Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33744270C>A | CA503770292 | ASXL3 | c.4425C>A (p.Ile1475=) c.4422C>A (p.Ile1474=) c.4302C>A (p.Ile1434=) c.4398C>A (p.Ile1466=) c.4344C>A (p.Ile1448=) c.4305C>A (p.Ile1435=) c.4254C>A (p.Ile1418=) c.1386C>A (p.Ile462=) | dbSNP |
18 | g.33744270C= | CA2294858069 | ASXL3 | c.4425C= (p.Ile1475=) c.4422C= (p.Ile1474=) c.4302C= (p.Ile1434=) c.4398C= (p.Ile1466=) c.4344C= (p.Ile1448=) c.4305C= (p.Ile1435=) c.4254C= (p.Ile1418=) c.1386C= (p.Ile462=) | |
18 | g.33744270C>G | CA402190875 | ASXL3 | c.4425C>G (p.Ile1475Met) c.4422C>G (p.Ile1474Met) c.4302C>G (p.Ile1434Met) c.4398C>G (p.Ile1466Met) c.4344C>G (p.Ile1448Met) c.4305C>G (p.Ile1435Met) c.4254C>G (p.Ile1418Met) c.1386C>G (p.Ile462Met) | |
18 | g.33744270C>T | CA503770296 | ASXL3 | c.4425C>T (p.Ile1475=) c.4422C>T (p.Ile1474=) c.4302C>T (p.Ile1434=) c.4398C>T (p.Ile1466=) c.4344C>T (p.Ile1448=) c.4305C>T (p.Ile1435=) c.4254C>T (p.Ile1418=) c.1386C>T (p.Ile462=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744271G>A | CA8934259 | ASXL3 | c.4426G>A (p.Val1476Ile) c.4423G>A (p.Val1475Ile) c.4303G>A (p.Val1435Ile) c.4399G>A (p.Val1467Ile) c.4345G>A (p.Val1449Ile) c.4306G>A (p.Val1436Ile) c.4255G>A (p.Val1419Ile) c.1387G>A (p.Val463Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744271G>C | CA402190876 | ASXL3 | c.4426G>C (p.Val1476Leu) c.4423G>C (p.Val1475Leu) c.4303G>C (p.Val1435Leu) c.4399G>C (p.Val1467Leu) c.4345G>C (p.Val1449Leu) c.4306G>C (p.Val1436Leu) c.4255G>C (p.Val1419Leu) c.1387G>C (p.Val463Leu) | |
18 | g.33744271G= | CA2294858070 | ASXL3 | c.4426G= (p.Val1476=) c.4423G= (p.Val1475=) c.4303G= (p.Val1435=) c.4399G= (p.Val1467=) c.4345G= (p.Val1449=) c.4306G= (p.Val1436=) c.4255G= (p.Val1419=) c.1387G= (p.Val463=) | |
18 | g.33744271G>T | CA402190877 | ASXL3 | c.4426G>T (p.Val1476Phe) c.4423G>T (p.Val1475Phe) c.4303G>T (p.Val1435Phe) c.4399G>T (p.Val1467Phe) c.4345G>T (p.Val1449Phe) c.4306G>T (p.Val1436Phe) c.4255G>T (p.Val1419Phe) c.1387G>T (p.Val463Phe) | |
18 | g.33744272T>A | CA402190878 | ASXL3 | c.4427T>A (p.Val1476Asp) c.4424T>A (p.Val1475Asp) c.4304T>A (p.Val1435Asp) c.4400T>A (p.Val1467Asp) c.4346T>A (p.Val1449Asp) c.4307T>A (p.Val1436Asp) c.4256T>A (p.Val1419Asp) c.1388T>A (p.Val463Asp) | COSMIC |
18 | g.33744272T>C | CA402190879 | ASXL3 | c.4427T>C (p.Val1476Ala) c.4424T>C (p.Val1475Ala) c.4304T>C (p.Val1435Ala) c.4400T>C (p.Val1467Ala) c.4346T>C (p.Val1449Ala) c.4307T>C (p.Val1436Ala) c.4256T>C (p.Val1419Ala) c.1388T>C (p.Val463Ala) | gnomAD v4 |
18 | g.33744272T>G | CA402190880 | ASXL3 | c.4427T>G (p.Val1476Gly) c.4424T>G (p.Val1475Gly) c.4304T>G (p.Val1435Gly) c.4400T>G (p.Val1467Gly) c.4346T>G (p.Val1449Gly) c.4307T>G (p.Val1436Gly) c.4256T>G (p.Val1419Gly) c.1388T>G (p.Val463Gly) | |
18 | g.33744273T>A | CA503770301 | ASXL3 | c.4428T>A (p.Val1476=) c.4425T>A (p.Val1475=) c.4305T>A (p.Val1435=) c.4401T>A (p.Val1467=) c.4347T>A (p.Val1449=) c.4308T>A (p.Val1436=) c.4257T>A (p.Val1419=) c.1389T>A (p.Val463=) | |
18 | g.33744273T>C | CA503770303 | ASXL3 | c.4428T>C (p.Val1476=) c.4425T>C (p.Val1475=) c.4305T>C (p.Val1435=) c.4401T>C (p.Val1467=) c.4347T>C (p.Val1449=) c.4308T>C (p.Val1436=) c.4257T>C (p.Val1419=) c.1389T>C (p.Val463=) | |
18 | g.33744273T>G | CA503770305 | ASXL3 | c.4428T>G (p.Val1476=) c.4425T>G (p.Val1475=) c.4305T>G (p.Val1435=) c.4401T>G (p.Val1467=) c.4347T>G (p.Val1449=) c.4308T>G (p.Val1436=) c.4257T>G (p.Val1419=) c.1389T>G (p.Val463=) | |
18 | g.33744274G>A | CA402190881 | ASXL3 | c.4429G>A (p.Asp1477Asn) c.4426G>A (p.Asp1476Asn) c.4306G>A (p.Asp1436Asn) c.4402G>A (p.Asp1468Asn) c.4348G>A (p.Asp1450Asn) c.4309G>A (p.Asp1437Asn) c.4258G>A (p.Asp1420Asn) c.1390G>A (p.Asp464Asn) | |
18 | g.33744274G>C | CA402190882 | ASXL3 | c.4429G>C (p.Asp1477His) c.4426G>C (p.Asp1476His) c.4306G>C (p.Asp1436His) c.4402G>C (p.Asp1468His) c.4348G>C (p.Asp1450His) c.4309G>C (p.Asp1437His) c.4258G>C (p.Asp1420His) c.1390G>C (p.Asp464His) | |
18 | g.33744274G>T | CA402190883 | ASXL3 | c.4429G>T (p.Asp1477Tyr) c.4426G>T (p.Asp1476Tyr) c.4306G>T (p.Asp1436Tyr) c.4402G>T (p.Asp1468Tyr) c.4348G>T (p.Asp1450Tyr) c.4309G>T (p.Asp1437Tyr) c.4258G>T (p.Asp1420Tyr) c.1390G>T (p.Asp464Tyr) | |
18 | g.33744275A>C | CA402190885 | ASXL3 | c.4430A>C (p.Asp1477Ala) c.4427A>C (p.Asp1476Ala) c.4307A>C (p.Asp1436Ala) c.4403A>C (p.Asp1468Ala) c.4349A>C (p.Asp1450Ala) c.4310A>C (p.Asp1437Ala) c.4259A>C (p.Asp1420Ala) c.1391A>C (p.Asp464Ala) | |
18 | g.33744275A>G | CA402190886 | ASXL3 | c.4430A>G (p.Asp1477Gly) c.4427A>G (p.Asp1476Gly) c.4307A>G (p.Asp1436Gly) c.4403A>G (p.Asp1468Gly) c.4349A>G (p.Asp1450Gly) c.4310A>G (p.Asp1437Gly) c.4259A>G (p.Asp1420Gly) c.1391A>G (p.Asp464Gly) | |
18 | g.33744275A>T | CA402190884 | ASXL3 | c.4430A>T (p.Asp1477Val) c.4427A>T (p.Asp1476Val) c.4307A>T (p.Asp1436Val) c.4403A>T (p.Asp1468Val) c.4349A>T (p.Asp1450Val) c.4310A>T (p.Asp1437Val) c.4259A>T (p.Asp1420Val) c.1391A>T (p.Asp464Val) | |
18 | g.33744276C>A | CA402190887 | ASXL3 | c.4431C>A (p.Asp1477Glu) c.4428C>A (p.Asp1476Glu) c.4308C>A (p.Asp1436Glu) c.4404C>A (p.Asp1468Glu) c.4350C>A (p.Asp1450Glu) c.4311C>A (p.Asp1437Glu) c.4260C>A (p.Asp1420Glu) c.1392C>A (p.Asp464Glu) | |
18 | g.33744276C>G | CA402190888 | ASXL3 | c.4431C>G (p.Asp1477Glu) c.4428C>G (p.Asp1476Glu) c.4308C>G (p.Asp1436Glu) c.4404C>G (p.Asp1468Glu) c.4350C>G (p.Asp1450Glu) c.4311C>G (p.Asp1437Glu) c.4260C>G (p.Asp1420Glu) c.1392C>G (p.Asp464Glu) | |
18 | g.33744276C>T | CA503770310 | ASXL3 | c.4431C>T (p.Asp1477=) c.4428C>T (p.Asp1476=) c.4308C>T (p.Asp1436=) c.4404C>T (p.Asp1468=) c.4350C>T (p.Asp1450=) c.4311C>T (p.Asp1437=) c.4260C>T (p.Asp1420=) c.1392C>T (p.Asp464=) | |
18 | g.33744277C>A | CA402190889 | ASXL3 | c.4432C>A (p.His1478Asn) c.4429C>A (p.His1477Asn) c.4309C>A (p.His1437Asn) c.4405C>A (p.His1469Asn) c.4351C>A (p.His1451Asn) c.4312C>A (p.His1438Asn) c.4261C>A (p.His1421Asn) c.1393C>A (p.His465Asn) | |
18 | g.33744277C>G | CA402190890 | ASXL3 | c.4432C>G (p.His1478Asp) c.4429C>G (p.His1477Asp) c.4309C>G (p.His1437Asp) c.4405C>G (p.His1469Asp) c.4351C>G (p.His1451Asp) c.4312C>G (p.His1438Asp) c.4261C>G (p.His1421Asp) c.1393C>G (p.His465Asp) | |
18 | g.33744277C>T | CA402190891 | ASXL3 | c.4432C>T (p.His1478Tyr) c.4429C>T (p.His1477Tyr) c.4309C>T (p.His1437Tyr) c.4405C>T (p.His1469Tyr) c.4351C>T (p.His1451Tyr) c.4312C>T (p.His1438Tyr) c.4261C>T (p.His1421Tyr) c.1393C>T (p.His465Tyr) | COSMIC |
18 | g.33744278A>C | CA402190892 | ASXL3 | c.4433A>C (p.His1478Pro) c.4430A>C (p.His1477Pro) c.4310A>C (p.His1437Pro) c.4406A>C (p.His1469Pro) c.4352A>C (p.His1451Pro) c.4313A>C (p.His1438Pro) c.4262A>C (p.His1421Pro) c.1394A>C (p.His465Pro) | |
18 | g.33744278A>G | CA402190893 | ASXL3 | c.4433A>G (p.His1478Arg) c.4430A>G (p.His1477Arg) c.4310A>G (p.His1437Arg) c.4406A>G (p.His1469Arg) c.4352A>G (p.His1451Arg) c.4313A>G (p.His1438Arg) c.4262A>G (p.His1421Arg) c.1394A>G (p.His465Arg) | |
18 | g.33744278A>T | CA402190894 | ASXL3 | c.4433A>T (p.His1478Leu) c.4430A>T (p.His1477Leu) c.4310A>T (p.His1437Leu) c.4406A>T (p.His1469Leu) c.4352A>T (p.His1451Leu) c.4313A>T (p.His1438Leu) c.4262A>T (p.His1421Leu) c.1394A>T (p.His465Leu) | |
18 | g.33744279C>A | CA402190895 | ASXL3 | c.4434C>A (p.His1478Gln) c.4431C>A (p.His1477Gln) c.4311C>A (p.His1437Gln) c.4407C>A (p.His1469Gln) c.4353C>A (p.His1451Gln) c.4314C>A (p.His1438Gln) c.4263C>A (p.His1421Gln) c.1395C>A (p.His465Gln) | |
18 | g.33744279C>G | CA402190896 | ASXL3 | c.4434C>G (p.His1478Gln) c.4431C>G (p.His1477Gln) c.4311C>G (p.His1437Gln) c.4407C>G (p.His1469Gln) c.4353C>G (p.His1451Gln) c.4314C>G (p.His1438Gln) c.4263C>G (p.His1421Gln) c.1395C>G (p.His465Gln) | |
18 | g.33744279C>T | CA503770320 | ASXL3 | c.4434C>T (p.His1478=) c.4431C>T (p.His1477=) c.4311C>T (p.His1437=) c.4407C>T (p.His1469=) c.4353C>T (p.His1451=) c.4314C>T (p.His1438=) c.4263C>T (p.His1421=) c.1395C>T (p.His465=) | gnomAD v4 |
18 | g.33744280A>C | CA402190897 | ASXL3 | c.4435A>C (p.Ser1479Arg) c.4432A>C (p.Ser1478Arg) c.4312A>C (p.Ser1438Arg) c.4408A>C (p.Ser1470Arg) c.4354A>C (p.Ser1452Arg) c.4315A>C (p.Ser1439Arg) c.4264A>C (p.Ser1422Arg) c.1396A>C (p.Ser466Arg) | |
18 | g.33744280A>G | CA402190898 | ASXL3 | c.4435A>G (p.Ser1479Gly) c.4432A>G (p.Ser1478Gly) c.4312A>G (p.Ser1438Gly) c.4408A>G (p.Ser1470Gly) c.4354A>G (p.Ser1452Gly) c.4315A>G (p.Ser1439Gly) c.4264A>G (p.Ser1422Gly) c.1396A>G (p.Ser466Gly) | |
18 | g.33744280A>T | CA402190899 | ASXL3 | c.4435A>T (p.Ser1479Cys) c.4432A>T (p.Ser1478Cys) c.4312A>T (p.Ser1438Cys) c.4408A>T (p.Ser1470Cys) c.4354A>T (p.Ser1452Cys) c.4315A>T (p.Ser1439Cys) c.4264A>T (p.Ser1422Cys) c.1396A>T (p.Ser466Cys) | COSMIC |
18 | g.33744281G>A | CA402190902 | ASXL3 | c.4436G>A (p.Ser1479Asn) c.4433G>A (p.Ser1478Asn) c.4313G>A (p.Ser1438Asn) c.4409G>A (p.Ser1470Asn) c.4355G>A (p.Ser1452Asn) c.4316G>A (p.Ser1439Asn) c.4265G>A (p.Ser1422Asn) c.1397G>A (p.Ser466Asn) | |
18 | g.33744281G>C | CA402190901 | ASXL3 | c.4436G>C (p.Ser1479Thr) c.4433G>C (p.Ser1478Thr) c.4313G>C (p.Ser1438Thr) c.4409G>C (p.Ser1470Thr) c.4355G>C (p.Ser1452Thr) c.4316G>C (p.Ser1439Thr) c.4265G>C (p.Ser1422Thr) c.1397G>C (p.Ser466Thr) | |
18 | g.33744281G>T | CA402190900 | ASXL3 | c.4436G>T (p.Ser1479Ile) c.4433G>T (p.Ser1478Ile) c.4313G>T (p.Ser1438Ile) c.4409G>T (p.Ser1470Ile) c.4355G>T (p.Ser1452Ile) c.4316G>T (p.Ser1439Ile) c.4265G>T (p.Ser1422Ile) c.1397G>T (p.Ser466Ile) | |
18 | g.33744282C>A | CA402190903 | ASXL3 | c.4437C>A (p.Ser1479Arg) c.4434C>A (p.Ser1478Arg) c.4314C>A (p.Ser1438Arg) c.4410C>A (p.Ser1470Arg) c.4356C>A (p.Ser1452Arg) c.4317C>A (p.Ser1439Arg) c.4266C>A (p.Ser1422Arg) c.1398C>A (p.Ser466Arg) | |
18 | g.33744282C= | CA2294858071 | ASXL3 | c.4437C= (p.Ser1479=) c.4434C= (p.Ser1478=) c.4314C= (p.Ser1438=) c.4410C= (p.Ser1470=) c.4356C= (p.Ser1452=) c.4317C= (p.Ser1439=) c.4266C= (p.Ser1422=) c.1398C= (p.Ser466=) | |
18 | g.33744282C>G | CA402190904 | ASXL3 | c.4437C>G (p.Ser1479Arg) c.4434C>G (p.Ser1478Arg) c.4314C>G (p.Ser1438Arg) c.4410C>G (p.Ser1470Arg) c.4356C>G (p.Ser1452Arg) c.4317C>G (p.Ser1439Arg) c.4266C>G (p.Ser1422Arg) c.1398C>G (p.Ser466Arg) | |
18 | g.33744282C>T | CA8934260 | ASXL3 | c.4437C>T (p.Ser1479=) c.4434C>T (p.Ser1478=) c.4314C>T (p.Ser1438=) c.4410C>T (p.Ser1470=) c.4356C>T (p.Ser1452=) c.4317C>T (p.Ser1439=) c.4266C>T (p.Ser1422=) c.1398C>T (p.Ser466=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744283A= | CA2294858072 | ASXL3 | c.4438A= (p.Thr1480=) c.4435A= (p.Thr1479=) c.4315A= (p.Thr1439=) c.4411A= (p.Thr1471=) c.4357A= (p.Thr1453=) c.4318A= (p.Thr1440=) c.4267A= (p.Thr1423=) c.1399A= (p.Thr467=) | |
18 | g.33744283A>C | CA402190905 | ASXL3 | c.4438A>C (p.Thr1480Pro) c.4435A>C (p.Thr1479Pro) c.4315A>C (p.Thr1439Pro) c.4411A>C (p.Thr1471Pro) c.4357A>C (p.Thr1453Pro) c.4318A>C (p.Thr1440Pro) c.4267A>C (p.Thr1423Pro) c.1399A>C (p.Thr467Pro) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744283A>G | CA402190906 | ASXL3 | c.4438A>G (p.Thr1480Ala) c.4435A>G (p.Thr1479Ala) c.4315A>G (p.Thr1439Ala) c.4411A>G (p.Thr1471Ala) c.4357A>G (p.Thr1453Ala) c.4318A>G (p.Thr1440Ala) c.4267A>G (p.Thr1423Ala) c.1399A>G (p.Thr467Ala) | |
18 | g.33744283A>T | CA402190907 | ASXL3 | c.4438A>T (p.Thr1480Ser) c.4435A>T (p.Thr1479Ser) c.4315A>T (p.Thr1439Ser) c.4411A>T (p.Thr1471Ser) c.4357A>T (p.Thr1453Ser) c.4318A>T (p.Thr1440Ser) c.4267A>T (p.Thr1423Ser) c.1399A>T (p.Thr467Ser) | |
18 | g.33744284C>A | CA402190908 | ASXL3 | c.4439C>A (p.Thr1480Asn) c.4436C>A (p.Thr1479Asn) c.4316C>A (p.Thr1439Asn) c.4412C>A (p.Thr1471Asn) c.4358C>A (p.Thr1453Asn) c.4319C>A (p.Thr1440Asn) c.4268C>A (p.Thr1423Asn) c.1400C>A (p.Thr467Asn) | dbSNP gnomAD v2 |
18 | g.33744284C= | CA2294858073 | ASXL3 | c.4439C= (p.Thr1480=) c.4436C= (p.Thr1479=) c.4316C= (p.Thr1439=) c.4412C= (p.Thr1471=) c.4358C= (p.Thr1453=) c.4319C= (p.Thr1440=) c.4268C= (p.Thr1423=) c.1400C= (p.Thr467=) | |
18 | g.33744284C>G | CA402190909 | ASXL3 | c.4439C>G (p.Thr1480Ser) c.4436C>G (p.Thr1479Ser) c.4316C>G (p.Thr1439Ser) c.4412C>G (p.Thr1471Ser) c.4358C>G (p.Thr1453Ser) c.4319C>G (p.Thr1440Ser) c.4268C>G (p.Thr1423Ser) c.1400C>G (p.Thr467Ser) | gnomAD v4 |
18 | g.33744284C>T | CA402190910 | ASXL3 | c.4439C>T (p.Thr1480Ile) c.4436C>T (p.Thr1479Ile) c.4316C>T (p.Thr1439Ile) c.4412C>T (p.Thr1471Ile) c.4358C>T (p.Thr1453Ile) c.4319C>T (p.Thr1440Ile) c.4268C>T (p.Thr1423Ile) c.1400C>T (p.Thr467Ile) | |
18 | g.33744285C>A | CA503770332 | ASXL3 | c.4440C>A (p.Thr1480=) c.4437C>A (p.Thr1479=) c.4317C>A (p.Thr1439=) c.4413C>A (p.Thr1471=) c.4359C>A (p.Thr1453=) c.4320C>A (p.Thr1440=) c.4269C>A (p.Thr1423=) c.1401C>A (p.Thr467=) | |
18 | g.33744285C>G | CA503770331 | ASXL3 | c.4440C>G (p.Thr1480=) c.4437C>G (p.Thr1479=) c.4317C>G (p.Thr1439=) c.4413C>G (p.Thr1471=) c.4359C>G (p.Thr1453=) c.4320C>G (p.Thr1440=) c.4269C>G (p.Thr1423=) c.1401C>G (p.Thr467=) | |
18 | g.33744285C>T | CA503770329 | ASXL3 | c.4440C>T (p.Thr1480=) c.4437C>T (p.Thr1479=) c.4317C>T (p.Thr1439=) c.4413C>T (p.Thr1471=) c.4359C>T (p.Thr1453=) c.4320C>T (p.Thr1440=) c.4269C>T (p.Thr1423=) c.1401C>T (p.Thr467=) | |
18 | g.33744286A>C | CA402190911 | ASXL3 | c.4441A>C (p.Thr1481Pro) c.4438A>C (p.Thr1480Pro) c.4318A>C (p.Thr1440Pro) c.4414A>C (p.Thr1472Pro) c.4360A>C (p.Thr1454Pro) c.4321A>C (p.Thr1441Pro) c.4270A>C (p.Thr1424Pro) c.1402A>C (p.Thr468Pro) | gnomAD v4 |
18 | g.33744286A>G | CA402190912 | ASXL3 | c.4441A>G (p.Thr1481Ala) c.4438A>G (p.Thr1480Ala) c.4318A>G (p.Thr1440Ala) c.4414A>G (p.Thr1472Ala) c.4360A>G (p.Thr1454Ala) c.4321A>G (p.Thr1441Ala) c.4270A>G (p.Thr1424Ala) c.1402A>G (p.Thr468Ala) | |
18 | g.33744286A>T | CA402190913 | ASXL3 | c.4441A>T (p.Thr1481Ser) c.4438A>T (p.Thr1480Ser) c.4318A>T (p.Thr1440Ser) c.4414A>T (p.Thr1472Ser) c.4360A>T (p.Thr1454Ser) c.4321A>T (p.Thr1441Ser) c.4270A>T (p.Thr1424Ser) c.1402A>T (p.Thr468Ser) | COSMIC |
18 | g.33744287C>A | CA402190915 | ASXL3 | c.4442C>A (p.Thr1481Lys) c.4439C>A (p.Thr1480Lys) c.4319C>A (p.Thr1440Lys) c.4415C>A (p.Thr1472Lys) c.4361C>A (p.Thr1454Lys) c.4322C>A (p.Thr1441Lys) c.4271C>A (p.Thr1424Lys) c.1403C>A (p.Thr468Lys) | gnomAD v4 |
18 | g.33744287C= | CA2294858074 | ASXL3 | c.4442C= (p.Thr1481=) c.4439C= (p.Thr1480=) c.4319C= (p.Thr1440=) c.4415C= (p.Thr1472=) c.4361C= (p.Thr1454=) c.4322C= (p.Thr1441=) c.4271C= (p.Thr1424=) c.1403C= (p.Thr468=) | |
18 | g.33744287C>G | CA402190914 | ASXL3 | c.4442C>G (p.Thr1481Arg) c.4439C>G (p.Thr1480Arg) c.4319C>G (p.Thr1440Arg) c.4415C>G (p.Thr1472Arg) c.4361C>G (p.Thr1454Arg) c.4322C>G (p.Thr1441Arg) c.4271C>G (p.Thr1424Arg) c.1403C>G (p.Thr468Arg) | |
18 | g.33744287C>T | CA8934261 | ASXL3 | c.4442C>T (p.Thr1481Met) c.4439C>T (p.Thr1480Met) c.4319C>T (p.Thr1440Met) c.4415C>T (p.Thr1472Met) c.4361C>T (p.Thr1454Met) c.4322C>T (p.Thr1441Met) c.4271C>T (p.Thr1424Met) c.1403C>T (p.Thr468Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744288G>A | CA8934262 | ASXL3 | c.4443G>A (p.Thr1481=) c.4440G>A (p.Thr1480=) c.4320G>A (p.Thr1440=) c.4416G>A (p.Thr1472=) c.4362G>A (p.Thr1454=) c.4323G>A (p.Thr1441=) c.4272G>A (p.Thr1424=) c.1404G>A (p.Thr468=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744288G>C | CA503770336 | ASXL3 | c.4443G>C (p.Thr1481=) c.4440G>C (p.Thr1480=) c.4320G>C (p.Thr1440=) c.4416G>C (p.Thr1472=) c.4362G>C (p.Thr1454=) c.4323G>C (p.Thr1441=) c.4272G>C (p.Thr1424=) c.1404G>C (p.Thr468=) | |
18 | g.33744288G= | CA2294858075 | ASXL3 | c.4443G= (p.Thr1481=) c.4440G= (p.Thr1480=) c.4320G= (p.Thr1440=) c.4416G= (p.Thr1472=) c.4362G= (p.Thr1454=) c.4323G= (p.Thr1441=) c.4272G= (p.Thr1424=) c.1404G= (p.Thr468=) | |
18 | g.33744288G>T | CA503770338 | ASXL3 | c.4443G>T (p.Thr1481=) c.4440G>T (p.Thr1480=) c.4320G>T (p.Thr1440=) c.4416G>T (p.Thr1472=) c.4362G>T (p.Thr1454=) c.4323G>T (p.Thr1441=) c.4272G>T (p.Thr1424=) c.1404G>T (p.Thr468=) | gnomAD v4 |
18 | g.33744289C>A | CA402190916 | ASXL3 | c.4444C>A (p.Leu1482Met) c.4441C>A (p.Leu1481Met) c.4321C>A (p.Leu1441Met) c.4417C>A (p.Leu1473Met) c.4363C>A (p.Leu1455Met) c.4324C>A (p.Leu1442Met) c.4273C>A (p.Leu1425Met) c.1405C>A (p.Leu469Met) | |
18 | g.33744289C>G | CA402190917 | ASXL3 | c.4444C>G (p.Leu1482Val) c.4441C>G (p.Leu1481Val) c.4321C>G (p.Leu1441Val) c.4417C>G (p.Leu1473Val) c.4363C>G (p.Leu1455Val) c.4324C>G (p.Leu1442Val) c.4273C>G (p.Leu1425Val) c.1405C>G (p.Leu469Val) | |
18 | g.33744289C>T | CA503770342 | ASXL3 | c.4444C>T (p.Leu1482=) c.4441C>T (p.Leu1481=) c.4321C>T (p.Leu1441=) c.4417C>T (p.Leu1473=) c.4363C>T (p.Leu1455=) c.4324C>T (p.Leu1442=) c.4273C>T (p.Leu1425=) c.1405C>T (p.Leu469=) | |
18 | g.33744289dup | CA2695227408 | ASXL3 | c.4444dup (p.Leu1482ProfsTer12) c.4441dup (p.Leu1481ProfsTer12) c.4321dup (p.Leu1441ProfsTer12) c.4417dup (p.Leu1473ProfsTer12) c.4363dup (p.Leu1455ProfsTer12) c.4324dup (p.Leu1442ProfsTer12) c.4273dup (p.Leu1425ProfsTer12) c.1405dup (p.Leu469ProfsTer12) | |
18 | g.33744290T>A | CA402190918 | ASXL3 | c.4445T>A (p.Leu1482Gln) c.4442T>A (p.Leu1481Gln) c.4322T>A (p.Leu1441Gln) c.4418T>A (p.Leu1473Gln) c.4364T>A (p.Leu1455Gln) c.4325T>A (p.Leu1442Gln) c.4274T>A (p.Leu1425Gln) c.1406T>A (p.Leu469Gln) | |
18 | g.33744290T>C | CA402190919 | ASXL3 | c.4445T>C (p.Leu1482Pro) c.4442T>C (p.Leu1481Pro) c.4322T>C (p.Leu1441Pro) c.4418T>C (p.Leu1473Pro) c.4364T>C (p.Leu1455Pro) c.4325T>C (p.Leu1442Pro) c.4274T>C (p.Leu1425Pro) c.1406T>C (p.Leu469Pro) | dbSNP gnomAD v4 |
18 | g.33744290T>G | CA402190920 | ASXL3 | c.4445T>G (p.Leu1482Arg) c.4442T>G (p.Leu1481Arg) c.4322T>G (p.Leu1441Arg) c.4418T>G (p.Leu1473Arg) c.4364T>G (p.Leu1455Arg) c.4325T>G (p.Leu1442Arg) c.4274T>G (p.Leu1425Arg) c.1406T>G (p.Leu469Arg) | |
18 | g.33744290T= | CA2294858076 | ASXL3 | c.4445T= (p.Leu1482=) c.4442T= (p.Leu1481=) c.4322T= (p.Leu1441=) c.4418T= (p.Leu1473=) c.4364T= (p.Leu1455=) c.4325T= (p.Leu1442=) c.4274T= (p.Leu1425=) c.1406T= (p.Leu469=) | |
18 | g.33744291G>A | CA503770348 | ASXL3 | c.4446G>A (p.Leu1482=) c.4443G>A (p.Leu1481=) c.4323G>A (p.Leu1441=) c.4419G>A (p.Leu1473=) c.4365G>A (p.Leu1455=) c.4326G>A (p.Leu1442=) c.4275G>A (p.Leu1425=) c.1407G>A (p.Leu469=) | |
18 | g.33744291G>C | CA503770350 | ASXL3 | c.4446G>C (p.Leu1482=) c.4443G>C (p.Leu1481=) c.4323G>C (p.Leu1441=) c.4419G>C (p.Leu1473=) c.4365G>C (p.Leu1455=) c.4326G>C (p.Leu1442=) c.4275G>C (p.Leu1425=) c.1407G>C (p.Leu469=) | |
18 | g.33744291G>T | CA503770349 | ASXL3 | c.4446G>T (p.Leu1482=) c.4443G>T (p.Leu1481=) c.4323G>T (p.Leu1441=) c.4419G>T (p.Leu1473=) c.4365G>T (p.Leu1455=) c.4326G>T (p.Leu1442=) c.4275G>T (p.Leu1425=) c.1407G>T (p.Leu469=) | |
18 | g.33744292A>C | CA402190921 | ASXL3 | c.4447A>C (p.Thr1483Pro) c.4444A>C (p.Thr1482Pro) c.4324A>C (p.Thr1442Pro) c.4420A>C (p.Thr1474Pro) c.4366A>C (p.Thr1456Pro) c.4327A>C (p.Thr1443Pro) c.4276A>C (p.Thr1426Pro) c.1408A>C (p.Thr470Pro) | |
18 | g.33744292A>G | CA402190922 | ASXL3 | c.4447A>G (p.Thr1483Ala) c.4444A>G (p.Thr1482Ala) c.4324A>G (p.Thr1442Ala) c.4420A>G (p.Thr1474Ala) c.4366A>G (p.Thr1456Ala) c.4327A>G (p.Thr1443Ala) c.4276A>G (p.Thr1426Ala) c.1408A>G (p.Thr470Ala) | |
18 | g.33744292A>T | CA402190923 | ASXL3 | c.4447A>T (p.Thr1483Ser) c.4444A>T (p.Thr1482Ser) c.4324A>T (p.Thr1442Ser) c.4420A>T (p.Thr1474Ser) c.4366A>T (p.Thr1456Ser) c.4327A>T (p.Thr1443Ser) c.4276A>T (p.Thr1426Ser) c.1408A>T (p.Thr470Ser) | |
18 | g.33744293C>A | CA402190924 | ASXL3 | c.4448C>A (p.Thr1483Asn) c.4445C>A (p.Thr1482Asn) c.4325C>A (p.Thr1442Asn) c.4421C>A (p.Thr1474Asn) c.4367C>A (p.Thr1456Asn) c.4328C>A (p.Thr1443Asn) c.4277C>A (p.Thr1426Asn) c.1409C>A (p.Thr470Asn) | |
18 | g.33744293C>G | CA402190925 | ASXL3 | c.4448C>G (p.Thr1483Ser) c.4445C>G (p.Thr1482Ser) c.4325C>G (p.Thr1442Ser) c.4421C>G (p.Thr1474Ser) c.4367C>G (p.Thr1456Ser) c.4328C>G (p.Thr1443Ser) c.4277C>G (p.Thr1426Ser) c.1409C>G (p.Thr470Ser) | |
18 | g.33744293C>T | CA402190926 | ASXL3 | c.4448C>T (p.Thr1483Ile) c.4445C>T (p.Thr1482Ile) c.4325C>T (p.Thr1442Ile) c.4421C>T (p.Thr1474Ile) c.4367C>T (p.Thr1456Ile) c.4328C>T (p.Thr1443Ile) c.4277C>T (p.Thr1426Ile) c.1409C>T (p.Thr470Ile) | |
18 | g.33744294C>A | CA503770356 | ASXL3 | c.4449C>A (p.Thr1483=) c.4446C>A (p.Thr1482=) c.4326C>A (p.Thr1442=) c.4422C>A (p.Thr1474=) c.4368C>A (p.Thr1456=) c.4329C>A (p.Thr1443=) c.4278C>A (p.Thr1426=) c.1410C>A (p.Thr470=) | |
18 | g.33744294C>G | CA503770358 | ASXL3 | c.4449C>G (p.Thr1483=) c.4446C>G (p.Thr1482=) c.4326C>G (p.Thr1442=) c.4422C>G (p.Thr1474=) c.4368C>G (p.Thr1456=) c.4329C>G (p.Thr1443=) c.4278C>G (p.Thr1426=) c.1410C>G (p.Thr470=) | |
18 | g.33744294C>T | CA503770359 | ASXL3 | c.4449C>T (p.Thr1483=) c.4446C>T (p.Thr1482=) c.4326C>T (p.Thr1442=) c.4422C>T (p.Thr1474=) c.4368C>T (p.Thr1456=) c.4329C>T (p.Thr1443=) c.4278C>T (p.Thr1426=) c.1410C>T (p.Thr470=) | |
18 | g.33744295T>A | CA402190929 | ASXL3 | c.4450T>A (p.Ser1484Thr) c.4447T>A (p.Ser1483Thr) c.4327T>A (p.Ser1443Thr) c.4423T>A (p.Ser1475Thr) c.4369T>A (p.Ser1457Thr) c.4330T>A (p.Ser1444Thr) c.4279T>A (p.Ser1427Thr) c.1411T>A (p.Ser471Thr) | |
18 | g.33744295T>C | CA402190928 | ASXL3 | c.4450T>C (p.Ser1484Pro) c.4447T>C (p.Ser1483Pro) c.4327T>C (p.Ser1443Pro) c.4423T>C (p.Ser1475Pro) c.4369T>C (p.Ser1457Pro) c.4330T>C (p.Ser1444Pro) c.4279T>C (p.Ser1427Pro) c.1411T>C (p.Ser471Pro) | |
18 | g.33744295T>G | CA402190927 | ASXL3 | c.4450T>G (p.Ser1484Ala) c.4447T>G (p.Ser1483Ala) c.4327T>G (p.Ser1443Ala) c.4423T>G (p.Ser1475Ala) c.4369T>G (p.Ser1457Ala) c.4330T>G (p.Ser1444Ala) c.4279T>G (p.Ser1427Ala) c.1411T>G (p.Ser471Ala) | gnomAD v4 |
18 | g.33744296C>A | CA402190930 | ASXL3 | c.4451C>A (p.Ser1484Tyr) c.4448C>A (p.Ser1483Tyr) c.4328C>A (p.Ser1443Tyr) c.4424C>A (p.Ser1475Tyr) c.4370C>A (p.Ser1457Tyr) c.4331C>A (p.Ser1444Tyr) c.4280C>A (p.Ser1427Tyr) c.1412C>A (p.Ser471Tyr) | |
18 | g.33744296C>G | CA402190931 | ASXL3 | c.4451C>G (p.Ser1484Cys) c.4448C>G (p.Ser1483Cys) c.4328C>G (p.Ser1443Cys) c.4424C>G (p.Ser1475Cys) c.4370C>G (p.Ser1457Cys) c.4331C>G (p.Ser1444Cys) c.4280C>G (p.Ser1427Cys) c.1412C>G (p.Ser471Cys) | |
18 | g.33744296C>T | CA402190932 | ASXL3 | c.4451C>T (p.Ser1484Phe) c.4448C>T (p.Ser1483Phe) c.4328C>T (p.Ser1443Phe) c.4424C>T (p.Ser1475Phe) c.4370C>T (p.Ser1457Phe) c.4331C>T (p.Ser1444Phe) c.4280C>T (p.Ser1427Phe) c.1412C>T (p.Ser471Phe) | COSMIC |
18 | g.33744297C>A | CA503770361 | ASXL3 | c.4452C>A (p.Ser1484=) c.4449C>A (p.Ser1483=) c.4329C>A (p.Ser1443=) c.4425C>A (p.Ser1475=) c.4371C>A (p.Ser1457=) c.4332C>A (p.Ser1444=) c.4281C>A (p.Ser1427=) c.1413C>A (p.Ser471=) | |
18 | g.33744297C>G | CA503770364 | ASXL3 | c.4452C>G (p.Ser1484=) c.4449C>G (p.Ser1483=) c.4329C>G (p.Ser1443=) c.4425C>G (p.Ser1475=) c.4371C>G (p.Ser1457=) c.4332C>G (p.Ser1444=) c.4281C>G (p.Ser1427=) c.1413C>G (p.Ser471=) | |
18 | g.33744297C>T | CA503770363 | ASXL3 | c.4452C>T (p.Ser1484=) c.4449C>T (p.Ser1483=) c.4329C>T (p.Ser1443=) c.4425C>T (p.Ser1475=) c.4371C>T (p.Ser1457=) c.4332C>T (p.Ser1444=) c.4281C>T (p.Ser1427=) c.1413C>T (p.Ser471=) | |
18 | g.33744298A= | CA2294858077 | ASXL3 | c.4453A= (p.Ser1485=) c.4450A= (p.Ser1484=) c.4330A= (p.Ser1444=) c.4426A= (p.Ser1476=) c.4372A= (p.Ser1458=) c.4333A= (p.Ser1445=) c.4282A= (p.Ser1428=) c.1414A= (p.Ser472=) | |
18 | g.33744298A>C | CA402190933 | ASXL3 | c.4453A>C (p.Ser1485Arg) c.4450A>C (p.Ser1484Arg) c.4330A>C (p.Ser1444Arg) c.4426A>C (p.Ser1476Arg) c.4372A>C (p.Ser1458Arg) c.4333A>C (p.Ser1445Arg) c.4282A>C (p.Ser1428Arg) c.1414A>C (p.Ser472Arg) | ClinVar dbSNP gnomAD v4 |
18 | g.33744298A>G | CA402190934 | ASXL3 | c.4453A>G (p.Ser1485Gly) c.4450A>G (p.Ser1484Gly) c.4330A>G (p.Ser1444Gly) c.4426A>G (p.Ser1476Gly) c.4372A>G (p.Ser1458Gly) c.4333A>G (p.Ser1445Gly) c.4282A>G (p.Ser1428Gly) c.1414A>G (p.Ser472Gly) | gnomAD v4 |
18 | g.33744298A>T | CA402190935 | ASXL3 | c.4453A>T (p.Ser1485Cys) c.4450A>T (p.Ser1484Cys) c.4330A>T (p.Ser1444Cys) c.4426A>T (p.Ser1476Cys) c.4372A>T (p.Ser1458Cys) c.4333A>T (p.Ser1445Cys) c.4282A>T (p.Ser1428Cys) c.1414A>T (p.Ser472Cys) | |
18 | g.33744299G>A | CA8934263 | ASXL3 | c.4454G>A (p.Ser1485Asn) c.4451G>A (p.Ser1484Asn) c.4331G>A (p.Ser1444Asn) c.4427G>A (p.Ser1476Asn) c.4373G>A (p.Ser1458Asn) c.4334G>A (p.Ser1445Asn) c.4283G>A (p.Ser1428Asn) c.1415G>A (p.Ser472Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744299G>C | CA402190936 | ASXL3 | c.4454G>C (p.Ser1485Thr) c.4451G>C (p.Ser1484Thr) c.4331G>C (p.Ser1444Thr) c.4427G>C (p.Ser1476Thr) c.4373G>C (p.Ser1458Thr) c.4334G>C (p.Ser1445Thr) c.4283G>C (p.Ser1428Thr) c.1415G>C (p.Ser472Thr) | |
18 | g.33744299G= | CA2294858078 | ASXL3 | c.4454G= (p.Ser1485=) c.4451G= (p.Ser1484=) c.4331G= (p.Ser1444=) c.4427G= (p.Ser1476=) c.4373G= (p.Ser1458=) c.4334G= (p.Ser1445=) c.4283G= (p.Ser1428=) c.1415G= (p.Ser472=) | |
18 | g.33744299G>T | CA402190938 | ASXL3 | c.4454G>T (p.Ser1485Ile) c.4451G>T (p.Ser1484Ile) c.4331G>T (p.Ser1444Ile) c.4427G>T (p.Ser1476Ile) c.4373G>T (p.Ser1458Ile) c.4334G>T (p.Ser1445Ile) c.4283G>T (p.Ser1428Ile) c.1415G>T (p.Ser472Ile) | gnomAD v4 |
18 | g.33744300T>A | CA402190941 | ASXL3 | c.4455T>A (p.Ser1485Arg) c.4452T>A (p.Ser1484Arg) c.4332T>A (p.Ser1444Arg) c.4428T>A (p.Ser1476Arg) c.4374T>A (p.Ser1458Arg) c.4335T>A (p.Ser1445Arg) c.4284T>A (p.Ser1428Arg) c.1416T>A (p.Ser472Arg) | |
18 | g.33744300T>C | CA503770368 | ASXL3 | c.4455T>C (p.Ser1485=) c.4452T>C (p.Ser1484=) c.4332T>C (p.Ser1444=) c.4428T>C (p.Ser1476=) c.4374T>C (p.Ser1458=) c.4335T>C (p.Ser1445=) c.4284T>C (p.Ser1428=) c.1416T>C (p.Ser472=) | |
18 | g.33744300T>G | CA402190943 | ASXL3 | c.4455T>G (p.Ser1485Arg) c.4452T>G (p.Ser1484Arg) c.4332T>G (p.Ser1444Arg) c.4428T>G (p.Ser1476Arg) c.4374T>G (p.Ser1458Arg) c.4335T>G (p.Ser1445Arg) c.4284T>G (p.Ser1428Arg) c.1416T>G (p.Ser472Arg) | |
18 | g.33744301T>A | CA402190946 | ASXL3 | c.4456T>A (p.Leu1486Met) c.4453T>A (p.Leu1485Met) c.4333T>A (p.Leu1445Met) c.4429T>A (p.Leu1477Met) c.4375T>A (p.Leu1459Met) c.4336T>A (p.Leu1446Met) c.4285T>A (p.Leu1429Met) c.1417T>A (p.Leu473Met) | |
18 | g.33744301T>C | CA503770370 | ASXL3 | c.4456T>C (p.Leu1486=) c.4453T>C (p.Leu1485=) c.4333T>C (p.Leu1445=) c.4429T>C (p.Leu1477=) c.4375T>C (p.Leu1459=) c.4336T>C (p.Leu1446=) c.4285T>C (p.Leu1429=) c.1417T>C (p.Leu473=) | |
18 | g.33744301T>G | CA402190948 | ASXL3 | c.4456T>G (p.Leu1486Val) c.4453T>G (p.Leu1485Val) c.4333T>G (p.Leu1445Val) c.4429T>G (p.Leu1477Val) c.4375T>G (p.Leu1459Val) c.4336T>G (p.Leu1446Val) c.4285T>G (p.Leu1429Val) c.1417T>G (p.Leu473Val) | |
18 | g.33744301_33744307delinsTTGTCTC | CA2294858079 | ASXL3 | c.4456_4462delinsTTGTCTC (p.Leu1486=) c.4453_4459delinsTTGTCTC (p.Leu1485=) c.4333_4339delinsTTGTCTC (p.Leu1445=) c.4429_4435delinsTTGTCTC (p.Leu1477=) c.4375_4381delinsTTGTCTC (p.Leu1459=) c.4336_4342delinsTTGTCTC (p.Leu1446=) c.4285_4291delinsTTGTCTC (p.Leu1429=) c.1417_1423delinsTTGTCTC (p.Leu473=) | |
18 | g.33744302T>A | CA402190956 | ASXL3 | c.4457T>A (p.Leu1486Ter) c.4454T>A (p.Leu1485Ter) c.4334T>A (p.Leu1445Ter) c.4430T>A (p.Leu1477Ter) c.4376T>A (p.Leu1459Ter) c.4337T>A (p.Leu1446Ter) c.4286T>A (p.Leu1429Ter) c.1418T>A (p.Leu473Ter) | |
18 | g.33744302T>C | CA402190953 | ASXL3 | c.4457T>C (p.Leu1486Ser) c.4454T>C (p.Leu1485Ser) c.4334T>C (p.Leu1445Ser) c.4430T>C (p.Leu1477Ser) c.4376T>C (p.Leu1459Ser) c.4337T>C (p.Leu1446Ser) c.4286T>C (p.Leu1429Ser) c.1418T>C (p.Leu473Ser) | |
18 | g.33744302T>G | CA402190951 | ASXL3 | c.4457T>G (p.Leu1486Trp) c.4454T>G (p.Leu1485Trp) c.4334T>G (p.Leu1445Trp) c.4430T>G (p.Leu1477Trp) c.4376T>G (p.Leu1459Trp) c.4337T>G (p.Leu1446Trp) c.4286T>G (p.Leu1429Trp) c.1418T>G (p.Leu473Trp) | gnomAD v4 |
18 | g.33744304_33744309del | CA2294858080 | ASXL3 | c.4459_4464del (p.Ser1487_Leu1488del) c.4456_4461del (p.Ser1486_Leu1487del) c.4336_4341del (p.Ser1446_Leu1447del) c.4432_4437del (p.Ser1478_Leu1479del) c.4378_4383del (p.Ser1460_Leu1461del) c.4339_4344del (p.Ser1447_Leu1448del) c.4288_4293del (p.Ser1430_Leu1431del) c.1420_1425del (p.Ser474_Leu475del) | ClinVar dbSNP |
18 | g.33744303G>A | CA503770375 | ASXL3 | c.4458G>A (p.Leu1486=) c.4455G>A (p.Leu1485=) c.4335G>A (p.Leu1445=) c.4431G>A (p.Leu1477=) c.4377G>A (p.Leu1459=) c.4338G>A (p.Leu1446=) c.4287G>A (p.Leu1429=) c.1419G>A (p.Leu473=) | |
18 | g.33744303G>C | CA402190960 | ASXL3 | c.4458G>C (p.Leu1486Phe) c.4455G>C (p.Leu1485Phe) c.4335G>C (p.Leu1445Phe) c.4431G>C (p.Leu1477Phe) c.4377G>C (p.Leu1459Phe) c.4338G>C (p.Leu1446Phe) c.4287G>C (p.Leu1429Phe) c.1419G>C (p.Leu473Phe) | |
18 | g.33744303G>T | CA402190958 | ASXL3 | c.4458G>T (p.Leu1486Phe) c.4455G>T (p.Leu1485Phe) c.4335G>T (p.Leu1445Phe) c.4431G>T (p.Leu1477Phe) c.4377G>T (p.Leu1459Phe) c.4338G>T (p.Leu1446Phe) c.4287G>T (p.Leu1429Phe) c.1419G>T (p.Leu473Phe) | |
18 | g.33744304T>A | CA402190963 | ASXL3 | c.4459T>A (p.Ser1487Thr) c.4456T>A (p.Ser1486Thr) c.4336T>A (p.Ser1446Thr) c.4432T>A (p.Ser1478Thr) c.4378T>A (p.Ser1460Thr) c.4339T>A (p.Ser1447Thr) c.4288T>A (p.Ser1430Thr) c.1420T>A (p.Ser474Thr) | |
18 | g.33744304T>C | CA8934264 | ASXL3 | c.4459T>C (p.Ser1487Pro) c.4456T>C (p.Ser1486Pro) c.4336T>C (p.Ser1446Pro) c.4432T>C (p.Ser1478Pro) c.4378T>C (p.Ser1460Pro) c.4339T>C (p.Ser1447Pro) c.4288T>C (p.Ser1430Pro) c.1420T>C (p.Ser474Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744304T>G | CA402190966 | ASXL3 | c.4459T>G (p.Ser1487Ala) c.4456T>G (p.Ser1486Ala) c.4336T>G (p.Ser1446Ala) c.4432T>G (p.Ser1478Ala) c.4378T>G (p.Ser1460Ala) c.4339T>G (p.Ser1447Ala) c.4288T>G (p.Ser1430Ala) c.1420T>G (p.Ser474Ala) | |
18 | g.33744304T= | CA2294858081 | ASXL3 | c.4459T= (p.Ser1487=) c.4456T= (p.Ser1486=) c.4336T= (p.Ser1446=) c.4432T= (p.Ser1478=) c.4378T= (p.Ser1460=) c.4339T= (p.Ser1447=) c.4288T= (p.Ser1430=) c.1420T= (p.Ser474=) | |
18 | g.33744305C>A | CA8934265 | ASXL3 | c.4460C>A (p.Ser1487Tyr) c.4457C>A (p.Ser1486Tyr) c.4337C>A (p.Ser1446Tyr) c.4433C>A (p.Ser1478Tyr) c.4379C>A (p.Ser1460Tyr) c.4340C>A (p.Ser1447Tyr) c.4289C>A (p.Ser1430Tyr) c.1421C>A (p.Ser474Tyr) | dbSNP ExAC gnomAD v2 |
18 | g.33744305C= | CA2294858082 | ASXL3 | c.4460C= (p.Ser1487=) c.4457C= (p.Ser1486=) c.4337C= (p.Ser1446=) c.4433C= (p.Ser1478=) c.4379C= (p.Ser1460=) c.4340C= (p.Ser1447=) c.4289C= (p.Ser1430=) c.1421C= (p.Ser474=) | |
18 | g.33744305C>G | CA402190972 | ASXL3 | c.4460C>G (p.Ser1487Cys) c.4457C>G (p.Ser1486Cys) c.4337C>G (p.Ser1446Cys) c.4433C>G (p.Ser1478Cys) c.4379C>G (p.Ser1460Cys) c.4340C>G (p.Ser1447Cys) c.4289C>G (p.Ser1430Cys) c.1421C>G (p.Ser474Cys) | |
18 | g.33744305C>T | CA402190974 | ASXL3 | c.4460C>T (p.Ser1487Phe) c.4457C>T (p.Ser1486Phe) c.4337C>T (p.Ser1446Phe) c.4433C>T (p.Ser1478Phe) c.4379C>T (p.Ser1460Phe) c.4340C>T (p.Ser1447Phe) c.4289C>T (p.Ser1430Phe) c.1421C>T (p.Ser474Phe) | |
18 | g.33744306T>A | CA503770383 | ASXL3 | c.4461T>A (p.Ser1487=) c.4458T>A (p.Ser1486=) c.4338T>A (p.Ser1446=) c.4434T>A (p.Ser1478=) c.4380T>A (p.Ser1460=) c.4341T>A (p.Ser1447=) c.4290T>A (p.Ser1430=) c.1422T>A (p.Ser474=) | |
18 | g.33744306T>C | CA503770380 | ASXL3 | c.4461T>C (p.Ser1487=) c.4458T>C (p.Ser1486=) c.4338T>C (p.Ser1446=) c.4434T>C (p.Ser1478=) c.4380T>C (p.Ser1460=) c.4341T>C (p.Ser1447=) c.4290T>C (p.Ser1430=) c.1422T>C (p.Ser474=) | |
18 | g.33744306T>G | CA503770382 | ASXL3 | c.4461T>G (p.Ser1487=) c.4458T>G (p.Ser1486=) c.4338T>G (p.Ser1446=) c.4434T>G (p.Ser1478=) c.4380T>G (p.Ser1460=) c.4341T>G (p.Ser1447=) c.4290T>G (p.Ser1430=) c.1422T>G (p.Ser474=) | |
18 | g.33744306dup | CA2739291110 | ASXL3 | c.4461dup (p.Leu1488SerfsTer6) c.4458dup (p.Leu1487SerfsTer6) c.4338dup (p.Leu1447SerfsTer6) c.4434dup (p.Leu1479SerfsTer6) c.4380dup (p.Leu1461SerfsTer6) c.4341dup (p.Leu1448SerfsTer6) c.4290dup (p.Leu1431SerfsTer6) c.1422dup (p.Leu475SerfsTer6) | |
18 | g.33744306_33744310delinsTCTGA | CA2294858083 | ASXL3 | c.4461_4465delinsTCTGA (p.Ser1487=) c.4458_4462delinsTCTGA (p.Ser1486=) c.4338_4342delinsTCTGA (p.Ser1446=) c.4434_4438delinsTCTGA (p.Ser1478=) c.4380_4384delinsTCTGA (p.Ser1460=) c.4341_4345delinsTCTGA (p.Ser1447=) c.4290_4294delinsTCTGA (p.Ser1430=) c.1422_1426delinsTCTGA (p.Ser474=) | |
18 | g.33744307C>A | CA402190979 | ASXL3 | c.4462C>A (p.Leu1488Met) c.4459C>A (p.Leu1487Met) c.4339C>A (p.Leu1447Met) c.4435C>A (p.Leu1479Met) c.4381C>A (p.Leu1461Met) c.4342C>A (p.Leu1448Met) c.4291C>A (p.Leu1431Met) c.1423C>A (p.Leu475Met) | |
18 | g.33744307C>G | CA402190977 | ASXL3 | c.4462C>G (p.Leu1488Val) c.4459C>G (p.Leu1487Val) c.4339C>G (p.Leu1447Val) c.4435C>G (p.Leu1479Val) c.4381C>G (p.Leu1461Val) c.4342C>G (p.Leu1448Val) c.4291C>G (p.Leu1431Val) c.1423C>G (p.Leu475Val) | |
18 | g.33744307C>T | CA503770386 | ASXL3 | c.4462C>T (p.Leu1488=) c.4459C>T (p.Leu1487=) c.4339C>T (p.Leu1447=) c.4435C>T (p.Leu1479=) c.4381C>T (p.Leu1461=) c.4342C>T (p.Leu1448=) c.4291C>T (p.Leu1431=) c.1423C>T (p.Leu475=) | |
18 | g.33744310_33744313del | CA915952509 | ASXL3 | c.4465_4468del (p.Thr1489SerfsTer17) c.4462_4465del (p.Thr1488SerfsTer17) c.4342_4345del (p.Thr1448SerfsTer17) c.4438_4441del (p.Thr1480SerfsTer17) c.4384_4387del (p.Thr1462SerfsTer17) c.4345_4348del (p.Thr1449SerfsTer17) c.4294_4297del (p.Thr1432SerfsTer17) c.1426_1429del (p.Thr476SerfsTer17) | ClinVar dbSNP |
18 | g.33744308T>A | CA402190983 | ASXL3 | c.4463T>A (p.Leu1488Gln) c.4460T>A (p.Leu1487Gln) c.4340T>A (p.Leu1447Gln) c.4436T>A (p.Leu1479Gln) c.4382T>A (p.Leu1461Gln) c.4343T>A (p.Leu1448Gln) c.4292T>A (p.Leu1431Gln) c.1424T>A (p.Leu475Gln) | |
18 | g.33744308T>C | CA402190985 | ASXL3 | c.4463T>C (p.Leu1488Pro) c.4460T>C (p.Leu1487Pro) c.4340T>C (p.Leu1447Pro) c.4436T>C (p.Leu1479Pro) c.4382T>C (p.Leu1461Pro) c.4343T>C (p.Leu1448Pro) c.4292T>C (p.Leu1431Pro) c.1424T>C (p.Leu475Pro) | |
18 | g.33744308T>G | CA402190986 | ASXL3 | c.4463T>G (p.Leu1488Arg) c.4460T>G (p.Leu1487Arg) c.4340T>G (p.Leu1447Arg) c.4436T>G (p.Leu1479Arg) c.4382T>G (p.Leu1461Arg) c.4343T>G (p.Leu1448Arg) c.4292T>G (p.Leu1431Arg) c.1424T>G (p.Leu475Arg) | gnomAD v4 |
18 | g.33744308dup | CA658791385 | ASXL3 | c.4463dup (p.Thr1489AspfsTer5) c.4460dup (p.Thr1488AspfsTer5) c.4340dup (p.Thr1448AspfsTer5) c.4436dup (p.Thr1480AspfsTer5) c.4382dup (p.Thr1462AspfsTer5) c.4343dup (p.Thr1449AspfsTer5) c.4292dup (p.Thr1432AspfsTer5) c.1424dup (p.Thr476AspfsTer5) | |
18 | g.33744309G>A | CA503770390 | ASXL3 | c.4464G>A (p.Leu1488=) c.4461G>A (p.Leu1487=) c.4341G>A (p.Leu1447=) c.4437G>A (p.Leu1479=) c.4383G>A (p.Leu1461=) c.4344G>A (p.Leu1448=) c.4293G>A (p.Leu1431=) c.1425G>A (p.Leu475=) | |
18 | g.33744309G>C | CA503770392 | ASXL3 | c.4464G>C (p.Leu1488=) c.4461G>C (p.Leu1487=) c.4341G>C (p.Leu1447=) c.4437G>C (p.Leu1479=) c.4383G>C (p.Leu1461=) c.4344G>C (p.Leu1448=) c.4293G>C (p.Leu1431=) c.1425G>C (p.Leu475=) | |
18 | g.33744309G>T | CA503770393 | ASXL3 | c.4464G>T (p.Leu1488=) c.4461G>T (p.Leu1487=) c.4341G>T (p.Leu1447=) c.4437G>T (p.Leu1479=) c.4383G>T (p.Leu1461=) c.4344G>T (p.Leu1448=) c.4293G>T (p.Leu1431=) c.1425G>T (p.Leu475=) | |
18 | g.33744310A>C | CA402190988 | ASXL3 | c.4465A>C (p.Thr1489Pro) c.4462A>C (p.Thr1488Pro) c.4342A>C (p.Thr1448Pro) c.4438A>C (p.Thr1480Pro) c.4384A>C (p.Thr1462Pro) c.4345A>C (p.Thr1449Pro) c.4294A>C (p.Thr1432Pro) c.1426A>C (p.Thr476Pro) | |
18 | g.33744310A>G | CA402190989 | ASXL3 | c.4465A>G (p.Thr1489Ala) c.4462A>G (p.Thr1488Ala) c.4342A>G (p.Thr1448Ala) c.4438A>G (p.Thr1480Ala) c.4384A>G (p.Thr1462Ala) c.4345A>G (p.Thr1449Ala) c.4294A>G (p.Thr1432Ala) c.1426A>G (p.Thr476Ala) | |
18 | g.33744310A>T | CA402190990 | ASXL3 | c.4465A>T (p.Thr1489Ser) c.4462A>T (p.Thr1488Ser) c.4342A>T (p.Thr1448Ser) c.4438A>T (p.Thr1480Ser) c.4384A>T (p.Thr1462Ser) c.4345A>T (p.Thr1449Ser) c.4294A>T (p.Thr1432Ser) c.1426A>T (p.Thr476Ser) | |
18 | g.33744311C>A | CA402190993 | ASXL3 | c.4466C>A (p.Thr1489Asn) c.4463C>A (p.Thr1488Asn) c.4343C>A (p.Thr1448Asn) c.4439C>A (p.Thr1480Asn) c.4385C>A (p.Thr1462Asn) c.4346C>A (p.Thr1449Asn) c.4295C>A (p.Thr1432Asn) c.1427C>A (p.Thr476Asn) | |
18 | g.33744311C>G | CA402190991 | ASXL3 | c.4466C>G (p.Thr1489Ser) c.4463C>G (p.Thr1488Ser) c.4343C>G (p.Thr1448Ser) c.4439C>G (p.Thr1480Ser) c.4385C>G (p.Thr1462Ser) c.4346C>G (p.Thr1449Ser) c.4295C>G (p.Thr1432Ser) c.1427C>G (p.Thr476Ser) | |
18 | g.33744311C>T | CA402190992 | ASXL3 | c.4466C>T (p.Thr1489Ile) c.4463C>T (p.Thr1488Ile) c.4343C>T (p.Thr1448Ile) c.4439C>T (p.Thr1480Ile) c.4385C>T (p.Thr1462Ile) c.4346C>T (p.Thr1449Ile) c.4295C>T (p.Thr1432Ile) c.1427C>T (p.Thr476Ile) | |
18 | g.33744312T>A | CA503770396 | ASXL3 | c.4467T>A (p.Thr1489=) c.4464T>A (p.Thr1488=) c.4344T>A (p.Thr1448=) c.4440T>A (p.Thr1480=) c.4386T>A (p.Thr1462=) c.4347T>A (p.Thr1449=) c.4296T>A (p.Thr1432=) c.1428T>A (p.Thr476=) | |
18 | g.33744312T>C | CA503770398 | ASXL3 | c.4467T>C (p.Thr1489=) c.4464T>C (p.Thr1488=) c.4344T>C (p.Thr1448=) c.4440T>C (p.Thr1480=) c.4386T>C (p.Thr1462=) c.4347T>C (p.Thr1449=) c.4296T>C (p.Thr1432=) c.1428T>C (p.Thr476=) | |
18 | g.33744312T>G | CA503770400 | ASXL3 | c.4467T>G (p.Thr1489=) c.4464T>G (p.Thr1488=) c.4344T>G (p.Thr1448=) c.4440T>G (p.Thr1480=) c.4386T>G (p.Thr1462=) c.4347T>G (p.Thr1449=) c.4296T>G (p.Thr1432=) c.1428T>G (p.Thr476=) | |
18 | g.33744313G>A | CA402190994 | ASXL3 | c.4468G>A (p.Val1490Ile) c.4465G>A (p.Val1489Ile) c.4345G>A (p.Val1449Ile) c.4441G>A (p.Val1481Ile) c.4387G>A (p.Val1463Ile) c.4348G>A (p.Val1450Ile) c.4297G>A (p.Val1433Ile) c.1429G>A (p.Val477Ile) | gnomAD v4 |
18 | g.33744313G>C | CA8934266 | ASXL3 | c.4468G>C (p.Val1490Leu) c.4465G>C (p.Val1489Leu) c.4345G>C (p.Val1449Leu) c.4441G>C (p.Val1481Leu) c.4387G>C (p.Val1463Leu) c.4348G>C (p.Val1450Leu) c.4297G>C (p.Val1433Leu) c.1429G>C (p.Val477Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744313G= | CA2294858084 | ASXL3 | c.4468G= (p.Val1490=) c.4465G= (p.Val1489=) c.4345G= (p.Val1449=) c.4441G= (p.Val1481=) c.4387G= (p.Val1463=) c.4348G= (p.Val1450=) c.4297G= (p.Val1433=) c.1429G= (p.Val477=) | |
18 | g.33744313G>T | CA402190995 | ASXL3 | c.4468G>T (p.Val1490Phe) c.4465G>T (p.Val1489Phe) c.4345G>T (p.Val1449Phe) c.4441G>T (p.Val1481Phe) c.4387G>T (p.Val1463Phe) c.4348G>T (p.Val1450Phe) c.4297G>T (p.Val1433Phe) c.1429G>T (p.Val477Phe) | |
18 | g.33744314T>A | CA402190996 | ASXL3 | c.4469T>A (p.Val1490Asp) c.4466T>A (p.Val1489Asp) c.4346T>A (p.Val1449Asp) c.4442T>A (p.Val1481Asp) c.4388T>A (p.Val1463Asp) c.4349T>A (p.Val1450Asp) c.4298T>A (p.Val1433Asp) c.1430T>A (p.Val477Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744314T>C | CA402190997 | ASXL3 | c.4469T>C (p.Val1490Ala) c.4466T>C (p.Val1489Ala) c.4346T>C (p.Val1449Ala) c.4442T>C (p.Val1481Ala) c.4388T>C (p.Val1463Ala) c.4349T>C (p.Val1450Ala) c.4298T>C (p.Val1433Ala) c.1430T>C (p.Val477Ala) | gnomAD v4 |
18 | g.33744314T>G | CA402190998 | ASXL3 | c.4469T>G (p.Val1490Gly) c.4466T>G (p.Val1489Gly) c.4346T>G (p.Val1449Gly) c.4442T>G (p.Val1481Gly) c.4388T>G (p.Val1463Gly) c.4349T>G (p.Val1450Gly) c.4298T>G (p.Val1433Gly) c.1430T>G (p.Val477Gly) | |
18 | g.33744314T= | CA2294858085 | ASXL3 | c.4469T= (p.Val1490=) c.4466T= (p.Val1489=) c.4346T= (p.Val1449=) c.4442T= (p.Val1481=) c.4388T= (p.Val1463=) c.4349T= (p.Val1450=) c.4298T= (p.Val1433=) c.1430T= (p.Val477=) | |
18 | g.33744315C>A | CA503770404 | ASXL3 | c.4470C>A (p.Val1490=) c.4467C>A (p.Val1489=) c.4347C>A (p.Val1449=) c.4443C>A (p.Val1481=) c.4389C>A (p.Val1463=) c.4350C>A (p.Val1450=) c.4299C>A (p.Val1433=) c.1431C>A (p.Val477=) | |
18 | g.33744315C>G | CA503770405 | ASXL3 | c.4470C>G (p.Val1490=) c.4467C>G (p.Val1489=) c.4347C>G (p.Val1449=) c.4443C>G (p.Val1481=) c.4389C>G (p.Val1463=) c.4350C>G (p.Val1450=) c.4299C>G (p.Val1433=) c.1431C>G (p.Val477=) | |
18 | g.33744315C>T | CA503770406 | ASXL3 | c.4470C>T (p.Val1490=) c.4467C>T (p.Val1489=) c.4347C>T (p.Val1449=) c.4443C>T (p.Val1481=) c.4389C>T (p.Val1463=) c.4350C>T (p.Val1450=) c.4299C>T (p.Val1433=) c.1431C>T (p.Val477=) | |
18 | g.33744315_33744323del | CA2641457827 | ASXL3 | c.4470_4478del (p.Ser1491_Glu1493del) c.4467_4475del (p.Ser1490_Glu1492del) c.4347_4355del (p.Ser1450_Glu1452del) c.4443_4451del (p.Ser1482_Glu1484del) c.4389_4397del (p.Ser1464_Glu1466del) c.4350_4358del (p.Ser1451_Glu1453del) c.4299_4307del (p.Ser1434_Glu1436del) c.1431_1439del (p.Ser478_Glu480del) | gnomAD v4 |
18 | g.33744316T>A | CA402190999 | ASXL3 | c.4471T>A (p.Ser1491Thr) c.4468T>A (p.Ser1490Thr) c.4348T>A (p.Ser1450Thr) c.4444T>A (p.Ser1482Thr) c.4390T>A (p.Ser1464Thr) c.4351T>A (p.Ser1451Thr) c.4300T>A (p.Ser1434Thr) c.1432T>A (p.Ser478Thr) | |
18 | g.33744316T>C | CA8934267 | ASXL3 | c.4471T>C (p.Ser1491Pro) c.4468T>C (p.Ser1490Pro) c.4348T>C (p.Ser1450Pro) c.4444T>C (p.Ser1482Pro) c.4390T>C (p.Ser1464Pro) c.4351T>C (p.Ser1451Pro) c.4300T>C (p.Ser1434Pro) c.1432T>C (p.Ser478Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744316T>G | CA402191000 | ASXL3 | c.4471T>G (p.Ser1491Ala) c.4468T>G (p.Ser1490Ala) c.4348T>G (p.Ser1450Ala) c.4444T>G (p.Ser1482Ala) c.4390T>G (p.Ser1464Ala) c.4351T>G (p.Ser1451Ala) c.4300T>G (p.Ser1434Ala) c.1432T>G (p.Ser478Ala) | |
18 | g.33744316T= | CA2294858086 | ASXL3 | c.4471T= (p.Ser1491=) c.4468T= (p.Ser1490=) c.4348T= (p.Ser1450=) c.4444T= (p.Ser1482=) c.4390T= (p.Ser1464=) c.4351T= (p.Ser1451=) c.4300T= (p.Ser1434=) c.1432T= (p.Ser478=) | |
18 | g.33744317C>A | CA402191001 | ASXL3 | c.4472C>A (p.Ser1491Tyr) c.4469C>A (p.Ser1490Tyr) c.4349C>A (p.Ser1450Tyr) c.4445C>A (p.Ser1482Tyr) c.4391C>A (p.Ser1464Tyr) c.4352C>A (p.Ser1451Tyr) c.4301C>A (p.Ser1434Tyr) c.1433C>A (p.Ser478Tyr) | |
18 | g.33744317C= | CA2294858087 | ASXL3 | c.4472C= (p.Ser1491=) c.4469C= (p.Ser1490=) c.4349C= (p.Ser1450=) c.4445C= (p.Ser1482=) c.4391C= (p.Ser1464=) c.4352C= (p.Ser1451=) c.4301C= (p.Ser1434=) c.1433C= (p.Ser478=) | |
18 | g.33744317C>G | CA297793627 | ASXL3 | c.4472C>G (p.Ser1491Cys) c.4469C>G (p.Ser1490Cys) c.4349C>G (p.Ser1450Cys) c.4445C>G (p.Ser1482Cys) c.4391C>G (p.Ser1464Cys) c.4352C>G (p.Ser1451Cys) c.4301C>G (p.Ser1434Cys) c.1433C>G (p.Ser478Cys) | dbSNP |
18 | g.33744317C>T | CA402191002 | ASXL3 | c.4472C>T (p.Ser1491Phe) c.4469C>T (p.Ser1490Phe) c.4349C>T (p.Ser1450Phe) c.4445C>T (p.Ser1482Phe) c.4391C>T (p.Ser1464Phe) c.4352C>T (p.Ser1451Phe) c.4301C>T (p.Ser1434Phe) c.1433C>T (p.Ser478Phe) | |
18 | g.33744318C>A | CA503770412 | ASXL3 | c.4473C>A (p.Ser1491=) c.4470C>A (p.Ser1490=) c.4350C>A (p.Ser1450=) c.4446C>A (p.Ser1482=) c.4392C>A (p.Ser1464=) c.4353C>A (p.Ser1451=) c.4302C>A (p.Ser1434=) c.1434C>A (p.Ser478=) | gnomAD v4 COSMIC |
18 | g.33744318C= | CA2294858088 | ASXL3 | c.4473C= (p.Ser1491=) c.4470C= (p.Ser1490=) c.4350C= (p.Ser1450=) c.4446C= (p.Ser1482=) c.4392C= (p.Ser1464=) c.4353C= (p.Ser1451=) c.4302C= (p.Ser1434=) c.1434C= (p.Ser478=) | |
18 | g.33744318C>G | CA503770413 | ASXL3 | c.4473C>G (p.Ser1491=) c.4470C>G (p.Ser1490=) c.4350C>G (p.Ser1450=) c.4446C>G (p.Ser1482=) c.4392C>G (p.Ser1464=) c.4353C>G (p.Ser1451=) c.4302C>G (p.Ser1434=) c.1434C>G (p.Ser478=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744318C>T | CA8934268 | ASXL3 | c.4473C>T (p.Ser1491=) c.4470C>T (p.Ser1490=) c.4350C>T (p.Ser1450=) c.4446C>T (p.Ser1482=) c.4392C>T (p.Ser1464=) c.4353C>T (p.Ser1451=) c.4302C>T (p.Ser1434=) c.1434C>T (p.Ser478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744319G>A | CA8934269 | ASXL3 | c.4474G>A (p.Val1492Ile) c.4471G>A (p.Val1491Ile) c.4351G>A (p.Val1451Ile) c.4447G>A (p.Val1483Ile) c.4393G>A (p.Val1465Ile) c.4354G>A (p.Val1452Ile) c.4303G>A (p.Val1435Ile) c.1435G>A (p.Val479Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744319G>C | CA402191003 | ASXL3 | c.4474G>C (p.Val1492Leu) c.4471G>C (p.Val1491Leu) c.4351G>C (p.Val1451Leu) c.4447G>C (p.Val1483Leu) c.4393G>C (p.Val1465Leu) c.4354G>C (p.Val1452Leu) c.4303G>C (p.Val1435Leu) c.1435G>C (p.Val479Leu) | |
18 | g.33744319G= | CA2294858089 | ASXL3 | c.4474G= (p.Val1492=) c.4471G= (p.Val1491=) c.4351G= (p.Val1451=) c.4447G= (p.Val1483=) c.4393G= (p.Val1465=) c.4354G= (p.Val1452=) c.4303G= (p.Val1435=) c.1435G= (p.Val479=) | |
18 | g.33744319G>T | CA8934270 | ASXL3 | c.4474G>T (p.Val1492Phe) c.4471G>T (p.Val1491Phe) c.4351G>T (p.Val1451Phe) c.4447G>T (p.Val1483Phe) c.4393G>T (p.Val1465Phe) c.4354G>T (p.Val1452Phe) c.4303G>T (p.Val1435Phe) c.1435G>T (p.Val479Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744320T>A | CA402191004 | ASXL3 | c.4475T>A (p.Val1492Asp) c.4472T>A (p.Val1491Asp) c.4352T>A (p.Val1451Asp) c.4448T>A (p.Val1483Asp) c.4394T>A (p.Val1465Asp) c.4355T>A (p.Val1452Asp) c.4304T>A (p.Val1435Asp) c.1436T>A (p.Val479Asp) | |
18 | g.33744320T>C | CA402191005 | ASXL3 | c.4475T>C (p.Val1492Ala) c.4472T>C (p.Val1491Ala) c.4352T>C (p.Val1451Ala) c.4448T>C (p.Val1483Ala) c.4394T>C (p.Val1465Ala) c.4355T>C (p.Val1452Ala) c.4304T>C (p.Val1435Ala) c.1436T>C (p.Val479Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.33744320T>G | CA402191006 | ASXL3 | c.4475T>G (p.Val1492Gly) c.4472T>G (p.Val1491Gly) c.4352T>G (p.Val1451Gly) c.4448T>G (p.Val1483Gly) c.4394T>G (p.Val1465Gly) c.4355T>G (p.Val1452Gly) c.4304T>G (p.Val1435Gly) c.1436T>G (p.Val479Gly) | |
18 | g.33744320T= | CA2294858090 | ASXL3 | c.4475T= (p.Val1492=) c.4472T= (p.Val1491=) c.4352T= (p.Val1451=) c.4448T= (p.Val1483=) c.4394T= (p.Val1465=) c.4355T= (p.Val1452=) c.4304T= (p.Val1435=) c.1436T= (p.Val479=) | |
18 | g.33744321T>A | CA503770418 | ASXL3 | c.4476T>A (p.Val1492=) c.4473T>A (p.Val1491=) c.4353T>A (p.Val1451=) c.4449T>A (p.Val1483=) c.4395T>A (p.Val1465=) c.4356T>A (p.Val1452=) c.4305T>A (p.Val1435=) c.1437T>A (p.Val479=) | |
18 | g.33744321T>C | CA503770419 | ASXL3 | c.4476T>C (p.Val1492=) c.4473T>C (p.Val1491=) c.4353T>C (p.Val1451=) c.4449T>C (p.Val1483=) c.4395T>C (p.Val1465=) c.4356T>C (p.Val1452=) c.4305T>C (p.Val1435=) c.1437T>C (p.Val479=) | |
18 | g.33744321T>G | CA503770420 | ASXL3 | c.4476T>G (p.Val1492=) c.4473T>G (p.Val1491=) c.4353T>G (p.Val1451=) c.4449T>G (p.Val1483=) c.4395T>G (p.Val1465=) c.4356T>G (p.Val1452=) c.4305T>G (p.Val1435=) c.1437T>G (p.Val479=) | |
18 | g.33744322G>A | CA402191007 | ASXL3 | c.4477G>A (p.Glu1493Lys) c.4474G>A (p.Glu1492Lys) c.4354G>A (p.Glu1452Lys) c.4450G>A (p.Glu1484Lys) c.4396G>A (p.Glu1466Lys) c.4357G>A (p.Glu1453Lys) c.4306G>A (p.Glu1436Lys) c.1438G>A (p.Glu480Lys) | |
18 | g.33744322G>C | CA402191008 | ASXL3 | c.4477G>C (p.Glu1493Gln) c.4474G>C (p.Glu1492Gln) c.4354G>C (p.Glu1452Gln) c.4450G>C (p.Glu1484Gln) c.4396G>C (p.Glu1466Gln) c.4357G>C (p.Glu1453Gln) c.4306G>C (p.Glu1436Gln) c.1438G>C (p.Glu480Gln) | |
18 | g.33744322G>T | CA402191009 | ASXL3 | c.4477G>T (p.Glu1493Ter) c.4474G>T (p.Glu1492Ter) c.4354G>T (p.Glu1452Ter) c.4450G>T (p.Glu1484Ter) c.4396G>T (p.Glu1466Ter) c.4357G>T (p.Glu1453Ter) c.4306G>T (p.Glu1436Ter) c.1438G>T (p.Glu480Ter) | |
18 | g.33744323A>C | CA402191012 | ASXL3 | c.4478A>C (p.Glu1493Ala) c.4475A>C (p.Glu1492Ala) c.4355A>C (p.Glu1452Ala) c.4451A>C (p.Glu1484Ala) c.4397A>C (p.Glu1466Ala) c.4358A>C (p.Glu1453Ala) c.4307A>C (p.Glu1436Ala) c.1439A>C (p.Glu480Ala) | |
18 | g.33744323A>G | CA402191010 | ASXL3 | c.4478A>G (p.Glu1493Gly) c.4475A>G (p.Glu1492Gly) c.4355A>G (p.Glu1452Gly) c.4451A>G (p.Glu1484Gly) c.4397A>G (p.Glu1466Gly) c.4358A>G (p.Glu1453Gly) c.4307A>G (p.Glu1436Gly) c.1439A>G (p.Glu480Gly) | |
18 | g.33744323A>T | CA402191011 | ASXL3 | c.4478A>T (p.Glu1493Val) c.4475A>T (p.Glu1492Val) c.4355A>T (p.Glu1452Val) c.4451A>T (p.Glu1484Val) c.4397A>T (p.Glu1466Val) c.4358A>T (p.Glu1453Val) c.4307A>T (p.Glu1436Val) c.1439A>T (p.Glu480Val) | |
18 | g.33744324A>C | CA402191013 | ASXL3 | c.4479A>C (p.Glu1493Asp) c.4476A>C (p.Glu1492Asp) c.4356A>C (p.Glu1452Asp) c.4452A>C (p.Glu1484Asp) c.4398A>C (p.Glu1466Asp) c.4359A>C (p.Glu1453Asp) c.4308A>C (p.Glu1436Asp) c.1440A>C (p.Glu480Asp) | |
18 | g.33744324A>G | CA503770425 | ASXL3 | c.4479A>G (p.Glu1493=) c.4476A>G (p.Glu1492=) c.4356A>G (p.Glu1452=) c.4452A>G (p.Glu1484=) c.4398A>G (p.Glu1466=) c.4359A>G (p.Glu1453=) c.4308A>G (p.Glu1436=) c.1440A>G (p.Glu480=) | |
18 | g.33744324A>T | CA402191014 | ASXL3 | c.4479A>T (p.Glu1493Asp) c.4476A>T (p.Glu1492Asp) c.4356A>T (p.Glu1452Asp) c.4452A>T (p.Glu1484Asp) c.4398A>T (p.Glu1466Asp) c.4359A>T (p.Glu1453Asp) c.4308A>T (p.Glu1436Asp) c.1440A>T (p.Glu480Asp) | |
18 | g.33744325A>C | CA402191015 | ASXL3 | c.4480A>C (p.Ser1494Arg) c.4477A>C (p.Ser1493Arg) c.4357A>C (p.Ser1453Arg) c.4453A>C (p.Ser1485Arg) c.4399A>C (p.Ser1467Arg) c.4360A>C (p.Ser1454Arg) c.4309A>C (p.Ser1437Arg) c.1441A>C (p.Ser481Arg) | |
18 | g.33744325A>G | CA402191016 | ASXL3 | c.4480A>G (p.Ser1494Gly) c.4477A>G (p.Ser1493Gly) c.4357A>G (p.Ser1453Gly) c.4453A>G (p.Ser1485Gly) c.4399A>G (p.Ser1467Gly) c.4360A>G (p.Ser1454Gly) c.4309A>G (p.Ser1437Gly) c.1441A>G (p.Ser481Gly) | |
18 | g.33744325A>T | CA402191017 | ASXL3 | c.4480A>T (p.Ser1494Cys) c.4477A>T (p.Ser1493Cys) c.4357A>T (p.Ser1453Cys) c.4453A>T (p.Ser1485Cys) c.4399A>T (p.Ser1467Cys) c.4360A>T (p.Ser1454Cys) c.4309A>T (p.Ser1437Cys) c.1441A>T (p.Ser481Cys) | |
18 | g.33744327_33744331del | CA2695227409 | ASXL3 | c.4482_4486del (p.Ser1494ArgfsTer29) c.4479_4483del (p.Ser1493ArgfsTer29) c.4359_4363del (p.Ser1453ArgfsTer29) c.4455_4459del (p.Ser1485ArgfsTer29) c.4401_4405del (p.Ser1467ArgfsTer29) c.4362_4366del (p.Ser1454ArgfsTer29) c.4311_4315del (p.Ser1437ArgfsTer29) c.1443_1447del (p.Ser481ArgfsTer29) | |
18 | g.33744326G>A | CA402191018 | ASXL3 | c.4481G>A (p.Ser1494Asn) c.4478G>A (p.Ser1493Asn) c.4358G>A (p.Ser1453Asn) c.4454G>A (p.Ser1485Asn) c.4400G>A (p.Ser1467Asn) c.4361G>A (p.Ser1454Asn) c.4310G>A (p.Ser1437Asn) c.1442G>A (p.Ser481Asn) | gnomAD v4 |
18 | g.33744326G>C | CA402191020 | ASXL3 | c.4481G>C (p.Ser1494Thr) c.4478G>C (p.Ser1493Thr) c.4358G>C (p.Ser1453Thr) c.4454G>C (p.Ser1485Thr) c.4400G>C (p.Ser1467Thr) c.4361G>C (p.Ser1454Thr) c.4310G>C (p.Ser1437Thr) c.1442G>C (p.Ser481Thr) | |
18 | g.33744326G>T | CA402191019 | ASXL3 | c.4481G>T (p.Ser1494Ile) c.4478G>T (p.Ser1493Ile) c.4358G>T (p.Ser1453Ile) c.4454G>T (p.Ser1485Ile) c.4400G>T (p.Ser1467Ile) c.4361G>T (p.Ser1454Ile) c.4310G>T (p.Ser1437Ile) c.1442G>T (p.Ser481Ile) | |
18 | g.33744327C>A | CA402191021 | ASXL3 | c.4482C>A (p.Ser1494Arg) c.4479C>A (p.Ser1493Arg) c.4359C>A (p.Ser1453Arg) c.4455C>A (p.Ser1485Arg) c.4401C>A (p.Ser1467Arg) c.4362C>A (p.Ser1454Arg) c.4311C>A (p.Ser1437Arg) c.1443C>A (p.Ser481Arg) | |
18 | g.33744327C>G | CA402191022 | ASXL3 | c.4482C>G (p.Ser1494Arg) c.4479C>G (p.Ser1493Arg) c.4359C>G (p.Ser1453Arg) c.4455C>G (p.Ser1485Arg) c.4401C>G (p.Ser1467Arg) c.4362C>G (p.Ser1454Arg) c.4311C>G (p.Ser1437Arg) c.1443C>G (p.Ser481Arg) | gnomAD v4 |
18 | g.33744327C>T | CA503770430 | ASXL3 | c.4482C>T (p.Ser1494=) c.4479C>T (p.Ser1493=) c.4359C>T (p.Ser1453=) c.4455C>T (p.Ser1485=) c.4401C>T (p.Ser1467=) c.4362C>T (p.Ser1454=) c.4311C>T (p.Ser1437=) c.1443C>T (p.Ser481=) | |
18 | g.33744329_33744347del | CA2695227410 | ASXL3 | c.4484_4502del (p.Ser1495CysfsTer6) c.4481_4499del (p.Ser1494CysfsTer6) c.4361_4379del (p.Ser1454CysfsTer6) c.4457_4475del (p.Ser1486CysfsTer6) c.4403_4421del (p.Ser1468CysfsTer6) c.4364_4382del (p.Ser1455CysfsTer6) c.4313_4331del (p.Ser1438CysfsTer6) c.1445_1463del (p.Ser482CysfsTer6) | |
18 | g.33744328T>A | CA402191023 | ASXL3 | c.4483T>A (p.Ser1495Thr) c.4480T>A (p.Ser1494Thr) c.4360T>A (p.Ser1454Thr) c.4456T>A (p.Ser1486Thr) c.4402T>A (p.Ser1468Thr) c.4363T>A (p.Ser1455Thr) c.4312T>A (p.Ser1438Thr) c.1444T>A (p.Ser482Thr) | |
18 | g.33744328T>C | CA402191024 | ASXL3 | c.4483T>C (p.Ser1495Pro) c.4480T>C (p.Ser1494Pro) c.4360T>C (p.Ser1454Pro) c.4456T>C (p.Ser1486Pro) c.4402T>C (p.Ser1468Pro) c.4363T>C (p.Ser1455Pro) c.4312T>C (p.Ser1438Pro) c.1444T>C (p.Ser482Pro) | gnomAD v4 |
18 | g.33744328T>G | CA402191025 | ASXL3 | c.4483T>G (p.Ser1495Ala) c.4480T>G (p.Ser1494Ala) c.4360T>G (p.Ser1454Ala) c.4456T>G (p.Ser1486Ala) c.4402T>G (p.Ser1468Ala) c.4363T>G (p.Ser1455Ala) c.4312T>G (p.Ser1438Ala) c.1444T>G (p.Ser482Ala) | |
18 | g.33744329C>A | CA402191026 | ASXL3 | c.4484C>A (p.Ser1495Ter) c.4481C>A (p.Ser1494Ter) c.4361C>A (p.Ser1454Ter) c.4457C>A (p.Ser1486Ter) c.4403C>A (p.Ser1468Ter) c.4364C>A (p.Ser1455Ter) c.4313C>A (p.Ser1438Ter) c.1445C>A (p.Ser482Ter) | |
18 | g.33744329C= | CA2294858091 | ASXL3 | c.4484C= (p.Ser1495=) c.4481C= (p.Ser1494=) c.4361C= (p.Ser1454=) c.4457C= (p.Ser1486=) c.4403C= (p.Ser1468=) c.4364C= (p.Ser1455=) c.4313C= (p.Ser1438=) c.1445C= (p.Ser482=) | |
18 | g.33744329C>G | CA402191027 | ASXL3 | c.4484C>G (p.Ser1495Ter) c.4481C>G (p.Ser1494Ter) c.4361C>G (p.Ser1454Ter) c.4457C>G (p.Ser1486Ter) c.4403C>G (p.Ser1468Ter) c.4364C>G (p.Ser1455Ter) c.4313C>G (p.Ser1438Ter) c.1445C>G (p.Ser482Ter) | |
18 | g.33744329C>T | CA8934271 | ASXL3 | c.4484C>T (p.Ser1495Leu) c.4481C>T (p.Ser1494Leu) c.4361C>T (p.Ser1454Leu) c.4457C>T (p.Ser1486Leu) c.4403C>T (p.Ser1468Leu) c.4364C>T (p.Ser1455Leu) c.4313C>T (p.Ser1438Leu) c.1445C>T (p.Ser482Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744330A>C | CA503770438 | ASXL3 | c.4485A>C (p.Ser1495=) c.4482A>C (p.Ser1494=) c.4362A>C (p.Ser1454=) c.4458A>C (p.Ser1486=) c.4404A>C (p.Ser1468=) c.4365A>C (p.Ser1455=) c.4314A>C (p.Ser1438=) c.1446A>C (p.Ser482=) | ClinVar |
18 | g.33744330A>G | CA503770441 | ASXL3 | c.4485A>G (p.Ser1495=) c.4482A>G (p.Ser1494=) c.4362A>G (p.Ser1454=) c.4458A>G (p.Ser1486=) c.4404A>G (p.Ser1468=) c.4365A>G (p.Ser1455=) c.4314A>G (p.Ser1438=) c.1446A>G (p.Ser482=) | |
18 | g.33744330A>T | CA503770443 | ASXL3 | c.4485A>T (p.Ser1495=) c.4482A>T (p.Ser1494=) c.4362A>T (p.Ser1454=) c.4458A>T (p.Ser1486=) c.4404A>T (p.Ser1468=) c.4365A>T (p.Ser1455=) c.4314A>T (p.Ser1438=) c.1446A>T (p.Ser482=) | |
18 | g.33744331G>A | CA402191028 | ASXL3 | c.4486G>A (p.Glu1496Lys) c.4483G>A (p.Glu1495Lys) c.4363G>A (p.Glu1455Lys) c.4459G>A (p.Glu1487Lys) c.4405G>A (p.Glu1469Lys) c.4366G>A (p.Glu1456Lys) c.4315G>A (p.Glu1439Lys) c.1447G>A (p.Glu483Lys) | |
18 | g.33744331G>C | CA402191029 | ASXL3 | c.4486G>C (p.Glu1496Gln) c.4483G>C (p.Glu1495Gln) c.4363G>C (p.Glu1455Gln) c.4459G>C (p.Glu1487Gln) c.4405G>C (p.Glu1469Gln) c.4366G>C (p.Glu1456Gln) c.4315G>C (p.Glu1439Gln) c.1447G>C (p.Glu483Gln) | |
18 | g.33744331G>T | CA402191030 | ASXL3 | c.4486G>T (p.Glu1496Ter) c.4483G>T (p.Glu1495Ter) c.4363G>T (p.Glu1455Ter) c.4459G>T (p.Glu1487Ter) c.4405G>T (p.Glu1469Ter) c.4366G>T (p.Glu1456Ter) c.4315G>T (p.Glu1439Ter) c.1447G>T (p.Glu483Ter) | |
18 | g.33744332A>C | CA402191031 | ASXL3 | c.4487A>C (p.Glu1496Ala) c.4484A>C (p.Glu1495Ala) c.4364A>C (p.Glu1455Ala) c.4460A>C (p.Glu1487Ala) c.4406A>C (p.Glu1469Ala) c.4367A>C (p.Glu1456Ala) c.4316A>C (p.Glu1439Ala) c.1448A>C (p.Glu483Ala) | |
18 | g.33744332A>G | CA402191033 | ASXL3 | c.4487A>G (p.Glu1496Gly) c.4484A>G (p.Glu1495Gly) c.4364A>G (p.Glu1455Gly) c.4460A>G (p.Glu1487Gly) c.4406A>G (p.Glu1469Gly) c.4367A>G (p.Glu1456Gly) c.4316A>G (p.Glu1439Gly) c.1448A>G (p.Glu483Gly) | |
18 | g.33744332A>T | CA402191032 | ASXL3 | c.4487A>T (p.Glu1496Val) c.4484A>T (p.Glu1495Val) c.4364A>T (p.Glu1455Val) c.4460A>T (p.Glu1487Val) c.4406A>T (p.Glu1469Val) c.4367A>T (p.Glu1456Val) c.4316A>T (p.Glu1439Val) c.1448A>T (p.Glu483Val) | |
18 | g.33744333A>C | CA402191034 | ASXL3 | c.4488A>C (p.Glu1496Asp) c.4485A>C (p.Glu1495Asp) c.4365A>C (p.Glu1455Asp) c.4461A>C (p.Glu1487Asp) c.4407A>C (p.Glu1469Asp) c.4368A>C (p.Glu1456Asp) c.4317A>C (p.Glu1439Asp) c.1449A>C (p.Glu483Asp) | |
18 | g.33744333A>G | CA503770449 | ASXL3 | c.4488A>G (p.Glu1496=) c.4485A>G (p.Glu1495=) c.4365A>G (p.Glu1455=) c.4461A>G (p.Glu1487=) c.4407A>G (p.Glu1469=) c.4368A>G (p.Glu1456=) c.4317A>G (p.Glu1439=) c.1449A>G (p.Glu483=) | |
18 | g.33744333A>T | CA402191035 | ASXL3 | c.4488A>T (p.Glu1496Asp) c.4485A>T (p.Glu1495Asp) c.4365A>T (p.Glu1455Asp) c.4461A>T (p.Glu1487Asp) c.4407A>T (p.Glu1469Asp) c.4368A>T (p.Glu1456Asp) c.4317A>T (p.Glu1439Asp) c.1449A>T (p.Glu483Asp) | |
18 | g.33744334G>A | CA402191036 | ASXL3 | c.4489G>A (p.Ala1497Thr) c.4486G>A (p.Ala1496Thr) c.4366G>A (p.Ala1456Thr) c.4462G>A (p.Ala1488Thr) c.4408G>A (p.Ala1470Thr) c.4369G>A (p.Ala1457Thr) c.4318G>A (p.Ala1440Thr) c.1450G>A (p.Ala484Thr) | |
18 | g.33744334G>C | CA402191037 | ASXL3 | c.4489G>C (p.Ala1497Pro) c.4486G>C (p.Ala1496Pro) c.4366G>C (p.Ala1456Pro) c.4462G>C (p.Ala1488Pro) c.4408G>C (p.Ala1470Pro) c.4369G>C (p.Ala1457Pro) c.4318G>C (p.Ala1440Pro) c.1450G>C (p.Ala484Pro) | |
18 | g.33744334G>T | CA402191038 | ASXL3 | c.4489G>T (p.Ala1497Ser) c.4486G>T (p.Ala1496Ser) c.4366G>T (p.Ala1456Ser) c.4462G>T (p.Ala1488Ser) c.4408G>T (p.Ala1470Ser) c.4369G>T (p.Ala1457Ser) c.4318G>T (p.Ala1440Ser) c.1450G>T (p.Ala484Ser) | |
18 | g.33744335C>A | CA402191039 | ASXL3 | c.4490C>A (p.Ala1497Asp) c.4487C>A (p.Ala1496Asp) c.4367C>A (p.Ala1456Asp) c.4463C>A (p.Ala1488Asp) c.4409C>A (p.Ala1470Asp) c.4370C>A (p.Ala1457Asp) c.4319C>A (p.Ala1440Asp) c.1451C>A (p.Ala484Asp) | |
18 | g.33744335C>G | CA402191040 | ASXL3 | c.4490C>G (p.Ala1497Gly) c.4487C>G (p.Ala1496Gly) c.4367C>G (p.Ala1456Gly) c.4463C>G (p.Ala1488Gly) c.4409C>G (p.Ala1470Gly) c.4370C>G (p.Ala1457Gly) c.4319C>G (p.Ala1440Gly) c.1451C>G (p.Ala484Gly) | |
18 | g.33744335C>T | CA402191041 | ASXL3 | c.4490C>T (p.Ala1497Val) c.4487C>T (p.Ala1496Val) c.4367C>T (p.Ala1456Val) c.4463C>T (p.Ala1488Val) c.4409C>T (p.Ala1470Val) c.4370C>T (p.Ala1457Val) c.4319C>T (p.Ala1440Val) c.1451C>T (p.Ala484Val) | gnomAD v4 |
18 | g.33744336C>A | CA503770455 | ASXL3 | c.4491C>A (p.Ala1497=) c.4488C>A (p.Ala1496=) c.4368C>A (p.Ala1456=) c.4464C>A (p.Ala1488=) c.4410C>A (p.Ala1470=) c.4371C>A (p.Ala1457=) c.4320C>A (p.Ala1440=) c.1452C>A (p.Ala484=) | |
18 | g.33744336C= | CA2294858092 | ASXL3 | c.4491C= (p.Ala1497=) c.4488C= (p.Ala1496=) c.4368C= (p.Ala1456=) c.4464C= (p.Ala1488=) c.4410C= (p.Ala1470=) c.4371C= (p.Ala1457=) c.4320C= (p.Ala1440=) c.1452C= (p.Ala484=) | |
18 | g.33744336C>G | CA503770456 | ASXL3 | c.4491C>G (p.Ala1497=) c.4488C>G (p.Ala1496=) c.4368C>G (p.Ala1456=) c.4464C>G (p.Ala1488=) c.4410C>G (p.Ala1470=) c.4371C>G (p.Ala1457=) c.4320C>G (p.Ala1440=) c.1452C>G (p.Ala484=) | |
18 | g.33744336C>T | CA8934272 | ASXL3 | c.4491C>T (p.Ala1497=) c.4488C>T (p.Ala1496=) c.4368C>T (p.Ala1456=) c.4464C>T (p.Ala1488=) c.4410C>T (p.Ala1470=) c.4371C>T (p.Ala1457=) c.4320C>T (p.Ala1440=) c.1452C>T (p.Ala484=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744337A>C | CA402191042 | ASXL3 | c.4492A>C (p.Ser1498Arg) c.4489A>C (p.Ser1497Arg) c.4369A>C (p.Ser1457Arg) c.4465A>C (p.Ser1489Arg) c.4411A>C (p.Ser1471Arg) c.4372A>C (p.Ser1458Arg) c.4321A>C (p.Ser1441Arg) c.1453A>C (p.Ser485Arg) | |
18 | g.33744337A>G | CA402191043 | ASXL3 | c.4492A>G (p.Ser1498Gly) c.4489A>G (p.Ser1497Gly) c.4369A>G (p.Ser1457Gly) c.4465A>G (p.Ser1489Gly) c.4411A>G (p.Ser1471Gly) c.4372A>G (p.Ser1458Gly) c.4321A>G (p.Ser1441Gly) c.1453A>G (p.Ser485Gly) | gnomAD v4 |
18 | g.33744337A>T | CA402191044 | ASXL3 | c.4492A>T (p.Ser1498Cys) c.4489A>T (p.Ser1497Cys) c.4369A>T (p.Ser1457Cys) c.4465A>T (p.Ser1489Cys) c.4411A>T (p.Ser1471Cys) c.4372A>T (p.Ser1458Cys) c.4321A>T (p.Ser1441Cys) c.1453A>T (p.Ser485Cys) | |
18 | g.33744338G>A | CA402191046 | ASXL3 | c.4493G>A (p.Ser1498Asn) c.4490G>A (p.Ser1497Asn) c.4370G>A (p.Ser1457Asn) c.4466G>A (p.Ser1489Asn) c.4412G>A (p.Ser1471Asn) c.4373G>A (p.Ser1458Asn) c.4322G>A (p.Ser1441Asn) c.1454G>A (p.Ser485Asn) | |
18 | g.33744338G>C | CA8934273 | ASXL3 | c.4493G>C (p.Ser1498Thr) c.4490G>C (p.Ser1497Thr) c.4370G>C (p.Ser1457Thr) c.4466G>C (p.Ser1489Thr) c.4412G>C (p.Ser1471Thr) c.4373G>C (p.Ser1458Thr) c.4322G>C (p.Ser1441Thr) c.1454G>C (p.Ser485Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744338G= | CA2294858093 | ASXL3 | c.4493G= (p.Ser1498=) c.4490G= (p.Ser1497=) c.4370G= (p.Ser1457=) c.4466G= (p.Ser1489=) c.4412G= (p.Ser1471=) c.4373G= (p.Ser1458=) c.4322G= (p.Ser1441=) c.1454G= (p.Ser485=) | |
18 | g.33744338G>T | CA402191045 | ASXL3 | c.4493G>T (p.Ser1498Ile) c.4490G>T (p.Ser1497Ile) c.4370G>T (p.Ser1457Ile) c.4466G>T (p.Ser1489Ile) c.4412G>T (p.Ser1471Ile) c.4373G>T (p.Ser1458Ile) c.4322G>T (p.Ser1441Ile) c.1454G>T (p.Ser485Ile) | |
18 | g.33744339C>A | CA402191047 | ASXL3 | c.4494C>A (p.Ser1498Arg) c.4491C>A (p.Ser1497Arg) c.4371C>A (p.Ser1457Arg) c.4467C>A (p.Ser1489Arg) c.4413C>A (p.Ser1471Arg) c.4374C>A (p.Ser1458Arg) c.4323C>A (p.Ser1441Arg) c.1455C>A (p.Ser485Arg) | |
18 | g.33744339C>G | CA402191048 | ASXL3 | c.4494C>G (p.Ser1498Arg) c.4491C>G (p.Ser1497Arg) c.4371C>G (p.Ser1457Arg) c.4467C>G (p.Ser1489Arg) c.4413C>G (p.Ser1471Arg) c.4374C>G (p.Ser1458Arg) c.4323C>G (p.Ser1441Arg) c.1455C>G (p.Ser485Arg) | |
18 | g.33744339C>T | CA503770467 | ASXL3 | c.4494C>T (p.Ser1498=) c.4491C>T (p.Ser1497=) c.4371C>T (p.Ser1457=) c.4467C>T (p.Ser1489=) c.4413C>T (p.Ser1471=) c.4374C>T (p.Ser1458=) c.4323C>T (p.Ser1441=) c.1455C>T (p.Ser485=) | gnomAD v4 |
18 | g.33744340T>A | CA402191049 | ASXL3 | c.4495T>A (p.Leu1499Met) c.4492T>A (p.Leu1498Met) c.4372T>A (p.Leu1458Met) c.4468T>A (p.Leu1490Met) c.4414T>A (p.Leu1472Met) c.4375T>A (p.Leu1459Met) c.4324T>A (p.Leu1442Met) c.1456T>A (p.Leu486Met) | |
18 | g.33744340T>C | CA503770472 | ASXL3 | c.4495T>C (p.Leu1499=) c.4492T>C (p.Leu1498=) c.4372T>C (p.Leu1458=) c.4468T>C (p.Leu1490=) c.4414T>C (p.Leu1472=) c.4375T>C (p.Leu1459=) c.4324T>C (p.Leu1442=) c.1456T>C (p.Leu486=) | |
18 | g.33744340T>G | CA402191050 | ASXL3 | c.4495T>G (p.Leu1499Val) c.4492T>G (p.Leu1498Val) c.4372T>G (p.Leu1458Val) c.4468T>G (p.Leu1490Val) c.4414T>G (p.Leu1472Val) c.4375T>G (p.Leu1459Val) c.4324T>G (p.Leu1442Val) c.1456T>G (p.Leu486Val) | COSMIC |
18 | g.33744341T>A | CA402191051 | ASXL3 | c.4496T>A (p.Leu1499Ter) c.4493T>A (p.Leu1498Ter) c.4373T>A (p.Leu1458Ter) c.4469T>A (p.Leu1490Ter) c.4415T>A (p.Leu1472Ter) c.4376T>A (p.Leu1459Ter) c.4325T>A (p.Leu1442Ter) c.1457T>A (p.Leu486Ter) | |
18 | g.33744341T>C | CA402191052 | ASXL3 | c.4496T>C (p.Leu1499Ser) c.4493T>C (p.Leu1498Ser) c.4373T>C (p.Leu1458Ser) c.4469T>C (p.Leu1490Ser) c.4415T>C (p.Leu1472Ser) c.4376T>C (p.Leu1459Ser) c.4325T>C (p.Leu1442Ser) c.1457T>C (p.Leu486Ser) | |
18 | g.33744341T>G | CA402191053 | ASXL3 | c.4496T>G (p.Leu1499Trp) c.4493T>G (p.Leu1498Trp) c.4373T>G (p.Leu1458Trp) c.4469T>G (p.Leu1490Trp) c.4415T>G (p.Leu1472Trp) c.4376T>G (p.Leu1459Trp) c.4325T>G (p.Leu1442Trp) c.1457T>G (p.Leu486Trp) | |
18 | g.33744342G>A | CA503770483 | ASXL3 | c.4497G>A (p.Leu1499=) c.4494G>A (p.Leu1498=) c.4374G>A (p.Leu1458=) c.4470G>A (p.Leu1490=) c.4416G>A (p.Leu1472=) c.4377G>A (p.Leu1459=) c.4326G>A (p.Leu1442=) c.1458G>A (p.Leu486=) | gnomAD v4 |
18 | g.33744342G>C | CA402191054 | ASXL3 | c.4497G>C (p.Leu1499Phe) c.4494G>C (p.Leu1498Phe) c.4374G>C (p.Leu1458Phe) c.4470G>C (p.Leu1490Phe) c.4416G>C (p.Leu1472Phe) c.4377G>C (p.Leu1459Phe) c.4326G>C (p.Leu1442Phe) c.1458G>C (p.Leu486Phe) | |
18 | g.33744342G>T | CA402191055 | ASXL3 | c.4497G>T (p.Leu1499Phe) c.4494G>T (p.Leu1498Phe) c.4374G>T (p.Leu1458Phe) c.4470G>T (p.Leu1490Phe) c.4416G>T (p.Leu1472Phe) c.4377G>T (p.Leu1459Phe) c.4326G>T (p.Leu1442Phe) c.1458G>T (p.Leu486Phe) | |
18 | g.33744343G>A | CA402191056 | ASXL3 | c.4498G>A (p.Asp1500Asn) c.4495G>A (p.Asp1499Asn) c.4375G>A (p.Asp1459Asn) c.4471G>A (p.Asp1491Asn) c.4417G>A (p.Asp1473Asn) c.4378G>A (p.Asp1460Asn) c.4327G>A (p.Asp1443Asn) c.1459G>A (p.Asp487Asn) | gnomAD v4 |
18 | g.33744343G>C | CA402191057 | ASXL3 | c.4498G>C (p.Asp1500His) c.4495G>C (p.Asp1499His) c.4375G>C (p.Asp1459His) c.4471G>C (p.Asp1491His) c.4417G>C (p.Asp1473His) c.4378G>C (p.Asp1460His) c.4327G>C (p.Asp1443His) c.1459G>C (p.Asp487His) | |
18 | g.33744343G>T | CA402191058 | ASXL3 | c.4498G>T (p.Asp1500Tyr) c.4495G>T (p.Asp1499Tyr) c.4375G>T (p.Asp1459Tyr) c.4471G>T (p.Asp1491Tyr) c.4417G>T (p.Asp1473Tyr) c.4378G>T (p.Asp1460Tyr) c.4327G>T (p.Asp1443Tyr) c.1459G>T (p.Asp487Tyr) | |
18 | g.33744344A= | CA2294858094 | ASXL3 | c.4499A= (p.Asp1500=) c.4496A= (p.Asp1499=) c.4376A= (p.Asp1459=) c.4472A= (p.Asp1491=) c.4418A= (p.Asp1473=) c.4379A= (p.Asp1460=) c.4328A= (p.Asp1443=) c.1460A= (p.Asp487=) | |
18 | g.33744344A>C | CA402191060 | ASXL3 | c.4499A>C (p.Asp1500Ala) c.4496A>C (p.Asp1499Ala) c.4376A>C (p.Asp1459Ala) c.4472A>C (p.Asp1491Ala) c.4418A>C (p.Asp1473Ala) c.4379A>C (p.Asp1460Ala) c.4328A>C (p.Asp1443Ala) c.1460A>C (p.Asp487Ala) | |
18 | g.33744344A>G | CA402191061 | ASXL3 | c.4499A>G (p.Asp1500Gly) c.4496A>G (p.Asp1499Gly) c.4376A>G (p.Asp1459Gly) c.4472A>G (p.Asp1491Gly) c.4418A>G (p.Asp1473Gly) c.4379A>G (p.Asp1460Gly) c.4328A>G (p.Asp1443Gly) c.1460A>G (p.Asp487Gly) | dbSNP |
18 | g.33744344A>T | CA402191059 | ASXL3 | c.4499A>T (p.Asp1500Val) c.4496A>T (p.Asp1499Val) c.4376A>T (p.Asp1459Val) c.4472A>T (p.Asp1491Val) c.4418A>T (p.Asp1473Val) c.4379A>T (p.Asp1460Val) c.4328A>T (p.Asp1443Val) c.1460A>T (p.Asp487Val) | |
18 | g.33744345C>A | CA402191062 | ASXL3 | c.4500C>A (p.Asp1500Glu) c.4497C>A (p.Asp1499Glu) c.4377C>A (p.Asp1459Glu) c.4473C>A (p.Asp1491Glu) c.4419C>A (p.Asp1473Glu) c.4380C>A (p.Asp1460Glu) c.4329C>A (p.Asp1443Glu) c.1461C>A (p.Asp487Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744345C= | CA2294858095 | ASXL3 | c.4500C= (p.Asp1500=) c.4497C= (p.Asp1499=) c.4377C= (p.Asp1459=) c.4473C= (p.Asp1491=) c.4419C= (p.Asp1473=) c.4380C= (p.Asp1460=) c.4329C= (p.Asp1443=) c.1461C= (p.Asp487=) | |
18 | g.33744345C>G | CA402191063 | ASXL3 | c.4500C>G (p.Asp1500Glu) c.4497C>G (p.Asp1499Glu) c.4377C>G (p.Asp1459Glu) c.4473C>G (p.Asp1491Glu) c.4419C>G (p.Asp1473Glu) c.4380C>G (p.Asp1460Glu) c.4329C>G (p.Asp1443Glu) c.1461C>G (p.Asp487Glu) | |
18 | g.33744345C>T | CA503770488 | ASXL3 | c.4500C>T (p.Asp1500=) c.4497C>T (p.Asp1499=) c.4377C>T (p.Asp1459=) c.4473C>T (p.Asp1491=) c.4419C>T (p.Asp1473=) c.4380C>T (p.Asp1460=) c.4329C>T (p.Asp1443=) c.1461C>T (p.Asp487=) | dbSNP |
18 | g.33744346C>A | CA402191064 | ASXL3 | c.4501C>A (p.Leu1501Met) c.4498C>A (p.Leu1500Met) c.4378C>A (p.Leu1460Met) c.4474C>A (p.Leu1492Met) c.4420C>A (p.Leu1474Met) c.4381C>A (p.Leu1461Met) c.4330C>A (p.Leu1444Met) c.1462C>A (p.Leu488Met) | |
18 | g.33744346C= | CA2294858096 | ASXL3 | c.4501C= (p.Leu1501=) c.4498C= (p.Leu1500=) c.4378C= (p.Leu1460=) c.4474C= (p.Leu1492=) c.4420C= (p.Leu1474=) c.4381C= (p.Leu1461=) c.4330C= (p.Leu1444=) c.1462C= (p.Leu488=) | |
18 | g.33744346C>G | CA402191065 | ASXL3 | c.4501C>G (p.Leu1501Val) c.4498C>G (p.Leu1500Val) c.4378C>G (p.Leu1460Val) c.4474C>G (p.Leu1492Val) c.4420C>G (p.Leu1474Val) c.4381C>G (p.Leu1461Val) c.4330C>G (p.Leu1444Val) c.1462C>G (p.Leu488Val) | |
18 | g.33744346C>T | CA8934274 | ASXL3 | c.4501C>T (p.Leu1501=) c.4498C>T (p.Leu1500=) c.4378C>T (p.Leu1460=) c.4474C>T (p.Leu1492=) c.4420C>T (p.Leu1474=) c.4381C>T (p.Leu1461=) c.4330C>T (p.Leu1444=) c.1462C>T (p.Leu488=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744347T>A | CA402191066 | ASXL3 | c.4502T>A (p.Leu1501Gln) c.4499T>A (p.Leu1500Gln) c.4379T>A (p.Leu1460Gln) c.4475T>A (p.Leu1492Gln) c.4421T>A (p.Leu1474Gln) c.4382T>A (p.Leu1461Gln) c.4331T>A (p.Leu1444Gln) c.1463T>A (p.Leu488Gln) | |
18 | g.33744347T>C | CA402191067 | ASXL3 | c.4502T>C (p.Leu1501Pro) c.4499T>C (p.Leu1500Pro) c.4379T>C (p.Leu1460Pro) c.4475T>C (p.Leu1492Pro) c.4421T>C (p.Leu1474Pro) c.4382T>C (p.Leu1461Pro) c.4331T>C (p.Leu1444Pro) c.1463T>C (p.Leu488Pro) | |
18 | g.33744347T>G | CA402191068 | ASXL3 | c.4502T>G (p.Leu1501Arg) c.4499T>G (p.Leu1500Arg) c.4379T>G (p.Leu1460Arg) c.4475T>G (p.Leu1492Arg) c.4421T>G (p.Leu1474Arg) c.4382T>G (p.Leu1461Arg) c.4331T>G (p.Leu1444Arg) c.1463T>G (p.Leu488Arg) | gnomAD v4 |
18 | g.33744348G>A | CA503770496 | ASXL3 | c.4503G>A (p.Leu1501=) c.4500G>A (p.Leu1500=) c.4380G>A (p.Leu1460=) c.4476G>A (p.Leu1492=) c.4422G>A (p.Leu1474=) c.4383G>A (p.Leu1461=) c.4332G>A (p.Leu1444=) c.1464G>A (p.Leu488=) | |
18 | g.33744348G>C | CA503770493 | ASXL3 | c.4503G>C (p.Leu1501=) c.4500G>C (p.Leu1500=) c.4380G>C (p.Leu1460=) c.4476G>C (p.Leu1492=) c.4422G>C (p.Leu1474=) c.4383G>C (p.Leu1461=) c.4332G>C (p.Leu1444=) c.1464G>C (p.Leu488=) | |
18 | g.33744348G>T | CA503770494 | ASXL3 | c.4503G>T (p.Leu1501=) c.4500G>T (p.Leu1500=) c.4380G>T (p.Leu1460=) c.4476G>T (p.Leu1492=) c.4422G>T (p.Leu1474=) c.4383G>T (p.Leu1461=) c.4332G>T (p.Leu1444=) c.1464G>T (p.Leu488=) | gnomAD v4 COSMIC |
18 | g.33744349C>A | CA402191069 | ASXL3 | c.4504C>A (p.Gln1502Lys) c.4501C>A (p.Gln1501Lys) c.4381C>A (p.Gln1461Lys) c.4477C>A (p.Gln1493Lys) c.4423C>A (p.Gln1475Lys) c.4384C>A (p.Gln1462Lys) c.4333C>A (p.Gln1445Lys) c.1465C>A (p.Gln489Lys) | |
18 | g.33744349C>G | CA402191070 | ASXL3 | c.4504C>G (p.Gln1502Glu) c.4501C>G (p.Gln1501Glu) c.4381C>G (p.Gln1461Glu) c.4477C>G (p.Gln1493Glu) c.4423C>G (p.Gln1475Glu) c.4384C>G (p.Gln1462Glu) c.4333C>G (p.Gln1445Glu) c.1465C>G (p.Gln489Glu) | |
18 | g.33744349C>T | CA402191071 | ASXL3 | c.4504C>T (p.Gln1502Ter) c.4501C>T (p.Gln1501Ter) c.4381C>T (p.Gln1461Ter) c.4477C>T (p.Gln1493Ter) c.4423C>T (p.Gln1475Ter) c.4384C>T (p.Gln1462Ter) c.4333C>T (p.Gln1445Ter) c.1465C>T (p.Gln489Ter) | |
18 | g.33744350A>C | CA402191072 | ASXL3 | c.4505A>C (p.Gln1502Pro) c.4502A>C (p.Gln1501Pro) c.4382A>C (p.Gln1461Pro) c.4478A>C (p.Gln1493Pro) c.4424A>C (p.Gln1475Pro) c.4385A>C (p.Gln1462Pro) c.4334A>C (p.Gln1445Pro) c.1466A>C (p.Gln489Pro) | |
18 | g.33744350A>G | CA402191073 | ASXL3 | c.4505A>G (p.Gln1502Arg) c.4502A>G (p.Gln1501Arg) c.4382A>G (p.Gln1461Arg) c.4478A>G (p.Gln1493Arg) c.4424A>G (p.Gln1475Arg) c.4385A>G (p.Gln1462Arg) c.4334A>G (p.Gln1445Arg) c.1466A>G (p.Gln489Arg) | |
18 | g.33744350A>T | CA402191074 | ASXL3 | c.4505A>T (p.Gln1502Leu) c.4502A>T (p.Gln1501Leu) c.4382A>T (p.Gln1461Leu) c.4478A>T (p.Gln1493Leu) c.4424A>T (p.Gln1475Leu) c.4385A>T (p.Gln1462Leu) c.4334A>T (p.Gln1445Leu) c.1466A>T (p.Gln489Leu) | |
18 | g.33744351G>A | CA503770500 | ASXL3 | c.4506G>A (p.Gln1502=) c.4503G>A (p.Gln1501=) c.4383G>A (p.Gln1461=) c.4479G>A (p.Gln1493=) c.4425G>A (p.Gln1475=) c.4386G>A (p.Gln1462=) c.4335G>A (p.Gln1445=) c.1467G>A (p.Gln489=) | |
18 | g.33744351G>C | CA402191075 | ASXL3 | c.4506G>C (p.Gln1502His) c.4503G>C (p.Gln1501His) c.4383G>C (p.Gln1461His) c.4479G>C (p.Gln1493His) c.4425G>C (p.Gln1475His) c.4386G>C (p.Gln1462His) c.4335G>C (p.Gln1445His) c.1467G>C (p.Gln489His) | |
18 | g.33744351G>T | CA402191076 | ASXL3 | c.4506G>T (p.Gln1502His) c.4503G>T (p.Gln1501His) c.4383G>T (p.Gln1461His) c.4479G>T (p.Gln1493His) c.4425G>T (p.Gln1475His) c.4386G>T (p.Gln1462His) c.4335G>T (p.Gln1445His) c.1467G>T (p.Gln489His) | |
18 | g.33744352G>A | CA402191077 | ASXL3 | c.4507G>A (p.Gly1503Ser) c.4504G>A (p.Gly1502Ser) c.4384G>A (p.Gly1462Ser) c.4480G>A (p.Gly1494Ser) c.4426G>A (p.Gly1476Ser) c.4387G>A (p.Gly1463Ser) c.4336G>A (p.Gly1446Ser) c.1468G>A (p.Gly490Ser) | |
18 | g.33744352G>C | CA402191078 | ASXL3 | c.4507G>C (p.Gly1503Arg) c.4504G>C (p.Gly1502Arg) c.4384G>C (p.Gly1462Arg) c.4480G>C (p.Gly1494Arg) c.4426G>C (p.Gly1476Arg) c.4387G>C (p.Gly1463Arg) c.4336G>C (p.Gly1446Arg) c.1468G>C (p.Gly490Arg) | |
18 | g.33744352G= | CA2294858097 | ASXL3 | c.4507G= (p.Gly1503=) c.4504G= (p.Gly1502=) c.4384G= (p.Gly1462=) c.4480G= (p.Gly1494=) c.4426G= (p.Gly1476=) c.4387G= (p.Gly1463=) c.4336G= (p.Gly1446=) c.1468G= (p.Gly490=) | |
18 | g.33744352G>T | CA402191079 | ASXL3 | c.4507G>T (p.Gly1503Cys) c.4504G>T (p.Gly1502Cys) c.4384G>T (p.Gly1462Cys) c.4480G>T (p.Gly1494Cys) c.4426G>T (p.Gly1476Cys) c.4387G>T (p.Gly1463Cys) c.4336G>T (p.Gly1446Cys) c.1468G>T (p.Gly490Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.33744353G>A | CA297793641 | ASXL3 | c.4508G>A (p.Gly1503Asp) c.4505G>A (p.Gly1502Asp) c.4385G>A (p.Gly1462Asp) c.4481G>A (p.Gly1494Asp) c.4427G>A (p.Gly1476Asp) c.4388G>A (p.Gly1463Asp) c.4337G>A (p.Gly1446Asp) c.1469G>A (p.Gly490Asp) | dbSNP |
18 | g.33744353G>C | CA402191080 | ASXL3 | c.4508G>C (p.Gly1503Ala) c.4505G>C (p.Gly1502Ala) c.4385G>C (p.Gly1462Ala) c.4481G>C (p.Gly1494Ala) c.4427G>C (p.Gly1476Ala) c.4388G>C (p.Gly1463Ala) c.4337G>C (p.Gly1446Ala) c.1469G>C (p.Gly490Ala) | |
18 | g.33744353G= | CA2294858098 | ASXL3 | c.4508G= (p.Gly1503=) c.4505G= (p.Gly1502=) c.4385G= (p.Gly1462=) c.4481G= (p.Gly1494=) c.4427G= (p.Gly1476=) c.4388G= (p.Gly1463=) c.4337G= (p.Gly1446=) c.1469G= (p.Gly490=) | |
18 | g.33744353G>T | CA402191081 | ASXL3 | c.4508G>T (p.Gly1503Val) c.4505G>T (p.Gly1502Val) c.4385G>T (p.Gly1462Val) c.4481G>T (p.Gly1494Val) c.4427G>T (p.Gly1476Val) c.4388G>T (p.Gly1463Val) c.4337G>T (p.Gly1446Val) c.1469G>T (p.Gly490Val) | |
18 | g.33744354C>A | CA503770506 | ASXL3 | c.4509C>A (p.Gly1503=) c.4506C>A (p.Gly1502=) c.4386C>A (p.Gly1462=) c.4482C>A (p.Gly1494=) c.4428C>A (p.Gly1476=) c.4389C>A (p.Gly1463=) c.4338C>A (p.Gly1446=) c.1470C>A (p.Gly490=) | gnomAD v4 |
18 | g.33744354C= | CA2294858099 | ASXL3 | c.4509C= (p.Gly1503=) c.4506C= (p.Gly1502=) c.4386C= (p.Gly1462=) c.4482C= (p.Gly1494=) c.4428C= (p.Gly1476=) c.4389C= (p.Gly1463=) c.4338C= (p.Gly1446=) c.1470C= (p.Gly490=) | |
18 | g.33744354C>G | CA503770507 | ASXL3 | c.4509C>G (p.Gly1503=) c.4506C>G (p.Gly1502=) c.4386C>G (p.Gly1462=) c.4482C>G (p.Gly1494=) c.4428C>G (p.Gly1476=) c.4389C>G (p.Gly1463=) c.4338C>G (p.Gly1446=) c.1470C>G (p.Gly490=) | |
18 | g.33744354C>T | CA503770509 | ASXL3 | c.4509C>T (p.Gly1503=) c.4506C>T (p.Gly1502=) c.4386C>T (p.Gly1462=) c.4482C>T (p.Gly1494=) c.4428C>T (p.Gly1476=) c.4389C>T (p.Gly1463=) c.4338C>T (p.Gly1446=) c.1470C>T (p.Gly490=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744357_33744361dup | CA658799035 | ASXL3 | c.4512_4516dup (p.Val1506AspfsTer3) c.4509_4513dup (p.Val1505AspfsTer3) c.4389_4393dup (p.Val1465AspfsTer3) c.4485_4489dup (p.Val1497AspfsTer3) c.4431_4435dup (p.Val1479AspfsTer3) c.4392_4396dup (p.Val1466AspfsTer3) c.4341_4345dup (p.Val1449AspfsTer3) c.1473_1477dup (p.Val493AspfsTer3) | ClinVar dbSNP |
18 | g.33744355A>C | CA503770511 | ASXL3 | c.4510A>C (p.Arg1504=) c.4507A>C (p.Arg1503=) c.4387A>C (p.Arg1463=) c.4483A>C (p.Arg1495=) c.4429A>C (p.Arg1477=) c.4390A>C (p.Arg1464=) c.4339A>C (p.Arg1447=) c.1471A>C (p.Arg491=) | |
18 | g.33744355A>G | CA402191082 | ASXL3 | c.4510A>G (p.Arg1504Gly) c.4507A>G (p.Arg1503Gly) c.4387A>G (p.Arg1463Gly) c.4483A>G (p.Arg1495Gly) c.4429A>G (p.Arg1477Gly) c.4390A>G (p.Arg1464Gly) c.4339A>G (p.Arg1447Gly) c.1471A>G (p.Arg491Gly) | |
18 | g.33744355A>T | CA402191083 | ASXL3 | c.4510A>T (p.Arg1504Ter) c.4507A>T (p.Arg1503Ter) c.4387A>T (p.Arg1463Ter) c.4483A>T (p.Arg1495Ter) c.4429A>T (p.Arg1477Ter) c.4390A>T (p.Arg1464Ter) c.4339A>T (p.Arg1447Ter) c.1471A>T (p.Arg491Ter) | |
18 | g.33744356G>A | CA402191084 | ASXL3 | c.4511G>A (p.Arg1504Lys) c.4508G>A (p.Arg1503Lys) c.4388G>A (p.Arg1463Lys) c.4484G>A (p.Arg1495Lys) c.4430G>A (p.Arg1477Lys) c.4391G>A (p.Arg1464Lys) c.4340G>A (p.Arg1447Lys) c.1472G>A (p.Arg491Lys) | |
18 | g.33744356G>C | CA402191085 | ASXL3 | c.4511G>C (p.Arg1504Thr) c.4508G>C (p.Arg1503Thr) c.4388G>C (p.Arg1463Thr) c.4484G>C (p.Arg1495Thr) c.4430G>C (p.Arg1477Thr) c.4391G>C (p.Arg1464Thr) c.4340G>C (p.Arg1447Thr) c.1472G>C (p.Arg491Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744356G>T | CA402191086 | ASXL3 | c.4511G>T (p.Arg1504Ile) c.4508G>T (p.Arg1503Ile) c.4388G>T (p.Arg1463Ile) c.4484G>T (p.Arg1495Ile) c.4430G>T (p.Arg1477Ile) c.4391G>T (p.Arg1464Ile) c.4340G>T (p.Arg1447Ile) c.1472G>T (p.Arg491Ile) | |
18 | g.33744357A>C | CA402191087 | ASXL3 | c.4512A>C (p.Arg1504Ser) c.4509A>C (p.Arg1503Ser) c.4389A>C (p.Arg1463Ser) c.4485A>C (p.Arg1495Ser) c.4431A>C (p.Arg1477Ser) c.4392A>C (p.Arg1464Ser) c.4341A>C (p.Arg1447Ser) c.1473A>C (p.Arg491Ser) | |
18 | g.33744357A>G | CA503770514 | ASXL3 | c.4512A>G (p.Arg1504=) c.4509A>G (p.Arg1503=) c.4389A>G (p.Arg1463=) c.4485A>G (p.Arg1495=) c.4431A>G (p.Arg1477=) c.4392A>G (p.Arg1464=) c.4341A>G (p.Arg1447=) c.1473A>G (p.Arg491=) | |
18 | g.33744357A>T | CA402191088 | ASXL3 | c.4512A>T (p.Arg1504Ser) c.4509A>T (p.Arg1503Ser) c.4389A>T (p.Arg1463Ser) c.4485A>T (p.Arg1495Ser) c.4431A>T (p.Arg1477Ser) c.4392A>T (p.Arg1464Ser) c.4341A>T (p.Arg1447Ser) c.1473A>T (p.Arg491Ser) | |
18 | g.33744358C>A | CA402191090 | ASXL3 | c.4513C>A (p.Pro1505Thr) c.4510C>A (p.Pro1504Thr) c.4390C>A (p.Pro1464Thr) c.4486C>A (p.Pro1496Thr) c.4432C>A (p.Pro1478Thr) c.4393C>A (p.Pro1465Thr) c.4342C>A (p.Pro1448Thr) c.1474C>A (p.Pro492Thr) | |
18 | g.33744358C= | CA2294858100 | ASXL3 | c.4513C= (p.Pro1505=) c.4510C= (p.Pro1504=) c.4390C= (p.Pro1464=) c.4486C= (p.Pro1496=) c.4432C= (p.Pro1478=) c.4393C= (p.Pro1465=) c.4342C= (p.Pro1448=) c.1474C= (p.Pro492=) | |
18 | g.33744358C>G | CA402191091 | ASXL3 | c.4513C>G (p.Pro1505Ala) c.4510C>G (p.Pro1504Ala) c.4390C>G (p.Pro1464Ala) c.4486C>G (p.Pro1496Ala) c.4432C>G (p.Pro1478Ala) c.4393C>G (p.Pro1465Ala) c.4342C>G (p.Pro1448Ala) c.1474C>G (p.Pro492Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744358C>T | CA402191089 | ASXL3 | c.4513C>T (p.Pro1505Ser) c.4510C>T (p.Pro1504Ser) c.4390C>T (p.Pro1464Ser) c.4486C>T (p.Pro1496Ser) c.4432C>T (p.Pro1478Ser) c.4393C>T (p.Pro1465Ser) c.4342C>T (p.Pro1448Ser) c.1474C>T (p.Pro492Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744359C>A | CA402191092 | ASXL3 | c.4514C>A (p.Pro1505Gln) c.4511C>A (p.Pro1504Gln) c.4391C>A (p.Pro1464Gln) c.4487C>A (p.Pro1496Gln) c.4433C>A (p.Pro1478Gln) c.4394C>A (p.Pro1465Gln) c.4343C>A (p.Pro1448Gln) c.1475C>A (p.Pro492Gln) | dbSNP |
18 | g.33744359C= | CA2294858101 | ASXL3 | c.4514C= (p.Pro1505=) c.4511C= (p.Pro1504=) c.4391C= (p.Pro1464=) c.4487C= (p.Pro1496=) c.4433C= (p.Pro1478=) c.4394C= (p.Pro1465=) c.4343C= (p.Pro1448=) c.1475C= (p.Pro492=) | |
18 | g.33744359C>G | CA402191094 | ASXL3 | c.4514C>G (p.Pro1505Arg) c.4511C>G (p.Pro1504Arg) c.4391C>G (p.Pro1464Arg) c.4487C>G (p.Pro1496Arg) c.4433C>G (p.Pro1478Arg) c.4394C>G (p.Pro1465Arg) c.4343C>G (p.Pro1448Arg) c.1475C>G (p.Pro492Arg) | |
18 | g.33744359C>T | CA402191093 | ASXL3 | c.4514C>T (p.Pro1505Leu) c.4511C>T (p.Pro1504Leu) c.4391C>T (p.Pro1464Leu) c.4487C>T (p.Pro1496Leu) c.4433C>T (p.Pro1478Leu) c.4394C>T (p.Pro1465Leu) c.4343C>T (p.Pro1448Leu) c.1475C>T (p.Pro492Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744360A>C | CA503770520 | ASXL3 | c.4515A>C (p.Pro1505=) c.4512A>C (p.Pro1504=) c.4392A>C (p.Pro1464=) c.4488A>C (p.Pro1496=) c.4434A>C (p.Pro1478=) c.4395A>C (p.Pro1465=) c.4344A>C (p.Pro1448=) c.1476A>C (p.Pro492=) | gnomAD v4 |
18 | g.33744360A>G | CA503770521 | ASXL3 | c.4515A>G (p.Pro1505=) c.4512A>G (p.Pro1504=) c.4392A>G (p.Pro1464=) c.4488A>G (p.Pro1496=) c.4434A>G (p.Pro1478=) c.4395A>G (p.Pro1465=) c.4344A>G (p.Pro1448=) c.1476A>G (p.Pro492=) | gnomAD v4 |
18 | g.33744360A>T | CA503770522 | ASXL3 | c.4515A>T (p.Pro1505=) c.4512A>T (p.Pro1504=) c.4392A>T (p.Pro1464=) c.4488A>T (p.Pro1496=) c.4434A>T (p.Pro1478=) c.4395A>T (p.Pro1465=) c.4344A>T (p.Pro1448=) c.1476A>T (p.Pro492=) | |
18 | g.33744361G>A | CA8934275 | ASXL3 | c.4516G>A (p.Val1506Met) c.4513G>A (p.Val1505Met) c.4393G>A (p.Val1465Met) c.4489G>A (p.Val1497Met) c.4435G>A (p.Val1479Met) c.4396G>A (p.Val1466Met) c.4345G>A (p.Val1449Met) c.1477G>A (p.Val493Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744361G>C | CA402191096 | ASXL3 | c.4516G>C (p.Val1506Leu) c.4513G>C (p.Val1505Leu) c.4393G>C (p.Val1465Leu) c.4489G>C (p.Val1497Leu) c.4435G>C (p.Val1479Leu) c.4396G>C (p.Val1466Leu) c.4345G>C (p.Val1449Leu) c.1477G>C (p.Val493Leu) | |
18 | g.33744361G= | CA2294858102 | ASXL3 | c.4516G= (p.Val1506=) c.4513G= (p.Val1505=) c.4393G= (p.Val1465=) c.4489G= (p.Val1497=) c.4435G= (p.Val1479=) c.4396G= (p.Val1466=) c.4345G= (p.Val1449=) c.1477G= (p.Val493=) | |
18 | g.33744361G>T | CA402191095 | ASXL3 | c.4516G>T (p.Val1506Leu) c.4513G>T (p.Val1505Leu) c.4393G>T (p.Val1465Leu) c.4489G>T (p.Val1497Leu) c.4435G>T (p.Val1479Leu) c.4396G>T (p.Val1466Leu) c.4345G>T (p.Val1449Leu) c.1477G>T (p.Val493Leu) | |
18 | g.33744362T>A | CA402191097 | ASXL3 | c.4517T>A (p.Val1506Glu) c.4514T>A (p.Val1505Glu) c.4394T>A (p.Val1465Glu) c.4490T>A (p.Val1497Glu) c.4436T>A (p.Val1479Glu) c.4397T>A (p.Val1466Glu) c.4346T>A (p.Val1449Glu) c.1478T>A (p.Val493Glu) | |
18 | g.33744362T>C | CA402191099 | ASXL3 | c.4517T>C (p.Val1506Ala) c.4514T>C (p.Val1505Ala) c.4394T>C (p.Val1465Ala) c.4490T>C (p.Val1497Ala) c.4436T>C (p.Val1479Ala) c.4397T>C (p.Val1466Ala) c.4346T>C (p.Val1449Ala) c.1478T>C (p.Val493Ala) | gnomAD v4 |
18 | g.33744362T>G | CA402191098 | ASXL3 | c.4517T>G (p.Val1506Gly) c.4514T>G (p.Val1505Gly) c.4394T>G (p.Val1465Gly) c.4490T>G (p.Val1497Gly) c.4436T>G (p.Val1479Gly) c.4397T>G (p.Val1466Gly) c.4346T>G (p.Val1449Gly) c.1478T>G (p.Val493Gly) | |
18 | g.33744363G>A | CA503770532 | ASXL3 | c.4518G>A (p.Val1506=) c.4515G>A (p.Val1505=) c.4395G>A (p.Val1465=) c.4491G>A (p.Val1497=) c.4437G>A (p.Val1479=) c.4398G>A (p.Val1466=) c.4347G>A (p.Val1449=) c.1479G>A (p.Val493=) | |
18 | g.33744363G>C | CA503770533 | ASXL3 | c.4518G>C (p.Val1506=) c.4515G>C (p.Val1505=) c.4395G>C (p.Val1465=) c.4491G>C (p.Val1497=) c.4437G>C (p.Val1479=) c.4398G>C (p.Val1466=) c.4347G>C (p.Val1449=) c.1479G>C (p.Val493=) | |
18 | g.33744363G>T | CA503770535 | ASXL3 | c.4518G>T (p.Val1506=) c.4515G>T (p.Val1505=) c.4395G>T (p.Val1465=) c.4491G>T (p.Val1497=) c.4437G>T (p.Val1479=) c.4398G>T (p.Val1466=) c.4347G>T (p.Val1449=) c.1479G>T (p.Val493=) | |
18 | g.33744363dup | CA2840295270 | ASXL3 | c.4518dup (p.Arg1507GlufsTer18) c.4515dup (p.Arg1506GlufsTer18) c.4395dup (p.Arg1466GlufsTer18) c.4491dup (p.Arg1498GlufsTer18) c.4437dup (p.Arg1480GlufsTer18) c.4398dup (p.Arg1467GlufsTer18) c.4347dup (p.Arg1450GlufsTer18) c.1479dup (p.Arg494GlufsTer18) | |
18 | g.33744364A>C | CA503770538 | ASXL3 | c.4519A>C (p.Arg1507=) c.4516A>C (p.Arg1506=) c.4396A>C (p.Arg1466=) c.4492A>C (p.Arg1498=) c.4438A>C (p.Arg1480=) c.4399A>C (p.Arg1467=) c.4348A>C (p.Arg1450=) c.1480A>C (p.Arg494=) | |
18 | g.33744364A>G | CA402191100 | ASXL3 | c.4519A>G (p.Arg1507Gly) c.4516A>G (p.Arg1506Gly) c.4396A>G (p.Arg1466Gly) c.4492A>G (p.Arg1498Gly) c.4438A>G (p.Arg1480Gly) c.4399A>G (p.Arg1467Gly) c.4348A>G (p.Arg1450Gly) c.1480A>G (p.Arg494Gly) | |
18 | g.33744364A>T | CA402191101 | ASXL3 | c.4519A>T (p.Arg1507Trp) c.4516A>T (p.Arg1506Trp) c.4396A>T (p.Arg1466Trp) c.4492A>T (p.Arg1498Trp) c.4438A>T (p.Arg1480Trp) c.4399A>T (p.Arg1467Trp) c.4348A>T (p.Arg1450Trp) c.1480A>T (p.Arg494Trp) | |
18 | g.33744365G>A | CA402191102 | ASXL3 | c.4520G>A (p.Arg1507Lys) c.4517G>A (p.Arg1506Lys) c.4397G>A (p.Arg1466Lys) c.4493G>A (p.Arg1498Lys) c.4439G>A (p.Arg1480Lys) c.4400G>A (p.Arg1467Lys) c.4349G>A (p.Arg1450Lys) c.1481G>A (p.Arg494Lys) | COSMIC |
18 | g.33744365G>C | CA402191103 | ASXL3 | c.4520G>C (p.Arg1507Thr) c.4517G>C (p.Arg1506Thr) c.4397G>C (p.Arg1466Thr) c.4493G>C (p.Arg1498Thr) c.4439G>C (p.Arg1480Thr) c.4400G>C (p.Arg1467Thr) c.4349G>C (p.Arg1450Thr) c.1481G>C (p.Arg494Thr) | |
18 | g.33744365G>T | CA402191104 | ASXL3 | c.4520G>T (p.Arg1507Met) c.4517G>T (p.Arg1506Met) c.4397G>T (p.Arg1466Met) c.4493G>T (p.Arg1498Met) c.4439G>T (p.Arg1480Met) c.4400G>T (p.Arg1467Met) c.4349G>T (p.Arg1450Met) c.1481G>T (p.Arg494Met) | |
18 | g.33744366G>A | CA503770546 | ASXL3 | c.4521G>A (p.Arg1507=) c.4518G>A (p.Arg1506=) c.4398G>A (p.Arg1466=) c.4494G>A (p.Arg1498=) c.4440G>A (p.Arg1480=) c.4401G>A (p.Arg1467=) c.4350G>A (p.Arg1450=) c.1482G>A (p.Arg494=) | |
18 | g.33744366G>C | CA402191105 | ASXL3 | c.4521G>C (p.Arg1507Ser) c.4518G>C (p.Arg1506Ser) c.4398G>C (p.Arg1466Ser) c.4494G>C (p.Arg1498Ser) c.4440G>C (p.Arg1480Ser) c.4401G>C (p.Arg1467Ser) c.4350G>C (p.Arg1450Ser) c.1482G>C (p.Arg494Ser) | gnomAD v4 |
18 | g.33744366G>T | CA402191106 | ASXL3 | c.4521G>T (p.Arg1507Ser) c.4518G>T (p.Arg1506Ser) c.4398G>T (p.Arg1466Ser) c.4494G>T (p.Arg1498Ser) c.4440G>T (p.Arg1480Ser) c.4401G>T (p.Arg1467Ser) c.4350G>T (p.Arg1450Ser) c.1482G>T (p.Arg494Ser) | gnomAD v4 |
18 | g.33744367A>C | CA402191107 | ASXL3 | c.4522A>C (p.Thr1508Pro) c.4519A>C (p.Thr1507Pro) c.4399A>C (p.Thr1467Pro) c.4495A>C (p.Thr1499Pro) c.4441A>C (p.Thr1481Pro) c.4402A>C (p.Thr1468Pro) c.4351A>C (p.Thr1451Pro) c.1483A>C (p.Thr495Pro) | |
18 | g.33744367A>G | CA402191108 | ASXL3 | c.4522A>G (p.Thr1508Ala) c.4519A>G (p.Thr1507Ala) c.4399A>G (p.Thr1467Ala) c.4495A>G (p.Thr1499Ala) c.4441A>G (p.Thr1481Ala) c.4402A>G (p.Thr1468Ala) c.4351A>G (p.Thr1451Ala) c.1483A>G (p.Thr495Ala) | |
18 | g.33744367A>T | CA402191109 | ASXL3 | c.4522A>T (p.Thr1508Ser) c.4519A>T (p.Thr1507Ser) c.4399A>T (p.Thr1467Ser) c.4495A>T (p.Thr1499Ser) c.4441A>T (p.Thr1481Ser) c.4402A>T (p.Thr1468Ser) c.4351A>T (p.Thr1451Ser) c.1483A>T (p.Thr495Ser) | gnomAD v4 |
18 | g.33744368C>A | CA402191112 | ASXL3 | c.4523C>A (p.Thr1508Lys) c.4520C>A (p.Thr1507Lys) c.4400C>A (p.Thr1467Lys) c.4496C>A (p.Thr1499Lys) c.4442C>A (p.Thr1481Lys) c.4403C>A (p.Thr1468Lys) c.4352C>A (p.Thr1451Lys) c.1484C>A (p.Thr495Lys) | |
18 | g.33744368C>G | CA402191111 | ASXL3 | c.4523C>G (p.Thr1508Arg) c.4520C>G (p.Thr1507Arg) c.4400C>G (p.Thr1467Arg) c.4496C>G (p.Thr1499Arg) c.4442C>G (p.Thr1481Arg) c.4403C>G (p.Thr1468Arg) c.4352C>G (p.Thr1451Arg) c.1484C>G (p.Thr495Arg) | |
18 | g.33744368C>T | CA402191110 | ASXL3 | c.4523C>T (p.Thr1508Ile) c.4520C>T (p.Thr1507Ile) c.4400C>T (p.Thr1467Ile) c.4496C>T (p.Thr1499Ile) c.4442C>T (p.Thr1481Ile) c.4403C>T (p.Thr1468Ile) c.4352C>T (p.Thr1451Ile) c.1484C>T (p.Thr495Ile) | |
18 | g.33744369A= | CA2294858103 | ASXL3 | c.4524A= (p.Thr1508=) c.4521A= (p.Thr1507=) c.4401A= (p.Thr1467=) c.4497A= (p.Thr1499=) c.4443A= (p.Thr1481=) c.4404A= (p.Thr1468=) c.4353A= (p.Thr1451=) c.1485A= (p.Thr495=) | |
18 | g.33744369A>C | CA503770553 | ASXL3 | c.4524A>C (p.Thr1508=) c.4521A>C (p.Thr1507=) c.4401A>C (p.Thr1467=) c.4497A>C (p.Thr1499=) c.4443A>C (p.Thr1481=) c.4404A>C (p.Thr1468=) c.4353A>C (p.Thr1451=) c.1485A>C (p.Thr495=) | |
18 | g.33744369A>G | CA503770556 | ASXL3 | c.4524A>G (p.Thr1508=) c.4521A>G (p.Thr1507=) c.4401A>G (p.Thr1467=) c.4497A>G (p.Thr1499=) c.4443A>G (p.Thr1481=) c.4404A>G (p.Thr1468=) c.4353A>G (p.Thr1451=) c.1485A>G (p.Thr495=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744369A>T | CA503770555 | ASXL3 | c.4524A>T (p.Thr1508=) c.4521A>T (p.Thr1507=) c.4401A>T (p.Thr1467=) c.4497A>T (p.Thr1499=) c.4443A>T (p.Thr1481=) c.4404A>T (p.Thr1468=) c.4353A>T (p.Thr1451=) c.1485A>T (p.Thr495=) | |
18 | g.33744370G>A | CA402191113 | ASXL3 | c.4525G>A (p.Glu1509Lys) c.4522G>A (p.Glu1508Lys) c.4402G>A (p.Glu1468Lys) c.4498G>A (p.Glu1500Lys) c.4444G>A (p.Glu1482Lys) c.4405G>A (p.Glu1469Lys) c.4354G>A (p.Glu1452Lys) c.1486G>A (p.Glu496Lys) | |
18 | g.33744370G>C | CA402191114 | ASXL3 | c.4525G>C (p.Glu1509Gln) c.4522G>C (p.Glu1508Gln) c.4402G>C (p.Glu1468Gln) c.4498G>C (p.Glu1500Gln) c.4444G>C (p.Glu1482Gln) c.4405G>C (p.Glu1469Gln) c.4354G>C (p.Glu1452Gln) c.1486G>C (p.Glu496Gln) | |
18 | g.33744370G>T | CA402191115 | ASXL3 | c.4525G>T (p.Glu1509Ter) c.4522G>T (p.Glu1508Ter) c.4402G>T (p.Glu1468Ter) c.4498G>T (p.Glu1500Ter) c.4444G>T (p.Glu1482Ter) c.4405G>T (p.Glu1469Ter) c.4354G>T (p.Glu1452Ter) c.1486G>T (p.Glu496Ter) |