Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49040811_49045663del | CA1139662644 | KMT2D | c.4741+257_6959del c.4741+257_6968del c.4738+257_6956del c.4738+257_6965del c.4741+257_6947del c.4741+257_6875del n.7061+257_9288del n.6050+257_8277del | ClinVar |
12 | g.49042032_49042059dup | CA2618609297 | KMT2D | c.900+35_901-37dup c.6109+35_6110-37dup (n.6109+35_6110-37dup) c.6118+35_6119-37dup (n.6118+35_6119-37dup) c.221+35_222-37dup c.6106+35_6107-37dup (n.6106+35_6107-37dup) c.6115+35_6116-37dup (n.6115+35_6116-37dup) c.6097+35_6098-37dup (n.6097+35_6098-37dup) n.8438+35_8439-37dup n.7427+35_7428-37dup | gnomAD v4 |
12 | g.49042053G>A | CA689532207 | KMT2D | c.900+36C>T c.6109+36C>T (n.6109+36C>T) c.6118+36C>T (n.6118+36C>T) c.221+36C>T c.6106+36C>T (n.6106+36C>T) c.6115+36C>T (n.6115+36C>T) c.6097+36C>T (n.6097+36C>T) n.8438+36C>T n.7427+36C>T | dbSNP |
12 | g.49042053G= | CA2034947794 | KMT2D | c.900+36C= c.6109+36C= (n.6109+36C=) c.6118+36C= (n.6118+36C=) c.221+36C= c.6106+36C= (n.6106+36C=) c.6115+36C= (n.6115+36C=) c.6097+36C= (n.6097+36C=) n.8438+36C= n.7427+36C= | |
12 | g.49042054C>A | CA2726161236 | KMT2D | c.900+35G>T c.6109+35G>T (n.6109+35G>T) c.6118+35G>T (n.6118+35G>T) c.221+35G>T c.6106+35G>T (n.6106+35G>T) c.6115+35G>T (n.6115+35G>T) c.6097+35G>T (n.6097+35G>T) n.8438+35G>T n.7427+35G>T | dbSNP |
12 | g.49042054C>G | CA2726161237 | KMT2D | c.900+35G>C c.6109+35G>C (n.6109+35G>C) c.6118+35G>C (n.6118+35G>C) c.221+35G>C c.6106+35G>C (n.6106+35G>C) c.6115+35G>C (n.6115+35G>C) c.6097+35G>C (n.6097+35G>C) n.8438+35G>C n.7427+35G>C | dbSNP |
12 | g.49042058G>A | CA689532211 | KMT2D | c.900+31C>T c.6109+31C>T (n.6109+31C>T) c.6118+31C>T (n.6118+31C>T) c.221+31C>T c.6106+31C>T (n.6106+31C>T) c.6115+31C>T (n.6115+31C>T) c.6097+31C>T (n.6097+31C>T) n.8438+31C>T n.7427+31C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042058G>C | CA6547373 | KMT2D | c.900+31C>G c.6109+31C>G (n.6109+31C>G) c.6118+31C>G (n.6118+31C>G) c.221+31C>G c.6106+31C>G (n.6106+31C>G) c.6115+31C>G (n.6115+31C>G) c.6097+31C>G (n.6097+31C>G) n.8438+31C>G n.7427+31C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49042058G= | CA2034947795 | KMT2D | c.900+31C= c.6109+31C= (n.6109+31C=) c.6118+31C= (n.6118+31C=) c.221+31C= c.6106+31C= (n.6106+31C=) c.6115+31C= (n.6115+31C=) c.6097+31C= (n.6097+31C=) n.8438+31C= n.7427+31C= | |
12 | g.49042059C= | CA2034947796 | KMT2D | c.900+30G= c.6109+30G= (n.6109+30G=) c.6118+30G= (n.6118+30G=) c.221+30G= c.6106+30G= (n.6106+30G=) c.6115+30G= (n.6115+30G=) c.6097+30G= (n.6097+30G=) n.8438+30G= n.7427+30G= | |
12 | g.49042059C>T | CA605234240 | KMT2D | c.900+30G>A c.6109+30G>A (n.6109+30G>A) c.6118+30G>A (n.6118+30G>A) c.221+30G>A c.6106+30G>A (n.6106+30G>A) c.6115+30G>A (n.6115+30G>A) c.6097+30G>A (n.6097+30G>A) n.8438+30G>A n.7427+30G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042061G>A | CA6547374 | KMT2D | c.900+28C>T c.6109+28C>T (n.6109+28C>T) c.6118+28C>T (n.6118+28C>T) c.221+28C>T c.6106+28C>T (n.6106+28C>T) c.6115+28C>T (n.6115+28C>T) c.6097+28C>T (n.6097+28C>T) n.8438+28C>T n.7427+28C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49042061G= | CA2034947797 | KMT2D | c.900+28C= c.6109+28C= (n.6109+28C=) c.6118+28C= (n.6118+28C=) c.221+28C= c.6106+28C= (n.6106+28C=) c.6115+28C= (n.6115+28C=) c.6097+28C= (n.6097+28C=) n.8438+28C= n.7427+28C= | |
12 | g.49042062T>C | CA6547375 | KMT2D | c.900+27A>G c.6109+27A>G (n.6109+27A>G) c.6118+27A>G (n.6118+27A>G) c.221+27A>G c.6106+27A>G (n.6106+27A>G) c.6115+27A>G (n.6115+27A>G) c.6097+27A>G (n.6097+27A>G) n.8438+27A>G n.7427+27A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49042062T= | CA2034947798 | KMT2D | c.900+27A= c.6109+27A= (n.6109+27A=) c.6118+27A= (n.6118+27A=) c.221+27A= c.6106+27A= (n.6106+27A=) c.6115+27A= (n.6115+27A=) c.6097+27A= (n.6097+27A=) n.8438+27A= n.7427+27A= | |
12 | g.49042063C= | CA2034947799 | KMT2D | c.900+26G= c.6109+26G= (n.6109+26G=) c.6118+26G= (n.6118+26G=) c.221+26G= c.6106+26G= (n.6106+26G=) c.6115+26G= (n.6115+26G=) c.6097+26G= (n.6097+26G=) n.8438+26G= n.7427+26G= | |
12 | g.49042063C>G | CA2596249099 | KMT2D | c.900+26G>C c.6109+26G>C (n.6109+26G>C) c.6118+26G>C (n.6118+26G>C) c.221+26G>C c.6106+26G>C (n.6106+26G>C) c.6115+26G>C (n.6115+26G>C) c.6097+26G>C (n.6097+26G>C) n.8438+26G>C n.7427+26G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042063C>T | CA605234241 | KMT2D | c.900+26G>A c.6109+26G>A (n.6109+26G>A) c.6118+26G>A (n.6118+26G>A) c.221+26G>A c.6106+26G>A (n.6106+26G>A) c.6115+26G>A (n.6115+26G>A) c.6097+26G>A (n.6097+26G>A) n.8438+26G>A n.7427+26G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042066C>G | CA2726161238 | KMT2D | c.900+23G>C c.6109+23G>C (n.6109+23G>C) c.6118+23G>C (n.6118+23G>C) c.221+23G>C c.6106+23G>C (n.6106+23G>C) c.6115+23G>C (n.6115+23G>C) c.6097+23G>C (n.6097+23G>C) n.8438+23G>C n.7427+23G>C | dbSNP |
12 | g.49042067C>A | CA2726055263 | KMT2D | c.900+22G>T c.6109+22G>T (n.6109+22G>T) c.6118+22G>T (n.6118+22G>T) c.221+22G>T c.6106+22G>T (n.6106+22G>T) c.6115+22G>T (n.6115+22G>T) c.6097+22G>T (n.6097+22G>T) n.8438+22G>T n.7427+22G>T | dbSNP |
12 | g.49042067C= | CA2034947801 | KMT2D | c.900+22G= c.6109+22G= (n.6109+22G=) c.6118+22G= (n.6118+22G=) c.221+22G= c.6106+22G= (n.6106+22G=) c.6115+22G= (n.6115+22G=) c.6097+22G= (n.6097+22G=) n.8438+22G= n.7427+22G= | |
12 | g.49042067C>G | CA2034947800 | KMT2D | c.900+22G>C c.6109+22G>C (n.6109+22G>C) c.6118+22G>C (n.6118+22G>C) c.221+22G>C c.6106+22G>C (n.6106+22G>C) c.6115+22G>C (n.6115+22G>C) c.6097+22G>C (n.6097+22G>C) n.8438+22G>C n.7427+22G>C | dbSNP |
12 | g.49042067C>T | CA236612478 | KMT2D | c.900+22G>A c.6109+22G>A (n.6109+22G>A) c.6118+22G>A (n.6118+22G>A) c.221+22G>A c.6106+22G>A (n.6106+22G>A) c.6115+22G>A (n.6115+22G>A) c.6097+22G>A (n.6097+22G>A) n.8438+22G>A n.7427+22G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042070G>A | CA689532233 | KMT2D | c.900+19C>T c.6109+19C>T (n.6109+19C>T) c.6118+19C>T (n.6118+19C>T) c.221+19C>T c.6106+19C>T (n.6106+19C>T) c.6115+19C>T (n.6115+19C>T) c.6097+19C>T (n.6097+19C>T) n.8438+19C>T n.7427+19C>T | dbSNP |
12 | g.49042070G= | CA2034947802 | KMT2D | c.900+19C= c.6109+19C= (n.6109+19C=) c.6118+19C= (n.6118+19C=) c.221+19C= c.6106+19C= (n.6106+19C=) c.6115+19C= (n.6115+19C=) c.6097+19C= (n.6097+19C=) n.8438+19C= n.7427+19C= | |
12 | g.49042070_49042071delinsGC | CA2034947803 | KMT2D | c.900+18_900+19delinsGC c.6109+18_6109+19delinsGC (n.6109+18_6109+19delinsGC) c.6118+18_6118+19delinsGC (n.6118+18_6118+19delinsGC) c.221+18_221+19delinsGC c.6106+18_6106+19delinsGC (n.6106+18_6106+19delinsGC) c.6115+18_6115+19delinsGC (n.6115+18_6115+19delinsGC) c.6097+18_6097+19delinsGC (n.6097+18_6097+19delinsGC) n.8438+18_8438+19delinsGC n.7427+18_7427+19delinsGC | |
12 | g.49042071C>A | CA2726161241 | KMT2D | c.900+18G>T c.6109+18G>T (n.6109+18G>T) c.6118+18G>T (n.6118+18G>T) c.221+18G>T c.6106+18G>T (n.6106+18G>T) c.6115+18G>T (n.6115+18G>T) c.6097+18G>T (n.6097+18G>T) n.8438+18G>T n.7427+18G>T | dbSNP |
12 | g.49042071C>T | CA2726161240 | KMT2D | c.900+18G>A c.6109+18G>A (n.6109+18G>A) c.6118+18G>A (n.6118+18G>A) c.221+18G>A c.6106+18G>A (n.6106+18G>A) c.6115+18G>A (n.6115+18G>A) c.6097+18G>A (n.6097+18G>A) n.8438+18G>A n.7427+18G>A | dbSNP |
12 | g.49042073del | CA2034947804 | KMT2D | c.900+18del c.6109+18del (n.6109+18del) c.6118+18del (n.6118+18del) c.221+18del c.6106+18del (n.6106+18del) c.6115+18del (n.6115+18del) c.6097+18del (n.6097+18del) n.8438+18del n.7427+18del | dbSNP |
12 | g.49042073C>T | CA2573148652 | KMT2D | c.900+16G>A c.6109+16G>A (n.6109+16G>A) c.6118+16G>A (n.6118+16G>A) c.221+16G>A c.6106+16G>A (n.6106+16G>A) c.6115+16G>A (n.6115+16G>A) c.6097+16G>A (n.6097+16G>A) n.8438+16G>A n.7427+16G>A | ClinVar dbSNP gnomAD v4 |
12 | g.49042074T>C | CA2726161242 | KMT2D | c.900+15A>G c.6109+15A>G (n.6109+15A>G) c.6118+15A>G (n.6118+15A>G) c.221+15A>G c.6106+15A>G (n.6106+15A>G) c.6115+15A>G (n.6115+15A>G) c.6097+15A>G (n.6097+15A>G) n.8438+15A>G n.7427+15A>G | dbSNP |
12 | g.49042075C= | CA2034947805 | KMT2D | c.900+14G= c.6109+14G= (n.6109+14G=) c.6118+14G= (n.6118+14G=) c.221+14G= c.6106+14G= (n.6106+14G=) c.6115+14G= (n.6115+14G=) c.6097+14G= (n.6097+14G=) n.8438+14G= n.7427+14G= | |
12 | g.49042075C>T | CA6547376 | KMT2D | c.900+14G>A c.6109+14G>A (n.6109+14G>A) c.6118+14G>A (n.6118+14G>A) c.221+14G>A c.6106+14G>A (n.6106+14G>A) c.6115+14G>A (n.6115+14G>A) c.6097+14G>A (n.6097+14G>A) n.8438+14G>A n.7427+14G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042076A>G | CA2618609323 | KMT2D | c.900+13T>C c.6109+13T>C (n.6109+13T>C) c.6118+13T>C (n.6118+13T>C) c.221+13T>C c.6106+13T>C (n.6106+13T>C) c.6115+13T>C (n.6115+13T>C) c.6097+13T>C (n.6097+13T>C) n.8438+13T>C n.7427+13T>C | gnomAD v4 |
12 | g.49042078C>A | CA2726161243 | KMT2D | c.900+11G>T c.6109+11G>T (n.6109+11G>T) c.6118+11G>T (n.6118+11G>T) c.221+11G>T c.6106+11G>T (n.6106+11G>T) c.6115+11G>T (n.6115+11G>T) c.6097+11G>T (n.6097+11G>T) n.8438+11G>T n.7427+11G>T | dbSNP |
12 | g.49042082C>G | CA2580086390 | KMT2D | c.900+7G>C c.6109+7G>C (n.6109+7G>C) c.6118+7G>C (n.6118+7G>C) c.221+7G>C c.6106+7G>C (n.6106+7G>C) c.6115+7G>C (n.6115+7G>C) c.6097+7G>C (n.6097+7G>C) n.8438+7G>C n.7427+7G>C | ClinVar |
12 | g.49042083A= | CA2034947806 | KMT2D | c.900+6T= c.6109+6T= (n.6109+6T=) c.6118+6T= (n.6118+6T=) c.221+6T= c.6106+6T= (n.6106+6T=) c.6115+6T= (n.6115+6T=) c.6097+6T= (n.6097+6T=) n.8438+6T= n.7427+6T= | |
12 | g.49042083A>C | CA2034947807 | KMT2D | c.900+6T>G c.6109+6T>G (n.6109+6T>G) c.6118+6T>G (n.6118+6T>G) c.221+6T>G c.6106+6T>G (n.6106+6T>G) c.6115+6T>G (n.6115+6T>G) c.6097+6T>G (n.6097+6T>G) n.8438+6T>G n.7427+6T>G | dbSNP |
12 | g.49042083A>G | CA2726107516 | KMT2D | c.900+6T>C c.6109+6T>C (n.6109+6T>C) c.6118+6T>C (n.6118+6T>C) c.221+6T>C c.6106+6T>C (n.6106+6T>C) c.6115+6T>C (n.6115+6T>C) c.6097+6T>C (n.6097+6T>C) n.8438+6T>C n.7427+6T>C | dbSNP |
12 | g.49042085G>A | CA2726161245 | KMT2D | c.900+4C>T c.6109+4C>T (n.6109+4C>T) c.6118+4C>T (n.6118+4C>T) c.221+4C>T c.6106+4C>T (n.6106+4C>T) c.6115+4C>T (n.6115+4C>T) c.6097+4C>T (n.6097+4C>T) n.8438+4C>T n.7427+4C>T | dbSNP |
12 | g.49042085G>C | CA2726161244 | KMT2D | c.900+4C>G c.6109+4C>G (n.6109+4C>G) c.6118+4C>G (n.6118+4C>G) c.221+4C>G c.6106+4C>G (n.6106+4C>G) c.6115+4C>G (n.6115+4C>G) c.6097+4C>G (n.6097+4C>G) n.8438+4C>G n.7427+4C>G | dbSNP |
12 | g.49042086T>A | CA479511639 | KMT2D | c.900+3A>T c.6109+3A>T (n.6109+3A>T) c.6118+3A>T (n.6118+3A>T) c.221+3A>T c.6106+3A>T (n.6106+3A>T) c.6115+3A>T (n.6115+3A>T) c.6097+3A>T (n.6097+3A>T) n.8438+3A>T n.7427+3A>T | COSMIC COSMIC |
12 | g.49042087A>C | CA384626572 | KMT2D | c.900+2T>G c.6109+2T>G (n.6109+2T>G) c.6118+2T>G (n.6118+2T>G) c.221+2T>G c.6106+2T>G (n.6106+2T>G) c.6115+2T>G (n.6115+2T>G) c.6097+2T>G (n.6097+2T>G) n.8438+2T>G n.7427+2T>G | |
12 | g.49042087A>G | CA384626574 | KMT2D | c.900+2T>C c.6109+2T>C (n.6109+2T>C) c.6118+2T>C (n.6118+2T>C) c.221+2T>C c.6106+2T>C (n.6106+2T>C) c.6115+2T>C (n.6115+2T>C) c.6097+2T>C (n.6097+2T>C) n.8438+2T>C n.7427+2T>C | |
12 | g.49042087A>T | CA384626577 | KMT2D | c.900+2T>A c.6109+2T>A (n.6109+2T>A) c.6118+2T>A (n.6118+2T>A) c.221+2T>A c.6106+2T>A (n.6106+2T>A) c.6115+2T>A (n.6115+2T>A) c.6097+2T>A (n.6097+2T>A) n.8438+2T>A n.7427+2T>A | |
12 | g.49042088C>A | CA384626579 | KMT2D | c.900+1G>T c.6109+1G>T (n.6109+1G>T) c.6118+1G>T (n.6118+1G>T) c.221+1G>T c.6106+1G>T (n.6106+1G>T) c.6115+1G>T (n.6115+1G>T) c.6097+1G>T (n.6097+1G>T) n.8438+1G>T n.7427+1G>T | |
12 | g.49042088C>G | CA384626585 | KMT2D | c.900+1G>C c.6109+1G>C (n.6109+1G>C) c.6118+1G>C (n.6118+1G>C) c.221+1G>C c.6106+1G>C (n.6106+1G>C) c.6115+1G>C (n.6115+1G>C) c.6097+1G>C (n.6097+1G>C) n.8438+1G>C n.7427+1G>C | ClinVar dbSNP |
12 | g.49042088C>T | CA384626582 | KMT2D | c.900+1G>A c.6109+1G>A (n.6109+1G>A) c.6118+1G>A (n.6118+1G>A) c.221+1G>A c.6106+1G>A (n.6106+1G>A) c.6115+1G>A (n.6115+1G>A) c.6097+1G>A (n.6097+1G>A) n.8438+1G>A n.7427+1G>A | |
12 | g.49042089C>A | CA384626587 | KMT2D | c.900G>T c.6109G>T (p.Asp2037Tyr) c.6118G>T (p.Asp2040Tyr) c.221G>T c.6106G>T (p.Asp2036Tyr) c.6115G>T (p.Asp2039Tyr) c.6097G>T (p.Asp2033Tyr) n.8438G>T n.7427G>T | |
12 | g.49042089C>G | CA384626590 | KMT2D | c.900G>C c.6109G>C (p.Asp2037His) c.6118G>C (p.Asp2040His) c.221G>C c.6106G>C (p.Asp2036His) c.6115G>C (p.Asp2039His) c.6097G>C (p.Asp2033His) n.8438G>C n.7427G>C | ClinVar dbSNP |
12 | g.49042089C>T | CA384626593 | KMT2D | c.900G>A c.6109G>A (p.Asp2037Asn) c.6118G>A (p.Asp2040Asn) c.221G>A c.6106G>A (p.Asp2036Asn) c.6115G>A (p.Asp2039Asn) c.6097G>A (p.Asp2033Asn) n.8438G>A n.7427G>A | |
12 | g.49042090T>A | CA479511644 | KMT2D | c.899A>T c.6108A>T (p.Pro2036=) c.6117A>T (p.Pro2039=) c.220A>T c.6105A>T (p.Pro2035=) c.6114A>T (p.Pro2038=) c.6096A>T (p.Pro2032=) n.8437A>T n.7426A>T | |
12 | g.49042090T>C | CA479511643 | KMT2D | c.899A>G c.6108A>G (p.Pro2036=) c.6117A>G (p.Pro2039=) c.220A>G c.6105A>G (p.Pro2035=) c.6114A>G (p.Pro2038=) c.6096A>G (p.Pro2032=) n.8437A>G n.7426A>G | dbSNP |
12 | g.49042090T>G | CA479511642 | KMT2D | c.899A>C c.6108A>C (p.Pro2036=) c.6117A>C (p.Pro2039=) c.220A>C c.6105A>C (p.Pro2035=) c.6114A>C (p.Pro2038=) c.6096A>C (p.Pro2032=) n.8437A>C n.7426A>C | |
12 | g.49042091G>A | CA384626595 | KMT2D | c.898C>T c.6107C>T (p.Pro2036Leu) c.6116C>T (p.Pro2039Leu) c.219C>T c.6104C>T (p.Pro2035Leu) c.6113C>T (p.Pro2038Leu) c.6095C>T (p.Pro2032Leu) n.8436C>T n.7425C>T | dbSNP |
12 | g.49042091G>C | CA384626596 | KMT2D | c.898C>G c.6107C>G (p.Pro2036Arg) c.6116C>G (p.Pro2039Arg) c.219C>G c.6104C>G (p.Pro2035Arg) c.6113C>G (p.Pro2038Arg) c.6095C>G (p.Pro2032Arg) n.8436C>G n.7425C>G | |
12 | g.49042091G>T | CA384626598 | KMT2D | c.898C>A c.6107C>A (p.Pro2036Gln) c.6116C>A (p.Pro2039Gln) c.219C>A c.6104C>A (p.Pro2035Gln) c.6113C>A (p.Pro2038Gln) c.6095C>A (p.Pro2032Gln) n.8436C>A n.7425C>A | |
12 | g.49042093del | CA2726161246 | KMT2D | c.898del c.6107del (p.Pro2036GlnfsTer11) c.6116del (p.Pro2039GlnfsTer11) c.219del c.6104del (p.Pro2035GlnfsTer11) c.6113del (p.Pro2038GlnfsTer11) c.6095del (p.Pro2032GlnfsTer11) n.8436del n.7425del | dbSNP |
12 | g.49042092G>A | CA384626602 | KMT2D | c.897C>T c.6106C>T (p.Pro2036Ser) c.6115C>T (p.Pro2039Ser) c.218C>T c.6103C>T (p.Pro2035Ser) c.6112C>T (p.Pro2038Ser) c.6094C>T (p.Pro2032Ser) n.8435C>T n.7424C>T | |
12 | g.49042092G>C | CA384626604 | KMT2D | c.897C>G c.6106C>G (p.Pro2036Ala) c.6115C>G (p.Pro2039Ala) c.218C>G c.6103C>G (p.Pro2035Ala) c.6112C>G (p.Pro2038Ala) c.6094C>G (p.Pro2032Ala) n.8435C>G n.7424C>G | |
12 | g.49042092G>T | CA384626606 | KMT2D | c.897C>A c.6106C>A (p.Pro2036Thr) c.6115C>A (p.Pro2039Thr) c.218C>A c.6103C>A (p.Pro2035Thr) c.6112C>A (p.Pro2038Thr) c.6094C>A (p.Pro2032Thr) n.8435C>A n.7424C>A | |
12 | g.49042093G>A | CA236612482 | KMT2D | c.896C>T c.6105C>T (p.Tyr2035=) c.6114C>T (p.Tyr2038=) c.217C>T c.6102C>T (p.Tyr2034=) c.6111C>T (p.Tyr2037=) c.6093C>T (p.Tyr2031=) n.8434C>T n.7423C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042093G>C | CA384626609 | KMT2D | c.896C>G c.6105C>G (p.Tyr2035Ter) c.6114C>G (p.Tyr2038Ter) c.217C>G c.6102C>G (p.Tyr2034Ter) c.6111C>G (p.Tyr2037Ter) c.6093C>G (p.Tyr2031Ter) n.8434C>G n.7423C>G | |
12 | g.49042093G= | CA2034947808 | KMT2D | c.896C= c.6105C= (p.Tyr2035=) c.6114C= (p.Tyr2038=) c.217C= c.6102C= (p.Tyr2034=) c.6111C= (p.Tyr2037=) c.6093C= (p.Tyr2031=) n.8434C= n.7423C= | |
12 | g.49042093G>T | CA384626610 | KMT2D | c.896C>A c.6105C>A (p.Tyr2035Ter) c.6114C>A (p.Tyr2038Ter) c.217C>A c.6102C>A (p.Tyr2034Ter) c.6111C>A (p.Tyr2037Ter) c.6093C>A (p.Tyr2031Ter) n.8434C>A n.7423C>A | |
12 | g.49042094T>A | CA384626614 | KMT2D | c.895A>T c.6104A>T (p.Tyr2035Phe) c.6113A>T (p.Tyr2038Phe) c.216A>T c.6101A>T (p.Tyr2034Phe) c.6110A>T (p.Tyr2037Phe) c.6092A>T (p.Tyr2031Phe) n.8433A>T n.7422A>T | dbSNP |
12 | g.49042094T>C | CA384626618 | KMT2D | c.895A>G c.6104A>G (p.Tyr2035Cys) c.6113A>G (p.Tyr2038Cys) c.216A>G c.6101A>G (p.Tyr2034Cys) c.6110A>G (p.Tyr2037Cys) c.6092A>G (p.Tyr2031Cys) n.8433A>G n.7422A>G | |
12 | g.49042094T>G | CA384626616 | KMT2D | c.895A>C c.6104A>C (p.Tyr2035Ser) c.6113A>C (p.Tyr2038Ser) c.216A>C c.6101A>C (p.Tyr2034Ser) c.6110A>C (p.Tyr2037Ser) c.6092A>C (p.Tyr2031Ser) n.8433A>C n.7422A>C | |
12 | g.49042095A>C | CA384626620 | KMT2D | c.894T>G c.6103T>G (p.Tyr2035Asp) c.6112T>G (p.Tyr2038Asp) c.215T>G c.6100T>G (p.Tyr2034Asp) c.6109T>G (p.Tyr2037Asp) c.6091T>G (p.Tyr2031Asp) n.8432T>G n.7421T>G | |
12 | g.49042095A>G | CA384626622 | KMT2D | c.894T>C c.6103T>C (p.Tyr2035His) c.6112T>C (p.Tyr2038His) c.215T>C c.6100T>C (p.Tyr2034His) c.6109T>C (p.Tyr2037His) c.6091T>C (p.Tyr2031His) n.8432T>C n.7421T>C | gnomAD v4 |
12 | g.49042095A>T | CA384626624 | KMT2D | c.894T>A c.6103T>A (p.Tyr2035Asn) c.6112T>A (p.Tyr2038Asn) c.215T>A c.6100T>A (p.Tyr2034Asn) c.6109T>A (p.Tyr2037Asn) c.6091T>A (p.Tyr2031Asn) n.8432T>A n.7421T>A | |
12 | g.49042096G>A | CA479511651 | KMT2D | c.893C>T c.6102C>T (p.Asp2034=) c.6111C>T (p.Asp2037=) c.214C>T c.6099C>T (p.Asp2033=) c.6108C>T (p.Asp2036=) c.6090C>T (p.Asp2030=) n.8431C>T n.7420C>T | dbSNP |
12 | g.49042096G>C | CA384626626 | KMT2D | c.893C>G c.6102C>G (p.Asp2034Glu) c.6111C>G (p.Asp2037Glu) c.214C>G c.6099C>G (p.Asp2033Glu) c.6108C>G (p.Asp2036Glu) c.6090C>G (p.Asp2030Glu) n.8431C>G n.7420C>G | |
12 | g.49042096G>T | CA384626627 | KMT2D | c.893C>A c.6102C>A (p.Asp2034Glu) c.6111C>A (p.Asp2037Glu) c.214C>A c.6099C>A (p.Asp2033Glu) c.6108C>A (p.Asp2036Glu) c.6090C>A (p.Asp2030Glu) n.8431C>A n.7420C>A | |
12 | g.49042097T>A | CA384626630 | KMT2D | c.892A>T c.6101A>T (p.Asp2034Val) c.6110A>T (p.Asp2037Val) c.213A>T c.6098A>T (p.Asp2033Val) c.6107A>T (p.Asp2036Val) c.6089A>T (p.Asp2030Val) n.8430A>T n.7419A>T | |
12 | g.49042097T>C | CA384626632 | KMT2D | c.892A>G c.6101A>G (p.Asp2034Gly) c.6110A>G (p.Asp2037Gly) c.213A>G c.6098A>G (p.Asp2033Gly) c.6107A>G (p.Asp2036Gly) c.6089A>G (p.Asp2030Gly) n.8430A>G n.7419A>G | dbSNP gnomAD v4 |
12 | g.49042097T>G | CA384626634 | KMT2D | c.892A>C c.6101A>C (p.Asp2034Ala) c.6110A>C (p.Asp2037Ala) c.213A>C c.6098A>C (p.Asp2033Ala) c.6107A>C (p.Asp2036Ala) c.6089A>C (p.Asp2030Ala) n.8430A>C n.7419A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042097T= | CA2034947809 | KMT2D | c.892A= c.6101A= (p.Asp2034=) c.6110A= (p.Asp2037=) c.213A= c.6098A= (p.Asp2033=) c.6107A= (p.Asp2036=) c.6089A= (p.Asp2030=) n.8430A= n.7419A= | |
12 | g.49042098C>A | CA384626637 | KMT2D | c.891G>T c.6100G>T (p.Asp2034Tyr) c.6109G>T (p.Asp2037Tyr) c.212G>T c.6097G>T (p.Asp2033Tyr) c.6106G>T (p.Asp2036Tyr) c.6088G>T (p.Asp2030Tyr) n.8429G>T n.7418G>T | |
12 | g.49042098C>G | CA384626639 | KMT2D | c.891G>C c.6100G>C (p.Asp2034His) c.6109G>C (p.Asp2037His) c.212G>C c.6097G>C (p.Asp2033His) c.6106G>C (p.Asp2036His) c.6088G>C (p.Asp2030His) n.8429G>C n.7418G>C | dbSNP |
12 | g.49042098C>T | CA384626642 | KMT2D | c.891G>A c.6100G>A (p.Asp2034Asn) c.6109G>A (p.Asp2037Asn) c.212G>A c.6097G>A (p.Asp2033Asn) c.6106G>A (p.Asp2036Asn) c.6088G>A (p.Asp2030Asn) n.8429G>A n.7418G>A | |
12 | g.49042099T>A | CA384626645 | KMT2D | c.890A>T c.6099A>T (p.Gln2033His) c.6108A>T (p.Gln2036His) c.211A>T c.6096A>T (p.Gln2032His) c.6105A>T (p.Gln2035His) c.6087A>T (p.Gln2029His) n.8428A>T n.7417A>T | |
12 | g.49042099T>C | CA236612485 | KMT2D | c.890A>G c.6099A>G (p.Gln2033=) c.6108A>G (p.Gln2036=) c.211A>G c.6096A>G (p.Gln2032=) c.6105A>G (p.Gln2035=) c.6087A>G (p.Gln2029=) n.8428A>G n.7417A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042099T>G | CA384626647 | KMT2D | c.890A>C c.6099A>C (p.Gln2033His) c.6108A>C (p.Gln2036His) c.211A>C c.6096A>C (p.Gln2032His) c.6105A>C (p.Gln2035His) c.6087A>C (p.Gln2029His) n.8428A>C n.7417A>C | |
12 | g.49042099T= | CA2034947810 | KMT2D | c.890A= c.6099A= (p.Gln2033=) c.6108A= (p.Gln2036=) c.211A= c.6096A= (p.Gln2032=) c.6105A= (p.Gln2035=) c.6087A= (p.Gln2029=) n.8428A= n.7417A= | |
12 | g.49042100T>A | CA384626654 | KMT2D | c.889A>T c.6098A>T (p.Gln2033Leu) c.6107A>T (p.Gln2036Leu) c.210A>T c.6095A>T (p.Gln2032Leu) c.6104A>T (p.Gln2035Leu) c.6086A>T (p.Gln2029Leu) n.8427A>T n.7416A>T | |
12 | g.49042100T>C | CA384626652 | KMT2D | c.889A>G c.6098A>G (p.Gln2033Arg) c.6107A>G (p.Gln2036Arg) c.210A>G c.6095A>G (p.Gln2032Arg) c.6104A>G (p.Gln2035Arg) c.6086A>G (p.Gln2029Arg) n.8427A>G n.7416A>G | gnomAD v4 |
12 | g.49042100T>G | CA384626650 | KMT2D | c.889A>C c.6098A>C (p.Gln2033Pro) c.6107A>C (p.Gln2036Pro) c.210A>C c.6095A>C (p.Gln2032Pro) c.6104A>C (p.Gln2035Pro) c.6086A>C (p.Gln2029Pro) n.8427A>C n.7416A>C | |
12 | g.49042101G>A | CA384626658 | KMT2D | c.888C>T c.6097C>T (p.Gln2033Ter) c.6106C>T (p.Gln2036Ter) c.209C>T c.6094C>T (p.Gln2032Ter) c.6103C>T (p.Gln2035Ter) c.6085C>T (p.Gln2029Ter) n.8426C>T n.7415C>T | gnomAD v3 gnomAD v4 |
12 | g.49042101G>C | CA384626660 | KMT2D | c.888C>G c.6097C>G (p.Gln2033Glu) c.6106C>G (p.Gln2036Glu) c.209C>G c.6094C>G (p.Gln2032Glu) c.6103C>G (p.Gln2035Glu) c.6085C>G (p.Gln2029Glu) n.8426C>G n.7415C>G | |
12 | g.49042101G>T | CA384626662 | KMT2D | c.888C>A c.6097C>A (p.Gln2033Lys) c.6106C>A (p.Gln2036Lys) c.209C>A c.6094C>A (p.Gln2032Lys) c.6103C>A (p.Gln2035Lys) c.6085C>A (p.Gln2029Lys) n.8426C>A n.7415C>A | |
12 | g.49042102C>A | CA384626664 | KMT2D | c.887G>T c.6096G>T (p.Lys2032Asn) c.6105G>T (p.Lys2035Asn) c.208G>T c.6093G>T (p.Lys2031Asn) c.6102G>T (p.Lys2034Asn) c.6084G>T (p.Lys2028Asn) n.8425G>T n.7414G>T | |
12 | g.49042102C>G | CA384626666 | KMT2D | c.887G>C c.6096G>C (p.Lys2032Asn) c.6105G>C (p.Lys2035Asn) c.208G>C c.6093G>C (p.Lys2031Asn) c.6102G>C (p.Lys2034Asn) c.6084G>C (p.Lys2028Asn) n.8425G>C n.7414G>C | dbSNP |
