Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49047939C>ACA2726149376KMT2Dc.4236+26G>T (n.4236+26G>T)
c.216+26G>T (n.216+26G>T)
c.4233+26G>T (n.4233+26G>T)
n.6556+26G>T
n.5545+26G>T
 dbSNP
12g.49047939C>TCA2726149378KMT2Dc.4236+26G>A (n.4236+26G>A)
c.216+26G>A (n.216+26G>A)
c.4233+26G>A (n.4233+26G>A)
n.6556+26G>A
n.5545+26G>A
 dbSNP
12g.49047940T>ACA2726149383KMT2Dc.4236+25A>T (n.4236+25A>T)
c.216+25A>T (n.216+25A>T)
c.4233+25A>T (n.4233+25A>T)
n.6556+25A>T
n.5545+25A>T
 dbSNP
12g.49047940T>CCA2726149391KMT2Dc.4236+25A>G (n.4236+25A>G)
c.216+25A>G (n.216+25A>G)
c.4233+25A>G (n.4233+25A>G)
n.6556+25A>G
n.5545+25A>G
 dbSNP
12g.49047941A>CCA2618610051KMT2Dc.4236+24T>G (n.4236+24T>G)
c.216+24T>G (n.216+24T>G)
c.4233+24T>G (n.4233+24T>G)
n.6556+24T>G
n.5545+24T>G
 gnomAD v4
12g.49047941A>TCA2575144627KMT2Dc.4236+24T>A (n.4236+24T>A)
c.216+24T>A (n.216+24T>A)
c.4233+24T>A (n.4233+24T>A)
n.6556+24T>A
n.5545+24T>A
 dbSNP
12g.49047942C>ACA2726072734KMT2Dc.4236+23G>T (n.4236+23G>T)
c.216+23G>T (n.216+23G>T)
c.4233+23G>T (n.4233+23G>T)
n.6556+23G>T
n.5545+23G>T
 dbSNP
12g.49047942C=CA2034958093KMT2Dc.4236+23G= (n.4236+23G=)
c.216+23G= (n.216+23G=)
c.4233+23G= (n.4233+23G=)
n.6556+23G=
n.5545+23G=
12g.49047942C>GCA2726072735KMT2Dc.4236+23G>C (n.4236+23G>C)
c.216+23G>C (n.216+23G>C)
c.4233+23G>C (n.4233+23G>C)
n.6556+23G>C
n.5545+23G>C
 dbSNP
12g.49047942C>TCA604885576KMT2Dc.4236+23G>A (n.4236+23G>A)
c.216+23G>A (n.216+23G>A)
c.4233+23G>A (n.4233+23G>A)
n.6556+23G>A
n.5545+23G>A
 dbSNP gnomAD v2 gnomAD v4
12g.49047943A>TCA2726149403KMT2Dc.4236+22T>A (n.4236+22T>A)
c.216+22T>A (n.216+22T>A)
c.4233+22T>A (n.4233+22T>A)
n.6556+22T>A
n.5545+22T>A
 dbSNP
12g.49047944C>ACA6547873KMT2Dc.4236+21G>T (n.4236+21G>T)
c.216+21G>T (n.216+21G>T)
c.4233+21G>T (n.4233+21G>T)
n.6556+21G>T
n.5545+21G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49047944C=CA2034958095KMT2Dc.4236+21G= (n.4236+21G=)
c.216+21G= (n.216+21G=)
c.4233+21G= (n.4233+21G=)
n.6556+21G=
n.5545+21G=
12g.49047944C>GCA2726053413KMT2Dc.4236+21G>C (n.4236+21G>C)
c.216+21G>C (n.216+21G>C)
c.4233+21G>C (n.4233+21G>C)
n.6556+21G>C
n.5545+21G>C
 dbSNP
12g.49047944C>TCA6547874KMT2Dc.4236+21G>A (n.4236+21G>A)
c.216+21G>A (n.216+21G>A)
c.4233+21G>A (n.4233+21G>A)
n.6556+21G>A
n.5545+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49047944_49047948delCA2795893206KMT2Dc.4236+17_4236+21del (n.4236+17_4236+21del)
c.216+17_216+21del (n.216+17_216+21del)
c.4233+17_4233+21del (n.4233+17_4233+21del)
n.6556+17_6556+21del
n.5545+17_5545+21del
12g.49047945C>ACA2726149405KMT2Dc.4236+20G>T (n.4236+20G>T)
c.216+20G>T (n.216+20G>T)
c.4233+20G>T (n.4233+20G>T)
n.6556+20G>T
n.5545+20G>T
 dbSNP
12g.49047945C>TCA2618610054KMT2Dc.4236+20G>A (n.4236+20G>A)
c.216+20G>A (n.216+20G>A)
c.4233+20G>A (n.4233+20G>A)
n.6556+20G>A
n.5545+20G>A
 dbSNP gnomAD v4
12g.49047946T>ACA2726149585KMT2Dc.4236+19A>T (n.4236+19A>T)
c.216+19A>T (n.216+19A>T)
c.4233+19A>T (n.4233+19A>T)
n.6556+19A>T
n.5545+19A>T
 dbSNP
12g.49047946T>CCA2726149583KMT2Dc.4236+19A>G (n.4236+19A>G)
c.216+19A>G (n.216+19A>G)
c.4233+19A>G (n.4233+19A>G)
n.6556+19A>G
n.5545+19A>G
 dbSNP
12g.49047947C>ACA2726099157KMT2Dc.4236+18G>T (n.4236+18G>T)
c.216+18G>T (n.216+18G>T)
c.4233+18G>T (n.4233+18G>T)
n.6556+18G>T
n.5545+18G>T
 dbSNP
12g.49047947C=CA2034958104KMT2Dc.4236+18G= (n.4236+18G=)
c.216+18G= (n.216+18G=)
c.4233+18G= (n.4233+18G=)
n.6556+18G=
n.5545+18G=
12g.49047947C>GCA2726099156KMT2Dc.4236+18G>C (n.4236+18G>C)
c.216+18G>C (n.216+18G>C)
c.4233+18G>C (n.4233+18G>C)
n.6556+18G>C
n.5545+18G>C
 dbSNP
12g.49047947C>TCA2034958107KMT2Dc.4236+18G>A (n.4236+18G>A)
c.216+18G>A (n.216+18G>A)
c.4233+18G>A (n.4233+18G>A)
n.6556+18G>A
n.5545+18G>A
 dbSNP
12g.49047948T>ACA2795893209KMT2Dc.4236+17A>T (n.4236+17A>T)
c.216+17A>T (n.216+17A>T)
c.4233+17A>T (n.4233+17A>T)
n.6556+17A>T
n.5545+17A>T
12g.49047948T>CCA236615310KMT2Dc.4236+17A>G (n.4236+17A>G)
c.216+17A>G (n.216+17A>G)
c.4233+17A>G (n.4233+17A>G)
n.6556+17A>G
n.5545+17A>G
 ClinVar dbSNP gnomAD v4
12g.49047948T>GCA2618610055KMT2Dc.4236+17A>C (n.4236+17A>C)
c.216+17A>C (n.216+17A>C)
c.4233+17A>C (n.4233+17A>C)
n.6556+17A>C
n.5545+17A>C
 gnomAD v4
12g.49047948T=CA2034958109KMT2Dc.4236+17A= (n.4236+17A=)
c.216+17A= (n.216+17A=)
c.4233+17A= (n.4233+17A=)
n.6556+17A=
n.5545+17A=
12g.49047950G>ACA604885582KMT2Dc.4236+15C>T (n.4236+15C>T)
c.216+15C>T (n.216+15C>T)
c.4233+15C>T (n.4233+15C>T)
n.6556+15C>T
n.5545+15C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49047950G>CCA2726088749KMT2Dc.4236+15C>G (n.4236+15C>G)
c.216+15C>G (n.216+15C>G)
c.4233+15C>G (n.4233+15C>G)
n.6556+15C>G
n.5545+15C>G
 dbSNP
12g.49047950G=CA2034958115KMT2Dc.4236+15C= (n.4236+15C=)
c.216+15C= (n.216+15C=)
c.4233+15C= (n.4233+15C=)
n.6556+15C=
n.5545+15C=
12g.49047950G>TCA2618610056KMT2Dc.4236+15C>A (n.4236+15C>A)
c.216+15C>A (n.216+15C>A)
c.4233+15C>A (n.4233+15C>A)
n.6556+15C>A
n.5545+15C>A
 dbSNP gnomAD v4
12g.49047951G>ACA2726149634KMT2Dc.4236+14C>T (n.4236+14C>T)
c.216+14C>T (n.216+14C>T)
c.4233+14C>T (n.4233+14C>T)
n.6556+14C>T
n.5545+14C>T
 dbSNP
12g.49047951G>CCA2726149618KMT2Dc.4236+14C>G (n.4236+14C>G)
c.216+14C>G (n.216+14C>G)
c.4233+14C>G (n.4233+14C>G)
n.6556+14C>G
n.5545+14C>G
 dbSNP
12g.49047951G>TCA2618610057KMT2Dc.4236+14C>A (n.4236+14C>A)
c.216+14C>A (n.216+14C>A)
c.4233+14C>A (n.4233+14C>A)
n.6556+14C>A
n.5545+14C>A
 dbSNP gnomAD v4
12g.49047952G>ACA2726149660KMT2Dc.4236+13C>T (n.4236+13C>T)
c.216+13C>T (n.216+13C>T)
c.4233+13C>T (n.4233+13C>T)
n.6556+13C>T
n.5545+13C>T
 dbSNP
12g.49047952G>CCA2726149655KMT2Dc.4236+13C>G (n.4236+13C>G)
c.216+13C>G (n.216+13C>G)
c.4233+13C>G (n.4233+13C>G)
