Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35732794_35732815dup | CA658799186 | KMT2B | n.551_572dup c.6179_6200dup (p.Val2068HisfsTer25) c.3786_3807dup (n.3786_3807dup) c.1463_1484dup (p.Val496HisfsTer25) n.1398_1419dup c.1466_1487dup (p.Val497HisfsTer25) c.5787_5808dup c.6245_6266dup (p.Val2090HisfsTer25) c.704+465_704+486dup (n.704+465_704+486dup) c.3567_3588dup c.5969_5990dup (p.Val1998HisfsTer25) c.5681_5702dup (p.Val1902HisfsTer25) c.3209_3230dup (p.Val1078HisfsTer25) | ClinVar dbSNP |
19 | g.35732794_35732815del | CA2697556450 | KMT2B | n.551_572del c.6179_6200del (p.Gly2060GlufsTer2) c.3786_3807del (n.3786_3807del) c.1463_1484del (p.Gly488GlufsTer2) n.1398_1419del c.1466_1487del (p.Gly489GlufsTer2) c.5787_5808del c.6245_6266del (p.Gly2082GlufsTer2) c.704+465_704+486del (n.704+465_704+486del) c.3567_3588del c.5969_5990del (p.Gly1990GlufsTer2) c.5681_5702del (p.Gly1894GlufsTer2) c.3209_3230del (p.Gly1070GlufsTer2) | ClinVar |
19 | g.35732809G>A | CA405427386 | KMT2B | n.566G>A c.6194G>A (p.Gly2065Glu) c.3801G>A (n.3801G>A) c.1478G>A (p.Gly493Glu) n.1413G>A c.1481G>A (p.Gly494Glu) c.5802G>A c.6260G>A (p.Gly2087Glu) c.704+480G>A (n.704+480G>A) c.3582G>A c.5984G>A (p.Gly1995Glu) c.5696G>A (p.Gly1899Glu) c.3224G>A (p.Gly1075Glu) | |
19 | g.35732809G>C | CA405427387 | KMT2B | n.566G>C c.6194G>C (p.Gly2065Ala) c.3801G>C (n.3801G>C) c.1478G>C (p.Gly493Ala) n.1413G>C c.1481G>C (p.Gly494Ala) c.5802G>C c.6260G>C (p.Gly2087Ala) c.704+480G>C (n.704+480G>C) c.3582G>C c.5984G>C (p.Gly1995Ala) c.5696G>C (p.Gly1899Ala) c.3224G>C (p.Gly1075Ala) | |
19 | g.35732809G>T | CA405427388 | KMT2B | n.566G>T c.6194G>T (p.Gly2065Val) c.3801G>T (n.3801G>T) c.1478G>T (p.Gly493Val) n.1413G>T c.1481G>T (p.Gly494Val) c.5802G>T c.6260G>T (p.Gly2087Val) c.704+480G>T (n.704+480G>T) c.3582G>T c.5984G>T (p.Gly1995Val) c.5696G>T (p.Gly1899Val) c.3224G>T (p.Gly1075Val) | |
19 | g.35732810G>A | CA507308282 | KMT2B | n.567G>A c.6195G>A (p.Gly2065=) c.3802G>A (n.3802G>A) c.1479G>A (p.Gly493=) n.1414G>A c.1482G>A (p.Gly494=) c.5803G>A c.6261G>A (p.Gly2087=) c.704+481G>A (n.704+481G>A) c.3583G>A c.5985G>A (p.Gly1995=) c.5697G>A (p.Gly1899=) c.3225G>A (p.Gly1075=) | |
19 | g.35732810G>C | CA507308284 | KMT2B | n.567G>C c.6195G>C (p.Gly2065=) c.3802G>C (n.3802G>C) c.1479G>C (p.Gly493=) n.1414G>C c.1482G>C (p.Gly494=) c.5803G>C c.6261G>C (p.Gly2087=) c.704+481G>C (n.704+481G>C) c.3583G>C c.5985G>C (p.Gly1995=) c.5697G>C (p.Gly1899=) c.3225G>C (p.Gly1075=) | |
19 | g.35732810G>T | CA507308286 | KMT2B | n.567G>T c.6195G>T (p.Gly2065=) c.3802G>T (n.3802G>T) c.1479G>T (p.Gly493=) n.1414G>T c.1482G>T (p.Gly494=) c.5803G>T c.6261G>T (p.Gly2087=) c.704+481G>T (n.704+481G>T) c.3583G>T c.5985G>T (p.Gly1995=) c.5697G>T (p.Gly1899=) c.3225G>T (p.Gly1075=) | gnomAD v4 |
19 | g.35732811C>A | CA405427391 | KMT2B | n.568C>A c.6196C>A (p.Pro2066Thr) c.3803C>A (n.3803C>A) c.1480C>A (p.Pro494Thr) n.1415C>A c.1483C>A (p.Pro495Thr) c.5804C>A c.6262C>A (p.Pro2088Thr) c.704+482C>A (n.704+482C>A) c.3584C>A c.5986C>A (p.Pro1996Thr) c.5698C>A (p.Pro1900Thr) c.3226C>A (p.Pro1076Thr) | gnomAD v4 |
19 | g.35732811C= | CA2333794515 | KMT2B | n.568C= c.6196C= (p.Pro2066=) c.3803C= (n.3803C=) c.1480C= (p.Pro494=) n.1415C= c.1483C= (p.Pro495=) c.5804C= c.6262C= (p.Pro2088=) c.704+482C= (n.704+482C=) c.3584C= c.5986C= (p.Pro1996=) c.5698C= (p.Pro1900=) c.3226C= (p.Pro1076=) | |
19 | g.35732811C>G | CA405427394 | KMT2B | n.568C>G c.6196C>G (p.Pro2066Ala) c.3803C>G (n.3803C>G) c.1480C>G (p.Pro494Ala) n.1415C>G c.1483C>G (p.Pro495Ala) c.5804C>G c.6262C>G (p.Pro2088Ala) c.704+482C>G (n.704+482C>G) c.3584C>G c.5986C>G (p.Pro1996Ala) c.5698C>G (p.Pro1900Ala) c.3226C>G (p.Pro1076Ala) | |
19 | g.35732811C>T | CA9385647 | KMT2B | n.568C>T c.6196C>T (p.Pro2066Ser) c.3803C>T (n.3803C>T) c.1480C>T (p.Pro494Ser) n.1415C>T c.1483C>T (p.Pro495Ser) c.5804C>T c.6262C>T (p.Pro2088Ser) c.704+482C>T (n.704+482C>T) c.3584C>T c.5986C>T (p.Pro1996Ser) c.5698C>T (p.Pro1900Ser) c.3226C>T (p.Pro1076Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732812C>A | CA405427402 | KMT2B | n.569C>A c.6197C>A (p.Pro2066Gln) c.3804C>A (n.3804C>A) c.1481C>A (p.Pro494Gln) n.1416C>A c.1484C>A (p.Pro495Gln) c.5805C>A c.6263C>A (p.Pro2088Gln) c.704+483C>A (n.704+483C>A) c.3585C>A c.5987C>A (p.Pro1996Gln) c.5699C>A (p.Pro1900Gln) c.3227C>A (p.Pro1076Gln) | |
19 | g.35732812C>G | CA405427405 | KMT2B | n.569C>G c.6197C>G (p.Pro2066Arg) c.3804C>G (n.3804C>G) c.1481C>G (p.Pro494Arg) n.1416C>G c.1484C>G (p.Pro495Arg) c.5805C>G c.6263C>G (p.Pro2088Arg) c.704+483C>G (n.704+483C>G) c.3585C>G c.5987C>G (p.Pro1996Arg) c.5699C>G (p.Pro1900Arg) c.3227C>G (p.Pro1076Arg) | |
19 | g.35732812C>T | CA405427406 | KMT2B | n.569C>T c.6197C>T (p.Pro2066Leu) c.3804C>T (n.3804C>T) c.1481C>T (p.Pro494Leu) n.1416C>T c.1484C>T (p.Pro495Leu) c.5805C>T c.6263C>T (p.Pro2088Leu) c.704+483C>T (n.704+483C>T) c.3585C>T c.5987C>T (p.Pro1996Leu) c.5699C>T (p.Pro1900Leu) c.3227C>T (p.Pro1076Leu) | |
19 | g.35732812_35732815delinsCAGG | CA2333794516 | KMT2B | n.569_572delinsCAGG c.6197_6200delinsCAGG (p.Pro2066=) c.3804_3807delinsCAGG (n.3804_3807delinsCAGG) c.1481_1484delinsCAGG (p.Pro494=) n.1416_1419delinsCAGG c.1484_1487delinsCAGG (p.Pro495=) c.5805_5808delinsCAGG c.6263_6266delinsCAGG (p.Pro2088=) c.704+483_704+486delinsCAGG (n.704+483_704+486delinsCAGG) c.3585_3588delinsCAGG c.5987_5990delinsCAGG (p.Pro1996=) c.5699_5702delinsCAGG (p.Pro1900=) c.3227_3230delinsCAGG (p.Pro1076=) | |
19 | g.35732813A>C | CA507308293 | KMT2B | n.570A>C c.6198A>C (p.Pro2066=) c.3805A>C (n.3805A>C) c.1482A>C (p.Pro494=) n.1417A>C c.1485A>C (p.Pro495=) c.5806A>C c.6264A>C (p.Pro2088=) c.704+484A>C (n.704+484A>C) c.3586A>C c.5988A>C (p.Pro1996=) c.5700A>C (p.Pro1900=) c.3228A>C (p.Pro1076=) | |
19 | g.35732813A>G | CA507308291 | KMT2B | n.570A>G c.6198A>G (p.Pro2066=) c.3805A>G (n.3805A>G) c.1482A>G (p.Pro494=) n.1417A>G c.1485A>G (p.Pro495=) c.5806A>G c.6264A>G (p.Pro2088=) c.704+484A>G (n.704+484A>G) c.3586A>G c.5988A>G (p.Pro1996=) c.5700A>G (p.Pro1900=) c.3228A>G (p.Pro1076=) | |
19 | g.35732813A>T | CA507308289 | KMT2B | n.570A>T c.6198A>T (p.Pro2066=) c.3805A>T (n.3805A>T) c.1482A>T (p.Pro494=) n.1417A>T c.1485A>T (p.Pro495=) c.5806A>T c.6264A>T (p.Pro2088=) c.704+484A>T (n.704+484A>T) c.3586A>T c.5988A>T (p.Pro1996=) c.5700A>T (p.Pro1900=) c.3228A>T (p.Pro1076=) | |
19 | g.35732815_35732817del | CA9385648 | KMT2B | n.572_574del c.6200_6202del (p.Gly2067del) c.3807_3809del (n.3807_3809del) c.1484_1486del (p.Gly495del) n.1419_1421del c.1487_1489del (p.Gly496del) c.5808_5810del c.6266_6268del (p.Gly2089del) c.704+486_704+488del (n.704+486_704+488del) c.3588_3590del c.5990_5992del (p.Gly1997del) c.5702_5704del (p.Gly1901del) c.3230_3232del (p.Gly1077del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732814G>A | CA405427412 | KMT2B | n.571G>A c.6199G>A (p.Gly2067Arg) c.3806G>A (n.3806G>A) c.1483G>A (p.Gly495Arg) n.1418G>A c.1486G>A (p.Gly496Arg) c.5807G>A c.6265G>A (p.Gly2089Arg) c.704+485G>A (n.704+485G>A) c.3587G>A c.5989G>A (p.Gly1997Arg) c.5701G>A (p.Gly1901Arg) c.3229G>A (p.Gly1077Arg) | gnomAD v4 |
19 | g.35732814G>C | CA405427411 | KMT2B | n.571G>C c.6199G>C (p.Gly2067Arg) c.3806G>C (n.3806G>C) c.1483G>C (p.Gly495Arg) n.1418G>C c.1486G>C (p.Gly496Arg) c.5807G>C c.6265G>C (p.Gly2089Arg) c.704+485G>C (n.704+485G>C) c.3587G>C c.5989G>C (p.Gly1997Arg) c.5701G>C (p.Gly1901Arg) c.3229G>C (p.Gly1077Arg) | COSMIC |
19 | g.35732814G>T | CA405427408 | KMT2B | n.571G>T c.6199G>T (p.Gly2067Ter) c.3806G>T (n.3806G>T) c.1483G>T (p.Gly495Ter) n.1418G>T c.1486G>T (p.Gly496Ter) c.5807G>T c.6265G>T (p.Gly2089Ter) c.704+485G>T (n.704+485G>T) c.3587G>T c.5989G>T (p.Gly1997Ter) c.5701G>T (p.Gly1901Ter) c.3229G>T (p.Gly1077Ter) | gnomAD v4 |
19 | g.35732815dup | CA2838370623 | KMT2B | n.572dup c.6200dup (p.Val2068SerfsTer18) c.3807dup (n.3807dup) c.1484dup (p.Val496SerfsTer18) n.1419dup c.1487dup (p.Val497SerfsTer18) c.5808dup c.6266dup (p.Val2090SerfsTer18) c.704+486dup (n.704+486dup) c.3588dup c.5990dup (p.Val1998SerfsTer18) c.5702dup (p.Val1902SerfsTer18) c.3230dup (p.Val1078SerfsTer18) | |
19 | g.35732815G>A | CA405427413 | KMT2B | n.572G>A c.6200G>A (p.Gly2067Glu) c.3807G>A (n.3807G>A) c.1484G>A (p.Gly495Glu) n.1419G>A c.1487G>A (p.Gly496Glu) c.5808G>A c.6266G>A (p.Gly2089Glu) c.704+486G>A (n.704+486G>A) c.3588G>A c.5990G>A (p.Gly1997Glu) c.5702G>A (p.Gly1901Glu) c.3230G>A (p.Gly1077Glu) | gnomAD v4 |
19 | g.35732815G>C | CA9385649 | KMT2B | n.572G>C c.6200G>C (p.Gly2067Ala) c.3807G>C (n.3807G>C) c.1484G>C (p.Gly495Ala) n.1419G>C c.1487G>C (p.Gly496Ala) c.5808G>C c.6266G>C (p.Gly2089Ala) c.704+486G>C (n.704+486G>C) c.3588G>C c.5990G>C (p.Gly1997Ala) c.5702G>C (p.Gly1901Ala) c.3230G>C (p.Gly1077Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732815G= | CA2333794517 | KMT2B | n.572G= c.6200G= (p.Gly2067=) c.3807G= (n.3807G=) c.1484G= (p.Gly495=) n.1419G= c.1487G= (p.Gly496=) c.5808G= c.6266G= (p.Gly2089=) c.704+486G= (n.704+486G=) c.3588G= c.5990G= (p.Gly1997=) c.5702G= (p.Gly1901=) c.3230G= (p.Gly1077=) | |
19 | g.35732815G>T | CA405427414 | KMT2B | n.572G>T c.6200G>T (p.Gly2067Val) c.3807G>T (n.3807G>T) c.1484G>T (p.Gly495Val) n.1419G>T c.1487G>T (p.Gly496Val) c.5808G>T c.6266G>T (p.Gly2089Val) c.704+486G>T (n.704+486G>T) c.3588G>T c.5990G>T (p.Gly1997Val) c.5702G>T (p.Gly1901Val) c.3230G>T (p.Gly1077Val) | |
19 | g.35732816A>C | CA507308295 | KMT2B | n.573A>C c.6201A>C (p.Gly2067=) c.3808A>C (n.3808A>C) c.1485A>C (p.Gly495=) n.1420A>C c.1488A>C (p.Gly496=) c.5809A>C c.6267A>C (p.Gly2089=) c.704+487A>C (n.704+487A>C) c.3589A>C c.5991A>C (p.Gly1997=) c.5703A>C (p.Gly1901=) c.3231A>C (p.Gly1077=) | gnomAD v4 |
19 | g.35732816A>G | CA507308297 | KMT2B | n.573A>G c.6201A>G (p.Gly2067=) c.3808A>G (n.3808A>G) c.1485A>G (p.Gly495=) n.1420A>G c.1488A>G (p.Gly496=) c.5809A>G c.6267A>G (p.Gly2089=) c.704+487A>G (n.704+487A>G) c.3589A>G c.5991A>G (p.Gly1997=) c.5703A>G (p.Gly1901=) c.3231A>G (p.Gly1077=) | |
19 | g.35732816A>T | CA507308299 | KMT2B | n.573A>T c.6201A>T (p.Gly2067=) c.3808A>T (n.3808A>T) c.1485A>T (p.Gly495=) n.1420A>T c.1488A>T (p.Gly496=) c.5809A>T c.6267A>T (p.Gly2089=) c.704+487A>T (n.704+487A>T) c.3589A>T c.5991A>T (p.Gly1997=) c.5703A>T (p.Gly1901=) c.3231A>T (p.Gly1077=) | gnomAD v4 |
19 | g.35732817G>A | CA405427419 | KMT2B | n.574G>A c.6202G>A (p.Val2068Ile) c.3809G>A (n.3809G>A) c.1486G>A (p.Val496Ile) n.1421G>A c.1489G>A (p.Val497Ile) c.5810G>A c.6268G>A (p.Val2090Ile) c.704+488G>A (n.704+488G>A) c.3590G>A c.5992G>A (p.Val1998Ile) c.5704G>A (p.Val1902Ile) c.3232G>A (p.Val1078Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732817G>C | CA405427423 | KMT2B | n.574G>C c.6202G>C (p.Val2068Leu) c.3809G>C (n.3809G>C) c.1486G>C (p.Val496Leu) n.1421G>C c.1489G>C (p.Val497Leu) c.5810G>C c.6268G>C (p.Val2090Leu) c.704+488G>C (n.704+488G>C) c.3590G>C c.5992G>C (p.Val1998Leu) c.5704G>C (p.Val1902Leu) c.3232G>C (p.Val1078Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732817G= | CA2333794518 | KMT2B | n.574G= c.6202G= (p.Val2068=) c.3809G= (n.3809G=) c.1486G= (p.Val496=) n.1421G= c.1489G= (p.Val497=) c.5810G= c.6268G= (p.Val2090=) c.704+488G= (n.704+488G=) c.3590G= c.5992G= (p.Val1998=) c.5704G= (p.Val1902=) c.3232G= (p.Val1078=) | |
19 | g.35732817G>T | CA405427426 | KMT2B | n.574G>T c.6202G>T (p.Val2068Leu) c.3809G>T (n.3809G>T) c.1486G>T (p.Val496Leu) n.1421G>T c.1489G>T (p.Val497Leu) c.5810G>T c.6268G>T (p.Val2090Leu) c.704+488G>T (n.704+488G>T) c.3590G>T c.5992G>T (p.Val1998Leu) c.5704G>T (p.Val1902Leu) c.3232G>T (p.Val1078Leu) | gnomAD v4 |
19 | g.35732818T>A | CA405427430 | KMT2B | n.575T>A c.6203T>A (p.Val2068Glu) c.3810T>A (n.3810T>A) c.1487T>A (p.Val496Glu) n.1422T>A c.1490T>A (p.Val497Glu) c.5811T>A c.6269T>A (p.Val2090Glu) c.704+489T>A (n.704+489T>A) c.3591T>A c.5993T>A (p.Val1998Glu) c.5705T>A (p.Val1902Glu) c.3233T>A (p.Val1078Glu) | |
19 | g.35732818T>C | CA405427432 | KMT2B | n.575T>C c.6203T>C (p.Val2068Ala) c.3810T>C (n.3810T>C) c.1487T>C (p.Val496Ala) n.1422T>C c.1490T>C (p.Val497Ala) c.5811T>C c.6269T>C (p.Val2090Ala) c.704+489T>C (n.704+489T>C) c.3591T>C c.5993T>C (p.Val1998Ala) c.5705T>C (p.Val1902Ala) c.3233T>C (p.Val1078Ala) | |
19 | g.35732818T>G | CA405427436 | KMT2B | n.575T>G c.6203T>G (p.Val2068Gly) c.3810T>G (n.3810T>G) c.1487T>G (p.Val496Gly) n.1422T>G c.1490T>G (p.Val497Gly) c.5811T>G c.6269T>G (p.Val2090Gly) c.704+489T>G (n.704+489T>G) c.3591T>G c.5993T>G (p.Val1998Gly) c.5705T>G (p.Val1902Gly) c.3233T>G (p.Val1078Gly) | |
19 | g.35732819A>C | CA507308306 | KMT2B | n.576A>C c.6204A>C (p.Val2068=) c.3811A>C (n.3811A>C) c.1488A>C (p.Val496=) n.1423A>C c.1491A>C (p.Val497=) c.5812A>C c.6270A>C (p.Val2090=) c.704+490A>C (n.704+490A>C) c.3592A>C c.5994A>C (p.Val1998=) c.5706A>C (p.Val1902=) c.3234A>C (p.Val1078=) | |
19 | g.35732819A>G | CA507308309 | KMT2B | n.576A>G c.6204A>G (p.Val2068=) c.3811A>G (n.3811A>G) c.1488A>G (p.Val496=) n.1423A>G c.1491A>G (p.Val497=) c.5812A>G c.6270A>G (p.Val2090=) c.704+490A>G (n.704+490A>G) c.3592A>G c.5994A>G (p.Val1998=) c.5706A>G (p.Val1902=) c.3234A>G (p.Val1078=) | |
19 | g.35732819A>T | CA507308307 | KMT2B | n.576A>T c.6204A>T (p.Val2068=) c.3811A>T (n.3811A>T) c.1488A>T (p.Val496=) n.1423A>T c.1491A>T (p.Val497=) c.5812A>T c.6270A>T (p.Val2090=) c.704+490A>T (n.704+490A>T) c.3592A>T c.5994A>T (p.Val1998=) c.5706A>T (p.Val1902=) c.3234A>T (p.Val1078=) | |
19 | g.35732820G>A | CA405427440 | KMT2B | n.577G>A c.6205G>A (p.Val2069Ile) c.3812G>A (n.3812G>A) c.1489G>A (p.Val497Ile) n.1424G>A c.1492G>A (p.Val498Ile) c.5813G>A c.6271G>A (p.Val2091Ile) c.704+491G>A (n.704+491G>A) c.3593G>A c.5995G>A (p.Val1999Ile) c.5707G>A (p.Val1903Ile) c.3235G>A (p.Val1079Ile) | |
19 | g.35732820G>C | CA405427442 | KMT2B | n.577G>C c.6205G>C (p.Val2069Leu) c.3812G>C (n.3812G>C) c.1489G>C (p.Val497Leu) n.1424G>C c.1492G>C (p.Val498Leu) c.5813G>C c.6271G>C (p.Val2091Leu) c.704+491G>C (n.704+491G>C) c.3593G>C c.5995G>C (p.Val1999Leu) c.5707G>C (p.Val1903Leu) c.3235G>C (p.Val1079Leu) | |
19 | g.35732820G>T | CA405427445 | KMT2B | n.577G>T c.6205G>T (p.Val2069Phe) c.3812G>T (n.3812G>T) c.1489G>T (p.Val497Phe) n.1424G>T c.1492G>T (p.Val498Phe) c.5813G>T c.6271G>T (p.Val2091Phe) c.704+491G>T (n.704+491G>T) c.3593G>T c.5995G>T (p.Val1999Phe) c.5707G>T (p.Val1903Phe) c.3235G>T (p.Val1079Phe) | gnomAD v4 |
19 | g.35732821T>A | CA405427453 | KMT2B | n.578T>A c.6206T>A (p.Val2069Asp) c.3813T>A (n.3813T>A) c.1490T>A (p.Val497Asp) n.1425T>A c.1493T>A (p.Val498Asp) c.5814T>A c.6272T>A (p.Val2091Asp) c.704+492T>A (n.704+492T>A) c.3594T>A c.5996T>A (p.Val1999Asp) c.5708T>A (p.Val1903Asp) c.3236T>A (p.Val1079Asp) | |
19 | g.35732821T>C | CA405427451 | KMT2B | n.578T>C c.6206T>C (p.Val2069Ala) c.3813T>C (n.3813T>C) c.1490T>C (p.Val497Ala) n.1425T>C c.1493T>C (p.Val498Ala) c.5814T>C c.6272T>C (p.Val2091Ala) c.704+492T>C (n.704+492T>C) c.3594T>C c.5996T>C (p.Val1999Ala) c.5708T>C (p.Val1903Ala) c.3236T>C (p.Val1079Ala) | gnomAD v4 |
19 | g.35732821T>G | CA405427449 | KMT2B | n.578T>G c.6206T>G (p.Val2069Gly) c.3813T>G (n.3813T>G) c.1490T>G (p.Val497Gly) n.1425T>G c.1493T>G (p.Val498Gly) c.5814T>G c.6272T>G (p.Val2091Gly) c.704+492T>G (n.704+492T>G) c.3594T>G c.5996T>G (p.Val1999Gly) c.5708T>G (p.Val1903Gly) c.3236T>G (p.Val1079Gly) | gnomAD v4 |
19 | g.35732822C>A | CA507308319 | KMT2B | n.579C>A c.6207C>A (p.Val2069=) c.3814C>A (n.3814C>A) c.1491C>A (p.Val497=) n.1426C>A c.1494C>A (p.Val498=) c.5815C>A c.6273C>A (p.Val2091=) c.704+493C>A (n.704+493C>A) c.3595C>A c.5997C>A (p.Val1999=) c.5709C>A (p.Val1903=) c.3237C>A (p.Val1079=) | |
19 | g.35732822C>G | CA507308321 | KMT2B | n.579C>G c.6207C>G (p.Val2069=) c.3814C>G (n.3814C>G) c.1491C>G (p.Val497=) n.1426C>G c.1494C>G (p.Val498=) c.5815C>G c.6273C>G (p.Val2091=) c.704+493C>G (n.704+493C>G) c.3595C>G c.5997C>G (p.Val1999=) c.5709C>G (p.Val1903=) c.3237C>G (p.Val1079=) | |
19 | g.35732822C>T | CA507308324 | KMT2B | n.579C>T c.6207C>T (p.Val2069=) c.3814C>T (n.3814C>T) c.1491C>T (p.Val497=) n.1426C>T c.1494C>T (p.Val498=) c.5815C>T c.6273C>T (p.Val2091=) c.704+493C>T (n.704+493C>T) c.3595C>T c.5997C>T (p.Val1999=) c.5709C>T (p.Val1903=) c.3237C>T (p.Val1079=) | |
19 | g.35732823C>A | CA9385650 | KMT2B | n.580C>A c.6208C>A (p.Arg2070=) c.3815C>A (n.3815C>A) c.1492C>A (p.Arg498=) n.1427C>A c.1495C>A (p.Arg499=) c.5816C>A c.6274C>A (p.Arg2092=) c.704+494C>A (n.704+494C>A) c.3596C>A c.5998C>A (p.Arg2000=) c.5710C>A (p.Arg1904=) c.3238C>A (p.Arg1080=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732823C= | CA2333794519 | KMT2B | n.580C= c.6208C= (p.Arg2070=) c.3815C= (n.3815C=) c.1492C= (p.Arg498=) n.1427C= c.1495C= (p.Arg499=) c.5816C= c.6274C= (p.Arg2092=) c.704+494C= (n.704+494C=) c.3596C= c.5998C= (p.Arg2000=) c.5710C= (p.Arg1904=) c.3238C= (p.Arg1080=) | |
19 | g.35732823C>G | CA405427462 | KMT2B | n.580C>G c.6208C>G (p.Arg2070Gly) c.3815C>G (n.3815C>G) c.1492C>G (p.Arg498Gly) n.1427C>G c.1495C>G (p.Arg499Gly) c.5816C>G c.6274C>G (p.Arg2092Gly) c.704+494C>G (n.704+494C>G) c.3596C>G c.5998C>G (p.Arg2000Gly) c.5710C>G (p.Arg1904Gly) c.3238C>G (p.Arg1080Gly) | gnomAD v4 |
19 | g.35732823C>T | CA405427459 | KMT2B | n.580C>T c.6208C>T (p.Arg2070Trp) c.3815C>T (n.3815C>T) c.1492C>T (p.Arg498Trp) n.1427C>T c.1495C>T (p.Arg499Trp) c.5816C>T c.6274C>T (p.Arg2092Trp) c.704+494C>T (n.704+494C>T) c.3596C>T c.5998C>T (p.Arg2000Trp) c.5710C>T (p.Arg1904Trp) c.3238C>T (p.Arg1080Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732824G>A | CA307796553 | KMT2B | n.581G>A c.6209G>A (p.Arg2070Gln) c.3816G>A (n.3816G>A) c.1493G>A (p.Arg498Gln) n.1428G>A c.1496G>A (p.Arg499Gln) c.5817G>A c.6275G>A (p.Arg2092Gln) c.704+495G>A (n.704+495G>A) c.3597G>A c.5999G>A (p.Arg2000Gln) c.5711G>A (p.Arg1904Gln) c.3239G>A (p.Arg1080Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732824G>C | CA405427467 | KMT2B | n.581G>C c.6209G>C (p.Arg2070Pro) c.3816G>C (n.3816G>C) c.1493G>C (p.Arg498Pro) n.1428G>C c.1496G>C (p.Arg499Pro) c.5817G>C c.6275G>C (p.Arg2092Pro) c.704+495G>C (n.704+495G>C) c.3597G>C c.5999G>C (p.Arg2000Pro) c.5711G>C (p.Arg1904Pro) c.3239G>C (p.Arg1080Pro) | |
19 | g.35732824G= | CA2333794520 | KMT2B | n.581G= c.6209G= (p.Arg2070=) c.3816G= (n.3816G=) c.1493G= (p.Arg498=) n.1428G= c.1496G= (p.Arg499=) c.5817G= c.6275G= (p.Arg2092=) c.704+495G= (n.704+495G=) c.3597G= c.5999G= (p.Arg2000=) c.5711G= (p.Arg1904=) c.3239G= (p.Arg1080=) | |
19 | g.35732824G>T | CA405427470 | KMT2B | n.581G>T c.6209G>T (p.Arg2070Leu) c.3816G>T (n.3816G>T) c.1493G>T (p.Arg498Leu) n.1428G>T c.1496G>T (p.Arg499Leu) c.5817G>T c.6275G>T (p.Arg2092Leu) c.704+495G>T (n.704+495G>T) c.3597G>T c.5999G>T (p.Arg2000Leu) c.5711G>T (p.Arg1904Leu) c.3239G>T (p.Arg1080Leu) | gnomAD v4 |
19 | g.35732825G>A | CA9385652 | KMT2B | n.582G>A c.6210G>A (p.Arg2070=) c.3817G>A (n.3817G>A) c.1494G>A (p.Arg498=) n.1429G>A c.1497G>A (p.Arg499=) c.5818G>A c.6276G>A (p.Arg2092=) c.704+496G>A (n.704+496G>A) c.3598G>A c.6000G>A (p.Arg2000=) c.5712G>A (p.Arg1904=) c.3240G>A (p.Arg1080=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732825G>C | CA507308334 | KMT2B | n.582G>C c.6210G>C (p.Arg2070=) c.3817G>C (n.3817G>C) c.1494G>C (p.Arg498=) n.1429G>C c.1497G>C (p.Arg499=) c.5818G>C c.6276G>C (p.Arg2092=) c.704+496G>C (n.704+496G>C) c.3598G>C c.6000G>C (p.Arg2000=) c.5712G>C (p.Arg1904=) c.3240G>C (p.Arg1080=) | |
19 | g.35732825G= | CA2333794521 | KMT2B | n.582G= c.6210G= (p.Arg2070=) c.3817G= (n.3817G=) c.1494G= (p.Arg498=) n.1429G= c.1497G= (p.Arg499=) c.5818G= c.6276G= (p.Arg2092=) c.704+496G= (n.704+496G=) c.3598G= c.6000G= (p.Arg2000=) c.5712G= (p.Arg1904=) c.3240G= (p.Arg1080=) | |
19 | g.35732825G>T | CA9385651 | KMT2B | n.582G>T c.6210G>T (p.Arg2070=) c.3817G>T (n.3817G>T) c.1494G>T (p.Arg498=) n.1429G>T c.1497G>T (p.Arg499=) c.5818G>T c.6276G>T (p.Arg2092=) c.704+496G>T (n.704+496G>T) c.3598G>T c.6000G>T (p.Arg2000=) c.5712G>T (p.Arg1904=) c.3240G>T (p.Arg1080=) | dbSNP ExAC gnomAD v2 |
19 | g.35732826G>A | CA405427478 | KMT2B | n.583G>A c.6211G>A (p.Ala2071Thr) c.3818G>A (n.3818G>A) c.1495G>A (p.Ala499Thr) n.1430G>A c.1498G>A (p.Ala500Thr) c.5819G>A c.6277G>A (p.Ala2093Thr) c.704+497G>A (n.704+497G>A) c.3599G>A c.6001G>A (p.Ala2001Thr) c.5713G>A (p.Ala1905Thr) c.3241G>A (p.Ala1081Thr) | |
19 | g.35732826G>C | CA405427482 | KMT2B | n.583G>C c.6211G>C (p.Ala2071Pro) c.3818G>C (n.3818G>C) c.1495G>C (p.Ala499Pro) n.1430G>C c.1498G>C (p.Ala500Pro) c.5819G>C c.6277G>C (p.Ala2093Pro) c.704+497G>C (n.704+497G>C) c.3599G>C c.6001G>C (p.Ala2001Pro) c.5713G>C (p.Ala1905Pro) c.3241G>C (p.Ala1081Pro) | |
19 | g.35732826G>T | CA405427485 | KMT2B | n.583G>T c.6211G>T (p.Ala2071Ser) c.3818G>T (n.3818G>T) c.1495G>T (p.Ala499Ser) n.1430G>T c.1498G>T (p.Ala500Ser) c.5819G>T c.6277G>T (p.Ala2093Ser) c.704+497G>T (n.704+497G>T) c.3599G>T c.6001G>T (p.Ala2001Ser) c.5713G>T (p.Ala1905Ser) c.3241G>T (p.Ala1081Ser) | gnomAD v4 |
19 | g.35732827C>A | CA405427488 | KMT2B | n.584C>A c.6212C>A (p.Ala2071Glu) c.3819C>A (n.3819C>A) c.1496C>A (p.Ala499Glu) n.1431C>A c.1499C>A (p.Ala500Glu) c.5820C>A c.6278C>A (p.Ala2093Glu) c.704+498C>A (n.704+498C>A) c.3600C>A c.6002C>A (p.Ala2001Glu) c.5714C>A (p.Ala1905Glu) c.3242C>A (p.Ala1081Glu) | gnomAD v4 |
19 | g.35732827C>G | CA405427490 | KMT2B | n.584C>G c.6212C>G (p.Ala2071Gly) c.3819C>G (n.3819C>G) c.1496C>G (p.Ala499Gly) n.1431C>G c.1499C>G (p.Ala500Gly) c.5820C>G c.6278C>G (p.Ala2093Gly) c.704+498C>G (n.704+498C>G) c.3600C>G c.6002C>G (p.Ala2001Gly) c.5714C>G (p.Ala1905Gly) c.3242C>G (p.Ala1081Gly) | |
19 | g.35732827C>T | CA405427493 | KMT2B | n.584C>T c.6212C>T (p.Ala2071Val) c.3819C>T (n.3819C>T) c.1496C>T (p.Ala499Val) n.1431C>T c.1499C>T (p.Ala500Val) c.5820C>T c.6278C>T (p.Ala2093Val) c.704+498C>T (n.704+498C>T) c.3600C>T c.6002C>T (p.Ala2001Val) c.5714C>T (p.Ala1905Val) c.3242C>T (p.Ala1081Val) | gnomAD v4 |
19 | g.35732828A= | CA2333794522 | KMT2B | n.585A= c.6213A= (p.Ala2071=) c.3820A= (n.3820A=) c.1497A= (p.Ala499=) n.1432A= c.1500A= (p.Ala500=) c.5821A= c.6279A= (p.Ala2093=) c.704+499A= (n.704+499A=) c.3601A= c.6003A= (p.Ala2001=) c.5715A= (p.Ala1905=) c.3243A= (p.Ala1081=) | |
19 | g.35732828A>C | CA507308344 | KMT2B | n.585A>C c.6213A>C (p.Ala2071=) c.3820A>C (n.3820A>C) c.1497A>C (p.Ala499=) n.1432A>C c.1500A>C (p.Ala500=) c.5821A>C c.6279A>C (p.Ala2093=) c.704+499A>C (n.704+499A>C) c.3601A>C c.6003A>C (p.Ala2001=) c.5715A>C (p.Ala1905=) c.3243A>C (p.Ala1081=) | |
19 | g.35732828A>G | CA307796578 | KMT2B | n.585A>G c.6213A>G (p.Ala2071=) c.3820A>G (n.3820A>G) c.1497A>G (p.Ala499=) n.1432A>G c.1500A>G (p.Ala500=) c.5821A>G c.6279A>G (p.Ala2093=) c.704+499A>G (n.704+499A>G) c.3601A>G c.6003A>G (p.Ala2001=) c.5715A>G (p.Ala1905=) c.3243A>G (p.Ala1081=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732828A>T | CA507308340 | KMT2B | n.585A>T c.6213A>T (p.Ala2071=) c.3820A>T (n.3820A>T) c.1497A>T (p.Ala499=) n.1432A>T c.1500A>T (p.Ala500=) c.5821A>T c.6279A>T (p.Ala2093=) c.704+499A>T (n.704+499A>T) c.3601A>T c.6003A>T (p.Ala2001=) c.5715A>T (p.Ala1905=) c.3243A>T (p.Ala1081=) | |
19 | g.35732829G>A | CA405427503 | KMT2B | n.586G>A c.6214G>A (p.Gly2072Arg) c.3821G>A (n.3821G>A) c.1498G>A (p.Gly500Arg) n.1433G>A c.1501G>A (p.Gly501Arg) c.5822G>A c.6280G>A (p.Gly2094Arg) c.704+500G>A (n.704+500G>A) c.3602G>A c.6004G>A (p.Gly2002Arg) c.5716G>A (p.Gly1906Arg) c.3244G>A (p.Gly1082Arg) | gnomAD v4 |
19 | g.35732829G>C | CA405427500 | KMT2B | n.586G>C c.6214G>C (p.Gly2072Arg) c.3821G>C (n.3821G>C) c.1498G>C (p.Gly500Arg) n.1433G>C c.1501G>C (p.Gly501Arg) c.5822G>C c.6280G>C (p.Gly2094Arg) c.704+500G>C (n.704+500G>C) c.3602G>C c.6004G>C (p.Gly2002Arg) c.5716G>C (p.Gly1906Arg) c.3244G>C (p.Gly1082Arg) | |
19 | g.35732829G>T | CA405427497 | KMT2B | n.586G>T c.6214G>T (p.Gly2072Trp) c.3821G>T (n.3821G>T) c.1498G>T (p.Gly500Trp) n.1433G>T c.1501G>T (p.Gly501Trp) c.5822G>T c.6280G>T (p.Gly2094Trp) c.704+500G>T (n.704+500G>T) c.3602G>T c.6004G>T (p.Gly2002Trp) c.5716G>T (p.Gly1906Trp) c.3244G>T (p.Gly1082Trp) | |
19 | g.35732830G>A | CA405427506 | KMT2B | n.587G>A c.6215G>A (p.Gly2072Glu) c.3822G>A (n.3822G>A) c.1499G>A (p.Gly500Glu) n.1434G>A c.1502G>A (p.Gly501Glu) c.5823G>A c.6281G>A (p.Gly2094Glu) c.704+501G>A (n.704+501G>A) c.3603G>A c.6005G>A (p.Gly2002Glu) c.5717G>A (p.Gly1906Glu) c.3245G>A (p.Gly1082Glu) | |
19 | g.35732830G>C | CA405427507 | KMT2B | n.587G>C c.6215G>C (p.Gly2072Ala) c.3822G>C (n.3822G>C) c.1499G>C (p.Gly500Ala) n.1434G>C c.1502G>C (p.Gly501Ala) c.5823G>C c.6281G>C (p.Gly2094Ala) c.704+501G>C (n.704+501G>C) c.3603G>C c.6005G>C (p.Gly2002Ala) c.5717G>C (p.Gly1906Ala) c.3245G>C (p.Gly1082Ala) | |
19 | g.35732830G>T | CA405427512 | KMT2B | n.587G>T c.6215G>T (p.Gly2072Val) c.3822G>T (n.3822G>T) c.1499G>T (p.Gly500Val) n.1434G>T c.1502G>T (p.Gly501Val) c.5823G>T c.6281G>T (p.Gly2094Val) c.704+501G>T (n.704+501G>T) c.3603G>T c.6005G>T (p.Gly2002Val) c.5717G>T (p.Gly1906Val) c.3245G>T (p.Gly1082Val) | |
19 | g.35732831G>A | CA507308350 | KMT2B | n.588G>A c.6216G>A (p.Gly2072=) c.3823G>A (n.3823G>A) c.1500G>A (p.Gly500=) n.1435G>A c.1503G>A (p.Gly501=) c.5824G>A c.6282G>A (p.Gly2094=) c.704+502G>A (n.704+502G>A) c.3604G>A c.6006G>A (p.Gly2002=) c.5718G>A (p.Gly1906=) c.3246G>A (p.Gly1082=) | |
19 | g.35732831G>C | CA507308351 | KMT2B | n.588G>C c.6216G>C (p.Gly2072=) c.3823G>C (n.3823G>C) c.1500G>C (p.Gly500=) n.1435G>C c.1503G>C (p.Gly501=) c.5824G>C c.6282G>C (p.Gly2094=) c.704+502G>C (n.704+502G>C) c.3604G>C c.6006G>C (p.Gly2002=) c.5718G>C (p.Gly1906=) c.3246G>C (p.Gly1082=) | |
19 | g.35732831G>T | CA507308352 | KMT2B | n.588G>T c.6216G>T (p.Gly2072=) c.3823G>T (n.3823G>T) c.1500G>T (p.Gly500=) n.1435G>T c.1503G>T (p.Gly501=) c.5824G>T c.6282G>T (p.Gly2094=) c.704+502G>T (n.704+502G>T) c.3604G>T c.6006G>T (p.Gly2002=) c.5718G>T (p.Gly1906=) c.3246G>T (p.Gly1082=) | gnomAD v4 |
19 | g.35732832G>A | CA405427515 | KMT2B | n.589G>A c.6217G>A (p.Val2073Ile) c.3824G>A (n.3824G>A) c.1501G>A (p.Val501Ile) n.1436G>A c.1504G>A (p.Val502Ile) c.5825G>A c.6283G>A (p.Val2095Ile) c.704+503G>A (n.704+503G>A) c.3605G>A c.6007G>A (p.Val2003Ile) c.5719G>A (p.Val1907Ile) c.3247G>A (p.Val1083Ile) | |
19 | g.35732832G>C | CA405427517 | KMT2B | n.589G>C c.6217G>C (p.Val2073Leu) c.3824G>C (n.3824G>C) c.1501G>C (p.Val501Leu) n.1436G>C c.1504G>C (p.Val502Leu) c.5825G>C c.6283G>C (p.Val2095Leu) c.704+503G>C (n.704+503G>C) c.3605G>C c.6007G>C (p.Val2003Leu) c.5719G>C (p.Val1907Leu) c.3247G>C (p.Val1083Leu) | gnomAD v4 |
19 | g.35732832G>T | CA405427519 | KMT2B | n.589G>T c.6217G>T (p.Val2073Phe) c.3824G>T (n.3824G>T) c.1501G>T (p.Val501Phe) n.1436G>T c.1504G>T (p.Val502Phe) c.5825G>T c.6283G>T (p.Val2095Phe) c.704+503G>T (n.704+503G>T) c.3605G>T c.6007G>T (p.Val2003Phe) c.5719G>T (p.Val1907Phe) c.3247G>T (p.Val1083Phe) | gnomAD v4 |
19 | g.35732833T>A | CA405427522 | KMT2B | n.590T>A c.6218T>A (p.Val2073Asp) c.3825T>A (n.3825T>A) c.1502T>A (p.Val501Asp) n.1437T>A c.1505T>A (p.Val502Asp) c.5826T>A c.6284T>A (p.Val2095Asp) c.704+504T>A (n.704+504T>A) c.3606T>A c.6008T>A (p.Val2003Asp) c.5720T>A (p.Val1907Asp) c.3248T>A (p.Val1083Asp) | |
19 | g.35732833T>C | CA9385653 | KMT2B | n.590T>C c.6218T>C (p.Val2073Ala) c.3825T>C (n.3825T>C) c.1502T>C (p.Val501Ala) n.1437T>C c.1505T>C (p.Val502Ala) c.5826T>C c.6284T>C (p.Val2095Ala) c.704+504T>C (n.704+504T>C) c.3606T>C c.6008T>C (p.Val2003Ala) c.5720T>C (p.Val1907Ala) c.3248T>C (p.Val1083Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732833T>G | CA405427528 | KMT2B | n.590T>G c.6218T>G (p.Val2073Gly) c.3825T>G (n.3825T>G) c.1502T>G (p.Val501Gly) n.1437T>G c.1505T>G (p.Val502Gly) c.5826T>G c.6284T>G (p.Val2095Gly) c.704+504T>G (n.704+504T>G) c.3606T>G c.6008T>G (p.Val2003Gly) c.5720T>G (p.Val1907Gly) c.3248T>G (p.Val1083Gly) | dbSNP |
19 | g.35732833T= | CA2333794523 | KMT2B | n.590T= c.6218T= (p.Val2073=) c.3825T= (n.3825T=) c.1502T= (p.Val501=) n.1437T= c.1505T= (p.Val502=) c.5826T= c.6284T= (p.Val2095=) c.704+504T= (n.704+504T=) c.3606T= c.6008T= (p.Val2003=) c.5720T= (p.Val1907=) c.3248T= (p.Val1083=) | |
19 | g.35732834C>A | CA507308359 | KMT2B | n.591C>A c.6219C>A (p.Val2073=) c.3826C>A (n.3826C>A) c.1503C>A (p.Val501=) n.1438C>A c.1506C>A (p.Val502=) c.5827C>A c.6285C>A (p.Val2095=) c.704+505C>A (n.704+505C>A) c.3607C>A c.6009C>A (p.Val2003=) c.5721C>A (p.Val1907=) c.3249C>A (p.Val1083=) | |
19 | g.35732834C>G | CA507308360 | KMT2B | n.591C>G c.6219C>G (p.Val2073=) c.3826C>G (n.3826C>G) c.1503C>G (p.Val501=) n.1438C>G c.1506C>G (p.Val502=) c.5827C>G c.6285C>G (p.Val2095=) c.704+505C>G (n.704+505C>G) c.3607C>G c.6009C>G (p.Val2003=) c.5721C>G (p.Val1907=) c.3249C>G (p.Val1083=) | gnomAD v4 |
19 | g.35732834C>T | CA507308361 | KMT2B | n.591C>T c.6219C>T (p.Val2073=) c.3826C>T (n.3826C>T) c.1503C>T (p.Val501=) n.1438C>T c.1506C>T (p.Val502=) c.5827C>T c.6285C>T (p.Val2095=) c.704+505C>T (n.704+505C>T) c.3607C>T c.6009C>T (p.Val2003=) c.5721C>T (p.Val1907=) c.3249C>T (p.Val1083=) | gnomAD v4 |
19 | g.35732835C>A | CA405427532 | KMT2B | n.592C>A c.6220C>A (p.Leu2074Ile) c.3827C>A (n.3827C>A) c.1504C>A (p.Leu502Ile) n.1439C>A c.1507C>A (p.Leu503Ile) c.5828C>A c.6286C>A (p.Leu2096Ile) c.704+506C>A (n.704+506C>A) c.3608C>A c.6010C>A (p.Leu2004Ile) c.5722C>A (p.Leu1908Ile) c.3250C>A (p.Leu1084Ile) | |
19 | g.35732835C= | CA2333794524 | KMT2B | n.592C= c.6220C= (p.Leu2074=) c.3827C= (n.3827C=) c.1504C= (p.Leu502=) n.1439C= c.1507C= (p.Leu503=) c.5828C= c.6286C= (p.Leu2096=) c.704+506C= (n.704+506C=) c.3608C= c.6010C= (p.Leu2004=) c.5722C= (p.Leu1908=) c.3250C= (p.Leu1084=) | |
19 | g.35732835C>G | CA405427534 | KMT2B | n.592C>G c.6220C>G (p.Leu2074Val) c.3827C>G (n.3827C>G) c.1504C>G (p.Leu502Val) n.1439C>G c.1507C>G (p.Leu503Val) c.5828C>G c.6286C>G (p.Leu2096Val) c.704+506C>G (n.704+506C>G) c.3608C>G c.6010C>G (p.Leu2004Val) c.5722C>G (p.Leu1908Val) c.3250C>G (p.Leu1084Val) | gnomAD v4 |
19 | g.35732835C>T | CA405427537 | KMT2B | n.592C>T c.6220C>T (p.Leu2074Phe) c.3827C>T (n.3827C>T) c.1504C>T (p.Leu502Phe) n.1439C>T c.1507C>T (p.Leu503Phe) c.5828C>T c.6286C>T (p.Leu2096Phe) c.704+506C>T (n.704+506C>T) c.3608C>T c.6010C>T (p.Leu2004Phe) c.5722C>T (p.Leu1908Phe) c.3250C>T (p.Leu1084Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732836T>A | CA405427547 | KMT2B | n.593T>A c.6221T>A (p.Leu2074His) c.3828T>A (n.3828T>A) c.1505T>A (p.Leu502His) n.1440T>A c.1508T>A (p.Leu503His) c.5829T>A c.6287T>A (p.Leu2096His) c.704+507T>A (n.704+507T>A) c.3609T>A c.6011T>A (p.Leu2004His) c.5723T>A (p.Leu1908His) c.3251T>A (p.Leu1084His) | |
19 | g.35732836T>C | CA405427545 | KMT2B | n.593T>C c.6221T>C (p.Leu2074Pro) c.3828T>C (n.3828T>C) c.1505T>C (p.Leu502Pro) n.1440T>C c.1508T>C (p.Leu503Pro) c.5829T>C c.6287T>C (p.Leu2096Pro) c.704+507T>C (n.704+507T>C) c.3609T>C c.6011T>C (p.Leu2004Pro) c.5723T>C (p.Leu1908Pro) c.3251T>C (p.Leu1084Pro) | ClinVar gnomAD v4 |
19 | g.35732836T>G | CA405427541 | KMT2B | n.593T>G c.6221T>G (p.Leu2074Arg) c.3828T>G (n.3828T>G) c.1505T>G (p.Leu502Arg) n.1440T>G c.1508T>G (p.Leu503Arg) c.5829T>G c.6287T>G (p.Leu2096Arg) c.704+507T>G (n.704+507T>G) c.3609T>G c.6011T>G (p.Leu2004Arg) c.5723T>G (p.Leu1908Arg) c.3251T>G (p.Leu1084Arg) | |
19 | g.35732837T>A | CA507308366 | KMT2B | n.594T>A c.6222T>A (p.Leu2074=) c.3829T>A (n.3829T>A) c.1506T>A (p.Leu502=) n.1441T>A c.1509T>A (p.Leu503=) c.5830T>A c.6288T>A (p.Leu2096=) c.704+508T>A (n.704+508T>A) c.3610T>A c.6012T>A (p.Leu2004=) c.5724T>A (p.Leu1908=) c.3252T>A (p.Leu1084=) | |
19 | g.35732837T>C | CA507308368 | KMT2B | n.594T>C c.6222T>C (p.Leu2074=) c.3829T>C (n.3829T>C) c.1506T>C (p.Leu502=) n.1441T>C c.1509T>C (p.Leu503=) c.5830T>C c.6288T>C (p.Leu2096=) c.704+508T>C (n.704+508T>C) c.3610T>C c.6012T>C (p.Leu2004=) c.5724T>C (p.Leu1908=) c.3252T>C (p.Leu1084=) | |
19 | g.35732837T>G | CA507308370 | KMT2B | n.594T>G c.6222T>G (p.Leu2074=) c.3829T>G (n.3829T>G) c.1506T>G (p.Leu502=) n.1441T>G c.1509T>G (p.Leu503=) c.5830T>G c.6288T>G (p.Leu2096=) c.704+508T>G (n.704+508T>G) c.3610T>G c.6012T>G (p.Leu2004=) c.5724T>G (p.Leu1908=) c.3252T>G (p.Leu1084=) | |
19 | g.35732838G>A | CA405427551 | KMT2B | n.595G>A c.6223G>A (p.Gly2075Arg) c.3830G>A (n.3830G>A) c.1507G>A (p.Gly503Arg) n.1442G>A c.1510G>A (p.Gly504Arg) c.5831G>A c.6289G>A (p.Gly2097Arg) c.704+509G>A (n.704+509G>A) c.3611G>A c.6013G>A (p.Gly2005Arg) c.5725G>A (p.Gly1909Arg) c.3253G>A (p.Gly1085Arg) | |
19 | g.35732838G>C | CA405427553 | KMT2B | n.595G>C c.6223G>C (p.Gly2075Arg) c.3830G>C (n.3830G>C) c.1507G>C (p.Gly503Arg) n.1442G>C c.1510G>C (p.Gly504Arg) c.5831G>C c.6289G>C (p.Gly2097Arg) c.704+509G>C (n.704+509G>C) c.3611G>C c.6013G>C (p.Gly2005Arg) c.5725G>C (p.Gly1909Arg) c.3253G>C (p.Gly1085Arg) | |
19 | g.35732838G>T | CA405427556 | KMT2B | n.595G>T c.6223G>T (p.Gly2075Trp) c.3830G>T (n.3830G>T) c.1507G>T (p.Gly503Trp) n.1442G>T c.1510G>T (p.Gly504Trp) c.5831G>T c.6289G>T (p.Gly2097Trp) c.704+509G>T (n.704+509G>T) c.3611G>T c.6013G>T (p.Gly2005Trp) c.5725G>T (p.Gly1909Trp) c.3253G>T (p.Gly1085Trp) | |
19 | g.35732841dup | CA2841281988 | KMT2B | n.598dup c.6226dup (p.Ala2076GlyfsTer10) c.3833dup (n.3833dup) c.1510dup (p.Ala504GlyfsTer10) n.1445dup c.1513dup (p.Ala505GlyfsTer10) c.5834dup c.6292dup (p.Ala2098GlyfsTer10) c.704+512dup (n.704+512dup) c.3614dup c.6016dup (p.Ala2006GlyfsTer10) c.5728dup (p.Ala1910GlyfsTer10) c.3256dup (p.Ala1086GlyfsTer10) | |
19 | g.35732839G>A | CA405427565 | KMT2B | n.596G>A c.6224G>A (p.Gly2075Glu) c.3831G>A (n.3831G>A) c.1508G>A (p.Gly503Glu) n.1443G>A c.1511G>A (p.Gly504Glu) c.5832G>A c.6290G>A (p.Gly2097Glu) c.704+510G>A (n.704+510G>A) c.3612G>A c.6014G>A (p.Gly2005Glu) c.5726G>A (p.Gly1909Glu) c.3254G>A (p.Gly1085Glu) | dbSNP gnomAD v2 |
19 | g.35732839G>C | CA405427567 | KMT2B | n.596G>C c.6224G>C (p.Gly2075Ala) c.3831G>C (n.3831G>C) c.1508G>C (p.Gly503Ala) n.1443G>C c.1511G>C (p.Gly504Ala) c.5832G>C c.6290G>C (p.Gly2097Ala) c.704+510G>C (n.704+510G>C) c.3612G>C c.6014G>C (p.Gly2005Ala) c.5726G>C (p.Gly1909Ala) c.3254G>C (p.Gly1085Ala) | |
19 | g.35732839G= | CA2333794525 | KMT2B | n.596G= c.6224G= (p.Gly2075=) c.3831G= (n.3831G=) c.1508G= (p.Gly503=) n.1443G= c.1511G= (p.Gly504=) c.5832G= c.6290G= (p.Gly2097=) c.704+510G= (n.704+510G=) c.3612G= c.6014G= (p.Gly2005=) c.5726G= (p.Gly1909=) c.3254G= (p.Gly1085=) | |
19 | g.35732839G>T | CA405427570 | KMT2B | n.596G>T c.6224G>T (p.Gly2075Val) c.3831G>T (n.3831G>T) c.1508G>T (p.Gly503Val) n.1443G>T c.1511G>T (p.Gly504Val) c.5832G>T c.6290G>T (p.Gly2097Val) c.704+510G>T (n.704+510G>T) c.3612G>T c.6014G>T (p.Gly2005Val) c.5726G>T (p.Gly1909Val) c.3254G>T (p.Gly1085Val) | |
19 | g.35732840G>A | CA507308377 | KMT2B | n.597G>A c.6225G>A (p.Gly2075=) c.3832G>A (n.3832G>A) c.1509G>A (p.Gly503=) n.1444G>A c.1512G>A (p.Gly504=) c.5833G>A c.6291G>A (p.Gly2097=) c.704+511G>A (n.704+511G>A) c.3613G>A c.6015G>A (p.Gly2005=) c.5727G>A (p.Gly1909=) c.3255G>A (p.Gly1085=) | |
19 | g.35732840G>C | CA507308384 | KMT2B | n.597G>C c.6225G>C (p.Gly2075=) c.3832G>C (n.3832G>C) c.1509G>C (p.Gly503=) n.1444G>C c.1512G>C (p.Gly504=) c.5833G>C c.6291G>C (p.Gly2097=) c.704+511G>C (n.704+511G>C) c.3613G>C c.6015G>C (p.Gly2005=) c.5727G>C (p.Gly1909=) c.3255G>C (p.Gly1085=) | |
19 | g.35732840G>T | CA507308381 | KMT2B | n.597G>T c.6225G>T (p.Gly2075=) c.3832G>T (n.3832G>T) c.1509G>T (p.Gly503=) n.1444G>T c.1512G>T (p.Gly504=) c.5833G>T c.6291G>T (p.Gly2097=) c.704+511G>T (n.704+511G>T) c.3613G>T c.6015G>T (p.Gly2005=) c.5727G>T (p.Gly1909=) c.3255G>T (p.Gly1085=) | |
19 | g.35732841G>A | CA9385654 | KMT2B | n.598G>A c.6226G>A (p.Ala2076Thr) c.3833G>A (n.3833G>A) c.1510G>A (p.Ala504Thr) n.1445G>A c.1513G>A (p.Ala505Thr) c.5834G>A c.6292G>A (p.Ala2098Thr) c.704+512G>A (n.704+512G>A) c.3614G>A c.6016G>A (p.Ala2006Thr) c.5728G>A (p.Ala1910Thr) c.3256G>A (p.Ala1086Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732841G>C | CA405427575 | KMT2B | n.598G>C c.6226G>C (p.Ala2076Pro) c.3833G>C (n.3833G>C) c.1510G>C (p.Ala504Pro) n.1445G>C c.1513G>C (p.Ala505Pro) c.5834G>C c.6292G>C (p.Ala2098Pro) c.704+512G>C (n.704+512G>C) c.3614G>C c.6016G>C (p.Ala2006Pro) c.5728G>C (p.Ala1910Pro) c.3256G>C (p.Ala1086Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732841G= | CA2333794526 | KMT2B | n.598G= c.6226G= (p.Ala2076=) c.3833G= (n.3833G=) c.1510G= (p.Ala504=) n.1445G= c.1513G= (p.Ala505=) c.5834G= c.6292G= (p.Ala2098=) c.704+512G= (n.704+512G=) c.3614G= c.6016G= (p.Ala2006=) c.5728G= (p.Ala1910=) c.3256G= (p.Ala1086=) | |
19 | g.35732841G>T | CA405427577 | KMT2B | n.598G>T c.6226G>T (p.Ala2076Ser) c.3833G>T (n.3833G>T) c.1510G>T (p.Ala504Ser) n.1445G>T c.1513G>T (p.Ala505Ser) c.5834G>T c.6292G>T (p.Ala2098Ser) c.704+512G>T (n.704+512G>T) c.3614G>T c.6016G>T (p.Ala2006Ser) c.5728G>T (p.Ala1910Ser) c.3256G>T (p.Ala1086Ser) | dbSNP gnomAD v4 |
19 | g.35732842C>A | CA9385655 | KMT2B | n.599C>A c.6227C>A (p.Ala2076Asp) c.3834C>A (n.3834C>A) c.1511C>A (p.Ala504Asp) n.1446C>A c.1514C>A (p.Ala505Asp) c.5835C>A c.6293C>A (p.Ala2098Asp) c.704+513C>A (n.704+513C>A) c.3615C>A c.6017C>A (p.Ala2006Asp) c.5729C>A (p.Ala1910Asp) c.3257C>A (p.Ala1086Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732842C= | CA2333794527 | KMT2B | n.599C= c.6227C= (p.Ala2076=) c.3834C= (n.3834C=) c.1511C= (p.Ala504=) n.1446C= c.1514C= (p.Ala505=) c.5835C= c.6293C= (p.Ala2098=) c.704+513C= (n.704+513C=) c.3615C= c.6017C= (p.Ala2006=) c.5729C= (p.Ala1910=) c.3257C= (p.Ala1086=) | |
19 | g.35732842C>G | CA405427580 | KMT2B | n.599C>G c.6227C>G (p.Ala2076Gly) c.3834C>G (n.3834C>G) c.1511C>G (p.Ala504Gly) n.1446C>G c.1514C>G (p.Ala505Gly) c.5835C>G c.6293C>G (p.Ala2098Gly) c.704+513C>G (n.704+513C>G) c.3615C>G c.6017C>G (p.Ala2006Gly) c.5729C>G (p.Ala1910Gly) c.3257C>G (p.Ala1086Gly) | |
19 | g.35732842C>T | CA9385656 | KMT2B | n.599C>T c.6227C>T (p.Ala2076Val) c.3834C>T (n.3834C>T) c.1511C>T (p.Ala504Val) n.1446C>T c.1514C>T (p.Ala505Val) c.5835C>T c.6293C>T (p.Ala2098Val) c.704+513C>T (n.704+513C>T) c.3615C>T c.6017C>T (p.Ala2006Val) c.5729C>T (p.Ala1910Val) c.3257C>T (p.Ala1086Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732843T>A | CA507308386 | KMT2B | n.600T>A c.6228T>A (p.Ala2076=) c.3835T>A (n.3835T>A) c.1512T>A (p.Ala504=) n.1447T>A c.1515T>A (p.Ala505=) c.5836T>A c.6294T>A (p.Ala2098=) c.704+514T>A (n.704+514T>A) c.3616T>A c.6018T>A (p.Ala2006=) c.5730T>A (p.Ala1910=) c.3258T>A (p.Ala1086=) | dbSNP |
19 | g.35732843T>C | CA507308394 | KMT2B | n.600T>C c.6228T>C (p.Ala2076=) c.3835T>C (n.3835T>C) c.1512T>C (p.Ala504=) n.1447T>C c.1515T>C (p.Ala505=) c.5836T>C c.6294T>C (p.Ala2098=) c.704+514T>C (n.704+514T>C) c.3616T>C c.6018T>C (p.Ala2006=) c.5730T>C (p.Ala1910=) c.3258T>C (p.Ala1086=) | ClinVar gnomAD v4 |
19 | g.35732843T>G | CA507308396 | KMT2B | n.600T>G c.6228T>G (p.Ala2076=) c.3835T>G (n.3835T>G) c.1512T>G (p.Ala504=) n.1447T>G c.1515T>G (p.Ala505=) c.5836T>G c.6294T>G (p.Ala2098=) c.704+514T>G (n.704+514T>G) c.3616T>G c.6018T>G (p.Ala2006=) c.5730T>G (p.Ala1910=) c.3258T>G (p.Ala1086=) | |
19 | g.35732843T= | CA2333794528 | KMT2B | n.600T= c.6228T= (p.Ala2076=) c.3835T= (n.3835T=) c.1512T= (p.Ala504=) n.1447T= c.1515T= (p.Ala505=) c.5836T= c.6294T= (p.Ala2098=) c.704+514T= (n.704+514T=) c.3616T= c.6018T= (p.Ala2006=) c.5730T= (p.Ala1910=) c.3258T= (p.Ala1086=) | |
19 | g.35732844G>A | CA405427588 | KMT2B | n.601G>A c.6229G>A (p.Ala2077Thr) c.3836G>A (n.3836G>A) c.1513G>A (p.Ala505Thr) n.1448G>A c.1516G>A (p.Ala506Thr) c.5837G>A c.6295G>A (p.Ala2099Thr) c.704+515G>A (n.704+515G>A) c.3617G>A c.6019G>A (p.Ala2007Thr) c.5731G>A (p.Ala1911Thr) c.3259G>A (p.Ala1087Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732844G>C | CA405427590 | KMT2B | n.601G>C c.6229G>C (p.Ala2077Pro) c.3836G>C (n.3836G>C) c.1513G>C (p.Ala505Pro) n.1448G>C c.1516G>C (p.Ala506Pro) c.5837G>C c.6295G>C (p.Ala2099Pro) c.704+515G>C (n.704+515G>C) c.3617G>C c.6019G>C (p.Ala2007Pro) c.5731G>C (p.Ala1911Pro) c.3259G>C (p.Ala1087Pro) | |
19 | g.35732844G= | CA2333794529 | KMT2B | n.601G= c.6229G= (p.Ala2077=) c.3836G= (n.3836G=) c.1513G= (p.Ala505=) n.1448G= c.1516G= (p.Ala506=) c.5837G= c.6295G= (p.Ala2099=) c.704+515G= (n.704+515G=) c.3617G= c.6019G= (p.Ala2007=) c.5731G= (p.Ala1911=) c.3259G= (p.Ala1087=) | |
19 | g.35732844G>T | CA405427585 | KMT2B | n.601G>T c.6229G>T (p.Ala2077Ser) c.3836G>T (n.3836G>T) c.1513G>T (p.Ala505Ser) n.1448G>T c.1516G>T (p.Ala506Ser) c.5837G>T c.6295G>T (p.Ala2099Ser) c.704+515G>T (n.704+515G>T) c.3617G>T c.6019G>T (p.Ala2007Ser) c.5731G>T (p.Ala1911Ser) c.3259G>T (p.Ala1087Ser) | gnomAD v4 |
19 | g.35732845C>A | CA405427593 | KMT2B | n.602C>A c.6230C>A (p.Ala2077Glu) c.3837C>A (n.3837C>A) c.1514C>A (p.Ala505Glu) n.1449C>A c.1517C>A (p.Ala506Glu) c.5838C>A c.6296C>A (p.Ala2099Glu) c.704+516C>A (n.704+516C>A) c.3618C>A c.6020C>A (p.Ala2007Glu) c.5732C>A (p.Ala1911Glu) c.3260C>A (p.Ala1087Glu) | gnomAD v4 |
19 | g.35732845C= | CA2333794530 | KMT2B | n.602C= c.6230C= (p.Ala2077=) c.3837C= (n.3837C=) c.1514C= (p.Ala505=) n.1449C= c.1517C= (p.Ala506=) c.5838C= c.6296C= (p.Ala2099=) c.704+516C= (n.704+516C=) c.3618C= c.6020C= (p.Ala2007=) c.5732C= (p.Ala1911=) c.3260C= (p.Ala1087=) | |
19 | g.35732845C>G | CA405427596 | KMT2B | n.602C>G c.6230C>G (p.Ala2077Gly) c.3837C>G (n.3837C>G) c.1514C>G (p.Ala505Gly) n.1449C>G c.1517C>G (p.Ala506Gly) c.5838C>G c.6296C>G (p.Ala2099Gly) c.704+516C>G (n.704+516C>G) c.3618C>G c.6020C>G (p.Ala2007Gly) c.5732C>G (p.Ala1911Gly) c.3260C>G (p.Ala1087Gly) | |
19 | g.35732845C>T | CA9385657 | KMT2B | n.602C>T c.6230C>T (p.Ala2077Val) c.3837C>T (n.3837C>T) c.1514C>T (p.Ala505Val) n.1449C>T c.1517C>T (p.Ala506Val) c.5838C>T c.6296C>T (p.Ala2099Val) c.704+516C>T (n.704+516C>T) c.3618C>T c.6020C>T (p.Ala2007Val) c.5732C>T (p.Ala1911Val) c.3260C>T (p.Ala1087Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732845_35732846delinsTG | CA2580096825 | KMT2B | n.602_603delinsTG c.6230_6231delinsTG (p.Ala2077Val) c.3837_3838delinsTG (n.3837_3838delinsTG) c.1514_1515delinsTG (p.Ala505Val) n.1449_1450delinsTG c.1517_1518delinsTG (p.Ala506Val) c.5838_5839delinsTG c.6296_6297delinsTG (p.Ala2099Val) c.704+516_704+517delinsTG (n.704+516_704+517delinsTG) c.3618_3619delinsTG c.6020_6021delinsTG (p.Ala2007Val) c.5732_5733delinsTG (p.Ala1911Val) c.3260_3261delinsTG (p.Ala1087Val) | ClinVar |
19 | g.35732846A= | CA2333794531 | KMT2B | n.603A= c.6231A= (p.Ala2077=) c.3838A= (n.3838A=) c.1515A= (p.Ala505=) n.1450A= c.1518A= (p.Ala506=) c.5839A= c.6297A= (p.Ala2099=) c.704+517A= (n.704+517A=) c.3619A= c.6021A= (p.Ala2007=) c.5733A= (p.Ala1911=) c.3261A= (p.Ala1087=) | |
19 | g.35732846A>C | CA507308404 | KMT2B | n.603A>C c.6231A>C (p.Ala2077=) c.3838A>C (n.3838A>C) c.1515A>C (p.Ala505=) n.1450A>C c.1518A>C (p.Ala506=) c.5839A>C c.6297A>C (p.Ala2099=) c.704+517A>C (n.704+517A>C) c.3619A>C c.6021A>C (p.Ala2007=) c.5733A>C (p.Ala1911=) c.3261A>C (p.Ala1087=) | |
19 | g.35732846A>G | CA9385658 | KMT2B | n.603A>G c.6231A>G (p.Ala2077=) c.3838A>G (n.3838A>G) c.1515A>G (p.Ala505=) n.1450A>G c.1518A>G (p.Ala506=) c.5839A>G c.6297A>G (p.Ala2099=) c.704+517A>G (n.704+517A>G) c.3619A>G c.6021A>G (p.Ala2007=) c.5733A>G (p.Ala1911=) c.3261A>G (p.Ala1087=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732846A>T | CA507308406 | KMT2B | n.603A>T c.6231A>T (p.Ala2077=) c.3838A>T (n.3838A>T) c.1515A>T (p.Ala505=) n.1450A>T c.1518A>T (p.Ala506=) c.5839A>T c.6297A>T (p.Ala2099=) c.704+517A>T (n.704+517A>T) c.3619A>T c.6021A>T (p.Ala2007=) c.5733A>T (p.Ala1911=) c.3261A>T (p.Ala1087=) | |
19 | g.35732847G>A | CA405427611 | KMT2B | n.604G>A c.6232G>A (p.Gly2078Arg) c.3839G>A (n.3839G>A) c.1516G>A (p.Gly506Arg) n.1451G>A c.1519G>A (p.Gly507Arg) c.5840G>A c.6298G>A (p.Gly2100Arg) c.704+518G>A (n.704+518G>A) c.3620G>A c.6022G>A (p.Gly2008Arg) c.5734G>A (p.Gly1912Arg) c.3262G>A (p.Gly1088Arg) | gnomAD v4 |
19 | g.35732847G>C | CA405427609 | KMT2B | n.604G>C c.6232G>C (p.Gly2078Arg) c.3839G>C (n.3839G>C) c.1516G>C (p.Gly506Arg) n.1451G>C c.1519G>C (p.Gly507Arg) c.5840G>C c.6298G>C (p.Gly2100Arg) c.704+518G>C (n.704+518G>C) c.3620G>C c.6022G>C (p.Gly2008Arg) c.5734G>C (p.Gly1912Arg) c.3262G>C (p.Gly1088Arg) | |
19 | g.35732847G>T | CA405427606 | KMT2B | n.604G>T c.6232G>T (p.Gly2078Trp) c.3839G>T (n.3839G>T) c.1516G>T (p.Gly506Trp) n.1451G>T c.1519G>T (p.Gly507Trp) c.5840G>T c.6298G>T (p.Gly2100Trp) c.704+518G>T (n.704+518G>T) c.3620G>T c.6022G>T (p.Gly2008Trp) c.5734G>T (p.Gly1912Trp) c.3262G>T (p.Gly1088Trp) | gnomAD v4 |
19 | g.35732850del | CA2580096826 | KMT2B | n.607del c.6235del (p.Asp2079ThrfsTer18) c.3842del (n.3842del) c.1519del (p.Asp507ThrfsTer18) n.1454del c.1522del (p.Asp508ThrfsTer18) c.5843del c.6301del (p.Asp2101ThrfsTer18) c.704+521del (n.704+521del) c.3623del c.6025del (p.Asp2009ThrfsTer18) c.5737del (p.Asp1913ThrfsTer18) c.3265del (p.Asp1089ThrfsTer18) | ClinVar |
19 | g.35732848G>A | CA405427620 | KMT2B | n.605G>A c.6233G>A (p.Gly2078Glu) c.3840G>A (n.3840G>A) c.1517G>A (p.Gly506Glu) n.1452G>A c.1520G>A (p.Gly507Glu) c.5841G>A c.6299G>A (p.Gly2100Glu) c.704+519G>A (n.704+519G>A) c.3621G>A c.6023G>A (p.Gly2008Glu) c.5735G>A (p.Gly1912Glu) c.3263G>A (p.Gly1088Glu) | gnomAD v4 |
19 | g.35732848G>C | CA405427623 | KMT2B | n.605G>C c.6233G>C (p.Gly2078Ala) c.3840G>C (n.3840G>C) c.1517G>C (p.Gly506Ala) n.1452G>C c.1520G>C (p.Gly507Ala) c.5841G>C c.6299G>C (p.Gly2100Ala) c.704+519G>C (n.704+519G>C) c.3621G>C c.6023G>C (p.Gly2008Ala) c.5735G>C (p.Gly1912Ala) c.3263G>C (p.Gly1088Ala) | |
19 | g.35732848G>T | CA405427625 | KMT2B | n.605G>T c.6233G>T (p.Gly2078Val) c.3840G>T (n.3840G>T) c.1517G>T (p.Gly506Val) n.1452G>T c.1520G>T (p.Gly507Val) c.5841G>T c.6299G>T (p.Gly2100Val) c.704+519G>T (n.704+519G>T) c.3621G>T c.6023G>T (p.Gly2008Val) c.5735G>T (p.Gly1912Val) c.3263G>T (p.Gly1088Val) | |
19 | g.35732849G>A | CA507308417 | KMT2B | n.606G>A c.6234G>A (p.Gly2078=) c.3841G>A (n.3841G>A) c.1518G>A (p.Gly506=) n.1453G>A c.1521G>A (p.Gly507=) c.5842G>A c.6300G>A (p.Gly2100=) c.704+520G>A (n.704+520G>A) c.3622G>A c.6024G>A (p.Gly2008=) c.5736G>A (p.Gly1912=) c.3264G>A (p.Gly1088=) | dbSNP gnomAD v4 |
19 | g.35732849G>C | CA507308422 | KMT2B | n.606G>C c.6234G>C (p.Gly2078=) c.3841G>C (n.3841G>C) c.1518G>C (p.Gly506=) n.1453G>C c.1521G>C (p.Gly507=) c.5842G>C c.6300G>C (p.Gly2100=) c.704+520G>C (n.704+520G>C) c.3622G>C c.6024G>C (p.Gly2008=) c.5736G>C (p.Gly1912=) c.3264G>C (p.Gly1088=) | |
19 | g.35732849G= | CA2333794532 | KMT2B | n.606G= c.6234G= (p.Gly2078=) c.3841G= (n.3841G=) c.1518G= (p.Gly506=) n.1453G= c.1521G= (p.Gly507=) c.5842G= c.6300G= (p.Gly2100=) c.704+520G= (n.704+520G=) c.3622G= c.6024G= (p.Gly2008=) c.5736G= (p.Gly1912=) c.3264G= (p.Gly1088=) | |
19 | g.35732849G>T | CA507308415 | KMT2B | n.606G>T c.6234G>T (p.Gly2078=) c.3841G>T (n.3841G>T) c.1518G>T (p.Gly506=) n.1453G>T c.1521G>T (p.Gly507=) c.5842G>T c.6300G>T (p.Gly2100=) c.704+520G>T (n.704+520G>T) c.3622G>T c.6024G>T (p.Gly2008=) c.5736G>T (p.Gly1912=) c.3264G>T (p.Gly1088=) | gnomAD v4 |
19 | g.35732850G>A | CA9385660 | KMT2B | n.607G>A c.6235G>A (p.Asp2079Asn) c.3842G>A (n.3842G>A) c.1519G>A (p.Asp507Asn) n.1454G>A c.1522G>A (p.Asp508Asn) c.5843G>A c.6301G>A (p.Asp2101Asn) c.704+521G>A (n.704+521G>A) c.3623G>A c.6025G>A (p.Asp2009Asn) c.5737G>A (p.Asp1913Asn) c.3265G>A (p.Asp1089Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732850G>C | CA9385659 | KMT2B | n.607G>C c.6235G>C (p.Asp2079His) c.3842G>C (n.3842G>C) c.1519G>C (p.Asp507His) n.1454G>C c.1522G>C (p.Asp508His) c.5843G>C c.6301G>C (p.Asp2101His) c.704+521G>C (n.704+521G>C) c.3623G>C c.6025G>C (p.Asp2009His) c.5737G>C (p.Asp1913His) c.3265G>C (p.Asp1089His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732850G= | CA2333794533 | KMT2B | n.607G= c.6235G= (p.Asp2079=) c.3842G= (n.3842G=) c.1519G= (p.Asp507=) n.1454G= c.1522G= (p.Asp508=) c.5843G= c.6301G= (p.Asp2101=) c.704+521G= (n.704+521G=) c.3623G= c.6025G= (p.Asp2009=) c.5737G= (p.Asp1913=) c.3265G= (p.Asp1089=) | |
19 | g.35732850G>T | CA405427633 | KMT2B | n.607G>T c.6235G>T (p.Asp2079Tyr) c.3842G>T (n.3842G>T) c.1519G>T (p.Asp507Tyr) n.1454G>T c.1522G>T (p.Asp508Tyr) c.5843G>T c.6301G>T (p.Asp2101Tyr) c.704+521G>T (n.704+521G>T) c.3623G>T c.6025G>T (p.Asp2009Tyr) c.5737G>T (p.Asp1913Tyr) c.3265G>T (p.Asp1089Tyr) | gnomAD v4 |
19 | g.35732851A>C | CA405427642 | KMT2B | n.608A>C c.6236A>C (p.Asp2079Ala) c.3843A>C (n.3843A>C) c.1520A>C (p.Asp507Ala) n.1455A>C c.1523A>C (p.Asp508Ala) c.5844A>C c.6302A>C (p.Asp2101Ala) c.704+522A>C (n.704+522A>C) c.3624A>C c.6026A>C (p.Asp2009Ala) c.5738A>C (p.Asp1913Ala) c.3266A>C (p.Asp1089Ala) | |
19 | g.35732851A>G | CA405427639 | KMT2B | n.608A>G c.6236A>G (p.Asp2079Gly) c.3843A>G (n.3843A>G) c.1520A>G (p.Asp507Gly) n.1455A>G c.1523A>G (p.Asp508Gly) c.5844A>G c.6302A>G (p.Asp2101Gly) c.704+522A>G (n.704+522A>G) c.3624A>G c.6026A>G (p.Asp2009Gly) c.5738A>G (p.Asp1913Gly) c.3266A>G (p.Asp1089Gly) | |
19 | g.35732851A>T | CA405427636 | KMT2B | n.608A>T c.6236A>T (p.Asp2079Val) c.3843A>T (n.3843A>T) c.1520A>T (p.Asp507Val) n.1455A>T c.1523A>T (p.Asp508Val) c.5844A>T c.6302A>T (p.Asp2101Val) c.704+522A>T (n.704+522A>T) c.3624A>T c.6026A>T (p.Asp2009Val) c.5738A>T (p.Asp1913Val) c.3266A>T (p.Asp1089Val) | |
19 | g.35732852C>A | CA405427645 | KMT2B | n.609C>A c.6237C>A (p.Asp2079Glu) c.3844C>A (n.3844C>A) c.1521C>A (p.Asp507Glu) n.1456C>A c.1524C>A (p.Asp508Glu) c.5845C>A c.6303C>A (p.Asp2101Glu) c.704+523C>A (n.704+523C>A) c.3625C>A c.6027C>A (p.Asp2009Glu) c.5739C>A (p.Asp1913Glu) c.3267C>A (p.Asp1089Glu) | |
19 | g.35732852C= | CA2333794534 | KMT2B | n.609C= c.6237C= (p.Asp2079=) c.3844C= (n.3844C=) c.1521C= (p.Asp507=) n.1456C= c.1524C= (p.Asp508=) c.5845C= c.6303C= (p.Asp2101=) c.704+523C= (n.704+523C=) c.3625C= c.6027C= (p.Asp2009=) c.5739C= (p.Asp1913=) c.3267C= (p.Asp1089=) | |
19 | g.35732852C>G | CA405427647 | KMT2B | n.609C>G c.6237C>G (p.Asp2079Glu) c.3844C>G (n.3844C>G) c.1521C>G (p.Asp507Glu) n.1456C>G c.1524C>G (p.Asp508Glu) c.5845C>G c.6303C>G (p.Asp2101Glu) c.704+523C>G (n.704+523C>G) c.3625C>G c.6027C>G (p.Asp2009Glu) c.5739C>G (p.Asp1913Glu) c.3267C>G (p.Asp1089Glu) | |
19 | g.35732852C>T | CA9385661 | KMT2B | n.609C>T c.6237C>T (p.Asp2079=) c.3844C>T (n.3844C>T) c.1521C>T (p.Asp507=) n.1456C>T c.1524C>T (p.Asp508=) c.5845C>T c.6303C>T (p.Asp2101=) c.704+523C>T (n.704+523C>T) c.3625C>T c.6027C>T (p.Asp2009=) c.5739C>T (p.Asp1913=) c.3267C>T (p.Asp1089=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732853A= | CA2333794535 | KMT2B | n.610A= c.6238A= (p.Arg2080=) c.3845A= (n.3845A=) c.1522A= (p.Arg508=) n.1457A= c.1525A= (p.Arg509=) c.5846A= c.6304A= (p.Arg2102=) c.704+524A= (n.704+524A=) c.3626A= c.6028A= (p.Arg2010=) c.5740A= (p.Arg1914=) c.3268A= (p.Arg1090=) | |
19 | g.35732853A>C | CA507308438 | KMT2B | n.610A>C c.6238A>C (p.Arg2080=) c.3845A>C (n.3845A>C) c.1522A>C (p.Arg508=) n.1457A>C c.1525A>C (p.Arg509=) c.5846A>C c.6304A>C (p.Arg2102=) c.704+524A>C (n.704+524A>C) c.3626A>C c.6028A>C (p.Arg2010=) c.5740A>C (p.Arg1914=) c.3268A>C (p.Arg1090=) | |
19 | g.35732853A>G | CA9385662 | KMT2B | n.610A>G c.6238A>G (p.Arg2080Gly) c.3845A>G (n.3845A>G) c.1522A>G (p.Arg508Gly) n.1457A>G c.1525A>G (p.Arg509Gly) c.5846A>G c.6304A>G (p.Arg2102Gly) c.704+524A>G (n.704+524A>G) c.3626A>G c.6028A>G (p.Arg2010Gly) c.5740A>G (p.Arg1914Gly) c.3268A>G (p.Arg1090Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732853A>T | CA405427651 | KMT2B | n.610A>T c.6238A>T (p.Arg2080Trp) c.3845A>T (n.3845A>T) c.1522A>T (p.Arg508Trp) n.1457A>T c.1525A>T (p.Arg509Trp) c.5846A>T c.6304A>T (p.Arg2102Trp) c.704+524A>T (n.704+524A>T) c.3626A>T c.6028A>T (p.Arg2010Trp) c.5740A>T (p.Arg1914Trp) c.3268A>T (p.Arg1090Trp) | |
19 | g.35732854G>A | CA405427659 | KMT2B | n.611G>A c.6239G>A (p.Arg2080Lys) c.3846G>A (n.3846G>A) c.1523G>A (p.Arg508Lys) n.1458G>A c.1526G>A (p.Arg509Lys) c.5847G>A c.6305G>A (p.Arg2102Lys) c.704+525G>A (n.704+525G>A) c.3627G>A c.6029G>A (p.Arg2010Lys) c.5741G>A (p.Arg1914Lys) c.3269G>A (p.Arg1090Lys) | |
19 | g.35732854G>C | CA405427665 | KMT2B | n.611G>C c.6239G>C (p.Arg2080Thr) c.3846G>C (n.3846G>C) c.1523G>C (p.Arg508Thr) n.1458G>C c.1526G>C (p.Arg509Thr) c.5847G>C c.6305G>C (p.Arg2102Thr) c.704+525G>C (n.704+525G>C) c.3627G>C c.6029G>C (p.Arg2010Thr) c.5741G>C (p.Arg1914Thr) c.3269G>C (p.Arg1090Thr) | |
19 | g.35732854G>T | CA405427662 | KMT2B | n.611G>T c.6239G>T (p.Arg2080Met) c.3846G>T (n.3846G>T) c.1523G>T (p.Arg508Met) n.1458G>T c.1526G>T (p.Arg509Met) c.5847G>T c.6305G>T (p.Arg2102Met) c.704+525G>T (n.704+525G>T) c.3627G>T c.6029G>T (p.Arg2010Met) c.5741G>T (p.Arg1914Met) c.3269G>T (p.Arg1090Met) | COSMIC |
19 | g.35732855G>A | CA507308441 | KMT2B | n.612G>A c.6240G>A (p.Arg2080=) c.3847G>A (n.3847G>A) c.1524G>A (p.Arg508=) n.1459G>A c.1527G>A (p.Arg509=) c.5848G>A c.6306G>A (p.Arg2102=) c.704+526G>A (n.704+526G>A) c.3628G>A c.6030G>A (p.Arg2010=) c.5742G>A (p.Arg1914=) c.3270G>A (p.Arg1090=) | gnomAD v4 |
19 | g.35732855G>C | CA405427668 | KMT2B | n.612G>C c.6240G>C (p.Arg2080Ser) c.3847G>C (n.3847G>C) c.1524G>C (p.Arg508Ser) n.1459G>C c.1527G>C (p.Arg509Ser) c.5848G>C c.6306G>C (p.Arg2102Ser) c.704+526G>C (n.704+526G>C) c.3628G>C c.6030G>C (p.Arg2010Ser) c.5742G>C (p.Arg1914Ser) c.3270G>C (p.Arg1090Ser) | |
19 | g.35732855G>T | CA405427671 | KMT2B | n.612G>T c.6240G>T (p.Arg2080Ser) c.3847G>T (n.3847G>T) c.1524G>T (p.Arg508Ser) n.1459G>T c.1527G>T (p.Arg509Ser) c.5848G>T c.6306G>T (p.Arg2102Ser) c.704+526G>T (n.704+526G>T) c.3628G>T c.6030G>T (p.Arg2010Ser) c.5742G>T (p.Arg1914Ser) c.3270G>T (p.Arg1090Ser) | |
19 | g.35732856G>A | CA405427674 | KMT2B | n.613G>A c.6241G>A (p.Ala2081Thr) c.3848G>A (n.3848G>A) c.1525G>A (p.Ala509Thr) n.1460G>A c.1528G>A (p.Ala510Thr) c.5849G>A c.6307G>A (p.Ala2103Thr) c.704+527G>A (n.704+527G>A) c.3629G>A c.6031G>A (p.Ala2011Thr) c.5743G>A (p.Ala1915Thr) c.3271G>A (p.Ala1091Thr) | |
19 | g.35732856G>C | CA405427676 | KMT2B | n.613G>C c.6241G>C (p.Ala2081Pro) c.3848G>C (n.3848G>C) c.1525G>C (p.Ala509Pro) n.1460G>C c.1528G>C (p.Ala510Pro) c.5849G>C c.6307G>C (p.Ala2103Pro) c.704+527G>C (n.704+527G>C) c.3629G>C c.6031G>C (p.Ala2011Pro) c.5743G>C (p.Ala1915Pro) c.3271G>C (p.Ala1091Pro) | |
19 | g.35732856G>T | CA405427679 | KMT2B | n.613G>T c.6241G>T (p.Ala2081Ser) c.3848G>T (n.3848G>T) c.1525G>T (p.Ala509Ser) n.1460G>T c.1528G>T (p.Ala510Ser) c.5849G>T c.6307G>T (p.Ala2103Ser) c.704+527G>T (n.704+527G>T) c.3629G>T c.6031G>T (p.Ala2011Ser) c.5743G>T (p.Ala1915Ser) c.3271G>T (p.Ala1091Ser) | gnomAD v4 |
19 | g.35732857C>A | CA405427682 | KMT2B | n.614C>A c.6242C>A (p.Ala2081Asp) c.3849C>A (n.3849C>A) c.1526C>A (p.Ala509Asp) n.1461C>A c.1529C>A (p.Ala510Asp) c.5850C>A c.6308C>A (p.Ala2103Asp) c.704+528C>A (n.704+528C>A) c.3630C>A c.6032C>A (p.Ala2011Asp) c.5744C>A (p.Ala1915Asp) c.3272C>A (p.Ala1091Asp) | |
19 | g.35732857C>G | CA405427685 | KMT2B | n.614C>G c.6242C>G (p.Ala2081Gly) c.3849C>G (n.3849C>G) c.1526C>G (p.Ala509Gly) n.1461C>G c.1529C>G (p.Ala510Gly) c.5850C>G c.6308C>G (p.Ala2103Gly) c.704+528C>G (n.704+528C>G) c.3630C>G c.6032C>G (p.Ala2011Gly) c.5744C>G (p.Ala1915Gly) c.3272C>G (p.Ala1091Gly) | |
19 | g.35732857C>T | CA405427687 | KMT2B | n.614C>T c.6242C>T (p.Ala2081Val) c.3849C>T (n.3849C>T) c.1526C>T (p.Ala509Val) n.1461C>T c.1529C>T (p.Ala510Val) c.5850C>T c.6308C>T (p.Ala2103Val) c.704+528C>T (n.704+528C>T) c.3630C>T c.6032C>T (p.Ala2011Val) c.5744C>T (p.Ala1915Val) c.3272C>T (p.Ala1091Val) | gnomAD v4 COSMIC |
19 | g.35732858C>A | CA507308454 | KMT2B | n.615C>A c.6243C>A (p.Ala2081=) c.3850C>A (n.3850C>A) c.1527C>A (p.Ala509=) n.1462C>A c.1530C>A (p.Ala510=) c.5851C>A c.6309C>A (p.Ala2103=) c.704+529C>A (n.704+529C>A) c.3631C>A c.6033C>A (p.Ala2011=) c.5745C>A (p.Ala1915=) c.3273C>A (p.Ala1091=) | |
19 | g.35732858C>G | CA507308456 | KMT2B | n.615C>G c.6243C>G (p.Ala2081=) c.3850C>G (n.3850C>G) c.1527C>G (p.Ala509=) n.1462C>G c.1530C>G (p.Ala510=) c.5851C>G c.6309C>G (p.Ala2103=) c.704+529C>G (n.704+529C>G) c.3631C>G c.6033C>G (p.Ala2011=) c.5745C>G (p.Ala1915=) c.3273C>G (p.Ala1091=) | |
19 | g.35732858C>T | CA507308459 | KMT2B | n.615C>T c.6243C>T (p.Ala2081=) c.3850C>T (n.3850C>T) c.1527C>T (p.Ala509=) n.1462C>T c.1530C>T (p.Ala510=) c.5851C>T c.6309C>T (p.Ala2103=) c.704+529C>T (n.704+529C>T) c.3631C>T c.6033C>T (p.Ala2011=) c.5745C>T (p.Ala1915=) c.3273C>T (p.Ala1091=) | |
19 | g.35732859C>A | CA507308460 | KMT2B | n.616C>A c.6244C>A (p.Arg2082=) c.3851C>A (n.3851C>A) c.1528C>A (p.Arg510=) n.1463C>A c.1531C>A (p.Arg511=) c.5852C>A c.6310C>A (p.Arg2104=) c.704+530C>A (n.704+530C>A) c.3632C>A c.6034C>A (p.Arg2012=) c.5746C>A (p.Arg1916=) c.3274C>A (p.Arg1092=) | gnomAD v4 |
19 | g.35732859C= | CA2333794536 | KMT2B | n.616C= c.6244C= (p.Arg2082=) c.3851C= (n.3851C=) c.1528C= (p.Arg510=) n.1463C= c.1531C= (p.Arg511=) c.5852C= c.6310C= (p.Arg2104=) c.704+530C= (n.704+530C=) c.3632C= c.6034C= (p.Arg2012=) c.5746C= (p.Arg1916=) c.3274C= (p.Arg1092=) | |
19 | g.35732859C>G | CA405427690 | KMT2B | n.616C>G c.6244C>G (p.Arg2082Gly) c.3851C>G (n.3851C>G) c.1528C>G (p.Arg510Gly) n.1463C>G c.1531C>G (p.Arg511Gly) c.5852C>G c.6310C>G (p.Arg2104Gly) c.704+530C>G (n.704+530C>G) c.3632C>G c.6034C>G (p.Arg2012Gly) c.5746C>G (p.Arg1916Gly) c.3274C>G (p.Arg1092Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732859C>T | CA405427693 | KMT2B | n.616C>T c.6244C>T (p.Arg2082Trp) c.3851C>T (n.3851C>T) c.1528C>T (p.Arg510Trp) n.1463C>T c.1531C>T (p.Arg511Trp) c.5852C>T c.6310C>T (p.Arg2104Trp) c.704+530C>T (n.704+530C>T) c.3632C>T c.6034C>T (p.Arg2012Trp) c.5746C>T (p.Arg1916Trp) c.3274C>T (p.Arg1092Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732860G>A | CA9385663 | KMT2B | n.617G>A c.6245G>A (p.Arg2082Gln) c.3852G>A (n.3852G>A) c.1529G>A (p.Arg510Gln) n.1464G>A c.1532G>A (p.Arg511Gln) c.5853G>A c.6311G>A (p.Arg2104Gln) c.704+531G>A (n.704+531G>A) c.3633G>A c.6035G>A (p.Arg2012Gln) c.5747G>A (p.Arg1916Gln) c.3275G>A (p.Arg1092Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732860G>C | CA405427698 | KMT2B | n.617G>C c.6245G>C (p.Arg2082Pro) c.3852G>C (n.3852G>C) c.1529G>C (p.Arg510Pro) n.1464G>C c.1532G>C (p.Arg511Pro) c.5853G>C c.6311G>C (p.Arg2104Pro) c.704+531G>C (n.704+531G>C) c.3633G>C c.6035G>C (p.Arg2012Pro) c.5747G>C (p.Arg1916Pro) c.3275G>C (p.Arg1092Pro) | gnomAD v4 |
19 | g.35732860G= | CA2333794537 | KMT2B | n.617G= c.6245G= (p.Arg2082=) c.3852G= (n.3852G=) c.1529G= (p.Arg510=) n.1464G= c.1532G= (p.Arg511=) c.5853G= c.6311G= (p.Arg2104=) c.704+531G= (n.704+531G=) c.3633G= c.6035G= (p.Arg2012=) c.5747G= (p.Arg1916=) c.3275G= (p.Arg1092=) | |
19 | g.35732860G>T | CA405427701 | KMT2B | n.617G>T c.6245G>T (p.Arg2082Leu) c.3852G>T (n.3852G>T) c.1529G>T (p.Arg510Leu) n.1464G>T c.1532G>T (p.Arg511Leu) c.5853G>T c.6311G>T (p.Arg2104Leu) c.704+531G>T (n.704+531G>T) c.3633G>T c.6035G>T (p.Arg2012Leu) c.5747G>T (p.Arg1916Leu) c.3275G>T (p.Arg1092Leu) | gnomAD v4 |
19 | g.35732861G>A | CA507308474 | KMT2B | n.618G>A c.6246G>A (p.Arg2082=) c.3853G>A (n.3853G>A) c.1530G>A (p.Arg510=) n.1465G>A c.1533G>A (p.Arg511=) c.5854G>A c.6312G>A (p.Arg2104=) c.704+532G>A (n.704+532G>A) c.3634G>A c.6036G>A (p.Arg2012=) c.5748G>A (p.Arg1916=) c.3276G>A (p.Arg1092=) | dbSNP |
19 | g.35732861G>C | CA507308475 | KMT2B | n.618G>C c.6246G>C (p.Arg2082=) c.3853G>C (n.3853G>C) c.1530G>C (p.Arg510=) n.1465G>C c.1533G>C (p.Arg511=) c.5854G>C c.6312G>C (p.Arg2104=) c.704+532G>C (n.704+532G>C) c.3634G>C c.6036G>C (p.Arg2012=) c.5748G>C (p.Arg1916=) c.3276G>C (p.Arg1092=) | |
19 | g.35732861G= | CA2333794538 | KMT2B | n.618G= c.6246G= (p.Arg2082=) c.3853G= (n.3853G=) c.1530G= (p.Arg510=) n.1465G= c.1533G= (p.Arg511=) c.5854G= c.6312G= (p.Arg2104=) c.704+532G= (n.704+532G=) c.3634G= c.6036G= (p.Arg2012=) c.5748G= (p.Arg1916=) c.3276G= (p.Arg1092=) | |
19 | g.35732861G>T | CA307796623 | KMT2B | n.618G>T c.6246G>T (p.Arg2082=) c.3853G>T (n.3853G>T) c.1530G>T (p.Arg510=) n.1465G>T c.1533G>T (p.Arg511=) c.5854G>T c.6312G>T (p.Arg2104=) c.704+532G>T (n.704+532G>T) c.3634G>T c.6036G>T (p.Arg2012=) c.5748G>T (p.Arg1916=) c.3276G>T (p.Arg1092=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732862C>A | CA405427704 | KMT2B | n.619C>A c.6247C>A (p.Pro2083Thr) c.3854C>A (n.3854C>A) c.1531C>A (p.Pro511Thr) n.1466C>A c.1534C>A (p.Pro512Thr) c.5855C>A c.6313C>A (p.Pro2105Thr) c.704+533C>A (n.704+533C>A) c.3635C>A c.6037C>A (p.Pro2013Thr) c.5749C>A (p.Pro1917Thr) c.3277C>A (p.Pro1093Thr) | |
19 | g.35732862C>G | CA405427708 | KMT2B | n.619C>G c.6247C>G (p.Pro2083Ala) c.3854C>G (n.3854C>G) c.1531C>G (p.Pro511Ala) n.1466C>G c.1534C>G (p.Pro512Ala) c.5855C>G c.6313C>G (p.Pro2105Ala) c.704+533C>G (n.704+533C>G) c.3635C>G c.6037C>G (p.Pro2013Ala) c.5749C>G (p.Pro1917Ala) c.3277C>G (p.Pro1093Ala) | |
19 | g.35732862C>T | CA405427705 | KMT2B | n.619C>T c.6247C>T (p.Pro2083Ser) c.3854C>T (n.3854C>T) c.1531C>T (p.Pro511Ser) n.1466C>T c.1534C>T (p.Pro512Ser) c.5855C>T c.6313C>T (p.Pro2105Ser) c.704+533C>T (n.704+533C>T) c.3635C>T c.6037C>T (p.Pro2013Ser) c.5749C>T (p.Pro1917Ser) c.3277C>T (p.Pro1093Ser) | gnomAD v4 |
19 | g.35732865_35732867del | CA2584575162 | KMT2B | n.622_624del c.6250_6252del (p.Pro2084del) c.3857_3859del (n.3857_3859del) c.1534_1536del (p.Pro512del) n.1469_1471del c.1537_1539del (p.Pro513del) c.5858_5860del c.6316_6318del (p.Pro2106del) c.704+536_704+538del (n.704+536_704+538del) c.3638_3640del c.6040_6042del (p.Pro2014del) c.5752_5754del (p.Pro1918del) c.3280_3282del (p.Pro1094del) | gnomAD v4 |
19 | g.35732863C>A | CA405427712 | KMT2B | n.620C>A c.6248C>A (p.Pro2083His) c.3855C>A (n.3855C>A) c.1532C>A (p.Pro511His) n.1467C>A c.1535C>A (p.Pro512His) c.5856C>A c.6314C>A (p.Pro2105His) c.704+534C>A (n.704+534C>A) c.3636C>A c.6038C>A (p.Pro2013His) c.5750C>A (p.Pro1917His) c.3278C>A (p.Pro1093His) | gnomAD v4 |
19 | g.35732863C>G | CA405427714 | KMT2B | n.620C>G c.6248C>G (p.Pro2083Arg) c.3855C>G (n.3855C>G) c.1532C>G (p.Pro511Arg) n.1467C>G c.1535C>G (p.Pro512Arg) c.5856C>G c.6314C>G (p.Pro2105Arg) c.704+534C>G (n.704+534C>G) c.3636C>G c.6038C>G (p.Pro2013Arg) c.5750C>G (p.Pro1917Arg) c.3278C>G (p.Pro1093Arg) | |
19 | g.35732863C>T | CA405427717 | KMT2B | n.620C>T c.6248C>T (p.Pro2083Leu) c.3855C>T (n.3855C>T) c.1532C>T (p.Pro511Leu) n.1467C>T c.1535C>T (p.Pro512Leu) c.5856C>T c.6314C>T (p.Pro2105Leu) c.704+534C>T (n.704+534C>T) c.3636C>T c.6038C>T (p.Pro2013Leu) c.5750C>T (p.Pro1917Leu) c.3278C>T (p.Pro1093Leu) | |
19 | g.35732864T>A | CA507308487 | KMT2B | n.621T>A c.6249T>A (p.Pro2083=) c.3856T>A (n.3856T>A) c.1533T>A (p.Pro511=) n.1468T>A c.1536T>A (p.Pro512=) c.5857T>A c.6315T>A (p.Pro2105=) c.704+535T>A (n.704+535T>A) c.3637T>A c.6039T>A (p.Pro2013=) c.5751T>A (p.Pro1917=) c.3279T>A (p.Pro1093=) | |
19 | g.35732864T>C | CA507308492 | KMT2B | n.621T>C c.6249T>C (p.Pro2083=) c.3856T>C (n.3856T>C) c.1533T>C (p.Pro511=) n.1468T>C c.1536T>C (p.Pro512=) c.5857T>C c.6315T>C (p.Pro2105=) c.704+535T>C (n.704+535T>C) c.3637T>C c.6039T>C (p.Pro2013=) c.5751T>C (p.Pro1917=) c.3279T>C (p.Pro1093=) | |
19 | g.35732864T>G | CA507308493 | KMT2B | n.621T>G c.6249T>G (p.Pro2083=) c.3856T>G (n.3856T>G) c.1533T>G (p.Pro511=) n.1468T>G c.1536T>G (p.Pro512=) c.5857T>G c.6315T>G (p.Pro2105=) c.704+535T>G (n.704+535T>G) c.3637T>G c.6039T>G (p.Pro2013=) c.5751T>G (p.Pro1917=) c.3279T>G (p.Pro1093=) | |
19 | g.35732865C>A | CA405427719 | KMT2B | n.622C>A c.6250C>A (p.Pro2084Thr) c.3857C>A (n.3857C>A) c.1534C>A (p.Pro512Thr) n.1469C>A c.1537C>A (p.Pro513Thr) c.5858C>A c.6316C>A (p.Pro2106Thr) c.704+536C>A (n.704+536C>A) c.3638C>A c.6040C>A (p.Pro2014Thr) c.5752C>A (p.Pro1918Thr) c.3280C>A (p.Pro1094Thr) | |
19 | g.35732865C= | CA2333794539 | KMT2B | n.622C= c.6250C= (p.Pro2084=) c.3857C= (n.3857C=) c.1534C= (p.Pro512=) n.1469C= c.1537C= (p.Pro513=) c.5858C= c.6316C= (p.Pro2106=) c.704+536C= (n.704+536C=) c.3638C= c.6040C= (p.Pro2014=) c.5752C= (p.Pro1918=) c.3280C= (p.Pro1094=) | |
19 | g.35732865C>G | CA405427721 | KMT2B | n.622C>G c.6250C>G (p.Pro2084Ala) c.3857C>G (n.3857C>G) c.1534C>G (p.Pro512Ala) n.1469C>G c.1537C>G (p.Pro513Ala) c.5858C>G c.6316C>G (p.Pro2106Ala) c.704+536C>G (n.704+536C>G) c.3638C>G c.6040C>G (p.Pro2014Ala) c.5752C>G (p.Pro1918Ala) c.3280C>G (p.Pro1094Ala) | |
19 | g.35732865C>T | CA9385664 | KMT2B | n.622C>T c.6250C>T (p.Pro2084Ser) c.3857C>T (n.3857C>T) c.1534C>T (p.Pro512Ser) n.1469C>T c.1537C>T (p.Pro513Ser) c.5858C>T c.6316C>T (p.Pro2106Ser) c.704+536C>T (n.704+536C>T) c.3638C>T c.6040C>T (p.Pro2014Ser) c.5752C>T (p.Pro1918Ser) c.3280C>T (p.Pro1094Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732866C>A | CA405427728 | KMT2B | n.623C>A c.6251C>A (p.Pro2084His) c.3858C>A (n.3858C>A) c.1535C>A (p.Pro512His) n.1470C>A c.1538C>A (p.Pro513His) c.5859C>A c.6317C>A (p.Pro2106His) c.704+537C>A (n.704+537C>A) c.3639C>A c.6041C>A (p.Pro2014His) c.5753C>A (p.Pro1918His) c.3281C>A (p.Pro1094His) | gnomAD v4 |
19 | g.35732866C= | CA2333794540 | KMT2B | n.623C= c.6251C= (p.Pro2084=) c.3858C= (n.3858C=) c.1535C= (p.Pro512=) n.1470C= c.1538C= (p.Pro513=) c.5859C= c.6317C= (p.Pro2106=) c.704+537C= (n.704+537C=) c.3639C= c.6041C= (p.Pro2014=) c.5753C= (p.Pro1918=) c.3281C= (p.Pro1094=) | |
19 | g.35732866C>G | CA405427731 | KMT2B | n.623C>G c.6251C>G (p.Pro2084Arg) c.3858C>G (n.3858C>G) c.1535C>G (p.Pro512Arg) n.1470C>G c.1538C>G (p.Pro513Arg) c.5859C>G c.6317C>G (p.Pro2106Arg) c.704+537C>G (n.704+537C>G) c.3639C>G c.6041C>G (p.Pro2014Arg) c.5753C>G (p.Pro1918Arg) c.3281C>G (p.Pro1094Arg) | |
19 | g.35732866C>T | CA405427734 | KMT2B | n.623C>T c.6251C>T (p.Pro2084Leu) c.3858C>T (n.3858C>T) c.1535C>T (p.Pro512Leu) n.1470C>T c.1538C>T (p.Pro513Leu) c.5859C>T c.6317C>T (p.Pro2106Leu) c.704+537C>T (n.704+537C>T) c.3639C>T c.6041C>T (p.Pro2014Leu) c.5753C>T (p.Pro1918Leu) c.3281C>T (p.Pro1094Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732867T>A | CA507308505 | KMT2B | n.624T>A c.6252T>A (p.Pro2084=) c.3859T>A (n.3859T>A) c.1536T>A (p.Pro512=) n.1471T>A c.1539T>A (p.Pro513=) c.5860T>A c.6318T>A (p.Pro2106=) c.704+538T>A (n.704+538T>A) c.3640T>A c.6042T>A (p.Pro2014=) c.5754T>A (p.Pro1918=) c.3282T>A (p.Pro1094=) | |
19 | g.35732867T>C | CA507308506 | KMT2B | n.624T>C c.6252T>C (p.Pro2084=) c.3859T>C (n.3859T>C) c.1536T>C (p.Pro512=) n.1471T>C c.1539T>C (p.Pro513=) c.5860T>C c.6318T>C (p.Pro2106=) c.704+538T>C (n.704+538T>C) c.3640T>C c.6042T>C (p.Pro2014=) c.5754T>C (p.Pro1918=) c.3282T>C (p.Pro1094=) | |
19 | g.35732867T>G | CA507308507 | KMT2B | n.624T>G c.6252T>G (p.Pro2084=) c.3859T>G (n.3859T>G) c.1536T>G (p.Pro512=) n.1471T>G c.1539T>G (p.Pro513=) c.5860T>G c.6318T>G (p.Pro2106=) c.704+538T>G (n.704+538T>G) c.3640T>G c.6042T>G (p.Pro2014=) c.5754T>G (p.Pro1918=) c.3282T>G (p.Pro1094=) | |
19 | g.35732867_35732876del | CA2695228600 | KMT2B | n.624_633del c.6252_6261del (p.Glu2085HisfsTer9) c.3859_3868del (n.3859_3868del) c.1536_1545del (p.Glu513HisfsTer9) n.1471_1480del c.1539_1548del (p.Glu514HisfsTer9) c.5860_5869del c.6318_6327del (p.Glu2107HisfsTer9) c.704+538_704+547del (n.704+538_704+547del) c.3640_3649del c.6042_6051del (p.Glu2015HisfsTer9) c.5754_5763del (p.Glu1919HisfsTer9) c.3282_3291del (p.Glu1095HisfsTer9) | |
19 | g.35732868G>A | CA405427742 | KMT2B | n.625G>A c.6253G>A (p.Glu2085Lys) c.3860G>A (n.3860G>A) c.1537G>A (p.Glu513Lys) n.1472G>A c.1540G>A (p.Glu514Lys) c.5861G>A c.6319G>A (p.Glu2107Lys) c.704+539G>A (n.704+539G>A) c.3641G>A c.6043G>A (p.Glu2015Lys) c.5755G>A (p.Glu1919Lys) c.3283G>A (p.Glu1095Lys) | |
19 | g.35732868G>C | CA405427740 | KMT2B | n.625G>C c.6253G>C (p.Glu2085Gln) c.3860G>C (n.3860G>C) c.1537G>C (p.Glu513Gln) n.1472G>C c.1540G>C (p.Glu514Gln) c.5861G>C c.6319G>C (p.Glu2107Gln) c.704+539G>C (n.704+539G>C) c.3641G>C c.6043G>C (p.Glu2015Gln) c.5755G>C (p.Glu1919Gln) c.3283G>C (p.Glu1095Gln) | |
19 | g.35732868G>T | CA405427739 | KMT2B | n.625G>T c.6253G>T (p.Glu2085Ter) c.3860G>T (n.3860G>T) c.1537G>T (p.Glu513Ter) n.1472G>T c.1540G>T (p.Glu514Ter) c.5861G>T c.6319G>T (p.Glu2107Ter) c.704+539G>T (n.704+539G>T) c.3641G>T c.6043G>T (p.Glu2015Ter) c.5755G>T (p.Glu1919Ter) c.3283G>T (p.Glu1095Ter) | |
19 | g.35732869A>C | CA405427746 | KMT2B | n.626A>C c.6254A>C (p.Glu2085Ala) c.3861A>C (n.3861A>C) c.1538A>C (p.Glu513Ala) n.1473A>C c.1541A>C (p.Glu514Ala) c.5862A>C c.6320A>C (p.Glu2107Ala) c.704+540A>C (n.704+540A>C) c.3642A>C c.6044A>C (p.Glu2015Ala) c.5756A>C (p.Glu1919Ala) c.3284A>C (p.Glu1095Ala) | |
19 | g.35732869A>G | CA405427748 | KMT2B | n.626A>G c.6254A>G (p.Glu2085Gly) c.3861A>G (n.3861A>G) c.1538A>G (p.Glu513Gly) n.1473A>G c.1541A>G (p.Glu514Gly) c.5862A>G c.6320A>G (p.Glu2107Gly) c.704+540A>G (n.704+540A>G) c.3642A>G c.6044A>G (p.Glu2015Gly) c.5756A>G (p.Glu1919Gly) c.3284A>G (p.Glu1095Gly) | |
19 | g.35732869A>T | CA405427752 | KMT2B | n.626A>T c.6254A>T (p.Glu2085Val) c.3861A>T (n.3861A>T) c.1538A>T (p.Glu513Val) n.1473A>T c.1541A>T (p.Glu514Val) c.5862A>T c.6320A>T (p.Glu2107Val) c.704+540A>T (n.704+540A>T) c.3642A>T c.6044A>T (p.Glu2015Val) c.5756A>T (p.Glu1919Val) c.3284A>T (p.Glu1095Val) | |
19 | g.35732870G>A | CA9385665 | KMT2B | n.627G>A c.6255G>A (p.Glu2085=) c.3862G>A (n.3862G>A) c.1539G>A (p.Glu513=) n.1474G>A c.1542G>A (p.Glu514=) c.5863G>A c.6321G>A (p.Glu2107=) c.704+541G>A (n.704+541G>A) c.3643G>A c.6045G>A (p.Glu2015=) c.5757G>A (p.Glu1919=) c.3285G>A (p.Glu1095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732870G>C | CA405427757 | KMT2B | n.627G>C c.6255G>C (p.Glu2085Asp) c.3862G>C (n.3862G>C) c.1539G>C (p.Glu513Asp) n.1474G>C c.1542G>C (p.Glu514Asp) c.5863G>C c.6321G>C (p.Glu2107Asp) c.704+541G>C (n.704+541G>C) c.3643G>C c.6045G>C (p.Glu2015Asp) c.5757G>C (p.Glu1919Asp) c.3285G>C (p.Glu1095Asp) | |
19 | g.35732870G= | CA2333794541 | KMT2B | n.627G= c.6255G= (p.Glu2085=) c.3862G= (n.3862G=) c.1539G= (p.Glu513=) n.1474G= c.1542G= (p.Glu514=) c.5863G= c.6321G= (p.Glu2107=) c.704+541G= (n.704+541G=) c.3643G= c.6045G= (p.Glu2015=) c.5757G= (p.Glu1919=) c.3285G= (p.Glu1095=) | |
19 | g.35732870G>T | CA405427761 | KMT2B | n.627G>T c.6255G>T (p.Glu2085Asp) c.3862G>T (n.3862G>T) c.1539G>T (p.Glu513Asp) n.1474G>T c.1542G>T (p.Glu514Asp) c.5863G>T c.6321G>T (p.Glu2107Asp) c.704+541G>T (n.704+541G>T) c.3643G>T c.6045G>T (p.Glu2015Asp) c.5757G>T (p.Glu1919Asp) c.3285G>T (p.Glu1095Asp) | gnomAD v4 |
19 | g.35732871G>A | CA405427766 | KMT2B | n.628G>A c.6256G>A (p.Asp2086Asn) c.3863G>A (n.3863G>A) c.1540G>A (p.Asp514Asn) n.1475G>A c.1543G>A (p.Asp515Asn) c.5864G>A c.6322G>A (p.Asp2108Asn) c.704+542G>A (n.704+542G>A) c.3644G>A c.6046G>A (p.Asp2016Asn) c.5758G>A (p.Asp1920Asn) c.3286G>A (p.Asp1096Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732871G>C | CA405427768 | KMT2B | n.628G>C c.6256G>C (p.Asp2086His) c.3863G>C (n.3863G>C) c.1540G>C (p.Asp514His) n.1475G>C c.1543G>C (p.Asp515His) c.5864G>C c.6322G>C (p.Asp2108His) c.704+542G>C (n.704+542G>C) c.3644G>C c.6046G>C (p.Asp2016His) c.5758G>C (p.Asp1920His) c.3286G>C (p.Asp1096His) | |
19 | g.35732871G= | CA2333794542 | KMT2B | n.628G= c.6256G= (p.Asp2086=) c.3863G= (n.3863G=) c.1540G= (p.Asp514=) n.1475G= c.1543G= (p.Asp515=) c.5864G= c.6322G= (p.Asp2108=) c.704+542G= (n.704+542G=) c.3644G= c.6046G= (p.Asp2016=) c.5758G= (p.Asp1920=) c.3286G= (p.Asp1096=) | |
19 | g.35732871G>T | CA405427771 | KMT2B | n.628G>T c.6256G>T (p.Asp2086Tyr) c.3863G>T (n.3863G>T) c.1540G>T (p.Asp514Tyr) n.1475G>T c.1543G>T (p.Asp515Tyr) c.5864G>T c.6322G>T (p.Asp2108Tyr) c.704+542G>T (n.704+542G>T) c.3644G>T c.6046G>T (p.Asp2016Tyr) c.5758G>T (p.Asp1920Tyr) c.3286G>T (p.Asp1096Tyr) | gnomAD v4 |
19 | g.35732872A>C | CA405427773 | KMT2B | n.629A>C c.6257A>C (p.Asp2086Ala) c.3864A>C (n.3864A>C) c.1541A>C (p.Asp514Ala) n.1476A>C c.1544A>C (p.Asp515Ala) c.5865A>C c.6323A>C (p.Asp2108Ala) c.704+543A>C (n.704+543A>C) c.3645A>C c.6047A>C (p.Asp2016Ala) c.5759A>C (p.Asp1920Ala) c.3287A>C (p.Asp1096Ala) | |
19 | g.35732872A>G | CA405427776 | KMT2B | n.629A>G c.6257A>G (p.Asp2086Gly) c.3864A>G (n.3864A>G) c.1541A>G (p.Asp514Gly) n.1476A>G c.1544A>G (p.Asp515Gly) c.5865A>G c.6323A>G (p.Asp2108Gly) c.704+543A>G (n.704+543A>G) c.3645A>G c.6047A>G (p.Asp2016Gly) c.5759A>G (p.Asp1920Gly) c.3287A>G (p.Asp1096Gly) | |
19 | g.35732872A>T | CA405427779 | KMT2B | n.629A>T c.6257A>T (p.Asp2086Val) c.3864A>T (n.3864A>T) c.1541A>T (p.Asp514Val) n.1476A>T c.1544A>T (p.Asp515Val) c.5865A>T c.6323A>T (p.Asp2108Val) c.704+543A>T (n.704+543A>T) c.3645A>T c.6047A>T (p.Asp2016Val) c.5759A>T (p.Asp1920Val) c.3287A>T (p.Asp1096Val) | |
19 | g.35732873C>A | CA405427787 | KMT2B | n.630C>A c.6258C>A (p.Asp2086Glu) c.3865C>A (n.3865C>A) c.1542C>A (p.Asp514Glu) n.1477C>A c.1545C>A (p.Asp515Glu) c.5866C>A c.6324C>A (p.Asp2108Glu) c.704+544C>A (n.704+544C>A) c.3646C>A c.6048C>A (p.Asp2016Glu) c.5760C>A (p.Asp1920Glu) c.3288C>A (p.Asp1096Glu) | |
19 | g.35732873C= | CA2333794543 | KMT2B | n.630C= c.6258C= (p.Asp2086=) c.3865C= (n.3865C=) c.1542C= (p.Asp514=) n.1477C= c.1545C= (p.Asp515=) c.5866C= c.6324C= (p.Asp2108=) c.704+544C= (n.704+544C=) c.3646C= c.6048C= (p.Asp2016=) c.5760C= (p.Asp1920=) c.3288C= (p.Asp1096=) | |
19 | g.35732873C>G | CA405427784 | KMT2B | n.630C>G c.6258C>G (p.Asp2086Glu) c.3865C>G (n.3865C>G) c.1542C>G (p.Asp514Glu) n.1477C>G c.1545C>G (p.Asp515Glu) c.5866C>G c.6324C>G (p.Asp2108Glu) c.704+544C>G (n.704+544C>G) c.3646C>G c.6048C>G (p.Asp2016Glu) c.5760C>G (p.Asp1920Glu) c.3288C>G (p.Asp1096Glu) | |
19 | g.35732873C>T | CA9385666 | KMT2B | n.630C>T c.6258C>T (p.Asp2086=) c.3865C>T (n.3865C>T) c.1542C>T (p.Asp514=) n.1477C>T c.1545C>T (p.Asp515=) c.5866C>T c.6324C>T (p.Asp2108=) c.704+544C>T (n.704+544C>T) c.3646C>T c.6048C>T (p.Asp2016=) c.5760C>T (p.Asp1920=) c.3288C>T (p.Asp1096=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732874C>A | CA405427790 | KMT2B | n.631C>A c.6259C>A (p.Leu2087Met) c.3866C>A (n.3866C>A) c.1543C>A (p.Leu515Met) n.1478C>A c.1546C>A (p.Leu516Met) c.5867C>A c.6325C>A (p.Leu2109Met) c.704+545C>A (n.704+545C>A) c.3647C>A c.6049C>A (p.Leu2017Met) c.5761C>A (p.Leu1921Met) c.3289C>A (p.Leu1097Met) | |
19 | g.35732874C= | CA2333794544 | KMT2B | n.631C= c.6259C= (p.Leu2087=) c.3866C= (n.3866C=) c.1543C= (p.Leu515=) n.1478C= c.1546C= (p.Leu516=) c.5867C= c.6325C= (p.Leu2109=) c.704+545C= (n.704+545C=) c.3647C= c.6049C= (p.Leu2017=) c.5761C= (p.Leu1921=) c.3289C= (p.Leu1097=) | |
19 | g.35732874C>G | CA405427793 | KMT2B | n.631C>G c.6259C>G (p.Leu2087Val) c.3866C>G (n.3866C>G) c.1543C>G (p.Leu515Val) n.1478C>G c.1546C>G (p.Leu516Val) c.5867C>G c.6325C>G (p.Leu2109Val) c.704+545C>G (n.704+545C>G) c.3647C>G c.6049C>G (p.Leu2017Val) c.5761C>G (p.Leu1921Val) c.3289C>G (p.Leu1097Val) | dbSNP gnomAD v4 |
19 | g.35732874C>T | CA507308525 | KMT2B | n.631C>T c.6259C>T (p.Leu2087=) c.3866C>T (n.3866C>T) c.1543C>T (p.Leu515=) n.1478C>T c.1546C>T (p.Leu516=) c.5867C>T c.6325C>T (p.Leu2109=) c.704+545C>T (n.704+545C>T) c.3647C>T c.6049C>T (p.Leu2017=) c.5761C>T (p.Leu1921=) c.3289C>T (p.Leu1097=) | |
19 | g.35732875T>A | CA405427796 | KMT2B | n.632T>A c.6260T>A (p.Leu2087Gln) c.3867T>A (n.3867T>A) c.1544T>A (p.Leu515Gln) n.1479T>A c.1547T>A (p.Leu516Gln) c.5868T>A c.6326T>A (p.Leu2109Gln) c.704+546T>A (n.704+546T>A) c.3648T>A c.6050T>A (p.Leu2017Gln) c.5762T>A (p.Leu1921Gln) c.3290T>A (p.Leu1097Gln) | |
19 | g.35732875T>C | CA405427799 | KMT2B | n.632T>C c.6260T>C (p.Leu2087Pro) c.3867T>C (n.3867T>C) c.1544T>C (p.Leu515Pro) n.1479T>C c.1547T>C (p.Leu516Pro) c.5868T>C c.6326T>C (p.Leu2109Pro) c.704+546T>C (n.704+546T>C) c.3648T>C c.6050T>C (p.Leu2017Pro) c.5762T>C (p.Leu1921Pro) c.3290T>C (p.Leu1097Pro) | |
19 | g.35732875T>G | CA405427802 | KMT2B | n.632T>G c.6260T>G (p.Leu2087Arg) c.3867T>G (n.3867T>G) c.1544T>G (p.Leu515Arg) n.1479T>G c.1547T>G (p.Leu516Arg) c.5868T>G c.6326T>G (p.Leu2109Arg) c.704+546T>G (n.704+546T>G) c.3648T>G c.6050T>G (p.Leu2017Arg) c.5762T>G (p.Leu1921Arg) c.3290T>G (p.Leu1097Arg) | |
19 | g.35732876G>A | CA507308537 | KMT2B | n.633G>A c.6261G>A (p.Leu2087=) c.3868G>A (n.3868G>A) c.1545G>A (p.Leu515=) n.1480G>A c.1548G>A (p.Leu516=) c.5869G>A c.6327G>A (p.Leu2109=) c.704+547G>A (n.704+547G>A) c.3649G>A c.6051G>A (p.Leu2017=) c.5763G>A (p.Leu1921=) c.3291G>A (p.Leu1097=) | gnomAD v4 |
19 | g.35732876G>C | CA507308539 | KMT2B | n.633G>C c.6261G>C (p.Leu2087=) c.3868G>C (n.3868G>C) c.1545G>C (p.Leu515=) n.1480G>C c.1548G>C (p.Leu516=) c.5869G>C c.6327G>C (p.Leu2109=) c.704+547G>C (n.704+547G>C) c.3649G>C c.6051G>C (p.Leu2017=) c.5763G>C (p.Leu1921=) c.3291G>C (p.Leu1097=) | |
19 | g.35732876G>T | CA507308540 | KMT2B | n.633G>T c.6261G>T (p.Leu2087=) c.3868G>T (n.3868G>T) c.1545G>T (p.Leu515=) n.1480G>T c.1548G>T (p.Leu516=) c.5869G>T c.6327G>T (p.Leu2109=) c.704+547G>T (n.704+547G>T) c.3649G>T c.6051G>T (p.Leu2017=) c.5763G>T (p.Leu1921=) c.3291G>T (p.Leu1097=) | gnomAD v4 |
19 | g.35732877C>A | CA405427806 | KMT2B | n.634C>A c.6262C>A (p.Pro2088Thr) c.3869C>A (n.3869C>A) c.1546C>A (p.Pro516Thr) n.1481C>A c.1549C>A (p.Pro517Thr) c.5870C>A c.6328C>A (p.Pro2110Thr) c.704+548C>A (n.704+548C>A) c.3650C>A c.6052C>A (p.Pro2018Thr) c.5764C>A (p.Pro1922Thr) c.3292C>A (p.Pro1098Thr) | |
19 | g.35732877C>G | CA405427808 | KMT2B | n.634C>G c.6262C>G (p.Pro2088Ala) c.3869C>G (n.3869C>G) c.1546C>G (p.Pro516Ala) n.1481C>G c.1549C>G (p.Pro517Ala) c.5870C>G c.6328C>G (p.Pro2110Ala) c.704+548C>G (n.704+548C>G) c.3650C>G c.6052C>G (p.Pro2018Ala) c.5764C>G (p.Pro1922Ala) c.3292C>G (p.Pro1098Ala) | |
19 | g.35732877C>T | CA405427810 | KMT2B | n.634C>T c.6262C>T (p.Pro2088Ser) c.3869C>T (n.3869C>T) c.1546C>T (p.Pro516Ser) n.1481C>T c.1549C>T (p.Pro517Ser) c.5870C>T c.6328C>T (p.Pro2110Ser) c.704+548C>T (n.704+548C>T) c.3650C>T c.6052C>T (p.Pro2018Ser) c.5764C>T (p.Pro1922Ser) c.3292C>T (p.Pro1098Ser) | |
19 | g.35732878C>A | CA405427815 | KMT2B | n.635C>A c.6263C>A (p.Pro2088Gln) c.3870C>A (n.3870C>A) c.1547C>A (p.Pro516Gln) n.1482C>A c.1550C>A (p.Pro517Gln) c.5871C>A c.6329C>A (p.Pro2110Gln) c.704+549C>A (n.704+549C>A) c.3651C>A c.6053C>A (p.Pro2018Gln) c.5765C>A (p.Pro1922Gln) c.3293C>A (p.Pro1098Gln) | |
19 | g.35732878C= | CA2333794545 | KMT2B | n.635C= c.6263C= (p.Pro2088=) c.3870C= (n.3870C=) c.1547C= (p.Pro516=) n.1482C= c.1550C= (p.Pro517=) c.5871C= c.6329C= (p.Pro2110=) c.704+549C= (n.704+549C=) c.3651C= c.6053C= (p.Pro2018=) c.5765C= (p.Pro1922=) c.3293C= (p.Pro1098=) | |
19 | g.35732878C>G | CA405427817 | KMT2B | n.635C>G c.6263C>G (p.Pro2088Arg) c.3870C>G (n.3870C>G) c.1547C>G (p.Pro516Arg) n.1482C>G c.1550C>G (p.Pro517Arg) c.5871C>G c.6329C>G (p.Pro2110Arg) c.704+549C>G (n.704+549C>G) c.3651C>G c.6053C>G (p.Pro2018Arg) c.5765C>G (p.Pro1922Arg) c.3293C>G (p.Pro1098Arg) | |
19 | g.35732878C>T | CA405427819 | KMT2B | n.635C>T c.6263C>T (p.Pro2088Leu) c.3870C>T (n.3870C>T) c.1547C>T (p.Pro516Leu) n.1482C>T c.1550C>T (p.Pro517Leu) c.5871C>T c.6329C>T (p.Pro2110Leu) c.704+549C>T (n.704+549C>T) c.3651C>T c.6053C>T (p.Pro2018Leu) c.5765C>T (p.Pro1922Leu) c.3293C>T (p.Pro1098Leu) | ClinVar dbSNP |
19 | g.35732879A= | CA2333794546 | KMT2B | n.636A= c.6264A= (p.Pro2088=) c.3871A= (n.3871A=) c.1548A= (p.Pro516=) n.1483A= c.1551A= (p.Pro517=) c.5872A= c.6330A= (p.Pro2110=) c.704+550A= (n.704+550A=) c.3652A= c.6054A= (p.Pro2018=) c.5766A= (p.Pro1922=) c.3294A= (p.Pro1098=) | |
19 | g.35732879A>C | CA507308557 | KMT2B | n.636A>C c.6264A>C (p.Pro2088=) c.3871A>C (n.3871A>C) c.1548A>C (p.Pro516=) n.1483A>C c.1551A>C (p.Pro517=) c.5872A>C c.6330A>C (p.Pro2110=) c.704+550A>C (n.704+550A>C) c.3652A>C c.6054A>C (p.Pro2018=) c.5766A>C (p.Pro1922=) c.3294A>C (p.Pro1098=) | |
19 | g.35732879A>G | CA9385667 | KMT2B | n.636A>G c.6264A>G (p.Pro2088=) c.3871A>G (n.3871A>G) c.1548A>G (p.Pro516=) n.1483A>G c.1551A>G (p.Pro517=) c.5872A>G c.6330A>G (p.Pro2110=) c.704+550A>G (n.704+550A>G) c.3652A>G c.6054A>G (p.Pro2018=) c.5766A>G (p.Pro1922=) c.3294A>G (p.Pro1098=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732879A>T | CA507308560 | KMT2B | n.636A>T c.6264A>T (p.Pro2088=) c.3871A>T (n.3871A>T) c.1548A>T (p.Pro516=) n.1483A>T c.1551A>T (p.Pro517=) c.5872A>T c.6330A>T (p.Pro2110=) c.704+550A>T (n.704+550A>T) c.3652A>T c.6054A>T (p.Pro2018=) c.5766A>T (p.Pro1922=) c.3294A>T (p.Pro1098=) | |
19 | g.35732880T>A | CA405427830 | KMT2B | n.637T>A c.6265T>A (p.Ser2089Thr) c.3872T>A (n.3872T>A) c.1549T>A (p.Ser517Thr) n.1484T>A c.1552T>A (p.Ser518Thr) c.5873T>A c.6331T>A (p.Ser2111Thr) c.704+551T>A (n.704+551T>A) c.3653T>A c.6055T>A (p.Ser2019Thr) c.5767T>A (p.Ser1923Thr) c.3295T>A (p.Ser1099Thr) | |
19 | g.35732880T>C | CA405427828 | KMT2B | n.637T>C c.6265T>C (p.Ser2089Pro) c.3872T>C (n.3872T>C) c.1549T>C (p.Ser517Pro) n.1484T>C c.1552T>C (p.Ser518Pro) c.5873T>C c.6331T>C (p.Ser2111Pro) c.704+551T>C (n.704+551T>C) c.3653T>C c.6055T>C (p.Ser2019Pro) c.5767T>C (p.Ser1923Pro) c.3295T>C (p.Ser1099Pro) | |
19 | g.35732880T>G | CA405427825 | KMT2B | n.637T>G c.6265T>G (p.Ser2089Ala) c.3872T>G (n.3872T>G) c.1549T>G (p.Ser517Ala) n.1484T>G c.1552T>G (p.Ser518Ala) c.5873T>G c.6331T>G (p.Ser2111Ala) c.704+551T>G (n.704+551T>G) c.3653T>G c.6055T>G (p.Ser2019Ala) c.5767T>G (p.Ser1923Ala) c.3295T>G (p.Ser1099Ala) | |
19 | g.35732881C>A | CA405427834 | KMT2B | n.638C>A c.6266C>A (p.Ser2089Ter) c.3873C>A (n.3873C>A) c.1550C>A (p.Ser517Ter) n.1485C>A c.1553C>A (p.Ser518Ter) c.5874C>A c.6332C>A (p.Ser2111Ter) c.704+552C>A (n.704+552C>A) c.3654C>A c.6056C>A (p.Ser2019Ter) c.5768C>A (p.Ser1923Ter) c.3296C>A (p.Ser1099Ter) | |
19 | g.35732881C= | CA2333794547 | KMT2B | n.638C= c.6266C= (p.Ser2089=) c.3873C= (n.3873C=) c.1550C= (p.Ser517=) n.1485C= c.1553C= (p.Ser518=) c.5874C= c.6332C= (p.Ser2111=) c.704+552C= (n.704+552C=) c.3654C= c.6056C= (p.Ser2019=) c.5768C= (p.Ser1923=) c.3296C= (p.Ser1099=) | |
19 | g.35732881C>G | CA405427837 | KMT2B | n.638C>G c.6266C>G (p.Ser2089Trp) c.3873C>G (n.3873C>G) c.1550C>G (p.Ser517Trp) n.1485C>G c.1553C>G (p.Ser518Trp) c.5874C>G c.6332C>G (p.Ser2111Trp) c.704+552C>G (n.704+552C>G) c.3654C>G c.6056C>G (p.Ser2019Trp) c.5768C>G (p.Ser1923Trp) c.3296C>G (p.Ser1099Trp) | |
19 | g.35732881C>T | CA9385668 | KMT2B | n.638C>T c.6266C>T (p.Ser2089Leu) c.3873C>T (n.3873C>T) c.1550C>T (p.Ser517Leu) n.1485C>T c.1553C>T (p.Ser518Leu) c.5874C>T c.6332C>T (p.Ser2111Leu) c.704+552C>T (n.704+552C>T) c.3654C>T c.6056C>T (p.Ser2019Leu) c.5768C>T (p.Ser1923Leu) c.3296C>T (p.Ser1099Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732882G>A | CA9385669 | KMT2B | n.639G>A c.6267G>A (p.Ser2089=) c.3874G>A (n.3874G>A) c.1551G>A (p.Ser517=) n.1486G>A c.1554G>A (p.Ser518=) c.5875G>A c.6333G>A (p.Ser2111=) c.704+553G>A (n.704+553G>A) c.3655G>A c.6057G>A (p.Ser2019=) c.5769G>A (p.Ser1923=) c.3297G>A (p.Ser1099=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732882G>C | CA507308572 | KMT2B | n.639G>C c.6267G>C (p.Ser2089=) c.3874G>C (n.3874G>C) c.1551G>C (p.Ser517=) n.1486G>C c.1554G>C (p.Ser518=) c.5875G>C c.6333G>C (p.Ser2111=) c.704+553G>C (n.704+553G>C) c.3655G>C c.6057G>C (p.Ser2019=) c.5769G>C (p.Ser1923=) c.3297G>C (p.Ser1099=) | |
19 | g.35732882G= | CA2333794548 | KMT2B | n.639G= c.6267G= (p.Ser2089=) c.3874G= (n.3874G=) c.1551G= (p.Ser517=) n.1486G= c.1554G= (p.Ser518=) c.5875G= c.6333G= (p.Ser2111=) c.704+553G= (n.704+553G=) c.3655G= c.6057G= (p.Ser2019=) c.5769G= (p.Ser1923=) c.3297G= (p.Ser1099=) | |
19 | g.35732882G>T | CA507308571 | KMT2B | n.639G>T c.6267G>T (p.Ser2089=) c.3874G>T (n.3874G>T) c.1551G>T (p.Ser517=) n.1486G>T c.1554G>T (p.Ser518=) c.5875G>T c.6333G>T (p.Ser2111=) c.704+553G>T (n.704+553G>T) c.3655G>T c.6057G>T (p.Ser2019=) c.5769G>T (p.Ser1923=) c.3297G>T (p.Ser1099=) | |
19 | g.35732883G>A | CA405427845 | KMT2B | n.640G>A c.6268G>A (p.Glu2090Lys) c.3875G>A (n.3875G>A) c.1552G>A (p.Glu518Lys) n.1487G>A c.1555G>A (p.Glu519Lys) c.5876G>A c.6334G>A (p.Glu2112Lys) c.704+554G>A (n.704+554G>A) c.3656G>A c.6058G>A (p.Glu2020Lys) c.5770G>A (p.Glu1924Lys) c.3298G>A (p.Glu1100Lys) | |
19 | g.35732883G>C | CA405427846 | KMT2B | n.640G>C c.6268G>C (p.Glu2090Gln) c.3875G>C (n.3875G>C) c.1552G>C (p.Glu518Gln) n.1487G>C c.1555G>C (p.Glu519Gln) c.5876G>C c.6334G>C (p.Glu2112Gln) c.704+554G>C (n.704+554G>C) c.3656G>C c.6058G>C (p.Glu2020Gln) c.5770G>C (p.Glu1924Gln) c.3298G>C (p.Glu1100Gln) | gnomAD v4 |
19 | g.35732883G>T | CA405427848 | KMT2B | n.640G>T c.6268G>T (p.Glu2090Ter) c.3875G>T (n.3875G>T) c.1552G>T (p.Glu518Ter) n.1487G>T c.1555G>T (p.Glu519Ter) c.5876G>T c.6334G>T (p.Glu2112Ter) c.704+554G>T (n.704+554G>T) c.3656G>T c.6058G>T (p.Glu2020Ter) c.5770G>T (p.Glu1924Ter) c.3298G>T (p.Glu1100Ter) | gnomAD v4 |
19 | g.35732884A= | CA2333794549 | KMT2B | n.641A= c.6269A= (p.Glu2090=) c.3876A= (n.3876A=) c.1553A= (p.Glu518=) n.1488A= c.1556A= (p.Glu519=) c.5877A= c.6335A= (p.Glu2112=) c.704+555A= (n.704+555A=) c.3657A= c.6059A= (p.Glu2020=) c.5771A= (p.Glu1924=) c.3299A= (p.Glu1100=) | |
19 | g.35732884A>C | CA307796657 | KMT2B | n.641A>C c.6269A>C (p.Glu2090Ala) c.3876A>C (n.3876A>C) c.1553A>C (p.Glu518Ala) n.1488A>C c.1556A>C (p.Glu519Ala) c.5877A>C c.6335A>C (p.Glu2112Ala) c.704+555A>C (n.704+555A>C) c.3657A>C c.6059A>C (p.Glu2020Ala) c.5771A>C (p.Glu1924Ala) c.3299A>C (p.Glu1100Ala) | dbSNP |
19 | g.35732884A>G | CA405427854 | KMT2B | n.641A>G c.6269A>G (p.Glu2090Gly) c.3876A>G (n.3876A>G) c.1553A>G (p.Glu518Gly) n.1488A>G c.1556A>G (p.Glu519Gly) c.5877A>G c.6335A>G (p.Glu2112Gly) c.704+555A>G (n.704+555A>G) c.3657A>G c.6059A>G (p.Glu2020Gly) c.5771A>G (p.Glu1924Gly) c.3299A>G (p.Glu1100Gly) | gnomAD v4 |
19 | g.35732884A>T | CA405427857 | KMT2B | n.641A>T c.6269A>T (p.Glu2090Val) c.3876A>T (n.3876A>T) c.1553A>T (p.Glu518Val) n.1488A>T c.1556A>T (p.Glu519Val) c.5877A>T c.6335A>T (p.Glu2112Val) c.704+555A>T (n.704+555A>T) c.3657A>T c.6059A>T (p.Glu2020Val) c.5771A>T (p.Glu1924Val) c.3299A>T (p.Glu1100Val) | |
19 | g.35732885A>C | CA405427861 | KMT2B | n.642A>C c.6270A>C (p.Glu2090Asp) c.3877A>C (n.3877A>C) c.1554A>C (p.Glu518Asp) n.1489A>C c.1557A>C (p.Glu519Asp) c.5878A>C c.6336A>C (p.Glu2112Asp) c.704+556A>C (n.704+556A>C) c.3658A>C c.6060A>C (p.Glu2020Asp) c.5772A>C (p.Glu1924Asp) c.3300A>C (p.Glu1100Asp) | |
19 | g.35732885A>G | CA507308586 | KMT2B | n.642A>G c.6270A>G (p.Glu2090=) c.3877A>G (n.3877A>G) c.1554A>G (p.Glu518=) n.1489A>G c.1557A>G (p.Glu519=) c.5878A>G c.6336A>G (p.Glu2112=) c.704+556A>G (n.704+556A>G) c.3658A>G c.6060A>G (p.Glu2020=) c.5772A>G (p.Glu1924=) c.3300A>G (p.Glu1100=) | gnomAD v4 |
19 | g.35732885A>T | CA405427865 | KMT2B | n.642A>T c.6270A>T (p.Glu2090Asp) c.3877A>T (n.3877A>T) c.1554A>T (p.Glu518Asp) n.1489A>T c.1557A>T (p.Glu519Asp) c.5878A>T c.6336A>T (p.Glu2112Asp) c.704+556A>T (n.704+556A>T) c.3658A>T c.6060A>T (p.Glu2020Asp) c.5772A>T (p.Glu1924Asp) c.3300A>T (p.Glu1100Asp) | gnomAD v4 |
19 | g.35732886A>C | CA405427868 | KMT2B | n.643A>C c.6271A>C (p.Ile2091Leu) c.3878A>C (n.3878A>C) c.1555A>C (p.Ile519Leu) n.1490A>C c.1558A>C (p.Ile520Leu) c.5879A>C c.6337A>C (p.Ile2113Leu) c.704+557A>C (n.704+557A>C) c.3659A>C c.6061A>C (p.Ile2021Leu) c.5773A>C (p.Ile1925Leu) c.3301A>C (p.Ile1101Leu) | |
19 | g.35732886A>G | CA405427871 | KMT2B | n.643A>G c.6271A>G (p.Ile2091Val) c.3878A>G (n.3878A>G) c.1555A>G (p.Ile519Val) n.1490A>G c.1558A>G (p.Ile520Val) c.5879A>G c.6337A>G (p.Ile2113Val) c.704+557A>G (n.704+557A>G) c.3659A>G c.6061A>G (p.Ile2021Val) c.5773A>G (p.Ile1925Val) c.3301A>G (p.Ile1101Val) | |
19 | g.35732886A>T | CA405427873 | KMT2B | n.643A>T c.6271A>T (p.Ile2091Phe) c.3878A>T (n.3878A>T) c.1555A>T (p.Ile519Phe) n.1490A>T c.1558A>T (p.Ile520Phe) c.5879A>T c.6337A>T (p.Ile2113Phe) c.704+557A>T (n.704+557A>T) c.3659A>T c.6061A>T (p.Ile2021Phe) c.5773A>T (p.Ile1925Phe) c.3301A>T (p.Ile1101Phe) | |
19 | g.35732887T>A | CA405427876 | KMT2B | n.644T>A c.6272T>A (p.Ile2091Asn) c.3879T>A (n.3879T>A) c.1556T>A (p.Ile519Asn) n.1491T>A c.1559T>A (p.Ile520Asn) c.5880T>A c.6338T>A (p.Ile2113Asn) c.704+558T>A (n.704+558T>A) c.3660T>A c.6062T>A (p.Ile2021Asn) c.5774T>A (p.Ile1925Asn) c.3302T>A (p.Ile1101Asn) | |
19 | g.35732887T>C | CA405427879 | KMT2B | n.644T>C c.6272T>C (p.Ile2091Thr) c.3879T>C (n.3879T>C) c.1556T>C (p.Ile519Thr) n.1491T>C c.1559T>C (p.Ile520Thr) c.5880T>C c.6338T>C (p.Ile2113Thr) c.704+558T>C (n.704+558T>C) c.3660T>C c.6062T>C (p.Ile2021Thr) c.5774T>C (p.Ile1925Thr) c.3302T>C (p.Ile1101Thr) | |
19 | g.35732887T>G | CA405427878 | KMT2B | n.644T>G c.6272T>G (p.Ile2091Ser) c.3879T>G (n.3879T>G) c.1556T>G (p.Ile519Ser) n.1491T>G c.1559T>G (p.Ile520Ser) c.5880T>G c.6338T>G (p.Ile2113Ser) c.704+558T>G (n.704+558T>G) c.3660T>G c.6062T>G (p.Ile2021Ser) c.5774T>G (p.Ile1925Ser) c.3302T>G (p.Ile1101Ser) | |
19 | g.35732888T>A | CA507308598 | KMT2B | n.645T>A c.6273T>A (p.Ile2091=) c.3880T>A (n.3880T>A) c.1557T>A (p.Ile519=) n.1492T>A c.1560T>A (p.Ile520=) c.5881T>A c.6339T>A (p.Ile2113=) c.704+559T>A (n.704+559T>A) c.3661T>A c.6063T>A (p.Ile2021=) c.5775T>A (p.Ile1925=) c.3303T>A (p.Ile1101=) | gnomAD v4 |
19 | g.35732888T>C | CA9385670 | KMT2B | n.645T>C c.6273T>C (p.Ile2091=) c.3880T>C (n.3880T>C) c.1557T>C (p.Ile519=) n.1492T>C c.1560T>C (p.Ile520=) c.5881T>C c.6339T>C (p.Ile2113=) c.704+559T>C (n.704+559T>C) c.3661T>C c.6063T>C (p.Ile2021=) c.5775T>C (p.Ile1925=) c.3303T>C (p.Ile1101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732888T>G | CA405427884 | KMT2B | n.645T>G c.6273T>G (p.Ile2091Met) c.3880T>G (n.3880T>G) c.1557T>G (p.Ile519Met) n.1492T>G c.1560T>G (p.Ile520Met) c.5881T>G c.6339T>G (p.Ile2113Met) c.704+559T>G (n.704+559T>G) c.3661T>G c.6063T>G (p.Ile2021Met) c.5775T>G (p.Ile1925Met) c.3303T>G (p.Ile1101Met) | dbSNP |
19 | g.35732888T= | CA2333794550 | KMT2B | n.645T= c.6273T= (p.Ile2091=) c.3880T= (n.3880T=) c.1557T= (p.Ile519=) n.1492T= c.1560T= (p.Ile520=) c.5881T= c.6339T= (p.Ile2113=) c.704+559T= (n.704+559T=) c.3661T= c.6063T= (p.Ile2021=) c.5775T= (p.Ile1925=) c.3303T= (p.Ile1101=) | |
19 | g.35732889G>A | CA405427888 | KMT2B | n.646G>A c.6274G>A (p.Val2092Met) c.3881G>A (n.3881G>A) c.1558G>A (p.Val520Met) n.1493G>A c.1561G>A (p.Val521Met) c.5882G>A c.6340G>A (p.Val2114Met) c.704+560G>A (n.704+560G>A) c.3662G>A c.6064G>A (p.Val2022Met) c.5776G>A (p.Val1926Met) c.3304G>A (p.Val1102Met) | dbSNP gnomAD v2 |
19 | g.35732889G>C | CA405427890 | KMT2B | n.646G>C c.6274G>C (p.Val2092Leu) c.3881G>C (n.3881G>C) c.1558G>C (p.Val520Leu) n.1493G>C c.1561G>C (p.Val521Leu) c.5882G>C c.6340G>C (p.Val2114Leu) c.704+560G>C (n.704+560G>C) c.3662G>C c.6064G>C (p.Val2022Leu) c.5776G>C (p.Val1926Leu) c.3304G>C (p.Val1102Leu) | |
19 | g.35732889G= | CA2333794551 | KMT2B | n.646G= c.6274G= (p.Val2092=) c.3881G= (n.3881G=) c.1558G= (p.Val520=) n.1493G= c.1561G= (p.Val521=) c.5882G= c.6340G= (p.Val2114=) c.704+560G= (n.704+560G=) c.3662G= c.6064G= (p.Val2022=) c.5776G= (p.Val1926=) c.3304G= (p.Val1102=) | |
19 | g.35732889G>T | CA405427893 | KMT2B | n.646G>T c.6274G>T (p.Val2092Leu) c.3881G>T (n.3881G>T) c.1558G>T (p.Val520Leu) n.1493G>T c.1561G>T (p.Val521Leu) c.5882G>T c.6340G>T (p.Val2114Leu) c.704+560G>T (n.704+560G>T) c.3662G>T c.6064G>T (p.Val2022Leu) c.5776G>T (p.Val1926Leu) c.3304G>T (p.Val1102Leu) | gnomAD v4 |
19 | g.35732890T>A | CA405427896 | KMT2B | n.647T>A c.6275T>A (p.Val2092Glu) c.3882T>A (n.3882T>A) c.1559T>A (p.Val520Glu) n.1494T>A c.1562T>A (p.Val521Glu) c.5883T>A c.6341T>A (p.Val2114Glu) c.704+561T>A (n.704+561T>A) c.3663T>A c.6065T>A (p.Val2022Glu) c.5777T>A (p.Val1926Glu) c.3305T>A (p.Val1102Glu) | |
19 | g.35732890T>C | CA405427898 | KMT2B | n.647T>C c.6275T>C (p.Val2092Ala) c.3882T>C (n.3882T>C) c.1559T>C (p.Val520Ala) n.1494T>C c.1562T>C (p.Val521Ala) c.5883T>C c.6341T>C (p.Val2114Ala) c.704+561T>C (n.704+561T>C) c.3663T>C c.6065T>C (p.Val2022Ala) c.5777T>C (p.Val1926Ala) c.3305T>C (p.Val1102Ala) | |
19 | g.35732890T>G | CA405427901 | KMT2B | n.647T>G c.6275T>G (p.Val2092Gly) c.3882T>G (n.3882T>G) c.1559T>G (p.Val520Gly) n.1494T>G c.1562T>G (p.Val521Gly) c.5883T>G c.6341T>G (p.Val2114Gly) c.704+561T>G (n.704+561T>G) c.3663T>G c.6065T>G (p.Val2022Gly) c.5777T>G (p.Val1926Gly) c.3305T>G (p.Val1102Gly) | gnomAD v4 |
19 | g.35732891G>A | CA9385671 | KMT2B | n.648G>A c.6276G>A (p.Val2092=) c.3883G>A (n.3883G>A) c.1560G>A (p.Val520=) n.1495G>A c.1563G>A (p.Val521=) c.5884G>A c.6342G>A (p.Val2114=) c.704+562G>A (n.704+562G>A) c.3664G>A c.6066G>A (p.Val2022=) c.5778G>A (p.Val1926=) c.3306G>A (p.Val1102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732891G>C | CA507308606 | KMT2B | n.648G>C c.6276G>C (p.Val2092=) c.3883G>C (n.3883G>C) c.1560G>C (p.Val520=) n.1495G>C c.1563G>C (p.Val521=) c.5884G>C c.6342G>C (p.Val2114=) c.704+562G>C (n.704+562G>C) c.3664G>C c.6066G>C (p.Val2022=) c.5778G>C (p.Val1926=) c.3306G>C (p.Val1102=) | |
19 | g.35732891G= | CA2333794552 | KMT2B | n.648G= c.6276G= (p.Val2092=) c.3883G= (n.3883G=) c.1560G= (p.Val520=) n.1495G= c.1563G= (p.Val521=) c.5884G= c.6342G= (p.Val2114=) c.704+562G= (n.704+562G=) c.3664G= c.6066G= (p.Val2022=) c.5778G= (p.Val1926=) c.3306G= (p.Val1102=) | |
19 | g.35732891G>T | CA507308610 | KMT2B | n.648G>T c.6276G>T (p.Val2092=) c.3883G>T (n.3883G>T) c.1560G>T (p.Val520=) n.1495G>T c.1563G>T (p.Val521=) c.5884G>T c.6342G>T (p.Val2114=) c.704+562G>T (n.704+562G>T) c.3664G>T c.6066G>T (p.Val2022=) c.5778G>T (p.Val1926=) c.3306G>T (p.Val1102=) | |
19 | g.35732892G>A | CA405427907 | KMT2B | n.649G>A c.6277G>A (p.Asp2093Asn) c.3884G>A (n.3884G>A) c.1561G>A (p.Asp521Asn) n.1496G>A c.1564G>A (p.Asp522Asn) c.5885G>A c.6343G>A (p.Asp2115Asn) c.704+563G>A (n.704+563G>A) c.3665G>A c.6067G>A (p.Asp2023Asn) c.5779G>A (p.Asp1927Asn) c.3307G>A (p.Asp1103Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732892G>C | CA405427909 | KMT2B | n.649G>C c.6277G>C (p.Asp2093His) c.3884G>C (n.3884G>C) c.1561G>C (p.Asp521His) n.1496G>C c.1564G>C (p.Asp522His) c.5885G>C c.6343G>C (p.Asp2115His) c.704+563G>C (n.704+563G>C) c.3665G>C c.6067G>C (p.Asp2023His) c.5779G>C (p.Asp1927His) c.3307G>C (p.Asp1103His) | |
19 | g.35732892G= | CA2333794553 | KMT2B | n.649G= c.6277G= (p.Asp2093=) c.3884G= (n.3884G=) c.1561G= (p.Asp521=) n.1496G= c.1564G= (p.Asp522=) c.5885G= c.6343G= (p.Asp2115=) c.704+563G= (n.704+563G=) c.3665G= c.6067G= (p.Asp2023=) c.5779G= (p.Asp1927=) c.3307G= (p.Asp1103=) | |
19 | g.35732892G>T | CA405427911 | KMT2B | n.649G>T c.6277G>T (p.Asp2093Tyr) c.3884G>T (n.3884G>T) c.1561G>T (p.Asp521Tyr) n.1496G>T c.1564G>T (p.Asp522Tyr) c.5885G>T c.6343G>T (p.Asp2115Tyr) c.704+563G>T (n.704+563G>T) c.3665G>T c.6067G>T (p.Asp2023Tyr) c.5779G>T (p.Asp1927Tyr) c.3307G>T (p.Asp1103Tyr) | dbSNP gnomAD v4 |
19 | g.35732893A>C | CA405427917 | KMT2B | n.650A>C c.6278A>C (p.Asp2093Ala) c.3885A>C (n.3885A>C) c.1562A>C (p.Asp521Ala) n.1497A>C c.1565A>C (p.Asp522Ala) c.5886A>C c.6344A>C (p.Asp2115Ala) c.704+564A>C (n.704+564A>C) c.3666A>C c.6068A>C (p.Asp2023Ala) c.5780A>C (p.Asp1927Ala) c.3308A>C (p.Asp1103Ala) | |
19 | g.35732893A>G | CA405427924 | KMT2B | n.650A>G c.6278A>G (p.Asp2093Gly) c.3885A>G (n.3885A>G) c.1562A>G (p.Asp521Gly) n.1497A>G c.1565A>G (p.Asp522Gly) c.5886A>G c.6344A>G (p.Asp2115Gly) c.704+564A>G (n.704+564A>G) c.3666A>G c.6068A>G (p.Asp2023Gly) c.5780A>G (p.Asp1927Gly) c.3308A>G (p.Asp1103Gly) | gnomAD v4 |
19 | g.35732893A>T | CA405427919 | KMT2B | n.650A>T c.6278A>T (p.Asp2093Val) c.3885A>T (n.3885A>T) c.1562A>T (p.Asp521Val) n.1497A>T c.1565A>T (p.Asp522Val) c.5886A>T c.6344A>T (p.Asp2115Val) c.704+564A>T (n.704+564A>T) c.3666A>T c.6068A>T (p.Asp2023Val) c.5780A>T (p.Asp1927Val) c.3308A>T (p.Asp1103Val) | |
19 | g.35732894T>A | CA405427926 | KMT2B | n.651T>A c.6279T>A (p.Asp2093Glu) c.3886T>A (n.3886T>A) c.1563T>A (p.Asp521Glu) n.1498T>A c.1566T>A (p.Asp522Glu) c.5887T>A c.6345T>A (p.Asp2115Glu) c.704+565T>A (n.704+565T>A) c.3667T>A c.6069T>A (p.Asp2023Glu) c.5781T>A (p.Asp1927Glu) c.3309T>A (p.Asp1103Glu) | |
19 | g.35732894T>C | CA507308622 | KMT2B | n.651T>C c.6279T>C (p.Asp2093=) c.3886T>C (n.3886T>C) c.1563T>C (p.Asp521=) n.1498T>C c.1566T>C (p.Asp522=) c.5887T>C c.6345T>C (p.Asp2115=) c.704+565T>C (n.704+565T>C) c.3667T>C c.6069T>C (p.Asp2023=) c.5781T>C (p.Asp1927=) c.3309T>C (p.Asp1103=) | gnomAD v4 |
19 | g.35732894T>G | CA405427929 | KMT2B | n.651T>G c.6279T>G (p.Asp2093Glu) c.3886T>G (n.3886T>G) c.1563T>G (p.Asp521Glu) n.1498T>G c.1566T>G (p.Asp522Glu) c.5887T>G c.6345T>G (p.Asp2115Glu) c.704+565T>G (n.704+565T>G) c.3667T>G c.6069T>G (p.Asp2023Glu) c.5781T>G (p.Asp1927Glu) c.3309T>G (p.Asp1103Glu) | |
19 | g.35732895T>A | CA405427933 | KMT2B | n.652T>A c.6280T>A (p.Phe2094Ile) c.3887T>A (n.3887T>A) c.1564T>A (p.Phe522Ile) n.1499T>A c.1567T>A (p.Phe523Ile) c.5888T>A c.6346T>A (p.Phe2116Ile) c.704+566T>A (n.704+566T>A) c.3668T>A c.6070T>A (p.Phe2024Ile) c.5782T>A (p.Phe1928Ile) c.3310T>A (p.Phe1104Ile) | |
19 | g.35732895T>C | CA405427935 | KMT2B | n.652T>C c.6280T>C (p.Phe2094Leu) c.3887T>C (n.3887T>C) c.1564T>C (p.Phe522Leu) n.1499T>C c.1567T>C (p.Phe523Leu) c.5888T>C c.6346T>C (p.Phe2116Leu) c.704+566T>C (n.704+566T>C) c.3668T>C c.6070T>C (p.Phe2024Leu) c.5782T>C (p.Phe1928Leu) c.3310T>C (p.Phe1104Leu) | |
19 | g.35732895T>G | CA405427939 | KMT2B | n.652T>G c.6280T>G (p.Phe2094Val) c.3887T>G (n.3887T>G) c.1564T>G (p.Phe522Val) n.1499T>G c.1567T>G (p.Phe523Val) c.5888T>G c.6346T>G (p.Phe2116Val) c.704+566T>G (n.704+566T>G) c.3668T>G c.6070T>G (p.Phe2024Val) c.5782T>G (p.Phe1928Val) c.3310T>G (p.Phe1104Val) | |
19 | g.35732896T>A | CA405427942 | KMT2B | n.653T>A c.6281T>A (p.Phe2094Tyr) c.3888T>A (n.3888T>A) c.1565T>A (p.Phe522Tyr) n.1500T>A c.1568T>A (p.Phe523Tyr) c.5889T>A c.6347T>A (p.Phe2116Tyr) c.704+567T>A (n.704+567T>A) c.3669T>A c.6071T>A (p.Phe2024Tyr) c.5783T>A (p.Phe1928Tyr) c.3311T>A (p.Phe1104Tyr) | |
19 | g.35732896T>C | CA405427944 | KMT2B | n.653T>C c.6281T>C (p.Phe2094Ser) c.3888T>C (n.3888T>C) c.1565T>C (p.Phe522Ser) n.1500T>C c.1568T>C (p.Phe523Ser) c.5889T>C c.6347T>C (p.Phe2116Ser) c.704+567T>C (n.704+567T>C) c.3669T>C c.6071T>C (p.Phe2024Ser) c.5783T>C (p.Phe1928Ser) c.3311T>C (p.Phe1104Ser) | |
19 | g.35732896T>G | CA405427947 | KMT2B | n.653T>G c.6281T>G (p.Phe2094Cys) c.3888T>G (n.3888T>G) c.1565T>G (p.Phe522Cys) n.1500T>G c.1568T>G (p.Phe523Cys) c.5889T>G c.6347T>G (p.Phe2116Cys) c.704+567T>G (n.704+567T>G) c.3669T>G c.6071T>G (p.Phe2024Cys) c.5783T>G (p.Phe1928Cys) c.3311T>G (p.Phe1104Cys) | |
19 | g.35732897T>A | CA405427951 | KMT2B | n.654T>A c.6282T>A (p.Phe2094Leu) c.3889T>A (n.3889T>A) c.1566T>A (p.Phe522Leu) n.1501T>A c.1569T>A (p.Phe523Leu) c.5890T>A c.6348T>A (p.Phe2116Leu) c.704+568T>A (n.704+568T>A) c.3670T>A c.6072T>A (p.Phe2024Leu) c.5784T>A (p.Phe1928Leu) c.3312T>A (p.Phe1104Leu) | |
19 | g.35732897T>C | CA507308633 | KMT2B | n.654T>C c.6282T>C (p.Phe2094=) c.3889T>C (n.3889T>C) c.1566T>C (p.Phe522=) n.1501T>C c.1569T>C (p.Phe523=) c.5890T>C c.6348T>C (p.Phe2116=) c.704+568T>C (n.704+568T>C) c.3670T>C c.6072T>C (p.Phe2024=) c.5784T>C (p.Phe1928=) c.3312T>C (p.Phe1104=) | |
19 | g.35732897T>G | CA405427953 | KMT2B | n.654T>G c.6282T>G (p.Phe2094Leu) c.3889T>G (n.3889T>G) c.1566T>G (p.Phe522Leu) n.1501T>G c.1569T>G (p.Phe523Leu) c.5890T>G c.6348T>G (p.Phe2116Leu) c.704+568T>G (n.704+568T>G) c.3670T>G c.6072T>G (p.Phe2024Leu) c.5784T>G (p.Phe1928Leu) c.3312T>G (p.Phe1104Leu) | |
19 | g.35732898G>A | CA405427957 | KMT2B | n.655G>A c.6283G>A (p.Val2095Met) c.3890G>A (n.3890G>A) c.1567G>A (p.Val523Met) n.1502G>A c.1570G>A (p.Val524Met) c.5891G>A c.6349G>A (p.Val2117Met) c.704+569G>A (n.704+569G>A) c.3671G>A c.6073G>A (p.Val2025Met) c.5785G>A (p.Val1929Met) c.3313G>A (p.Val1105Met) | |
19 | g.35732898G>C | CA405427961 | KMT2B | n.655G>C c.6283G>C (p.Val2095Leu) c.3890G>C (n.3890G>C) c.1567G>C (p.Val523Leu) n.1502G>C c.1570G>C (p.Val524Leu) c.5891G>C c.6349G>C (p.Val2117Leu) c.704+569G>C (n.704+569G>C) c.3671G>C c.6073G>C (p.Val2025Leu) c.5785G>C (p.Val1929Leu) c.3313G>C (p.Val1105Leu) | |
19 | g.35732898G>T | CA405427963 | KMT2B | n.655G>T c.6283G>T (p.Val2095Leu) c.3890G>T (n.3890G>T) c.1567G>T (p.Val523Leu) n.1502G>T c.1570G>T (p.Val524Leu) c.5891G>T c.6349G>T (p.Val2117Leu) c.704+569G>T (n.704+569G>T) c.3671G>T c.6073G>T (p.Val2025Leu) c.5785G>T (p.Val1929Leu) c.3313G>T (p.Val1105Leu) | |
19 | g.35732899T>A | CA405427966 | KMT2B | n.656T>A c.6284T>A (p.Val2095Glu) c.3891T>A (n.3891T>A) c.1568T>A (p.Val523Glu) n.1503T>A c.1571T>A (p.Val524Glu) c.5892T>A c.6350T>A (p.Val2117Glu) c.704+570T>A (n.704+570T>A) c.3672T>A c.6074T>A (p.Val2025Glu) c.5786T>A (p.Val1929Glu) c.3314T>A (p.Val1105Glu) | |
19 | g.35732899T>C | CA405427973 | KMT2B | n.656T>C c.6284T>C (p.Val2095Ala) c.3891T>C (n.3891T>C) c.1568T>C (p.Val523Ala) n.1503T>C c.1571T>C (p.Val524Ala) c.5892T>C c.6350T>C (p.Val2117Ala) c.704+570T>C (n.704+570T>C) c.3672T>C c.6074T>C (p.Val2025Ala) c.5786T>C (p.Val1929Ala) c.3314T>C (p.Val1105Ala) | |
19 | g.35732899T>G | CA405427971 | KMT2B | n.656T>G c.6284T>G (p.Val2095Gly) c.3891T>G (n.3891T>G) c.1568T>G (p.Val523Gly) n.1503T>G c.1571T>G (p.Val524Gly) c.5892T>G c.6350T>G (p.Val2117Gly) c.704+570T>G (n.704+570T>G) c.3672T>G c.6074T>G (p.Val2025Gly) c.5786T>G (p.Val1929Gly) c.3314T>G (p.Val1105Gly) | |
19 | g.35732900G>A | CA507308641 | KMT2B | n.657G>A c.6285G>A (p.Val2095=) c.3892G>A (n.3892G>A) c.1569G>A (p.Val523=) n.1504G>A c.1572G>A (p.Val524=) c.5893G>A c.6351G>A (p.Val2117=) c.704+571G>A (n.704+571G>A) c.3673G>A c.6075G>A (p.Val2025=) c.5787G>A (p.Val1929=) c.3315G>A (p.Val1105=) | |
19 | g.35732900G>C | CA507308643 | KMT2B | n.657G>C c.6285G>C (p.Val2095=) c.3892G>C (n.3892G>C) c.1569G>C (p.Val523=) n.1504G>C c.1572G>C (p.Val524=) c.5893G>C c.6351G>C (p.Val2117=) c.704+571G>C (n.704+571G>C) c.3673G>C c.6075G>C (p.Val2025=) c.5787G>C (p.Val1929=) c.3315G>C (p.Val1105=) | |
19 | g.35732900G>T | CA507308644 | KMT2B | n.657G>T c.6285G>T (p.Val2095=) c.3892G>T (n.3892G>T) c.1569G>T (p.Val523=) n.1504G>T c.1572G>T (p.Val524=) c.5893G>T c.6351G>T (p.Val2117=) c.704+571G>T (n.704+571G>T) c.3673G>T c.6075G>T (p.Val2025=) c.5787G>T (p.Val1929=) c.3315G>T (p.Val1105=) | |
19 | g.35732901T>A | CA405427975 | KMT2B | n.658T>A c.6286T>A (p.Leu2096Met) c.3893T>A (n.3893T>A) c.1570T>A (p.Leu524Met) n.1505T>A c.1573T>A (p.Leu525Met) c.5894T>A c.6352T>A (p.Leu2118Met) c.704+572T>A (n.704+572T>A) c.3674T>A c.6076T>A (p.Leu2026Met) c.5788T>A (p.Leu1930Met) c.3316T>A (p.Leu1106Met) | |
19 | g.35732901T>C | CA507308647 | KMT2B | n.658T>C c.6286T>C (p.Leu2096=) c.3893T>C (n.3893T>C) c.1570T>C (p.Leu524=) n.1505T>C c.1573T>C (p.Leu525=) c.5894T>C c.6352T>C (p.Leu2118=) c.704+572T>C (n.704+572T>C) c.3674T>C c.6076T>C (p.Leu2026=) c.5788T>C (p.Leu1930=) c.3316T>C (p.Leu1106=) | |
19 | g.35732901T>G | CA405427977 | KMT2B | n.658T>G c.6286T>G (p.Leu2096Val) c.3893T>G (n.3893T>G) c.1570T>G (p.Leu524Val) n.1505T>G c.1573T>G (p.Leu525Val) c.5894T>G c.6352T>G (p.Leu2118Val) c.704+572T>G (n.704+572T>G) c.3674T>G c.6076T>G (p.Leu2026Val) c.5788T>G (p.Leu1930Val) c.3316T>G (p.Leu1106Val) | |
19 | g.35732902T>A | CA405427982 | KMT2B | n.659T>A c.6287T>A (p.Leu2096Ter) c.3894T>A (n.3894T>A) c.1571T>A (p.Leu524Ter) n.1506T>A c.1574T>A (p.Leu525Ter) c.5895T>A c.6353T>A (p.Leu2118Ter) c.704+573T>A (n.704+573T>A) c.3675T>A c.6077T>A (p.Leu2026Ter) c.5789T>A (p.Leu1930Ter) c.3317T>A (p.Leu1106Ter) | |
19 | g.35732902T>C | CA405427984 | KMT2B | n.659T>C c.6287T>C (p.Leu2096Ser) c.3894T>C (n.3894T>C) c.1571T>C (p.Leu524Ser) n.1506T>C c.1574T>C (p.Leu525Ser) c.5895T>C c.6353T>C (p.Leu2118Ser) c.704+573T>C (n.704+573T>C) c.3675T>C c.6077T>C (p.Leu2026Ser) c.5789T>C (p.Leu1930Ser) c.3317T>C (p.Leu1106Ser) | |
19 | g.35732902T>G | CA9385672 | KMT2B | n.659T>G c.6287T>G (p.Leu2096Trp) c.3894T>G (n.3894T>G) c.1571T>G (p.Leu524Trp) n.1506T>G c.1574T>G (p.Leu525Trp) c.5895T>G c.6353T>G (p.Leu2118Trp) c.704+573T>G (n.704+573T>G) c.3675T>G c.6077T>G (p.Leu2026Trp) c.5789T>G (p.Leu1930Trp) c.3317T>G (p.Leu1106Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732902T= | CA2333794554 | KMT2B | n.659T= c.6287T= (p.Leu2096=) c.3894T= (n.3894T=) c.1571T= (p.Leu524=) n.1506T= c.1574T= (p.Leu525=) c.5895T= c.6353T= (p.Leu2118=) c.704+573T= (n.704+573T=) c.3675T= c.6077T= (p.Leu2026=) c.5789T= (p.Leu1930=) c.3317T= (p.Leu1106=) | |
19 | g.35732903G>A | CA507308654 | KMT2B | n.660G>A c.6288G>A (p.Leu2096=) c.3895G>A (n.3895G>A) c.1572G>A (p.Leu524=) n.1507G>A c.1575G>A (p.Leu525=) c.5896G>A c.6354G>A (p.Leu2118=) c.704+574G>A (n.704+574G>A) c.3676G>A c.6078G>A (p.Leu2026=) c.5790G>A (p.Leu1930=) c.3318G>A (p.Leu1106=) | |
19 | g.35732903G>C | CA405427993 | KMT2B | n.660G>C c.6288G>C (p.Leu2096Phe) c.3895G>C (n.3895G>C) c.1572G>C (p.Leu524Phe) n.1507G>C c.1575G>C (p.Leu525Phe) c.5896G>C c.6354G>C (p.Leu2118Phe) c.704+574G>C (n.704+574G>C) c.3676G>C c.6078G>C (p.Leu2026Phe) c.5790G>C (p.Leu1930Phe) c.3318G>C (p.Leu1106Phe) | |
19 | g.35732903G>T | CA405427994 | KMT2B | n.660G>T c.6288G>T (p.Leu2096Phe) c.3895G>T (n.3895G>T) c.1572G>T (p.Leu524Phe) n.1507G>T c.1575G>T (p.Leu525Phe) c.5896G>T c.6354G>T (p.Leu2118Phe) c.704+574G>T (n.704+574G>T) c.3676G>T c.6078G>T (p.Leu2026Phe) c.5790G>T (p.Leu1930Phe) c.3318G>T (p.Leu1106Phe) | |
19 | g.35732906_35732908dup | CA2580613112 | KMT2B | n.663_665dup c.6291_6293dup (p.Lys2097_Asn2098insLys) c.3898_3900dup (n.3898_3900dup) c.1575_1577dup (p.Lys525_Asn526insLys) n.1510_1512dup c.1578_1580dup (p.Lys526_Asn527insLys) c.5899_5901dup c.6357_6359dup (p.Lys2119_Asn2120insLys) c.704+577_704+579dup (n.704+577_704+579dup) c.3679_3681dup c.6081_6083dup (p.Lys2027_Asn2028insLys) c.5793_5795dup (p.Lys1931_Asn1932insLys) c.3321_3323dup (p.Lys1107_Asn1108insLys) | ClinVar |
19 | g.35732904A>C | CA405427998 | KMT2B | n.661A>C c.6289A>C (p.Lys2097Gln) c.3896A>C (n.3896A>C) c.1573A>C (p.Lys525Gln) n.1508A>C c.1576A>C (p.Lys526Gln) c.5897A>C c.6355A>C (p.Lys2119Gln) c.704+575A>C (n.704+575A>C) c.3677A>C c.6079A>C (p.Lys2027Gln) c.5791A>C (p.Lys1931Gln) c.3319A>C (p.Lys1107Gln) | |
19 | g.35732904A>G | CA405428001 | KMT2B | n.661A>G c.6289A>G (p.Lys2097Glu) c.3896A>G (n.3896A>G) c.1573A>G (p.Lys525Glu) n.1508A>G c.1576A>G (p.Lys526Glu) c.5897A>G c.6355A>G (p.Lys2119Glu) c.704+575A>G (n.704+575A>G) c.3677A>G c.6079A>G (p.Lys2027Glu) c.5791A>G (p.Lys1931Glu) c.3319A>G (p.Lys1107Glu) | |
19 | g.35732904A>T | CA405428004 | KMT2B | n.661A>T c.6289A>T (p.Lys2097Ter) c.3896A>T (n.3896A>T) c.1573A>T (p.Lys525Ter) n.1508A>T c.1576A>T (p.Lys526Ter) c.5897A>T c.6355A>T (p.Lys2119Ter) c.704+575A>T (n.704+575A>T) c.3677A>T c.6079A>T (p.Lys2027Ter) c.5791A>T (p.Lys1931Ter) c.3319A>T (p.Lys1107Ter) | |
19 | g.35732905A>C | CA405428012 | KMT2B | n.662A>C c.6290A>C (p.Lys2097Thr) c.3897A>C (n.3897A>C) c.1574A>C (p.Lys525Thr) n.1509A>C c.1577A>C (p.Lys526Thr) c.5898A>C c.6356A>C (p.Lys2119Thr) c.704+576A>C (n.704+576A>C) c.3678A>C c.6080A>C (p.Lys2027Thr) c.5792A>C (p.Lys1931Thr) c.3320A>C (p.Lys1107Thr) | |
19 | g.35732905A>G | CA405428010 | KMT2B | n.662A>G c.6290A>G (p.Lys2097Arg) c.3897A>G (n.3897A>G) c.1574A>G (p.Lys525Arg) n.1509A>G c.1577A>G (p.Lys526Arg) c.5898A>G c.6356A>G (p.Lys2119Arg) c.704+576A>G (n.704+576A>G) c.3678A>G c.6080A>G (p.Lys2027Arg) c.5792A>G (p.Lys1931Arg) c.3320A>G (p.Lys1107Arg) | |
19 | g.35732905A>T | CA405428008 | KMT2B | n.662A>T c.6290A>T (p.Lys2097Met) c.3897A>T (n.3897A>T) c.1574A>T (p.Lys525Met) n.1509A>T c.1577A>T (p.Lys526Met) c.5898A>T c.6356A>T (p.Lys2119Met) c.704+576A>T (n.704+576A>T) c.3678A>T c.6080A>T (p.Lys2027Met) c.5792A>T (p.Lys1931Met) c.3320A>T (p.Lys1107Met) | |
19 | g.35732906G>A | CA507308668 | KMT2B | n.663G>A c.6291G>A (p.Lys2097=) c.3898G>A (n.3898G>A) c.1575G>A (p.Lys525=) n.1510G>A c.1578G>A (p.Lys526=) c.5899G>A c.6357G>A (p.Lys2119=) c.704+577G>A (n.704+577G>A) c.3679G>A c.6081G>A (p.Lys2027=) c.5793G>A (p.Lys1931=) c.3321G>A (p.Lys1107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732906G>C | CA405428018 | KMT2B | n.663G>C c.6291G>C (p.Lys2097Asn) c.3898G>C (n.3898G>C) c.1575G>C (p.Lys525Asn) n.1510G>C c.1578G>C (p.Lys526Asn) c.5899G>C c.6357G>C (p.Lys2119Asn) c.704+577G>C (n.704+577G>C) c.3679G>C c.6081G>C (p.Lys2027Asn) c.5793G>C (p.Lys1931Asn) c.3321G>C (p.Lys1107Asn) | |
19 | g.35732906G= | CA2333794555 | KMT2B | n.663G= c.6291G= (p.Lys2097=) c.3898G= (n.3898G=) c.1575G= (p.Lys525=) n.1510G= c.1578G= (p.Lys526=) c.5899G= c.6357G= (p.Lys2119=) c.704+577G= (n.704+577G=) c.3679G= c.6081G= (p.Lys2027=) c.5793G= (p.Lys1931=) c.3321G= (p.Lys1107=) | |
19 | g.35732906G>T | CA405428020 | KMT2B | n.663G>T c.6291G>T (p.Lys2097Asn) c.3898G>T (n.3898G>T) c.1575G>T (p.Lys525Asn) n.1510G>T c.1578G>T (p.Lys526Asn) c.5899G>T c.6357G>T (p.Lys2119Asn) c.704+577G>T (n.704+577G>T) c.3679G>T c.6081G>T (p.Lys2027Asn) c.5793G>T (p.Lys1931Asn) c.3321G>T (p.Lys1107Asn) | gnomAD v4 |
19 | g.35732907A>C | CA405428023 | KMT2B | n.664A>C c.6292A>C (p.Asn2098His) c.3899A>C (n.3899A>C) c.1576A>C (p.Asn526His) n.1511A>C c.1579A>C (p.Asn527His) c.5900A>C c.6358A>C (p.Asn2120His) c.704+578A>C (n.704+578A>C) c.3680A>C c.6082A>C (p.Asn2028His) c.5794A>C (p.Asn1932His) c.3322A>C (p.Asn1108His) | |
19 | g.35732907A>G | CA405428030 | KMT2B | n.664A>G c.6292A>G (p.Asn2098Asp) c.3899A>G (n.3899A>G) c.1576A>G (p.Asn526Asp) n.1511A>G c.1579A>G (p.Asn527Asp) c.5900A>G c.6358A>G (p.Asn2120Asp) c.704+578A>G (n.704+578A>G) c.3680A>G c.6082A>G (p.Asn2028Asp) c.5794A>G (p.Asn1932Asp) c.3322A>G (p.Asn1108Asp) | |
19 | g.35732907A>T | CA405428025 | KMT2B | n.664A>T c.6292A>T (p.Asn2098Tyr) c.3899A>T (n.3899A>T) c.1576A>T (p.Asn526Tyr) n.1511A>T c.1579A>T (p.Asn527Tyr) c.5900A>T c.6358A>T (p.Asn2120Tyr) c.704+578A>T (n.704+578A>T) c.3680A>T c.6082A>T (p.Asn2028Tyr) c.5794A>T (p.Asn1932Tyr) c.3322A>T (p.Asn1108Tyr) | |
19 | g.35732908A>C | CA405428033 | KMT2B | n.665A>C c.6293A>C (p.Asn2098Thr) c.3900A>C (n.3900A>C) c.1577A>C (p.Asn526Thr) n.1512A>C c.1580A>C (p.Asn527Thr) c.5901A>C c.6359A>C (p.Asn2120Thr) c.704+579A>C (n.704+579A>C) c.3681A>C c.6083A>C (p.Asn2028Thr) c.5795A>C (p.Asn1932Thr) c.3323A>C (p.Asn1108Thr) | |
19 | g.35732908A>G | CA405428034 | KMT2B | n.665A>G c.6293A>G (p.Asn2098Ser) c.3900A>G (n.3900A>G) c.1577A>G (p.Asn526Ser) n.1512A>G c.1580A>G (p.Asn527Ser) c.5901A>G c.6359A>G (p.Asn2120Ser) c.704+579A>G (n.704+579A>G) c.3681A>G c.6083A>G (p.Asn2028Ser) c.5795A>G (p.Asn1932Ser) c.3323A>G (p.Asn1108Ser) | |
19 | g.35732908A>T | CA405428037 | KMT2B | n.665A>T c.6293A>T (p.Asn2098Ile) c.3900A>T (n.3900A>T) c.1577A>T (p.Asn526Ile) n.1512A>T c.1580A>T (p.Asn527Ile) c.5901A>T c.6359A>T (p.Asn2120Ile) c.704+579A>T (n.704+579A>T) c.3681A>T c.6083A>T (p.Asn2028Ile) c.5795A>T (p.Asn1932Ile) c.3323A>T (p.Asn1108Ile) | |
19 | g.35732909C>A | CA307796700 | KMT2B | n.666C>A c.6294C>A (p.Asn2098Lys) c.3901C>A (n.3901C>A) c.1578C>A (p.Asn526Lys) n.1513C>A c.1581C>A (p.Asn527Lys) c.5902C>A c.6360C>A (p.Asn2120Lys) c.704+580C>A (n.704+580C>A) c.3682C>A c.6084C>A (p.Asn2028Lys) c.5796C>A (p.Asn1932Lys) c.3324C>A (p.Asn1108Lys) | dbSNP |
19 | g.35732909C= | CA2333794556 | KMT2B | n.666C= c.6294C= (p.Asn2098=) c.3901C= (n.3901C=) c.1578C= (p.Asn526=) n.1513C= c.1581C= (p.Asn527=) c.5902C= c.6360C= (p.Asn2120=) c.704+580C= (n.704+580C=) c.3682C= c.6084C= (p.Asn2028=) c.5796C= (p.Asn1932=) c.3324C= (p.Asn1108=) | |
19 | g.35732909C>G | CA405428041 | KMT2B | n.666C>G c.6294C>G (p.Asn2098Lys) c.3901C>G (n.3901C>G) c.1578C>G (p.Asn526Lys) n.1513C>G c.1581C>G (p.Asn527Lys) c.5902C>G c.6360C>G (p.Asn2120Lys) c.704+580C>G (n.704+580C>G) c.3682C>G c.6084C>G (p.Asn2028Lys) c.5796C>G (p.Asn1932Lys) c.3324C>G (p.Asn1108Lys) | |
19 | g.35732909C>T | CA507308674 | KMT2B | n.666C>T c.6294C>T (p.Asn2098=) c.3901C>T (n.3901C>T) c.1578C>T (p.Asn526=) n.1513C>T c.1581C>T (p.Asn527=) c.5902C>T c.6360C>T (p.Asn2120=) c.704+580C>T (n.704+580C>T) c.3682C>T c.6084C>T (p.Asn2028=) c.5796C>T (p.Asn1932=) c.3324C>T (p.Asn1108=) |