Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35732478T>A | CA405424610 | KMT2B | n.235T>A c.5863T>A (p.Phe1955Ile) c.3470T>A (n.3470T>A) c.1147T>A (p.Phe383Ile) n.1082T>A c.1150T>A (p.Phe384Ile) c.5471T>A c.5929T>A (p.Phe1977Ile) c.704+149T>A (n.704+149T>A) c.3251T>A c.5653T>A (p.Phe1885Ile) c.5365T>A (p.Phe1789Ile) c.2893T>A (p.Phe965Ile) | |
19 | g.35732478T>C | CA405424612 | KMT2B | n.235T>C c.5863T>C (p.Phe1955Leu) c.3470T>C (n.3470T>C) c.1147T>C (p.Phe383Leu) n.1082T>C c.1150T>C (p.Phe384Leu) c.5471T>C c.5929T>C (p.Phe1977Leu) c.704+149T>C (n.704+149T>C) c.3251T>C c.5653T>C (p.Phe1885Leu) c.5365T>C (p.Phe1789Leu) c.2893T>C (p.Phe965Leu) | |
19 | g.35732478T>G | CA405424614 | KMT2B | n.235T>G c.5863T>G (p.Phe1955Val) c.3470T>G (n.3470T>G) c.1147T>G (p.Phe383Val) n.1082T>G c.1150T>G (p.Phe384Val) c.5471T>G c.5929T>G (p.Phe1977Val) c.704+149T>G (n.704+149T>G) c.3251T>G c.5653T>G (p.Phe1885Val) c.5365T>G (p.Phe1789Val) c.2893T>G (p.Phe965Val) | |
19 | g.35732479T>A | CA405424615 | KMT2B | n.236T>A c.5864T>A (p.Phe1955Tyr) c.3471T>A (n.3471T>A) c.1148T>A (p.Phe383Tyr) n.1083T>A c.1151T>A (p.Phe384Tyr) c.5472T>A c.5930T>A (p.Phe1977Tyr) c.704+150T>A (n.704+150T>A) c.3252T>A c.5654T>A (p.Phe1885Tyr) c.5366T>A (p.Phe1789Tyr) c.2894T>A (p.Phe965Tyr) | |
19 | g.35732479T>C | CA405424617 | KMT2B | n.236T>C c.5864T>C (p.Phe1955Ser) c.3471T>C (n.3471T>C) c.1148T>C (p.Phe383Ser) n.1083T>C c.1151T>C (p.Phe384Ser) c.5472T>C c.5930T>C (p.Phe1977Ser) c.704+150T>C (n.704+150T>C) c.3252T>C c.5654T>C (p.Phe1885Ser) c.5366T>C (p.Phe1789Ser) c.2894T>C (p.Phe965Ser) | |
19 | g.35732479T>G | CA405424619 | KMT2B | n.236T>G c.5864T>G (p.Phe1955Cys) c.3471T>G (n.3471T>G) c.1148T>G (p.Phe383Cys) n.1083T>G c.1151T>G (p.Phe384Cys) c.5472T>G c.5930T>G (p.Phe1977Cys) c.704+150T>G (n.704+150T>G) c.3252T>G c.5654T>G (p.Phe1885Cys) c.5366T>G (p.Phe1789Cys) c.2894T>G (p.Phe965Cys) | |
19 | g.35732480C>A | CA405424621 | KMT2B | n.237C>A c.5865C>A (p.Phe1955Leu) c.3472C>A (n.3472C>A) c.1149C>A (p.Phe383Leu) n.1084C>A c.1152C>A (p.Phe384Leu) c.5473C>A c.5931C>A (p.Phe1977Leu) c.704+151C>A (n.704+151C>A) c.3253C>A c.5655C>A (p.Phe1885Leu) c.5367C>A (p.Phe1789Leu) c.2895C>A (p.Phe965Leu) | dbSNP gnomAD v2 |
19 | g.35732480C= | CA2333794341 | KMT2B | n.237C= c.5865C= (p.Phe1955=) c.3472C= (n.3472C=) c.1149C= (p.Phe383=) n.1084C= c.1152C= (p.Phe384=) c.5473C= c.5931C= (p.Phe1977=) c.704+151C= (n.704+151C=) c.3253C= c.5655C= (p.Phe1885=) c.5367C= (p.Phe1789=) c.2895C= (p.Phe965=) | |
19 | g.35732480C>G | CA405424623 | KMT2B | n.237C>G c.5865C>G (p.Phe1955Leu) c.3472C>G (n.3472C>G) c.1149C>G (p.Phe383Leu) n.1084C>G c.1152C>G (p.Phe384Leu) c.5473C>G c.5931C>G (p.Phe1977Leu) c.704+151C>G (n.704+151C>G) c.3253C>G c.5655C>G (p.Phe1885Leu) c.5367C>G (p.Phe1789Leu) c.2895C>G (p.Phe965Leu) | |
19 | g.35732480C>T | CA9385569 | KMT2B | n.237C>T c.5865C>T (p.Phe1955=) c.3472C>T (n.3472C>T) c.1149C>T (p.Phe383=) n.1084C>T c.1152C>T (p.Phe384=) c.5473C>T c.5931C>T (p.Phe1977=) c.704+151C>T (n.704+151C>T) c.3253C>T c.5655C>T (p.Phe1885=) c.5367C>T (p.Phe1789=) c.2895C>T (p.Phe965=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732481G>A | CA307795955 | KMT2B | n.238G>A c.5866G>A (p.Glu1956Lys) c.3473G>A (n.3473G>A) c.1150G>A (p.Glu384Lys) n.1085G>A c.1153G>A (p.Glu385Lys) c.5474G>A c.5932G>A (p.Glu1978Lys) c.704+152G>A (n.704+152G>A) c.3254G>A c.5656G>A (p.Glu1886Lys) c.5368G>A (p.Glu1790Lys) c.2896G>A (p.Glu966Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732481G>C | CA405424626 | KMT2B | n.238G>C c.5866G>C (p.Glu1956Gln) c.3473G>C (n.3473G>C) c.1150G>C (p.Glu384Gln) n.1085G>C c.1153G>C (p.Glu385Gln) c.5474G>C c.5932G>C (p.Glu1978Gln) c.704+152G>C (n.704+152G>C) c.3254G>C c.5656G>C (p.Glu1886Gln) c.5368G>C (p.Glu1790Gln) c.2896G>C (p.Glu966Gln) | |
19 | g.35732481G= | CA2333794342 | KMT2B | n.238G= c.5866G= (p.Glu1956=) c.3473G= (n.3473G=) c.1150G= (p.Glu384=) n.1085G= c.1153G= (p.Glu385=) c.5474G= c.5932G= (p.Glu1978=) c.704+152G= (n.704+152G=) c.3254G= c.5656G= (p.Glu1886=) c.5368G= (p.Glu1790=) c.2896G= (p.Glu966=) | |
19 | g.35732481G>T | CA405424629 | KMT2B | n.238G>T c.5866G>T (p.Glu1956Ter) c.3473G>T (n.3473G>T) c.1150G>T (p.Glu384Ter) n.1085G>T c.1153G>T (p.Glu385Ter) c.5474G>T c.5932G>T (p.Glu1978Ter) c.704+152G>T (n.704+152G>T) c.3254G>T c.5656G>T (p.Glu1886Ter) c.5368G>T (p.Glu1790Ter) c.2896G>T (p.Glu966Ter) | |
19 | g.35732482A>C | CA405424631 | KMT2B | n.239A>C c.5867A>C (p.Glu1956Ala) c.3474A>C (n.3474A>C) c.1151A>C (p.Glu384Ala) n.1086A>C c.1154A>C (p.Glu385Ala) c.5475A>C c.5933A>C (p.Glu1978Ala) c.704+153A>C (n.704+153A>C) c.3255A>C c.5657A>C (p.Glu1886Ala) c.5369A>C (p.Glu1790Ala) c.2897A>C (p.Glu966Ala) | |
19 | g.35732482A>G | CA405424633 | KMT2B | n.239A>G c.5867A>G (p.Glu1956Gly) c.3474A>G (n.3474A>G) c.1151A>G (p.Glu384Gly) n.1086A>G c.1154A>G (p.Glu385Gly) c.5475A>G c.5933A>G (p.Glu1978Gly) c.704+153A>G (n.704+153A>G) c.3255A>G c.5657A>G (p.Glu1886Gly) c.5369A>G (p.Glu1790Gly) c.2897A>G (p.Glu966Gly) | gnomAD v4 |
19 | g.35732482A>T | CA405424634 | KMT2B | n.239A>T c.5867A>T (p.Glu1956Val) c.3474A>T (n.3474A>T) c.1151A>T (p.Glu384Val) n.1086A>T c.1154A>T (p.Glu385Val) c.5475A>T c.5933A>T (p.Glu1978Val) c.704+153A>T (n.704+153A>T) c.3255A>T c.5657A>T (p.Glu1886Val) c.5369A>T (p.Glu1790Val) c.2897A>T (p.Glu966Val) | |
19 | g.35732483G>A | CA507308085 | KMT2B | n.240G>A c.5868G>A (p.Glu1956=) c.3475G>A (n.3475G>A) c.1152G>A (p.Glu384=) n.1087G>A c.1155G>A (p.Glu385=) c.5476G>A c.5934G>A (p.Glu1978=) c.704+154G>A (n.704+154G>A) c.3256G>A c.5658G>A (p.Glu1886=) c.5370G>A (p.Glu1790=) c.2898G>A (p.Glu966=) | |
19 | g.35732483G>C | CA405424637 | KMT2B | n.240G>C c.5868G>C (p.Glu1956Asp) c.3475G>C (n.3475G>C) c.1152G>C (p.Glu384Asp) n.1087G>C c.1155G>C (p.Glu385Asp) c.5476G>C c.5934G>C (p.Glu1978Asp) c.704+154G>C (n.704+154G>C) c.3256G>C c.5658G>C (p.Glu1886Asp) c.5370G>C (p.Glu1790Asp) c.2898G>C (p.Glu966Asp) | |
19 | g.35732483G>T | CA405424638 | KMT2B | n.240G>T c.5868G>T (p.Glu1956Asp) c.3475G>T (n.3475G>T) c.1152G>T (p.Glu384Asp) n.1087G>T c.1155G>T (p.Glu385Asp) c.5476G>T c.5934G>T (p.Glu1978Asp) c.704+154G>T (n.704+154G>T) c.3256G>T c.5658G>T (p.Glu1886Asp) c.5370G>T (p.Glu1790Asp) c.2898G>T (p.Glu966Asp) | |
19 | g.35732484G>A | CA405424639 | KMT2B | n.241G>A c.5869G>A (p.Asp1957Asn) c.3476G>A (n.3476G>A) c.1153G>A (p.Asp385Asn) n.1088G>A c.1156G>A (p.Asp386Asn) c.5477G>A c.5935G>A (p.Asp1979Asn) c.704+155G>A (n.704+155G>A) c.3257G>A c.5659G>A (p.Asp1887Asn) c.5371G>A (p.Asp1791Asn) c.2899G>A (p.Asp967Asn) | |
19 | g.35732484G>C | CA405424640 | KMT2B | n.241G>C c.5869G>C (p.Asp1957His) c.3476G>C (n.3476G>C) c.1153G>C (p.Asp385His) n.1088G>C c.1156G>C (p.Asp386His) c.5477G>C c.5935G>C (p.Asp1979His) c.704+155G>C (n.704+155G>C) c.3257G>C c.5659G>C (p.Asp1887His) c.5371G>C (p.Asp1791His) c.2899G>C (p.Asp967His) | |
19 | g.35732484G>T | CA405424642 | KMT2B | n.241G>T c.5869G>T (p.Asp1957Tyr) c.3476G>T (n.3476G>T) c.1153G>T (p.Asp385Tyr) n.1088G>T c.1156G>T (p.Asp386Tyr) c.5477G>T c.5935G>T (p.Asp1979Tyr) c.704+155G>T (n.704+155G>T) c.3257G>T c.5659G>T (p.Asp1887Tyr) c.5371G>T (p.Asp1791Tyr) c.2899G>T (p.Asp967Tyr) | |
19 | g.35732485A>C | CA405424643 | KMT2B | n.242A>C c.5870A>C (p.Asp1957Ala) c.3477A>C (n.3477A>C) c.1154A>C (p.Asp385Ala) n.1089A>C c.1157A>C (p.Asp386Ala) c.5478A>C c.5936A>C (p.Asp1979Ala) c.704+156A>C (n.704+156A>C) c.3258A>C c.5660A>C (p.Asp1887Ala) c.5372A>C (p.Asp1791Ala) c.2900A>C (p.Asp967Ala) | |
19 | g.35732485A>G | CA405424645 | KMT2B | n.242A>G c.5870A>G (p.Asp1957Gly) c.3477A>G (n.3477A>G) c.1154A>G (p.Asp385Gly) n.1089A>G c.1157A>G (p.Asp386Gly) c.5478A>G c.5936A>G (p.Asp1979Gly) c.704+156A>G (n.704+156A>G) c.3258A>G c.5660A>G (p.Asp1887Gly) c.5372A>G (p.Asp1791Gly) c.2900A>G (p.Asp967Gly) | |
19 | g.35732485A>T | CA405424646 | KMT2B | n.242A>T c.5870A>T (p.Asp1957Val) c.3477A>T (n.3477A>T) c.1154A>T (p.Asp385Val) n.1089A>T c.1157A>T (p.Asp386Val) c.5478A>T c.5936A>T (p.Asp1979Val) c.704+156A>T (n.704+156A>T) c.3258A>T c.5660A>T (p.Asp1887Val) c.5372A>T (p.Asp1791Val) c.2900A>T (p.Asp967Val) | |
19 | g.35732486C>A | CA405424649 | KMT2B | n.243C>A c.5871C>A (p.Asp1957Glu) c.3478C>A (n.3478C>A) c.1155C>A (p.Asp385Glu) n.1090C>A c.1158C>A (p.Asp386Glu) c.5479C>A c.5937C>A (p.Asp1979Glu) c.704+157C>A (n.704+157C>A) c.3259C>A c.5661C>A (p.Asp1887Glu) c.5373C>A (p.Asp1791Glu) c.2901C>A (p.Asp967Glu) | |
19 | g.35732486C>G | CA405424650 | KMT2B | n.243C>G c.5871C>G (p.Asp1957Glu) c.3478C>G (n.3478C>G) c.1155C>G (p.Asp385Glu) n.1090C>G c.1158C>G (p.Asp386Glu) c.5479C>G c.5937C>G (p.Asp1979Glu) c.704+157C>G (n.704+157C>G) c.3259C>G c.5661C>G (p.Asp1887Glu) c.5373C>G (p.Asp1791Glu) c.2901C>G (p.Asp967Glu) | gnomAD v4 |
19 | g.35732486C>T | CA507308086 | KMT2B | n.243C>T c.5871C>T (p.Asp1957=) c.3478C>T (n.3478C>T) c.1155C>T (p.Asp385=) n.1090C>T c.1158C>T (p.Asp386=) c.5479C>T c.5937C>T (p.Asp1979=) c.704+157C>T (n.704+157C>T) c.3259C>T c.5661C>T (p.Asp1887=) c.5373C>T (p.Asp1791=) c.2901C>T (p.Asp967=) | |
19 | g.35732487A= | CA2333794343 | KMT2B | n.244A= c.5872A= (p.Met1958=) c.3479A= (n.3479A=) c.1156A= (p.Met386=) n.1091A= c.1159A= (p.Met387=) c.5480A= c.5938A= (p.Met1980=) c.704+158A= (n.704+158A=) c.3260A= c.5662A= (p.Met1888=) c.5374A= (p.Met1792=) c.2902A= (p.Met968=) | |
19 | g.35732487A>C | CA405424655 | KMT2B | n.244A>C c.5872A>C (p.Met1958Leu) c.3479A>C (n.3479A>C) c.1156A>C (p.Met386Leu) n.1091A>C c.1159A>C (p.Met387Leu) c.5480A>C c.5938A>C (p.Met1980Leu) c.704+158A>C (n.704+158A>C) c.3260A>C c.5662A>C (p.Met1888Leu) c.5374A>C (p.Met1792Leu) c.2902A>C (p.Met968Leu) | |
19 | g.35732487A>G | CA9385570 | KMT2B | n.244A>G c.5872A>G (p.Met1958Val) c.3479A>G (n.3479A>G) c.1156A>G (p.Met386Val) n.1091A>G c.1159A>G (p.Met387Val) c.5480A>G c.5938A>G (p.Met1980Val) c.704+158A>G (n.704+158A>G) c.3260A>G c.5662A>G (p.Met1888Val) c.5374A>G (p.Met1792Val) c.2902A>G (p.Met968Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732487A>T | CA405424659 | KMT2B | n.244A>T c.5872A>T (p.Met1958Leu) c.3479A>T (n.3479A>T) c.1156A>T (p.Met386Leu) n.1091A>T c.1159A>T (p.Met387Leu) c.5480A>T c.5938A>T (p.Met1980Leu) c.704+158A>T (n.704+158A>T) c.3260A>T c.5662A>T (p.Met1888Leu) c.5374A>T (p.Met1792Leu) c.2902A>T (p.Met968Leu) | |
19 | g.35732488T>A | CA405424662 | KMT2B | n.245T>A c.5873T>A (p.Met1958Lys) c.3480T>A (n.3480T>A) c.1157T>A (p.Met386Lys) n.1092T>A c.1160T>A (p.Met387Lys) c.5481T>A c.5939T>A (p.Met1980Lys) c.704+159T>A (n.704+159T>A) c.3261T>A c.5663T>A (p.Met1888Lys) c.5375T>A (p.Met1792Lys) c.2903T>A (p.Met968Lys) | |
19 | g.35732488T>C | CA405424665 | KMT2B | n.245T>C c.5873T>C (p.Met1958Thr) c.3480T>C (n.3480T>C) c.1157T>C (p.Met386Thr) n.1092T>C c.1160T>C (p.Met387Thr) c.5481T>C c.5939T>C (p.Met1980Thr) c.704+159T>C (n.704+159T>C) c.3261T>C c.5663T>C (p.Met1888Thr) c.5375T>C (p.Met1792Thr) c.2903T>C (p.Met968Thr) | |
19 | g.35732488T>G | CA405424667 | KMT2B | n.245T>G c.5873T>G (p.Met1958Arg) c.3480T>G (n.3480T>G) c.1157T>G (p.Met386Arg) n.1092T>G c.1160T>G (p.Met387Arg) c.5481T>G c.5939T>G (p.Met1980Arg) c.704+159T>G (n.704+159T>G) c.3261T>G c.5663T>G (p.Met1888Arg) c.5375T>G (p.Met1792Arg) c.2903T>G (p.Met968Arg) | gnomAD v4 |
19 | g.35732489G>A | CA405424674 | KMT2B | n.246G>A c.5874G>A (p.Met1958Ile) c.3481G>A (n.3481G>A) c.1158G>A (p.Met386Ile) n.1093G>A c.1161G>A (p.Met387Ile) c.5482G>A c.5940G>A (p.Met1980Ile) c.704+160G>A (n.704+160G>A) c.3262G>A c.5664G>A (p.Met1888Ile) c.5376G>A (p.Met1792Ile) c.2904G>A (p.Met968Ile) | |
19 | g.35732489G>C | CA405424675 | KMT2B | n.246G>C c.5874G>C (p.Met1958Ile) c.3481G>C (n.3481G>C) c.1158G>C (p.Met386Ile) n.1093G>C c.1161G>C (p.Met387Ile) c.5482G>C c.5940G>C (p.Met1980Ile) c.704+160G>C (n.704+160G>C) c.3262G>C c.5664G>C (p.Met1888Ile) c.5376G>C (p.Met1792Ile) c.2904G>C (p.Met968Ile) | |
19 | g.35732489G>T | CA405424678 | KMT2B | n.246G>T c.5874G>T (p.Met1958Ile) c.3481G>T (n.3481G>T) c.1158G>T (p.Met386Ile) n.1093G>T c.1161G>T (p.Met387Ile) c.5482G>T c.5940G>T (p.Met1980Ile) c.704+160G>T (n.704+160G>T) c.3262G>T c.5664G>T (p.Met1888Ile) c.5376G>T (p.Met1792Ile) c.2904G>T (p.Met968Ile) | gnomAD v4 |
19 | g.35732491_35732493del | CA2584575157 | KMT2B | n.248_250del c.5876_5878del (p.Glu1959del) c.3483_3485del (n.3483_3485del) c.1160_1162del (p.Glu387del) n.1095_1097del c.1163_1165del (p.Glu388del) c.5484_5486del c.5942_5944del (p.Glu1981del) c.704+162_704+164del (n.704+162_704+164del) c.3264_3266del c.5666_5668del (p.Glu1889del) c.5378_5380del (p.Glu1793del) c.2906_2908del (p.Glu969del) | gnomAD v4 |
19 | g.35732490G>A | CA405424681 | KMT2B | n.247G>A c.5875G>A (p.Glu1959Lys) c.3482G>A (n.3482G>A) c.1159G>A (p.Glu387Lys) n.1094G>A c.1162G>A (p.Glu388Lys) c.5483G>A c.5941G>A (p.Glu1981Lys) c.704+161G>A (n.704+161G>A) c.3263G>A c.5665G>A (p.Glu1889Lys) c.5377G>A (p.Glu1793Lys) c.2905G>A (p.Glu969Lys) | |
19 | g.35732490G>C | CA405424684 | KMT2B | n.247G>C c.5875G>C (p.Glu1959Gln) c.3482G>C (n.3482G>C) c.1159G>C (p.Glu387Gln) n.1094G>C c.1162G>C (p.Glu388Gln) c.5483G>C c.5941G>C (p.Glu1981Gln) c.704+161G>C (n.704+161G>C) c.3263G>C c.5665G>C (p.Glu1889Gln) c.5377G>C (p.Glu1793Gln) c.2905G>C (p.Glu969Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732490G= | CA2333794344 | KMT2B | n.247G= c.5875G= (p.Glu1959=) c.3482G= (n.3482G=) c.1159G= (p.Glu387=) n.1094G= c.1162G= (p.Glu388=) c.5483G= c.5941G= (p.Glu1981=) c.704+161G= (n.704+161G=) c.3263G= c.5665G= (p.Glu1889=) c.5377G= (p.Glu1793=) c.2905G= (p.Glu969=) | |
