | c.5010+24C>T (n.5010+24C>T) c.2617+24C>T (n.2617+24C>T) c.294+24C>T (n.294+24C>T) c.502+24C>T n.229+24C>T c.297+24C>T (n.297+24C>T) c.4618+24C>T c.5076+24C>T (n.5076+24C>T) c.2398+24C>T c.4800+24C>T (n.4800+24C>T) c.4512+24C>T (n.4512+24C>T) c.2040+24C>T (n.2040+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730149_35730150del | CA2841614529 | KMT2B | c.5010+24_5010+25del (n.5010+24_5010+25del) c.2617+24_2617+25del (n.2617+24_2617+25del) c.294+24_294+25del (n.294+24_294+25del) c.502+24_502+25del n.229+24_229+25del c.297+24_297+25del (n.297+24_297+25del) c.4618+24_4618+25del c.5076+24_5076+25del (n.5076+24_5076+25del) c.2398+24_2398+25del c.4800+24_4800+25del (n.4800+24_4800+25del) c.4512+24_4512+25del (n.4512+24_4512+25del) c.2040+24_2040+25del (n.2040+24_2040+25del) | |
19 | g.35730150G>A | CA9385286 | KMT2B | c.5010+25G>A (n.5010+25G>A) c.2617+25G>A (n.2617+25G>A) c.294+25G>A (n.294+25G>A) c.502+25G>A n.229+25G>A c.297+25G>A (n.297+25G>A) c.4618+25G>A c.5076+25G>A (n.5076+25G>A) c.2398+25G>A c.4800+25G>A (n.4800+25G>A) c.4512+25G>A (n.4512+25G>A) c.2040+25G>A (n.2040+25G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730150G>C | CA2333793136 | KMT2B | c.5010+25G>C (n.5010+25G>C) c.2617+25G>C (n.2617+25G>C) c.294+25G>C (n.294+25G>C) c.502+25G>C n.229+25G>C c.297+25G>C (n.297+25G>C) c.4618+25G>C c.5076+25G>C (n.5076+25G>C) c.2398+25G>C c.4800+25G>C (n.4800+25G>C) c.4512+25G>C (n.4512+25G>C) c.2040+25G>C (n.2040+25G>C) | dbSNP |
19 | g.35730150G= | CA2333793137 | KMT2B | c.5010+25G= (n.5010+25G=) c.2617+25G= (n.2617+25G=) c.294+25G= (n.294+25G=) c.502+25G= n.229+25G= c.297+25G= (n.297+25G=) c.4618+25G= c.5076+25G= (n.5076+25G=) c.2398+25G= c.4800+25G= (n.4800+25G=) c.4512+25G= (n.4512+25G=) c.2040+25G= (n.2040+25G=) | |
19 | g.35730150G>T | CA2581381200 | KMT2B | c.5010+25G>T (n.5010+25G>T) c.2617+25G>T (n.2617+25G>T) c.294+25G>T (n.294+25G>T) c.502+25G>T n.229+25G>T c.297+25G>T (n.297+25G>T) c.4618+25G>T c.5076+25G>T (n.5076+25G>T) c.2398+25G>T c.4800+25G>T (n.4800+25G>T) c.4512+25G>T (n.4512+25G>T) c.2040+25G>T (n.2040+25G>T) | |
19 | g.35730151G>A | CA881811727 | KMT2B | c.5010+26G>A (n.5010+26G>A) c.2617+26G>A (n.2617+26G>A) c.294+26G>A (n.294+26G>A) c.502+26G>A n.229+26G>A c.297+26G>A (n.297+26G>A) c.4618+26G>A c.5076+26G>A (n.5076+26G>A) c.2398+26G>A c.4800+26G>A (n.4800+26G>A) c.4512+26G>A (n.4512+26G>A) c.2040+26G>A (n.2040+26G>A) | dbSNP |
