| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49024618A= | CA2034964082 | KMT2D | n.684T= c.16012T= (p.Cys5338=) n.1727T= c.547T= (p.Cys183=) n.547T= c.1166T= c.16021T= (p.Cys5341=) c.489T= (n.489T=) c.91T= (p.Cys31=) c.16009T= (p.Cys5337=) c.7T= (p.Cys3=) c.16018T= (p.Cys5340=) c.16000T= (p.Cys5334=) c.15955T= (p.Cys5319=) c.15928T= (p.Cys5310=) n.16189T= | |
| 12 | g.49024618A>C | CA384681336 | KMT2D | n.684T>G c.16012T>G (p.Cys5338Gly) n.1727T>G c.547T>G (p.Cys183Gly) n.547T>G c.1166T>G c.16021T>G (p.Cys5341Gly) c.489T>G (n.489T>G) c.91T>G (p.Cys31Gly) c.16009T>G (p.Cys5337Gly) c.7T>G (p.Cys3Gly) c.16018T>G (p.Cys5340Gly) c.16000T>G (p.Cys5334Gly) c.15955T>G (p.Cys5319Gly) c.15928T>G (p.Cys5310Gly) n.16189T>G | |
| 12 | g.49024618A>G | CA16606557 | KMT2D | n.684T>C c.16012T>C (p.Cys5338Arg) n.1727T>C c.547T>C (p.Cys183Arg) n.547T>C c.1166T>C c.16021T>C (p.Cys5341Arg) c.489T>C (n.489T>C) c.91T>C (p.Cys31Arg) c.16009T>C (p.Cys5337Arg) c.7T>C (p.Cys3Arg) c.16018T>C (p.Cys5340Arg) c.16000T>C (p.Cys5334Arg) c.15955T>C (p.Cys5319Arg) c.15928T>C (p.Cys5310Arg) n.16189T>C | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49024618A>T | CA384681343 | KMT2D | n.684T>A c.16012T>A (p.Cys5338Ser) n.1727T>A c.547T>A (p.Cys183Ser) n.547T>A c.1166T>A c.16021T>A (p.Cys5341Ser) c.489T>A (n.489T>A) c.91T>A (p.Cys31Ser) c.16009T>A (p.Cys5337Ser) c.7T>A (p.Cys3Ser) c.16018T>A (p.Cys5340Ser) c.16000T>A (p.Cys5334Ser) c.15955T>A (p.Cys5319Ser) c.15928T>A (p.Cys5310Ser) n.16189T>A | |
| 12 | g.49024619G>A | CA479521666 | KMT2D | n.683C>T c.16011C>T (p.Gly5337=) n.1726C>T c.546C>T (p.Gly182=) n.546C>T c.1165C>T c.16020C>T (p.Gly5340=) c.488C>T (n.488C>T) c.90C>T (p.Gly30=) c.16008C>T (p.Gly5336=) c.6C>T (p.Gly2=) c.16017C>T (p.Gly5339=) c.15999C>T (p.Gly5333=) c.15954C>T (p.Gly5318=) c.15927C>T (p.Gly5309=) n.16188C>T | gnomAD v4 |
| 12 | g.49024619G>C | CA479521665 | KMT2D | n.683C>G c.16011C>G (p.Gly5337=) n.1726C>G c.546C>G (p.Gly182=) n.546C>G c.1165C>G c.16020C>G (p.Gly5340=) c.488C>G (n.488C>G) c.90C>G (p.Gly30=) c.16008C>G (p.Gly5336=) c.6C>G (p.Gly2=) c.16017C>G (p.Gly5339=) c.15999C>G (p.Gly5333=) c.15954C>G (p.Gly5318=) c.15927C>G (p.Gly5309=) n.16188C>G | gnomAD v4 |
| 12 | g.49024619G>T | CA479521664 | KMT2D | n.683C>A c.16011C>A (p.Gly5337=) n.1726C>A c.546C>A (p.Gly182=) n.546C>A c.1165C>A c.16020C>A (p.Gly5340=) c.488C>A (n.488C>A) c.90C>A (p.Gly30=) c.16008C>A (p.Gly5336=) c.6C>A (p.Gly2=) c.16017C>A (p.Gly5339=) c.15999C>A (p.Gly5333=) c.15954C>A (p.Gly5318=) c.15927C>A (p.Gly5309=) n.16188C>A | |
| 12 | g.49024620C>A | CA384681346 | KMT2D | n.682G>T c.16010G>T (p.Gly5337Val) n.1725G>T c.545G>T (p.Gly182Val) n.545G>T c.1164G>T c.16019G>T (p.Gly5340Val) c.487G>T (n.487G>T) c.89G>T (p.Gly30Val) c.16007G>T (p.Gly5336Val) c.5G>T (p.Gly2Val) c.16016G>T (p.Gly5339Val) c.15998G>T (p.Gly5333Val) c.15953G>T (p.Gly5318Val) c.15926G>T (p.Gly5309Val) n.16187G>T | |
| 12 | g.49024620C>G | CA384681352 | KMT2D | n.682G>C c.16010G>C (p.Gly5337Ala) n.1725G>C c.545G>C (p.Gly182Ala) n.545G>C c.1164G>C c.16019G>C (p.Gly5340Ala) c.487G>C (n.487G>C) c.89G>C (p.Gly30Ala) c.16007G>C (p.Gly5336Ala) c.5G>C (p.Gly2Ala) c.16016G>C (p.Gly5339Ala) c.15998G>C (p.Gly5333Ala) c.15953G>C (p.Gly5318Ala) c.15926G>C (p.Gly5309Ala) n.16187G>C | |
| 12 | g.49024620C>T | CA384681349 | KMT2D | n.682G>A c.16010G>A (p.Gly5337Asp) n.1725G>A c.545G>A (p.Gly182Asp) n.545G>A c.1164G>A c.16019G>A (p.Gly5340Asp) c.487G>A (n.487G>A) c.89G>A (p.Gly30Asp) c.16007G>A (p.Gly5336Asp) c.5G>A (p.Gly2Asp) c.16016G>A (p.Gly5339Asp) c.15998G>A (p.Gly5333Asp) c.15953G>A (p.Gly5318Asp) c.15926G>A (p.Gly5309Asp) n.16187G>A | dbSNP |
| 12 | g.49024621C>A | CA384681356 | KMT2D | n.681G>T c.16009G>T (p.Gly5337Cys) n.1724G>T c.544G>T (p.Gly182Cys) n.544G>T c.1163G>T c.16018G>T (p.Gly5340Cys) c.486G>T (n.486G>T) c.88G>T (p.Gly30Cys) c.16006G>T (p.Gly5336Cys) c.4G>T (p.Gly2Cys) c.16015G>T (p.Gly5339Cys) c.15997G>T (p.Gly5333Cys) c.15952G>T (p.Gly5318Cys) c.15925G>T (p.Gly5309Cys) n.16186G>T | |
| 12 | g.49024621C>G | CA384681364 | KMT2D | n.681G>C c.16009G>C (p.Gly5337Arg) n.1724G>C c.544G>C (p.Gly182Arg) n.544G>C c.1163G>C c.16018G>C (p.Gly5340Arg) c.486G>C (n.486G>C) c.88G>C (p.Gly30Arg) c.16006G>C (p.Gly5336Arg) c.4G>C (p.Gly2Arg) c.16015G>C (p.Gly5339Arg) c.15997G>C (p.Gly5333Arg) c.15952G>C (p.Gly5318Arg) c.15925G>C (p.Gly5309Arg) n.16186G>C | |
| 12 | g.49024621C>T | CA384681358 | KMT2D | n.681G>A c.16009G>A (p.Gly5337Ser) n.1724G>A c.544G>A (p.Gly182Ser) n.544G>A c.1163G>A c.16018G>A (p.Gly5340Ser) c.486G>A (n.486G>A) c.88G>A (p.Gly30Ser) c.16006G>A (p.Gly5336Ser) c.4G>A (p.Gly2Ser) c.16015G>A (p.Gly5339Ser) c.15997G>A (p.Gly5333Ser) c.15952G>A (p.Gly5318Ser) c.15925G>A (p.Gly5309Ser) n.16186G>A | |