12 | g.49042102C>T | CA479511659 | KMT2D | c.887G>A c.6096G>A (p.Lys2032=) c.6105G>A (p.Lys2035=) c.208G>A c.6093G>A (p.Lys2031=) c.6102G>A (p.Lys2034=) c.6084G>A (p.Lys2028=) n.8425G>A n.7414G>A | gnomAD v4 |
12 | g.49042103T>A | CA384626669 | KMT2D | c.886A>T c.6095A>T (p.Lys2032Met) c.6104A>T (p.Lys2035Met) c.207A>T c.6092A>T (p.Lys2031Met) c.6101A>T (p.Lys2034Met) c.6083A>T (p.Lys2028Met) n.8424A>T n.7413A>T | |
12 | g.49042103T>C | CA384626670 | KMT2D | c.886A>G c.6095A>G (p.Lys2032Arg) c.6104A>G (p.Lys2035Arg) c.207A>G c.6092A>G (p.Lys2031Arg) c.6101A>G (p.Lys2034Arg) c.6083A>G (p.Lys2028Arg) n.8424A>G n.7413A>G | |
12 | g.49042103T>G | CA384626671 | KMT2D | c.886A>C c.6095A>C (p.Lys2032Thr) c.6104A>C (p.Lys2035Thr) c.207A>C c.6092A>C (p.Lys2031Thr) c.6101A>C (p.Lys2034Thr) c.6083A>C (p.Lys2028Thr) n.8424A>C n.7413A>C | |
12 | g.49042104T>A | CA384626674 | KMT2D | c.885A>T c.6094A>T (p.Lys2032Ter) c.6103A>T (p.Lys2035Ter) c.206A>T c.6091A>T (p.Lys2031Ter) c.6100A>T (p.Lys2034Ter) c.6082A>T (p.Lys2028Ter) n.8423A>T n.7412A>T | |
12 | g.49042104T>C | CA384626675 | KMT2D | c.885A>G c.6094A>G (p.Lys2032Glu) c.6103A>G (p.Lys2035Glu) c.206A>G c.6091A>G (p.Lys2031Glu) c.6100A>G (p.Lys2034Glu) c.6082A>G (p.Lys2028Glu) n.8423A>G n.7412A>G | |
12 | g.49042104T>G | CA384626677 | KMT2D | c.885A>C c.6094A>C (p.Lys2032Gln) c.6103A>C (p.Lys2035Gln) c.206A>C c.6091A>C (p.Lys2031Gln) c.6100A>C (p.Lys2034Gln) c.6082A>C (p.Lys2028Gln) n.8423A>C n.7412A>C | gnomAD v4 |
12 | g.49042105G>A | CA479511664 | KMT2D | c.884C>T c.6093C>T (p.Leu2031=) c.6102C>T (p.Leu2034=) c.205C>T c.6090C>T (p.Leu2030=) c.6099C>T (p.Leu2033=) c.6081C>T (p.Leu2027=) n.8422C>T n.7411C>T | |
12 | g.49042105G>C | CA479511665 | KMT2D | c.884C>G c.6093C>G (p.Leu2031=) c.6102C>G (p.Leu2034=) c.205C>G c.6090C>G (p.Leu2030=) c.6099C>G (p.Leu2033=) c.6081C>G (p.Leu2027=) n.8422C>G n.7411C>G | gnomAD v4 |
12 | g.49042105G>T | CA479511667 | KMT2D | c.884C>A c.6093C>A (p.Leu2031=) c.6102C>A (p.Leu2034=) c.205C>A c.6090C>A (p.Leu2030=) c.6099C>A (p.Leu2033=) c.6081C>A (p.Leu2027=) n.8422C>A n.7411C>A | |
12 | g.49042106A>C | CA384626680 | KMT2D | c.883T>G c.6092T>G (p.Leu2031Arg) c.6101T>G (p.Leu2034Arg) c.204T>G c.6089T>G (p.Leu2030Arg) c.6098T>G (p.Leu2033Arg) c.6080T>G (p.Leu2027Arg) n.8421T>G n.7410T>G | |
12 | g.49042106A>G | CA384626682 | KMT2D | c.883T>C c.6092T>C (p.Leu2031Pro) c.6101T>C (p.Leu2034Pro) c.204T>C c.6089T>C (p.Leu2030Pro) c.6098T>C (p.Leu2033Pro) c.6080T>C (p.Leu2027Pro) n.8421T>C n.7410T>C | |
12 | g.49042106A>T | CA384626684 | KMT2D | c.883T>A c.6092T>A (p.Leu2031His) c.6101T>A (p.Leu2034His) c.204T>A c.6089T>A (p.Leu2030His) c.6098T>A (p.Leu2033His) c.6080T>A (p.Leu2027His) n.8421T>A n.7410T>A | |
12 | g.49042107G>A | CA384626690 | KMT2D | c.882C>T c.6091C>T (p.Leu2031Phe) c.6100C>T (p.Leu2034Phe) c.203C>T c.6088C>T (p.Leu2030Phe) c.6097C>T (p.Leu2033Phe) c.6079C>T (p.Leu2027Phe) n.8420C>T n.7409C>T | |
12 | g.49042107G>C | CA384626689 | KMT2D | c.882C>G c.6091C>G (p.Leu2031Val) c.6100C>G (p.Leu2034Val) c.203C>G c.6088C>G (p.Leu2030Val) c.6097C>G (p.Leu2033Val) c.6079C>G (p.Leu2027Val) n.8420C>G n.7409C>G | |
12 | g.49042107G>T | CA384626687 | KMT2D | c.882C>A c.6091C>A (p.Leu2031Ile) c.6100C>A (p.Leu2034Ile) c.203C>A c.6088C>A (p.Leu2030Ile) c.6097C>A (p.Leu2033Ile) c.6079C>A (p.Leu2027Ile) n.8420C>A n.7409C>A | |
12 | g.49042108A>C | CA384626692 | KMT2D | c.881T>G c.6090T>G (p.Asn2030Lys) c.6099T>G (p.Asn2033Lys) c.202T>G c.6087T>G (p.Asn2029Lys) c.6096T>G (p.Asn2032Lys) c.6078T>G (p.Asn2026Lys) n.8419T>G n.7408T>G | |
12 | g.49042108A>G | CA479511670 | KMT2D | c.881T>C c.6090T>C (p.Asn2030=) c.6099T>C (p.Asn2033=) c.202T>C c.6087T>C (p.Asn2029=) c.6096T>C (p.Asn2032=) c.6078T>C (p.Asn2026=) n.8419T>C n.7408T>C | |
12 | g.49042108A>T | CA384626693 | KMT2D | c.881T>A c.6090T>A (p.Asn2030Lys) c.6099T>A (p.Asn2033Lys) c.202T>A c.6087T>A (p.Asn2029Lys) c.6096T>A (p.Asn2032Lys) c.6078T>A (p.Asn2026Lys) n.8419T>A n.7408T>A | gnomAD v4 |
12 | g.49042109T>A | CA384626695 | KMT2D | c.880A>T c.6089A>T (p.Asn2030Ile) c.6098A>T (p.Asn2033Ile) c.201A>T c.6086A>T (p.Asn2029Ile) c.6095A>T (p.Asn2032Ile) c.6077A>T (p.Asn2026Ile) n.8418A>T n.7407A>T | |
12 | g.49042109T>C | CA384626697 | KMT2D | c.880A>G c.6089A>G (p.Asn2030Ser) c.6098A>G (p.Asn2033Ser) c.201A>G c.6086A>G (p.Asn2029Ser) c.6095A>G (p.Asn2032Ser) c.6077A>G (p.Asn2026Ser) n.8418A>G n.7407A>G | ClinVar dbSNP gnomAD v4 |
12 | g.49042109T>G | CA384626698 | KMT2D | c.880A>C c.6089A>C (p.Asn2030Thr) c.6098A>C (p.Asn2033Thr) c.201A>C c.6086A>C (p.Asn2029Thr) c.6095A>C (p.Asn2032Thr) c.6077A>C (p.Asn2026Thr) n.8418A>C n.7407A>C | |
12 | g.49042110T>A | CA384626700 | KMT2D | c.879A>T c.6088A>T (p.Asn2030Tyr) c.6097A>T (p.Asn2033Tyr) c.200A>T c.6085A>T (p.Asn2029Tyr) c.6094A>T (p.Asn2032Tyr) c.6076A>T (p.Asn2026Tyr) n.8417A>T n.7406A>T | |
12 | g.49042110T>C | CA384626702 | KMT2D | c.879A>G c.6088A>G (p.Asn2030Asp) c.6097A>G (p.Asn2033Asp) c.200A>G c.6085A>G (p.Asn2029Asp) c.6094A>G (p.Asn2032Asp) c.6076A>G (p.Asn2026Asp) n.8417A>G n.7406A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49042110T>G | CA6547377 | KMT2D | c.879A>C c.6088A>C (p.Asn2030His) c.6097A>C (p.Asn2033His) c.200A>C c.6085A>C (p.Asn2029His) c.6094A>C (p.Asn2032His) c.6076A>C (p.Asn2026His) n.8417A>C n.7406A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.49042110T= | CA2034947811 | KMT2D | c.879A= c.6088A= (p.Asn2030=) c.6097A= (p.Asn2033=) c.200A= c.6085A= (p.Asn2029=) c.6094A= (p.Asn2032=) c.6076A= (p.Asn2026=) n.8417A= n.7406A= | |
12 | g.49042111A= | CA2034947813 | KMT2D | c.878T= c.6087T= (p.Pro2029=) c.6096T= (p.Pro2032=) c.199T= c.6084T= (p.Pro2028=) c.6093T= (p.Pro2031=) c.6075T= (p.Pro2025=) n.8416T= n.7405T= | |
12 | g.49042111A>C | CA479511671 | KMT2D | c.878T>G c.6087T>G (p.Pro2029=) c.6096T>G (p.Pro2032=) c.199T>G c.6084T>G (p.Pro2028=) c.6093T>G (p.Pro2031=) c.6075T>G (p.Pro2025=) n.8416T>G n.7405T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042111A>G | CA479511672 | KMT2D | c.878T>C c.6087T>C (p.Pro2029=) c.6096T>C (p.Pro2032=) c.199T>C c.6084T>C (p.Pro2028=) c.6093T>C (p.Pro2031=) c.6075T>C (p.Pro2025=) n.8416T>C n.7405T>C | |
12 | g.49042111A>T | CA479511673 | KMT2D | c.878T>A c.6087T>A (p.Pro2029=) c.6096T>A (p.Pro2032=) c.199T>A c.6084T>A (p.Pro2028=) c.6093T>A (p.Pro2031=) c.6075T>A (p.Pro2025=) n.8416T>A n.7405T>A | |
12 | g.49042111_49042112delinsAG | CA2034947812 | KMT2D | c.877_878delinsCT c.6086_6087delinsCT (p.Pro2029=) c.6095_6096delinsCT (p.Pro2032=) c.198_199delinsCT c.6083_6084delinsCT (p.Pro2028=) c.6092_6093delinsCT (p.Pro2031=) c.6074_6075delinsCT (p.Pro2025=) n.8415_8416delinsCT n.7404_7405delinsCT | |
12 | g.49042112G>A | CA384626704 | KMT2D | c.877C>T c.6086C>T (p.Pro2029Leu) c.6095C>T (p.Pro2032Leu) c.198C>T c.6083C>T (p.Pro2028Leu) c.6092C>T (p.Pro2031Leu) c.6074C>T (p.Pro2025Leu) n.8415C>T n.7404C>T | dbSNP gnomAD v4 |
12 | g.49042112G>C | CA384626706 | KMT2D | c.877C>G c.6086C>G (p.Pro2029Arg) c.6095C>G (p.Pro2032Arg) c.198C>G c.6083C>G (p.Pro2028Arg) c.6092C>G (p.Pro2031Arg) c.6074C>G (p.Pro2025Arg) n.8415C>G n.7404C>G | |