19 | g.35730151G= | CA2333793138 | KMT2B | c.5010+26G= (n.5010+26G=) c.2617+26G= (n.2617+26G=) c.294+26G= (n.294+26G=) c.502+26G= n.229+26G= c.297+26G= (n.297+26G=) c.4618+26G= c.5076+26G= (n.5076+26G=) c.2398+26G= c.4800+26G= (n.4800+26G=) c.4512+26G= (n.4512+26G=) c.2040+26G= (n.2040+26G=) | |
19 | g.35730152T>C | CA2736056950 | KMT2B | c.5010+27T>C (n.5010+27T>C) c.2617+27T>C (n.2617+27T>C) c.294+27T>C (n.294+27T>C) c.502+27T>C n.229+27T>C c.297+27T>C (n.297+27T>C) c.4618+27T>C c.5076+27T>C (n.5076+27T>C) c.2398+27T>C c.4800+27T>C (n.4800+27T>C) c.4512+27T>C (n.4512+27T>C) c.2040+27T>C (n.2040+27T>C) | dbSNP |
19 | g.35730153_35730154delinsTC | CA2333793139 | KMT2B | c.5010+28_5010+29delinsTC (n.5010+28_5010+29delinsTC) c.2617+28_2617+29delinsTC (n.2617+28_2617+29delinsTC) c.294+28_294+29delinsTC (n.294+28_294+29delinsTC) c.502+28_502+29delinsTC n.229+28_229+29delinsTC c.297+28_297+29delinsTC (n.297+28_297+29delinsTC) c.4618+28_4618+29delinsTC c.5076+28_5076+29delinsTC (n.5076+28_5076+29delinsTC) c.2398+28_2398+29delinsTC c.4800+28_4800+29delinsTC (n.4800+28_4800+29delinsTC) c.4512+28_4512+29delinsTC (n.4512+28_4512+29delinsTC) c.2040+28_2040+29delinsTC (n.2040+28_2040+29delinsTC) | |
19 | g.35730155del | CA9385287 | KMT2B | c.5010+30del (n.5010+30del) c.2617+30del (n.2617+30del) c.294+30del (n.294+30del) c.502+30del n.229+30del c.297+30del (n.297+30del) c.4618+30del c.5076+30del (n.5076+30del) c.2398+30del c.4800+30del (n.4800+30del) c.4512+30del (n.4512+30del) c.2040+30del (n.2040+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35730155C= | CA2333793140 | KMT2B | c.5010+30C= (n.5010+30C=) c.2617+30C= (n.2617+30C=) c.294+30C= (n.294+30C=) c.502+30C= n.229+30C= c.297+30C= (n.297+30C=) c.4618+30C= c.5076+30C= (n.5076+30C=) c.2398+30C= c.4800+30C= (n.4800+30C=) c.4512+30C= (n.4512+30C=) c.2040+30C= (n.2040+30C=) | |
19 | g.35730155C>T | CA881811730 | KMT2B | c.5010+30C>T (n.5010+30C>T) c.2617+30C>T (n.2617+30C>T) c.294+30C>T (n.294+30C>T) c.502+30C>T n.229+30C>T c.297+30C>T (n.297+30C>T) c.4618+30C>T c.5076+30C>T (n.5076+30C>T) c.2398+30C>T c.4800+30C>T (n.4800+30C>T) c.4512+30C>T (n.4512+30C>T) c.2040+30C>T (n.2040+30C>T) | dbSNP gnomAD v4 |
19 | g.35730158C= | CA2333793141 | KMT2B | c.5010+33C= (n.5010+33C=) c.2617+33C= (n.2617+33C=) c.294+33C= (n.294+33C=) c.502+33C= n.229+33C= c.297+33C= (n.297+33C=) c.4618+33C= c.5076+33C= (n.5076+33C=) c.2398+33C= c.4800+33C= (n.4800+33C=) c.4512+33C= (n.4512+33C=) c.2040+33C= (n.2040+33C=) | |
19 | g.35730158C>T | CA307793041 | KMT2B | c.5010+33C>T (n.5010+33C>T) c.2617+33C>T (n.2617+33C>T) c.294+33C>T (n.294+33C>T) c.502+33C>T n.229+33C>T c.297+33C>T (n.297+33C>T) c.4618+33C>T c.5076+33C>T (n.5076+33C>T) c.2398+33C>T c.4800+33C>T (n.4800+33C>T) c.4512+33C>T (n.4512+33C>T) c.2040+33C>T (n.2040+33C>T) | dbSNP gnomAD v4 |
19 | g.35730161dup | CA2841614530 | KMT2B | c.5010+36dup (n.5010+36dup) c.2617+36dup (n.2617+36dup) c.294+36dup (n.294+36dup) c.502+36dup n.229+36dup c.297+36dup (n.297+36dup) c.4618+36dup c.5076+36dup (n.5076+36dup) c.2398+36dup c.4800+36dup (n.4800+36dup) c.4512+36dup (n.4512+36dup) c.2040+36dup (n.2040+36dup) | |
19 | g.35730160C= | CA2333793142 | KMT2B | c.5010+35C= (n.5010+35C=) c.2617+35C= (n.2617+35C=) c.294+35C= (n.294+35C=) c.502+35C= n.229+35C= c.297+35C= (n.297+35C=) c.4618+35C= c.5076+35C= (n.5076+35C=) c.2398+35C= c.4800+35C= (n.4800+35C=) c.4512+35C= (n.4512+35C=) c.2040+35C= (n.2040+35C=) | |
19 | g.35730160C>T | CA9385288 | KMT2B | c.5010+35C>T (n.5010+35C>T) c.2617+35C>T (n.2617+35C>T) c.294+35C>T (n.294+35C>T) c.502+35C>T n.229+35C>T c.297+35C>T (n.297+35C>T) c.4618+35C>T c.5076+35C>T (n.5076+35C>T) c.2398+35C>T c.4800+35C>T (n.4800+35C>T) c.4512+35C>T (n.4512+35C>T) c.2040+35C>T (n.2040+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730160_35730162delinsCCA | CA2333793143 | KMT2B | c.5010+35_5010+37delinsCCA (n.5010+35_5010+37delinsCCA) c.2617+35_2617+37delinsCCA (n.2617+35_2617+37delinsCCA) c.294+35_294+37delinsCCA (n.294+35_294+37delinsCCA) c.502+35_502+37delinsCCA n.229+35_229+37delinsCCA c.297+35_297+37delinsCCA (n.297+35_297+37delinsCCA) c.4618+35_4618+37delinsCCA c.5076+35_5076+37delinsCCA (n.5076+35_5076+37delinsCCA) c.2398+35_2398+37delinsCCA c.4800+35_4800+37delinsCCA (n.4800+35_4800+37delinsCCA) c.4512+35_4512+37delinsCCA (n.4512+35_4512+37delinsCCA) c.2040+35_2040+37delinsCCA (n.2040+35_2040+37delinsCCA) | |
19 | g.35730161C>A | CA2841614531 | KMT2B | c.5010+36C>A (n.5010+36C>A) c.2617+36C>A (n.2617+36C>A) c.294+36C>A (n.294+36C>A) c.502+36C>A n.229+36C>A c.297+36C>A (n.297+36C>A) c.4618+36C>A c.5076+36C>A (n.5076+36C>A) c.2398+36C>A c.4800+36C>A (n.4800+36C>A) c.4512+36C>A (n.4512+36C>A) c.2040+36C>A (n.2040+36C>A) | |
19 | g.35730161C= | CA2333793144 | KMT2B | c.5010+36C= (n.5010+36C=) c.2617+36C= (n.2617+36C=) c.294+36C= (n.294+36C=) c.502+36C= n.229+36C= c.297+36C= (n.297+36C=) c.4618+36C= c.5076+36C= (n.5076+36C=) c.2398+36C= c.4800+36C= (n.4800+36C=) c.4512+36C= (n.4512+36C=) c.2040+36C= (n.2040+36C=) | |
