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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49040811_49045663del | CA1139662644 | KMT2D | c.4741+257_6959del c.4741+257_6968del c.4738+257_6956del c.4738+257_6965del c.4741+257_6947del c.4741+257_6875del n.7061+257_9288del n.6050+257_8277del | ClinVar |
| 12 | g.49042102C>A | CA384626664 | KMT2D | c.887G>T c.6096G>T (p.Lys2032Asn) c.6105G>T (p.Lys2035Asn) c.208G>T c.6093G>T (p.Lys2031Asn) c.6102G>T (p.Lys2034Asn) c.6084G>T (p.Lys2028Asn) n.8425G>T n.7414G>T | |
| 12 | g.49042102C>G | CA384626666 | KMT2D | c.887G>C c.6096G>C (p.Lys2032Asn) c.6105G>C (p.Lys2035Asn) c.208G>C c.6093G>C (p.Lys2031Asn) c.6102G>C (p.Lys2034Asn) c.6084G>C (p.Lys2028Asn) n.8425G>C n.7414G>C | dbSNP |
| 12 | g.49042102C>T | CA479511659 | KMT2D | c.887G>A c.6096G>A (p.Lys2032=) c.6105G>A (p.Lys2035=) c.208G>A c.6093G>A (p.Lys2031=) c.6102G>A (p.Lys2034=) c.6084G>A (p.Lys2028=) n.8425G>A n.7414G>A | gnomAD v4 |
| 12 | g.49042103T>A | CA384626669 | KMT2D | c.886A>T c.6095A>T (p.Lys2032Met) c.6104A>T (p.Lys2035Met) c.207A>T c.6092A>T (p.Lys2031Met) c.6101A>T (p.Lys2034Met) c.6083A>T (p.Lys2028Met) n.8424A>T n.7413A>T | |
| 12 | g.49042103T>C | CA384626670 | KMT2D | c.886A>G c.6095A>G (p.Lys2032Arg) c.6104A>G (p.Lys2035Arg) c.207A>G c.6092A>G (p.Lys2031Arg) c.6101A>G (p.Lys2034Arg) c.6083A>G (p.Lys2028Arg) n.8424A>G n.7413A>G | |
| 12 | g.49042103T>G | CA384626671 | KMT2D | c.886A>C c.6095A>C (p.Lys2032Thr) c.6104A>C (p.Lys2035Thr) c.207A>C c.6092A>C (p.Lys2031Thr) c.6101A>C (p.Lys2034Thr) c.6083A>C (p.Lys2028Thr) n.8424A>C n.7413A>C | |
| 12 | g.49042104T>A | CA384626674 | KMT2D | c.885A>T c.6094A>T (p.Lys2032Ter) c.6103A>T (p.Lys2035Ter) c.206A>T c.6091A>T (p.Lys2031Ter) c.6100A>T (p.Lys2034Ter) c.6082A>T (p.Lys2028Ter) n.8423A>T n.7412A>T | |
| 12 | g.49042104T>C | CA384626675 | KMT2D | c.885A>G c.6094A>G (p.Lys2032Glu) c.6103A>G (p.Lys2035Glu) c.206A>G c.6091A>G (p.Lys2031Glu) c.6100A>G (p.Lys2034Glu) c.6082A>G (p.Lys2028Glu) n.8423A>G n.7412A>G | |
| 12 | g.49042104T>G | CA384626677 | KMT2D | c.885A>C c.6094A>C (p.Lys2032Gln) c.6103A>C (p.Lys2035Gln) c.206A>C c.6091A>C (p.Lys2031Gln) c.6100A>C (p.Lys2034Gln) c.6082A>C (p.Lys2028Gln) n.8423A>C n.7412A>C | gnomAD v4 |
| 12 | g.49042105G>A | CA479511664 | KMT2D | c.884C>T c.6093C>T (p.Leu2031=) c.6102C>T (p.Leu2034=) c.205C>T c.6090C>T (p.Leu2030=) c.6099C>T (p.Leu2033=) c.6081C>T (p.Leu2027=) n.8422C>T n.7411C>T | |
| 12 | g.49042105G>C | CA479511665 | KMT2D | c.884C>G c.6093C>G (p.Leu2031=) c.6102C>G (p.Leu2034=) c.205C>G c.6090C>G (p.Leu2030=) c.6099C>G (p.Leu2033=) c.6081C>G (p.Leu2027=) n.8422C>G n.7411C>G | gnomAD v4 |
| 12 | g.49042105G>T | CA479511667 | KMT2D | c.884C>A c.6093C>A (p.Leu2031=) c.6102C>A (p.Leu2034=) c.205C>A c.6090C>A (p.Leu2030=) c.6099C>A (p.Leu2033=) c.6081C>A (p.Leu2027=) n.8422C>A n.7411C>A | |
| 12 | g.49042106A>C | CA384626680 | KMT2D | c.883T>G c.6092T>G (p.Leu2031Arg) c.6101T>G (p.Leu2034Arg) c.204T>G c.6089T>G (p.Leu2030Arg) c.6098T>G (p.Leu2033Arg) c.6080T>G (p.Leu2027Arg) n.8421T>G n.7410T>G | |
| 12 | g.49042106A>G | CA384626682 | KMT2D | c.883T>C c.6092T>C (p.Leu2031Pro) c.6101T>C (p.Leu2034Pro) c.204T>C c.6089T>C (p.Leu2030Pro) c.6098T>C (p.Leu2033Pro) c.6080T>C (p.Leu2027Pro) n.8421T>C n.7410T>C | |
| 12 | g.49042106A>T | CA384626684 | KMT2D | c.883T>A c.6092T>A (p.Leu2031His) c.6101T>A (p.Leu2034His) c.204T>A c.6089T>A (p.Leu2030His) c.6098T>A (p.Leu2033His) c.6080T>A (p.Leu2027His) n.8421T>A n.7410T>A | |
| 12 | g.49042107G>A | CA384626690 | KMT2D | c.882C>T c.6091C>T (p.Leu2031Phe) c.6100C>T (p.Leu2034Phe) c.203C>T c.6088C>T (p.Leu2030Phe) c.6097C>T (p.Leu2033Phe) c.6079C>T (p.Leu2027Phe) n.8420C>T n.7409C>T | |
| 12 | g.49042107G>C | CA384626689 | KMT2D | c.882C>G c.6091C>G (p.Leu2031Val) c.6100C>G (p.Leu2034Val) c.203C>G c.6088C>G (p.Leu2030Val) c.6097C>G (p.Leu2033Val) c.6079C>G (p.Leu2027Val) n.8420C>G n.7409C>G | |
| 12 | g.49042107G>T | CA384626687 | KMT2D | c.882C>A c.6091C>A (p.Leu2031Ile) c.6100C>A (p.Leu2034Ile) c.203C>A c.6088C>A (p.Leu2030Ile) c.6097C>A (p.Leu2033Ile) c.6079C>A (p.Leu2027Ile) n.8420C>A n.7409C>A | |
| 12 | g.49042108A>C | CA384626692 | KMT2D | c.881T>G c.6090T>G (p.Asn2030Lys) c.6099T>G (p.Asn2033Lys) c.202T>G c.6087T>G (p.Asn2029Lys) c.6096T>G (p.Asn2032Lys) c.6078T>G (p.Asn2026Lys) n.8419T>G n.7408T>G | |
| 12 | g.49042108A>G | CA479511670 | KMT2D | c.881T>C c.6090T>C (p.Asn2030=) c.6099T>C (p.Asn2033=) c.202T>C c.6087T>C (p.Asn2029=) c.6096T>C (p.Asn2032=) c.6078T>C (p.Asn2026=) n.8419T>C n.7408T>C | |
| 12 | g.49042108A>T | CA384626693 | KMT2D | c.881T>A c.6090T>A (p.Asn2030Lys) c.6099T>A (p.Asn2033Lys) c.202T>A c.6087T>A (p.Asn2029Lys) c.6096T>A (p.Asn2032Lys) c.6078T>A (p.Asn2026Lys) n.8419T>A n.7408T>A | gnomAD v4 |
| 12 | g.49042109T>A | CA384626695 | KMT2D | c.880A>T c.6089A>T (p.Asn2030Ile) c.6098A>T (p.Asn2033Ile) c.201A>T c.6086A>T (p.Asn2029Ile) c.6095A>T (p.Asn2032Ile) c.6077A>T (p.Asn2026Ile) n.8418A>T n.7407A>T | |
| 12 | g.49042109T>C | CA384626697 | KMT2D | c.880A>G c.6089A>G (p.Asn2030Ser) c.6098A>G (p.Asn2033Ser) c.201A>G c.6086A>G (p.Asn2029Ser) c.6095A>G (p.Asn2032Ser) c.6077A>G (p.Asn2026Ser) n.8418A>G n.7407A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042109T>G | CA384626698 | KMT2D | c.880A>C c.6089A>C (p.Asn2030Thr) c.6098A>C (p.Asn2033Thr) c.201A>C c.6086A>C (p.Asn2029Thr) c.6095A>C (p.Asn2032Thr) c.6077A>C (p.Asn2026Thr) n.8418A>C n.7407A>C | |
| 12 | g.49042110T>A | CA384626700 | KMT2D | c.879A>T c.6088A>T (p.Asn2030Tyr) c.6097A>T (p.Asn2033Tyr) c.200A>T c.6085A>T (p.Asn2029Tyr) c.6094A>T (p.Asn2032Tyr) c.6076A>T (p.Asn2026Tyr) n.8417A>T n.7406A>T | |
| 12 | g.49042110T>C | CA384626702 | KMT2D | c.879A>G c.6088A>G (p.Asn2030Asp) c.6097A>G (p.Asn2033Asp) c.200A>G c.6085A>G (p.Asn2029Asp) c.6094A>G (p.Asn2032Asp) c.6076A>G (p.Asn2026Asp) n.8417A>G n.7406A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042110T>G | CA6547377 | KMT2D | c.879A>C c.6088A>C (p.Asn2030His) c.6097A>C (p.Asn2033His) c.200A>C c.6085A>C (p.Asn2029His) c.6094A>C (p.Asn2032His) c.6076A>C (p.Asn2026His) n.8417A>C n.7406A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.49042110T= | CA2034947811 | KMT2D | c.879A= c.6088A= (p.Asn2030=) c.6097A= (p.Asn2033=) c.200A= c.6085A= (p.Asn2029=) c.6094A= (p.Asn2032=) c.6076A= (p.Asn2026=) n.8417A= n.7406A= | |
| 12 | g.49042111A= | CA2034947813 | KMT2D | c.878T= c.6087T= (p.Pro2029=) c.6096T= (p.Pro2032=) c.199T= c.6084T= (p.Pro2028=) c.6093T= (p.Pro2031=) c.6075T= (p.Pro2025=) n.8416T= n.7405T= | |
| 12 | g.49042111A>C | CA479511671 | KMT2D | c.878T>G c.6087T>G (p.Pro2029=) c.6096T>G (p.Pro2032=) c.199T>G c.6084T>G (p.Pro2028=) c.6093T>G (p.Pro2031=) c.6075T>G (p.Pro2025=) n.8416T>G n.7405T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042111A>G | CA479511672 | KMT2D | c.878T>C c.6087T>C (p.Pro2029=) c.6096T>C (p.Pro2032=) c.199T>C c.6084T>C (p.Pro2028=) c.6093T>C (p.Pro2031=) c.6075T>C (p.Pro2025=) n.8416T>C n.7405T>C | |
| 12 | g.49042111A>T | CA479511673 | KMT2D | c.878T>A c.6087T>A (p.Pro2029=) c.6096T>A (p.Pro2032=) c.199T>A c.6084T>A (p.Pro2028=) c.6093T>A (p.Pro2031=) c.6075T>A (p.Pro2025=) n.8416T>A n.7405T>A | |
| 12 | g.49042111_49042112delinsAG | CA2034947812 | KMT2D | c.877_878delinsCT c.6086_6087delinsCT (p.Pro2029=) c.6095_6096delinsCT (p.Pro2032=) c.198_199delinsCT c.6083_6084delinsCT (p.Pro2028=) c.6092_6093delinsCT (p.Pro2031=) c.6074_6075delinsCT (p.Pro2025=) n.8415_8416delinsCT n.7404_7405delinsCT | |
| 12 | g.49042112G>A | CA384626704 | KMT2D | c.877C>T c.6086C>T (p.Pro2029Leu) c.6095C>T (p.Pro2032Leu) c.198C>T c.6083C>T (p.Pro2028Leu) c.6092C>T (p.Pro2031Leu) c.6074C>T (p.Pro2025Leu) n.8415C>T n.7404C>T | dbSNP gnomAD v4 |
| 12 | g.49042112G>C | CA384626706 | KMT2D | c.877C>G c.6086C>G (p.Pro2029Arg) c.6095C>G (p.Pro2032Arg) c.198C>G c.6083C>G (p.Pro2028Arg) c.6092C>G (p.Pro2031Arg) c.6074C>G (p.Pro2025Arg) n.8415C>G n.7404C>G | |
| 12 | g.49042112G>T | CA384626708 | KMT2D | c.877C>A c.6086C>A (p.Pro2029His) c.6095C>A (p.Pro2032His) c.198C>A c.6083C>A (p.Pro2028His) c.6092C>A (p.Pro2031His) c.6074C>A (p.Pro2025His) n.8415C>A n.7404C>A | |
| 12 | g.49042113del | CA271647 | KMT2D | c.877del c.6086del (p.Pro2029LeufsTer18) c.6095del (p.Pro2032LeufsTer18) c.198del c.6083del (p.Pro2028LeufsTer18) c.6092del (p.Pro2031LeufsTer18) c.6074del (p.Pro2025LeufsTer18) n.8415del n.7404del | ClinVar dbSNP |
| 12 | g.49042114_49042127del | CA2499221716 | KMT2D | c.864_877del c.6073_6086del (p.Asn2025Ter) c.6082_6095del (p.Asn2028Ter) c.185_198del c.6070_6083del (p.Asn2024Ter) c.6079_6092del (p.Asn2027Ter) c.6061_6074del (p.Asn2021Ter) n.8402_8415del n.7391_7404del | ClinVar dbSNP |
| 12 | g.49042113G>A | CA384626712 | KMT2D | c.876C>T c.6085C>T (p.Pro2029Ser) c.6094C>T (p.Pro2032Ser) c.197C>T c.6082C>T (p.Pro2028Ser) c.6091C>T (p.Pro2031Ser) c.6073C>T (p.Pro2025Ser) n.8414C>T n.7403C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49042113G>C | CA384626710 | KMT2D | c.876C>G c.6085C>G (p.Pro2029Ala) c.6094C>G (p.Pro2032Ala) c.197C>G c.6082C>G (p.Pro2028Ala) c.6091C>G (p.Pro2031Ala) c.6073C>G (p.Pro2025Ala) n.8414C>G n.7403C>G | |
| 12 | g.49042113G>T | CA384626709 | KMT2D | c.876C>A c.6085C>A (p.Pro2029Thr) c.6094C>A (p.Pro2032Thr) c.197C>A c.6082C>A (p.Pro2028Thr) c.6091C>A (p.Pro2031Thr) c.6073C>A (p.Pro2025Thr) n.8414C>A n.7403C>A | |
| 12 | g.49042114A>C | CA384626713 | KMT2D | c.875T>G c.6084T>G (p.Phe2028Leu) c.6093T>G (p.Phe2031Leu) c.196T>G c.6081T>G (p.Phe2027Leu) c.6090T>G (p.Phe2030Leu) c.6072T>G (p.Phe2024Leu) n.8413T>G n.7402T>G | |
| 12 | g.49042114A>G | CA479511675 | KMT2D | c.875T>C c.6084T>C (p.Phe2028=) c.6093T>C (p.Phe2031=) c.196T>C c.6081T>C (p.Phe2027=) c.6090T>C (p.Phe2030=) c.6072T>C (p.Phe2024=) n.8413T>C n.7402T>C | |
| 12 | g.49042114A>T | CA384626715 | KMT2D | c.875T>A c.6084T>A (p.Phe2028Leu) c.6093T>A (p.Phe2031Leu) c.196T>A c.6081T>A (p.Phe2027Leu) c.6090T>A (p.Phe2030Leu) c.6072T>A (p.Phe2024Leu) n.8413T>A n.7402T>A | |
| 12 | g.49042115A>C | CA384626717 | KMT2D | c.874T>G c.6083T>G (p.Phe2028Cys) c.6092T>G (p.Phe2031Cys) c.195T>G c.6080T>G (p.Phe2027Cys) c.6089T>G (p.Phe2030Cys) c.6071T>G (p.Phe2024Cys) n.8412T>G n.7401T>G | |
| 12 | g.49042115A>G | CA384626719 | KMT2D | c.874T>C c.6083T>C (p.Phe2028Ser) c.6092T>C (p.Phe2031Ser) c.195T>C c.6080T>C (p.Phe2027Ser) c.6089T>C (p.Phe2030Ser) c.6071T>C (p.Phe2024Ser) n.8412T>C n.7401T>C | |
| 12 | g.49042115A>T | CA384626721 | KMT2D | c.874T>A c.6083T>A (p.Phe2028Tyr) c.6092T>A (p.Phe2031Tyr) c.195T>A c.6080T>A (p.Phe2027Tyr) c.6089T>A (p.Phe2030Tyr) c.6071T>A (p.Phe2024Tyr) n.8412T>A n.7401T>A | |
| 12 | g.49042116A>C | CA384626722 | KMT2D | c.873T>G c.6082T>G (p.Phe2028Val) c.6091T>G (p.Phe2031Val) c.194T>G c.6079T>G (p.Phe2027Val) c.6088T>G (p.Phe2030Val) c.6070T>G (p.Phe2024Val) n.8411T>G n.7400T>G | |
| 12 | g.49042116A>G | CA384626723 | KMT2D | c.873T>C c.6082T>C (p.Phe2028Leu) c.6091T>C (p.Phe2031Leu) c.194T>C c.6079T>C (p.Phe2027Leu) c.6088T>C (p.Phe2030Leu) c.6070T>C (p.Phe2024Leu) n.8411T>C n.7400T>C | |
| 12 | g.49042116A>T | CA384626725 | KMT2D | c.873T>A c.6082T>A (p.Phe2028Ile) c.6091T>A (p.Phe2031Ile) c.194T>A c.6079T>A (p.Phe2027Ile) c.6088T>A (p.Phe2030Ile) c.6070T>A (p.Phe2024Ile) n.8411T>A n.7400T>A | |
| 12 | g.49042117A>C | CA384626727 | KMT2D | c.872T>G c.6081T>G (p.Asn2027Lys) c.6090T>G (p.Asn2030Lys) c.193T>G c.6078T>G (p.Asn2026Lys) c.6087T>G (p.Asn2029Lys) c.6069T>G (p.Asn2023Lys) n.8410T>G n.7399T>G | |
| 12 | g.49042117A>G | CA479511677 | KMT2D | c.872T>C c.6081T>C (p.Asn2027=) c.6090T>C (p.Asn2030=) c.193T>C c.6078T>C (p.Asn2026=) c.6087T>C (p.Asn2029=) c.6069T>C (p.Asn2023=) n.8410T>C n.7399T>C | |
| 12 | g.49042117A>T | CA384626729 | KMT2D | c.872T>A c.6081T>A (p.Asn2027Lys) c.6090T>A (p.Asn2030Lys) c.193T>A c.6078T>A (p.Asn2026Lys) c.6087T>A (p.Asn2029Lys) c.6069T>A (p.Asn2023Lys) n.8410T>A n.7399T>A | |
| 12 | g.49042118T>A | CA384626731 | KMT2D | c.871A>T c.6080A>T (p.Asn2027Ile) c.6089A>T (p.Asn2030Ile) c.192A>T c.6077A>T (p.Asn2026Ile) c.6086A>T (p.Asn2029Ile) c.6068A>T (p.Asn2023Ile) n.8409A>T n.7398A>T | |
| 12 | g.49042118T>C | CA384626733 | KMT2D | c.871A>G c.6080A>G (p.Asn2027Ser) c.6089A>G (p.Asn2030Ser) c.192A>G c.6077A>G (p.Asn2026Ser) c.6086A>G (p.Asn2029Ser) c.6068A>G (p.Asn2023Ser) n.8409A>G n.7398A>G | gnomAD v4 |
| 12 | g.49042118T>G | CA384626735 | KMT2D | c.871A>C c.6080A>C (p.Asn2027Thr) c.6089A>C (p.Asn2030Thr) c.192A>C c.6077A>C (p.Asn2026Thr) c.6086A>C (p.Asn2029Thr) c.6068A>C (p.Asn2023Thr) n.8409A>C n.7398A>C | |
| 12 | g.49042119T>A | CA384626738 | KMT2D | c.870A>T c.6079A>T (p.Asn2027Tyr) c.6088A>T (p.Asn2030Tyr) c.191A>T c.6076A>T (p.Asn2026Tyr) c.6085A>T (p.Asn2029Tyr) c.6067A>T (p.Asn2023Tyr) n.8408A>T n.7397A>T | |
| 12 | g.49042119T>C | CA384626739 | KMT2D | c.870A>G c.6079A>G (p.Asn2027Asp) c.6088A>G (p.Asn2030Asp) c.191A>G c.6076A>G (p.Asn2026Asp) c.6085A>G (p.Asn2029Asp) c.6067A>G (p.Asn2023Asp) n.8408A>G n.7397A>G | |
| 12 | g.49042119T>G | CA384626736 | KMT2D | c.870A>C c.6079A>C (p.Asn2027His) c.6088A>C (p.Asn2030His) c.191A>C c.6076A>C (p.Asn2026His) c.6085A>C (p.Asn2029His) c.6067A>C (p.Asn2023His) n.8408A>C n.7397A>C | |
| 12 | g.49042120A= | CA2034947816 | KMT2D | c.869T= c.6078T= (p.Ile2026=) c.6087T= (p.Ile2029=) c.190T= c.6075T= (p.Ile2025=) c.6084T= (p.Ile2028=) c.6066T= (p.Ile2022=) n.8407T= n.7396T= | |
| 12 | g.49042120A>C | CA384626741 | KMT2D | c.869T>G c.6078T>G (p.Ile2026Met) c.6087T>G (p.Ile2029Met) c.190T>G c.6075T>G (p.Ile2025Met) c.6084T>G (p.Ile2028Met) c.6066T>G (p.Ile2022Met) n.8407T>G n.7396T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042120A>G | CA479511682 | KMT2D | c.869T>C c.6078T>C (p.Ile2026=) c.6087T>C (p.Ile2029=) c.190T>C c.6075T>C (p.Ile2025=) c.6084T>C (p.Ile2028=) c.6066T>C (p.Ile2022=) n.8407T>C n.7396T>C | |
| 12 | g.49042120A>T | CA479511681 | KMT2D | c.869T>A c.6078T>A (p.Ile2026=) c.6087T>A (p.Ile2029=) c.190T>A c.6075T>A (p.Ile2025=) c.6084T>A (p.Ile2028=) c.6066T>A (p.Ile2022=) n.8407T>A n.7396T>A | gnomAD v4 |
| 12 | g.49042121A>C | CA384626745 | KMT2D | c.868T>G c.6077T>G (p.Ile2026Ser) c.6086T>G (p.Ile2029Ser) c.189T>G c.6074T>G (p.Ile2025Ser) c.6083T>G (p.Ile2028Ser) c.6065T>G (p.Ile2022Ser) n.8406T>G n.7395T>G | |
| 12 | g.49042121A>G | CA384626742 | KMT2D | c.868T>C c.6077T>C (p.Ile2026Thr) c.6086T>C (p.Ile2029Thr) c.189T>C c.6074T>C (p.Ile2025Thr) c.6083T>C (p.Ile2028Thr) c.6065T>C (p.Ile2022Thr) n.8406T>C n.7395T>C | |
| 12 | g.49042121A>T | CA384626743 | KMT2D | c.868T>A c.6077T>A (p.Ile2026Asn) c.6086T>A (p.Ile2029Asn) c.189T>A c.6074T>A (p.Ile2025Asn) c.6083T>A (p.Ile2028Asn) c.6065T>A (p.Ile2022Asn) n.8406T>A n.7395T>A | |
| 12 | g.49042122T>A | CA384626746 | KMT2D | c.867A>T c.6076A>T (p.Ile2026Phe) c.6085A>T (p.Ile2029Phe) c.188A>T c.6073A>T (p.Ile2025Phe) c.6082A>T (p.Ile2028Phe) c.6064A>T (p.Ile2022Phe) n.8405A>T n.7394A>T | |
| 12 | g.49042122T>C | CA6547378 | KMT2D | c.867A>G c.6076A>G (p.Ile2026Val) c.6085A>G (p.Ile2029Val) c.188A>G c.6073A>G (p.Ile2025Val) c.6082A>G (p.Ile2028Val) c.6064A>G (p.Ile2022Val) n.8405A>G n.7394A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042122T>G | CA384626749 | KMT2D | c.867A>C c.6076A>C (p.Ile2026Leu) c.6085A>C (p.Ile2029Leu) c.188A>C c.6073A>C (p.Ile2025Leu) c.6082A>C (p.Ile2028Leu) c.6064A>C (p.Ile2022Leu) n.8405A>C n.7394A>C | gnomAD v4 |
| 12 | g.49042122T= | CA2034947820 | KMT2D | c.867A= c.6076A= (p.Ile2026=) c.6085A= (p.Ile2029=) c.188A= c.6073A= (p.Ile2025=) c.6082A= (p.Ile2028=) c.6064A= (p.Ile2022=) n.8405A= n.7394A= | |
| 12 | g.49042123G>A | CA479511686 | KMT2D | c.866C>T c.6075C>T (p.Asn2025=) c.6084C>T (p.Asn2028=) c.187C>T c.6072C>T (p.Asn2024=) c.6081C>T (p.Asn2027=) c.6063C>T (p.Asn2021=) n.8404C>T n.7393C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042123G>C | CA384626750 | KMT2D | c.866C>G c.6075C>G (p.Asn2025Lys) c.6084C>G (p.Asn2028Lys) c.187C>G c.6072C>G (p.Asn2024Lys) c.6081C>G (p.Asn2027Lys) c.6063C>G (p.Asn2021Lys) n.8404C>G n.7393C>G | |
| 12 | g.49042123G= | CA2034947822 | KMT2D | c.866C= c.6075C= (p.Asn2025=) c.6084C= (p.Asn2028=) c.187C= c.6072C= (p.Asn2024=) c.6081C= (p.Asn2027=) c.6063C= (p.Asn2021=) n.8404C= n.7393C= | |
| 12 | g.49042123G>T | CA384626752 | KMT2D | c.866C>A c.6075C>A (p.Asn2025Lys) c.6084C>A (p.Asn2028Lys) c.187C>A c.6072C>A (p.Asn2024Lys) c.6081C>A (p.Asn2027Lys) c.6063C>A (p.Asn2021Lys) n.8404C>A n.7393C>A | |
| 12 | g.49042124T>A | CA6547379 | KMT2D | c.865A>T c.6074A>T (p.Asn2025Ile) c.6083A>T (p.Asn2028Ile) c.186A>T c.6071A>T (p.Asn2024Ile) c.6080A>T (p.Asn2027Ile) c.6062A>T (p.Asn2021Ile) n.8403A>T n.7392A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042124T>C | CA384626756 | KMT2D | c.865A>G c.6074A>G (p.Asn2025Ser) c.6083A>G (p.Asn2028Ser) c.186A>G c.6071A>G (p.Asn2024Ser) c.6080A>G (p.Asn2027Ser) c.6062A>G (p.Asn2021Ser) n.8403A>G n.7392A>G | |
| 12 | g.49042124T>G | CA384626758 | KMT2D | c.865A>C c.6074A>C (p.Asn2025Thr) c.6083A>C (p.Asn2028Thr) c.186A>C c.6071A>C (p.Asn2024Thr) c.6080A>C (p.Asn2027Thr) c.6062A>C (p.Asn2021Thr) n.8403A>C n.7392A>C | |
| 12 | g.49042124T= | CA2034947823 | KMT2D | c.865A= c.6074A= (p.Asn2025=) c.6083A= (p.Asn2028=) c.186A= c.6071A= (p.Asn2024=) c.6080A= (p.Asn2027=) c.6062A= (p.Asn2021=) n.8403A= n.7392A= | |
| 12 | g.49042125T>A | CA384626760 | KMT2D | c.864A>T c.6073A>T (p.Asn2025Tyr) c.6082A>T (p.Asn2028Tyr) c.185A>T c.6070A>T (p.Asn2024Tyr) c.6079A>T (p.Asn2027Tyr) c.6061A>T (p.Asn2021Tyr) n.8402A>T n.7391A>T | |
| 12 | g.49042125T>C | CA6547380 | KMT2D | c.864A>G c.6073A>G (p.Asn2025Asp) c.6082A>G (p.Asn2028Asp) c.185A>G c.6070A>G (p.Asn2024Asp) c.6079A>G (p.Asn2027Asp) c.6061A>G (p.Asn2021Asp) n.8402A>G n.7391A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.49042125T>G | CA384626761 | KMT2D | c.864A>C c.6073A>C (p.Asn2025His) c.6082A>C (p.Asn2028His) c.185A>C c.6070A>C (p.Asn2024His) c.6079A>C (p.Asn2027His) c.6061A>C (p.Asn2021His) n.8402A>C n.7391A>C | |
| 12 | g.49042125T= | CA2034947824 | KMT2D | c.864A= c.6073A= (p.Asn2025=) c.6082A= (p.Asn2028=) c.185A= c.6070A= (p.Asn2024=) c.6079A= (p.Asn2027=) c.6061A= (p.Asn2021=) n.8402A= n.7391A= | |
| 12 | g.49042126G>A | CA479511689 | KMT2D | c.863C>T c.6072C>T (p.Ala2024=) c.6081C>T (p.Ala2027=) c.184C>T c.6069C>T (p.Ala2023=) c.6078C>T (p.Ala2026=) c.6060C>T (p.Ala2020=) n.8401C>T n.7390C>T | |
| 12 | g.49042126G>C | CA479511690 | KMT2D | c.863C>G c.6072C>G (p.Ala2024=) c.6081C>G (p.Ala2027=) c.184C>G c.6069C>G (p.Ala2023=) c.6078C>G (p.Ala2026=) c.6060C>G (p.Ala2020=) n.8401C>G n.7390C>G | |
| 12 | g.49042126G>T | CA479511691 | KMT2D | c.863C>A c.6072C>A (p.Ala2024=) c.6081C>A (p.Ala2027=) c.184C>A c.6069C>A (p.Ala2023=) c.6078C>A (p.Ala2026=) c.6060C>A (p.Ala2020=) n.8401C>A n.7390C>A | dbSNP |
| 12 | g.49042127G>A | CA384626764 | KMT2D | c.862C>T c.6071C>T (p.Ala2024Val) c.6080C>T (p.Ala2027Val) c.183C>T c.6068C>T (p.Ala2023Val) c.6077C>T (p.Ala2026Val) c.6059C>T (p.Ala2020Val) n.8400C>T n.7389C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042127G>C | CA384626767 | KMT2D | c.862C>G c.6071C>G (p.Ala2024Gly) c.6080C>G (p.Ala2027Gly) c.183C>G c.6068C>G (p.Ala2023Gly) c.6077C>G (p.Ala2026Gly) c.6059C>G (p.Ala2020Gly) n.8400C>G n.7389C>G | |
| 12 | g.49042127G= | CA2034947825 | KMT2D | c.862C= c.6071C= (p.Ala2024=) c.6080C= (p.Ala2027=) c.183C= c.6068C= (p.Ala2023=) c.6077C= (p.Ala2026=) c.6059C= (p.Ala2020=) n.8400C= n.7389C= | |
| 12 | g.49042127G>T | CA384626766 | KMT2D | c.862C>A c.6071C>A (p.Ala2024Asp) c.6080C>A (p.Ala2027Asp) c.183C>A c.6068C>A (p.Ala2023Asp) c.6077C>A (p.Ala2026Asp) c.6059C>A (p.Ala2020Asp) n.8400C>A n.7389C>A | |
| 12 | g.49042128C>A | CA384626769 | KMT2D | c.861G>T c.6070G>T (p.Ala2024Ser) c.6079G>T (p.Ala2027Ser) c.182G>T c.6067G>T (p.Ala2023Ser) c.6076G>T (p.Ala2026Ser) c.6058G>T (p.Ala2020Ser) n.8399G>T n.7388G>T | |
| 12 | g.49042128C>G | CA384626771 | KMT2D | c.861G>C c.6070G>C (p.Ala2024Pro) c.6079G>C (p.Ala2027Pro) c.182G>C c.6067G>C (p.Ala2023Pro) c.6076G>C (p.Ala2026Pro) c.6058G>C (p.Ala2020Pro) n.8399G>C n.7388G>C | dbSNP |
| 12 | g.49042128C>T | CA384626772 | KMT2D | c.861G>A c.6070G>A (p.Ala2024Thr) c.6079G>A (p.Ala2027Thr) c.182G>A c.6067G>A (p.Ala2023Thr) c.6076G>A (p.Ala2026Thr) c.6058G>A (p.Ala2020Thr) n.8399G>A n.7388G>A | dbSNP COSMIC COSMIC |
| 12 | g.49042129A>C | CA384626773 | KMT2D | c.860T>G c.6069T>G (p.Tyr2023Ter) c.6078T>G (p.Tyr2026Ter) c.181T>G c.6066T>G (p.Tyr2022Ter) c.6075T>G (p.Tyr2025Ter) c.6057T>G (p.Tyr2019Ter) n.8398T>G n.7387T>G | |
| 12 | g.49042129A>G | CA479511692 | KMT2D | c.860T>C c.6069T>C (p.Tyr2023=) c.6078T>C (p.Tyr2026=) c.181T>C c.6066T>C (p.Tyr2022=) c.6075T>C (p.Tyr2025=) c.6057T>C (p.Tyr2019=) n.8398T>C n.7387T>C | ClinVar gnomAD v4 |
| 12 | g.49042129A>T | CA384626775 | KMT2D | c.860T>A c.6069T>A (p.Tyr2023Ter) c.6078T>A (p.Tyr2026Ter) c.181T>A c.6066T>A (p.Tyr2022Ter) c.6075T>A (p.Tyr2025Ter) c.6057T>A (p.Tyr2019Ter) n.8398T>A n.7387T>A | |
| 12 | g.49042130T>A | CA384626778 | KMT2D | c.859A>T c.6068A>T (p.Tyr2023Phe) c.6077A>T (p.Tyr2026Phe) c.180A>T c.6065A>T (p.Tyr2022Phe) c.6074A>T (p.Tyr2025Phe) c.6056A>T (p.Tyr2019Phe) n.8397A>T n.7386A>T | |
| 12 | g.49042130T>C | CA384626779 | KMT2D | c.859A>G c.6068A>G (p.Tyr2023Cys) c.6077A>G (p.Tyr2026Cys) c.180A>G c.6065A>G (p.Tyr2022Cys) c.6074A>G (p.Tyr2025Cys) c.6056A>G (p.Tyr2019Cys) n.8397A>G n.7386A>G | dbSNP |
| 12 | g.49042130T>G | CA384626781 | KMT2D | c.859A>C c.6068A>C (p.Tyr2023Ser) c.6077A>C (p.Tyr2026Ser) c.180A>C c.6065A>C (p.Tyr2022Ser) c.6074A>C (p.Tyr2025Ser) c.6056A>C (p.Tyr2019Ser) n.8397A>C n.7386A>C | gnomAD v4 |
| 12 | g.49042130T= | CA2034947826 | KMT2D | c.859A= c.6068A= (p.Tyr2023=) c.6077A= (p.Tyr2026=) c.180A= c.6065A= (p.Tyr2022=) c.6074A= (p.Tyr2025=) c.6056A= (p.Tyr2019=) n.8397A= n.7386A= | |
| 12 | g.49042131A>C | CA384626783 | KMT2D | c.858T>G c.6067T>G (p.Tyr2023Asp) c.6076T>G (p.Tyr2026Asp) c.179T>G c.6064T>G (p.Tyr2022Asp) c.6073T>G (p.Tyr2025Asp) c.6055T>G (p.Tyr2019Asp) n.8396T>G n.7385T>G | |
| 12 | g.49042131A>G | CA384626785 | KMT2D | c.858T>C c.6067T>C (p.Tyr2023His) c.6076T>C (p.Tyr2026His) c.179T>C c.6064T>C (p.Tyr2022His) c.6073T>C (p.Tyr2025His) c.6055T>C (p.Tyr2019His) n.8396T>C n.7385T>C | |
| 12 | g.49042131A>T | CA384626786 | KMT2D | c.858T>A c.6067T>A (p.Tyr2023Asn) c.6076T>A (p.Tyr2026Asn) c.179T>A c.6064T>A (p.Tyr2022Asn) c.6073T>A (p.Tyr2025Asn) c.6055T>A (p.Tyr2019Asn) n.8396T>A n.7385T>A | |
| 12 | g.49042132G>A | CA6547381 | KMT2D | c.857C>T c.6066C>T (p.Leu2022=) c.6075C>T (p.Leu2025=) c.178C>T c.6063C>T (p.Leu2021=) c.6072C>T (p.Leu2024=) c.6054C>T (p.Leu2018=) n.8395C>T n.7384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042132G>C | CA479511694 | KMT2D | c.857C>G c.6066C>G (p.Leu2022=) c.6075C>G (p.Leu2025=) c.178C>G c.6063C>G (p.Leu2021=) c.6072C>G (p.Leu2024=) c.6054C>G (p.Leu2018=) n.8395C>G n.7384C>G | gnomAD v4 |
| 12 | g.49042132G= | CA2034947827 | KMT2D | c.857C= c.6066C= (p.Leu2022=) c.6075C= (p.Leu2025=) c.178C= c.6063C= (p.Leu2021=) c.6072C= (p.Leu2024=) c.6054C= (p.Leu2018=) n.8395C= n.7384C= | |
| 12 | g.49042132G>T | CA479511695 | KMT2D | c.857C>A c.6066C>A (p.Leu2022=) c.6075C>A (p.Leu2025=) c.178C>A c.6063C>A (p.Leu2021=) c.6072C>A (p.Leu2024=) c.6054C>A (p.Leu2018=) n.8395C>A n.7384C>A | |
| 12 | g.49042133A>C | CA384626789 | KMT2D | c.856T>G c.6065T>G (p.Leu2022Arg) c.6074T>G (p.Leu2025Arg) c.177T>G c.6062T>G (p.Leu2021Arg) c.6071T>G (p.Leu2024Arg) c.6053T>G (p.Leu2018Arg) n.8394T>G n.7383T>G | |
| 12 | g.49042133A>G | CA384626787 | KMT2D | c.856T>C c.6065T>C (p.Leu2022Pro) c.6074T>C (p.Leu2025Pro) c.177T>C c.6062T>C (p.Leu2021Pro) c.6071T>C (p.Leu2024Pro) c.6053T>C (p.Leu2018Pro) n.8394T>C n.7383T>C | |
| 12 | g.49042133A>T | CA384626788 | KMT2D | c.856T>A c.6065T>A (p.Leu2022His) c.6074T>A (p.Leu2025His) c.177T>A c.6062T>A (p.Leu2021His) c.6071T>A (p.Leu2024His) c.6053T>A (p.Leu2018His) n.8394T>A n.7383T>A | |
| 12 | g.49042134G>A | CA384626791 | KMT2D | c.855C>T c.6064C>T (p.Leu2022Phe) c.6073C>T (p.Leu2025Phe) c.176C>T c.6061C>T (p.Leu2021Phe) c.6070C>T (p.Leu2024Phe) c.6052C>T (p.Leu2018Phe) n.8393C>T n.7382C>T | dbSNP |
| 12 | g.49042134G>C | CA384626793 | KMT2D | c.855C>G c.6064C>G (p.Leu2022Val) c.6073C>G (p.Leu2025Val) c.176C>G c.6061C>G (p.Leu2021Val) c.6070C>G (p.Leu2024Val) c.6052C>G (p.Leu2018Val) n.8393C>G n.7382C>G | |
| 12 | g.49042134G>T | CA384626795 | KMT2D | c.855C>A c.6064C>A (p.Leu2022Ile) c.6073C>A (p.Leu2025Ile) c.176C>A c.6061C>A (p.Leu2021Ile) c.6070C>A (p.Leu2024Ile) c.6052C>A (p.Leu2018Ile) n.8393C>A n.7382C>A | |
| 12 | g.49042135C>A | CA479511697 | KMT2D | c.854G>T c.6063G>T (p.Val2021=) c.6072G>T (p.Val2024=) c.175G>T c.6060G>T (p.Val2020=) c.6069G>T (p.Val2023=) c.6051G>T (p.Val2017=) n.8392G>T n.7381G>T | |
| 12 | g.49042135C>G | CA479511699 | KMT2D | c.854G>C c.6063G>C (p.Val2021=) c.6072G>C (p.Val2024=) c.175G>C c.6060G>C (p.Val2020=) c.6069G>C (p.Val2023=) c.6051G>C (p.Val2017=) n.8392G>C n.7381G>C | |
| 12 | g.49042135C>T | CA479511701 | KMT2D | c.854G>A c.6063G>A (p.Val2021=) c.6072G>A (p.Val2024=) c.175G>A c.6060G>A (p.Val2020=) c.6069G>A (p.Val2023=) c.6051G>A (p.Val2017=) n.8392G>A n.7381G>A | |
| 12 | g.49042136A>C | CA384626799 | KMT2D | c.853T>G c.6062T>G (p.Val2021Gly) c.6071T>G (p.Val2024Gly) c.174T>G c.6059T>G (p.Val2020Gly) c.6068T>G (p.Val2023Gly) c.6050T>G (p.Val2017Gly) n.8391T>G n.7380T>G | |
| 12 | g.49042136A>G | CA384626797 | KMT2D | c.853T>C c.6062T>C (p.Val2021Ala) c.6071T>C (p.Val2024Ala) c.174T>C c.6059T>C (p.Val2020Ala) c.6068T>C (p.Val2023Ala) c.6050T>C (p.Val2017Ala) n.8391T>C n.7380T>C | |
| 12 | g.49042136A>T | CA384626796 | KMT2D | c.853T>A c.6062T>A (p.Val2021Glu) c.6071T>A (p.Val2024Glu) c.174T>A c.6059T>A (p.Val2020Glu) c.6068T>A (p.Val2023Glu) c.6050T>A (p.Val2017Glu) n.8391T>A n.7380T>A | |
| 12 | g.49042137C>A | CA384626801 | KMT2D | c.852G>T c.6061G>T (p.Val2021Leu) c.6070G>T (p.Val2024Leu) c.173G>T c.6058G>T (p.Val2020Leu) c.6067G>T (p.Val2023Leu) c.6049G>T (p.Val2017Leu) n.8390G>T n.7379G>T | |
| 12 | g.49042137C= | CA2034947828 | KMT2D | c.852G= c.6061G= (p.Val2021=) c.6070G= (p.Val2024=) c.173G= c.6058G= (p.Val2020=) c.6067G= (p.Val2023=) c.6049G= (p.Val2017=) n.8390G= n.7379G= | |
| 12 | g.49042137C>G | CA384626802 | KMT2D | c.852G>C c.6061G>C (p.Val2021Leu) c.6070G>C (p.Val2024Leu) c.173G>C c.6058G>C (p.Val2020Leu) c.6067G>C (p.Val2023Leu) c.6049G>C (p.Val2017Leu) n.8390G>C n.7379G>C | dbSNP |
| 12 | g.49042137C>T | CA384626804 | KMT2D | c.852G>A c.6061G>A (p.Val2021Met) c.6070G>A (p.Val2024Met) c.173G>A c.6058G>A (p.Val2020Met) c.6067G>A (p.Val2023Met) c.6049G>A (p.Val2017Met) n.8390G>A n.7379G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042138A>C | CA479511704 | KMT2D | c.851T>G c.6060T>G (p.Pro2020=) c.6069T>G (p.Pro2023=) c.172T>G c.6057T>G (p.Pro2019=) c.6066T>G (p.Pro2022=) c.6048T>G (p.Pro2016=) n.8389T>G n.7378T>G | |
| 12 | g.49042138A>G | CA479511707 | KMT2D | c.851T>C c.6060T>C (p.Pro2020=) c.6069T>C (p.Pro2023=) c.172T>C c.6057T>C (p.Pro2019=) c.6066T>C (p.Pro2022=) c.6048T>C (p.Pro2016=) n.8389T>C n.7378T>C | dbSNP |
| 12 | g.49042138A>T | CA479511708 | KMT2D | c.851T>A c.6060T>A (p.Pro2020=) c.6069T>A (p.Pro2023=) c.172T>A c.6057T>A (p.Pro2019=) c.6066T>A (p.Pro2022=) c.6048T>A (p.Pro2016=) n.8389T>A n.7378T>A | |
| 12 | g.49042139G>A | CA384626806 | KMT2D | c.850C>T c.6059C>T (p.Pro2020Leu) c.6068C>T (p.Pro2023Leu) c.171C>T c.6056C>T (p.Pro2019Leu) c.6065C>T (p.Pro2022Leu) c.6047C>T (p.Pro2016Leu) n.8388C>T n.7377C>T | dbSNP |
| 12 | g.49042139G>C | CA384626807 | KMT2D | c.850C>G c.6059C>G (p.Pro2020Arg) c.6068C>G (p.Pro2023Arg) c.171C>G c.6056C>G (p.Pro2019Arg) c.6065C>G (p.Pro2022Arg) c.6047C>G (p.Pro2016Arg) n.8388C>G n.7377C>G | |
| 12 | g.49042139G>T | CA384626809 | KMT2D | c.850C>A c.6059C>A (p.Pro2020His) c.6068C>A (p.Pro2023His) c.171C>A c.6056C>A (p.Pro2019His) c.6065C>A (p.Pro2022His) c.6047C>A (p.Pro2016His) n.8388C>A n.7377C>A | |
| 12 | g.49042140G>A | CA236612494 | KMT2D | c.849C>T c.6058C>T (p.Pro2020Ser) c.6067C>T (p.Pro2023Ser) c.170C>T c.6055C>T (p.Pro2019Ser) c.6064C>T (p.Pro2022Ser) c.6046C>T (p.Pro2016Ser) n.8387C>T n.7376C>T | ClinVar dbSNP |
