| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |