Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35733010C>A | CA405428646 | KMT2B | n.767C>A c.6395C>A (p.Ala2132Asp) c.4002C>A (n.4002C>A) c.1679C>A (p.Ala560Asp) n.1614C>A c.1682C>A (p.Ala561Asp) c.6003C>A c.6461C>A (p.Ala2154Asp) c.705-587C>A (n.705-587C>A) c.3783C>A c.6185C>A (p.Ala2062Asp) c.5897C>A (p.Ala1966Asp) c.3425C>A (p.Ala1142Asp) | gnomAD v4 |
19 | g.35733010C>G | CA405428649 | KMT2B | n.767C>G c.6395C>G (p.Ala2132Gly) c.4002C>G (n.4002C>G) c.1679C>G (p.Ala560Gly) n.1614C>G c.1682C>G (p.Ala561Gly) c.6003C>G c.6461C>G (p.Ala2154Gly) c.705-587C>G (n.705-587C>G) c.3783C>G c.6185C>G (p.Ala2062Gly) c.5897C>G (p.Ala1966Gly) c.3425C>G (p.Ala1142Gly) | |
19 | g.35733010C>T | CA405428652 | KMT2B | n.767C>T c.6395C>T (p.Ala2132Val) c.4002C>T (n.4002C>T) c.1679C>T (p.Ala560Val) n.1614C>T c.1682C>T (p.Ala561Val) c.6003C>T c.6461C>T (p.Ala2154Val) c.705-587C>T (n.705-587C>T) c.3783C>T c.6185C>T (p.Ala2062Val) c.5897C>T (p.Ala1966Val) c.3425C>T (p.Ala1142Val) | gnomAD v4 |
19 | g.35733011C>A | CA507309048 | KMT2B | n.768C>A c.6396C>A (p.Ala2132=) c.4003C>A (n.4003C>A) c.1680C>A (p.Ala560=) n.1615C>A c.1683C>A (p.Ala561=) c.6004C>A c.6462C>A (p.Ala2154=) c.705-586C>A (n.705-586C>A) c.3784C>A c.6186C>A (p.Ala2062=) c.5898C>A (p.Ala1966=) c.3426C>A (p.Ala1142=) | |
19 | g.35733011C= | CA2333794608 | KMT2B | n.768C= c.6396C= (p.Ala2132=) c.4003C= (n.4003C=) c.1680C= (p.Ala560=) n.1615C= c.1683C= (p.Ala561=) c.6004C= c.6462C= (p.Ala2154=) c.705-586C= (n.705-586C=) c.3784C= c.6186C= (p.Ala2062=) c.5898C= (p.Ala1966=) c.3426C= (p.Ala1142=) | |
19 | g.35733011C>G | CA507309049 | KMT2B | n.768C>G c.6396C>G (p.Ala2132=) c.4003C>G (n.4003C>G) c.1680C>G (p.Ala560=) n.1615C>G c.1683C>G (p.Ala561=) c.6004C>G c.6462C>G (p.Ala2154=) c.705-586C>G (n.705-586C>G) c.3784C>G c.6186C>G (p.Ala2062=) c.5898C>G (p.Ala1966=) c.3426C>G (p.Ala1142=) | |
19 | g.35733011C>T | CA507309050 | KMT2B | n.768C>T c.6396C>T (p.Ala2132=) c.4003C>T (n.4003C>T) c.1680C>T (p.Ala560=) n.1615C>T c.1683C>T (p.Ala561=) c.6004C>T c.6462C>T (p.Ala2154=) c.705-586C>T (n.705-586C>T) c.3784C>T c.6186C>T (p.Ala2062=) c.5898C>T (p.Ala1966=) c.3426C>T (p.Ala1142=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733012A>C | CA405428653 | KMT2B | n.769A>C c.6397A>C (p.Ser2133Arg) c.4004A>C (n.4004A>C) c.1681A>C (p.Ser561Arg) n.1616A>C c.1684A>C (p.Ser562Arg) c.6005A>C c.6463A>C (p.Ser2155Arg) c.705-585A>C (n.705-585A>C) c.3785A>C c.6187A>C (p.Ser2063Arg) c.5899A>C (p.Ser1967Arg) c.3427A>C (p.Ser1143Arg) | |
19 | g.35733012A>G | CA405428655 | KMT2B | n.769A>G c.6397A>G (p.Ser2133Gly) c.4004A>G (n.4004A>G) c.1681A>G (p.Ser561Gly) n.1616A>G c.1684A>G (p.Ser562Gly) c.6005A>G c.6463A>G (p.Ser2155Gly) c.705-585A>G (n.705-585A>G) c.3785A>G c.6187A>G (p.Ser2063Gly) c.5899A>G (p.Ser1967Gly) c.3427A>G (p.Ser1143Gly) | |
19 | g.35733012A>T | CA405428658 | KMT2B | n.769A>T c.6397A>T (p.Ser2133Cys) c.4004A>T (n.4004A>T) c.1681A>T (p.Ser561Cys) n.1616A>T c.1684A>T (p.Ser562Cys) c.6005A>T c.6463A>T (p.Ser2155Cys) c.705-585A>T (n.705-585A>T) c.3785A>T c.6187A>T (p.Ser2063Cys) c.5899A>T (p.Ser1967Cys) c.3427A>T (p.Ser1143Cys) | |
19 | g.35733013G>A | CA405428661 | KMT2B | n.770G>A c.6398G>A (p.Ser2133Asn) c.4005G>A (n.4005G>A) c.1682G>A (p.Ser561Asn) n.1617G>A c.1685G>A (p.Ser562Asn) c.6006G>A c.6464G>A (p.Ser2155Asn) c.705-584G>A (n.705-584G>A) c.3786G>A c.6188G>A (p.Ser2063Asn) c.5900G>A (p.Ser1967Asn) c.3428G>A (p.Ser1143Asn) | |
19 | g.35733013G>C | CA405428663 | KMT2B | n.770G>C c.6398G>C (p.Ser2133Thr) c.4005G>C (n.4005G>C) c.1682G>C (p.Ser561Thr) n.1617G>C c.1685G>C (p.Ser562Thr) c.6006G>C c.6464G>C (p.Ser2155Thr) c.705-584G>C (n.705-584G>C) c.3786G>C c.6188G>C (p.Ser2063Thr) c.5900G>C (p.Ser1967Thr) c.3428G>C (p.Ser1143Thr) | |
19 | g.35733013G>T | CA405428662 | KMT2B | n.770G>T c.6398G>T (p.Ser2133Ile) c.4005G>T (n.4005G>T) c.1682G>T (p.Ser561Ile) n.1617G>T c.1685G>T (p.Ser562Ile) c.6006G>T c.6464G>T (p.Ser2155Ile) c.705-584G>T (n.705-584G>T) c.3786G>T c.6188G>T (p.Ser2063Ile) c.5900G>T (p.Ser1967Ile) c.3428G>T (p.Ser1143Ile) | gnomAD v4 |
19 | g.35733014C>A | CA405428664 | KMT2B | n.771C>A c.6399C>A (p.Ser2133Arg) c.4006C>A (n.4006C>A) c.1683C>A (p.Ser561Arg) n.1618C>A c.1686C>A (p.Ser562Arg) c.6007C>A c.6465C>A (p.Ser2155Arg) c.705-583C>A (n.705-583C>A) c.3787C>A c.6189C>A (p.Ser2063Arg) c.5901C>A (p.Ser1967Arg) c.3429C>A (p.Ser1143Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733014C= | CA2333794609 | KMT2B | n.771C= c.6399C= (p.Ser2133=) c.4006C= (n.4006C=) c.1683C= (p.Ser561=) n.1618C= c.1686C= (p.Ser562=) c.6007C= c.6465C= (p.Ser2155=) c.705-583C= (n.705-583C=) c.3787C= c.6189C= (p.Ser2063=) c.5901C= (p.Ser1967=) c.3429C= (p.Ser1143=) | |
19 | g.35733014C>G | CA405428665 | KMT2B | n.771C>G c.6399C>G (p.Ser2133Arg) c.4006C>G (n.4006C>G) c.1683C>G (p.Ser561Arg) n.1618C>G c.1686C>G (p.Ser562Arg) c.6007C>G c.6465C>G (p.Ser2155Arg) c.705-583C>G (n.705-583C>G) c.3787C>G c.6189C>G (p.Ser2063Arg) c.5901C>G (p.Ser1967Arg) c.3429C>G (p.Ser1143Arg) | gnomAD v4 |
19 | g.35733014C>T | CA507309057 | KMT2B | n.771C>T c.6399C>T (p.Ser2133=) c.4006C>T (n.4006C>T) c.1683C>T (p.Ser561=) n.1618C>T c.1686C>T (p.Ser562=) c.6007C>T c.6465C>T (p.Ser2155=) c.705-583C>T (n.705-583C>T) c.3787C>T c.6189C>T (p.Ser2063=) c.5901C>T (p.Ser1967=) c.3429C>T (p.Ser1143=) | |
19 | g.35733015C>A | CA405428670 | KMT2B | n.772C>A c.6400C>A (p.Pro2134Thr) c.4007C>A (n.4007C>A) c.1684C>A (p.Pro562Thr) n.1619C>A c.1687C>A (p.Pro563Thr) c.6008C>A c.6466C>A (p.Pro2156Thr) c.705-582C>A (n.705-582C>A) c.3788C>A c.6190C>A (p.Pro2064Thr) c.5902C>A (p.Pro1968Thr) c.3430C>A (p.Pro1144Thr) | gnomAD v4 |
19 | g.35733015C= | CA2333794610 | KMT2B | n.772C= c.6400C= (p.Pro2134=) c.4007C= (n.4007C=) c.1684C= (p.Pro562=) n.1619C= c.1687C= (p.Pro563=) c.6008C= c.6466C= (p.Pro2156=) c.705-582C= (n.705-582C=) c.3788C= c.6190C= (p.Pro2064=) c.5902C= (p.Pro1968=) c.3430C= (p.Pro1144=) | |
19 | g.35733015C>G | CA405428671 | KMT2B | n.772C>G c.6400C>G (p.Pro2134Ala) c.4007C>G (n.4007C>G) c.1684C>G (p.Pro562Ala) n.1619C>G c.1687C>G (p.Pro563Ala) c.6008C>G c.6466C>G (p.Pro2156Ala) c.705-582C>G (n.705-582C>G) c.3788C>G c.6190C>G (p.Pro2064Ala) c.5902C>G (p.Pro1968Ala) c.3430C>G (p.Pro1144Ala) | |
19 | g.35733015C>T | CA405428673 | KMT2B | n.772C>T c.6400C>T (p.Pro2134Ser) c.4007C>T (n.4007C>T) c.1684C>T (p.Pro562Ser) n.1619C>T c.1687C>T (p.Pro563Ser) c.6008C>T c.6466C>T (p.Pro2156Ser) c.705-582C>T (n.705-582C>T) c.3788C>T c.6190C>T (p.Pro2064Ser) c.5902C>T (p.Pro1968Ser) c.3430C>T (p.Pro1144Ser) | dbSNP |
19 | g.35733016C>A | CA405428677 | KMT2B | n.773C>A c.6401C>A (p.Pro2134Gln) c.4008C>A (n.4008C>A) c.1685C>A (p.Pro562Gln) n.1620C>A c.1688C>A (p.Pro563Gln) c.6009C>A c.6467C>A (p.Pro2156Gln) c.705-581C>A (n.705-581C>A) c.3789C>A c.6191C>A (p.Pro2064Gln) c.5903C>A (p.Pro1968Gln) c.3431C>A (p.Pro1144Gln) | gnomAD v4 |
19 | g.35733016C>G | CA405428680 | KMT2B | n.773C>G c.6401C>G (p.Pro2134Arg) c.4008C>G (n.4008C>G) c.1685C>G (p.Pro562Arg) n.1620C>G c.1688C>G (p.Pro563Arg) c.6009C>G c.6467C>G (p.Pro2156Arg) c.705-581C>G (n.705-581C>G) c.3789C>G c.6191C>G (p.Pro2064Arg) c.5903C>G (p.Pro1968Arg) c.3431C>G (p.Pro1144Arg) | ClinVar |
19 | g.35733016C>T | CA405428682 | KMT2B | n.773C>T c.6401C>T (p.Pro2134Leu) c.4008C>T (n.4008C>T) c.1685C>T (p.Pro562Leu) n.1620C>T c.1688C>T (p.Pro563Leu) c.6009C>T c.6467C>T (p.Pro2156Leu) c.705-581C>T (n.705-581C>T) c.3789C>T c.6191C>T (p.Pro2064Leu) c.5903C>T (p.Pro1968Leu) c.3431C>T (p.Pro1144Leu) | |
19 | g.35733017A>C | CA507309061 | KMT2B | n.774A>C c.6402A>C (p.Pro2134=) c.4009A>C (n.4009A>C) c.1686A>C (p.Pro562=) n.1621A>C c.1689A>C (p.Pro563=) c.6010A>C c.6468A>C (p.Pro2156=) c.705-580A>C (n.705-580A>C) c.3790A>C c.6192A>C (p.Pro2064=) c.5904A>C (p.Pro1968=) c.3432A>C (p.Pro1144=) | |
19 | g.35733017A>G | CA507309062 | KMT2B | n.774A>G c.6402A>G (p.Pro2134=) c.4009A>G (n.4009A>G) c.1686A>G (p.Pro562=) n.1621A>G c.1689A>G (p.Pro563=) c.6010A>G c.6468A>G (p.Pro2156=) c.705-580A>G (n.705-580A>G) c.3790A>G c.6192A>G (p.Pro2064=) c.5904A>G (p.Pro1968=) c.3432A>G (p.Pro1144=) | |
19 | g.35733017A>T | CA507309063 | KMT2B | n.774A>T c.6402A>T (p.Pro2134=) c.4009A>T (n.4009A>T) c.1686A>T (p.Pro562=) n.1621A>T c.1689A>T (p.Pro563=) c.6010A>T c.6468A>T (p.Pro2156=) c.705-580A>T (n.705-580A>T) c.3790A>T c.6192A>T (p.Pro2064=) c.5904A>T (p.Pro1968=) c.3432A>T (p.Pro1144=) | |
19 | g.35733018G>A | CA405428688 | KMT2B | n.775G>A c.6403G>A (p.Ala2135Thr) c.4010G>A (n.4010G>A) c.1687G>A (p.Ala563Thr) n.1622G>A c.1690G>A (p.Ala564Thr) c.6011G>A c.6469G>A (p.Ala2157Thr) c.705-579G>A (n.705-579G>A) c.3791G>A c.6193G>A (p.Ala2065Thr) c.5905G>A (p.Ala1969Thr) c.3433G>A (p.Ala1145Thr) | gnomAD v4 |
19 | g.35733018G>C | CA405428691 | KMT2B | n.775G>C c.6403G>C (p.Ala2135Pro) c.4010G>C (n.4010G>C) c.1687G>C (p.Ala563Pro) n.1622G>C c.1690G>C (p.Ala564Pro) c.6011G>C c.6469G>C (p.Ala2157Pro) c.705-579G>C (n.705-579G>C) c.3791G>C c.6193G>C (p.Ala2065Pro) c.5905G>C (p.Ala1969Pro) c.3433G>C (p.Ala1145Pro) | gnomAD v4 |
19 | g.35733018G>T | CA405428694 | KMT2B | n.775G>T c.6403G>T (p.Ala2135Ser) c.4010G>T (n.4010G>T) c.1687G>T (p.Ala563Ser) n.1622G>T c.1690G>T (p.Ala564Ser) c.6011G>T c.6469G>T (p.Ala2157Ser) c.705-579G>T (n.705-579G>T) c.3791G>T c.6193G>T (p.Ala2065Ser) c.5905G>T (p.Ala1969Ser) c.3433G>T (p.Ala1145Ser) | |
19 | g.35733019C>A | CA405428702 | KMT2B | n.776C>A c.6404C>A (p.Ala2135Asp) c.4011C>A (n.4011C>A) c.1688C>A (p.Ala563Asp) n.1623C>A c.1691C>A (p.Ala564Asp) c.6012C>A c.6470C>A (p.Ala2157Asp) c.705-578C>A (n.705-578C>A) c.3792C>A c.6194C>A (p.Ala2065Asp) c.5906C>A (p.Ala1969Asp) c.3434C>A (p.Ala1145Asp) | gnomAD v4 |
19 | g.35733019C= | CA2333794611 | KMT2B | n.776C= c.6404C= (p.Ala2135=) c.4011C= (n.4011C=) c.1688C= (p.Ala563=) n.1623C= c.1691C= (p.Ala564=) c.6012C= c.6470C= (p.Ala2157=) c.705-578C= (n.705-578C=) c.3792C= c.6194C= (p.Ala2065=) c.5906C= (p.Ala1969=) c.3434C= (p.Ala1145=) | |
19 | g.35733019C>G | CA405428701 | KMT2B | n.776C>G c.6404C>G (p.Ala2135Gly) c.4011C>G (n.4011C>G) c.1688C>G (p.Ala563Gly) n.1623C>G c.1691C>G (p.Ala564Gly) c.6012C>G c.6470C>G (p.Ala2157Gly) c.705-578C>G (n.705-578C>G) c.3792C>G c.6194C>G (p.Ala2065Gly) c.5906C>G (p.Ala1969Gly) c.3434C>G (p.Ala1145Gly) | dbSNP |
19 | g.35733019C>T | CA405428698 | KMT2B | n.776C>T c.6404C>T (p.Ala2135Val) c.4011C>T (n.4011C>T) c.1688C>T (p.Ala563Val) n.1623C>T c.1691C>T (p.Ala564Val) c.6012C>T c.6470C>T (p.Ala2157Val) c.705-578C>T (n.705-578C>T) c.3792C>T c.6194C>T (p.Ala2065Val) c.5906C>T (p.Ala1969Val) c.3434C>T (p.Ala1145Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733020T>A | CA507309069 | KMT2B | n.777T>A c.6405T>A (p.Ala2135=) c.4012T>A (n.4012T>A) c.1689T>A (p.Ala563=) n.1624T>A c.1692T>A (p.Ala564=) c.6013T>A c.6471T>A (p.Ala2157=) c.705-577T>A (n.705-577T>A) c.3793T>A c.6195T>A (p.Ala2065=) c.5907T>A (p.Ala1969=) c.3435T>A (p.Ala1145=) | |
19 | g.35733020T>C | CA507309071 | KMT2B | n.777T>C c.6405T>C (p.Ala2135=) c.4012T>C (n.4012T>C) c.1689T>C (p.Ala563=) n.1624T>C c.1692T>C (p.Ala564=) c.6013T>C c.6471T>C (p.Ala2157=) c.705-577T>C (n.705-577T>C) c.3793T>C c.6195T>C (p.Ala2065=) c.5907T>C (p.Ala1969=) c.3435T>C (p.Ala1145=) | dbSNP gnomAD v2 |
19 | g.35733020T>G | CA507309072 | KMT2B | n.777T>G c.6405T>G (p.Ala2135=) c.4012T>G (n.4012T>G) c.1689T>G (p.Ala563=) n.1624T>G c.1692T>G (p.Ala564=) c.6013T>G c.6471T>G (p.Ala2157=) c.705-577T>G (n.705-577T>G) c.3793T>G c.6195T>G (p.Ala2065=) c.5907T>G (p.Ala1969=) c.3435T>G (p.Ala1145=) | |
19 | g.35733020T= | CA2333794612 | KMT2B | n.777T= c.6405T= (p.Ala2135=) c.4012T= (n.4012T=) c.1689T= (p.Ala563=) n.1624T= c.1692T= (p.Ala564=) c.6013T= c.6471T= (p.Ala2157=) c.705-577T= (n.705-577T=) c.3793T= c.6195T= (p.Ala2065=) c.5907T= (p.Ala1969=) c.3435T= (p.Ala1145=) | |
19 | g.35733021G>A | CA405428709 | KMT2B | n.778G>A c.6406G>A (p.Asp2136Asn) c.4013G>A (n.4013G>A) c.1690G>A (p.Asp564Asn) n.1625G>A c.1693G>A (p.Asp565Asn) c.6014G>A c.6472G>A (p.Asp2158Asn) c.705-576G>A (n.705-576G>A) c.3794G>A c.6196G>A (p.Asp2066Asn) c.5908G>A (p.Asp1970Asn) c.3436G>A (p.Asp1146Asn) | |
19 | g.35733021G>C | CA405428706 | KMT2B | n.778G>C c.6406G>C (p.Asp2136His) c.4013G>C (n.4013G>C) c.1690G>C (p.Asp564His) n.1625G>C c.1693G>C (p.Asp565His) c.6014G>C c.6472G>C (p.Asp2158His) c.705-576G>C (n.705-576G>C) c.3794G>C c.6196G>C (p.Asp2066His) c.5908G>C (p.Asp1970His) c.3436G>C (p.Asp1146His) | |
19 | g.35733021G>T | CA405428712 | KMT2B | n.778G>T c.6406G>T (p.Asp2136Tyr) c.4013G>T (n.4013G>T) c.1690G>T (p.Asp564Tyr) n.1625G>T c.1693G>T (p.Asp565Tyr) c.6014G>T c.6472G>T (p.Asp2158Tyr) c.705-576G>T (n.705-576G>T) c.3794G>T c.6196G>T (p.Asp2066Tyr) c.5908G>T (p.Asp1970Tyr) c.3436G>T (p.Asp1146Tyr) | gnomAD v4 |
19 | g.35733022A>C | CA405428717 | KMT2B | n.779A>C c.6407A>C (p.Asp2136Ala) c.4014A>C (n.4014A>C) c.1691A>C (p.Asp564Ala) n.1626A>C c.1694A>C (p.Asp565Ala) c.6015A>C c.6473A>C (p.Asp2158Ala) c.705-575A>C (n.705-575A>C) c.3795A>C c.6197A>C (p.Asp2066Ala) c.5909A>C (p.Asp1970Ala) c.3437A>C (p.Asp1146Ala) | |
19 | g.35733022A>G | CA405428722 | KMT2B | n.779A>G c.6407A>G (p.Asp2136Gly) c.4014A>G (n.4014A>G) c.1691A>G (p.Asp564Gly) n.1626A>G c.1694A>G (p.Asp565Gly) c.6015A>G c.6473A>G (p.Asp2158Gly) c.705-575A>G (n.705-575A>G) c.3795A>G c.6197A>G (p.Asp2066Gly) c.5909A>G (p.Asp1970Gly) c.3437A>G (p.Asp1146Gly) | gnomAD v4 |
19 | g.35733022A>T | CA405428719 | KMT2B | n.779A>T c.6407A>T (p.Asp2136Val) c.4014A>T (n.4014A>T) c.1691A>T (p.Asp564Val) n.1626A>T c.1694A>T (p.Asp565Val) c.6015A>T c.6473A>T (p.Asp2158Val) c.705-575A>T (n.705-575A>T) c.3795A>T c.6197A>T (p.Asp2066Val) c.5909A>T (p.Asp1970Val) c.3437A>T (p.Asp1146Val) | |
19 | g.35733023C>A | CA405428728 | KMT2B | n.780C>A c.6408C>A (p.Asp2136Glu) c.4015C>A (n.4015C>A) c.1692C>A (p.Asp564Glu) n.1627C>A c.1695C>A (p.Asp565Glu) c.6016C>A c.6474C>A (p.Asp2158Glu) c.705-574C>A (n.705-574C>A) c.3796C>A c.6198C>A (p.Asp2066Glu) c.5910C>A (p.Asp1970Glu) c.3438C>A (p.Asp1146Glu) | |
19 | g.35733023C= | CA2333794613 | KMT2B | n.780C= c.6408C= (p.Asp2136=) c.4015C= (n.4015C=) c.1692C= (p.Asp564=) n.1627C= c.1695C= (p.Asp565=) c.6016C= c.6474C= (p.Asp2158=) c.705-574C= (n.705-574C=) c.3796C= c.6198C= (p.Asp2066=) c.5910C= (p.Asp1970=) c.3438C= (p.Asp1146=) | |
19 | g.35733023C>G | CA405428731 | KMT2B | n.780C>G c.6408C>G (p.Asp2136Glu) c.4015C>G (n.4015C>G) c.1692C>G (p.Asp564Glu) n.1627C>G c.1695C>G (p.Asp565Glu) c.6016C>G c.6474C>G (p.Asp2158Glu) c.705-574C>G (n.705-574C>G) c.3796C>G c.6198C>G (p.Asp2066Glu) c.5910C>G (p.Asp1970Glu) c.3438C>G (p.Asp1146Glu) | |
