UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49032966_49033013del | CA2795901099 | KMT2D | c.11699_11746del (p.Leu3900_Gln3915del) c.11708_11755del (p.Leu3903_Gln3918del) c.1259_1306del (p.Leu420_Gln435del) c.3278_3325del (p.Leu1093_Gln1108del) c.11696_11743del (p.Leu3899_Gln3914del) c.3178_3225del (n.3178_3225del) c.11705_11752del (p.Leu3902_Gln3917del) c.11687_11734del (p.Leu3896_Gln3911del) c.11615_11662del (p.Leu3872_Gln3887del) n.14028_14075del n.13017_13064del | |
| 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.49032996_49033013dup | CA2618606057 | KMT2D | c.11700_11717dup (p.Leu3906_Gln3907insGlnGlnGlnGlnGlnLeu) c.11709_11726dup (p.Leu3909_Gln3910insGlnGlnGlnGlnGlnLeu) c.1260_1277dup (p.Leu426_Gln427insGlnGlnGlnGlnGlnLeu) c.3279_3296dup (p.Leu1099_Gln1100insGlnGlnGlnGlnGlnLeu) c.11697_11714dup (p.Leu3905_Gln3906insGlnGlnGlnGlnGlnLeu) c.3179_3196dup (n.3179_3196dup) c.11706_11723dup (p.Leu3908_Gln3909insGlnGlnGlnGlnGlnLeu) c.11688_11705dup (p.Leu3902_Gln3903insGlnGlnGlnGlnGlnLeu) c.11616_11633dup (p.Leu3878_Gln3879insGlnGlnGlnGlnGlnLeu) n.14029_14046dup n.13018_13035dup | gnomAD v4 |
| 12 | g.49032996_49033013del | CA2573148659 | KMT2D | c.11700_11717del (p.Gln3901_Leu3906del) c.11709_11726del (p.Gln3904_Leu3909del) c.1260_1277del (p.Gln421_Leu426del) c.3279_3296del (p.Gln1094_Leu1099del) c.11697_11714del (p.Gln3900_Leu3905del) c.3179_3196del (n.3179_3196del) c.11706_11723del (p.Gln3903_Leu3908del) c.11688_11705del (p.Gln3897_Leu3902del) c.11616_11633del (p.Gln3873_Leu3878del) n.14029_14046del n.13018_13035del | ClinVar dbSNP gnomAD v4 |
| 12 | g.49033013G>A | CA221995 | KMT2D | c.11692C>T (p.Gln3898Ter) c.11701C>T (p.Gln3901Ter) c.1252C>T (p.Gln418Ter) c.3271C>T (p.Gln1091Ter) c.11689C>T (p.Gln3897Ter) c.3171C>T (n.3171C>T) c.11698C>T (p.Gln3900Ter) c.11680C>T (p.Gln3894Ter) c.11608C>T (p.Gln3870Ter) n.14021C>T n.13010C>T | ClinVar dbSNP |
| 12 | g.49033013G>C | CA384716550 | KMT2D | c.11692C>G (p.Gln3898Glu) c.11701C>G (p.Gln3901Glu) c.1252C>G (p.Gln418Glu) c.3271C>G (p.Gln1091Glu) c.11689C>G (p.Gln3897Glu) c.3171C>G (n.3171C>G) c.11698C>G (p.Gln3900Glu) c.11680C>G (p.Gln3894Glu) c.11608C>G (p.Gln3870Glu) n.14021C>G n.13010C>G | |
| 12 | g.49033013G= | CA2034946610 | KMT2D | c.11692C= (p.Gln3898=) c.11701C= (p.Gln3901=) c.1252C= (p.Gln418=) c.3271C= (p.Gln1091=) c.11689C= (p.Gln3897=) c.3171C= (n.3171C=) c.11698C= (p.Gln3900=) c.11680C= (p.Gln3894=) c.11608C= (p.Gln3870=) n.14021C= n.13010C= | |
| 12 | g.49033013G>T | CA384716552 | KMT2D | c.11692C>A (p.Gln3898Lys) c.11701C>A (p.Gln3901Lys) c.1252C>A (p.Gln418Lys) c.3271C>A (p.Gln1091Lys) c.11689C>A (p.Gln3897Lys) c.3171C>A (n.3171C>A) c.11698C>A (p.Gln3900Lys) c.11680C>A (p.Gln3894Lys) c.11608C>A (p.Gln3870Lys) n.14021C>A n.13010C>A | gnomAD v4 |
| 12 | g.49033013_49033014insA | CA645574513 | KMT2D | c.11691_11692insT (p.Gln3898SerfsTer?) c.11700_11701insT (p.Gln3901SerfsTer?) c.1251_1252insT (p.Gln418SerfsTer?) c.3270_3271insT (p.Gln1091SerfsTer?) c.11688_11689insT (p.Gln3897SerfsTer?) c.3170_3171insT (n.3170_3171insT) c.11697_11698insT (p.Gln3900SerfsTer?) c.11679_11680insT (p.Gln3894SerfsTer?) c.11607_11608insT (p.Gln3870SerfsTer?) n.14020_14021insT n.13009_13010insT | COSMIC COSMIC |
| 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.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 |