| 12 | g.49042140G>C | CA384626814 | KMT2D | c.849C>G c.6058C>G (p.Pro2020Ala) c.6067C>G (p.Pro2023Ala) c.170C>G c.6055C>G (p.Pro2019Ala) c.6064C>G (p.Pro2022Ala) c.6046C>G (p.Pro2016Ala) n.8387C>G n.7376C>G | |
| 12 | g.49042140G= | CA2034947829 | KMT2D | c.849C= c.6058C= (p.Pro2020=) c.6067C= (p.Pro2023=) c.170C= c.6055C= (p.Pro2019=) c.6064C= (p.Pro2022=) c.6046C= (p.Pro2016=) n.8387C= n.7376C= | |
| 12 | g.49042140G>T | CA384626812 | KMT2D | c.849C>A c.6058C>A (p.Pro2020Thr) c.6067C>A (p.Pro2023Thr) c.170C>A c.6055C>A (p.Pro2019Thr) c.6064C>A (p.Pro2022Thr) c.6046C>A (p.Pro2016Thr) n.8387C>A n.7376C>A | |
| 12 | g.49042141T>A | CA479511710 | KMT2D | c.848A>T c.6057A>T (p.Ser2019=) c.6066A>T (p.Ser2022=) c.169A>T c.6054A>T (p.Ser2018=) c.6063A>T (p.Ser2021=) c.6045A>T (p.Ser2015=) n.8386A>T n.7375A>T | dbSNP |
| 12 | g.49042141T>C | CA479511711 | KMT2D | c.848A>G c.6057A>G (p.Ser2019=) c.6066A>G (p.Ser2022=) c.169A>G c.6054A>G (p.Ser2018=) c.6063A>G (p.Ser2021=) c.6045A>G (p.Ser2015=) n.8386A>G n.7375A>G | |
| 12 | g.49042141T>G | CA479511712 | KMT2D | c.848A>C c.6057A>C (p.Ser2019=) c.6066A>C (p.Ser2022=) c.169A>C c.6054A>C (p.Ser2018=) c.6063A>C (p.Ser2021=) c.6045A>C (p.Ser2015=) n.8386A>C n.7375A>C | gnomAD v4 |
| 12 | g.49042142G>A | CA236612497 | KMT2D | c.847C>T c.6056C>T (p.Ser2019Leu) c.6065C>T (p.Ser2022Leu) c.168C>T c.6053C>T (p.Ser2018Leu) c.6062C>T (p.Ser2021Leu) c.6044C>T (p.Ser2015Leu) n.8385C>T n.7374C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042142G>C | CA384626819 | KMT2D | c.847C>G c.6056C>G (p.Ser2019Ter) c.6065C>G (p.Ser2022Ter) c.168C>G c.6053C>G (p.Ser2018Ter) c.6062C>G (p.Ser2021Ter) c.6044C>G (p.Ser2015Ter) n.8385C>G n.7374C>G | |
| 12 | g.49042142G= | CA2034947831 | KMT2D | c.847C= c.6056C= (p.Ser2019=) c.6065C= (p.Ser2022=) c.168C= c.6053C= (p.Ser2018=) c.6062C= (p.Ser2021=) c.6044C= (p.Ser2015=) n.8385C= n.7374C= | |
| 12 | g.49042142G>T | CA384626827 | KMT2D | c.847C>A c.6056C>A (p.Ser2019Ter) c.6065C>A (p.Ser2022Ter) c.168C>A c.6053C>A (p.Ser2018Ter) c.6062C>A (p.Ser2021Ter) c.6044C>A (p.Ser2015Ter) n.8385C>A n.7374C>A | |
| 12 | g.49042143A>C | CA384626830 | KMT2D | c.846T>G c.6055T>G (p.Ser2019Ala) c.6064T>G (p.Ser2022Ala) c.167T>G c.6052T>G (p.Ser2018Ala) c.6061T>G (p.Ser2021Ala) c.6043T>G (p.Ser2015Ala) n.8384T>G n.7373T>G | |
| 12 | g.49042143A>G | CA384626832 | KMT2D | c.846T>C c.6055T>C (p.Ser2019Pro) c.6064T>C (p.Ser2022Pro) c.167T>C c.6052T>C (p.Ser2018Pro) c.6061T>C (p.Ser2021Pro) c.6043T>C (p.Ser2015Pro) n.8384T>C n.7373T>C | dbSNP |
| 12 | g.49042143A>T | CA384626834 | KMT2D | c.846T>A c.6055T>A (p.Ser2019Thr) c.6064T>A (p.Ser2022Thr) c.167T>A c.6052T>A (p.Ser2018Thr) c.6061T>A (p.Ser2021Thr) c.6043T>A (p.Ser2015Thr) n.8384T>A n.7373T>A | gnomAD v4 |
| 12 | g.49042144G>A | CA479511714 | KMT2D | c.845C>T c.6054C>T (p.Ile2018=) c.6063C>T (p.Ile2021=) c.166C>T c.6051C>T (p.Ile2017=) c.6060C>T (p.Ile2020=) c.6042C>T (p.Ile2014=) n.8383C>T n.7372C>T | gnomAD v4 |
| 12 | g.49042144G>C | CA384626835 | KMT2D | c.845C>G c.6054C>G (p.Ile2018Met) c.6063C>G (p.Ile2021Met) c.166C>G c.6051C>G (p.Ile2017Met) c.6060C>G (p.Ile2020Met) c.6042C>G (p.Ile2014Met) n.8383C>G n.7372C>G | |
| 12 | g.49042144G>T | CA479511715 | KMT2D | c.845C>A c.6054C>A (p.Ile2018=) c.6063C>A (p.Ile2021=) c.166C>A c.6051C>A (p.Ile2017=) c.6060C>A (p.Ile2020=) c.6042C>A (p.Ile2014=) n.8383C>A n.7372C>A | |
| 12 | g.49042145A>C | CA384626836 | KMT2D | c.844T>G c.6053T>G (p.Ile2018Ser) c.6062T>G (p.Ile2021Ser) c.165T>G c.6050T>G (p.Ile2017Ser) c.6059T>G (p.Ile2020Ser) c.6041T>G (p.Ile2014Ser) n.8382T>G n.7371T>G | |
| 12 | g.49042145A>G | CA384626837 | KMT2D | c.844T>C c.6053T>C (p.Ile2018Thr) c.6062T>C (p.Ile2021Thr) c.165T>C c.6050T>C (p.Ile2017Thr) c.6059T>C (p.Ile2020Thr) c.6041T>C (p.Ile2014Thr) n.8382T>C n.7371T>C | |
| 12 | g.49042145A>T | CA384626838 | KMT2D | c.844T>A c.6053T>A (p.Ile2018Asn) c.6062T>A (p.Ile2021Asn) c.165T>A c.6050T>A (p.Ile2017Asn) c.6059T>A (p.Ile2020Asn) c.6041T>A (p.Ile2014Asn) n.8382T>A n.7371T>A | |
| 12 | g.49042146T>A | CA384626841 | KMT2D | c.843A>T c.6052A>T (p.Ile2018Phe) c.6061A>T (p.Ile2021Phe) c.164A>T c.6049A>T (p.Ile2017Phe) c.6058A>T (p.Ile2020Phe) c.6040A>T (p.Ile2014Phe) n.8381A>T n.7370A>T | |
| 12 | g.49042146T>C | CA384626840 | KMT2D | c.843A>G c.6052A>G (p.Ile2018Val) c.6061A>G (p.Ile2021Val) c.164A>G c.6049A>G (p.Ile2017Val) c.6058A>G (p.Ile2020Val) c.6040A>G (p.Ile2014Val) n.8381A>G n.7370A>G | |
| 12 | g.49042146T>G | CA384626839 | KMT2D | c.843A>C c.6052A>C (p.Ile2018Leu) c.6061A>C (p.Ile2021Leu) c.164A>C c.6049A>C (p.Ile2017Leu) c.6058A>C (p.Ile2020Leu) c.6040A>C (p.Ile2014Leu) n.8381A>C n.7370A>C | dbSNP |
| 12 | g.49042147G>A | CA479511719 | KMT2D | c.842C>T c.6051C>T (p.Thr2017=) c.6060C>T (p.Thr2020=) c.163C>T c.6048C>T (p.Thr2016=) c.6057C>T (p.Thr2019=) c.6039C>T (p.Thr2013=) n.8380C>T n.7369C>T | ClinVar |
| 12 | g.49042147G>C | CA479511720 | KMT2D | c.842C>G c.6051C>G (p.Thr2017=) c.6060C>G (p.Thr2020=) c.163C>G c.6048C>G (p.Thr2016=) c.6057C>G (p.Thr2019=) c.6039C>G (p.Thr2013=) n.8380C>G n.7369C>G | |
| 12 | g.49042147G>T | CA479511721 | KMT2D | c.842C>A c.6051C>A (p.Thr2017=) c.6060C>A (p.Thr2020=) c.163C>A c.6048C>A (p.Thr2016=) c.6057C>A (p.Thr2019=) c.6039C>A (p.Thr2013=) n.8380C>A n.7369C>A | |
| 12 | g.49042148G>A | CA384626843 | KMT2D | c.841C>T c.6050C>T (p.Thr2017Ile) c.6059C>T (p.Thr2020Ile) c.162C>T c.6047C>T (p.Thr2016Ile) c.6056C>T (p.Thr2019Ile) c.6038C>T (p.Thr2013Ile) n.8379C>T n.7368C>T | dbSNP |
| 12 | g.49042148G>C | CA384626848 | KMT2D | c.841C>G c.6050C>G (p.Thr2017Ser) c.6059C>G (p.Thr2020Ser) c.162C>G c.6047C>G (p.Thr2016Ser) c.6056C>G (p.Thr2019Ser) c.6038C>G (p.Thr2013Ser) n.8379C>G n.7368C>G | COSMIC |
| 12 | g.49042148G>T | CA384626846 | KMT2D | c.841C>A c.6050C>A (p.Thr2017Asn) c.6059C>A (p.Thr2020Asn) c.162C>A c.6047C>A (p.Thr2016Asn) c.6056C>A (p.Thr2019Asn) c.6038C>A (p.Thr2013Asn) n.8379C>A n.7368C>A | |
| 12 | g.49042149T>A | CA384626851 | KMT2D | c.840A>T c.6049A>T (p.Thr2017Ser) c.6058A>T (p.Thr2020Ser) c.161A>T c.6046A>T (p.Thr2016Ser) c.6055A>T (p.Thr2019Ser) c.6037A>T (p.Thr2013Ser) n.8378A>T n.7367A>T | dbSNP |
| 12 | g.49042149T>C | CA6547382 | KMT2D | c.840A>G c.6049A>G (p.Thr2017Ala) c.6058A>G (p.Thr2020Ala) c.161A>G c.6046A>G (p.Thr2016Ala) c.6055A>G (p.Thr2019Ala) c.6037A>G (p.Thr2013Ala) n.8378A>G n.7367A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49042149T>G | CA384626854 | KMT2D | c.840A>C c.6049A>C (p.Thr2017Pro) c.6058A>C (p.Thr2020Pro) c.161A>C c.6046A>C (p.Thr2016Pro) c.6055A>C (p.Thr2019Pro) c.6037A>C (p.Thr2013Pro) n.8378A>C n.7367A>C | |
| 12 | g.49042149T= | CA2034947832 | KMT2D | c.840A= c.6049A= (p.Thr2017=) c.6058A= (p.Thr2020=) c.161A= c.6046A= (p.Thr2016=) c.6055A= (p.Thr2019=) c.6037A= (p.Thr2013=) n.8378A= n.7367A= | |
| 12 | g.49042150G>A | CA479511728 | KMT2D | c.839C>T c.6048C>T (p.Ser2016=) c.6057C>T (p.Ser2019=) c.160C>T c.6045C>T (p.Ser2015=) c.6054C>T (p.Ser2018=) c.6036C>T (p.Ser2012=) n.8377C>T n.7366C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042150G>C | CA479511726 | KMT2D | c.839C>G c.6048C>G (p.Ser2016=) c.6057C>G (p.Ser2019=) c.160C>G c.6045C>G (p.Ser2015=) c.6054C>G (p.Ser2018=) c.6036C>G (p.Ser2012=) n.8377C>G n.7366C>G | |
| 12 | g.49042150G= | CA2034947840 | KMT2D | c.839C= c.6048C= (p.Ser2016=) c.6057C= (p.Ser2019=) c.160C= c.6045C= (p.Ser2015=) c.6054C= (p.Ser2018=) c.6036C= (p.Ser2012=) n.8377C= n.7366C= | |
| 12 | g.49042150G>T | CA479511725 | KMT2D | c.839C>A c.6048C>A (p.Ser2016=) c.6057C>A (p.Ser2019=) c.160C>A c.6045C>A (p.Ser2015=) c.6054C>A (p.Ser2018=) c.6036C>A (p.Ser2012=) n.8377C>A n.7366C>A | COSMIC COSMIC |
| 12 | g.49042151G>A | CA384626857 | KMT2D | c.838C>T c.6047C>T (p.Ser2016Phe) c.6056C>T (p.Ser2019Phe) c.159C>T c.6044C>T (p.Ser2015Phe) c.6053C>T (p.Ser2018Phe) c.6035C>T (p.Ser2012Phe) n.8376C>T n.7365C>T | |
| 12 | g.49042151G>C | CA384626859 | KMT2D | c.838C>G c.6047C>G (p.Ser2016Cys) c.6056C>G (p.Ser2019Cys) c.159C>G c.6044C>G (p.Ser2015Cys) c.6053C>G (p.Ser2018Cys) c.6035C>G (p.Ser2012Cys) n.8376C>G n.7365C>G | |
| 12 | g.49042151G>T | CA384626862 | KMT2D | c.838C>A c.6047C>A (p.Ser2016Tyr) c.6056C>A (p.Ser2019Tyr) c.159C>A c.6044C>A (p.Ser2015Tyr) c.6053C>A (p.Ser2018Tyr) c.6035C>A (p.Ser2012Tyr) n.8376C>A n.7365C>A | |
| 12 | g.49042152A>C | CA384626866 | KMT2D | c.837T>G c.6046T>G (p.Ser2016Ala) c.6055T>G (p.Ser2019Ala) c.158T>G c.6043T>G (p.Ser2015Ala) c.6052T>G (p.Ser2018Ala) c.6034T>G (p.Ser2012Ala) n.8375T>G n.7364T>G | |
| 12 | g.49042152A>G | CA384626868 | KMT2D | c.837T>C c.6046T>C (p.Ser2016Pro) c.6055T>C (p.Ser2019Pro) c.158T>C c.6043T>C (p.Ser2015Pro) c.6052T>C (p.Ser2018Pro) c.6034T>C (p.Ser2012Pro) n.8375T>C n.7364T>C | |
| 12 | g.49042152A>T | CA384626870 | KMT2D | c.837T>A c.6046T>A (p.Ser2016Thr) c.6055T>A (p.Ser2019Thr) c.158T>A c.6043T>A (p.Ser2015Thr) c.6052T>A (p.Ser2018Thr) c.6034T>A (p.Ser2012Thr) n.8375T>A n.7364T>A | |
| 12 | g.49042153C>A | CA479511729 | KMT2D | c.836G>T c.6045G>T (p.Leu2015=) c.6054G>T (p.Leu2018=) c.157G>T c.6042G>T (p.Leu2014=) c.6051G>T (p.Leu2017=) c.6033G>T (p.Leu2011=) n.8374G>T n.7363G>T | |
| 12 | g.49042153C>G | CA479511730 | KMT2D | c.836G>C c.6045G>C (p.Leu2015=) c.6054G>C (p.Leu2018=) c.157G>C c.6042G>C (p.Leu2014=) c.6051G>C (p.Leu2017=) c.6033G>C (p.Leu2011=) n.8374G>C n.7363G>C | |