n.6556+13C>G
n.5545+13C>G
 dbSNP
12g.49047952G>TCA2618610058KMT2Dc.4236+13C>A (n.4236+13C>A)
c.216+13C>A (n.216+13C>A)
c.4233+13C>A (n.4233+13C>A)
n.6556+13C>A
n.5545+13C>A
 dbSNP gnomAD v4
12g.49047953C>ACA2726149672KMT2Dc.4236+12G>T (n.4236+12G>T)
c.216+12G>T (n.216+12G>T)
c.4233+12G>T (n.4233+12G>T)
n.6556+12G>T
n.5545+12G>T
 dbSNP
12g.49047953C>GCA2726149687KMT2Dc.4236+12G>C (n.4236+12G>C)
c.216+12G>C (n.216+12G>C)
c.4233+12G>C (n.4233+12G>C)
n.6556+12G>C
n.5545+12G>C
 dbSNP
12g.49047953C>TCA2618610059KMT2Dc.4236+12G>A (n.4236+12G>A)
c.216+12G>A (n.216+12G>A)
c.4233+12G>A (n.4233+12G>A)
n.6556+12G>A
n.5545+12G>A
 dbSNP gnomAD v4
12g.49047954C>ACA2726149702KMT2Dc.4236+11G>T (n.4236+11G>T)
c.216+11G>T (n.216+11G>T)
c.4233+11G>T (n.4233+11G>T)
n.6556+11G>T
n.5545+11G>T
 dbSNP
12g.49047954C>GCA2726149726KMT2Dc.4236+11G>C (n.4236+11G>C)
c.216+11G>C (n.216+11G>C)
c.4233+11G>C (n.4233+11G>C)
n.6556+11G>C
n.5545+11G>C
 dbSNP
12g.49047954C>TCA2726149727KMT2Dc.4236+11G>A (n.4236+11G>A)
c.216+11G>A (n.216+11G>A)
c.4233+11G>A (n.4233+11G>A)
n.6556+11G>A
n.5545+11G>A
 dbSNP
12g.49047955C>ACA2726149741KMT2Dc.4236+10G>T (n.4236+10G>T)
c.216+10G>T (n.216+10G>T)
c.4233+10G>T (n.4233+10G>T)
n.6556+10G>T
n.5545+10G>T
 dbSNP
12g.49047955C>TCA2726149742KMT2Dc.4236+10G>A (n.4236+10G>A)
c.216+10G>A (n.216+10G>A)
c.4233+10G>A (n.4233+10G>A)
n.6556+10G>A
n.5545+10G>A
 dbSNP
12g.49047956T>ACA2726149906KMT2Dc.4236+9A>T (n.4236+9A>T)
c.216+9A>T (n.216+9A>T)
c.4233+9A>T (n.4233+9A>T)
n.6556+9A>T
n.5545+9A>T
 dbSNP
12g.49047956T>CCA2726150152KMT2Dc.4236+9A>G (n.4236+9A>G)
c.216+9A>G (n.216+9A>G)
c.4233+9A>G (n.4233+9A>G)
n.6556+9A>G
n.5545+9A>G
 dbSNP
12g.49047956T>GCA2726150150KMT2Dc.4236+9A>C (n.4236+9A>C)
c.216+9A>C (n.216+9A>C)
c.4233+9A>C (n.4233+9A>C)
n.6556+9A>C
n.5545+9A>C
 dbSNP
12g.49047957G>CCA2726150180KMT2Dc.4236+8C>G (n.4236+8C>G)
c.216+8C>G (n.216+8C>G)
c.4233+8C>G (n.4233+8C>G)
n.6556+8C>G
n.5545+8C>G
 dbSNP
12g.49047957G>TCA2575144628KMT2Dc.4236+8C>A (n.4236+8C>A)
c.216+8C>A (n.216+8C>A)
c.4233+8C>A (n.4233+8C>A)
n.6556+8C>A
n.5545+8C>A
 gnomAD v4
12g.49047958A>CCA2726150197KMT2Dc.4236+7T>G (n.4236+7T>G)
c.216+7T>G (n.216+7T>G)
c.4233+7T>G (n.4233+7T>G)
n.6556+7T>G
n.5545+7T>G
 dbSNP
12g.49047958A>TCA2726150198KMT2Dc.4236+7T>A (n.4236+7T>A)
c.216+7T>A (n.216+7T>A)
c.4233+7T>A (n.4233+7T>A)
n.6556+7T>A
n.5545+7T>A
 dbSNP
12g.49047960C>ACA2726150202KMT2Dc.4236+5G>T (n.4236+5G>T)
c.216+5G>T (n.216+5G>T)
c.4233+5G>T (n.4233+5G>T)
n.6556+5G>T
n.5545+5G>T
 dbSNP
12g.49047960C>GCA2726150207KMT2Dc.4236+5G>C (n.4236+5G>C)
c.216+5G>C (n.216+5G>C)
c.4233+5G>C (n.4233+5G>C)
n.6556+5G>C
n.5545+5G>C
 dbSNP
12g.49047960C>TCA2695216491KMT2Dc.4236+5G>A (n.4236+5G>A)
c.216+5G>A (n.216+5G>A)
c.4233+5G>A (n.4233+5G>A)
n.6556+5G>A
n.5545+5G>A
12g.49047961T>CCA2575144629KMT2Dc.4236+4A>G (n.4236+4A>G)
c.216+4A>G (n.216+4A>G)
c.4233+4A>G (n.4233+4A>G)
n.6556+4A>G
n.5545+4A>G
 dbSNP
12g.49047962C=CA2034958119KMT2Dc.4236+3G= (n.4236+3G=)
c.216+3G= (n.216+3G=)
c.4233+3G= (n.4233+3G=)
n.6556+3G=
n.5545+3G=
12g.49047962C>GCA2726071440KMT2Dc.4236+3G>C (n.4236+3G>C)
c.216+3G>C (n.216+3G>C)
c.4233+3G>C (n.4233+3G>C)
n.6556+3G>C
n.5545+3G>C
 dbSNP
12g.49047962C>TCA604885583KMT2Dc.4236+3G>A (n.4236+3G>A)
c.216+3G>A (n.216+3G>A)
c.4233+3G>A (n.4233+3G>A)
n.6556+3G>A
n.5545+3G>A
 dbSNP gnomAD v2 gnomAD v4
12g.49047963A>CCA384648957KMT2Dc.4236+2T>G (n.4236+2T>G)
c.216+2T>G (n.216+2T>G)
c.4233+2T>G (n.4233+2T>G)
n.6556+2T>G
n.5545+2T>G
12g.49047963A>GCA384648958KMT2Dc.4236+2T>C (n.4236+2T>C)
c.216+2T>C (n.216+2T>C)
c.4233+2T>C (n.4233+2T>C)
n.6556+2T>C
n.5545+2T>C
12g.49047963A>TCA384648959KMT2Dc.4236+2T>A (n.4236+2T>A)
c.216+2T>A (n.216+2T>A)
c.4233+2T>A (n.4233+2T>A)
n.6556+2T>A
n.5545+2T>A
12g.49047964C>ACA384648963KMT2Dc.4236+1G>T (n.4236+1G>T)
c.216+1G>T (n.216+1G>T)
c.4233+1G>T (n.4233+1G>T)
n.6556+1G>T
n.5545+1G>T
 dbSNP
12g.49047964C>GCA384648964KMT2Dc.4236+1G>C (n.4236+1G>C)
c.216+1G>C (n.216+1G>C)
c.4233+1G>C (n.4233+1G>C)
n.6556+1G>C
n.5545+1G>C
 dbSNP
12g.49047964C>TCA384648968KMT2Dc.4236+1G>A (n.4236+1G>A)
c.216+1G>A (n.216+1G>A)
c.4233+1G>A (n.4233+1G>A)
n.6556+1G>A
n.5545+1G>A
 dbSNP
12g.49047965C>ACA384648970KMT2Dc.4236G>T (p.Lys1412Asn)
c.216G>T (p.Lys72Asn)
c.4233G>T (p.Lys1411Asn)
n.6556G>T
n.5545G>T
12g.49047965C>GCA384648971KMT2Dc.4236G>C (p.Lys1412Asn)
c.216G>C (p.Lys72Asn)
c.4233G>C (p.Lys1411Asn)
n.6556G>C
n.5545G>C
12g.49047965C>TCA479514361KMT2Dc.4236G>A (p.Lys1412=)
c.216G>A (p.Lys72=)
c.4233G>A (p.Lys1411=)
n.6556G>A
n.5545G>A
 dbSNP
12g.49047966T>ACA384648975KMT2Dc.4235A>T (p.Lys1412Met)
c.215A>T (p.Lys72Met)
c.4232A>T (p.Lys1411Met)
n.6555A>T
n.5544A>T
12g.49047966T>CCA384648980KMT2Dc.4235A>G (p.Lys1412Arg)
c.215A>G (p.Lys72Arg)
c.4232A>G (p.Lys1411Arg)
n.6555A>G
n.5544A>G
 dbSNP COSMIC COSMIC
12g.49047966T>GCA384648984KMT2Dc.4235A>C (p.Lys1412Thr)
c.215A>C (p.Lys72Thr)
c.4232A>C (p.Lys1411Thr)
n.6555A>C
n.5544A>C
12g.49047967T>ACA384648989KMT2Dc.4234A>T (p.Lys1412Ter)
c.214A>T (p.Lys72Ter)
c.4231A>T (p.Lys1411Ter)
n.6554A>T
n.5543A>T
12g.49047967T>CCA384648988KMT2Dc.4234A>G (p.Lys1412Glu)
c.214A>G (p.Lys72Glu)
c.4231A>G (p.Lys1411Glu)
n.6554A>G
n.5543A>G
12g.49047967T>GCA384648987KMT2Dc.4234A>C (p.Lys1412Gln)
c.214A>C (p.Lys72Gln)
c.4231A>C (p.Lys1411Gln)
n.6554A>C
n.5543A>C
12g.49047968G>ACA479514363KMT2Dc.4233C>T (p.Ser1411=)
c.213C>T (p.Ser71=)
c.4230C>T (p.Ser1410=)
n.6553C>T
n.5542C>T
 dbSNP
12g.49047968G>CCA384649001KMT2Dc.4233C>G (p.Ser1411Arg)
c.213C>G (p.Ser71Arg)
c.4230C>G (p.Ser1410Arg)
n.6553C>G
n.5542C>G
 dbSNP
12g.49047968G>TCA384648991KMT2Dc.4233C>A (p.Ser1411Arg)
c.213C>A (p.Ser71Arg)
c.4230C>A (p.Ser1410Arg)