12 | g.49042112G>T | CA384626708 | KMT2D | c.877C>A c.6086C>A (p.Pro2029His) c.6095C>A (p.Pro2032His) c.198C>A c.6083C>A (p.Pro2028His) c.6092C>A (p.Pro2031His) c.6074C>A (p.Pro2025His) n.8415C>A n.7404C>A | |
12 | g.49042113del | CA271647 | KMT2D | c.877del c.6086del (p.Pro2029LeufsTer18) c.6095del (p.Pro2032LeufsTer18) c.198del c.6083del (p.Pro2028LeufsTer18) c.6092del (p.Pro2031LeufsTer18) c.6074del (p.Pro2025LeufsTer18) n.8415del n.7404del | ClinVar dbSNP |
12 | g.49042114_49042127del | CA2499221716 | KMT2D | c.864_877del c.6073_6086del (p.Asn2025Ter) c.6082_6095del (p.Asn2028Ter) c.185_198del c.6070_6083del (p.Asn2024Ter) c.6079_6092del (p.Asn2027Ter) c.6061_6074del (p.Asn2021Ter) n.8402_8415del n.7391_7404del | ClinVar dbSNP |
12 | g.49042113G>A | CA384626712 | KMT2D | c.876C>T c.6085C>T (p.Pro2029Ser) c.6094C>T (p.Pro2032Ser) c.197C>T c.6082C>T (p.Pro2028Ser) c.6091C>T (p.Pro2031Ser) c.6073C>T (p.Pro2025Ser) n.8414C>T n.7403C>T | ClinVar dbSNP COSMIC COSMIC |
12 | g.49042113G>C | CA384626710 | KMT2D | c.876C>G c.6085C>G (p.Pro2029Ala) c.6094C>G (p.Pro2032Ala) c.197C>G c.6082C>G (p.Pro2028Ala) c.6091C>G (p.Pro2031Ala) c.6073C>G (p.Pro2025Ala) n.8414C>G n.7403C>G | |
12 | g.49042113G>T | CA384626709 | KMT2D | c.876C>A c.6085C>A (p.Pro2029Thr) c.6094C>A (p.Pro2032Thr) c.197C>A c.6082C>A (p.Pro2028Thr) c.6091C>A (p.Pro2031Thr) c.6073C>A (p.Pro2025Thr) n.8414C>A n.7403C>A | |
12 | g.49042114A>C | CA384626713 | KMT2D | c.875T>G c.6084T>G (p.Phe2028Leu) c.6093T>G (p.Phe2031Leu) c.196T>G c.6081T>G (p.Phe2027Leu) c.6090T>G (p.Phe2030Leu) c.6072T>G (p.Phe2024Leu) n.8413T>G n.7402T>G | |
12 | g.49042114A>G | CA479511675 | KMT2D | c.875T>C c.6084T>C (p.Phe2028=) c.6093T>C (p.Phe2031=) c.196T>C c.6081T>C (p.Phe2027=) c.6090T>C (p.Phe2030=) c.6072T>C (p.Phe2024=) n.8413T>C n.7402T>C | |
12 | g.49042114A>T | CA384626715 | KMT2D | c.875T>A c.6084T>A (p.Phe2028Leu) c.6093T>A (p.Phe2031Leu) c.196T>A c.6081T>A (p.Phe2027Leu) c.6090T>A (p.Phe2030Leu) c.6072T>A (p.Phe2024Leu) n.8413T>A n.7402T>A | |
12 | g.49042115A>C | CA384626717 | KMT2D | c.874T>G c.6083T>G (p.Phe2028Cys) c.6092T>G (p.Phe2031Cys) c.195T>G c.6080T>G (p.Phe2027Cys) c.6089T>G (p.Phe2030Cys) c.6071T>G (p.Phe2024Cys) n.8412T>G n.7401T>G | |
12 | g.49042115A>G | CA384626719 | KMT2D | c.874T>C c.6083T>C (p.Phe2028Ser) c.6092T>C (p.Phe2031Ser) c.195T>C c.6080T>C (p.Phe2027Ser) c.6089T>C (p.Phe2030Ser) c.6071T>C (p.Phe2024Ser) n.8412T>C n.7401T>C | |
12 | g.49042115A>T | CA384626721 | KMT2D | c.874T>A c.6083T>A (p.Phe2028Tyr) c.6092T>A (p.Phe2031Tyr) c.195T>A c.6080T>A (p.Phe2027Tyr) c.6089T>A (p.Phe2030Tyr) c.6071T>A (p.Phe2024Tyr) n.8412T>A n.7401T>A | |
12 | g.49042116A>C | CA384626722 | KMT2D | c.873T>G c.6082T>G (p.Phe2028Val) c.6091T>G (p.Phe2031Val) c.194T>G c.6079T>G (p.Phe2027Val) c.6088T>G (p.Phe2030Val) c.6070T>G (p.Phe2024Val) n.8411T>G n.7400T>G | |
12 | g.49042116A>G | CA384626723 | KMT2D | c.873T>C c.6082T>C (p.Phe2028Leu) c.6091T>C (p.Phe2031Leu) c.194T>C c.6079T>C (p.Phe2027Leu) c.6088T>C (p.Phe2030Leu) c.6070T>C (p.Phe2024Leu) n.8411T>C n.7400T>C | |
12 | g.49042116A>T | CA384626725 | KMT2D | c.873T>A c.6082T>A (p.Phe2028Ile) c.6091T>A (p.Phe2031Ile) c.194T>A c.6079T>A (p.Phe2027Ile) c.6088T>A (p.Phe2030Ile) c.6070T>A (p.Phe2024Ile) n.8411T>A n.7400T>A | |
12 | g.49042117A>C | CA384626727 | KMT2D | c.872T>G c.6081T>G (p.Asn2027Lys) c.6090T>G (p.Asn2030Lys) c.193T>G c.6078T>G (p.Asn2026Lys) c.6087T>G (p.Asn2029Lys) c.6069T>G (p.Asn2023Lys) n.8410T>G n.7399T>G | |
12 | g.49042117A>G | CA479511677 | KMT2D | c.872T>C c.6081T>C (p.Asn2027=) c.6090T>C (p.Asn2030=) c.193T>C c.6078T>C (p.Asn2026=) c.6087T>C (p.Asn2029=) c.6069T>C (p.Asn2023=) n.8410T>C n.7399T>C | |
12 | g.49042117A>T | CA384626729 | KMT2D | c.872T>A c.6081T>A (p.Asn2027Lys) c.6090T>A (p.Asn2030Lys) c.193T>A c.6078T>A (p.Asn2026Lys) c.6087T>A (p.Asn2029Lys) c.6069T>A (p.Asn2023Lys) n.8410T>A n.7399T>A | |
12 | g.49042118T>A | CA384626731 | KMT2D | c.871A>T c.6080A>T (p.Asn2027Ile) c.6089A>T (p.Asn2030Ile) c.192A>T c.6077A>T (p.Asn2026Ile) c.6086A>T (p.Asn2029Ile) c.6068A>T (p.Asn2023Ile) n.8409A>T n.7398A>T | |
12 | g.49042118T>C | CA384626733 | KMT2D | c.871A>G c.6080A>G (p.Asn2027Ser) c.6089A>G (p.Asn2030Ser) c.192A>G c.6077A>G (p.Asn2026Ser) c.6086A>G (p.Asn2029Ser) c.6068A>G (p.Asn2023Ser) n.8409A>G n.7398A>G | gnomAD v4 |
12 | g.49042118T>G | CA384626735 | KMT2D | c.871A>C c.6080A>C (p.Asn2027Thr) c.6089A>C (p.Asn2030Thr) c.192A>C c.6077A>C (p.Asn2026Thr) c.6086A>C (p.Asn2029Thr) c.6068A>C (p.Asn2023Thr) n.8409A>C n.7398A>C | |
12 | g.49042119T>A | CA384626738 | KMT2D | c.870A>T c.6079A>T (p.Asn2027Tyr) c.6088A>T (p.Asn2030Tyr) c.191A>T c.6076A>T (p.Asn2026Tyr) c.6085A>T (p.Asn2029Tyr) c.6067A>T (p.Asn2023Tyr) n.8408A>T n.7397A>T | |
12 | g.49042119T>C | CA384626739 | KMT2D | c.870A>G c.6079A>G (p.Asn2027Asp) c.6088A>G (p.Asn2030Asp) c.191A>G c.6076A>G (p.Asn2026Asp) c.6085A>G (p.Asn2029Asp) c.6067A>G (p.Asn2023Asp) n.8408A>G n.7397A>G | |
12 | g.49042119T>G | CA384626736 | KMT2D | c.870A>C c.6079A>C (p.Asn2027His) c.6088A>C (p.Asn2030His) c.191A>C c.6076A>C (p.Asn2026His) c.6085A>C (p.Asn2029His) c.6067A>C (p.Asn2023His) n.8408A>C n.7397A>C | |
12 | g.49042120A= | CA2034947816 | KMT2D | c.869T= c.6078T= (p.Ile2026=) c.6087T= (p.Ile2029=) c.190T= c.6075T= (p.Ile2025=) c.6084T= (p.Ile2028=) c.6066T= (p.Ile2022=) n.8407T= n.7396T= | |
12 | g.49042120A>C | CA384626741 | KMT2D | c.869T>G c.6078T>G (p.Ile2026Met) c.6087T>G (p.Ile2029Met) c.190T>G c.6075T>G (p.Ile2025Met) c.6084T>G (p.Ile2028Met) c.6066T>G (p.Ile2022Met) n.8407T>G n.7396T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042120A>G | CA479511682 | KMT2D | c.869T>C c.6078T>C (p.Ile2026=) c.6087T>C (p.Ile2029=) c.190T>C c.6075T>C (p.Ile2025=) c.6084T>C (p.Ile2028=) c.6066T>C (p.Ile2022=) n.8407T>C n.7396T>C | |
12 | g.49042120A>T | CA479511681 | KMT2D | c.869T>A c.6078T>A (p.Ile2026=) c.6087T>A (p.Ile2029=) c.190T>A c.6075T>A (p.Ile2025=) c.6084T>A (p.Ile2028=) c.6066T>A (p.Ile2022=) n.8407T>A n.7396T>A | gnomAD v4 |
12 | g.49042121A>C | CA384626745 | KMT2D | c.868T>G c.6077T>G (p.Ile2026Ser) c.6086T>G (p.Ile2029Ser) c.189T>G c.6074T>G (p.Ile2025Ser) c.6083T>G (p.Ile2028Ser) c.6065T>G (p.Ile2022Ser) n.8406T>G n.7395T>G | |
12 | g.49042121A>G | CA384626742 | KMT2D | c.868T>C c.6077T>C (p.Ile2026Thr) c.6086T>C (p.Ile2029Thr) c.189T>C c.6074T>C (p.Ile2025Thr) c.6083T>C (p.Ile2028Thr) c.6065T>C (p.Ile2022Thr) n.8406T>C n.7395T>C | |
12 | g.49042121A>T | CA384626743 | KMT2D | c.868T>A c.6077T>A (p.Ile2026Asn) c.6086T>A (p.Ile2029Asn) c.189T>A c.6074T>A (p.Ile2025Asn) c.6083T>A (p.Ile2028Asn) c.6065T>A (p.Ile2022Asn) n.8406T>A n.7395T>A | |
12 | g.49042122T>A | CA384626746 | KMT2D | c.867A>T c.6076A>T (p.Ile2026Phe) c.6085A>T (p.Ile2029Phe) c.188A>T c.6073A>T (p.Ile2025Phe) c.6082A>T (p.Ile2028Phe) c.6064A>T (p.Ile2022Phe) n.8405A>T n.7394A>T | |
12 | g.49042122T>C | CA6547378 | KMT2D | c.867A>G c.6076A>G (p.Ile2026Val) c.6085A>G (p.Ile2029Val) c.188A>G c.6073A>G (p.Ile2025Val) c.6082A>G (p.Ile2028Val) c.6064A>G (p.Ile2022Val) n.8405A>G n.7394A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042122T>G | CA384626749 | KMT2D | c.867A>C c.6076A>C (p.Ile2026Leu) c.6085A>C (p.Ile2029Leu) c.188A>C c.6073A>C (p.Ile2025Leu) c.6082A>C (p.Ile2028Leu) c.6064A>C (p.Ile2022Leu) n.8405A>C n.7394A>C | gnomAD v4 |
12 | g.49042122T= | CA2034947820 | KMT2D | c.867A= c.6076A= (p.Ile2026=) c.6085A= (p.Ile2029=) c.188A= c.6073A= (p.Ile2025=) c.6082A= (p.Ile2028=) c.6064A= (p.Ile2022=) n.8405A= n.7394A= | |
12 | g.49042123G>A | CA479511686 | KMT2D | c.866C>T c.6075C>T (p.Asn2025=) c.6084C>T (p.Asn2028=) c.187C>T c.6072C>T (p.Asn2024=) c.6081C>T (p.Asn2027=) c.6063C>T (p.Asn2021=) n.8404C>T n.7393C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042123G>C | CA384626750 | KMT2D | c.866C>G c.6075C>G (p.Asn2025Lys) c.6084C>G (p.Asn2028Lys) c.187C>G c.6072C>G (p.Asn2024Lys) c.6081C>G (p.Asn2027Lys) c.6063C>G (p.Asn2021Lys) n.8404C>G n.7393C>G | |
12 | g.49042123G= | CA2034947822 | KMT2D | c.866C= c.6075C= (p.Asn2025=) c.6084C= (p.Asn2028=) c.187C= c.6072C= (p.Asn2024=) c.6081C= (p.Asn2027=) c.6063C= (p.Asn2021=) n.8404C= n.7393C= | |
12 | g.49042123G>T | CA384626752 | KMT2D | c.866C>A c.6075C>A (p.Asn2025Lys) c.6084C>A (p.Asn2028Lys) c.187C>A c.6072C>A (p.Asn2024Lys) c.6081C>A (p.Asn2027Lys) c.6063C>A (p.Asn2021Lys) n.8404C>A n.7393C>A | |
12 | g.49042124T>A | CA6547379 | KMT2D | c.865A>T c.6074A>T (p.Asn2025Ile) c.6083A>T (p.Asn2028Ile) c.186A>T c.6071A>T (p.Asn2024Ile) c.6080A>T (p.Asn2027Ile) c.6062A>T (p.Asn2021Ile) n.8403A>T n.7392A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042124T>C | CA384626756 | KMT2D | c.865A>G c.6074A>G (p.Asn2025Ser) c.6083A>G (p.Asn2028Ser) c.186A>G c.6071A>G (p.Asn2024Ser) c.6080A>G (p.Asn2027Ser) c.6062A>G (p.Asn2021Ser) n.8403A>G n.7392A>G | |
12 | g.49042124T>G | CA384626758 | KMT2D | c.865A>C c.6074A>C (p.Asn2025Thr) c.6083A>C (p.Asn2028Thr) c.186A>C c.6071A>C (p.Asn2024Thr) c.6080A>C (p.Asn2027Thr) c.6062A>C (p.Asn2021Thr) n.8403A>C n.7392A>C | |
12 | g.49042124T= | CA2034947823 | KMT2D | c.865A= c.6074A= (p.Asn2025=) c.6083A= (p.Asn2028=) c.186A= c.6071A= (p.Asn2024=) c.6080A= (p.Asn2027=) c.6062A= (p.Asn2021=) n.8403A= n.7392A= | |
12 | g.49042125T>A | CA384626760 | KMT2D | c.864A>T c.6073A>T (p.Asn2025Tyr) c.6082A>T (p.Asn2028Tyr) c.185A>T c.6070A>T (p.Asn2024Tyr) c.6079A>T (p.Asn2027Tyr) c.6061A>T (p.Asn2021Tyr) n.8402A>T n.7391A>T | |
12 | g.49042125T>C | CA6547380 | KMT2D | c.864A>G c.6073A>G (p.Asn2025Asp) c.6082A>G (p.Asn2028Asp) c.185A>G c.6070A>G (p.Asn2024Asp) c.6079A>G (p.Asn2027Asp) c.6061A>G (p.Asn2021Asp) n.8402A>G n.7391A>G | dbSNP ExAC gnomAD v2 |
12 | g.49042125T>G | CA384626761 | KMT2D | c.864A>C c.6073A>C (p.Asn2025His) c.6082A>C (p.Asn2028His) c.185A>C c.6070A>C (p.Asn2024His) c.6079A>C (p.Asn2027His) c.6061A>C (p.Asn2021His) n.8402A>C n.7391A>C | |
12 | g.49042125T= | CA2034947824 | KMT2D | c.864A= c.6073A= (p.Asn2025=) c.6082A= (p.Asn2028=) c.185A= c.6070A= (p.Asn2024=) c.6079A= (p.Asn2027=) c.6061A= (p.Asn2021=) n.8402A= n.7391A= | |
12 | g.49042126G>A | CA479511689 | KMT2D | c.863C>T c.6072C>T (p.Ala2024=) c.6081C>T (p.Ala2027=) c.184C>T c.6069C>T (p.Ala2023=) c.6078C>T (p.Ala2026=) c.6060C>T (p.Ala2020=) n.8401C>T n.7390C>T | |
12 | g.49042126G>C | CA479511690 | KMT2D | c.863C>G c.6072C>G (p.Ala2024=) c.6081C>G (p.Ala2027=) c.184C>G c.6069C>G (p.Ala2023=) c.6078C>G (p.Ala2026=) c.6060C>G (p.Ala2020=) n.8401C>G n.7390C>G | |
12 | g.49042126G>T | CA479511691 | KMT2D | c.863C>A c.6072C>A (p.Ala2024=) c.6081C>A (p.Ala2027=) c.184C>A c.6069C>A (p.Ala2023=) c.6078C>A (p.Ala2026=) c.6060C>A (p.Ala2020=) n.8401C>A n.7390C>A | dbSNP |
12 | g.49042127G>A | CA384626764 | KMT2D | c.862C>T c.6071C>T (p.Ala2024Val) c.6080C>T (p.Ala2027Val) c.183C>T c.6068C>T (p.Ala2023Val) c.6077C>T (p.Ala2026Val) c.6059C>T (p.Ala2020Val) n.8400C>T n.7389C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042127G>C | CA384626767 | KMT2D | c.862C>G c.6071C>G (p.Ala2024Gly) c.6080C>G (p.Ala2027Gly) c.183C>G c.6068C>G (p.Ala2023Gly) c.6077C>G (p.Ala2026Gly) c.6059C>G (p.Ala2020Gly) n.8400C>G n.7389C>G | |
12 | g.49042127G= | CA2034947825 | KMT2D | c.862C= c.6071C= (p.Ala2024=) c.6080C= (p.Ala2027=) c.183C= c.6068C= (p.Ala2023=) c.6077C= (p.Ala2026=) c.6059C= (p.Ala2020=) n.8400C= n.7389C= | |
12 | g.49042127G>T | CA384626766 | KMT2D | c.862C>A c.6071C>A (p.Ala2024Asp) c.6080C>A (p.Ala2027Asp) c.183C>A c.6068C>A (p.Ala2023Asp) c.6077C>A (p.Ala2026Asp) c.6059C>A (p.Ala2020Asp) n.8400C>A n.7389C>A | |
12 | g.49042128C>A | CA384626769 | KMT2D | c.861G>T c.6070G>T (p.Ala2024Ser) c.6079G>T (p.Ala2027Ser) c.182G>T c.6067G>T (p.Ala2023Ser) c.6076G>T (p.Ala2026Ser) c.6058G>T (p.Ala2020Ser) n.8399G>T n.7388G>T | |
12 | g.49042128C>G | CA384626771 | KMT2D | c.861G>C c.6070G>C (p.Ala2024Pro) c.6079G>C (p.Ala2027Pro) c.182G>C c.6067G>C (p.Ala2023Pro) c.6076G>C (p.Ala2026Pro) c.6058G>C (p.Ala2020Pro) n.8399G>C n.7388G>C | dbSNP |
12 | g.49042128C>T | CA384626772 | KMT2D | c.861G>A c.6070G>A (p.Ala2024Thr) c.6079G>A (p.Ala2027Thr) c.182G>A c.6067G>A (p.Ala2023Thr) c.6076G>A (p.Ala2026Thr) c.6058G>A (p.Ala2020Thr) n.8399G>A n.7388G>A | dbSNP COSMIC COSMIC |
12 | g.49042129A>C | CA384626773 | KMT2D | c.860T>G c.6069T>G (p.Tyr2023Ter) c.6078T>G (p.Tyr2026Ter) c.181T>G c.6066T>G (p.Tyr2022Ter) c.6075T>G (p.Tyr2025Ter) c.6057T>G (p.Tyr2019Ter) n.8398T>G n.7387T>G | |
12 | g.49042129A>G | CA479511692 | KMT2D | c.860T>C c.6069T>C (p.Tyr2023=) c.6078T>C (p.Tyr2026=) c.181T>C c.6066T>C (p.Tyr2022=) c.6075T>C (p.Tyr2025=) c.6057T>C (p.Tyr2019=) n.8398T>C n.7387T>C | ClinVar gnomAD v4 |
12 | g.49042129A>T | CA384626775 | KMT2D | c.860T>A c.6069T>A (p.Tyr2023Ter) c.6078T>A (p.Tyr2026Ter) c.181T>A c.6066T>A (p.Tyr2022Ter) c.6075T>A (p.Tyr2025Ter) c.6057T>A (p.Tyr2019Ter) n.8398T>A n.7387T>A | |
12 | g.49042130T>A | CA384626778 | KMT2D | c.859A>T c.6068A>T (p.Tyr2023Phe) c.6077A>T (p.Tyr2026Phe) c.180A>T c.6065A>T (p.Tyr2022Phe) c.6074A>T (p.Tyr2025Phe) c.6056A>T (p.Tyr2019Phe) n.8397A>T n.7386A>T | |
12 | g.49042130T>C | CA384626779 | KMT2D | c.859A>G c.6068A>G (p.Tyr2023Cys) c.6077A>G (p.Tyr2026Cys) c.180A>G c.6065A>G (p.Tyr2022Cys) c.6074A>G (p.Tyr2025Cys) c.6056A>G (p.Tyr2019Cys) n.8397A>G n.7386A>G | dbSNP |
12 | g.49042130T>G | CA384626781 | KMT2D | c.859A>C c.6068A>C (p.Tyr2023Ser) c.6077A>C (p.Tyr2026Ser) c.180A>C c.6065A>C (p.Tyr2022Ser) c.6074A>C (p.Tyr2025Ser) c.6056A>C (p.Tyr2019Ser) n.8397A>C n.7386A>C | gnomAD v4 |
12 | g.49042130T= | CA2034947826 | KMT2D | c.859A= c.6068A= (p.Tyr2023=) c.6077A= (p.Tyr2026=) c.180A= c.6065A= (p.Tyr2022=) c.6074A= (p.Tyr2025=) c.6056A= (p.Tyr2019=) n.8397A= n.7386A= | |
12 | g.49042131A>C | CA384626783 | KMT2D | c.858T>G c.6067T>G (p.Tyr2023Asp) c.6076T>G (p.Tyr2026Asp) c.179T>G c.6064T>G (p.Tyr2022Asp) c.6073T>G (p.Tyr2025Asp) c.6055T>G (p.Tyr2019Asp) n.8396T>G n.7385T>G | |
12 | g.49042131A>G | CA384626785 | KMT2D | c.858T>C c.6067T>C (p.Tyr2023His) c.6076T>C (p.Tyr2026His) c.179T>C c.6064T>C (p.Tyr2022His) c.6073T>C (p.Tyr2025His) c.6055T>C (p.Tyr2019His) n.8396T>C n.7385T>C | |
12 | g.49042131A>T | CA384626786 | KMT2D | c.858T>A c.6067T>A (p.Tyr2023Asn) c.6076T>A (p.Tyr2026Asn) c.179T>A c.6064T>A (p.Tyr2022Asn) c.6073T>A (p.Tyr2025Asn) c.6055T>A (p.Tyr2019Asn) n.8396T>A n.7385T>A | |
12 | g.49042132G>A | CA6547381 | KMT2D | c.857C>T c.6066C>T (p.Leu2022=) c.6075C>T (p.Leu2025=) c.178C>T c.6063C>T (p.Leu2021=) c.6072C>T (p.Leu2024=) c.6054C>T (p.Leu2018=) n.8395C>T n.7384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49042132G>C | CA479511694 | KMT2D | c.857C>G c.6066C>G (p.Leu2022=) c.6075C>G (p.Leu2025=) c.178C>G c.6063C>G (p.Leu2021=) c.6072C>G (p.Leu2024=) c.6054C>G (p.Leu2018=) n.8395C>G n.7384C>G | gnomAD v4 |
12 | g.49042132G= | CA2034947827 | KMT2D | c.857C= c.6066C= (p.Leu2022=) c.6075C= (p.Leu2025=) c.178C= c.6063C= (p.Leu2021=) c.6072C= (p.Leu2024=) c.6054C= (p.Leu2018=) n.8395C= n.7384C= | |
12 | g.49042132G>T | CA479511695 | KMT2D | c.857C>A c.6066C>A (p.Leu2022=) c.6075C>A (p.Leu2025=) c.178C>A c.6063C>A (p.Leu2021=) c.6072C>A (p.Leu2024=) c.6054C>A (p.Leu2018=) n.8395C>A n.7384C>A | |
12 | g.49042133A>C | CA384626789 | KMT2D | c.856T>G c.6065T>G (p.Leu2022Arg) c.6074T>G (p.Leu2025Arg) c.177T>G c.6062T>G (p.Leu2021Arg) c.6071T>G (p.Leu2024Arg) c.6053T>G (p.Leu2018Arg) n.8394T>G n.7383T>G | |
12 | g.49042133A>G | CA384626787 | KMT2D | c.856T>C c.6065T>C (p.Leu2022Pro) c.6074T>C (p.Leu2025Pro) c.177T>C c.6062T>C (p.Leu2021Pro) c.6071T>C (p.Leu2024Pro) c.6053T>C (p.Leu2018Pro) n.8394T>C n.7383T>C | |
12 | g.49042133A>T | CA384626788 | KMT2D | c.856T>A c.6065T>A (p.Leu2022His) c.6074T>A (p.Leu2025His) c.177T>A c.6062T>A (p.Leu2021His) c.6071T>A (p.Leu2024His) c.6053T>A (p.Leu2018His) n.8394T>A n.7383T>A | |
12 | g.49042134G>A | CA384626791 | KMT2D | c.855C>T c.6064C>T (p.Leu2022Phe) c.6073C>T (p.Leu2025Phe) c.176C>T c.6061C>T (p.Leu2021Phe) c.6070C>T (p.Leu2024Phe) c.6052C>T (p.Leu2018Phe) n.8393C>T n.7382C>T | dbSNP |
12 | g.49042134G>C | CA384626793 | KMT2D | c.855C>G c.6064C>G (p.Leu2022Val) c.6073C>G (p.Leu2025Val) c.176C>G c.6061C>G (p.Leu2021Val) c.6070C>G (p.Leu2024Val) c.6052C>G (p.Leu2018Val) n.8393C>G n.7382C>G | |
12 | g.49042134G>T | CA384626795 | KMT2D | c.855C>A c.6064C>A (p.Leu2022Ile) c.6073C>A (p.Leu2025Ile) c.176C>A c.6061C>A (p.Leu2021Ile) c.6070C>A (p.Leu2024Ile) c.6052C>A (p.Leu2018Ile) n.8393C>A n.7382C>A | |
12 | g.49042135C>A | CA479511697 | KMT2D | c.854G>T c.6063G>T (p.Val2021=) c.6072G>T (p.Val2024=) c.175G>T c.6060G>T (p.Val2020=) c.6069G>T (p.Val2023=) c.6051G>T (p.Val2017=) n.8392G>T n.7381G>T | |
12 | g.49042135C>G | CA479511699 | KMT2D | c.854G>C c.6063G>C (p.Val2021=) c.6072G>C (p.Val2024=) c.175G>C c.6060G>C (p.Val2020=) c.6069G>C (p.Val2023=) c.6051G>C (p.Val2017=) n.8392G>C n.7381G>C | |
12 | g.49042135C>T | CA479511701 | KMT2D | c.854G>A c.6063G>A (p.Val2021=) c.6072G>A (p.Val2024=) c.175G>A c.6060G>A (p.Val2020=) c.6069G>A (p.Val2023=) c.6051G>A (p.Val2017=) n.8392G>A n.7381G>A | |
12 | g.49042136A>C | CA384626799 | KMT2D | c.853T>G c.6062T>G (p.Val2021Gly) c.6071T>G (p.Val2024Gly) c.174T>G c.6059T>G (p.Val2020Gly) c.6068T>G (p.Val2023Gly) c.6050T>G (p.Val2017Gly) n.8391T>G n.7380T>G | |
12 | g.49042136A>G | CA384626797 | KMT2D | c.853T>C c.6062T>C (p.Val2021Ala) c.6071T>C (p.Val2024Ala) c.174T>C c.6059T>C (p.Val2020Ala) c.6068T>C (p.Val2023Ala) c.6050T>C (p.Val2017Ala) n.8391T>C n.7380T>C | |
12 | g.49042136A>T | CA384626796 | KMT2D | c.853T>A c.6062T>A (p.Val2021Glu) c.6071T>A (p.Val2024Glu) c.174T>A c.6059T>A (p.Val2020Glu) c.6068T>A (p.Val2023Glu) c.6050T>A (p.Val2017Glu) n.8391T>A n.7380T>A | |
12 | g.49042137C>A | CA384626801 | KMT2D | c.852G>T c.6061G>T (p.Val2021Leu) c.6070G>T (p.Val2024Leu) c.173G>T c.6058G>T (p.Val2020Leu) c.6067G>T (p.Val2023Leu) c.6049G>T (p.Val2017Leu) n.8390G>T n.7379G>T | |
12 | g.49042137C= | CA2034947828 | KMT2D | c.852G= c.6061G= (p.Val2021=) c.6070G= (p.Val2024=) c.173G= c.6058G= (p.Val2020=) c.6067G= (p.Val2023=) c.6049G= (p.Val2017=) n.8390G= n.7379G= | |
12 | g.49042137C>G | CA384626802 | KMT2D | c.852G>C c.6061G>C (p.Val2021Leu) c.6070G>C (p.Val2024Leu) c.173G>C c.6058G>C (p.Val2020Leu) c.6067G>C (p.Val2023Leu) c.6049G>C (p.Val2017Leu) n.8390G>C n.7379G>C | dbSNP |
12 | g.49042137C>T | CA384626804 | KMT2D | c.852G>A c.6061G>A (p.Val2021Met) c.6070G>A (p.Val2024Met) c.173G>A c.6058G>A (p.Val2020Met) c.6067G>A (p.Val2023Met) c.6049G>A (p.Val2017Met) n.8390G>A n.7379G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042138A>C | CA479511704 | KMT2D | c.851T>G c.6060T>G (p.Pro2020=) c.6069T>G (p.Pro2023=) c.172T>G c.6057T>G (p.Pro2019=) c.6066T>G (p.Pro2022=) c.6048T>G (p.Pro2016=) n.8389T>G n.7378T>G | |
12 | g.49042138A>G | CA479511707 | KMT2D | c.851T>C c.6060T>C (p.Pro2020=) c.6069T>C (p.Pro2023=) c.172T>C c.6057T>C (p.Pro2019=) c.6066T>C (p.Pro2022=) c.6048T>C (p.Pro2016=) n.8389T>C n.7378T>C | dbSNP |
12 | g.49042138A>T | CA479511708 | KMT2D | c.851T>A c.6060T>A (p.Pro2020=) c.6069T>A (p.Pro2023=) c.172T>A c.6057T>A (p.Pro2019=) c.6066T>A (p.Pro2022=) c.6048T>A (p.Pro2016=) n.8389T>A n.7378T>A | |
12 | g.49042139G>A | CA384626806 | KMT2D | c.850C>T c.6059C>T (p.Pro2020Leu) c.6068C>T (p.Pro2023Leu) c.171C>T c.6056C>T (p.Pro2019Leu) c.6065C>T (p.Pro2022Leu) c.6047C>T (p.Pro2016Leu) n.8388C>T n.7377C>T | dbSNP |
12 | g.49042139G>C | CA384626807 | KMT2D | c.850C>G c.6059C>G (p.Pro2020Arg) c.6068C>G (p.Pro2023Arg) c.171C>G c.6056C>G (p.Pro2019Arg) c.6065C>G (p.Pro2022Arg) c.6047C>G (p.Pro2016Arg) n.8388C>G n.7377C>G | |
12 | g.49042139G>T | CA384626809 | KMT2D | c.850C>A c.6059C>A (p.Pro2020His) c.6068C>A (p.Pro2023His) c.171C>A c.6056C>A (p.Pro2019His) c.6065C>A (p.Pro2022His) c.6047C>A (p.Pro2016His) n.8388C>A n.7377C>A | |
12 | g.49042140G>A | CA236612494 | KMT2D | c.849C>T c.6058C>T (p.Pro2020Ser) c.6067C>T (p.Pro2023Ser) c.170C>T c.6055C>T (p.Pro2019Ser) c.6064C>T (p.Pro2022Ser) c.6046C>T (p.Pro2016Ser) n.8387C>T n.7376C>T | ClinVar dbSNP |
12 | g.49042140G>C | CA384626814 | KMT2D | c.849C>G c.6058C>G (p.Pro2020Ala) c.6067C>G (p.Pro2023Ala) c.170C>G c.6055C>G (p.Pro2019Ala) c.6064C>G (p.Pro2022Ala) c.6046C>G (p.Pro2016Ala) n.8387C>G n.7376C>G | |
12 | g.49042140G= | CA2034947829 | KMT2D | c.849C= c.6058C= (p.Pro2020=) c.6067C= (p.Pro2023=) c.170C= c.6055C= (p.Pro2019=) c.6064C= (p.Pro2022=) c.6046C= (p.Pro2016=) n.8387C= n.7376C= | |
12 | g.49042140G>T | CA384626812 | KMT2D | c.849C>A c.6058C>A (p.Pro2020Thr) c.6067C>A (p.Pro2023Thr) c.170C>A c.6055C>A (p.Pro2019Thr) c.6064C>A (p.Pro2022Thr) c.6046C>A (p.Pro2016Thr) n.8387C>A n.7376C>A | |
12 | g.49042141T>A | CA479511710 | KMT2D | c.848A>T c.6057A>T (p.Ser2019=) c.6066A>T (p.Ser2022=) c.169A>T c.6054A>T (p.Ser2018=) c.6063A>T (p.Ser2021=) c.6045A>T (p.Ser2015=) n.8386A>T n.7375A>T | dbSNP |
12 | g.49042141T>C | CA479511711 | KMT2D | c.848A>G c.6057A>G (p.Ser2019=) c.6066A>G (p.Ser2022=) c.169A>G c.6054A>G (p.Ser2018=) c.6063A>G (p.Ser2021=) c.6045A>G (p.Ser2015=) n.8386A>G n.7375A>G | |
12 | g.49042141T>G | CA479511712 | KMT2D | c.848A>C c.6057A>C (p.Ser2019=) c.6066A>C (p.Ser2022=) c.169A>C c.6054A>C (p.Ser2018=) c.6063A>C (p.Ser2021=) c.6045A>C (p.Ser2015=) n.8386A>C n.7375A>C | gnomAD v4 |
12 | g.49042142G>A | CA236612497 | KMT2D | c.847C>T c.6056C>T (p.Ser2019Leu) c.6065C>T (p.Ser2022Leu) c.168C>T c.6053C>T (p.Ser2018Leu) c.6062C>T (p.Ser2021Leu) c.6044C>T (p.Ser2015Leu) n.8385C>T n.7374C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042142G>C | CA384626819 | KMT2D | c.847C>G c.6056C>G (p.Ser2019Ter) c.6065C>G (p.Ser2022Ter) c.168C>G c.6053C>G (p.Ser2018Ter) c.6062C>G (p.Ser2021Ter) c.6044C>G (p.Ser2015Ter) n.8385C>G n.7374C>G | |
12 | g.49042142G= | CA2034947831 | KMT2D | c.847C= c.6056C= (p.Ser2019=) c.6065C= (p.Ser2022=) c.168C= c.6053C= (p.Ser2018=) c.6062C= (p.Ser2021=) c.6044C= (p.Ser2015=) n.8385C= n.7374C= | |
12 | g.49042142G>T | CA384626827 | KMT2D | c.847C>A c.6056C>A (p.Ser2019Ter) c.6065C>A (p.Ser2022Ter) c.168C>A c.6053C>A (p.Ser2018Ter) c.6062C>A (p.Ser2021Ter) c.6044C>A (p.Ser2015Ter) n.8385C>A n.7374C>A | |
12 | g.49042143A>C | CA384626830 | KMT2D | c.846T>G c.6055T>G (p.Ser2019Ala) c.6064T>G (p.Ser2022Ala) c.167T>G c.6052T>G (p.Ser2018Ala) c.6061T>G (p.Ser2021Ala) c.6043T>G (p.Ser2015Ala) n.8384T>G n.7373T>G | |
12 | g.49042143A>G | CA384626832 | KMT2D | c.846T>C c.6055T>C (p.Ser2019Pro) c.6064T>C (p.Ser2022Pro) c.167T>C c.6052T>C (p.Ser2018Pro) c.6061T>C (p.Ser2021Pro) c.6043T>C (p.Ser2015Pro) n.8384T>C n.7373T>C | dbSNP |
12 | g.49042143A>T | CA384626834 | KMT2D | c.846T>A c.6055T>A (p.Ser2019Thr) c.6064T>A (p.Ser2022Thr) c.167T>A c.6052T>A (p.Ser2018Thr) c.6061T>A (p.Ser2021Thr) c.6043T>A (p.Ser2015Thr) n.8384T>A n.7373T>A | gnomAD v4 |
12 | g.49042144G>A | CA479511714 | KMT2D | c.845C>T c.6054C>T (p.Ile2018=) c.6063C>T (p.Ile2021=) c.166C>T c.6051C>T (p.Ile2017=) c.6060C>T (p.Ile2020=) c.6042C>T (p.Ile2014=) n.8383C>T n.7372C>T | gnomAD v4 |
12 | g.49042144G>C | CA384626835 | KMT2D | c.845C>G c.6054C>G (p.Ile2018Met) c.6063C>G (p.Ile2021Met) c.166C>G c.6051C>G (p.Ile2017Met) c.6060C>G (p.Ile2020Met) c.6042C>G (p.Ile2014Met) n.8383C>G n.7372C>G | |
12 | g.49042144G>T | CA479511715 | KMT2D | c.845C>A c.6054C>A (p.Ile2018=) c.6063C>A (p.Ile2021=) c.166C>A c.6051C>A (p.Ile2017=) c.6060C>A (p.Ile2020=) c.6042C>A (p.Ile2014=) n.8383C>A n.7372C>A | |
12 | g.49042145A>C | CA384626836 | KMT2D | c.844T>G c.6053T>G (p.Ile2018Ser) c.6062T>G (p.Ile2021Ser) c.165T>G c.6050T>G (p.Ile2017Ser) c.6059T>G (p.Ile2020Ser) c.6041T>G (p.Ile2014Ser) n.8382T>G n.7371T>G | |
12 | g.49042145A>G | CA384626837 | KMT2D | c.844T>C c.6053T>C (p.Ile2018Thr) c.6062T>C (p.Ile2021Thr) c.165T>C c.6050T>C (p.Ile2017Thr) c.6059T>C (p.Ile2020Thr) c.6041T>C (p.Ile2014Thr) n.8382T>C n.7371T>C | |
12 | g.49042145A>T | CA384626838 | KMT2D | c.844T>A c.6053T>A (p.Ile2018Asn) c.6062T>A (p.Ile2021Asn) c.165T>A c.6050T>A (p.Ile2017Asn) c.6059T>A (p.Ile2020Asn) c.6041T>A (p.Ile2014Asn) n.8382T>A n.7371T>A | |
12 | g.49042146T>A | CA384626841 | KMT2D | c.843A>T c.6052A>T (p.Ile2018Phe) c.6061A>T (p.Ile2021Phe) c.164A>T c.6049A>T (p.Ile2017Phe) c.6058A>T (p.Ile2020Phe) c.6040A>T (p.Ile2014Phe) n.8381A>T n.7370A>T | |
12 | g.49042146T>C | CA384626840 | KMT2D | c.843A>G c.6052A>G (p.Ile2018Val) c.6061A>G (p.Ile2021Val) c.164A>G c.6049A>G (p.Ile2017Val) c.6058A>G (p.Ile2020Val) c.6040A>G (p.Ile2014Val) n.8381A>G n.7370A>G | |
12 | g.49042146T>G | CA384626839 | KMT2D | c.843A>C c.6052A>C (p.Ile2018Leu) c.6061A>C (p.Ile2021Leu) c.164A>C c.6049A>C (p.Ile2017Leu) c.6058A>C (p.Ile2020Leu) c.6040A>C (p.Ile2014Leu) n.8381A>C n.7370A>C | dbSNP |
12 | g.49042147G>A | CA479511719 | KMT2D | c.842C>T c.6051C>T (p.Thr2017=) c.6060C>T (p.Thr2020=) c.163C>T c.6048C>T (p.Thr2016=) c.6057C>T (p.Thr2019=) c.6039C>T (p.Thr2013=) n.8380C>T n.7369C>T | ClinVar |
12 | g.49042147G>C | CA479511720 | KMT2D | c.842C>G c.6051C>G (p.Thr2017=) c.6060C>G (p.Thr2020=) c.163C>G c.6048C>G (p.Thr2016=) c.6057C>G (p.Thr2019=) c.6039C>G (p.Thr2013=) n.8380C>G n.7369C>G | |
12 | g.49042147G>T | CA479511721 | KMT2D | c.842C>A c.6051C>A (p.Thr2017=) c.6060C>A (p.Thr2020=) c.163C>A c.6048C>A (p.Thr2016=) c.6057C>A (p.Thr2019=) c.6039C>A (p.Thr2013=) n.8380C>A n.7369C>A | |
12 | g.49042148G>A | CA384626843 | KMT2D | c.841C>T c.6050C>T (p.Thr2017Ile) c.6059C>T (p.Thr2020Ile) c.162C>T c.6047C>T (p.Thr2016Ile) c.6056C>T (p.Thr2019Ile) c.6038C>T (p.Thr2013Ile) n.8379C>T n.7368C>T | dbSNP |
12 | g.49042148G>C | CA384626848 | KMT2D | c.841C>G c.6050C>G (p.Thr2017Ser) c.6059C>G (p.Thr2020Ser) c.162C>G c.6047C>G (p.Thr2016Ser) c.6056C>G (p.Thr2019Ser) c.6038C>G (p.Thr2013Ser) n.8379C>G n.7368C>G | COSMIC |
12 | g.49042148G>T | CA384626846 | KMT2D | c.841C>A c.6050C>A (p.Thr2017Asn) c.6059C>A (p.Thr2020Asn) c.162C>A c.6047C>A (p.Thr2016Asn) c.6056C>A (p.Thr2019Asn) c.6038C>A (p.Thr2013Asn) n.8379C>A n.7368C>A | |
12 | g.49042149T>A | CA384626851 | KMT2D | c.840A>T c.6049A>T (p.Thr2017Ser) c.6058A>T (p.Thr2020Ser) c.161A>T c.6046A>T (p.Thr2016Ser) c.6055A>T (p.Thr2019Ser) c.6037A>T (p.Thr2013Ser) n.8378A>T n.7367A>T | dbSNP |
12 | g.49042149T>C | CA6547382 | KMT2D | c.840A>G c.6049A>G (p.Thr2017Ala) c.6058A>G (p.Thr2020Ala) c.161A>G c.6046A>G (p.Thr2016Ala) c.6055A>G (p.Thr2019Ala) c.6037A>G (p.Thr2013Ala) n.8378A>G n.7367A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49042149T>G | CA384626854 | KMT2D | c.840A>C c.6049A>C (p.Thr2017Pro) c.6058A>C (p.Thr2020Pro) c.161A>C c.6046A>C (p.Thr2016Pro) c.6055A>C (p.Thr2019Pro) c.6037A>C (p.Thr2013Pro) n.8378A>C n.7367A>C | |
12 | g.49042149T= | CA2034947832 | KMT2D | c.840A= c.6049A= (p.Thr2017=) c.6058A= (p.Thr2020=) c.161A= c.6046A= (p.Thr2016=) c.6055A= (p.Thr2019=) c.6037A= (p.Thr2013=) n.8378A= n.7367A= | |
12 | g.49042150G>A | CA479511728 | KMT2D | c.839C>T c.6048C>T (p.Ser2016=) c.6057C>T (p.Ser2019=) c.160C>T c.6045C>T (p.Ser2015=) c.6054C>T (p.Ser2018=) c.6036C>T (p.Ser2012=) n.8377C>T n.7366C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49042150G>C | CA479511726 | KMT2D | c.839C>G c.6048C>G (p.Ser2016=) c.6057C>G (p.Ser2019=) c.160C>G c.6045C>G (p.Ser2015=) c.6054C>G (p.Ser2018=) c.6036C>G (p.Ser2012=) n.8377C>G n.7366C>G | |
12 | g.49042150G= | CA2034947840 | KMT2D | c.839C= c.6048C= (p.Ser2016=) c.6057C= (p.Ser2019=) c.160C= c.6045C= (p.Ser2015=) c.6054C= (p.Ser2018=) c.6036C= (p.Ser2012=) n.8377C= n.7366C= | |
12 | g.49042150G>T | CA479511725 | KMT2D | c.839C>A c.6048C>A (p.Ser2016=) c.6057C>A (p.Ser2019=) c.160C>A c.6045C>A (p.Ser2015=) c.6054C>A (p.Ser2018=) c.6036C>A (p.Ser2012=) n.8377C>A n.7366C>A | COSMIC COSMIC |
12 | g.49042151G>A | CA384626857 | KMT2D | c.838C>T c.6047C>T (p.Ser2016Phe) c.6056C>T (p.Ser2019Phe) c.159C>T c.6044C>T (p.Ser2015Phe) c.6053C>T (p.Ser2018Phe) c.6035C>T (p.Ser2012Phe) n.8376C>T n.7365C>T | |
12 | g.49042151G>C | CA384626859 | KMT2D | c.838C>G c.6047C>G (p.Ser2016Cys) c.6056C>G (p.Ser2019Cys) c.159C>G c.6044C>G (p.Ser2015Cys) c.6053C>G (p.Ser2018Cys) c.6035C>G (p.Ser2012Cys) n.8376C>G n.7365C>G | |
12 | g.49042151G>T | CA384626862 | KMT2D | c.838C>A c.6047C>A (p.Ser2016Tyr) c.6056C>A (p.Ser2019Tyr) c.159C>A c.6044C>A (p.Ser2015Tyr) c.6053C>A (p.Ser2018Tyr) c.6035C>A (p.Ser2012Tyr) n.8376C>A n.7365C>A | |
12 | g.49042152A>C | CA384626866 | KMT2D | c.837T>G c.6046T>G (p.Ser2016Ala) c.6055T>G (p.Ser2019Ala) c.158T>G c.6043T>G (p.Ser2015Ala) c.6052T>G (p.Ser2018Ala) c.6034T>G (p.Ser2012Ala) n.8375T>G n.7364T>G | |
12 | g.49042152A>G | CA384626868 | KMT2D | c.837T>C c.6046T>C (p.Ser2016Pro) c.6055T>C (p.Ser2019Pro) c.158T>C c.6043T>C (p.Ser2015Pro) c.6052T>C (p.Ser2018Pro) c.6034T>C (p.Ser2012Pro) n.8375T>C n.7364T>C | |
12 | g.49042152A>T | CA384626870 | KMT2D | c.837T>A c.6046T>A (p.Ser2016Thr) c.6055T>A (p.Ser2019Thr) c.158T>A c.6043T>A (p.Ser2015Thr) c.6052T>A (p.Ser2018Thr) c.6034T>A (p.Ser2012Thr) n.8375T>A n.7364T>A |