19 | g.35730161C>T | CA9385289 | KMT2B | c.5010+36C>T (n.5010+36C>T) c.2617+36C>T (n.2617+36C>T) c.294+36C>T (n.294+36C>T) c.502+36C>T n.229+36C>T c.297+36C>T (n.297+36C>T) c.4618+36C>T c.5076+36C>T (n.5076+36C>T) c.2398+36C>T c.4800+36C>T (n.4800+36C>T) c.4512+36C>T (n.4512+36C>T) c.2040+36C>T (n.2040+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730162_35730163del | CA881811736 | KMT2B | c.5010+37_5010+38del (n.5010+37_5010+38del) c.2617+37_2617+38del (n.2617+37_2617+38del) c.294+37_294+38del (n.294+37_294+38del) c.502+37_502+38del n.229+37_229+38del c.297+37_297+38del (n.297+37_297+38del) c.4618+37_4618+38del c.5076+37_5076+38del (n.5076+37_5076+38del) c.2398+37_2398+38del c.4800+37_4800+38del (n.4800+37_4800+38del) c.4512+37_4512+38del (n.4512+37_4512+38del) c.2040+37_2040+38del (n.2040+37_2040+38del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35730162A>C | CA995473564 | KMT2B | c.5010+37A>C (n.5010+37A>C) c.2617+37A>C (n.2617+37A>C) c.294+37A>C (n.294+37A>C) c.502+37A>C n.229+37A>C c.297+37A>C (n.297+37A>C) c.4618+37A>C c.5076+37A>C (n.5076+37A>C) c.2398+37A>C c.4800+37A>C (n.4800+37A>C) c.4512+37A>C (n.4512+37A>C) c.2040+37A>C (n.2040+37A>C) | gnomAD v3 gnomAD v4 |
19 | g.35730162A>G | CA2576757030 | KMT2B | c.5010+37A>G (n.5010+37A>G) c.2617+37A>G (n.2617+37A>G) c.294+37A>G (n.294+37A>G) c.502+37A>G n.229+37A>G c.297+37A>G (n.297+37A>G) c.4618+37A>G c.5076+37A>G (n.5076+37A>G) c.2398+37A>G c.4800+37A>G (n.4800+37A>G) c.4512+37A>G (n.4512+37A>G) c.2040+37A>G (n.2040+37A>G) | gnomAD v4 |
19 | g.35730163C= | CA2333793145 | KMT2B | c.5010+38C= (n.5010+38C=) c.2617+38C= (n.2617+38C=) c.294+38C= (n.294+38C=) c.502+38C= n.229+38C= c.297+38C= (n.297+38C=) c.4618+38C= c.5076+38C= (n.5076+38C=) c.2398+38C= c.4800+38C= (n.4800+38C=) c.4512+38C= (n.4512+38C=) c.2040+38C= (n.2040+38C=) | |
19 | g.35730163C>G | CA633059981 | KMT2B | c.5010+38C>G (n.5010+38C>G) c.2617+38C>G (n.2617+38C>G) c.294+38C>G (n.294+38C>G) c.502+38C>G n.229+38C>G c.297+38C>G (n.297+38C>G) c.4618+38C>G c.5076+38C>G (n.5076+38C>G) c.2398+38C>G c.4800+38C>G (n.4800+38C>G) c.4512+38C>G (n.4512+38C>G) c.2040+38C>G (n.2040+38C>G) | dbSNP gnomAD v2 |