19 | g.35732490G>T | CA405424688 | KMT2B | n.247G>T c.5875G>T (p.Glu1959Ter) c.3482G>T (n.3482G>T) c.1159G>T (p.Glu387Ter) n.1094G>T c.1162G>T (p.Glu388Ter) c.5483G>T c.5941G>T (p.Glu1981Ter) c.704+161G>T (n.704+161G>T) c.3263G>T c.5665G>T (p.Glu1889Ter) c.5377G>T (p.Glu1793Ter) c.2905G>T (p.Glu969Ter) | |
19 | g.35732491A>C | CA405424692 | KMT2B | n.248A>C c.5876A>C (p.Glu1959Ala) c.3483A>C (n.3483A>C) c.1160A>C (p.Glu387Ala) n.1095A>C c.1163A>C (p.Glu388Ala) c.5484A>C c.5942A>C (p.Glu1981Ala) c.704+162A>C (n.704+162A>C) c.3264A>C c.5666A>C (p.Glu1889Ala) c.5378A>C (p.Glu1793Ala) c.2906A>C (p.Glu969Ala) | |
19 | g.35732491A>G | CA405424698 | KMT2B | n.248A>G c.5876A>G (p.Glu1959Gly) c.3483A>G (n.3483A>G) c.1160A>G (p.Glu387Gly) n.1095A>G c.1163A>G (p.Glu388Gly) c.5484A>G c.5942A>G (p.Glu1981Gly) c.704+162A>G (n.704+162A>G) c.3264A>G c.5666A>G (p.Glu1889Gly) c.5378A>G (p.Glu1793Gly) c.2906A>G (p.Glu969Gly) | |
19 | g.35732491A>T | CA405424695 | KMT2B | n.248A>T c.5876A>T (p.Glu1959Val) c.3483A>T (n.3483A>T) c.1160A>T (p.Glu387Val) n.1095A>T c.1163A>T (p.Glu388Val) c.5484A>T c.5942A>T (p.Glu1981Val) c.704+162A>T (n.704+162A>T) c.3264A>T c.5666A>T (p.Glu1889Val) c.5378A>T (p.Glu1793Val) c.2906A>T (p.Glu969Val) | |
19 | g.35732492G>A | CA507308087 | KMT2B | n.249G>A c.5877G>A (p.Glu1959=) c.3484G>A (n.3484G>A) c.1161G>A (p.Glu387=) n.1096G>A c.1164G>A (p.Glu388=) c.5485G>A c.5943G>A (p.Glu1981=) c.704+163G>A (n.704+163G>A) c.3265G>A c.5667G>A (p.Glu1889=) c.5379G>A (p.Glu1793=) c.2907G>A (p.Glu969=) | |
19 | g.35732492G>C | CA405424701 | KMT2B | n.249G>C c.5877G>C (p.Glu1959Asp) c.3484G>C (n.3484G>C) c.1161G>C (p.Glu387Asp) n.1096G>C c.1164G>C (p.Glu388Asp) c.5485G>C c.5943G>C (p.Glu1981Asp) c.704+163G>C (n.704+163G>C) c.3265G>C c.5667G>C (p.Glu1889Asp) c.5379G>C (p.Glu1793Asp) c.2907G>C (p.Glu969Asp) | |
19 | g.35732492G>T | CA405424704 | KMT2B | n.249G>T c.5877G>T (p.Glu1959Asp) c.3484G>T (n.3484G>T) c.1161G>T (p.Glu387Asp) n.1096G>T c.1164G>T (p.Glu388Asp) c.5485G>T c.5943G>T (p.Glu1981Asp) c.704+163G>T (n.704+163G>T) c.3265G>T c.5667G>T (p.Glu1889Asp) c.5379G>T (p.Glu1793Asp) c.2907G>T (p.Glu969Asp) | |
19 | g.35732493G>A | CA405424707 | KMT2B | n.250G>A c.5878G>A (p.Val1960Met) c.3485G>A (n.3485G>A) c.1162G>A (p.Val388Met) n.1097G>A c.1165G>A (p.Val389Met) c.5486G>A c.5944G>A (p.Val1982Met) c.704+164G>A (n.704+164G>A) c.3266G>A c.5668G>A (p.Val1890Met) c.5380G>A (p.Val1794Met) c.2908G>A (p.Val970Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732493G>C | CA405424710 | KMT2B | n.250G>C c.5878G>C (p.Val1960Leu) c.3485G>C (n.3485G>C) c.1162G>C (p.Val388Leu) n.1097G>C c.1165G>C (p.Val389Leu) c.5486G>C c.5944G>C (p.Val1982Leu) c.704+164G>C (n.704+164G>C) c.3266G>C c.5668G>C (p.Val1890Leu) c.5380G>C (p.Val1794Leu) c.2908G>C (p.Val970Leu) | gnomAD v4 |
19 | g.35732493G= | CA2333794345 | KMT2B | n.250G= c.5878G= (p.Val1960=) c.3485G= (n.3485G=) c.1162G= (p.Val388=) n.1097G= c.1165G= (p.Val389=) c.5486G= c.5944G= (p.Val1982=) c.704+164G= (n.704+164G=) c.3266G= c.5668G= (p.Val1890=) c.5380G= (p.Val1794=) c.2908G= (p.Val970=) | |
19 | g.35732493G>T | CA405424712 | KMT2B | n.250G>T c.5878G>T (p.Val1960Leu) c.3485G>T (n.3485G>T) c.1162G>T (p.Val388Leu) n.1097G>T c.1165G>T (p.Val389Leu) c.5486G>T c.5944G>T (p.Val1982Leu) c.704+164G>T (n.704+164G>T) c.3266G>T c.5668G>T (p.Val1890Leu) c.5380G>T (p.Val1794Leu) c.2908G>T (p.Val970Leu) | gnomAD v4 |
19 | g.35732494T>A | CA405424715 | KMT2B | n.251T>A c.5879T>A (p.Val1960Glu) c.3486T>A (n.3486T>A) c.1163T>A (p.Val388Glu) n.1098T>A c.1166T>A (p.Val389Glu) c.5487T>A c.5945T>A (p.Val1982Glu) c.704+165T>A (n.704+165T>A) c.3267T>A c.5669T>A (p.Val1890Glu) c.5381T>A (p.Val1794Glu) c.2909T>A (p.Val970Glu) | |
19 | g.35732494T>C | CA405424717 | KMT2B | n.251T>C c.5879T>C (p.Val1960Ala) c.3486T>C (n.3486T>C) c.1163T>C (p.Val388Ala) n.1098T>C c.1166T>C (p.Val389Ala) c.5487T>C c.5945T>C (p.Val1982Ala) c.704+165T>C (n.704+165T>C) c.3267T>C c.5669T>C (p.Val1890Ala) c.5381T>C (p.Val1794Ala) c.2909T>C (p.Val970Ala) | |
19 | g.35732494T>G | CA405424720 | KMT2B | n.251T>G c.5879T>G (p.Val1960Gly) c.3486T>G (n.3486T>G) c.1163T>G (p.Val388Gly) n.1098T>G c.1166T>G (p.Val389Gly) c.5487T>G c.5945T>G (p.Val1982Gly) c.704+165T>G (n.704+165T>G) c.3267T>G c.5669T>G (p.Val1890Gly) c.5381T>G (p.Val1794Gly) c.2909T>G (p.Val970Gly) | |
19 | g.35732495G>A | CA507308088 | KMT2B | n.252G>A c.5880G>A (p.Val1960=) c.3487G>A (n.3487G>A) c.1164G>A (p.Val388=) n.1099G>A c.1167G>A (p.Val389=) c.5488G>A c.5946G>A (p.Val1982=) c.704+166G>A (n.704+166G>A) c.3268G>A c.5670G>A (p.Val1890=) c.5382G>A (p.Val1794=) c.2910G>A (p.Val970=) | |
19 | g.35732495G>C | CA507308089 | KMT2B | n.252G>C c.5880G>C (p.Val1960=) c.3487G>C (n.3487G>C) c.1164G>C (p.Val388=) n.1099G>C c.1167G>C (p.Val389=) c.5488G>C c.5946G>C (p.Val1982=) c.704+166G>C (n.704+166G>C) c.3268G>C c.5670G>C (p.Val1890=) c.5382G>C (p.Val1794=) c.2910G>C (p.Val970=) | gnomAD v4 |
19 | g.35732495G>T | CA507308090 | KMT2B | n.252G>T c.5880G>T (p.Val1960=) c.3487G>T (n.3487G>T) c.1164G>T (p.Val388=) n.1099G>T c.1167G>T (p.Val389=) c.5488G>T c.5946G>T (p.Val1982=) c.704+166G>T (n.704+166G>T) c.3268G>T c.5670G>T (p.Val1890=) c.5382G>T (p.Val1794=) c.2910G>T (p.Val970=) | |
19 | g.35732496G>A | CA405424723 | KMT2B | n.253G>A c.5881G>A (p.Val1961Met) c.3488G>A (n.3488G>A) c.1165G>A (p.Val389Met) n.1100G>A c.1168G>A (p.Val390Met) c.5489G>A c.5947G>A (p.Val1983Met) c.704+167G>A (n.704+167G>A) c.3269G>A c.5671G>A (p.Val1891Met) c.5383G>A (p.Val1795Met) c.2911G>A (p.Val971Met) | ClinVar dbSNP |
19 | g.35732496G>C | CA405424725 | KMT2B | n.253G>C c.5881G>C (p.Val1961Leu) c.3488G>C (n.3488G>C) c.1165G>C (p.Val389Leu) n.1100G>C c.1168G>C (p.Val390Leu) c.5489G>C c.5947G>C (p.Val1983Leu) c.704+167G>C (n.704+167G>C) c.3269G>C c.5671G>C (p.Val1891Leu) c.5383G>C (p.Val1795Leu) c.2911G>C (p.Val971Leu) | |
19 | g.35732496G= | CA2333794346 | KMT2B | n.253G= c.5881G= (p.Val1961=) c.3488G= (n.3488G=) c.1165G= (p.Val389=) n.1100G= c.1168G= (p.Val390=) c.5489G= c.5947G= (p.Val1983=) c.704+167G= (n.704+167G=) c.3269G= c.5671G= (p.Val1891=) c.5383G= (p.Val1795=) c.2911G= (p.Val971=) | |
19 | g.35732496G>T | CA405424727 | KMT2B | n.253G>T c.5881G>T (p.Val1961Leu) c.3488G>T (n.3488G>T) c.1165G>T (p.Val389Leu) n.1100G>T c.1168G>T (p.Val390Leu) c.5489G>T c.5947G>T (p.Val1983Leu) c.704+167G>T (n.704+167G>T) c.3269G>T c.5671G>T (p.Val1891Leu) c.5383G>T (p.Val1795Leu) c.2911G>T (p.Val971Leu) | |
19 | g.35732497T>A | CA405424730 | KMT2B | n.254T>A c.5882T>A (p.Val1961Glu) c.3489T>A (n.3489T>A) c.1166T>A (p.Val389Glu) n.1101T>A c.1169T>A (p.Val390Glu) c.5490T>A c.5948T>A (p.Val1983Glu) c.704+168T>A (n.704+168T>A) c.3270T>A c.5672T>A (p.Val1891Glu) c.5384T>A (p.Val1795Glu) c.2912T>A (p.Val971Glu) | |
19 | g.35732497T>C | CA405424732 | KMT2B | n.254T>C c.5882T>C (p.Val1961Ala) c.3489T>C (n.3489T>C) c.1166T>C (p.Val389Ala) n.1101T>C c.1169T>C (p.Val390Ala) c.5490T>C c.5948T>C (p.Val1983Ala) c.704+168T>C (n.704+168T>C) c.3270T>C c.5672T>C (p.Val1891Ala) c.5384T>C (p.Val1795Ala) c.2912T>C (p.Val971Ala) | gnomAD v4 |
19 | g.35732497T>G | CA405424734 | KMT2B | n.254T>G c.5882T>G (p.Val1961Gly) c.3489T>G (n.3489T>G) c.1166T>G (p.Val389Gly) n.1101T>G c.1169T>G (p.Val390Gly) c.5490T>G c.5948T>G (p.Val1983Gly) c.704+168T>G (n.704+168T>G) c.3270T>G c.5672T>G (p.Val1891Gly) c.5384T>G (p.Val1795Gly) c.2912T>G (p.Val971Gly) | |
19 | g.35732498G>A | CA507308091 | KMT2B | n.255G>A c.5883G>A (p.Val1961=) c.3490G>A (n.3490G>A) c.1167G>A (p.Val389=) n.1102G>A c.1170G>A (p.Val390=) c.5491G>A c.5949G>A (p.Val1983=) c.704+169G>A (n.704+169G>A) c.3271G>A c.5673G>A (p.Val1891=) c.5385G>A (p.Val1795=) c.2913G>A (p.Val971=) | |
19 | g.35732498G>C | CA507308093 | KMT2B | n.255G>C c.5883G>C (p.Val1961=) c.3490G>C (n.3490G>C) c.1167G>C (p.Val389=) n.1102G>C c.1170G>C (p.Val390=) c.5491G>C c.5949G>C (p.Val1983=) c.704+169G>C (n.704+169G>C) c.3271G>C c.5673G>C (p.Val1891=) c.5385G>C (p.Val1795=) c.2913G>C (p.Val971=) | gnomAD v4 |
19 | g.35732498G>T | CA507308092 | KMT2B | n.255G>T c.5883G>T (p.Val1961=) c.3490G>T (n.3490G>T) c.1167G>T (p.Val389=) n.1102G>T c.1170G>T (p.Val390=) c.5491G>T c.5949G>T (p.Val1983=) c.704+169G>T (n.704+169G>T) c.3271G>T c.5673G>T (p.Val1891=) c.5385G>T (p.Val1795=) c.2913G>T (p.Val971=) | |
19 | g.35732499T>A | CA405424744 | KMT2B | n.256T>A c.5884T>A (p.Ser1962Thr) c.3491T>A (n.3491T>A) c.1168T>A (p.Ser390Thr) n.1103T>A c.1171T>A (p.Ser391Thr) c.5492T>A c.5950T>A (p.Ser1984Thr) c.704+170T>A (n.704+170T>A) c.3272T>A c.5674T>A (p.Ser1892Thr) c.5386T>A (p.Ser1796Thr) c.2914T>A (p.Ser972Thr) | |
19 | g.35732499T>C | CA405424738 | KMT2B | n.256T>C c.5884T>C (p.Ser1962Pro) c.3491T>C (n.3491T>C) c.1168T>C (p.Ser390Pro) n.1103T>C c.1171T>C (p.Ser391Pro) c.5492T>C c.5950T>C (p.Ser1984Pro) c.704+170T>C (n.704+170T>C) c.3272T>C c.5674T>C (p.Ser1892Pro) c.5386T>C (p.Ser1796Pro) c.2914T>C (p.Ser972Pro) | |
19 | g.35732499T>G | CA405424742 | KMT2B | n.256T>G c.5884T>G (p.Ser1962Ala) c.3491T>G (n.3491T>G) c.1168T>G (p.Ser390Ala) n.1103T>G c.1171T>G (p.Ser391Ala) c.5492T>G c.5950T>G (p.Ser1984Ala) c.704+170T>G (n.704+170T>G) c.3272T>G c.5674T>G (p.Ser1892Ala) c.5386T>G (p.Ser1796Ala) c.2914T>G (p.Ser972Ala) | |
19 | g.35732500C>A | CA405424750 | KMT2B | n.257C>A c.5885C>A (p.Ser1962Ter) c.3492C>A (n.3492C>A) c.1169C>A (p.Ser390Ter) n.1104C>A c.1172C>A (p.Ser391Ter) c.5493C>A c.5951C>A (p.Ser1984Ter) c.704+171C>A (n.704+171C>A) c.3273C>A c.5675C>A (p.Ser1892Ter) c.5387C>A (p.Ser1796Ter) c.2915C>A (p.Ser972Ter) | |
19 | g.35732500C>G | CA405424751 | KMT2B | n.257C>G c.5885C>G (p.Ser1962Ter) c.3492C>G (n.3492C>G) c.1169C>G (p.Ser390Ter) n.1104C>G c.1172C>G (p.Ser391Ter) c.5493C>G c.5951C>G (p.Ser1984Ter) c.704+171C>G (n.704+171C>G) c.3273C>G c.5675C>G (p.Ser1892Ter) c.5387C>G (p.Ser1796Ter) c.2915C>G (p.Ser972Ter) | |
19 | g.35732500C>T | CA405424754 | KMT2B | n.257C>T c.5885C>T (p.Ser1962Leu) c.3492C>T (n.3492C>T) c.1169C>T (p.Ser390Leu) n.1104C>T c.1172C>T (p.Ser391Leu) c.5493C>T c.5951C>T (p.Ser1984Leu) c.704+171C>T (n.704+171C>T) c.3273C>T c.5675C>T (p.Ser1892Leu) c.5387C>T (p.Ser1796Leu) c.2915C>T (p.Ser972Leu) | |
19 | g.35732501A= | CA2333794347 | KMT2B | n.258A= c.5886A= (p.Ser1962=) c.3493A= (n.3493A=) c.1170A= (p.Ser390=) n.1105A= c.1173A= (p.Ser391=) c.5494A= c.5952A= (p.Ser1984=) c.704+172A= (n.704+172A=) c.3274A= c.5676A= (p.Ser1892=) c.5388A= (p.Ser1796=) c.2916A= (p.Ser972=) | |
19 | g.35732501A>C | CA507308094 | KMT2B | n.258A>C c.5886A>C (p.Ser1962=) c.3493A>C (n.3493A>C) c.1170A>C (p.Ser390=) n.1105A>C c.1173A>C (p.Ser391=) c.5494A>C c.5952A>C (p.Ser1984=) c.704+172A>C (n.704+172A>C) c.3274A>C c.5676A>C (p.Ser1892=) c.5388A>C (p.Ser1796=) c.2916A>C (p.Ser972=) | ClinVar dbSNP |
19 | g.35732501A>G | CA507308095 | KMT2B | n.258A>G c.5886A>G (p.Ser1962=) c.3493A>G (n.3493A>G) c.1170A>G (p.Ser390=) n.1105A>G c.1173A>G (p.Ser391=) c.5494A>G c.5952A>G (p.Ser1984=) c.704+172A>G (n.704+172A>G) c.3274A>G c.5676A>G (p.Ser1892=) c.5388A>G (p.Ser1796=) c.2916A>G (p.Ser972=) | gnomAD v4 |
19 | g.35732501A>T | CA507308096 | KMT2B | n.258A>T c.5886A>T (p.Ser1962=) c.3493A>T (n.3493A>T) c.1170A>T (p.Ser390=) n.1105A>T c.1173A>T (p.Ser391=) c.5494A>T c.5952A>T (p.Ser1984=) c.704+172A>T (n.704+172A>T) c.3274A>T c.5676A>T (p.Ser1892=) c.5388A>T (p.Ser1796=) c.2916A>T (p.Ser972=) | |
19 | g.35732502G>A | CA405424758 | KMT2B | n.259G>A c.5887G>A (p.Gly1963Arg) c.3494G>A (n.3494G>A) c.1171G>A (p.Gly391Arg) n.1106G>A c.1174G>A (p.Gly392Arg) c.5495G>A c.5953G>A (p.Gly1985Arg) c.704+173G>A (n.704+173G>A) c.3275G>A c.5677G>A (p.Gly1893Arg) c.5389G>A (p.Gly1797Arg) c.2917G>A (p.Gly973Arg) | dbSNP |
19 | g.35732502G>C | CA405424761 | KMT2B | n.259G>C c.5887G>C (p.Gly1963Arg) c.3494G>C (n.3494G>C) c.1171G>C (p.Gly391Arg) n.1106G>C c.1174G>C (p.Gly392Arg) c.5495G>C c.5953G>C (p.Gly1985Arg) c.704+173G>C (n.704+173G>C) c.3275G>C c.5677G>C (p.Gly1893Arg) c.5389G>C (p.Gly1797Arg) c.2917G>C (p.Gly973Arg) | |
19 | g.35732502G= | CA2333794348 | KMT2B | n.259G= c.5887G= (p.Gly1963=) c.3494G= (n.3494G=) c.1171G= (p.Gly391=) n.1106G= c.1174G= (p.Gly392=) c.5495G= c.5953G= (p.Gly1985=) c.704+173G= (n.704+173G=) c.3275G= c.5677G= (p.Gly1893=) c.5389G= (p.Gly1797=) c.2917G= (p.Gly973=) | |
19 | g.35732502G>T | CA405424763 | KMT2B | n.259G>T c.5887G>T (p.Gly1963Ter) c.3494G>T (n.3494G>T) c.1171G>T (p.Gly391Ter) n.1106G>T c.1174G>T (p.Gly392Ter) c.5495G>T c.5953G>T (p.Gly1985Ter) c.704+173G>T (n.704+173G>T) c.3275G>T c.5677G>T (p.Gly1893Ter) c.5389G>T (p.Gly1797Ter) c.2917G>T (p.Gly973Ter) | |
19 | g.35732503G>A | CA405424766 | KMT2B | n.260G>A c.5888G>A (p.Gly1963Glu) c.3495G>A (n.3495G>A) c.1172G>A (p.Gly391Glu) n.1107G>A c.1175G>A (p.Gly392Glu) c.5496G>A c.5954G>A (p.Gly1985Glu) c.704+174G>A (n.704+174G>A) c.3276G>A c.5678G>A (p.Gly1893Glu) c.5390G>A (p.Gly1797Glu) c.2918G>A (p.Gly973Glu) | ClinVar |
19 | g.35732503G>C | CA405424768 | KMT2B | n.260G>C c.5888G>C (p.Gly1963Ala) c.3495G>C (n.3495G>C) c.1172G>C (p.Gly391Ala) n.1107G>C c.1175G>C (p.Gly392Ala) c.5496G>C c.5954G>C (p.Gly1985Ala) c.704+174G>C (n.704+174G>C) c.3276G>C c.5678G>C (p.Gly1893Ala) c.5390G>C (p.Gly1797Ala) c.2918G>C (p.Gly973Ala) | COSMIC |