| 12 | g.49024622A>C | CA479521667 | KMT2D | n.680T>G c.16008T>G (p.Thr5336=) n.1723T>G c.543T>G (p.Thr181=) n.543T>G c.1162T>G c.16017T>G (p.Thr5339=) c.485T>G (n.485T>G) c.87T>G (p.Thr29=) c.16005T>G (p.Thr5335=) c.3T>G (p.Thr1=) c.16014T>G (p.Thr5338=) c.15996T>G (p.Thr5332=) c.15951T>G (p.Thr5317=) c.15924T>G (p.Thr5308=) n.16185T>G | |
| 12 | g.49024622A>G | CA479521668 | KMT2D | n.680T>C c.16008T>C (p.Thr5336=) n.1723T>C c.543T>C (p.Thr181=) n.543T>C c.1162T>C c.16017T>C (p.Thr5339=) c.485T>C (n.485T>C) c.87T>C (p.Thr29=) c.16005T>C (p.Thr5335=) c.3T>C (p.Thr1=) c.16014T>C (p.Thr5338=) c.15996T>C (p.Thr5332=) c.15951T>C (p.Thr5317=) c.15924T>C (p.Thr5308=) n.16185T>C | |
| 12 | g.49024622A>T | CA479521669 | KMT2D | n.680T>A c.16008T>A (p.Thr5336=) n.1723T>A c.543T>A (p.Thr181=) n.543T>A c.1162T>A c.16017T>A (p.Thr5339=) c.485T>A (n.485T>A) c.87T>A (p.Thr29=) c.16005T>A (p.Thr5335=) c.3T>A (p.Thr1=) c.16014T>A (p.Thr5338=) c.15996T>A (p.Thr5332=) c.15951T>A (p.Thr5317=) c.15924T>A (p.Thr5308=) n.16185T>A | |
| 12 | g.49024623G>A | CA384681368 | KMT2D | n.679C>T c.16007C>T (p.Thr5336Ile) n.1722C>T c.542C>T (p.Thr181Ile) n.542C>T c.1161C>T c.16016C>T (p.Thr5339Ile) c.484C>T (n.484C>T) c.86C>T (p.Thr29Ile) c.16004C>T (p.Thr5335Ile) c.2C>T (p.Thr1Ile) c.16013C>T (p.Thr5338Ile) c.15995C>T (p.Thr5332Ile) c.15950C>T (p.Thr5317Ile) c.15923C>T (p.Thr5308Ile) n.16184C>T | |
| 12 | g.49024623G>C | CA384681371 | KMT2D | n.679C>G c.16007C>G (p.Thr5336Ser) n.1722C>G c.542C>G (p.Thr181Ser) n.542C>G c.1161C>G c.16016C>G (p.Thr5339Ser) c.484C>G (n.484C>G) c.86C>G (p.Thr29Ser) c.16004C>G (p.Thr5335Ser) c.2C>G (p.Thr1Ser) c.16013C>G (p.Thr5338Ser) c.15995C>G (p.Thr5332Ser) c.15950C>G (p.Thr5317Ser) c.15923C>G (p.Thr5308Ser) n.16184C>G | |
| 12 | g.49024623G>T | CA384681374 | KMT2D | n.679C>A c.16007C>A (p.Thr5336Asn) n.1722C>A c.542C>A (p.Thr181Asn) n.542C>A c.1161C>A c.16016C>A (p.Thr5339Asn) c.484C>A (n.484C>A) c.86C>A (p.Thr29Asn) c.16004C>A (p.Thr5335Asn) c.2C>A (p.Thr1Asn) c.16013C>A (p.Thr5338Asn) c.15995C>A (p.Thr5332Asn) c.15950C>A (p.Thr5317Asn) c.15923C>A (p.Thr5308Asn) n.16184C>A | |
| 12 | g.49024624T>A | CA384681379 | KMT2D | n.678A>T c.16006A>T (p.Thr5336Ser) n.1721A>T c.541A>T (p.Thr181Ser) n.541A>T c.1160A>T c.16015A>T (p.Thr5339Ser) c.483A>T (n.483A>T) c.85A>T (p.Thr29Ser) c.16003A>T (p.Thr5335Ser) c.1A>T (p.Thr1Ser) c.16012A>T (p.Thr5338Ser) c.15994A>T (p.Thr5332Ser) c.15949A>T (p.Thr5317Ser) c.15922A>T (p.Thr5308Ser) n.16183A>T | |
| 12 | g.49024624T>C | CA384681381 | KMT2D | n.678A>G c.16006A>G (p.Thr5336Ala) n.1721A>G c.541A>G (p.Thr181Ala) n.541A>G c.1160A>G c.16015A>G (p.Thr5339Ala) c.483A>G (n.483A>G) c.85A>G (p.Thr29Ala) c.16003A>G (p.Thr5335Ala) c.1A>G (p.Thr1Ala) c.16012A>G (p.Thr5338Ala) c.15994A>G (p.Thr5332Ala) c.15949A>G (p.Thr5317Ala) c.15922A>G (p.Thr5308Ala) n.16183A>G | |
| 12 | g.49024624T>G | CA384681384 | KMT2D | n.678A>C c.16006A>C (p.Thr5336Pro) n.1721A>C c.541A>C (p.Thr181Pro) n.541A>C c.1160A>C c.16015A>C (p.Thr5339Pro) c.483A>C (n.483A>C) c.85A>C (p.Thr29Pro) c.16003A>C (p.Thr5335Pro) c.1A>C (p.Thr1Pro) c.16012A>C (p.Thr5338Pro) c.15994A>C (p.Thr5332Pro) c.15949A>C (p.Thr5317Pro) c.15922A>C (p.Thr5308Pro) n.16183A>C | |
| 12 | g.49024625G>A | CA479521670 | KMT2D | n.677C>T c.16005C>T (p.Pro5335=) n.1720C>T c.540C>T (p.Pro180=) n.540C>T c.1159C>T c.16014C>T (p.Pro5338=) c.482C>T (n.482C>T) c.84C>T (p.Pro28=) c.16002C>T (p.Pro5334=) c.16011C>T (p.Pro5337=) c.15993C>T (p.Pro5331=) c.15948C>T (p.Pro5316=) c.15921C>T (p.Pro5307=) n.16182C>T | |
| 12 | g.49024625G>C | CA479521672 | KMT2D | n.677C>G c.16005C>G (p.Pro5335=) n.1720C>G c.540C>G (p.Pro180=) n.540C>G c.1159C>G c.16014C>G (p.Pro5338=) c.482C>G (n.482C>G) c.84C>G (p.Pro28=) c.16002C>G (p.Pro5334=) c.16011C>G (p.Pro5337=) c.15993C>G (p.Pro5331=) c.15948C>G (p.Pro5316=) c.15921C>G (p.Pro5307=) n.16182C>G | |
| 12 | g.49024625G>T | CA479521671 | KMT2D | n.677C>A c.16005C>A (p.Pro5335=) n.1720C>A c.540C>A (p.Pro180=) n.540C>A c.1159C>A c.16014C>A (p.Pro5338=) c.482C>A (n.482C>A) c.84C>A (p.Pro28=) c.16002C>A (p.Pro5334=) c.16011C>A (p.Pro5337=) c.15993C>A (p.Pro5331=) c.15948C>A (p.Pro5316=) c.15921C>A (p.Pro5307=) n.16182C>A | |
| 12 | g.49024626G>A | CA384681388 | KMT2D | n.676C>T c.16004C>T (p.Pro5335Leu) n.1719C>T c.539C>T (p.Pro180Leu) n.539C>T c.1158C>T c.16013C>T (p.Pro5338Leu) c.481C>T (n.481C>T) c.83C>T (p.Pro28Leu) c.16001C>T (p.Pro5334Leu) c.16010C>T (p.Pro5337Leu) c.15992C>T (p.Pro5331Leu) c.15947C>T (p.Pro5316Leu) c.15920C>T (p.Pro5307Leu) n.16181C>T | |
| 12 | g.49024626G>C | CA384681390 | KMT2D | n.676C>G c.16004C>G (p.Pro5335Arg) n.1719C>G c.539C>G (p.Pro180Arg) n.539C>G c.1158C>G c.16013C>G (p.Pro5338Arg) c.481C>G (n.481C>G) c.83C>G (p.Pro28Arg) c.16001C>G (p.Pro5334Arg) c.16010C>G (p.Pro5337Arg) c.15992C>G (p.Pro5331Arg) c.15947C>G (p.Pro5316Arg) c.15920C>G (p.Pro5307Arg) n.16181C>G | |
| 12 | g.49024626G>T | CA384681391 | KMT2D | n.676C>A c.16004C>A (p.Pro5335His) n.1719C>A c.539C>A (p.Pro180His) n.539C>A c.1158C>A c.16013C>A (p.Pro5338His) c.481C>A (n.481C>A) c.83C>A (p.Pro28His) c.16001C>A (p.Pro5334His) c.16010C>A (p.Pro5337His) c.15992C>A (p.Pro5331His) c.15947C>A (p.Pro5316His) c.15920C>A (p.Pro5307His) n.16181C>A | |
| 12 | g.49024626_49024627insAGAAAATGGGGAATCACTCTTAGACTTCCTAATTA | CA2726328083 | KMT2D | n.675_676insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5335LeufsTer?) n.1718_1719insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT c.538_539insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro180LeufsTer33) n.538_539insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT c.1157_1158insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5338LeufsTer33) c.480_481insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (n.480_481insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT) c.82_83insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro28LeufsTer?) c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5334LeufsTer33) c.16003_16004insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5335LeufsTer33) c.16012_16013insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5338LeufsTer?) c.16009_16010insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5337LeufsTer?) c.16000_16001insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5334LeufsTer?) c.15991_15992insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5331LeufsTer?) c.15946_15947insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5316LeufsTer?) c.15919_15920insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT (p.Pro5307LeufsTer?) n.16180_16181insTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCT | dbSNP |
| 12 | g.49024627G>A | CA384681394 | KMT2D | n.675C>T c.16003C>T (p.Pro5335Ser) n.1718C>T c.538C>T (p.Pro180Ser) n.538C>T c.1157C>T c.16012C>T (p.Pro5338Ser) c.480C>T (n.480C>T) c.82C>T (p.Pro28Ser) c.16000C>T (p.Pro5334Ser) c.16009C>T (p.Pro5337Ser) c.15991C>T (p.Pro5331Ser) c.15946C>T (p.Pro5316Ser) c.15919C>T (p.Pro5307Ser) n.16180C>T | |
| 12 | g.49024627G>C | CA384681395 | KMT2D | n.675C>G c.16003C>G (p.Pro5335Ala) n.1718C>G c.538C>G (p.Pro180Ala) n.538C>G c.1157C>G c.16012C>G (p.Pro5338Ala) c.480C>G (n.480C>G) c.82C>G (p.Pro28Ala) c.16000C>G (p.Pro5334Ala) c.16009C>G (p.Pro5337Ala) c.15991C>G (p.Pro5331Ala) c.15946C>G (p.Pro5316Ala) c.15919C>G (p.Pro5307Ala) n.16180C>G | |
| 12 | g.49024627G>T | CA384681397 | KMT2D | n.675C>A c.16003C>A (p.Pro5335Thr) n.1718C>A c.538C>A (p.Pro180Thr) n.538C>A c.1157C>A c.16012C>A (p.Pro5338Thr) c.480C>A (n.480C>A) c.82C>A (p.Pro28Thr) c.16000C>A (p.Pro5334Thr) c.16009C>A (p.Pro5337Thr) c.15991C>A (p.Pro5331Thr) c.15946C>A (p.Pro5316Thr) c.15919C>A (p.Pro5307Thr) n.16180C>A | |
| 12 | g.49024628G>A | CA479521673 | KMT2D | n.674C>T c.16002C>T (p.Asn5334=) n.1717C>T c.537C>T (p.Asn179=) n.537C>T c.1156C>T c.16011C>T (p.Asn5337=) c.479C>T (n.479C>T) c.81C>T (p.Asn27=) c.15999C>T (p.Asn5333=) c.16008C>T (p.Asn5336=) c.15990C>T (p.Asn5330=) c.15945C>T (p.Asn5315=) c.15918C>T (p.Asn5306=) n.16179C>T | ClinVar gnomAD v4 |
| 12 | g.49024628G>C | CA384681399 | KMT2D | n.674C>G c.16002C>G (p.Asn5334Lys) n.1717C>G c.537C>G (p.Asn179Lys) n.537C>G c.1156C>G c.16011C>G (p.Asn5337Lys) c.479C>G (n.479C>G) c.81C>G (p.Asn27Lys) c.15999C>G (p.Asn5333Lys) c.16008C>G (p.Asn5336Lys) c.15990C>G (p.Asn5330Lys) c.15945C>G (p.Asn5315Lys) c.15918C>G (p.Asn5306Lys) n.16179C>G | |
| 12 | g.49024628G>T | CA384681400 | KMT2D | n.674C>A c.16002C>A (p.Asn5334Lys) n.1717C>A c.537C>A (p.Asn179Lys) n.537C>A c.1156C>A c.16011C>A (p.Asn5337Lys) c.479C>A (n.479C>A) c.81C>A (p.Asn27Lys) c.15999C>A (p.Asn5333Lys) c.16008C>A (p.Asn5336Lys) c.15990C>A (p.Asn5330Lys) c.15945C>A (p.Asn5315Lys) c.15918C>A (p.Asn5306Lys) n.16179C>A | gnomAD v4 |
| 12 | g.49024629T>A | CA384681401 | KMT2D | n.673A>T c.16001A>T (p.Asn5334Ile) n.1716A>T c.536A>T (p.Asn179Ile) n.536A>T c.1155A>T c.16010A>T (p.Asn5337Ile) c.478A>T (n.478A>T) c.80A>T (p.Asn27Ile) c.15998A>T (p.Asn5333Ile) c.16007A>T (p.Asn5336Ile) c.15989A>T (p.Asn5330Ile) c.15944A>T (p.Asn5315Ile) c.15917A>T (p.Asn5306Ile) n.16178A>T | |
| 12 | g.49024629T>C | CA384681402 | KMT2D | n.673A>G c.16001A>G (p.Asn5334Ser) n.1716A>G c.536A>G (p.Asn179Ser) n.536A>G c.1155A>G c.16010A>G (p.Asn5337Ser) c.478A>G (n.478A>G) c.80A>G (p.Asn27Ser) c.15998A>G (p.Asn5333Ser) c.16007A>G (p.Asn5336Ser) c.15989A>G (p.Asn5330Ser) c.15944A>G (p.Asn5315Ser) c.15917A>G (p.Asn5306Ser) n.16178A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49024629T>G | CA384681403 | KMT2D | n.673A>C c.16001A>C (p.Asn5334Thr) n.1716A>C c.536A>C (p.Asn179Thr) n.536A>C c.1155A>C c.16010A>C (p.Asn5337Thr) c.478A>C (n.478A>C) c.80A>C (p.Asn27Thr) c.15998A>C (p.Asn5333Thr) c.16007A>C (p.Asn5336Thr) c.15989A>C (p.Asn5330Thr) c.15944A>C (p.Asn5315Thr) c.15917A>C (p.Asn5306Thr) n.16178A>C | |
| 12 | g.49024629T= | CA2034964083 | KMT2D | n.673A= c.16001A= (p.Asn5334=) n.1716A= c.536A= (p.Asn179=) n.536A= c.1155A= c.16010A= (p.Asn5337=) c.478A= (n.478A=) c.80A= (p.Asn27=) c.15998A= (p.Asn5333=) c.16007A= (p.Asn5336=) c.15989A= (p.Asn5330=) c.15944A= (p.Asn5315=) c.15917A= (p.Asn5306=) n.16178A= | |
| 12 | g.49024630T>A | CA384681406 | KMT2D | n.672A>T c.16000A>T (p.Asn5334Tyr) n.1715A>T c.535A>T (p.Asn179Tyr) n.535A>T c.1154A>T c.16009A>T (p.Asn5337Tyr) c.477A>T (n.477A>T) c.79A>T (p.Asn27Tyr) c.15997A>T (p.Asn5333Tyr) c.16006A>T (p.Asn5336Tyr) c.15988A>T (p.Asn5330Tyr) c.15943A>T (p.Asn5315Tyr) c.15916A>T (p.Asn5306Tyr) n.16177A>T | |
| 12 | g.49024630T>C | CA384681409 | KMT2D | n.672A>G c.16000A>G (p.Asn5334Asp) n.1715A>G c.535A>G (p.Asn179Asp) n.535A>G c.1154A>G c.16009A>G (p.Asn5337Asp) c.477A>G (n.477A>G) c.79A>G (p.Asn27Asp) c.15997A>G (p.Asn5333Asp) c.16006A>G (p.Asn5336Asp) c.15988A>G (p.Asn5330Asp) c.15943A>G (p.Asn5315Asp) c.15916A>G (p.Asn5306Asp) n.16177A>G | |
| 12 | g.49024630T>G | CA384681413 | KMT2D | n.672A>C c.16000A>C (p.Asn5334His) n.1715A>C c.535A>C (p.Asn179His) n.535A>C c.1154A>C c.16009A>C (p.Asn5337His) c.477A>C (n.477A>C) c.79A>C (p.Asn27His) c.15997A>C (p.Asn5333His) c.16006A>C (p.Asn5336His) c.15988A>C (p.Asn5330His) c.15943A>C (p.Asn5315His) c.15916A>C (p.Asn5306His) n.16177A>C | |
| 12 | g.49024631G>A | CA479521674 | KMT2D | n.671C>T c.15999C>T (p.Ile5333=) n.1714C>T c.534C>T (p.Ile178=) n.534C>T c.1153C>T c.16008C>T (p.Ile5336=) c.476C>T (n.476C>T) c.78C>T (p.Ile26=) c.15996C>T (p.Ile5332=) c.16005C>T (p.Ile5335=) c.15987C>T (p.Ile5329=) c.15942C>T (p.Ile5314=) c.15915C>T (p.Ile5305=) n.16176C>T | |
