| 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.49042573_49042584del | CA2580086392 | KMT2D | c.658_669del c.5846_5857del (p.Gln1949_Phe1952del) c.5855_5866del (p.Gln1952_Phe1955del) c.1795_1806del (n.1795_1806del) c.5843_5854del (p.Gln1948_Phe1951del) c.5852_5863del (p.Gln1951_Phe1954del) n.8175_8186del n.7164_7175del | ClinVar gnomAD v4 |
| 12 | g.49042579del | CA16609843 | KMT2D | c.664del c.5852del (p.Pro1951ArgfsTer?) c.5861del (p.Pro1954ArgfsTer?) c.1801del (n.1801del) c.5849del (p.Pro1950ArgfsTer?) c.5858del (p.Pro1953ArgfsTer?) n.8181del n.7170del | ClinVar dbSNP |
| 12 | g.49042579G>A | CA384628016 | KMT2D | c.661C>T c.5849C>T (p.Ser1950Phe) c.5858C>T (p.Ser1953Phe) c.1798C>T (n.1798C>T) c.5846C>T (p.Ser1949Phe) c.5855C>T (p.Ser1952Phe) n.8178C>T n.7167C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042579G>C | CA384628033 | KMT2D | c.661C>G c.5849C>G (p.Ser1950Cys) c.5858C>G (p.Ser1953Cys) c.1798C>G (n.1798C>G) c.5846C>G (p.Ser1949Cys) c.5855C>G (p.Ser1952Cys) n.8178C>G n.7167C>G | dbSNP |
| 12 | g.49042579G= | CA2034948341 | KMT2D | c.661C= c.5849C= (p.Ser1950=) c.5858C= (p.Ser1953=) c.1798C= (n.1798C=) c.5846C= (p.Ser1949=) c.5855C= (p.Ser1952=) n.8178C= n.7167C= | |
| 12 | g.49042579G>T | CA384628020 | KMT2D | c.661C>A c.5849C>A (p.Ser1950Tyr) c.5858C>A (p.Ser1953Tyr) c.1798C>A (n.1798C>A) c.5846C>A (p.Ser1949Tyr) c.5855C>A (p.Ser1952Tyr) n.8178C>A n.7167C>A | |
| 12 | g.49042580del | CA2695216461 | KMT2D | c.660del c.5848del (p.Ser1950ProfsTer?) c.5857del (p.Ser1953ProfsTer?) c.1797del (n.1797del) c.5845del (p.Ser1949ProfsTer?) c.5854del (p.Ser1952ProfsTer?) n.8177del n.7166del | |
| 12 | g.49042580A>C | CA384628040 | KMT2D | c.660T>G c.5848T>G (p.Ser1950Ala) c.5857T>G (p.Ser1953Ala) c.1797T>G (n.1797T>G) c.5845T>G (p.Ser1949Ala) c.5854T>G (p.Ser1952Ala) n.8177T>G n.7166T>G | |
| 12 | g.49042580A>G | CA384628046 | KMT2D | c.660T>C c.5848T>C (p.Ser1950Pro) c.5857T>C (p.Ser1953Pro) c.1797T>C (n.1797T>C) c.5845T>C (p.Ser1949Pro) c.5854T>C (p.Ser1952Pro) n.8177T>C n.7166T>C | dbSNP |
| 12 | g.49042580A>T | CA384628042 | KMT2D | c.660T>A c.5848T>A (p.Ser1950Thr) c.5857T>A (p.Ser1953Thr) c.1797T>A (n.1797T>A) c.5845T>A (p.Ser1949Thr) c.5854T>A (p.Ser1952Thr) n.8177T>A n.7166T>A | dbSNP |
| 12 | g.49042581C>A | CA384628050 | KMT2D | c.659G>T c.5847G>T (p.Gln1949His) c.5856G>T (p.Gln1952His) c.1796G>T (n.1796G>T) c.5844G>T (p.Gln1948His) c.5853G>T (p.Gln1951His) n.8176G>T n.7165G>T | |
| 12 | g.49042581C>G | CA384628055 | KMT2D | c.659G>C c.5847G>C (p.Gln1949His) c.5856G>C (p.Gln1952His) c.1796G>C (n.1796G>C) c.5844G>C (p.Gln1948His) c.5853G>C (p.Gln1951His) n.8176G>C n.7165G>C | dbSNP |
| 12 | g.49042581C>T | CA479712444 | KMT2D | c.659G>A c.5847G>A (p.Gln1949=) c.5856G>A (p.Gln1952=) c.1796G>A (n.1796G>A) c.5844G>A (p.Gln1948=) c.5853G>A (p.Gln1951=) n.8176G>A n.7165G>A | dbSNP |
| 12 | g.49042582T>A | CA384628057 | KMT2D | c.658A>T c.5846A>T (p.Gln1949Leu) c.5855A>T (p.Gln1952Leu) c.1795A>T (n.1795A>T) c.5843A>T (p.Gln1948Leu) c.5852A>T (p.Gln1951Leu) n.8175A>T n.7164A>T | |
| 12 | g.49042582T>C | CA384628058 | KMT2D | c.658A>G c.5846A>G (p.Gln1949Arg) c.5855A>G (p.Gln1952Arg) c.1795A>G (n.1795A>G) c.5843A>G (p.Gln1948Arg) c.5852A>G (p.Gln1951Arg) n.8175A>G n.7164A>G | gnomAD v4 |
| 12 | g.49042582T>G | CA384628062 | KMT2D | c.658A>C c.5846A>C (p.Gln1949Pro) c.5855A>C (p.Gln1952Pro) c.1795A>C (n.1795A>C) c.5843A>C (p.Gln1948Pro) c.5852A>C (p.Gln1951Pro) n.8175A>C n.7164A>C | gnomAD v4 |
| 12 | g.49042583G>A | CA384628063 | KMT2D | c.657C>T c.5845C>T (p.Gln1949Ter) c.5854C>T (p.Gln1952Ter) c.1794C>T (n.1794C>T) c.5842C>T (p.Gln1948Ter) c.5851C>T (p.Gln1951Ter) n.8174C>T n.7163C>T | dbSNP |
| 12 | g.49042583G>C | CA384628064 | KMT2D | c.657C>G c.5845C>G (p.Gln1949Glu) c.5854C>G (p.Gln1952Glu) c.1794C>G (n.1794C>G) c.5842C>G (p.Gln1948Glu) c.5851C>G (p.Gln1951Glu) n.8174C>G n.7163C>G | dbSNP gnomAD v4 |
| 12 | g.49042583G>T | CA384628065 | KMT2D | c.657C>A c.5845C>A (p.Gln1949Lys) c.5854C>A (p.Gln1952Lys) c.1794C>A (n.1794C>A) c.5842C>A (p.Gln1948Lys) c.5851C>A (p.Gln1951Lys) n.8174C>A n.7163C>A | |
| 12 | g.49042584del | CA2695216462 | KMT2D | c.657del c.5845del (p.Gln1949SerfsTer?) c.5854del (p.Gln1952SerfsTer?) c.1794del (n.1794del) c.5842del (p.Gln1948SerfsTer?) c.5851del (p.Gln1951SerfsTer?) n.8174del n.7163del | |
| 12 | g.49042584G>A | CA479712449 | KMT2D | c.656C>T c.5844C>T (p.Cys1948=) c.5853C>T (p.Cys1951=) c.1793C>T (n.1793C>T) c.5841C>T (p.Cys1947=) c.5850C>T (p.Cys1950=) n.8173C>T n.7162C>T | dbSNP |
| 12 | g.49042584G>C | CA384628066 | KMT2D | c.656C>G c.5844C>G (p.Cys1948Trp) c.5853C>G (p.Cys1951Trp) c.1793C>G (n.1793C>G) c.5841C>G (p.Cys1947Trp) c.5850C>G (p.Cys1950Trp) n.8173C>G n.7162C>G | dbSNP |
| 12 | g.49042584G>T | CA384628067 | KMT2D | c.656C>A c.5844C>A (p.Cys1948Ter) c.5853C>A (p.Cys1951Ter) c.1793C>A (n.1793C>A) c.5841C>A (p.Cys1947Ter) c.5850C>A (p.Cys1950Ter) n.8173C>A n.7162C>A | |
| 12 | g.49042585C>A | CA384628069 | KMT2D | c.655G>T c.5843G>T (p.Cys1948Phe) c.5852G>T (p.Cys1951Phe) c.1792G>T (n.1792G>T) c.5840G>T (p.Cys1947Phe) c.5849G>T (p.Cys1950Phe) n.8172G>T n.7161G>T | |
| 12 | g.49042585C>G | CA384628071 | KMT2D | c.655G>C c.5843G>C (p.Cys1948Ser) c.5852G>C (p.Cys1951Ser) c.1792G>C (n.1792G>C) c.5840G>C (p.Cys1947Ser) c.5849G>C (p.Cys1950Ser) n.8172G>C n.7161G>C | ClinVar dbSNP |
| 12 | g.49042585C>T | CA384628074 | KMT2D | c.655G>A c.5843G>A (p.Cys1948Tyr) c.5852G>A (p.Cys1951Tyr) c.1792G>A (n.1792G>A) c.5840G>A (p.Cys1947Tyr) c.5849G>A (p.Cys1950Tyr) n.8172G>A n.7161G>A | dbSNP |
| 12 | g.49042586A>C | CA384628079 | KMT2D | c.654T>G c.5842T>G (p.Cys1948Gly) c.5851T>G (p.Cys1951Gly) c.1791T>G (n.1791T>G) c.5839T>G (p.Cys1947Gly) c.5848T>G (p.Cys1950Gly) n.8171T>G n.7160T>G | |
| 12 | g.49042586A>G | CA384628078 | KMT2D | c.654T>C c.5842T>C (p.Cys1948Arg) c.5851T>C (p.Cys1951Arg) c.1791T>C (n.1791T>C) c.5839T>C (p.Cys1947Arg) c.5848T>C (p.Cys1950Arg) n.8171T>C n.7160T>C | |
| 12 | g.49042586A>T | CA384628075 | KMT2D | c.654T>A c.5842T>A (p.Cys1948Ser) c.5851T>A (p.Cys1951Ser) c.1791T>A (n.1791T>A) c.5839T>A (p.Cys1947Ser) c.5848T>A (p.Cys1950Ser) n.8171T>A n.7160T>A | dbSNP |
| 12 | g.49042587G>A | CA479712455 | KMT2D | c.653C>T c.5841C>T (p.Leu1947=) c.5850C>T (p.Leu1950=) c.1790C>T (n.1790C>T) c.5838C>T (p.Leu1946=) c.5847C>T (p.Leu1949=) n.8170C>T n.7159C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042587G>C | CA479712456 | KMT2D | c.653C>G c.5841C>G (p.Leu1947=) c.5850C>G (p.Leu1950=) c.1790C>G (n.1790C>G) c.5838C>G (p.Leu1946=) c.5847C>G (p.Leu1949=) n.8170C>G n.7159C>G | dbSNP gnomAD v4 |
| 12 | g.49042587G= | CA2034948343 | KMT2D | c.653C= c.5841C= (p.Leu1947=) c.5850C= (p.Leu1950=) c.1790C= (n.1790C=) c.5838C= (p.Leu1946=) c.5847C= (p.Leu1949=) n.8170C= n.7159C= | |
| 12 | g.49042587G>T | CA479712457 | KMT2D | c.653C>A c.5841C>A (p.Leu1947=) c.5850C>A (p.Leu1950=) c.1790C>A (n.1790C>A) c.5838C>A (p.Leu1946=) c.5847C>A (p.Leu1949=) n.8170C>A n.7159C>A | dbSNP |
| 12 | g.49042588A>C | CA384628082 | KMT2D | c.652T>G c.5840T>G (p.Leu1947Arg) c.5849T>G (p.Leu1950Arg) c.1789T>G (n.1789T>G) c.5837T>G (p.Leu1946Arg) c.5846T>G (p.Leu1949Arg) n.8169T>G n.7158T>G | |
| 12 | g.49042588A>G | CA384628084 | KMT2D | c.652T>C c.5840T>C (p.Leu1947Pro) c.5849T>C (p.Leu1950Pro) c.1789T>C (n.1789T>C) c.5837T>C (p.Leu1946Pro) c.5846T>C (p.Leu1949Pro) n.8169T>C n.7158T>C | dbSNP |
| 12 | g.49042588A>T | CA384628085 | KMT2D | c.652T>A c.5840T>A (p.Leu1947His) c.5849T>A (p.Leu1950His) c.1789T>A (n.1789T>A) c.5837T>A (p.Leu1946His) c.5846T>A (p.Leu1949His) n.8169T>A n.7158T>A | dbSNP |
| 12 | g.49042589G>A | CA384628086 | KMT2D | c.651C>T c.5839C>T (p.Leu1947Phe) c.5848C>T (p.Leu1950Phe) c.1788C>T (n.1788C>T) c.5836C>T (p.Leu1946Phe) c.5845C>T (p.Leu1949Phe) n.8168C>T n.7157C>T | dbSNP |