n.6553C>A
n.5542C>A
12g.49047969C>ACA384649010KMT2Dc.4232G>T (p.Ser1411Ile)
c.212G>T (p.Ser71Ile)
c.4229G>T (p.Ser1410Ile)
n.6552G>T
n.5541G>T
12g.49047969C=CA2034958123KMT2Dc.4232G= (p.Ser1411=)
c.212G= (p.Ser71=)
c.4229G= (p.Ser1410=)
n.6552G=
n.5541G=
12g.49047969C>GCA384649014KMT2Dc.4232G>C (p.Ser1411Thr)
c.212G>C (p.Ser71Thr)
c.4229G>C (p.Ser1410Thr)
n.6552G>C
n.5541G>C
 dbSNP
12g.49047969C>TCA384649018KMT2Dc.4232G>A (p.Ser1411Asn)
c.212G>A (p.Ser71Asn)
c.4229G>A (p.Ser1410Asn)
n.6552G>A
n.5541G>A
 dbSNP
12g.49047970T>ACA384649024KMT2Dc.4231A>T (p.Ser1411Cys)
c.211A>T (p.Ser71Cys)
c.4228A>T (p.Ser1410Cys)
n.6551A>T
n.5540A>T
12g.49047970T>CCA384649027KMT2Dc.4231A>G (p.Ser1411Gly)
c.211A>G (p.Ser71Gly)
c.4228A>G (p.Ser1410Gly)
n.6551A>G
n.5540A>G
12g.49047970T>GCA384649028KMT2Dc.4231A>C (p.Ser1411Arg)
c.211A>C (p.Ser71Arg)
c.4228A>C (p.Ser1410Arg)
n.6551A>C
n.5540A>C
12g.49047971G>ACA479514365KMT2Dc.4230C>T (p.Asn1410=)
c.210C>T (p.Asn70=)
c.4227C>T (p.Asn1409=)
n.6550C>T
n.5539C>T
12g.49047971G>CCA384649032KMT2Dc.4230C>G (p.Asn1410Lys)
c.210C>G (p.Asn70Lys)
c.4227C>G (p.Asn1409Lys)
n.6550C>G
n.5539C>G
12g.49047971G>TCA384649037KMT2Dc.4230C>A (p.Asn1410Lys)
c.210C>A (p.Asn70Lys)
c.4227C>A (p.Asn1409Lys)
n.6550C>A
n.5539C>A
 gnomAD v4
12g.49047972T>ACA384649042KMT2Dc.4229A>T (p.Asn1410Ile)
c.209A>T (p.Asn70Ile)
c.4226A>T (p.Asn1409Ile)
n.6549A>T
n.5538A>T
 dbSNP
12g.49047972T>CCA384649046KMT2Dc.4229A>G (p.Asn1410Ser)
c.209A>G (p.Asn70Ser)
c.4226A>G (p.Asn1409Ser)
n.6549A>G
n.5538A>G
12g.49047972T>GCA384649058KMT2Dc.4229A>C (p.Asn1410Thr)
c.209A>C (p.Asn70Thr)
c.4226A>C (p.Asn1409Thr)
n.6549A>C
n.5538A>C
12g.49047973T>ACA384649060KMT2Dc.4228A>T (p.Asn1410Tyr)
c.208A>T (p.Asn70Tyr)
c.4225A>T (p.Asn1409Tyr)
n.6548A>T
n.5537A>T
12g.49047973T>CCA384649063KMT2Dc.4228A>G (p.Asn1410Asp)
c.208A>G (p.Asn70Asp)
c.4225A>G (p.Asn1409Asp)
n.6548A>G
n.5537A>G
 dbSNP
12g.49047973T>GCA384649059KMT2Dc.4228A>C (p.Asn1410His)
c.208A>C (p.Asn70His)
c.4225A>C (p.Asn1409His)
n.6548A>C
n.5537A>C
12g.49047974G>ACA479514372KMT2Dc.4227C>T (p.Val1409=)
c.207C>T (p.Val69=)
c.4224C>T (p.Val1408=)
n.6547C>T
n.5536C>T
12g.49047974G>CCA479514373KMT2Dc.4227C>G (p.Val1409=)
c.207C>G (p.Val69=)
c.4224C>G (p.Val1408=)
n.6547C>G
n.5536C>G
 dbSNP
12g.49047974G=CA2034958126KMT2Dc.4227C= (p.Val1409=)
c.207C= (p.Val69=)
c.4224C= (p.Val1408=)
n.6547C=
n.5536C=
12g.49047974G>TCA479514374KMT2Dc.4227C>A (p.Val1409=)
c.207C>A (p.Val69=)
c.4224C>A (p.Val1408=)
n.6547C>A
n.5536C>A
12g.49047975A>CCA384649065KMT2Dc.4226T>G (p.Val1409Gly)
c.206T>G (p.Val69Gly)
c.4223T>G (p.Val1408Gly)
n.6546T>G
n.5535T>G
12g.49047975A>GCA384649067KMT2Dc.4226T>C (p.Val1409Ala)
c.206T>C (p.Val69Ala)
c.4223T>C (p.Val1408Ala)
n.6546T>C
n.5535T>C
12g.49047975A>TCA384649069KMT2Dc.4226T>A (p.Val1409Asp)
c.206T>A (p.Val69Asp)
c.4223T>A (p.Val1408Asp)
n.6546T>A
n.5535T>A
 dbSNP
12g.49047976C>ACA384649070KMT2Dc.4225G>T (p.Val1409Phe)
c.205G>T (p.Val69Phe)
c.4222G>T (p.Val1408Phe)
n.6545G>T
n.5534G>T
12g.49047976C>GCA384649073KMT2Dc.4225G>C (p.Val1409Leu)
c.205G>C (p.Val69Leu)
c.4222G>C (p.Val1408Leu)
n.6545G>C
n.5534G>C
 dbSNP
12g.49047976C>TCA384649078KMT2Dc.4225G>A (p.Val1409Ile)
c.205G>A (p.Val69Ile)
c.4222G>A (p.Val1408Ile)
n.6545G>A
n.5534G>A
 dbSNP
12g.49047977A>CCA384649082KMT2Dc.4224T>G (p.Cys1408Trp)
c.204T>G (p.Cys68Trp)
c.4221T>G (p.Cys1407Trp)
n.6544T>G
n.5533T>G
12g.49047977A>GCA479514379KMT2Dc.4224T>C (p.Cys1408=)
c.204T>C (p.Cys68=)
c.4221T>C (p.Cys1407=)
n.6544T>C
n.5533T>C
12g.49047977A>TCA384649083KMT2Dc.4224T>A (p.Cys1408Ter)
c.204T>A (p.Cys68Ter)
c.4221T>A (p.Cys1407Ter)
n.6544T>A
n.5533T>A
 dbSNP
12g.49047978C>ACA384649084KMT2Dc.4223G>T (p.Cys1408Phe)
c.203G>T (p.Cys68Phe)
c.4220G>T (p.Cys1407Phe)
n.6543G>T
n.5532G>T
 COSMIC COSMIC
12g.49047978C>GCA384649085KMT2Dc.4223G>C (p.Cys1408Ser)
c.203G>C (p.Cys68Ser)
c.4220G>C (p.Cys1407Ser)
n.6543G>C
n.5532G>C
 dbSNP
12g.49047978C>TCA384649092KMT2Dc.4223G>A (p.Cys1408Tyr)
c.203G>A (p.Cys68Tyr)
c.4220G>A (p.Cys1407Tyr)
n.6543G>A
n.5532G>A
 dbSNP COSMIC COSMIC
12g.49047979A=CA2034958133KMT2Dc.4222T= (p.Cys1408=)
c.202T= (p.Cys68=)
c.4219T= (p.Cys1407=)
n.6542T=
n.5531T=
12g.49047979A>CCA384649101KMT2Dc.4222T>G (p.Cys1408Gly)
c.202T>G (p.Cys68Gly)
c.4219T>G (p.Cys1407Gly)
n.6542T>G
n.5531T>G
 ClinVar dbSNP
12g.49047979A>GCA384649102KMT2Dc.4222T>C (p.Cys1408Arg)
c.202T>C (p.Cys68Arg)
c.4219T>C (p.Cys1407Arg)
n.6542T>C
n.5531T>C
 dbSNP
12g.49047979A>TCA384649103KMT2Dc.4222T>A (p.Cys1408Ser)
c.202T>A (p.Cys68Ser)
c.4219T>A (p.Cys1407Ser)
n.6542T>A
n.5531T>A
 dbSNP
12g.49047979_49047980delinsAGCA2034958132KMT2Dc.4221_4222delinsCT (p.Tyr1407=)
c.201_202delinsCT (p.Tyr67=)
c.4218_4219delinsCT (p.Tyr1406=)
n.6541_6542delinsCT
n.5530_5531delinsCT
12g.49047981_49047984delCA2695216494KMT2Dc.4219_4222del (p.Tyr1407ValfsTer9)
c.199_202del (p.Tyr67ValfsTer9)
c.4216_4219del (p.Tyr1406ValfsTer9)
n.6539_6542del
n.5528_5531del
12g.49047980delCA271640KMT2Dc.4221del (p.Cys1408ValfsTer9)
c.201del (p.Cys68ValfsTer9)
c.4218del (p.Cys1407ValfsTer9)
n.6541del
n.5530del
 ClinVar dbSNP
12g.49047980G>ACA479514381KMT2Dc.4221C>T (p.Tyr1407=)
c.201C>T (p.Tyr67=)
c.4218C>T (p.Tyr1406=)
n.6541C>T
n.5530C>T
 dbSNP gnomAD v4
12g.49047980G>CCA384649111KMT2Dc.4221C>G (p.Tyr1407Ter)
c.201C>G (p.Tyr67Ter)
c.4218C>G (p.Tyr1406Ter)
n.6541C>G
n.5530C>G
 dbSNP
12g.49047980G>TCA384649114KMT2Dc.4221C>A (p.Tyr1407Ter)
c.201C>A (p.Tyr67Ter)
c.4218C>A (p.Tyr1406Ter)
n.6541C>A
n.5530C>A
12g.49047981T>ACA384649116KMT2Dc.4220A>T (p.Tyr1407Phe)
c.200A>T (p.Tyr67Phe)
c.4217A>T (p.Tyr1406Phe)
n.6540A>T
n.5529A>T
12g.49047981T>CCA384649120KMT2Dc.4220A>G (p.Tyr1407Cys)
c.200A>G (p.Tyr67Cys)