| 12 | g.49024631G>C | CA384681416 | KMT2D | n.671C>G c.15999C>G (p.Ile5333Met) n.1714C>G c.534C>G (p.Ile178Met) n.534C>G c.1153C>G c.16008C>G (p.Ile5336Met) c.476C>G (n.476C>G) c.78C>G (p.Ile26Met) c.15996C>G (p.Ile5332Met) c.16005C>G (p.Ile5335Met) c.15987C>G (p.Ile5329Met) c.15942C>G (p.Ile5314Met) c.15915C>G (p.Ile5305Met) n.16176C>G | |
| 12 | g.49024631G>T | CA479521675 | KMT2D | n.671C>A c.15999C>A (p.Ile5333=) n.1714C>A c.534C>A (p.Ile178=) n.534C>A c.1153C>A c.16008C>A (p.Ile5336=) c.476C>A (n.476C>A) c.78C>A (p.Ile26=) c.15996C>A (p.Ile5332=) c.16005C>A (p.Ile5335=) c.15987C>A (p.Ile5329=) c.15942C>A (p.Ile5314=) c.15915C>A (p.Ile5305=) n.16176C>A | |
| 12 | g.49024632A>C | CA384681419 | KMT2D | n.670T>G c.15998T>G (p.Ile5333Ser) n.1713T>G c.533T>G (p.Ile178Ser) n.533T>G c.1152T>G c.16007T>G (p.Ile5336Ser) c.475T>G (n.475T>G) c.77T>G (p.Ile26Ser) c.15995T>G (p.Ile5332Ser) c.16004T>G (p.Ile5335Ser) c.15986T>G (p.Ile5329Ser) c.15941T>G (p.Ile5314Ser) c.15914T>G (p.Ile5305Ser) n.16175T>G | |
| 12 | g.49024632A>G | CA384681421 | KMT2D | n.670T>C c.15998T>C (p.Ile5333Thr) n.1713T>C c.533T>C (p.Ile178Thr) n.533T>C c.1152T>C c.16007T>C (p.Ile5336Thr) c.475T>C (n.475T>C) c.77T>C (p.Ile26Thr) c.15995T>C (p.Ile5332Thr) c.16004T>C (p.Ile5335Thr) c.15986T>C (p.Ile5329Thr) c.15941T>C (p.Ile5314Thr) c.15914T>C (p.Ile5305Thr) n.16175T>C | |
| 12 | g.49024632A>T | CA384681423 | KMT2D | n.670T>A c.15998T>A (p.Ile5333Asn) n.1713T>A c.533T>A (p.Ile178Asn) n.533T>A c.1152T>A c.16007T>A (p.Ile5336Asn) c.475T>A (n.475T>A) c.77T>A (p.Ile26Asn) c.15995T>A (p.Ile5332Asn) c.16004T>A (p.Ile5335Asn) c.15986T>A (p.Ile5329Asn) c.15941T>A (p.Ile5314Asn) c.15914T>A (p.Ile5305Asn) n.16175T>A | |
| 12 | g.49024633T>A | CA384681428 | KMT2D | n.669A>T c.15997A>T (p.Ile5333Phe) n.1712A>T c.532A>T (p.Ile178Phe) n.532A>T c.1151A>T c.16006A>T (p.Ile5336Phe) c.474A>T (n.474A>T) c.76A>T (p.Ile26Phe) c.15994A>T (p.Ile5332Phe) c.16003A>T (p.Ile5335Phe) c.15985A>T (p.Ile5329Phe) c.15940A>T (p.Ile5314Phe) c.15913A>T (p.Ile5305Phe) n.16174A>T | |
| 12 | g.49024633T>C | CA384681429 | KMT2D | n.669A>G c.15997A>G (p.Ile5333Val) n.1712A>G c.532A>G (p.Ile178Val) n.532A>G c.1151A>G c.16006A>G (p.Ile5336Val) c.474A>G (n.474A>G) c.76A>G (p.Ile26Val) c.15994A>G (p.Ile5332Val) c.16003A>G (p.Ile5335Val) c.15985A>G (p.Ile5329Val) c.15940A>G (p.Ile5314Val) c.15913A>G (p.Ile5305Val) n.16174A>G |