| 12 | g.49042153C>T | CA479511733 | KMT2D | c.836G>A c.6045G>A (p.Leu2015=) c.6054G>A (p.Leu2018=) c.157G>A c.6042G>A (p.Leu2014=) c.6051G>A (p.Leu2017=) c.6033G>A (p.Leu2011=) n.8374G>A n.7363G>A | dbSNP |
| 12 | g.49042154A= | CA2034947841 | KMT2D | c.835T= c.6044T= (p.Leu2015=) c.6053T= (p.Leu2018=) c.156T= c.6041T= (p.Leu2014=) c.6050T= (p.Leu2017=) c.6032T= (p.Leu2011=) n.8373T= n.7362T= | |
| 12 | g.49042154A>C | CA384626876 | KMT2D | c.835T>G c.6044T>G (p.Leu2015Arg) c.6053T>G (p.Leu2018Arg) c.156T>G c.6041T>G (p.Leu2014Arg) c.6050T>G (p.Leu2017Arg) c.6032T>G (p.Leu2011Arg) n.8373T>G n.7362T>G | |
| 12 | g.49042154A>G | CA384626877 | KMT2D | c.835T>C c.6044T>C (p.Leu2015Pro) c.6053T>C (p.Leu2018Pro) c.156T>C c.6041T>C (p.Leu2014Pro) c.6050T>C (p.Leu2017Pro) c.6032T>C (p.Leu2011Pro) n.8373T>C n.7362T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042154A>T | CA384626879 | KMT2D | c.835T>A c.6044T>A (p.Leu2015Gln) c.6053T>A (p.Leu2018Gln) c.156T>A c.6041T>A (p.Leu2014Gln) c.6050T>A (p.Leu2017Gln) c.6032T>A (p.Leu2011Gln) n.8373T>A n.7362T>A | |
| 12 | g.49042155G>A | CA479511735 | KMT2D | c.834C>T c.6043C>T (p.Leu2015=) c.6052C>T (p.Leu2018=) c.155C>T c.6040C>T (p.Leu2014=) c.6049C>T (p.Leu2017=) c.6031C>T (p.Leu2011=) n.8372C>T n.7361C>T | ClinVar dbSNP |
| 12 | g.49042155G>C | CA384626882 | KMT2D | c.834C>G c.6043C>G (p.Leu2015Val) c.6052C>G (p.Leu2018Val) c.155C>G c.6040C>G (p.Leu2014Val) c.6049C>G (p.Leu2017Val) c.6031C>G (p.Leu2011Val) n.8372C>G n.7361C>G | |
| 12 | g.49042155G>T | CA384626883 | KMT2D | c.834C>A c.6043C>A (p.Leu2015Met) c.6052C>A (p.Leu2018Met) c.155C>A c.6040C>A (p.Leu2014Met) c.6049C>A (p.Leu2017Met) c.6031C>A (p.Leu2011Met) n.8372C>A n.7361C>A | |
| 12 | g.49042156C>A | CA384626885 | KMT2D | c.833G>T c.6042G>T (p.Gln2014His) c.6051G>T (p.Gln2017His) c.154G>T c.6039G>T (p.Gln2013His) c.6048G>T (p.Gln2016His) c.6030G>T (p.Gln2010His) n.8371G>T n.7360G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042156C= | CA2034947842 | KMT2D | c.833G= c.6042G= (p.Gln2014=) c.6051G= (p.Gln2017=) c.154G= c.6039G= (p.Gln2013=) c.6048G= (p.Gln2016=) c.6030G= (p.Gln2010=) n.8371G= n.7360G= | |
| 12 | g.49042156C>G | CA384626887 | KMT2D | c.833G>C c.6042G>C (p.Gln2014His) c.6051G>C (p.Gln2017His) c.154G>C c.6039G>C (p.Gln2013His) c.6048G>C (p.Gln2016His) c.6030G>C (p.Gln2010His) n.8371G>C n.7360G>C | |
| 12 | g.49042156C>T | CA479511738 | KMT2D | c.833G>A c.6042G>A (p.Gln2014=) c.6051G>A (p.Gln2017=) c.154G>A c.6039G>A (p.Gln2013=) c.6048G>A (p.Gln2016=) c.6030G>A (p.Gln2010=) n.8371G>A n.7360G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042157T>A | CA384626889 | KMT2D | c.832A>T c.6041A>T (p.Gln2014Leu) c.6050A>T (p.Gln2017Leu) c.153A>T c.6038A>T (p.Gln2013Leu) c.6047A>T (p.Gln2016Leu) c.6029A>T (p.Gln2010Leu) n.8370A>T n.7359A>T | dbSNP |
| 12 | g.49042157T>C | CA384626891 | KMT2D | c.832A>G c.6041A>G (p.Gln2014Arg) c.6050A>G (p.Gln2017Arg) c.153A>G c.6038A>G (p.Gln2013Arg) c.6047A>G (p.Gln2016Arg) c.6029A>G (p.Gln2010Arg) n.8370A>G n.7359A>G | |
| 12 | g.49042157T>G | CA384626895 | KMT2D | c.832A>C c.6041A>C (p.Gln2014Pro) c.6050A>C (p.Gln2017Pro) c.153A>C c.6038A>C (p.Gln2013Pro) c.6047A>C (p.Gln2016Pro) c.6029A>C (p.Gln2010Pro) n.8370A>C n.7359A>C | |
| 12 | g.49042158G>A | CA384626897 | KMT2D | c.831C>T c.6040C>T (p.Gln2014Ter) c.6049C>T (p.Gln2017Ter) c.152C>T c.6037C>T (p.Gln2013Ter) c.6046C>T (p.Gln2016Ter) c.6028C>T (p.Gln2010Ter) n.8369C>T n.7358C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49042158G>C | CA384626898 | KMT2D | c.831C>G c.6040C>G (p.Gln2014Glu) c.6049C>G (p.Gln2017Glu) c.152C>G c.6037C>G (p.Gln2013Glu) c.6046C>G (p.Gln2016Glu) c.6028C>G (p.Gln2010Glu) n.8369C>G n.7358C>G | |
| 12 | g.49042158G= | CA2034947846 | KMT2D | c.831C= c.6040C= (p.Gln2014=) c.6049C= (p.Gln2017=) c.152C= c.6037C= (p.Gln2013=) c.6046C= (p.Gln2016=) c.6028C= (p.Gln2010=) n.8369C= n.7358C= | |
| 12 | g.49042158G>T | CA384626901 | KMT2D | c.831C>A c.6040C>A (p.Gln2014Lys) c.6049C>A (p.Gln2017Lys) c.152C>A c.6037C>A (p.Gln2013Lys) c.6046C>A (p.Gln2016Lys) c.6028C>A (p.Gln2010Lys) n.8369C>A n.7358C>A | |
| 12 | g.49042159G>A | CA236612501 | KMT2D | c.830C>T c.6039C>T (p.Gly2013=) c.6048C>T (p.Gly2016=) c.151C>T c.6036C>T (p.Gly2012=) c.6045C>T (p.Gly2015=) c.6027C>T (p.Gly2009=) n.8368C>T n.7357C>T | dbSNP gnomAD v4 |
| 12 | g.49042159G>C | CA479511740 | KMT2D | c.830C>G c.6039C>G (p.Gly2013=) c.6048C>G (p.Gly2016=) c.151C>G c.6036C>G (p.Gly2012=) c.6045C>G (p.Gly2015=) c.6027C>G (p.Gly2009=) n.8368C>G n.7357C>G | |
| 12 | g.49042159G= | CA2034947851 | KMT2D | c.830C= c.6039C= (p.Gly2013=) c.6048C= (p.Gly2016=) c.151C= c.6036C= (p.Gly2012=) c.6045C= (p.Gly2015=) c.6027C= (p.Gly2009=) n.8368C= n.7357C= | |
| 12 | g.49042159G>T | CA479511741 | KMT2D | c.830C>A c.6039C>A (p.Gly2013=) c.6048C>A (p.Gly2016=) c.151C>A c.6036C>A (p.Gly2012=) c.6045C>A (p.Gly2015=) c.6027C>A (p.Gly2009=) n.8368C>A n.7357C>A | |
| 12 | g.49042160C>A | CA384626904 | KMT2D | c.829G>T c.6038G>T (p.Gly2013Val) c.6047G>T (p.Gly2016Val) c.150G>T c.6035G>T (p.Gly2012Val) c.6044G>T (p.Gly2015Val) c.6026G>T (p.Gly2009Val) n.8367G>T n.7356G>T | gnomAD v4 |
| 12 | g.49042160C= | CA2034947853 | KMT2D | c.829G= c.6038G= (p.Gly2013=) c.6047G= (p.Gly2016=) c.150G= c.6035G= (p.Gly2012=) c.6044G= (p.Gly2015=) c.6026G= (p.Gly2009=) n.8367G= n.7356G= | |
| 12 | g.49042160C>G | CA384626908 | KMT2D | c.829G>C c.6038G>C (p.Gly2013Ala) c.6047G>C (p.Gly2016Ala) c.150G>C c.6035G>C (p.Gly2012Ala) c.6044G>C (p.Gly2015Ala) c.6026G>C (p.Gly2009Ala) n.8367G>C n.7356G>C | |
| 12 | g.49042160C>T | CA384626911 | KMT2D | c.829G>A c.6038G>A (p.Gly2013Asp) c.6047G>A (p.Gly2016Asp) c.150G>A c.6035G>A (p.Gly2012Asp) c.6044G>A (p.Gly2015Asp) c.6026G>A (p.Gly2009Asp) n.8367G>A n.7356G>A | dbSNP |
| 12 | g.49042161C>A | CA384626919 | KMT2D | c.828G>T c.6037G>T (p.Gly2013Cys) c.6046G>T (p.Gly2016Cys) c.149G>T c.6034G>T (p.Gly2012Cys) c.6043G>T (p.Gly2015Cys) c.6025G>T (p.Gly2009Cys) n.8366G>T n.7355G>T | |
| 12 | g.49042161C>G | CA384626922 | KMT2D | c.828G>C c.6037G>C (p.Gly2013Arg) c.6046G>C (p.Gly2016Arg) c.149G>C c.6034G>C (p.Gly2012Arg) c.6043G>C (p.Gly2015Arg) c.6025G>C (p.Gly2009Arg) n.8366G>C n.7355G>C | |
| 12 | g.49042161C>T | CA384626923 | KMT2D | c.828G>A c.6037G>A (p.Gly2013Ser) c.6046G>A (p.Gly2016Ser) c.149G>A c.6034G>A (p.Gly2012Ser) c.6043G>A (p.Gly2015Ser) c.6025G>A (p.Gly2009Ser) n.8366G>A n.7355G>A | gnomAD v4 |
| 12 | g.49042162C>A | CA384626927 | KMT2D | c.827G>T c.6036G>T (p.Leu2012Phe) c.6045G>T (p.Leu2015Phe) c.148G>T c.6033G>T (p.Leu2011Phe) c.6042G>T (p.Leu2014Phe) c.6024G>T (p.Leu2008Phe) n.8365G>T n.7354G>T | |
| 12 | g.49042162C>G | CA384626925 | KMT2D | c.827G>C c.6036G>C (p.Leu2012Phe) c.6045G>C (p.Leu2015Phe) c.148G>C c.6033G>C (p.Leu2011Phe) c.6042G>C (p.Leu2014Phe) c.6024G>C (p.Leu2008Phe) n.8365G>C n.7354G>C | |
| 12 | g.49042162C>T | CA479712304 | KMT2D | c.827G>A c.6036G>A (p.Leu2012=) c.6045G>A (p.Leu2015=) c.148G>A c.6033G>A (p.Leu2011=) c.6042G>A (p.Leu2014=) c.6024G>A (p.Leu2008=) n.8365G>A n.7354G>A | |
| 12 | g.49042163A>C | CA384626931 | KMT2D | c.826T>G c.6035T>G (p.Leu2012Trp) c.6044T>G (p.Leu2015Trp) c.147T>G c.6032T>G (p.Leu2011Trp) c.6041T>G (p.Leu2014Trp) c.6023T>G (p.Leu2008Trp) n.8364T>G n.7353T>G | |
| 12 | g.49042163A>G | CA384626933 | KMT2D | c.826T>C c.6035T>C (p.Leu2012Ser) c.6044T>C (p.Leu2015Ser) c.147T>C c.6032T>C (p.Leu2011Ser) c.6041T>C (p.Leu2014Ser) c.6023T>C (p.Leu2008Ser) n.8364T>C n.7353T>C | |
| 12 | g.49042163A>T | CA384626934 | KMT2D | c.826T>A c.6035T>A (p.Leu2012Ter) c.6044T>A (p.Leu2015Ter) c.147T>A c.6032T>A (p.Leu2011Ter) c.6041T>A (p.Leu2014Ter) c.6023T>A (p.Leu2008Ter) n.8364T>A n.7353T>A | |
| 12 | g.49042164A= | CA2034947857 | KMT2D | c.825T= c.6034T= (p.Leu2012=) c.6043T= (p.Leu2015=) c.146T= c.6031T= (p.Leu2011=) c.6040T= (p.Leu2014=) c.6022T= (p.Leu2008=) n.8363T= n.7352T= | |
| 12 | g.49042164A>C | CA384626937 | KMT2D | c.825T>G c.6034T>G (p.Leu2012Val) c.6043T>G (p.Leu2015Val) c.146T>G c.6031T>G (p.Leu2011Val) c.6040T>G (p.Leu2014Val) c.6022T>G (p.Leu2008Val) n.8363T>G n.7352T>G | dbSNP |
| 12 | g.49042164A>G | CA479712309 | KMT2D | c.825T>C c.6034T>C (p.Leu2012=) c.6043T>C (p.Leu2015=) c.146T>C c.6031T>C (p.Leu2011=) c.6040T>C (p.Leu2014=) c.6022T>C (p.Leu2008=) n.8363T>C n.7352T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042164A>T | CA384626938 | KMT2D | c.825T>A c.6034T>A (p.Leu2012Met) c.6043T>A (p.Leu2015Met) c.146T>A c.6031T>A (p.Leu2011Met) c.6040T>A (p.Leu2014Met) c.6022T>A (p.Leu2008Met) n.8363T>A n.7352T>A | dbSNP |
| 12 | g.49042165C>A | CA384626941 | KMT2D | c.824G>T c.6033G>T (p.Glu2011Asp) c.6042G>T (p.Glu2014Asp) c.145G>T c.6030G>T (p.Glu2010Asp) c.6039G>T (p.Glu2013Asp) c.6021G>T (p.Glu2007Asp) n.8362G>T n.7351G>T | dbSNP gnomAD v4 |
| 12 | g.49042165C= | CA2034947859 | KMT2D | c.824G= c.6033G= (p.Glu2011=) c.6042G= (p.Glu2014=) c.145G= c.6030G= (p.Glu2010=) c.6039G= (p.Glu2013=) c.6021G= (p.Glu2007=) n.8362G= n.7351G= | |
| 12 | g.49042165C>G | CA384626943 | KMT2D | c.824G>C c.6033G>C (p.Glu2011Asp) c.6042G>C (p.Glu2014Asp) c.145G>C c.6030G>C (p.Glu2010Asp) c.6039G>C (p.Glu2013Asp) c.6021G>C (p.Glu2007Asp) n.8362G>C n.7351G>C | |
