Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33743867_33743869delinsCTGCA2294857879ASXL3c.4022_4024delinsCTG (p.Ser1341=)
c.4019_4021delinsCTG (p.Ser1340=)
c.3899_3901delinsCTG (p.Ser1300=)
c.3995_3997delinsCTG (p.Ser1332=)
c.3941_3943delinsCTG (p.Ser1314=)
c.3902_3904delinsCTG (p.Ser1301=)
c.3851_3853delinsCTG (p.Ser1284=)
c.983_985delinsCTG (p.Ser328=)
18g.33743868T>ACA503770371ASXL3c.4023T>A (p.Ser1341=)
c.4020T>A (p.Ser1340=)
c.3900T>A (p.Ser1300=)
c.3996T>A (p.Ser1332=)
c.3942T>A (p.Ser1314=)
c.3903T>A (p.Ser1301=)
c.3852T>A (p.Ser1284=)
c.984T>A (p.Ser328=)
18g.33743868T>CCA503770372ASXL3c.4023T>C (p.Ser1341=)
c.4020T>C (p.Ser1340=)
c.3900T>C (p.Ser1300=)
c.3996T>C (p.Ser1332=)
c.3942T>C (p.Ser1314=)
c.3903T>C (p.Ser1301=)
c.3852T>C (p.Ser1284=)
c.984T>C (p.Ser328=)
18g.33743868T>GCA503770373ASXL3c.4023T>G (p.Ser1341=)
c.4020T>G (p.Ser1340=)
c.3900T>G (p.Ser1300=)
c.3996T>G (p.Ser1332=)
c.3942T>G (p.Ser1314=)
c.3903T>G (p.Ser1301=)
c.3852T>G (p.Ser1284=)
c.984T>G (p.Ser328=)
18g.33743870_33743871delCA10603619ASXL3c.4025_4026del (p.Val1342AlafsTer15)
c.4022_4023del (p.Val1341AlafsTer15)
c.3902_3903del (p.Val1301AlafsTer15)
c.3998_3999del (p.Val1333AlafsTer15)
c.3944_3945del (p.Val1315AlafsTer15)
c.3905_3906del (p.Val1302AlafsTer15)
c.3854_3855del (p.Val1285AlafsTer15)
c.986_987del (p.Val329AlafsTer15)
 ClinVar dbSNP
18g.33743869G>ACA402189540ASXL3c.4024G>A (p.Val1342Met)
c.4021G>A (p.Val1341Met)
c.3901G>A (p.Val1301Met)
c.3997G>A (p.Val1333Met)
c.3943G>A (p.Val1315Met)
c.3904G>A (p.Val1302Met)
c.3853G>A (p.Val1285Met)
c.985G>A (p.Val329Met)
 gnomAD v4
18g.33743869G>CCA402189543ASXL3c.4024G>C (p.Val1342Leu)
c.4021G>C (p.Val1341Leu)
c.3901G>C (p.Val1301Leu)
c.3997G>C (p.Val1333Leu)
c.3943G>C (p.Val1315Leu)
c.3904G>C (p.Val1302Leu)
c.3853G>C (p.Val1285Leu)
c.985G>C (p.Val329Leu)
18g.33743869G>TCA402189537ASXL3c.4024G>T (p.Val1342Leu)
c.4021G>T (p.Val1341Leu)
c.3901G>T (p.Val1301Leu)
c.3997G>T (p.Val1333Leu)
c.3943G>T (p.Val1315Leu)
c.3904G>T (p.Val1302Leu)
c.3853G>T (p.Val1285Leu)
c.985G>T (p.Val329Leu)
18g.33743870T>ACA402189545ASXL3c.4025T>A (p.Val1342Glu)
c.4022T>A (p.Val1341Glu)
c.3902T>A (p.Val1301Glu)
c.3998T>A (p.Val1333Glu)
c.3944T>A (p.Val1315Glu)
c.3905T>A (p.Val1302Glu)
c.3854T>A (p.Val1285Glu)
c.986T>A (p.Val329Glu)
18g.33743870T>CCA402189548ASXL3c.4025T>C (p.Val1342Ala)
c.4022T>C (p.Val1341Ala)
c.3902T>C (p.Val1301Ala)
c.3998T>C (p.Val1333Ala)
c.3944T>C (p.Val1315Ala)
c.3905T>C (p.Val1302Ala)
c.3854T>C (p.Val1285Ala)
c.986T>C (p.Val329Ala)
18g.33743870T>GCA402189551ASXL3c.4025T>G (p.Val1342Gly)
c.4022T>G (p.Val1341Gly)
c.3902T>G (p.Val1301Gly)
c.3998T>G (p.Val1333Gly)
c.3944T>G (p.Val1315Gly)
c.3905T>G (p.Val1302Gly)
c.3854T>G (p.Val1285Gly)
c.986T>G (p.Val329Gly)
18g.33743871G>ACA503770385ASXL3c.4026G>A (p.Val1342=)
c.4023G>A (p.Val1341=)
c.3903G>A (p.Val1301=)
c.3999G>A (p.Val1333=)
c.3945G>A (p.Val1315=)
c.3906G>A (p.Val1302=)
c.3855G>A (p.Val1285=)
c.987G>A (p.Val329=)
18g.33743871G>CCA503770387ASXL3c.4026G>C (p.Val1342=)
c.4023G>C (p.Val1341=)
c.3903G>C (p.Val1301=)
c.3999G>C (p.Val1333=)
c.3945G>C (p.Val1315=)
c.3906G>C (p.Val1302=)
c.3855G>C (p.Val1285=)
c.987G>C (p.Val329=)
18g.33743871G>TCA503770388ASXL3c.4026G>T (p.Val1342=)
c.4023G>T (p.Val1341=)
c.3903G>T (p.Val1301=)
c.3999G>T (p.Val1333=)
c.3945G>T (p.Val1315=)
c.3906G>T (p.Val1302=)
c.3855G>T (p.Val1285=)
c.987G>T (p.Val329=)
18g.33743872C>ACA402189554ASXL3c.4027C>A (p.Pro1343Thr)
c.4024C>A (p.Pro1342Thr)
c.3904C>A (p.Pro1302Thr)
c.4000C>A (p.Pro1334Thr)
c.3946C>A (p.Pro1316Thr)
c.3907C>A (p.Pro1303Thr)
c.3856C>A (p.Pro1286Thr)
c.988C>A (p.Pro330Thr)
18g.33743872C=CA2294857880ASXL3c.4027C= (p.Pro1343=)
c.4024C= (p.Pro1342=)
c.3904C= (p.Pro1302=)
c.4000C= (p.Pro1334=)
c.3946C= (p.Pro1316=)
c.3907C= (p.Pro1303=)
c.3856C= (p.Pro1286=)
c.988C= (p.Pro330=)
18g.33743872C>GCA402189557ASXL3c.4027C>G (p.Pro1343Ala)
c.4024C>G (p.Pro1342Ala)
c.3904C>G (p.Pro1302Ala)
c.4000C>G (p.Pro1334Ala)
c.3946C>G (p.Pro1316Ala)
c.3907C>G (p.Pro1303Ala)
c.3856C>G (p.Pro1286Ala)
c.988C>G (p.Pro330Ala)
18g.33743872C>TCA8934159ASXL3c.4027C>T (p.Pro1343Ser)
c.4024C>T (p.Pro1342Ser)
c.3904C>T (p.Pro1302Ser)
c.4000C>T (p.Pro1334Ser)
c.3946C>T (p.Pro1316Ser)
c.3907C>T (p.Pro1303Ser)
c.3856C>T (p.Pro1286Ser)
c.988C>T (p.Pro330Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743873C>ACA402189564ASXL3c.4028C>A (p.Pro1343Gln)
c.4025C>A (p.Pro1342Gln)
c.3905C>A (p.Pro1302Gln)
c.4001C>A (p.Pro1334Gln)
c.3947C>A (p.Pro1316Gln)
c.3908C>A (p.Pro1303Gln)
c.3857C>A (p.Pro1286Gln)
c.989C>A (p.Pro330Gln)
18g.33743873C=CA2294857881ASXL3c.4028C= (p.Pro1343=)
c.4025C= (p.Pro1342=)
c.3905C= (p.Pro1302=)
c.4001C= (p.Pro1334=)
c.3947C= (p.Pro1316=)
c.3908C= (p.Pro1303=)
c.3857C= (p.Pro1286=)
c.989C= (p.Pro330=)
18g.33743873C>GCA402189568ASXL3c.4028C>G (p.Pro1343Arg)
c.4025C>G (p.Pro1342Arg)
c.3905C>G (p.Pro1302Arg)
c.4001C>G (p.Pro1334Arg)
c.3947C>G (p.Pro1316Arg)
c.3908C>G (p.Pro1303Arg)
c.3857C>G (p.Pro1286Arg)
c.989C>G (p.Pro330Arg)
18g.33743873C>TCA402189565ASXL3c.4028C>T (p.Pro1343Leu)
c.4025C>T (p.Pro1342Leu)
c.3905C>T (p.Pro1302Leu)
c.4001C>T (p.Pro1334Leu)
c.3947C>T (p.Pro1316Leu)
c.3908C>T (p.Pro1303Leu)
c.3857C>T (p.Pro1286Leu)
c.989C>T (p.Pro330Leu)
 dbSNP
18g.33743874A>CCA503770395ASXL3c.4029A>C (p.Pro1343=)
c.4026A>C (p.Pro1342=)
c.3906A>C (p.Pro1302=)
c.4002A>C (p.Pro1334=)
c.3948A>C (p.Pro1316=)
c.3909A>C (p.Pro1303=)
c.3858A>C (p.Pro1286=)
c.990A>C (p.Pro330=)
18g.33743874A>GCA503770397ASXL3c.4029A>G (p.Pro1343=)
c.4026A>G (p.Pro1342=)
c.3906A>G (p.Pro1302=)
c.4002A>G (p.Pro1334=)
c.3948A>G (p.Pro1316=)
c.3909A>G (p.Pro1303=)
c.3858A>G (p.Pro1286=)
c.990A>G (p.Pro330=)
18g.33743874A>TCA503770399ASXL3c.4029A>T (p.Pro1343=)
c.4026A>T (p.Pro1342=)
c.3906A>T (p.Pro1302=)
c.4002A>T (p.Pro1334=)
c.3948A>T (p.Pro1316=)
c.3909A>T (p.Pro1303=)
c.3858A>T (p.Pro1286=)
c.990A>T (p.Pro330=)
18g.33743875A=CA2294857882ASXL3c.4030A= (p.Thr1344=)
c.4027A= (p.Thr1343=)
c.3907A= (p.Thr1303=)
c.4003A= (p.Thr1335=)
c.3949A= (p.Thr1317=)
c.3910A= (p.Thr1304=)
c.3859A= (p.Thr1287=)
c.991A= (p.Thr331=)
18g.33743875A>CCA402189576ASXL3c.4030A>C (p.Thr1344Pro)
c.4027A>C (p.Thr1343Pro)
c.3907A>C (p.Thr1303Pro)
c.4003A>C (p.Thr1335Pro)
c.3949A>C (p.Thr1317Pro)
c.3910A>C (p.Thr1304Pro)
c.3859A>C (p.Thr1287Pro)
c.991A>C (p.Thr331Pro)
18g.33743875A>GCA8934160ASXL3c.4030A>G (p.Thr1344Ala)
c.4027A>G (p.Thr1343Ala)
c.3907A>G (p.Thr1303Ala)
c.4003A>G (p.Thr1335Ala)
c.3949A>G (p.Thr1317Ala)
c.3910A>G (p.Thr1304Ala)
c.3859A>G (p.Thr1287Ala)
c.991A>G (p.Thr331Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743875A>TCA402189581ASXL3c.4030A>T (p.Thr1344Ser)
c.4027A>T (p.Thr1343Ser)
c.3907A>T (p.Thr1303Ser)
c.4003A>T (p.Thr1335Ser)
c.3949A>T (p.Thr1317Ser)
c.3910A>T (p.Thr1304Ser)
c.3859A>T (p.Thr1287Ser)
c.991A>T (p.Thr331Ser)
18g.33743876C>ACA402189586ASXL3c.4031C>A (p.Thr1344Asn)
c.4028C>A (p.Thr1343Asn)
c.3908C>A (p.Thr1303Asn)
c.4004C>A (p.Thr1335Asn)
c.3950C>A (p.Thr1317Asn)
c.3911C>A (p.Thr1304Asn)
c.3860C>A (p.Thr1287Asn)
c.992C>A (p.Thr331Asn)
18g.33743876C=CA2294857883ASXL3c.4031C= (p.Thr1344=)
c.4028C= (p.Thr1343=)
c.3908C= (p.Thr1303=)
c.4004C= (p.Thr1335=)
c.3950C= (p.Thr1317=)
c.3911C= (p.Thr1304=)
c.3860C= (p.Thr1287=)
c.992C= (p.Thr331=)
18g.33743876C>GCA402189588ASXL3c.4031C>G (p.Thr1344Ser)
c.4028C>G (p.Thr1343Ser)
c.3908C>G (p.Thr1303Ser)
c.4004C>G (p.Thr1335Ser)
c.3950C>G (p.Thr1317Ser)
c.3911C>G (p.Thr1304Ser)
c.3860C>G (p.Thr1287Ser)
c.992C>G (p.Thr331Ser)
 dbSNP
18g.33743876C>TCA402189590ASXL3c.4031C>T (p.Thr1344Ile)
c.4028C>T (p.Thr1343Ile)
c.3908C>T (p.Thr1303Ile)
c.4004C>T (p.Thr1335Ile)
c.3950C>T (p.Thr1317Ile)
c.3911C>T (p.Thr1304Ile)
c.3860C>T (p.Thr1287Ile)
c.992C>T (p.Thr331Ile)
 dbSNP gnomAD v4
18g.33743877T>ACA503770408ASXL3c.4032T>A (p.Thr1344=)
c.4029T>A (p.Thr1343=)
c.3909T>A (p.Thr1303=)
c.4005T>A (p.Thr1335=)
c.3951T>A (p.Thr1317=)
c.3912T>A (p.Thr1304=)
c.3861T>A (p.Thr1287=)
c.993T>A (p.Thr331=)
18g.33743877T>CCA503770410ASXL3c.4032T>C (p.Thr1344=)
c.4029T>C (p.Thr1343=)
c.3909T>C (p.Thr1303=)
c.4005T>C (p.Thr1335=)
c.3951T>C (p.Thr1317=)
c.3912T>C (p.Thr1304=)
c.3861T>C (p.Thr1287=)
c.993T>C (p.Thr331=)
18g.33743877T>GCA503770409ASXL3c.4032T>G (p.Thr1344=)
c.4029T>G (p.Thr1343=)
c.3909T>G (p.Thr1303=)
c.4005T>G (p.Thr1335=)
c.3951T>G (p.Thr1317=)
c.3912T>G (p.Thr1304=)
c.3861T>G (p.Thr1287=)
c.993T>G (p.Thr331=)
18g.33743878C>ACA402189600ASXL3c.4033C>A (p.Pro1345Thr)
c.4030C>A (p.Pro1344Thr)
c.3910C>A (p.Pro1304Thr)
c.4006C>A (p.Pro1336Thr)
c.3952C>A (p.Pro1318Thr)
c.3913C>A (p.Pro1305Thr)
c.3862C>A (p.Pro1288Thr)
c.994C>A (p.Pro332Thr)
 gnomAD v4
18g.33743878C>GCA402189607ASXL3c.4033C>G (p.Pro1345Ala)
c.4030C>G (p.Pro1344Ala)
c.3910C>G (p.Pro1304Ala)
c.4006C>G (p.Pro1336Ala)
c.3952C>G (p.Pro1318Ala)
c.3913C>G (p.Pro1305Ala)
c.3862C>G (p.Pro1288Ala)
c.994C>G (p.Pro332Ala)
18g.33743878C>TCA402189597ASXL3c.4033C>T (p.Pro1345Ser)
c.4030C>T (p.Pro1344Ser)
c.3910C>T (p.Pro1304Ser)
c.4006C>T (p.Pro1336Ser)
c.3952C>T (p.Pro1318Ser)
c.3913C>T (p.Pro1305Ser)
c.3862C>T (p.Pro1288Ser)
c.994C>T (p.Pro332Ser)
18g.33743879C>ACA402189610ASXL3c.4034C>A (p.Pro1345His)
c.4031C>A (p.Pro1344His)
c.3911C>A (p.Pro1304His)
c.4007C>A (p.Pro1336His)
c.3953C>A (p.Pro1318His)
c.3914C>A (p.Pro1305His)
c.3863C>A (p.Pro1288His)
c.995C>A (p.Pro332His)
18g.33743879C>GCA402189612ASXL3c.4034C>G (p.Pro1345Arg)
c.4031C>G (p.Pro1344Arg)
c.3911C>G (p.Pro1304Arg)
c.4007C>G (p.Pro1336Arg)
c.3953C>G (p.Pro1318Arg)
c.3914C>G (p.Pro1305Arg)
c.3863C>G (p.Pro1288Arg)
c.995C>G (p.Pro332Arg)
18g.33743879C>TCA402189615ASXL3c.4034C>T (p.Pro1345Leu)
c.4031C>T (p.Pro1344Leu)
c.3911C>T (p.Pro1304Leu)
c.4007C>T (p.Pro1336Leu)
c.3953C>T (p.Pro1318Leu)
c.3914C>T (p.Pro1305Leu)
c.3863C>T (p.Pro1288Leu)
c.995C>T (p.Pro332Leu)
 gnomAD v4
18g.33743880C>ACA503770415ASXL3c.4035C>A (p.Pro1345=)
c.4032C>A (p.Pro1344=)
c.3912C>A (p.Pro1304=)
c.4008C>A (p.Pro1336=)
c.3954C>A (p.Pro1318=)
c.3915C>A (p.Pro1305=)
c.3864C>A (p.Pro1288=)
c.996C>A (p.Pro332=)
18g.33743880C=CA2294857884ASXL3c.4035C= (p.Pro1345=)
c.4032C= (p.Pro1344=)
c.3912C= (p.Pro1304=)
c.4008C= (p.Pro1336=)
c.3954C= (p.Pro1318=)
c.3915C= (p.Pro1305=)
c.3864C= (p.Pro1288=)
c.996C= (p.Pro332=)
18g.33743880C>GCA503770416ASXL3c.4035C>G (p.Pro1345=)
c.4032C>G (p.Pro1344=)
c.3912C>G (p.Pro1304=)
c.4008C>G (p.Pro1336=)
c.3954C>G (p.Pro1318=)
c.3915C>G (p.Pro1305=)
c.3864C>G (p.Pro1288=)
c.996C>G (p.Pro332=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743880C>TCA503770417ASXL3c.4035C>T (p.Pro1345=)
c.4032C>T (p.Pro1344=)
c.3912C>T (p.Pro1304=)
c.4008C>T (p.Pro1336=)
c.3954C>T (p.Pro1318=)
c.3915C>T (p.Pro1305=)
c.3864C>T (p.Pro1288=)
c.996C>T (p.Pro332=)
18g.33743881T>ACA402189620ASXL3c.4036T>A (p.Ser1346Thr)
c.4033T>A (p.Ser1345Thr)
c.3913T>A (p.Ser1305Thr)
c.4009T>A (p.Ser1337Thr)
c.3955T>A (p.Ser1319Thr)
c.3916T>A (p.Ser1306Thr)
c.3865T>A (p.Ser1289Thr)
c.997T>A (p.Ser333Thr)
18g.33743881T>CCA402189623ASXL3c.4036T>C (p.Ser1346Pro)
c.4033T>C (p.Ser1345Pro)
c.3913T>C (p.Ser1305Pro)
c.4009T>C (p.Ser1337Pro)
c.3955T>C (p.Ser1319Pro)
c.3916T>C (p.Ser1306Pro)
c.3865T>C (p.Ser1289Pro)
c.997T>C (p.Ser333Pro)
18g.33743881T>GCA402189626ASXL3c.4036T>G (p.Ser1346Ala)
c.4033T>G (p.Ser1345Ala)
c.3913T>G (p.Ser1305Ala)
c.4009T>G (p.Ser1337Ala)
c.3955T>G (p.Ser1319Ala)
c.3916T>G (p.Ser1306Ala)
c.3865T>G (p.Ser1289Ala)
c.997T>G (p.Ser333Ala)
18g.33743882C>ACA402189630ASXL3c.4037C>A (p.Ser1346Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3914C>A (p.Ser1305Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3917C>A (p.Ser1306Tyr)
c.3866C>A (p.Ser1289Tyr)
c.998C>A (p.Ser333Tyr)
18g.33743882C=CA2294857885ASXL3c.4037C= (p.Ser1346=)
c.4034C= (p.Ser1345=)
c.3914C= (p.Ser1305=)
c.4010C= (p.Ser1337=)
c.3956C= (p.Ser1319=)
c.3917C= (p.Ser1306=)
c.3866C= (p.Ser1289=)
c.998C= (p.Ser333=)
18g.33743882C>GCA402189633ASXL3c.4037C>G (p.Ser1346Cys)
c.4034C>G (p.Ser1345Cys)
c.3914C>G (p.Ser1305Cys)
c.4010C>G (p.Ser1337Cys)
c.3956C>G (p.Ser1319Cys)
c.3917C>G (p.Ser1306Cys)
c.3866C>G (p.Ser1289Cys)
c.998C>G (p.Ser333Cys)
 gnomAD v4
18g.33743882C>TCA402189637ASXL3c.4037C>T (p.Ser1346Phe)
c.4034C>T (p.Ser1345Phe)
c.3914C>T (p.Ser1305Phe)
c.4010C>T (p.Ser1337Phe)
c.3956C>T (p.Ser1319Phe)
c.3917C>T (p.Ser1306Phe)
c.3866C>T (p.Ser1289Phe)
c.998C>T (p.Ser333Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.33743883C>ACA503770427ASXL3c.4038C>A (p.Ser1346=)
c.4035C>A (p.Ser1345=)
c.3915C>A (p.Ser1305=)
c.4011C>A (p.Ser1337=)
c.3957C>A (p.Ser1319=)
c.3918C>A (p.Ser1306=)
c.3867C>A (p.Ser1289=)
c.999C>A (p.Ser333=)
18g.33743883C=CA2294857886ASXL3c.4038C= (p.Ser1346=)
c.4035C= (p.Ser1345=)
c.3915C= (p.Ser1305=)
c.4011C= (p.Ser1337=)
c.3957C= (p.Ser1319=)
c.3918C= (p.Ser1306=)
c.3867C= (p.Ser1289=)
c.999C= (p.Ser333=)
18g.33743883C>GCA503770428ASXL3c.4038C>G (p.Ser1346=)
c.4035C>G (p.Ser1345=)
c.3915C>G (p.Ser1305=)
c.4011C>G (p.Ser1337=)
c.3957C>G (p.Ser1319=)
c.3918C>G (p.Ser1306=)
c.3867C>G (p.Ser1289=)
c.999C>G (p.Ser333=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743883C>TCA503770429ASXL3c.4038C>T (p.Ser1346=)
c.4035C>T (p.Ser1345=)
c.3915C>T (p.Ser1305=)
c.4011C>T (p.Ser1337=)
c.3957C>T (p.Ser1319=)
c.3918C>T (p.Ser1306=)
c.3867C>T (p.Ser1289=)
c.999C>T (p.Ser333=)
 gnomAD v4
18g.33743884A=CA2294857887ASXL3c.4039A= (p.Ile1347=)
c.4036A= (p.Ile1346=)
c.3916A= (p.Ile1306=)
c.4012A= (p.Ile1338=)
c.3958A= (p.Ile1320=)
c.3919A= (p.Ile1307=)
c.3868A= (p.Ile1290=)
c.1000A= (p.Ile334=)
18g.33743884A>CCA8934162ASXL3c.4039A>C (p.Ile1347Leu)
c.4036A>C (p.Ile1346Leu)
c.3916A>C (p.Ile1306Leu)
c.4012A>C (p.Ile1338Leu)
c.3958A>C (p.Ile1320Leu)
c.3919A>C (p.Ile1307Leu)
c.3868A>C (p.Ile1290Leu)
c.1000A>C (p.Ile334Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>GCA8934161ASXL3c.4039A>G (p.Ile1347Val)
c.4036A>G (p.Ile1346Val)
c.3916A>G (p.Ile1306Val)
c.4012A>G (p.Ile1338Val)
c.3958A>G (p.Ile1320Val)
c.3919A>G (p.Ile1307Val)
c.3868A>G (p.Ile1290Val)
c.1000A>G (p.Ile334Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743884A>TCA402189642ASXL3c.4039A>T (p.Ile1347Phe)
c.4036A>T (p.Ile1346Phe)
c.3916A>T (p.Ile1306Phe)
c.4012A>T (p.Ile1338Phe)
c.3958A>T (p.Ile1320Phe)
c.3919A>T (p.Ile1307Phe)
c.3868A>T (p.Ile1290Phe)
c.1000A>T (p.Ile334Phe)
18g.33743885T>ACA402189649ASXL3c.4040T>A (p.Ile1347Asn)
c.4037T>A (p.Ile1346Asn)
c.3917T>A (p.Ile1306Asn)
c.4013T>A (p.Ile1338Asn)
c.3959T>A (p.Ile1320Asn)
c.3920T>A (p.Ile1307Asn)
c.3869T>A (p.Ile1290Asn)
c.1001T>A (p.Ile334Asn)
18g.33743885T>CCA402189651ASXL3c.4040T>C (p.Ile1347Thr)
c.4037T>C (p.Ile1346Thr)
c.3917T>C (p.Ile1306Thr)
c.4013T>C (p.Ile1338Thr)
c.3959T>C (p.Ile1320Thr)
c.3920T>C (p.Ile1307Thr)
c.3869T>C (p.Ile1290Thr)
c.1001T>C (p.Ile334Thr)
18g.33743885T>GCA402189645ASXL3c.4040T>G (p.Ile1347Ser)
c.4037T>G (p.Ile1346Ser)
c.3917T>G (p.Ile1306Ser)
c.4013T>G (p.Ile1338Ser)
c.3959T>G (p.Ile1320Ser)
c.3920T>G (p.Ile1307Ser)
c.3869T>G (p.Ile1290Ser)
c.1001T>G (p.Ile334Ser)
18g.33743886C>ACA503770435ASXL3c.4041C>A (p.Ile1347=)
c.4038C>A (p.Ile1346=)
c.3918C>A (p.Ile1306=)
c.4014C>A (p.Ile1338=)
c.3960C>A (p.Ile1320=)
c.3921C>A (p.Ile1307=)
c.3870C>A (p.Ile1290=)
c.1002C>A (p.Ile334=)
 gnomAD v4
18g.33743886C=CA2294857888ASXL3c.4041C= (p.Ile1347=)
c.4038C= (p.Ile1346=)
c.3918C= (p.Ile1306=)
c.4014C= (p.Ile1338=)
c.3960C= (p.Ile1320=)
c.3921C= (p.Ile1307=)
c.3870C= (p.Ile1290=)
c.1002C= (p.Ile334=)
18g.33743886C>GCA402189654ASXL3c.4041C>G (p.Ile1347Met)
c.4038C>G (p.Ile1346Met)
c.3918C>G (p.Ile1306Met)
c.4014C>G (p.Ile1338Met)
c.3960C>G (p.Ile1320Met)
c.3921C>G (p.Ile1307Met)
c.3870C>G (p.Ile1290Met)
c.1002C>G (p.Ile334Met)
18g.33743886C>TCA8934163ASXL3c.4041C>T (p.Ile1347=)
c.4038C>T (p.Ile1346=)
c.3918C>T (p.Ile1306=)
c.4014C>T (p.Ile1338=)
c.3960C>T (p.Ile1320=)
c.3921C>T (p.Ile1307=)
c.3870C>T (p.Ile1290=)
c.1002C>T (p.Ile334=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>ACA297793313ASXL3c.4042G>A (p.Gly1348Arg)
c.4039G>A (p.Gly1347Arg)
c.3919G>A (p.Gly1307Arg)
c.4015G>A (p.Gly1339Arg)
c.3961G>A (p.Gly1321Arg)
c.3922G>A (p.Gly1308Arg)
c.3871G>A (p.Gly1291Arg)
c.1003G>A (p.Gly335Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743887G>CCA402189664ASXL3c.4042G>C (p.Gly1348Arg)
c.4039G>C (p.Gly1347Arg)
c.3919G>C (p.Gly1307Arg)
c.4015G>C (p.Gly1339Arg)
c.3961G>C (p.Gly1321Arg)
c.3922G>C (p.Gly1308Arg)
c.3871G>C (p.Gly1291Arg)
c.1003G>C (p.Gly335Arg)
18g.33743887G=CA2294857889ASXL3c.4042G= (p.Gly1348=)
c.4039G= (p.Gly1347=)
c.3919G= (p.Gly1307=)
c.4015G= (p.Gly1339=)
c.3961G= (p.Gly1321=)
c.3922G= (p.Gly1308=)
c.3871G= (p.Gly1291=)
c.1003G= (p.Gly335=)
18g.33743887G>TCA402189668ASXL3c.4042G>T (p.Gly1348Ter)
c.4039G>T (p.Gly1347Ter)
c.3919G>T (p.Gly1307Ter)
c.4015G>T (p.Gly1339Ter)
c.3961G>T (p.Gly1321Ter)
c.3922G>T (p.Gly1308Ter)
c.3871G>T (p.Gly1291Ter)
c.1003G>T (p.Gly335Ter)
18g.33743888G>ACA402189677ASXL3c.4043G>A (p.Gly1348Glu)
c.4040G>A (p.Gly1347Glu)
c.3920G>A (p.Gly1307Glu)
c.4016G>A (p.Gly1339Glu)
c.3962G>A (p.Gly1321Glu)
c.3923G>A (p.Gly1308Glu)
c.3872G>A (p.Gly1291Glu)
c.1004G>A (p.Gly335Glu)
 dbSNP
18g.33743888G>CCA402189673ASXL3c.4043G>C (p.Gly1348Ala)
c.4040G>C (p.Gly1347Ala)
c.3920G>C (p.Gly1307Ala)
c.4016G>C (p.Gly1339Ala)
c.3962G>C (p.Gly1321Ala)
c.3923G>C (p.Gly1308Ala)
c.3872G>C (p.Gly1291Ala)
c.1004G>C (p.Gly335Ala)
18g.33743888G>TCA402189675ASXL3c.4043G>T (p.Gly1348Val)
c.4040G>T (p.Gly1347Val)
c.3920G>T (p.Gly1307Val)
c.4016G>T (p.Gly1339Val)
c.3962G>T (p.Gly1321Val)
c.3923G>T (p.Gly1308Val)
c.3872G>T (p.Gly1291Val)
c.1004G>T (p.Gly335Val)
18g.33743889A=CA2294857890ASXL3c.4044A= (p.Gly1348=)
c.4041A= (p.Gly1347=)
c.3921A= (p.Gly1307=)
c.4017A= (p.Gly1339=)
c.3963A= (p.Gly1321=)
c.3924A= (p.Gly1308=)
c.3873A= (p.Gly1291=)
c.1005A= (p.Gly335=)
18g.33743889A>CCA503770451ASXL3c.4044A>C (p.Gly1348=)
c.4041A>C (p.Gly1347=)
c.3921A>C (p.Gly1307=)
c.4017A>C (p.Gly1339=)
c.3963A>C (p.Gly1321=)
c.3924A>C (p.Gly1308=)
c.3873A>C (p.Gly1291=)
c.1005A>C (p.Gly335=)
18g.33743889A>GCA503770453ASXL3c.4044A>G (p.Gly1348=)
c.4041A>G (p.Gly1347=)
c.3921A>G (p.Gly1307=)
c.4017A>G (p.Gly1339=)
c.3963A>G (p.Gly1321=)
c.3924A>G (p.Gly1308=)
c.3873A>G (p.Gly1291=)
c.1005A>G (p.Gly335=)
18g.33743889A>TCA503770454ASXL3c.4044A>T (p.Gly1348=)
c.4041A>T (p.Gly1347=)
c.3921A>T (p.Gly1307=)
c.4017A>T (p.Gly1339=)
c.3963A>T (p.Gly1321=)
c.3924A>T (p.Gly1308=)
c.3873A>T (p.Gly1291=)
c.1005A>T (p.Gly335=)
 dbSNP
18g.33743890A>CCA402189681ASXL3c.4045A>C (p.Asn1349His)
c.4042A>C (p.Asn1348His)
c.3922A>C (p.Asn1308His)
c.4018A>C (p.Asn1340His)
c.3964A>C (p.Asn1322His)
c.3925A>C (p.Asn1309His)
c.3874A>C (p.Asn1292His)
c.1006A>C (p.Asn336His)
18g.33743890A>GCA402189693ASXL3c.4045A>G (p.Asn1349Asp)
c.4042A>G (p.Asn1348Asp)
c.3922A>G (p.Asn1308Asp)
c.4018A>G (p.Asn1340Asp)
c.3964A>G (p.Asn1322Asp)
c.3925A>G (p.Asn1309Asp)
c.3874A>G (p.Asn1292Asp)
c.1006A>G (p.Asn336Asp)
18g.33743890A>TCA402189697ASXL3c.4045A>T (p.Asn1349Tyr)
c.4042A>T (p.Asn1348Tyr)
c.3922A>T (p.Asn1308Tyr)
c.4018A>T (p.Asn1340Tyr)
c.3964A>T (p.Asn1322Tyr)
c.3925A>T (p.Asn1309Tyr)
c.3874A>T (p.Asn1292Tyr)
c.1006A>T (p.Asn336Tyr)
18g.33743891A>CCA402189702ASXL3c.4046A>C (p.Asn1349Thr)
c.4043A>C (p.Asn1348Thr)
c.3923A>C (p.Asn1308Thr)
c.4019A>C (p.Asn1340Thr)
c.3965A>C (p.Asn1322Thr)
c.3926A>C (p.Asn1309Thr)
c.3875A>C (p.Asn1292Thr)
c.1007A>C (p.Asn336Thr)
18g.33743891A>GCA402189705ASXL3c.4046A>G (p.Asn1349Ser)
c.4043A>G (p.Asn1348Ser)
c.3923A>G (p.Asn1308Ser)
c.4019A>G (p.Asn1340Ser)
c.3965A>G (p.Asn1322Ser)
c.3926A>G (p.Asn1309Ser)
c.3875A>G (p.Asn1292Ser)
c.1007A>G (p.Asn336Ser)
 gnomAD v4
18g.33743891A>TCA402189708ASXL3c.4046A>T (p.Asn1349Ile)
c.4043A>T (p.Asn1348Ile)
c.3923A>T (p.Asn1308Ile)
c.4019A>T (p.Asn1340Ile)
c.3965A>T (p.Asn1322Ile)
c.3926A>T (p.Asn1309Ile)
c.3875A>T (p.Asn1292Ile)
c.1007A>T (p.Asn336Ile)
18g.33743892_33743893delCA913015111ASXL3c.4047_4048del (p.Asn1349LysfsTer8)
c.4044_4045del (p.Asn1348LysfsTer8)
c.3924_3925del (p.Asn1308LysfsTer8)
c.4020_4021del (p.Asn1340LysfsTer8)
c.3966_3967del (p.Asn1322LysfsTer8)
c.3927_3928del (p.Asn1309LysfsTer8)
c.3876_3877del (p.Asn1292LysfsTer8)
c.1008_1009del (p.Asn336LysfsTer8)
18g.33743892C>ACA402189714ASXL3c.4047C>A (p.Asn1349Lys)
c.4044C>A (p.Asn1348Lys)
c.3924C>A (p.Asn1308Lys)
c.4020C>A (p.Asn1340Lys)
c.3966C>A (p.Asn1322Lys)
c.3927C>A (p.Asn1309Lys)
c.3876C>A (p.Asn1292Lys)
c.1008C>A (p.Asn336Lys)
18g.33743892C>GCA402189711ASXL3c.4047C>G (p.Asn1349Lys)
c.4044C>G (p.Asn1348Lys)
c.3924C>G (p.Asn1308Lys)
c.4020C>G (p.Asn1340Lys)
c.3966C>G (p.Asn1322Lys)
c.3927C>G (p.Asn1309Lys)
c.3876C>G (p.Asn1292Lys)
c.1008C>G (p.Asn336Lys)
18g.33743892C>TCA503770465ASXL3c.4047C>T (p.Asn1349=)
c.4044C>T (p.Asn1348=)
c.3924C>T (p.Asn1308=)
c.4020C>T (p.Asn1340=)
c.3966C>T (p.Asn1322=)
c.3927C>T (p.Asn1309=)
c.3876C>T (p.Asn1292=)
c.1008C>T (p.Asn336=)
18g.33743893A>CCA402189719ASXL3c.4048A>C (p.Asn1350His)
c.4045A>C (p.Asn1349His)
c.3925A>C (p.Asn1309His)
c.4021A>C (p.Asn1341His)
c.3967A>C (p.Asn1323His)
c.3928A>C (p.Asn1310His)
c.3877A>C (p.Asn1293His)
c.1009A>C (p.Asn337His)
18g.33743893A>GCA402189724ASXL3c.4048A>G (p.Asn1350Asp)
c.4045A>G (p.Asn1349Asp)
c.3925A>G (p.Asn1309Asp)
c.4021A>G (p.Asn1341Asp)
c.3967A>G (p.Asn1323Asp)
c.3928A>G (p.Asn1310Asp)
c.3877A>G (p.Asn1293Asp)
c.1009A>G (p.Asn337Asp)
18g.33743893A>TCA402189722ASXL3c.4048A>T (p.Asn1350Tyr)
c.4045A>T (p.Asn1349Tyr)
c.3925A>T (p.Asn1309Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3967A>T (p.Asn1323Tyr)
c.3928A>T (p.Asn1310Tyr)
c.3877A>T (p.Asn1293Tyr)
c.1009A>T (p.Asn337Tyr)
18g.33743894A>CCA402189728ASXL3c.4049A>C (p.Asn1350Thr)
c.4046A>C (p.Asn1349Thr)
c.3926A>C (p.Asn1309Thr)
c.4022A>C (p.Asn1341Thr)
c.3968A>C (p.Asn1323Thr)
c.3929A>C (p.Asn1310Thr)
c.3878A>C (p.Asn1293Thr)
c.1010A>C (p.Asn337Thr)
 gnomAD v4
18g.33743894A>GCA402189730ASXL3c.4049A>G (p.Asn1350Ser)
c.4046A>G (p.Asn1349Ser)
c.3926A>G (p.Asn1309Ser)
c.4022A>G (p.Asn1341Ser)
c.3968A>G (p.Asn1323Ser)
c.3929A>G (p.Asn1310Ser)
c.3878A>G (p.Asn1293Ser)
c.1010A>G (p.Asn337Ser)
 gnomAD v4
18g.33743894A>TCA402189731ASXL3c.4049A>T (p.Asn1350Ile)
c.4046A>T (p.Asn1349Ile)
c.3926A>T (p.Asn1309Ile)
c.4022A>T (p.Asn1341Ile)
c.3968A>T (p.Asn1323Ile)
c.3929A>T (p.Asn1310Ile)
c.3878A>T (p.Asn1293Ile)
c.1010A>T (p.Asn337Ile)
18g.33743895T>ACA402189735ASXL3c.4050T>A (p.Asn1350Lys)
c.4047T>A (p.Asn1349Lys)
c.3927T>A (p.Asn1309Lys)
c.4023T>A (p.Asn1341Lys)
c.3969T>A (p.Asn1323Lys)
c.3930T>A (p.Asn1310Lys)
c.3879T>A (p.Asn1293Lys)
c.1011T>A (p.Asn337Lys)
18g.33743895T>CCA503770480ASXL3c.4050T>C (p.Asn1350=)
c.4047T>C (p.Asn1349=)
c.3927T>C (p.Asn1309=)
c.4023T>C (p.Asn1341=)
c.3969T>C (p.Asn1323=)
c.3930T>C (p.Asn1310=)
c.3879T>C (p.Asn1293=)
c.1011T>C (p.Asn337=)
 dbSNP gnomAD v3 gnomAD v4
18g.33743895T>GCA402189738ASXL3c.4050T>G (p.Asn1350Lys)
c.4047T>G (p.Asn1349Lys)
c.3927T>G (p.Asn1309Lys)
c.4023T>G (p.Asn1341Lys)
c.3969T>G (p.Asn1323Lys)
c.3930T>G (p.Asn1310Lys)
c.3879T>G (p.Asn1293Lys)
c.1011T>G (p.Asn337Lys)
18g.33743895T=CA2294857891ASXL3c.4050T= (p.Asn1350=)
c.4047T= (p.Asn1349=)
c.3927T= (p.Asn1309=)
c.4023T= (p.Asn1341=)
c.3969T= (p.Asn1323=)
c.3930T= (p.Asn1310=)
c.3879T= (p.Asn1293=)
c.1011T= (p.Asn337=)
18g.33743896T>ACA402189743ASXL3c.4051T>A (p.Leu1351Met)
c.4048T>A (p.Leu1350Met)
c.3928T>A (p.Leu1310Met)
c.4024T>A (p.Leu1342Met)
c.3970T>A (p.Leu1324Met)
c.3931T>A (p.Leu1311Met)
c.3880T>A (p.Leu1294Met)
c.1012T>A (p.Leu338Met)
18g.33743896T>CCA503770485ASXL3c.4051T>C (p.Leu1351=)
c.4048T>C (p.Leu1350=)
c.3928T>C (p.Leu1310=)
c.4024T>C (p.Leu1342=)
c.3970T>C (p.Leu1324=)
c.3931T>C (p.Leu1311=)
c.3880T>C (p.Leu1294=)
c.1012T>C (p.Leu338=)
18g.33743896T>GCA402189745ASXL3c.4051T>G (p.Leu1351Val)
c.4048T>G (p.Leu1350Val)
c.3928T>G (p.Leu1310Val)
c.4024T>G (p.Leu1342Val)
c.3970T>G (p.Leu1324Val)
c.3931T>G (p.Leu1311Val)
c.3880T>G (p.Leu1294Val)
c.1012T>G (p.Leu338Val)
18g.33743897T>ACA402189750ASXL3c.4052T>A (p.Leu1351Ter)
c.4049T>A (p.Leu1350Ter)
c.3929T>A (p.Leu1310Ter)
c.4025T>A (p.Leu1342Ter)
c.3971T>A (p.Leu1324Ter)
c.3932T>A (p.Leu1311Ter)
c.3881T>A (p.Leu1294Ter)
c.1013T>A (p.Leu338Ter)
18g.33743897T>CCA402189753ASXL3c.4052T>C (p.Leu1351Ser)
c.4049T>C (p.Leu1350Ser)
c.3929T>C (p.Leu1310Ser)
c.4025T>C (p.Leu1342Ser)
c.3971T>C (p.Leu1324Ser)
c.3932T>C (p.Leu1311Ser)
c.3881T>C (p.Leu1294Ser)
c.1013T>C (p.Leu338Ser)
18g.33743897T>GCA402189755ASXL3c.4052T>G (p.Leu1351Trp)
c.4049T>G (p.Leu1350Trp)
c.3929T>G (p.Leu1310Trp)
c.4025T>G (p.Leu1342Trp)
c.3971T>G (p.Leu1324Trp)
c.3932T>G (p.Leu1311Trp)
c.3881T>G (p.Leu1294Trp)
c.1013T>G (p.Leu338Trp)
18g.33743898G>ACA503770491ASXL3c.4053G>A (p.Leu1351=)
c.4050G>A (p.Leu1350=)
c.3930G>A (p.Leu1310=)
c.4026G>A (p.Leu1342=)
c.3972G>A (p.Leu1324=)
c.3933G>A (p.Leu1311=)
c.3882G>A (p.Leu1294=)
c.1014G>A (p.Leu338=)
18g.33743898G>CCA402189766ASXL3c.4053G>C (p.Leu1351Phe)
c.4050G>C (p.Leu1350Phe)
c.3930G>C (p.Leu1310Phe)
c.4026G>C (p.Leu1342Phe)
c.3972G>C (p.Leu1324Phe)
c.3933G>C (p.Leu1311Phe)
c.3882G>C (p.Leu1294Phe)
c.1014G>C (p.Leu338Phe)
18g.33743898G>TCA402189769ASXL3c.4053G>T (p.Leu1351Phe)
c.4050G>T (p.Leu1350Phe)
c.3930G>T (p.Leu1310Phe)
c.4026G>T (p.Leu1342Phe)
c.3972G>T (p.Leu1324Phe)
c.3933G>T (p.Leu1311Phe)
c.3882G>T (p.Leu1294Phe)
c.1014G>T (p.Leu338Phe)
18g.33743899C>ACA402189779ASXL3c.4054C>A (p.Pro1352Thr)
c.4051C>A (p.Pro1351Thr)
c.3931C>A (p.Pro1311Thr)
c.4027C>A (p.Pro1343Thr)
c.3973C>A (p.Pro1325Thr)
c.3934C>A (p.Pro1312Thr)
c.3883C>A (p.Pro1295Thr)
c.1015C>A (p.Pro339Thr)
18g.33743899C>GCA402189775ASXL3c.4054C>G (p.Pro1352Ala)
c.4051C>G (p.Pro1351Ala)
c.3931C>G (p.Pro1311Ala)
c.4027C>G (p.Pro1343Ala)
c.3973C>G (p.Pro1325Ala)
c.3934C>G (p.Pro1312Ala)
c.3883C>G (p.Pro1295Ala)
c.1015C>G (p.Pro339Ala)
18g.33743899C>TCA402189777ASXL3c.4054C>T (p.Pro1352Ser)
c.4051C>T (p.Pro1351Ser)
c.3931C>T (p.Pro1311Ser)
c.4027C>T (p.Pro1343Ser)
c.3973C>T (p.Pro1325Ser)
c.3934C>T (p.Pro1312Ser)
c.3883C>T (p.Pro1295Ser)
c.1015C>T (p.Pro339Ser)
18g.33743900C>ACA402189782ASXL3c.4055C>A (p.Pro1352Gln)
c.4052C>A (p.Pro1351Gln)
c.3932C>A (p.Pro1311Gln)
c.4028C>A (p.Pro1343Gln)
c.3974C>A (p.Pro1325Gln)
c.3935C>A (p.Pro1312Gln)
c.3884C>A (p.Pro1295Gln)
c.1016C>A (p.Pro339Gln)
 COSMIC
18g.33743900C>GCA402189783ASXL3c.4055C>G (p.Pro1352Arg)
c.4052C>G (p.Pro1351Arg)
c.3932C>G (p.Pro1311Arg)
c.4028C>G (p.Pro1343Arg)
c.3974C>G (p.Pro1325Arg)
c.3935C>G (p.Pro1312Arg)
c.3884C>G (p.Pro1295Arg)
c.1016C>G (p.Pro339Arg)
18g.33743900C>TCA402189784ASXL3c.4055C>T (p.Pro1352Leu)
c.4052C>T (p.Pro1351Leu)
c.3932C>T (p.Pro1311Leu)
c.4028C>T (p.Pro1343Leu)
c.3974C>T (p.Pro1325Leu)
c.3935C>T (p.Pro1312Leu)
c.3884C>T (p.Pro1295Leu)
c.1016C>T (p.Pro339Leu)
 gnomAD v3 gnomAD v4
18g.33743901A>CCA503770501ASXL3c.4056A>C (p.Pro1352=)
c.4053A>C (p.Pro1351=)
c.3933A>C (p.Pro1311=)
c.4029A>C (p.Pro1343=)
c.3975A>C (p.Pro1325=)
c.3936A>C (p.Pro1312=)
c.3885A>C (p.Pro1295=)
c.1017A>C (p.Pro339=)
18g.33743901A>GCA503770502ASXL3c.4056A>G (p.Pro1352=)
c.4053A>G (p.Pro1351=)
c.3933A>G (p.Pro1311=)
c.4029A>G (p.Pro1343=)
c.3975A>G (p.Pro1325=)
c.3936A>G (p.Pro1312=)
c.3885A>G (p.Pro1295=)
c.1017A>G (p.Pro339=)
18g.33743901A>TCA503770504ASXL3c.4056A>T (p.Pro1352=)
c.4053A>T (p.Pro1351=)
c.3933A>T (p.Pro1311=)
c.4029A>T (p.Pro1343=)
c.3975A>T (p.Pro1325=)
c.3936A>T (p.Pro1312=)
c.3885A>T (p.Pro1295=)
c.1017A>T (p.Pro339=)
18g.33743902A=CA2294857892ASXL3c.4057A= (p.Asn1353=)
c.4054A= (p.Asn1352=)
c.3934A= (p.Asn1312=)
c.4030A= (p.Asn1344=)
c.3976A= (p.Asn1326=)
c.3937A= (p.Asn1313=)
c.3886A= (p.Asn1296=)
c.1018A= (p.Asn340=)
18g.33743902A>CCA402189786ASXL3c.4057A>C (p.Asn1353His)
c.4054A>C (p.Asn1352His)
c.3934A>C (p.Asn1312His)
c.4030A>C (p.Asn1344His)
c.3976A>C (p.Asn1326His)
c.3937A>C (p.Asn1313His)
c.3886A>C (p.Asn1296His)
c.1018A>C (p.Asn340His)
 gnomAD v4
18g.33743902A>GCA8934164ASXL3c.4057A>G (p.Asn1353Asp)
c.4054A>G (p.Asn1352Asp)
c.3934A>G (p.Asn1312Asp)
c.4030A>G (p.Asn1344Asp)
c.3976A>G (p.Asn1326Asp)
c.3937A>G (p.Asn1313Asp)
c.3886A>G (p.Asn1296Asp)
c.1018A>G (p.Asn340Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743902A>TCA402189791ASXL3c.4057A>T (p.Asn1353Tyr)
c.4054A>T (p.Asn1352Tyr)
c.3934A>T (p.Asn1312Tyr)
c.4030A>T (p.Asn1344Tyr)
c.3976A>T (p.Asn1326Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3886A>T (p.Asn1296Tyr)
c.1018A>T (p.Asn340Tyr)
18g.33743903A>CCA402189795ASXL3c.4058A>C (p.Asn1353Thr)
c.4055A>C (p.Asn1352Thr)
c.3935A>C (p.Asn1312Thr)
c.4031A>C (p.Asn1344Thr)
c.3977A>C (p.Asn1326Thr)
c.3938A>C (p.Asn1313Thr)
c.3887A>C (p.Asn1296Thr)
c.1019A>C (p.Asn340Thr)
18g.33743903A>GCA402189799ASXL3c.4058A>G (p.Asn1353Ser)
c.4055A>G (p.Asn1352Ser)
c.3935A>G (p.Asn1312Ser)
c.4031A>G (p.Asn1344Ser)
c.3977A>G (p.Asn1326Ser)
c.3938A>G (p.Asn1313Ser)
c.3887A>G (p.Asn1296Ser)
c.1019A>G (p.Asn340Ser)
18g.33743903A>TCA402189801ASXL3c.4058A>T (p.Asn1353Ile)
c.4055A>T (p.Asn1352Ile)
c.3935A>T (p.Asn1312Ile)
c.4031A>T (p.Asn1344Ile)
c.3977A>T (p.Asn1326Ile)
c.3938A>T (p.Asn1313Ile)
c.3887A>T (p.Asn1296Ile)
c.1019A>T (p.Asn340Ile)
18g.33743904C>ACA402189804ASXL3c.4059C>A (p.Asn1353Lys)
c.4056C>A (p.Asn1352Lys)
c.3936C>A (p.Asn1312Lys)
c.4032C>A (p.Asn1344Lys)
c.3978C>A (p.Asn1326Lys)
c.3939C>A (p.Asn1313Lys)
c.3888C>A (p.Asn1296Lys)
c.1020C>A (p.Asn340Lys)
18g.33743904C=CA2294857893ASXL3c.4059C= (p.Asn1353=)
c.4056C= (p.Asn1352=)
c.3936C= (p.Asn1312=)
c.4032C= (p.Asn1344=)
c.3978C= (p.Asn1326=)
c.3939C= (p.Asn1313=)
c.3888C= (p.Asn1296=)
c.1020C= (p.Asn340=)
18g.33743904C>GCA402189806ASXL3c.4059C>G (p.Asn1353Lys)
c.4056C>G (p.Asn1352Lys)
c.3936C>G (p.Asn1312Lys)
c.4032C>G (p.Asn1344Lys)
c.3978C>G (p.Asn1326Lys)
c.3939C>G (p.Asn1313Lys)
c.3888C>G (p.Asn1296Lys)
c.1020C>G (p.Asn340Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.33743904C>TCA503770510ASXL3c.4059C>T (p.Asn1353=)
c.4056C>T (p.Asn1352=)
c.3936C>T (p.Asn1312=)
c.4032C>T (p.Asn1344=)
c.3978C>T (p.Asn1326=)
c.3939C>T (p.Asn1313=)
c.3888C>T (p.Asn1296=)
c.1020C>T (p.Asn340=)
 gnomAD v4
18g.33743905C>ACA402189811ASXL3c.4060C>A (p.Leu1354Ile)
c.4057C>A (p.Leu1353Ile)
c.3937C>A (p.Leu1313Ile)
c.4033C>A (p.Leu1345Ile)
c.3979C>A (p.Leu1327Ile)
c.3940C>A (p.Leu1314Ile)
c.3889C>A (p.Leu1297Ile)
c.1021C>A (p.Leu341Ile)
18g.33743905C=CA2294857894ASXL3c.4060C= (p.Leu1354=)
c.4057C= (p.Leu1353=)
c.3937C= (p.Leu1313=)
c.4033C= (p.Leu1345=)
c.3979C= (p.Leu1327=)
c.3940C= (p.Leu1314=)
c.3889C= (p.Leu1297=)
c.1021C= (p.Leu341=)
18g.33743905C>GCA402189813ASXL3c.4060C>G (p.Leu1354Val)
c.4057C>G (p.Leu1353Val)
c.3937C>G (p.Leu1313Val)
c.4033C>G (p.Leu1345Val)
c.3979C>G (p.Leu1327Val)
c.3940C>G (p.Leu1314Val)
c.3889C>G (p.Leu1297Val)
c.1021C>G (p.Leu341Val)
18g.33743905C>TCA8934165ASXL3c.4060C>T (p.Leu1354Phe)
c.4057C>T (p.Leu1353Phe)
c.3937C>T (p.Leu1313Phe)
c.4033C>T (p.Leu1345Phe)
c.3979C>T (p.Leu1327Phe)
c.3940C>T (p.Leu1314Phe)
c.3889C>T (p.Leu1297Phe)
c.1021C>T (p.Leu341Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743906T>ACA402189816ASXL3c.4061T>A (p.Leu1354His)
c.4058T>A (p.Leu1353His)
c.3938T>A (p.Leu1313His)
c.4034T>A (p.Leu1345His)
c.3980T>A (p.Leu1327His)
c.3941T>A (p.Leu1314His)
c.3890T>A (p.Leu1297His)
c.1022T>A (p.Leu341His)
18g.33743906T>CCA402189818ASXL3c.4061T>C (p.Leu1354Pro)
c.4058T>C (p.Leu1353Pro)
c.3938T>C (p.Leu1313Pro)
c.4034T>C (p.Leu1345Pro)
c.3980T>C (p.Leu1327Pro)
c.3941T>C (p.Leu1314Pro)
c.3890T>C (p.Leu1297Pro)
c.1022T>C (p.Leu341Pro)
18g.33743906T>GCA402189819ASXL3c.4061T>G (p.Leu1354Arg)
c.4058T>G (p.Leu1353Arg)
c.3938T>G (p.Leu1313Arg)
c.4034T>G (p.Leu1345Arg)
c.3980T>G (p.Leu1327Arg)
c.3941T>G (p.Leu1314Arg)
c.3890T>G (p.Leu1297Arg)
c.1022T>G (p.Leu341Arg)
18g.33743907C>ACA503770515ASXL3c.4062C>A (p.Leu1354=)
c.4059C>A (p.Leu1353=)
c.3939C>A (p.Leu1313=)
c.4035C>A (p.Leu1345=)
c.3981C>A (p.Leu1327=)
c.3942C>A (p.Leu1314=)
c.3891C>A (p.Leu1297=)
c.1023C>A (p.Leu341=)
 gnomAD v4
18g.33743907C>GCA503770518ASXL3c.4062C>G (p.Leu1354=)
c.4059C>G (p.Leu1353=)
c.3939C>G (p.Leu1313=)
c.4035C>G (p.Leu1345=)
c.3981C>G (p.Leu1327=)
c.3942C>G (p.Leu1314=)
c.3891C>G (p.Leu1297=)
c.1023C>G (p.Leu341=)
18g.33743907C>TCA503770519ASXL3c.4062C>T (p.Leu1354=)
c.4059C>T (p.Leu1353=)
c.3939C>T (p.Leu1313=)
c.4035C>T (p.Leu1345=)
c.3981C>T (p.Leu1327=)
c.3942C>T (p.Leu1314=)
c.3891C>T (p.Leu1297=)
c.1023C>T (p.Leu341=)
 COSMIC
18g.33743908T>ACA402189821ASXL3c.4063T>A (p.Ser1355Thr)
c.4060T>A (p.Ser1354Thr)
c.3940T>A (p.Ser1314Thr)
c.4036T>A (p.Ser1346Thr)
c.3982T>A (p.Ser1328Thr)
c.3943T>A (p.Ser1315Thr)
c.3892T>A (p.Ser1298Thr)
c.1024T>A (p.Ser342Thr)
18g.33743908T>CCA297793319ASXL3c.4063T>C (p.Ser1355Pro)
c.4060T>C (p.Ser1354Pro)
c.3940T>C (p.Ser1314Pro)
c.4036T>C (p.Ser1346Pro)
c.3982T>C (p.Ser1328Pro)
c.3943T>C (p.Ser1315Pro)
c.3892T>C (p.Ser1298Pro)
c.1024T>C (p.Ser342Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743908T>GCA402189825ASXL3c.4063T>G (p.Ser1355Ala)
c.4060T>G (p.Ser1354Ala)
c.3940T>G (p.Ser1314Ala)
c.4036T>G (p.Ser1346Ala)
c.3982T>G (p.Ser1328Ala)
c.3943T>G (p.Ser1315Ala)
c.3892T>G (p.Ser1298Ala)
c.1024T>G (p.Ser342Ala)
18g.33743908T=CA2294857895ASXL3c.4063T= (p.Ser1355=)
c.4060T= (p.Ser1354=)
c.3940T= (p.Ser1314=)
c.4036T= (p.Ser1346=)
c.3982T= (p.Ser1328=)
c.3943T= (p.Ser1315=)
c.3892T= (p.Ser1298=)
c.1024T= (p.Ser342=)
18g.33743909C>ACA402189827ASXL3c.4064C>A (p.Ser1355Tyr)
c.4061C>A (p.Ser1354Tyr)
c.3941C>A (p.Ser1314Tyr)
c.4037C>A (p.Ser1346Tyr)
c.3983C>A (p.Ser1328Tyr)
c.3944C>A (p.Ser1315Tyr)
c.3893C>A (p.Ser1298Tyr)
c.1025C>A (p.Ser342Tyr)
 COSMIC
18g.33743909C=CA2294857896ASXL3c.4064C= (p.Ser1355=)
c.4061C= (p.Ser1354=)
c.3941C= (p.Ser1314=)
c.4037C= (p.Ser1346=)
c.3983C= (p.Ser1328=)
c.3944C= (p.Ser1315=)
c.3893C= (p.Ser1298=)
c.1025C= (p.Ser342=)
18g.33743909C>GCA297793323ASXL3c.4064C>G (p.Ser1355Cys)
c.4061C>G (p.Ser1354Cys)
c.3941C>G (p.Ser1314Cys)
c.4037C>G (p.Ser1346Cys)
c.3983C>G (p.Ser1328Cys)
c.3944C>G (p.Ser1315Cys)
c.3893C>G (p.Ser1298Cys)
c.1025C>G (p.Ser342Cys)
 dbSNP
18g.33743909C>TCA402189832ASXL3c.4064C>T (p.Ser1355Phe)
c.4061C>T (p.Ser1354Phe)
c.3941C>T (p.Ser1314Phe)
c.4037C>T (p.Ser1346Phe)
c.3983C>T (p.Ser1328Phe)
c.3944C>T (p.Ser1315Phe)
c.3893C>T (p.Ser1298Phe)
c.1025C>T (p.Ser342Phe)
 gnomAD v4
18g.33743910C>ACA503770523ASXL3c.4065C>A (p.Ser1355=)
c.4062C>A (p.Ser1354=)
c.3942C>A (p.Ser1314=)
c.4038C>A (p.Ser1346=)
c.3984C>A (p.Ser1328=)
c.3945C>A (p.Ser1315=)
c.3894C>A (p.Ser1298=)
c.1026C>A (p.Ser342=)
18g.33743910C>GCA503770529ASXL3c.4065C>G (p.Ser1355=)
c.4062C>G (p.Ser1354=)
c.3942C>G (p.Ser1314=)
c.4038C>G (p.Ser1346=)
c.3984C>G (p.Ser1328=)
c.3945C>G (p.Ser1315=)
c.3894C>G (p.Ser1298=)
c.1026C>G (p.Ser342=)
18g.33743910C>TCA503770526ASXL3c.4065C>T (p.Ser1355=)
c.4062C>T (p.Ser1354=)
c.3942C>T (p.Ser1314=)
c.4038C>T (p.Ser1346=)
c.3984C>T (p.Ser1328=)
c.3945C>T (p.Ser1315=)
c.3894C>T (p.Ser1298=)
c.1026C>T (p.Ser342=)
18g.33743911A>CCA402189834ASXL3c.4066A>C (p.Thr1356Pro)
c.4063A>C (p.Thr1355Pro)
c.3943A>C (p.Thr1315Pro)
c.4039A>C (p.Thr1347Pro)
c.3985A>C (p.Thr1329Pro)
c.3946A>C (p.Thr1316Pro)
c.3895A>C (p.Thr1299Pro)
c.1027A>C (p.Thr343Pro)
18g.33743911A>GCA402189836ASXL3c.4066A>G (p.Thr1356Ala)
c.4063A>G (p.Thr1355Ala)
c.3943A>G (p.Thr1315Ala)
c.4039A>G (p.Thr1347Ala)
c.3985A>G (p.Thr1329Ala)
c.3946A>G (p.Thr1316Ala)
c.3895A>G (p.Thr1299Ala)
c.1027A>G (p.Thr343Ala)
18g.33743911A>TCA402189838ASXL3c.4066A>T (p.Thr1356Ser)
c.4063A>T (p.Thr1355Ser)
c.3943A>T (p.Thr1315Ser)
c.4039A>T (p.Thr1347Ser)
c.3985A>T (p.Thr1329Ser)
c.3946A>T (p.Thr1316Ser)
c.3895A>T (p.Thr1299Ser)
c.1027A>T (p.Thr343Ser)
 COSMIC
18g.33743912C>ACA402189842ASXL3c.4067C>A (p.Thr1356Asn)
c.4064C>A (p.Thr1355Asn)
c.3944C>A (p.Thr1315Asn)
c.4040C>A (p.Thr1347Asn)
c.3986C>A (p.Thr1329Asn)
c.3947C>A (p.Thr1316Asn)
c.3896C>A (p.Thr1299Asn)
c.1028C>A (p.Thr343Asn)
18g.33743912C>GCA402189845ASXL3c.4067C>G (p.Thr1356Ser)
c.4064C>G (p.Thr1355Ser)
c.3944C>G (p.Thr1315Ser)
c.4040C>G (p.Thr1347Ser)
c.3986C>G (p.Thr1329Ser)
c.3947C>G (p.Thr1316Ser)
c.3896C>G (p.Thr1299Ser)
c.1028C>G (p.Thr343Ser)
18g.33743912C>TCA402189841ASXL3c.4067C>T (p.Thr1356Ile)
c.4064C>T (p.Thr1355Ile)
c.3944C>T (p.Thr1315Ile)
c.4040C>T (p.Thr1347Ile)
c.3986C>T (p.Thr1329Ile)
c.3947C>T (p.Thr1316Ile)
c.3896C>T (p.Thr1299Ile)
c.1028C>T (p.Thr343Ile)
18g.33743913T>ACA503770534ASXL3c.4068T>A (p.Thr1356=)
c.4065T>A (p.Thr1355=)
c.3945T>A (p.Thr1315=)
c.4041T>A (p.Thr1347=)
c.3987T>A (p.Thr1329=)
c.3948T>A (p.Thr1316=)
c.3897T>A (p.Thr1299=)
c.1029T>A (p.Thr343=)
18g.33743913T>CCA503770536ASXL3c.4068T>C (p.Thr1356=)
c.4065T>C (p.Thr1355=)
c.3945T>C (p.Thr1315=)
c.4041T>C (p.Thr1347=)
c.3987T>C (p.Thr1329=)
c.3948T>C (p.Thr1316=)
c.3897T>C (p.Thr1299=)
c.1029T>C (p.Thr343=)
 gnomAD v4 COSMIC
18g.33743913T>GCA503770541ASXL3c.4068T>G (p.Thr1356=)
c.4065T>G (p.Thr1355=)
c.3945T>G (p.Thr1315=)
c.4041T>G (p.Thr1347=)
c.3987T>G (p.Thr1329=)
c.3948T>G (p.Thr1316=)
c.3897T>G (p.Thr1299=)
c.1029T>G (p.Thr343=)
 gnomAD v4
18g.33743914A=CA2294857897ASXL3c.4069A= (p.Ser1357=)
c.4066A= (p.Ser1356=)
c.3946A= (p.Ser1316=)
c.4042A= (p.Ser1348=)
c.3988A= (p.Ser1330=)
c.3949A= (p.Ser1317=)
c.3898A= (p.Ser1300=)
c.1030A= (p.Ser344=)
18g.33743914A>CCA402189848ASXL3c.4069A>C (p.Ser1357Arg)
c.4066A>C (p.Ser1356Arg)
c.3946A>C (p.Ser1316Arg)
c.4042A>C (p.Ser1348Arg)
c.3988A>C (p.Ser1330Arg)
c.3949A>C (p.Ser1317Arg)
c.3898A>C (p.Ser1300Arg)
c.1030A>C (p.Ser344Arg)
18g.33743914A>GCA402189850ASXL3c.4069A>G (p.Ser1357Gly)
c.4066A>G (p.Ser1356Gly)
c.3946A>G (p.Ser1316Gly)
c.4042A>G (p.Ser1348Gly)
c.3988A>G (p.Ser1330Gly)
c.3949A>G (p.Ser1317Gly)
c.3898A>G (p.Ser1300Gly)
c.1030A>G (p.Ser344Gly)
 ClinVar dbSNP
18g.33743914A>TCA402189852ASXL3c.4069A>T (p.Ser1357Cys)
c.4066A>T (p.Ser1356Cys)
c.3946A>T (p.Ser1316Cys)
c.4042A>T (p.Ser1348Cys)
c.3988A>T (p.Ser1330Cys)
c.3949A>T (p.Ser1317Cys)
c.3898A>T (p.Ser1300Cys)
c.1030A>T (p.Ser344Cys)
18g.33743915G>ACA402189854ASXL3c.4070G>A (p.Ser1357Asn)
c.4067G>A (p.Ser1356Asn)
c.3947G>A (p.Ser1316Asn)
c.4043G>A (p.Ser1348Asn)
c.3989G>A (p.Ser1330Asn)
c.3950G>A (p.Ser1317Asn)
c.3899G>A (p.Ser1300Asn)
c.1031G>A (p.Ser344Asn)
18g.33743915G>CCA402189857ASXL3c.4070G>C (p.Ser1357Thr)
c.4067G>C (p.Ser1356Thr)
c.3947G>C (p.Ser1316Thr)
c.4043G>C (p.Ser1348Thr)
c.3989G>C (p.Ser1330Thr)
c.3950G>C (p.Ser1317Thr)
c.3899G>C (p.Ser1300Thr)
c.1031G>C (p.Ser344Thr)
18g.33743915G>TCA402189859ASXL3c.4070G>T (p.Ser1357Ile)
c.4067G>T (p.Ser1356Ile)
c.3947G>T (p.Ser1316Ile)
c.4043G>T (p.Ser1348Ile)
c.3989G>T (p.Ser1330Ile)
c.3950G>T (p.Ser1317Ile)
c.3899G>T (p.Ser1300Ile)
c.1031G>T (p.Ser344Ile)
18g.33743916C>ACA402189864ASXL3c.4071C>A (p.Ser1357Arg)
c.4068C>A (p.Ser1356Arg)
c.3948C>A (p.Ser1316Arg)
c.4044C>A (p.Ser1348Arg)
c.3990C>A (p.Ser1330Arg)
c.3951C>A (p.Ser1317Arg)
c.3900C>A (p.Ser1300Arg)
c.1032C>A (p.Ser344Arg)
18g.33743916C=CA2294857898ASXL3c.4071C= (p.Ser1357=)
c.4068C= (p.Ser1356=)
c.3948C= (p.Ser1316=)
c.4044C= (p.Ser1348=)
c.3990C= (p.Ser1330=)
c.3951C= (p.Ser1317=)
c.3900C= (p.Ser1300=)
c.1032C= (p.Ser344=)
18g.33743916C>GCA402189862ASXL3c.4071C>G (p.Ser1357Arg)
c.4068C>G (p.Ser1356Arg)
c.3948C>G (p.Ser1316Arg)
c.4044C>G (p.Ser1348Arg)
c.3990C>G (p.Ser1330Arg)
c.3951C>G (p.Ser1317Arg)
c.3900C>G (p.Ser1300Arg)
c.1032C>G (p.Ser344Arg)
18g.33743916C>TCA503770558ASXL3c.4071C>T (p.Ser1357=)
c.4068C>T (p.Ser1356=)
c.3948C>T (p.Ser1316=)
c.4044C>T (p.Ser1348=)
c.3990C>T (p.Ser1330=)
c.3951C>T (p.Ser1317=)
c.3900C>T (p.Ser1300=)
c.1032C>T (p.Ser344=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743918_33743919delCA2739291109ASXL3c.4073_4074del (p.Ser1358CysfsTer9)
c.4070_4071del (p.Ser1357CysfsTer9)
c.3950_3951del (p.Ser1317CysfsTer9)
c.4046_4047del (p.Ser1349CysfsTer9)
c.3992_3993del (p.Ser1331CysfsTer9)
c.3953_3954del (p.Ser1318CysfsTer9)
c.3902_3903del (p.Ser1301CysfsTer9)
c.1034_1035del (p.Ser345CysfsTer9)
18g.33743917T>ACA402189866ASXL3c.4072T>A (p.Ser1358Thr)
c.4069T>A (p.Ser1357Thr)
c.3949T>A (p.Ser1317Thr)
c.4045T>A (p.Ser1349Thr)
c.3991T>A (p.Ser1331Thr)
c.3952T>A (p.Ser1318Thr)
c.3901T>A (p.Ser1301Thr)
c.1033T>A (p.Ser345Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743917T>CCA402189868ASXL3c.4072T>C (p.Ser1358Pro)
c.4069T>C (p.Ser1357Pro)
c.3949T>C (p.Ser1317Pro)
c.4045T>C (p.Ser1349Pro)
c.3991T>C (p.Ser1331Pro)
c.3952T>C (p.Ser1318Pro)
c.3901T>C (p.Ser1301Pro)
c.1033T>C (p.Ser345Pro)
18g.33743917T>GCA402189869ASXL3c.4072T>G (p.Ser1358Ala)
c.4069T>G (p.Ser1357Ala)
c.3949T>G (p.Ser1317Ala)
c.4045T>G (p.Ser1349Ala)
c.3991T>G (p.Ser1331Ala)
c.3952T>G (p.Ser1318Ala)
c.3901T>G (p.Ser1301Ala)
c.1033T>G (p.Ser345Ala)
18g.33743917T=CA2294857899ASXL3c.4072T= (p.Ser1358=)
c.4069T= (p.Ser1357=)
c.3949T= (p.Ser1317=)
c.4045T= (p.Ser1349=)
c.3991T= (p.Ser1331=)
c.3952T= (p.Ser1318=)
c.3901T= (p.Ser1301=)
c.1033T= (p.Ser345=)
18g.33743918C>ACA402189872ASXL3c.4073C>A (p.Ser1358Tyr)
c.4070C>A (p.Ser1357Tyr)
c.3950C>A (p.Ser1317Tyr)
c.4046C>A (p.Ser1349Tyr)
c.3992C>A (p.Ser1331Tyr)
c.3953C>A (p.Ser1318Tyr)
c.3902C>A (p.Ser1301Tyr)
c.1034C>A (p.Ser345Tyr)
 COSMIC
18g.33743918C>GCA402189874ASXL3c.4073C>G (p.Ser1358Cys)
c.4070C>G (p.Ser1357Cys)
c.3950C>G (p.Ser1317Cys)
c.4046C>G (p.Ser1349Cys)
c.3992C>G (p.Ser1331Cys)
c.3953C>G (p.Ser1318Cys)
c.3902C>G (p.Ser1301Cys)
c.1034C>G (p.Ser345Cys)
18g.33743918C>TCA402189876ASXL3c.4073C>T (p.Ser1358Phe)
c.4070C>T (p.Ser1357Phe)
c.3950C>T (p.Ser1317Phe)
c.4046C>T (p.Ser1349Phe)
c.3992C>T (p.Ser1331Phe)
c.3953C>T (p.Ser1318Phe)
c.3902C>T (p.Ser1301Phe)
c.1034C>T (p.Ser345Phe)
18g.33743919T>ACA503770565ASXL3c.4074T>A (p.Ser1358=)
c.4071T>A (p.Ser1357=)
c.3951T>A (p.Ser1317=)
c.4047T>A (p.Ser1349=)
c.3993T>A (p.Ser1331=)
c.3954T>A (p.Ser1318=)
c.3903T>A (p.Ser1301=)
c.1035T>A (p.Ser345=)
18g.33743919T>CCA503770566ASXL3c.4074T>C (p.Ser1358=)
c.4071T>C (p.Ser1357=)
c.3951T>C (p.Ser1317=)
c.4047T>C (p.Ser1349=)
c.3993T>C (p.Ser1331=)
c.3954T>C (p.Ser1318=)
c.3903T>C (p.Ser1301=)
c.1035T>C (p.Ser345=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743919T>GCA503770571ASXL3c.4074T>G (p.Ser1358=)
c.4071T>G (p.Ser1357=)
c.3951T>G (p.Ser1317=)
c.4047T>G (p.Ser1349=)
c.3993T>G (p.Ser1331=)
c.3954T>G (p.Ser1318=)
c.3903T>G (p.Ser1301=)
c.1035T>G (p.Ser345=)
 gnomAD v4
18g.33743919T=CA2294857900ASXL3c.4074T= (p.Ser1358=)
c.4071T= (p.Ser1357=)
c.3951T= (p.Ser1317=)
c.4047T= (p.Ser1349=)
c.3993T= (p.Ser1331=)
c.3954T= (p.Ser1318=)
c.3903T= (p.Ser1301=)
c.1035T= (p.Ser345=)
18g.33743920_33743921delCA2695227399ASXL3c.4075_4076del (p.Val1359LeufsTer8)
c.4072_4073del (p.Val1358LeufsTer8)
c.3952_3953del (p.Val1318LeufsTer8)
c.4048_4049del (p.Val1350LeufsTer8)
c.3994_3995del (p.Val1332LeufsTer8)
c.3955_3956del (p.Val1319LeufsTer8)
c.3904_3905del (p.Val1302LeufsTer8)
c.1036_1037del (p.Val346LeufsTer8)
18g.33743919_33743933delinsTGTCTTGATTCCCCCCA2294857901ASXL3c.4074_4088delinsTGTCTTGATTCCCCC (p.Ser1358=)
c.4071_4085delinsTGTCTTGATTCCCCC (p.Ser1357=)
c.3951_3965delinsTGTCTTGATTCCCCC (p.Ser1317=)
c.4047_4061delinsTGTCTTGATTCCCCC (p.Ser1349=)
c.3993_4007delinsTGTCTTGATTCCCCC (p.Ser1331=)
c.3954_3968delinsTGTCTTGATTCCCCC (p.Ser1318=)
c.3903_3917delinsTGTCTTGATTCCCCC (p.Ser1301=)
c.1035_1049delinsTGTCTTGATTCCCCC (p.Ser345=)
18g.33743920G>ACA402189883ASXL3c.4075G>A (p.Val1359Ile)
c.4072G>A (p.Val1358Ile)
c.3952G>A (p.Val1318Ile)
c.4048G>A (p.Val1350Ile)
c.3994G>A (p.Val1332Ile)
c.3955G>A (p.Val1319Ile)
c.3904G>A (p.Val1302Ile)
c.1036G>A (p.Val346Ile)
18g.33743920G>CCA402189881ASXL3c.4075G>C (p.Val1359Leu)
c.4072G>C (p.Val1358Leu)
c.3952G>C (p.Val1318Leu)
c.4048G>C (p.Val1350Leu)
c.3994G>C (p.Val1332Leu)
c.3955G>C (p.Val1319Leu)
c.3904G>C (p.Val1302Leu)
c.1036G>C (p.Val346Leu)
18g.33743920G=CA2294857902ASXL3c.4075G= (p.Val1359=)
c.4072G= (p.Val1358=)
c.3952G= (p.Val1318=)
c.4048G= (p.Val1350=)
c.3994G= (p.Val1332=)
c.3955G= (p.Val1319=)
c.3904G= (p.Val1302=)
c.1036G= (p.Val346=)
18g.33743920G>TCA8934166ASXL3c.4075G>T (p.Val1359Phe)
c.4072G>T (p.Val1358Phe)
c.3952G>T (p.Val1318Phe)
c.4048G>T (p.Val1350Phe)
c.3994G>T (p.Val1332Phe)
c.3955G>T (p.Val1319Phe)
c.3904G>T (p.Val1302Phe)
c.1036G>T (p.Val346Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743920_33743933delCA658824693ASXL3c.4075_4088del (p.Val1359AsnfsTer4)
c.4072_4085del (p.Val1358AsnfsTer4)
c.3952_3965del (p.Val1318AsnfsTer4)
c.4048_4061del (p.Val1350AsnfsTer4)
c.3994_4007del (p.Val1332AsnfsTer4)
c.3955_3968del (p.Val1319AsnfsTer4)
c.3904_3917del (p.Val1302AsnfsTer4)
c.1036_1049del (p.Val346AsnfsTer4)
 ClinVar dbSNP
18g.33743921T>ACA402189886ASXL3c.4076T>A (p.Val1359Asp)
c.4073T>A (p.Val1358Asp)
c.3953T>A (p.Val1318Asp)
c.4049T>A (p.Val1350Asp)
c.3995T>A (p.Val1332Asp)
c.3956T>A (p.Val1319Asp)
c.3905T>A (p.Val1302Asp)
c.1037T>A (p.Val346Asp)
18g.33743921T>CCA402189889ASXL3c.4076T>C (p.Val1359Ala)
c.4073T>C (p.Val1358Ala)
c.3953T>C (p.Val1318Ala)
c.4049T>C (p.Val1350Ala)
c.3995T>C (p.Val1332Ala)
c.3956T>C (p.Val1319Ala)
c.3905T>C (p.Val1302Ala)
c.1037T>C (p.Val346Ala)
 COSMIC
18g.33743921T>GCA402189887ASXL3c.4076T>G (p.Val1359Gly)
c.4073T>G (p.Val1358Gly)
c.3953T>G (p.Val1318Gly)
c.4049T>G (p.Val1350Gly)
c.3995T>G (p.Val1332Gly)
c.3956T>G (p.Val1319Gly)
c.3905T>G (p.Val1302Gly)
c.1037T>G (p.Val346Gly)
18g.33743922C>ACA503770582ASXL3c.4077C>A (p.Val1359=)
c.4074C>A (p.Val1358=)
c.3954C>A (p.Val1318=)
c.4050C>A (p.Val1350=)
c.3996C>A (p.Val1332=)
c.3957C>A (p.Val1319=)
c.3906C>A (p.Val1302=)
c.1038C>A (p.Val346=)
18g.33743922C>GCA503770584ASXL3c.4077C>G (p.Val1359=)
c.4074C>G (p.Val1358=)
c.3954C>G (p.Val1318=)
c.4050C>G (p.Val1350=)
c.3996C>G (p.Val1332=)
c.3957C>G (p.Val1319=)
c.3906C>G (p.Val1302=)
c.1038C>G (p.Val346=)
18g.33743922C>TCA503770588ASXL3c.4077C>T (p.Val1359=)
c.4074C>T (p.Val1358=)
c.3954C>T (p.Val1318=)
c.4050C>T (p.Val1350=)
c.3996C>T (p.Val1332=)
c.3957C>T (p.Val1319=)
c.3906C>T (p.Val1302=)
c.1038C>T (p.Val346=)
18g.33743923T>ACA402189891ASXL3c.4078T>A (p.Leu1360Met)
c.4075T>A (p.Leu1359Met)
c.3955T>A (p.Leu1319Met)
c.4051T>A (p.Leu1351Met)
c.3997T>A (p.Leu1333Met)
c.3958T>A (p.Leu1320Met)
c.3907T>A (p.Leu1303Met)
c.1039T>A (p.Leu347Met)
18g.33743923T>CCA503770590ASXL3c.4078T>C (p.Leu1360=)
c.4075T>C (p.Leu1359=)
c.3955T>C (p.Leu1319=)
c.4051T>C (p.Leu1351=)
c.3997T>C (p.Leu1333=)
c.3958T>C (p.Leu1320=)
c.3907T>C (p.Leu1303=)
c.1039T>C (p.Leu347=)
18g.33743923T>GCA402189894ASXL3c.4078T>G (p.Leu1360Val)
c.4075T>G (p.Leu1359Val)
c.3955T>G (p.Leu1319Val)
c.4051T>G (p.Leu1351Val)
c.3997T>G (p.Leu1333Val)
c.3958T>G (p.Leu1320Val)
c.3907T>G (p.Leu1303Val)
c.1039T>G (p.Leu347Val)
 dbSNP gnomAD v3 gnomAD v4
18g.33743923T=CA2294857903ASXL3c.4078T= (p.Leu1360=)
c.4075T= (p.Leu1359=)
c.3955T= (p.Leu1319=)
c.4051T= (p.Leu1351=)
c.3997T= (p.Leu1333=)
c.3958T= (p.Leu1320=)
c.3907T= (p.Leu1303=)
c.1039T= (p.Leu347=)
18g.33743924T>ACA402189896ASXL3c.4079T>A (p.Leu1360Ter)
c.4076T>A (p.Leu1359Ter)
c.3956T>A (p.Leu1319Ter)
c.4052T>A (p.Leu1351Ter)
c.3998T>A (p.Leu1333Ter)
c.3959T>A (p.Leu1320Ter)
c.3908T>A (p.Leu1303Ter)
c.1040T>A (p.Leu347Ter)
18g.33743924T>CCA402189898ASXL3c.4079T>C (p.Leu1360Ser)
c.4076T>C (p.Leu1359Ser)
c.3956T>C (p.Leu1319Ser)
c.4052T>C (p.Leu1351Ser)
c.3998T>C (p.Leu1333Ser)
c.3959T>C (p.Leu1320Ser)
c.3908T>C (p.Leu1303Ser)
c.1040T>C (p.Leu347Ser)
18g.33743924T>GCA402189900ASXL3c.4079T>G (p.Leu1360Trp)
c.4076T>G (p.Leu1359Trp)
c.3956T>G (p.Leu1319Trp)
c.4052T>G (p.Leu1351Trp)
c.3998T>G (p.Leu1333Trp)
c.3959T>G (p.Leu1320Trp)
c.3908T>G (p.Leu1303Trp)
c.1040T>G (p.Leu347Trp)
 dbSNP
18g.33743924T=CA2294857904ASXL3c.4079T= (p.Leu1360=)
c.4076T= (p.Leu1359=)
c.3956T= (p.Leu1319=)
c.4052T= (p.Leu1351=)
c.3998T= (p.Leu1333=)
c.3959T= (p.Leu1320=)
c.3908T= (p.Leu1303=)
c.1040T= (p.Leu347=)
18g.33743925G>ACA503770596ASXL3c.4080G>A (p.Leu1360=)
c.4077G>A (p.Leu1359=)
c.3957G>A (p.Leu1319=)
c.4053G>A (p.Leu1351=)
c.3999G>A (p.Leu1333=)
c.3960G>A (p.Leu1320=)
c.3909G>A (p.Leu1303=)
c.1041G>A (p.Leu347=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33743925G>CCA402189903ASXL3c.4080G>C (p.Leu1360Phe)
c.4077G>C (p.Leu1359Phe)
c.3957G>C (p.Leu1319Phe)
c.4053G>C (p.Leu1351Phe)
c.3999G>C (p.Leu1333Phe)
c.3960G>C (p.Leu1320Phe)
c.3909G>C (p.Leu1303Phe)
c.1041G>C (p.Leu347Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33743925G=CA2294857905ASXL3c.4080G= (p.Leu1360=)
c.4077G= (p.Leu1359=)
c.3957G= (p.Leu1319=)
c.4053G= (p.Leu1351=)
c.3999G= (p.Leu1333=)
c.3960G= (p.Leu1320=)
c.3909G= (p.Leu1303=)
c.1041G= (p.Leu347=)
18g.33743925G>TCA402189905ASXL3c.4080G>T (p.Leu1360Phe)
c.4077G>T (p.Leu1359Phe)
c.3957G>T (p.Leu1319Phe)
c.4053G>T (p.Leu1351Phe)
c.3999G>T (p.Leu1333Phe)
c.3960G>T (p.Leu1320Phe)
c.3909G>T (p.Leu1303Phe)
c.1041G>T (p.Leu347Phe)
18g.33743926A>CCA402189908ASXL3c.4081A>C (p.Ile1361Leu)
c.4078A>C (p.Ile1360Leu)
c.3958A>C (p.Ile1320Leu)
c.4054A>C (p.Ile1352Leu)
c.4000A>C (p.Ile1334Leu)
c.3961A>C (p.Ile1321Leu)
c.3910A>C (p.Ile1304Leu)
c.1042A>C (p.Ile348Leu)
18g.33743926A>GCA402189909ASXL3c.4081A>G (p.Ile1361Val)
c.4078A>G (p.Ile1360Val)
c.3958A>G (p.Ile1320Val)
c.4054A>G (p.Ile1352Val)
c.4000A>G (p.Ile1334Val)
c.3961A>G (p.Ile1321Val)
c.3910A>G (p.Ile1304Val)
c.1042A>G (p.Ile348Val)
18g.33743926A>TCA402189912ASXL3c.4081A>T (p.Ile1361Phe)
c.4078A>T (p.Ile1360Phe)
c.3958A>T (p.Ile1320Phe)
c.4054A>T (p.Ile1352Phe)
c.4000A>T (p.Ile1334Phe)
c.3961A>T (p.Ile1321Phe)
c.3910A>T (p.Ile1304Phe)
c.1042A>T (p.Ile348Phe)
18g.33743927T>ACA402189915ASXL3c.4082T>A (p.Ile1361Asn)
c.4079T>A (p.Ile1360Asn)
c.3959T>A (p.Ile1320Asn)
c.4055T>A (p.Ile1352Asn)
c.4001T>A (p.Ile1334Asn)
c.3962T>A (p.Ile1321Asn)
c.3911T>A (p.Ile1304Asn)
c.1043T>A (p.Ile348Asn)
18g.33743927T>CCA402189916ASXL3c.4082T>C (p.Ile1361Thr)
c.4079T>C (p.Ile1360Thr)
c.3959T>C (p.Ile1320Thr)
c.4055T>C (p.Ile1352Thr)
c.4001T>C (p.Ile1334Thr)
c.3962T>C (p.Ile1321Thr)
c.3911T>C (p.Ile1304Thr)
c.1043T>C (p.Ile348Thr)
18g.33743927T>GCA402189918ASXL3c.4082T>G (p.Ile1361Ser)
c.4079T>G (p.Ile1360Ser)
c.3959T>G (p.Ile1320Ser)
c.4055T>G (p.Ile1352Ser)
c.4001T>G (p.Ile1334Ser)
c.3962T>G (p.Ile1321Ser)
c.3911T>G (p.Ile1304Ser)
c.1043T>G (p.Ile348Ser)
18g.33743928T>ACA8934167ASXL3c.4083T>A (p.Ile1361=)
c.4080T>A (p.Ile1360=)
c.3960T>A (p.Ile1320=)
c.4056T>A (p.Ile1352=)
c.4002T>A (p.Ile1334=)
c.3963T>A (p.Ile1321=)
c.3912T>A (p.Ile1304=)
c.1044T>A (p.Ile348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743928T>CCA503770603ASXL3c.4083T>C (p.Ile1361=)
c.4080T>C (p.Ile1360=)
c.3960T>C (p.Ile1320=)
c.4056T>C (p.Ile1352=)
c.4002T>C (p.Ile1334=)
c.3963T>C (p.Ile1321=)
c.3912T>C (p.Ile1304=)
c.1044T>C (p.Ile348=)
 dbSNP gnomAD v2 gnomAD v4
18g.33743928T>GCA402189923ASXL3c.4083T>G (p.Ile1361Met)
c.4080T>G (p.Ile1360Met)
c.3960T>G (p.Ile1320Met)
c.4056T>G (p.Ile1352Met)
c.4002T>G (p.Ile1334Met)
c.3963T>G (p.Ile1321Met)
c.3912T>G (p.Ile1304Met)
c.1044T>G (p.Ile348Met)
 ClinVar gnomAD v4
18g.33743928T=CA2294857906ASXL3c.4083T= (p.Ile1361=)
c.4080T= (p.Ile1360=)
c.3960T= (p.Ile1320=)
c.4056T= (p.Ile1352=)
c.4002T= (p.Ile1334=)
c.3963T= (p.Ile1321=)
c.3912T= (p.Ile1304=)
c.1044T= (p.Ile348=)
18g.33743928_33743929delinsTCCA2294857907ASXL3c.4083_4084delinsTC (p.Ile1361=)
c.4080_4081delinsTC (p.Ile1360=)
c.3960_3961delinsTC (p.Ile1320=)
c.4056_4057delinsTC (p.Ile1352=)
c.4002_4003delinsTC (p.Ile1334=)
c.3963_3964delinsTC (p.Ile1321=)
c.3912_3913delinsTC (p.Ile1304=)
c.1044_1045delinsTC (p.Ile348=)
18g.33743929C>ACA402189929ASXL3c.4084C>A (p.Pro1362Thr)
c.4081C>A (p.Pro1361Thr)
c.3961C>A (p.Pro1321Thr)
c.4057C>A (p.Pro1353Thr)
c.4003C>A (p.Pro1335Thr)
c.3964C>A (p.Pro1322Thr)
c.3913C>A (p.Pro1305Thr)
c.1045C>A (p.Pro349Thr)
 gnomAD v4
18g.33743929C>GCA402189928ASXL3c.4084C>G (p.Pro1362Ala)
c.4081C>G (p.Pro1361Ala)
c.3961C>G (p.Pro1321Ala)
c.4057C>G (p.Pro1353Ala)
c.4003C>G (p.Pro1335Ala)
c.3964C>G (p.Pro1322Ala)
c.3913C>G (p.Pro1305Ala)
c.1045C>G (p.Pro349Ala)
18g.33743929C>TCA402189925ASXL3c.4084C>T (p.Pro1362Ser)
c.4081C>T (p.Pro1361Ser)
c.3961C>T (p.Pro1321Ser)
c.4057C>T (p.Pro1353Ser)
c.4003C>T (p.Pro1335Ser)
c.3964C>T (p.Pro1322Ser)
c.3913C>T (p.Pro1305Ser)
c.1045C>T (p.Pro349Ser)
 gnomAD v4 COSMIC
18g.33743933delCA919961068ASXL3c.4088del (p.Pro1363GlnfsTer13)
c.4085del (p.Pro1362GlnfsTer13)
c.3965del (p.Pro1322GlnfsTer13)
c.4061del (p.Pro1354GlnfsTer13)
c.4007del (p.Pro1336GlnfsTer13)
c.3968del (p.Pro1323GlnfsTer13)
c.3917del (p.Pro1306GlnfsTer13)
c.1049del (p.Pro350GlnfsTer13)
 dbSNP
18g.33743930C>ACA402189931ASXL3c.4085C>A (p.Pro1362His)
c.4082C>A (p.Pro1361His)
c.3962C>A (p.Pro1321His)
c.4058C>A (p.Pro1353His)
c.4004C>A (p.Pro1335His)
c.3965C>A (p.Pro1322His)
c.3914C>A (p.Pro1305His)
c.1046C>A (p.Pro349His)
18g.33743930C=CA2294857908ASXL3c.4085C= (p.Pro1362=)
c.4082C= (p.Pro1361=)
c.3962C= (p.Pro1321=)
c.4058C= (p.Pro1353=)
c.4004C= (p.Pro1335=)
c.3965C= (p.Pro1322=)
c.3914C= (p.Pro1305=)
c.1046C= (p.Pro349=)
18g.33743930C>GCA402189933ASXL3c.4085C>G (p.Pro1362Arg)
c.4082C>G (p.Pro1361Arg)
c.3962C>G (p.Pro1321Arg)
c.4058C>G (p.Pro1353Arg)
c.4004C>G (p.Pro1335Arg)
c.3965C>G (p.Pro1322Arg)
c.3914C>G (p.Pro1305Arg)
c.1046C>G (p.Pro349Arg)
 dbSNP gnomAD v4
18g.33743930C>TCA8934168ASXL3c.4085C>T (p.Pro1362Leu)
c.4082C>T (p.Pro1361Leu)
c.3962C>T (p.Pro1321Leu)
c.4058C>T (p.Pro1353Leu)
c.4004C>T (p.Pro1335Leu)
c.3965C>T (p.Pro1322Leu)
c.3914C>T (p.Pro1305Leu)
c.1046C>T (p.Pro349Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743931C>ACA503770615ASXL3c.4086C>A (p.Pro1362=)
c.4083C>A (p.Pro1361=)
c.3963C>A (p.Pro1321=)
c.4059C>A (p.Pro1353=)
c.4005C>A (p.Pro1335=)
c.3966C>A (p.Pro1322=)
c.3915C>A (p.Pro1305=)
c.1047C>A (p.Pro349=)
18g.33743931C=CA2294857909ASXL3c.4086C= (p.Pro1362=)
c.4083C= (p.Pro1361=)
c.3963C= (p.Pro1321=)
c.4059C= (p.Pro1353=)
c.4005C= (p.Pro1335=)
c.3966C= (p.Pro1322=)
c.3915C= (p.Pro1305=)
c.1047C= (p.Pro349=)
18g.33743931C>GCA503770618ASXL3c.4086C>G (p.Pro1362=)
c.4083C>G (p.Pro1361=)
c.3963C>G (p.Pro1321=)
c.4059C>G (p.Pro1353=)
c.4005C>G (p.Pro1335=)
c.3966C>G (p.Pro1322=)
c.3915C>G (p.Pro1305=)
c.1047C>G (p.Pro349=)
18g.33743931C>TCA8934169ASXL3c.4086C>T (p.Pro1362=)
c.4083C>T (p.Pro1361=)
c.3963C>T (p.Pro1321=)
c.4059C>T (p.Pro1353=)
c.4005C>T (p.Pro1335=)
c.3966C>T (p.Pro1322=)
c.3915C>T (p.Pro1305=)
c.1047C>T (p.Pro349=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743932C>ACA402189935ASXL3c.4087C>A (p.Pro1363Thr)
c.4084C>A (p.Pro1362Thr)
c.3964C>A (p.Pro1322Thr)
c.4060C>A (p.Pro1354Thr)
c.4006C>A (p.Pro1336Thr)
c.3967C>A (p.Pro1323Thr)
c.3916C>A (p.Pro1306Thr)
c.1048C>A (p.Pro350Thr)
18g.33743932C>GCA402189938ASXL3c.4087C>G (p.Pro1363Ala)
c.4084C>G (p.Pro1362Ala)
c.3964C>G (p.Pro1322Ala)
c.4060C>G (p.Pro1354Ala)
c.4006C>G (p.Pro1336Ala)
c.3967C>G (p.Pro1323Ala)
c.3916C>G (p.Pro1306Ala)
c.1048C>G (p.Pro350Ala)
18g.33743932C>TCA402189939ASXL3c.4087C>T (p.Pro1363Ser)
c.4084C>T (p.Pro1362Ser)
c.3964C>T (p.Pro1322Ser)
c.4060C>T (p.Pro1354Ser)
c.4006C>T (p.Pro1336Ser)
c.3967C>T (p.Pro1323Ser)
c.3916C>T (p.Pro1306Ser)
c.1048C>T (p.Pro350Ser)
 gnomAD v4
18g.33743933C>ACA402189943ASXL3c.4088C>A (p.Pro1363Gln)
c.4085C>A (p.Pro1362Gln)
c.3965C>A (p.Pro1322Gln)
c.4061C>A (p.Pro1354Gln)
c.4007C>A (p.Pro1336Gln)
c.3968C>A (p.Pro1323Gln)
c.3917C>A (p.Pro1306Gln)
c.1049C>A (p.Pro350Gln)
18g.33743933C>GCA402189944ASXL3c.4088C>G (p.Pro1363Arg)
c.4085C>G (p.Pro1362Arg)
c.3965C>G (p.Pro1322Arg)
c.4061C>G (p.Pro1354Arg)
c.4007C>G (p.Pro1336Arg)
c.3968C>G (p.Pro1323Arg)
c.3917C>G (p.Pro1306Arg)
c.1049C>G (p.Pro350Arg)
18g.33743933C>TCA402189946ASXL3c.4088C>T (p.Pro1363Leu)
c.4085C>T (p.Pro1362Leu)
c.3965C>T (p.Pro1322Leu)
c.4061C>T (p.Pro1354Leu)
c.4007C>T (p.Pro1336Leu)
c.3968C>T (p.Pro1323Leu)
c.3917C>T (p.Pro1306Leu)
c.1049C>T (p.Pro350Leu)
18g.33743934A=CA2294857910ASXL3c.4089A= (p.Pro1363=)
c.4086A= (p.Pro1362=)
c.3966A= (p.Pro1322=)
c.4062A= (p.Pro1354=)
c.4008A= (p.Pro1336=)
c.3969A= (p.Pro1323=)
c.3918A= (p.Pro1306=)
c.1050A= (p.Pro350=)
18g.33743934A>CCA503770622ASXL3c.4089A>C (p.Pro1363=)
c.4086A>C (p.Pro1362=)
c.3966A>C (p.Pro1322=)
c.4062A>C (p.Pro1354=)
c.4008A>C (p.Pro1336=)
c.3969A>C (p.Pro1323=)
c.3918A>C (p.Pro1306=)
c.1050A>C (p.Pro350=)
18g.33743934A>GCA297793339ASXL3c.4089A>G (p.Pro1363=)
c.4086A>G (p.Pro1362=)
c.3966A>G (p.Pro1322=)
c.4062A>G (p.Pro1354=)
c.4008A>G (p.Pro1336=)
c.3969A>G (p.Pro1323=)
c.3918A>G (p.Pro1306=)
c.1050A>G (p.Pro350=)
 dbSNP gnomAD v4
18g.33743934A>TCA503770625ASXL3c.4089A>T (p.Pro1363=)
c.4086A>T (p.Pro1362=)
c.3966A>T (p.Pro1322=)
c.4062A>T (p.Pro1354=)
c.4008A>T (p.Pro1336=)
c.3969A>T (p.Pro1323=)
c.3918A>T (p.Pro1306=)
c.1050A>T (p.Pro350=)
18g.33743935dupCA503770627ASXL3c.4090dup (p.Met1364AsnfsTer4)
c.4087dup (p.Met1363AsnfsTer4)
c.3967dup (p.Met1323AsnfsTer4)
c.4063dup (p.Met1355AsnfsTer4)
c.4009dup (p.Met1337AsnfsTer4)
c.3970dup (p.Met1324AsnfsTer4)
c.3919dup (p.Met1307AsnfsTer4)
c.1051dup (p.Met351AsnfsTer4)
18g.33743934_33743936delinsAATCA2294857911ASXL3c.4089_4091delinsAAT (p.Pro1363=)
c.4086_4088delinsAAT (p.Pro1362=)
c.3966_3968delinsAAT (p.Pro1322=)
c.4062_4064delinsAAT (p.Pro1354=)
c.4008_4010delinsAAT (p.Pro1336=)
c.3969_3971delinsAAT (p.Pro1323=)
c.3918_3920delinsAAT (p.Pro1306=)
c.1050_1052delinsAAT (p.Pro350=)
18g.33743935A=CA2294857912ASXL3c.4090A= (p.Met1364=)
c.4087A= (p.Met1363=)
c.3967A= (p.Met1323=)
c.4063A= (p.Met1355=)
c.4009A= (p.Met1337=)
c.3970A= (p.Met1324=)
c.3919A= (p.Met1307=)
c.1051A= (p.Met351=)
18g.33743935A>CCA402189948ASXL3c.4090A>C (p.Met1364Leu)
c.4087A>C (p.Met1363Leu)
c.3967A>C (p.Met1323Leu)
c.4063A>C (p.Met1355Leu)
c.4009A>C (p.Met1337Leu)
c.3970A>C (p.Met1324Leu)
c.3919A>C (p.Met1307Leu)
c.1051A>C (p.Met351Leu)
18g.33743935A>GCA8934170ASXL3c.4090A>G (p.Met1364Val)
c.4087A>G (p.Met1363Val)
c.3967A>G (p.Met1323Val)
c.4063A>G (p.Met1355Val)
c.4009A>G (p.Met1337Val)
c.3970A>G (p.Met1324Val)
c.3919A>G (p.Met1307Val)
c.1051A>G (p.Met351Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743935A>TCA402189952ASXL3c.4090A>T (p.Met1364Leu)
c.4087A>T (p.Met1363Leu)
c.3967A>T (p.Met1323Leu)
c.4063A>T (p.Met1355Leu)
c.4009A>T (p.Met1337Leu)
c.3970A>T (p.Met1324Leu)
c.3919A>T (p.Met1307Leu)
c.1051A>T (p.Met351Leu)
18g.33743935_33743936delinsGCA915952505ASXL3c.4090_4091delinsG (p.Met1364GlyfsTer12)
c.4087_4088delinsG (p.Met1363GlyfsTer12)
c.3967_3968delinsG (p.Met1323GlyfsTer12)
c.4063_4064delinsG (p.Met1355GlyfsTer12)
c.4009_4010delinsG (p.Met1337GlyfsTer12)
c.3970_3971delinsG (p.Met1324GlyfsTer12)
c.3919_3920delinsG (p.Met1307GlyfsTer12)
c.1051_1052delinsG (p.Met351GlyfsTer12)
 ClinVar dbSNP
18g.33743936T>ACA402189957ASXL3c.4091T>A (p.Met1364Lys)
c.4088T>A (p.Met1363Lys)
c.3968T>A (p.Met1323Lys)
c.4064T>A (p.Met1355Lys)
c.4010T>A (p.Met1337Lys)
c.3971T>A (p.Met1324Lys)
c.3920T>A (p.Met1307Lys)
c.1052T>A (p.Met351Lys)
18g.33743936T>CCA402189958ASXL3c.4091T>C (p.Met1364Thr)
c.4088T>C (p.Met1363Thr)
c.3968T>C (p.Met1323Thr)
c.4064T>C (p.Met1355Thr)
c.4010T>C (p.Met1337Thr)
c.3971T>C (p.Met1324Thr)
c.3920T>C (p.Met1307Thr)
c.1052T>C (p.Met351Thr)
 dbSNP gnomAD v4
18g.33743936T>GCA402189955ASXL3c.4091T>G (p.Met1364Arg)
c.4088T>G (p.Met1363Arg)
c.3968T>G (p.Met1323Arg)
c.4064T>G (p.Met1355Arg)
c.4010T>G (p.Met1337Arg)
c.3971T>G (p.Met1324Arg)
c.3920T>G (p.Met1307Arg)
c.1052T>G (p.Met351Arg)
18g.33743937G>ACA402189962ASXL3c.4092G>A (p.Met1364Ile)
c.4089G>A (p.Met1363Ile)
c.3969G>A (p.Met1323Ile)
c.4065G>A (p.Met1355Ile)
c.4011G>A (p.Met1337Ile)
c.3972G>A (p.Met1324Ile)
c.3921G>A (p.Met1307Ile)
c.1053G>A (p.Met351Ile)
 COSMIC
18g.33743937G>CCA402189963ASXL3c.4092G>C (p.Met1364Ile)
c.4089G>C (p.Met1363Ile)
c.3969G>C (p.Met1323Ile)
c.4065G>C (p.Met1355Ile)
c.4011G>C (p.Met1337Ile)
c.3972G>C (p.Met1324Ile)
c.3921G>C (p.Met1307Ile)
c.1053G>C (p.Met351Ile)
18g.33743937G>TCA402189965ASXL3c.4092G>T (p.Met1364Ile)
c.4089G>T (p.Met1363Ile)
c.3969G>T (p.Met1323Ile)
c.4065G>T (p.Met1355Ile)
c.4011G>T (p.Met1337Ile)
c.3972G>T (p.Met1324Ile)
c.3921G>T (p.Met1307Ile)
c.1053G>T (p.Met351Ile)
18g.33743938G>ACA402189968ASXL3c.4093G>A (p.Gly1365Arg)
c.4090G>A (p.Gly1364Arg)
c.3970G>A (p.Gly1324Arg)
c.4066G>A (p.Gly1356Arg)
c.4012G>A (p.Gly1338Arg)
c.3973G>A (p.Gly1325Arg)
c.3922G>A (p.Gly1308Arg)
c.1054G>A (p.Gly352Arg)
18g.33743938G>CCA402189970ASXL3c.4093G>C (p.Gly1365Arg)
c.4090G>C (p.Gly1364Arg)
c.3970G>C (p.Gly1324Arg)
c.4066G>C (p.Gly1356Arg)
c.4012G>C (p.Gly1338Arg)
c.3973G>C (p.Gly1325Arg)
c.3922G>C (p.Gly1308Arg)
c.1054G>C (p.Gly352Arg)
18g.33743938G>TCA402189973ASXL3c.4093G>T (p.Gly1365Ter)
c.4090G>T (p.Gly1364Ter)
c.3970G>T (p.Gly1324Ter)
c.4066G>T (p.Gly1356Ter)
c.4012G>T (p.Gly1338Ter)
c.3973G>T (p.Gly1325Ter)
c.3922G>T (p.Gly1308Ter)
c.1054G>T (p.Gly352Ter)
18g.33743939G>ACA402189976ASXL3c.4094G>A (p.Gly1365Glu)
c.4091G>A (p.Gly1364Glu)
c.3971G>A (p.Gly1324Glu)
c.4067G>A (p.Gly1356Glu)
c.4013G>A (p.Gly1338Glu)
c.3974G>A (p.Gly1325Glu)
c.3923G>A (p.Gly1308Glu)
c.1055G>A (p.Gly352Glu)
18g.33743939G>CCA402189977ASXL3c.4094G>C (p.Gly1365Ala)
c.4091G>C (p.Gly1364Ala)
c.3971G>C (p.Gly1324Ala)
c.4067G>C (p.Gly1356Ala)
c.4013G>C (p.Gly1338Ala)
c.3974G>C (p.Gly1325Ala)
c.3923G>C (p.Gly1308Ala)
c.1055G>C (p.Gly352Ala)
18g.33743939G>TCA402189979ASXL3c.4094G>T (p.Gly1365Val)
c.4091G>T (p.Gly1364Val)
c.3971G>T (p.Gly1324Val)
c.4067G>T (p.Gly1356Val)
c.4013G>T (p.Gly1338Val)
c.3974G>T (p.Gly1325Val)
c.3923G>T (p.Gly1308Val)
c.1055G>T (p.Gly352Val)
18g.33743940A>CCA503770652ASXL3c.4095A>C (p.Gly1365=)
c.4092A>C (p.Gly1364=)
c.3972A>C (p.Gly1324=)
c.4068A>C (p.Gly1356=)
c.4014A>C (p.Gly1338=)
c.3975A>C (p.Gly1325=)
c.3924A>C (p.Gly1308=)
c.1056A>C (p.Gly352=)
18g.33743940A>GCA503770653ASXL3c.4095A>G (p.Gly1365=)
c.4092A>G (p.Gly1364=)
c.3972A>G (p.Gly1324=)
c.4068A>G (p.Gly1356=)
c.4014A>G (p.Gly1338=)
c.3975A>G (p.Gly1325=)
c.3924A>G (p.Gly1308=)
c.1056A>G (p.Gly352=)
18g.33743940A>TCA503770650ASXL3c.4095A>T (p.Gly1365=)
c.4092A>T (p.Gly1364=)
c.3972A>T (p.Gly1324=)
c.4068A>T (p.Gly1356=)
c.4014A>T (p.Gly1338=)
c.3975A>T (p.Gly1325=)
c.3924A>T (p.Gly1308=)
c.1056A>T (p.Gly352=)
18g.33743942_33743945dupCA2641457824ASXL3c.4097_4100dup (p.Asn1368Ter)
c.4094_4097dup (p.Asn1367Ter)
c.3974_3977dup (p.Asn1327Ter)
c.4070_4073dup (p.Asn1359Ter)
c.4016_4019dup (p.Asn1341Ter)
c.3977_3980dup (p.Asn1328Ter)
c.3926_3929dup (p.Asn1311Ter)
c.1058_1061dup (p.Asn355Ter)
 gnomAD v4
18g.33743941A=CA2294857913ASXL3c.4096A= (p.Ile1366=)
c.4093A= (p.Ile1365=)
c.3973A= (p.Ile1325=)
c.4069A= (p.Ile1357=)
c.4015A= (p.Ile1339=)
c.3976A= (p.Ile1326=)
c.3925A= (p.Ile1309=)
c.1057A= (p.Ile353=)
18g.33743941A>CCA402189981ASXL3c.4096A>C (p.Ile1366Leu)
c.4093A>C (p.Ile1365Leu)
c.3973A>C (p.Ile1325Leu)
c.4069A>C (p.Ile1357Leu)
c.4015A>C (p.Ile1339Leu)
c.3976A>C (p.Ile1326Leu)
c.3925A>C (p.Ile1309Leu)
c.1057A>C (p.Ile353Leu)
18g.33743941A>GCA8934171ASXL3c.4096A>G (p.Ile1366Val)
c.4093A>G (p.Ile1365Val)
c.3973A>G (p.Ile1325Val)
c.4069A>G (p.Ile1357Val)
c.4015A>G (p.Ile1339Val)
c.3976A>G (p.Ile1326Val)
c.3925A>G (p.Ile1309Val)
c.1057A>G (p.Ile353Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743941A>TCA402189985ASXL3c.4096A>T (p.Ile1366Phe)
c.4093A>T (p.Ile1365Phe)
c.3973A>T (p.Ile1325Phe)
c.4069A>T (p.Ile1357Phe)
c.4015A>T (p.Ile1339Phe)
c.3976A>T (p.Ile1326Phe)
c.3925A>T (p.Ile1309Phe)
c.1057A>T (p.Ile353Phe)
18g.33743942T>ACA402189992ASXL3c.4097T>A (p.Ile1366Asn)
c.4094T>A (p.Ile1365Asn)
c.3974T>A (p.Ile1325Asn)
c.4070T>A (p.Ile1357Asn)
c.4016T>A (p.Ile1339Asn)
c.3977T>A (p.Ile1326Asn)
c.3926T>A (p.Ile1309Asn)
c.1058T>A (p.Ile353Asn)
18g.33743942T>CCA402189988ASXL3c.4097T>C (p.Ile1366Thr)
c.4094T>C (p.Ile1365Thr)
c.3974T>C (p.Ile1325Thr)
c.4070T>C (p.Ile1357Thr)
c.4016T>C (p.Ile1339Thr)
c.3977T>C (p.Ile1326Thr)
c.3926T>C (p.Ile1309Thr)
c.1058T>C (p.Ile353Thr)
18g.33743942T>GCA402189990ASXL3c.4097T>G (p.Ile1366Ser)
c.4094T>G (p.Ile1365Ser)
c.3974T>G (p.Ile1325Ser)
c.4070T>G (p.Ile1357Ser)
c.4016T>G (p.Ile1339Ser)
c.3977T>G (p.Ile1326Ser)
c.3926T>G (p.Ile1309Ser)
c.1058T>G (p.Ile353Ser)
18g.33743943T>ACA503770659ASXL3c.4098T>A (p.Ile1366=)
c.4095T>A (p.Ile1365=)
c.3975T>A (p.Ile1325=)
c.4071T>A (p.Ile1357=)
c.4017T>A (p.Ile1339=)
c.3978T>A (p.Ile1326=)
c.3927T>A (p.Ile1309=)
c.1059T>A (p.Ile353=)
18g.33743943T>CCA503770660ASXL3c.4098T>C (p.Ile1366=)
c.4095T>C (p.Ile1365=)
c.3975T>C (p.Ile1325=)
c.4071T>C (p.Ile1357=)
c.4017T>C (p.Ile1339=)
c.3978T>C (p.Ile1326=)
c.3927T>C (p.Ile1309=)
c.1059T>C (p.Ile353=)
18g.33743943T>GCA402189995ASXL3c.4098T>G (p.Ile1366Met)
c.4095T>G (p.Ile1365Met)
c.3975T>G (p.Ile1325Met)
c.4071T>G (p.Ile1357Met)
c.4017T>G (p.Ile1339Met)
c.3978T>G (p.Ile1326Met)
c.3927T>G (p.Ile1309Met)
c.1059T>G (p.Ile353Met)
18g.33743943_33743946delinsTAACCA2294857914ASXL3c.4098_4101delinsTAAC (p.Ile1366=)
c.4095_4098delinsTAAC (p.Ile1365=)
c.3975_3978delinsTAAC (p.Ile1325=)
c.4071_4074delinsTAAC (p.Ile1357=)
c.4017_4020delinsTAAC (p.Ile1339=)
c.3978_3981delinsTAAC (p.Ile1326=)
c.3927_3930delinsTAAC (p.Ile1309=)
c.1059_1062delinsTAAC (p.Ile353=)
18g.33743944A>CCA402189998ASXL3c.4099A>C (p.Asn1367His)
c.4096A>C (p.Asn1366His)
c.3976A>C (p.Asn1326His)
c.4072A>C (p.Asn1358His)
c.4018A>C (p.Asn1340His)
c.3979A>C (p.Asn1327His)
c.3928A>C (p.Asn1310His)
c.1060A>C (p.Asn354His)
18g.33743944A>GCA402190000ASXL3c.4099A>G (p.Asn1367Asp)
c.4096A>G (p.Asn1366Asp)
c.3976A>G (p.Asn1326Asp)
c.4072A>G (p.Asn1358Asp)
c.4018A>G (p.Asn1340Asp)
c.3979A>G (p.Asn1327Asp)
c.3928A>G (p.Asn1310Asp)
c.1060A>G (p.Asn354Asp)
18g.33743944A>TCA402190001ASXL3c.4099A>T (p.Asn1367Tyr)
c.4096A>T (p.Asn1366Tyr)
c.3976A>T (p.Asn1326Tyr)
c.4072A>T (p.Asn1358Tyr)
c.4018A>T (p.Asn1340Tyr)
c.3979A>T (p.Asn1327Tyr)
c.3928A>T (p.Asn1310Tyr)
c.1060A>T (p.Asn354Tyr)
18g.33743948_33743950delCA8934172ASXL3c.4103_4105del (p.Asn1368del)
c.4100_4102del (p.Asn1367del)
c.3980_3982del (p.Asn1327del)
c.4076_4078del (p.Asn1359del)
c.4022_4024del (p.Asn1341del)
c.3983_3985del (p.Asn1328del)
c.3932_3934del (p.Asn1311del)
c.1064_1066del (p.Asn355del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743945A=CA2294857915ASXL3c.4100A= (p.Asn1367=)
c.4097A= (p.Asn1366=)
c.3977A= (p.Asn1326=)
c.4073A= (p.Asn1358=)
c.4019A= (p.Asn1340=)
c.3980A= (p.Asn1327=)
c.3929A= (p.Asn1310=)
c.1061A= (p.Asn354=)
18g.33743945A>CCA402190005ASXL3c.4100A>C (p.Asn1367Thr)
c.4097A>C (p.Asn1366Thr)
c.3977A>C (p.Asn1326Thr)
c.4073A>C (p.Asn1358Thr)
c.4019A>C (p.Asn1340Thr)
c.3980A>C (p.Asn1327Thr)
c.3929A>C (p.Asn1310Thr)
c.1061A>C (p.Asn354Thr)
18g.33743945A>GCA402190007ASXL3c.4100A>G (p.Asn1367Ser)
c.4097A>G (p.Asn1366Ser)
c.3977A>G (p.Asn1326Ser)
c.4073A>G (p.Asn1358Ser)
c.4019A>G (p.Asn1340Ser)
c.3980A>G (p.Asn1327Ser)
c.3929A>G (p.Asn1310Ser)
c.1061A>G (p.Asn354Ser)
 gnomAD v4
18g.33743945A>TCA402190009ASXL3c.4100A>T (p.Asn1367Ile)
c.4097A>T (p.Asn1366Ile)
c.3977A>T (p.Asn1326Ile)
c.4073A>T (p.Asn1358Ile)
c.4019A>T (p.Asn1340Ile)
c.3980A>T (p.Asn1327Ile)
c.3929A>T (p.Asn1310Ile)
c.1061A>T (p.Asn354Ile)
 ClinVar dbSNP gnomAD v4
18g.33743946C>ACA8934173ASXL3c.4101C>A (p.Asn1367Lys)
c.4098C>A (p.Asn1366Lys)
c.3978C>A (p.Asn1326Lys)
c.4074C>A (p.Asn1358Lys)
c.4020C>A (p.Asn1340Lys)
c.3981C>A (p.Asn1327Lys)
c.3930C>A (p.Asn1310Lys)
c.1062C>A (p.Asn354Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743946C=CA2294857916ASXL3c.4101C= (p.Asn1367=)
c.4098C= (p.Asn1366=)
c.3978C= (p.Asn1326=)
c.4074C= (p.Asn1358=)
c.4020C= (p.Asn1340=)
c.3981C= (p.Asn1327=)
c.3930C= (p.Asn1310=)
c.1062C= (p.Asn354=)
18g.33743946C>GCA402190014ASXL3c.4101C>G (p.Asn1367Lys)
c.4098C>G (p.Asn1366Lys)
c.3978C>G (p.Asn1326Lys)
c.4074C>G (p.Asn1358Lys)
c.4020C>G (p.Asn1340Lys)
c.3981C>G (p.Asn1327Lys)
c.3930C>G (p.Asn1310Lys)
c.1062C>G (p.Asn354Lys)
18g.33743946C>TCA503770672ASXL3c.4101C>T (p.Asn1367=)
c.4098C>T (p.Asn1366=)
c.3978C>T (p.Asn1326=)
c.4074C>T (p.Asn1358=)
c.4020C>T (p.Asn1340=)
c.3981C>T (p.Asn1327=)
c.3930C>T (p.Asn1310=)
c.1062C>T (p.Asn354=)
 gnomAD v4
18g.33743947A>CCA402190021ASXL3c.4102A>C (p.Asn1368His)
c.4099A>C (p.Asn1367His)
c.3979A>C (p.Asn1327His)
c.4075A>C (p.Asn1359His)
c.4021A>C (p.Asn1341His)
c.3982A>C (p.Asn1328His)
c.3931A>C (p.Asn1311His)
c.1063A>C (p.Asn355His)
18g.33743947A>GCA402190019ASXL3c.4102A>G (p.Asn1368Asp)
c.4099A>G (p.Asn1367Asp)
c.3979A>G (p.Asn1327Asp)
c.4075A>G (p.Asn1359Asp)
c.4021A>G (p.Asn1341Asp)
c.3982A>G (p.Asn1328Asp)
c.3931A>G (p.Asn1311Asp)
c.1063A>G (p.Asn355Asp)
18g.33743947A>TCA402190017ASXL3c.4102A>T (p.Asn1368Tyr)
c.4099A>T (p.Asn1367Tyr)
c.3979A>T (p.Asn1327Tyr)
c.4075A>T (p.Asn1359Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3982A>T (p.Asn1328Tyr)
c.3931A>T (p.Asn1311Tyr)
c.1063A>T (p.Asn355Tyr)
18g.33743948A>CCA402190024ASXL3c.4103A>C (p.Asn1368Thr)
c.4100A>C (p.Asn1367Thr)
c.3980A>C (p.Asn1327Thr)
c.4076A>C (p.Asn1359Thr)
c.4022A>C (p.Asn1341Thr)
c.3983A>C (p.Asn1328Thr)
c.3932A>C (p.Asn1311Thr)
c.1064A>C (p.Asn355Thr)
18g.33743948A>GCA402190026ASXL3c.4103A>G (p.Asn1368Ser)
c.4100A>G (p.Asn1367Ser)
c.3980A>G (p.Asn1327Ser)
c.4076A>G (p.Asn1359Ser)
c.4022A>G (p.Asn1341Ser)
c.3983A>G (p.Asn1328Ser)
c.3932A>G (p.Asn1311Ser)
c.1064A>G (p.Asn355Ser)
18g.33743948A>TCA402190028ASXL3c.4103A>T (p.Asn1368Ile)
c.4100A>T (p.Asn1367Ile)
c.3980A>T (p.Asn1327Ile)
c.4076A>T (p.Asn1359Ile)
c.4022A>T (p.Asn1341Ile)
c.3983A>T (p.Asn1328Ile)
c.3932A>T (p.Asn1311Ile)
c.1064A>T (p.Asn355Ile)
18g.33743949C>ACA402190030ASXL3c.4104C>A (p.Asn1368Lys)
c.4101C>A (p.Asn1367Lys)
c.3981C>A (p.Asn1327Lys)
c.4077C>A (p.Asn1359Lys)
c.4023C>A (p.Asn1341Lys)
c.3984C>A (p.Asn1328Lys)
c.3933C>A (p.Asn1311Lys)
c.1065C>A (p.Asn355Lys)
18g.33743949C=CA2294857917ASXL3c.4104C= (p.Asn1368=)
c.4101C= (p.Asn1367=)
c.3981C= (p.Asn1327=)
c.4077C= (p.Asn1359=)
c.4023C= (p.Asn1341=)
c.3984C= (p.Asn1328=)
c.3933C= (p.Asn1311=)
c.1065C= (p.Asn355=)
18g.33743949C>GCA402190032ASXL3c.4104C>G (p.Asn1368Lys)
c.4101C>G (p.Asn1367Lys)
c.3981C>G (p.Asn1327Lys)
c.4077C>G (p.Asn1359Lys)
c.4023C>G (p.Asn1341Lys)
c.3984C>G (p.Asn1328Lys)
c.3933C>G (p.Asn1311Lys)
c.1065C>G (p.Asn355Lys)
18g.33743949C>TCA503770678ASXL3c.4104C>T (p.Asn1368=)
c.4101C>T (p.Asn1367=)
c.3981C>T (p.Asn1327=)
c.4077C>T (p.Asn1359=)
c.4023C>T (p.Asn1341=)
c.3984C>T (p.Asn1328=)
c.3933C>T (p.Asn1311=)
c.1065C>T (p.Asn355=)
 dbSNP
18g.33743950A>CCA503770679ASXL3c.4105A>C (p.Arg1369=)
c.4102A>C (p.Arg1368=)
c.3982A>C (p.Arg1328=)
c.4078A>C (p.Arg1360=)
c.4024A>C (p.Arg1342=)
c.3985A>C (p.Arg1329=)
c.3934A>C (p.Arg1312=)
c.1066A>C (p.Arg356=)
18g.33743950A>GCA402190035ASXL3c.4105A>G (p.Arg1369Gly)
c.4102A>G (p.Arg1368Gly)
c.3982A>G (p.Arg1328Gly)
c.4078A>G (p.Arg1360Gly)
c.4024A>G (p.Arg1342Gly)
c.3985A>G (p.Arg1329Gly)
c.3934A>G (p.Arg1312Gly)
c.1066A>G (p.Arg356Gly)
 gnomAD v4
18g.33743950A>TCA402190037ASXL3c.4105A>T (p.Arg1369Ter)
c.4102A>T (p.Arg1368Ter)
c.3982A>T (p.Arg1328Ter)
c.4078A>T (p.Arg1360Ter)
c.4024A>T (p.Arg1342Ter)
c.3985A>T (p.Arg1329Ter)
c.3934A>T (p.Arg1312Ter)
c.1066A>T (p.Arg356Ter)
18g.33743951G>ACA402190044ASXL3c.4106G>A (p.Arg1369Lys)
c.4103G>A (p.Arg1368Lys)
c.3983G>A (p.Arg1328Lys)
c.4079G>A (p.Arg1360Lys)
c.4025G>A (p.Arg1342Lys)
c.3986G>A (p.Arg1329Lys)
c.3935G>A (p.Arg1312Lys)
c.1067G>A (p.Arg356Lys)
 COSMIC
18g.33743951G>CCA402190040ASXL3c.4106G>C (p.Arg1369Thr)
c.4103G>C (p.Arg1368Thr)
c.3983G>C (p.Arg1328Thr)
c.4079G>C (p.Arg1360Thr)
c.4025G>C (p.Arg1342Thr)
c.3986G>C (p.Arg1329Thr)
c.3935G>C (p.Arg1312Thr)
c.1067G>C (p.Arg356Thr)
18g.33743951G>TCA402190041ASXL3c.4106G>T (p.Arg1369Ile)
c.4103G>T (p.Arg1368Ile)
c.3983G>T (p.Arg1328Ile)
c.4079G>T (p.Arg1360Ile)
c.4025G>T (p.Arg1342Ile)
c.3986G>T (p.Arg1329Ile)
c.3935G>T (p.Arg1312Ile)
c.1067G>T (p.Arg356Ile)
 gnomAD v4
18g.33743952A>CCA402190046ASXL3c.4107A>C (p.Arg1369Ser)
c.4104A>C (p.Arg1368Ser)
c.3984A>C (p.Arg1328Ser)
c.4080A>C (p.Arg1360Ser)
c.4026A>C (p.Arg1342Ser)
c.3987A>C (p.Arg1329Ser)
c.3936A>C (p.Arg1312Ser)
c.1068A>C (p.Arg356Ser)
18g.33743952A>GCA503770685ASXL3c.4107A>G (p.Arg1369=)
c.4104A>G (p.Arg1368=)
c.3984A>G (p.Arg1328=)
c.4080A>G (p.Arg1360=)
c.4026A>G (p.Arg1342=)
c.3987A>G (p.Arg1329=)
c.3936A>G (p.Arg1312=)
c.1068A>G (p.Arg356=)
18g.33743952A>TCA402190048ASXL3c.4107A>T (p.Arg1369Ser)
c.4104A>T (p.Arg1368Ser)
c.3984A>T (p.Arg1328Ser)
c.4080A>T (p.Arg1360Ser)
c.4026A>T (p.Arg1342Ser)
c.3987A>T (p.Arg1329Ser)
c.3936A>T (p.Arg1312Ser)
c.1068A>T (p.Arg356Ser)
18g.33743953T>ACA402190051ASXL3c.4108T>A (p.Phe1370Ile)
c.4105T>A (p.Phe1369Ile)
c.3985T>A (p.Phe1329Ile)
c.4081T>A (p.Phe1361Ile)
c.4027T>A (p.Phe1343Ile)
c.3988T>A (p.Phe1330Ile)
c.3937T>A (p.Phe1313Ile)
c.1069T>A (p.Phe357Ile)
18g.33743953T>CCA402190053ASXL3c.4108T>C (p.Phe1370Leu)
c.4105T>C (p.Phe1369Leu)
c.3985T>C (p.Phe1329Leu)
c.4081T>C (p.Phe1361Leu)
c.4027T>C (p.Phe1343Leu)
c.3988T>C (p.Phe1330Leu)
c.3937T>C (p.Phe1313Leu)
c.1069T>C (p.Phe357Leu)
18g.33743953T>GCA402190055ASXL3c.4108T>G (p.Phe1370Val)
c.4105T>G (p.Phe1369Val)
c.3985T>G (p.Phe1329Val)
c.4081T>G (p.Phe1361Val)
c.4027T>G (p.Phe1343Val)
c.3988T>G (p.Phe1330Val)
c.3937T>G (p.Phe1313Val)
c.1069T>G (p.Phe357Val)
18g.33743954T>ACA402190058ASXL3c.4109T>A (p.Phe1370Tyr)
c.4106T>A (p.Phe1369Tyr)
c.3986T>A (p.Phe1329Tyr)
c.4082T>A (p.Phe1361Tyr)
c.4028T>A (p.Phe1343Tyr)
c.3989T>A (p.Phe1330Tyr)
c.3938T>A (p.Phe1313Tyr)
c.1070T>A (p.Phe357Tyr)
18g.33743954T>CCA402190063ASXL3c.4109T>C (p.Phe1370Ser)
c.4106T>C (p.Phe1369Ser)
c.3986T>C (p.Phe1329Ser)
c.4082T>C (p.Phe1361Ser)
c.4028T>C (p.Phe1343Ser)
c.3989T>C (p.Phe1330Ser)
c.3938T>C (p.Phe1313Ser)
c.1070T>C (p.Phe357Ser)
18g.33743954T>GCA402190061ASXL3c.4109T>G (p.Phe1370Cys)
c.4106T>G (p.Phe1369Cys)
c.3986T>G (p.Phe1329Cys)
c.4082T>G (p.Phe1361Cys)
c.4028T>G (p.Phe1343Cys)
c.3989T>G (p.Phe1330Cys)
c.3938T>G (p.Phe1313Cys)
c.1070T>G (p.Phe357Cys)
18g.33743955T>ACA402190066ASXL3c.4110T>A (p.Phe1370Leu)
c.4107T>A (p.Phe1369Leu)
c.3987T>A (p.Phe1329Leu)
c.4083T>A (p.Phe1361Leu)
c.4029T>A (p.Phe1343Leu)
c.3990T>A (p.Phe1330Leu)
c.3939T>A (p.Phe1313Leu)
c.1071T>A (p.Phe357Leu)
18g.33743955T>CCA503770689ASXL3c.4110T>C (p.Phe1370=)
c.4107T>C (p.Phe1369=)
c.3987T>C (p.Phe1329=)
c.4083T>C (p.Phe1361=)
c.4029T>C (p.Phe1343=)
c.3990T>C (p.Phe1330=)
c.3939T>C (p.Phe1313=)
c.1071T>C (p.Phe357=)
18g.33743955T>GCA402190068ASXL3c.4110T>G (p.Phe1370Leu)
c.4107T>G (p.Phe1369Leu)
c.3987T>G (p.Phe1329Leu)
c.4083T>G (p.Phe1361Leu)
c.4029T>G (p.Phe1343Leu)
c.3990T>G (p.Phe1330Leu)
c.3939T>G (p.Phe1313Leu)
c.1071T>G (p.Phe357Leu)
 gnomAD v4
18g.33743956C>ACA402190071ASXL3c.4111C>A (p.Pro1371Thr)
c.4108C>A (p.Pro1370Thr)
c.3988C>A (p.Pro1330Thr)
c.4084C>A (p.Pro1362Thr)
c.4030C>A (p.Pro1344Thr)
c.3991C>A (p.Pro1331Thr)
c.3940C>A (p.Pro1314Thr)
c.1072C>A (p.Pro358Thr)
18g.33743956C=CA2294857918ASXL3c.4111C= (p.Pro1371=)
c.4108C= (p.Pro1370=)
c.3988C= (p.Pro1330=)
c.4084C= (p.Pro1362=)
c.4030C= (p.Pro1344=)
c.3991C= (p.Pro1331=)
c.3940C= (p.Pro1314=)
c.1072C= (p.Pro358=)
18g.33743956C>GCA402190073ASXL3c.4111C>G (p.Pro1371Ala)
c.4108C>G (p.Pro1370Ala)
c.3988C>G (p.Pro1330Ala)
c.4084C>G (p.Pro1362Ala)
c.4030C>G (p.Pro1344Ala)
c.3991C>G (p.Pro1331Ala)
c.3940C>G (p.Pro1314Ala)
c.1072C>G (p.Pro358Ala)
18g.33743956C>TCA402190075ASXL3c.4111C>T (p.Pro1371Ser)
c.4108C>T (p.Pro1370Ser)
c.3988C>T (p.Pro1330Ser)
c.4084C>T (p.Pro1362Ser)
c.4030C>T (p.Pro1344Ser)
c.3991C>T (p.Pro1331Ser)
c.3940C>T (p.Pro1314Ser)
c.1072C>T (p.Pro358Ser)
 dbSNP COSMIC
18g.33743957C>ACA402190078ASXL3c.4112C>A (p.Pro1371His)
c.4109C>A (p.Pro1370His)
c.3989C>A (p.Pro1330His)
c.4085C>A (p.Pro1362His)
c.4031C>A (p.Pro1344His)
c.3992C>A (p.Pro1331His)
c.3941C>A (p.Pro1314His)
c.1073C>A (p.Pro358His)
18g.33743957C>GCA402190080ASXL3c.4112C>G (p.Pro1371Arg)
c.4109C>G (p.Pro1370Arg)
c.3989C>G (p.Pro1330Arg)
c.4085C>G (p.Pro1362Arg)
c.4031C>G (p.Pro1344Arg)
c.3992C>G (p.Pro1331Arg)
c.3941C>G (p.Pro1314Arg)
c.1073C>G (p.Pro358Arg)
18g.33743957C>TCA402190082ASXL3c.4112C>T (p.Pro1371Leu)
c.4109C>T (p.Pro1370Leu)
c.3989C>T (p.Pro1330Leu)
c.4085C>T (p.Pro1362Leu)
c.4031C>T (p.Pro1344Leu)
c.3992C>T (p.Pro1331Leu)
c.3941C>T (p.Pro1314Leu)
c.1073C>T (p.Pro358Leu)
 gnomAD v4
18g.33743958T>ACA503769896ASXL3c.4113T>A (p.Pro1371=)
c.4110T>A (p.Pro1370=)
c.3990T>A (p.Pro1330=)
c.4086T>A (p.Pro1362=)
c.4032T>A (p.Pro1344=)
c.3993T>A (p.Pro1331=)
c.3942T>A (p.Pro1314=)
c.1074T>A (p.Pro358=)
18g.33743958T>CCA503769897ASXL3c.4113T>C (p.Pro1371=)
c.4110T>C (p.Pro1370=)
c.3990T>C (p.Pro1330=)
c.4086T>C (p.Pro1362=)
c.4032T>C (p.Pro1344=)
c.3993T>C (p.Pro1331=)
c.3942T>C (p.Pro1314=)
c.1074T>C (p.Pro358=)
18g.33743958T>GCA503769898ASXL3c.4113T>G (p.Pro1371=)
c.4110T>G (p.Pro1370=)
c.3990T>G (p.Pro1330=)
c.4086T>G (p.Pro1362=)
c.4032T>G (p.Pro1344=)
c.3993T>G (p.Pro1331=)
c.3942T>G (p.Pro1314=)
c.1074T>G (p.Pro358=)
18g.33743959T>ACA402190085ASXL3c.4114T>A (p.Ser1372Thr)
c.4111T>A (p.Ser1371Thr)
c.3991T>A (p.Ser1331Thr)
c.4087T>A (p.Ser1363Thr)
c.4033T>A (p.Ser1345Thr)
c.3994T>A (p.Ser1332Thr)
c.3943T>A (p.Ser1315Thr)
c.1075T>A (p.Ser359Thr)
18g.33743959T>CCA402190086ASXL3c.4114T>C (p.Ser1372Pro)
c.4111T>C (p.Ser1371Pro)
c.3991T>C (p.Ser1331Pro)
c.4087T>C (p.Ser1363Pro)
c.4033T>C (p.Ser1345Pro)
c.3994T>C (p.Ser1332Pro)
c.3943T>C (p.Ser1315Pro)
c.1075T>C (p.Ser359Pro)
18g.33743959T>GCA402190088ASXL3c.4114T>G (p.Ser1372Ala)
c.4111T>G (p.Ser1371Ala)
c.3991T>G (p.Ser1331Ala)
c.4087T>G (p.Ser1363Ala)
c.4033T>G (p.Ser1345Ala)
c.3994T>G (p.Ser1332Ala)
c.3943T>G (p.Ser1315Ala)
c.1075T>G (p.Ser359Ala)
18g.33743960C>ACA402190091ASXL3c.4115C>A (p.Ser1372Tyr)
c.4112C>A (p.Ser1371Tyr)
c.3992C>A (p.Ser1331Tyr)
c.4088C>A (p.Ser1363Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3944C>A (p.Ser1315Tyr)
c.1076C>A (p.Ser359Tyr)
 dbSNP
18g.33743960C=CA2294857919ASXL3c.4115C= (p.Ser1372=)
c.4112C= (p.Ser1371=)
c.3992C= (p.Ser1331=)
c.4088C= (p.Ser1363=)
c.4034C= (p.Ser1345=)
c.3995C= (p.Ser1332=)
c.3944C= (p.Ser1315=)
c.1076C= (p.Ser359=)
18g.33743960C>GCA402190095ASXL3c.4115C>G (p.Ser1372Cys)
c.4112C>G (p.Ser1371Cys)
c.3992C>G (p.Ser1331Cys)
c.4088C>G (p.Ser1363Cys)
c.4034C>G (p.Ser1345Cys)
c.3995C>G (p.Ser1332Cys)
c.3944C>G (p.Ser1315Cys)
c.1076C>G (p.Ser359Cys)
18g.33743960C>TCA402190093ASXL3c.4115C>T (p.Ser1372Phe)
c.4112C>T (p.Ser1371Phe)
c.3992C>T (p.Ser1331Phe)
c.4088C>T (p.Ser1363Phe)
c.4034C>T (p.Ser1345Phe)
c.3995C>T (p.Ser1332Phe)
c.3944C>T (p.Ser1315Phe)
c.1076C>T (p.Ser359Phe)
 dbSNP
18g.33743961T>ACA503769907ASXL3c.4116T>A (p.Ser1372=)
c.4113T>A (p.Ser1371=)
c.3993T>A (p.Ser1331=)
c.4089T>A (p.Ser1363=)
c.4035T>A (p.Ser1345=)
c.3996T>A (p.Ser1332=)
c.3945T>A (p.Ser1315=)
c.1077T>A (p.Ser359=)
18g.33743961T>CCA503769908ASXL3c.4116T>C (p.Ser1372=)
c.4113T>C (p.Ser1371=)
c.3993T>C (p.Ser1331=)
c.4089T>C (p.Ser1363=)
c.4035T>C (p.Ser1345=)
c.3996T>C (p.Ser1332=)
c.3945T>C (p.Ser1315=)
c.1077T>C (p.Ser359=)
18g.33743961T>GCA503769906ASXL3c.4116T>G (p.Ser1372=)
c.4113T>G (p.Ser1371=)
c.3993T>G (p.Ser1331=)
c.4089T>G (p.Ser1363=)
c.4035T>G (p.Ser1345=)
c.3996T>G (p.Ser1332=)
c.3945T>G (p.Ser1315=)
c.1077T>G (p.Ser359=)
18g.33743962G>ACA402190099ASXL3c.4117G>A (p.Glu1373Lys)
c.4114G>A (p.Glu1372Lys)
c.3994G>A (p.Glu1332Lys)
c.4090G>A (p.Glu1364Lys)
c.4036G>A (p.Glu1346Lys)
c.3997G>A (p.Glu1333Lys)
c.3946G>A (p.Glu1316Lys)
c.1078G>A (p.Glu360Lys)
18g.33743962G>CCA402190100ASXL3c.4117G>C (p.Glu1373Gln)
c.4114G>C (p.Glu1372Gln)
c.3994G>C (p.Glu1332Gln)
c.4090G>C (p.Glu1364Gln)
c.4036G>C (p.Glu1346Gln)
c.3997G>C (p.Glu1333Gln)
c.3946G>C (p.Glu1316Gln)
c.1078G>C (p.Glu360Gln)
18g.33743962G>TCA402190101ASXL3c.4117G>T (p.Glu1373Ter)
c.4114G>T (p.Glu1372Ter)
c.3994G>T (p.Glu1332Ter)
c.4090G>T (p.Glu1364Ter)
c.4036G>T (p.Glu1346Ter)
c.3997G>T (p.Glu1333Ter)
c.3946G>T (p.Glu1316Ter)
c.1078G>T (p.Glu360Ter)
18g.33743963A=CA2294857920ASXL3c.4118A= (p.Glu1373=)
c.4115A= (p.Glu1372=)
c.3995A= (p.Glu1332=)
c.4091A= (p.Glu1364=)
c.4037A= (p.Glu1346=)
c.3998A= (p.Glu1333=)
c.3947A= (p.Glu1316=)
c.1079A= (p.Glu360=)
18g.33743963A>CCA402190105ASXL3c.4118A>C (p.Glu1373Ala)
c.4115A>C (p.Glu1372Ala)
c.3995A>C (p.Glu1332Ala)
c.4091A>C (p.Glu1364Ala)
c.4037A>C (p.Glu1346Ala)
c.3998A>C (p.Glu1333Ala)
c.3947A>C (p.Glu1316Ala)
c.1079A>C (p.Glu360Ala)
18g.33743963A>GCA402190107ASXL3c.4118A>G (p.Glu1373Gly)
c.4115A>G (p.Glu1372Gly)
c.3995A>G (p.Glu1332Gly)
c.4091A>G (p.Glu1364Gly)
c.4037A>G (p.Glu1346Gly)
c.3998A>G (p.Glu1333Gly)
c.3947A>G (p.Glu1316Gly)
c.1079A>G (p.Glu360Gly)
18g.33743963A>TCA402190109ASXL3c.4118A>T (p.Glu1373Val)
c.4115A>T (p.Glu1372Val)
c.3995A>T (p.Glu1332Val)
c.4091A>T (p.Glu1364Val)
c.4037A>T (p.Glu1346Val)
c.3998A>T (p.Glu1333Val)
c.3947A>T (p.Glu1316Val)
c.1079A>T (p.Glu360Val)
 dbSNP
18g.33743964G>ACA503769914ASXL3c.4119G>A (p.Glu1373=)
c.4116G>A (p.Glu1372=)
c.3996G>A (p.Glu1332=)
c.4092G>A (p.Glu1364=)
c.4038G>A (p.Glu1346=)
c.3999G>A (p.Glu1333=)
c.3948G>A (p.Glu1316=)
c.1080G>A (p.Glu360=)
18g.33743964G>CCA402190112ASXL3c.4119G>C (p.Glu1373Asp)
c.4116G>C (p.Glu1372Asp)
c.3996G>C (p.Glu1332Asp)
c.4092G>C (p.Glu1364Asp)
c.4038G>C (p.Glu1346Asp)
c.3999G>C (p.Glu1333Asp)
c.3948G>C (p.Glu1316Asp)
c.1080G>C (p.Glu360Asp)
18g.33743964G>TCA402190114ASXL3c.4119G>T (p.Glu1373Asp)
c.4116G>T (p.Glu1372Asp)
c.3996G>T (p.Glu1332Asp)
c.4092G>T (p.Glu1364Asp)
c.4038G>T (p.Glu1346Asp)
c.3999G>T (p.Glu1333Asp)
c.3948G>T (p.Glu1316Asp)
c.1080G>T (p.Glu360Asp)
18g.33743965A=CA2294857921ASXL3c.4120A= (p.Lys1374=)
c.4117A= (p.Lys1373=)
c.3997A= (p.Lys1333=)
c.4093A= (p.Lys1365=)
c.4039A= (p.Lys1347=)
c.4000A= (p.Lys1334=)
c.3949A= (p.Lys1317=)
c.1081A= (p.Lys361=)
18g.33743965A>CCA402190116ASXL3c.4120A>C (p.Lys1374Gln)
c.4117A>C (p.Lys1373Gln)
c.3997A>C (p.Lys1333Gln)
c.4093A>C (p.Lys1365Gln)
c.4039A>C (p.Lys1347Gln)
c.4000A>C (p.Lys1334Gln)
c.3949A>C (p.Lys1317Gln)
c.1081A>C (p.Lys361Gln)
18g.33743965A>GCA8934174ASXL3c.4120A>G (p.Lys1374Glu)
c.4117A>G (p.Lys1373Glu)
c.3997A>G (p.Lys1333Glu)
c.4093A>G (p.Lys1365Glu)
c.4039A>G (p.Lys1347Glu)
c.4000A>G (p.Lys1334Glu)
c.3949A>G (p.Lys1317Glu)
c.1081A>G (p.Lys361Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743965A>TCA402190119ASXL3c.4120A>T (p.Lys1374Ter)
c.4117A>T (p.Lys1373Ter)
c.3997A>T (p.Lys1333Ter)
c.4093A>T (p.Lys1365Ter)
c.4039A>T (p.Lys1347Ter)
c.4000A>T (p.Lys1334Ter)
c.3949A>T (p.Lys1317Ter)
c.1081A>T (p.Lys361Ter)
18g.33743966A=CA2294857922ASXL3c.4121A= (p.Lys1374=)
c.4118A= (p.Lys1373=)
c.3998A= (p.Lys1333=)
c.4094A= (p.Lys1365=)
c.4040A= (p.Lys1347=)
c.4001A= (p.Lys1334=)
c.3950A= (p.Lys1317=)
c.1082A= (p.Lys361=)
18g.33743966A>CCA402190127ASXL3c.4121A>C (p.Lys1374Thr)
c.4118A>C (p.Lys1373Thr)
c.3998A>C (p.Lys1333Thr)
c.4094A>C (p.Lys1365Thr)
c.4040A>C (p.Lys1347Thr)
c.4001A>C (p.Lys1334Thr)
c.3950A>C (p.Lys1317Thr)
c.1082A>C (p.Lys361Thr)
18g.33743966A>GCA402190125ASXL3c.4121A>G (p.Lys1374Arg)
c.4118A>G (p.Lys1373Arg)
c.3998A>G (p.Lys1333Arg)
c.4094A>G (p.Lys1365Arg)
c.4040A>G (p.Lys1347Arg)
c.4001A>G (p.Lys1334Arg)
c.3950A>G (p.Lys1317Arg)
c.1082A>G (p.Lys361Arg)
18g.33743966A>TCA402190123ASXL3c.4121A>T (p.Lys1374Met)
c.4118A>T (p.Lys1373Met)
c.3998A>T (p.Lys1333Met)
c.4094A>T (p.Lys1365Met)
c.4040A>T (p.Lys1347Met)
c.4001A>T (p.Lys1334Met)
c.3950A>T (p.Lys1317Met)
c.1082A>T (p.Lys361Met)
18g.33743968_33743971dupCA2499225137ASXL3c.4123_4126dup (p.Ala1376AspfsTer7)
c.4120_4123dup (p.Ala1375AspfsTer7)
c.4000_4003dup (p.Ala1335AspfsTer7)
c.4096_4099dup (p.Ala1367AspfsTer7)
c.4042_4045dup (p.Ala1349AspfsTer7)
c.4003_4006dup (p.Ala1336AspfsTer7)
c.3952_3955dup (p.Ala1319AspfsTer7)
c.1084_1087dup (p.Ala363AspfsTer7)
 ClinVar dbSNP
18g.33743967G>ACA503769924ASXL3c.4122G>A (p.Lys1374=)
c.4119G>A (p.Lys1373=)
c.3999G>A (p.Lys1333=)
c.4095G>A (p.Lys1365=)
c.4041G>A (p.Lys1347=)
c.4002G>A (p.Lys1334=)
c.3951G>A (p.Lys1317=)
c.1083G>A (p.Lys361=)
18g.33743967G>CCA402190132ASXL3c.4122G>C (p.Lys1374Asn)
c.4119G>C (p.Lys1373Asn)
c.3999G>C (p.Lys1333Asn)
c.4095G>C (p.Lys1365Asn)
c.4041G>C (p.Lys1347Asn)
c.4002G>C (p.Lys1334Asn)
c.3951G>C (p.Lys1317Asn)
c.1083G>C (p.Lys361Asn)
18g.33743967G=CA2294857923ASXL3c.4122G= (p.Lys1374=)
c.4119G= (p.Lys1373=)
c.3999G= (p.Lys1333=)
c.4095G= (p.Lys1365=)
c.4041G= (p.Lys1347=)
c.4002G= (p.Lys1334=)
c.3951G= (p.Lys1317=)
c.1083G= (p.Lys361=)
18g.33743967G>TCA8934176ASXL3c.4122G>T (p.Lys1374Asn)
c.4119G>T (p.Lys1373Asn)
c.3999G>T (p.Lys1333Asn)
c.4095G>T (p.Lys1365Asn)
c.4041G>T (p.Lys1347Asn)
c.4002G>T (p.Lys1334Asn)
c.3951G>T (p.Lys1317Asn)
c.1083G>T (p.Lys361Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33743967_33743969dupCA8934175ASXL3c.4122_4124dup (p.Lys1374_Ile1375insMet)
c.4119_4121dup (p.Lys1373_Ile1374insMet)
c.3999_4001dup (p.Lys1333_Ile1334insMet)
c.4095_4097dup (p.Lys1365_Ile1366insMet)
c.4041_4043dup (p.Lys1347_Ile1348insMet)
c.4002_4004dup (p.Lys1334_Ile1335insMet)
c.3951_3953dup (p.Lys1317_Ile1318insMet)
c.1083_1085dup (p.Lys361_Ile362insMet)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33743968A>CCA402190137ASXL3c.4123A>C (p.Ile1375Leu)
c.4120A>C (p.Ile1374Leu)
c.4000A>C (p.Ile1334Leu)
c.4096A>C (p.Ile1366Leu)
c.4042A>C (p.Ile1348Leu)
c.4003A>C (p.Ile1335Leu)
c.3952A>C (p.Ile1318Leu)
c.1084A>C (p.Ile362Leu)
18g.33743968A>GCA402190139ASXL3c.4123A>G (p.Ile1375Val)
c.4120A>G (p.Ile1374Val)
c.4000A>G (p.Ile1334Val)
c.4096A>G (p.Ile1366Val)
c.4042A>G (p.Ile1348Val)
c.4003A>G (p.Ile1335Val)
c.3952A>G (p.Ile1318Val)
c.1084A>G (p.Ile362Val)
18g.33743968A>TCA402190141ASXL3c.4123A>T (p.Ile1375Leu)
c.4120A>T (p.Ile1374Leu)
c.4000A>T (p.Ile1334Leu)
c.4096A>T (p.Ile1366Leu)
c.4042A>T (p.Ile1348Leu)
c.4003A>T (p.Ile1335Leu)
c.3952A>T (p.Ile1318Leu)
c.1084A>T (p.Ile362Leu)
 ClinVar dbSNP

Number of alleles fetched