c.4217A>G (p.Tyr1406Cys)
n.6540A>G
n.5529A>G
 dbSNP gnomAD v2
12g.49047981T>GCA384649118KMT2Dc.4220A>C (p.Tyr1407Ser)
c.200A>C (p.Tyr67Ser)
c.4217A>C (p.Tyr1406Ser)
n.6540A>C
n.5529A>C
12g.49047981T=CA2034958147KMT2Dc.4220A= (p.Tyr1407=)
c.200A= (p.Tyr67=)
c.4217A= (p.Tyr1406=)
n.6540A=
n.5529A=
12g.49047982A>CCA384649122KMT2Dc.4219T>G (p.Tyr1407Asp)
c.199T>G (p.Tyr67Asp)
c.4216T>G (p.Tyr1406Asp)
n.6539T>G
n.5528T>G
12g.49047982A>GCA384649124KMT2Dc.4219T>C (p.Tyr1407His)
c.199T>C (p.Tyr67His)
c.4216T>C (p.Tyr1406His)
n.6539T>C
n.5528T>C
12g.49047982A>TCA384649130KMT2Dc.4219T>A (p.Tyr1407Asn)
c.199T>A (p.Tyr67Asn)
c.4216T>A (p.Tyr1406Asn)
n.6539T>A
n.5528T>A
12g.49047983A>CCA479514382KMT2Dc.4218T>G (p.Pro1406=)
c.198T>G (p.Pro66=)
c.4215T>G (p.Pro1405=)
n.6538T>G
n.5527T>G
12g.49047983A>GCA479514384KMT2Dc.4218T>C (p.Pro1406=)
c.198T>C (p.Pro66=)
c.4215T>C (p.Pro1405=)
n.6538T>C
n.5527T>C
12g.49047983A>TCA479514383KMT2Dc.4218T>A (p.Pro1406=)
c.198T>A (p.Pro66=)
c.4215T>A (p.Pro1405=)
n.6538T>A
n.5527T>A
12g.49047984G>ACA236615314KMT2Dc.4217C>T (p.Pro1406Leu)
c.197C>T (p.Pro66Leu)
c.4214C>T (p.Pro1405Leu)
n.6537C>T
n.5526C>T
 dbSNP
12g.49047984G>CCA384649138KMT2Dc.4217C>G (p.Pro1406Arg)
c.197C>G (p.Pro66Arg)
c.4214C>G (p.Pro1405Arg)
n.6537C>G
n.5526C>G
 dbSNP
12g.49047984G=CA2034958152KMT2Dc.4217C= (p.Pro1406=)
c.197C= (p.Pro66=)
c.4214C= (p.Pro1405=)
n.6537C=
n.5526C=
12g.49047984G>TCA384649142KMT2Dc.4217C>A (p.Pro1406His)
c.197C>A (p.Pro66His)
c.4214C>A (p.Pro1405His)
n.6537C>A
n.5526C>A
 dbSNP
12g.49047986dupCA2841830778KMT2Dc.4217dup (p.Tyr1407LeufsTer25)
c.197dup (p.Tyr67LeufsTer25)
c.4214dup (p.Tyr1406LeufsTer25)
n.6537dup
n.5526dup
12g.49047985G>ACA384649147KMT2Dc.4216C>T (p.Pro1406Ser)
c.196C>T (p.Pro66Ser)
c.4213C>T (p.Pro1405Ser)
n.6536C>T
n.5525C>T
 dbSNP
12g.49047985G>CCA384649155KMT2Dc.4216C>G (p.Pro1406Ala)
c.196C>G (p.Pro66Ala)
c.4213C>G (p.Pro1405Ala)
n.6536C>G
n.5525C>G
 dbSNP
12g.49047985G>TCA384649161KMT2Dc.4216C>A (p.Pro1406Thr)
c.196C>A (p.Pro66Thr)
c.4213C>A (p.Pro1405Thr)
n.6536C>A
n.5525C>A
12g.49047986G>ACA479514385KMT2Dc.4215C>T (p.His1405=)
c.195C>T (p.His65=)
c.4212C>T (p.His1404=)
n.6535C>T
n.5524C>T
 dbSNP
12g.49047986G>CCA384649162KMT2Dc.4215C>G (p.His1405Gln)
c.195C>G (p.His65Gln)
c.4212C>G (p.His1404Gln)
n.6535C>G
n.5524C>G
 dbSNP
12g.49047986G>TCA384649164KMT2Dc.4215C>A (p.His1405Gln)
c.195C>A (p.His65Gln)
c.4212C>A (p.His1404Gln)
n.6535C>A
n.5524C>A
12g.49047987T>ACA384649181KMT2Dc.4214A>T (p.His1405Leu)
c.194A>T (p.His65Leu)
c.4211A>T (p.His1404Leu)
n.6534A>T
n.5523A>T
 dbSNP
12g.49047987T>CCA384649167KMT2Dc.4214A>G (p.His1405Arg)
c.194A>G (p.His65Arg)
c.4211A>G (p.His1404Arg)
n.6534A>G
n.5523A>G
 ClinVar dbSNP COSMIC COSMIC
12g.49047987T>GCA384649176KMT2Dc.4214A>C (p.His1405Pro)
c.194A>C (p.His65Pro)
c.4211A>C (p.His1404Pro)
n.6534A>C
n.5523A>C
 dbSNP
12g.49047987T=CA2034958160KMT2Dc.4214A= (p.His1405=)
c.194A= (p.His65=)
c.4211A= (p.His1404=)
n.6534A=
n.5523A=
12g.49047988G>ACA384649184KMT2Dc.4213C>T (p.His1405Tyr)
c.193C>T (p.His65Tyr)
c.4210C>T (p.His1404Tyr)
n.6533C>T
n.5522C>T
 dbSNP COSMIC COSMIC
12g.49047988G>CCA384649191KMT2Dc.4213C>G (p.His1405Asp)
c.193C>G (p.His65Asp)
c.4210C>G (p.His1404Asp)
n.6533C>G
n.5522C>G
 dbSNP
12g.49047988G>TCA384649197KMT2Dc.4213C>A (p.His1405Asn)
c.193C>A (p.His65Asn)
c.4210C>A (p.His1404Asn)
n.6533C>A
n.5522C>A
 dbSNP
12g.49047989A>CCA384649203KMT2Dc.4212T>G (p.Tyr1404Ter)
c.192T>G (p.Tyr64Ter)
c.4209T>G (p.Tyr1403Ter)
n.6532T>G
n.5521T>G
 dbSNP
12g.49047989A>GCA479514386KMT2Dc.4212T>C (p.Tyr1404=)
c.192T>C (p.Tyr64=)
c.4209T>C (p.Tyr1403=)
n.6532T>C
n.5521T>C
12g.49047989A>TCA384649210KMT2Dc.4212T>A (p.Tyr1404Ter)
c.192T>A (p.Tyr64Ter)
c.4209T>A (p.Tyr1403Ter)
n.6532T>A
n.5521T>A
 COSMIC
12g.49047990T>ACA384649216KMT2Dc.4211A>T (p.Tyr1404Phe)
c.191A>T (p.Tyr64Phe)
c.4208A>T (p.Tyr1403Phe)
n.6531A>T
n.5520A>T
12g.49047990T>CCA384649217KMT2Dc.4211A>G (p.Tyr1404Cys)
c.191A>G (p.Tyr64Cys)
c.4208A>G (p.Tyr1403Cys)
n.6531A>G
n.5520A>G
 ClinVar gnomAD v4
12g.49047990T>GCA384649218KMT2Dc.4211A>C (p.Tyr1404Ser)
c.191A>C (p.Tyr64Ser)
c.4208A>C (p.Tyr1403Ser)
n.6531A>C
n.5520A>C
12g.49047991A>CCA384649220KMT2Dc.4210T>G (p.Tyr1404Asp)
c.190T>G (p.Tyr64Asp)
c.4207T>G (p.Tyr1403Asp)
n.6530T>G
n.5519T>G
12g.49047991A>GCA384649222KMT2Dc.4210T>C (p.Tyr1404His)
c.190T>C (p.Tyr64His)
c.4207T>C (p.Tyr1403His)
n.6530T>C
n.5519T>C
 dbSNP
12g.49047991A>TCA384649225KMT2Dc.4210T>A (p.Tyr1404Asn)
c.190T>A (p.Tyr64Asn)
c.4207T>A (p.Tyr1403Asn)
n.6530T>A
n.5519T>A
 dbSNP
12g.49047998_49048006delCA2695216495KMT2Dc.4202_4210del (p.Ser1401_Cys1403del)
c.182_190del (p.Ser61_Cys63del)
c.4199_4207del (p.Ser1400_Cys1402del)
n.6522_6530del
n.5511_5519del
12g.49047992G>ACA479514387KMT2Dc.4209C>T (p.Cys1403=)
c.189C>T (p.Cys63=)
c.4206C>T (p.Cys1402=)
n.6529C>T
n.5518C>T
 dbSNP
12g.49047992G>CCA384649241KMT2Dc.4209C>G (p.Cys1403Trp)
c.189C>G (p.Cys63Trp)
c.4206C>G (p.Cys1402Trp)
n.6529C>G
n.5518C>G
 dbSNP
12g.49047992G=CA2034958170KMT2Dc.4209C= (p.Cys1403=)
c.189C= (p.Cys63=)
c.4206C= (p.Cys1402=)
n.6529C=
n.5518C=
12g.49047992G>TCA384649236KMT2Dc.4209C>A (p.Cys1403Ter)
c.189C>A (p.Cys63Ter)
c.4206C>A (p.Cys1402Ter)
n.6529C>A
n.5518C>A
 ClinVar dbSNP
12g.49047993C>ACA384649245KMT2Dc.4208G>T (p.Cys1403Phe)
c.188G>T (p.Cys63Phe)
c.4205G>T (p.Cys1402Phe)
n.6528G>T
n.5517G>T
12g.49047993C>GCA384649257KMT2Dc.4208G>C (p.Cys1403Ser)
c.188G>C (p.Cys63Ser)
c.4205G>C (p.Cys1402Ser)
n.6528G>C
n.5517G>C
12g.49047993C>TCA384649263KMT2Dc.4208G>A (p.Cys1403Tyr)
c.188G>A (p.Cys63Tyr)
c.4205G>A (p.Cys1402Tyr)
n.6528G>A
n.5517G>A
12g.49047994A>CCA384649266KMT2Dc.4207T>G (p.Cys1403Gly)