19 | g.35733023C>T | CA9385694 | KMT2B | n.780C>T c.6408C>T (p.Asp2136=) c.4015C>T (n.4015C>T) c.1692C>T (p.Asp564=) n.1627C>T c.1695C>T (p.Asp565=) c.6016C>T c.6474C>T (p.Asp2158=) c.705-574C>T (n.705-574C>T) c.3796C>T c.6198C>T (p.Asp2066=) c.5910C>T (p.Asp1970=) c.3438C>T (p.Asp1146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733024C>A | CA405428734 | KMT2B | n.781C>A c.6409C>A (p.Pro2137Thr) c.4016C>A (n.4016C>A) c.1693C>A (p.Pro565Thr) n.1628C>A c.1696C>A (p.Pro566Thr) c.6017C>A c.6475C>A (p.Pro2159Thr) c.705-573C>A (n.705-573C>A) c.3797C>A c.6199C>A (p.Pro2067Thr) c.5911C>A (p.Pro1971Thr) c.3439C>A (p.Pro1147Thr) | |
19 | g.35733024C= | CA2333794614 | KMT2B | n.781C= c.6409C= (p.Pro2137=) c.4016C= (n.4016C=) c.1693C= (p.Pro565=) n.1628C= c.1696C= (p.Pro566=) c.6017C= c.6475C= (p.Pro2159=) c.705-573C= (n.705-573C=) c.3797C= c.6199C= (p.Pro2067=) c.5911C= (p.Pro1971=) c.3439C= (p.Pro1147=) | |
19 | g.35733024C>G | CA9385695 | KMT2B | n.781C>G c.6409C>G (p.Pro2137Ala) c.4016C>G (n.4016C>G) c.1693C>G (p.Pro565Ala) n.1628C>G c.1696C>G (p.Pro566Ala) c.6017C>G c.6475C>G (p.Pro2159Ala) c.705-573C>G (n.705-573C>G) c.3797C>G c.6199C>G (p.Pro2067Ala) c.5911C>G (p.Pro1971Ala) c.3439C>G (p.Pro1147Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733024C>T | CA405428737 | KMT2B | n.781C>T c.6409C>T (p.Pro2137Ser) c.4016C>T (n.4016C>T) c.1693C>T (p.Pro565Ser) n.1628C>T c.1696C>T (p.Pro566Ser) c.6017C>T c.6475C>T (p.Pro2159Ser) c.705-573C>T (n.705-573C>T) c.3797C>T c.6199C>T (p.Pro2067Ser) c.5911C>T (p.Pro1971Ser) c.3439C>T (p.Pro1147Ser) | dbSNP gnomAD v2 |
19 | g.35733025C>A | CA405428742 | KMT2B | n.782C>A c.6410C>A (p.Pro2137His) c.4017C>A (n.4017C>A) c.1694C>A (p.Pro565His) n.1629C>A c.1697C>A (p.Pro566His) c.6018C>A c.6476C>A (p.Pro2159His) c.705-572C>A (n.705-572C>A) c.3798C>A c.6200C>A (p.Pro2067His) c.5912C>A (p.Pro1971His) c.3440C>A (p.Pro1147His) | gnomAD v4 |
19 | g.35733025C>G | CA405428744 | KMT2B | n.782C>G c.6410C>G (p.Pro2137Arg) c.4017C>G (n.4017C>G) c.1694C>G (p.Pro565Arg) n.1629C>G c.1697C>G (p.Pro566Arg) c.6018C>G c.6476C>G (p.Pro2159Arg) c.705-572C>G (n.705-572C>G) c.3798C>G c.6200C>G (p.Pro2067Arg) c.5912C>G (p.Pro1971Arg) c.3440C>G (p.Pro1147Arg) | |
19 | g.35733025C>T | CA405428746 | KMT2B | n.782C>T c.6410C>T (p.Pro2137Leu) c.4017C>T (n.4017C>T) c.1694C>T (p.Pro565Leu) n.1629C>T c.1697C>T (p.Pro566Leu) c.6018C>T c.6476C>T (p.Pro2159Leu) c.705-572C>T (n.705-572C>T) c.3798C>T c.6200C>T (p.Pro2067Leu) c.5912C>T (p.Pro1971Leu) c.3440C>T (p.Pro1147Leu) | gnomAD v4 |
19 | g.35733026C>A | CA507309092 | KMT2B | n.783C>A c.6411C>A (p.Pro2137=) c.4018C>A (n.4018C>A) c.1695C>A (p.Pro565=) n.1630C>A c.1698C>A (p.Pro566=) c.6019C>A c.6477C>A (p.Pro2159=) c.705-571C>A (n.705-571C>A) c.3799C>A c.6201C>A (p.Pro2067=) c.5913C>A (p.Pro1971=) c.3441C>A (p.Pro1147=) | gnomAD v4 |
19 | g.35733026C= | CA2333794615 | KMT2B | n.783C= c.6411C= (p.Pro2137=) c.4018C= (n.4018C=) c.1695C= (p.Pro565=) n.1630C= c.1698C= (p.Pro566=) c.6019C= c.6477C= (p.Pro2159=) c.705-571C= (n.705-571C=) c.3799C= c.6201C= (p.Pro2067=) c.5913C= (p.Pro1971=) c.3441C= (p.Pro1147=) | |
19 | g.35733026C>G | CA507309093 | KMT2B | n.783C>G c.6411C>G (p.Pro2137=) c.4018C>G (n.4018C>G) c.1695C>G (p.Pro565=) n.1630C>G c.1698C>G (p.Pro566=) c.6019C>G c.6477C>G (p.Pro2159=) c.705-571C>G (n.705-571C>G) c.3799C>G c.6201C>G (p.Pro2067=) c.5913C>G (p.Pro1971=) c.3441C>G (p.Pro1147=) | |
19 | g.35733026C>T | CA9385696 | KMT2B | n.783C>T c.6411C>T (p.Pro2137=) c.4018C>T (n.4018C>T) c.1695C>T (p.Pro565=) n.1630C>T c.1698C>T (p.Pro566=) c.6019C>T c.6477C>T (p.Pro2159=) c.705-571C>T (n.705-571C>T) c.3799C>T c.6201C>T (p.Pro2067=) c.5913C>T (p.Pro1971=) c.3441C>T (p.Pro1147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733027A>C | CA405428750 | KMT2B | n.784A>C c.6412A>C (p.Thr2138Pro) c.4019A>C (n.4019A>C) c.1696A>C (p.Thr566Pro) n.1631A>C c.1699A>C (p.Thr567Pro) c.6020A>C c.6478A>C (p.Thr2160Pro) c.705-570A>C (n.705-570A>C) c.3800A>C c.6202A>C (p.Thr2068Pro) c.5914A>C (p.Thr1972Pro) c.3442A>C (p.Thr1148Pro) | |
19 | g.35733027A>G | CA405428753 | KMT2B | n.784A>G c.6412A>G (p.Thr2138Ala) c.4019A>G (n.4019A>G) c.1696A>G (p.Thr566Ala) n.1631A>G c.1699A>G (p.Thr567Ala) c.6020A>G c.6478A>G (p.Thr2160Ala) c.705-570A>G (n.705-570A>G) c.3800A>G c.6202A>G (p.Thr2068Ala) c.5914A>G (p.Thr1972Ala) c.3442A>G (p.Thr1148Ala) | |
19 | g.35733027A>T | CA405428755 | KMT2B | n.784A>T c.6412A>T (p.Thr2138Ser) c.4019A>T (n.4019A>T) c.1696A>T (p.Thr566Ser) n.1631A>T c.1699A>T (p.Thr567Ser) c.6020A>T c.6478A>T (p.Thr2160Ser) c.705-570A>T (n.705-570A>T) c.3800A>T c.6202A>T (p.Thr2068Ser) c.5914A>T (p.Thr1972Ser) c.3442A>T (p.Thr1148Ser) | |
19 | g.35733028C>A | CA405428759 | KMT2B | n.785C>A c.6413C>A (p.Thr2138Asn) c.4020C>A (n.4020C>A) c.1697C>A (p.Thr566Asn) n.1632C>A c.1700C>A (p.Thr567Asn) c.6021C>A c.6479C>A (p.Thr2160Asn) c.705-569C>A (n.705-569C>A) c.3801C>A c.6203C>A (p.Thr2068Asn) c.5915C>A (p.Thr1972Asn) c.3443C>A (p.Thr1148Asn) | gnomAD v4 |
19 | g.35733028C>G | CA405428770 | KMT2B | n.785C>G c.6413C>G (p.Thr2138Ser) c.4020C>G (n.4020C>G) c.1697C>G (p.Thr566Ser) n.1632C>G c.1700C>G (p.Thr567Ser) c.6021C>G c.6479C>G (p.Thr2160Ser) c.705-569C>G (n.705-569C>G) c.3801C>G c.6203C>G (p.Thr2068Ser) c.5915C>G (p.Thr1972Ser) c.3443C>G (p.Thr1148Ser) | gnomAD v4 |
19 | g.35733028C>T | CA405428767 | KMT2B | n.785C>T c.6413C>T (p.Thr2138Ile) c.4020C>T (n.4020C>T) c.1697C>T (p.Thr566Ile) n.1632C>T c.1700C>T (p.Thr567Ile) c.6021C>T c.6479C>T (p.Thr2160Ile) c.705-569C>T (n.705-569C>T) c.3801C>T c.6203C>T (p.Thr2068Ile) c.5915C>T (p.Thr1972Ile) c.3443C>T (p.Thr1148Ile) | gnomAD v4 COSMIC |
19 | g.35733029C>A | CA507309101 | KMT2B | n.786C>A c.6414C>A (p.Thr2138=) c.4021C>A (n.4021C>A) c.1698C>A (p.Thr566=) n.1633C>A c.1701C>A (p.Thr567=) c.6022C>A c.6480C>A (p.Thr2160=) c.705-568C>A (n.705-568C>A) c.3802C>A c.6204C>A (p.Thr2068=) c.5916C>A (p.Thr1972=) c.3444C>A (p.Thr1148=) | |
19 | g.35733029C>G | CA507309103 | KMT2B | n.786C>G c.6414C>G (p.Thr2138=) c.4021C>G (n.4021C>G) c.1698C>G (p.Thr566=) n.1633C>G c.1701C>G (p.Thr567=) c.6022C>G c.6480C>G (p.Thr2160=) c.705-568C>G (n.705-568C>G) c.3802C>G c.6204C>G (p.Thr2068=) c.5916C>G (p.Thr1972=) c.3444C>G (p.Thr1148=) | |
19 | g.35733029C>T | CA507309100 | KMT2B | n.786C>T c.6414C>T (p.Thr2138=) c.4021C>T (n.4021C>T) c.1698C>T (p.Thr566=) n.1633C>T c.1701C>T (p.Thr567=) c.6022C>T c.6480C>T (p.Thr2160=) c.705-568C>T (n.705-568C>T) c.3802C>T c.6204C>T (p.Thr2068=) c.5916C>T (p.Thr1972=) c.3444C>T (p.Thr1148=) | |
19 | g.35733030C>A | CA405428773 | KMT2B | n.787C>A c.6415C>A (p.Arg2139Ser) c.4022C>A (n.4022C>A) c.1699C>A (p.Arg567Ser) n.1634C>A c.1702C>A (p.Arg568Ser) c.6023C>A c.6481C>A (p.Arg2161Ser) c.705-567C>A (n.705-567C>A) c.3803C>A c.6205C>A (p.Arg2069Ser) c.5917C>A (p.Arg1973Ser) c.3445C>A (p.Arg1149Ser) | gnomAD v4 |
19 | g.35733030C= | CA2333794616 | KMT2B | n.787C= c.6415C= (p.Arg2139=) c.4022C= (n.4022C=) c.1699C= (p.Arg567=) n.1634C= c.1702C= (p.Arg568=) c.6023C= c.6481C= (p.Arg2161=) c.705-567C= (n.705-567C=) c.3803C= c.6205C= (p.Arg2069=) c.5917C= (p.Arg1973=) c.3445C= (p.Arg1149=) | |
19 | g.35733030C>G | CA405428777 | KMT2B | n.787C>G c.6415C>G (p.Arg2139Gly) c.4022C>G (n.4022C>G) c.1699C>G (p.Arg567Gly) n.1634C>G c.1702C>G (p.Arg568Gly) c.6023C>G c.6481C>G (p.Arg2161Gly) c.705-567C>G (n.705-567C>G) c.3803C>G c.6205C>G (p.Arg2069Gly) c.5917C>G (p.Arg1973Gly) c.3445C>G (p.Arg1149Gly) | dbSNP gnomAD v4 |
19 | g.35733030C>T | CA9385697 | KMT2B | n.787C>T c.6415C>T (p.Arg2139Cys) c.4022C>T (n.4022C>T) c.1699C>T (p.Arg567Cys) n.1634C>T c.1702C>T (p.Arg568Cys) c.6023C>T c.6481C>T (p.Arg2161Cys) c.705-567C>T (n.705-567C>T) c.3803C>T c.6205C>T (p.Arg2069Cys) c.5917C>T (p.Arg1973Cys) c.3445C>T (p.Arg1149Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733031G>A | CA9385698 | KMT2B | n.788G>A c.6416G>A (p.Arg2139His) c.4023G>A (n.4023G>A) c.1700G>A (p.Arg567His) n.1635G>A c.1703G>A (p.Arg568His) c.6024G>A c.6482G>A (p.Arg2161His) c.705-566G>A (n.705-566G>A) c.3804G>A c.6206G>A (p.Arg2069His) c.5918G>A (p.Arg1973His) c.3446G>A (p.Arg1149His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35733031G>C | CA405428783 | KMT2B | n.788G>C c.6416G>C (p.Arg2139Pro) c.4023G>C (n.4023G>C) c.1700G>C (p.Arg567Pro) n.1635G>C c.1703G>C (p.Arg568Pro) c.6024G>C c.6482G>C (p.Arg2161Pro) c.705-566G>C (n.705-566G>C) c.3804G>C c.6206G>C (p.Arg2069Pro) c.5918G>C (p.Arg1973Pro) c.3446G>C (p.Arg1149Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733031G= | CA2333794617 | KMT2B | n.788G= c.6416G= (p.Arg2139=) c.4023G= (n.4023G=) c.1700G= (p.Arg567=) n.1635G= c.1703G= (p.Arg568=) c.6024G= c.6482G= (p.Arg2161=) c.705-566G= (n.705-566G=) c.3804G= c.6206G= (p.Arg2069=) c.5918G= (p.Arg1973=) c.3446G= (p.Arg1149=) | |
19 | g.35733031G>T | CA405428786 | KMT2B | n.788G>T c.6416G>T (p.Arg2139Leu) c.4023G>T (n.4023G>T) c.1700G>T (p.Arg567Leu) n.1635G>T c.1703G>T (p.Arg568Leu) c.6024G>T c.6482G>T (p.Arg2161Leu) c.705-566G>T (n.705-566G>T) c.3804G>T c.6206G>T (p.Arg2069Leu) c.5918G>T (p.Arg1973Leu) c.3446G>T (p.Arg1149Leu) | |
19 | g.35733032C>A | CA507309116 | KMT2B | n.789C>A c.6417C>A (p.Arg2139=) c.4024C>A (n.4024C>A) c.1701C>A (p.Arg567=) n.1636C>A c.1704C>A (p.Arg568=) c.6025C>A c.6483C>A (p.Arg2161=) c.705-565C>A (n.705-565C>A) c.3805C>A c.6207C>A (p.Arg2069=) c.5919C>A (p.Arg1973=) c.3447C>A (p.Arg1149=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733032C= | CA2333794618 | KMT2B | n.789C= c.6417C= (p.Arg2139=) c.4024C= (n.4024C=) c.1701C= (p.Arg567=) n.1636C= c.1704C= (p.Arg568=) c.6025C= c.6483C= (p.Arg2161=) c.705-565C= (n.705-565C=) c.3805C= c.6207C= (p.Arg2069=) c.5919C= (p.Arg1973=) c.3447C= (p.Arg1149=) | |
19 | g.35733032C>G | CA507309111 | KMT2B | n.789C>G c.6417C>G (p.Arg2139=) c.4024C>G (n.4024C>G) c.1701C>G (p.Arg567=) n.1636C>G c.1704C>G (p.Arg568=) c.6025C>G c.6483C>G (p.Arg2161=) c.705-565C>G (n.705-565C>G) c.3805C>G c.6207C>G (p.Arg2069=) c.5919C>G (p.Arg1973=) c.3447C>G (p.Arg1149=) | |
19 | g.35733032C>T | CA507309113 | KMT2B | n.789C>T c.6417C>T (p.Arg2139=) c.4024C>T (n.4024C>T) c.1701C>T (p.Arg567=) n.1636C>T c.1704C>T (p.Arg568=) c.6025C>T c.6483C>T (p.Arg2161=) c.705-565C>T (n.705-565C>T) c.3805C>T c.6207C>T (p.Arg2069=) c.5919C>T (p.Arg1973=) c.3447C>T (p.Arg1149=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733033A>C | CA405428789 | KMT2B | n.790A>C c.6418A>C (p.Thr2140Pro) c.4025A>C (n.4025A>C) c.1702A>C (p.Thr568Pro) n.1637A>C c.1705A>C (p.Thr569Pro) c.6026A>C c.6484A>C (p.Thr2162Pro) c.705-564A>C (n.705-564A>C) c.3806A>C c.6208A>C (p.Thr2070Pro) c.5920A>C (p.Thr1974Pro) c.3448A>C (p.Thr1150Pro) | gnomAD v4 |
19 | g.35733033A>G | CA405428791 | KMT2B | n.790A>G c.6418A>G (p.Thr2140Ala) c.4025A>G (n.4025A>G) c.1702A>G (p.Thr568Ala) n.1637A>G c.1705A>G (p.Thr569Ala) c.6026A>G c.6484A>G (p.Thr2162Ala) c.705-564A>G (n.705-564A>G) c.3806A>G c.6208A>G (p.Thr2070Ala) c.5920A>G (p.Thr1974Ala) c.3448A>G (p.Thr1150Ala) | gnomAD v4 |
19 | g.35733033A>T | CA405428795 | KMT2B | n.790A>T c.6418A>T (p.Thr2140Ser) c.4025A>T (n.4025A>T) c.1702A>T (p.Thr568Ser) n.1637A>T c.1705A>T (p.Thr569Ser) c.6026A>T c.6484A>T (p.Thr2162Ser) c.705-564A>T (n.705-564A>T) c.3806A>T c.6208A>T (p.Thr2070Ser) c.5920A>T (p.Thr1974Ser) c.3448A>T (p.Thr1150Ser) | |
19 | g.35733034C>A | CA405428804 | KMT2B | n.791C>A c.6419C>A (p.Thr2140Lys) c.4026C>A (n.4026C>A) c.1703C>A (p.Thr568Lys) n.1638C>A c.1706C>A (p.Thr569Lys) c.6027C>A c.6485C>A (p.Thr2162Lys) c.705-563C>A (n.705-563C>A) c.3807C>A c.6209C>A (p.Thr2070Lys) c.5921C>A (p.Thr1974Lys) c.3449C>A (p.Thr1150Lys) | |
19 | g.35733034C= | CA2333794619 | KMT2B | n.791C= c.6419C= (p.Thr2140=) c.4026C= (n.4026C=) c.1703C= (p.Thr568=) n.1638C= c.1706C= (p.Thr569=) c.6027C= c.6485C= (p.Thr2162=) c.705-563C= (n.705-563C=) c.3807C= c.6209C= (p.Thr2070=) c.5921C= (p.Thr1974=) c.3449C= (p.Thr1150=) | |
19 | g.35733034C>G | CA405428801 | KMT2B | n.791C>G c.6419C>G (p.Thr2140Arg) c.4026C>G (n.4026C>G) c.1703C>G (p.Thr568Arg) n.1638C>G c.1706C>G (p.Thr569Arg) c.6027C>G c.6485C>G (p.Thr2162Arg) c.705-563C>G (n.705-563C>G) c.3807C>G c.6209C>G (p.Thr2070Arg) c.5921C>G (p.Thr1974Arg) c.3449C>G (p.Thr1150Arg) | |
19 | g.35733034C>T | CA9385699 | KMT2B | n.791C>T c.6419C>T (p.Thr2140Ile) c.4026C>T (n.4026C>T) c.1703C>T (p.Thr568Ile) n.1638C>T c.1706C>T (p.Thr569Ile) c.6027C>T c.6485C>T (p.Thr2162Ile) c.705-563C>T (n.705-563C>T) c.3807C>T c.6209C>T (p.Thr2070Ile) c.5921C>T (p.Thr1974Ile) c.3449C>T (p.Thr1150Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733035A= | CA2333794620 | KMT2B | n.792A= c.6420A= (p.Thr2140=) c.4027A= (n.4027A=) c.1704A= (p.Thr568=) n.1639A= c.1707A= (p.Thr569=) c.6028A= c.6486A= (p.Thr2162=) c.705-562A= (n.705-562A=) c.3808A= c.6210A= (p.Thr2070=) c.5922A= (p.Thr1974=) c.3450A= (p.Thr1150=) | |
19 | g.35733035A>C | CA507309129 | KMT2B | n.792A>C c.6420A>C (p.Thr2140=) c.4027A>C (n.4027A>C) c.1704A>C (p.Thr568=) n.1639A>C c.1707A>C (p.Thr569=) c.6028A>C c.6486A>C (p.Thr2162=) c.705-562A>C (n.705-562A>C) c.3808A>C c.6210A>C (p.Thr2070=) c.5922A>C (p.Thr1974=) c.3450A>C (p.Thr1150=) | |
19 | g.35733035A>G | CA507309134 | KMT2B | n.792A>G c.6420A>G (p.Thr2140=) c.4027A>G (n.4027A>G) c.1704A>G (p.Thr568=) n.1639A>G c.1707A>G (p.Thr569=) c.6028A>G c.6486A>G (p.Thr2162=) c.705-562A>G (n.705-562A>G) c.3808A>G c.6210A>G (p.Thr2070=) c.5922A>G (p.Thr1974=) c.3450A>G (p.Thr1150=) | |
19 | g.35733035A>T | CA507309132 | KMT2B | n.792A>T c.6420A>T (p.Thr2140=) c.4027A>T (n.4027A>T) c.1704A>T (p.Thr568=) n.1639A>T c.1707A>T (p.Thr569=) c.6028A>T c.6486A>T (p.Thr2162=) c.705-562A>T (n.705-562A>T) c.3808A>T c.6210A>T (p.Thr2070=) c.5922A>T (p.Thr1974=) c.3450A>T (p.Thr1150=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733036T>A | CA405428808 | KMT2B | n.793T>A c.6421T>A (p.Phe2141Ile) c.4028T>A (n.4028T>A) c.1705T>A (p.Phe569Ile) n.1640T>A c.1708T>A (p.Phe570Ile) c.6029T>A c.6487T>A (p.Phe2163Ile) c.705-561T>A (n.705-561T>A) c.3809T>A c.6211T>A (p.Phe2071Ile) c.5923T>A (p.Phe1975Ile) c.3451T>A (p.Phe1151Ile) | |
19 | g.35733036T>C | CA405428811 | KMT2B | n.793T>C c.6421T>C (p.Phe2141Leu) c.4028T>C (n.4028T>C) c.1705T>C (p.Phe569Leu) n.1640T>C c.1708T>C (p.Phe570Leu) c.6029T>C c.6487T>C (p.Phe2163Leu) c.705-561T>C (n.705-561T>C) c.3809T>C c.6211T>C (p.Phe2071Leu) c.5923T>C (p.Phe1975Leu) c.3451T>C (p.Phe1151Leu) | |
19 | g.35733036T>G | CA405428814 | KMT2B | n.793T>G c.6421T>G (p.Phe2141Val) c.4028T>G (n.4028T>G) c.1705T>G (p.Phe569Val) n.1640T>G c.1708T>G (p.Phe570Val) c.6029T>G c.6487T>G (p.Phe2163Val) c.705-561T>G (n.705-561T>G) c.3809T>G c.6211T>G (p.Phe2071Val) c.5923T>G (p.Phe1975Val) c.3451T>G (p.Phe1151Val) | gnomAD v4 |
