| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.222232168C>A | CA431575631 | PAX3 | c.702G>T (p.Leu234=) n.516G>T c.699G>T (p.Leu233=) c.846G>T (p.Leu282=) c.138G>T (p.Leu46=) n.287+10198C>A | |
| 2 | g.222232168C>G | CA431575633 | PAX3 | c.702G>C (p.Leu234=) n.516G>C c.699G>C (p.Leu233=) c.846G>C (p.Leu282=) c.138G>C (p.Leu46=) n.287+10198C>G | |
| 2 | g.222232168C>T | CA431575632 | PAX3 | c.702G>A (p.Leu234=) n.516G>A c.699G>A (p.Leu233=) c.846G>A (p.Leu282=) c.138G>A (p.Leu46=) n.287+10198C>T | |
| 2 | g.222232169A>C | CA351112480 | PAX3 | c.701T>G (p.Leu234Arg) n.515T>G c.698T>G (p.Leu233Arg) c.845T>G (p.Leu282Arg) c.137T>G (p.Leu46Arg) n.287+10199A>C | |
| 2 | g.222232169A>G | CA351112481 | PAX3 | c.701T>C (p.Leu234Pro) n.515T>C c.698T>C (p.Leu233Pro) c.845T>C (p.Leu282Pro) c.137T>C (p.Leu46Pro) n.287+10199A>G | |
| 2 | g.222232169A>T | CA351112483 | PAX3 | c.701T>A (p.Leu234Gln) n.515T>A c.698T>A (p.Leu233Gln) c.845T>A (p.Leu282Gln) c.137T>A (p.Leu46Gln) n.287+10199A>T | |
| 2 | g.222232170G>A | CA431575634 | PAX3 | c.700C>T (p.Leu234=) n.514C>T c.697C>T (p.Leu233=) c.844C>T (p.Leu282=) c.136C>T (p.Leu46=) n.287+10200G>A | gnomAD v4 COSMIC COSMIC |
| 2 | g.222232170G>C | CA351112487 | PAX3 | c.700C>G (p.Leu234Val) n.514C>G c.697C>G (p.Leu233Val) c.844C>G (p.Leu282Val) c.136C>G (p.Leu46Val) n.287+10200G>C | |
| 2 | g.222232170G>T | CA351112485 | PAX3 | c.700C>A (p.Leu234Met) n.514C>A c.697C>A (p.Leu233Met) c.844C>A (p.Leu282Met) c.136C>A (p.Leu46Met) n.287+10200G>T | gnomAD v4 |
| 2 | g.222232171T>A | CA351112488 | PAX3 | c.699A>T (p.Glu233Asp) n.513A>T c.696A>T (p.Glu232Asp) c.843A>T (p.Glu281Asp) c.135A>T (p.Glu45Asp) n.287+10201T>A | |
| 2 | g.222232171T>C | CA431575635 | PAX3 | c.699A>G (p.Glu233=) n.513A>G c.696A>G (p.Glu232=) c.843A>G (p.Glu281=) c.135A>G (p.Glu45=) n.287+10201T>C | |
| 2 | g.222232171T>G | CA351112489 | PAX3 | c.699A>C (p.Glu233Asp) n.513A>C c.696A>C (p.Glu232Asp) c.843A>C (p.Glu281Asp) c.135A>C (p.Glu45Asp) n.287+10201T>G | |
| 2 | g.222232172T>A | CA351112490 | PAX3 | c.698A>T (p.Glu233Val) n.512A>T c.695A>T (p.Glu232Val) c.842A>T (p.Glu281Val) c.134A>T (p.Glu45Val) n.287+10202T>A | |
| 2 | g.222232172T>C | CA351112492 | PAX3 | c.698A>G (p.Glu233Gly) n.512A>G c.695A>G (p.Glu232Gly) c.842A>G (p.Glu281Gly) c.134A>G (p.Glu45Gly) n.287+10202T>C | |
| 2 | g.222232172T>G | CA351112494 | PAX3 | c.698A>C (p.Glu233Ala) n.512A>C c.695A>C (p.Glu232Ala) c.842A>C (p.Glu281Ala) c.134A>C (p.Glu45Ala) n.287+10202T>G | |
| 2 | g.222232173C>A | CA351112496 | PAX3 | c.697G>T (p.Glu233Ter) n.511G>T c.694G>T (p.Glu232Ter) c.841G>T (p.Glu281Ter) c.133G>T (p.Glu45Ter) n.287+10203C>A | |
| 2 | g.222232173C>G | CA351112499 | PAX3 | c.697G>C (p.Glu233Gln) n.511G>C c.694G>C (p.Glu232Gln) c.841G>C (p.Glu281Gln) c.133G>C (p.Glu45Gln) n.287+10203C>G | |
| 2 | g.222232173C>T | CA351112501 | PAX3 | c.697G>A (p.Glu233Lys) n.511G>A c.694G>A (p.Glu232Lys) c.841G>A (p.Glu281Lys) c.133G>A (p.Glu45Lys) n.287+10203C>T | COSMIC COSMIC |
| 2 | g.222232174C>A | CA351112503 | PAX3 | c.696G>T (p.Glu232Asp) n.510G>T c.693G>T (p.Glu231Asp) c.840G>T (p.Glu280Asp) c.132G>T (p.Glu44Asp) n.287+10204C>A | |
| 2 | g.222232174C>G | CA351112505 | PAX3 | c.696G>C (p.Glu232Asp) n.510G>C c.693G>C (p.Glu231Asp) c.840G>C (p.Glu280Asp) c.132G>C (p.Glu44Asp) n.287+10204C>G | |
| 2 | g.222232174C>T | CA431575636 | PAX3 | c.696G>A (p.Glu232=) n.510G>A c.693G>A (p.Glu231=) c.840G>A (p.Glu280=) c.132G>A (p.Glu44=) n.287+10204C>T | |
| 2 | g.222232175T>A | CA351112507 | PAX3 | c.695A>T (p.Glu232Val) n.509A>T c.692A>T (p.Glu231Val) c.839A>T (p.Glu280Val) c.131A>T (p.Glu44Val) n.287+10205T>A | |
| 2 | g.222232175T>C | CA351112508 | PAX3 | c.695A>G (p.Glu232Gly) n.509A>G c.692A>G (p.Glu231Gly) c.839A>G (p.Glu280Gly) c.131A>G (p.Glu44Gly) n.287+10205T>C | |
| 2 | g.222232175T>G | CA351112510 | PAX3 | c.695A>C (p.Glu232Ala) n.509A>C c.692A>C (p.Glu231Ala) c.839A>C (p.Glu280Ala) c.131A>C (p.Glu44Ala) n.287+10205T>G | |
| 2 | g.222232176C>A | CA351112516 | PAX3 | c.694G>T (p.Glu232Ter) n.508G>T c.691G>T (p.Glu231Ter) c.838G>T (p.Glu280Ter) c.130G>T (p.Glu44Ter) n.287+10206C>A | |
| 2 | g.222232176C= | CA1330516239 | PAX3 | c.694G= (p.Glu232=) n.508G= c.691G= (p.Glu231=) c.838G= (p.Glu280=) c.130G= (p.Glu44=) n.287+10206C= | |
| 2 | g.222232176C>G | CA351112514 | PAX3 | c.694G>C (p.Glu232Gln) n.508G>C c.691G>C (p.Glu231Gln) c.838G>C (p.Glu280Gln) c.130G>C (p.Glu44Gln) n.287+10206C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.222232176C>T | CA351112512 | PAX3 | c.694G>A (p.Glu232Lys) n.508G>A c.691G>A (p.Glu231Lys) c.838G>A (p.Glu280Lys) c.130G>A (p.Glu44Lys) n.287+10206C>T | |
| 2 | g.222232177C>A | CA431575637 | PAX3 | c.693G>T (p.Leu231=) n.507G>T c.690G>T (p.Leu230=) c.837G>T (p.Leu279=) c.129G>T (p.Leu43=) n.287+10207C>A | |
| 2 | g.222232177C>G | CA431575638 | PAX3 | c.693G>C (p.Leu231=) n.507G>C c.690G>C (p.Leu230=) c.837G>C (p.Leu279=) c.129G>C (p.Leu43=) n.287+10207C>G | |
| 2 | g.222232177C>T | CA431575639 | PAX3 | c.693G>A (p.Leu231=) n.507G>A c.690G>A (p.Leu230=) c.837G>A (p.Leu279=) c.129G>A (p.Leu43=) n.287+10207C>T | gnomAD v4 |
| 2 | g.222232178A= | CA1330516240 | PAX3 | c.692T= (p.Leu231=) n.506T= c.689T= (p.Leu230=) c.836T= (p.Leu279=) c.128T= (p.Leu43=) n.287+10208A= | |
| 2 | g.222232178A>C | CA351112517 | PAX3 | c.692T>G (p.Leu231Arg) n.506T>G c.689T>G (p.Leu230Arg) c.836T>G (p.Leu279Arg) c.128T>G (p.Leu43Arg) n.287+10208A>C | |
| 2 | g.222232178A>G | CA351112519 | PAX3 | c.692T>C (p.Leu231Pro) n.506T>C c.689T>C (p.Leu230Pro) c.836T>C (p.Leu279Pro) c.128T>C (p.Leu43Pro) n.287+10208A>G | ClinVar dbSNP |
| 2 | g.222232178A>T | CA351112521 | PAX3 | c.692T>A (p.Leu231Gln) n.506T>A c.689T>A (p.Leu230Gln) c.836T>A (p.Leu279Gln) c.128T>A (p.Leu43Gln) n.287+10208A>T | |
| 2 | g.222232179G>A | CA431575640 | PAX3 | c.691C>T (p.Leu231=) n.505C>T c.688C>T (p.Leu230=) c.835C>T (p.Leu279=) c.127C>T (p.Leu43=) n.287+10209G>A | gnomAD v4 |
| 2 | g.222232179G>C | CA351112523 | PAX3 | c.691C>G (p.Leu231Val) n.505C>G c.688C>G (p.Leu230Val) c.835C>G (p.Leu279Val) c.127C>G (p.Leu43Val) n.287+10209G>C | gnomAD v4 |
| 2 | g.222232179G>T | CA351112524 | PAX3 | c.691C>A (p.Leu231Met) n.505C>A c.688C>A (p.Leu230Met) c.835C>A (p.Leu279Met) c.127C>A (p.Leu43Met) n.287+10209G>T | |
| 2 | g.222232180C>A | CA351112525 | PAX3 | c.690G>T (p.Gln230His) n.504G>T c.687G>T (p.Gln229His) c.834G>T (p.Gln278His) c.126G>T (p.Gln42His) n.287+10210C>A | |
| 2 | g.222232180C>G | CA351112527 | PAX3 | c.690G>C (p.Gln230His) n.504G>C c.687G>C (p.Gln229His) c.834G>C (p.Gln278His) c.126G>C (p.Gln42His) n.287+10210C>G | |
| 2 | g.222232180C>T | CA431575641 | PAX3 | c.690G>A (p.Gln230=) n.504G>A c.687G>A (p.Gln229=) c.834G>A (p.Gln278=) c.126G>A (p.Gln42=) n.287+10210C>T | |
| 2 | g.222232181T>A | CA351112529 | PAX3 | c.689A>T (p.Gln230Leu) n.503A>T c.686A>T (p.Gln229Leu) c.833A>T (p.Gln278Leu) c.125A>T (p.Gln42Leu) n.287+10211T>A | |
| 2 | g.222232181T>C | CA351112532 | PAX3 | c.689A>G (p.Gln230Arg) n.503A>G c.686A>G (p.Gln229Arg) c.833A>G (p.Gln278Arg) c.125A>G (p.Gln42Arg) n.287+10211T>C | |
| 2 | g.222232181T>G | CA351112534 | PAX3 | c.689A>C (p.Gln230Pro) n.503A>C c.686A>C (p.Gln229Pro) c.833A>C (p.Gln278Pro) c.125A>C (p.Gln42Pro) n.287+10211T>G | |
| 2 | g.222232182G>A | CA351112536 | PAX3 | c.688C>T (p.Gln230Ter) n.502C>T c.685C>T (p.Gln229Ter) c.832C>T (p.Gln278Ter) c.124C>T (p.Gln42Ter) n.287+10212G>A | |
| 2 | g.222232182G>C | CA351112537 | PAX3 | c.688C>G (p.Gln230Glu) n.502C>G c.685C>G (p.Gln229Glu) c.832C>G (p.Gln278Glu) c.124C>G (p.Gln42Glu) n.287+10212G>C | |
| 2 | g.222232182G>T | CA351112539 | PAX3 | c.688C>A (p.Gln230Lys) n.502C>A c.685C>A (p.Gln229Lys) c.832C>A (p.Gln278Lys) c.124C>A (p.Gln42Lys) n.287+10212G>T | ClinVar COSMIC |
| 2 | g.222232183T>A | CA351112543 | PAX3 | c.687A>T (p.Glu229Asp) n.501A>T c.684A>T (p.Glu228Asp) c.831A>T (p.Glu277Asp) c.123A>T (p.Glu41Asp) n.287+10213T>A | |
| 2 | g.222232183T>C | CA431575642 | PAX3 | c.687A>G (p.Glu229=) n.501A>G c.684A>G (p.Glu228=) c.831A>G (p.Glu277=) c.123A>G (p.Glu41=) n.287+10213T>C | |
| 2 | g.222232183T>G | CA351112541 | PAX3 | c.687A>C (p.Glu229Asp) n.501A>C c.684A>C (p.Glu228Asp) c.831A>C (p.Glu277Asp) c.123A>C (p.Glu41Asp) n.287+10213T>G |