19 | g.35732503G>T | CA405424771 | KMT2B | n.260G>T c.5888G>T (p.Gly1963Val) c.3495G>T (n.3495G>T) c.1172G>T (p.Gly391Val) n.1107G>T c.1175G>T (p.Gly392Val) c.5496G>T c.5954G>T (p.Gly1985Val) c.704+174G>T (n.704+174G>T) c.3276G>T c.5678G>T (p.Gly1893Val) c.5390G>T (p.Gly1797Val) c.2918G>T (p.Gly973Val) | |
19 | g.35732504A= | CA2333794349 | KMT2B | n.261A= c.5889A= (p.Gly1963=) c.3496A= (n.3496A=) c.1173A= (p.Gly391=) n.1108A= c.1176A= (p.Gly392=) c.5497A= c.5955A= (p.Gly1985=) c.704+175A= (n.704+175A=) c.3277A= c.5679A= (p.Gly1893=) c.5391A= (p.Gly1797=) c.2919A= (p.Gly973=) | |
19 | g.35732504A>C | CA507308097 | KMT2B | n.261A>C c.5889A>C (p.Gly1963=) c.3496A>C (n.3496A>C) c.1173A>C (p.Gly391=) n.1108A>C c.1176A>C (p.Gly392=) c.5497A>C c.5955A>C (p.Gly1985=) c.704+175A>C (n.704+175A>C) c.3277A>C c.5679A>C (p.Gly1893=) c.5391A>C (p.Gly1797=) c.2919A>C (p.Gly973=) | |
19 | g.35732504A>G | CA507308098 | KMT2B | n.261A>G c.5889A>G (p.Gly1963=) c.3496A>G (n.3496A>G) c.1173A>G (p.Gly391=) n.1108A>G c.1176A>G (p.Gly392=) c.5497A>G c.5955A>G (p.Gly1985=) c.704+175A>G (n.704+175A>G) c.3277A>G c.5679A>G (p.Gly1893=) c.5391A>G (p.Gly1797=) c.2919A>G (p.Gly973=) | gnomAD v4 |
19 | g.35732504A>T | CA307795980 | KMT2B | n.261A>T c.5889A>T (p.Gly1963=) c.3496A>T (n.3496A>T) c.1173A>T (p.Gly391=) n.1108A>T c.1176A>T (p.Gly392=) c.5497A>T c.5955A>T (p.Gly1985=) c.704+175A>T (n.704+175A>T) c.3277A>T c.5679A>T (p.Gly1893=) c.5391A>T (p.Gly1797=) c.2919A>T (p.Gly973=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732505C>A | CA405424774 | KMT2B | n.262C>A c.5890C>A (p.Leu1964Met) c.3497C>A (n.3497C>A) c.1174C>A (p.Leu392Met) n.1109C>A c.1177C>A (p.Leu393Met) c.5498C>A c.5956C>A (p.Leu1986Met) c.704+176C>A (n.704+176C>A) c.3278C>A c.5680C>A (p.Leu1894Met) c.5392C>A (p.Leu1798Met) c.2920C>A (p.Leu974Met) | |
19 | g.35732505C>G | CA405424777 | KMT2B | n.262C>G c.5890C>G (p.Leu1964Val) c.3497C>G (n.3497C>G) c.1174C>G (p.Leu392Val) n.1109C>G c.1177C>G (p.Leu393Val) c.5498C>G c.5956C>G (p.Leu1986Val) c.704+176C>G (n.704+176C>G) c.3278C>G c.5680C>G (p.Leu1894Val) c.5392C>G (p.Leu1798Val) c.2920C>G (p.Leu974Val) | gnomAD v4 |
19 | g.35732505C>T | CA507308099 | KMT2B | n.262C>T c.5890C>T (p.Leu1964=) c.3497C>T (n.3497C>T) c.1174C>T (p.Leu392=) n.1109C>T c.1177C>T (p.Leu393=) c.5498C>T c.5956C>T (p.Leu1986=) c.704+176C>T (n.704+176C>T) c.3278C>T c.5680C>T (p.Leu1894=) c.5392C>T (p.Leu1798=) c.2920C>T (p.Leu974=) | |
19 | g.35732506T>A | CA405424784 | KMT2B | n.263T>A c.5891T>A (p.Leu1964Gln) c.3498T>A (n.3498T>A) c.1175T>A (p.Leu392Gln) n.1110T>A c.1178T>A (p.Leu393Gln) c.5499T>A c.5957T>A (p.Leu1986Gln) c.704+177T>A (n.704+177T>A) c.3279T>A c.5681T>A (p.Leu1894Gln) c.5393T>A (p.Leu1798Gln) c.2921T>A (p.Leu974Gln) | |
19 | g.35732506T>C | CA405424788 | KMT2B | n.263T>C c.5891T>C (p.Leu1964Pro) c.3498T>C (n.3498T>C) c.1175T>C (p.Leu392Pro) n.1110T>C c.1178T>C (p.Leu393Pro) c.5499T>C c.5957T>C (p.Leu1986Pro) c.704+177T>C (n.704+177T>C) c.3279T>C c.5681T>C (p.Leu1894Pro) c.5393T>C (p.Leu1798Pro) c.2921T>C (p.Leu974Pro) | |
19 | g.35732506T>G | CA405424780 | KMT2B | n.263T>G c.5891T>G (p.Leu1964Arg) c.3498T>G (n.3498T>G) c.1175T>G (p.Leu392Arg) n.1110T>G c.1178T>G (p.Leu393Arg) c.5499T>G c.5957T>G (p.Leu1986Arg) c.704+177T>G (n.704+177T>G) c.3279T>G c.5681T>G (p.Leu1894Arg) c.5393T>G (p.Leu1798Arg) c.2921T>G (p.Leu974Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732506T= | CA2333794350 | KMT2B | n.263T= c.5891T= (p.Leu1964=) c.3498T= (n.3498T=) c.1175T= (p.Leu392=) n.1110T= c.1178T= (p.Leu393=) c.5499T= c.5957T= (p.Leu1986=) c.704+177T= (n.704+177T=) c.3279T= c.5681T= (p.Leu1894=) c.5393T= (p.Leu1798=) c.2921T= (p.Leu974=) | |
19 | g.35732507G>A | CA507308100 | KMT2B | n.264G>A c.5892G>A (p.Leu1964=) c.3499G>A (n.3499G>A) c.1176G>A (p.Leu392=) n.1111G>A c.1179G>A (p.Leu393=) c.5500G>A c.5958G>A (p.Leu1986=) c.704+178G>A (n.704+178G>A) c.3280G>A c.5682G>A (p.Leu1894=) c.5394G>A (p.Leu1798=) c.2922G>A (p.Leu974=) | |
19 | g.35732507G>C | CA507308101 | KMT2B | n.264G>C c.5892G>C (p.Leu1964=) c.3499G>C (n.3499G>C) c.1176G>C (p.Leu392=) n.1111G>C c.1179G>C (p.Leu393=) c.5500G>C c.5958G>C (p.Leu1986=) c.704+178G>C (n.704+178G>C) c.3280G>C c.5682G>C (p.Leu1894=) c.5394G>C (p.Leu1798=) c.2922G>C (p.Leu974=) | |
19 | g.35732507G>T | CA507308102 | KMT2B | n.264G>T c.5892G>T (p.Leu1964=) c.3499G>T (n.3499G>T) c.1176G>T (p.Leu392=) n.1111G>T c.1179G>T (p.Leu393=) c.5500G>T c.5958G>T (p.Leu1986=) c.704+178G>T (n.704+178G>T) c.3280G>T c.5682G>T (p.Leu1894=) c.5394G>T (p.Leu1798=) c.2922G>T (p.Leu974=) | |
19 | g.35732508A>C | CA405424792 | KMT2B | n.265A>C c.5893A>C (p.Ser1965Arg) c.3500A>C (n.3500A>C) c.1177A>C (p.Ser393Arg) n.1112A>C c.1180A>C (p.Ser394Arg) c.5501A>C c.5959A>C (p.Ser1987Arg) c.704+179A>C (n.704+179A>C) c.3281A>C c.5683A>C (p.Ser1895Arg) c.5395A>C (p.Ser1799Arg) c.2923A>C (p.Ser975Arg) | gnomAD v4 |
19 | g.35732508A>G | CA405424794 | KMT2B | n.265A>G c.5893A>G (p.Ser1965Gly) c.3500A>G (n.3500A>G) c.1177A>G (p.Ser393Gly) n.1112A>G c.1180A>G (p.Ser394Gly) c.5501A>G c.5959A>G (p.Ser1987Gly) c.704+179A>G (n.704+179A>G) c.3281A>G c.5683A>G (p.Ser1895Gly) c.5395A>G (p.Ser1799Gly) c.2923A>G (p.Ser975Gly) | |
19 | g.35732508A>T | CA405424798 | KMT2B | n.265A>T c.5893A>T (p.Ser1965Cys) c.3500A>T (n.3500A>T) c.1177A>T (p.Ser393Cys) n.1112A>T c.1180A>T (p.Ser394Cys) c.5501A>T c.5959A>T (p.Ser1987Cys) c.704+179A>T (n.704+179A>T) c.3281A>T c.5683A>T (p.Ser1895Cys) c.5395A>T (p.Ser1799Cys) c.2923A>T (p.Ser975Cys) | |
19 | g.35732509G>A | CA405424803 | KMT2B | n.266G>A c.5894G>A (p.Ser1965Asn) c.3501G>A (n.3501G>A) c.1178G>A (p.Ser393Asn) n.1113G>A c.1181G>A (p.Ser394Asn) c.5502G>A c.5960G>A (p.Ser1987Asn) c.704+180G>A (n.704+180G>A) c.3282G>A c.5684G>A (p.Ser1895Asn) c.5396G>A (p.Ser1799Asn) c.2924G>A (p.Ser975Asn) | gnomAD v4 |
19 | g.35732509G>C | CA405424807 | KMT2B | n.266G>C c.5894G>C (p.Ser1965Thr) c.3501G>C (n.3501G>C) c.1178G>C (p.Ser393Thr) n.1113G>C c.1181G>C (p.Ser394Thr) c.5502G>C c.5960G>C (p.Ser1987Thr) c.704+180G>C (n.704+180G>C) c.3282G>C c.5684G>C (p.Ser1895Thr) c.5396G>C (p.Ser1799Thr) c.2924G>C (p.Ser975Thr) | |
19 | g.35732509G>T | CA405424810 | KMT2B | n.266G>T c.5894G>T (p.Ser1965Ile) c.3501G>T (n.3501G>T) c.1178G>T (p.Ser393Ile) n.1113G>T c.1181G>T (p.Ser394Ile) c.5502G>T c.5960G>T (p.Ser1987Ile) c.704+180G>T (n.704+180G>T) c.3282G>T c.5684G>T (p.Ser1895Ile) c.5396G>T (p.Ser1799Ile) c.2924G>T (p.Ser975Ile) | |
19 | g.35732510T>A | CA405424817 | KMT2B | n.267T>A c.5895T>A (p.Ser1965Arg) c.3502T>A (n.3502T>A) c.1179T>A (p.Ser393Arg) n.1114T>A c.1182T>A (p.Ser394Arg) c.5503T>A c.5961T>A (p.Ser1987Arg) c.704+181T>A (n.704+181T>A) c.3283T>A c.5685T>A (p.Ser1895Arg) c.5397T>A (p.Ser1799Arg) c.2925T>A (p.Ser975Arg) | |
19 | g.35732510T>C | CA507308103 | KMT2B | n.267T>C c.5895T>C (p.Ser1965=) c.3502T>C (n.3502T>C) c.1179T>C (p.Ser393=) n.1114T>C c.1182T>C (p.Ser394=) c.5503T>C c.5961T>C (p.Ser1987=) c.704+181T>C (n.704+181T>C) c.3283T>C c.5685T>C (p.Ser1895=) c.5397T>C (p.Ser1799=) c.2925T>C (p.Ser975=) | |
19 | g.35732510T>G | CA405424820 | KMT2B | n.267T>G c.5895T>G (p.Ser1965Arg) c.3502T>G (n.3502T>G) c.1179T>G (p.Ser393Arg) n.1114T>G c.1182T>G (p.Ser394Arg) c.5503T>G c.5961T>G (p.Ser1987Arg) c.704+181T>G (n.704+181T>G) c.3283T>G c.5685T>G (p.Ser1895Arg) c.5397T>G (p.Ser1799Arg) c.2925T>G (p.Ser975Arg) | |
19 | g.35732511G>A | CA405424821 | KMT2B | n.268G>A c.5896G>A (p.Ala1966Thr) c.3503G>A (n.3503G>A) c.1180G>A (p.Ala394Thr) n.1115G>A c.1183G>A (p.Ala395Thr) c.5504G>A c.5962G>A (p.Ala1988Thr) c.704+182G>A (n.704+182G>A) c.3284G>A c.5686G>A (p.Ala1896Thr) c.5398G>A (p.Ala1800Thr) c.2926G>A (p.Ala976Thr) | |
19 | g.35732511G>C | CA405424822 | KMT2B | n.268G>C c.5896G>C (p.Ala1966Pro) c.3503G>C (n.3503G>C) c.1180G>C (p.Ala394Pro) n.1115G>C c.1183G>C (p.Ala395Pro) c.5504G>C c.5962G>C (p.Ala1988Pro) c.704+182G>C (n.704+182G>C) c.3284G>C c.5686G>C (p.Ala1896Pro) c.5398G>C (p.Ala1800Pro) c.2926G>C (p.Ala976Pro) | |
19 | g.35732511G>T | CA405424823 | KMT2B | n.268G>T c.5896G>T (p.Ala1966Ser) c.3503G>T (n.3503G>T) c.1180G>T (p.Ala394Ser) n.1115G>T c.1183G>T (p.Ala395Ser) c.5504G>T c.5962G>T (p.Ala1988Ser) c.704+182G>T (n.704+182G>T) c.3284G>T c.5686G>T (p.Ala1896Ser) c.5398G>T (p.Ala1800Ser) c.2926G>T (p.Ala976Ser) | gnomAD v4 |
19 | g.35732512C>A | CA405424824 | KMT2B | n.269C>A c.5897C>A (p.Ala1966Asp) c.3504C>A (n.3504C>A) c.1181C>A (p.Ala394Asp) n.1116C>A c.1184C>A (p.Ala395Asp) c.5505C>A c.5963C>A (p.Ala1988Asp) c.704+183C>A (n.704+183C>A) c.3285C>A c.5687C>A (p.Ala1896Asp) c.5399C>A (p.Ala1800Asp) c.2927C>A (p.Ala976Asp) | |
19 | g.35732512C>G | CA405424827 | KMT2B | n.269C>G c.5897C>G (p.Ala1966Gly) c.3504C>G (n.3504C>G) c.1181C>G (p.Ala394Gly) n.1116C>G c.1184C>G (p.Ala395Gly) c.5505C>G c.5963C>G (p.Ala1988Gly) c.704+183C>G (n.704+183C>G) c.3285C>G c.5687C>G (p.Ala1896Gly) c.5399C>G (p.Ala1800Gly) c.2927C>G (p.Ala976Gly) | |
19 | g.35732512C>T | CA405424828 | KMT2B | n.269C>T c.5897C>T (p.Ala1966Val) c.3504C>T (n.3504C>T) c.1181C>T (p.Ala394Val) n.1116C>T c.1184C>T (p.Ala395Val) c.5505C>T c.5963C>T (p.Ala1988Val) c.704+183C>T (n.704+183C>T) c.3285C>T c.5687C>T (p.Ala1896Val) c.5399C>T (p.Ala1800Val) c.2927C>T (p.Ala976Val) | ClinVar |
19 | g.35732513T>A | CA507308104 | KMT2B | n.270T>A c.5898T>A (p.Ala1966=) c.3505T>A (n.3505T>A) c.1182T>A (p.Ala394=) n.1117T>A c.1185T>A (p.Ala395=) c.5506T>A c.5964T>A (p.Ala1988=) c.704+184T>A (n.704+184T>A) c.3286T>A c.5688T>A (p.Ala1896=) c.5400T>A (p.Ala1800=) c.2928T>A (p.Ala976=) | |
19 | g.35732513T>C | CA9385571 | KMT2B | n.270T>C c.5898T>C (p.Ala1966=) c.3505T>C (n.3505T>C) c.1182T>C (p.Ala394=) n.1117T>C c.1185T>C (p.Ala395=) c.5506T>C c.5964T>C (p.Ala1988=) c.704+184T>C (n.704+184T>C) c.3286T>C c.5688T>C (p.Ala1896=) c.5400T>C (p.Ala1800=) c.2928T>C (p.Ala976=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732513T>G | CA507308105 | KMT2B | n.270T>G c.5898T>G (p.Ala1966=) c.3505T>G (n.3505T>G) c.1182T>G (p.Ala394=) n.1117T>G c.1185T>G (p.Ala395=) c.5506T>G c.5964T>G (p.Ala1988=) c.704+184T>G (n.704+184T>G) c.3286T>G c.5688T>G (p.Ala1896=) c.5400T>G (p.Ala1800=) c.2928T>G (p.Ala976=) | |
19 | g.35732513T= | CA2333794351 | KMT2B | n.270T= c.5898T= (p.Ala1966=) c.3505T= (n.3505T=) c.1182T= (p.Ala394=) n.1117T= c.1185T= (p.Ala395=) c.5506T= c.5964T= (p.Ala1988=) c.704+184T= (n.704+184T=) c.3286T= c.5688T= (p.Ala1896=) c.5400T= (p.Ala1800=) c.2928T= (p.Ala976=) | |
19 | g.35732514G>A | CA405424838 | KMT2B | n.271G>A c.5899G>A (p.Ala1967Thr) c.3506G>A (n.3506G>A) c.1183G>A (p.Ala395Thr) n.1118G>A c.1186G>A (p.Ala396Thr) c.5507G>A c.5965G>A (p.Ala1989Thr) c.704+185G>A (n.704+185G>A) c.3287G>A c.5689G>A (p.Ala1897Thr) c.5401G>A (p.Ala1801Thr) c.2929G>A (p.Ala977Thr) | COSMIC |
19 | g.35732514G>C | CA405424840 | KMT2B | n.271G>C c.5899G>C (p.Ala1967Pro) c.3506G>C (n.3506G>C) c.1183G>C (p.Ala395Pro) n.1118G>C c.1186G>C (p.Ala396Pro) c.5507G>C c.5965G>C (p.Ala1989Pro) c.704+185G>C (n.704+185G>C) c.3287G>C c.5689G>C (p.Ala1897Pro) c.5401G>C (p.Ala1801Pro) c.2929G>C (p.Ala977Pro) | |
19 | g.35732514G>T | CA405424843 | KMT2B | n.271G>T c.5899G>T (p.Ala1967Ser) c.3506G>T (n.3506G>T) c.1183G>T (p.Ala395Ser) n.1118G>T c.1186G>T (p.Ala396Ser) c.5507G>T c.5965G>T (p.Ala1989Ser) c.704+185G>T (n.704+185G>T) c.3287G>T c.5689G>T (p.Ala1897Ser) c.5401G>T (p.Ala1801Ser) c.2929G>T (p.Ala977Ser) | |
19 | g.35732515C>A | CA405424845 | KMT2B | n.272C>A c.5900C>A (p.Ala1967Asp) c.3507C>A (n.3507C>A) c.1184C>A (p.Ala395Asp) n.1119C>A c.1187C>A (p.Ala396Asp) c.5508C>A c.5966C>A (p.Ala1989Asp) c.704+186C>A (n.704+186C>A) c.3288C>A c.5690C>A (p.Ala1897Asp) c.5402C>A (p.Ala1801Asp) c.2930C>A (p.Ala977Asp) | |
19 | g.35732515C>G | CA405424852 | KMT2B | n.272C>G c.5900C>G (p.Ala1967Gly) c.3507C>G (n.3507C>G) c.1184C>G (p.Ala395Gly) n.1119C>G c.1187C>G (p.Ala396Gly) c.5508C>G c.5966C>G (p.Ala1989Gly) c.704+186C>G (n.704+186C>G) c.3288C>G c.5690C>G (p.Ala1897Gly) c.5402C>G (p.Ala1801Gly) c.2930C>G (p.Ala977Gly) | |
19 | g.35732515C>T | CA405424854 | KMT2B | n.272C>T c.5900C>T (p.Ala1967Val) c.3507C>T (n.3507C>T) c.1184C>T (p.Ala395Val) n.1119C>T c.1187C>T (p.Ala396Val) c.5508C>T c.5966C>T (p.Ala1989Val) c.704+186C>T (n.704+186C>T) c.3288C>T c.5690C>T (p.Ala1897Val) c.5402C>T (p.Ala1801Val) c.2930C>T (p.Ala977Val) | |
19 | g.35732516T>A | CA507308106 | KMT2B | n.273T>A c.5901T>A (p.Ala1967=) c.3508T>A (n.3508T>A) c.1185T>A (p.Ala395=) n.1120T>A c.1188T>A (p.Ala396=) c.5509T>A c.5967T>A (p.Ala1989=) c.704+187T>A (n.704+187T>A) c.3289T>A c.5691T>A (p.Ala1897=) c.5403T>A (p.Ala1801=) c.2931T>A (p.Ala977=) | |
19 | g.35732516T>C | CA507308107 | KMT2B | n.273T>C c.5901T>C (p.Ala1967=) c.3508T>C (n.3508T>C) c.1185T>C (p.Ala395=) n.1120T>C c.1188T>C (p.Ala396=) c.5509T>C c.5967T>C (p.Ala1989=) c.704+187T>C (n.704+187T>C) c.3289T>C c.5691T>C (p.Ala1897=) c.5403T>C (p.Ala1801=) c.2931T>C (p.Ala977=) | |
19 | g.35732516T>G | CA507308108 | KMT2B | n.273T>G c.5901T>G (p.Ala1967=) c.3508T>G (n.3508T>G) c.1185T>G (p.Ala395=) n.1120T>G c.1188T>G (p.Ala396=) c.5509T>G c.5967T>G (p.Ala1989=) c.704+187T>G (n.704+187T>G) c.3289T>G c.5691T>G (p.Ala1897=) c.5403T>G (p.Ala1801=) c.2931T>G (p.Ala977=) | |