19 | g.35733037T>A | CA9385700 | KMT2B | n.794T>A c.6422T>A (p.Phe2141Tyr) c.4029T>A (n.4029T>A) c.1706T>A (p.Phe569Tyr) n.1641T>A c.1709T>A (p.Phe570Tyr) c.6030T>A c.6488T>A (p.Phe2163Tyr) c.705-560T>A (n.705-560T>A) c.3810T>A c.6212T>A (p.Phe2071Tyr) c.5924T>A (p.Phe1975Tyr) c.3452T>A (p.Phe1151Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733037T>C | CA405428818 | KMT2B | n.794T>C c.6422T>C (p.Phe2141Ser) c.4029T>C (n.4029T>C) c.1706T>C (p.Phe569Ser) n.1641T>C c.1709T>C (p.Phe570Ser) c.6030T>C c.6488T>C (p.Phe2163Ser) c.705-560T>C (n.705-560T>C) c.3810T>C c.6212T>C (p.Phe2071Ser) c.5924T>C (p.Phe1975Ser) c.3452T>C (p.Phe1151Ser) | |
19 | g.35733037T>G | CA405428821 | KMT2B | n.794T>G c.6422T>G (p.Phe2141Cys) c.4029T>G (n.4029T>G) c.1706T>G (p.Phe569Cys) n.1641T>G c.1709T>G (p.Phe570Cys) c.6030T>G c.6488T>G (p.Phe2163Cys) c.705-560T>G (n.705-560T>G) c.3810T>G c.6212T>G (p.Phe2071Cys) c.5924T>G (p.Phe1975Cys) c.3452T>G (p.Phe1151Cys) | gnomAD v4 |
19 | g.35733037T= | CA2333794621 | KMT2B | n.794T= c.6422T= (p.Phe2141=) c.4029T= (n.4029T=) c.1706T= (p.Phe569=) n.1641T= c.1709T= (p.Phe570=) c.6030T= c.6488T= (p.Phe2163=) c.705-560T= (n.705-560T=) c.3810T= c.6212T= (p.Phe2071=) c.5924T= (p.Phe1975=) c.3452T= (p.Phe1151=) | |
19 | g.35733038T>A | CA405428825 | KMT2B | n.795T>A c.6423T>A (p.Phe2141Leu) c.4030T>A (n.4030T>A) c.1707T>A (p.Phe569Leu) n.1642T>A c.1710T>A (p.Phe570Leu) c.6031T>A c.6489T>A (p.Phe2163Leu) c.705-559T>A (n.705-559T>A) c.3811T>A c.6213T>A (p.Phe2071Leu) c.5925T>A (p.Phe1975Leu) c.3453T>A (p.Phe1151Leu) | |
19 | g.35733038T>C | CA507309140 | KMT2B | n.795T>C c.6423T>C (p.Phe2141=) c.4030T>C (n.4030T>C) c.1707T>C (p.Phe569=) n.1642T>C c.1710T>C (p.Phe570=) c.6031T>C c.6489T>C (p.Phe2163=) c.705-559T>C (n.705-559T>C) c.3811T>C c.6213T>C (p.Phe2071=) c.5925T>C (p.Phe1975=) c.3453T>C (p.Phe1151=) | |
19 | g.35733038T>G | CA405428827 | KMT2B | n.795T>G c.6423T>G (p.Phe2141Leu) c.4030T>G (n.4030T>G) c.1707T>G (p.Phe569Leu) n.1642T>G c.1710T>G (p.Phe570Leu) c.6031T>G c.6489T>G (p.Phe2163Leu) c.705-559T>G (n.705-559T>G) c.3811T>G c.6213T>G (p.Phe2071Leu) c.5925T>G (p.Phe1975Leu) c.3453T>G (p.Phe1151Leu) | |
19 | g.35733039G>A | CA9385701 | KMT2B | n.796G>A c.6424G>A (p.Ala2142Thr) c.4031G>A (n.4031G>A) c.1708G>A (p.Ala570Thr) n.1643G>A c.1711G>A (p.Ala571Thr) c.6032G>A c.6490G>A (p.Ala2164Thr) c.705-558G>A (n.705-558G>A) c.3812G>A c.6214G>A (p.Ala2072Thr) c.5926G>A (p.Ala1976Thr) c.3454G>A (p.Ala1152Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733039G>C | CA405428833 | KMT2B | n.796G>C c.6424G>C (p.Ala2142Pro) c.4031G>C (n.4031G>C) c.1708G>C (p.Ala570Pro) n.1643G>C c.1711G>C (p.Ala571Pro) c.6032G>C c.6490G>C (p.Ala2164Pro) c.705-558G>C (n.705-558G>C) c.3812G>C c.6214G>C (p.Ala2072Pro) c.5926G>C (p.Ala1976Pro) c.3454G>C (p.Ala1152Pro) | |
19 | g.35733039G= | CA2333794622 | KMT2B | n.796G= c.6424G= (p.Ala2142=) c.4031G= (n.4031G=) c.1708G= (p.Ala570=) n.1643G= c.1711G= (p.Ala571=) c.6032G= c.6490G= (p.Ala2164=) c.705-558G= (n.705-558G=) c.3812G= c.6214G= (p.Ala2072=) c.5926G= (p.Ala1976=) c.3454G= (p.Ala1152=) | |
19 | g.35733039G>T | CA405428836 | KMT2B | n.796G>T c.6424G>T (p.Ala2142Ser) c.4031G>T (n.4031G>T) c.1708G>T (p.Ala570Ser) n.1643G>T c.1711G>T (p.Ala571Ser) c.6032G>T c.6490G>T (p.Ala2164Ser) c.705-558G>T (n.705-558G>T) c.3812G>T c.6214G>T (p.Ala2072Ser) c.5926G>T (p.Ala1976Ser) c.3454G>T (p.Ala1152Ser) | gnomAD v4 |
19 | g.35733040C>A | CA405428845 | KMT2B | n.797C>A c.6425C>A (p.Ala2142Asp) c.4032C>A (n.4032C>A) c.1709C>A (p.Ala570Asp) n.1644C>A c.1712C>A (p.Ala571Asp) c.6033C>A c.6491C>A (p.Ala2164Asp) c.705-557C>A (n.705-557C>A) c.3813C>A c.6215C>A (p.Ala2072Asp) c.5927C>A (p.Ala1976Asp) c.3455C>A (p.Ala1152Asp) | |
19 | g.35733040C>G | CA405428843 | KMT2B | n.797C>G c.6425C>G (p.Ala2142Gly) c.4032C>G (n.4032C>G) c.1709C>G (p.Ala570Gly) n.1644C>G c.1712C>G (p.Ala571Gly) c.6033C>G c.6491C>G (p.Ala2164Gly) c.705-557C>G (n.705-557C>G) c.3813C>G c.6215C>G (p.Ala2072Gly) c.5927C>G (p.Ala1976Gly) c.3455C>G (p.Ala1152Gly) | |
19 | g.35733040C>T | CA405428840 | KMT2B | n.797C>T c.6425C>T (p.Ala2142Val) c.4032C>T (n.4032C>T) c.1709C>T (p.Ala570Val) n.1644C>T c.1712C>T (p.Ala571Val) c.6033C>T c.6491C>T (p.Ala2164Val) c.705-557C>T (n.705-557C>T) c.3813C>T c.6215C>T (p.Ala2072Val) c.5927C>T (p.Ala1976Val) c.3455C>T (p.Ala1152Val) | gnomAD v4 |
19 | g.35733041C>A | CA507308290 | KMT2B | n.798C>A c.6426C>A (p.Ala2142=) c.4033C>A (n.4033C>A) c.1710C>A (p.Ala570=) n.1645C>A c.1713C>A (p.Ala571=) c.6034C>A c.6492C>A (p.Ala2164=) c.705-556C>A (n.705-556C>A) c.3814C>A c.6216C>A (p.Ala2072=) c.5928C>A (p.Ala1976=) c.3456C>A (p.Ala1152=) | gnomAD v4 |
19 | g.35733041C= | CA2333794623 | KMT2B | n.798C= c.6426C= (p.Ala2142=) c.4033C= (n.4033C=) c.1710C= (p.Ala570=) n.1645C= c.1713C= (p.Ala571=) c.6034C= c.6492C= (p.Ala2164=) c.705-556C= (n.705-556C=) c.3814C= c.6216C= (p.Ala2072=) c.5928C= (p.Ala1976=) c.3456C= (p.Ala1152=) | |
19 | g.35733041C>G | CA507308292 | KMT2B | n.798C>G c.6426C>G (p.Ala2142=) c.4033C>G (n.4033C>G) c.1710C>G (p.Ala570=) n.1645C>G c.1713C>G (p.Ala571=) c.6034C>G c.6492C>G (p.Ala2164=) c.705-556C>G (n.705-556C>G) c.3814C>G c.6216C>G (p.Ala2072=) c.5928C>G (p.Ala1976=) c.3456C>G (p.Ala1152=) | gnomAD v4 |
19 | g.35733041C>T | CA9385702 | KMT2B | n.798C>T c.6426C>T (p.Ala2142=) c.4033C>T (n.4033C>T) c.1710C>T (p.Ala570=) n.1645C>T c.1713C>T (p.Ala571=) c.6034C>T c.6492C>T (p.Ala2164=) c.705-556C>T (n.705-556C>T) c.3814C>T c.6216C>T (p.Ala2072=) c.5928C>T (p.Ala1976=) c.3456C>T (p.Ala1152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733042T>A | CA405428850 | KMT2B | n.799T>A c.6427T>A (p.Trp2143Arg) c.4034T>A (n.4034T>A) c.1711T>A (p.Trp571Arg) n.1646T>A c.1714T>A (p.Trp572Arg) c.6035T>A c.6493T>A (p.Trp2165Arg) c.705-555T>A (n.705-555T>A) c.3815T>A c.6217T>A (p.Trp2073Arg) c.5929T>A (p.Trp1977Arg) c.3457T>A (p.Trp1153Arg) | |
19 | g.35733042T>C | CA405428853 | KMT2B | n.799T>C c.6427T>C (p.Trp2143Arg) c.4034T>C (n.4034T>C) c.1711T>C (p.Trp571Arg) n.1646T>C c.1714T>C (p.Trp572Arg) c.6035T>C c.6493T>C (p.Trp2165Arg) c.705-555T>C (n.705-555T>C) c.3815T>C c.6217T>C (p.Trp2073Arg) c.5929T>C (p.Trp1977Arg) c.3457T>C (p.Trp1153Arg) | |
19 | g.35733042T>G | CA405428856 | KMT2B | n.799T>G c.6427T>G (p.Trp2143Gly) c.4034T>G (n.4034T>G) c.1711T>G (p.Trp571Gly) n.1646T>G c.1714T>G (p.Trp572Gly) c.6035T>G c.6493T>G (p.Trp2165Gly) c.705-555T>G (n.705-555T>G) c.3815T>G c.6217T>G (p.Trp2073Gly) c.5929T>G (p.Trp1977Gly) c.3457T>G (p.Trp1153Gly) | |
19 | g.35733043G>A | CA405428860 | KMT2B | n.800G>A c.6428G>A (p.Trp2143Ter) c.4035G>A (n.4035G>A) c.1712G>A (p.Trp571Ter) n.1647G>A c.1715G>A (p.Trp572Ter) c.6036G>A c.6494G>A (p.Trp2165Ter) c.705-554G>A (n.705-554G>A) c.3816G>A c.6218G>A (p.Trp2073Ter) c.5930G>A (p.Trp1977Ter) c.3458G>A (p.Trp1153Ter) | |
19 | g.35733043G>C | CA405428862 | KMT2B | n.800G>C c.6428G>C (p.Trp2143Ser) c.4035G>C (n.4035G>C) c.1712G>C (p.Trp571Ser) n.1647G>C c.1715G>C (p.Trp572Ser) c.6036G>C c.6494G>C (p.Trp2165Ser) c.705-554G>C (n.705-554G>C) c.3816G>C c.6218G>C (p.Trp2073Ser) c.5930G>C (p.Trp1977Ser) c.3458G>C (p.Trp1153Ser) | |
19 | g.35733043G>T | CA405428865 | KMT2B | n.800G>T c.6428G>T (p.Trp2143Leu) c.4035G>T (n.4035G>T) c.1712G>T (p.Trp571Leu) n.1647G>T c.1715G>T (p.Trp572Leu) c.6036G>T c.6494G>T (p.Trp2165Leu) c.705-554G>T (n.705-554G>T) c.3816G>T c.6218G>T (p.Trp2073Leu) c.5930G>T (p.Trp1977Leu) c.3458G>T (p.Trp1153Leu) | |
19 | g.35733044G>A | CA405428870 | KMT2B | n.801G>A c.6429G>A (p.Trp2143Ter) c.4036G>A (n.4036G>A) c.1713G>A (p.Trp571Ter) n.1648G>A c.1716G>A (p.Trp572Ter) c.6037G>A c.6495G>A (p.Trp2165Ter) c.705-553G>A (n.705-553G>A) c.3817G>A c.6219G>A (p.Trp2073Ter) c.5931G>A (p.Trp1977Ter) c.3459G>A (p.Trp1153Ter) | gnomAD v4 |
19 | g.35733044G>C | CA405428873 | KMT2B | n.801G>C c.6429G>C (p.Trp2143Cys) c.4036G>C (n.4036G>C) c.1713G>C (p.Trp571Cys) n.1648G>C c.1716G>C (p.Trp572Cys) c.6037G>C c.6495G>C (p.Trp2165Cys) c.705-553G>C (n.705-553G>C) c.3817G>C c.6219G>C (p.Trp2073Cys) c.5931G>C (p.Trp1977Cys) c.3459G>C (p.Trp1153Cys) | |
19 | g.35733044G>T | CA405428875 | KMT2B | n.801G>T c.6429G>T (p.Trp2143Cys) c.4036G>T (n.4036G>T) c.1713G>T (p.Trp571Cys) n.1648G>T c.1716G>T (p.Trp572Cys) c.6037G>T c.6495G>T (p.Trp2165Cys) c.705-553G>T (n.705-553G>T) c.3817G>T c.6219G>T (p.Trp2073Cys) c.5931G>T (p.Trp1977Cys) c.3459G>T (p.Trp1153Cys) | |
19 | g.35733045C>A | CA405428879 | KMT2B | n.802C>A c.6430C>A (p.Leu2144Ile) c.4037C>A (n.4037C>A) c.1714C>A (p.Leu572Ile) n.1649C>A c.1717C>A (p.Leu573Ile) c.6038C>A c.6496C>A (p.Leu2166Ile) c.705-552C>A (n.705-552C>A) c.3818C>A c.6220C>A (p.Leu2074Ile) c.5932C>A (p.Leu1978Ile) c.3460C>A (p.Leu1154Ile) | gnomAD v4 |
19 | g.35733045C>G | CA405428881 | KMT2B | n.802C>G c.6430C>G (p.Leu2144Val) c.4037C>G (n.4037C>G) c.1714C>G (p.Leu572Val) n.1649C>G c.1717C>G (p.Leu573Val) c.6038C>G c.6496C>G (p.Leu2166Val) c.705-552C>G (n.705-552C>G) c.3818C>G c.6220C>G (p.Leu2074Val) c.5932C>G (p.Leu1978Val) c.3460C>G (p.Leu1154Val) | gnomAD v4 |
19 | g.35733045C>T | CA405428884 | KMT2B | n.802C>T c.6430C>T (p.Leu2144Phe) c.4037C>T (n.4037C>T) c.1714C>T (p.Leu572Phe) n.1649C>T c.1717C>T (p.Leu573Phe) c.6038C>T c.6496C>T (p.Leu2166Phe) c.705-552C>T (n.705-552C>T) c.3818C>T c.6220C>T (p.Leu2074Phe) c.5932C>T (p.Leu1978Phe) c.3460C>T (p.Leu1154Phe) | ClinVar |
19 | g.35733046T>A | CA405428891 | KMT2B | n.803T>A c.6431T>A (p.Leu2144His) c.4038T>A (n.4038T>A) c.1715T>A (p.Leu572His) n.1650T>A c.1718T>A (p.Leu573His) c.6039T>A c.6497T>A (p.Leu2166His) c.705-551T>A (n.705-551T>A) c.3819T>A c.6221T>A (p.Leu2074His) c.5933T>A (p.Leu1978His) c.3461T>A (p.Leu1154His) | |
19 | g.35733046T>C | CA405428894 | KMT2B | n.803T>C c.6431T>C (p.Leu2144Pro) c.4038T>C (n.4038T>C) c.1715T>C (p.Leu572Pro) n.1650T>C c.1718T>C (p.Leu573Pro) c.6039T>C c.6497T>C (p.Leu2166Pro) c.705-551T>C (n.705-551T>C) c.3819T>C c.6221T>C (p.Leu2074Pro) c.5933T>C (p.Leu1978Pro) c.3461T>C (p.Leu1154Pro) | |
19 | g.35733046T>G | CA405428888 | KMT2B | n.803T>G c.6431T>G (p.Leu2144Arg) c.4038T>G (n.4038T>G) c.1715T>G (p.Leu572Arg) n.1650T>G c.1718T>G (p.Leu573Arg) c.6039T>G c.6497T>G (p.Leu2166Arg) c.705-551T>G (n.705-551T>G) c.3819T>G c.6221T>G (p.Leu2074Arg) c.5933T>G (p.Leu1978Arg) c.3461T>G (p.Leu1154Arg) | |
19 | g.35733046_35733055delinsTCCCAGGGGC | CA2333794624 | KMT2B | n.803_812delinsTCCCAGGGGC c.6431_6440delinsTCCCAGGGGC (p.Leu2144=) c.4038_4047delinsTCCCAGGGGC (n.4038_4047delinsTCCCAGGGGC) c.1715_1724delinsTCCCAGGGGC (p.Leu572=) n.1650_1659delinsTCCCAGGGGC c.1718_1727delinsTCCCAGGGGC (p.Leu573=) c.6039_6048delinsTCCCAGGGGC c.6497_6506delinsTCCCAGGGGC (p.Leu2166=) c.705-551_705-542delinsTCCCAGGGGC (n.705-551_705-542delinsTCCCAGGGGC) c.3819_3828delinsTCCCAGGGGC c.6221_6230delinsTCCCAGGGGC (p.Leu2074=) c.5933_5942delinsTCCCAGGGGC (p.Leu1978=) c.3461_3470delinsTCCCAGGGGC (p.Leu1154=) | |
19 | g.35733047C>A | CA507308308 | KMT2B | n.804C>A c.6432C>A (p.Leu2144=) c.4039C>A (n.4039C>A) c.1716C>A (p.Leu572=) n.1651C>A c.1719C>A (p.Leu573=) c.6040C>A c.6498C>A (p.Leu2166=) c.705-550C>A (n.705-550C>A) c.3820C>A c.6222C>A (p.Leu2074=) c.5934C>A (p.Leu1978=) c.3462C>A (p.Leu1154=) | gnomAD v4 |
19 | g.35733047C= | CA2333794625 | KMT2B | n.804C= c.6432C= (p.Leu2144=) c.4039C= (n.4039C=) c.1716C= (p.Leu572=) n.1651C= c.1719C= (p.Leu573=) c.6040C= c.6498C= (p.Leu2166=) c.705-550C= (n.705-550C=) c.3820C= c.6222C= (p.Leu2074=) c.5934C= (p.Leu1978=) c.3462C= (p.Leu1154=) | |
19 | g.35733047C>G | CA507308310 | KMT2B | n.804C>G c.6432C>G (p.Leu2144=) c.4039C>G (n.4039C>G) c.1716C>G (p.Leu572=) n.1651C>G c.1719C>G (p.Leu573=) c.6040C>G c.6498C>G (p.Leu2166=) c.705-550C>G (n.705-550C>G) c.3820C>G c.6222C>G (p.Leu2074=) c.5934C>G (p.Leu1978=) c.3462C>G (p.Leu1154=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733047C>T | CA507308311 | KMT2B | n.804C>T c.6432C>T (p.Leu2144=) c.4039C>T (n.4039C>T) c.1716C>T (p.Leu572=) n.1651C>T c.1719C>T (p.Leu573=) c.6040C>T c.6498C>T (p.Leu2166=) c.705-550C>T (n.705-550C>T) c.3820C>T c.6222C>T (p.Leu2074=) c.5934C>T (p.Leu1978=) c.3462C>T (p.Leu1154=) | gnomAD v4 |
19 | g.35733055_35733063del | CA9385703 | KMT2B | n.812_820del c.6440_6448del (p.Ala2147_Gly2149del) c.4047_4055del (n.4047_4055del) c.1724_1732del (p.Ala575_Gly577del) n.1659_1667del c.1727_1735del (p.Ala576_Gly578del) c.6048_6056del c.6506_6514del (p.Ala2169_Gly2171del) c.705-542_705-534del (n.705-542_705-534del) c.3828_3836del c.6230_6238del (p.Ala2077_Gly2079del) c.5942_5950del (p.Ala1981_Gly1983del) c.3470_3478del (p.Ala1157_Gly1159del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733048C>A | CA405428900 | KMT2B | n.805C>A c.6433C>A (p.Pro2145Thr) c.4040C>A (n.4040C>A) c.1717C>A (p.Pro573Thr) n.1652C>A c.1720C>A (p.Pro574Thr) c.6041C>A c.6499C>A (p.Pro2167Thr) c.705-549C>A (n.705-549C>A) c.3821C>A c.6223C>A (p.Pro2075Thr) c.5935C>A (p.Pro1979Thr) c.3463C>A (p.Pro1155Thr) | gnomAD v4 |
19 | g.35733048C= | CA2333794626 | KMT2B | n.805C= c.6433C= (p.Pro2145=) c.4040C= (n.4040C=) c.1717C= (p.Pro573=) n.1652C= c.1720C= (p.Pro574=) c.6041C= c.6499C= (p.Pro2167=) c.705-549C= (n.705-549C=) c.3821C= c.6223C= (p.Pro2075=) c.5935C= (p.Pro1979=) c.3463C= (p.Pro1155=) | |
19 | g.35733048C>G | CA405428901 | KMT2B | n.805C>G c.6433C>G (p.Pro2145Ala) c.4040C>G (n.4040C>G) c.1717C>G (p.Pro573Ala) n.1652C>G c.1720C>G (p.Pro574Ala) c.6041C>G c.6499C>G (p.Pro2167Ala) c.705-549C>G (n.705-549C>G) c.3821C>G c.6223C>G (p.Pro2075Ala) c.5935C>G (p.Pro1979Ala) c.3463C>G (p.Pro1155Ala) | |
19 | g.35733048C>T | CA405428903 | KMT2B | n.805C>T c.6433C>T (p.Pro2145Ser) c.4040C>T (n.4040C>T) c.1717C>T (p.Pro573Ser) n.1652C>T c.1720C>T (p.Pro574Ser) c.6041C>T c.6499C>T (p.Pro2167Ser) c.705-549C>T (n.705-549C>T) c.3821C>T c.6223C>T (p.Pro2075Ser) c.5935C>T (p.Pro1979Ser) c.3463C>T (p.Pro1155Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733049C>A | CA405428906 | KMT2B | n.806C>A c.6434C>A (p.Pro2145Gln) c.4041C>A (n.4041C>A) c.1718C>A (p.Pro573Gln) n.1653C>A c.1721C>A (p.Pro574Gln) c.6042C>A c.6500C>A (p.Pro2167Gln) c.705-548C>A (n.705-548C>A) c.3822C>A c.6224C>A (p.Pro2075Gln) c.5936C>A (p.Pro1979Gln) c.3464C>A (p.Pro1155Gln) | |
19 | g.35733049C>G | CA405428908 | KMT2B | n.806C>G c.6434C>G (p.Pro2145Arg) c.4041C>G (n.4041C>G) c.1718C>G (p.Pro573Arg) n.1653C>G c.1721C>G (p.Pro574Arg) c.6042C>G c.6500C>G (p.Pro2167Arg) c.705-548C>G (n.705-548C>G) c.3822C>G c.6224C>G (p.Pro2075Arg) c.5936C>G (p.Pro1979Arg) c.3464C>G (p.Pro1155Arg) | gnomAD v3 gnomAD v4 |
19 | g.35733049C>T | CA405428911 | KMT2B | n.806C>T c.6434C>T (p.Pro2145Leu) c.4041C>T (n.4041C>T) c.1718C>T (p.Pro573Leu) n.1653C>T c.1721C>T (p.Pro574Leu) c.6042C>T c.6500C>T (p.Pro2167Leu) c.705-548C>T (n.705-548C>T) c.3822C>T c.6224C>T (p.Pro2075Leu) c.5936C>T (p.Pro1979Leu) c.3464C>T (p.Pro1155Leu) | |