c.187T>G (p.Cys63Gly)
c.4204T>G (p.Cys1402Gly)
n.6527T>G
n.5516T>G
 dbSNP
12g.49047994A>GCA384649270KMT2Dc.4207T>C (p.Cys1403Arg)
c.187T>C (p.Cys63Arg)
c.4204T>C (p.Cys1402Arg)
n.6527T>C
n.5516T>C
12g.49047994A>TCA384649272KMT2Dc.4207T>A (p.Cys1403Ser)
c.187T>A (p.Cys63Ser)
c.4204T>A (p.Cys1402Ser)
n.6527T>A
n.5516T>A
12g.49047995C>ACA384649274KMT2Dc.4206G>T (p.Gln1402His)
c.186G>T (p.Gln62His)
c.4203G>T (p.Gln1401His)
n.6526G>T
n.5515G>T
12g.49047995C>GCA384649273KMT2Dc.4206G>C (p.Gln1402His)
c.186G>C (p.Gln62His)
c.4203G>C (p.Gln1401His)
n.6526G>C
n.5515G>C
 dbSNP
12g.49047995C>TCA479514388KMT2Dc.4206G>A (p.Gln1402=)
c.186G>A (p.Gln62=)
c.4203G>A (p.Gln1401=)
n.6526G>A
n.5515G>A
12g.49047995dupCA2838393052KMT2Dc.4206dup (p.Cys1403ValfsTer29)
c.186dup (p.Cys63ValfsTer29)
c.4203dup (p.Cys1402ValfsTer29)
n.6526dup
n.5515dup
12g.49047996T>ACA384649276KMT2Dc.4205A>T (p.Gln1402Leu)
c.185A>T (p.Gln62Leu)
c.4202A>T (p.Gln1401Leu)
n.6525A>T
n.5514A>T
 dbSNP
12g.49047996T>CCA384649278KMT2Dc.4205A>G (p.Gln1402Arg)
c.185A>G (p.Gln62Arg)
c.4202A>G (p.Gln1401Arg)
n.6525A>G
n.5514A>G
12g.49047996T>GCA384649280KMT2Dc.4205A>C (p.Gln1402Pro)
c.185A>C (p.Gln62Pro)
c.4202A>C (p.Gln1401Pro)
n.6525A>C
n.5514A>C
12g.49047997G>ACA384649283KMT2Dc.4204C>T (p.Gln1402Ter)
c.184C>T (p.Gln62Ter)
c.4201C>T (p.Gln1401Ter)
n.6524C>T
n.5513C>T
 ClinVar dbSNP COSMIC COSMIC
12g.49047997G>CCA384649288KMT2Dc.4204C>G (p.Gln1402Glu)
c.184C>G (p.Gln62Glu)
c.4201C>G (p.Gln1401Glu)
n.6524C>G
n.5513C>G
 dbSNP
12g.49047997G=CA2034958181KMT2Dc.4204C= (p.Gln1402=)
c.184C= (p.Gln62=)
c.4201C= (p.Gln1401=)
n.6524C=
n.5513C=
12g.49047997G>TCA384649299KMT2Dc.4204C>A (p.Gln1402Lys)
c.184C>A (p.Gln62Lys)
c.4201C>A (p.Gln1401Lys)
n.6524C>A
n.5513C>A
 dbSNP
12g.49047998A>CCA479514389KMT2Dc.4203T>G (p.Ser1401=)
c.183T>G (p.Ser61=)
c.4200T>G (p.Ser1400=)
n.6523T>G
n.5512T>G
12g.49047998A>GCA479514391KMT2Dc.4203T>C (p.Ser1401=)
c.183T>C (p.Ser61=)
c.4200T>C (p.Ser1400=)
n.6523T>C
n.5512T>C
12g.49047998A>TCA479514390KMT2Dc.4203T>A (p.Ser1401=)
c.183T>A (p.Ser61=)
c.4200T>A (p.Ser1400=)
n.6523T>A
n.5512T>A
 dbSNP
12g.49047999G>ACA384649304KMT2Dc.4202C>T (p.Ser1401Phe)
c.182C>T (p.Ser61Phe)
c.4199C>T (p.Ser1400Phe)
n.6522C>T
n.5511C>T
 dbSNP
12g.49047999G>CCA384649306KMT2Dc.4202C>G (p.Ser1401Cys)
c.182C>G (p.Ser61Cys)
c.4199C>G (p.Ser1400Cys)
n.6522C>G
n.5511C>G
 ClinVar dbSNP gnomAD v4
12g.49047999G=CA2034958189KMT2Dc.4202C= (p.Ser1401=)
c.182C= (p.Ser61=)
c.4199C= (p.Ser1400=)
n.6522C=
n.5511C=
12g.49047999G>TCA384649305KMT2Dc.4202C>A (p.Ser1401Tyr)
c.182C>A (p.Ser61Tyr)
c.4199C>A (p.Ser1400Tyr)
n.6522C>A
n.5511C>A
 dbSNP
12g.49048000A>CCA384649307KMT2Dc.4201T>G (p.Ser1401Ala)
c.181T>G (p.Ser61Ala)
c.4198T>G (p.Ser1400Ala)
n.6521T>G
n.5510T>G
12g.49048000A>GCA384649308KMT2Dc.4201T>C (p.Ser1401Pro)
c.181T>C (p.Ser61Pro)
c.4198T>C (p.Ser1400Pro)
n.6521T>C
n.5510T>C
 dbSNP
12g.49048000A>TCA384649309KMT2Dc.4201T>A (p.Ser1401Thr)
c.181T>A (p.Ser61Thr)
c.4198T>A (p.Ser1400Thr)
n.6521T>A
n.5510T>A
12g.49048001G>ACA479514392KMT2Dc.4200C>T (p.Cys1400=)
c.180C>T (p.Cys60=)
c.4197C>T (p.Cys1399=)
n.6520C>T
n.5509C>T
 dbSNP
12g.49048001G>CCA384649310KMT2Dc.4200C>G (p.Cys1400Trp)
c.180C>G (p.Cys60Trp)
c.4197C>G (p.Cys1399Trp)
n.6520C>G
n.5509C>G
 dbSNP
12g.49048001G>TCA384649311KMT2Dc.4200C>A (p.Cys1400Ter)
c.180C>A (p.Cys60Ter)
c.4197C>A (p.Cys1399Ter)
n.6520C>A
n.5509C>A
12g.49048002C>ACA384649318KMT2Dc.4199G>T (p.Cys1400Phe)
c.179G>T (p.Cys60Phe)
c.4196G>T (p.Cys1399Phe)
n.6519G>T
n.5508G>T
12g.49048002C>GCA384649319KMT2Dc.4199G>C (p.Cys1400Ser)
c.179G>C (p.Cys60Ser)
c.4196G>C (p.Cys1399Ser)
n.6519G>C
n.5508G>C
 dbSNP
12g.49048002C>TCA384649320KMT2Dc.4199G>A (p.Cys1400Tyr)
c.179G>A (p.Cys60Tyr)
c.4196G>A (p.Cys1399Tyr)
n.6519G>A
n.5508G>A
 dbSNP
12g.49048003A>CCA384649322KMT2Dc.4198T>G (p.Cys1400Gly)
c.178T>G (p.Cys60Gly)
c.4195T>G (p.Cys1399Gly)
n.6518T>G
n.5507T>G
 dbSNP
12g.49048003A>GCA384649325KMT2Dc.4198T>C (p.Cys1400Arg)
c.178T>C (p.Cys60Arg)
c.4195T>C (p.Cys1399Arg)
n.6518T>C
n.5507T>C
 ClinVar COSMIC COSMIC
12g.49048003A>TCA384649332KMT2Dc.4198T>A (p.Cys1400Ser)
c.178T>A (p.Cys60Ser)
c.4195T>A (p.Cys1399Ser)
n.6518T>A
n.5507T>A
 dbSNP
12g.49048004C>ACA384649346KMT2Dc.4197G>T (p.Gln1399His)
c.177G>T (p.Gln59His)
c.4194G>T (p.Gln1398His)
n.6517G>T
n.5506G>T
12g.49048004C=CA2034958193KMT2Dc.4197G= (p.Gln1399=)
c.177G= (p.Gln59=)
c.4194G= (p.Gln1398=)
n.6517G=
n.5506G=
12g.49048004C>GCA384649344KMT2Dc.4197G>C (p.Gln1399His)
c.177G>C (p.Gln59His)
c.4194G>C (p.Gln1398His)
n.6517G>C
n.5506G>C
 dbSNP
12g.49048004C>TCA6547875KMT2Dc.4197G>A (p.Gln1399=)
c.177G>A (p.Gln59=)
c.4194G>A (p.Gln1398=)
n.6517G>A
n.5506G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048005T>ACA384649349KMT2Dc.4196A>T (p.Gln1399Leu)
c.176A>T (p.Gln59Leu)
c.4193A>T (p.Gln1398Leu)
n.6516A>T
n.5505A>T
 dbSNP
12g.49048005T>CCA384649350KMT2Dc.4196A>G (p.Gln1399Arg)
c.176A>G (p.Gln59Arg)
c.4193A>G (p.Gln1398Arg)
n.6516A>G
n.5505A>G
 dbSNP
12g.49048005T>GCA384649351KMT2Dc.4196A>C (p.Gln1399Pro)
c.176A>C (p.Gln59Pro)
c.4193A>C (p.Gln1398Pro)
n.6516A>C
n.5505A>C
12g.49048006G>ACA384649353KMT2Dc.4195C>T (p.Gln1399Ter)
c.175C>T (p.Gln59Ter)
c.4192C>T (p.Gln1398Ter)
n.6515C>T
n.5504C>T
 dbSNP
12g.49048006G>CCA384649356KMT2Dc.4195C>G (p.Gln1399Glu)
c.175C>G (p.Gln59Glu)
c.4192C>G (p.Gln1398Glu)
n.6515C>G
n.5504C>G
 dbSNP
12g.49048006G>TCA384649363KMT2Dc.4195C>A (p.Gln1399Lys)
c.175C>A (p.Gln59Lys)
c.4192C>A (p.Gln1398Lys)
n.6515C>A
n.5504C>A
12g.49048007C>ACA479514393KMT2Dc.4194G>T (p.Ser1398=)
c.174G>T (p.Ser58=)
c.4191G>T (p.Ser1397=)
n.6514G>T
n.5503G>T
 dbSNP gnomAD v2 gnomAD v4
12g.49048007C=CA2034958200KMT2Dc.4194G= (p.Ser1398=)
c.174G= (p.Ser58=)
c.4191G= (p.Ser1397=)
n.6514G=
n.5503G=
12g.49048007C>GCA479514394KMT2Dc.4194G>C (p.Ser1398=)
c.174G>C (p.Ser58=)
c.4191G>C (p.Ser1397=)
n.6514G>C
n.5503G>C
 dbSNP gnomAD v4
12g.49048007C>TCA6547876KMT2Dc.4194G>A (p.Ser1398=)
c.174G>A (p.Ser58=)
c.4191G>A (p.Ser1397=)
n.6514G>A
n.5503G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048008G>ACA384649387KMT2Dc.4193C>T (p.Ser1398Leu)
c.173C>T (p.Ser58Leu)
c.4190C>T (p.Ser1397Leu)
n.6513C>T
n.5502C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49048008G>CCA384649380KMT2Dc.4193C>G (p.Ser1398Trp)
c.173C>G (p.Ser58Trp)
c.4190C>G (p.Ser1397Trp)
n.6513C>G
n.5502C>G
 dbSNP gnomAD v3 gnomAD v4
12g.49048008G=CA2034958207KMT2Dc.4193C= (p.Ser1398=)
c.173C= (p.Ser58=)
c.4190C= (p.Ser1397=)
n.6513C=
n.5502C=
12g.49048008G>TCA384649384KMT2Dc.4193C>A (p.Ser1398Ter)
c.173C>A (p.Ser58Ter)
c.4190C>A (p.Ser1397Ter)
n.6513C>A
n.5502C>A
 gnomAD v4
12g.49048009A>CCA384649394KMT2Dc.4192T>G (p.Ser1398Ala)
c.172T>G (p.Ser58Ala)
c.4189T>G (p.Ser1397Ala)
n.6512T>G
n.5501T>G
12g.49048009A>GCA384649396KMT2Dc.4192T>C (p.Ser1398Pro)
c.172T>C (p.Ser58Pro)
c.4189T>C (p.Ser1397Pro)
n.6512T>C
n.5501T>C
 dbSNP
12g.49048009A>TCA384649399KMT2Dc.4192T>A (p.Ser1398Thr)
c.172T>A (p.Ser58Thr)
c.4189T>A (p.Ser1397Thr)
n.6512T>A
n.5501T>A
 dbSNP
12g.49048010A=CA2034958213KMT2Dc.4191T= (p.Cys1397=)
c.171T= (p.Cys57=)
c.4188T= (p.Cys1396=)
n.6511T=
n.5500T=
12g.49048010A>CCA384649403KMT2Dc.4191T>G (p.Cys1397Trp)
c.171T>G (p.Cys57Trp)
c.4188T>G (p.Cys1396Trp)
n.6511T>G
n.5500T>G
 dbSNP
12g.49048010A>GCA479514395KMT2Dc.4191T>C (p.Cys1397=)
c.171T>C (p.Cys57=)
c.4188T>C (p.Cys1396=)
n.6511T>C
n.5500T>C
 dbSNP
12g.49048010A>TCA384649407KMT2Dc.4191T>A (p.Cys1397Ter)
c.171T>A (p.Cys57Ter)
c.4188T>A (p.Cys1396Ter)
n.6511T>A
n.5500T>A
 dbSNP
12g.49048011C>ACA384649414KMT2Dc.4190G>T (p.Cys1397Phe)
c.170G>T (p.Cys57Phe)
c.4187G>T (p.Cys1396Phe)
n.6510G>T
n.5499G>T
 dbSNP
12g.49048011C>GCA384649422KMT2Dc.4190G>C (p.Cys1397Ser)
c.170G>C (p.Cys57Ser)
c.4187G>C (p.Cys1396Ser)
n.6510G>C
n.5499G>C
 dbSNP
12g.49048011C>TCA384649417KMT2Dc.4190G>A (p.Cys1397Tyr)
c.170G>A (p.Cys57Tyr)
c.4187G>A (p.Cys1396Tyr)
n.6510G>A
n.5499G>A
 dbSNP
12g.49048012A>CCA384649423KMT2Dc.4189T>G (p.Cys1397Gly)
c.169T>G (p.Cys57Gly)
c.4186T>G (p.Cys1396Gly)
n.6509T>G
n.5498T>G
12g.49048012A>GCA384649425KMT2Dc.4189T>C (p.Cys1397Arg)
c.169T>C (p.Cys57Arg)
c.4186T>C (p.Cys1396Arg)
n.6509T>C
n.5498T>C
 dbSNP
12g.49048012A>TCA384649430KMT2Dc.4189T>A (p.Cys1397Ser)
c.169T>A (p.Cys57Ser)
c.4186T>A (p.Cys1396Ser)
n.6509T>A
n.5498T>A
 dbSNP
12g.49048013G>ACA479514399KMT2Dc.4188C>T (p.Ala1396=)
c.168C>T (p.Ala56=)
c.4185C>T (p.Ala1395=)
n.6508C>T
n.5497C>T
 ClinVar dbSNP gnomAD v4
12g.49048013G>CCA479514397KMT2Dc.4188C>G (p.Ala1396=)
c.168C>G (p.Ala56=)
c.4185C>G (p.Ala1395=)
n.6508C>G
n.5497C>G
 dbSNP
12g.49048013G>TCA479514398KMT2Dc.4188C>A (p.Ala1396=)
c.168C>A (p.Ala56=)
c.4185C>A (p.Ala1395=)
n.6508C>A
n.5497C>A
 dbSNP
12g.49048014G>ACA384649439KMT2Dc.4187C>T (p.Ala1396Val)
c.167C>T (p.Ala56Val)
c.4184C>T (p.Ala1395Val)
n.6507C>T
n.5496C>T
 dbSNP
12g.49048014G>CCA384649440KMT2Dc.4187C>G (p.Ala1396Gly)
c.167C>G (p.Ala56Gly)
c.4184C>G (p.Ala1395Gly)
n.6507C>G
n.5496C>G
 dbSNP
12g.49048014G>TCA384649442KMT2Dc.4187C>A (p.Ala1396Asp)
c.167C>A (p.Ala56Asp)
c.4184C>A (p.Ala1395Asp)
n.6507C>A
n.5496C>A
12g.49048015C>ACA384649445KMT2Dc.4186G>T (p.Ala1396Ser)
c.166G>T (p.Ala56Ser)
c.4183G>T (p.Ala1395Ser)
n.6506G>T
n.5495G>T
12g.49048015C=CA2034958218KMT2Dc.4186G= (p.Ala1396=)
c.166G= (p.Ala56=)
c.4183G= (p.Ala1395=)
n.6506G=
n.5495G=
12g.49048015C>GCA384649447KMT2Dc.4186G>C (p.Ala1396Pro)
c.166G>C (p.Ala56Pro)
c.4183G>C (p.Ala1395Pro)
n.6506G>C
n.5495G>C
 gnomAD v4
12g.49048015C>TCA384649450KMT2Dc.4186G>A (p.Ala1396Thr)
c.166G>A (p.Ala56Thr)
c.4183G>A (p.Ala1395Thr)
n.6506G>A
n.5495G>A
 dbSNP
12g.49048016A>CCA479514403KMT2Dc.4185T>G (p.Leu1395=)
c.165T>G (p.Leu55=)
c.4182T>G (p.Leu1394=)
n.6505T>G
n.5494T>G
12g.49048016A>GCA479514404KMT2Dc.4185T>C (p.Leu1395=)
c.165T>C (p.Leu55=)
c.4182T>C (p.Leu1394=)
n.6505T>C
n.5494T>C
12g.49048016A>TCA479514405KMT2Dc.4185T>A (p.Leu1395=)
c.165T>A (p.Leu55=)
c.4182T>A (p.Leu1394=)
n.6505T>A
n.5494T>A
 dbSNP
12g.49048017delCA947442454KMT2Dc.4185del (p.Ala1396ProfsTer21)
c.165del (p.Ala56ProfsTer21)
c.4182del (p.Ala1395ProfsTer21)
n.6505del
n.5494del
 gnomAD v3 gnomAD v4
12g.49048016_49048022delinsAAGGAGGCA2034958222KMT2Dc.4179_4185delinsCCTCCTT (p.His1393=)
c.159_165delinsCCTCCTT (p.His53=)
c.4176_4182delinsCCTCCTT (p.His1392=)
n.6499_6505delinsCCTCCTT
n.5488_5494delinsCCTCCTT
12g.49048017A>CCA384649454KMT2Dc.4184T>G (p.Leu1395Arg)
c.164T>G (p.Leu55Arg)
c.4181T>G (p.Leu1394Arg)
n.6504T>G
n.5493T>G
12g.49048017A>GCA384649455KMT2Dc.4184T>C (p.Leu1395Pro)
c.164T>C (p.Leu55Pro)
c.4181T>C (p.Leu1394Pro)
n.6504T>C
n.5493T>C
12g.49048017A>TCA384649456KMT2Dc.4184T>A (p.Leu1395His)
c.164T>A (p.Leu55His)
c.4181T>A (p.Leu1394His)
n.6504T>A
n.5493T>A
12g.49048017_49048022delCA2034958223KMT2Dc.4179_4184del (p.Leu1394_Leu1395del)
c.159_164del (p.Leu54_Leu55del)
c.4176_4181del (p.Leu1393_Leu1394del)
n.6499_6504del
n.5488_5493del
 dbSNP
12g.49048018G>ACA384649469KMT2Dc.4183C>T (p.Leu1395Phe)
c.163C>T (p.Leu55Phe)
c.4180C>T (p.Leu1394Phe)
n.6503C>T
n.5492C>T
 dbSNP
12g.49048018G>CCA384649461KMT2Dc.4183C>G (p.Leu1395Val)
c.163C>G (p.Leu55Val)
c.4180C>G (p.Leu1394Val)
n.6503C>G
n.5492C>G
 gnomAD v4
12g.49048018G>TCA384649466KMT2Dc.4183C>A (p.Leu1395Ile)
c.163C>A (p.Leu55Ile)
c.4180C>A (p.Leu1394Ile)
n.6503C>A
n.5492C>A
 dbSNP
12g.49048019dupCA2839642194KMT2Dc.4183dup (p.Leu1395ProfsTer?)
c.163dup (p.Leu55ProfsTer?)
c.4180dup (p.Leu1394ProfsTer?)
n.6503dup
n.5492dup
12g.49048018_49048023delinsGGAGGTCA2034958226KMT2Dc.4178_4183delinsACCTCC (p.His1393=)
c.158_163delinsACCTCC (p.His53=)
c.4175_4180delinsACCTCC (p.His1392=)
n.6498_6503delinsACCTCC
n.5487_5492delinsACCTCC
12g.49048019G>ACA209219KMT2Dc.4182C>T (p.Leu1394=)
c.162C>T (p.Leu54=)
c.4179C>T (p.Leu1393=)
n.6502C>T
n.5491C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49048019G>CCA479514406KMT2Dc.4182C>G (p.Leu1394=)
c.162C>G (p.Leu54=)
c.4179C>G (p.Leu1393=)
n.6502C>G
n.5491C>G
 dbSNP
12g.49048019G=CA2034958233KMT2Dc.4182C= (p.Leu1394=)
c.162C= (p.Leu54=)
c.4179C= (p.Leu1393=)
n.6502C=
n.5491C=
12g.49048019G>TCA479514407KMT2Dc.4182C>A (p.Leu1394=)
c.162C>A (p.Leu54=)
c.4179C>A (p.Leu1393=)
n.6502C>A
n.5491C>A
 dbSNP
12g.49048020_49048024delCA947442469KMT2Dc.4178_4182del (p.His1393ProfsTer?)
c.158_162del (p.His53ProfsTer?)
c.4175_4179del (p.His1392ProfsTer?)
n.6498_6502del
n.5487_5491del
 dbSNP gnomAD v3 gnomAD v4
12g.49048020A>CCA384649479KMT2Dc.4181T>G (p.Leu1394Arg)
c.161T>G (p.Leu54Arg)
c.4178T>G (p.Leu1393Arg)
n.6501T>G
n.5490T>G
12g.49048020A>GCA384649483KMT2Dc.4181T>C (p.Leu1394Pro)
c.161T>C (p.Leu54Pro)
c.4178T>C (p.Leu1393Pro)
n.6501T>C
n.5490T>C
12g.49048020A>TCA384649486KMT2Dc.4181T>A (p.Leu1394His)
c.161T>A (p.Leu54His)
c.4178T>A (p.Leu1393His)
n.6501T>A
n.5490T>A
 dbSNP
12g.49048021G>ACA384649487KMT2Dc.4180C>T (p.Leu1394Phe)
c.160C>T (p.Leu54Phe)
c.4177C>T (p.Leu1393Phe)
n.6500C>T
n.5489C>T
 dbSNP
12g.49048021G>CCA384649490KMT2Dc.4180C>G (p.Leu1394Val)
c.160C>G (p.Leu54Val)
c.4177C>G (p.Leu1393Val)
n.6500C>G
n.5489C>G
 ClinVar dbSNP
12g.49048021G>TCA384649492KMT2Dc.4180C>A (p.Leu1394Ile)
c.160C>A (p.Leu54Ile)
c.4177C>A (p.Leu1393Ile)
n.6500C>A
n.5489C>A
12g.49048022G>ACA479514409KMT2Dc.4179C>T (p.His1393=)
c.159C>T (p.His53=)
c.4176C>T (p.His1392=)
n.6499C>T
n.5488C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49048022G>CCA384649497KMT2Dc.4179C>G (p.His1393Gln)
c.159C>G (p.His53Gln)
c.4176C>G (p.His1392Gln)
n.6499C>G
n.5488C>G
 dbSNP
12g.49048022G=CA2034958242KMT2Dc.4179C= (p.His1393=)
c.159C= (p.His53=)
c.4176C= (p.His1392=)
n.6499C=
n.5488C=
12g.49048022G>TCA384649496KMT2Dc.4179C>A (p.His1393Gln)
c.159C>A (p.His53Gln)
c.4176C>A (p.His1392Gln)
n.6499C>A
n.5488C>A
12g.49048023T>ACA384649499KMT2Dc.4178A>T (p.His1393Leu)
c.158A>T (p.His53Leu)
c.4175A>T (p.His1392Leu)
n.6498A>T
n.5487A>T
12g.49048023T>CCA384649501KMT2Dc.4178A>G (p.His1393Arg)
c.158A>G (p.His53Arg)
c.4175A>G (p.His1392Arg)
n.6498A>G
n.5487A>G
12g.49048023T>GCA384649505KMT2Dc.4178A>C (p.His1393Pro)
c.158A>C (p.His53Pro)
c.4175A>C (p.His1392Pro)
n.6498A>C
n.5487A>C
 dbSNP
12g.49048023T=CA2034958250KMT2Dc.4178A= (p.His1393=)
c.158A= (p.His53=)
c.4175A= (p.His1392=)
n.6498A=
n.5487A=
12g.49048024G>ACA384649508KMT2Dc.4177C>T (p.His1393Tyr)
c.157C>T (p.His53Tyr)
c.4174C>T (p.His1392Tyr)
n.6497C>T
n.5486C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49048024G>CCA384649509KMT2Dc.4177C>G (p.His1393Asp)
c.157C>G (p.His53Asp)
c.4174C>G (p.His1392Asp)
n.6497C>G
n.5486C>G
 dbSNP
12g.49048024G=CA2034958253KMT2Dc.4177C= (p.His1393=)
c.157C= (p.His53=)
c.4174C= (p.His1392=)
n.6497C=
n.5486C=
12g.49048024G>TCA384649510KMT2Dc.4177C>A (p.His1393Asn)
c.157C>A (p.His53Asn)
c.4174C>A (p.His1392Asn)
n.6497C>A
n.5486C>A
 dbSNP
12g.49048025G>ACA479514411KMT2Dc.4176C>T (p.Gly1392=)
c.156C>T (p.Gly52=)
c.4173C>T (p.Gly1391=)
n.6496C>T
n.5485C>T
 dbSNP gnomAD v4
12g.49048025G>CCA479514413KMT2Dc.4176C>G (p.Gly1392=)
c.156C>G (p.Gly52=)
c.4173C>G (p.Gly1391=)
n.6496C>G
n.5485C>G
 dbSNP
12g.49048025G>TCA479514415KMT2Dc.4176C>A (p.Gly1392=)
c.156C>A (p.Gly52=)
c.4173C>A (p.Gly1391=)
n.6496C>A
n.5485C>A
 dbSNP
12g.49048026C>ACA384649512KMT2Dc.4175G>T (p.Gly1392Val)
c.155G>T (p.Gly52Val)
c.4172G>T (p.Gly1391Val)
n.6495G>T
n.5484G>T
 dbSNP
12g.49048026C>GCA384649521KMT2Dc.4175G>C (p.Gly1392Ala)
c.155G>C (p.Gly52Ala)
c.4172G>C (p.Gly1391Ala)
n.6495G>C
n.5484G>C
 dbSNP
12g.49048026C>TCA384649515KMT2Dc.4175G>A (p.Gly1392Asp)
c.155G>A (p.Gly52Asp)
c.4172G>A (p.Gly1391Asp)
n.6495G>A
n.5484G>A
 dbSNP gnomAD v4
12g.49048027C>ACA384649527KMT2Dc.4174G>T (p.Gly1392Cys)
c.154G>T (p.Gly52Cys)
c.4171G>T (p.Gly1391Cys)
n.6494G>T
n.5483G>T
12g.49048027C>GCA384649530KMT2Dc.4174G>C (p.Gly1392Arg)
c.154G>C (p.Gly52Arg)
c.4171G>C (p.Gly1391Arg)
n.6494G>C
n.5483G>C
 dbSNP
12g.49048027C>TCA384649535KMT2Dc.4174G>A (p.Gly1392Ser)
c.154G>A (p.Gly52Ser)
c.4171G>A (p.Gly1391Ser)
n.6494G>A
n.5483G>A
 dbSNP
12g.49048028C>ACA384649538KMT2Dc.4173G>T (p.Glu1391Asp)
c.153G>T (p.Glu51Asp)
c.4170G>T (p.Glu1390Asp)
n.6493G>T
n.5482G>T
 dbSNP
12g.49048028C>GCA384649541KMT2Dc.4173G>C (p.Glu1391Asp)
c.153G>C (p.Glu51Asp)
c.4170G>C (p.Glu1390Asp)
n.6493G>C
n.5482G>C
 dbSNP
12g.49048028C>TCA479514418KMT2Dc.4173G>A (p.Glu1391=)
c.153G>A (p.Glu51=)
c.4170G>A (p.Glu1390=)
n.6493G>A
n.5482G>A
12g.49048029T>ACA384649542KMT2Dc.4172A>T (p.Glu1391Val)
c.152A>T (p.Glu51Val)
c.4169A>T (p.Glu1390Val)
n.6492A>T
n.5481A>T
 dbSNP
12g.49048029T>CCA384649543KMT2Dc.4172A>G (p.Glu1391Gly)
c.152A>G (p.Glu51Gly)
c.4169A>G (p.Glu1390Gly)
n.6492A>G
n.5481A>G
 dbSNP gnomAD v4
12g.49048029T>GCA384649546KMT2Dc.4172A>C (p.Glu1391Ala)
c.152A>C (p.Glu51Ala)
c.4169A>C (p.Glu1390Ala)
n.6492A>C
n.5481A>C
 dbSNP
12g.49048030C>ACA384649549KMT2Dc.4171G>T (p.Glu1391Ter)
c.151G>T (p.Glu51Ter)
c.4168G>T (p.Glu1390Ter)
n.6491G>T
n.5480G>T
12g.49048030C=CA2034958256KMT2Dc.4171G= (p.Glu1391=)
c.151G= (p.Glu51=)
c.4168G= (p.Glu1390=)
n.6491G=
n.5480G=
12g.49048030C>GCA384649554KMT2Dc.4171G>C (p.Glu1391Gln)
c.151G>C (p.Glu51Gln)
c.4168G>C (p.Glu1390Gln)
n.6491G>C
n.5480G>C
 dbSNP
12g.49048030C>TCA384649556KMT2Dc.4171G>A (p.Glu1391Lys)
c.151G>A (p.Glu51Lys)
c.4168G>A (p.Glu1390Lys)
n.6491G>A
n.5480G>A
 ClinVar dbSNP
12g.49048031T>ACA479514419KMT2Dc.4170A>T (p.Ala1390=)
c.150A>T (p.Ala50=)
c.4167A>T (p.Ala1389=)
n.6490A>T
n.5479A>T
 dbSNP
12g.49048031T>CCA479514420KMT2Dc.4170A>G (p.Ala1390=)
c.150A>G (p.Ala50=)
c.4167A>G (p.Ala1389=)
n.6490A>G
n.5479A>G
 dbSNP
12g.49048031T>GCA479514422KMT2Dc.4170A>C (p.Ala1390=)
c.150A>C (p.Ala50=)
c.4167A>C (p.Ala1389=)
n.6490A>C
n.5479A>C
12g.49048032G>ACA384649564KMT2Dc.4169C>T (p.Ala1390Val)
c.149C>T (p.Ala50Val)
c.4166C>T (p.Ala1389Val)
n.6489C>T
n.5478C>T
12g.49048032G>CCA384649582KMT2Dc.4169C>G (p.Ala1390Gly)
c.149C>G (p.Ala50Gly)
c.4166C>G (p.Ala1389Gly)
n.6489C>G
n.5478C>G
12g.49048032G>TCA384649570KMT2Dc.4169C>A (p.Ala1390Glu)
c.149C>A (p.Ala50Glu)
c.4166C>A (p.Ala1389Glu)
n.6489C>A
n.5478C>A
12g.49048032_49048033delinsACA2695216498KMT2Dc.4168_4169delinsT (p.Ala1390Ter)
c.148_149delinsT (p.Ala50Ter)
c.4165_4166delinsT (p.Ala1389Ter)
n.6488_6489delinsT
n.5477_5478delinsT
12g.49048032_49048033delinsGCCA2034958261KMT2Dc.4168_4169delinsGC (p.Ala1390=)
c.148_149delinsGC (p.Ala50=)
c.4165_4166delinsGC (p.Ala1389=)
n.6488_6489delinsGC
n.5477_5478delinsGC
12g.49048033C>ACA384649600KMT2Dc.4168G>T (p.Ala1390Ser)
c.148G>T (p.Ala50Ser)
c.4165G>T (p.Ala1389Ser)
n.6488G>T
n.5477G>T
12g.49048033C>GCA384649604KMT2Dc.4168G>C (p.Ala1390Pro)
c.148G>C (p.Ala50Pro)
c.4165G>C (p.Ala1389Pro)
n.6488G>C
n.5477G>C
 dbSNP
12g.49048033C>TCA384649591KMT2Dc.4168G>A (p.Ala1390Thr)
c.148G>A (p.Ala50Thr)
c.4165G>A (p.Ala1389Thr)
n.6488G>A
n.5477G>A
 dbSNP gnomAD v4
12g.49048038dupCA275008KMT2Dc.4168dup (p.Ala1390GlyfsTer?)
c.148dup (p.Ala50GlyfsTer?)
c.4165dup (p.Ala1389GlyfsTer?)
n.6488dup
n.5477dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048035_49048038dupCA2795893217KMT2Dc.4165_4168dup (p.Ala1390GlyfsTer?)
c.145_148dup (p.Ala50GlyfsTer?)
c.4162_4165dup (p.Ala1389GlyfsTer?)
n.6485_6488dup
n.5474_5477dup
12g.49048038delCA604885594KMT2Dc.4168del (p.Ala1390GlnfsTer27)
c.148del (p.Ala50GlnfsTer27)
c.4165del (p.Ala1389GlnfsTer27)
n.6488del
n.5477del
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49048034C>ACA479514427KMT2Dc.4167G>T (p.Gly1389=)
c.147G>T (p.Gly49=)
c.4164G>T (p.Gly1388=)
n.6487G>T
n.5476G>T
 dbSNP
12g.49048034C=CA2034958271KMT2Dc.4167G= (p.Gly1389=)
c.147G= (p.Gly49=)
c.4164G= (p.Gly1388=)
n.6487G=
n.5476G=
12g.49048034C>GCA479514425KMT2Dc.4167G>C (p.Gly1389=)
c.147G>C (p.Gly49=)
c.4164G>C (p.Gly1388=)
n.6487G>C
n.5476G>C
 dbSNP
12g.49048034C>TCA479514426KMT2Dc.4167G>A (p.Gly1389=)
c.147G>A (p.Gly49=)
c.4164G>A (p.Gly1388=)
n.6487G>A
n.5476G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49048035C>ACA384649609KMT2Dc.4166G>T (p.Gly1389Val)
c.146G>T (p.Gly49Val)
c.4163G>T (p.Gly1388Val)
n.6486G>T
n.5475G>T
 dbSNP
12g.49048035C>GCA384649612KMT2Dc.4166G>C (p.Gly1389Ala)
c.146G>C (p.Gly49Ala)
c.4163G>C (p.Gly1388Ala)
n.6486G>C
n.5475G>C
 dbSNP gnomAD v4
12g.49048035C>TCA384649614KMT2Dc.4166G>A (p.Gly1389Glu)
c.146G>A (p.Gly49Glu)
c.4163G>A (p.Gly1388Glu)
n.6486G>A
n.5475G>A
 gnomAD v4
12g.49048036C>ACA6547877KMT2Dc.4165G>T (p.Gly1389Trp)
c.145G>T (p.Gly49Trp)
c.4162G>T (p.Gly1388Trp)
n.6485G>T
n.5474G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048036C=CA2034958275KMT2Dc.4165G= (p.Gly1389=)
c.145G= (p.Gly49=)
c.4162G= (p.Gly1388=)
n.6485G=
n.5474G=
12g.49048036C>GCA384649617KMT2Dc.4165G>C (p.Gly1389Arg)
c.145G>C (p.Gly49Arg)
c.4162G>C (p.Gly1388Arg)
n.6485G>C
n.5474G>C
 dbSNP
12g.49048036C>TCA384649619KMT2Dc.4165G>A (p.Gly1389Arg)
c.145G>A (p.Gly49Arg)
c.4162G>A (p.Gly1388Arg)
n.6485G>A
n.5474G>A
 dbSNP
12g.49048037C>ACA479514431KMT2Dc.4164G>T (p.Arg1388=)
c.144G>T (p.Arg48=)
c.4161G>T (p.Arg1387=)
n.6484G>T
n.5473G>T
 dbSNP
12g.49048037C>GCA479514432KMT2Dc.4164G>C (p.Arg1388=)
c.144G>C (p.Arg48=)
c.4161G>C (p.Arg1387=)
n.6484G>C
n.5473G>C
 dbSNP
12g.49048037C>TCA479514433KMT2Dc.4164G>A (p.Arg1388=)
c.144G>A (p.Arg48=)
c.4161G>A (p.Arg1387=)
n.6484G>A
n.5473G>A
 dbSNP gnomAD v4
12g.49048038C>ACA6547878KMT2Dc.4163G>T (p.Arg1388Leu)
c.143G>T (p.Arg48Leu)
c.4160G>T (p.Arg1387Leu)
n.6483G>T
n.5472G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49048038C=CA2034958281KMT2Dc.4163G= (p.Arg1388=)
c.143G= (p.Arg48=)
c.4160G= (p.Arg1387=)
n.6483G=
n.5472G=
12g.49048038C>GCA384649620KMT2Dc.4163G>C (p.Arg1388Pro)
c.143G>C (p.Arg48Pro)
c.4160G>C (p.Arg1387Pro)
n.6483G>C
n.5472G>C
 dbSNP
12g.49048038C>TCA6547879KMT2Dc.4163G>A (p.Arg1388Gln)
c.143G>A (p.Arg48Gln)
c.4160G>A (p.Arg1387Gln)
n.6483G>A
n.5472G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49048038_49048039insCGCA2695216500KMT2Dc.4162_4163insCG (p.Arg1388ProfsTer30)
c.142_143insCG (p.Arg48ProfsTer30)
c.4159_4160insCG (p.Arg1387ProfsTer30)
n.6482_6483insCG
n.5471_5472insCG
12g.49048039G>ACA236615325KMT2Dc.4162C>T (p.Arg1388Trp)
c.142C>T (p.Arg48Trp)
c.4159C>T (p.Arg1387Trp)
n.6482C>T
n.5471C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49048039G>CCA384649623KMT2Dc.4162C>G (p.Arg1388Gly)
c.142C>G (p.Arg48Gly)
c.4159C>G (p.Arg1387Gly)
n.6482C>G
n.5471C>G
 dbSNP gnomAD v4
12g.49048039G=CA2034958286KMT2Dc.4162C= (p.Arg1388=)
c.142C= (p.Arg48=)
c.4159C= (p.Arg1387=)
n.6482C=
n.5471C=
12g.49048039G>TCA479514435KMT2Dc.4162C>A (p.Arg1388=)
c.142C>A (p.Arg48=)
c.4159C>A (p.Arg1387=)
n.6482C>A
n.5471C>A

Number of alleles fetched