| 12 | g.49042589G>C | CA384628087 | KMT2D | c.651C>G c.5839C>G (p.Leu1947Val) c.5848C>G (p.Leu1950Val) c.1788C>G (n.1788C>G) c.5836C>G (p.Leu1946Val) c.5845C>G (p.Leu1949Val) n.8168C>G n.7157C>G | dbSNP |
| 12 | g.49042589G= | CA2034948346 | KMT2D | c.651C= c.5839C= (p.Leu1947=) c.5848C= (p.Leu1950=) c.1788C= (n.1788C=) c.5836C= (p.Leu1946=) c.5845C= (p.Leu1949=) n.8168C= n.7157C= | |
| 12 | g.49042589G>T | CA384628089 | KMT2D | c.651C>A c.5839C>A (p.Leu1947Ile) c.5848C>A (p.Leu1950Ile) c.1788C>A (n.1788C>A) c.5836C>A (p.Leu1946Ile) c.5845C>A (p.Leu1949Ile) n.8168C>A n.7157C>A | |
| 12 | g.49042590G>A | CA479712462 | KMT2D | c.650C>T c.5838C>T (p.Gly1946=) c.5847C>T (p.Gly1949=) c.1787C>T (n.1787C>T) c.5835C>T (p.Gly1945=) c.5844C>T (p.Gly1948=) n.8167C>T n.7156C>T | dbSNP gnomAD v4 |
| 12 | g.49042590G>C | CA479712461 | KMT2D | c.650C>G c.5838C>G (p.Gly1946=) c.5847C>G (p.Gly1949=) c.1787C>G (n.1787C>G) c.5835C>G (p.Gly1945=) c.5844C>G (p.Gly1948=) n.8167C>G n.7156C>G | dbSNP |
| 12 | g.49042590G>T | CA479712460 | KMT2D | c.650C>A c.5838C>A (p.Gly1946=) c.5847C>A (p.Gly1949=) c.1787C>A (n.1787C>A) c.5835C>A (p.Gly1945=) c.5844C>A (p.Gly1948=) n.8167C>A n.7156C>A | ClinVar dbSNP |
| 12 | g.49042591C>A | CA384628098 | KMT2D | c.649G>T c.5837G>T (p.Gly1946Val) c.5846G>T (p.Gly1949Val) c.1786G>T (n.1786G>T) c.5834G>T (p.Gly1945Val) c.5843G>T (p.Gly1948Val) n.8166G>T n.7155G>T | |
| 12 | g.49042591C>G | CA384628100 | KMT2D | c.649G>C c.5837G>C (p.Gly1946Ala) c.5846G>C (p.Gly1949Ala) c.1786G>C (n.1786G>C) c.5834G>C (p.Gly1945Ala) c.5843G>C (p.Gly1948Ala) n.8166G>C n.7155G>C | dbSNP COSMIC COSMIC |
| 12 | g.49042591C>T | CA384628102 | KMT2D | c.649G>A c.5837G>A (p.Gly1946Asp) c.5846G>A (p.Gly1949Asp) c.1786G>A (n.1786G>A) c.5834G>A (p.Gly1945Asp) c.5843G>A (p.Gly1948Asp) n.8166G>A n.7155G>A | dbSNP |
| 12 | g.49042592C>A | CA384628105 | KMT2D | c.648G>T c.5836G>T (p.Gly1946Cys) c.5845G>T (p.Gly1949Cys) c.1785G>T (n.1785G>T) c.5833G>T (p.Gly1945Cys) c.5842G>T (p.Gly1948Cys) n.8165G>T n.7154G>T | dbSNP gnomAD v4 |
| 12 | g.49042592C>G | CA384628113 | KMT2D | c.648G>C c.5836G>C (p.Gly1946Arg) c.5845G>C (p.Gly1949Arg) c.1785G>C (n.1785G>C) c.5833G>C (p.Gly1945Arg) c.5842G>C (p.Gly1948Arg) n.8165G>C n.7154G>C | dbSNP |
| 12 | g.49042592C>T | CA384628114 | KMT2D | c.648G>A c.5836G>A (p.Gly1946Ser) c.5845G>A (p.Gly1949Ser) c.1785G>A (n.1785G>A) c.5833G>A (p.Gly1945Ser) c.5842G>A (p.Gly1948Ser) n.8165G>A n.7154G>A | gnomAD v4 |