| 12 | g.49042165C>T | CA479712317 | KMT2D | c.824G>A c.6033G>A (p.Glu2011=) c.6042G>A (p.Glu2014=) c.145G>A c.6030G>A (p.Glu2010=) c.6039G>A (p.Glu2013=) c.6021G>A (p.Glu2007=) n.8362G>A n.7351G>A | gnomAD v4 |
| 12 | g.49042166T>A | CA384626950 | KMT2D | c.823A>T c.6032A>T (p.Glu2011Val) c.6041A>T (p.Glu2014Val) c.144A>T c.6029A>T (p.Glu2010Val) c.6038A>T (p.Glu2013Val) c.6020A>T (p.Glu2007Val) n.8361A>T n.7350A>T | |
| 12 | g.49042166T>C | CA384626945 | KMT2D | c.823A>G c.6032A>G (p.Glu2011Gly) c.6041A>G (p.Glu2014Gly) c.144A>G c.6029A>G (p.Glu2010Gly) c.6038A>G (p.Glu2013Gly) c.6020A>G (p.Glu2007Gly) n.8361A>G n.7350A>G | |
| 12 | g.49042166T>G | CA384626948 | KMT2D | c.823A>C c.6032A>C (p.Glu2011Ala) c.6041A>C (p.Glu2014Ala) c.144A>C c.6029A>C (p.Glu2010Ala) c.6038A>C (p.Glu2013Ala) c.6020A>C (p.Glu2007Ala) n.8361A>C n.7350A>C | dbSNP |
| 12 | g.49042166T= | CA2034947860 | KMT2D | c.823A= c.6032A= (p.Glu2011=) c.6041A= (p.Glu2014=) c.144A= c.6029A= (p.Glu2010=) c.6038A= (p.Glu2013=) c.6020A= (p.Glu2007=) n.8361A= n.7350A= | |
| 12 | g.49042167C>A | CA384626954 | KMT2D | c.822G>T c.6031G>T (p.Glu2011Ter) c.6040G>T (p.Glu2014Ter) c.143G>T c.6028G>T (p.Glu2010Ter) c.6037G>T (p.Glu2013Ter) c.6019G>T (p.Glu2007Ter) n.8360G>T n.7349G>T | COSMIC COSMIC |
| 12 | g.49042167C= | CA2034947863 | KMT2D | c.822G= c.6031G= (p.Glu2011=) c.6040G= (p.Glu2014=) c.143G= c.6028G= (p.Glu2010=) c.6037G= (p.Glu2013=) c.6019G= (p.Glu2007=) n.8360G= n.7349G= | |
| 12 | g.49042167C>G | CA384626956 | KMT2D | c.822G>C c.6031G>C (p.Glu2011Gln) c.6040G>C (p.Glu2014Gln) c.143G>C c.6028G>C (p.Glu2010Gln) c.6037G>C (p.Glu2013Gln) c.6019G>C (p.Glu2007Gln) n.8360G>C n.7349G>C | |
| 12 | g.49042167C>T | CA384626958 | KMT2D | c.822G>A c.6031G>A (p.Glu2011Lys) c.6040G>A (p.Glu2014Lys) c.143G>A c.6028G>A (p.Glu2010Lys) c.6037G>A (p.Glu2013Lys) c.6019G>A (p.Glu2007Lys) n.8360G>A n.7349G>A | dbSNP gnomAD v4 |
| 12 | g.49042168C>A | CA384626961 | KMT2D | c.821G>T c.6030G>T (p.Glu2010Asp) c.6039G>T (p.Glu2013Asp) c.142G>T c.6027G>T (p.Glu2009Asp) c.6036G>T (p.Glu2012Asp) c.6018G>T (p.Glu2006Asp) n.8359G>T n.7348G>T | |
| 12 | g.49042168C= | CA2034947866 | KMT2D | c.821G= c.6030G= (p.Glu2010=) c.6039G= (p.Glu2013=) c.142G= c.6027G= (p.Glu2009=) c.6036G= (p.Glu2012=) c.6018G= (p.Glu2006=) n.8359G= n.7348G= | |
| 12 | g.49042168C>G | CA384626963 | KMT2D | c.821G>C c.6030G>C (p.Glu2010Asp) c.6039G>C (p.Glu2013Asp) c.142G>C c.6027G>C (p.Glu2009Asp) c.6036G>C (p.Glu2012Asp) c.6018G>C (p.Glu2006Asp) n.8359G>C n.7348G>C | |
| 12 | g.49042168C>T | CA479712321 | KMT2D | c.821G>A c.6030G>A (p.Glu2010=) c.6039G>A (p.Glu2013=) c.142G>A c.6027G>A (p.Glu2009=) c.6036G>A (p.Glu2012=) c.6018G>A (p.Glu2006=) n.8359G>A n.7348G>A | dbSNP |
| 12 | g.49042169T>A | CA384626972 | KMT2D | c.820A>T c.6029A>T (p.Glu2010Val) c.6038A>T (p.Glu2013Val) c.141A>T c.6026A>T (p.Glu2009Val) c.6035A>T (p.Glu2012Val) c.6017A>T (p.Glu2006Val) n.8358A>T n.7347A>T | |
| 12 | g.49042169T>C | CA384626967 | KMT2D | c.820A>G c.6029A>G (p.Glu2010Gly) c.6038A>G (p.Glu2013Gly) c.141A>G c.6026A>G (p.Glu2009Gly) c.6035A>G (p.Glu2012Gly) c.6017A>G (p.Glu2006Gly) n.8358A>G n.7347A>G | |
| 12 | g.49042169T>G | CA384626970 | KMT2D | c.820A>C c.6029A>C (p.Glu2010Ala) c.6038A>C (p.Glu2013Ala) c.141A>C c.6026A>C (p.Glu2009Ala) c.6035A>C (p.Glu2012Ala) c.6017A>C (p.Glu2006Ala) n.8358A>C n.7347A>C | |
| 12 | g.49042170C>A | CA384626974 | KMT2D | c.819G>T c.6028G>T (p.Glu2010Ter) c.6037G>T (p.Glu2013Ter) c.140G>T c.6025G>T (p.Glu2009Ter) c.6034G>T (p.Glu2012Ter) c.6016G>T (p.Glu2006Ter) n.8357G>T n.7346G>T | |
| 12 | g.49042170C>G | CA384626977 | KMT2D | c.819G>C c.6028G>C (p.Glu2010Gln) c.6037G>C (p.Glu2013Gln) c.140G>C c.6025G>C (p.Glu2009Gln) c.6034G>C (p.Glu2012Gln) c.6016G>C (p.Glu2006Gln) n.8357G>C n.7346G>C | |
| 12 | g.49042170C>T | CA384626980 | KMT2D | c.819G>A c.6028G>A (p.Glu2010Lys) c.6037G>A (p.Glu2013Lys) c.140G>A c.6025G>A (p.Glu2009Lys) c.6034G>A (p.Glu2012Lys) c.6016G>A (p.Glu2006Lys) n.8357G>A n.7346G>A | |
| 12 | g.49042171A= | CA2034947869 | KMT2D | c.818T= c.6027T= (p.Asp2009=) c.6036T= (p.Asp2012=) c.139T= c.6024T= (p.Asp2008=) c.6033T= (p.Asp2011=) c.6015T= (p.Asp2005=) n.8356T= n.7345T= | |
| 12 | g.49042171A>C | CA384626981 | KMT2D | c.818T>G c.6027T>G (p.Asp2009Glu) c.6036T>G (p.Asp2012Glu) c.139T>G c.6024T>G (p.Asp2008Glu) c.6033T>G (p.Asp2011Glu) c.6015T>G (p.Asp2005Glu) n.8356T>G n.7345T>G | |
| 12 | g.49042171A>G | CA479712329 | KMT2D | c.818T>C c.6027T>C (p.Asp2009=) c.6036T>C (p.Asp2012=) c.139T>C c.6024T>C (p.Asp2008=) c.6033T>C (p.Asp2011=) c.6015T>C (p.Asp2005=) n.8356T>C n.7345T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042171A>T | CA384626984 | KMT2D | c.818T>A c.6027T>A (p.Asp2009Glu) c.6036T>A (p.Asp2012Glu) c.139T>A c.6024T>A (p.Asp2008Glu) c.6033T>A (p.Asp2011Glu) c.6015T>A (p.Asp2005Glu) n.8356T>A n.7345T>A | |
| 12 | g.49042172T>A | CA384626987 | KMT2D | c.817A>T c.6026A>T (p.Asp2009Val) c.6035A>T (p.Asp2012Val) c.138A>T c.6023A>T (p.Asp2008Val) c.6032A>T (p.Asp2011Val) c.6014A>T (p.Asp2005Val) n.8355A>T n.7344A>T | |
| 12 | g.49042172T>C | CA384626990 | KMT2D | c.817A>G c.6026A>G (p.Asp2009Gly) c.6035A>G (p.Asp2012Gly) c.138A>G c.6023A>G (p.Asp2008Gly) c.6032A>G (p.Asp2011Gly) c.6014A>G (p.Asp2005Gly) n.8355A>G n.7344A>G | COSMIC COSMIC |
| 12 | g.49042172T>G | CA384626991 | KMT2D | c.817A>C c.6026A>C (p.Asp2009Ala) c.6035A>C (p.Asp2012Ala) c.138A>C c.6023A>C (p.Asp2008Ala) c.6032A>C (p.Asp2011Ala) c.6014A>C (p.Asp2005Ala) n.8355A>C n.7344A>C | gnomAD v4 |
| 12 | g.49042173C>A | CA384626994 | KMT2D | c.816G>T c.6025G>T (p.Asp2009Tyr) c.6034G>T (p.Asp2012Tyr) c.137G>T c.6022G>T (p.Asp2008Tyr) c.6031G>T (p.Asp2011Tyr) c.6013G>T (p.Asp2005Tyr) n.8354G>T n.7343G>T | gnomAD v4 |
| 12 | g.49042173C>G | CA384626997 | KMT2D | c.816G>C c.6025G>C (p.Asp2009His) c.6034G>C (p.Asp2012His) c.137G>C c.6022G>C (p.Asp2008His) c.6031G>C (p.Asp2011His) c.6013G>C (p.Asp2005His) n.8354G>C n.7343G>C | |
| 12 | g.49042173C>T | CA384627000 | KMT2D | c.816G>A c.6025G>A (p.Asp2009Asn) c.6034G>A (p.Asp2012Asn) c.137G>A c.6022G>A (p.Asp2008Asn) c.6031G>A (p.Asp2011Asn) c.6013G>A (p.Asp2005Asn) n.8354G>A n.7343G>A | |
| 12 | g.49042174del | CA2695216443 | KMT2D | c.816del c.6025del (p.Asp2009MetfsTer?) c.6034del (p.Asp2012MetfsTer?) c.137del c.6022del (p.Asp2008MetfsTer?) c.6031del (p.Asp2011MetfsTer?) c.6013del (p.Asp2005MetfsTer?) n.8354del n.7343del | |
| 12 | g.49042173_49042176delinsCCTT | CA2034947871 | KMT2D | c.813_816delinsAAGG c.6022_6025delinsAAGG (p.Lys2008=) c.6031_6034delinsAAGG (p.Lys2011=) c.134_137delinsAAGG c.6019_6022delinsAAGG (p.Lys2007=) c.6028_6031delinsAAGG (p.Lys2010=) c.6010_6013delinsAAGG (p.Lys2004=) n.8351_8354delinsAAGG n.7340_7343delinsAAGG | |
| 12 | g.49042174C>A | CA384627001 | KMT2D | c.815G>T c.6024G>T (p.Lys2008Asn) c.6033G>T (p.Lys2011Asn) c.136G>T c.6021G>T (p.Lys2007Asn) c.6030G>T (p.Lys2010Asn) c.6012G>T (p.Lys2004Asn) n.8353G>T n.7342G>T | gnomAD v4 |
| 12 | g.49042174C>G | CA384627002 | KMT2D | c.815G>C c.6024G>C (p.Lys2008Asn) c.6033G>C (p.Lys2011Asn) c.136G>C c.6021G>C (p.Lys2007Asn) c.6030G>C (p.Lys2010Asn) c.6012G>C (p.Lys2004Asn) n.8353G>C n.7342G>C | |
| 12 | g.49042174C>T | CA479712337 | KMT2D | c.815G>A c.6024G>A (p.Lys2008=) c.6033G>A (p.Lys2011=) c.136G>A c.6021G>A (p.Lys2007=) c.6030G>A (p.Lys2010=) c.6012G>A (p.Lys2004=) n.8353G>A n.7342G>A | gnomAD v4 |
| 12 | g.49042176_49042178del | CA605233909 | KMT2D | c.813_815del c.6022_6024del (p.Lys2008del) c.6031_6033del (p.Lys2011del) c.134_136del c.6019_6021del (p.Lys2007del) c.6028_6030del (p.Lys2010del) c.6010_6012del (p.Lys2004del) n.8351_8353del n.7340_7342del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042175T>A | CA384627006 | KMT2D | c.814A>T c.6023A>T (p.Lys2008Met) c.6032A>T (p.Lys2011Met) c.135A>T c.6020A>T (p.Lys2007Met) c.6029A>T (p.Lys2010Met) c.6011A>T (p.Lys2004Met) n.8352A>T n.7341A>T | |
| 12 | g.49042175T>C | CA384627011 | KMT2D | c.814A>G c.6023A>G (p.Lys2008Arg) c.6032A>G (p.Lys2011Arg) c.135A>G c.6020A>G (p.Lys2007Arg) c.6029A>G (p.Lys2010Arg) c.6011A>G (p.Lys2004Arg) n.8352A>G n.7341A>G | |
| 12 | g.49042175T>G | CA384627010 | KMT2D | c.814A>C c.6023A>C (p.Lys2008Thr) c.6032A>C (p.Lys2011Thr) c.135A>C c.6020A>C (p.Lys2007Thr) c.6029A>C (p.Lys2010Thr) c.6011A>C (p.Lys2004Thr) n.8352A>C n.7341A>C | |
| 12 | g.49042176T>A | CA384627015 | KMT2D | c.813A>T c.6022A>T (p.Lys2008Ter) c.6031A>T (p.Lys2011Ter) c.134A>T c.6019A>T (p.Lys2007Ter) c.6028A>T (p.Lys2010Ter) c.6010A>T (p.Lys2004Ter) n.8351A>T n.7340A>T | |
| 12 | g.49042176T>C | CA384627020 | KMT2D | c.813A>G c.6022A>G (p.Lys2008Glu) c.6031A>G (p.Lys2011Glu) c.134A>G c.6019A>G (p.Lys2007Glu) c.6028A>G (p.Lys2010Glu) c.6010A>G (p.Lys2004Glu) n.8351A>G n.7340A>G | |
| 12 | g.49042176T>G | CA384627018 | KMT2D | c.813A>C c.6022A>C (p.Lys2008Gln) c.6031A>C (p.Lys2011Gln) c.134A>C c.6019A>C (p.Lys2007Gln) c.6028A>C (p.Lys2010Gln) c.6010A>C (p.Lys2004Gln) n.8351A>C n.7340A>C | |
| 12 | g.49042177C>A | CA384627023 | KMT2D | c.812G>T c.6021G>T (p.Glu2007Asp) c.6030G>T (p.Glu2010Asp) c.133G>T c.6018G>T (p.Glu2006Asp) c.6027G>T (p.Glu2009Asp) c.6009G>T (p.Glu2003Asp) n.8350G>T n.7339G>T | |
| 12 | g.49042177C>G | CA384627025 | KMT2D | c.812G>C c.6021G>C (p.Glu2007Asp) c.6030G>C (p.Glu2010Asp) c.133G>C c.6018G>C (p.Glu2006Asp) c.6027G>C (p.Glu2009Asp) c.6009G>C (p.Glu2003Asp) n.8350G>C n.7339G>C | |
| 12 | g.49042177C>T | CA479712345 | KMT2D | c.812G>A c.6021G>A (p.Glu2007=) c.6030G>A (p.Glu2010=) c.133G>A c.6018G>A (p.Glu2006=) c.6027G>A (p.Glu2009=) c.6009G>A (p.Glu2003=) n.8350G>A n.7339G>A | |
| 12 | g.49042178T>A | CA384627027 | KMT2D | c.811A>T c.6020A>T (p.Glu2007Val) c.6029A>T (p.Glu2010Val) c.132A>T c.6017A>T (p.Glu2006Val) c.6026A>T (p.Glu2009Val) c.6008A>T (p.Glu2003Val) n.8349A>T n.7338A>T | |
| 12 | g.49042178T>C | CA384627030 | KMT2D | c.811A>G c.6020A>G (p.Glu2007Gly) c.6029A>G (p.Glu2010Gly) c.132A>G c.6017A>G (p.Glu2006Gly) c.6026A>G (p.Glu2009Gly) c.6008A>G (p.Glu2003Gly) n.8349A>G n.7338A>G | |
| 12 | g.49042178T>G | CA172432 | KMT2D | c.811A>C c.6020A>C (p.Glu2007Ala) c.6029A>C (p.Glu2010Ala) c.132A>C c.6017A>C (p.Glu2006Ala) c.6026A>C (p.Glu2009Ala) c.6008A>C (p.Glu2003Ala) n.8349A>C n.7338A>C | ClinVar dbSNP |
| 12 | g.49042178T= | CA2034947878 | KMT2D | c.811A= c.6020A= (p.Glu2007=) c.6029A= (p.Glu2010=) c.132A= c.6017A= (p.Glu2006=) c.6026A= (p.Glu2009=) c.6008A= (p.Glu2003=) n.8349A= n.7338A= | |
| 12 | g.49042179C>A | CA384627034 | KMT2D | c.810G>T c.6019G>T (p.Glu2007Ter) c.6028G>T (p.Glu2010Ter) c.131G>T c.6016G>T (p.Glu2006Ter) c.6025G>T (p.Glu2009Ter) c.6007G>T (p.Glu2003Ter) n.8348G>T n.7337G>T | |
| 12 | g.49042179C= | CA2034947883 | KMT2D | c.810G= c.6019G= (p.Glu2007=) c.6028G= (p.Glu2010=) c.131G= c.6016G= (p.Glu2006=) c.6025G= (p.Glu2009=) c.6007G= (p.Glu2003=) n.8348G= n.7337G= | |
| 12 | g.49042179C>G | CA6547383 | KMT2D | c.810G>C c.6019G>C (p.Glu2007Gln) c.6028G>C (p.Glu2010Gln) c.131G>C c.6016G>C (p.Glu2006Gln) c.6025G>C (p.Glu2009Gln) c.6007G>C (p.Glu2003Gln) n.8348G>C n.7337G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49042179C>T | CA384627037 | KMT2D | c.810G>A c.6019G>A (p.Glu2007Lys) c.6028G>A (p.Glu2010Lys) c.131G>A c.6016G>A (p.Glu2006Lys) c.6025G>A (p.Glu2009Lys) c.6007G>A (p.Glu2003Lys) n.8348G>A n.7337G>A | dbSNP COSMIC COSMIC |
| 12 | g.49042181del | CA2726161250 | KMT2D | c.810del c.6019del (p.Glu2007ArgfsTer?) c.6028del (p.Glu2010ArgfsTer?) c.131del c.6016del (p.Glu2006ArgfsTer?) c.6025del (p.Glu2009ArgfsTer?) c.6007del (p.Glu2003ArgfsTer?) n.8348del n.7337del | dbSNP |
| 12 | g.49042180C>A | CA384627039 | KMT2D | c.809G>T c.6018G>T (p.Trp2006Cys) c.6027G>T (p.Trp2009Cys) c.130G>T c.6015G>T (p.Trp2005Cys) c.6024G>T (p.Trp2008Cys) c.6006G>T (p.Trp2002Cys) n.8347G>T n.7336G>T | |
| 12 | g.49042180C>G | CA384627041 | KMT2D | c.809G>C c.6018G>C (p.Trp2006Cys) c.6027G>C (p.Trp2009Cys) c.130G>C c.6015G>C (p.Trp2005Cys) c.6024G>C (p.Trp2008Cys) c.6006G>C (p.Trp2002Cys) n.8347G>C n.7336G>C | |
| 12 | g.49042180C>T | CA384627043 | KMT2D | c.809G>A c.6018G>A (p.Trp2006Ter) c.6027G>A (p.Trp2009Ter) c.130G>A c.6015G>A (p.Trp2005Ter) c.6024G>A (p.Trp2008Ter) c.6006G>A (p.Trp2002Ter) n.8347G>A n.7336G>A | |
| 12 | g.49042181C>A | CA384627049 | KMT2D | c.808G>T c.6017G>T (p.Trp2006Leu) c.6026G>T (p.Trp2009Leu) c.129G>T c.6014G>T (p.Trp2005Leu) c.6023G>T (p.Trp2008Leu) c.6005G>T (p.Trp2002Leu) n.8346G>T n.7335G>T | |
| 12 | g.49042181C>G | CA384627045 | KMT2D | c.808G>C c.6017G>C (p.Trp2006Ser) c.6026G>C (p.Trp2009Ser) c.129G>C c.6014G>C (p.Trp2005Ser) c.6023G>C (p.Trp2008Ser) c.6005G>C (p.Trp2002Ser) n.8346G>C n.7335G>C | |
| 12 | g.49042181C>T | CA384627047 | KMT2D | c.808G>A c.6017G>A (p.Trp2006Ter) c.6026G>A (p.Trp2009Ter) c.129G>A c.6014G>A (p.Trp2005Ter) c.6023G>A (p.Trp2008Ter) c.6005G>A (p.Trp2002Ter) n.8346G>A n.7335G>A | |
| 12 | g.49042182A>C | CA384627052 | KMT2D | c.807T>G c.6016T>G (p.Trp2006Gly) c.6025T>G (p.Trp2009Gly) c.128T>G c.6013T>G (p.Trp2005Gly) c.6022T>G (p.Trp2008Gly) c.6004T>G (p.Trp2002Gly) n.8345T>G n.7334T>G | |
| 12 | g.49042182A>G | CA384627054 | KMT2D | c.807T>C c.6016T>C (p.Trp2006Arg) c.6025T>C (p.Trp2009Arg) c.128T>C c.6013T>C (p.Trp2005Arg) c.6022T>C (p.Trp2008Arg) c.6004T>C (p.Trp2002Arg) n.8345T>C n.7334T>C | |
| 12 | g.49042182A>T | CA384627056 | KMT2D | c.807T>A c.6016T>A (p.Trp2006Arg) c.6025T>A (p.Trp2009Arg) c.128T>A c.6013T>A (p.Trp2005Arg) c.6022T>A (p.Trp2008Arg) c.6004T>A (p.Trp2002Arg) n.8345T>A n.7334T>A | |
| 12 | g.49042183G>A | CA479712357 | KMT2D | c.806C>T c.6015C>T (p.Arg2005=) c.6024C>T (p.Arg2008=) c.127C>T c.6012C>T (p.Arg2004=) c.6021C>T (p.Arg2007=) c.6003C>T (p.Arg2001=) n.8344C>T n.7333C>T | |
| 12 | g.49042183G>C | CA479712358 | KMT2D | c.806C>G c.6015C>G (p.Arg2005=) c.6024C>G (p.Arg2008=) c.127C>G c.6012C>G (p.Arg2004=) c.6021C>G (p.Arg2007=) c.6003C>G (p.Arg2001=) n.8344C>G n.7333C>G | |
| 12 | g.49042183G>T | CA479712359 | KMT2D | c.806C>A c.6015C>A (p.Arg2005=) c.6024C>A (p.Arg2008=) c.127C>A c.6012C>A (p.Arg2004=) c.6021C>A (p.Arg2007=) c.6003C>A (p.Arg2001=) n.8344C>A n.7333C>A | gnomAD v4 |
| 12 | g.49042184C>A | CA384627059 | KMT2D | c.805G>T c.6014G>T (p.Arg2005Leu) c.6023G>T (p.Arg2008Leu) c.126G>T c.6011G>T (p.Arg2004Leu) c.6020G>T (p.Arg2007Leu) c.6002G>T (p.Arg2001Leu) n.8343G>T n.7332G>T | |
| 12 | g.49042184C>G | CA384627061 | KMT2D | c.805G>C c.6014G>C (p.Arg2005Pro) c.6023G>C (p.Arg2008Pro) c.126G>C c.6011G>C (p.Arg2004Pro) c.6020G>C (p.Arg2007Pro) c.6002G>C (p.Arg2001Pro) n.8343G>C n.7332G>C | |
| 12 | g.49042184C>T | CA384627064 | KMT2D | c.805G>A c.6014G>A (p.Arg2005His) c.6023G>A (p.Arg2008His) c.126G>A c.6011G>A (p.Arg2004His) c.6020G>A (p.Arg2007His) c.6002G>A (p.Arg2001His) n.8343G>A n.7332G>A | dbSNP gnomAD v4 |
| 12 | g.49042185G>A | CA384627068 | KMT2D | c.804C>T c.6013C>T (p.Arg2005Cys) c.6022C>T (p.Arg2008Cys) c.125C>T c.6010C>T (p.Arg2004Cys) c.6019C>T (p.Arg2007Cys) c.6001C>T (p.Arg2001Cys) n.8342C>T n.7331C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042185G>C | CA384627069 | KMT2D | c.804C>G c.6013C>G (p.Arg2005Gly) c.6022C>G (p.Arg2008Gly) c.125C>G c.6010C>G (p.Arg2004Gly) c.6019C>G (p.Arg2007Gly) c.6001C>G (p.Arg2001Gly) n.8342C>G n.7331C>G | dbSNP |
| 12 | g.49042185G>T | CA384627070 | KMT2D | c.804C>A c.6013C>A (p.Arg2005Ser) c.6022C>A (p.Arg2008Ser) c.125C>A c.6010C>A (p.Arg2004Ser) c.6019C>A (p.Arg2007Ser) c.6001C>A (p.Arg2001Ser) n.8342C>A n.7331C>A | |
| 12 | g.49042186C>A | CA384627072 | KMT2D | c.803G>T c.6012G>T (p.Gln2004His) c.6021G>T (p.Gln2007His) c.124G>T c.6009G>T (p.Gln2003His) c.6018G>T (p.Gln2006His) c.6000G>T (p.Gln2000His) n.8341G>T n.7330G>T | |
| 12 | g.49042186C= | CA2034947890 | KMT2D | c.803G= c.6012G= (p.Gln2004=) c.6021G= (p.Gln2007=) c.124G= c.6009G= (p.Gln2003=) c.6018G= (p.Gln2006=) c.6000G= (p.Gln2000=) n.8341G= n.7330G= | |
| 12 | g.49042186C>G | CA384627074 | KMT2D | c.803G>C c.6012G>C (p.Gln2004His) c.6021G>C (p.Gln2007His) c.124G>C c.6009G>C (p.Gln2003His) c.6018G>C (p.Gln2006His) c.6000G>C (p.Gln2000His) n.8341G>C n.7330G>C | |
| 12 | g.49042186C>T | CA236612507 | KMT2D | c.803G>A c.6012G>A (p.Gln2004=) c.6021G>A (p.Gln2007=) c.124G>A c.6009G>A (p.Gln2003=) c.6018G>A (p.Gln2006=) c.6000G>A (p.Gln2000=) n.8341G>A n.7330G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042187T>A | CA384627079 | KMT2D | c.802A>T c.6011A>T (p.Gln2004Leu) c.6020A>T (p.Gln2007Leu) c.123A>T c.6008A>T (p.Gln2003Leu) c.6017A>T (p.Gln2006Leu) c.5999A>T (p.Gln2000Leu) n.8340A>T n.7329A>T | |
| 12 | g.49042187T>C | CA384627081 | KMT2D | c.802A>G c.6011A>G (p.Gln2004Arg) c.6020A>G (p.Gln2007Arg) c.123A>G c.6008A>G (p.Gln2003Arg) c.6017A>G (p.Gln2006Arg) c.5999A>G (p.Gln2000Arg) n.8340A>G n.7329A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042187T>G | CA384627077 | KMT2D | c.802A>C c.6011A>C (p.Gln2004Pro) c.6020A>C (p.Gln2007Pro) c.123A>C c.6008A>C (p.Gln2003Pro) c.6017A>C (p.Gln2006Pro) c.5999A>C (p.Gln2000Pro) n.8340A>C n.7329A>C | dbSNP gnomAD v2 |
| 12 | g.49042187T= | CA2034947893 | KMT2D | c.802A= c.6011A= (p.Gln2004=) c.6020A= (p.Gln2007=) c.123A= c.6008A= (p.Gln2003=) c.6017A= (p.Gln2006=) c.5999A= (p.Gln2000=) n.8340A= n.7329A= | |
| 12 | g.49042188G>A | CA384627084 | KMT2D | c.801C>T c.6010C>T (p.Gln2004Ter) c.6019C>T (p.Gln2007Ter) c.122C>T c.6007C>T (p.Gln2003Ter) c.6016C>T (p.Gln2006Ter) c.5998C>T (p.Gln2000Ter) n.8339C>T n.7328C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.49042188G>C | CA384627086 | KMT2D | c.801C>G c.6010C>G (p.Gln2004Glu) c.6019C>G (p.Gln2007Glu) c.122C>G c.6007C>G (p.Gln2003Glu) c.6016C>G (p.Gln2006Glu) c.5998C>G (p.Gln2000Glu) n.8339C>G n.7328C>G | dbSNP |
| 12 | g.49042188G= | CA2034947899 | KMT2D | c.801C= c.6010C= (p.Gln2004=) c.6019C= (p.Gln2007=) c.122C= c.6007C= (p.Gln2003=) c.6016C= (p.Gln2006=) c.5998C= (p.Gln2000=) n.8339C= n.7328C= | |
| 12 | g.49042188G>T | CA384627089 | KMT2D | c.801C>A c.6010C>A (p.Gln2004Lys) c.6019C>A (p.Gln2007Lys) c.122C>A c.6007C>A (p.Gln2003Lys) c.6016C>A (p.Gln2006Lys) c.5998C>A (p.Gln2000Lys) n.8339C>A n.7328C>A | |
| 12 | g.49042189A= | CA2034947905 | KMT2D | c.800T= c.6009T= (p.Leu2003=) c.6018T= (p.Leu2006=) c.121T= c.6006T= (p.Leu2002=) c.6015T= (p.Leu2005=) c.5997T= (p.Leu1999=) n.8338T= n.7327T= | |
| 12 | g.49042189A>C | CA6547384 | KMT2D | c.800T>G c.6009T>G (p.Leu2003=) c.6018T>G (p.Leu2006=) c.121T>G c.6006T>G (p.Leu2002=) c.6015T>G (p.Leu2005=) c.5997T>G (p.Leu1999=) n.8338T>G n.7327T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042189A>G | CA479712370 | KMT2D | c.800T>C c.6009T>C (p.Leu2003=) c.6018T>C (p.Leu2006=) c.121T>C c.6006T>C (p.Leu2002=) c.6015T>C (p.Leu2005=) c.5997T>C (p.Leu1999=) n.8338T>C n.7327T>C | |
| 12 | g.49042189A>T | CA479712371 | KMT2D | c.800T>A c.6009T>A (p.Leu2003=) c.6018T>A (p.Leu2006=) c.121T>A c.6006T>A (p.Leu2002=) c.6015T>A (p.Leu2005=) c.5997T>A (p.Leu1999=) n.8338T>A n.7327T>A | dbSNP |
| 12 | g.49042190A>C | CA384627094 | KMT2D | c.799T>G c.6008T>G (p.Leu2003Arg) c.6017T>G (p.Leu2006Arg) c.120T>G c.6005T>G (p.Leu2002Arg) c.6014T>G (p.Leu2005Arg) c.5996T>G (p.Leu1999Arg) n.8337T>G n.7326T>G | |
| 12 | g.49042190A>G | CA384627095 | KMT2D | c.799T>C c.6008T>C (p.Leu2003Pro) c.6017T>C (p.Leu2006Pro) c.120T>C c.6005T>C (p.Leu2002Pro) c.6014T>C (p.Leu2005Pro) c.5996T>C (p.Leu1999Pro) n.8337T>C n.7326T>C | |
| 12 | g.49042190A>T | CA384627097 | KMT2D | c.799T>A c.6008T>A (p.Leu2003His) c.6017T>A (p.Leu2006His) c.120T>A c.6005T>A (p.Leu2002His) c.6014T>A (p.Leu2005His) c.5996T>A (p.Leu1999His) n.8337T>A n.7326T>A | |
| 12 | g.49042191G>A | CA384627100 | KMT2D | c.798C>T c.6007C>T (p.Leu2003Phe) c.6016C>T (p.Leu2006Phe) c.119C>T c.6004C>T (p.Leu2002Phe) c.6013C>T (p.Leu2005Phe) c.5995C>T (p.Leu1999Phe) n.8336C>T n.7325C>T | |
| 12 | g.49042191G>C | CA384627103 | KMT2D | c.798C>G c.6007C>G (p.Leu2003Val) c.6016C>G (p.Leu2006Val) c.119C>G c.6004C>G (p.Leu2002Val) c.6013C>G (p.Leu2005Val) c.5995C>G (p.Leu1999Val) n.8336C>G n.7325C>G | dbSNP |
| 12 | g.49042191G>T | CA384627105 | KMT2D | c.798C>A c.6007C>A (p.Leu2003Ile) c.6016C>A (p.Leu2006Ile) c.119C>A c.6004C>A (p.Leu2002Ile) c.6013C>A (p.Leu2005Ile) c.5995C>A (p.Leu1999Ile) n.8336C>A n.7325C>A | |
| 12 | g.49042192A>C | CA384627107 | KMT2D | c.797T>G c.6006T>G (p.Ser2002Arg) c.6015T>G (p.Ser2005Arg) c.118T>G c.6003T>G (p.Ser2001Arg) c.6012T>G (p.Ser2004Arg) c.5994T>G (p.Ser1998Arg) n.8335T>G n.7324T>G | gnomAD v4 |
| 12 | g.49042192A>G | CA479712377 | KMT2D | c.797T>C c.6006T>C (p.Ser2002=) c.6015T>C (p.Ser2005=) c.118T>C c.6003T>C (p.Ser2001=) c.6012T>C (p.Ser2004=) c.5994T>C (p.Ser1998=) n.8335T>C n.7324T>C | |
| 12 | g.49042192A>T | CA384627112 | KMT2D | c.797T>A c.6006T>A (p.Ser2002Arg) c.6015T>A (p.Ser2005Arg) c.118T>A c.6003T>A (p.Ser2001Arg) c.6012T>A (p.Ser2004Arg) c.5994T>A (p.Ser1998Arg) n.8335T>A n.7324T>A | |
| 12 | g.49042193C>A | CA384627114 | KMT2D | c.796G>T c.6005G>T (p.Ser2002Ile) c.6014G>T (p.Ser2005Ile) c.117G>T c.6002G>T (p.Ser2001Ile) c.6011G>T (p.Ser2004Ile) c.5993G>T (p.Ser1998Ile) n.8334G>T n.7323G>T | dbSNP |
| 12 | g.49042193C>G | CA384627116 | KMT2D | c.796G>C c.6005G>C (p.Ser2002Thr) c.6014G>C (p.Ser2005Thr) c.117G>C c.6002G>C (p.Ser2001Thr) c.6011G>C (p.Ser2004Thr) c.5993G>C (p.Ser1998Thr) n.8334G>C n.7323G>C | |
| 12 | g.49042193C>T | CA384627113 | KMT2D | c.796G>A c.6005G>A (p.Ser2002Asn) c.6014G>A (p.Ser2005Asn) c.117G>A c.6002G>A (p.Ser2001Asn) c.6011G>A (p.Ser2004Asn) c.5993G>A (p.Ser1998Asn) n.8334G>A n.7323G>A | |
| 12 | g.49042194T>A | CA384627118 | KMT2D | c.795A>T c.6004A>T (p.Ser2002Cys) c.6013A>T (p.Ser2005Cys) c.116A>T c.6001A>T (p.Ser2001Cys) c.6010A>T (p.Ser2004Cys) c.5992A>T (p.Ser1998Cys) n.8333A>T n.7322A>T | |
| 12 | g.49042194T>C | CA384627119 | KMT2D | c.795A>G c.6004A>G (p.Ser2002Gly) c.6013A>G (p.Ser2005Gly) c.116A>G c.6001A>G (p.Ser2001Gly) c.6010A>G (p.Ser2004Gly) c.5992A>G (p.Ser1998Gly) n.8333A>G n.7322A>G | |
| 12 | g.49042194T>G | CA384627120 | KMT2D | c.795A>C c.6004A>C (p.Ser2002Arg) c.6013A>C (p.Ser2005Arg) c.116A>C c.6001A>C (p.Ser2001Arg) c.6010A>C (p.Ser2004Arg) c.5992A>C (p.Ser1998Arg) n.8333A>C n.7322A>C | |
| 12 | g.49042195C>A | CA479712380 | KMT2D | c.794G>T c.6003G>T (p.Arg2001=) c.6012G>T (p.Arg2004=) c.115G>T c.6000G>T (p.Arg2000=) c.6009G>T (p.Arg2003=) c.5991G>T (p.Arg1997=) n.8332G>T n.7321G>T | gnomAD v4 |
| 12 | g.49042195C= | CA2034947911 | KMT2D | c.794G= c.6003G= (p.Arg2001=) c.6012G= (p.Arg2004=) c.115G= c.6000G= (p.Arg2000=) c.6009G= (p.Arg2003=) c.5991G= (p.Arg1997=) n.8332G= n.7321G= | |
| 12 | g.49042195C>G | CA479712381 | KMT2D | c.794G>C c.6003G>C (p.Arg2001=) c.6012G>C (p.Arg2004=) c.115G>C c.6000G>C (p.Arg2000=) c.6009G>C (p.Arg2003=) c.5991G>C (p.Arg1997=) n.8332G>C n.7321G>C | dbSNP |
| 12 | g.49042195C>T | CA6547385 | KMT2D | c.794G>A c.6003G>A (p.Arg2001=) c.6012G>A (p.Arg2004=) c.115G>A c.6000G>A (p.Arg2000=) c.6009G>A (p.Arg2003=) c.5991G>A (p.Arg1997=) n.8332G>A n.7321G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49042196C>A | CA384627123 | KMT2D | c.793G>T c.6002G>T (p.Arg2001Leu) c.6011G>T (p.Arg2004Leu) c.114G>T c.5999G>T (p.Arg2000Leu) c.6008G>T (p.Arg2003Leu) c.5990G>T (p.Arg1997Leu) n.8331G>T n.7320G>T | |
| 12 | g.49042196C>G | CA384627125 | KMT2D | c.793G>C c.6002G>C (p.Arg2001Pro) c.6011G>C (p.Arg2004Pro) c.114G>C c.5999G>C (p.Arg2000Pro) c.6008G>C (p.Arg2003Pro) c.5990G>C (p.Arg1997Pro) n.8331G>C n.7320G>C | dbSNP |
| 12 | g.49042196C>T | CA384627127 | KMT2D | c.793G>A c.6002G>A (p.Arg2001Gln) c.6011G>A (p.Arg2004Gln) c.114G>A c.5999G>A (p.Arg2000Gln) c.6008G>A (p.Arg2003Gln) c.5990G>A (p.Arg1997Gln) n.8331G>A n.7320G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042197G>A | CA384627130 | KMT2D | c.792C>T c.6001C>T (p.Arg2001Trp) c.6010C>T (p.Arg2004Trp) c.113C>T c.5998C>T (p.Arg2000Trp) c.6007C>T (p.Arg2003Trp) c.5989C>T (p.Arg1997Trp) n.8330C>T n.7319C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042197G>C | CA384627132 | KMT2D | c.792C>G c.6001C>G (p.Arg2001Gly) c.6010C>G (p.Arg2004Gly) c.113C>G c.5998C>G (p.Arg2000Gly) c.6007C>G (p.Arg2003Gly) c.5989C>G (p.Arg1997Gly) n.8330C>G n.7319C>G | dbSNP |
| 12 | g.49042197G= | CA2034947912 | KMT2D | c.792C= c.6001C= (p.Arg2001=) c.6010C= (p.Arg2004=) c.113C= c.5998C= (p.Arg2000=) c.6007C= (p.Arg2003=) c.5989C= (p.Arg1997=) n.8330C= n.7319C= | |
| 12 | g.49042197G>T | CA479712383 | KMT2D | c.792C>A c.6001C>A (p.Arg2001=) c.6010C>A (p.Arg2004=) c.113C>A c.5998C>A (p.Arg2000=) c.6007C>A (p.Arg2003=) c.5989C>A (p.Arg1997=) n.8330C>A n.7319C>A | |
| 12 | g.49042198C>A | CA384627134 | KMT2D | c.791G>T c.6000G>T (p.Gln2000His) c.6009G>T (p.Gln2003His) c.112G>T c.5997G>T (p.Gln1999His) c.6006G>T (p.Gln2002His) c.5988G>T (p.Gln1996His) n.8329G>T n.7318G>T | |
| 12 | g.49042198C= | CA2034947913 | KMT2D | c.791G= c.6000G= (p.Gln2000=) c.6009G= (p.Gln2003=) c.112G= c.5997G= (p.Gln1999=) c.6006G= (p.Gln2002=) c.5988G= (p.Gln1996=) n.8329G= n.7318G= | |
| 12 | g.49042198C>G | CA384627138 | KMT2D | c.791G>C c.6000G>C (p.Gln2000His) c.6009G>C (p.Gln2003His) c.112G>C c.5997G>C (p.Gln1999His) c.6006G>C (p.Gln2002His) c.5988G>C (p.Gln1996His) n.8329G>C n.7318G>C | |
| 12 | g.49042198C>T | CA236612511 | KMT2D | c.791G>A c.6000G>A (p.Gln2000=) c.6009G>A (p.Gln2003=) c.112G>A c.5997G>A (p.Gln1999=) c.6006G>A (p.Gln2002=) c.5988G>A (p.Gln1996=) n.8329G>A n.7318G>A | dbSNP |
| 12 | g.49042199T>A | CA384627143 | KMT2D | c.790A>T c.5999A>T (p.Gln2000Leu) c.6008A>T (p.Gln2003Leu) c.111A>T c.5996A>T (p.Gln1999Leu) c.6005A>T (p.Gln2002Leu) c.5987A>T (p.Gln1996Leu) n.8328A>T n.7317A>T | |
| 12 | g.49042199T>C | CA384627144 | KMT2D | c.790A>G c.5999A>G (p.Gln2000Arg) c.6008A>G (p.Gln2003Arg) c.111A>G c.5996A>G (p.Gln1999Arg) c.6005A>G (p.Gln2002Arg) c.5987A>G (p.Gln1996Arg) n.8328A>G n.7317A>G | gnomAD v4 |
| 12 | g.49042199T>G | CA384627146 | KMT2D | c.790A>C c.5999A>C (p.Gln2000Pro) c.6008A>C (p.Gln2003Pro) c.111A>C c.5996A>C (p.Gln1999Pro) c.6005A>C (p.Gln2002Pro) c.5987A>C (p.Gln1996Pro) n.8328A>C n.7317A>C | |
| 12 | g.49042200G>A | CA384627148 | KMT2D | c.789C>T c.5998C>T (p.Gln2000Ter) c.6007C>T (p.Gln2003Ter) c.110C>T c.5995C>T (p.Gln1999Ter) c.6004C>T (p.Gln2002Ter) c.5986C>T (p.Gln1996Ter) n.8327C>T n.7316C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49042200G>C | CA384627152 | KMT2D | c.789C>G c.5998C>G (p.Gln2000Glu) c.6007C>G (p.Gln2003Glu) c.110C>G c.5995C>G (p.Gln1999Glu) c.6004C>G (p.Gln2002Glu) c.5986C>G (p.Gln1996Glu) n.8327C>G n.7316C>G | |
| 12 | g.49042200G= | CA2034947917 | KMT2D | c.789C= c.5998C= (p.Gln2000=) c.6007C= (p.Gln2003=) c.110C= c.5995C= (p.Gln1999=) c.6004C= (p.Gln2002=) c.5986C= (p.Gln1996=) n.8327C= n.7316C= | |
| 12 | g.49042200G>T | CA384627151 | KMT2D | c.789C>A c.5998C>A (p.Gln2000Lys) c.6007C>A (p.Gln2003Lys) c.110C>A c.5995C>A (p.Gln1999Lys) c.6004C>A (p.Gln2002Lys) c.5986C>A (p.Gln1996Lys) n.8327C>A n.7316C>A | gnomAD v4 |
| 12 | g.49042201G>A | CA479712397 | KMT2D | c.788C>T c.5997C>T (p.Asn1999=) c.6006C>T (p.Asn2002=) c.109C>T c.5994C>T (p.Asn1998=) c.6003C>T (p.Asn2001=) c.5985C>T (p.Asn1995=) n.8326C>T n.7315C>T | |
| 12 | g.49042201G>C | CA384627154 | KMT2D | c.788C>G c.5997C>G (p.Asn1999Lys) c.6006C>G (p.Asn2002Lys) c.109C>G c.5994C>G (p.Asn1998Lys) c.6003C>G (p.Asn2001Lys) c.5985C>G (p.Asn1995Lys) n.8326C>G n.7315C>G | |
| 12 | g.49042201G>T | CA384627155 | KMT2D | c.788C>A c.5997C>A (p.Asn1999Lys) c.6006C>A (p.Asn2002Lys) c.109C>A c.5994C>A (p.Asn1998Lys) c.6003C>A (p.Asn2001Lys) c.5985C>A (p.Asn1995Lys) n.8326C>A n.7315C>A | |
| 12 | g.49042202T>A | CA384627158 | KMT2D | c.787A>T c.5996A>T (p.Asn1999Ile) c.6005A>T (p.Asn2002Ile) c.108A>T c.5993A>T (p.Asn1998Ile) c.6002A>T (p.Asn2001Ile) c.5984A>T (p.Asn1995Ile) n.8325A>T n.7314A>T | |
| 12 | g.49042202T>C | CA384627162 | KMT2D | c.787A>G c.5996A>G (p.Asn1999Ser) c.6005A>G (p.Asn2002Ser) c.108A>G c.5993A>G (p.Asn1998Ser) c.6002A>G (p.Asn2001Ser) c.5984A>G (p.Asn1995Ser) n.8325A>G n.7314A>G | |
| 12 | g.49042202T>G | CA384627160 | KMT2D | c.787A>C c.5996A>C (p.Asn1999Thr) c.6005A>C (p.Asn2002Thr) c.108A>C c.5993A>C (p.Asn1998Thr) c.6002A>C (p.Asn2001Thr) c.5984A>C (p.Asn1995Thr) n.8325A>C n.7314A>C |