19 | g.35732517G>A | CA405424858 | KMT2B | n.274G>A c.5902G>A (p.Asp1968Asn) c.3509G>A (n.3509G>A) c.1186G>A (p.Asp396Asn) n.1121G>A c.1189G>A (p.Asp397Asn) c.5510G>A c.5968G>A (p.Asp1990Asn) c.704+188G>A (n.704+188G>A) c.3290G>A c.5692G>A (p.Asp1898Asn) c.5404G>A (p.Asp1802Asn) c.2932G>A (p.Asp978Asn) | |
19 | g.35732517G>C | CA405424862 | KMT2B | n.274G>C c.5902G>C (p.Asp1968His) c.3509G>C (n.3509G>C) c.1186G>C (p.Asp396His) n.1121G>C c.1189G>C (p.Asp397His) c.5510G>C c.5968G>C (p.Asp1990His) c.704+188G>C (n.704+188G>C) c.3290G>C c.5692G>C (p.Asp1898His) c.5404G>C (p.Asp1802His) c.2932G>C (p.Asp978His) | |
19 | g.35732517G>T | CA405424863 | KMT2B | n.274G>T c.5902G>T (p.Asp1968Tyr) c.3509G>T (n.3509G>T) c.1186G>T (p.Asp396Tyr) n.1121G>T c.1189G>T (p.Asp397Tyr) c.5510G>T c.5968G>T (p.Asp1990Tyr) c.704+188G>T (n.704+188G>T) c.3290G>T c.5692G>T (p.Asp1898Tyr) c.5404G>T (p.Asp1802Tyr) c.2932G>T (p.Asp978Tyr) | |
19 | g.35732518A>C | CA405424870 | KMT2B | n.275A>C c.5903A>C (p.Asp1968Ala) c.3510A>C (n.3510A>C) c.1187A>C (p.Asp396Ala) n.1122A>C c.1190A>C (p.Asp397Ala) c.5511A>C c.5969A>C (p.Asp1990Ala) c.704+189A>C (n.704+189A>C) c.3291A>C c.5693A>C (p.Asp1898Ala) c.5405A>C (p.Asp1802Ala) c.2933A>C (p.Asp978Ala) | |
19 | g.35732518A>G | CA405424875 | KMT2B | n.275A>G c.5903A>G (p.Asp1968Gly) c.3510A>G (n.3510A>G) c.1187A>G (p.Asp396Gly) n.1122A>G c.1190A>G (p.Asp397Gly) c.5511A>G c.5969A>G (p.Asp1990Gly) c.704+189A>G (n.704+189A>G) c.3291A>G c.5693A>G (p.Asp1898Gly) c.5405A>G (p.Asp1802Gly) c.2933A>G (p.Asp978Gly) | |
19 | g.35732518A>T | CA405424877 | KMT2B | n.275A>T c.5903A>T (p.Asp1968Val) c.3510A>T (n.3510A>T) c.1187A>T (p.Asp396Val) n.1122A>T c.1190A>T (p.Asp397Val) c.5511A>T c.5969A>T (p.Asp1990Val) c.704+189A>T (n.704+189A>T) c.3291A>T c.5693A>T (p.Asp1898Val) c.5405A>T (p.Asp1802Val) c.2933A>T (p.Asp978Val) | |
19 | g.35732519C>A | CA405424881 | KMT2B | n.276C>A c.5904C>A (p.Asp1968Glu) c.3511C>A (n.3511C>A) c.1188C>A (p.Asp396Glu) n.1123C>A c.1191C>A (p.Asp397Glu) c.5512C>A c.5970C>A (p.Asp1990Glu) c.704+190C>A (n.704+190C>A) c.3292C>A c.5694C>A (p.Asp1898Glu) c.5406C>A (p.Asp1802Glu) c.2934C>A (p.Asp978Glu) | |
19 | g.35732519C= | CA2333794352 | KMT2B | n.276C= c.5904C= (p.Asp1968=) c.3511C= (n.3511C=) c.1188C= (p.Asp396=) n.1123C= c.1191C= (p.Asp397=) c.5512C= c.5970C= (p.Asp1990=) c.704+190C= (n.704+190C=) c.3292C= c.5694C= (p.Asp1898=) c.5406C= (p.Asp1802=) c.2934C= (p.Asp978=) | |
19 | g.35732519C>G | CA405424884 | KMT2B | n.276C>G c.5904C>G (p.Asp1968Glu) c.3511C>G (n.3511C>G) c.1188C>G (p.Asp396Glu) n.1123C>G c.1191C>G (p.Asp397Glu) c.5512C>G c.5970C>G (p.Asp1990Glu) c.704+190C>G (n.704+190C>G) c.3292C>G c.5694C>G (p.Asp1898Glu) c.5406C>G (p.Asp1802Glu) c.2934C>G (p.Asp978Glu) | |
19 | g.35732519C>T | CA507308109 | KMT2B | n.276C>T c.5904C>T (p.Asp1968=) c.3511C>T (n.3511C>T) c.1188C>T (p.Asp396=) n.1123C>T c.1191C>T (p.Asp397=) c.5512C>T c.5970C>T (p.Asp1990=) c.704+190C>T (n.704+190C>T) c.3292C>T c.5694C>T (p.Asp1898=) c.5406C>T (p.Asp1802=) c.2934C>T (p.Asp978=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732520C>A | CA405424888 | KMT2B | n.277C>A c.5905C>A (p.Leu1969Met) c.3512C>A (n.3512C>A) c.1189C>A (p.Leu397Met) n.1124C>A c.1192C>A (p.Leu398Met) c.5513C>A c.5971C>A (p.Leu1991Met) c.704+191C>A (n.704+191C>A) c.3293C>A c.5695C>A (p.Leu1899Met) c.5407C>A (p.Leu1803Met) c.2935C>A (p.Leu979Met) | |
19 | g.35732520C= | CA2333794353 | KMT2B | n.277C= c.5905C= (p.Leu1969=) c.3512C= (n.3512C=) c.1189C= (p.Leu397=) n.1124C= c.1192C= (p.Leu398=) c.5513C= c.5971C= (p.Leu1991=) c.704+191C= (n.704+191C=) c.3293C= c.5695C= (p.Leu1899=) c.5407C= (p.Leu1803=) c.2935C= (p.Leu979=) | |
19 | g.35732520C>G | CA405424886 | KMT2B | n.277C>G c.5905C>G (p.Leu1969Val) c.3512C>G (n.3512C>G) c.1189C>G (p.Leu397Val) n.1124C>G c.1192C>G (p.Leu398Val) c.5513C>G c.5971C>G (p.Leu1991Val) c.704+191C>G (n.704+191C>G) c.3293C>G c.5695C>G (p.Leu1899Val) c.5407C>G (p.Leu1803Val) c.2935C>G (p.Leu979Val) | |
19 | g.35732520C>T | CA507308110 | KMT2B | n.277C>T c.5905C>T (p.Leu1969=) c.3512C>T (n.3512C>T) c.1189C>T (p.Leu397=) n.1124C>T c.1192C>T (p.Leu398=) c.5513C>T c.5971C>T (p.Leu1991=) c.704+191C>T (n.704+191C>T) c.3293C>T c.5695C>T (p.Leu1899=) c.5407C>T (p.Leu1803=) c.2935C>T (p.Leu979=) | dbSNP gnomAD v2 |
19 | g.35732521T>A | CA405424891 | KMT2B | n.278T>A c.5906T>A (p.Leu1969Gln) c.3513T>A (n.3513T>A) c.1190T>A (p.Leu397Gln) n.1125T>A c.1193T>A (p.Leu398Gln) c.5514T>A c.5972T>A (p.Leu1991Gln) c.704+192T>A (n.704+192T>A) c.3294T>A c.5696T>A (p.Leu1899Gln) c.5408T>A (p.Leu1803Gln) c.2936T>A (p.Leu979Gln) | |
19 | g.35732521T>C | CA405424897 | KMT2B | n.278T>C c.5906T>C (p.Leu1969Pro) c.3513T>C (n.3513T>C) c.1190T>C (p.Leu397Pro) n.1125T>C c.1193T>C (p.Leu398Pro) c.5514T>C c.5972T>C (p.Leu1991Pro) c.704+192T>C (n.704+192T>C) c.3294T>C c.5696T>C (p.Leu1899Pro) c.5408T>C (p.Leu1803Pro) c.2936T>C (p.Leu979Pro) | |
19 | g.35732521T>G | CA405424894 | KMT2B | n.278T>G c.5906T>G (p.Leu1969Arg) c.3513T>G (n.3513T>G) c.1190T>G (p.Leu397Arg) n.1125T>G c.1193T>G (p.Leu398Arg) c.5514T>G c.5972T>G (p.Leu1991Arg) c.704+192T>G (n.704+192T>G) c.3294T>G c.5696T>G (p.Leu1899Arg) c.5408T>G (p.Leu1803Arg) c.2936T>G (p.Leu979Arg) | |
19 | g.35732522G>A | CA9385572 | KMT2B | n.279G>A c.5907G>A (p.Leu1969=) c.3514G>A (n.3514G>A) c.1191G>A (p.Leu397=) n.1126G>A c.1194G>A (p.Leu398=) c.5515G>A c.5973G>A (p.Leu1991=) c.704+193G>A (n.704+193G>A) c.3295G>A c.5697G>A (p.Leu1899=) c.5409G>A (p.Leu1803=) c.2937G>A (p.Leu979=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732522G>C | CA507308111 | KMT2B | n.279G>C c.5907G>C (p.Leu1969=) c.3514G>C (n.3514G>C) c.1191G>C (p.Leu397=) n.1126G>C c.1194G>C (p.Leu398=) c.5515G>C c.5973G>C (p.Leu1991=) c.704+193G>C (n.704+193G>C) c.3295G>C c.5697G>C (p.Leu1899=) c.5409G>C (p.Leu1803=) c.2937G>C (p.Leu979=) | |
19 | g.35732522G= | CA2333794354 | KMT2B | n.279G= c.5907G= (p.Leu1969=) c.3514G= (n.3514G=) c.1191G= (p.Leu397=) n.1126G= c.1194G= (p.Leu398=) c.5515G= c.5973G= (p.Leu1991=) c.704+193G= (n.704+193G=) c.3295G= c.5697G= (p.Leu1899=) c.5409G= (p.Leu1803=) c.2937G= (p.Leu979=) | |
19 | g.35732522G>T | CA507308112 | KMT2B | n.279G>T c.5907G>T (p.Leu1969=) c.3514G>T (n.3514G>T) c.1191G>T (p.Leu397=) n.1126G>T c.1194G>T (p.Leu398=) c.5515G>T c.5973G>T (p.Leu1991=) c.704+193G>T (n.704+193G>T) c.3295G>T c.5697G>T (p.Leu1899=) c.5409G>T (p.Leu1803=) c.2937G>T (p.Leu979=) | |
19 | g.35732523G>A | CA9385573 | KMT2B | n.280G>A c.5908G>A (p.Asp1970Asn) c.3515G>A (n.3515G>A) c.1192G>A (p.Asp398Asn) n.1127G>A c.1195G>A (p.Asp399Asn) c.5516G>A c.5974G>A (p.Asp1992Asn) c.704+194G>A (n.704+194G>A) c.3296G>A c.5698G>A (p.Asp1900Asn) c.5410G>A (p.Asp1804Asn) c.2938G>A (p.Asp980Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732523G>C | CA405424912 | KMT2B | n.280G>C c.5908G>C (p.Asp1970His) c.3515G>C (n.3515G>C) c.1192G>C (p.Asp398His) n.1127G>C c.1195G>C (p.Asp399His) c.5516G>C c.5974G>C (p.Asp1992His) c.704+194G>C (n.704+194G>C) c.3296G>C c.5698G>C (p.Asp1900His) c.5410G>C (p.Asp1804His) c.2938G>C (p.Asp980His) | dbSNP |
19 | g.35732523G= | CA2333794355 | KMT2B | n.280G= c.5908G= (p.Asp1970=) c.3515G= (n.3515G=) c.1192G= (p.Asp398=) n.1127G= c.1195G= (p.Asp399=) c.5516G= c.5974G= (p.Asp1992=) c.704+194G= (n.704+194G=) c.3296G= c.5698G= (p.Asp1900=) c.5410G= (p.Asp1804=) c.2938G= (p.Asp980=) | |
19 | g.35732523G>T | CA405424915 | KMT2B | n.280G>T c.5908G>T (p.Asp1970Tyr) c.3515G>T (n.3515G>T) c.1192G>T (p.Asp398Tyr) n.1127G>T c.1195G>T (p.Asp399Tyr) c.5516G>T c.5974G>T (p.Asp1992Tyr) c.704+194G>T (n.704+194G>T) c.3296G>T c.5698G>T (p.Asp1900Tyr) c.5410G>T (p.Asp1804Tyr) c.2938G>T (p.Asp980Tyr) | ClinVar dbSNP |
19 | g.35732524A>C | CA405424919 | KMT2B | n.281A>C c.5909A>C (p.Asp1970Ala) c.3516A>C (n.3516A>C) c.1193A>C (p.Asp398Ala) n.1128A>C c.1196A>C (p.Asp399Ala) c.5517A>C c.5975A>C (p.Asp1992Ala) c.704+195A>C (n.704+195A>C) c.3297A>C c.5699A>C (p.Asp1900Ala) c.5411A>C (p.Asp1804Ala) c.2939A>C (p.Asp980Ala) | |
19 | g.35732524A>G | CA405424922 | KMT2B | n.281A>G c.5909A>G (p.Asp1970Gly) c.3516A>G (n.3516A>G) c.1193A>G (p.Asp398Gly) n.1128A>G c.1196A>G (p.Asp399Gly) c.5517A>G c.5975A>G (p.Asp1992Gly) c.704+195A>G (n.704+195A>G) c.3297A>G c.5699A>G (p.Asp1900Gly) c.5411A>G (p.Asp1804Gly) c.2939A>G (p.Asp980Gly) | |
19 | g.35732524A>T | CA405424925 | KMT2B | n.281A>T c.5909A>T (p.Asp1970Val) c.3516A>T (n.3516A>T) c.1193A>T (p.Asp398Val) n.1128A>T c.1196A>T (p.Asp399Val) c.5517A>T c.5975A>T (p.Asp1992Val) c.704+195A>T (n.704+195A>T) c.3297A>T c.5699A>T (p.Asp1900Val) c.5411A>T (p.Asp1804Val) c.2939A>T (p.Asp980Val) | |
19 | g.35732525C>A | CA405424929 | KMT2B | n.282C>A c.5910C>A (p.Asp1970Glu) c.3517C>A (n.3517C>A) c.1194C>A (p.Asp398Glu) n.1129C>A c.1197C>A (p.Asp399Glu) c.5518C>A c.5976C>A (p.Asp1992Glu) c.704+196C>A (n.704+196C>A) c.3298C>A c.5700C>A (p.Asp1900Glu) c.5412C>A (p.Asp1804Glu) c.2940C>A (p.Asp980Glu) | |
19 | g.35732525C= | CA2333794356 | KMT2B | n.282C= c.5910C= (p.Asp1970=) c.3517C= (n.3517C=) c.1194C= (p.Asp398=) n.1129C= c.1197C= (p.Asp399=) c.5518C= c.5976C= (p.Asp1992=) c.704+196C= (n.704+196C=) c.3298C= c.5700C= (p.Asp1900=) c.5412C= (p.Asp1804=) c.2940C= (p.Asp980=) | |
19 | g.35732525C>G | CA405424927 | KMT2B | n.282C>G c.5910C>G (p.Asp1970Glu) c.3517C>G (n.3517C>G) c.1194C>G (p.Asp398Glu) n.1129C>G c.1197C>G (p.Asp399Glu) c.5518C>G c.5976C>G (p.Asp1992Glu) c.704+196C>G (n.704+196C>G) c.3298C>G c.5700C>G (p.Asp1900Glu) c.5412C>G (p.Asp1804Glu) c.2940C>G (p.Asp980Glu) | |
19 | g.35732525C>T | CA507308113 | KMT2B | n.282C>T c.5910C>T (p.Asp1970=) c.3517C>T (n.3517C>T) c.1194C>T (p.Asp398=) n.1129C>T c.1197C>T (p.Asp399=) c.5518C>T c.5976C>T (p.Asp1992=) c.704+196C>T (n.704+196C>T) c.3298C>T c.5700C>T (p.Asp1900=) c.5412C>T (p.Asp1804=) c.2940C>T (p.Asp980=) | dbSNP |
19 | g.35732526T>A | CA405424933 | KMT2B | n.283T>A c.5911T>A (p.Phe1971Ile) c.3518T>A (n.3518T>A) c.1195T>A (p.Phe399Ile) n.1130T>A c.1198T>A (p.Phe400Ile) c.5519T>A c.5977T>A (p.Phe1993Ile) c.704+197T>A (n.704+197T>A) c.3299T>A c.5701T>A (p.Phe1901Ile) c.5413T>A (p.Phe1805Ile) c.2941T>A (p.Phe981Ile) | |
19 | g.35732526T>C | CA405424935 | KMT2B | n.283T>C c.5911T>C (p.Phe1971Leu) c.3518T>C (n.3518T>C) c.1195T>C (p.Phe399Leu) n.1130T>C c.1198T>C (p.Phe400Leu) c.5519T>C c.5977T>C (p.Phe1993Leu) c.704+197T>C (n.704+197T>C) c.3299T>C c.5701T>C (p.Phe1901Leu) c.5413T>C (p.Phe1805Leu) c.2941T>C (p.Phe981Leu) | |
19 | g.35732526T>G | CA405424938 | KMT2B | n.283T>G c.5911T>G (p.Phe1971Val) c.3518T>G (n.3518T>G) c.1195T>G (p.Phe399Val) n.1130T>G c.1198T>G (p.Phe400Val) c.5519T>G c.5977T>G (p.Phe1993Val) c.704+197T>G (n.704+197T>G) c.3299T>G c.5701T>G (p.Phe1901Val) c.5413T>G (p.Phe1805Val) c.2941T>G (p.Phe981Val) | |
19 | g.35732527T>A | CA405424942 | KMT2B | n.284T>A c.5912T>A (p.Phe1971Tyr) c.3519T>A (n.3519T>A) c.1196T>A (p.Phe399Tyr) n.1131T>A c.1199T>A (p.Phe400Tyr) c.5520T>A c.5978T>A (p.Phe1993Tyr) c.704+198T>A (n.704+198T>A) c.3300T>A c.5702T>A (p.Phe1901Tyr) c.5414T>A (p.Phe1805Tyr) c.2942T>A (p.Phe981Tyr) | |
19 | g.35732527T>C | CA405424945 | KMT2B | n.284T>C c.5912T>C (p.Phe1971Ser) c.3519T>C (n.3519T>C) c.1196T>C (p.Phe399Ser) n.1131T>C c.1199T>C (p.Phe400Ser) c.5520T>C c.5978T>C (p.Phe1993Ser) c.704+198T>C (n.704+198T>C) c.3300T>C c.5702T>C (p.Phe1901Ser) c.5414T>C (p.Phe1805Ser) c.2942T>C (p.Phe981Ser) | |
19 | g.35732527T>G | CA405424946 | KMT2B | n.284T>G c.5912T>G (p.Phe1971Cys) c.3519T>G (n.3519T>G) c.1196T>G (p.Phe399Cys) n.1131T>G c.1199T>G (p.Phe400Cys) c.5520T>G c.5978T>G (p.Phe1993Cys) c.704+198T>G (n.704+198T>G) c.3300T>G c.5702T>G (p.Phe1901Cys) c.5414T>G (p.Phe1805Cys) c.2942T>G (p.Phe981Cys) | |
19 | g.35732528C>A | CA405424947 | KMT2B | n.285C>A c.5913C>A (p.Phe1971Leu) c.3520C>A (n.3520C>A) c.1197C>A (p.Phe399Leu) n.1132C>A c.1200C>A (p.Phe400Leu) c.5521C>A c.5979C>A (p.Phe1993Leu) c.704+199C>A (n.704+199C>A) c.3301C>A c.5703C>A (p.Phe1901Leu) c.5415C>A (p.Phe1805Leu) c.2943C>A (p.Phe981Leu) | gnomAD v4 |
19 | g.35732528C= | CA2333794357 | KMT2B | n.285C= c.5913C= (p.Phe1971=) c.3520C= (n.3520C=) c.1197C= (p.Phe399=) n.1132C= c.1200C= (p.Phe400=) c.5521C= c.5979C= (p.Phe1993=) c.704+199C= (n.704+199C=) c.3301C= c.5703C= (p.Phe1901=) c.5415C= (p.Phe1805=) c.2943C= (p.Phe981=) | |
19 | g.35732528C>G | CA405424949 | KMT2B | n.285C>G c.5913C>G (p.Phe1971Leu) c.3520C>G (n.3520C>G) c.1197C>G (p.Phe399Leu) n.1132C>G c.1200C>G (p.Phe400Leu) c.5521C>G c.5979C>G (p.Phe1993Leu) c.704+199C>G (n.704+199C>G) c.3301C>G c.5703C>G (p.Phe1901Leu) c.5415C>G (p.Phe1805Leu) c.2943C>G (p.Phe981Leu) | |
19 | g.35732528C>T | CA9385574 | KMT2B | n.285C>T c.5913C>T (p.Phe1971=) c.3520C>T (n.3520C>T) c.1197C>T (p.Phe399=) n.1132C>T c.1200C>T (p.Phe400=) c.5521C>T c.5979C>T (p.Phe1993=) c.704+199C>T (n.704+199C>T) c.3301C>T c.5703C>T (p.Phe1901=) c.5415C>T (p.Phe1805=) c.2943C>T (p.Phe981=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732529G>A | CA307796005 | KMT2B | n.286G>A c.5914G>A (p.Ala1972Thr) c.3521G>A (n.3521G>A) c.1198G>A (p.Ala400Thr) n.1133G>A c.1201G>A (p.Ala401Thr) c.5522G>A c.5980G>A (p.Ala1994Thr) c.704+200G>A (n.704+200G>A) c.3302G>A c.5704G>A (p.Ala1902Thr) c.5416G>A (p.Ala1806Thr) c.2944G>A (p.Ala982Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732529G>C | CA405424956 | KMT2B | n.286G>C c.5914G>C (p.Ala1972Pro) c.3521G>C (n.3521G>C) c.1198G>C (p.Ala400Pro) n.1133G>C c.1201G>C (p.Ala401Pro) c.5522G>C c.5980G>C (p.Ala1994Pro) c.704+200G>C (n.704+200G>C) c.3302G>C c.5704G>C (p.Ala1902Pro) c.5416G>C (p.Ala1806Pro) c.2944G>C (p.Ala982Pro) | |