19 | g.35730163C>T | CA9385290 | KMT2B | c.5010+38C>T (n.5010+38C>T) c.2617+38C>T (n.2617+38C>T) c.294+38C>T (n.294+38C>T) c.502+38C>T n.229+38C>T c.297+38C>T (n.297+38C>T) c.4618+38C>T c.5076+38C>T (n.5076+38C>T) c.2398+38C>T c.4800+38C>T (n.4800+38C>T) c.4512+38C>T (n.4512+38C>T) c.2040+38C>T (n.2040+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730164C= | CA2333793146 | KMT2B | c.5010+39C= (n.5010+39C=) c.2617+39C= (n.2617+39C=) c.294+39C= (n.294+39C=) c.502+39C= n.229+39C= c.297+39C= (n.297+39C=) c.4618+39C= c.5076+39C= (n.5076+39C=) c.2398+39C= c.4800+39C= (n.4800+39C=) c.4512+39C= (n.4512+39C=) c.2040+39C= (n.2040+39C=) | |
19 | g.35730164C>T | CA633059982 | KMT2B | c.5010+39C>T (n.5010+39C>T) c.2617+39C>T (n.2617+39C>T) c.294+39C>T (n.294+39C>T) c.502+39C>T n.229+39C>T c.297+39C>T (n.297+39C>T) c.4618+39C>T c.5076+39C>T (n.5076+39C>T) c.2398+39C>T c.4800+39C>T (n.4800+39C>T) c.4512+39C>T (n.4512+39C>T) c.2040+39C>T (n.2040+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35730168_35730169del | CA2584574708 | KMT2B | c.5010+43_5010+44del (n.5010+43_5010+44del) c.2617+43_2617+44del (n.2617+43_2617+44del) c.294+43_294+44del (n.294+43_294+44del) c.502+43_502+44del n.229+43_229+44del c.297+43_297+44del (n.297+43_297+44del) c.4618+43_4618+44del c.5076+43_5076+44del (n.5076+43_5076+44del) c.2398+43_2398+44del c.4800+43_4800+44del (n.4800+43_4800+44del) c.4512+43_4512+44del (n.4512+43_4512+44del) c.2040+43_2040+44del (n.2040+43_2040+44del) | gnomAD v4 |
19 | g.35730165T>A | CA9385291 | KMT2B | c.5010+40T>A (n.5010+40T>A) c.2617+40T>A (n.2617+40T>A) c.294+40T>A (n.294+40T>A) c.502+40T>A n.229+40T>A c.297+40T>A (n.297+40T>A) c.4618+40T>A c.5076+40T>A (n.5076+40T>A) c.2398+40T>A c.4800+40T>A (n.4800+40T>A) c.4512+40T>A (n.4512+40T>A) c.2040+40T>A (n.2040+40T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730165T>C | CA2584574709 | KMT2B | c.5010+40T>C (n.5010+40T>C) c.2617+40T>C (n.2617+40T>C) c.294+40T>C (n.294+40T>C) c.502+40T>C n.229+40T>C c.297+40T>C (n.297+40T>C) c.4618+40T>C c.5076+40T>C (n.5076+40T>C) c.2398+40T>C c.4800+40T>C (n.4800+40T>C) c.4512+40T>C (n.4512+40T>C) c.2040+40T>C (n.2040+40T>C) | gnomAD v4 |
19 | g.35730165T= | CA2333793147 | KMT2B | c.5010+40T= (n.5010+40T=) c.2617+40T= (n.2617+40T=) c.294+40T= (n.294+40T=) c.502+40T= n.229+40T= c.297+40T= (n.297+40T=) c.4618+40T= c.5076+40T= (n.5076+40T=) c.2398+40T= c.4800+40T= (n.4800+40T=) c.4512+40T= (n.4512+40T=) c.2040+40T= (n.2040+40T=) | |
19 | g.35730166C= | CA2333793148 | KMT2B | c.5010+41C= (n.5010+41C=) c.2617+41C= (n.2617+41C=) c.294+41C= (n.294+41C=) c.502+41C= n.229+41C= c.297+41C= (n.297+41C=) c.4618+41C= c.5076+41C= (n.5076+41C=) c.2398+41C= c.4800+41C= (n.4800+41C=) c.4512+41C= (n.4512+41C=) c.2040+41C= (n.2040+41C=) | |
19 | g.35730166C>T | CA2333793149 | KMT2B | c.5010+41C>T (n.5010+41C>T) c.2617+41C>T (n.2617+41C>T) c.294+41C>T (n.294+41C>T) c.502+41C>T n.229+41C>T c.297+41C>T (n.297+41C>T) c.4618+41C>T c.5076+41C>T (n.5076+41C>T) c.2398+41C>T c.4800+41C>T (n.4800+41C>T) c.4512+41C>T (n.4512+41C>T) c.2040+41C>T (n.2040+41C>T) | dbSNP |
19 | g.35730167T>A | CA9385292 | KMT2B | c.5010+42T>A (n.5010+42T>A) c.2617+42T>A (n.2617+42T>A) c.294+42T>A (n.294+42T>A) c.502+42T>A n.229+42T>A c.297+42T>A (n.297+42T>A) c.4618+42T>A c.5076+42T>A (n.5076+42T>A) c.2398+42T>A c.4800+42T>A (n.4800+42T>A) c.4512+42T>A (n.4512+42T>A) c.2040+42T>A (n.2040+42T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35730167T= | CA2333793150 | KMT2B | c.5010+42T= (n.5010+42T=) c.2617+42T= (n.2617+42T=) c.294+42T= (n.294+42T=) c.502+42T= n.229+42T= c.297+42T= (n.297+42T=) c.4618+42T= c.5076+42T= (n.5076+42T=) c.2398+42T= c.4800+42T= (n.4800+42T=) c.4512+42T= (n.4512+42T=) c.2040+42T= (n.2040+42T=) | |
19 | g.35730168C= | CA2333793151 | KMT2B | c.5010+43C= (n.5010+43C=) c.2617+43C= (n.2617+43C=) c.294+43C= (n.294+43C=) c.502+43C= n.229+43C= c.297+43C= (n.297+43C=) c.4618+43C= c.5076+43C= (n.5076+43C=) c.2398+43C= c.4800+43C= (n.4800+43C=) c.4512+43C= (n.4512+43C=) c.2040+43C= (n.2040+43C=) | |
19 | g.35730168C>G | CA2584574710 | KMT2B | c.5010+43C>G (n.5010+43C>G) c.2617+43C>G (n.2617+43C>G) c.294+43C>G (n.294+43C>G) c.502+43C>G n.229+43C>G c.297+43C>G (n.297+43C>G) c.4618+43C>G c.5076+43C>G (n.5076+43C>G) c.2398+43C>G c.4800+43C>G (n.4800+43C>G) c.4512+43C>G (n.4512+43C>G) c.2040+43C>G (n.2040+43C>G) | gnomAD v4 |
19 | g.35730168C>T | CA633059983 | KMT2B | c.5010+43C>T (n.5010+43C>T) c.2617+43C>T (n.2617+43C>T) c.294+43C>T (n.294+43C>T) c.502+43C>T n.229+43C>T c.297+43C>T (n.297+43C>T) c.4618+43C>T c.5076+43C>T (n.5076+43C>T) c.2398+43C>T c.4800+43C>T (n.4800+43C>T) c.4512+43C>T (n.4512+43C>T) c.2040+43C>T (n.2040+43C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35730170T>C | CA2584574711 | KMT2B | c.5010+45T>C (n.5010+45T>C) c.2617+45T>C (n.2617+45T>C) c.294+45T>C (n.294+45T>C) c.502+45T>C n.229+45T>C c.297+45T>C (n.297+45T>C) c.4618+45T>C c.5076+45T>C (n.5076+45T>C) c.2398+45T>C c.4800+45T>C (n.4800+45T>C) c.4512+45T>C (n.4512+45T>C) c.2040+45T>C (n.2040+45T>C) | gnomAD v4 |
19 | g.35730170T>G | CA2584574712 | KMT2B | c.5010+45T>G (n.5010+45T>G) c.2617+45T>G (n.2617+45T>G) c.294+45T>G (n.294+45T>G) c.502+45T>G n.229+45T>G c.297+45T>G (n.297+45T>G) c.4618+45T>G c.5076+45T>G (n.5076+45T>G) c.2398+45T>G c.4800+45T>G (n.4800+45T>G) c.4512+45T>G (n.4512+45T>G) c.2040+45T>G (n.2040+45T>G) | gnomAD v4 |
19 | g.35730170_35730171delinsTC | CA2333793152 | KMT2B | c.5010+45_5010+46delinsTC (n.5010+45_5010+46delinsTC) c.2617+45_2617+46delinsTC (n.2617+45_2617+46delinsTC) c.294+45_294+46delinsTC (n.294+45_294+46delinsTC) c.502+45_502+46delinsTC n.229+45_229+46delinsTC c.297+45_297+46delinsTC (n.297+45_297+46delinsTC) c.4618+45_4618+46delinsTC c.5076+45_5076+46delinsTC (n.5076+45_5076+46delinsTC) c.2398+45_2398+46delinsTC c.4800+45_4800+46delinsTC (n.4800+45_4800+46delinsTC) c.4512+45_4512+46delinsTC (n.4512+45_4512+46delinsTC) c.2040+45_2040+46delinsTC (n.2040+45_2040+46delinsTC) | |
19 | g.35730171C>A | CA2584574713 | KMT2B | c.5010+46C>A (n.5010+46C>A) c.2617+46C>A (n.2617+46C>A) c.294+46C>A (n.294+46C>A) c.502+46C>A n.229+46C>A c.297+46C>A (n.297+46C>A) c.4618+46C>A c.5076+46C>A (n.5076+46C>A) c.2398+46C>A c.4800+46C>A (n.4800+46C>A) c.4512+46C>A (n.4512+46C>A) c.2040+46C>A (n.2040+46C>A) | gnomAD v4 |
19 | g.35730171C= | CA2333793153 | KMT2B | c.5010+46C= (n.5010+46C=) c.2617+46C= (n.2617+46C=) c.294+46C= (n.294+46C=) c.502+46C= n.229+46C= c.297+46C= (n.297+46C=) c.4618+46C= c.5076+46C= (n.5076+46C=) c.2398+46C= c.4800+46C= (n.4800+46C=) c.4512+46C= (n.4512+46C=) c.2040+46C= (n.2040+46C=) | |
19 | g.35730171C>T | CA2333793154 | KMT2B | c.5010+46C>T (n.5010+46C>T) c.2617+46C>T (n.2617+46C>T) c.294+46C>T (n.294+46C>T) c.502+46C>T n.229+46C>T c.297+46C>T (n.297+46C>T) c.4618+46C>T c.5076+46C>T (n.5076+46C>T) c.2398+46C>T c.4800+46C>T (n.4800+46C>T) c.4512+46C>T (n.4512+46C>T) c.2040+46C>T (n.2040+46C>T) | dbSNP |
19 | g.35730172dup | CA2841614532 | KMT2B | c.5010+47dup (n.5010+47dup) c.2617+47dup (n.2617+47dup) c.294+47dup (n.294+47dup) c.502+47dup n.229+47dup c.297+47dup (n.297+47dup) c.4618+47dup c.5076+47dup (n.5076+47dup) c.2398+47dup c.4800+47dup (n.4800+47dup) c.4512+47dup (n.4512+47dup) c.2040+47dup (n.2040+47dup) | |
19 | g.35730172del | CA9385293 | KMT2B | c.5010+47del (n.5010+47del) c.2617+47del (n.2617+47del) c.294+47del (n.294+47del) c.502+47del n.229+47del c.297+47del (n.297+47del) c.4618+47del c.5076+47del (n.5076+47del) c.2398+47del c.4800+47del (n.4800+47del) c.4512+47del (n.4512+47del) c.2040+47del (n.2040+47del) | dbSNP ExAC gnomAD v2 gnomAD v4 |