19 | g.35733050A= | CA2333794627 | KMT2B | n.807A= c.6435A= (p.Pro2145=) c.4042A= (n.4042A=) c.1719A= (p.Pro573=) n.1654A= c.1722A= (p.Pro574=) c.6043A= c.6501A= (p.Pro2167=) c.705-547A= (n.705-547A=) c.3823A= c.6225A= (p.Pro2075=) c.5937A= (p.Pro1979=) c.3465A= (p.Pro1155=) | |
19 | g.35733050A>C | CA307796883 | KMT2B | n.807A>C c.6435A>C (p.Pro2145=) c.4042A>C (n.4042A>C) c.1719A>C (p.Pro573=) n.1654A>C c.1722A>C (p.Pro574=) c.6043A>C c.6501A>C (p.Pro2167=) c.705-547A>C (n.705-547A>C) c.3823A>C c.6225A>C (p.Pro2075=) c.5937A>C (p.Pro1979=) c.3465A>C (p.Pro1155=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733050A>G | CA507308326 | KMT2B | n.807A>G c.6435A>G (p.Pro2145=) c.4042A>G (n.4042A>G) c.1719A>G (p.Pro573=) n.1654A>G c.1722A>G (p.Pro574=) c.6043A>G c.6501A>G (p.Pro2167=) c.705-547A>G (n.705-547A>G) c.3823A>G c.6225A>G (p.Pro2075=) c.5937A>G (p.Pro1979=) c.3465A>G (p.Pro1155=) | gnomAD v4 |
19 | g.35733050A>T | CA507308323 | KMT2B | n.807A>T c.6435A>T (p.Pro2145=) c.4042A>T (n.4042A>T) c.1719A>T (p.Pro573=) n.1654A>T c.1722A>T (p.Pro574=) c.6043A>T c.6501A>T (p.Pro2167=) c.705-547A>T (n.705-547A>T) c.3823A>T c.6225A>T (p.Pro2075=) c.5937A>T (p.Pro1979=) c.3465A>T (p.Pro1155=) | |
19 | g.35733051G>A | CA405428915 | KMT2B | n.808G>A c.6436G>A (p.Gly2146Arg) c.4043G>A (n.4043G>A) c.1720G>A (p.Gly574Arg) n.1655G>A c.1723G>A (p.Gly575Arg) c.6044G>A c.6502G>A (p.Gly2168Arg) c.705-546G>A (n.705-546G>A) c.3824G>A c.6226G>A (p.Gly2076Arg) c.5938G>A (p.Gly1980Arg) c.3466G>A (p.Gly1156Arg) | gnomAD v4 |
19 | g.35733051G>C | CA405428918 | KMT2B | n.808G>C c.6436G>C (p.Gly2146Arg) c.4043G>C (n.4043G>C) c.1720G>C (p.Gly574Arg) n.1655G>C c.1723G>C (p.Gly575Arg) c.6044G>C c.6502G>C (p.Gly2168Arg) c.705-546G>C (n.705-546G>C) c.3824G>C c.6226G>C (p.Gly2076Arg) c.5938G>C (p.Gly1980Arg) c.3466G>C (p.Gly1156Arg) | dbSNP gnomAD v4 |
19 | g.35733051G= | CA2333794628 | KMT2B | n.808G= c.6436G= (p.Gly2146=) c.4043G= (n.4043G=) c.1720G= (p.Gly574=) n.1655G= c.1723G= (p.Gly575=) c.6044G= c.6502G= (p.Gly2168=) c.705-546G= (n.705-546G=) c.3824G= c.6226G= (p.Gly2076=) c.5938G= (p.Gly1980=) c.3466G= (p.Gly1156=) | |
19 | g.35733051G>T | CA405428920 | KMT2B | n.808G>T c.6436G>T (p.Gly2146Trp) c.4043G>T (n.4043G>T) c.1720G>T (p.Gly574Trp) n.1655G>T c.1723G>T (p.Gly575Trp) c.6044G>T c.6502G>T (p.Gly2168Trp) c.705-546G>T (n.705-546G>T) c.3824G>T c.6226G>T (p.Gly2076Trp) c.5938G>T (p.Gly1980Trp) c.3466G>T (p.Gly1156Trp) | |
19 | g.35733052G>A | CA405428924 | KMT2B | n.809G>A c.6437G>A (p.Gly2146Glu) c.4044G>A (n.4044G>A) c.1721G>A (p.Gly574Glu) n.1656G>A c.1724G>A (p.Gly575Glu) c.6045G>A c.6503G>A (p.Gly2168Glu) c.705-545G>A (n.705-545G>A) c.3825G>A c.6227G>A (p.Gly2076Glu) c.5939G>A (p.Gly1980Glu) c.3467G>A (p.Gly1156Glu) | dbSNP gnomAD v2 |
19 | g.35733052G>C | CA405428926 | KMT2B | n.809G>C c.6437G>C (p.Gly2146Ala) c.4044G>C (n.4044G>C) c.1721G>C (p.Gly574Ala) n.1656G>C c.1724G>C (p.Gly575Ala) c.6045G>C c.6503G>C (p.Gly2168Ala) c.705-545G>C (n.705-545G>C) c.3825G>C c.6227G>C (p.Gly2076Ala) c.5939G>C (p.Gly1980Ala) c.3467G>C (p.Gly1156Ala) | |
19 | g.35733052G= | CA2333794629 | KMT2B | n.809G= c.6437G= (p.Gly2146=) c.4044G= (n.4044G=) c.1721G= (p.Gly574=) n.1656G= c.1724G= (p.Gly575=) c.6045G= c.6503G= (p.Gly2168=) c.705-545G= (n.705-545G=) c.3825G= c.6227G= (p.Gly2076=) c.5939G= (p.Gly1980=) c.3467G= (p.Gly1156=) | |
19 | g.35733052G>T | CA405428930 | KMT2B | n.809G>T c.6437G>T (p.Gly2146Val) c.4044G>T (n.4044G>T) c.1721G>T (p.Gly574Val) n.1656G>T c.1724G>T (p.Gly575Val) c.6045G>T c.6503G>T (p.Gly2168Val) c.705-545G>T (n.705-545G>T) c.3825G>T c.6227G>T (p.Gly2076Val) c.5939G>T (p.Gly1980Val) c.3467G>T (p.Gly1156Val) | |
19 | g.35733053G>A | CA507308332 | KMT2B | n.810G>A c.6438G>A (p.Gly2146=) c.4045G>A (n.4045G>A) c.1722G>A (p.Gly574=) n.1657G>A c.1725G>A (p.Gly575=) c.6046G>A c.6504G>A (p.Gly2168=) c.705-544G>A (n.705-544G>A) c.3826G>A c.6228G>A (p.Gly2076=) c.5940G>A (p.Gly1980=) c.3468G>A (p.Gly1156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733053G>C | CA507308335 | KMT2B | n.810G>C c.6438G>C (p.Gly2146=) c.4045G>C (n.4045G>C) c.1722G>C (p.Gly574=) n.1657G>C c.1725G>C (p.Gly575=) c.6046G>C c.6504G>C (p.Gly2168=) c.705-544G>C (n.705-544G>C) c.3826G>C c.6228G>C (p.Gly2076=) c.5940G>C (p.Gly1980=) c.3468G>C (p.Gly1156=) | |
19 | g.35733053G= | CA2333794630 | KMT2B | n.810G= c.6438G= (p.Gly2146=) c.4045G= (n.4045G=) c.1722G= (p.Gly574=) n.1657G= c.1725G= (p.Gly575=) c.6046G= c.6504G= (p.Gly2168=) c.705-544G= (n.705-544G=) c.3826G= c.6228G= (p.Gly2076=) c.5940G= (p.Gly1980=) c.3468G= (p.Gly1156=) | |
19 | g.35733053G>T | CA507308333 | KMT2B | n.810G>T c.6438G>T (p.Gly2146=) c.4045G>T (n.4045G>T) c.1722G>T (p.Gly574=) n.1657G>T c.1725G>T (p.Gly575=) c.6046G>T c.6504G>T (p.Gly2168=) c.705-544G>T (n.705-544G>T) c.3826G>T c.6228G>T (p.Gly2076=) c.5940G>T (p.Gly1980=) c.3468G>T (p.Gly1156=) | gnomAD v4 |
19 | g.35733054G>A | CA405428936 | KMT2B | n.811G>A c.6439G>A (p.Ala2147Thr) c.4046G>A (n.4046G>A) c.1723G>A (p.Ala575Thr) n.1658G>A c.1726G>A (p.Ala576Thr) c.6047G>A c.6505G>A (p.Ala2169Thr) c.705-543G>A (n.705-543G>A) c.3827G>A c.6229G>A (p.Ala2077Thr) c.5941G>A (p.Ala1981Thr) c.3469G>A (p.Ala1157Thr) | gnomAD v4 |
19 | g.35733054G>C | CA405428938 | KMT2B | n.811G>C c.6439G>C (p.Ala2147Pro) c.4046G>C (n.4046G>C) c.1723G>C (p.Ala575Pro) n.1658G>C c.1726G>C (p.Ala576Pro) c.6047G>C c.6505G>C (p.Ala2169Pro) c.705-543G>C (n.705-543G>C) c.3827G>C c.6229G>C (p.Ala2077Pro) c.5941G>C (p.Ala1981Pro) c.3469G>C (p.Ala1157Pro) | |
19 | g.35733054G>T | CA405428934 | KMT2B | n.811G>T c.6439G>T (p.Ala2147Ser) c.4046G>T (n.4046G>T) c.1723G>T (p.Ala575Ser) n.1658G>T c.1726G>T (p.Ala576Ser) c.6047G>T c.6505G>T (p.Ala2169Ser) c.705-543G>T (n.705-543G>T) c.3827G>T c.6229G>T (p.Ala2077Ser) c.5941G>T (p.Ala1981Ser) c.3469G>T (p.Ala1157Ser) | gnomAD v4 |
19 | g.35733055C>A | CA405428942 | KMT2B | n.812C>A c.6440C>A (p.Ala2147Asp) c.4047C>A (n.4047C>A) c.1724C>A (p.Ala575Asp) n.1659C>A c.1727C>A (p.Ala576Asp) c.6048C>A c.6506C>A (p.Ala2169Asp) c.705-542C>A (n.705-542C>A) c.3828C>A c.6230C>A (p.Ala2077Asp) c.5942C>A (p.Ala1981Asp) c.3470C>A (p.Ala1157Asp) | gnomAD v4 |
19 | g.35733055C>G | CA405428944 | KMT2B | n.812C>G c.6440C>G (p.Ala2147Gly) c.4047C>G (n.4047C>G) c.1724C>G (p.Ala575Gly) n.1659C>G c.1727C>G (p.Ala576Gly) c.6048C>G c.6506C>G (p.Ala2169Gly) c.705-542C>G (n.705-542C>G) c.3828C>G c.6230C>G (p.Ala2077Gly) c.5942C>G (p.Ala1981Gly) c.3470C>G (p.Ala1157Gly) | |
19 | g.35733055C>T | CA405428946 | KMT2B | n.812C>T c.6440C>T (p.Ala2147Val) c.4047C>T (n.4047C>T) c.1724C>T (p.Ala575Val) n.1659C>T c.1727C>T (p.Ala576Val) c.6048C>T c.6506C>T (p.Ala2169Val) c.705-542C>T (n.705-542C>T) c.3828C>T c.6230C>T (p.Ala2077Val) c.5942C>T (p.Ala1981Val) c.3470C>T (p.Ala1157Val) | |
19 | g.35733056C>A | CA507308346 | KMT2B | n.813C>A c.6441C>A (p.Ala2147=) c.4048C>A (n.4048C>A) c.1725C>A (p.Ala575=) n.1660C>A c.1728C>A (p.Ala576=) c.6049C>A c.6507C>A (p.Ala2169=) c.705-541C>A (n.705-541C>A) c.3829C>A c.6231C>A (p.Ala2077=) c.5943C>A (p.Ala1981=) c.3471C>A (p.Ala1157=) | gnomAD v4 |
19 | g.35733056C= | CA2333794631 | KMT2B | n.813C= c.6441C= (p.Ala2147=) c.4048C= (n.4048C=) c.1725C= (p.Ala575=) n.1660C= c.1728C= (p.Ala576=) c.6049C= c.6507C= (p.Ala2169=) c.705-541C= (n.705-541C=) c.3829C= c.6231C= (p.Ala2077=) c.5943C= (p.Ala1981=) c.3471C= (p.Ala1157=) | |
19 | g.35733056C>G | CA507308342 | KMT2B | n.813C>G c.6441C>G (p.Ala2147=) c.4048C>G (n.4048C>G) c.1725C>G (p.Ala575=) n.1660C>G c.1728C>G (p.Ala576=) c.6049C>G c.6507C>G (p.Ala2169=) c.705-541C>G (n.705-541C>G) c.3829C>G c.6231C>G (p.Ala2077=) c.5943C>G (p.Ala1981=) c.3471C>G (p.Ala1157=) | |
19 | g.35733056C>T | CA507308339 | KMT2B | n.813C>T c.6441C>T (p.Ala2147=) c.4048C>T (n.4048C>T) c.1725C>T (p.Ala575=) n.1660C>T c.1728C>T (p.Ala576=) c.6049C>T c.6507C>T (p.Ala2169=) c.705-541C>T (n.705-541C>T) c.3829C>T c.6231C>T (p.Ala2077=) c.5943C>T (p.Ala1981=) c.3471C>T (p.Ala1157=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733057C>A | CA405428950 | KMT2B | n.814C>A c.6442C>A (p.Pro2148Thr) c.4049C>A (n.4049C>A) c.1726C>A (p.Pro576Thr) n.1661C>A c.1729C>A (p.Pro577Thr) c.6050C>A c.6508C>A (p.Pro2170Thr) c.705-540C>A (n.705-540C>A) c.3830C>A c.6232C>A (p.Pro2078Thr) c.5944C>A (p.Pro1982Thr) c.3472C>A (p.Pro1158Thr) | |
19 | g.35733057C>G | CA405428951 | KMT2B | n.814C>G c.6442C>G (p.Pro2148Ala) c.4049C>G (n.4049C>G) c.1726C>G (p.Pro576Ala) n.1661C>G c.1729C>G (p.Pro577Ala) c.6050C>G c.6508C>G (p.Pro2170Ala) c.705-540C>G (n.705-540C>G) c.3830C>G c.6232C>G (p.Pro2078Ala) c.5944C>G (p.Pro1982Ala) c.3472C>G (p.Pro1158Ala) | |
19 | g.35733057C>T | CA405428954 | KMT2B | n.814C>T c.6442C>T (p.Pro2148Ser) c.4049C>T (n.4049C>T) c.1726C>T (p.Pro576Ser) n.1661C>T c.1729C>T (p.Pro577Ser) c.6050C>T c.6508C>T (p.Pro2170Ser) c.705-540C>T (n.705-540C>T) c.3830C>T c.6232C>T (p.Pro2078Ser) c.5944C>T (p.Pro1982Ser) c.3472C>T (p.Pro1158Ser) | |
19 | g.35733058C>A | CA405428959 | KMT2B | n.815C>A c.6443C>A (p.Pro2148Gln) c.4050C>A (n.4050C>A) c.1727C>A (p.Pro576Gln) n.1662C>A c.1730C>A (p.Pro577Gln) c.6051C>A c.6509C>A (p.Pro2170Gln) c.705-539C>A (n.705-539C>A) c.3831C>A c.6233C>A (p.Pro2078Gln) c.5945C>A (p.Pro1982Gln) c.3473C>A (p.Pro1158Gln) | gnomAD v4 |
19 | g.35733058C>G | CA405428966 | KMT2B | n.815C>G c.6443C>G (p.Pro2148Arg) c.4050C>G (n.4050C>G) c.1727C>G (p.Pro576Arg) n.1662C>G c.1730C>G (p.Pro577Arg) c.6051C>G c.6509C>G (p.Pro2170Arg) c.705-539C>G (n.705-539C>G) c.3831C>G c.6233C>G (p.Pro2078Arg) c.5945C>G (p.Pro1982Arg) c.3473C>G (p.Pro1158Arg) | |
19 | g.35733058C>T | CA405428961 | KMT2B | n.815C>T c.6443C>T (p.Pro2148Leu) c.4050C>T (n.4050C>T) c.1727C>T (p.Pro576Leu) n.1662C>T c.1730C>T (p.Pro577Leu) c.6051C>T c.6509C>T (p.Pro2170Leu) c.705-539C>T (n.705-539C>T) c.3831C>T c.6233C>T (p.Pro2078Leu) c.5945C>T (p.Pro1982Leu) c.3473C>T (p.Pro1158Leu) | |
19 | g.35733059A= | CA2333794632 | KMT2B | n.816A= c.6444A= (p.Pro2148=) c.4051A= (n.4051A=) c.1728A= (p.Pro576=) n.1663A= c.1731A= (p.Pro577=) c.6052A= c.6510A= (p.Pro2170=) c.705-538A= (n.705-538A=) c.3832A= c.6234A= (p.Pro2078=) c.5946A= (p.Pro1982=) c.3474A= (p.Pro1158=) | |
19 | g.35733059A>C | CA507308355 | KMT2B | n.816A>C c.6444A>C (p.Pro2148=) c.4051A>C (n.4051A>C) c.1728A>C (p.Pro576=) n.1663A>C c.1731A>C (p.Pro577=) c.6052A>C c.6510A>C (p.Pro2170=) c.705-538A>C (n.705-538A>C) c.3832A>C c.6234A>C (p.Pro2078=) c.5946A>C (p.Pro1982=) c.3474A>C (p.Pro1158=) | |
19 | g.35733059A>G | CA9385704 | KMT2B | n.816A>G c.6444A>G (p.Pro2148=) c.4051A>G (n.4051A>G) c.1728A>G (p.Pro576=) n.1663A>G c.1731A>G (p.Pro577=) c.6052A>G c.6510A>G (p.Pro2170=) c.705-538A>G (n.705-538A>G) c.3832A>G c.6234A>G (p.Pro2078=) c.5946A>G (p.Pro1982=) c.3474A>G (p.Pro1158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733059A>T | CA507308358 | KMT2B | n.816A>T c.6444A>T (p.Pro2148=) c.4051A>T (n.4051A>T) c.1728A>T (p.Pro576=) n.1663A>T c.1731A>T (p.Pro577=) c.6052A>T c.6510A>T (p.Pro2170=) c.705-538A>T (n.705-538A>T) c.3832A>T c.6234A>T (p.Pro2078=) c.5946A>T (p.Pro1982=) c.3474A>T (p.Pro1158=) | |
19 | g.35733060G>A | CA405428973 | KMT2B | n.817G>A c.6445G>A (p.Gly2149Arg) c.4052G>A (n.4052G>A) c.1729G>A (p.Gly577Arg) n.1664G>A c.1732G>A (p.Gly578Arg) c.6053G>A c.6511G>A (p.Gly2171Arg) c.705-537G>A (n.705-537G>A) c.3833G>A c.6235G>A (p.Gly2079Arg) c.5947G>A (p.Gly1983Arg) c.3475G>A (p.Gly1159Arg) | |
19 | g.35733060G>C | CA405428976 | KMT2B | n.817G>C c.6445G>C (p.Gly2149Arg) c.4052G>C (n.4052G>C) c.1729G>C (p.Gly577Arg) n.1664G>C c.1732G>C (p.Gly578Arg) c.6053G>C c.6511G>C (p.Gly2171Arg) c.705-537G>C (n.705-537G>C) c.3833G>C c.6235G>C (p.Gly2079Arg) c.5947G>C (p.Gly1983Arg) c.3475G>C (p.Gly1159Arg) | dbSNP |
19 | g.35733060G= | CA2333794633 | KMT2B | n.817G= c.6445G= (p.Gly2149=) c.4052G= (n.4052G=) c.1729G= (p.Gly577=) n.1664G= c.1732G= (p.Gly578=) c.6053G= c.6511G= (p.Gly2171=) c.705-537G= (n.705-537G=) c.3833G= c.6235G= (p.Gly2079=) c.5947G= (p.Gly1983=) c.3475G= (p.Gly1159=) | |
19 | g.35733060G>T | CA405428984 | KMT2B | n.817G>T c.6445G>T (p.Gly2149Trp) c.4052G>T (n.4052G>T) c.1729G>T (p.Gly577Trp) n.1664G>T c.1732G>T (p.Gly578Trp) c.6053G>T c.6511G>T (p.Gly2171Trp) c.705-537G>T (n.705-537G>T) c.3833G>T c.6235G>T (p.Gly2079Trp) c.5947G>T (p.Gly1983Trp) c.3475G>T (p.Gly1159Trp) | gnomAD v4 |
19 | g.35733061G>A | CA405428993 | KMT2B | n.818G>A c.6446G>A (p.Gly2149Glu) c.4053G>A (n.4053G>A) c.1730G>A (p.Gly577Glu) n.1665G>A c.1733G>A (p.Gly578Glu) c.6054G>A c.6512G>A (p.Gly2171Glu) c.705-536G>A (n.705-536G>A) c.3834G>A c.6236G>A (p.Gly2079Glu) c.5948G>A (p.Gly1983Glu) c.3476G>A (p.Gly1159Glu) | gnomAD v4 |
19 | g.35733061G>C | CA405428990 | KMT2B | n.818G>C c.6446G>C (p.Gly2149Ala) c.4053G>C (n.4053G>C) c.1730G>C (p.Gly577Ala) n.1665G>C c.1733G>C (p.Gly578Ala) c.6054G>C c.6512G>C (p.Gly2171Ala) c.705-536G>C (n.705-536G>C) c.3834G>C c.6236G>C (p.Gly2079Ala) c.5948G>C (p.Gly1983Ala) c.3476G>C (p.Gly1159Ala) | |
19 | g.35733061G>T | CA405428987 | KMT2B | n.818G>T c.6446G>T (p.Gly2149Val) c.4053G>T (n.4053G>T) c.1730G>T (p.Gly577Val) n.1665G>T c.1733G>T (p.Gly578Val) c.6054G>T c.6512G>T (p.Gly2171Val) c.705-536G>T (n.705-536G>T) c.3834G>T c.6236G>T (p.Gly2079Val) c.5948G>T (p.Gly1983Val) c.3476G>T (p.Gly1159Val) | |
19 | g.35733062G>A | CA307796885 | KMT2B | n.819G>A c.6447G>A (p.Gly2149=) c.4054G>A (n.4054G>A) c.1731G>A (p.Gly577=) n.1666G>A c.1734G>A (p.Gly578=) c.6055G>A c.6513G>A (p.Gly2171=) c.705-535G>A (n.705-535G>A) c.3835G>A c.6237G>A (p.Gly2079=) c.5949G>A (p.Gly1983=) c.3477G>A (p.Gly1159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733062G>C | CA507308363 | KMT2B | n.819G>C c.6447G>C (p.Gly2149=) c.4054G>C (n.4054G>C) c.1731G>C (p.Gly577=) n.1666G>C c.1734G>C (p.Gly578=) c.6055G>C c.6513G>C (p.Gly2171=) c.705-535G>C (n.705-535G>C) c.3835G>C c.6237G>C (p.Gly2079=) c.5949G>C (p.Gly1983=) c.3477G>C (p.Gly1159=) | |
19 | g.35733062G= | CA2333794634 | KMT2B | n.819G= c.6447G= (p.Gly2149=) c.4054G= (n.4054G=) c.1731G= (p.Gly577=) n.1666G= c.1734G= (p.Gly578=) c.6055G= c.6513G= (p.Gly2171=) c.705-535G= (n.705-535G=) c.3835G= c.6237G= (p.Gly2079=) c.5949G= (p.Gly1983=) c.3477G= (p.Gly1159=) | |
19 | g.35733062G>T | CA9385705 | KMT2B | n.819G>T c.6447G>T (p.Gly2149=) c.4054G>T (n.4054G>T) c.1731G>T (p.Gly577=) n.1666G>T c.1734G>T (p.Gly578=) c.6055G>T c.6513G>T (p.Gly2171=) c.705-535G>T (n.705-535G>T) c.3835G>T c.6237G>T (p.Gly2079=) c.5949G>T (p.Gly1983=) c.3477G>T (p.Gly1159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733063G>A | CA9385706 | KMT2B | n.820G>A c.6448G>A (p.Val2150Ile) c.4055G>A (n.4055G>A) c.1732G>A (p.Val578Ile) n.1667G>A c.1735G>A (p.Val579Ile) c.6056G>A c.6514G>A (p.Val2172Ile) c.705-534G>A (n.705-534G>A) c.3836G>A c.6238G>A (p.Val2080Ile) c.5950G>A (p.Val1984Ile) c.3478G>A (p.Val1160Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733063G>C | CA405429001 | KMT2B | n.820G>C c.6448G>C (p.Val2150Leu) c.4055G>C (n.4055G>C) c.1732G>C (p.Val578Leu) n.1667G>C c.1735G>C (p.Val579Leu) c.6056G>C c.6514G>C (p.Val2172Leu) c.705-534G>C (n.705-534G>C) c.3836G>C c.6238G>C (p.Val2080Leu) c.5950G>C (p.Val1984Leu) c.3478G>C (p.Val1160Leu) | |
19 | g.35733063G= | CA2333794635 | KMT2B | n.820G= c.6448G= (p.Val2150=) c.4055G= (n.4055G=) c.1732G= (p.Val578=) n.1667G= c.1735G= (p.Val579=) c.6056G= c.6514G= (p.Val2172=) c.705-534G= (n.705-534G=) c.3836G= c.6238G= (p.Val2080=) c.5950G= (p.Val1984=) c.3478G= (p.Val1160=) | |
19 | g.35733063G>T | CA405429004 | KMT2B | n.820G>T c.6448G>T (p.Val2150Phe) c.4055G>T (n.4055G>T) c.1732G>T (p.Val578Phe) n.1667G>T c.1735G>T (p.Val579Phe) c.6056G>T c.6514G>T (p.Val2172Phe) c.705-534G>T (n.705-534G>T) c.3836G>T c.6238G>T (p.Val2080Phe) c.5950G>T (p.Val1984Phe) c.3478G>T (p.Val1160Phe) | gnomAD v4 |
19 | g.35733064T>A | CA405429008 | KMT2B | n.821T>A c.6449T>A (p.Val2150Asp) c.4056T>A (n.4056T>A) c.1733T>A (p.Val578Asp) n.1668T>A c.1736T>A (p.Val579Asp) c.6057T>A c.6515T>A (p.Val2172Asp) c.705-533T>A (n.705-533T>A) c.3837T>A c.6239T>A (p.Val2080Asp) c.5951T>A (p.Val1984Asp) c.3479T>A (p.Val1160Asp) | |
19 | g.35733064T>C | CA405429011 | KMT2B | n.821T>C c.6449T>C (p.Val2150Ala) c.4056T>C (n.4056T>C) c.1733T>C (p.Val578Ala) n.1668T>C c.1736T>C (p.Val579Ala) c.6057T>C c.6515T>C (p.Val2172Ala) c.705-533T>C (n.705-533T>C) c.3837T>C c.6239T>C (p.Val2080Ala) c.5951T>C (p.Val1984Ala) c.3479T>C (p.Val1160Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733064T>G | CA405429013 | KMT2B | n.821T>G c.6449T>G (p.Val2150Gly) c.4056T>G (n.4056T>G) c.1733T>G (p.Val578Gly) n.1668T>G c.1736T>G (p.Val579Gly) c.6057T>G c.6515T>G (p.Val2172Gly) c.705-533T>G (n.705-533T>G) c.3837T>G c.6239T>G (p.Val2080Gly) c.5951T>G (p.Val1984Gly) c.3479T>G (p.Val1160Gly) | |
19 | g.35733064T= | CA2333794636 | KMT2B | n.821T= c.6449T= (p.Val2150=) c.4056T= (n.4056T=) c.1733T= (p.Val578=) n.1668T= c.1736T= (p.Val579=) c.6057T= c.6515T= (p.Val2172=) c.705-533T= (n.705-533T=) c.3837T= c.6239T= (p.Val2080=) c.5951T= (p.Val1984=) c.3479T= (p.Val1160=) | |
19 | g.35733064_35733067delinsCCCAA | CA2695228601 | KMT2B | n.821_824delinsCCCAA c.6449_6452delinsCCCAA (p.Val2150AlafsTer11) c.4056_4059delinsCCCAA (n.4056_4059delinsCCCAA) c.1733_1736delinsCCCAA (p.Val578AlafsTer11) n.1668_1671delinsCCCAA c.1736_1739delinsCCCAA (p.Val579AlafsTer11) c.6057_6060delinsCCCAA c.6515_6518delinsCCCAA (p.Val2172AlafsTer11) c.705-533_705-530delinsCCCAA (n.705-533_705-530delinsCCCAA) c.3837_3840delinsCCCAA c.6239_6242delinsCCCAA (p.Val2080AlafsTer11) c.5951_5954delinsCCCAA (p.Val1984AlafsTer11) c.3479_3482delinsCCCAA (p.Val1160AlafsTer11) | |
19 | g.35733065C>A | CA507308371 | KMT2B | n.822C>A c.6450C>A (p.Val2150=) c.4057C>A (n.4057C>A) c.1734C>A (p.Val578=) n.1669C>A c.1737C>A (p.Val579=) c.6058C>A c.6516C>A (p.Val2172=) c.705-532C>A (n.705-532C>A) c.3838C>A c.6240C>A (p.Val2080=) c.5952C>A (p.Val1984=) c.3480C>A (p.Val1160=) | |
19 | g.35733065C>G | CA507308372 | KMT2B | n.822C>G c.6450C>G (p.Val2150=) c.4057C>G (n.4057C>G) c.1734C>G (p.Val578=) n.1669C>G c.1737C>G (p.Val579=) c.6058C>G c.6516C>G (p.Val2172=) c.705-532C>G (n.705-532C>G) c.3838C>G c.6240C>G (p.Val2080=) c.5952C>G (p.Val1984=) c.3480C>G (p.Val1160=) | |
19 | g.35733065C>T | CA507308373 | KMT2B | n.822C>T c.6450C>T (p.Val2150=) c.4057C>T (n.4057C>T) c.1734C>T (p.Val578=) n.1669C>T c.1737C>T (p.Val579=) c.6058C>T c.6516C>T (p.Val2172=) c.705-532C>T (n.705-532C>T) c.3838C>T c.6240C>T (p.Val2080=) c.5952C>T (p.Val1984=) c.3480C>T (p.Val1160=) | |
19 | g.35733066C>A | CA507308374 | KMT2B | n.823C>A c.6451C>A (p.Arg2151=) c.4058C>A (n.4058C>A) c.1735C>A (p.Arg579=) n.1670C>A c.1738C>A (p.Arg580=) c.6059C>A c.6517C>A (p.Arg2173=) c.705-531C>A (n.705-531C>A) c.3839C>A c.6241C>A (p.Arg2081=) c.5953C>A (p.Arg1985=) c.3481C>A (p.Arg1161=) | |
19 | g.35733066C= | CA2333794637 | KMT2B | n.823C= c.6451C= (p.Arg2151=) c.4058C= (n.4058C=) c.1735C= (p.Arg579=) n.1670C= c.1738C= (p.Arg580=) c.6059C= c.6517C= (p.Arg2173=) c.705-531C= (n.705-531C=) c.3839C= c.6241C= (p.Arg2081=) c.5953C= (p.Arg1985=) c.3481C= (p.Arg1161=) | |
19 | g.35733066C>G | CA405429018 | KMT2B | n.823C>G c.6451C>G (p.Arg2151Gly) c.4058C>G (n.4058C>G) c.1735C>G (p.Arg579Gly) n.1670C>G c.1738C>G (p.Arg580Gly) c.6059C>G c.6517C>G (p.Arg2173Gly) c.705-531C>G (n.705-531C>G) c.3839C>G c.6241C>G (p.Arg2081Gly) c.5953C>G (p.Arg1985Gly) c.3481C>G (p.Arg1161Gly) | ClinVar |
19 | g.35733066C>T | CA405429020 | KMT2B | n.823C>T c.6451C>T (p.Arg2151Trp) c.4058C>T (n.4058C>T) c.1735C>T (p.Arg579Trp) n.1670C>T c.1738C>T (p.Arg580Trp) c.6059C>T c.6517C>T (p.Arg2173Trp) c.705-531C>T (n.705-531C>T) c.3839C>T c.6241C>T (p.Arg2081Trp) c.5953C>T (p.Arg1985Trp) c.3481C>T (p.Arg1161Trp) | dbSNP gnomAD v4 |
19 | g.35733066_35733067insA | CA915952931 | KMT2B | n.823_824insA c.6451_6452insA (p.Arg2151GlnfsTer10) c.4058_4059insA (n.4058_4059insA) c.1735_1736insA (p.Arg579GlnfsTer10) n.1670_1671insA c.1738_1739insA (p.Arg580GlnfsTer10) c.6059_6060insA c.6517_6518insA (p.Arg2173GlnfsTer10) c.705-531_705-530insA (n.705-531_705-530insA) c.3839_3840insA c.6241_6242insA (p.Arg2081GlnfsTer10) c.5953_5954insA (p.Arg1985GlnfsTer10) c.3481_3482insA (p.Arg1161GlnfsTer10) | ClinVar dbSNP |
19 | g.35733067G>A | CA307796896 | KMT2B | n.824G>A c.6452G>A (p.Arg2151Gln) c.4059G>A (n.4059G>A) c.1736G>A (p.Arg579Gln) n.1671G>A c.1739G>A (p.Arg580Gln) c.6060G>A c.6518G>A (p.Arg2173Gln) c.705-530G>A (n.705-530G>A) c.3840G>A c.6242G>A (p.Arg2081Gln) c.5954G>A (p.Arg1985Gln) c.3482G>A (p.Arg1161Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733067G>C | CA9385707 | KMT2B | n.824G>C c.6452G>C (p.Arg2151Pro) c.4059G>C (n.4059G>C) c.1736G>C (p.Arg579Pro) n.1671G>C c.1739G>C (p.Arg580Pro) c.6060G>C c.6518G>C (p.Arg2173Pro) c.705-530G>C (n.705-530G>C) c.3840G>C c.6242G>C (p.Arg2081Pro) c.5954G>C (p.Arg1985Pro) c.3482G>C (p.Arg1161Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733067G= | CA2333794638 | KMT2B | n.824G= c.6452G= (p.Arg2151=) c.4059G= (n.4059G=) c.1736G= (p.Arg579=) n.1671G= c.1739G= (p.Arg580=) c.6060G= c.6518G= (p.Arg2173=) c.705-530G= (n.705-530G=) c.3840G= c.6242G= (p.Arg2081=) c.5954G= (p.Arg1985=) c.3482G= (p.Arg1161=) | |
19 | g.35733067G>T | CA405429029 | KMT2B | n.824G>T c.6452G>T (p.Arg2151Leu) c.4059G>T (n.4059G>T) c.1736G>T (p.Arg579Leu) n.1671G>T c.1739G>T (p.Arg580Leu) c.6060G>T c.6518G>T (p.Arg2173Leu) c.705-530G>T (n.705-530G>T) c.3840G>T c.6242G>T (p.Arg2081Leu) c.5954G>T (p.Arg1985Leu) c.3482G>T (p.Arg1161Leu) | |
19 | g.35733068G>A | CA307796906 | KMT2B | n.825G>A c.6453G>A (p.Arg2151=) c.4060G>A (n.4060G>A) c.1737G>A (p.Arg579=) n.1672G>A c.1740G>A (p.Arg580=) c.6061G>A c.6519G>A (p.Arg2173=) c.705-529G>A (n.705-529G>A) c.3841G>A c.6243G>A (p.Arg2081=) c.5955G>A (p.Arg1985=) c.3483G>A (p.Arg1161=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733068G>C | CA507308385 | KMT2B | n.825G>C c.6453G>C (p.Arg2151=) c.4060G>C (n.4060G>C) c.1737G>C (p.Arg579=) n.1672G>C c.1740G>C (p.Arg580=) c.6061G>C c.6519G>C (p.Arg2173=) c.705-529G>C (n.705-529G>C) c.3841G>C c.6243G>C (p.Arg2081=) c.5955G>C (p.Arg1985=) c.3483G>C (p.Arg1161=) | gnomAD v4 |
19 | g.35733068G= | CA2333794639 | KMT2B | n.825G= c.6453G= (p.Arg2151=) c.4060G= (n.4060G=) c.1737G= (p.Arg579=) n.1672G= c.1740G= (p.Arg580=) c.6061G= c.6519G= (p.Arg2173=) c.705-529G= (n.705-529G=) c.3841G= c.6243G= (p.Arg2081=) c.5955G= (p.Arg1985=) c.3483G= (p.Arg1161=) | |
19 | g.35733068G>T | CA9385708 | KMT2B | n.825G>T c.6453G>T (p.Arg2151=) c.4060G>T (n.4060G>T) c.1737G>T (p.Arg579=) n.1672G>T c.1740G>T (p.Arg580=) c.6061G>T c.6519G>T (p.Arg2173=) c.705-529G>T (n.705-529G>T) c.3841G>T c.6243G>T (p.Arg2081=) c.5955G>T (p.Arg1985=) c.3483G>T (p.Arg1161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733069G>A | CA9385709 | KMT2B | n.826G>A c.6454G>A (p.Val2152Met) c.4061G>A (n.4061G>A) c.1738G>A (p.Val580Met) n.1673G>A c.1741G>A (p.Val581Met) c.6062G>A c.6520G>A (p.Val2174Met) c.705-528G>A (n.705-528G>A) c.3842G>A c.6244G>A (p.Val2082Met) c.5956G>A (p.Val1986Met) c.3484G>A (p.Val1162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733069G>C | CA405429037 | KMT2B | n.826G>C c.6454G>C (p.Val2152Leu) c.4061G>C (n.4061G>C) c.1738G>C (p.Val580Leu) n.1673G>C c.1741G>C (p.Val581Leu) c.6062G>C c.6520G>C (p.Val2174Leu) c.705-528G>C (n.705-528G>C) c.3842G>C c.6244G>C (p.Val2082Leu) c.5956G>C (p.Val1986Leu) c.3484G>C (p.Val1162Leu) | |
19 | g.35733069G= | CA2333794640 | KMT2B | n.826G= c.6454G= (p.Val2152=) c.4061G= (n.4061G=) c.1738G= (p.Val580=) n.1673G= c.1741G= (p.Val581=) c.6062G= c.6520G= (p.Val2174=) c.705-528G= (n.705-528G=) c.3842G= c.6244G= (p.Val2082=) c.5956G= (p.Val1986=) c.3484G= (p.Val1162=) | |
19 | g.35733069G>T | CA405429036 | KMT2B | n.826G>T c.6454G>T (p.Val2152Leu) c.4061G>T (n.4061G>T) c.1738G>T (p.Val580Leu) n.1673G>T c.1741G>T (p.Val581Leu) c.6062G>T c.6520G>T (p.Val2174Leu) c.705-528G>T (n.705-528G>T) c.3842G>T c.6244G>T (p.Val2082Leu) c.5956G>T (p.Val1986Leu) c.3484G>T (p.Val1162Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733070T>A | CA405429043 | KMT2B | n.827T>A c.6455T>A (p.Val2152Glu) c.4062T>A (n.4062T>A) c.1739T>A (p.Val580Glu) n.1674T>A c.1742T>A (p.Val581Glu) c.6063T>A c.6521T>A (p.Val2174Glu) c.705-527T>A (n.705-527T>A) c.3843T>A c.6245T>A (p.Val2082Glu) c.5957T>A (p.Val1986Glu) c.3485T>A (p.Val1162Glu) | |
19 | g.35733070T>C | CA405429046 | KMT2B | n.827T>C c.6455T>C (p.Val2152Ala) c.4062T>C (n.4062T>C) c.1739T>C (p.Val580Ala) n.1674T>C c.1742T>C (p.Val581Ala) c.6063T>C c.6521T>C (p.Val2174Ala) c.705-527T>C (n.705-527T>C) c.3843T>C c.6245T>C (p.Val2082Ala) c.5957T>C (p.Val1986Ala) c.3485T>C (p.Val1162Ala) | |
19 | g.35733070T>G | CA405429048 | KMT2B | n.827T>G c.6455T>G (p.Val2152Gly) c.4062T>G (n.4062T>G) c.1739T>G (p.Val580Gly) n.1674T>G c.1742T>G (p.Val581Gly) c.6063T>G c.6521T>G (p.Val2174Gly) c.705-527T>G (n.705-527T>G) c.3843T>G c.6245T>G (p.Val2082Gly) c.5957T>G (p.Val1986Gly) c.3485T>G (p.Val1162Gly) | gnomAD v4 |
19 | g.35733071G>A | CA507308387 | KMT2B | n.828G>A c.6456G>A (p.Val2152=) c.4063G>A (n.4063G>A) c.1740G>A (p.Val580=) n.1675G>A c.1743G>A (p.Val581=) c.6064G>A c.6522G>A (p.Val2174=) c.705-526G>A (n.705-526G>A) c.3844G>A c.6246G>A (p.Val2082=) c.5958G>A (p.Val1986=) c.3486G>A (p.Val1162=) | |
19 | g.35733071G>C | CA507308388 | KMT2B | n.828G>C c.6456G>C (p.Val2152=) c.4063G>C (n.4063G>C) c.1740G>C (p.Val580=) n.1675G>C c.1743G>C (p.Val581=) c.6064G>C c.6522G>C (p.Val2174=) c.705-526G>C (n.705-526G>C) c.3844G>C c.6246G>C (p.Val2082=) c.5958G>C (p.Val1986=) c.3486G>C (p.Val1162=) | |
19 | g.35733071G= | CA2333794641 | KMT2B | n.828G= c.6456G= (p.Val2152=) c.4063G= (n.4063G=) c.1740G= (p.Val580=) n.1675G= c.1743G= (p.Val581=) c.6064G= c.6522G= (p.Val2174=) c.705-526G= (n.705-526G=) c.3844G= c.6246G= (p.Val2082=) c.5958G= (p.Val1986=) c.3486G= (p.Val1162=) | |
19 | g.35733071G>T | CA507308390 | KMT2B | n.828G>T c.6456G>T (p.Val2152=) c.4063G>T (n.4063G>T) c.1740G>T (p.Val580=) n.1675G>T c.1743G>T (p.Val581=) c.6064G>T c.6522G>T (p.Val2174=) c.705-526G>T (n.705-526G>T) c.3844G>T c.6246G>T (p.Val2082=) c.5958G>T (p.Val1986=) c.3486G>T (p.Val1162=) | dbSNP COSMIC |
19 | g.35733072T>A | CA405429051 | KMT2B | n.829T>A c.6457T>A (p.Leu2153Ile) c.4064T>A (n.4064T>A) c.1741T>A (p.Leu581Ile) n.1676T>A c.1744T>A (p.Leu582Ile) c.6065T>A c.6523T>A (p.Leu2175Ile) c.705-525T>A (n.705-525T>A) c.3845T>A c.6247T>A (p.Leu2083Ile) c.5959T>A (p.Leu1987Ile) c.3487T>A (p.Leu1163Ile) | |
19 | g.35733072T>C | CA507308393 | KMT2B | n.829T>C c.6457T>C (p.Leu2153=) c.4064T>C (n.4064T>C) c.1741T>C (p.Leu581=) n.1676T>C c.1744T>C (p.Leu582=) c.6065T>C c.6523T>C (p.Leu2175=) c.705-525T>C (n.705-525T>C) c.3845T>C c.6247T>C (p.Leu2083=) c.5959T>C (p.Leu1987=) c.3487T>C (p.Leu1163=) | |
19 | g.35733072T>G | CA405429052 | KMT2B | n.829T>G c.6457T>G (p.Leu2153Val) c.4064T>G (n.4064T>G) c.1741T>G (p.Leu581Val) n.1676T>G c.1744T>G (p.Leu582Val) c.6065T>G c.6523T>G (p.Leu2175Val) c.705-525T>G (n.705-525T>G) c.3845T>G c.6247T>G (p.Leu2083Val) c.5959T>G (p.Leu1987Val) c.3487T>G (p.Leu1163Val) | |
19 | g.35733073T>A | CA405429056 | KMT2B | n.830T>A c.6458T>A (p.Leu2153Ter) c.4065T>A (n.4065T>A) c.1742T>A (p.Leu581Ter) n.1677T>A c.1745T>A (p.Leu582Ter) c.6066T>A c.6524T>A (p.Leu2175Ter) c.705-524T>A (n.705-524T>A) c.3846T>A c.6248T>A (p.Leu2083Ter) c.5960T>A (p.Leu1987Ter) c.3488T>A (p.Leu1163Ter) | |
19 | g.35733073T>C | CA9385710 | KMT2B | n.830T>C c.6458T>C (p.Leu2153Ser) c.4065T>C (n.4065T>C) c.1742T>C (p.Leu581Ser) n.1677T>C c.1745T>C (p.Leu582Ser) c.6066T>C c.6524T>C (p.Leu2175Ser) c.705-524T>C (n.705-524T>C) c.3846T>C c.6248T>C (p.Leu2083Ser) c.5960T>C (p.Leu1987Ser) c.3488T>C (p.Leu1163Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733073T>G | CA405429061 | KMT2B | n.830T>G c.6458T>G (p.Leu2153Ter) c.4065T>G (n.4065T>G) c.1742T>G (p.Leu581Ter) n.1677T>G c.1745T>G (p.Leu582Ter) c.6066T>G c.6524T>G (p.Leu2175Ter) c.705-524T>G (n.705-524T>G) c.3846T>G c.6248T>G (p.Leu2083Ter) c.5960T>G (p.Leu1987Ter) c.3488T>G (p.Leu1163Ter) | |
19 | g.35733073T= | CA2333794642 | KMT2B | n.830T= c.6458T= (p.Leu2153=) c.4065T= (n.4065T=) c.1742T= (p.Leu581=) n.1677T= c.1745T= (p.Leu582=) c.6066T= c.6524T= (p.Leu2175=) c.705-524T= (n.705-524T=) c.3846T= c.6248T= (p.Leu2083=) c.5960T= (p.Leu1987=) c.3488T= (p.Leu1163=) | |
19 | g.35733074A= | CA2333794643 | KMT2B | n.831A= c.6459A= (p.Leu2153=) c.4066A= (n.4066A=) c.1743A= (p.Leu581=) n.1678A= c.1746A= (p.Leu582=) c.6067A= c.6525A= (p.Leu2175=) c.705-523A= (n.705-523A=) c.3847A= c.6249A= (p.Leu2083=) c.5961A= (p.Leu1987=) c.3489A= (p.Leu1163=) | |
19 | g.35733074A>C | CA405429065 | KMT2B | n.831A>C c.6459A>C (p.Leu2153Phe) c.4066A>C (n.4066A>C) c.1743A>C (p.Leu581Phe) n.1678A>C c.1746A>C (p.Leu582Phe) c.6067A>C c.6525A>C (p.Leu2175Phe) c.705-523A>C (n.705-523A>C) c.3847A>C c.6249A>C (p.Leu2083Phe) c.5961A>C (p.Leu1987Phe) c.3489A>C (p.Leu1163Phe) | dbSNP gnomAD v4 |
19 | g.35733074A>G | CA507308398 | KMT2B | n.831A>G c.6459A>G (p.Leu2153=) c.4066A>G (n.4066A>G) c.1743A>G (p.Leu581=) n.1678A>G c.1746A>G (p.Leu582=) c.6067A>G c.6525A>G (p.Leu2175=) c.705-523A>G (n.705-523A>G) c.3847A>G c.6249A>G (p.Leu2083=) c.5961A>G (p.Leu1987=) c.3489A>G (p.Leu1163=) | |
19 | g.35733074A>T | CA405429067 | KMT2B | n.831A>T c.6459A>T (p.Leu2153Phe) c.4066A>T (n.4066A>T) c.1743A>T (p.Leu581Phe) n.1678A>T c.1746A>T (p.Leu582Phe) c.6067A>T c.6525A>T (p.Leu2175Phe) c.705-523A>T (n.705-523A>T) c.3847A>T c.6249A>T (p.Leu2083Phe) c.5961A>T (p.Leu1987Phe) c.3489A>T (p.Leu1163Phe) | |
19 | g.35733075A>C | CA405429071 | KMT2B | n.832A>C c.6460A>C (p.Ser2154Arg) c.4067A>C (n.4067A>C) c.1744A>C (p.Ser582Arg) n.1679A>C c.1747A>C (p.Ser583Arg) c.6068A>C c.6526A>C (p.Ser2176Arg) c.705-522A>C (n.705-522A>C) c.3848A>C c.6250A>C (p.Ser2084Arg) c.5962A>C (p.Ser1988Arg) c.3490A>C (p.Ser1164Arg) | |
19 | g.35733075A>G | CA405429074 | KMT2B | n.832A>G c.6460A>G (p.Ser2154Gly) c.4067A>G (n.4067A>G) c.1744A>G (p.Ser582Gly) n.1679A>G c.1747A>G (p.Ser583Gly) c.6068A>G c.6526A>G (p.Ser2176Gly) c.705-522A>G (n.705-522A>G) c.3848A>G c.6250A>G (p.Ser2084Gly) c.5962A>G (p.Ser1988Gly) c.3490A>G (p.Ser1164Gly) | |
19 | g.35733075A>T | CA405429076 | KMT2B | n.832A>T c.6460A>T (p.Ser2154Cys) c.4067A>T (n.4067A>T) c.1744A>T (p.Ser582Cys) n.1679A>T c.1747A>T (p.Ser583Cys) c.6068A>T c.6526A>T (p.Ser2176Cys) c.705-522A>T (n.705-522A>T) c.3848A>T c.6250A>T (p.Ser2084Cys) c.5962A>T (p.Ser1988Cys) c.3490A>T (p.Ser1164Cys) | |
19 | g.35733076G>A | CA405429083 | KMT2B | n.833G>A c.6461G>A (p.Ser2154Asn) c.4068G>A (n.4068G>A) c.1745G>A (p.Ser582Asn) n.1680G>A c.1748G>A (p.Ser583Asn) c.6069G>A c.6527G>A (p.Ser2176Asn) c.705-521G>A (n.705-521G>A) c.3849G>A c.6251G>A (p.Ser2084Asn) c.5963G>A (p.Ser1988Asn) c.3491G>A (p.Ser1164Asn) | |
19 | g.35733076G>C | CA405429087 | KMT2B | n.833G>C c.6461G>C (p.Ser2154Thr) c.4068G>C (n.4068G>C) c.1745G>C (p.Ser582Thr) n.1680G>C c.1748G>C (p.Ser583Thr) c.6069G>C c.6527G>C (p.Ser2176Thr) c.705-521G>C (n.705-521G>C) c.3849G>C c.6251G>C (p.Ser2084Thr) c.5963G>C (p.Ser1988Thr) c.3491G>C (p.Ser1164Thr) | |
19 | g.35733076G>T | CA405429081 | KMT2B | n.833G>T c.6461G>T (p.Ser2154Ile) c.4068G>T (n.4068G>T) c.1745G>T (p.Ser582Ile) n.1680G>T c.1748G>T (p.Ser583Ile) c.6069G>T c.6527G>T (p.Ser2176Ile) c.705-521G>T (n.705-521G>T) c.3849G>T c.6251G>T (p.Ser2084Ile) c.5963G>T (p.Ser1988Ile) c.3491G>T (p.Ser1164Ile) | |
19 | g.35733077C>A | CA405429090 | KMT2B | n.834C>A c.6462C>A (p.Ser2154Arg) c.4069C>A (n.4069C>A) c.1746C>A (p.Ser582Arg) n.1681C>A c.1749C>A (p.Ser583Arg) c.6070C>A c.6528C>A (p.Ser2176Arg) c.705-520C>A (n.705-520C>A) c.3850C>A c.6252C>A (p.Ser2084Arg) c.5964C>A (p.Ser1988Arg) c.3492C>A (p.Ser1164Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733077C= | CA2333794644 | KMT2B | n.834C= c.6462C= (p.Ser2154=) c.4069C= (n.4069C=) c.1746C= (p.Ser582=) n.1681C= c.1749C= (p.Ser583=) c.6070C= c.6528C= (p.Ser2176=) c.705-520C= (n.705-520C=) c.3850C= c.6252C= (p.Ser2084=) c.5964C= (p.Ser1988=) c.3492C= (p.Ser1164=) | |
19 | g.35733077C>G | CA405429093 | KMT2B | n.834C>G c.6462C>G (p.Ser2154Arg) c.4069C>G (n.4069C>G) c.1746C>G (p.Ser582Arg) n.1681C>G c.1749C>G (p.Ser583Arg) c.6070C>G c.6528C>G (p.Ser2176Arg) c.705-520C>G (n.705-520C>G) c.3850C>G c.6252C>G (p.Ser2084Arg) c.5964C>G (p.Ser1988Arg) c.3492C>G (p.Ser1164Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.35733077C>T | CA507308405 | KMT2B | n.834C>T c.6462C>T (p.Ser2154=) c.4069C>T (n.4069C>T) c.1746C>T (p.Ser582=) n.1681C>T c.1749C>T (p.Ser583=) c.6070C>T c.6528C>T (p.Ser2176=) c.705-520C>T (n.705-520C>T) c.3850C>T c.6252C>T (p.Ser2084=) c.5964C>T (p.Ser1988=) c.3492C>T (p.Ser1164=) | gnomAD v4 |
19 | g.35733078C>A | CA405429096 | KMT2B | n.835C>A c.6463C>A (p.Leu2155Ile) c.4070C>A (n.4070C>A) c.1747C>A (p.Leu583Ile) n.1682C>A c.1750C>A (p.Leu584Ile) c.6071C>A c.6529C>A (p.Leu2177Ile) c.705-519C>A (n.705-519C>A) c.3851C>A c.6253C>A (p.Leu2085Ile) c.5965C>A (p.Leu1989Ile) c.3493C>A (p.Leu1165Ile) | |
19 | g.35733078C>G | CA405429099 | KMT2B | n.835C>G c.6463C>G (p.Leu2155Val) c.4070C>G (n.4070C>G) c.1747C>G (p.Leu583Val) n.1682C>G c.1750C>G (p.Leu584Val) c.6071C>G c.6529C>G (p.Leu2177Val) c.705-519C>G (n.705-519C>G) c.3851C>G c.6253C>G (p.Leu2085Val) c.5965C>G (p.Leu1989Val) c.3493C>G (p.Leu1165Val) | gnomAD v4 |
19 | g.35733078C>T | CA405429103 | KMT2B | n.835C>T c.6463C>T (p.Leu2155Phe) c.4070C>T (n.4070C>T) c.1747C>T (p.Leu583Phe) n.1682C>T c.1750C>T (p.Leu584Phe) c.6071C>T c.6529C>T (p.Leu2177Phe) c.705-519C>T (n.705-519C>T) c.3851C>T c.6253C>T (p.Leu2085Phe) c.5965C>T (p.Leu1989Phe) c.3493C>T (p.Leu1165Phe) | |
19 | g.35733079T>A | CA405429107 | KMT2B | n.836T>A c.6464T>A (p.Leu2155His) c.4071T>A (n.4071T>A) c.1748T>A (p.Leu583His) n.1683T>A c.1751T>A (p.Leu584His) c.6072T>A c.6530T>A (p.Leu2177His) c.705-518T>A (n.705-518T>A) c.3852T>A c.6254T>A (p.Leu2085His) c.5966T>A (p.Leu1989His) c.3494T>A (p.Leu1165His) | |
19 | g.35733079T>C | CA405429109 | KMT2B | n.836T>C c.6464T>C (p.Leu2155Pro) c.4071T>C (n.4071T>C) c.1748T>C (p.Leu583Pro) n.1683T>C c.1751T>C (p.Leu584Pro) c.6072T>C c.6530T>C (p.Leu2177Pro) c.705-518T>C (n.705-518T>C) c.3852T>C c.6254T>C (p.Leu2085Pro) c.5966T>C (p.Leu1989Pro) c.3494T>C (p.Leu1165Pro) | |
19 | g.35733079T>G | CA405429112 | KMT2B | n.836T>G c.6464T>G (p.Leu2155Arg) c.4071T>G (n.4071T>G) c.1748T>G (p.Leu583Arg) n.1683T>G c.1751T>G (p.Leu584Arg) c.6072T>G c.6530T>G (p.Leu2177Arg) c.705-518T>G (n.705-518T>G) c.3852T>G c.6254T>G (p.Leu2085Arg) c.5966T>G (p.Leu1989Arg) c.3494T>G (p.Leu1165Arg) | |
19 | g.35733080T>A | CA507308411 | KMT2B | n.837T>A c.6465T>A (p.Leu2155=) c.4072T>A (n.4072T>A) c.1749T>A (p.Leu583=) n.1684T>A c.1752T>A (p.Leu584=) c.6073T>A c.6531T>A (p.Leu2177=) c.705-517T>A (n.705-517T>A) c.3853T>A c.6255T>A (p.Leu2085=) c.5967T>A (p.Leu1989=) c.3495T>A (p.Leu1165=) | |
19 | g.35733080T>C | CA507308419 | KMT2B | n.837T>C c.6465T>C (p.Leu2155=) c.4072T>C (n.4072T>C) c.1749T>C (p.Leu583=) n.1684T>C c.1752T>C (p.Leu584=) c.6073T>C c.6531T>C (p.Leu2177=) c.705-517T>C (n.705-517T>C) c.3853T>C c.6255T>C (p.Leu2085=) c.5967T>C (p.Leu1989=) c.3495T>C (p.Leu1165=) | |
19 | g.35733080T>G | CA507308416 | KMT2B | n.837T>G c.6465T>G (p.Leu2155=) c.4072T>G (n.4072T>G) c.1749T>G (p.Leu583=) n.1684T>G c.1752T>G (p.Leu584=) c.6073T>G c.6531T>G (p.Leu2177=) c.705-517T>G (n.705-517T>G) c.3853T>G c.6255T>G (p.Leu2085=) c.5967T>G (p.Leu1989=) c.3495T>G (p.Leu1165=) | |
19 | g.35733081G>A | CA405429116 | KMT2B | n.838G>A c.6466G>A (p.Gly2156Ser) c.4073G>A (n.4073G>A) c.1750G>A (p.Gly584Ser) n.1685G>A c.1753G>A (p.Gly585Ser) c.6074G>A c.6532G>A (p.Gly2178Ser) c.705-516G>A (n.705-516G>A) c.3854G>A c.6256G>A (p.Gly2086Ser) c.5968G>A (p.Gly1990Ser) c.3496G>A (p.Gly1166Ser) | |
19 | g.35733081G>C | CA405429118 | KMT2B | n.838G>C c.6466G>C (p.Gly2156Arg) c.4073G>C (n.4073G>C) c.1750G>C (p.Gly584Arg) n.1685G>C c.1753G>C (p.Gly585Arg) c.6074G>C c.6532G>C (p.Gly2178Arg) c.705-516G>C (n.705-516G>C) c.3854G>C c.6256G>C (p.Gly2086Arg) c.5968G>C (p.Gly1990Arg) c.3496G>C (p.Gly1166Arg) | |
19 | g.35733081G>T | CA405429121 | KMT2B | n.838G>T c.6466G>T (p.Gly2156Cys) c.4073G>T (n.4073G>T) c.1750G>T (p.Gly584Cys) n.1685G>T c.1753G>T (p.Gly585Cys) c.6074G>T c.6532G>T (p.Gly2178Cys) c.705-516G>T (n.705-516G>T) c.3854G>T c.6256G>T (p.Gly2086Cys) c.5968G>T (p.Gly1990Cys) c.3496G>T (p.Gly1166Cys) | |
19 | g.35733082G>A | CA9385711 | KMT2B | n.839G>A c.6467G>A (p.Gly2156Asp) c.4074G>A (n.4074G>A) c.1751G>A (p.Gly584Asp) n.1686G>A c.1754G>A (p.Gly585Asp) c.6075G>A c.6533G>A (p.Gly2178Asp) c.705-515G>A (n.705-515G>A) c.3855G>A c.6257G>A (p.Gly2086Asp) c.5969G>A (p.Gly1990Asp) c.3497G>A (p.Gly1166Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733082G>C | CA307796945 | KMT2B | n.839G>C c.6467G>C (p.Gly2156Ala) c.4074G>C (n.4074G>C) c.1751G>C (p.Gly584Ala) n.1686G>C c.1754G>C (p.Gly585Ala) c.6075G>C c.6533G>C (p.Gly2178Ala) c.705-515G>C (n.705-515G>C) c.3855G>C c.6257G>C (p.Gly2086Ala) c.5969G>C (p.Gly1990Ala) c.3497G>C (p.Gly1166Ala) | dbSNP |
19 | g.35733082G= | CA2333794645 | KMT2B | n.839G= c.6467G= (p.Gly2156=) c.4074G= (n.4074G=) c.1751G= (p.Gly584=) n.1686G= c.1754G= (p.Gly585=) c.6075G= c.6533G= (p.Gly2178=) c.705-515G= (n.705-515G=) c.3855G= c.6257G= (p.Gly2086=) c.5969G= (p.Gly1990=) c.3497G= (p.Gly1166=) | |
19 | g.35733082G>T | CA405429122 | KMT2B | n.839G>T c.6467G>T (p.Gly2156Val) c.4074G>T (n.4074G>T) c.1751G>T (p.Gly584Val) n.1686G>T c.1754G>T (p.Gly585Val) c.6075G>T c.6533G>T (p.Gly2178Val) c.705-515G>T (n.705-515G>T) c.3855G>T c.6257G>T (p.Gly2086Val) c.5969G>T (p.Gly1990Val) c.3497G>T (p.Gly1166Val) | |
19 | g.35733083C>A | CA507308428 | KMT2B | n.840C>A c.6468C>A (p.Gly2156=) c.4075C>A (n.4075C>A) c.1752C>A (p.Gly584=) n.1687C>A c.1755C>A (p.Gly585=) c.6076C>A c.6534C>A (p.Gly2178=) c.705-514C>A (n.705-514C>A) c.3856C>A c.6258C>A (p.Gly2086=) c.5970C>A (p.Gly1990=) c.3498C>A (p.Gly1166=) | gnomAD v4 |
19 | g.35733083C>G | CA507308430 | KMT2B | n.840C>G c.6468C>G (p.Gly2156=) c.4075C>G (n.4075C>G) c.1752C>G (p.Gly584=) n.1687C>G c.1755C>G (p.Gly585=) c.6076C>G c.6534C>G (p.Gly2178=) c.705-514C>G (n.705-514C>G) c.3856C>G c.6258C>G (p.Gly2086=) c.5970C>G (p.Gly1990=) c.3498C>G (p.Gly1166=) | |
19 | g.35733083C>T | CA507308432 | KMT2B | n.840C>T c.6468C>T (p.Gly2156=) c.4075C>T (n.4075C>T) c.1752C>T (p.Gly584=) n.1687C>T c.1755C>T (p.Gly585=) c.6076C>T c.6534C>T (p.Gly2178=) c.705-514C>T (n.705-514C>T) c.3856C>T c.6258C>T (p.Gly2086=) c.5970C>T (p.Gly1990=) c.3498C>T (p.Gly1166=) | gnomAD v4 |
19 | g.35733084C>A | CA405429129 | KMT2B | n.841C>A c.6469C>A (p.Pro2157Thr) c.4076C>A (n.4076C>A) c.1753C>A (p.Pro585Thr) n.1688C>A c.1756C>A (p.Pro586Thr) c.6077C>A c.6535C>A (p.Pro2179Thr) c.705-513C>A (n.705-513C>A) c.3857C>A c.6259C>A (p.Pro2087Thr) c.5971C>A (p.Pro1991Thr) c.3499C>A (p.Pro1167Thr) | dbSNP gnomAD v4 |
19 | g.35733084C= | CA2333794646 | KMT2B | n.841C= c.6469C= (p.Pro2157=) c.4076C= (n.4076C=) c.1753C= (p.Pro585=) n.1688C= c.1756C= (p.Pro586=) c.6077C= c.6535C= (p.Pro2179=) c.705-513C= (n.705-513C=) c.3857C= c.6259C= (p.Pro2087=) c.5971C= (p.Pro1991=) c.3499C= (p.Pro1167=) | |
19 | g.35733084C>G | CA405429126 | KMT2B | n.841C>G c.6469C>G (p.Pro2157Ala) c.4076C>G (n.4076C>G) c.1753C>G (p.Pro585Ala) n.1688C>G c.1756C>G (p.Pro586Ala) c.6077C>G c.6535C>G (p.Pro2179Ala) c.705-513C>G (n.705-513C>G) c.3857C>G c.6259C>G (p.Pro2087Ala) c.5971C>G (p.Pro1991Ala) c.3499C>G (p.Pro1167Ala) | dbSNP |
19 | g.35733084C>T | CA9385712 | KMT2B | n.841C>T c.6469C>T (p.Pro2157Ser) c.4076C>T (n.4076C>T) c.1753C>T (p.Pro585Ser) n.1688C>T c.1756C>T (p.Pro586Ser) c.6077C>T c.6535C>T (p.Pro2179Ser) c.705-513C>T (n.705-513C>T) c.3857C>T c.6259C>T (p.Pro2087Ser) c.5971C>T (p.Pro1991Ser) c.3499C>T (p.Pro1167Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733085C>A | CA405429133 | KMT2B | n.842C>A c.6470C>A (p.Pro2157His) c.4077C>A (n.4077C>A) c.1754C>A (p.Pro585His) n.1689C>A c.1757C>A (p.Pro586His) c.6078C>A c.6536C>A (p.Pro2179His) c.705-512C>A (n.705-512C>A) c.3858C>A c.6260C>A (p.Pro2087His) c.5972C>A (p.Pro1991His) c.3500C>A (p.Pro1167His) | gnomAD v4 |
19 | g.35733085C>G | CA405429138 | KMT2B | n.842C>G c.6470C>G (p.Pro2157Arg) c.4077C>G (n.4077C>G) c.1754C>G (p.Pro585Arg) n.1689C>G c.1757C>G (p.Pro586Arg) c.6078C>G c.6536C>G (p.Pro2179Arg) c.705-512C>G (n.705-512C>G) c.3858C>G c.6260C>G (p.Pro2087Arg) c.5972C>G (p.Pro1991Arg) c.3500C>G (p.Pro1167Arg) | gnomAD v4 |
19 | g.35733085C>T | CA405429141 | KMT2B | n.842C>T c.6470C>T (p.Pro2157Leu) c.4077C>T (n.4077C>T) c.1754C>T (p.Pro585Leu) n.1689C>T c.1757C>T (p.Pro586Leu) c.6078C>T c.6536C>T (p.Pro2179Leu) c.705-512C>T (n.705-512C>T) c.3858C>T c.6260C>T (p.Pro2087Leu) c.5972C>T (p.Pro1991Leu) c.3500C>T (p.Pro1167Leu) | |
19 | g.35733086T>A | CA507308444 | KMT2B | n.843T>A c.6471T>A (p.Pro2157=) c.4078T>A (n.4078T>A) c.1755T>A (p.Pro585=) n.1690T>A c.1758T>A (p.Pro586=) c.6079T>A c.6537T>A (p.Pro2179=) c.705-511T>A (n.705-511T>A) c.3859T>A c.6261T>A (p.Pro2087=) c.5973T>A (p.Pro1991=) c.3501T>A (p.Pro1167=) | |
19 | g.35733086T>C | CA507308446 | KMT2B | n.843T>C c.6471T>C (p.Pro2157=) c.4078T>C (n.4078T>C) c.1755T>C (p.Pro585=) n.1690T>C c.1758T>C (p.Pro586=) c.6079T>C c.6537T>C (p.Pro2179=) c.705-511T>C (n.705-511T>C) c.3859T>C c.6261T>C (p.Pro2087=) c.5973T>C (p.Pro1991=) c.3501T>C (p.Pro1167=) | dbSNP |
19 | g.35733086T>G | CA9385713 | KMT2B | n.843T>G c.6471T>G (p.Pro2157=) c.4078T>G (n.4078T>G) c.1755T>G (p.Pro585=) n.1690T>G c.1758T>G (p.Pro586=) c.6079T>G c.6537T>G (p.Pro2179=) c.705-511T>G (n.705-511T>G) c.3859T>G c.6261T>G (p.Pro2087=) c.5973T>G (p.Pro1991=) c.3501T>G (p.Pro1167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733086T= | CA2333794647 | KMT2B | n.843T= c.6471T= (p.Pro2157=) c.4078T= (n.4078T=) c.1755T= (p.Pro585=) n.1690T= c.1758T= (p.Pro586=) c.6079T= c.6537T= (p.Pro2179=) c.705-511T= (n.705-511T=) c.3859T= c.6261T= (p.Pro2087=) c.5973T= (p.Pro1991=) c.3501T= (p.Pro1167=) | |
19 | g.35733087G>A | CA405429147 | KMT2B | n.844G>A c.6472G>A (p.Ala2158Thr) c.4079G>A (n.4079G>A) c.1756G>A (p.Ala586Thr) n.1691G>A c.1759G>A (p.Ala587Thr) c.6080G>A c.6538G>A (p.Ala2180Thr) c.705-510G>A (n.705-510G>A) c.3860G>A c.6262G>A (p.Ala2088Thr) c.5974G>A (p.Ala1992Thr) c.3502G>A (p.Ala1168Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.35733087G>C | CA307796959 | KMT2B | n.844G>C c.6472G>C (p.Ala2158Pro) c.4079G>C (n.4079G>C) c.1756G>C (p.Ala586Pro) n.1691G>C c.1759G>C (p.Ala587Pro) c.6080G>C c.6538G>C (p.Ala2180Pro) c.705-510G>C (n.705-510G>C) c.3860G>C c.6262G>C (p.Ala2088Pro) c.5974G>C (p.Ala1992Pro) c.3502G>C (p.Ala1168Pro) | dbSNP COSMIC |
19 | g.35733087G= | CA2333794648 | KMT2B | n.844G= c.6472G= (p.Ala2158=) c.4079G= (n.4079G=) c.1756G= (p.Ala586=) n.1691G= c.1759G= (p.Ala587=) c.6080G= c.6538G= (p.Ala2180=) c.705-510G= (n.705-510G=) c.3860G= c.6262G= (p.Ala2088=) c.5974G= (p.Ala1992=) c.3502G= (p.Ala1168=) | |
19 | g.35733087G>T | CA405429150 | KMT2B | n.844G>T c.6472G>T (p.Ala2158Ser) c.4079G>T (n.4079G>T) c.1756G>T (p.Ala586Ser) n.1691G>T c.1759G>T (p.Ala587Ser) c.6080G>T c.6538G>T (p.Ala2180Ser) c.705-510G>T (n.705-510G>T) c.3860G>T c.6262G>T (p.Ala2088Ser) c.5974G>T (p.Ala1992Ser) c.3502G>T (p.Ala1168Ser) | gnomAD v4 |
19 | g.35733088C>A | CA405429154 | KMT2B | n.845C>A c.6473C>A (p.Ala2158Asp) c.4080C>A (n.4080C>A) c.1757C>A (p.Ala586Asp) n.1692C>A c.1760C>A (p.Ala587Asp) c.6081C>A c.6539C>A (p.Ala2180Asp) c.705-509C>A (n.705-509C>A) c.3861C>A c.6263C>A (p.Ala2088Asp) c.5975C>A (p.Ala1992Asp) c.3503C>A (p.Ala1168Asp) | |
19 | g.35733088C= | CA2333794649 | KMT2B | n.845C= c.6473C= (p.Ala2158=) c.4080C= (n.4080C=) c.1757C= (p.Ala586=) n.1692C= c.1760C= (p.Ala587=) c.6081C= c.6539C= (p.Ala2180=) c.705-509C= (n.705-509C=) c.3861C= c.6263C= (p.Ala2088=) c.5975C= (p.Ala1992=) c.3503C= (p.Ala1168=) | |
19 | g.35733088C>G | CA405429162 | KMT2B | n.845C>G c.6473C>G (p.Ala2158Gly) c.4080C>G (n.4080C>G) c.1757C>G (p.Ala586Gly) n.1692C>G c.1760C>G (p.Ala587Gly) c.6081C>G c.6539C>G (p.Ala2180Gly) c.705-509C>G (n.705-509C>G) c.3861C>G c.6263C>G (p.Ala2088Gly) c.5975C>G (p.Ala1992Gly) c.3503C>G (p.Ala1168Gly) | |