19 | g.35732529G= | CA2333794358 | KMT2B | n.286G= c.5914G= (p.Ala1972=) c.3521G= (n.3521G=) c.1198G= (p.Ala400=) n.1133G= c.1201G= (p.Ala401=) c.5522G= c.5980G= (p.Ala1994=) c.704+200G= (n.704+200G=) c.3302G= c.5704G= (p.Ala1902=) c.5416G= (p.Ala1806=) c.2944G= (p.Ala982=) | |
19 | g.35732529G>T | CA405424959 | KMT2B | n.286G>T c.5914G>T (p.Ala1972Ser) c.3521G>T (n.3521G>T) c.1198G>T (p.Ala400Ser) n.1133G>T c.1201G>T (p.Ala401Ser) c.5522G>T c.5980G>T (p.Ala1994Ser) c.704+200G>T (n.704+200G>T) c.3302G>T c.5704G>T (p.Ala1902Ser) c.5416G>T (p.Ala1806Ser) c.2944G>T (p.Ala982Ser) | |
19 | g.35732530C>A | CA405424961 | KMT2B | n.287C>A c.5915C>A (p.Ala1972Glu) c.3522C>A (n.3522C>A) c.1199C>A (p.Ala400Glu) n.1134C>A c.1202C>A (p.Ala401Glu) c.5523C>A c.5981C>A (p.Ala1994Glu) c.704+201C>A (n.704+201C>A) c.3303C>A c.5705C>A (p.Ala1902Glu) c.5417C>A (p.Ala1806Glu) c.2945C>A (p.Ala982Glu) | gnomAD v4 |
19 | g.35732530C= | CA2333794359 | KMT2B | n.287C= c.5915C= (p.Ala1972=) c.3522C= (n.3522C=) c.1199C= (p.Ala400=) n.1134C= c.1202C= (p.Ala401=) c.5523C= c.5981C= (p.Ala1994=) c.704+201C= (n.704+201C=) c.3303C= c.5705C= (p.Ala1902=) c.5417C= (p.Ala1806=) c.2945C= (p.Ala982=) | |
19 | g.35732530C>G | CA405424966 | KMT2B | n.287C>G c.5915C>G (p.Ala1972Gly) c.3522C>G (n.3522C>G) c.1199C>G (p.Ala400Gly) n.1134C>G c.1202C>G (p.Ala401Gly) c.5523C>G c.5981C>G (p.Ala1994Gly) c.704+201C>G (n.704+201C>G) c.3303C>G c.5705C>G (p.Ala1902Gly) c.5417C>G (p.Ala1806Gly) c.2945C>G (p.Ala982Gly) | |
19 | g.35732530C>T | CA9385575 | KMT2B | n.287C>T c.5915C>T (p.Ala1972Val) c.3522C>T (n.3522C>T) c.1199C>T (p.Ala400Val) n.1134C>T c.1202C>T (p.Ala401Val) c.5523C>T c.5981C>T (p.Ala1994Val) c.704+201C>T (n.704+201C>T) c.3303C>T c.5705C>T (p.Ala1902Val) c.5417C>T (p.Ala1806Val) c.2945C>T (p.Ala982Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732531G>A | CA9385577 | KMT2B | n.288G>A c.5916G>A (p.Ala1972=) c.3523G>A (n.3523G>A) c.1200G>A (p.Ala400=) n.1135G>A c.1203G>A (p.Ala401=) c.5524G>A c.5982G>A (p.Ala1994=) c.704+202G>A (n.704+202G>A) c.3304G>A c.5706G>A (p.Ala1902=) c.5418G>A (p.Ala1806=) c.2946G>A (p.Ala982=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732531G>C | CA507308156 | KMT2B | n.288G>C c.5916G>C (p.Ala1972=) c.3523G>C (n.3523G>C) c.1200G>C (p.Ala400=) n.1135G>C c.1203G>C (p.Ala401=) c.5524G>C c.5982G>C (p.Ala1994=) c.704+202G>C (n.704+202G>C) c.3304G>C c.5706G>C (p.Ala1902=) c.5418G>C (p.Ala1806=) c.2946G>C (p.Ala982=) | gnomAD v4 |
19 | g.35732531G= | CA2333794360 | KMT2B | n.288G= c.5916G= (p.Ala1972=) c.3523G= (n.3523G=) c.1200G= (p.Ala400=) n.1135G= c.1203G= (p.Ala401=) c.5524G= c.5982G= (p.Ala1994=) c.704+202G= (n.704+202G=) c.3304G= c.5706G= (p.Ala1902=) c.5418G= (p.Ala1806=) c.2946G= (p.Ala982=) | |
19 | g.35732531G>T | CA9385576 | KMT2B | n.288G>T c.5916G>T (p.Ala1972=) c.3523G>T (n.3523G>T) c.1200G>T (p.Ala400=) n.1135G>T c.1203G>T (p.Ala401=) c.5524G>T c.5982G>T (p.Ala1994=) c.704+202G>T (n.704+202G>T) c.3304G>T c.5706G>T (p.Ala1902=) c.5418G>T (p.Ala1806=) c.2946G>T (p.Ala982=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732532G>A | CA405424974 | KMT2B | n.289G>A c.5917G>A (p.Ala1973Thr) c.3524G>A (n.3524G>A) c.1201G>A (p.Ala401Thr) n.1136G>A c.1204G>A (p.Ala402Thr) c.5525G>A c.5983G>A (p.Ala1995Thr) c.704+203G>A (n.704+203G>A) c.3305G>A c.5707G>A (p.Ala1903Thr) c.5419G>A (p.Ala1807Thr) c.2947G>A (p.Ala983Thr) | |
19 | g.35732532G>C | CA405424976 | KMT2B | n.289G>C c.5917G>C (p.Ala1973Pro) c.3524G>C (n.3524G>C) c.1201G>C (p.Ala401Pro) n.1136G>C c.1204G>C (p.Ala402Pro) c.5525G>C c.5983G>C (p.Ala1995Pro) c.704+203G>C (n.704+203G>C) c.3305G>C c.5707G>C (p.Ala1903Pro) c.5419G>C (p.Ala1807Pro) c.2947G>C (p.Ala983Pro) | |
19 | g.35732532G>T | CA405424979 | KMT2B | n.289G>T c.5917G>T (p.Ala1973Ser) c.3524G>T (n.3524G>T) c.1201G>T (p.Ala401Ser) n.1136G>T c.1204G>T (p.Ala402Ser) c.5525G>T c.5983G>T (p.Ala1995Ser) c.704+203G>T (n.704+203G>T) c.3305G>T c.5707G>T (p.Ala1903Ser) c.5419G>T (p.Ala1807Ser) c.2947G>T (p.Ala983Ser) | |
19 | g.35732533C>A | CA405424982 | KMT2B | n.290C>A c.5918C>A (p.Ala1973Asp) c.3525C>A (n.3525C>A) c.1202C>A (p.Ala401Asp) n.1137C>A c.1205C>A (p.Ala402Asp) c.5526C>A c.5984C>A (p.Ala1995Asp) c.704+204C>A (n.704+204C>A) c.3306C>A c.5708C>A (p.Ala1903Asp) c.5420C>A (p.Ala1807Asp) c.2948C>A (p.Ala983Asp) | |
19 | g.35732533C>G | CA405424991 | KMT2B | n.290C>G c.5918C>G (p.Ala1973Gly) c.3525C>G (n.3525C>G) c.1202C>G (p.Ala401Gly) n.1137C>G c.1205C>G (p.Ala402Gly) c.5526C>G c.5984C>G (p.Ala1995Gly) c.704+204C>G (n.704+204C>G) c.3306C>G c.5708C>G (p.Ala1903Gly) c.5420C>G (p.Ala1807Gly) c.2948C>G (p.Ala983Gly) | |
19 | g.35732533C>T | CA405424989 | KMT2B | n.290C>T c.5918C>T (p.Ala1973Val) c.3525C>T (n.3525C>T) c.1202C>T (p.Ala401Val) n.1137C>T c.1205C>T (p.Ala402Val) c.5526C>T c.5984C>T (p.Ala1995Val) c.704+204C>T (n.704+204C>T) c.3306C>T c.5708C>T (p.Ala1903Val) c.5420C>T (p.Ala1807Val) c.2948C>T (p.Ala983Val) | |
19 | g.35732534C>A | CA507308160 | KMT2B | n.291C>A c.5919C>A (p.Ala1973=) c.3526C>A (n.3526C>A) c.1203C>A (p.Ala401=) n.1138C>A c.1206C>A (p.Ala402=) c.5527C>A c.5985C>A (p.Ala1995=) c.704+205C>A (n.704+205C>A) c.3307C>A c.5709C>A (p.Ala1903=) c.5421C>A (p.Ala1807=) c.2949C>A (p.Ala983=) | |
19 | g.35732534C= | CA2333794361 | KMT2B | n.291C= c.5919C= (p.Ala1973=) c.3526C= (n.3526C=) c.1203C= (p.Ala401=) n.1138C= c.1206C= (p.Ala402=) c.5527C= c.5985C= (p.Ala1995=) c.704+205C= (n.704+205C=) c.3307C= c.5709C= (p.Ala1903=) c.5421C= (p.Ala1807=) c.2949C= (p.Ala983=) | |
19 | g.35732534C>G | CA507308162 | KMT2B | n.291C>G c.5919C>G (p.Ala1973=) c.3526C>G (n.3526C>G) c.1203C>G (p.Ala401=) n.1138C>G c.1206C>G (p.Ala402=) c.5527C>G c.5985C>G (p.Ala1995=) c.704+205C>G (n.704+205C>G) c.3307C>G c.5709C>G (p.Ala1903=) c.5421C>G (p.Ala1807=) c.2949C>G (p.Ala983=) | gnomAD v4 |
19 | g.35732534C>T | CA507308163 | KMT2B | n.291C>T c.5919C>T (p.Ala1973=) c.3526C>T (n.3526C>T) c.1203C>T (p.Ala401=) n.1138C>T c.1206C>T (p.Ala402=) c.5527C>T c.5985C>T (p.Ala1995=) c.704+205C>T (n.704+205C>T) c.3307C>T c.5709C>T (p.Ala1903=) c.5421C>T (p.Ala1807=) c.2949C>T (p.Ala983=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732535A>C | CA405424994 | KMT2B | n.292A>C c.5920A>C (p.Ser1974Arg) c.3527A>C (n.3527A>C) c.1204A>C (p.Ser402Arg) n.1139A>C c.1207A>C (p.Ser403Arg) c.5528A>C c.5986A>C (p.Ser1996Arg) c.704+206A>C (n.704+206A>C) c.3308A>C c.5710A>C (p.Ser1904Arg) c.5422A>C (p.Ser1808Arg) c.2950A>C (p.Ser984Arg) | |
19 | g.35732535A>G | CA405424996 | KMT2B | n.292A>G c.5920A>G (p.Ser1974Gly) c.3527A>G (n.3527A>G) c.1204A>G (p.Ser402Gly) n.1139A>G c.1207A>G (p.Ser403Gly) c.5528A>G c.5986A>G (p.Ser1996Gly) c.704+206A>G (n.704+206A>G) c.3308A>G c.5710A>G (p.Ser1904Gly) c.5422A>G (p.Ser1808Gly) c.2950A>G (p.Ser984Gly) | |
19 | g.35732535A>T | CA405424999 | KMT2B | n.292A>T c.5920A>T (p.Ser1974Cys) c.3527A>T (n.3527A>T) c.1204A>T (p.Ser402Cys) n.1139A>T c.1207A>T (p.Ser403Cys) c.5528A>T c.5986A>T (p.Ser1996Cys) c.704+206A>T (n.704+206A>T) c.3308A>T c.5710A>T (p.Ser1904Cys) c.5422A>T (p.Ser1808Cys) c.2950A>T (p.Ser984Cys) | |
19 | g.35732536G>A | CA405425003 | KMT2B | n.293G>A c.5921G>A (p.Ser1974Asn) c.3528G>A (n.3528G>A) c.1205G>A (p.Ser402Asn) n.1140G>A c.1208G>A (p.Ser403Asn) c.5529G>A c.5987G>A (p.Ser1996Asn) c.704+207G>A (n.704+207G>A) c.3309G>A c.5711G>A (p.Ser1904Asn) c.5423G>A (p.Ser1808Asn) c.2951G>A (p.Ser984Asn) | |
19 | g.35732536G>C | CA405425008 | KMT2B | n.293G>C c.5921G>C (p.Ser1974Thr) c.3528G>C (n.3528G>C) c.1205G>C (p.Ser402Thr) n.1140G>C c.1208G>C (p.Ser403Thr) c.5529G>C c.5987G>C (p.Ser1996Thr) c.704+207G>C (n.704+207G>C) c.3309G>C c.5711G>C (p.Ser1904Thr) c.5423G>C (p.Ser1808Thr) c.2951G>C (p.Ser984Thr) | |
19 | g.35732536G>T | CA405425010 | KMT2B | n.293G>T c.5921G>T (p.Ser1974Ile) c.3528G>T (n.3528G>T) c.1205G>T (p.Ser402Ile) n.1140G>T c.1208G>T (p.Ser403Ile) c.5529G>T c.5987G>T (p.Ser1996Ile) c.704+207G>T (n.704+207G>T) c.3309G>T c.5711G>T (p.Ser1904Ile) c.5423G>T (p.Ser1808Ile) c.2951G>T (p.Ser984Ile) | |
19 | g.35732537C>A | CA405425013 | KMT2B | n.294C>A c.5922C>A (p.Ser1974Arg) c.3529C>A (n.3529C>A) c.1206C>A (p.Ser402Arg) n.1141C>A c.1209C>A (p.Ser403Arg) c.5530C>A c.5988C>A (p.Ser1996Arg) c.704+208C>A (n.704+208C>A) c.3310C>A c.5712C>A (p.Ser1904Arg) c.5424C>A (p.Ser1808Arg) c.2952C>A (p.Ser984Arg) | gnomAD v4 |
19 | g.35732537C>G | CA405425016 | KMT2B | n.294C>G c.5922C>G (p.Ser1974Arg) c.3529C>G (n.3529C>G) c.1206C>G (p.Ser402Arg) n.1141C>G c.1209C>G (p.Ser403Arg) c.5530C>G c.5988C>G (p.Ser1996Arg) c.704+208C>G (n.704+208C>G) c.3310C>G c.5712C>G (p.Ser1904Arg) c.5424C>G (p.Ser1808Arg) c.2952C>G (p.Ser984Arg) | |
19 | g.35732537C>T | CA507308167 | KMT2B | n.294C>T c.5922C>T (p.Ser1974=) c.3529C>T (n.3529C>T) c.1206C>T (p.Ser402=) n.1141C>T c.1209C>T (p.Ser403=) c.5530C>T c.5988C>T (p.Ser1996=) c.704+208C>T (n.704+208C>T) c.3310C>T c.5712C>T (p.Ser1904=) c.5424C>T (p.Ser1808=) c.2952C>T (p.Ser984=) | |
19 | g.35732538C>A | CA405425019 | KMT2B | n.295C>A c.5923C>A (p.Leu1975Met) c.3530C>A (n.3530C>A) c.1207C>A (p.Leu403Met) n.1142C>A c.1210C>A (p.Leu404Met) c.5531C>A c.5989C>A (p.Leu1997Met) c.704+209C>A (n.704+209C>A) c.3311C>A c.5713C>A (p.Leu1905Met) c.5425C>A (p.Leu1809Met) c.2953C>A (p.Leu985Met) | |
19 | g.35732538C>G | CA405425022 | KMT2B | n.295C>G c.5923C>G (p.Leu1975Val) c.3530C>G (n.3530C>G) c.1207C>G (p.Leu403Val) n.1142C>G c.1210C>G (p.Leu404Val) c.5531C>G c.5989C>G (p.Leu1997Val) c.704+209C>G (n.704+209C>G) c.3311C>G c.5713C>G (p.Leu1905Val) c.5425C>G (p.Leu1809Val) c.2953C>G (p.Leu985Val) | gnomAD v4 |
19 | g.35732538C>T | CA507308168 | KMT2B | n.295C>T c.5923C>T (p.Leu1975=) c.3530C>T (n.3530C>T) c.1207C>T (p.Leu403=) n.1142C>T c.1210C>T (p.Leu404=) c.5531C>T c.5989C>T (p.Leu1997=) c.704+209C>T (n.704+209C>T) c.3311C>T c.5713C>T (p.Leu1905=) c.5425C>T (p.Leu1809=) c.2953C>T (p.Leu985=) | |
19 | g.35732539T>A | CA405425027 | KMT2B | n.296T>A c.5924T>A (p.Leu1975Gln) c.3531T>A (n.3531T>A) c.1208T>A (p.Leu403Gln) n.1143T>A c.1211T>A (p.Leu404Gln) c.5532T>A c.5990T>A (p.Leu1997Gln) c.704+210T>A (n.704+210T>A) c.3312T>A c.5714T>A (p.Leu1905Gln) c.5426T>A (p.Leu1809Gln) c.2954T>A (p.Leu985Gln) | |
19 | g.35732539T>C | CA405425030 | KMT2B | n.296T>C c.5924T>C (p.Leu1975Pro) c.3531T>C (n.3531T>C) c.1208T>C (p.Leu403Pro) n.1143T>C c.1211T>C (p.Leu404Pro) c.5532T>C c.5990T>C (p.Leu1997Pro) c.704+210T>C (n.704+210T>C) c.3312T>C c.5714T>C (p.Leu1905Pro) c.5426T>C (p.Leu1809Pro) c.2954T>C (p.Leu985Pro) | |
19 | g.35732539T>G | CA405425034 | KMT2B | n.296T>G c.5924T>G (p.Leu1975Arg) c.3531T>G (n.3531T>G) c.1208T>G (p.Leu403Arg) n.1143T>G c.1211T>G (p.Leu404Arg) c.5532T>G c.5990T>G (p.Leu1997Arg) c.704+210T>G (n.704+210T>G) c.3312T>G c.5714T>G (p.Leu1905Arg) c.5426T>G (p.Leu1809Arg) c.2954T>G (p.Leu985Arg) | |
19 | g.35732540G>A | CA507308172 | KMT2B | n.297G>A c.5925G>A (p.Leu1975=) c.3532G>A (n.3532G>A) c.1209G>A (p.Leu403=) n.1144G>A c.1212G>A (p.Leu404=) c.5533G>A c.5991G>A (p.Leu1997=) c.704+211G>A (n.704+211G>A) c.3313G>A c.5715G>A (p.Leu1905=) c.5427G>A (p.Leu1809=) c.2955G>A (p.Leu985=) | |
19 | g.35732540G>C | CA507308174 | KMT2B | n.297G>C c.5925G>C (p.Leu1975=) c.3532G>C (n.3532G>C) c.1209G>C (p.Leu403=) n.1144G>C c.1212G>C (p.Leu404=) c.5533G>C c.5991G>C (p.Leu1997=) c.704+211G>C (n.704+211G>C) c.3313G>C c.5715G>C (p.Leu1905=) c.5427G>C (p.Leu1809=) c.2955G>C (p.Leu985=) | gnomAD v4 |
19 | g.35732540G>T | CA507308173 | KMT2B | n.297G>T c.5925G>T (p.Leu1975=) c.3532G>T (n.3532G>T) c.1209G>T (p.Leu403=) n.1144G>T c.1212G>T (p.Leu404=) c.5533G>T c.5991G>T (p.Leu1997=) c.704+211G>T (n.704+211G>T) c.3313G>T c.5715G>T (p.Leu1905=) c.5427G>T (p.Leu1809=) c.2955G>T (p.Leu985=) | gnomAD v4 |
19 | g.35732541C>A | CA405425037 | KMT2B | n.298C>A c.5926C>A (p.Leu1976Met) c.3533C>A (n.3533C>A) c.1210C>A (p.Leu404Met) n.1145C>A c.1213C>A (p.Leu405Met) c.5534C>A c.5992C>A (p.Leu1998Met) c.704+212C>A (n.704+212C>A) c.3314C>A c.5716C>A (p.Leu1906Met) c.5428C>A (p.Leu1810Met) c.2956C>A (p.Leu986Met) | |
19 | g.35732541C>G | CA405425038 | KMT2B | n.298C>G c.5926C>G (p.Leu1976Val) c.3533C>G (n.3533C>G) c.1210C>G (p.Leu404Val) n.1145C>G c.1213C>G (p.Leu405Val) c.5534C>G c.5992C>G (p.Leu1998Val) c.704+212C>G (n.704+212C>G) c.3314C>G c.5716C>G (p.Leu1906Val) c.5428C>G (p.Leu1810Val) c.2956C>G (p.Leu986Val) | |
19 | g.35732541C>T | CA507308175 | KMT2B | n.298C>T c.5926C>T (p.Leu1976=) c.3533C>T (n.3533C>T) c.1210C>T (p.Leu404=) n.1145C>T c.1213C>T (p.Leu405=) c.5534C>T c.5992C>T (p.Leu1998=) c.704+212C>T (n.704+212C>T) c.3314C>T c.5716C>T (p.Leu1906=) c.5428C>T (p.Leu1810=) c.2956C>T (p.Leu986=) | gnomAD v4 |
19 | g.35732542T>A | CA405425042 | KMT2B | n.299T>A c.5927T>A (p.Leu1976Gln) c.3534T>A (n.3534T>A) c.1211T>A (p.Leu404Gln) n.1146T>A c.1214T>A (p.Leu405Gln) c.5535T>A c.5993T>A (p.Leu1998Gln) c.704+213T>A (n.704+213T>A) c.3315T>A c.5717T>A (p.Leu1906Gln) c.5429T>A (p.Leu1810Gln) c.2957T>A (p.Leu986Gln) | |
19 | g.35732542T>C | CA405425044 | KMT2B | n.299T>C c.5927T>C (p.Leu1976Pro) c.3534T>C (n.3534T>C) c.1211T>C (p.Leu404Pro) n.1146T>C c.1214T>C (p.Leu405Pro) c.5535T>C c.5993T>C (p.Leu1998Pro) c.704+213T>C (n.704+213T>C) c.3315T>C c.5717T>C (p.Leu1906Pro) c.5429T>C (p.Leu1810Pro) c.2957T>C (p.Leu986Pro) | gnomAD v4 |
19 | g.35732542T>G | CA405425046 | KMT2B | n.299T>G c.5927T>G (p.Leu1976Arg) c.3534T>G (n.3534T>G) c.1211T>G (p.Leu404Arg) n.1146T>G c.1214T>G (p.Leu405Arg) c.5535T>G c.5993T>G (p.Leu1998Arg) c.704+213T>G (n.704+213T>G) c.3315T>G c.5717T>G (p.Leu1906Arg) c.5429T>G (p.Leu1810Arg) c.2957T>G (p.Leu986Arg) | |
19 | g.35732543G>A | CA507308176 | KMT2B | n.300G>A c.5928G>A (p.Leu1976=) c.3535G>A (n.3535G>A) c.1212G>A (p.Leu404=) n.1147G>A c.1215G>A (p.Leu405=) c.5536G>A c.5994G>A (p.Leu1998=) c.704+214G>A (n.704+214G>A) c.3316G>A c.5718G>A (p.Leu1906=) c.5430G>A (p.Leu1810=) c.2958G>A (p.Leu986=) | |
19 | g.35732543G>C | CA507308177 | KMT2B | n.300G>C c.5928G>C (p.Leu1976=) c.3535G>C (n.3535G>C) c.1212G>C (p.Leu404=) n.1147G>C c.1215G>C (p.Leu405=) c.5536G>C c.5994G>C (p.Leu1998=) c.704+214G>C (n.704+214G>C) c.3316G>C c.5718G>C (p.Leu1906=) c.5430G>C (p.Leu1810=) c.2958G>C (p.Leu986=) | |
19 | g.35732543G>T | CA507308178 | KMT2B | n.300G>T c.5928G>T (p.Leu1976=) c.3535G>T (n.3535G>T) c.1212G>T (p.Leu404=) n.1147G>T c.1215G>T (p.Leu405=) c.5536G>T c.5994G>T (p.Leu1998=) c.704+214G>T (n.704+214G>T) c.3316G>T c.5718G>T (p.Leu1906=) c.5430G>T (p.Leu1810=) c.2958G>T (p.Leu986=) | |
19 | g.35732544G>A | CA405425050 | KMT2B | n.301G>A c.5929G>A (p.Gly1977Arg) c.3536G>A (n.3536G>A) c.1213G>A (p.Gly405Arg) n.1148G>A c.1216G>A (p.Gly406Arg) c.5537G>A c.5995G>A (p.Gly1999Arg) c.704+215G>A (n.704+215G>A) c.3317G>A c.5719G>A (p.Gly1907Arg) c.5431G>A (p.Gly1811Arg) c.2959G>A (p.Gly987Arg) | |
19 | g.35732544G>C | CA9385578 | KMT2B | n.301G>C c.5929G>C (p.Gly1977Arg) c.3536G>C (n.3536G>C) c.1213G>C (p.Gly405Arg) n.1148G>C c.1216G>C (p.Gly406Arg) c.5537G>C c.5995G>C (p.Gly1999Arg) c.704+215G>C (n.704+215G>C) c.3317G>C c.5719G>C (p.Gly1907Arg) c.5431G>C (p.Gly1811Arg) c.2959G>C (p.Gly987Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732544G= | CA2333794362 | KMT2B | n.301G= c.5929G= (p.Gly1977=) c.3536G= (n.3536G=) c.1213G= (p.Gly405=) n.1148G= c.1216G= (p.Gly406=) c.5537G= c.5995G= (p.Gly1999=) c.704+215G= (n.704+215G=) c.3317G= c.5719G= (p.Gly1907=) c.5431G= (p.Gly1811=) c.2959G= (p.Gly987=) | |
19 | g.35732544G>T | CA405425054 | KMT2B | n.301G>T c.5929G>T (p.Gly1977Trp) c.3536G>T (n.3536G>T) c.1213G>T (p.Gly405Trp) n.1148G>T c.1216G>T (p.Gly406Trp) c.5537G>T c.5995G>T (p.Gly1999Trp) c.704+215G>T (n.704+215G>T) c.3317G>T c.5719G>T (p.Gly1907Trp) c.5431G>T (p.Gly1811Trp) c.2959G>T (p.Gly987Trp) | dbSNP |
19 | g.35732545G>A | CA405425056 | KMT2B | n.302G>A c.5930G>A (p.Gly1977Glu) c.3537G>A (n.3537G>A) c.1214G>A (p.Gly405Glu) n.1149G>A c.1217G>A (p.Gly406Glu) c.5538G>A c.5996G>A (p.Gly1999Glu) c.704+216G>A (n.704+216G>A) c.3318G>A c.5720G>A (p.Gly1907Glu) c.5432G>A (p.Gly1811Glu) c.2960G>A (p.Gly987Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732545G>C | CA405425059 | KMT2B | n.302G>C c.5930G>C (p.Gly1977Ala) c.3537G>C (n.3537G>C) c.1214G>C (p.Gly405Ala) n.1149G>C c.1217G>C (p.Gly406Ala) c.5538G>C c.5996G>C (p.Gly1999Ala) c.704+216G>C (n.704+216G>C) c.3318G>C c.5720G>C (p.Gly1907Ala) c.5432G>C (p.Gly1811Ala) c.2960G>C (p.Gly987Ala) | |
19 | g.35732545G= | CA2333794363 | KMT2B | n.302G= c.5930G= (p.Gly1977=) c.3537G= (n.3537G=) c.1214G= (p.Gly405=) n.1149G= c.1217G= (p.Gly406=) c.5538G= c.5996G= (p.Gly1999=) c.704+216G= (n.704+216G=) c.3318G= c.5720G= (p.Gly1907=) c.5432G= (p.Gly1811=) c.2960G= (p.Gly987=) | |
19 | g.35732545G>T | CA405425064 | KMT2B | n.302G>T c.5930G>T (p.Gly1977Val) c.3537G>T (n.3537G>T) c.1214G>T (p.Gly405Val) n.1149G>T c.1217G>T (p.Gly406Val) c.5538G>T c.5996G>T (p.Gly1999Val) c.704+216G>T (n.704+216G>T) c.3318G>T c.5720G>T (p.Gly1907Val) c.5432G>T (p.Gly1811Val) c.2960G>T (p.Gly987Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732546G>A | CA507308182 | KMT2B | n.303G>A c.5931G>A (p.Gly1977=) c.3538G>A (n.3538G>A) c.1215G>A (p.Gly405=) n.1150G>A c.1218G>A (p.Gly406=) c.5539G>A c.5997G>A (p.Gly1999=) c.704+217G>A (n.704+217G>A) c.3319G>A c.5721G>A (p.Gly1907=) c.5433G>A (p.Gly1811=) c.2961G>A (p.Gly987=) | |
19 | g.35732546G>C | CA507308183 | KMT2B | n.303G>C c.5931G>C (p.Gly1977=) c.3538G>C (n.3538G>C) c.1215G>C (p.Gly405=) n.1150G>C c.1218G>C (p.Gly406=) c.5539G>C c.5997G>C (p.Gly1999=) c.704+217G>C (n.704+217G>C) c.3319G>C c.5721G>C (p.Gly1907=) c.5433G>C (p.Gly1811=) c.2961G>C (p.Gly987=) | |
19 | g.35732546G= | CA2333794364 | KMT2B | n.303G= c.5931G= (p.Gly1977=) c.3538G= (n.3538G=) c.1215G= (p.Gly405=) n.1150G= c.1218G= (p.Gly406=) c.5539G= c.5997G= (p.Gly1999=) c.704+217G= (n.704+217G=) c.3319G= c.5721G= (p.Gly1907=) c.5433G= (p.Gly1811=) c.2961G= (p.Gly987=) | |
19 | g.35732546G>T | CA307796032 | KMT2B | n.303G>T c.5931G>T (p.Gly1977=) c.3538G>T (n.3538G>T) c.1215G>T (p.Gly405=) n.1150G>T c.1218G>T (p.Gly406=) c.5539G>T c.5997G>T (p.Gly1999=) c.704+217G>T (n.704+217G>T) c.3319G>T c.5721G>T (p.Gly1907=) c.5433G>T (p.Gly1811=) c.2961G>T (p.Gly987=) | dbSNP |
19 | g.35732547A>C | CA405425065 | KMT2B | n.304A>C c.5932A>C (p.Thr1978Pro) c.3539A>C (n.3539A>C) c.1216A>C (p.Thr406Pro) n.1151A>C c.1219A>C (p.Thr407Pro) c.5540A>C c.5998A>C (p.Thr2000Pro) c.704+218A>C (n.704+218A>C) c.3320A>C c.5722A>C (p.Thr1908Pro) c.5434A>C (p.Thr1812Pro) c.2962A>C (p.Thr988Pro) | gnomAD v4 |
19 | g.35732547A>G | CA405425067 | KMT2B | n.304A>G c.5932A>G (p.Thr1978Ala) c.3539A>G (n.3539A>G) c.1216A>G (p.Thr406Ala) n.1151A>G c.1219A>G (p.Thr407Ala) c.5540A>G c.5998A>G (p.Thr2000Ala) c.704+218A>G (n.704+218A>G) c.3320A>G c.5722A>G (p.Thr1908Ala) c.5434A>G (p.Thr1812Ala) c.2962A>G (p.Thr988Ala) | |
19 | g.35732547A>T | CA405425070 | KMT2B | n.304A>T c.5932A>T (p.Thr1978Ser) c.3539A>T (n.3539A>T) c.1216A>T (p.Thr406Ser) n.1151A>T c.1219A>T (p.Thr407Ser) c.5540A>T c.5998A>T (p.Thr2000Ser) c.704+218A>T (n.704+218A>T) c.3320A>T c.5722A>T (p.Thr1908Ser) c.5434A>T (p.Thr1812Ser) c.2962A>T (p.Thr988Ser) | |
19 | g.35732548C>A | CA405425078 | KMT2B | n.305C>A c.5933C>A (p.Thr1978Asn) c.3540C>A (n.3540C>A) c.1217C>A (p.Thr406Asn) n.1152C>A c.1220C>A (p.Thr407Asn) c.5541C>A c.5999C>A (p.Thr2000Asn) c.704+219C>A (n.704+219C>A) c.3321C>A c.5723C>A (p.Thr1908Asn) c.5435C>A (p.Thr1812Asn) c.2963C>A (p.Thr988Asn) | |
19 | g.35732548C= | CA2333794365 | KMT2B | n.305C= c.5933C= (p.Thr1978=) c.3540C= (n.3540C=) c.1217C= (p.Thr406=) n.1152C= c.1220C= (p.Thr407=) c.5541C= c.5999C= (p.Thr2000=) c.704+219C= (n.704+219C=) c.3321C= c.5723C= (p.Thr1908=) c.5435C= (p.Thr1812=) c.2963C= (p.Thr988=) | |
19 | g.35732548C>G | CA405425076 | KMT2B | n.305C>G c.5933C>G (p.Thr1978Ser) c.3540C>G (n.3540C>G) c.1217C>G (p.Thr406Ser) n.1152C>G c.1220C>G (p.Thr407Ser) c.5541C>G c.5999C>G (p.Thr2000Ser) c.704+219C>G (n.704+219C>G) c.3321C>G c.5723C>G (p.Thr1908Ser) c.5435C>G (p.Thr1812Ser) c.2963C>G (p.Thr988Ser) | |
19 | g.35732548C>T | CA307796039 | KMT2B | n.305C>T c.5933C>T (p.Thr1978Ile) c.3540C>T (n.3540C>T) c.1217C>T (p.Thr406Ile) n.1152C>T c.1220C>T (p.Thr407Ile) c.5541C>T c.5999C>T (p.Thr2000Ile) c.704+219C>T (n.704+219C>T) c.3321C>T c.5723C>T (p.Thr1908Ile) c.5435C>T (p.Thr1812Ile) c.2963C>T (p.Thr988Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732549T>A | CA507308187 | KMT2B | n.306T>A c.5934T>A (p.Thr1978=) c.3541T>A (n.3541T>A) c.1218T>A (p.Thr406=) n.1153T>A c.1221T>A (p.Thr407=) c.5542T>A c.6000T>A (p.Thr2000=) c.704+220T>A (n.704+220T>A) c.3322T>A c.5724T>A (p.Thr1908=) c.5436T>A (p.Thr1812=) c.2964T>A (p.Thr988=) | |
19 | g.35732549T>C | CA507308188 | KMT2B | n.306T>C c.5934T>C (p.Thr1978=) c.3541T>C (n.3541T>C) c.1218T>C (p.Thr406=) n.1153T>C c.1221T>C (p.Thr407=) c.5542T>C c.6000T>C (p.Thr2000=) c.704+220T>C (n.704+220T>C) c.3322T>C c.5724T>C (p.Thr1908=) c.5436T>C (p.Thr1812=) c.2964T>C (p.Thr988=) | |
19 | g.35732549T>G | CA507308189 | KMT2B | n.306T>G c.5934T>G (p.Thr1978=) c.3541T>G (n.3541T>G) c.1218T>G (p.Thr406=) n.1153T>G c.1221T>G (p.Thr407=) c.5542T>G c.6000T>G (p.Thr2000=) c.704+220T>G (n.704+220T>G) c.3322T>G c.5724T>G (p.Thr1908=) c.5436T>G (p.Thr1812=) c.2964T>G (p.Thr988=) | |
19 | g.35732550G>A | CA405425087 | KMT2B | n.307G>A c.5935G>A (p.Glu1979Lys) c.3542G>A (n.3542G>A) c.1219G>A (p.Glu407Lys) n.1154G>A c.1222G>A (p.Glu408Lys) c.5543G>A c.6001G>A (p.Glu2001Lys) c.704+221G>A (n.704+221G>A) c.3323G>A c.5725G>A (p.Glu1909Lys) c.5437G>A (p.Glu1813Lys) c.2965G>A (p.Glu989Lys) | |
19 | g.35732550G>C | CA405425082 | KMT2B | n.307G>C c.5935G>C (p.Glu1979Gln) c.3542G>C (n.3542G>C) c.1219G>C (p.Glu407Gln) n.1154G>C c.1222G>C (p.Glu408Gln) c.5543G>C c.6001G>C (p.Glu2001Gln) c.704+221G>C (n.704+221G>C) c.3323G>C c.5725G>C (p.Glu1909Gln) c.5437G>C (p.Glu1813Gln) c.2965G>C (p.Glu989Gln) | |
19 | g.35732550G>T | CA405425089 | KMT2B | n.307G>T c.5935G>T (p.Glu1979Ter) c.3542G>T (n.3542G>T) c.1219G>T (p.Glu407Ter) n.1154G>T c.1222G>T (p.Glu408Ter) c.5543G>T c.6001G>T (p.Glu2001Ter) c.704+221G>T (n.704+221G>T) c.3323G>T c.5725G>T (p.Glu1909Ter) c.5437G>T (p.Glu1813Ter) c.2965G>T (p.Glu989Ter) | |
19 | g.35732551A>C | CA405425094 | KMT2B | n.308A>C c.5936A>C (p.Glu1979Ala) c.3543A>C (n.3543A>C) c.1220A>C (p.Glu407Ala) n.1155A>C c.1223A>C (p.Glu408Ala) c.5544A>C c.6002A>C (p.Glu2001Ala) c.704+222A>C (n.704+222A>C) c.3324A>C c.5726A>C (p.Glu1909Ala) c.5438A>C (p.Glu1813Ala) c.2966A>C (p.Glu989Ala) | |
19 | g.35732551A>G | CA405425099 | KMT2B | n.308A>G c.5936A>G (p.Glu1979Gly) c.3543A>G (n.3543A>G) c.1220A>G (p.Glu407Gly) n.1155A>G c.1223A>G (p.Glu408Gly) c.5544A>G c.6002A>G (p.Glu2001Gly) c.704+222A>G (n.704+222A>G) c.3324A>G c.5726A>G (p.Glu1909Gly) c.5438A>G (p.Glu1813Gly) c.2966A>G (p.Glu989Gly) | |
19 | g.35732551A>T | CA405425102 | KMT2B | n.308A>T c.5936A>T (p.Glu1979Val) c.3543A>T (n.3543A>T) c.1220A>T (p.Glu407Val) n.1155A>T c.1223A>T (p.Glu408Val) c.5544A>T c.6002A>T (p.Glu2001Val) c.704+222A>T (n.704+222A>T) c.3324A>T c.5726A>T (p.Glu1909Val) c.5438A>T (p.Glu1813Val) c.2966A>T (p.Glu989Val) | |
19 | g.35732552G>A | CA307796054 | KMT2B | n.309G>A c.5937G>A (p.Glu1979=) c.3544G>A (n.3544G>A) c.1221G>A (p.Glu407=) n.1156G>A c.1224G>A (p.Glu408=) c.5545G>A c.6003G>A (p.Glu2001=) c.704+223G>A (n.704+223G>A) c.3325G>A c.5727G>A (p.Glu1909=) c.5439G>A (p.Glu1813=) c.2967G>A (p.Glu989=) | dbSNP gnomAD v4 |
19 | g.35732552G>C | CA405425105 | KMT2B | n.309G>C c.5937G>C (p.Glu1979Asp) c.3544G>C (n.3544G>C) c.1221G>C (p.Glu407Asp) n.1156G>C c.1224G>C (p.Glu408Asp) c.5545G>C c.6003G>C (p.Glu2001Asp) c.704+223G>C (n.704+223G>C) c.3325G>C c.5727G>C (p.Glu1909Asp) c.5439G>C (p.Glu1813Asp) c.2967G>C (p.Glu989Asp) | |
19 | g.35732552G= | CA2333794366 | KMT2B | n.309G= c.5937G= (p.Glu1979=) c.3544G= (n.3544G=) c.1221G= (p.Glu407=) n.1156G= c.1224G= (p.Glu408=) c.5545G= c.6003G= (p.Glu2001=) c.704+223G= (n.704+223G=) c.3325G= c.5727G= (p.Glu1909=) c.5439G= (p.Glu1813=) c.2967G= (p.Glu989=) | |
19 | g.35732552G>T | CA405425109 | KMT2B | n.309G>T c.5937G>T (p.Glu1979Asp) c.3544G>T (n.3544G>T) c.1221G>T (p.Glu407Asp) n.1156G>T c.1224G>T (p.Glu408Asp) c.5545G>T c.6003G>T (p.Glu2001Asp) c.704+223G>T (n.704+223G>T) c.3325G>T c.5727G>T (p.Glu1909Asp) c.5439G>T (p.Glu1813Asp) c.2967G>T (p.Glu989Asp) | |
19 | g.35732553C>A | CA405425117 | KMT2B | n.310C>A c.5938C>A (p.Pro1980Thr) c.3545C>A (n.3545C>A) c.1222C>A (p.Pro408Thr) n.1157C>A c.1225C>A (p.Pro409Thr) c.5546C>A c.6004C>A (p.Pro2002Thr) c.704+224C>A (n.704+224C>A) c.3326C>A c.5728C>A (p.Pro1910Thr) c.5440C>A (p.Pro1814Thr) c.2968C>A (p.Pro990Thr) | gnomAD v4 |
19 | g.35732553C= | CA2333794367 | KMT2B | n.310C= c.5938C= (p.Pro1980=) c.3545C= (n.3545C=) c.1222C= (p.Pro408=) n.1157C= c.1225C= (p.Pro409=) c.5546C= c.6004C= (p.Pro2002=) c.704+224C= (n.704+224C=) c.3326C= c.5728C= (p.Pro1910=) c.5440C= (p.Pro1814=) c.2968C= (p.Pro990=) | |
19 | g.35732553C>G | CA405425114 | KMT2B | n.310C>G c.5938C>G (p.Pro1980Ala) c.3545C>G (n.3545C>G) c.1222C>G (p.Pro408Ala) n.1157C>G c.1225C>G (p.Pro409Ala) c.5546C>G c.6004C>G (p.Pro2002Ala) c.704+224C>G (n.704+224C>G) c.3326C>G c.5728C>G (p.Pro1910Ala) c.5440C>G (p.Pro1814Ala) c.2968C>G (p.Pro990Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732553C>T | CA405425113 | KMT2B | n.310C>T c.5938C>T (p.Pro1980Ser) c.3545C>T (n.3545C>T) c.1222C>T (p.Pro408Ser) n.1157C>T c.1225C>T (p.Pro409Ser) c.5546C>T c.6004C>T (p.Pro2002Ser) c.704+224C>T (n.704+224C>T) c.3326C>T c.5728C>T (p.Pro1910Ser) c.5440C>T (p.Pro1814Ser) c.2968C>T (p.Pro990Ser) | COSMIC |
19 | g.35732554C>A | CA405425121 | KMT2B | n.311C>A c.5939C>A (p.Pro1980His) c.3546C>A (n.3546C>A) c.1223C>A (p.Pro408His) n.1158C>A c.1226C>A (p.Pro409His) c.5547C>A c.6005C>A (p.Pro2002His) c.704+225C>A (n.704+225C>A) c.3327C>A c.5729C>A (p.Pro1910His) c.5441C>A (p.Pro1814His) c.2969C>A (p.Pro990His) | |
19 | g.35732554C= | CA2333794368 | KMT2B | n.311C= c.5939C= (p.Pro1980=) c.3546C= (n.3546C=) c.1223C= (p.Pro408=) n.1158C= c.1226C= (p.Pro409=) c.5547C= c.6005C= (p.Pro2002=) c.704+225C= (n.704+225C=) c.3327C= c.5729C= (p.Pro1910=) c.5441C= (p.Pro1814=) c.2969C= (p.Pro990=) | |
19 | g.35732554C>G | CA405425124 | KMT2B | n.311C>G c.5939C>G (p.Pro1980Arg) c.3546C>G (n.3546C>G) c.1223C>G (p.Pro408Arg) n.1158C>G c.1226C>G (p.Pro409Arg) c.5547C>G c.6005C>G (p.Pro2002Arg) c.704+225C>G (n.704+225C>G) c.3327C>G c.5729C>G (p.Pro1910Arg) c.5441C>G (p.Pro1814Arg) c.2969C>G (p.Pro990Arg) | |
19 | g.35732554C>T | CA9385579 | KMT2B | n.311C>T c.5939C>T (p.Pro1980Leu) c.3546C>T (n.3546C>T) c.1223C>T (p.Pro408Leu) n.1158C>T c.1226C>T (p.Pro409Leu) c.5547C>T c.6005C>T (p.Pro2002Leu) c.704+225C>T (n.704+225C>T) c.3327C>T c.5729C>T (p.Pro1910Leu) c.5441C>T (p.Pro1814Leu) c.2969C>T (p.Pro990Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732555C>A | CA507308197 | KMT2B | n.312C>A c.5940C>A (p.Pro1980=) c.3547C>A (n.3547C>A) c.1224C>A (p.Pro408=) n.1159C>A c.1227C>A (p.Pro409=) c.5548C>A c.6006C>A (p.Pro2002=) c.704+226C>A (n.704+226C>A) c.3328C>A c.5730C>A (p.Pro1910=) c.5442C>A (p.Pro1814=) c.2970C>A (p.Pro990=) | |
19 | g.35732555C= | CA2333794369 | KMT2B | n.312C= c.5940C= (p.Pro1980=) c.3547C= (n.3547C=) c.1224C= (p.Pro408=) n.1159C= c.1227C= (p.Pro409=) c.5548C= c.6006C= (p.Pro2002=) c.704+226C= (n.704+226C=) c.3328C= c.5730C= (p.Pro1910=) c.5442C= (p.Pro1814=) c.2970C= (p.Pro990=) | |
19 | g.35732555C>G | CA507308198 | KMT2B | n.312C>G c.5940C>G (p.Pro1980=) c.3547C>G (n.3547C>G) c.1224C>G (p.Pro408=) n.1159C>G c.1227C>G (p.Pro409=) c.5548C>G c.6006C>G (p.Pro2002=) c.704+226C>G (n.704+226C>G) c.3328C>G c.5730C>G (p.Pro1910=) c.5442C>G (p.Pro1814=) c.2970C>G (p.Pro990=) | |
19 | g.35732555C>T | CA507308199 | KMT2B | n.312C>T c.5940C>T (p.Pro1980=) c.3547C>T (n.3547C>T) c.1224C>T (p.Pro408=) n.1159C>T c.1227C>T (p.Pro409=) c.5548C>T c.6006C>T (p.Pro2002=) c.704+226C>T (n.704+226C>T) c.3328C>T c.5730C>T (p.Pro1910=) c.5442C>T (p.Pro1814=) c.2970C>T (p.Pro990=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732556T>A | CA405425134 | KMT2B | n.313T>A c.5941T>A (p.Phe1981Ile) c.3548T>A (n.3548T>A) c.1225T>A (p.Phe409Ile) n.1160T>A c.1228T>A (p.Phe410Ile) c.5549T>A c.6007T>A (p.Phe2003Ile) c.704+227T>A (n.704+227T>A) c.3329T>A c.5731T>A (p.Phe1911Ile) c.5443T>A (p.Phe1815Ile) c.2971T>A (p.Phe991Ile) | gnomAD v4 |
19 | g.35732556T>C | CA405425137 | KMT2B | n.313T>C c.5941T>C (p.Phe1981Leu) c.3548T>C (n.3548T>C) c.1225T>C (p.Phe409Leu) n.1160T>C c.1228T>C (p.Phe410Leu) c.5549T>C c.6007T>C (p.Phe2003Leu) c.704+227T>C (n.704+227T>C) c.3329T>C c.5731T>C (p.Phe1911Leu) c.5443T>C (p.Phe1815Leu) c.2971T>C (p.Phe991Leu) | gnomAD v4 |
19 | g.35732556T>G | CA405425139 | KMT2B | n.313T>G c.5941T>G (p.Phe1981Val) c.3548T>G (n.3548T>G) c.1225T>G (p.Phe409Val) n.1160T>G c.1228T>G (p.Phe410Val) c.5549T>G c.6007T>G (p.Phe2003Val) c.704+227T>G (n.704+227T>G) c.3329T>G c.5731T>G (p.Phe1911Val) c.5443T>G (p.Phe1815Val) c.2971T>G (p.Phe991Val) | |
19 | g.35732557T>A | CA405425144 | KMT2B | n.314T>A c.5942T>A (p.Phe1981Tyr) c.3549T>A (n.3549T>A) c.1226T>A (p.Phe409Tyr) n.1161T>A c.1229T>A (p.Phe410Tyr) c.5550T>A c.6008T>A (p.Phe2003Tyr) c.704+228T>A (n.704+228T>A) c.3330T>A c.5732T>A (p.Phe1911Tyr) c.5444T>A (p.Phe1815Tyr) c.2972T>A (p.Phe991Tyr) | |
19 | g.35732557T>C | CA405425149 | KMT2B | n.314T>C c.5942T>C (p.Phe1981Ser) c.3549T>C (n.3549T>C) c.1226T>C (p.Phe409Ser) n.1161T>C c.1229T>C (p.Phe410Ser) c.5550T>C c.6008T>C (p.Phe2003Ser) c.704+228T>C (n.704+228T>C) c.3330T>C c.5732T>C (p.Phe1911Ser) c.5444T>C (p.Phe1815Ser) c.2972T>C (p.Phe991Ser) | |
19 | g.35732557T>G | CA405425146 | KMT2B | n.314T>G c.5942T>G (p.Phe1981Cys) c.3549T>G (n.3549T>G) c.1226T>G (p.Phe409Cys) n.1161T>G c.1229T>G (p.Phe410Cys) c.5550T>G c.6008T>G (p.Phe2003Cys) c.704+228T>G (n.704+228T>G) c.3330T>G c.5732T>G (p.Phe1911Cys) c.5444T>G (p.Phe1815Cys) c.2972T>G (p.Phe991Cys) | |
19 | g.35732558C>A | CA405425152 | KMT2B | n.315C>A c.5943C>A (p.Phe1981Leu) c.3550C>A (n.3550C>A) c.1227C>A (p.Phe409Leu) n.1162C>A c.1230C>A (p.Phe410Leu) c.5551C>A c.6009C>A (p.Phe2003Leu) c.704+229C>A (n.704+229C>A) c.3331C>A c.5733C>A (p.Phe1911Leu) c.5445C>A (p.Phe1815Leu) c.2973C>A (p.Phe991Leu) | |
19 | g.35732558C= | CA2333794370 | KMT2B | n.315C= c.5943C= (p.Phe1981=) c.3550C= (n.3550C=) c.1227C= (p.Phe409=) n.1162C= c.1230C= (p.Phe410=) c.5551C= c.6009C= (p.Phe2003=) c.704+229C= (n.704+229C=) c.3331C= c.5733C= (p.Phe1911=) c.5445C= (p.Phe1815=) c.2973C= (p.Phe991=) | |
19 | g.35732558C>G | CA405425154 | KMT2B | n.315C>G c.5943C>G (p.Phe1981Leu) c.3550C>G (n.3550C>G) c.1227C>G (p.Phe409Leu) n.1162C>G c.1230C>G (p.Phe410Leu) c.5551C>G c.6009C>G (p.Phe2003Leu) c.704+229C>G (n.704+229C>G) c.3331C>G c.5733C>G (p.Phe1911Leu) c.5445C>G (p.Phe1815Leu) c.2973C>G (p.Phe991Leu) | gnomAD v4 |
19 | g.35732558C>T | CA507308202 | KMT2B | n.315C>T c.5943C>T (p.Phe1981=) c.3550C>T (n.3550C>T) c.1227C>T (p.Phe409=) n.1162C>T c.1230C>T (p.Phe410=) c.5551C>T c.6009C>T (p.Phe2003=) c.704+229C>T (n.704+229C>T) c.3331C>T c.5733C>T (p.Phe1911=) c.5445C>T (p.Phe1815=) c.2973C>T (p.Phe991=) | dbSNP |
19 | g.35732559C>A | CA405425158 | KMT2B | n.316C>A c.5944C>A (p.Gln1982Lys) c.3551C>A (n.3551C>A) c.1228C>A (p.Gln410Lys) n.1163C>A c.1231C>A (p.Gln411Lys) c.5552C>A c.6010C>A (p.Gln2004Lys) c.704+230C>A (n.704+230C>A) c.3332C>A c.5734C>A (p.Gln1912Lys) c.5446C>A (p.Gln1816Lys) c.2974C>A (p.Gln992Lys) | |
19 | g.35732559C>G | CA405425161 | KMT2B | n.316C>G c.5944C>G (p.Gln1982Glu) c.3551C>G (n.3551C>G) c.1228C>G (p.Gln410Glu) n.1163C>G c.1231C>G (p.Gln411Glu) c.5552C>G c.6010C>G (p.Gln2004Glu) c.704+230C>G (n.704+230C>G) c.3332C>G c.5734C>G (p.Gln1912Glu) c.5446C>G (p.Gln1816Glu) c.2974C>G (p.Gln992Glu) | |
19 | g.35732559C>T | CA405425164 | KMT2B | n.316C>T c.5944C>T (p.Gln1982Ter) c.3551C>T (n.3551C>T) c.1228C>T (p.Gln410Ter) n.1163C>T c.1231C>T (p.Gln411Ter) c.5552C>T c.6010C>T (p.Gln2004Ter) c.704+230C>T (n.704+230C>T) c.3332C>T c.5734C>T (p.Gln1912Ter) c.5446C>T (p.Gln1816Ter) c.2974C>T (p.Gln992Ter) | |
19 | g.35732560A>C | CA405425169 | KMT2B | n.317A>C c.5945A>C (p.Gln1982Pro) c.3552A>C (n.3552A>C) c.1229A>C (p.Gln410Pro) n.1164A>C c.1232A>C (p.Gln411Pro) c.5553A>C c.6011A>C (p.Gln2004Pro) c.704+231A>C (n.704+231A>C) c.3333A>C c.5735A>C (p.Gln1912Pro) c.5447A>C (p.Gln1816Pro) c.2975A>C (p.Gln992Pro) | |
19 | g.35732560A>G | CA405425171 | KMT2B | n.317A>G c.5945A>G (p.Gln1982Arg) c.3552A>G (n.3552A>G) c.1229A>G (p.Gln410Arg) n.1164A>G c.1232A>G (p.Gln411Arg) c.5553A>G c.6011A>G (p.Gln2004Arg) c.704+231A>G (n.704+231A>G) c.3333A>G c.5735A>G (p.Gln1912Arg) c.5447A>G (p.Gln1816Arg) c.2975A>G (p.Gln992Arg) | gnomAD v4 |
19 | g.35732560A>T | CA405425175 | KMT2B | n.317A>T c.5945A>T (p.Gln1982Leu) c.3552A>T (n.3552A>T) c.1229A>T (p.Gln410Leu) n.1164A>T c.1232A>T (p.Gln411Leu) c.5553A>T c.6011A>T (p.Gln2004Leu) c.704+231A>T (n.704+231A>T) c.3333A>T c.5735A>T (p.Gln1912Leu) c.5447A>T (p.Gln1816Leu) c.2975A>T (p.Gln992Leu) | gnomAD v4 |
19 | g.35732561G>A | CA507308205 | KMT2B | n.318G>A c.5946G>A (p.Gln1982=) c.3553G>A (n.3553G>A) c.1230G>A (p.Gln410=) n.1165G>A c.1233G>A (p.Gln411=) c.5554G>A c.6012G>A (p.Gln2004=) c.704+232G>A (n.704+232G>A) c.3334G>A c.5736G>A (p.Gln1912=) c.5448G>A (p.Gln1816=) c.2976G>A (p.Gln992=) | |
19 | g.35732561G>C | CA405425176 | KMT2B | n.318G>C c.5946G>C (p.Gln1982His) c.3553G>C (n.3553G>C) c.1230G>C (p.Gln410His) n.1165G>C c.1233G>C (p.Gln411His) c.5554G>C c.6012G>C (p.Gln2004His) c.704+232G>C (n.704+232G>C) c.3334G>C c.5736G>C (p.Gln1912His) c.5448G>C (p.Gln1816His) c.2976G>C (p.Gln992His) | |
19 | g.35732561G>T | CA405425178 | KMT2B | n.318G>T c.5946G>T (p.Gln1982His) c.3553G>T (n.3553G>T) c.1230G>T (p.Gln410His) n.1165G>T c.1233G>T (p.Gln411His) c.5554G>T c.6012G>T (p.Gln2004His) c.704+232G>T (n.704+232G>T) c.3334G>T c.5736G>T (p.Gln1912His) c.5448G>T (p.Gln1816His) c.2976G>T (p.Gln992His) | |
19 | g.35732562G>A | CA405425186 | KMT2B | n.319G>A c.5947G>A (p.Glu1983Lys) c.3554G>A (n.3554G>A) c.1231G>A (p.Glu411Lys) n.1166G>A c.1234G>A (p.Glu412Lys) c.5555G>A c.6013G>A (p.Glu2005Lys) c.704+233G>A (n.704+233G>A) c.3335G>A c.5737G>A (p.Glu1913Lys) c.5449G>A (p.Glu1817Lys) c.2977G>A (p.Glu993Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732562G>C | CA405425184 | KMT2B | n.319G>C c.5947G>C (p.Glu1983Gln) c.3554G>C (n.3554G>C) c.1231G>C (p.Glu411Gln) n.1166G>C c.1234G>C (p.Glu412Gln) c.5555G>C c.6013G>C (p.Glu2005Gln) c.704+233G>C (n.704+233G>C) c.3335G>C c.5737G>C (p.Glu1913Gln) c.5449G>C (p.Glu1817Gln) c.2977G>C (p.Glu993Gln) | gnomAD v4 |
19 | g.35732562G= | CA2333794371 | KMT2B | n.319G= c.5947G= (p.Glu1983=) c.3554G= (n.3554G=) c.1231G= (p.Glu411=) n.1166G= c.1234G= (p.Glu412=) c.5555G= c.6013G= (p.Glu2005=) c.704+233G= (n.704+233G=) c.3335G= c.5737G= (p.Glu1913=) c.5449G= (p.Glu1817=) c.2977G= (p.Glu993=) | |
19 | g.35732562G>T | CA405425182 | KMT2B | n.319G>T c.5947G>T (p.Glu1983Ter) c.3554G>T (n.3554G>T) c.1231G>T (p.Glu411Ter) n.1166G>T c.1234G>T (p.Glu412Ter) c.5555G>T c.6013G>T (p.Glu2005Ter) c.704+233G>T (n.704+233G>T) c.3335G>T c.5737G>T (p.Glu1913Ter) c.5449G>T (p.Glu1817Ter) c.2977G>T (p.Glu993Ter) | |
19 | g.35732563A>C | CA405425189 | KMT2B | n.320A>C c.5948A>C (p.Glu1983Ala) c.3555A>C (n.3555A>C) c.1232A>C (p.Glu411Ala) n.1167A>C c.1235A>C (p.Glu412Ala) c.5556A>C c.6014A>C (p.Glu2005Ala) c.704+234A>C (n.704+234A>C) c.3336A>C c.5738A>C (p.Glu1913Ala) c.5450A>C (p.Glu1817Ala) c.2978A>C (p.Glu993Ala) | |
19 | g.35732563A>G | CA405425193 | KMT2B | n.320A>G c.5948A>G (p.Glu1983Gly) c.3555A>G (n.3555A>G) c.1232A>G (p.Glu411Gly) n.1167A>G c.1235A>G (p.Glu412Gly) c.5556A>G c.6014A>G (p.Glu2005Gly) c.704+234A>G (n.704+234A>G) c.3336A>G c.5738A>G (p.Glu1913Gly) c.5450A>G (p.Glu1817Gly) c.2978A>G (p.Glu993Gly) | |
19 | g.35732563A>T | CA405425195 | KMT2B | n.320A>T c.5948A>T (p.Glu1983Val) c.3555A>T (n.3555A>T) c.1232A>T (p.Glu411Val) n.1167A>T c.1235A>T (p.Glu412Val) c.5556A>T c.6014A>T (p.Glu2005Val) c.704+234A>T (n.704+234A>T) c.3336A>T c.5738A>T (p.Glu1913Val) c.5450A>T (p.Glu1817Val) c.2978A>T (p.Glu993Val) | |
19 | g.35732564A>C | CA405425198 | KMT2B | n.321A>C c.5949A>C (p.Glu1983Asp) c.3556A>C (n.3556A>C) c.1233A>C (p.Glu411Asp) n.1168A>C c.1236A>C (p.Glu412Asp) c.5557A>C c.6015A>C (p.Glu2005Asp) c.704+235A>C (n.704+235A>C) c.3337A>C c.5739A>C (p.Glu1913Asp) c.5451A>C (p.Glu1817Asp) c.2979A>C (p.Glu993Asp) | |
19 | g.35732564A>G | CA507308209 | KMT2B | n.321A>G c.5949A>G (p.Glu1983=) c.3556A>G (n.3556A>G) c.1233A>G (p.Glu411=) n.1168A>G c.1236A>G (p.Glu412=) c.5557A>G c.6015A>G (p.Glu2005=) c.704+235A>G (n.704+235A>G) c.3337A>G c.5739A>G (p.Glu1913=) c.5451A>G (p.Glu1817=) c.2979A>G (p.Glu993=) | |
19 | g.35732564A>T | CA405425200 | KMT2B | n.321A>T c.5949A>T (p.Glu1983Asp) c.3556A>T (n.3556A>T) c.1233A>T (p.Glu411Asp) n.1168A>T c.1236A>T (p.Glu412Asp) c.5557A>T c.6015A>T (p.Glu2005Asp) c.704+235A>T (n.704+235A>T) c.3337A>T c.5739A>T (p.Glu1913Asp) c.5451A>T (p.Glu1817Asp) c.2979A>T (p.Glu993Asp) | |
19 | g.35732565G>A | CA405425210 | KMT2B | n.322G>A c.5950G>A (p.Glu1984Lys) c.3557G>A (n.3557G>A) c.1234G>A (p.Glu412Lys) n.1169G>A c.1237G>A (p.Glu413Lys) c.5558G>A c.6016G>A (p.Glu2006Lys) c.704+236G>A (n.704+236G>A) c.3338G>A c.5740G>A (p.Glu1914Lys) c.5452G>A (p.Glu1818Lys) c.2980G>A (p.Glu994Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732565G>C | CA405425207 | KMT2B | n.322G>C c.5950G>C (p.Glu1984Gln) c.3557G>C (n.3557G>C) c.1234G>C (p.Glu412Gln) n.1169G>C c.1237G>C (p.Glu413Gln) c.5558G>C c.6016G>C (p.Glu2006Gln) c.704+236G>C (n.704+236G>C) c.3338G>C c.5740G>C (p.Glu1914Gln) c.5452G>C (p.Glu1818Gln) c.2980G>C (p.Glu994Gln) | gnomAD v4 |
19 | g.35732565G= | CA2333794372 | KMT2B | n.322G= c.5950G= (p.Glu1984=) c.3557G= (n.3557G=) c.1234G= (p.Glu412=) n.1169G= c.1237G= (p.Glu413=) c.5558G= c.6016G= (p.Glu2006=) c.704+236G= (n.704+236G=) c.3338G= c.5740G= (p.Glu1914=) c.5452G= (p.Glu1818=) c.2980G= (p.Glu994=) | |
19 | g.35732565G>T | CA405425205 | KMT2B | n.322G>T c.5950G>T (p.Glu1984Ter) c.3557G>T (n.3557G>T) c.1234G>T (p.Glu412Ter) n.1169G>T c.1237G>T (p.Glu413Ter) c.5558G>T c.6016G>T (p.Glu2006Ter) c.704+236G>T (n.704+236G>T) c.3338G>T c.5740G>T (p.Glu1914Ter) c.5452G>T (p.Glu1818Ter) c.2980G>T (p.Glu994Ter) | |
19 | g.35732566A>C | CA405425214 | KMT2B | n.323A>C c.5951A>C (p.Glu1984Ala) c.3558A>C (n.3558A>C) c.1235A>C (p.Glu412Ala) n.1170A>C c.1238A>C (p.Glu413Ala) c.5559A>C c.6017A>C (p.Glu2006Ala) c.704+237A>C (n.704+237A>C) c.3339A>C c.5741A>C (p.Glu1914Ala) c.5453A>C (p.Glu1818Ala) c.2981A>C (p.Glu994Ala) | |
19 | g.35732566A>G | CA405425217 | KMT2B | n.323A>G c.5951A>G (p.Glu1984Gly) c.3558A>G (n.3558A>G) c.1235A>G (p.Glu412Gly) n.1170A>G c.1238A>G (p.Glu413Gly) c.5559A>G c.6017A>G (p.Glu2006Gly) c.704+237A>G (n.704+237A>G) c.3339A>G c.5741A>G (p.Glu1914Gly) c.5453A>G (p.Glu1818Gly) c.2981A>G (p.Glu994Gly) | ClinVar gnomAD v4 |
19 | g.35732566A>T | CA405425220 | KMT2B | n.323A>T c.5951A>T (p.Glu1984Val) c.3558A>T (n.3558A>T) c.1235A>T (p.Glu412Val) n.1170A>T c.1238A>T (p.Glu413Val) c.5559A>T c.6017A>T (p.Glu2006Val) c.704+237A>T (n.704+237A>T) c.3339A>T c.5741A>T (p.Glu1914Val) c.5453A>T (p.Glu1818Val) c.2981A>T (p.Glu994Val) | |
19 | g.35732567G>A | CA9385580 | KMT2B | n.324G>A c.5952G>A (p.Glu1984=) c.3559G>A (n.3559G>A) c.1236G>A (p.Glu412=) n.1171G>A c.1239G>A (p.Glu413=) c.5560G>A c.6018G>A (p.Glu2006=) c.704+238G>A (n.704+238G>A) c.3340G>A c.5742G>A (p.Glu1914=) c.5454G>A (p.Glu1818=) c.2982G>A (p.Glu994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732567G>C | CA405425227 | KMT2B | n.324G>C c.5952G>C (p.Glu1984Asp) c.3559G>C (n.3559G>C) c.1236G>C (p.Glu412Asp) n.1171G>C c.1239G>C (p.Glu413Asp) c.5560G>C c.6018G>C (p.Glu2006Asp) c.704+238G>C (n.704+238G>C) c.3340G>C c.5742G>C (p.Glu1914Asp) c.5454G>C (p.Glu1818Asp) c.2982G>C (p.Glu994Asp) | |
19 | g.35732567G= | CA2333794373 | KMT2B | n.324G= c.5952G= (p.Glu1984=) c.3559G= (n.3559G=) c.1236G= (p.Glu412=) n.1171G= c.1239G= (p.Glu413=) c.5560G= c.6018G= (p.Glu2006=) c.704+238G= (n.704+238G=) c.3340G= c.5742G= (p.Glu1914=) c.5454G= (p.Glu1818=) c.2982G= (p.Glu994=) | |
19 | g.35732567G>T | CA405425230 | KMT2B | n.324G>T c.5952G>T (p.Glu1984Asp) c.3559G>T (n.3559G>T) c.1236G>T (p.Glu412Asp) n.1171G>T c.1239G>T (p.Glu413Asp) c.5560G>T c.6018G>T (p.Glu2006Asp) c.704+238G>T (n.704+238G>T) c.3340G>T c.5742G>T (p.Glu1914Asp) c.5454G>T (p.Glu1818Asp) c.2982G>T (p.Glu994Asp) | |
19 | g.35732568A>C | CA405425232 | KMT2B | n.325A>C c.5953A>C (p.Ile1985Leu) c.3560A>C (n.3560A>C) c.1237A>C (p.Ile413Leu) n.1172A>C c.1240A>C (p.Ile414Leu) c.5561A>C c.6019A>C (p.Ile2007Leu) c.704+239A>C (n.704+239A>C) c.3341A>C c.5743A>C (p.Ile1915Leu) c.5455A>C (p.Ile1819Leu) c.2983A>C (p.Ile995Leu) | |
19 | g.35732568A>G | CA405425237 | KMT2B | n.325A>G c.5953A>G (p.Ile1985Val) c.3560A>G (n.3560A>G) c.1237A>G (p.Ile413Val) n.1172A>G c.1240A>G (p.Ile414Val) c.5561A>G c.6019A>G (p.Ile2007Val) c.704+239A>G (n.704+239A>G) c.3341A>G c.5743A>G (p.Ile1915Val) c.5455A>G (p.Ile1819Val) c.2983A>G (p.Ile995Val) | |
19 | g.35732568A>T | CA405425235 | KMT2B | n.325A>T c.5953A>T (p.Ile1985Phe) c.3560A>T (n.3560A>T) c.1237A>T (p.Ile413Phe) n.1172A>T c.1240A>T (p.Ile414Phe) c.5561A>T c.6019A>T (p.Ile2007Phe) c.704+239A>T (n.704+239A>T) c.3341A>T c.5743A>T (p.Ile1915Phe) c.5455A>T (p.Ile1819Phe) c.2983A>T (p.Ile995Phe) | |
19 | g.35732569T>A | CA405425242 | KMT2B | n.326T>A c.5954T>A (p.Ile1985Asn) c.3561T>A (n.3561T>A) c.1238T>A (p.Ile413Asn) n.1173T>A c.1241T>A (p.Ile414Asn) c.5562T>A c.6020T>A (p.Ile2007Asn) c.704+240T>A (n.704+240T>A) c.3342T>A c.5744T>A (p.Ile1915Asn) c.5456T>A (p.Ile1819Asn) c.2984T>A (p.Ile995Asn) | |
19 | g.35732569T>C | CA9385581 | KMT2B | n.326T>C c.5954T>C (p.Ile1985Thr) c.3561T>C (n.3561T>C) c.1238T>C (p.Ile413Thr) n.1173T>C c.1241T>C (p.Ile414Thr) c.5562T>C c.6020T>C (p.Ile2007Thr) c.704+240T>C (n.704+240T>C) c.3342T>C c.5744T>C (p.Ile1915Thr) c.5456T>C (p.Ile1819Thr) c.2984T>C (p.Ile995Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732569T>G | CA405425245 | KMT2B | n.326T>G c.5954T>G (p.Ile1985Ser) c.3561T>G (n.3561T>G) c.1238T>G (p.Ile413Ser) n.1173T>G c.1241T>G (p.Ile414Ser) c.5562T>G c.6020T>G (p.Ile2007Ser) c.704+240T>G (n.704+240T>G) c.3342T>G c.5744T>G (p.Ile1915Ser) c.5456T>G (p.Ile1819Ser) c.2984T>G (p.Ile995Ser) | |
19 | g.35732569T= | CA2333794374 | KMT2B | n.326T= c.5954T= (p.Ile1985=) c.3561T= (n.3561T=) c.1238T= (p.Ile413=) n.1173T= c.1241T= (p.Ile414=) c.5562T= c.6020T= (p.Ile2007=) c.704+240T= (n.704+240T=) c.3342T= c.5744T= (p.Ile1915=) c.5456T= (p.Ile1819=) c.2984T= (p.Ile995=) | |
19 | g.35732570T>A | CA507308213 | KMT2B | n.327T>A c.5955T>A (p.Ile1985=) c.3562T>A (n.3562T>A) c.1239T>A (p.Ile413=) n.1174T>A c.1242T>A (p.Ile414=) c.5563T>A c.6021T>A (p.Ile2007=) c.704+241T>A (n.704+241T>A) c.3343T>A c.5745T>A (p.Ile1915=) c.5457T>A (p.Ile1819=) c.2985T>A (p.Ile995=) | |
19 | g.35732570T>C | CA9385582 | KMT2B | n.327T>C c.5955T>C (p.Ile1985=) c.3562T>C (n.3562T>C) c.1239T>C (p.Ile413=) n.1174T>C c.1242T>C (p.Ile414=) c.5563T>C c.6021T>C (p.Ile2007=) c.704+241T>C (n.704+241T>C) c.3343T>C c.5745T>C (p.Ile1915=) c.5457T>C (p.Ile1819=) c.2985T>C (p.Ile995=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732570T>G | CA405425251 | KMT2B | n.327T>G c.5955T>G (p.Ile1985Met) c.3562T>G (n.3562T>G) c.1239T>G (p.Ile413Met) n.1174T>G c.1242T>G (p.Ile414Met) c.5563T>G c.6021T>G (p.Ile2007Met) c.704+241T>G (n.704+241T>G) c.3343T>G c.5745T>G (p.Ile1915Met) c.5457T>G (p.Ile1819Met) c.2985T>G (p.Ile995Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732570T= | CA2333794375 | KMT2B | n.327T= c.5955T= (p.Ile1985=) c.3562T= (n.3562T=) c.1239T= (p.Ile413=) n.1174T= c.1242T= (p.Ile414=) c.5563T= c.6021T= (p.Ile2007=) c.704+241T= (n.704+241T=) c.3343T= c.5745T= (p.Ile1915=) c.5457T= (p.Ile1819=) c.2985T= (p.Ile995=) | |
19 | g.35732571G>A | CA405425255 | KMT2B | n.328G>A c.5956G>A (p.Val1986Ile) c.3563G>A (n.3563G>A) c.1240G>A (p.Val414Ile) n.1175G>A c.1243G>A (p.Val415Ile) c.5564G>A c.6022G>A (p.Val2008Ile) c.704+242G>A (n.704+242G>A) c.3344G>A c.5746G>A (p.Val1916Ile) c.5458G>A (p.Val1820Ile) c.2986G>A (p.Val996Ile) | |
19 | g.35732571G>C | CA405425258 | KMT2B | n.328G>C c.5956G>C (p.Val1986Leu) c.3563G>C (n.3563G>C) c.1240G>C (p.Val414Leu) n.1175G>C c.1243G>C (p.Val415Leu) c.5564G>C c.6022G>C (p.Val2008Leu) c.704+242G>C (n.704+242G>C) c.3344G>C c.5746G>C (p.Val1916Leu) c.5458G>C (p.Val1820Leu) c.2986G>C (p.Val996Leu) | |
19 | g.35732571G= | CA2333794376 | KMT2B | n.328G= c.5956G= (p.Val1986=) c.3563G= (n.3563G=) c.1240G= (p.Val414=) n.1175G= c.1243G= (p.Val415=) c.5564G= c.6022G= (p.Val2008=) c.704+242G= (n.704+242G=) c.3344G= c.5746G= (p.Val1916=) c.5458G= (p.Val1820=) c.2986G= (p.Val996=) | |
19 | g.35732571G>T | CA9385583 | KMT2B | n.328G>T c.5956G>T (p.Val1986Leu) c.3563G>T (n.3563G>T) c.1240G>T (p.Val414Leu) n.1175G>T c.1243G>T (p.Val415Leu) c.5564G>T c.6022G>T (p.Val2008Leu) c.704+242G>T (n.704+242G>T) c.3344G>T c.5746G>T (p.Val1916Leu) c.5458G>T (p.Val1820Leu) c.2986G>T (p.Val996Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732572T>A | CA405425263 | KMT2B | n.329T>A c.5957T>A (p.Val1986Glu) c.3564T>A (n.3564T>A) c.1241T>A (p.Val414Glu) n.1176T>A c.1244T>A (p.Val415Glu) c.5565T>A c.6023T>A (p.Val2008Glu) c.704+243T>A (n.704+243T>A) c.3345T>A c.5747T>A (p.Val1916Glu) c.5459T>A (p.Val1820Glu) c.2987T>A (p.Val996Glu) | |
19 | g.35732572T>C | CA405425266 | KMT2B | n.329T>C c.5957T>C (p.Val1986Ala) c.3564T>C (n.3564T>C) c.1241T>C (p.Val414Ala) n.1176T>C c.1244T>C (p.Val415Ala) c.5565T>C c.6023T>C (p.Val2008Ala) c.704+243T>C (n.704+243T>C) c.3345T>C c.5747T>C (p.Val1916Ala) c.5459T>C (p.Val1820Ala) c.2987T>C (p.Val996Ala) | |
19 | g.35732572T>G | CA405425269 | KMT2B | n.329T>G c.5957T>G (p.Val1986Gly) c.3564T>G (n.3564T>G) c.1241T>G (p.Val414Gly) n.1176T>G c.1244T>G (p.Val415Gly) c.5565T>G c.6023T>G (p.Val2008Gly) c.704+243T>G (n.704+243T>G) c.3345T>G c.5747T>G (p.Val1916Gly) c.5459T>G (p.Val1820Gly) c.2987T>G (p.Val996Gly) | |
19 | g.35732573A= | CA2333794377 | KMT2B | n.330A= c.5958A= (p.Val1986=) c.3565A= (n.3565A=) c.1242A= (p.Val414=) n.1177A= c.1245A= (p.Val415=) c.5566A= c.6024A= (p.Val2008=) c.704+244A= (n.704+244A=) c.3346A= c.5748A= (p.Val1916=) c.5460A= (p.Val1820=) c.2988A= (p.Val996=) | |
19 | g.35732573A>C | CA507308218 | KMT2B | n.330A>C c.5958A>C (p.Val1986=) c.3565A>C (n.3565A>C) c.1242A>C (p.Val414=) n.1177A>C c.1245A>C (p.Val415=) c.5566A>C c.6024A>C (p.Val2008=) c.704+244A>C (n.704+244A>C) c.3346A>C c.5748A>C (p.Val1916=) c.5460A>C (p.Val1820=) c.2988A>C (p.Val996=) | |
19 | g.35732573A>G | CA9385584 | KMT2B | n.330A>G c.5958A>G (p.Val1986=) c.3565A>G (n.3565A>G) c.1242A>G (p.Val414=) n.1177A>G c.1245A>G (p.Val415=) c.5566A>G c.6024A>G (p.Val2008=) c.704+244A>G (n.704+244A>G) c.3346A>G c.5748A>G (p.Val1916=) c.5460A>G (p.Val1820=) c.2988A>G (p.Val996=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732573A>T | CA507308216 | KMT2B | n.330A>T c.5958A>T (p.Val1986=) c.3565A>T (n.3565A>T) c.1242A>T (p.Val414=) n.1177A>T c.1245A>T (p.Val415=) c.5566A>T c.6024A>T (p.Val2008=) c.704+244A>T (n.704+244A>T) c.3346A>T c.5748A>T (p.Val1916=) c.5460A>T (p.Val1820=) c.2988A>T (p.Val996=) | |
19 | g.35732574G>A | CA405425280 | KMT2B | n.331G>A c.5959G>A (p.Ala1987Thr) c.3566G>A (n.3566G>A) c.1243G>A (p.Ala415Thr) n.1178G>A c.1246G>A (p.Ala416Thr) c.5567G>A c.6025G>A (p.Ala2009Thr) c.704+245G>A (n.704+245G>A) c.3347G>A c.5749G>A (p.Ala1917Thr) c.5461G>A (p.Ala1821Thr) c.2989G>A (p.Ala997Thr) | |
19 | g.35732574G>C | CA405425283 | KMT2B | n.331G>C c.5959G>C (p.Ala1987Pro) c.3566G>C (n.3566G>C) c.1243G>C (p.Ala415Pro) n.1178G>C c.1246G>C (p.Ala416Pro) c.5567G>C c.6025G>C (p.Ala2009Pro) c.704+245G>C (n.704+245G>C) c.3347G>C c.5749G>C (p.Ala1917Pro) c.5461G>C (p.Ala1821Pro) c.2989G>C (p.Ala997Pro) | gnomAD v4 |
19 | g.35732574G>T | CA405425277 | KMT2B | n.331G>T c.5959G>T (p.Ala1987Ser) c.3566G>T (n.3566G>T) c.1243G>T (p.Ala415Ser) n.1178G>T c.1246G>T (p.Ala416Ser) c.5567G>T c.6025G>T (p.Ala2009Ser) c.704+245G>T (n.704+245G>T) c.3347G>T c.5749G>T (p.Ala1917Ser) c.5461G>T (p.Ala1821Ser) c.2989G>T (p.Ala997Ser) | |
19 | g.35732575C>A | CA405425287 | KMT2B | n.332C>A c.5960C>A (p.Ala1987Asp) c.3567C>A (n.3567C>A) c.1244C>A (p.Ala415Asp) n.1179C>A c.1247C>A (p.Ala416Asp) c.5568C>A c.6026C>A (p.Ala2009Asp) c.704+246C>A (n.704+246C>A) c.3348C>A c.5750C>A (p.Ala1917Asp) c.5462C>A (p.Ala1821Asp) c.2990C>A (p.Ala997Asp) | |
19 | g.35732575C>G | CA405425291 | KMT2B | n.332C>G c.5960C>G (p.Ala1987Gly) c.3567C>G (n.3567C>G) c.1244C>G (p.Ala415Gly) n.1179C>G c.1247C>G (p.Ala416Gly) c.5568C>G c.6026C>G (p.Ala2009Gly) c.704+246C>G (n.704+246C>G) c.3348C>G c.5750C>G (p.Ala1917Gly) c.5462C>G (p.Ala1821Gly) c.2990C>G (p.Ala997Gly) | |
19 | g.35732575C>T | CA405425288 | KMT2B | n.332C>T c.5960C>T (p.Ala1987Val) c.3567C>T (n.3567C>T) c.1244C>T (p.Ala415Val) n.1179C>T c.1247C>T (p.Ala416Val) c.5568C>T c.6026C>T (p.Ala2009Val) c.704+246C>T (n.704+246C>T) c.3348C>T c.5750C>T (p.Ala1917Val) c.5462C>T (p.Ala1821Val) c.2990C>T (p.Ala997Val) | gnomAD v4 COSMIC |
19 | g.35732576C>A | CA507308232 | KMT2B | n.333C>A c.5961C>A (p.Ala1987=) c.3568C>A (n.3568C>A) c.1245C>A (p.Ala415=) n.1180C>A c.1248C>A (p.Ala416=) c.5569C>A c.6027C>A (p.Ala2009=) c.704+247C>A (n.704+247C>A) c.3349C>A c.5751C>A (p.Ala1917=) c.5463C>A (p.Ala1821=) c.2991C>A (p.Ala997=) | |
19 | g.35732576C= | CA2333794378 | KMT2B | n.333C= c.5961C= (p.Ala1987=) c.3568C= (n.3568C=) c.1245C= (p.Ala415=) n.1180C= c.1248C= (p.Ala416=) c.5569C= c.6027C= (p.Ala2009=) c.704+247C= (n.704+247C=) c.3349C= c.5751C= (p.Ala1917=) c.5463C= (p.Ala1821=) c.2991C= (p.Ala997=) | |
19 | g.35732576C>G | CA307796070 | KMT2B | n.333C>G c.5961C>G (p.Ala1987=) c.3568C>G (n.3568C>G) c.1245C>G (p.Ala415=) n.1180C>G c.1248C>G (p.Ala416=) c.5569C>G c.6027C>G (p.Ala2009=) c.704+247C>G (n.704+247C>G) c.3349C>G c.5751C>G (p.Ala1917=) c.5463C>G (p.Ala1821=) c.2991C>G (p.Ala997=) | dbSNP gnomAD v4 |
19 | g.35732576C>T | CA9385585 | KMT2B | n.333C>T c.5961C>T (p.Ala1987=) c.3568C>T (n.3568C>T) c.1245C>T (p.Ala415=) n.1180C>T c.1248C>T (p.Ala416=) c.5569C>T c.6027C>T (p.Ala2009=) c.704+247C>T (n.704+247C>T) c.3349C>T c.5751C>T (p.Ala1917=) c.5463C>T (p.Ala1821=) c.2991C>T (p.Ala997=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732577G>A | CA9385587 | KMT2B | n.334G>A c.5962G>A (p.Ala1988Thr) c.3569G>A (n.3569G>A) c.1246G>A (p.Ala416Thr) n.1181G>A c.1249G>A (p.Ala417Thr) c.5570G>A c.6028G>A (p.Ala2010Thr) c.704+248G>A (n.704+248G>A) c.3350G>A c.5752G>A (p.Ala1918Thr) c.5464G>A (p.Ala1822Thr) c.2992G>A (p.Ala998Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732577G>C | CA307796111 | KMT2B | n.334G>C c.5962G>C (p.Ala1988Pro) c.3569G>C (n.3569G>C) c.1246G>C (p.Ala416Pro) n.1181G>C c.1249G>C (p.Ala417Pro) c.5570G>C c.6028G>C (p.Ala2010Pro) c.704+248G>C (n.704+248G>C) c.3350G>C c.5752G>C (p.Ala1918Pro) c.5464G>C (p.Ala1822Pro) c.2992G>C (p.Ala998Pro) | ClinVar dbSNP |
19 | g.35732577G= | CA2333794379 | KMT2B | n.334G= c.5962G= (p.Ala1988=) c.3569G= (n.3569G=) c.1246G= (p.Ala416=) n.1181G= c.1249G= (p.Ala417=) c.5570G= c.6028G= (p.Ala2010=) c.704+248G= (n.704+248G=) c.3350G= c.5752G= (p.Ala1918=) c.5464G= (p.Ala1822=) c.2992G= (p.Ala998=) | |
19 | g.35732577G>T | CA9385586 | KMT2B | n.334G>T c.5962G>T (p.Ala1988Ser) c.3569G>T (n.3569G>T) c.1246G>T (p.Ala416Ser) n.1181G>T c.1249G>T (p.Ala417Ser) c.5570G>T c.6028G>T (p.Ala2010Ser) c.704+248G>T (n.704+248G>T) c.3350G>T c.5752G>T (p.Ala1918Ser) c.5464G>T (p.Ala1822Ser) c.2992G>T (p.Ala998Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732578C>A | CA405425308 | KMT2B | n.335C>A c.5963C>A (p.Ala1988Asp) c.3570C>A (n.3570C>A) c.1247C>A (p.Ala416Asp) n.1182C>A c.1250C>A (p.Ala417Asp) c.5571C>A c.6029C>A (p.Ala2010Asp) c.704+249C>A (n.704+249C>A) c.3351C>A c.5753C>A (p.Ala1918Asp) c.5465C>A (p.Ala1822Asp) c.2993C>A (p.Ala998Asp) | |
19 | g.35732578C= | CA2333794380 | KMT2B | n.335C= c.5963C= (p.Ala1988=) c.3570C= (n.3570C=) c.1247C= (p.Ala416=) n.1182C= c.1250C= (p.Ala417=) c.5571C= c.6029C= (p.Ala2010=) c.704+249C= (n.704+249C=) c.3351C= c.5753C= (p.Ala1918=) c.5465C= (p.Ala1822=) c.2993C= (p.Ala998=) | |
19 | g.35732578C>G | CA405425310 | KMT2B | n.335C>G c.5963C>G (p.Ala1988Gly) c.3570C>G (n.3570C>G) c.1247C>G (p.Ala416Gly) n.1182C>G c.1250C>G (p.Ala417Gly) c.5571C>G c.6029C>G (p.Ala2010Gly) c.704+249C>G (n.704+249C>G) c.3351C>G c.5753C>G (p.Ala1918Gly) c.5465C>G (p.Ala1822Gly) c.2993C>G (p.Ala998Gly) | |
19 | g.35732578C>T | CA9385588 | KMT2B | n.335C>T c.5963C>T (p.Ala1988Val) c.3570C>T (n.3570C>T) c.1247C>T (p.Ala416Val) n.1182C>T c.1250C>T (p.Ala417Val) c.5571C>T c.6029C>T (p.Ala2010Val) c.704+249C>T (n.704+249C>T) c.3351C>T c.5753C>T (p.Ala1918Val) c.5465C>T (p.Ala1822Val) c.2993C>T (p.Ala998Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |