Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49032979_49033014dup | CA605233624 | KMT2D | c.11697_11732dup (p.Gln3911_Leu3912insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.11706_11741dup (p.Gln3914_Leu3915insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.1257_1292dup (p.Gln431_Leu432insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.3276_3311dup (p.Gln1104_Leu1105insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.11694_11729dup (p.Gln3910_Leu3911insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.3176_3211dup (n.3176_3211dup) c.11703_11738dup (p.Gln3913_Leu3914insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.11685_11720dup (p.Gln3907_Leu3908insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) c.11613_11648dup (p.Gln3883_Leu3884insLeuGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) n.14026_14061dup n.13015_13050dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49032979_49033014del | CA605233625 | KMT2D | c.11697_11732del (p.Leu3900_Gln3911del) c.11706_11741del (p.Leu3903_Gln3914del) c.1257_1292del (p.Leu420_Gln431del) c.3276_3311del (p.Leu1093_Gln1104del) c.11694_11729del (p.Leu3899_Gln3910del) c.3176_3211del (n.3176_3211del) c.11703_11738del (p.Leu3902_Gln3913del) c.11685_11720del (p.Leu3896_Gln3907del) c.11613_11648del (p.Leu3872_Gln3883del) n.14026_14061del n.13015_13050del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033014T>A | CA384716556 | KMT2D | c.11691A>T (p.Leu3897Phe) c.11700A>T (p.Leu3900Phe) c.1251A>T (p.Leu417Phe) c.3270A>T (p.Leu1090Phe) c.11688A>T (p.Leu3896Phe) c.3170A>T (n.3170A>T) c.11697A>T (p.Leu3899Phe) c.11679A>T (p.Leu3893Phe) c.11607A>T (p.Leu3869Phe) n.14020A>T n.13009A>T | dbSNP |
12 | g.49033014T>C | CA479708726 | KMT2D | c.11691A>G (p.Leu3897=) c.11700A>G (p.Leu3900=) c.1251A>G (p.Leu417=) c.3270A>G (p.Leu1090=) c.11688A>G (p.Leu3896=) c.3170A>G (n.3170A>G) c.11697A>G (p.Leu3899=) c.11679A>G (p.Leu3893=) c.11607A>G (p.Leu3869=) n.14020A>G n.13009A>G | |
12 | g.49033014T>G | CA384716560 | KMT2D | c.11691A>C (p.Leu3897Phe) c.11700A>C (p.Leu3900Phe) c.1251A>C (p.Leu417Phe) c.3270A>C (p.Leu1090Phe) c.11688A>C (p.Leu3896Phe) c.3170A>C (n.3170A>C) c.11697A>C (p.Leu3899Phe) c.11679A>C (p.Leu3893Phe) c.11607A>C (p.Leu3869Phe) n.14020A>C n.13009A>C | |
12 | g.49033014dup | CA479708727 | KMT2D | c.11691dup (p.Gln3898ThrfsTer?) c.11700dup (p.Gln3901ThrfsTer?) c.1251dup (p.Gln418ThrfsTer?) c.3270dup (p.Gln1091ThrfsTer?) c.11688dup (p.Gln3897ThrfsTer?) c.3170dup (n.3170dup) c.11697dup (p.Gln3900ThrfsTer?) c.11679dup (p.Gln3894ThrfsTer?) c.11607dup (p.Gln3870ThrfsTer?) n.14020dup n.13009dup | |
12 | g.49033015A= | CA2034946611 | KMT2D | c.11690T= (p.Leu3897=) c.11699T= (p.Leu3900=) c.1250T= (p.Leu417=) c.3269T= (p.Leu1090=) c.11687T= (p.Leu3896=) c.3169T= (n.3169T=) c.11696T= (p.Leu3899=) c.11678T= (p.Leu3893=) c.11606T= (p.Leu3869=) n.14019T= n.13008T= | |
12 | g.49033015A>C | CA384716565 | KMT2D | c.11690T>G (p.Leu3897Ter) c.11699T>G (p.Leu3900Ter) c.1250T>G (p.Leu417Ter) c.3269T>G (p.Leu1090Ter) c.11687T>G (p.Leu3896Ter) c.3169T>G (n.3169T>G) c.11696T>G (p.Leu3899Ter) c.11678T>G (p.Leu3893Ter) c.11606T>G (p.Leu3869Ter) n.14019T>G n.13008T>G | COSMIC COSMIC |
12 | g.49033015A>G | CA384716569 | KMT2D | c.11690T>C (p.Leu3897Ser) c.11699T>C (p.Leu3900Ser) c.1250T>C (p.Leu417Ser) c.3269T>C (p.Leu1090Ser) c.11687T>C (p.Leu3896Ser) c.3169T>C (n.3169T>C) c.11696T>C (p.Leu3899Ser) c.11678T>C (p.Leu3893Ser) c.11606T>C (p.Leu3869Ser) n.14019T>C n.13008T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033015A>T | CA384716578 | KMT2D | c.11690T>A (p.Leu3897Ter) c.11699T>A (p.Leu3900Ter) c.1250T>A (p.Leu417Ter) c.3269T>A (p.Leu1090Ter) c.11687T>A (p.Leu3896Ter) c.3169T>A (n.3169T>A) c.11696T>A (p.Leu3899Ter) c.11678T>A (p.Leu3893Ter) c.11606T>A (p.Leu3869Ter) n.14019T>A n.13008T>A | COSMIC COSMIC |
12 | g.49033016_49033017del | CA2838371996 | KMT2D | c.11689_11690del (p.Leu3897ThrfsTer?) c.11698_11699del (p.Leu3900ThrfsTer?) c.1249_1250del (p.Leu417ThrfsTer?) c.3268_3269del (p.Leu1090ThrfsTer?) c.11686_11687del (p.Leu3896ThrfsTer?) c.3168_3169del (n.3168_3169del) c.11695_11696del (p.Leu3899ThrfsTer?) c.11677_11678del (p.Leu3893ThrfsTer?) c.11605_11606del (p.Leu3869ThrfsTer?) n.14018_14019del n.13007_13008del | |
12 | g.49033016A>C | CA384716582 | KMT2D | c.11689T>G (p.Leu3897Val) c.11698T>G (p.Leu3900Val) c.1249T>G (p.Leu417Val) c.3268T>G (p.Leu1090Val) c.11686T>G (p.Leu3896Val) c.3168T>G (n.3168T>G) c.11695T>G (p.Leu3899Val) c.11677T>G (p.Leu3893Val) c.11605T>G (p.Leu3869Val) n.14018T>G n.13007T>G | |
12 | g.49033016A>G | CA479708733 | KMT2D | c.11689T>C (p.Leu3897=) c.11698T>C (p.Leu3900=) c.1249T>C (p.Leu417=) c.3268T>C (p.Leu1090=) c.11686T>C (p.Leu3896=) c.3168T>C (n.3168T>C) c.11695T>C (p.Leu3899=) c.11677T>C (p.Leu3893=) c.11605T>C (p.Leu3869=) n.14018T>C n.13007T>C | gnomAD v4 |
12 | g.49033016A>T | CA384716584 | KMT2D | c.11689T>A (p.Leu3897Ile) c.11698T>A (p.Leu3900Ile) c.1249T>A (p.Leu417Ile) c.3268T>A (p.Leu1090Ile) c.11686T>A (p.Leu3896Ile) c.3168T>A (n.3168T>A) c.11695T>A (p.Leu3899Ile) c.11677T>A (p.Leu3893Ile) c.11605T>A (p.Leu3869Ile) n.14018T>A n.13007T>A | |
12 | g.49033017A= | CA2034946612 | KMT2D | c.11688T= (p.Ser3896=) c.11697T= (p.Ser3899=) c.1248T= (p.Ser416=) c.3267T= (p.Ser1089=) c.11685T= (p.Ser3895=) c.3167T= (n.3167T=) c.11694T= (p.Ser3898=) c.11676T= (p.Ser3892=) c.11604T= (p.Ser3868=) n.14017T= n.13006T= | |
12 | g.49033017A>C | CA479708738 | KMT2D | c.11688T>G (p.Ser3896=) c.11697T>G (p.Ser3899=) c.1248T>G (p.Ser416=) c.3267T>G (p.Ser1089=) c.11685T>G (p.Ser3895=) c.3167T>G (n.3167T>G) c.11694T>G (p.Ser3898=) c.11676T>G (p.Ser3892=) c.11604T>G (p.Ser3868=) n.14017T>G n.13006T>G | |
12 | g.49033017A>G | CA236639964 | KMT2D | c.11688T>C (p.Ser3896=) c.11697T>C (p.Ser3899=) c.1248T>C (p.Ser416=) c.3267T>C (p.Ser1089=) c.11685T>C (p.Ser3895=) c.3167T>C (n.3167T>C) c.11694T>C (p.Ser3898=) c.11676T>C (p.Ser3892=) c.11604T>C (p.Ser3868=) n.14017T>C n.13006T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033017A>T | CA479708740 | KMT2D | c.11688T>A (p.Ser3896=) c.11697T>A (p.Ser3899=) c.1248T>A (p.Ser416=) c.3267T>A (p.Ser1089=) c.11685T>A (p.Ser3895=) c.3167T>A (n.3167T>A) c.11694T>A (p.Ser3898=) c.11676T>A (p.Ser3892=) c.11604T>A (p.Ser3868=) n.14017T>A n.13006T>A | |
12 | g.49033018G>A | CA384716590 | KMT2D | c.11687C>T (p.Ser3896Phe) c.11696C>T (p.Ser3899Phe) c.1247C>T (p.Ser416Phe) c.3266C>T (p.Ser1089Phe) c.11684C>T (p.Ser3895Phe) c.3166C>T (n.3166C>T) c.11693C>T (p.Ser3898Phe) c.11675C>T (p.Ser3892Phe) c.11603C>T (p.Ser3868Phe) n.14016C>T n.13005C>T | dbSNP |
12 | g.49033018G>C | CA384716588 | KMT2D | c.11687C>G (p.Ser3896Cys) c.11696C>G (p.Ser3899Cys) c.1247C>G (p.Ser416Cys) c.3266C>G (p.Ser1089Cys) c.11684C>G (p.Ser3895Cys) c.3166C>G (n.3166C>G) c.11693C>G (p.Ser3898Cys) c.11675C>G (p.Ser3892Cys) c.11603C>G (p.Ser3868Cys) n.14016C>G n.13005C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033018G= | CA2034946613 | KMT2D | c.11687C= (p.Ser3896=) c.11696C= (p.Ser3899=) c.1247C= (p.Ser416=) c.3266C= (p.Ser1089=) c.11684C= (p.Ser3895=) c.3166C= (n.3166C=) c.11693C= (p.Ser3898=) c.11675C= (p.Ser3892=) c.11603C= (p.Ser3868=) n.14016C= n.13005C= | |
12 | g.49033018G>T | CA384716589 | KMT2D | c.11687C>A (p.Ser3896Tyr) c.11696C>A (p.Ser3899Tyr) c.1247C>A (p.Ser416Tyr) c.3266C>A (p.Ser1089Tyr) c.11684C>A (p.Ser3895Tyr) c.3166C>A (n.3166C>A) c.11693C>A (p.Ser3898Tyr) c.11675C>A (p.Ser3892Tyr) c.11603C>A (p.Ser3868Tyr) n.14016C>A n.13005C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033019A>C | CA384716593 | KMT2D | c.11686T>G (p.Ser3896Ala) c.11695T>G (p.Ser3899Ala) c.1246T>G (p.Ser416Ala) c.3265T>G (p.Ser1089Ala) c.11683T>G (p.Ser3895Ala) c.3165T>G (n.3165T>G) c.11692T>G (p.Ser3898Ala) c.11674T>G (p.Ser3892Ala) c.11602T>G (p.Ser3868Ala) n.14015T>G n.13004T>G | |
12 | g.49033019A>G | CA384716595 | KMT2D | c.11686T>C (p.Ser3896Pro) c.11695T>C (p.Ser3899Pro) c.1246T>C (p.Ser416Pro) c.3265T>C (p.Ser1089Pro) c.11683T>C (p.Ser3895Pro) c.3165T>C (n.3165T>C) c.11692T>C (p.Ser3898Pro) c.11674T>C (p.Ser3892Pro) c.11602T>C (p.Ser3868Pro) n.14015T>C n.13004T>C | dbSNP |
12 | g.49033019A>T | CA384716600 | KMT2D | c.11686T>A (p.Ser3896Thr) c.11695T>A (p.Ser3899Thr) c.1246T>A (p.Ser416Thr) c.3265T>A (p.Ser1089Thr) c.11683T>A (p.Ser3895Thr) c.3165T>A (n.3165T>A) c.11692T>A (p.Ser3898Thr) c.11674T>A (p.Ser3892Thr) c.11602T>A (p.Ser3868Thr) n.14015T>A n.13004T>A | |
12 | g.49033020G>A | CA479708745 | KMT2D | c.11685C>T (p.Gly3895=) c.11694C>T (p.Gly3898=) c.1245C>T (p.Gly415=) c.3264C>T (p.Gly1088=) c.11682C>T (p.Gly3894=) c.3164C>T (n.3164C>T) c.11691C>T (p.Gly3897=) c.11673C>T (p.Gly3891=) c.11601C>T (p.Gly3867=) n.14014C>T n.13003C>T | |
12 | g.49033020G>C | CA479708747 | KMT2D | c.11685C>G (p.Gly3895=) c.11694C>G (p.Gly3898=) c.1245C>G (p.Gly415=) c.3264C>G (p.Gly1088=) c.11682C>G (p.Gly3894=) c.3164C>G (n.3164C>G) c.11691C>G (p.Gly3897=) c.11673C>G (p.Gly3891=) c.11601C>G (p.Gly3867=) n.14014C>G n.13003C>G | |
12 | g.49033020G>T | CA479708749 | KMT2D | c.11685C>A (p.Gly3895=) c.11694C>A (p.Gly3898=) c.1245C>A (p.Gly415=) c.3264C>A (p.Gly1088=) c.11682C>A (p.Gly3894=) c.3164C>A (n.3164C>A) c.11691C>A (p.Gly3897=) c.11673C>A (p.Gly3891=) c.11601C>A (p.Gly3867=) n.14014C>A n.13003C>A | |
12 | g.49033021C>A | CA384716615 | KMT2D | c.11684G>T (p.Gly3895Val) c.11693G>T (p.Gly3898Val) c.1244G>T (p.Gly415Val) c.3263G>T (p.Gly1088Val) c.11681G>T (p.Gly3894Val) c.3163G>T (n.3163G>T) c.11690G>T (p.Gly3897Val) c.11672G>T (p.Gly3891Val) c.11600G>T (p.Gly3867Val) n.14013G>T n.13002G>T | |
12 | g.49033021C>G | CA384716613 | KMT2D | c.11684G>C (p.Gly3895Ala) c.11693G>C (p.Gly3898Ala) c.1244G>C (p.Gly415Ala) c.3263G>C (p.Gly1088Ala) c.11681G>C (p.Gly3894Ala) c.3163G>C (n.3163G>C) c.11690G>C (p.Gly3897Ala) c.11672G>C (p.Gly3891Ala) c.11600G>C (p.Gly3867Ala) n.14013G>C n.13002G>C | |
12 | g.49033021C>T | CA384716604 | KMT2D | c.11684G>A (p.Gly3895Asp) c.11693G>A (p.Gly3898Asp) c.1244G>A (p.Gly415Asp) c.3263G>A (p.Gly1088Asp) c.11681G>A (p.Gly3894Asp) c.3163G>A (n.3163G>A) c.11690G>A (p.Gly3897Asp) c.11672G>A (p.Gly3891Asp) c.11600G>A (p.Gly3867Asp) n.14013G>A n.13002G>A | dbSNP |
12 | g.49033023del | CA2726154259 | KMT2D | c.11684del (p.Gly3895AlafsTer?) c.11693del (p.Gly3898AlafsTer?) c.1244del (p.Gly415AlafsTer?) c.3263del (p.Gly1088AlafsTer?) c.11681del (p.Gly3894AlafsTer?) c.3163del (n.3163del) c.11690del (p.Gly3897AlafsTer?) c.11672del (p.Gly3891AlafsTer?) c.11600del (p.Gly3867AlafsTer?) n.14013del n.13002del | dbSNP |
12 | g.49033022C>A | CA384716634 | KMT2D | c.11683G>T (p.Gly3895Cys) c.11692G>T (p.Gly3898Cys) c.1243G>T (p.Gly415Cys) c.3262G>T (p.Gly1088Cys) c.11680G>T (p.Gly3894Cys) c.3162G>T (n.3162G>T) c.11689G>T (p.Gly3897Cys) c.11671G>T (p.Gly3891Cys) c.11599G>T (p.Gly3867Cys) n.14012G>T n.13001G>T | |
12 | g.49033022C= | CA2034946614 | KMT2D | c.11683G= (p.Gly3895=) c.11692G= (p.Gly3898=) c.1243G= (p.Gly415=) c.3262G= (p.Gly1088=) c.11680G= (p.Gly3894=) c.3162G= (n.3162G=) c.11689G= (p.Gly3897=) c.11671G= (p.Gly3891=) c.11599G= (p.Gly3867=) n.14012G= n.13001G= | |
12 | g.49033022C>G | CA384716635 | KMT2D | c.11683G>C (p.Gly3895Arg) c.11692G>C (p.Gly3898Arg) c.1243G>C (p.Gly415Arg) c.3262G>C (p.Gly1088Arg) c.11680G>C (p.Gly3894Arg) c.3162G>C (n.3162G>C) c.11689G>C (p.Gly3897Arg) c.11671G>C (p.Gly3891Arg) c.11599G>C (p.Gly3867Arg) n.14012G>C n.13001G>C | dbSNP |
12 | g.49033022C>T | CA384716637 | KMT2D | c.11683G>A (p.Gly3895Ser) c.11692G>A (p.Gly3898Ser) c.1243G>A (p.Gly415Ser) c.3262G>A (p.Gly1088Ser) c.11680G>A (p.Gly3894Ser) c.3162G>A (n.3162G>A) c.11689G>A (p.Gly3897Ser) c.11671G>A (p.Gly3891Ser) c.11599G>A (p.Gly3867Ser) n.14012G>A n.13001G>A | gnomAD v4 |
12 | g.49033023C>A | CA384716639 | KMT2D | c.11682G>T (p.Met3894Ile) c.11691G>T (p.Met3897Ile) c.1242G>T (p.Met414Ile) c.3261G>T (p.Met1087Ile) c.11679G>T (p.Met3893Ile) c.3161G>T (n.3161G>T) c.11688G>T (p.Met3896Ile) c.11670G>T (p.Met3890Ile) c.11598G>T (p.Met3866Ile) n.14011G>T n.13000G>T | gnomAD v4 |
12 | g.49033023C>G | CA384716642 | KMT2D | c.11682G>C (p.Met3894Ile) c.11691G>C (p.Met3897Ile) c.1242G>C (p.Met414Ile) c.3261G>C (p.Met1087Ile) c.11679G>C (p.Met3893Ile) c.3161G>C (n.3161G>C) c.11688G>C (p.Met3896Ile) c.11670G>C (p.Met3890Ile) c.11598G>C (p.Met3866Ile) n.14011G>C n.13000G>C | |
12 | g.49033023C>T | CA384716643 | KMT2D | c.11682G>A (p.Met3894Ile) c.11691G>A (p.Met3897Ile) c.1242G>A (p.Met414Ile) c.3261G>A (p.Met1087Ile) c.11679G>A (p.Met3893Ile) c.3161G>A (n.3161G>A) c.11688G>A (p.Met3896Ile) c.11670G>A (p.Met3890Ile) c.11598G>A (p.Met3866Ile) n.14011G>A n.13000G>A | |
12 | g.49033023_49033026dup | CA605233627 | KMT2D | c.11679_11682dup (p.Gly3895HisfsTer?) c.11688_11691dup (p.Gly3898HisfsTer?) c.1239_1242dup (p.Gly415HisfsTer?) c.3258_3261dup (p.Gly1088HisfsTer?) c.11676_11679dup (p.Gly3894HisfsTer?) c.3158_3161dup (n.3158_3161dup) c.11685_11688dup (p.Gly3897HisfsTer?) c.11667_11670dup (p.Gly3891HisfsTer?) c.11595_11598dup (p.Gly3867HisfsTer?) n.14008_14011dup n.12997_13000dup | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033024A= | CA2034946615 | KMT2D | c.11681T= (p.Met3894=) c.11690T= (p.Met3897=) c.1241T= (p.Met414=) c.3260T= (p.Met1087=) c.11678T= (p.Met3893=) c.3160T= (n.3160T=) c.11687T= (p.Met3896=) c.11669T= (p.Met3890=) c.11597T= (p.Met3866=) n.14010T= n.12999T= | |
12 | g.49033024A>C | CA384716650 | KMT2D | c.11681T>G (p.Met3894Arg) c.11690T>G (p.Met3897Arg) c.1241T>G (p.Met414Arg) c.3260T>G (p.Met1087Arg) c.11678T>G (p.Met3893Arg) c.3160T>G (n.3160T>G) c.11687T>G (p.Met3896Arg) c.11669T>G (p.Met3890Arg) c.11597T>G (p.Met3866Arg) n.14010T>G n.12999T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033024A>G | CA384716659 | KMT2D | c.11681T>C (p.Met3894Thr) c.11690T>C (p.Met3897Thr) c.1241T>C (p.Met414Thr) c.3260T>C (p.Met1087Thr) c.11678T>C (p.Met3893Thr) c.3160T>C (n.3160T>C) c.11687T>C (p.Met3896Thr) c.11669T>C (p.Met3890Thr) c.11597T>C (p.Met3866Thr) n.14010T>C n.12999T>C | ClinVar dbSNP gnomAD v4 |
12 | g.49033024A>T | CA384716653 | KMT2D | c.11681T>A (p.Met3894Lys) c.11690T>A (p.Met3897Lys) c.1241T>A (p.Met414Lys) c.3260T>A (p.Met1087Lys) c.11678T>A (p.Met3893Lys) c.3160T>A (n.3160T>A) c.11687T>A (p.Met3896Lys) c.11669T>A (p.Met3890Lys) c.11597T>A (p.Met3866Lys) n.14010T>A n.12999T>A | |
12 | g.49033025T>A | CA384716677 | KMT2D | c.11680A>T (p.Met3894Leu) c.11689A>T (p.Met3897Leu) c.1240A>T (p.Met414Leu) c.3259A>T (p.Met1087Leu) c.11677A>T (p.Met3893Leu) c.3159A>T (n.3159A>T) c.11686A>T (p.Met3896Leu) c.11668A>T (p.Met3890Leu) c.11596A>T (p.Met3866Leu) n.14009A>T n.12998A>T | |
12 | g.49033025T>C | CA384716678 | KMT2D | c.11680A>G (p.Met3894Val) c.11689A>G (p.Met3897Val) c.1240A>G (p.Met414Val) c.3259A>G (p.Met1087Val) c.11677A>G (p.Met3893Val) c.3159A>G (n.3159A>G) c.11686A>G (p.Met3896Val) c.11668A>G (p.Met3890Val) c.11596A>G (p.Met3866Val) n.14009A>G n.12998A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033025T>G | CA384716679 | KMT2D | c.11680A>C (p.Met3894Leu) c.11689A>C (p.Met3897Leu) c.1240A>C (p.Met414Leu) c.3259A>C (p.Met1087Leu) c.11677A>C (p.Met3893Leu) c.3159A>C (n.3159A>C) c.11686A>C (p.Met3896Leu) c.11668A>C (p.Met3890Leu) c.11596A>C (p.Met3866Leu) n.14009A>C n.12998A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033025T= | CA2034946616 | KMT2D | c.11680A= (p.Met3894=) c.11689A= (p.Met3897=) c.1240A= (p.Met414=) c.3259A= (p.Met1087=) c.11677A= (p.Met3893=) c.3159A= (n.3159A=) c.11686A= (p.Met3896=) c.11668A= (p.Met3890=) c.11596A= (p.Met3866=) n.14009A= n.12998A= | |
12 | g.49033025_49033026delinsTG | CA2034946617 | KMT2D | c.11679_11680delinsCA (p.Pro3893=) c.11688_11689delinsCA (p.Pro3896=) c.1239_1240delinsCA (p.Pro413=) c.3258_3259delinsCA (p.Pro1086=) c.11676_11677delinsCA (p.Pro3892=) c.3158_3159delinsCA (n.3158_3159delinsCA) c.11685_11686delinsCA (p.Pro3895=) c.11667_11668delinsCA (p.Pro3889=) c.11595_11596delinsCA (p.Pro3865=) n.14008_14009delinsCA n.12997_12998delinsCA | |
12 | g.49033026G>A | CA479708763 | KMT2D | c.11679C>T (p.Pro3893=) c.11688C>T (p.Pro3896=) c.1239C>T (p.Pro413=) c.3258C>T (p.Pro1086=) c.11676C>T (p.Pro3892=) c.3158C>T (n.3158C>T) c.11685C>T (p.Pro3895=) c.11667C>T (p.Pro3889=) c.11595C>T (p.Pro3865=) n.14008C>T n.12997C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033026G>C | CA479708764 | KMT2D | c.11679C>G (p.Pro3893=) c.11688C>G (p.Pro3896=) c.1239C>G (p.Pro413=) c.3258C>G (p.Pro1086=) c.11676C>G (p.Pro3892=) c.3158C>G (n.3158C>G) c.11685C>G (p.Pro3895=) c.11667C>G (p.Pro3889=) c.11595C>G (p.Pro3865=) n.14008C>G n.12997C>G | |
12 | g.49033026G= | CA2034946618 | KMT2D | c.11679C= (p.Pro3893=) c.11688C= (p.Pro3896=) c.1239C= (p.Pro413=) c.3258C= (p.Pro1086=) c.11676C= (p.Pro3892=) c.3158C= (n.3158C=) c.11685C= (p.Pro3895=) c.11667C= (p.Pro3889=) c.11595C= (p.Pro3865=) n.14008C= n.12997C= | |
12 | g.49033026G>T | CA479708767 | KMT2D | c.11679C>A (p.Pro3893=) c.11688C>A (p.Pro3896=) c.1239C>A (p.Pro413=) c.3258C>A (p.Pro1086=) c.11676C>A (p.Pro3892=) c.3158C>A (n.3158C>A) c.11685C>A (p.Pro3895=) c.11667C>A (p.Pro3889=) c.11595C>A (p.Pro3865=) n.14008C>A n.12997C>A | dbSNP |
12 | g.49033028del | CA1139662674 | KMT2D | c.11679del (p.Met3894TrpfsTer?) c.11688del (p.Met3897TrpfsTer?) c.1239del (p.Met414TrpfsTer?) c.3258del (p.Met1087TrpfsTer?) c.11676del (p.Met3893TrpfsTer?) c.3158del (n.3158del) c.11685del (p.Met3896TrpfsTer?) c.11667del (p.Met3890TrpfsTer?) c.11595del (p.Met3866TrpfsTer?) n.14008del n.12997del | ClinVar dbSNP |
12 | g.49033027G>A | CA384716682 | KMT2D | c.11678C>T (p.Pro3893Leu) c.11687C>T (p.Pro3896Leu) c.1238C>T (p.Pro413Leu) c.3257C>T (p.Pro1086Leu) c.11675C>T (p.Pro3892Leu) c.3157C>T (n.3157C>T) c.11684C>T (p.Pro3895Leu) c.11666C>T (p.Pro3889Leu) c.11594C>T (p.Pro3865Leu) n.14007C>T n.12996C>T | dbSNP |
12 | g.49033027G>C | CA384716685 | KMT2D | c.11678C>G (p.Pro3893Arg) c.11687C>G (p.Pro3896Arg) c.1238C>G (p.Pro413Arg) c.3257C>G (p.Pro1086Arg) c.11675C>G (p.Pro3892Arg) c.3157C>G (n.3157C>G) c.11684C>G (p.Pro3895Arg) c.11666C>G (p.Pro3889Arg) c.11594C>G (p.Pro3865Arg) n.14007C>G n.12996C>G | |
12 | g.49033027G>T | CA384716688 | KMT2D | c.11678C>A (p.Pro3893His) c.11687C>A (p.Pro3896His) c.1238C>A (p.Pro413His) c.3257C>A (p.Pro1086His) c.11675C>A (p.Pro3892His) c.3157C>A (n.3157C>A) c.11684C>A (p.Pro3895His) c.11666C>A (p.Pro3889His) c.11594C>A (p.Pro3865His) n.14007C>A n.12996C>A | |
12 | g.49033028G>A | CA384716689 | KMT2D | c.11677C>T (p.Pro3893Ser) c.11686C>T (p.Pro3896Ser) c.1237C>T (p.Pro413Ser) c.3256C>T (p.Pro1086Ser) c.11674C>T (p.Pro3892Ser) c.3156C>T (n.3156C>T) c.11683C>T (p.Pro3895Ser) c.11665C>T (p.Pro3889Ser) c.11593C>T (p.Pro3865Ser) n.14006C>T n.12995C>T | dbSNP gnomAD v4 |
12 | g.49033028G>C | CA384716692 | KMT2D | c.11677C>G (p.Pro3893Ala) c.11686C>G (p.Pro3896Ala) c.1237C>G (p.Pro413Ala) c.3256C>G (p.Pro1086Ala) c.11674C>G (p.Pro3892Ala) c.3156C>G (n.3156C>G) c.11683C>G (p.Pro3895Ala) c.11665C>G (p.Pro3889Ala) c.11593C>G (p.Pro3865Ala) n.14006C>G n.12995C>G | |
12 | g.49033028G>T | CA384716697 | KMT2D | c.11677C>A (p.Pro3893Thr) c.11686C>A (p.Pro3896Thr) c.1237C>A (p.Pro413Thr) c.3256C>A (p.Pro1086Thr) c.11674C>A (p.Pro3892Thr) c.3156C>A (n.3156C>A) c.11683C>A (p.Pro3895Thr) c.11665C>A (p.Pro3889Thr) c.11593C>A (p.Pro3865Thr) n.14006C>A n.12995C>A | |
12 | g.49033029C>A | CA384716700 | KMT2D | c.11676G>T (p.Gln3892His) c.11685G>T (p.Gln3895His) c.1236G>T (p.Gln412His) c.3255G>T (p.Gln1085His) c.11673G>T (p.Gln3891His) c.3155G>T (n.3155G>T) c.11682G>T (p.Gln3894His) c.11664G>T (p.Gln3888His) c.11592G>T (p.Gln3864His) n.14005G>T n.12994G>T | gnomAD v4 |
12 | g.49033029C>G | CA384716703 | KMT2D | c.11676G>C (p.Gln3892His) c.11685G>C (p.Gln3895His) c.1236G>C (p.Gln412His) c.3255G>C (p.Gln1085His) c.11673G>C (p.Gln3891His) c.3155G>C (n.3155G>C) c.11682G>C (p.Gln3894His) c.11664G>C (p.Gln3888His) c.11592G>C (p.Gln3864His) n.14005G>C n.12994G>C | |
12 | g.49033029C>T | CA479708768 | KMT2D | c.11676G>A (p.Gln3892=) c.11685G>A (p.Gln3895=) c.1236G>A (p.Gln412=) c.3255G>A (p.Gln1085=) c.11673G>A (p.Gln3891=) c.3155G>A (n.3155G>A) c.11682G>A (p.Gln3894=) c.11664G>A (p.Gln3888=) c.11592G>A (p.Gln3864=) n.14005G>A n.12994G>A | |
12 | g.49033030T>A | CA384716717 | KMT2D | c.11675A>T (p.Gln3892Leu) c.11684A>T (p.Gln3895Leu) c.1235A>T (p.Gln412Leu) c.3254A>T (p.Gln1085Leu) c.11672A>T (p.Gln3891Leu) c.3154A>T (n.3154A>T) c.11681A>T (p.Gln3894Leu) c.11663A>T (p.Gln3888Leu) c.11591A>T (p.Gln3864Leu) n.14004A>T n.12993A>T | dbSNP |
12 | g.49033030T>C | CA384716709 | KMT2D | c.11675A>G (p.Gln3892Arg) c.11684A>G (p.Gln3895Arg) c.1235A>G (p.Gln412Arg) c.3254A>G (p.Gln1085Arg) c.11672A>G (p.Gln3891Arg) c.3154A>G (n.3154A>G) c.11681A>G (p.Gln3894Arg) c.11663A>G (p.Gln3888Arg) c.11591A>G (p.Gln3864Arg) n.14004A>G n.12993A>G | |
12 | g.49033030T>G | CA384716707 | KMT2D | c.11675A>C (p.Gln3892Pro) c.11684A>C (p.Gln3895Pro) c.1235A>C (p.Gln412Pro) c.3254A>C (p.Gln1085Pro) c.11672A>C (p.Gln3891Pro) c.3154A>C (n.3154A>C) c.11681A>C (p.Gln3894Pro) c.11663A>C (p.Gln3888Pro) c.11591A>C (p.Gln3864Pro) n.14004A>C n.12993A>C | gnomAD v4 |
12 | g.49033030dup | CA2580085622 | KMT2D | c.11675dup (p.Pro3893AlafsTer?) c.11684dup (p.Pro3896AlafsTer?) c.1235dup (p.Pro413AlafsTer?) c.3254dup (p.Pro1086AlafsTer?) c.11672dup (p.Pro3892AlafsTer?) c.3154dup (n.3154dup) c.11681dup (p.Pro3895AlafsTer?) c.11663dup (p.Pro3889AlafsTer?) c.11591dup (p.Pro3865AlafsTer?) n.14004dup n.12993dup | ClinVar |
12 | g.49033031G>A | CA384716721 | KMT2D | c.11674C>T (p.Gln3892Ter) c.11683C>T (p.Gln3895Ter) c.1234C>T (p.Gln412Ter) c.3253C>T (p.Gln1085Ter) c.11671C>T (p.Gln3891Ter) c.3153C>T (n.3153C>T) c.11680C>T (p.Gln3894Ter) c.11662C>T (p.Gln3888Ter) c.11590C>T (p.Gln3864Ter) n.14003C>T n.12992C>T | ClinVar COSMIC COSMIC |
12 | g.49033031G>C | CA384716727 | KMT2D | c.11674C>G (p.Gln3892Glu) c.11683C>G (p.Gln3895Glu) c.1234C>G (p.Gln412Glu) c.3253C>G (p.Gln1085Glu) c.11671C>G (p.Gln3891Glu) c.3153C>G (n.3153C>G) c.11680C>G (p.Gln3894Glu) c.11662C>G (p.Gln3888Glu) c.11590C>G (p.Gln3864Glu) n.14003C>G n.12992C>G | ClinVar dbSNP |
12 | g.49033031G>T | CA384716730 | KMT2D | c.11674C>A (p.Gln3892Lys) c.11683C>A (p.Gln3895Lys) c.1234C>A (p.Gln412Lys) c.3253C>A (p.Gln1085Lys) c.11671C>A (p.Gln3891Lys) c.3153C>A (n.3153C>A) c.11680C>A (p.Gln3894Lys) c.11662C>A (p.Gln3888Lys) c.11590C>A (p.Gln3864Lys) n.14003C>A n.12992C>A | |
12 | g.49033032A>C | CA479708774 | KMT2D | c.11673T>G (p.Ala3891=) c.11682T>G (p.Ala3894=) c.1233T>G (p.Ala411=) c.3252T>G (p.Ala1084=) c.11670T>G (p.Ala3890=) c.3152T>G (n.3152T>G) c.11679T>G (p.Ala3893=) c.11661T>G (p.Ala3887=) c.11589T>G (p.Ala3863=) n.14002T>G n.12991T>G | |
12 | g.49033032A>G | CA479708775 | KMT2D | c.11673T>C (p.Ala3891=) c.11682T>C (p.Ala3894=) c.1233T>C (p.Ala411=) c.3252T>C (p.Ala1084=) c.11670T>C (p.Ala3890=) c.3152T>C (n.3152T>C) c.11679T>C (p.Ala3893=) c.11661T>C (p.Ala3887=) c.11589T>C (p.Ala3863=) n.14002T>C n.12991T>C | dbSNP gnomAD v4 |
12 | g.49033032A>T | CA479708776 | KMT2D | c.11673T>A (p.Ala3891=) c.11682T>A (p.Ala3894=) c.1233T>A (p.Ala411=) c.3252T>A (p.Ala1084=) c.11670T>A (p.Ala3890=) c.3152T>A (n.3152T>A) c.11679T>A (p.Ala3893=) c.11661T>A (p.Ala3887=) c.11589T>A (p.Ala3863=) n.14002T>A n.12991T>A | |
12 | g.49033033G>A | CA384716734 | KMT2D | c.11672C>T (p.Ala3891Val) c.11681C>T (p.Ala3894Val) c.1232C>T (p.Ala411Val) c.3251C>T (p.Ala1084Val) c.11669C>T (p.Ala3890Val) c.3151C>T (n.3151C>T) c.11678C>T (p.Ala3893Val) c.11660C>T (p.Ala3887Val) c.11588C>T (p.Ala3863Val) n.14001C>T n.12990C>T | gnomAD v4 |
12 | g.49033033G>C | CA384716735 | KMT2D | c.11672C>G (p.Ala3891Gly) c.11681C>G (p.Ala3894Gly) c.1232C>G (p.Ala411Gly) c.3251C>G (p.Ala1084Gly) c.11669C>G (p.Ala3890Gly) c.3151C>G (n.3151C>G) c.11678C>G (p.Ala3893Gly) c.11660C>G (p.Ala3887Gly) c.11588C>G (p.Ala3863Gly) n.14001C>G n.12990C>G | |
12 | g.49033033G>T | CA384716736 | KMT2D | c.11672C>A (p.Ala3891Asp) c.11681C>A (p.Ala3894Asp) c.1232C>A (p.Ala411Asp) c.3251C>A (p.Ala1084Asp) c.11669C>A (p.Ala3890Asp) c.3151C>A (n.3151C>A) c.11678C>A (p.Ala3893Asp) c.11660C>A (p.Ala3887Asp) c.11588C>A (p.Ala3863Asp) n.14001C>A n.12990C>A | |
12 | g.49033034C>A | CA384716737 | KMT2D | c.11671G>T (p.Ala3891Ser) c.11680G>T (p.Ala3894Ser) c.1231G>T (p.Ala411Ser) c.3250G>T (p.Ala1084Ser) c.11668G>T (p.Ala3890Ser) c.3150G>T (n.3150G>T) c.11677G>T (p.Ala3893Ser) c.11659G>T (p.Ala3887Ser) c.11587G>T (p.Ala3863Ser) n.14000G>T n.12989G>T | ClinVar gnomAD v4 |
12 | g.49033034C= | CA2034946619 | KMT2D | c.11671G= (p.Ala3891=) c.11680G= (p.Ala3894=) c.1231G= (p.Ala411=) c.3250G= (p.Ala1084=) c.11668G= (p.Ala3890=) c.3150G= (n.3150G=) c.11677G= (p.Ala3893=) c.11659G= (p.Ala3887=) c.11587G= (p.Ala3863=) n.14000G= n.12989G= | |
12 | g.49033034C>G | CA384716738 | KMT2D | c.11671G>C (p.Ala3891Pro) c.11680G>C (p.Ala3894Pro) c.1231G>C (p.Ala411Pro) c.3250G>C (p.Ala1084Pro) c.11668G>C (p.Ala3890Pro) c.3150G>C (n.3150G>C) c.11677G>C (p.Ala3893Pro) c.11659G>C (p.Ala3887Pro) c.11587G>C (p.Ala3863Pro) n.14000G>C n.12989G>C | dbSNP |
12 | g.49033034C>T | CA10637636 | KMT2D | c.11671G>A (p.Ala3891Thr) c.11680G>A (p.Ala3894Thr) c.1231G>A (p.Ala411Thr) c.3250G>A (p.Ala1084Thr) c.11668G>A (p.Ala3890Thr) c.3150G>A (n.3150G>A) c.11677G>A (p.Ala3893Thr) c.11659G>A (p.Ala3887Thr) c.11587G>A (p.Ala3863Thr) n.14000G>A n.12989G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033035G>A | CA6546302 | KMT2D | c.11670C>T (p.Ser3890=) c.11679C>T (p.Ser3893=) c.1230C>T (p.Ser410=) c.3249C>T (p.Ser1083=) c.11667C>T (p.Ser3889=) c.3149C>T (n.3149C>T) c.11676C>T (p.Ser3892=) c.11658C>T (p.Ser3886=) c.11586C>T (p.Ser3862=) n.13999C>T n.12988C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033035G>C | CA384716744 | KMT2D | c.11670C>G (p.Ser3890Arg) c.11679C>G (p.Ser3893Arg) c.1230C>G (p.Ser410Arg) c.3249C>G (p.Ser1083Arg) c.11667C>G (p.Ser3889Arg) c.3149C>G (n.3149C>G) c.11676C>G (p.Ser3892Arg) c.11658C>G (p.Ser3886Arg) c.11586C>G (p.Ser3862Arg) n.13999C>G n.12988C>G | |
12 | g.49033035G= | CA2034946620 | KMT2D | c.11670C= (p.Ser3890=) c.11679C= (p.Ser3893=) c.1230C= (p.Ser410=) c.3249C= (p.Ser1083=) c.11667C= (p.Ser3889=) c.3149C= (n.3149C=) c.11676C= (p.Ser3892=) c.11658C= (p.Ser3886=) c.11586C= (p.Ser3862=) n.13999C= n.12988C= | |
12 | g.49033035G>T | CA384716746 | KMT2D | c.11670C>A (p.Ser3890Arg) c.11679C>A (p.Ser3893Arg) c.1230C>A (p.Ser410Arg) c.3249C>A (p.Ser1083Arg) c.11667C>A (p.Ser3889Arg) c.3149C>A (n.3149C>A) c.11676C>A (p.Ser3892Arg) c.11658C>A (p.Ser3886Arg) c.11586C>A (p.Ser3862Arg) n.13999C>A n.12988C>A | |
12 | g.49033036C>A | CA384716750 | KMT2D | c.11669G>T (p.Ser3890Ile) c.11678G>T (p.Ser3893Ile) c.1229G>T (p.Ser410Ile) c.3248G>T (p.Ser1083Ile) c.11666G>T (p.Ser3889Ile) c.3148G>T (n.3148G>T) c.11675G>T (p.Ser3892Ile) c.11657G>T (p.Ser3886Ile) c.11585G>T (p.Ser3862Ile) n.13998G>T n.12987G>T | |
12 | g.49033036C= | CA2034946621 | KMT2D | c.11669G= (p.Ser3890=) c.11678G= (p.Ser3893=) c.1229G= (p.Ser410=) c.3248G= (p.Ser1083=) c.11666G= (p.Ser3889=) c.3148G= (n.3148G=) c.11675G= (p.Ser3892=) c.11657G= (p.Ser3886=) c.11585G= (p.Ser3862=) n.13998G= n.12987G= | |
12 | g.49033036C>G | CA384716753 | KMT2D | c.11669G>C (p.Ser3890Thr) c.11678G>C (p.Ser3893Thr) c.1229G>C (p.Ser410Thr) c.3248G>C (p.Ser1083Thr) c.11666G>C (p.Ser3889Thr) c.3148G>C (n.3148G>C) c.11675G>C (p.Ser3892Thr) c.11657G>C (p.Ser3886Thr) c.11585G>C (p.Ser3862Thr) n.13998G>C n.12987G>C | |
12 | g.49033036C>T | CA384716748 | KMT2D | c.11669G>A (p.Ser3890Asn) c.11678G>A (p.Ser3893Asn) c.1229G>A (p.Ser410Asn) c.3248G>A (p.Ser1083Asn) c.11666G>A (p.Ser3889Asn) c.3148G>A (n.3148G>A) c.11675G>A (p.Ser3892Asn) c.11657G>A (p.Ser3886Asn) c.11585G>A (p.Ser3862Asn) n.13998G>A n.12987G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033037T>A | CA384716755 | KMT2D | c.11668A>T (p.Ser3890Cys) c.11677A>T (p.Ser3893Cys) c.1228A>T (p.Ser410Cys) c.3247A>T (p.Ser1083Cys) c.11665A>T (p.Ser3889Cys) c.3147A>T (n.3147A>T) c.11674A>T (p.Ser3892Cys) c.11656A>T (p.Ser3886Cys) c.11584A>T (p.Ser3862Cys) n.13997A>T n.12986A>T | dbSNP gnomAD v4 |
12 | g.49033037T>C | CA384716765 | KMT2D | c.11668A>G (p.Ser3890Gly) c.11677A>G (p.Ser3893Gly) c.1228A>G (p.Ser410Gly) c.3247A>G (p.Ser1083Gly) c.11665A>G (p.Ser3889Gly) c.3147A>G (n.3147A>G) c.11674A>G (p.Ser3892Gly) c.11656A>G (p.Ser3886Gly) c.11584A>G (p.Ser3862Gly) n.13997A>G n.12986A>G | dbSNP |
12 | g.49033037T>G | CA384716769 | KMT2D | c.11668A>C (p.Ser3890Arg) c.11677A>C (p.Ser3893Arg) c.1228A>C (p.Ser410Arg) c.3247A>C (p.Ser1083Arg) c.11665A>C (p.Ser3889Arg) c.3147A>C (n.3147A>C) c.11674A>C (p.Ser3892Arg) c.11656A>C (p.Ser3886Arg) c.11584A>C (p.Ser3862Arg) n.13997A>C n.12986A>C | |
12 | g.49033038C>A | CA479708785 | KMT2D | c.11667G>T (p.Leu3889=) c.11676G>T (p.Leu3892=) c.1227G>T (p.Leu409=) c.3246G>T (p.Leu1082=) c.11664G>T (p.Leu3888=) c.3146G>T (n.3146G>T) c.11673G>T (p.Leu3891=) c.11655G>T (p.Leu3885=) c.11583G>T (p.Leu3861=) n.13996G>T n.12985G>T | dbSNP |
12 | g.49033038C= | CA2034946622 | KMT2D | c.11667G= (p.Leu3889=) c.11676G= (p.Leu3892=) c.1227G= (p.Leu409=) c.3246G= (p.Leu1082=) c.11664G= (p.Leu3888=) c.3146G= (n.3146G=) c.11673G= (p.Leu3891=) c.11655G= (p.Leu3885=) c.11583G= (p.Leu3861=) n.13996G= n.12985G= | |
12 | g.49033038C>G | CA479708786 | KMT2D | c.11667G>C (p.Leu3889=) c.11676G>C (p.Leu3892=) c.1227G>C (p.Leu409=) c.3246G>C (p.Leu1082=) c.11664G>C (p.Leu3888=) c.3146G>C (n.3146G>C) c.11673G>C (p.Leu3891=) c.11655G>C (p.Leu3885=) c.11583G>C (p.Leu3861=) n.13996G>C n.12985G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033038C>T | CA479708787 | KMT2D | c.11667G>A (p.Leu3889=) c.11676G>A (p.Leu3892=) c.1227G>A (p.Leu409=) c.3246G>A (p.Leu1082=) c.11664G>A (p.Leu3888=) c.3146G>A (n.3146G>A) c.11673G>A (p.Leu3891=) c.11655G>A (p.Leu3885=) c.11583G>A (p.Leu3861=) n.13996G>A n.12985G>A | dbSNP |
12 | g.49033038_49033039del | CA2695216396 | KMT2D | c.11666_11667del (p.Leu3889GlnfsTer?) c.11675_11676del (p.Leu3892GlnfsTer?) c.1226_1227del (p.Leu409GlnfsTer?) c.3245_3246del (p.Leu1082GlnfsTer?) c.11663_11664del (p.Leu3888GlnfsTer?) c.3145_3146del (n.3145_3146del) c.11672_11673del (p.Leu3891GlnfsTer?) c.11654_11655del (p.Leu3885GlnfsTer?) c.11582_11583del (p.Leu3861GlnfsTer?) n.13995_13996del n.12984_12985del | |
12 | g.49033039A= | CA2034946623 | KMT2D | c.11666T= (p.Leu3889=) c.11675T= (p.Leu3892=) c.1226T= (p.Leu409=) c.3245T= (p.Leu1082=) c.11663T= (p.Leu3888=) c.3145T= (n.3145T=) c.11672T= (p.Leu3891=) c.11654T= (p.Leu3885=) c.11582T= (p.Leu3861=) n.13995T= n.12984T= | |
12 | g.49033039A>C | CA384716776 | KMT2D | c.11666T>G (p.Leu3889Arg) c.11675T>G (p.Leu3892Arg) c.1226T>G (p.Leu409Arg) c.3245T>G (p.Leu1082Arg) c.11663T>G (p.Leu3888Arg) c.3145T>G (n.3145T>G) c.11672T>G (p.Leu3891Arg) c.11654T>G (p.Leu3885Arg) c.11582T>G (p.Leu3861Arg) n.13995T>G n.12984T>G | |
12 | g.49033039A>G | CA384716780 | KMT2D | c.11666T>C (p.Leu3889Pro) c.11675T>C (p.Leu3892Pro) c.1226T>C (p.Leu409Pro) c.3245T>C (p.Leu1082Pro) c.11663T>C (p.Leu3888Pro) c.3145T>C (n.3145T>C) c.11672T>C (p.Leu3891Pro) c.11654T>C (p.Leu3885Pro) c.11582T>C (p.Leu3861Pro) n.13995T>C n.12984T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033039A>T | CA384716781 | KMT2D | c.11666T>A (p.Leu3889Gln) c.11675T>A (p.Leu3892Gln) c.1226T>A (p.Leu409Gln) c.3245T>A (p.Leu1082Gln) c.11663T>A (p.Leu3888Gln) c.3145T>A (n.3145T>A) c.11672T>A (p.Leu3891Gln) c.11654T>A (p.Leu3885Gln) c.11582T>A (p.Leu3861Gln) n.13995T>A n.12984T>A | |
12 | g.49033040G>A | CA479708789 | KMT2D | c.11665C>T (p.Leu3889=) c.11674C>T (p.Leu3892=) c.1225C>T (p.Leu409=) c.3244C>T (p.Leu1082=) c.11662C>T (p.Leu3888=) c.3144C>T (n.3144C>T) c.11671C>T (p.Leu3891=) c.11653C>T (p.Leu3885=) c.11581C>T (p.Leu3861=) n.13994C>T n.12983C>T | gnomAD v4 |
12 | g.49033040G>C | CA384716787 | KMT2D | c.11665C>G (p.Leu3889Val) c.11674C>G (p.Leu3892Val) c.1225C>G (p.Leu409Val) c.3244C>G (p.Leu1082Val) c.11662C>G (p.Leu3888Val) c.3144C>G (n.3144C>G) c.11671C>G (p.Leu3891Val) c.11653C>G (p.Leu3885Val) c.11581C>G (p.Leu3861Val) n.13994C>G n.12983C>G | |
12 | g.49033040G>T | CA384716791 | KMT2D | c.11665C>A (p.Leu3889Met) c.11674C>A (p.Leu3892Met) c.1225C>A (p.Leu409Met) c.3244C>A (p.Leu1082Met) c.11662C>A (p.Leu3888Met) c.3144C>A (n.3144C>A) c.11671C>A (p.Leu3891Met) c.11653C>A (p.Leu3885Met) c.11581C>A (p.Leu3861Met) n.13994C>A n.12983C>A | |
12 | g.49033041T>A | CA384716803 | KMT2D | c.11664A>T (p.Lys3888Asn) c.11673A>T (p.Lys3891Asn) c.1224A>T (p.Lys408Asn) c.3243A>T (p.Lys1081Asn) c.11661A>T (p.Lys3887Asn) c.3143A>T (n.3143A>T) c.11670A>T (p.Lys3890Asn) c.11652A>T (p.Lys3884Asn) c.11580A>T (p.Lys3860Asn) n.13993A>T n.12982A>T | dbSNP |
12 | g.49033041T>C | CA479708791 | KMT2D | c.11664A>G (p.Lys3888=) c.11673A>G (p.Lys3891=) c.1224A>G (p.Lys408=) c.3243A>G (p.Lys1081=) c.11661A>G (p.Lys3887=) c.3143A>G (n.3143A>G) c.11670A>G (p.Lys3890=) c.11652A>G (p.Lys3884=) c.11580A>G (p.Lys3860=) n.13993A>G n.12982A>G | |
12 | g.49033041T>G | CA384716806 | KMT2D | c.11664A>C (p.Lys3888Asn) c.11673A>C (p.Lys3891Asn) c.1224A>C (p.Lys408Asn) c.3243A>C (p.Lys1081Asn) c.11661A>C (p.Lys3887Asn) c.3143A>C (n.3143A>C) c.11670A>C (p.Lys3890Asn) c.11652A>C (p.Lys3884Asn) c.11580A>C (p.Lys3860Asn) n.13993A>C n.12982A>C | |
12 | g.49033042T>A | CA384716810 | KMT2D | c.11663A>T (p.Lys3888Ile) c.11672A>T (p.Lys3891Ile) c.1223A>T (p.Lys408Ile) c.3242A>T (p.Lys1081Ile) c.11660A>T (p.Lys3887Ile) c.3142A>T (n.3142A>T) c.11669A>T (p.Lys3890Ile) c.11651A>T (p.Lys3884Ile) c.11579A>T (p.Lys3860Ile) n.13992A>T n.12981A>T | |
12 | g.49033042T>C | CA384716813 | KMT2D | c.11663A>G (p.Lys3888Arg) c.11672A>G (p.Lys3891Arg) c.1223A>G (p.Lys408Arg) c.3242A>G (p.Lys1081Arg) c.11660A>G (p.Lys3887Arg) c.3142A>G (n.3142A>G) c.11669A>G (p.Lys3890Arg) c.11651A>G (p.Lys3884Arg) c.11579A>G (p.Lys3860Arg) n.13992A>G n.12981A>G | |
12 | g.49033042T>G | CA384716823 | KMT2D | c.11663A>C (p.Lys3888Thr) c.11672A>C (p.Lys3891Thr) c.1223A>C (p.Lys408Thr) c.3242A>C (p.Lys1081Thr) c.11660A>C (p.Lys3887Thr) c.3142A>C (n.3142A>C) c.11669A>C (p.Lys3890Thr) c.11651A>C (p.Lys3884Thr) c.11579A>C (p.Lys3860Thr) n.13992A>C n.12981A>C | |
12 | g.49033043T>A | CA384716826 | KMT2D | c.11662A>T (p.Lys3888Ter) c.11671A>T (p.Lys3891Ter) c.1222A>T (p.Lys408Ter) c.3241A>T (p.Lys1081Ter) c.11659A>T (p.Lys3887Ter) c.3141A>T (n.3141A>T) c.11668A>T (p.Lys3890Ter) c.11650A>T (p.Lys3884Ter) c.11578A>T (p.Lys3860Ter) n.13991A>T n.12980A>T | |
12 | g.49033043T>C | CA384716841 | KMT2D | c.11662A>G (p.Lys3888Glu) c.11671A>G (p.Lys3891Glu) c.1222A>G (p.Lys408Glu) c.3241A>G (p.Lys1081Glu) c.11659A>G (p.Lys3887Glu) c.3141A>G (n.3141A>G) c.11668A>G (p.Lys3890Glu) c.11650A>G (p.Lys3884Glu) c.11578A>G (p.Lys3860Glu) n.13991A>G n.12980A>G | |
12 | g.49033043T>G | CA384716832 | KMT2D | c.11662A>C (p.Lys3888Gln) c.11671A>C (p.Lys3891Gln) c.1222A>C (p.Lys408Gln) c.3241A>C (p.Lys1081Gln) c.11659A>C (p.Lys3887Gln) c.3141A>C (n.3141A>C) c.11668A>C (p.Lys3890Gln) c.11650A>C (p.Lys3884Gln) c.11578A>C (p.Lys3860Gln) n.13991A>C n.12980A>C | |
12 | g.49033044G>A | CA479708796 | KMT2D | c.11661C>T (p.Pro3887=) c.11670C>T (p.Pro3890=) c.1221C>T (p.Pro407=) c.3240C>T (p.Pro1080=) c.11658C>T (p.Pro3886=) c.3140C>T (n.3140C>T) c.11667C>T (p.Pro3889=) c.11649C>T (p.Pro3883=) c.11577C>T (p.Pro3859=) n.13990C>T n.12979C>T | gnomAD v4 |
12 | g.49033044G>C | CA479708797 | KMT2D | c.11661C>G (p.Pro3887=) c.11670C>G (p.Pro3890=) c.1221C>G (p.Pro407=) c.3240C>G (p.Pro1080=) c.11658C>G (p.Pro3886=) c.3140C>G (n.3140C>G) c.11667C>G (p.Pro3889=) c.11649C>G (p.Pro3883=) c.11577C>G (p.Pro3859=) n.13990C>G n.12979C>G | gnomAD v4 |
12 | g.49033044G>T | CA479708798 | KMT2D | c.11661C>A (p.Pro3887=) c.11670C>A (p.Pro3890=) c.1221C>A (p.Pro407=) c.3240C>A (p.Pro1080=) c.11658C>A (p.Pro3886=) c.3140C>A (n.3140C>A) c.11667C>A (p.Pro3889=) c.11649C>A (p.Pro3883=) c.11577C>A (p.Pro3859=) n.13990C>A n.12979C>A | |
12 | g.49033046del | CA2841535268 | KMT2D | c.11661del (p.Lys3888AsnfsTer2) c.11670del (p.Lys3891AsnfsTer2) c.1221del (p.Lys408AsnfsTer2) c.3240del (p.Lys1081AsnfsTer2) c.11658del (p.Lys3887AsnfsTer2) c.3140del (n.3140del) c.11667del (p.Lys3890AsnfsTer2) c.11649del (p.Lys3884AsnfsTer2) c.11577del (p.Lys3860AsnfsTer2) n.13990del n.12979del | |
12 | g.49033045G>A | CA384716845 | KMT2D | c.11660C>T (p.Pro3887Leu) c.11669C>T (p.Pro3890Leu) c.1220C>T (p.Pro407Leu) c.3239C>T (p.Pro1080Leu) c.11657C>T (p.Pro3886Leu) c.3139C>T (n.3139C>T) c.11666C>T (p.Pro3889Leu) c.11648C>T (p.Pro3883Leu) c.11576C>T (p.Pro3859Leu) n.13989C>T n.12978C>T | |
12 | g.49033045G>C | CA384716850 | KMT2D | c.11660C>G (p.Pro3887Arg) c.11669C>G (p.Pro3890Arg) c.1220C>G (p.Pro407Arg) c.3239C>G (p.Pro1080Arg) c.11657C>G (p.Pro3886Arg) c.3139C>G (n.3139C>G) c.11666C>G (p.Pro3889Arg) c.11648C>G (p.Pro3883Arg) c.11576C>G (p.Pro3859Arg) n.13989C>G n.12978C>G | |
12 | g.49033045G>T | CA384716848 | KMT2D | c.11660C>A (p.Pro3887His) c.11669C>A (p.Pro3890His) c.1220C>A (p.Pro407His) c.3239C>A (p.Pro1080His) c.11657C>A (p.Pro3886His) c.3139C>A (n.3139C>A) c.11666C>A (p.Pro3889His) c.11648C>A (p.Pro3883His) c.11576C>A (p.Pro3859His) n.13989C>A n.12978C>A | |
12 | g.49033046G>A | CA384716852 | KMT2D | c.11659C>T (p.Pro3887Ser) c.11668C>T (p.Pro3890Ser) c.1219C>T (p.Pro407Ser) c.3238C>T (p.Pro1080Ser) c.11656C>T (p.Pro3886Ser) c.3138C>T (n.3138C>T) c.11665C>T (p.Pro3889Ser) c.11647C>T (p.Pro3883Ser) c.11575C>T (p.Pro3859Ser) n.13988C>T n.12977C>T | ClinVar dbSNP gnomAD v4 |
12 | g.49033046G>C | CA384716855 | KMT2D | c.11659C>G (p.Pro3887Ala) c.11668C>G (p.Pro3890Ala) c.1219C>G (p.Pro407Ala) c.3238C>G (p.Pro1080Ala) c.11656C>G (p.Pro3886Ala) c.3138C>G (n.3138C>G) c.11665C>G (p.Pro3889Ala) c.11647C>G (p.Pro3883Ala) c.11575C>G (p.Pro3859Ala) n.13988C>G n.12977C>G | dbSNP |
12 | g.49033046G= | CA2034946624 | KMT2D | c.11659C= (p.Pro3887=) c.11668C= (p.Pro3890=) c.1219C= (p.Pro407=) c.3238C= (p.Pro1080=) c.11656C= (p.Pro3886=) c.3138C= (n.3138C=) c.11665C= (p.Pro3889=) c.11647C= (p.Pro3883=) c.11575C= (p.Pro3859=) n.13988C= n.12977C= | |
12 | g.49033046G>T | CA384716853 | KMT2D | c.11659C>A (p.Pro3887Thr) c.11668C>A (p.Pro3890Thr) c.1219C>A (p.Pro407Thr) c.3238C>A (p.Pro1080Thr) c.11656C>A (p.Pro3886Thr) c.3138C>A (n.3138C>A) c.11665C>A (p.Pro3889Thr) c.11647C>A (p.Pro3883Thr) c.11575C>A (p.Pro3859Thr) n.13988C>A n.12977C>A | |
12 | g.49033047C>A | CA384716857 | KMT2D | c.11658G>T (p.Gln3886His) c.11667G>T (p.Gln3889His) c.1218G>T (p.Gln406His) c.3237G>T (p.Gln1079His) c.11655G>T (p.Gln3885His) c.3137G>T (n.3137G>T) c.11664G>T (p.Gln3888His) c.11646G>T (p.Gln3882His) c.11574G>T (p.Gln3858His) n.13987G>T n.12976G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033047C= | CA2034946625 | KMT2D | c.11658G= (p.Gln3886=) c.11667G= (p.Gln3889=) c.1218G= (p.Gln406=) c.3237G= (p.Gln1079=) c.11655G= (p.Gln3885=) c.3137G= (n.3137G=) c.11664G= (p.Gln3888=) c.11646G= (p.Gln3882=) c.11574G= (p.Gln3858=) n.13987G= n.12976G= | |
12 | g.49033047C>G | CA384716861 | KMT2D | c.11658G>C (p.Gln3886His) c.11667G>C (p.Gln3889His) c.1218G>C (p.Gln406His) c.3237G>C (p.Gln1079His) c.11655G>C (p.Gln3885His) c.3137G>C (n.3137G>C) c.11664G>C (p.Gln3888His) c.11646G>C (p.Gln3882His) c.11574G>C (p.Gln3858His) n.13987G>C n.12976G>C | |
12 | g.49033047C>T | CA479708802 | KMT2D | c.11658G>A (p.Gln3886=) c.11667G>A (p.Gln3889=) c.1218G>A (p.Gln406=) c.3237G>A (p.Gln1079=) c.11655G>A (p.Gln3885=) c.3137G>A (n.3137G>A) c.11664G>A (p.Gln3888=) c.11646G>A (p.Gln3882=) c.11574G>A (p.Gln3858=) n.13987G>A n.12976G>A | dbSNP gnomAD v4 |
12 | g.49033048T>A | CA384716866 | KMT2D | c.11657A>T (p.Gln3886Leu) c.11666A>T (p.Gln3889Leu) c.1217A>T (p.Gln406Leu) c.3236A>T (p.Gln1079Leu) c.11654A>T (p.Gln3885Leu) c.3136A>T (n.3136A>T) c.11663A>T (p.Gln3888Leu) c.11645A>T (p.Gln3882Leu) c.11573A>T (p.Gln3858Leu) n.13986A>T n.12975A>T | |
12 | g.49033048T>C | CA384716869 | KMT2D | c.11657A>G (p.Gln3886Arg) c.11666A>G (p.Gln3889Arg) c.1217A>G (p.Gln406Arg) c.3236A>G (p.Gln1079Arg) c.11654A>G (p.Gln3885Arg) c.3136A>G (n.3136A>G) c.11663A>G (p.Gln3888Arg) c.11645A>G (p.Gln3882Arg) c.11573A>G (p.Gln3858Arg) n.13986A>G n.12975A>G | |
12 | g.49033048T>G | CA384716871 | KMT2D | c.11657A>C (p.Gln3886Pro) c.11666A>C (p.Gln3889Pro) c.1217A>C (p.Gln406Pro) c.3236A>C (p.Gln1079Pro) c.11654A>C (p.Gln3885Pro) c.3136A>C (n.3136A>C) c.11663A>C (p.Gln3888Pro) c.11645A>C (p.Gln3882Pro) c.11573A>C (p.Gln3858Pro) n.13986A>C n.12975A>C | |
12 | g.49033049G>A | CA384716873 | KMT2D | c.11656C>T (p.Gln3886Ter) c.11665C>T (p.Gln3889Ter) c.1216C>T (p.Gln406Ter) c.3235C>T (p.Gln1079Ter) c.11653C>T (p.Gln3885Ter) c.3135C>T (n.3135C>T) c.11662C>T (p.Gln3888Ter) c.11644C>T (p.Gln3882Ter) c.11572C>T (p.Gln3858Ter) n.13985C>T n.12974C>T | dbSNP COSMIC COSMIC |
12 | g.49033049G>C | CA384716875 | KMT2D | c.11656C>G (p.Gln3886Glu) c.11665C>G (p.Gln3889Glu) c.1216C>G (p.Gln406Glu) c.3235C>G (p.Gln1079Glu) c.11653C>G (p.Gln3885Glu) c.3135C>G (n.3135C>G) c.11662C>G (p.Gln3888Glu) c.11644C>G (p.Gln3882Glu) c.11572C>G (p.Gln3858Glu) n.13985C>G n.12974C>G | |
12 | g.49033049G>T | CA384716877 | KMT2D | c.11656C>A (p.Gln3886Lys) c.11665C>A (p.Gln3889Lys) c.1216C>A (p.Gln406Lys) c.3235C>A (p.Gln1079Lys) c.11653C>A (p.Gln3885Lys) c.3135C>A (n.3135C>A) c.11662C>A (p.Gln3888Lys) c.11644C>A (p.Gln3882Lys) c.11572C>A (p.Gln3858Lys) n.13985C>A n.12974C>A | |
12 | g.49033049dup | CA645574514 | KMT2D | c.11656dup (p.Gln3886ProfsTer?) c.11665dup (p.Gln3889ProfsTer?) c.1216dup (p.Gln406ProfsTer?) c.3235dup (p.Gln1079ProfsTer?) c.11653dup (p.Gln3885ProfsTer?) c.3135dup (n.3135dup) c.11662dup (p.Gln3888ProfsTer?) c.11644dup (p.Gln3882ProfsTer?) c.11572dup (p.Gln3858ProfsTer?) n.13985dup n.12974dup | COSMIC COSMIC COSMIC |
12 | g.49033050C>A | CA479708807 | KMT2D | c.11655G>T (p.Gly3885=) c.11664G>T (p.Gly3888=) c.1215G>T (p.Gly405=) c.3234G>T (p.Gly1078=) c.11652G>T (p.Gly3884=) c.3134G>T (n.3134G>T) c.11661G>T (p.Gly3887=) c.11643G>T (p.Gly3881=) c.11571G>T (p.Gly3857=) n.13984G>T n.12973G>T | ClinVar dbSNP gnomAD v4 |
12 | g.49033050C>G | CA479708810 | KMT2D | c.11655G>C (p.Gly3885=) c.11664G>C (p.Gly3888=) c.1215G>C (p.Gly405=) c.3234G>C (p.Gly1078=) c.11652G>C (p.Gly3884=) c.3134G>C (n.3134G>C) c.11661G>C (p.Gly3887=) c.11643G>C (p.Gly3881=) c.11571G>C (p.Gly3857=) n.13984G>C n.12973G>C | dbSNP |
12 | g.49033050C>T | CA479708813 | KMT2D | c.11655G>A (p.Gly3885=) c.11664G>A (p.Gly3888=) c.1215G>A (p.Gly405=) c.3234G>A (p.Gly1078=) c.11652G>A (p.Gly3884=) c.3134G>A (n.3134G>A) c.11661G>A (p.Gly3887=) c.11643G>A (p.Gly3881=) c.11571G>A (p.Gly3857=) n.13984G>A n.12973G>A | dbSNP |
12 | g.49033052dup | CA479708815 | KMT2D | c.11655dup (p.Gln3886AlafsTer?) c.11664dup (p.Gln3889AlafsTer?) c.1215dup (p.Gln406AlafsTer?) c.3234dup (p.Gln1079AlafsTer?) c.11652dup (p.Gln3885AlafsTer?) c.3134dup (n.3134dup) c.11661dup (p.Gln3888AlafsTer?) c.11643dup (p.Gln3882AlafsTer?) c.11571dup (p.Gln3858AlafsTer?) n.13984dup n.12973dup | |
12 | g.49033051C>A | CA384716879 | KMT2D | c.11654G>T (p.Gly3885Val) c.11663G>T (p.Gly3888Val) c.1214G>T (p.Gly405Val) c.3233G>T (p.Gly1078Val) c.11651G>T (p.Gly3884Val) c.3133G>T (n.3133G>T) c.11660G>T (p.Gly3887Val) c.11642G>T (p.Gly3881Val) c.11570G>T (p.Gly3857Val) n.13983G>T n.12972G>T | |
12 | g.49033051C>G | CA384716880 | KMT2D | c.11654G>C (p.Gly3885Ala) c.11663G>C (p.Gly3888Ala) c.1214G>C (p.Gly405Ala) c.3233G>C (p.Gly1078Ala) c.11651G>C (p.Gly3884Ala) c.3133G>C (n.3133G>C) c.11660G>C (p.Gly3887Ala) c.11642G>C (p.Gly3881Ala) c.11570G>C (p.Gly3857Ala) n.13983G>C n.12972G>C | |
12 | g.49033051C>T | CA384716883 | KMT2D | c.11654G>A (p.Gly3885Glu) c.11663G>A (p.Gly3888Glu) c.1214G>A (p.Gly405Glu) c.3233G>A (p.Gly1078Glu) c.11651G>A (p.Gly3884Glu) c.3133G>A (n.3133G>A) c.11660G>A (p.Gly3887Glu) c.11642G>A (p.Gly3881Glu) c.11570G>A (p.Gly3857Glu) n.13983G>A n.12972G>A | |
12 | g.49033052C>A | CA384716895 | KMT2D | c.11653G>T (p.Gly3885Trp) c.11662G>T (p.Gly3888Trp) c.1213G>T (p.Gly405Trp) c.3232G>T (p.Gly1078Trp) c.11650G>T (p.Gly3884Trp) c.3132G>T (n.3132G>T) c.11659G>T (p.Gly3887Trp) c.11641G>T (p.Gly3881Trp) c.11569G>T (p.Gly3857Trp) n.13982G>T n.12971G>T | dbSNP |
12 | g.49033052C>G | CA384716887 | KMT2D | c.11653G>C (p.Gly3885Arg) c.11662G>C (p.Gly3888Arg) c.1213G>C (p.Gly405Arg) c.3232G>C (p.Gly1078Arg) c.11650G>C (p.Gly3884Arg) c.3132G>C (n.3132G>C) c.11659G>C (p.Gly3887Arg) c.11641G>C (p.Gly3881Arg) c.11569G>C (p.Gly3857Arg) n.13982G>C n.12971G>C | |
12 | g.49033052C>T | CA384716893 | KMT2D | c.11653G>A (p.Gly3885Arg) c.11662G>A (p.Gly3888Arg) c.1213G>A (p.Gly405Arg) c.3232G>A (p.Gly1078Arg) c.11650G>A (p.Gly3884Arg) c.3132G>A (n.3132G>A) c.11659G>A (p.Gly3887Arg) c.11641G>A (p.Gly3881Arg) c.11569G>A (p.Gly3857Arg) n.13982G>A n.12971G>A | gnomAD v4 |
12 | g.49033053A>C | CA384716901 | KMT2D | c.11652T>G (p.Ser3884Arg) c.11661T>G (p.Ser3887Arg) c.1212T>G (p.Ser404Arg) c.3231T>G (p.Ser1077Arg) c.11649T>G (p.Ser3883Arg) c.3131T>G (n.3131T>G) c.11658T>G (p.Ser3886Arg) c.11640T>G (p.Ser3880Arg) c.11568T>G (p.Ser3856Arg) n.13981T>G n.12970T>G | |
12 | g.49033053A>G | CA479708820 | KMT2D | c.11652T>C (p.Ser3884=) c.11661T>C (p.Ser3887=) c.1212T>C (p.Ser404=) c.3231T>C (p.Ser1077=) c.11649T>C (p.Ser3883=) c.3131T>C (n.3131T>C) c.11658T>C (p.Ser3886=) c.11640T>C (p.Ser3880=) c.11568T>C (p.Ser3856=) n.13981T>C n.12970T>C | |
12 | g.49033053A>T | CA384716903 | KMT2D | c.11652T>A (p.Ser3884Arg) c.11661T>A (p.Ser3887Arg) c.1212T>A (p.Ser404Arg) c.3231T>A (p.Ser1077Arg) c.11649T>A (p.Ser3883Arg) c.3131T>A (n.3131T>A) c.11658T>A (p.Ser3886Arg) c.11640T>A (p.Ser3880Arg) c.11568T>A (p.Ser3856Arg) n.13981T>A n.12970T>A | |
12 | g.49033054C>A | CA384716905 | KMT2D | c.11651G>T (p.Ser3884Ile) c.11660G>T (p.Ser3887Ile) c.1211G>T (p.Ser404Ile) c.3230G>T (p.Ser1077Ile) c.11648G>T (p.Ser3883Ile) c.3130G>T (n.3130G>T) c.11657G>T (p.Ser3886Ile) c.11639G>T (p.Ser3880Ile) c.11567G>T (p.Ser3856Ile) n.13980G>T n.12969G>T | |
12 | g.49033054C>G | CA384716912 | KMT2D | c.11651G>C (p.Ser3884Thr) c.11660G>C (p.Ser3887Thr) c.1211G>C (p.Ser404Thr) c.3230G>C (p.Ser1077Thr) c.11648G>C (p.Ser3883Thr) c.3130G>C (n.3130G>C) c.11657G>C (p.Ser3886Thr) c.11639G>C (p.Ser3880Thr) c.11567G>C (p.Ser3856Thr) n.13980G>C n.12969G>C | |
12 | g.49033054C>T | CA384716916 | KMT2D | c.11651G>A (p.Ser3884Asn) c.11660G>A (p.Ser3887Asn) c.1211G>A (p.Ser404Asn) c.3230G>A (p.Ser1077Asn) c.11648G>A (p.Ser3883Asn) c.3130G>A (n.3130G>A) c.11657G>A (p.Ser3886Asn) c.11639G>A (p.Ser3880Asn) c.11567G>A (p.Ser3856Asn) n.13980G>A n.12969G>A | |
12 | g.49033055T>A | CA384716918 | KMT2D | c.11650A>T (p.Ser3884Cys) c.11659A>T (p.Ser3887Cys) c.1210A>T (p.Ser404Cys) c.3229A>T (p.Ser1077Cys) c.11647A>T (p.Ser3883Cys) c.3129A>T (n.3129A>T) c.11656A>T (p.Ser3886Cys) c.11638A>T (p.Ser3880Cys) c.11566A>T (p.Ser3856Cys) n.13979A>T n.12968A>T | dbSNP |
12 | g.49033055T>C | CA384716923 | KMT2D | c.11650A>G (p.Ser3884Gly) c.11659A>G (p.Ser3887Gly) c.1210A>G (p.Ser404Gly) c.3229A>G (p.Ser1077Gly) c.11647A>G (p.Ser3883Gly) c.3129A>G (n.3129A>G) c.11656A>G (p.Ser3886Gly) c.11638A>G (p.Ser3880Gly) c.11566A>G (p.Ser3856Gly) n.13979A>G n.12968A>G | |
12 | g.49033055T>G | CA384716926 | KMT2D | c.11650A>C (p.Ser3884Arg) c.11659A>C (p.Ser3887Arg) c.1210A>C (p.Ser404Arg) c.3229A>C (p.Ser1077Arg) c.11647A>C (p.Ser3883Arg) c.3129A>C (n.3129A>C) c.11656A>C (p.Ser3886Arg) c.11638A>C (p.Ser3880Arg) c.11566A>C (p.Ser3856Arg) n.13979A>C n.12968A>C | |
12 | g.49033056G>A | CA479708823 | KMT2D | c.11649C>T (p.His3883=) c.11658C>T (p.His3886=) c.1209C>T (p.His403=) c.3228C>T (p.His1076=) c.11646C>T (p.His3882=) c.3128C>T (n.3128C>T) c.11655C>T (p.His3885=) c.11637C>T (p.His3879=) c.11565C>T (p.His3855=) n.13978C>T n.12967C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033056G>C | CA384716929 | KMT2D | c.11649C>G (p.His3883Gln) c.11658C>G (p.His3886Gln) c.1209C>G (p.His403Gln) c.3228C>G (p.His1076Gln) c.11646C>G (p.His3882Gln) c.3128C>G (n.3128C>G) c.11655C>G (p.His3885Gln) c.11637C>G (p.His3879Gln) c.11565C>G (p.His3855Gln) n.13978C>G n.12967C>G | |
12 | g.49033056G= | CA2034946626 | KMT2D | c.11649C= (p.His3883=) c.11658C= (p.His3886=) c.1209C= (p.His403=) c.3228C= (p.His1076=) c.11646C= (p.His3882=) c.3128C= (n.3128C=) c.11655C= (p.His3885=) c.11637C= (p.His3879=) c.11565C= (p.His3855=) n.13978C= n.12967C= | |
12 | g.49033056G>T | CA384716932 | KMT2D | c.11649C>A (p.His3883Gln) c.11658C>A (p.His3886Gln) c.1209C>A (p.His403Gln) c.3228C>A (p.His1076Gln) c.11646C>A (p.His3882Gln) c.3128C>A (n.3128C>A) c.11655C>A (p.His3885Gln) c.11637C>A (p.His3879Gln) c.11565C>A (p.His3855Gln) n.13978C>A n.12967C>A | |
12 | g.49033057T>A | CA236639967 | KMT2D | c.11648A>T (p.His3883Leu) c.11657A>T (p.His3886Leu) c.1208A>T (p.His403Leu) c.3227A>T (p.His1076Leu) c.11645A>T (p.His3882Leu) c.3127A>T (n.3127A>T) c.11654A>T (p.His3885Leu) c.11636A>T (p.His3879Leu) c.11564A>T (p.His3855Leu) n.13977A>T n.12966A>T | dbSNP gnomAD v4 |
12 | g.49033057T>C | CA384716941 | KMT2D | c.11648A>G (p.His3883Arg) c.11657A>G (p.His3886Arg) c.1208A>G (p.His403Arg) c.3227A>G (p.His1076Arg) c.11645A>G (p.His3882Arg) c.3127A>G (n.3127A>G) c.11654A>G (p.His3885Arg) c.11636A>G (p.His3879Arg) c.11564A>G (p.His3855Arg) n.13977A>G n.12966A>G | |
12 | g.49033057T>G | CA384716936 | KMT2D | c.11648A>C (p.His3883Pro) c.11657A>C (p.His3886Pro) c.1208A>C (p.His403Pro) c.3227A>C (p.His1076Pro) c.11645A>C (p.His3882Pro) c.3127A>C (n.3127A>C) c.11654A>C (p.His3885Pro) c.11636A>C (p.His3879Pro) c.11564A>C (p.His3855Pro) n.13977A>C n.12966A>C | |
12 | g.49033057T= | CA2034946627 | KMT2D | c.11648A= (p.His3883=) c.11657A= (p.His3886=) c.1208A= (p.His403=) c.3227A= (p.His1076=) c.11645A= (p.His3882=) c.3127A= (n.3127A=) c.11654A= (p.His3885=) c.11636A= (p.His3879=) c.11564A= (p.His3855=) n.13977A= n.12966A= | |
12 | g.49033058G>A | CA384716945 | KMT2D | c.11647C>T (p.His3883Tyr) c.11656C>T (p.His3886Tyr) c.1207C>T (p.His403Tyr) c.3226C>T (p.His1076Tyr) c.11644C>T (p.His3882Tyr) c.3126C>T (n.3126C>T) c.11653C>T (p.His3885Tyr) c.11635C>T (p.His3879Tyr) c.11563C>T (p.His3855Tyr) n.13976C>T n.12965C>T | dbSNP |
12 | g.49033058G>C | CA384716946 | KMT2D | c.11647C>G (p.His3883Asp) c.11656C>G (p.His3886Asp) c.1207C>G (p.His403Asp) c.3226C>G (p.His1076Asp) c.11644C>G (p.His3882Asp) c.3126C>G (n.3126C>G) c.11653C>G (p.His3885Asp) c.11635C>G (p.His3879Asp) c.11563C>G (p.His3855Asp) n.13976C>G n.12965C>G | dbSNP |
12 | g.49033058G= | CA2034946628 | KMT2D | c.11647C= (p.His3883=) c.11656C= (p.His3886=) c.1207C= (p.His403=) c.3226C= (p.His1076=) c.11644C= (p.His3882=) c.3126C= (n.3126C=) c.11653C= (p.His3885=) c.11635C= (p.His3879=) c.11563C= (p.His3855=) n.13976C= n.12965C= | |
12 | g.49033058G>T | CA384716947 | KMT2D | c.11647C>A (p.His3883Asn) c.11656C>A (p.His3886Asn) c.1207C>A (p.His403Asn) c.3226C>A (p.His1076Asn) c.11644C>A (p.His3882Asn) c.3126C>A (n.3126C>A) c.11653C>A (p.His3885Asn) c.11635C>A (p.His3879Asn) c.11563C>A (p.His3855Asn) n.13976C>A n.12965C>A | |
12 | g.49033059T>A | CA479708830 | KMT2D | c.11646A>T (p.Ser3882=) c.11655A>T (p.Ser3885=) c.1206A>T (p.Ser402=) c.3225A>T (p.Ser1075=) c.11643A>T (p.Ser3881=) c.3125A>T (n.3125A>T) c.11652A>T (p.Ser3884=) c.11634A>T (p.Ser3878=) c.11562A>T (p.Ser3854=) n.13975A>T n.12964A>T | dbSNP |
12 | g.49033059T>C | CA479708827 | KMT2D | c.11646A>G (p.Ser3882=) c.11655A>G (p.Ser3885=) c.1206A>G (p.Ser402=) c.3225A>G (p.Ser1075=) c.11643A>G (p.Ser3881=) c.3125A>G (n.3125A>G) c.11652A>G (p.Ser3884=) c.11634A>G (p.Ser3878=) c.11562A>G (p.Ser3854=) n.13975A>G n.12964A>G | |
12 | g.49033059T>G | CA479708829 | KMT2D | c.11646A>C (p.Ser3882=) c.11655A>C (p.Ser3885=) c.1206A>C (p.Ser402=) c.3225A>C (p.Ser1075=) c.11643A>C (p.Ser3881=) c.3125A>C (n.3125A>C) c.11652A>C (p.Ser3884=) c.11634A>C (p.Ser3878=) c.11562A>C (p.Ser3854=) n.13975A>C n.12964A>C | |
12 | g.49033060G>A | CA384716948 | KMT2D | c.11645C>T (p.Ser3882Leu) c.11654C>T (p.Ser3885Leu) c.1205C>T (p.Ser402Leu) c.3224C>T (p.Ser1075Leu) c.11642C>T (p.Ser3881Leu) c.3124C>T (n.3124C>T) c.11651C>T (p.Ser3884Leu) c.11633C>T (p.Ser3878Leu) c.11561C>T (p.Ser3854Leu) n.13974C>T n.12963C>T | ClinVar dbSNP |
12 | g.49033060G>C | CA384716949 | KMT2D | c.11645C>G (p.Ser3882Ter) c.11654C>G (p.Ser3885Ter) c.1205C>G (p.Ser402Ter) c.3224C>G (p.Ser1075Ter) c.11642C>G (p.Ser3881Ter) c.3124C>G (n.3124C>G) c.11651C>G (p.Ser3884Ter) c.11633C>G (p.Ser3878Ter) c.11561C>G (p.Ser3854Ter) n.13974C>G n.12963C>G | gnomAD v4 |
12 | g.49033060G>T | CA384716950 | KMT2D | c.11645C>A (p.Ser3882Ter) c.11654C>A (p.Ser3885Ter) c.1205C>A (p.Ser402Ter) c.3224C>A (p.Ser1075Ter) c.11642C>A (p.Ser3881Ter) c.3124C>A (n.3124C>A) c.11651C>A (p.Ser3884Ter) c.11633C>A (p.Ser3878Ter) c.11561C>A (p.Ser3854Ter) n.13974C>A n.12963C>A | |
12 | g.49033061A>C | CA384716954 | KMT2D | c.11644T>G (p.Ser3882Ala) c.11653T>G (p.Ser3885Ala) c.1204T>G (p.Ser402Ala) c.3223T>G (p.Ser1075Ala) c.11641T>G (p.Ser3881Ala) c.3123T>G (n.3123T>G) c.11650T>G (p.Ser3884Ala) c.11632T>G (p.Ser3878Ala) c.11560T>G (p.Ser3854Ala) n.13973T>G n.12962T>G | |
12 | g.49033061A>G | CA384716967 | KMT2D | c.11644T>C (p.Ser3882Pro) c.11653T>C (p.Ser3885Pro) c.1204T>C (p.Ser402Pro) c.3223T>C (p.Ser1075Pro) c.11641T>C (p.Ser3881Pro) c.3123T>C (n.3123T>C) c.11650T>C (p.Ser3884Pro) c.11632T>C (p.Ser3878Pro) c.11560T>C (p.Ser3854Pro) n.13973T>C n.12962T>C | |
12 | g.49033061A>T | CA384716971 | KMT2D | c.11644T>A (p.Ser3882Thr) c.11653T>A (p.Ser3885Thr) c.1204T>A (p.Ser402Thr) c.3223T>A (p.Ser1075Thr) c.11641T>A (p.Ser3881Thr) c.3123T>A (n.3123T>A) c.11650T>A (p.Ser3884Thr) c.11632T>A (p.Ser3878Thr) c.11560T>A (p.Ser3854Thr) n.13973T>A n.12962T>A | |
12 | g.49033062C>A | CA384716974 | KMT2D | c.11643G>T (p.Met3881Ile) c.11652G>T (p.Met3884Ile) c.1203G>T (p.Met401Ile) c.3222G>T (p.Met1074Ile) c.11640G>T (p.Met3880Ile) c.3122G>T (n.3122G>T) c.11649G>T (p.Met3883Ile) c.11631G>T (p.Met3877Ile) c.11559G>T (p.Met3853Ile) n.13972G>T n.12961G>T | |
12 | g.49033062C>G | CA384716975 | KMT2D | c.11643G>C (p.Met3881Ile) c.11652G>C (p.Met3884Ile) c.1203G>C (p.Met401Ile) c.3222G>C (p.Met1074Ile) c.11640G>C (p.Met3880Ile) c.3122G>C (n.3122G>C) c.11649G>C (p.Met3883Ile) c.11631G>C (p.Met3877Ile) c.11559G>C (p.Met3853Ile) n.13972G>C n.12961G>C | |
12 | g.49033062C>T | CA384716976 | KMT2D | c.11643G>A (p.Met3881Ile) c.11652G>A (p.Met3884Ile) c.1203G>A (p.Met401Ile) c.3222G>A (p.Met1074Ile) c.11640G>A (p.Met3880Ile) c.3122G>A (n.3122G>A) c.11649G>A (p.Met3883Ile) c.11631G>A (p.Met3877Ile) c.11559G>A (p.Met3853Ile) n.13972G>A n.12961G>A | gnomAD v4 |
12 | g.49033063A>C | CA384716980 | KMT2D | c.11642T>G (p.Met3881Arg) c.11651T>G (p.Met3884Arg) c.1202T>G (p.Met401Arg) c.3221T>G (p.Met1074Arg) c.11639T>G (p.Met3880Arg) c.3121T>G (n.3121T>G) c.11648T>G (p.Met3883Arg) c.11630T>G (p.Met3877Arg) c.11558T>G (p.Met3853Arg) n.13971T>G n.12960T>G | |
12 | g.49033063A>G | CA384716984 | KMT2D | c.11642T>C (p.Met3881Thr) c.11651T>C (p.Met3884Thr) c.1202T>C (p.Met401Thr) c.3221T>C (p.Met1074Thr) c.11639T>C (p.Met3880Thr) c.3121T>C (n.3121T>C) c.11648T>C (p.Met3883Thr) c.11630T>C (p.Met3877Thr) c.11558T>C (p.Met3853Thr) n.13971T>C n.12960T>C | COSMIC COSMIC |
12 | g.49033063A>T | CA384716977 | KMT2D | c.11642T>A (p.Met3881Lys) c.11651T>A (p.Met3884Lys) c.1202T>A (p.Met401Lys) c.3221T>A (p.Met1074Lys) c.11639T>A (p.Met3880Lys) c.3121T>A (n.3121T>A) c.11648T>A (p.Met3883Lys) c.11630T>A (p.Met3877Lys) c.11558T>A (p.Met3853Lys) n.13971T>A n.12960T>A | |
12 | g.49033064T>A | CA384716996 | KMT2D | c.11641A>T (p.Met3881Leu) c.11650A>T (p.Met3884Leu) c.1201A>T (p.Met401Leu) c.3220A>T (p.Met1074Leu) c.11638A>T (p.Met3880Leu) c.3120A>T (n.3120A>T) c.11647A>T (p.Met3883Leu) c.11629A>T (p.Met3877Leu) c.11557A>T (p.Met3853Leu) n.13970A>T n.12959A>T | |
12 | g.49033064T>C | CA206526 | KMT2D | c.11641A>G (p.Met3881Val) c.11650A>G (p.Met3884Val) c.1201A>G (p.Met401Val) c.3220A>G (p.Met1074Val) c.11638A>G (p.Met3880Val) c.3120A>G (n.3120A>G) c.11647A>G (p.Met3883Val) c.11629A>G (p.Met3877Val) c.11557A>G (p.Met3853Val) n.13970A>G n.12959A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033064T>G | CA384717001 | KMT2D | c.11641A>C (p.Met3881Leu) c.11650A>C (p.Met3884Leu) c.1201A>C (p.Met401Leu) c.3220A>C (p.Met1074Leu) c.11638A>C (p.Met3880Leu) c.3120A>C (n.3120A>C) c.11647A>C (p.Met3883Leu) c.11629A>C (p.Met3877Leu) c.11557A>C (p.Met3853Leu) n.13970A>C n.12959A>C | |
12 | g.49033064T= | CA2034946629 | KMT2D | c.11641A= (p.Met3881=) c.11650A= (p.Met3884=) c.1201A= (p.Met401=) c.3220A= (p.Met1074=) c.11638A= (p.Met3880=) c.3120A= (n.3120A=) c.11647A= (p.Met3883=) c.11629A= (p.Met3877=) c.11557A= (p.Met3853=) n.13970A= n.12959A= | |
12 | g.49033065del | CA2695216397 | KMT2D | c.11640del (p.Met3881CysfsTer9) c.11649del (p.Met3884CysfsTer9) c.1200del (p.Met401CysfsTer9) c.3219del (p.Met1074CysfsTer9) c.11637del (p.Met3880CysfsTer9) c.3119del (n.3119del) c.11646del (p.Met3883CysfsTer9) c.11628del (p.Met3877CysfsTer9) c.11556del (p.Met3853CysfsTer9) n.13969del n.12958del | |
12 | g.49033065C>A | CA479708839 | KMT2D | c.11640G>T (p.Leu3880=) c.11649G>T (p.Leu3883=) c.1200G>T (p.Leu400=) c.3219G>T (p.Leu1073=) c.11637G>T (p.Leu3879=) c.3119G>T (n.3119G>T) c.11646G>T (p.Leu3882=) c.11628G>T (p.Leu3876=) c.11556G>T (p.Leu3852=) n.13969G>T n.12958G>T | |
12 | g.49033065C>G | CA479708840 | KMT2D | c.11640G>C (p.Leu3880=) c.11649G>C (p.Leu3883=) c.1200G>C (p.Leu400=) c.3219G>C (p.Leu1073=) c.11637G>C (p.Leu3879=) c.3119G>C (n.3119G>C) c.11646G>C (p.Leu3882=) c.11628G>C (p.Leu3876=) c.11556G>C (p.Leu3852=) n.13969G>C n.12958G>C | |
12 | g.49033065C>T | CA479708841 | KMT2D | c.11640G>A (p.Leu3880=) c.11649G>A (p.Leu3883=) c.1200G>A (p.Leu400=) c.3219G>A (p.Leu1073=) c.11637G>A (p.Leu3879=) c.3119G>A (n.3119G>A) c.11646G>A (p.Leu3882=) c.11628G>A (p.Leu3876=) c.11556G>A (p.Leu3852=) n.13969G>A n.12958G>A | |
12 | g.49033066A>C | CA384717005 | KMT2D | c.11639T>G (p.Leu3880Arg) c.11648T>G (p.Leu3883Arg) c.1199T>G (p.Leu400Arg) c.3218T>G (p.Leu1073Arg) c.11636T>G (p.Leu3879Arg) c.3118T>G (n.3118T>G) c.11645T>G (p.Leu3882Arg) c.11627T>G (p.Leu3876Arg) c.11555T>G (p.Leu3852Arg) n.13968T>G n.12957T>G | |
12 | g.49033066A>G | CA384717025 | KMT2D | c.11639T>C (p.Leu3880Pro) c.11648T>C (p.Leu3883Pro) c.1199T>C (p.Leu400Pro) c.3218T>C (p.Leu1073Pro) c.11636T>C (p.Leu3879Pro) c.3118T>C (n.3118T>C) c.11645T>C (p.Leu3882Pro) c.11627T>C (p.Leu3876Pro) c.11555T>C (p.Leu3852Pro) n.13968T>C n.12957T>C | |
12 | g.49033066A>T | CA384717028 | KMT2D | c.11639T>A (p.Leu3880Gln) c.11648T>A (p.Leu3883Gln) c.1199T>A (p.Leu400Gln) c.3218T>A (p.Leu1073Gln) c.11636T>A (p.Leu3879Gln) c.3118T>A (n.3118T>A) c.11645T>A (p.Leu3882Gln) c.11627T>A (p.Leu3876Gln) c.11555T>A (p.Leu3852Gln) n.13968T>A n.12957T>A | gnomAD v4 |
12 | g.49033067G>A | CA479708843 | KMT2D | c.11638C>T (p.Leu3880=) c.11647C>T (p.Leu3883=) c.1198C>T (p.Leu400=) c.3217C>T (p.Leu1073=) c.11635C>T (p.Leu3879=) c.3117C>T (n.3117C>T) c.11644C>T (p.Leu3882=) c.11626C>T (p.Leu3876=) c.11554C>T (p.Leu3852=) n.13967C>T n.12956C>T | |
12 | g.49033067G>C | CA384717032 | KMT2D | c.11638C>G (p.Leu3880Val) c.11647C>G (p.Leu3883Val) c.1198C>G (p.Leu400Val) c.3217C>G (p.Leu1073Val) c.11635C>G (p.Leu3879Val) c.3117C>G (n.3117C>G) c.11644C>G (p.Leu3882Val) c.11626C>G (p.Leu3876Val) c.11554C>G (p.Leu3852Val) n.13967C>G n.12956C>G | |
12 | g.49033067G>T | CA384717038 | KMT2D | c.11638C>A (p.Leu3880Met) c.11647C>A (p.Leu3883Met) c.1198C>A (p.Leu400Met) c.3217C>A (p.Leu1073Met) c.11635C>A (p.Leu3879Met) c.3117C>A (n.3117C>A) c.11644C>A (p.Leu3882Met) c.11626C>A (p.Leu3876Met) c.11554C>A (p.Leu3852Met) n.13967C>A n.12956C>A | |
12 | g.49033068A= | CA2034946631 | KMT2D | c.11637T= (p.Ser3879=) c.11646T= (p.Ser3882=) c.1197T= (p.Ser399=) c.3216T= (p.Ser1072=) c.11634T= (p.Ser3878=) c.3116T= (n.3116T=) c.11643T= (p.Ser3881=) c.11625T= (p.Ser3875=) c.11553T= (p.Ser3851=) n.13966T= n.12955T= | |
12 | g.49033068A>C | CA384717041 | KMT2D | c.11637T>G (p.Ser3879Arg) c.11646T>G (p.Ser3882Arg) c.1197T>G (p.Ser399Arg) c.3216T>G (p.Ser1072Arg) c.11634T>G (p.Ser3878Arg) c.3116T>G (n.3116T>G) c.11643T>G (p.Ser3881Arg) c.11625T>G (p.Ser3875Arg) c.11553T>G (p.Ser3851Arg) n.13966T>G n.12955T>G | dbSNP |
12 | g.49033068A>G | CA479708847 | KMT2D | c.11637T>C (p.Ser3879=) c.11646T>C (p.Ser3882=) c.1197T>C (p.Ser399=) c.3216T>C (p.Ser1072=) c.11634T>C (p.Ser3878=) c.3116T>C (n.3116T>C) c.11643T>C (p.Ser3881=) c.11625T>C (p.Ser3875=) c.11553T>C (p.Ser3851=) n.13966T>C n.12955T>C | |
12 | g.49033068A>T | CA384717042 | KMT2D | c.11637T>A (p.Ser3879Arg) c.11646T>A (p.Ser3882Arg) c.1197T>A (p.Ser399Arg) c.3216T>A (p.Ser1072Arg) c.11634T>A (p.Ser3878Arg) c.3116T>A (n.3116T>A) c.11643T>A (p.Ser3881Arg) c.11625T>A (p.Ser3875Arg) c.11553T>A (p.Ser3851Arg) n.13966T>A n.12955T>A | |
12 | g.49033068_49033070delinsACT | CA2034946630 | KMT2D | c.11635_11637delinsAGT (p.Ser3879=) c.11644_11646delinsAGT (p.Ser3882=) c.1195_1197delinsAGT (p.Ser399=) c.3214_3216delinsAGT (p.Ser1072=) c.11632_11634delinsAGT (p.Ser3878=) c.3114_3116delinsAGT (n.3114_3116delinsAGT) c.11641_11643delinsAGT (p.Ser3881=) c.11623_11625delinsAGT (p.Ser3875=) c.11551_11553delinsAGT (p.Ser3851=) n.13964_13966delinsAGT n.12953_12955delinsAGT | |
12 | g.49033069C>A | CA384717045 | KMT2D | c.11636G>T (p.Ser3879Ile) c.11645G>T (p.Ser3882Ile) c.1196G>T (p.Ser399Ile) c.3215G>T (p.Ser1072Ile) c.11633G>T (p.Ser3878Ile) c.3115G>T (n.3115G>T) c.11642G>T (p.Ser3881Ile) c.11624G>T (p.Ser3875Ile) c.11552G>T (p.Ser3851Ile) n.13965G>T n.12954G>T | |
12 | g.49033069C>G | CA384717046 | KMT2D | c.11636G>C (p.Ser3879Thr) c.11645G>C (p.Ser3882Thr) c.1196G>C (p.Ser399Thr) c.3215G>C (p.Ser1072Thr) c.11633G>C (p.Ser3878Thr) c.3115G>C (n.3115G>C) c.11642G>C (p.Ser3881Thr) c.11624G>C (p.Ser3875Thr) c.11552G>C (p.Ser3851Thr) n.13965G>C n.12954G>C | |
12 | g.49033069C>T | CA384717049 | KMT2D | c.11636G>A (p.Ser3879Asn) c.11645G>A (p.Ser3882Asn) c.1196G>A (p.Ser399Asn) c.3215G>A (p.Ser1072Asn) c.11633G>A (p.Ser3878Asn) c.3115G>A (n.3115G>A) c.11642G>A (p.Ser3881Asn) c.11624G>A (p.Ser3875Asn) c.11552G>A (p.Ser3851Asn) n.13965G>A n.12954G>A | |
12 | g.49033071_49033072del | CA658823394 | KMT2D | c.11635_11636del (p.Leu3880AspfsTer?) c.11644_11645del (p.Leu3883AspfsTer?) c.1195_1196del (p.Leu400AspfsTer?) c.3214_3215del (p.Leu1073AspfsTer?) c.11632_11633del (p.Leu3879AspfsTer?) c.3114_3115del (n.3114_3115del) c.11641_11642del (p.Leu3882AspfsTer?) c.11623_11624del (p.Leu3876AspfsTer?) c.11551_11552del (p.Leu3852AspfsTer?) n.13964_13965del n.12953_12954del | ClinVar dbSNP |
12 | g.49033071_49033075del | CA2695216398 | KMT2D | c.11632_11636del (p.Gln3878SerfsTer?) c.11641_11645del (p.Gln3881SerfsTer?) c.1192_1196del (p.Gln398SerfsTer?) c.3211_3215del (p.Gln1071SerfsTer?) c.11629_11633del (p.Gln3877SerfsTer?) c.3111_3115del (n.3111_3115del) c.11638_11642del (p.Gln3880SerfsTer?) c.11620_11624del (p.Gln3874SerfsTer?) c.11548_11552del (p.Gln3850SerfsTer?) n.13961_13965del n.12950_12954del | |
12 | g.49033070T>A | CA384717059 | KMT2D | c.11635A>T (p.Ser3879Cys) c.11644A>T (p.Ser3882Cys) c.1195A>T (p.Ser399Cys) c.3214A>T (p.Ser1072Cys) c.11632A>T (p.Ser3878Cys) c.3114A>T (n.3114A>T) c.11641A>T (p.Ser3881Cys) c.11623A>T (p.Ser3875Cys) c.11551A>T (p.Ser3851Cys) n.13964A>T n.12953A>T | gnomAD v4 |
12 | g.49033070T>C | CA384717057 | KMT2D | c.11635A>G (p.Ser3879Gly) c.11644A>G (p.Ser3882Gly) c.1195A>G (p.Ser399Gly) c.3214A>G (p.Ser1072Gly) c.11632A>G (p.Ser3878Gly) c.3114A>G (n.3114A>G) c.11641A>G (p.Ser3881Gly) c.11623A>G (p.Ser3875Gly) c.11551A>G (p.Ser3851Gly) n.13964A>G n.12953A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033070T>G | CA384717053 | KMT2D | c.11635A>C (p.Ser3879Arg) c.11644A>C (p.Ser3882Arg) c.1195A>C (p.Ser399Arg) c.3214A>C (p.Ser1072Arg) c.11632A>C (p.Ser3878Arg) c.3114A>C (n.3114A>C) c.11641A>C (p.Ser3881Arg) c.11623A>C (p.Ser3875Arg) c.11551A>C (p.Ser3851Arg) n.13964A>C n.12953A>C | |
12 | g.49033070T= | CA2034946632 | KMT2D | c.11635A= (p.Ser3879=) c.11644A= (p.Ser3882=) c.1195A= (p.Ser399=) c.3214A= (p.Ser1072=) c.11632A= (p.Ser3878=) c.3114A= (n.3114A=) c.11641A= (p.Ser3881=) c.11623A= (p.Ser3875=) c.11551A= (p.Ser3851=) n.13964A= n.12953A= | |
12 | g.49033071C>A | CA384717063 | KMT2D | c.11634G>T (p.Gln3878His) c.11643G>T (p.Gln3881His) c.1194G>T (p.Gln398His) c.3213G>T (p.Gln1071His) c.11631G>T (p.Gln3877His) c.3113G>T (n.3113G>T) c.11640G>T (p.Gln3880His) c.11622G>T (p.Gln3874His) c.11550G>T (p.Gln3850His) n.13963G>T n.12952G>T | |
12 | g.49033071C>G | CA384717066 | KMT2D | c.11634G>C (p.Gln3878His) c.11643G>C (p.Gln3881His) c.1194G>C (p.Gln398His) c.3213G>C (p.Gln1071His) c.11631G>C (p.Gln3877His) c.3113G>C (n.3113G>C) c.11640G>C (p.Gln3880His) c.11622G>C (p.Gln3874His) c.11550G>C (p.Gln3850His) n.13963G>C n.12952G>C | gnomAD v4 |
12 | g.49033071C>T | CA479708851 | KMT2D | c.11634G>A (p.Gln3878=) c.11643G>A (p.Gln3881=) c.1194G>A (p.Gln398=) c.3213G>A (p.Gln1071=) c.11631G>A (p.Gln3877=) c.3113G>A (n.3113G>A) c.11640G>A (p.Gln3880=) c.11622G>A (p.Gln3874=) c.11550G>A (p.Gln3850=) n.13963G>A n.12952G>A | |
12 | g.49033074_49033076del | CA2841535269 | KMT2D | c.11632_11634del (p.Gln3878del) c.11641_11643del (p.Gln3881del) c.1192_1194del (p.Gln398del) c.3211_3213del (p.Gln1071del) c.11629_11631del (p.Gln3877del) c.3111_3113del (n.3111_3113del) c.11638_11640del (p.Gln3880del) c.11620_11622del (p.Gln3874del) c.11548_11550del (p.Gln3850del) n.13961_13963del n.12950_12952del | |
12 | g.49033072T>A | CA384717071 | KMT2D | c.11633A>T (p.Gln3878Leu) c.11642A>T (p.Gln3881Leu) c.1193A>T (p.Gln398Leu) c.3212A>T (p.Gln1071Leu) c.11630A>T (p.Gln3877Leu) c.3112A>T (n.3112A>T) c.11639A>T (p.Gln3880Leu) c.11621A>T (p.Gln3874Leu) c.11549A>T (p.Gln3850Leu) n.13962A>T n.12951A>T | |
12 | g.49033072T>C | CA384717073 | KMT2D | c.11633A>G (p.Gln3878Arg) c.11642A>G (p.Gln3881Arg) c.1193A>G (p.Gln398Arg) c.3212A>G (p.Gln1071Arg) c.11630A>G (p.Gln3877Arg) c.3112A>G (n.3112A>G) c.11639A>G (p.Gln3880Arg) c.11621A>G (p.Gln3874Arg) c.11549A>G (p.Gln3850Arg) n.13962A>G n.12951A>G | |
12 | g.49033072T>G | CA384717078 | KMT2D | c.11633A>C (p.Gln3878Pro) c.11642A>C (p.Gln3881Pro) c.1193A>C (p.Gln398Pro) c.3212A>C (p.Gln1071Pro) c.11630A>C (p.Gln3877Pro) c.3112A>C (n.3112A>C) c.11639A>C (p.Gln3880Pro) c.11621A>C (p.Gln3874Pro) c.11549A>C (p.Gln3850Pro) n.13962A>C n.12951A>C | |
12 | g.49033073G>A | CA384717081 | KMT2D | c.11632C>T (p.Gln3878Ter) c.11641C>T (p.Gln3881Ter) c.1192C>T (p.Gln398Ter) c.3211C>T (p.Gln1071Ter) c.11629C>T (p.Gln3877Ter) c.3111C>T (n.3111C>T) c.11638C>T (p.Gln3880Ter) c.11620C>T (p.Gln3874Ter) c.11548C>T (p.Gln3850Ter) n.13961C>T n.12950C>T | ClinVar dbSNP gnomAD v2 |
12 | g.49033073G>C | CA384717083 | KMT2D | c.11632C>G (p.Gln3878Glu) c.11641C>G (p.Gln3881Glu) c.1192C>G (p.Gln398Glu) c.3211C>G (p.Gln1071Glu) c.11629C>G (p.Gln3877Glu) c.3111C>G (n.3111C>G) c.11638C>G (p.Gln3880Glu) c.11620C>G (p.Gln3874Glu) c.11548C>G (p.Gln3850Glu) n.13961C>G n.12950C>G | |
12 | g.49033073G= | CA2034946633 | KMT2D | c.11632C= (p.Gln3878=) c.11641C= (p.Gln3881=) c.1192C= (p.Gln398=) c.3211C= (p.Gln1071=) c.11629C= (p.Gln3877=) c.3111C= (n.3111C=) c.11638C= (p.Gln3880=) c.11620C= (p.Gln3874=) c.11548C= (p.Gln3850=) n.13961C= n.12950C= | |
12 | g.49033073G>T | CA384717085 | KMT2D | c.11632C>A (p.Gln3878Lys) c.11641C>A (p.Gln3881Lys) c.1192C>A (p.Gln398Lys) c.3211C>A (p.Gln1071Lys) c.11629C>A (p.Gln3877Lys) c.3111C>A (n.3111C>A) c.11638C>A (p.Gln3880Lys) c.11620C>A (p.Gln3874Lys) c.11548C>A (p.Gln3850Lys) n.13961C>A n.12950C>A | |
12 | g.49033074C>A | CA384717088 | KMT2D | c.11631G>T (p.Gln3877His) c.11640G>T (p.Gln3880His) c.1191G>T (p.Gln397His) c.3210G>T (p.Gln1070His) c.11628G>T (p.Gln3876His) c.3110G>T (n.3110G>T) c.11637G>T (p.Gln3879His) c.11619G>T (p.Gln3873His) c.11547G>T (p.Gln3849His) n.13960G>T n.12949G>T | dbSNP gnomAD v4 |
12 | g.49033074C>G | CA384717091 | KMT2D | c.11631G>C (p.Gln3877His) c.11640G>C (p.Gln3880His) c.1191G>C (p.Gln397His) c.3210G>C (p.Gln1070His) c.11628G>C (p.Gln3876His) c.3110G>C (n.3110G>C) c.11637G>C (p.Gln3879His) c.11619G>C (p.Gln3873His) c.11547G>C (p.Gln3849His) n.13960G>C n.12949G>C | |
12 | g.49033074C>T | CA479709036 | KMT2D | c.11631G>A (p.Gln3877=) c.11640G>A (p.Gln3880=) c.1191G>A (p.Gln397=) c.3210G>A (p.Gln1070=) c.11628G>A (p.Gln3876=) c.3110G>A (n.3110G>A) c.11637G>A (p.Gln3879=) c.11619G>A (p.Gln3873=) c.11547G>A (p.Gln3849=) n.13960G>A n.12949G>A | dbSNP |
12 | g.49033075T>A | CA384717094 | KMT2D | c.11630A>T (p.Gln3877Leu) c.11639A>T (p.Gln3880Leu) c.1190A>T (p.Gln397Leu) c.3209A>T (p.Gln1070Leu) c.11627A>T (p.Gln3876Leu) c.3109A>T (n.3109A>T) c.11636A>T (p.Gln3879Leu) c.11618A>T (p.Gln3873Leu) c.11546A>T (p.Gln3849Leu) n.13959A>T n.12948A>T | gnomAD v4 |
12 | g.49033075T>C | CA384717096 | KMT2D | c.11630A>G (p.Gln3877Arg) c.11639A>G (p.Gln3880Arg) c.1190A>G (p.Gln397Arg) c.3209A>G (p.Gln1070Arg) c.11627A>G (p.Gln3876Arg) c.3109A>G (n.3109A>G) c.11636A>G (p.Gln3879Arg) c.11618A>G (p.Gln3873Arg) c.11546A>G (p.Gln3849Arg) n.13959A>G n.12948A>G | ClinVar |
12 | g.49033075T>G | CA384717099 | KMT2D | c.11630A>C (p.Gln3877Pro) c.11639A>C (p.Gln3880Pro) c.1190A>C (p.Gln397Pro) c.3209A>C (p.Gln1070Pro) c.11627A>C (p.Gln3876Pro) c.3109A>C (n.3109A>C) c.11636A>C (p.Gln3879Pro) c.11618A>C (p.Gln3873Pro) c.11546A>C (p.Gln3849Pro) n.13959A>C n.12948A>C | |
12 | g.49033076G>A | CA384717113 | KMT2D | c.11629C>T (p.Gln3877Ter) c.11638C>T (p.Gln3880Ter) c.1189C>T (p.Gln397Ter) c.3208C>T (p.Gln1070Ter) c.11626C>T (p.Gln3876Ter) c.3108C>T (n.3108C>T) c.11635C>T (p.Gln3879Ter) c.11617C>T (p.Gln3873Ter) c.11545C>T (p.Gln3849Ter) n.13958C>T n.12947C>T | dbSNP |
12 | g.49033076G>C | CA384717111 | KMT2D | c.11629C>G (p.Gln3877Glu) c.11638C>G (p.Gln3880Glu) c.1189C>G (p.Gln397Glu) c.3208C>G (p.Gln1070Glu) c.11626C>G (p.Gln3876Glu) c.3108C>G (n.3108C>G) c.11635C>G (p.Gln3879Glu) c.11617C>G (p.Gln3873Glu) c.11545C>G (p.Gln3849Glu) n.13958C>G n.12947C>G | |
12 | g.49033076G>T | CA384717108 | KMT2D | c.11629C>A (p.Gln3877Lys) c.11638C>A (p.Gln3880Lys) c.1189C>A (p.Gln397Lys) c.3208C>A (p.Gln1070Lys) c.11626C>A (p.Gln3876Lys) c.3108C>A (n.3108C>A) c.11635C>A (p.Gln3879Lys) c.11617C>A (p.Gln3873Lys) c.11545C>A (p.Gln3849Lys) n.13958C>A n.12947C>A | |
12 | g.49033077A>C | CA479709046 | KMT2D | c.11628T>G (p.Leu3876=) c.11637T>G (p.Leu3879=) c.1188T>G (p.Leu396=) c.3207T>G (p.Leu1069=) c.11625T>G (p.Leu3875=) c.3107T>G (n.3107T>G) c.11634T>G (p.Leu3878=) c.11616T>G (p.Leu3872=) c.11544T>G (p.Leu3848=) n.13957T>G n.12946T>G | |
12 | g.49033077A>G | CA479709047 | KMT2D | c.11628T>C (p.Leu3876=) c.11637T>C (p.Leu3879=) c.1188T>C (p.Leu396=) c.3207T>C (p.Leu1069=) c.11625T>C (p.Leu3875=) c.3107T>C (n.3107T>C) c.11634T>C (p.Leu3878=) c.11616T>C (p.Leu3872=) c.11544T>C (p.Leu3848=) n.13957T>C n.12946T>C | |
12 | g.49033077A>T | CA479709049 | KMT2D | c.11628T>A (p.Leu3876=) c.11637T>A (p.Leu3879=) c.1188T>A (p.Leu396=) c.3207T>A (p.Leu1069=) c.11625T>A (p.Leu3875=) c.3107T>A (n.3107T>A) c.11634T>A (p.Leu3878=) c.11616T>A (p.Leu3872=) c.11544T>A (p.Leu3848=) n.13957T>A n.12946T>A | |
12 | g.49033078A= | CA2034946634 | KMT2D | c.11627T= (p.Leu3876=) c.11636T= (p.Leu3879=) c.1187T= (p.Leu396=) c.3206T= (p.Leu1069=) c.11624T= (p.Leu3875=) c.3106T= (n.3106T=) c.11633T= (p.Leu3878=) c.11615T= (p.Leu3872=) c.11543T= (p.Leu3848=) n.13956T= n.12945T= | |
12 | g.49033078A>C | CA384717114 | KMT2D | c.11627T>G (p.Leu3876Arg) c.11636T>G (p.Leu3879Arg) c.1187T>G (p.Leu396Arg) c.3206T>G (p.Leu1069Arg) c.11624T>G (p.Leu3875Arg) c.3106T>G (n.3106T>G) c.11633T>G (p.Leu3878Arg) c.11615T>G (p.Leu3872Arg) c.11543T>G (p.Leu3848Arg) n.13956T>G n.12945T>G | ClinVar dbSNP gnomAD v4 |
12 | g.49033078A>G | CA384717115 | KMT2D | c.11627T>C (p.Leu3876Pro) c.11636T>C (p.Leu3879Pro) c.1187T>C (p.Leu396Pro) c.3206T>C (p.Leu1069Pro) c.11624T>C (p.Leu3875Pro) c.3106T>C (n.3106T>C) c.11633T>C (p.Leu3878Pro) c.11615T>C (p.Leu3872Pro) c.11543T>C (p.Leu3848Pro) n.13956T>C n.12945T>C | |
12 | g.49033078A>T | CA384717116 | KMT2D | c.11627T>A (p.Leu3876His) c.11636T>A (p.Leu3879His) c.1187T>A (p.Leu396His) c.3206T>A (p.Leu1069His) c.11624T>A (p.Leu3875His) c.3106T>A (n.3106T>A) c.11633T>A (p.Leu3878His) c.11615T>A (p.Leu3872His) c.11543T>A (p.Leu3848His) n.13956T>A n.12945T>A | ClinVar |
12 | g.49033079G>A | CA384717117 | KMT2D | c.11626C>T (p.Leu3876Phe) c.11635C>T (p.Leu3879Phe) c.1186C>T (p.Leu396Phe) c.3205C>T (p.Leu1069Phe) c.11623C>T (p.Leu3875Phe) c.3105C>T (n.3105C>T) c.11632C>T (p.Leu3878Phe) c.11614C>T (p.Leu3872Phe) c.11542C>T (p.Leu3848Phe) n.13955C>T n.12944C>T | gnomAD v4 |
12 | g.49033079G>C | CA384717119 | KMT2D | c.11626C>G (p.Leu3876Val) c.11635C>G (p.Leu3879Val) c.1186C>G (p.Leu396Val) c.3205C>G (p.Leu1069Val) c.11623C>G (p.Leu3875Val) c.3105C>G (n.3105C>G) c.11632C>G (p.Leu3878Val) c.11614C>G (p.Leu3872Val) c.11542C>G (p.Leu3848Val) n.13955C>G n.12944C>G | COSMIC COSMIC |
12 | g.49033079G>T | CA384717123 | KMT2D | c.11626C>A (p.Leu3876Ile) c.11635C>A (p.Leu3879Ile) c.1186C>A (p.Leu396Ile) c.3205C>A (p.Leu1069Ile) c.11623C>A (p.Leu3875Ile) c.3105C>A (n.3105C>A) c.11632C>A (p.Leu3878Ile) c.11614C>A (p.Leu3872Ile) c.11542C>A (p.Leu3848Ile) n.13955C>A n.12944C>A | gnomAD v4 |
12 | g.49033080A= | CA2034946635 | KMT2D | c.11625T= (p.His3875=) c.11634T= (p.His3878=) c.1185T= (p.His395=) c.3204T= (p.His1068=) c.11622T= (p.His3874=) c.3104T= (n.3104T=) c.11631T= (p.His3877=) c.11613T= (p.His3871=) c.11541T= (p.His3847=) n.13954T= n.12943T= | |
12 | g.49033080A>C | CA384717127 | KMT2D | c.11625T>G (p.His3875Gln) c.11634T>G (p.His3878Gln) c.1185T>G (p.His395Gln) c.3204T>G (p.His1068Gln) c.11622T>G (p.His3874Gln) c.3104T>G (n.3104T>G) c.11631T>G (p.His3877Gln) c.11613T>G (p.His3871Gln) c.11541T>G (p.His3847Gln) n.13954T>G n.12943T>G | |
12 | g.49033080A>G | CA479709061 | KMT2D | c.11625T>C (p.His3875=) c.11634T>C (p.His3878=) c.1185T>C (p.His395=) c.3204T>C (p.His1068=) c.11622T>C (p.His3874=) c.3104T>C (n.3104T>C) c.11631T>C (p.His3877=) c.11613T>C (p.His3871=) c.11541T>C (p.His3847=) n.13954T>C n.12943T>C | |
12 | g.49033080A>T | CA384717129 | KMT2D | c.11625T>A (p.His3875Gln) c.11634T>A (p.His3878Gln) c.1185T>A (p.His395Gln) c.3204T>A (p.His1068Gln) c.11622T>A (p.His3874Gln) c.3104T>A (n.3104T>A) c.11631T>A (p.His3877Gln) c.11613T>A (p.His3871Gln) c.11541T>A (p.His3847Gln) n.13954T>A n.12943T>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033081T>A | CA384717134 | KMT2D | c.11624A>T (p.His3875Leu) c.11633A>T (p.His3878Leu) c.1184A>T (p.His395Leu) c.3203A>T (p.His1068Leu) c.11621A>T (p.His3874Leu) c.3103A>T (n.3103A>T) c.11630A>T (p.His3877Leu) c.11612A>T (p.His3871Leu) c.11540A>T (p.His3847Leu) n.13953A>T n.12942A>T | |
12 | g.49033081T>C | CA384717135 | KMT2D | c.11624A>G (p.His3875Arg) c.11633A>G (p.His3878Arg) c.1184A>G (p.His395Arg) c.3203A>G (p.His1068Arg) c.11621A>G (p.His3874Arg) c.3103A>G (n.3103A>G) c.11630A>G (p.His3877Arg) c.11612A>G (p.His3871Arg) c.11540A>G (p.His3847Arg) n.13953A>G n.12942A>G | |
12 | g.49033081T>G | CA384717136 | KMT2D | c.11624A>C (p.His3875Pro) c.11633A>C (p.His3878Pro) c.1184A>C (p.His395Pro) c.3203A>C (p.His1068Pro) c.11621A>C (p.His3874Pro) c.3103A>C (n.3103A>C) c.11630A>C (p.His3877Pro) c.11612A>C (p.His3871Pro) c.11540A>C (p.His3847Pro) n.13953A>C n.12942A>C | ClinVar dbSNP |
12 | g.49033081T= | CA2034946636 | KMT2D | c.11624A= (p.His3875=) c.11633A= (p.His3878=) c.1184A= (p.His395=) c.3203A= (p.His1068=) c.11621A= (p.His3874=) c.3103A= (n.3103A=) c.11630A= (p.His3877=) c.11612A= (p.His3871=) c.11540A= (p.His3847=) n.13953A= n.12942A= | |
12 | g.49033082G>A | CA384717137 | KMT2D | c.11623C>T (p.His3875Tyr) c.11632C>T (p.His3878Tyr) c.1183C>T (p.His395Tyr) c.3202C>T (p.His1068Tyr) c.11620C>T (p.His3874Tyr) c.3102C>T (n.3102C>T) c.11629C>T (p.His3877Tyr) c.11611C>T (p.His3871Tyr) c.11539C>T (p.His3847Tyr) n.13952C>T n.12941C>T | |
12 | g.49033082G>C | CA384717141 | KMT2D | c.11623C>G (p.His3875Asp) c.11632C>G (p.His3878Asp) c.1183C>G (p.His395Asp) c.3202C>G (p.His1068Asp) c.11620C>G (p.His3874Asp) c.3102C>G (n.3102C>G) c.11629C>G (p.His3877Asp) c.11611C>G (p.His3871Asp) c.11539C>G (p.His3847Asp) n.13952C>G n.12941C>G | |
12 | g.49033082G>T | CA384717144 | KMT2D | c.11623C>A (p.His3875Asn) c.11632C>A (p.His3878Asn) c.1183C>A (p.His395Asn) c.3202C>A (p.His1068Asn) c.11620C>A (p.His3874Asn) c.3102C>A (n.3102C>A) c.11629C>A (p.His3877Asn) c.11611C>A (p.His3871Asn) c.11539C>A (p.His3847Asn) n.13952C>A n.12941C>A | gnomAD v4 |
12 | g.49033084del | CA2618606255 | KMT2D | c.11623del (p.His3875IlefsTer6) c.11632del (p.His3878IlefsTer6) c.1183del (p.His395IlefsTer6) c.3202del (p.His1068IlefsTer6) c.11620del (p.His3874IlefsTer6) c.3102del (n.3102del) c.11629del (p.His3877IlefsTer6) c.11611del (p.His3871IlefsTer6) c.11539del (p.His3847IlefsTer6) n.13952del n.12941del | gnomAD v4 |
12 | g.49033083G>A | CA479709068 | KMT2D | c.11622C>T (p.Ser3874=) c.11631C>T (p.Ser3877=) c.1182C>T (p.Ser394=) c.3201C>T (p.Ser1067=) c.11619C>T (p.Ser3873=) c.3101C>T (n.3101C>T) c.11628C>T (p.Ser3876=) c.11610C>T (p.Ser3870=) c.11538C>T (p.Ser3846=) n.13951C>T n.12940C>T | |
12 | g.49033083G>C | CA479709070 | KMT2D | c.11622C>G (p.Ser3874=) c.11631C>G (p.Ser3877=) c.1182C>G (p.Ser394=) c.3201C>G (p.Ser1067=) c.11619C>G (p.Ser3873=) c.3101C>G (n.3101C>G) c.11628C>G (p.Ser3876=) c.11610C>G (p.Ser3870=) c.11538C>G (p.Ser3846=) n.13951C>G n.12940C>G | |
12 | g.49033083G>T | CA479709071 | KMT2D | c.11622C>A (p.Ser3874=) c.11631C>A (p.Ser3877=) c.1182C>A (p.Ser394=) c.3201C>A (p.Ser1067=) c.11619C>A (p.Ser3873=) c.3101C>A (n.3101C>A) c.11628C>A (p.Ser3876=) c.11610C>A (p.Ser3870=) c.11538C>A (p.Ser3846=) n.13951C>A n.12940C>A | gnomAD v4 |
12 | g.49033084G>A | CA384717149 | KMT2D | c.11621C>T (p.Ser3874Phe) c.11630C>T (p.Ser3877Phe) c.1181C>T (p.Ser394Phe) c.3200C>T (p.Ser1067Phe) c.11618C>T (p.Ser3873Phe) c.3100C>T (n.3100C>T) c.11627C>T (p.Ser3876Phe) c.11609C>T (p.Ser3870Phe) c.11537C>T (p.Ser3846Phe) n.13950C>T n.12939C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033084G>C | CA384717153 | KMT2D | c.11621C>G (p.Ser3874Cys) c.11630C>G (p.Ser3877Cys) c.1181C>G (p.Ser394Cys) c.3200C>G (p.Ser1067Cys) c.11618C>G (p.Ser3873Cys) c.3100C>G (n.3100C>G) c.11627C>G (p.Ser3876Cys) c.11609C>G (p.Ser3870Cys) c.11537C>G (p.Ser3846Cys) n.13950C>G n.12939C>G | |
12 | g.49033084G= | CA2034946637 | KMT2D | c.11621C= (p.Ser3874=) c.11630C= (p.Ser3877=) c.1181C= (p.Ser394=) c.3200C= (p.Ser1067=) c.11618C= (p.Ser3873=) c.3100C= (n.3100C=) c.11627C= (p.Ser3876=) c.11609C= (p.Ser3870=) c.11537C= (p.Ser3846=) n.13950C= n.12939C= | |
12 | g.49033084G>T | CA384717148 | KMT2D | c.11621C>A (p.Ser3874Tyr) c.11630C>A (p.Ser3877Tyr) c.1181C>A (p.Ser394Tyr) c.3200C>A (p.Ser1067Tyr) c.11618C>A (p.Ser3873Tyr) c.3100C>A (n.3100C>A) c.11627C>A (p.Ser3876Tyr) c.11609C>A (p.Ser3870Tyr) c.11537C>A (p.Ser3846Tyr) n.13950C>A n.12939C>A | |
12 | g.49033085A>C | CA384717159 | KMT2D | c.11620T>G (p.Ser3874Ala) c.11629T>G (p.Ser3877Ala) c.1180T>G (p.Ser394Ala) c.3199T>G (p.Ser1067Ala) c.11617T>G (p.Ser3873Ala) c.3099T>G (n.3099T>G) c.11626T>G (p.Ser3876Ala) c.11608T>G (p.Ser3870Ala) c.11536T>G (p.Ser3846Ala) n.13949T>G n.12938T>G | |
12 | g.49033085A>G | CA384717160 | KMT2D | c.11620T>C (p.Ser3874Pro) c.11629T>C (p.Ser3877Pro) c.1180T>C (p.Ser394Pro) c.3199T>C (p.Ser1067Pro) c.11617T>C (p.Ser3873Pro) c.3099T>C (n.3099T>C) c.11626T>C (p.Ser3876Pro) c.11608T>C (p.Ser3870Pro) c.11536T>C (p.Ser3846Pro) n.13949T>C n.12938T>C | |
12 | g.49033085A>T | CA384717161 | KMT2D | c.11620T>A (p.Ser3874Thr) c.11629T>A (p.Ser3877Thr) c.1180T>A (p.Ser394Thr) c.3199T>A (p.Ser1067Thr) c.11617T>A (p.Ser3873Thr) c.3099T>A (n.3099T>A) c.11626T>A (p.Ser3876Thr) c.11608T>A (p.Ser3870Thr) c.11536T>A (p.Ser3846Thr) n.13949T>A n.12938T>A | |
12 | g.49033086C>A | CA479709076 | KMT2D | c.11619G>T (p.Leu3873=) c.11628G>T (p.Leu3876=) c.1179G>T (p.Leu393=) c.3198G>T (p.Leu1066=) c.11616G>T (p.Leu3872=) c.3098G>T (n.3098G>T) c.11625G>T (p.Leu3875=) c.11607G>T (p.Leu3869=) c.11535G>T (p.Leu3845=) n.13948G>T n.12937G>T | gnomAD v4 |
12 | g.49033086C>G | CA479709079 | KMT2D | c.11619G>C (p.Leu3873=) c.11628G>C (p.Leu3876=) c.1179G>C (p.Leu393=) c.3198G>C (p.Leu1066=) c.11616G>C (p.Leu3872=) c.3098G>C (n.3098G>C) c.11625G>C (p.Leu3875=) c.11607G>C (p.Leu3869=) c.11535G>C (p.Leu3845=) n.13948G>C n.12937G>C | |
12 | g.49033086C>T | CA479709082 | KMT2D | c.11619G>A (p.Leu3873=) c.11628G>A (p.Leu3876=) c.1179G>A (p.Leu393=) c.3198G>A (p.Leu1066=) c.11616G>A (p.Leu3872=) c.3098G>A (n.3098G>A) c.11625G>A (p.Leu3875=) c.11607G>A (p.Leu3869=) c.11535G>A (p.Leu3845=) n.13948G>A n.12937G>A | dbSNP |
12 | g.49033087A= | CA2034946638 | KMT2D | c.11618T= (p.Leu3873=) c.11627T= (p.Leu3876=) c.1178T= (p.Leu393=) c.3197T= (p.Leu1066=) c.11615T= (p.Leu3872=) c.3097T= (n.3097T=) c.11624T= (p.Leu3875=) c.11606T= (p.Leu3869=) c.11534T= (p.Leu3845=) n.13947T= n.12936T= | |
12 | g.49033087A>C | CA384717162 | KMT2D | c.11618T>G (p.Leu3873Arg) c.11627T>G (p.Leu3876Arg) c.1178T>G (p.Leu393Arg) c.3197T>G (p.Leu1066Arg) c.11615T>G (p.Leu3872Arg) c.3097T>G (n.3097T>G) c.11624T>G (p.Leu3875Arg) c.11606T>G (p.Leu3869Arg) c.11534T>G (p.Leu3845Arg) n.13947T>G n.12936T>G | |
12 | g.49033087A>G | CA384717163 | KMT2D | c.11618T>C (p.Leu3873Pro) c.11627T>C (p.Leu3876Pro) c.1178T>C (p.Leu393Pro) c.3197T>C (p.Leu1066Pro) c.11615T>C (p.Leu3872Pro) c.3097T>C (n.3097T>C) c.11624T>C (p.Leu3875Pro) c.11606T>C (p.Leu3869Pro) c.11534T>C (p.Leu3845Pro) n.13947T>C n.12936T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033087A>T | CA384717164 | KMT2D | c.11618T>A (p.Leu3873Gln) c.11627T>A (p.Leu3876Gln) c.1178T>A (p.Leu393Gln) c.3197T>A (p.Leu1066Gln) c.11615T>A (p.Leu3872Gln) c.3097T>A (n.3097T>A) c.11624T>A (p.Leu3875Gln) c.11606T>A (p.Leu3869Gln) c.11534T>A (p.Leu3845Gln) n.13947T>A n.12936T>A | |
12 | g.49033088G>A | CA479709089 | KMT2D | c.11617C>T (p.Leu3873=) c.11626C>T (p.Leu3876=) c.1177C>T (p.Leu393=) c.3196C>T (p.Leu1066=) c.11614C>T (p.Leu3872=) c.3096C>T (n.3096C>T) c.11623C>T (p.Leu3875=) c.11605C>T (p.Leu3869=) c.11533C>T (p.Leu3845=) n.13946C>T n.12935C>T | dbSNP gnomAD v4 |
12 | g.49033088G>C | CA384717165 | KMT2D | c.11617C>G (p.Leu3873Val) c.11626C>G (p.Leu3876Val) c.1177C>G (p.Leu393Val) c.3196C>G (p.Leu1066Val) c.11614C>G (p.Leu3872Val) c.3096C>G (n.3096C>G) c.11623C>G (p.Leu3875Val) c.11605C>G (p.Leu3869Val) c.11533C>G (p.Leu3845Val) n.13946C>G n.12935C>G | |
12 | g.49033088G>T | CA384717166 | KMT2D | c.11617C>A (p.Leu3873Met) c.11626C>A (p.Leu3876Met) c.1177C>A (p.Leu393Met) c.3196C>A (p.Leu1066Met) c.11614C>A (p.Leu3872Met) c.3096C>A (n.3096C>A) c.11623C>A (p.Leu3875Met) c.11605C>A (p.Leu3869Met) c.11533C>A (p.Leu3845Met) n.13946C>A n.12935C>A | |
12 | g.49033089C>A | CA479709091 | KMT2D | c.11616G>T (p.Gly3872=) c.11625G>T (p.Gly3875=) c.1176G>T (p.Gly392=) c.3195G>T (p.Gly1065=) c.11613G>T (p.Gly3871=) c.3095G>T (n.3095G>T) c.11622G>T (p.Gly3874=) c.11604G>T (p.Gly3868=) c.11532G>T (p.Gly3844=) n.13945G>T n.12934G>T | |
12 | g.49033089C= | CA2034946639 | KMT2D | c.11616G= (p.Gly3872=) c.11625G= (p.Gly3875=) c.1176G= (p.Gly392=) c.3195G= (p.Gly1065=) c.11613G= (p.Gly3871=) c.3095G= (n.3095G=) c.11622G= (p.Gly3874=) c.11604G= (p.Gly3868=) c.11532G= (p.Gly3844=) n.13945G= n.12934G= | |
12 | g.49033089C>G | CA479709092 | KMT2D | c.11616G>C (p.Gly3872=) c.11625G>C (p.Gly3875=) c.1176G>C (p.Gly392=) c.3195G>C (p.Gly1065=) c.11613G>C (p.Gly3871=) c.3095G>C (n.3095G>C) c.11622G>C (p.Gly3874=) c.11604G>C (p.Gly3868=) c.11532G>C (p.Gly3844=) n.13945G>C n.12934G>C | dbSNP |
12 | g.49033089C>T | CA6546303 | KMT2D | c.11616G>A (p.Gly3872=) c.11625G>A (p.Gly3875=) c.1176G>A (p.Gly392=) c.3195G>A (p.Gly1065=) c.11613G>A (p.Gly3871=) c.3095G>A (n.3095G>A) c.11622G>A (p.Gly3874=) c.11604G>A (p.Gly3868=) c.11532G>A (p.Gly3844=) n.13945G>A n.12934G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033090C>A | CA384717167 | KMT2D | c.11615G>T (p.Gly3872Val) c.11624G>T (p.Gly3875Val) c.1175G>T (p.Gly392Val) c.3194G>T (p.Gly1065Val) c.11612G>T (p.Gly3871Val) c.3094G>T (n.3094G>T) c.11621G>T (p.Gly3874Val) c.11603G>T (p.Gly3868Val) c.11531G>T (p.Gly3844Val) n.13944G>T n.12933G>T | |
12 | g.49033090C= | CA2034946640 | KMT2D | c.11615G= (p.Gly3872=) c.11624G= (p.Gly3875=) c.1175G= (p.Gly392=) c.3194G= (p.Gly1065=) c.11612G= (p.Gly3871=) c.3094G= (n.3094G=) c.11621G= (p.Gly3874=) c.11603G= (p.Gly3868=) c.11531G= (p.Gly3844=) n.13944G= n.12933G= | |
12 | g.49033090C>G | CA384717168 | KMT2D | c.11615G>C (p.Gly3872Ala) c.11624G>C (p.Gly3875Ala) c.1175G>C (p.Gly392Ala) c.3194G>C (p.Gly1065Ala) c.11612G>C (p.Gly3871Ala) c.3094G>C (n.3094G>C) c.11621G>C (p.Gly3874Ala) c.11603G>C (p.Gly3868Ala) c.11531G>C (p.Gly3844Ala) n.13944G>C n.12933G>C | |
12 | g.49033090C>T | CA384717169 | KMT2D | c.11615G>A (p.Gly3872Glu) c.11624G>A (p.Gly3875Glu) c.1175G>A (p.Gly392Glu) c.3194G>A (p.Gly1065Glu) c.11612G>A (p.Gly3871Glu) c.3094G>A (n.3094G>A) c.11621G>A (p.Gly3874Glu) c.11603G>A (p.Gly3868Glu) c.11531G>A (p.Gly3844Glu) n.13944G>A n.12933G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033091C>A | CA384717172 | KMT2D | c.11614G>T (p.Gly3872Trp) c.11623G>T (p.Gly3875Trp) c.1174G>T (p.Gly392Trp) c.3193G>T (p.Gly1065Trp) c.11611G>T (p.Gly3871Trp) c.3093G>T (n.3093G>T) c.11620G>T (p.Gly3874Trp) c.11602G>T (p.Gly3868Trp) c.11530G>T (p.Gly3844Trp) n.13943G>T n.12932G>T | |
12 | g.49033091C>G | CA384717170 | KMT2D | c.11614G>C (p.Gly3872Arg) c.11623G>C (p.Gly3875Arg) c.1174G>C (p.Gly392Arg) c.3193G>C (p.Gly1065Arg) c.11611G>C (p.Gly3871Arg) c.3093G>C (n.3093G>C) c.11620G>C (p.Gly3874Arg) c.11602G>C (p.Gly3868Arg) c.11530G>C (p.Gly3844Arg) n.13943G>C n.12932G>C | |
12 | g.49033091C>T | CA384717171 | KMT2D | c.11614G>A (p.Gly3872Arg) c.11623G>A (p.Gly3875Arg) c.1174G>A (p.Gly392Arg) c.3193G>A (p.Gly1065Arg) c.11611G>A (p.Gly3871Arg) c.3093G>A (n.3093G>A) c.11620G>A (p.Gly3874Arg) c.11602G>A (p.Gly3868Arg) c.11530G>A (p.Gly3844Arg) n.13943G>A n.12932G>A | |
12 | g.49033092T>A | CA479709098 | KMT2D | c.11613A>T (p.Ala3871=) c.11622A>T (p.Ala3874=) c.1173A>T (p.Ala391=) c.3192A>T (p.Ala1064=) c.11610A>T (p.Ala3870=) c.3092A>T (n.3092A>T) c.11619A>T (p.Ala3873=) c.11601A>T (p.Ala3867=) c.11529A>T (p.Ala3843=) n.13942A>T n.12931A>T | |
12 | g.49033092T>C | CA479709100 | KMT2D | c.11613A>G (p.Ala3871=) c.11622A>G (p.Ala3874=) c.1173A>G (p.Ala391=) c.3192A>G (p.Ala1064=) c.11610A>G (p.Ala3870=) c.3092A>G (n.3092A>G) c.11619A>G (p.Ala3873=) c.11601A>G (p.Ala3867=) c.11529A>G (p.Ala3843=) n.13942A>G n.12931A>G | |
12 | g.49033092T>G | CA479709101 | KMT2D | c.11613A>C (p.Ala3871=) c.11622A>C (p.Ala3874=) c.1173A>C (p.Ala391=) c.3192A>C (p.Ala1064=) c.11610A>C (p.Ala3870=) c.3092A>C (n.3092A>C) c.11619A>C (p.Ala3873=) c.11601A>C (p.Ala3867=) c.11529A>C (p.Ala3843=) n.13942A>C n.12931A>C | |
12 | g.49033093G>A | CA384717173 | KMT2D | c.11612C>T (p.Ala3871Val) c.11621C>T (p.Ala3874Val) c.1172C>T (p.Ala391Val) c.3191C>T (p.Ala1064Val) c.11609C>T (p.Ala3870Val) c.3091C>T (n.3091C>T) c.11618C>T (p.Ala3873Val) c.11600C>T (p.Ala3867Val) c.11528C>T (p.Ala3843Val) n.13941C>T n.12930C>T | dbSNP gnomAD v2 |
12 | g.49033093G>C | CA384717174 | KMT2D | c.11612C>G (p.Ala3871Gly) c.11621C>G (p.Ala3874Gly) c.1172C>G (p.Ala391Gly) c.3191C>G (p.Ala1064Gly) c.11609C>G (p.Ala3870Gly) c.3091C>G (n.3091C>G) c.11618C>G (p.Ala3873Gly) c.11600C>G (p.Ala3867Gly) c.11528C>G (p.Ala3843Gly) n.13941C>G n.12930C>G | |
12 | g.49033093G= | CA2034946641 | KMT2D | c.11612C= (p.Ala3871=) c.11621C= (p.Ala3874=) c.1172C= (p.Ala391=) c.3191C= (p.Ala1064=) c.11609C= (p.Ala3870=) c.3091C= (n.3091C=) c.11618C= (p.Ala3873=) c.11600C= (p.Ala3867=) c.11528C= (p.Ala3843=) n.13941C= n.12930C= | |
12 | g.49033093G>T | CA384717175 | KMT2D | c.11612C>A (p.Ala3871Glu) c.11621C>A (p.Ala3874Glu) c.1172C>A (p.Ala391Glu) c.3191C>A (p.Ala1064Glu) c.11609C>A (p.Ala3870Glu) c.3091C>A (n.3091C>A) c.11618C>A (p.Ala3873Glu) c.11600C>A (p.Ala3867Glu) c.11528C>A (p.Ala3843Glu) n.13941C>A n.12930C>A | |
12 | g.49033094C>A | CA384717176 | KMT2D | c.11611G>T (p.Ala3871Ser) c.11620G>T (p.Ala3874Ser) c.1171G>T (p.Ala391Ser) c.3190G>T (p.Ala1064Ser) c.11608G>T (p.Ala3870Ser) c.3090G>T (n.3090G>T) c.11617G>T (p.Ala3873Ser) c.11599G>T (p.Ala3867Ser) c.11527G>T (p.Ala3843Ser) n.13940G>T n.12929G>T | |
12 | g.49033094C= | CA2034946642 | KMT2D | c.11611G= (p.Ala3871=) c.11620G= (p.Ala3874=) c.1171G= (p.Ala391=) c.3190G= (p.Ala1064=) c.11608G= (p.Ala3870=) c.3090G= (n.3090G=) c.11617G= (p.Ala3873=) c.11599G= (p.Ala3867=) c.11527G= (p.Ala3843=) n.13940G= n.12929G= | |
12 | g.49033094C>G | CA384717177 | KMT2D | c.11611G>C (p.Ala3871Pro) c.11620G>C (p.Ala3874Pro) c.1171G>C (p.Ala391Pro) c.3190G>C (p.Ala1064Pro) c.11608G>C (p.Ala3870Pro) c.3090G>C (n.3090G>C) c.11617G>C (p.Ala3873Pro) c.11599G>C (p.Ala3867Pro) c.11527G>C (p.Ala3843Pro) n.13940G>C n.12929G>C | |
12 | g.49033094C>T | CA384717178 | KMT2D | c.11611G>A (p.Ala3871Thr) c.11620G>A (p.Ala3874Thr) c.1171G>A (p.Ala391Thr) c.3190G>A (p.Ala1064Thr) c.11608G>A (p.Ala3870Thr) c.3090G>A (n.3090G>A) c.11617G>A (p.Ala3873Thr) c.11599G>A (p.Ala3867Thr) c.11527G>A (p.Ala3843Thr) n.13940G>A n.12929G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033094_49033095insA | CA645574516 | KMT2D | c.11610_11611insT (p.Ala3871CysfsTer?) c.11619_11620insT (p.Ala3874CysfsTer?) c.1170_1171insT (p.Ala391CysfsTer?) c.3189_3190insT (p.Ala1064CysfsTer?) c.11607_11608insT (p.Ala3870CysfsTer?) c.3089_3090insT (n.3089_3090insT) c.11616_11617insT (p.Ala3873CysfsTer?) c.11598_11599insT (p.Ala3867CysfsTer?) c.11526_11527insT (p.Ala3843CysfsTer?) n.13939_13940insT n.12928_12929insT | COSMIC COSMIC |
12 | g.49033095C>A | CA384717179 | KMT2D | c.11610G>T (p.Met3870Ile) c.11619G>T (p.Met3873Ile) c.1170G>T (p.Met390Ile) c.3189G>T (p.Met1063Ile) c.11607G>T (p.Met3869Ile) c.3089G>T (n.3089G>T) c.11616G>T (p.Met3872Ile) c.11598G>T (p.Met3866Ile) c.11526G>T (p.Met3842Ile) n.13939G>T n.12928G>T | dbSNP |
12 | g.49033095C= | CA2034946643 | KMT2D | c.11610G= (p.Met3870=) c.11619G= (p.Met3873=) c.1170G= (p.Met390=) c.3189G= (p.Met1063=) c.11607G= (p.Met3869=) c.3089G= (n.3089G=) c.11616G= (p.Met3872=) c.11598G= (p.Met3866=) c.11526G= (p.Met3842=) n.13939G= n.12928G= | |
12 | g.49033095C>G | CA384717180 | KMT2D | c.11610G>C (p.Met3870Ile) c.11619G>C (p.Met3873Ile) c.1170G>C (p.Met390Ile) c.3189G>C (p.Met1063Ile) c.11607G>C (p.Met3869Ile) c.3089G>C (n.3089G>C) c.11616G>C (p.Met3872Ile) c.11598G>C (p.Met3866Ile) c.11526G>C (p.Met3842Ile) n.13939G>C n.12928G>C | |
12 | g.49033095C>T | CA160605 | KMT2D | c.11610G>A (p.Met3870Ile) c.11619G>A (p.Met3873Ile) c.1170G>A (p.Met390Ile) c.3189G>A (p.Met1063Ile) c.11607G>A (p.Met3869Ile) c.3089G>A (n.3089G>A) c.11616G>A (p.Met3872Ile) c.11598G>A (p.Met3866Ile) c.11526G>A (p.Met3842Ile) n.13939G>A n.12928G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033096A>C | CA384717181 | KMT2D | c.11609T>G (p.Met3870Arg) c.11618T>G (p.Met3873Arg) c.1169T>G (p.Met390Arg) c.3188T>G (p.Met1063Arg) c.11606T>G (p.Met3869Arg) c.3088T>G (n.3088T>G) c.11615T>G (p.Met3872Arg) c.11597T>G (p.Met3866Arg) c.11525T>G (p.Met3842Arg) n.13938T>G n.12927T>G | dbSNP |
12 | g.49033096A>G | CA384717182 | KMT2D | c.11609T>C (p.Met3870Thr) c.11618T>C (p.Met3873Thr) c.1169T>C (p.Met390Thr) c.3188T>C (p.Met1063Thr) c.11606T>C (p.Met3869Thr) c.3088T>C (n.3088T>C) c.11615T>C (p.Met3872Thr) c.11597T>C (p.Met3866Thr) c.11525T>C (p.Met3842Thr) n.13938T>C n.12927T>C | |
12 | g.49033096A>T | CA384717183 | KMT2D | c.11609T>A (p.Met3870Lys) c.11618T>A (p.Met3873Lys) c.1169T>A (p.Met390Lys) c.3188T>A (p.Met1063Lys) c.11606T>A (p.Met3869Lys) c.3088T>A (n.3088T>A) c.11615T>A (p.Met3872Lys) c.11597T>A (p.Met3866Lys) c.11525T>A (p.Met3842Lys) n.13938T>A n.12927T>A | |
12 | g.49033097T>A | CA384717185 | KMT2D | c.11608A>T (p.Met3870Leu) c.11617A>T (p.Met3873Leu) c.1168A>T (p.Met390Leu) c.3187A>T (p.Met1063Leu) c.11605A>T (p.Met3869Leu) c.3087A>T (n.3087A>T) c.11614A>T (p.Met3872Leu) c.11596A>T (p.Met3866Leu) c.11524A>T (p.Met3842Leu) n.13937A>T n.12926A>T | |
12 | g.49033097T>C | CA384717186 | KMT2D | c.11608A>G (p.Met3870Val) c.11617A>G (p.Met3873Val) c.1168A>G (p.Met390Val) c.3187A>G (p.Met1063Val) c.11605A>G (p.Met3869Val) c.3087A>G (n.3087A>G) c.11614A>G (p.Met3872Val) c.11596A>G (p.Met3866Val) c.11524A>G (p.Met3842Val) n.13937A>G n.12926A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.49033097T>G | CA384717184 | KMT2D | c.11608A>C (p.Met3870Leu) c.11617A>C (p.Met3873Leu) c.1168A>C (p.Met390Leu) c.3187A>C (p.Met1063Leu) c.11605A>C (p.Met3869Leu) c.3087A>C (n.3087A>C) c.11614A>C (p.Met3872Leu) c.11596A>C (p.Met3866Leu) c.11524A>C (p.Met3842Leu) n.13937A>C n.12926A>C | |
12 | g.49033097T= | CA2034946644 | KMT2D | c.11608A= (p.Met3870=) c.11617A= (p.Met3873=) c.1168A= (p.Met390=) c.3187A= (p.Met1063=) c.11605A= (p.Met3869=) c.3087A= (n.3087A=) c.11614A= (p.Met3872=) c.11596A= (p.Met3866=) c.11524A= (p.Met3842=) n.13937A= n.12926A= | |
12 | g.49033098G>A | CA479709113 | KMT2D | c.11607C>T (p.Ser3869=) c.11616C>T (p.Ser3872=) c.1167C>T (p.Ser389=) c.3186C>T (p.Ser1062=) c.11604C>T (p.Ser3868=) c.3086C>T (n.3086C>T) c.11613C>T (p.Ser3871=) c.11595C>T (p.Ser3865=) c.11523C>T (p.Ser3841=) n.13936C>T n.12925C>T | |
12 | g.49033098G>C | CA479709114 | KMT2D | c.11607C>G (p.Ser3869=) c.11616C>G (p.Ser3872=) c.1167C>G (p.Ser389=) c.3186C>G (p.Ser1062=) c.11604C>G (p.Ser3868=) c.3086C>G (n.3086C>G) c.11613C>G (p.Ser3871=) c.11595C>G (p.Ser3865=) c.11523C>G (p.Ser3841=) n.13936C>G n.12925C>G | |
12 | g.49033098G>T | CA479709116 | KMT2D | c.11607C>A (p.Ser3869=) c.11616C>A (p.Ser3872=) c.1167C>A (p.Ser389=) c.3186C>A (p.Ser1062=) c.11604C>A (p.Ser3868=) c.3086C>A (n.3086C>A) c.11613C>A (p.Ser3871=) c.11595C>A (p.Ser3865=) c.11523C>A (p.Ser3841=) n.13936C>A n.12925C>A | |
12 | g.49033099dup | CA2580617367 | KMT2D | c.11607dup (p.Met3870HisfsTer?) c.11616dup (p.Met3873HisfsTer?) c.1167dup (p.Met390HisfsTer?) c.3186dup (p.Met1063HisfsTer?) c.11604dup (p.Met3869HisfsTer?) c.3086dup (n.3086dup) c.11613dup (p.Met3872HisfsTer?) c.11595dup (p.Met3866HisfsTer?) c.11523dup (p.Met3842HisfsTer?) n.13936dup n.12925dup | |
12 | g.49033099G>A | CA384717188 | KMT2D | c.11606C>T (p.Ser3869Phe) c.11615C>T (p.Ser3872Phe) c.1166C>T (p.Ser389Phe) c.3185C>T (p.Ser1062Phe) c.11603C>T (p.Ser3868Phe) c.3085C>T (n.3085C>T) c.11612C>T (p.Ser3871Phe) c.11594C>T (p.Ser3865Phe) c.11522C>T (p.Ser3841Phe) n.13935C>T n.12924C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033099G>C | CA384717187 | KMT2D | c.11606C>G (p.Ser3869Cys) c.11615C>G (p.Ser3872Cys) c.1166C>G (p.Ser389Cys) c.3185C>G (p.Ser1062Cys) c.11603C>G (p.Ser3868Cys) c.3085C>G (n.3085C>G) c.11612C>G (p.Ser3871Cys) c.11594C>G (p.Ser3865Cys) c.11522C>G (p.Ser3841Cys) n.13935C>G n.12924C>G | dbSNP |
12 | g.49033099G= | CA2034946645 | KMT2D | c.11606C= (p.Ser3869=) c.11615C= (p.Ser3872=) c.1166C= (p.Ser389=) c.3185C= (p.Ser1062=) c.11603C= (p.Ser3868=) c.3085C= (n.3085C=) c.11612C= (p.Ser3871=) c.11594C= (p.Ser3865=) c.11522C= (p.Ser3841=) n.13935C= n.12924C= | |
12 | g.49033099G>T | CA384717189 | KMT2D | c.11606C>A (p.Ser3869Tyr) c.11615C>A (p.Ser3872Tyr) c.1166C>A (p.Ser389Tyr) c.3185C>A (p.Ser1062Tyr) c.11603C>A (p.Ser3868Tyr) c.3085C>A (n.3085C>A) c.11612C>A (p.Ser3871Tyr) c.11594C>A (p.Ser3865Tyr) c.11522C>A (p.Ser3841Tyr) n.13935C>A n.12924C>A | |
12 | g.49033100A>C | CA384717190 | KMT2D | c.11605T>G (p.Ser3869Ala) c.11614T>G (p.Ser3872Ala) c.1165T>G (p.Ser389Ala) c.3184T>G (p.Ser1062Ala) c.11602T>G (p.Ser3868Ala) c.3084T>G (n.3084T>G) c.11611T>G (p.Ser3871Ala) c.11593T>G (p.Ser3865Ala) c.11521T>G (p.Ser3841Ala) n.13934T>G n.12923T>G | |
12 | g.49033100A>G | CA384717191 | KMT2D | c.11605T>C (p.Ser3869Pro) c.11614T>C (p.Ser3872Pro) c.1165T>C (p.Ser389Pro) c.3184T>C (p.Ser1062Pro) c.11602T>C (p.Ser3868Pro) c.3084T>C (n.3084T>C) c.11611T>C (p.Ser3871Pro) c.11593T>C (p.Ser3865Pro) c.11521T>C (p.Ser3841Pro) n.13934T>C n.12923T>C | |
12 | g.49033100A>T | CA384717192 | KMT2D | c.11605T>A (p.Ser3869Thr) c.11614T>A (p.Ser3872Thr) c.1165T>A (p.Ser389Thr) c.3184T>A (p.Ser1062Thr) c.11602T>A (p.Ser3868Thr) c.3084T>A (n.3084T>A) c.11611T>A (p.Ser3871Thr) c.11593T>A (p.Ser3865Thr) c.11521T>A (p.Ser3841Thr) n.13934T>A n.12923T>A | ClinVar dbSNP gnomAD v4 |
12 | g.49033101C>A | CA479709125 | KMT2D | c.11604G>T (p.Gly3868=) c.11613G>T (p.Gly3871=) c.1164G>T (p.Gly388=) c.3183G>T (p.Gly1061=) c.11601G>T (p.Gly3867=) c.3083G>T (n.3083G>T) c.11610G>T (p.Gly3870=) c.11592G>T (p.Gly3864=) c.11520G>T (p.Gly3840=) n.13933G>T n.12922G>T | dbSNP |
12 | g.49033101C= | CA2034946646 | KMT2D | c.11604G= (p.Gly3868=) c.11613G= (p.Gly3871=) c.1164G= (p.Gly388=) c.3183G= (p.Gly1061=) c.11601G= (p.Gly3867=) c.3083G= (n.3083G=) c.11610G= (p.Gly3870=) c.11592G= (p.Gly3864=) c.11520G= (p.Gly3840=) n.13933G= n.12922G= | |
12 | g.49033101C>G | CA479709126 | KMT2D | c.11604G>C (p.Gly3868=) c.11613G>C (p.Gly3871=) c.1164G>C (p.Gly388=) c.3183G>C (p.Gly1061=) c.11601G>C (p.Gly3867=) c.3083G>C (n.3083G>C) c.11610G>C (p.Gly3870=) c.11592G>C (p.Gly3864=) c.11520G>C (p.Gly3840=) n.13933G>C n.12922G>C | dbSNP |
12 | g.49033101C>T | CA479709127 | KMT2D | c.11604G>A (p.Gly3868=) c.11613G>A (p.Gly3871=) c.1164G>A (p.Gly388=) c.3183G>A (p.Gly1061=) c.11601G>A (p.Gly3867=) c.3083G>A (n.3083G>A) c.11610G>A (p.Gly3870=) c.11592G>A (p.Gly3864=) c.11520G>A (p.Gly3840=) n.13933G>A n.12922G>A | ClinVar dbSNP gnomAD v4 |
12 | g.49033102C>A | CA384717193 | KMT2D | c.11603G>T (p.Gly3868Val) c.11612G>T (p.Gly3871Val) c.1163G>T (p.Gly388Val) c.3182G>T (p.Gly1061Val) c.11600G>T (p.Gly3867Val) c.3082G>T (n.3082G>T) c.11609G>T (p.Gly3870Val) c.11591G>T (p.Gly3864Val) c.11519G>T (p.Gly3840Val) n.13932G>T n.12921G>T | dbSNP |
12 | g.49033102C= | CA2034946647 | KMT2D | c.11603G= (p.Gly3868=) c.11612G= (p.Gly3871=) c.1163G= (p.Gly388=) c.3182G= (p.Gly1061=) c.11600G= (p.Gly3867=) c.3082G= (n.3082G=) c.11609G= (p.Gly3870=) c.11591G= (p.Gly3864=) c.11519G= (p.Gly3840=) n.13932G= n.12921G= | |
12 | g.49033102C>G | CA384717194 | KMT2D | c.11603G>C (p.Gly3868Ala) c.11612G>C (p.Gly3871Ala) c.1163G>C (p.Gly388Ala) c.3182G>C (p.Gly1061Ala) c.11600G>C (p.Gly3867Ala) c.3082G>C (n.3082G>C) c.11609G>C (p.Gly3870Ala) c.11591G>C (p.Gly3864Ala) c.11519G>C (p.Gly3840Ala) n.13932G>C n.12921G>C | dbSNP gnomAD v4 |
12 | g.49033102C>T | CA384717195 | KMT2D | c.11603G>A (p.Gly3868Glu) c.11612G>A (p.Gly3871Glu) c.1163G>A (p.Gly388Glu) c.3182G>A (p.Gly1061Glu) c.11600G>A (p.Gly3867Glu) c.3082G>A (n.3082G>A) c.11609G>A (p.Gly3870Glu) c.11591G>A (p.Gly3864Glu) c.11519G>A (p.Gly3840Glu) n.13932G>A n.12921G>A | |
12 | g.49033102_49033111delinsCCTTGCTGTT | CA2034946648 | KMT2D | c.11594_11603delinsAACAGCAAGG (p.Gln3865=) c.11603_11612delinsAACAGCAAGG (p.Gln3868=) c.1154_1163delinsAACAGCAAGG (p.Gln385=) c.3173_3182delinsAACAGCAAGG (p.Gln1058=) c.11591_11600delinsAACAGCAAGG (p.Gln3864=) c.3073_3082delinsAACAGCAAGG (n.3073_3082delinsAACAGCAAGG) c.11600_11609delinsAACAGCAAGG (p.Gln3867=) c.11582_11591delinsAACAGCAAGG (p.Gln3861=) c.11510_11519delinsAACAGCAAGG (p.Gln3837=) n.13923_13932delinsAACAGCAAGG n.12912_12921delinsAACAGCAAGG | |
12 | g.49033103C>A | CA384717213 | KMT2D | c.11602G>T (p.Gly3868Trp) c.11611G>T (p.Gly3871Trp) c.1162G>T (p.Gly388Trp) c.3181G>T (p.Gly1061Trp) c.11599G>T (p.Gly3867Trp) c.3081G>T (n.3081G>T) c.11608G>T (p.Gly3870Trp) c.11590G>T (p.Gly3864Trp) c.11518G>T (p.Gly3840Trp) n.13931G>T n.12920G>T | gnomAD v4 |
12 | g.49033103C>G | CA384717197 | KMT2D | c.11602G>C (p.Gly3868Arg) c.11611G>C (p.Gly3871Arg) c.1162G>C (p.Gly388Arg) c.3181G>C (p.Gly1061Arg) c.11599G>C (p.Gly3867Arg) c.3081G>C (n.3081G>C) c.11608G>C (p.Gly3870Arg) c.11590G>C (p.Gly3864Arg) c.11518G>C (p.Gly3840Arg) n.13931G>C n.12920G>C | gnomAD v4 |
12 | g.49033103C>T | CA384717209 | KMT2D | c.11602G>A (p.Gly3868Arg) c.11611G>A (p.Gly3871Arg) c.1162G>A (p.Gly388Arg) c.3181G>A (p.Gly1061Arg) c.11599G>A (p.Gly3867Arg) c.3081G>A (n.3081G>A) c.11608G>A (p.Gly3870Arg) c.11590G>A (p.Gly3864Arg) c.11518G>A (p.Gly3840Arg) n.13931G>A n.12920G>A | |
12 | g.49033103_49033111delinsG | CA1139662675 | KMT2D | c.11594_11602delinsC (p.Gln3865ProfsTer?) c.11603_11611delinsC (p.Gln3868ProfsTer?) c.1154_1162delinsC (p.Gln385ProfsTer?) c.3173_3181delinsC (p.Gln1058ProfsTer?) c.11591_11599delinsC (p.Gln3864ProfsTer?) c.3073_3081delinsC (n.3073_3081delinsC) c.11600_11608delinsC (p.Gln3867ProfsTer?) c.11582_11590delinsC (p.Gln3861ProfsTer?) c.11510_11518delinsC (p.Gln3837ProfsTer?) n.13923_13931delinsC n.12912_12920delinsC | ClinVar dbSNP |
12 | g.49033103_49033121delinsCTTGCTGTTGGTGCTGTTG | CA2034946649 | KMT2D | c.11584_11602delinsCAACAGCACCAACAGCAAG (p.Gln3862=) c.11593_11611delinsCAACAGCACCAACAGCAAG (p.Gln3865=) c.1144_1162delinsCAACAGCACCAACAGCAAG (p.Gln382=) c.3163_3181delinsCAACAGCACCAACAGCAAG (p.Gln1055=) c.11581_11599delinsCAACAGCACCAACAGCAAG (p.Gln3861=) c.3063_3081delinsCAACAGCACCAACAGCAAG (n.3063_3081delinsCAACAGCACCAACAGCAAG) c.11590_11608delinsCAACAGCACCAACAGCAAG (p.Gln3864=) c.11572_11590delinsCAACAGCACCAACAGCAAG (p.Gln3858=) c.11500_11518delinsCAACAGCACCAACAGCAAG (p.Gln3834=) n.13913_13931delinsCAACAGCACCAACAGCAAG n.12902_12920delinsCAACAGCACCAACAGCAAG | |
12 | g.49033104T>A | CA384717218 | KMT2D | c.11601A>T (p.Gln3867His) c.11610A>T (p.Gln3870His) c.1161A>T (p.Gln387His) c.3180A>T (p.Gln1060His) c.11598A>T (p.Gln3866His) c.3080A>T (n.3080A>T) c.11607A>T (p.Gln3869His) c.11589A>T (p.Gln3863His) c.11517A>T (p.Gln3839His) n.13930A>T n.12919A>T | |
12 | g.49033104T>C | CA479709133 | KMT2D | c.11601A>G (p.Gln3867=) c.11610A>G (p.Gln3870=) c.1161A>G (p.Gln387=) c.3180A>G (p.Gln1060=) c.11598A>G (p.Gln3866=) c.3080A>G (n.3080A>G) c.11607A>G (p.Gln3869=) c.11589A>G (p.Gln3863=) c.11517A>G (p.Gln3839=) n.13930A>G n.12919A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49033104T>G | CA384717221 | KMT2D | c.11601A>C (p.Gln3867His) c.11610A>C (p.Gln3870His) c.1161A>C (p.Gln387His) c.3180A>C (p.Gln1060His) c.11598A>C (p.Gln3866His) c.3080A>C (n.3080A>C) c.11607A>C (p.Gln3869His) c.11589A>C (p.Gln3863His) c.11517A>C (p.Gln3839His) n.13930A>C n.12919A>C | |
12 | g.49033104T= | CA2034946650 | KMT2D | c.11601A= (p.Gln3867=) c.11610A= (p.Gln3870=) c.1161A= (p.Gln387=) c.3180A= (p.Gln1060=) c.11598A= (p.Gln3866=) c.3080A= (n.3080A=) c.11607A= (p.Gln3869=) c.11589A= (p.Gln3863=) c.11517A= (p.Gln3839=) n.13930A= n.12919A= | |
12 | g.49033110_49033127del | CA479709135 | KMT2D | c.11584_11601del (p.Gln3862_Gln3867del) c.11593_11610del (p.Gln3865_Gln3870del) c.1144_1161del (p.Gln382_Gln387del) c.3163_3180del (p.Gln1055_Gln1060del) c.11581_11598del (p.Gln3861_Gln3866del) c.3063_3080del (n.3063_3080del) c.11590_11607del (p.Gln3864_Gln3869del) c.11572_11589del (p.Gln3858_Gln3863del) c.11500_11517del (p.Gln3834_Gln3839del) n.13913_13930del n.12902_12919del | dbSNP gnomAD v4 |
12 | g.49033105T>A | CA384717226 | KMT2D | c.11600A>T (p.Gln3867Leu) c.11609A>T (p.Gln3870Leu) c.1160A>T (p.Gln387Leu) c.3179A>T (p.Gln1060Leu) c.11597A>T (p.Gln3866Leu) c.3079A>T (n.3079A>T) c.11606A>T (p.Gln3869Leu) c.11588A>T (p.Gln3863Leu) c.11516A>T (p.Gln3839Leu) n.13929A>T n.12918A>T | |
12 | g.49033105T>C | CA384717231 | KMT2D | c.11600A>G (p.Gln3867Arg) c.11609A>G (p.Gln3870Arg) c.1160A>G (p.Gln387Arg) c.3179A>G (p.Gln1060Arg) c.11597A>G (p.Gln3866Arg) c.3079A>G (n.3079A>G) c.11606A>G (p.Gln3869Arg) c.11588A>G (p.Gln3863Arg) c.11516A>G (p.Gln3839Arg) n.13929A>G n.12918A>G | |
12 | g.49033105T>G | CA384717233 | KMT2D | c.11600A>C (p.Gln3867Pro) c.11609A>C (p.Gln3870Pro) c.1160A>C (p.Gln387Pro) c.3179A>C (p.Gln1060Pro) c.11597A>C (p.Gln3866Pro) c.3079A>C (n.3079A>C) c.11606A>C (p.Gln3869Pro) c.11588A>C (p.Gln3863Pro) c.11516A>C (p.Gln3839Pro) n.13929A>C n.12918A>C | |
12 | g.49033113_49033121dup | CA2618606347 | KMT2D | c.11592_11600dup (p.Gln3866_Gln3867insHisGlnGln) c.11601_11609dup (p.Gln3869_Gln3870insHisGlnGln) c.1152_1160dup (p.Gln386_Gln387insHisGlnGln) c.3171_3179dup (p.Gln1059_Gln1060insHisGlnGln) c.11589_11597dup (p.Gln3865_Gln3866insHisGlnGln) c.3071_3079dup (n.3071_3079dup) c.11598_11606dup (p.Gln3868_Gln3869insHisGlnGln) c.11580_11588dup (p.Gln3862_Gln3863insHisGlnGln) c.11508_11516dup (p.Gln3838_Gln3839insHisGlnGln) n.13921_13929dup n.12910_12918dup | gnomAD v4 |
12 | g.49033113_49033121del | CA2618606348 | KMT2D | c.11592_11600del (p.His3864_Gln3866del) c.11601_11609del (p.His3867_Gln3869del) c.1152_1160del (p.His384_Gln386del) c.3171_3179del (p.His1057_Gln1059del) c.11589_11597del (p.His3863_Gln3865del) c.3071_3079del (n.3071_3079del) c.11598_11606del (p.His3866_Gln3868del) c.11580_11588del (p.His3860_Gln3862del) c.11508_11516del (p.His3836_Gln3838del) n.13921_13929del n.12910_12918del | dbSNP gnomAD v4 |
12 | g.49033111_49033182del | CA2618606350 | KMT2D | c.11529_11600del (p.Gly3844_Gln3867del) c.11538_11609del (p.Gly3847_Gln3870del) c.1089_1160del (p.Gly364_Gln387del) c.3108_3179del (p.Gly1037_Gln1060del) c.11526_11597del (p.Gly3843_Gln3866del) c.3008_3079del (n.3008_3079del) c.11535_11606del (p.Gly3846_Gln3869del) c.11517_11588del (p.Gly3840_Gln3863del) c.11445_11516del (p.Gly3816_Gln3839del) n.13858_13929del n.12847_12918del | gnomAD v4 |
12 | g.49033106G>A | CA384717235 | KMT2D | c.11599C>T (p.Gln3867Ter) c.11608C>T (p.Gln3870Ter) c.1159C>T (p.Gln387Ter) c.3178C>T (p.Gln1060Ter) c.11596C>T (p.Gln3866Ter) c.3078C>T (n.3078C>T) c.11605C>T (p.Gln3869Ter) c.11587C>T (p.Gln3863Ter) c.11515C>T (p.Gln3839Ter) n.13928C>T n.12917C>T | |
12 | g.49033106G>C | CA384717243 | KMT2D | c.11599C>G (p.Gln3867Glu) c.11608C>G (p.Gln3870Glu) c.1159C>G (p.Gln387Glu) c.3178C>G (p.Gln1060Glu) c.11596C>G (p.Gln3866Glu) c.3078C>G (n.3078C>G) c.11605C>G (p.Gln3869Glu) c.11587C>G (p.Gln3863Glu) c.11515C>G (p.Gln3839Glu) n.13928C>G n.12917C>G | |
12 | g.49033106G= | CA2034946651 | KMT2D | c.11599C= (p.Gln3867=) c.11608C= (p.Gln3870=) c.1159C= (p.Gln387=) c.3178C= (p.Gln1060=) c.11596C= (p.Gln3866=) c.3078C= (n.3078C=) c.11605C= (p.Gln3869=) c.11587C= (p.Gln3863=) c.11515C= (p.Gln3839=) n.13928C= n.12917C= | |
12 | g.49033106G>T | CA384717237 | KMT2D | c.11599C>A (p.Gln3867Lys) c.11608C>A (p.Gln3870Lys) c.1159C>A (p.Gln387Lys) c.3178C>A (p.Gln1060Lys) c.11596C>A (p.Gln3866Lys) c.3078C>A (n.3078C>A) c.11605C>A (p.Gln3869Lys) c.11587C>A (p.Gln3863Lys) c.11515C>A (p.Gln3839Lys) n.13928C>A n.12917C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033107C>A | CA384717245 | KMT2D | c.11598G>T (p.Gln3866His) c.11607G>T (p.Gln3869His) c.1158G>T (p.Gln386His) c.3177G>T (p.Gln1059His) c.11595G>T (p.Gln3865His) c.3077G>T (n.3077G>T) c.11604G>T (p.Gln3868His) c.11586G>T (p.Gln3862His) c.11514G>T (p.Gln3838His) n.13927G>T n.12916G>T | dbSNP gnomAD v2 |
12 | g.49033107C= | CA2034946652 | KMT2D | c.11598G= (p.Gln3866=) c.11607G= (p.Gln3869=) c.1158G= (p.Gln386=) c.3177G= (p.Gln1059=) c.11595G= (p.Gln3865=) c.3077G= (n.3077G=) c.11604G= (p.Gln3868=) c.11586G= (p.Gln3862=) c.11514G= (p.Gln3838=) n.13927G= n.12916G= | |
12 | g.49033107C>G | CA384717252 | KMT2D | c.11598G>C (p.Gln3866His) c.11607G>C (p.Gln3869His) c.1158G>C (p.Gln386His) c.3177G>C (p.Gln1059His) c.11595G>C (p.Gln3865His) c.3077G>C (n.3077G>C) c.11604G>C (p.Gln3868His) c.11586G>C (p.Gln3862His) c.11514G>C (p.Gln3838His) n.13927G>C n.12916G>C | |
12 | g.49033107C>T | CA479709137 | KMT2D | c.11598G>A (p.Gln3866=) c.11607G>A (p.Gln3869=) c.1158G>A (p.Gln386=) c.3177G>A (p.Gln1059=) c.11595G>A (p.Gln3865=) c.3077G>A (n.3077G>A) c.11604G>A (p.Gln3868=) c.11586G>A (p.Gln3862=) c.11514G>A (p.Gln3838=) n.13927G>A n.12916G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49033108T>A | CA384717256 | KMT2D | c.11597A>T (p.Gln3866Leu) c.11606A>T (p.Gln3869Leu) c.1157A>T (p.Gln386Leu) c.3176A>T (p.Gln1059Leu) c.11594A>T (p.Gln3865Leu) c.3076A>T (n.3076A>T) c.11603A>T (p.Gln3868Leu) c.11585A>T (p.Gln3862Leu) c.11513A>T (p.Gln3838Leu) n.13926A>T n.12915A>T | |
12 | g.49033108T>C | CA384717262 | KMT2D | c.11597A>G (p.Gln3866Arg) c.11606A>G (p.Gln3869Arg) c.1157A>G (p.Gln386Arg) c.3176A>G (p.Gln1059Arg) c.11594A>G (p.Gln3865Arg) c.3076A>G (n.3076A>G) c.11603A>G (p.Gln3868Arg) c.11585A>G (p.Gln3862Arg) c.11513A>G (p.Gln3838Arg) n.13926A>G n.12915A>G | |
12 | g.49033108T>G | CA384717265 | KMT2D | c.11597A>C (p.Gln3866Pro) c.11606A>C (p.Gln3869Pro) c.1157A>C (p.Gln386Pro) c.3176A>C (p.Gln1059Pro) c.11594A>C (p.Gln3865Pro) c.3076A>C (n.3076A>C) c.11603A>C (p.Gln3868Pro) c.11585A>C (p.Gln3862Pro) c.11513A>C (p.Gln3838Pro) n.13926A>C n.12915A>C | |
12 | g.49033108dup | CA1139662676 | KMT2D | c.11597dup (p.Gln3867AlafsTer?) c.11606dup (p.Gln3870AlafsTer?) c.1157dup (p.Gln387AlafsTer?) c.3176dup (p.Gln1060AlafsTer?) c.11594dup (p.Gln3866AlafsTer?) c.3076dup (n.3076dup) c.11603dup (p.Gln3869AlafsTer?) c.11585dup (p.Gln3863AlafsTer?) c.11513dup (p.Gln3839AlafsTer?) n.13926dup n.12915dup | ClinVar dbSNP |
12 | g.49033113_49033124dup | CA2034946653 | KMT2D | c.11586_11597dup (p.Gln3866_Gln3867insGlnHisGlnGln) c.11595_11606dup (p.Gln3869_Gln3870insGlnHisGlnGln) c.1146_1157dup (p.Gln386_Gln387insGlnHisGlnGln) c.3165_3176dup (p.Gln1059_Gln1060insGlnHisGlnGln) c.11583_11594dup (p.Gln3865_Gln3866insGlnHisGlnGln) c.3065_3076dup (n.3065_3076dup) c.11592_11603dup (p.Gln3868_Gln3869insGlnHisGlnGln) c.11574_11585dup (p.Gln3862_Gln3863insGlnHisGlnGln) c.11502_11513dup (p.Gln3838_Gln3839insGlnHisGlnGln) n.13915_13926dup n.12904_12915dup | dbSNP gnomAD v4 |
12 | g.49033109G>A | CA384717272 | KMT2D | c.11596C>T (p.Gln3866Ter) c.11605C>T (p.Gln3869Ter) c.1156C>T (p.Gln386Ter) c.3175C>T (p.Gln1059Ter) c.11593C>T (p.Gln3865Ter) c.3075C>T (n.3075C>T) c.11602C>T (p.Gln3868Ter) c.11584C>T (p.Gln3862Ter) c.11512C>T (p.Gln3838Ter) n.13925C>T n.12914C>T | gnomAD v4 |
12 | g.49033109G>C | CA384717275 | KMT2D | c.11596C>G (p.Gln3866Glu) c.11605C>G (p.Gln3869Glu) c.1156C>G (p.Gln386Glu) c.3175C>G (p.Gln1059Glu) c.11593C>G (p.Gln3865Glu) c.3075C>G (n.3075C>G) c.11602C>G (p.Gln3868Glu) c.11584C>G (p.Gln3862Glu) c.11512C>G (p.Gln3838Glu) n.13925C>G n.12914C>G | |
12 | g.49033109G>T | CA384717277 | KMT2D | c.11596C>A (p.Gln3866Lys) c.11605C>A (p.Gln3869Lys) c.1156C>A (p.Gln386Lys) c.3175C>A (p.Gln1059Lys) c.11593C>A (p.Gln3865Lys) c.3075C>A (n.3075C>A) c.11602C>A (p.Gln3868Lys) c.11584C>A (p.Gln3862Lys) c.11512C>A (p.Gln3838Lys) n.13925C>A n.12914C>A | gnomAD v4 |
12 | g.49033110T>A | CA384717278 | KMT2D | c.11595A>T (p.Gln3865His) c.11604A>T (p.Gln3868His) c.1155A>T (p.Gln385His) c.3174A>T (p.Gln1058His) c.11592A>T (p.Gln3864His) c.3074A>T (n.3074A>T) c.11601A>T (p.Gln3867His) c.11583A>T (p.Gln3861His) c.11511A>T (p.Gln3837His) n.13924A>T n.12913A>T | |
12 | g.49033110T>C | CA479709143 | KMT2D | c.11595A>G (p.Gln3865=) c.11604A>G (p.Gln3868=) c.1155A>G (p.Gln385=) c.3174A>G (p.Gln1058=) c.11592A>G (p.Gln3864=) c.3074A>G (n.3074A>G) c.11601A>G (p.Gln3867=) c.11583A>G (p.Gln3861=) c.11511A>G (p.Gln3837=) n.13924A>G n.12913A>G | gnomAD v4 |
12 | g.49033110T>G | CA384717279 | KMT2D | c.11595A>C (p.Gln3865His) c.11604A>C (p.Gln3868His) c.1155A>C (p.Gln385His) c.3174A>C (p.Gln1058His) c.11592A>C (p.Gln3864His) c.3074A>C (n.3074A>C) c.11601A>C (p.Gln3867His) c.11583A>C (p.Gln3861His) c.11511A>C (p.Gln3837His) n.13924A>C n.12913A>C | dbSNP |
12 | g.49033111T>A | CA384717291 | KMT2D | c.11594A>T (p.Gln3865Leu) c.11603A>T (p.Gln3868Leu) c.1154A>T (p.Gln385Leu) c.3173A>T (p.Gln1058Leu) c.11591A>T (p.Gln3864Leu) c.3073A>T (n.3073A>T) c.11600A>T (p.Gln3867Leu) c.11582A>T (p.Gln3861Leu) c.11510A>T (p.Gln3837Leu) n.13923A>T n.12912A>T | |
12 | g.49033111T>C | CA384717286 | KMT2D | c.11594A>G (p.Gln3865Arg) c.11603A>G (p.Gln3868Arg) c.1154A>G (p.Gln385Arg) c.3173A>G (p.Gln1058Arg) c.11591A>G (p.Gln3864Arg) c.3073A>G (n.3073A>G) c.11600A>G (p.Gln3867Arg) c.11582A>G (p.Gln3861Arg) c.11510A>G (p.Gln3837Arg) n.13923A>G n.12912A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033111T>G | CA384717283 | KMT2D | c.11594A>C (p.Gln3865Pro) c.11603A>C (p.Gln3868Pro) c.1154A>C (p.Gln385Pro) c.3173A>C (p.Gln1058Pro) c.11591A>C (p.Gln3864Pro) c.3073A>C (n.3073A>C) c.11600A>C (p.Gln3867Pro) c.11582A>C (p.Gln3861Pro) c.11510A>C (p.Gln3837Pro) n.13923A>C n.12912A>C | |
12 | g.49033111T= | CA2034946654 | KMT2D | c.11594A= (p.Gln3865=) c.11603A= (p.Gln3868=) c.1154A= (p.Gln385=) c.3173A= (p.Gln1058=) c.11591A= (p.Gln3864=) c.3073A= (n.3073A=) c.11600A= (p.Gln3867=) c.11582A= (p.Gln3861=) c.11510A= (p.Gln3837=) n.13923A= n.12912A= | |
12 | g.49033112G>A | CA384717295 | KMT2D | c.11593C>T (p.Gln3865Ter) c.11602C>T (p.Gln3868Ter) c.1153C>T (p.Gln385Ter) c.3172C>T (p.Gln1058Ter) c.11590C>T (p.Gln3864Ter) c.3072C>T (n.3072C>T) c.11599C>T (p.Gln3867Ter) c.11581C>T (p.Gln3861Ter) c.11509C>T (p.Gln3837Ter) n.13922C>T n.12911C>T | |
12 | g.49033112G>C | CA384717297 | KMT2D | c.11593C>G (p.Gln3865Glu) c.11602C>G (p.Gln3868Glu) c.1153C>G (p.Gln385Glu) c.3172C>G (p.Gln1058Glu) c.11590C>G (p.Gln3864Glu) c.3072C>G (n.3072C>G) c.11599C>G (p.Gln3867Glu) c.11581C>G (p.Gln3861Glu) c.11509C>G (p.Gln3837Glu) n.13922C>G n.12911C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49033112G= | CA2034946655 | KMT2D | c.11593C= (p.Gln3865=) c.11602C= (p.Gln3868=) c.1153C= (p.Gln385=) c.3172C= (p.Gln1058=) c.11590C= (p.Gln3864=) c.3072C= (n.3072C=) c.11599C= (p.Gln3867=) c.11581C= (p.Gln3861=) c.11509C= (p.Gln3837=) n.13922C= n.12911C= | |
12 | g.49033112G>T | CA384717304 | KMT2D | c.11593C>A (p.Gln3865Lys) c.11602C>A (p.Gln3868Lys) c.1153C>A (p.Gln385Lys) c.3172C>A (p.Gln1058Lys) c.11590C>A (p.Gln3864Lys) c.3072C>A (n.3072C>A) c.11599C>A (p.Gln3867Lys) c.11581C>A (p.Gln3861Lys) c.11509C>A (p.Gln3837Lys) n.13922C>A n.12911C>A | dbSNP |
12 | g.49033113G>A | CA479709150 | KMT2D | c.11592C>T (p.His3864=) c.11601C>T (p.His3867=) c.1152C>T (p.His384=) c.3171C>T (p.His1057=) c.11589C>T (p.His3863=) c.3071C>T (n.3071C>T) c.11598C>T (p.His3866=) c.11580C>T (p.His3860=) c.11508C>T (p.His3836=) n.13921C>T n.12910C>T | gnomAD v4 |
12 | g.49033113G>C | CA384717307 | KMT2D | c.11592C>G (p.His3864Gln) c.11601C>G (p.His3867Gln) c.1152C>G (p.His384Gln) c.3171C>G (p.His1057Gln) c.11589C>G (p.His3863Gln) c.3071C>G (n.3071C>G) c.11598C>G (p.His3866Gln) c.11580C>G (p.His3860Gln) c.11508C>G (p.His3836Gln) n.13921C>G n.12910C>G | dbSNP |
12 | g.49033113G= | CA2034946656 | KMT2D | c.11592C= (p.His3864=) c.11601C= (p.His3867=) c.1152C= (p.His384=) c.3171C= (p.His1057=) c.11589C= (p.His3863=) c.3071C= (n.3071C=) c.11598C= (p.His3866=) c.11580C= (p.His3860=) c.11508C= (p.His3836=) n.13921C= n.12910C= | |
12 | g.49033113G>T | CA384717314 | KMT2D | c.11592C>A (p.His3864Gln) c.11601C>A (p.His3867Gln) c.1152C>A (p.His384Gln) c.3171C>A (p.His1057Gln) c.11589C>A (p.His3863Gln) c.3071C>A (n.3071C>A) c.11598C>A (p.His3866Gln) c.11580C>A (p.His3860Gln) c.11508C>A (p.His3836Gln) n.13921C>A n.12910C>A | gnomAD v4 |
12 | g.49033114T>A | CA384717318 | KMT2D | c.11591A>T (p.His3864Leu) c.11600A>T (p.His3867Leu) c.1151A>T (p.His384Leu) c.3170A>T (p.His1057Leu) c.11588A>T (p.His3863Leu) c.3070A>T (n.3070A>T) c.11597A>T (p.His3866Leu) c.11579A>T (p.His3860Leu) c.11507A>T (p.His3836Leu) n.13920A>T n.12909A>T | |
12 | g.49033114T>C | CA384717321 | KMT2D | c.11591A>G (p.His3864Arg) c.11600A>G (p.His3867Arg) c.1151A>G (p.His384Arg) c.3170A>G (p.His1057Arg) c.11588A>G (p.His3863Arg) c.3070A>G (n.3070A>G) c.11597A>G (p.His3866Arg) c.11579A>G (p.His3860Arg) c.11507A>G (p.His3836Arg) n.13920A>G n.12909A>G | gnomAD v4 |
12 | g.49033114T>G | CA384717323 | KMT2D | c.11591A>C (p.His3864Pro) c.11600A>C (p.His3867Pro) c.1151A>C (p.His384Pro) c.3170A>C (p.His1057Pro) c.11588A>C (p.His3863Pro) c.3070A>C (n.3070A>C) c.11597A>C (p.His3866Pro) c.11579A>C (p.His3860Pro) c.11507A>C (p.His3836Pro) n.13920A>C n.12909A>C | |
12 | g.49033116_49033118dup | CA2618606487 | KMT2D | c.11589_11591dup (p.Gln3863_His3864insGln) c.11598_11600dup (p.Gln3866_His3867insGln) c.1149_1151dup (p.Gln383_His384insGln) c.3168_3170dup (p.Gln1056_His1057insGln) c.11586_11588dup (p.Gln3862_His3863insGln) c.3068_3070dup (n.3068_3070dup) c.11595_11597dup (p.Gln3865_His3866insGln) c.11577_11579dup (p.Gln3859_His3860insGln) c.11505_11507dup (p.Gln3835_His3836insGln) n.13918_13920dup n.12907_12909dup | gnomAD v4 |
12 | g.49033119_49033127dup | CA2034946657 | KMT2D | c.11583_11591dup (p.Gln3863_His3864insGlnGlnGln) c.11592_11600dup (p.Gln3866_His3867insGlnGlnGln) c.1143_1151dup (p.Gln383_His384insGlnGlnGln) c.3162_3170dup (p.Gln1056_His1057insGlnGlnGln) c.11580_11588dup (p.Gln3862_His3863insGlnGlnGln) c.3062_3070dup (n.3062_3070dup) c.11589_11597dup (p.Gln3865_His3866insGlnGlnGln) c.11571_11579dup (p.Gln3859_His3860insGlnGlnGln) c.11499_11507dup (p.Gln3835_His3836insGlnGlnGln) n.13912_13920dup n.12901_12909dup | ClinVar dbSNP |