19 | g.35733088C>T | CA307796964 | KMT2B | n.845C>T c.6473C>T (p.Ala2158Val) c.4080C>T (n.4080C>T) c.1757C>T (p.Ala586Val) n.1692C>T c.1760C>T (p.Ala587Val) c.6081C>T c.6539C>T (p.Ala2180Val) c.705-509C>T (n.705-509C>T) c.3861C>T c.6263C>T (p.Ala2088Val) c.5975C>T (p.Ala1992Val) c.3503C>T (p.Ala1168Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733089C>A | CA507308458 | KMT2B | n.846C>A c.6474C>A (p.Ala2158=) c.4081C>A (n.4081C>A) c.1758C>A (p.Ala586=) n.1693C>A c.1761C>A (p.Ala587=) c.6082C>A c.6540C>A (p.Ala2180=) c.705-508C>A (n.705-508C>A) c.3862C>A c.6264C>A (p.Ala2088=) c.5976C>A (p.Ala1992=) c.3504C>A (p.Ala1168=) | |
19 | g.35733089C= | CA2333794650 | KMT2B | n.846C= c.6474C= (p.Ala2158=) c.4081C= (n.4081C=) c.1758C= (p.Ala586=) n.1693C= c.1761C= (p.Ala587=) c.6082C= c.6540C= (p.Ala2180=) c.705-508C= (n.705-508C=) c.3862C= c.6264C= (p.Ala2088=) c.5976C= (p.Ala1992=) c.3504C= (p.Ala1168=) | |
19 | g.35733089C>G | CA307796966 | KMT2B | n.846C>G c.6474C>G (p.Ala2158=) c.4081C>G (n.4081C>G) c.1758C>G (p.Ala586=) n.1693C>G c.1761C>G (p.Ala587=) c.6082C>G c.6540C>G (p.Ala2180=) c.705-508C>G (n.705-508C>G) c.3862C>G c.6264C>G (p.Ala2088=) c.5976C>G (p.Ala1992=) c.3504C>G (p.Ala1168=) | dbSNP |
19 | g.35733089C>T | CA507308457 | KMT2B | n.846C>T c.6474C>T (p.Ala2158=) c.4081C>T (n.4081C>T) c.1758C>T (p.Ala586=) n.1693C>T c.1761C>T (p.Ala587=) c.6082C>T c.6540C>T (p.Ala2180=) c.705-508C>T (n.705-508C>T) c.3862C>T c.6264C>T (p.Ala2088=) c.5976C>T (p.Ala1992=) c.3504C>T (p.Ala1168=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733090C>A | CA405429169 | KMT2B | n.847C>A c.6475C>A (p.Pro2159Thr) c.4082C>A (n.4082C>A) c.1759C>A (p.Pro587Thr) n.1694C>A c.1762C>A (p.Pro588Thr) c.6083C>A c.6541C>A (p.Pro2181Thr) c.705-507C>A (n.705-507C>A) c.3863C>A c.6265C>A (p.Pro2089Thr) c.5977C>A (p.Pro1993Thr) c.3505C>A (p.Pro1169Thr) | |
19 | g.35733090C>G | CA405429170 | KMT2B | n.847C>G c.6475C>G (p.Pro2159Ala) c.4082C>G (n.4082C>G) c.1759C>G (p.Pro587Ala) n.1694C>G c.1762C>G (p.Pro588Ala) c.6083C>G c.6541C>G (p.Pro2181Ala) c.705-507C>G (n.705-507C>G) c.3863C>G c.6265C>G (p.Pro2089Ala) c.5977C>G (p.Pro1993Ala) c.3505C>G (p.Pro1169Ala) | |
19 | g.35733090C>T | CA405429172 | KMT2B | n.847C>T c.6475C>T (p.Pro2159Ser) c.4082C>T (n.4082C>T) c.1759C>T (p.Pro587Ser) n.1694C>T c.1762C>T (p.Pro588Ser) c.6083C>T c.6541C>T (p.Pro2181Ser) c.705-507C>T (n.705-507C>T) c.3863C>T c.6265C>T (p.Pro2089Ser) c.5977C>T (p.Pro1993Ser) c.3505C>T (p.Pro1169Ser) | |
19 | g.35733091C>A | CA405429181 | KMT2B | n.848C>A c.6476C>A (p.Pro2159His) c.4083C>A (n.4083C>A) c.1760C>A (p.Pro587His) n.1695C>A c.1763C>A (p.Pro588His) c.6084C>A c.6542C>A (p.Pro2181His) c.705-506C>A (n.705-506C>A) c.3864C>A c.6266C>A (p.Pro2089His) c.5978C>A (p.Pro1993His) c.3506C>A (p.Pro1169His) | |
19 | g.35733091C>G | CA405429179 | KMT2B | n.848C>G c.6476C>G (p.Pro2159Arg) c.4083C>G (n.4083C>G) c.1760C>G (p.Pro587Arg) n.1695C>G c.1763C>G (p.Pro588Arg) c.6084C>G c.6542C>G (p.Pro2181Arg) c.705-506C>G (n.705-506C>G) c.3864C>G c.6266C>G (p.Pro2089Arg) c.5978C>G (p.Pro1993Arg) c.3506C>G (p.Pro1169Arg) | |
19 | g.35733091C>T | CA405429177 | KMT2B | n.848C>T c.6476C>T (p.Pro2159Leu) c.4083C>T (n.4083C>T) c.1760C>T (p.Pro587Leu) n.1695C>T c.1763C>T (p.Pro588Leu) c.6084C>T c.6542C>T (p.Pro2181Leu) c.705-506C>T (n.705-506C>T) c.3864C>T c.6266C>T (p.Pro2089Leu) c.5978C>T (p.Pro1993Leu) c.3506C>T (p.Pro1169Leu) | gnomAD v4 |
19 | g.35733092T>A | CA507308469 | KMT2B | n.849T>A c.6477T>A (p.Pro2159=) c.4084T>A (n.4084T>A) c.1761T>A (p.Pro587=) n.1696T>A c.1764T>A (p.Pro588=) c.6085T>A c.6543T>A (p.Pro2181=) c.705-505T>A (n.705-505T>A) c.3865T>A c.6267T>A (p.Pro2089=) c.5979T>A (p.Pro1993=) c.3507T>A (p.Pro1169=) | dbSNP |
19 | g.35733092T>C | CA507308471 | KMT2B | n.849T>C c.6477T>C (p.Pro2159=) c.4084T>C (n.4084T>C) c.1761T>C (p.Pro587=) n.1696T>C c.1764T>C (p.Pro588=) c.6085T>C c.6543T>C (p.Pro2181=) c.705-505T>C (n.705-505T>C) c.3865T>C c.6267T>C (p.Pro2089=) c.5979T>C (p.Pro1993=) c.3507T>C (p.Pro1169=) | |
19 | g.35733092T>G | CA507308472 | KMT2B | n.849T>G c.6477T>G (p.Pro2159=) c.4084T>G (n.4084T>G) c.1761T>G (p.Pro587=) n.1696T>G c.1764T>G (p.Pro588=) c.6085T>G c.6543T>G (p.Pro2181=) c.705-505T>G (n.705-505T>G) c.3865T>G c.6267T>G (p.Pro2089=) c.5979T>G (p.Pro1993=) c.3507T>G (p.Pro1169=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733092T= | CA2333794651 | KMT2B | n.849T= c.6477T= (p.Pro2159=) c.4084T= (n.4084T=) c.1761T= (p.Pro587=) n.1696T= c.1764T= (p.Pro588=) c.6085T= c.6543T= (p.Pro2181=) c.705-505T= (n.705-505T=) c.3865T= c.6267T= (p.Pro2089=) c.5979T= (p.Pro1993=) c.3507T= (p.Pro1169=) | |
19 | g.35733093G>A | CA405429191 | KMT2B | n.850G>A c.6478G>A (p.Glu2160Lys) c.4085G>A (n.4085G>A) c.1762G>A (p.Glu588Lys) n.1697G>A c.1765G>A (p.Glu589Lys) c.6086G>A c.6544G>A (p.Glu2182Lys) c.705-504G>A (n.705-504G>A) c.3866G>A c.6268G>A (p.Glu2090Lys) c.5980G>A (p.Glu1994Lys) c.3508G>A (p.Glu1170Lys) | |
19 | g.35733093G>C | CA405429186 | KMT2B | n.850G>C c.6478G>C (p.Glu2160Gln) c.4085G>C (n.4085G>C) c.1762G>C (p.Glu588Gln) n.1697G>C c.1765G>C (p.Glu589Gln) c.6086G>C c.6544G>C (p.Glu2182Gln) c.705-504G>C (n.705-504G>C) c.3866G>C c.6268G>C (p.Glu2090Gln) c.5980G>C (p.Glu1994Gln) c.3508G>C (p.Glu1170Gln) | |
19 | g.35733093G>T | CA405429188 | KMT2B | n.850G>T c.6478G>T (p.Glu2160Ter) c.4085G>T (n.4085G>T) c.1762G>T (p.Glu588Ter) n.1697G>T c.1765G>T (p.Glu589Ter) c.6086G>T c.6544G>T (p.Glu2182Ter) c.705-504G>T (n.705-504G>T) c.3866G>T c.6268G>T (p.Glu2090Ter) c.5980G>T (p.Glu1994Ter) c.3508G>T (p.Glu1170Ter) | |
19 | g.35733094A>C | CA405429193 | KMT2B | n.851A>C c.6479A>C (p.Glu2160Ala) c.4086A>C (n.4086A>C) c.1763A>C (p.Glu588Ala) n.1698A>C c.1766A>C (p.Glu589Ala) c.6087A>C c.6545A>C (p.Glu2182Ala) c.705-503A>C (n.705-503A>C) c.3867A>C c.6269A>C (p.Glu2090Ala) c.5981A>C (p.Glu1994Ala) c.3509A>C (p.Glu1170Ala) | gnomAD v4 |
19 | g.35733094A>G | CA405429196 | KMT2B | n.851A>G c.6479A>G (p.Glu2160Gly) c.4086A>G (n.4086A>G) c.1763A>G (p.Glu588Gly) n.1698A>G c.1766A>G (p.Glu589Gly) c.6087A>G c.6545A>G (p.Glu2182Gly) c.705-503A>G (n.705-503A>G) c.3867A>G c.6269A>G (p.Glu2090Gly) c.5981A>G (p.Glu1994Gly) c.3509A>G (p.Glu1170Gly) | |
19 | g.35733094A>T | CA405429199 | KMT2B | n.851A>T c.6479A>T (p.Glu2160Val) c.4086A>T (n.4086A>T) c.1763A>T (p.Glu588Val) n.1698A>T c.1766A>T (p.Glu589Val) c.6087A>T c.6545A>T (p.Glu2182Val) c.705-503A>T (n.705-503A>T) c.3867A>T c.6269A>T (p.Glu2090Val) c.5981A>T (p.Glu1994Val) c.3509A>T (p.Glu1170Val) | |
19 | g.35733095G>A | CA507308484 | KMT2B | n.852G>A c.6480G>A (p.Glu2160=) c.4087G>A (n.4087G>A) c.1764G>A (p.Glu588=) n.1699G>A c.1767G>A (p.Glu589=) c.6088G>A c.6546G>A (p.Glu2182=) c.705-502G>A (n.705-502G>A) c.3868G>A c.6270G>A (p.Glu2090=) c.5982G>A (p.Glu1994=) c.3510G>A (p.Glu1170=) | |
19 | g.35733095G>C | CA9385715 | KMT2B | n.852G>C c.6480G>C (p.Glu2160Asp) c.4087G>C (n.4087G>C) c.1764G>C (p.Glu588Asp) n.1699G>C c.1767G>C (p.Glu589Asp) c.6088G>C c.6546G>C (p.Glu2182Asp) c.705-502G>C (n.705-502G>C) c.3868G>C c.6270G>C (p.Glu2090Asp) c.5982G>C (p.Glu1994Asp) c.3510G>C (p.Glu1170Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733095G= | CA2333794652 | KMT2B | n.852G= c.6480G= (p.Glu2160=) c.4087G= (n.4087G=) c.1764G= (p.Glu588=) n.1699G= c.1767G= (p.Glu589=) c.6088G= c.6546G= (p.Glu2182=) c.705-502G= (n.705-502G=) c.3868G= c.6270G= (p.Glu2090=) c.5982G= (p.Glu1994=) c.3510G= (p.Glu1170=) | |
19 | g.35733095G>T | CA405429206 | KMT2B | n.852G>T c.6480G>T (p.Glu2160Asp) c.4087G>T (n.4087G>T) c.1764G>T (p.Glu588Asp) n.1699G>T c.1767G>T (p.Glu589Asp) c.6088G>T c.6546G>T (p.Glu2182Asp) c.705-502G>T (n.705-502G>T) c.3868G>T c.6270G>T (p.Glu2090Asp) c.5982G>T (p.Glu1994Asp) c.3510G>T (p.Glu1170Asp) | |
19 | g.35733096C>A | CA9385716 | KMT2B | n.853C>A c.6481C>A (p.Pro2161Thr) c.4088C>A (n.4088C>A) c.1765C>A (p.Pro589Thr) n.1700C>A c.1768C>A (p.Pro590Thr) c.6089C>A c.6547C>A (p.Pro2183Thr) c.705-501C>A (n.705-501C>A) c.3869C>A c.6271C>A (p.Pro2091Thr) c.5983C>A (p.Pro1995Thr) c.3511C>A (p.Pro1171Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733096C= | CA2333794653 | KMT2B | n.853C= c.6481C= (p.Pro2161=) c.4088C= (n.4088C=) c.1765C= (p.Pro589=) n.1700C= c.1768C= (p.Pro590=) c.6089C= c.6547C= (p.Pro2183=) c.705-501C= (n.705-501C=) c.3869C= c.6271C= (p.Pro2091=) c.5983C= (p.Pro1995=) c.3511C= (p.Pro1171=) | |
19 | g.35733096C>G | CA405429216 | KMT2B | n.853C>G c.6481C>G (p.Pro2161Ala) c.4088C>G (n.4088C>G) c.1765C>G (p.Pro589Ala) n.1700C>G c.1768C>G (p.Pro590Ala) c.6089C>G c.6547C>G (p.Pro2183Ala) c.705-501C>G (n.705-501C>G) c.3869C>G c.6271C>G (p.Pro2091Ala) c.5983C>G (p.Pro1995Ala) c.3511C>G (p.Pro1171Ala) | |
19 | g.35733096C>T | CA405429214 | KMT2B | n.853C>T c.6481C>T (p.Pro2161Ser) c.4088C>T (n.4088C>T) c.1765C>T (p.Pro589Ser) n.1700C>T c.1768C>T (p.Pro590Ser) c.6089C>T c.6547C>T (p.Pro2183Ser) c.705-501C>T (n.705-501C>T) c.3869C>T c.6271C>T (p.Pro2091Ser) c.5983C>T (p.Pro1995Ser) c.3511C>T (p.Pro1171Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733101dup | CA9385714 | KMT2B | n.858dup c.6486dup (p.Lys2163GlnfsTer25) c.4093dup (n.4093dup) c.1770dup (p.Lys591GlnfsTer25) n.1705dup c.1773dup (p.Lys592GlnfsTer25) c.6094dup c.6552dup (p.Lys2185GlnfsTer25) c.705-496dup (n.705-496dup) c.3874dup c.6276dup (p.Lys2093GlnfsTer25) c.5988dup (p.Lys1997GlnfsTer25) c.3516dup (p.Lys1173GlnfsTer25) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733101del | CA2584575164 | KMT2B | n.858del c.6486del (p.Lys2163AsnfsTer18) c.4093del (n.4093del) c.1770del (p.Lys591AsnfsTer18) n.1705del c.1773del (p.Lys592AsnfsTer18) c.6094del c.6552del (p.Lys2185AsnfsTer18) c.705-496del (n.705-496del) c.3874del c.6276del (p.Lys2093AsnfsTer18) c.5988del (p.Lys1997AsnfsTer18) c.3516del (p.Lys1173AsnfsTer18) | gnomAD v4 |
19 | g.35733097C>A | CA307796996 | KMT2B | n.854C>A c.6482C>A (p.Pro2161His) c.4089C>A (n.4089C>A) c.1766C>A (p.Pro589His) n.1701C>A c.1769C>A (p.Pro590His) c.6090C>A c.6548C>A (p.Pro2183His) c.705-500C>A (n.705-500C>A) c.3870C>A c.6272C>A (p.Pro2091His) c.5984C>A (p.Pro1995His) c.3512C>A (p.Pro1171His) | dbSNP |
19 | g.35733097C= | CA2333794654 | KMT2B | n.854C= c.6482C= (p.Pro2161=) c.4089C= (n.4089C=) c.1766C= (p.Pro589=) n.1701C= c.1769C= (p.Pro590=) c.6090C= c.6548C= (p.Pro2183=) c.705-500C= (n.705-500C=) c.3870C= c.6272C= (p.Pro2091=) c.5984C= (p.Pro1995=) c.3512C= (p.Pro1171=) | |
19 | g.35733097C>G | CA405429225 | KMT2B | n.854C>G c.6482C>G (p.Pro2161Arg) c.4089C>G (n.4089C>G) c.1766C>G (p.Pro589Arg) n.1701C>G c.1769C>G (p.Pro590Arg) c.6090C>G c.6548C>G (p.Pro2183Arg) c.705-500C>G (n.705-500C>G) c.3870C>G c.6272C>G (p.Pro2091Arg) c.5984C>G (p.Pro1995Arg) c.3512C>G (p.Pro1171Arg) | |
19 | g.35733097C>T | CA405429227 | KMT2B | n.854C>T c.6482C>T (p.Pro2161Leu) c.4089C>T (n.4089C>T) c.1766C>T (p.Pro589Leu) n.1701C>T c.1769C>T (p.Pro590Leu) c.6090C>T c.6548C>T (p.Pro2183Leu) c.705-500C>T (n.705-500C>T) c.3870C>T c.6272C>T (p.Pro2091Leu) c.5984C>T (p.Pro1995Leu) c.3512C>T (p.Pro1171Leu) | |
19 | g.35733098C>A | CA507308497 | KMT2B | n.855C>A c.6483C>A (p.Pro2161=) c.4090C>A (n.4090C>A) c.1767C>A (p.Pro589=) n.1702C>A c.1770C>A (p.Pro590=) c.6091C>A c.6549C>A (p.Pro2183=) c.705-499C>A (n.705-499C>A) c.3871C>A c.6273C>A (p.Pro2091=) c.5985C>A (p.Pro1995=) c.3513C>A (p.Pro1171=) | gnomAD v4 |
19 | g.35733098C= | CA2333794655 | KMT2B | n.855C= c.6483C= (p.Pro2161=) c.4090C= (n.4090C=) c.1767C= (p.Pro589=) n.1702C= c.1770C= (p.Pro590=) c.6091C= c.6549C= (p.Pro2183=) c.705-499C= (n.705-499C=) c.3871C= c.6273C= (p.Pro2091=) c.5985C= (p.Pro1995=) c.3513C= (p.Pro1171=) | |
19 | g.35733098C>G | CA507308498 | KMT2B | n.855C>G c.6483C>G (p.Pro2161=) c.4090C>G (n.4090C>G) c.1767C>G (p.Pro589=) n.1702C>G c.1770C>G (p.Pro590=) c.6091C>G c.6549C>G (p.Pro2183=) c.705-499C>G (n.705-499C>G) c.3871C>G c.6273C>G (p.Pro2091=) c.5985C>G (p.Pro1995=) c.3513C>G (p.Pro1171=) | |
19 | g.35733098C>T | CA507308500 | KMT2B | n.855C>T c.6483C>T (p.Pro2161=) c.4090C>T (n.4090C>T) c.1767C>T (p.Pro589=) n.1702C>T c.1770C>T (p.Pro590=) c.6091C>T c.6549C>T (p.Pro2183=) c.705-499C>T (n.705-499C>T) c.3871C>T c.6273C>T (p.Pro2091=) c.5985C>T (p.Pro1995=) c.3513C>T (p.Pro1171=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733099C>A | CA405429230 | KMT2B | n.856C>A c.6484C>A (p.Pro2162Thr) c.4091C>A (n.4091C>A) c.1768C>A (p.Pro590Thr) n.1703C>A c.1771C>A (p.Pro591Thr) c.6092C>A c.6550C>A (p.Pro2184Thr) c.705-498C>A (n.705-498C>A) c.3872C>A c.6274C>A (p.Pro2092Thr) c.5986C>A (p.Pro1996Thr) c.3514C>A (p.Pro1172Thr) | |
19 | g.35733099C= | CA2333794656 | KMT2B | n.856C= c.6484C= (p.Pro2162=) c.4091C= (n.4091C=) c.1768C= (p.Pro590=) n.1703C= c.1771C= (p.Pro591=) c.6092C= c.6550C= (p.Pro2184=) c.705-498C= (n.705-498C=) c.3872C= c.6274C= (p.Pro2092=) c.5986C= (p.Pro1996=) c.3514C= (p.Pro1172=) | |
19 | g.35733099C>G | CA405429236 | KMT2B | n.856C>G c.6484C>G (p.Pro2162Ala) c.4091C>G (n.4091C>G) c.1768C>G (p.Pro590Ala) n.1703C>G c.1771C>G (p.Pro591Ala) c.6092C>G c.6550C>G (p.Pro2184Ala) c.705-498C>G (n.705-498C>G) c.3872C>G c.6274C>G (p.Pro2092Ala) c.5986C>G (p.Pro1996Ala) c.3514C>G (p.Pro1172Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733099C>T | CA405429233 | KMT2B | n.856C>T c.6484C>T (p.Pro2162Ser) c.4091C>T (n.4091C>T) c.1768C>T (p.Pro590Ser) n.1703C>T c.1771C>T (p.Pro591Ser) c.6092C>T c.6550C>T (p.Pro2184Ser) c.705-498C>T (n.705-498C>T) c.3872C>T c.6274C>T (p.Pro2092Ser) c.5986C>T (p.Pro1996Ser) c.3514C>T (p.Pro1172Ser) | gnomAD v4 |
19 | g.35733100C>A | CA405429240 | KMT2B | n.857C>A c.6485C>A (p.Pro2162His) c.4092C>A (n.4092C>A) c.1769C>A (p.Pro590His) n.1704C>A c.1772C>A (p.Pro591His) c.6093C>A c.6551C>A (p.Pro2184His) c.705-497C>A (n.705-497C>A) c.3873C>A c.6275C>A (p.Pro2092His) c.5987C>A (p.Pro1996His) c.3515C>A (p.Pro1172His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733100C= | CA2333794657 | KMT2B | n.857C= c.6485C= (p.Pro2162=) c.4092C= (n.4092C=) c.1769C= (p.Pro590=) n.1704C= c.1772C= (p.Pro591=) c.6093C= c.6551C= (p.Pro2184=) c.705-497C= (n.705-497C=) c.3873C= c.6275C= (p.Pro2092=) c.5987C= (p.Pro1996=) c.3515C= (p.Pro1172=) | |
19 | g.35733100C>G | CA9385717 | KMT2B | n.857C>G c.6485C>G (p.Pro2162Arg) c.4092C>G (n.4092C>G) c.1769C>G (p.Pro590Arg) n.1704C>G c.1772C>G (p.Pro591Arg) c.6093C>G c.6551C>G (p.Pro2184Arg) c.705-497C>G (n.705-497C>G) c.3873C>G c.6275C>G (p.Pro2092Arg) c.5987C>G (p.Pro1996Arg) c.3515C>G (p.Pro1172Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.35733100C>T | CA405429245 | KMT2B | n.857C>T c.6485C>T (p.Pro2162Leu) c.4092C>T (n.4092C>T) c.1769C>T (p.Pro590Leu) n.1704C>T c.1772C>T (p.Pro591Leu) c.6093C>T c.6551C>T (p.Pro2184Leu) c.705-497C>T (n.705-497C>T) c.3873C>T c.6275C>T (p.Pro2092Leu) c.5987C>T (p.Pro1996Leu) c.3515C>T (p.Pro1172Leu) | |
19 | g.35733101C>A | CA307797012 | KMT2B | n.858C>A c.6486C>A (p.Pro2162=) c.4093C>A (n.4093C>A) c.1770C>A (p.Pro590=) n.1705C>A c.1773C>A (p.Pro591=) c.6094C>A c.6552C>A (p.Pro2184=) c.705-496C>A (n.705-496C>A) c.3874C>A c.6276C>A (p.Pro2092=) c.5988C>A (p.Pro1996=) c.3516C>A (p.Pro1172=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733101C= | CA2333794658 | KMT2B | n.858C= c.6486C= (p.Pro2162=) c.4093C= (n.4093C=) c.1770C= (p.Pro590=) n.1705C= c.1773C= (p.Pro591=) c.6094C= c.6552C= (p.Pro2184=) c.705-496C= (n.705-496C=) c.3874C= c.6276C= (p.Pro2092=) c.5988C= (p.Pro1996=) c.3516C= (p.Pro1172=) | |
19 | g.35733101C>G | CA507308503 | KMT2B | n.858C>G c.6486C>G (p.Pro2162=) c.4093C>G (n.4093C>G) c.1770C>G (p.Pro590=) n.1705C>G c.1773C>G (p.Pro591=) c.6094C>G c.6552C>G (p.Pro2184=) c.705-496C>G (n.705-496C>G) c.3874C>G c.6276C>G (p.Pro2092=) c.5988C>G (p.Pro1996=) c.3516C>G (p.Pro1172=) | |
19 | g.35733101C>T | CA507308509 | KMT2B | n.858C>T c.6486C>T (p.Pro2162=) c.4093C>T (n.4093C>T) c.1770C>T (p.Pro590=) n.1705C>T c.1773C>T (p.Pro591=) c.6094C>T c.6552C>T (p.Pro2184=) c.705-496C>T (n.705-496C>T) c.3874C>T c.6276C>T (p.Pro2092=) c.5988C>T (p.Pro1996=) c.3516C>T (p.Pro1172=) | |
19 | g.35733101_35733104delinsCAAA | CA2333794659 | KMT2B | n.858_861delinsCAAA c.6486_6489delinsCAAA (p.Pro2162=) c.4093_4096delinsCAAA (n.4093_4096delinsCAAA) c.1770_1773delinsCAAA (p.Pro590=) n.1705_1708delinsCAAA c.1773_1776delinsCAAA (p.Pro591=) c.6094_6097delinsCAAA c.6552_6555delinsCAAA (p.Pro2184=) c.705-496_705-493delinsCAAA (n.705-496_705-493delinsCAAA) c.3874_3877delinsCAAA c.6276_6279delinsCAAA (p.Pro2092=) c.5988_5991delinsCAAA (p.Pro1996=) c.3516_3519delinsCAAA (p.Pro1172=) | |
19 | g.35733102A>C | CA405429248 | KMT2B | n.859A>C c.6487A>C (p.Lys2163Gln) c.4094A>C (n.4094A>C) c.1771A>C (p.Lys591Gln) n.1706A>C c.1774A>C (p.Lys592Gln) c.6095A>C c.6553A>C (p.Lys2185Gln) c.705-495A>C (n.705-495A>C) c.3875A>C c.6277A>C (p.Lys2093Gln) c.5989A>C (p.Lys1997Gln) c.3517A>C (p.Lys1173Gln) | |
19 | g.35733102A>G | CA405429249 | KMT2B | n.859A>G c.6487A>G (p.Lys2163Glu) c.4094A>G (n.4094A>G) c.1771A>G (p.Lys591Glu) n.1706A>G c.1774A>G (p.Lys592Glu) c.6095A>G c.6553A>G (p.Lys2185Glu) c.705-495A>G (n.705-495A>G) c.3875A>G c.6277A>G (p.Lys2093Glu) c.5989A>G (p.Lys1997Glu) c.3517A>G (p.Lys1173Glu) | |
19 | g.35733102A>T | CA405429252 | KMT2B | n.859A>T c.6487A>T (p.Lys2163Ter) c.4094A>T (n.4094A>T) c.1771A>T (p.Lys591Ter) n.1706A>T c.1774A>T (p.Lys592Ter) c.6095A>T c.6553A>T (p.Lys2185Ter) c.705-495A>T (n.705-495A>T) c.3875A>T c.6277A>T (p.Lys2093Ter) c.5989A>T (p.Lys1997Ter) c.3517A>T (p.Lys1173Ter) | |
19 | g.35733102_35733104del | CA507308512 | KMT2B | n.859_861del c.6487_6489del (p.Lys2163del) c.4094_4096del (n.4094_4096del) c.1771_1773del (p.Lys591del) n.1706_1708del c.1774_1776del (p.Lys592del) c.6095_6097del c.6553_6555del (p.Lys2185del) c.705-495_705-493del (n.705-495_705-493del) c.3875_3877del c.6277_6279del (p.Lys2093del) c.5989_5991del (p.Lys1997del) c.3517_3519del (p.Lys1173del) | dbSNP |
19 | g.35733103A= | CA2333794660 | KMT2B | n.860A= c.6488A= (p.Lys2163=) c.4095A= (n.4095A=) c.1772A= (p.Lys591=) n.1707A= c.1775A= (p.Lys592=) c.6096A= c.6554A= (p.Lys2185=) c.705-494A= (n.705-494A=) c.3876A= c.6278A= (p.Lys2093=) c.5990A= (p.Lys1997=) c.3518A= (p.Lys1173=) | |
19 | g.35733103A>C | CA405429256 | KMT2B | n.860A>C c.6488A>C (p.Lys2163Thr) c.4095A>C (n.4095A>C) c.1772A>C (p.Lys591Thr) n.1707A>C c.1775A>C (p.Lys592Thr) c.6096A>C c.6554A>C (p.Lys2185Thr) c.705-494A>C (n.705-494A>C) c.3876A>C c.6278A>C (p.Lys2093Thr) c.5990A>C (p.Lys1997Thr) c.3518A>C (p.Lys1173Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733103A>G | CA405429257 | KMT2B | n.860A>G c.6488A>G (p.Lys2163Arg) c.4095A>G (n.4095A>G) c.1772A>G (p.Lys591Arg) n.1707A>G c.1775A>G (p.Lys592Arg) c.6096A>G c.6554A>G (p.Lys2185Arg) c.705-494A>G (n.705-494A>G) c.3876A>G c.6278A>G (p.Lys2093Arg) c.5990A>G (p.Lys1997Arg) c.3518A>G (p.Lys1173Arg) | |
19 | g.35733103A>T | CA405429260 | KMT2B | n.860A>T c.6488A>T (p.Lys2163Ile) c.4095A>T (n.4095A>T) c.1772A>T (p.Lys591Ile) n.1707A>T c.1775A>T (p.Lys592Ile) c.6096A>T c.6554A>T (p.Lys2185Ile) c.705-494A>T (n.705-494A>T) c.3876A>T c.6278A>T (p.Lys2093Ile) c.5990A>T (p.Lys1997Ile) c.3518A>T (p.Lys1173Ile) | |
19 | g.35733103_35733105del | CA405429263 | KMT2B | n.860_862del c.6488_6490del (p.Lys2163_Pro2164delinsThr) c.4095_4097del (n.4095_4097del) c.1772_1774del (p.Lys591_Pro592delinsThr) n.1707_1709del c.1775_1777del (p.Lys592_Pro593delinsThr) c.6096_6098del c.6554_6556del (p.Lys2185_Pro2186delinsThr) c.705-494_705-492del (n.705-494_705-492del) c.3876_3878del c.6278_6280del (p.Lys2093_Pro2094delinsThr) c.5990_5992del (p.Lys1997_Pro1998delinsThr) c.3518_3520del (p.Lys1173_Pro1174delinsThr) | |
19 | g.35733104A= | CA2333794661 | KMT2B | n.861A= c.6489A= (p.Lys2163=) c.4096A= (n.4096A=) c.1773A= (p.Lys591=) n.1708A= c.1776A= (p.Lys592=) c.6097A= c.6555A= (p.Lys2185=) c.705-493A= (n.705-493A=) c.3877A= c.6279A= (p.Lys2093=) c.5991A= (p.Lys1997=) c.3519A= (p.Lys1173=) | |
19 | g.35733104A>C | CA9385719 | KMT2B | n.861A>C c.6489A>C (p.Lys2163Asn) c.4096A>C (n.4096A>C) c.1773A>C (p.Lys591Asn) n.1708A>C c.1776A>C (p.Lys592Asn) c.6097A>C c.6555A>C (p.Lys2185Asn) c.705-493A>C (n.705-493A>C) c.3877A>C c.6279A>C (p.Lys2093Asn) c.5991A>C (p.Lys1997Asn) c.3519A>C (p.Lys1173Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733104A>G | CA507308519 | KMT2B | n.861A>G c.6489A>G (p.Lys2163=) c.4096A>G (n.4096A>G) c.1773A>G (p.Lys591=) n.1708A>G c.1776A>G (p.Lys592=) c.6097A>G c.6555A>G (p.Lys2185=) c.705-493A>G (n.705-493A>G) c.3877A>G c.6279A>G (p.Lys2093=) c.5991A>G (p.Lys1997=) c.3519A>G (p.Lys1173=) | |
19 | g.35733104A>T | CA405429268 | KMT2B | n.861A>T c.6489A>T (p.Lys2163Asn) c.4096A>T (n.4096A>T) c.1773A>T (p.Lys591Asn) n.1708A>T c.1776A>T (p.Lys592Asn) c.6097A>T c.6555A>T (p.Lys2185Asn) c.705-493A>T (n.705-493A>T) c.3877A>T c.6279A>T (p.Lys2093Asn) c.5991A>T (p.Lys1997Asn) c.3519A>T (p.Lys1173Asn) | |
19 | g.35733104_35733105insAC | CA307797021 | KMT2B | n.861_862insAC c.6489_6490insAC (p.Pro2164ThrfsTer18) c.4096_4097insAC (n.4096_4097insAC) c.1773_1774insAC (p.Pro592ThrfsTer18) n.1708_1709insAC c.1776_1777insAC (p.Pro593ThrfsTer18) c.6097_6098insAC c.6555_6556insAC (p.Pro2186ThrfsTer18) c.705-493_705-492insAC (n.705-493_705-492insAC) c.3877_3878insAC c.6279_6280insAC (p.Pro2094ThrfsTer18) c.5991_5992insAC (p.Pro1998ThrfsTer18) c.3519_3520insAC (p.Pro1174ThrfsTer18) | dbSNP |
19 | g.35733105C>A | CA405429279 | KMT2B | n.862C>A c.6490C>A (p.Pro2164Thr) c.4097C>A (n.4097C>A) c.1774C>A (p.Pro592Thr) n.1709C>A c.1777C>A (p.Pro593Thr) c.6098C>A c.6556C>A (p.Pro2186Thr) c.705-492C>A (n.705-492C>A) c.3878C>A c.6280C>A (p.Pro2094Thr) c.5992C>A (p.Pro1998Thr) c.3520C>A (p.Pro1174Thr) | gnomAD v4 |
19 | g.35733105C= | CA2333794662 | KMT2B | n.862C= c.6490C= (p.Pro2164=) c.4097C= (n.4097C=) c.1774C= (p.Pro592=) n.1709C= c.1777C= (p.Pro593=) c.6098C= c.6556C= (p.Pro2186=) c.705-492C= (n.705-492C=) c.3878C= c.6280C= (p.Pro2094=) c.5992C= (p.Pro1998=) c.3520C= (p.Pro1174=) | |
19 | g.35733105C>G | CA405429273 | KMT2B | n.862C>G c.6490C>G (p.Pro2164Ala) c.4097C>G (n.4097C>G) c.1774C>G (p.Pro592Ala) n.1709C>G c.1777C>G (p.Pro593Ala) c.6098C>G c.6556C>G (p.Pro2186Ala) c.705-492C>G (n.705-492C>G) c.3878C>G c.6280C>G (p.Pro2094Ala) c.5992C>G (p.Pro1998Ala) c.3520C>G (p.Pro1174Ala) | ClinVar dbSNP gnomAD v4 |
19 | g.35733105C>T | CA405429275 | KMT2B | n.862C>T c.6490C>T (p.Pro2164Ser) c.4097C>T (n.4097C>T) c.1774C>T (p.Pro592Ser) n.1709C>T c.1777C>T (p.Pro593Ser) c.6098C>T c.6556C>T (p.Pro2186Ser) c.705-492C>T (n.705-492C>T) c.3878C>T c.6280C>T (p.Pro2094Ser) c.5992C>T (p.Pro1998Ser) c.3520C>T (p.Pro1174Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733107dup | CA9385718 | KMT2B | n.864dup c.6492dup (p.Ala2165ArgfsTer23) c.4099dup (n.4099dup) c.1776dup (p.Ala593ArgfsTer23) n.1711dup c.1779dup (p.Ala594ArgfsTer23) c.6100dup c.6558dup (p.Ala2187ArgfsTer23) c.705-490dup (n.705-490dup) c.3880dup c.6282dup (p.Ala2095ArgfsTer23) c.5994dup (p.Ala1999ArgfsTer23) c.3522dup (p.Ala1175ArgfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35733106C>A | CA405429282 | KMT2B | n.863C>A c.6491C>A (p.Pro2164His) c.4098C>A (n.4098C>A) c.1775C>A (p.Pro592His) n.1710C>A c.1778C>A (p.Pro593His) c.6099C>A c.6557C>A (p.Pro2186His) c.705-491C>A (n.705-491C>A) c.3879C>A c.6281C>A (p.Pro2094His) c.5993C>A (p.Pro1998His) c.3521C>A (p.Pro1174His) | gnomAD v4 |
19 | g.35733106C= | CA2333794663 | KMT2B | n.863C= c.6491C= (p.Pro2164=) c.4098C= (n.4098C=) c.1775C= (p.Pro592=) n.1710C= c.1778C= (p.Pro593=) c.6099C= c.6557C= (p.Pro2186=) c.705-491C= (n.705-491C=) c.3879C= c.6281C= (p.Pro2094=) c.5993C= (p.Pro1998=) c.3521C= (p.Pro1174=) | |
19 | g.35733106C>G | CA405429284 | KMT2B | n.863C>G c.6491C>G (p.Pro2164Arg) c.4098C>G (n.4098C>G) c.1775C>G (p.Pro592Arg) n.1710C>G c.1778C>G (p.Pro593Arg) c.6099C>G c.6557C>G (p.Pro2186Arg) c.705-491C>G (n.705-491C>G) c.3879C>G c.6281C>G (p.Pro2094Arg) c.5993C>G (p.Pro1998Arg) c.3521C>G (p.Pro1174Arg) | |
19 | g.35733106C>T | CA405429285 | KMT2B | n.863C>T c.6491C>T (p.Pro2164Leu) c.4098C>T (n.4098C>T) c.1775C>T (p.Pro592Leu) n.1710C>T c.1778C>T (p.Pro593Leu) c.6099C>T c.6557C>T (p.Pro2186Leu) c.705-491C>T (n.705-491C>T) c.3879C>T c.6281C>T (p.Pro2094Leu) c.5993C>T (p.Pro1998Leu) c.3521C>T (p.Pro1174Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733107C>A | CA507308544 | KMT2B | n.864C>A c.6492C>A (p.Pro2164=) c.4099C>A (n.4099C>A) c.1776C>A (p.Pro592=) n.1711C>A c.1779C>A (p.Pro593=) c.6100C>A c.6558C>A (p.Pro2186=) c.705-490C>A (n.705-490C>A) c.3880C>A c.6282C>A (p.Pro2094=) c.5994C>A (p.Pro1998=) c.3522C>A (p.Pro1174=) | |
19 | g.35733107C= | CA2333794664 | KMT2B | n.864C= c.6492C= (p.Pro2164=) c.4099C= (n.4099C=) c.1776C= (p.Pro592=) n.1711C= c.1779C= (p.Pro593=) c.6100C= c.6558C= (p.Pro2186=) c.705-490C= (n.705-490C=) c.3880C= c.6282C= (p.Pro2094=) c.5994C= (p.Pro1998=) c.3522C= (p.Pro1174=) | |
19 | g.35733107C>G | CA507308545 | KMT2B | n.864C>G c.6492C>G (p.Pro2164=) c.4099C>G (n.4099C>G) c.1776C>G (p.Pro592=) n.1711C>G c.1779C>G (p.Pro593=) c.6100C>G c.6558C>G (p.Pro2186=) c.705-490C>G (n.705-490C>G) c.3880C>G c.6282C>G (p.Pro2094=) c.5994C>G (p.Pro1998=) c.3522C>G (p.Pro1174=) | |
19 | g.35733107C>T | CA9385720 | KMT2B | n.864C>T c.6492C>T (p.Pro2164=) c.4099C>T (n.4099C>T) c.1776C>T (p.Pro592=) n.1711C>T c.1779C>T (p.Pro593=) c.6100C>T c.6558C>T (p.Pro2186=) c.705-490C>T (n.705-490C>T) c.3880C>T c.6282C>T (p.Pro2094=) c.5994C>T (p.Pro1998=) c.3522C>T (p.Pro1174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733108G>A | CA9385721 | KMT2B | n.865G>A c.6493G>A (p.Ala2165Thr) c.4100G>A (n.4100G>A) c.1777G>A (p.Ala593Thr) n.1712G>A c.1780G>A (p.Ala594Thr) c.6101G>A c.6559G>A (p.Ala2187Thr) c.705-489G>A (n.705-489G>A) c.3881G>A c.6283G>A (p.Ala2095Thr) c.5995G>A (p.Ala1999Thr) c.3523G>A (p.Ala1175Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733108G>C | CA405429291 | KMT2B | n.865G>C c.6493G>C (p.Ala2165Pro) c.4100G>C (n.4100G>C) c.1777G>C (p.Ala593Pro) n.1712G>C c.1780G>C (p.Ala594Pro) c.6101G>C c.6559G>C (p.Ala2187Pro) c.705-489G>C (n.705-489G>C) c.3881G>C c.6283G>C (p.Ala2095Pro) c.5995G>C (p.Ala1999Pro) c.3523G>C (p.Ala1175Pro) | ClinVar gnomAD v4 |
19 | g.35733108G= | CA2333794665 | KMT2B | n.865G= c.6493G= (p.Ala2165=) c.4100G= (n.4100G=) c.1777G= (p.Ala593=) n.1712G= c.1780G= (p.Ala594=) c.6101G= c.6559G= (p.Ala2187=) c.705-489G= (n.705-489G=) c.3881G= c.6283G= (p.Ala2095=) c.5995G= (p.Ala1999=) c.3523G= (p.Ala1175=) | |
19 | g.35733108G>T | CA9385722 | KMT2B | n.865G>T c.6493G>T (p.Ala2165Ser) c.4100G>T (n.4100G>T) c.1777G>T (p.Ala593Ser) n.1712G>T c.1780G>T (p.Ala594Ser) c.6101G>T c.6559G>T (p.Ala2187Ser) c.705-489G>T (n.705-489G>T) c.3881G>T c.6283G>T (p.Ala2095Ser) c.5995G>T (p.Ala1999Ser) c.3523G>T (p.Ala1175Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733109C>A | CA405429294 | KMT2B | n.866C>A c.6494C>A (p.Ala2165Asp) c.4101C>A (n.4101C>A) c.1778C>A (p.Ala593Asp) n.1713C>A c.1781C>A (p.Ala594Asp) c.6102C>A c.6560C>A (p.Ala2187Asp) c.705-488C>A (n.705-488C>A) c.3882C>A c.6284C>A (p.Ala2095Asp) c.5996C>A (p.Ala1999Asp) c.3524C>A (p.Ala1175Asp) | gnomAD v4 |
19 | g.35733109C= | CA2333794666 | KMT2B | n.866C= c.6494C= (p.Ala2165=) c.4101C= (n.4101C=) c.1778C= (p.Ala593=) n.1713C= c.1781C= (p.Ala594=) c.6102C= c.6560C= (p.Ala2187=) c.705-488C= (n.705-488C=) c.3882C= c.6284C= (p.Ala2095=) c.5996C= (p.Ala1999=) c.3524C= (p.Ala1175=) | |
19 | g.35733109C>G | CA405429295 | KMT2B | n.866C>G c.6494C>G (p.Ala2165Gly) c.4101C>G (n.4101C>G) c.1778C>G (p.Ala593Gly) n.1713C>G c.1781C>G (p.Ala594Gly) c.6102C>G c.6560C>G (p.Ala2187Gly) c.705-488C>G (n.705-488C>G) c.3882C>G c.6284C>G (p.Ala2095Gly) c.5996C>G (p.Ala1999Gly) c.3524C>G (p.Ala1175Gly) | gnomAD v4 |
19 | g.35733109C>T | CA307797055 | KMT2B | n.866C>T c.6494C>T (p.Ala2165Val) c.4101C>T (n.4101C>T) c.1778C>T (p.Ala593Val) n.1713C>T c.1781C>T (p.Ala594Val) c.6102C>T c.6560C>T (p.Ala2187Val) c.705-488C>T (n.705-488C>T) c.3882C>T c.6284C>T (p.Ala2095Val) c.5996C>T (p.Ala1999Val) c.3524C>T (p.Ala1175Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733110del | CA2584575165 | KMT2B | n.867del c.6495del (p.Thr2166HisfsTer15) c.4102del (n.4102del) c.1779del (p.Thr594HisfsTer15) n.1714del c.1782del (p.Thr595HisfsTer15) c.6103del c.6561del (p.Thr2188HisfsTer15) c.705-487del (n.705-487del) c.3883del c.6285del (p.Thr2096HisfsTer15) c.5997del (p.Thr2000HisfsTer15) c.3525del (p.Thr1176HisfsTer15) | gnomAD v4 |
19 | g.35733110C>A | CA507308561 | KMT2B | n.867C>A c.6495C>A (p.Ala2165=) c.4102C>A (n.4102C>A) c.1779C>A (p.Ala593=) n.1714C>A c.1782C>A (p.Ala594=) c.6103C>A c.6561C>A (p.Ala2187=) c.705-487C>A (n.705-487C>A) c.3883C>A c.6285C>A (p.Ala2095=) c.5997C>A (p.Ala1999=) c.3525C>A (p.Ala1175=) | gnomAD v4 |
19 | g.35733110C= | CA2333794667 | KMT2B | n.867C= c.6495C= (p.Ala2165=) c.4102C= (n.4102C=) c.1779C= (p.Ala593=) n.1714C= c.1782C= (p.Ala594=) c.6103C= c.6561C= (p.Ala2187=) c.705-487C= (n.705-487C=) c.3883C= c.6285C= (p.Ala2095=) c.5997C= (p.Ala1999=) c.3525C= (p.Ala1175=) | |
19 | g.35733110C>G | CA507308562 | KMT2B | n.867C>G c.6495C>G (p.Ala2165=) c.4102C>G (n.4102C>G) c.1779C>G (p.Ala593=) n.1714C>G c.1782C>G (p.Ala594=) c.6103C>G c.6561C>G (p.Ala2187=) c.705-487C>G (n.705-487C>G) c.3883C>G c.6285C>G (p.Ala2095=) c.5997C>G (p.Ala1999=) c.3525C>G (p.Ala1175=) | |
19 | g.35733110C>T | CA9385723 | KMT2B | n.867C>T c.6495C>T (p.Ala2165=) c.4102C>T (n.4102C>T) c.1779C>T (p.Ala593=) n.1714C>T c.1782C>T (p.Ala594=) c.6103C>T c.6561C>T (p.Ala2187=) c.705-487C>T (n.705-487C>T) c.3883C>T c.6285C>T (p.Ala2095=) c.5997C>T (p.Ala1999=) c.3525C>T (p.Ala1175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |