Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.47574351_47574423delCA2820775724SYN1c.1564_1636del (p.Ala522ProfsTer?)
c.70+268_70+340del (n.70+268_70+340del)
Xg.47574361_47574444delCA2693585170SYN1c.1545_1628del (p.Gln516_Pro543del)
c.70+249_70+332del (n.70+249_70+332del)
 gnomAD v4
Xg.47574367delCA2693585195SYN1c.1620del (p.Ala542ArgfsTer?)
c.70+324del (n.70+324del)
 dbSNP gnomAD v4
Xg.47574366G>ACA412823100SYN1c.1618C>T (p.Pro540Ser)
c.70+322C>T (n.70+322C>T)
 gnomAD v4
Xg.47574366G>CCA412823103SYN1c.1618C>G (p.Pro540Ala)
c.70+322C>G (n.70+322C>G)
Xg.47574366G=CA2427971279SYN1c.1618C= (p.Pro540=)
c.70+322C= (n.70+322C=)
Xg.47574366G>TCA412823102SYN1c.1618C>A (p.Pro540Thr)
c.70+322C>A (n.70+322C>A)
 dbSNP gnomAD v4
Xg.47574367G>ACA516353971SYN1c.1617C>T (p.Gly539=)
c.70+321C>T (n.70+321C>T)
 gnomAD v4
Xg.47574367G>CCA516353969SYN1c.1617C>G (p.Gly539=)
c.70+321C>G (n.70+321C>G)
 gnomAD v4
Xg.47574367G=CA2427971280SYN1c.1617C= (p.Gly539=)
c.70+321C= (n.70+321C=)
Xg.47574367G>TCA516353970SYN1c.1617C>A (p.Gly539=)
c.70+321C>A (n.70+321C>A)
Xg.47574367_47574368dupCA2579596680SYN1c.1616_1617dup (p.Pro540AlafsTer?)
c.70+320_70+321dup (n.70+320_70+321dup)
Xg.47574368C>ACA412823105SYN1c.1616G>T (p.Gly539Val)
c.70+320G>T (n.70+320G>T)
 dbSNP gnomAD v4
Xg.47574368C=CA2427971281SYN1c.1616G= (p.Gly539=)
c.70+320G= (n.70+320G=)
Xg.47574368C>GCA412823106SYN1c.1616G>C (p.Gly539Ala)
c.70+320G>C (n.70+320G>C)
 gnomAD v4
Xg.47574368C>TCA412823108SYN1c.1616G>A (p.Gly539Asp)
c.70+320G>A (n.70+320G>A)
Xg.47574369dupCA645603182SYN1c.1616dup (p.Gly541ArgfsTer?)
c.70+320dup (n.70+320dup)
 dbSNP COSMIC COSMIC
Xg.47574369C>ACA412823110SYN1c.1615G>T (p.Gly539Cys)
c.70+319G>T (n.70+319G>T)
 gnomAD v4
Xg.47574369C=CA2427971282SYN1c.1615G= (p.Gly539=)
c.70+319G= (n.70+319G=)
Xg.47574369C>GCA412823112SYN1c.1615G>C (p.Gly539Arg)
c.70+319G>C (n.70+319G>C)
Xg.47574369C>TCA239960SYN1c.1615G>A (p.Gly539Ser)
c.70+319G>A (n.70+319G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574370T>ACA516353972SYN1c.1614A>T (p.Gly538=)
c.70+318A>T (n.70+318A>T)
 ClinVar gnomAD v4
Xg.47574370T>CCA239957SYN1c.1614A>G (p.Gly538=)
c.70+318A>G (n.70+318A>G)
 ClinVar dbSNP gnomAD v4
Xg.47574370T>GCA516353973SYN1c.1614A>C (p.Gly538=)
c.70+318A>C (n.70+318A>C)
Xg.47574370T=CA2427971283SYN1c.1614A= (p.Gly538=)
c.70+318A= (n.70+318A=)
Xg.47574371C>ACA412823113SYN1c.1613G>T (p.Gly538Val)
c.70+317G>T (n.70+317G>T)
 gnomAD v4
Xg.47574371C>GCA412823114SYN1c.1613G>C (p.Gly538Ala)
c.70+317G>C (n.70+317G>C)
Xg.47574371C>TCA412823115SYN1c.1613G>A (p.Gly538Glu)
c.70+317G>A (n.70+317G>A)
 gnomAD v4
Xg.47574372C>ACA412823116SYN1c.1612G>T (p.Gly538Ter)
c.70+316G>T (n.70+316G>T)
Xg.47574372C>GCA412823117SYN1c.1612G>C (p.Gly538Arg)
c.70+316G>C (n.70+316G>C)
Xg.47574372C>TCA412823118SYN1c.1612G>A (p.Gly538Arg)
c.70+316G>A (n.70+316G>A)
 gnomAD v4
Xg.47574373C>ACA516353974SYN1c.1611G>T (p.Ala537=)
c.70+315G>T (n.70+315G>T)
 gnomAD v4
Xg.47574373C>GCA516353975SYN1c.1611G>C (p.Ala537=)
c.70+315G>C (n.70+315G>C)
Xg.47574373C>TCA516353976SYN1c.1611G>A (p.Ala537=)
c.70+315G>A (n.70+315G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574374G>ACA412823119SYN1c.1610C>T (p.Ala537Val)
c.70+314C>T (n.70+314C>T)
 gnomAD v4
Xg.47574374G>CCA412823121SYN1c.1610C>G (p.Ala537Gly)
c.70+314C>G (n.70+314C>G)
Xg.47574374G>TCA412823120SYN1c.1610C>A (p.Ala537Glu)
c.70+314C>A (n.70+314C>A)
Xg.47574375C>ACA412823122SYN1c.1609G>T (p.Ala537Ser)
c.70+313G>T (n.70+313G>T)
 gnomAD v4
Xg.47574375C=CA2427971284SYN1c.1609G= (p.Ala537=)
c.70+313G= (n.70+313G=)
Xg.47574375C>GCA412823123SYN1c.1609G>C (p.Ala537Pro)
c.70+313G>C (n.70+313G>C)
Xg.47574375C>TCA412823124SYN1c.1609G>A (p.Ala537Thr)
c.70+313G>A (n.70+313G>A)
 ClinVar dbSNP
Xg.47574376C>ACA516353977SYN1c.1608G>T (p.Val536=)
c.70+312G>T (n.70+312G>T)
 gnomAD v4
Xg.47574376C>GCA516353978SYN1c.1608G>C (p.Val536=)
c.70+312G>C (n.70+312G>C)
Xg.47574376C>TCA516353979SYN1c.1608G>A (p.Val536=)
c.70+312G>A (n.70+312G>A)
Xg.47574377A>CCA412823125SYN1c.1607T>G (p.Val536Gly)
c.70+311T>G (n.70+311T>G)
Xg.47574377A>GCA412823126SYN1c.1607T>C (p.Val536Ala)
c.70+311T>C (n.70+311T>C)
Xg.47574377A>TCA412823127SYN1c.1607T>A (p.Val536Glu)
c.70+311T>A (n.70+311T>A)
Xg.47574378C>ACA412823128SYN1c.1606G>T (p.Val536Leu)
c.70+310G>T (n.70+310G>T)
Xg.47574378C>GCA412823129SYN1c.1606G>C (p.Val536Leu)
c.70+310G>C (n.70+310G>C)
Xg.47574378C>TCA412823130SYN1c.1606G>A (p.Val536Met)
c.70+310G>A (n.70+310G>A)
Xg.47574379T>ACA516353980SYN1c.1605A>T (p.Pro535=)
c.70+309A>T (n.70+309A>T)
Xg.47574379T>CCA329057320SYN1c.1605A>G (p.Pro535=)
c.70+309A>G (n.70+309A>G)
 dbSNP
Xg.47574379T>GCA516353981SYN1c.1605A>C (p.Pro535=)
c.70+309A>C (n.70+309A>C)
Xg.47574379T=CA2427971285SYN1c.1605A= (p.Pro535=)
c.70+309A= (n.70+309A=)
Xg.47574380G>ACA412823131SYN1c.1604C>T (p.Pro535Leu)
c.70+308C>T (n.70+308C>T)
 gnomAD v4
Xg.47574380G>CCA412823133SYN1c.1604C>G (p.Pro535Arg)
c.70+308C>G (n.70+308C>G)
Xg.47574380G>TCA412823132SYN1c.1604C>A (p.Pro535Gln)
c.70+308C>A (n.70+308C>A)
 gnomAD v4
Xg.47574381G>ACA412823134SYN1c.1603C>T (p.Pro535Ser)
c.70+307C>T (n.70+307C>T)
 gnomAD v4
Xg.47574381G>CCA412823136SYN1c.1603C>G (p.Pro535Ala)
c.70+307C>G (n.70+307C>G)
Xg.47574381G>TCA412823135SYN1c.1603C>A (p.Pro535Thr)
c.70+307C>A (n.70+307C>A)
Xg.47574382C>ACA516353982SYN1c.1602G>T (p.Arg534=)
c.70+306G>T (n.70+306G>T)
 dbSNP gnomAD v4
Xg.47574382C>GCA516353983SYN1c.1602G>C (p.Arg534=)
c.70+306G>C (n.70+306G>C)
Xg.47574382C>TCA516353984SYN1c.1602G>A (p.Arg534=)
c.70+306G>A (n.70+306G>A)
Xg.47574383C>ACA412823137SYN1c.1601G>T (p.Arg534Leu)
c.70+305G>T (n.70+305G>T)
Xg.47574383C>GCA412823139SYN1c.1601G>C (p.Arg534Pro)
c.70+305G>C (n.70+305G>C)
Xg.47574383C>TCA412823138SYN1c.1601G>A (p.Arg534Gln)
c.70+305G>A (n.70+305G>A)
 gnomAD v4
Xg.47574384G>ACA412823141SYN1c.1600C>T (p.Arg534Trp)
c.70+304C>T (n.70+304C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574384G>CCA412823142SYN1c.1600C>G (p.Arg534Gly)
c.70+304C>G (n.70+304C>G)
 gnomAD v4
Xg.47574384G=CA2427971286SYN1c.1600C= (p.Arg534=)
c.70+304C= (n.70+304C=)
Xg.47574384G>TCA516353985SYN1c.1600C>A (p.Arg534=)
c.70+304C>A (n.70+304C>A)
 gnomAD v4
Xg.47574385G>ACA516353986SYN1c.1599C>T (p.Ser533=)
c.70+303C>T (n.70+303C>T)
 gnomAD v4
Xg.47574385G>CCA516353987SYN1c.1599C>G (p.Ser533=)
c.70+303C>G (n.70+303C>G)
Xg.47574385G>TCA516353988SYN1c.1599C>A (p.Ser533=)
c.70+303C>A (n.70+303C>A)
 gnomAD v4
Xg.47574386G>ACA412823145SYN1c.1598C>T (p.Ser533Phe)
c.70+302C>T (n.70+302C>T)
Xg.47574386G>CCA412823147SYN1c.1598C>G (p.Ser533Cys)
c.70+302C>G (n.70+302C>G)
Xg.47574386G=CA2427971287SYN1c.1598C= (p.Ser533=)
c.70+302C= (n.70+302C=)
Xg.47574386G>TCA412823148SYN1c.1598C>A (p.Ser533Tyr)
c.70+302C>A (n.70+302C>A)
 dbSNP
Xg.47574387A>CCA412823150SYN1c.1597T>G (p.Ser533Ala)
c.70+301T>G (n.70+301T>G)
Xg.47574387A>GCA412823152SYN1c.1597T>C (p.Ser533Pro)
c.70+301T>C (n.70+301T>C)
Xg.47574387A>TCA412823153SYN1c.1597T>A (p.Ser533Thr)
c.70+301T>A (n.70+301T>A)
 gnomAD v4
Xg.47574388T>ACA412823154SYN1c.1596A>T (p.Gln532His)
c.70+300A>T (n.70+300A>T)
Xg.47574388T>CCA516353989SYN1c.1596A>G (p.Gln532=)
c.70+300A>G (n.70+300A>G)
 gnomAD v4
Xg.47574388T>GCA412823156SYN1c.1596A>C (p.Gln532His)
c.70+300A>C (n.70+300A>C)
Xg.47574389T>ACA412823158SYN1c.1595A>T (p.Gln532Leu)
c.70+299A>T (n.70+299A>T)
Xg.47574389T>CCA412823160SYN1c.1595A>G (p.Gln532Arg)
c.70+299A>G (n.70+299A>G)
Xg.47574389T>GCA412823161SYN1c.1595A>C (p.Gln532Pro)
c.70+299A>C (n.70+299A>C)
Xg.47574390G>ACA412823162SYN1c.1594C>T (p.Gln532Ter)
c.70+298C>T (n.70+298C>T)
 ClinVar
Xg.47574390G>CCA412823166SYN1c.1594C>G (p.Gln532Glu)
c.70+298C>G (n.70+298C>G)
Xg.47574390G>TCA412823164SYN1c.1594C>A (p.Gln532Lys)
c.70+298C>A (n.70+298C>A)
 gnomAD v4
Xg.47574391G>ACA516353990SYN1c.1593C>T (p.Arg531=)
c.70+297C>T (n.70+297C>T)
 gnomAD v4
Xg.47574391G>CCA516353991SYN1c.1593C>G (p.Arg531=)
c.70+297C>G (n.70+297C>G)
Xg.47574391G>TCA516353992SYN1c.1593C>A (p.Arg531=)
c.70+297C>A (n.70+297C>A)
 gnomAD v4
Xg.47574392C>ACA412823168SYN1c.1592G>T (p.Arg531Leu)
c.70+296G>T (n.70+296G>T)
 gnomAD v4
Xg.47574392C>GCA412823169SYN1c.1592G>C (p.Arg531Pro)
c.70+296G>C (n.70+296G>C)
Xg.47574392C>TCA412823170SYN1c.1592G>A (p.Arg531His)
c.70+296G>A (n.70+296G>A)
 ClinVar dbSNP gnomAD v4
Xg.47574393G>ACA412823172SYN1c.1591C>T (p.Arg531Cys)
c.70+295C>T (n.70+295C>T)
Xg.47574393G>CCA412823174SYN1c.1591C>G (p.Arg531Gly)
c.70+295C>G (n.70+295C>G)
Xg.47574393G>TCA412823176SYN1c.1591C>A (p.Arg531Ser)
c.70+295C>A (n.70+295C>A)
 gnomAD v4
Xg.47574394G>ACA516353993SYN1c.1590C>T (p.Gly530=)
c.70+294C>T (n.70+294C>T)
 gnomAD v4
Xg.47574394G>CCA516353995SYN1c.1590C>G (p.Gly530=)
c.70+294C>G (n.70+294C>G)
Xg.47574394G>TCA516353994SYN1c.1590C>A (p.Gly530=)
c.70+294C>A (n.70+294C>A)
Xg.47574395C>ACA412823178SYN1c.1589G>T (p.Gly530Val)
c.70+293G>T (n.70+293G>T)
 gnomAD v4
Xg.47574395C=CA2427971288SYN1c.1589G= (p.Gly530=)
c.70+293G= (n.70+293G=)
Xg.47574395C>GCA412823180SYN1c.1589G>C (p.Gly530Ala)
c.70+293G>C (n.70+293G>C)
Xg.47574395C>TCA412823181SYN1c.1589G>A (p.Gly530Asp)
c.70+293G>A (n.70+293G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574396C>ACA412823187SYN1c.1588G>T (p.Gly530Cys)
c.70+292G>T (n.70+292G>T)
 gnomAD v4
Xg.47574396C>GCA412823185SYN1c.1588G>C (p.Gly530Arg)
c.70+292G>C (n.70+292G>C)
Xg.47574396C>TCA412823183SYN1c.1588G>A (p.Gly530Ser)
c.70+292G>A (n.70+292G>A)
 gnomAD v4
Xg.47574397T>ACA412823188SYN1c.1587A>T (p.Gln529His)
c.70+291A>T (n.70+291A>T)
 gnomAD v4
Xg.47574397T>CCA516353996SYN1c.1587A>G (p.Gln529=)
c.70+291A>G (n.70+291A>G)
Xg.47574397T>GCA412823189SYN1c.1587A>C (p.Gln529His)
c.70+291A>C (n.70+291A>C)
Xg.47574398T>ACA412823191SYN1c.1586A>T (p.Gln529Leu)
c.70+290A>T (n.70+290A>T)
Xg.47574398T>CCA412823193SYN1c.1586A>G (p.Gln529Arg)
c.70+290A>G (n.70+290A>G)
Xg.47574398T>GCA412823195SYN1c.1586A>C (p.Gln529Pro)
c.70+290A>C (n.70+290A>C)
Xg.47574399G>ACA412823197SYN1c.1585C>T (p.Gln529Ter)
c.70+289C>T (n.70+289C>T)
Xg.47574399G>CCA412823199SYN1c.1585C>G (p.Gln529Glu)
c.70+289C>G (n.70+289C>G)
Xg.47574399G>TCA412823200SYN1c.1585C>A (p.Gln529Lys)
c.70+289C>A (n.70+289C>A)
 gnomAD v4
Xg.47574400A>CCA516353997SYN1c.1584T>G (p.Gly528=)
c.70+288T>G (n.70+288T>G)
Xg.47574400A>GCA516353998SYN1c.1584T>C (p.Gly528=)
c.70+288T>C (n.70+288T>C)
 gnomAD v4
Xg.47574400A>TCA516353999SYN1c.1584T>A (p.Gly528=)
c.70+288T>A (n.70+288T>A)
Xg.47574401C>ACA412823202SYN1c.1583G>T (p.Gly528Val)
c.70+287G>T (n.70+287G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574401C=CA2427971289SYN1c.1583G= (p.Gly528=)
c.70+287G= (n.70+287G=)
Xg.47574401C>GCA412823204SYN1c.1583G>C (p.Gly528Ala)
c.70+287G>C (n.70+287G>C)
Xg.47574401C>TCA412823206SYN1c.1583G>A (p.Gly528Asp)
c.70+287G>A (n.70+287G>A)
Xg.47574402C>ACA412823210SYN1c.1582G>T (p.Gly528Cys)
c.70+286G>T (n.70+286G>T)
Xg.47574402C>GCA412823208SYN1c.1582G>C (p.Gly528Arg)
c.70+286G>C (n.70+286G>C)
Xg.47574402C>TCA412823207SYN1c.1582G>A (p.Gly528Ser)
c.70+286G>A (n.70+286G>A)
Xg.47574403C>ACA412823211SYN1c.1581G>T (p.Gln527His)
c.70+285G>T (n.70+285G>T)
 gnomAD v4
Xg.47574403C=CA2427971290SYN1c.1581G= (p.Gln527=)
c.70+285G= (n.70+285G=)
Xg.47574403C>GCA412823213SYN1c.1581G>C (p.Gln527His)
c.70+285G>C (n.70+285G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574403C>TCA516354000SYN1c.1581G>A (p.Gln527=)
c.70+285G>A (n.70+285G>A)
Xg.47574404T>ACA412823214SYN1c.1580A>T (p.Gln527Leu)
c.70+284A>T (n.70+284A>T)
Xg.47574404T>CCA412823216SYN1c.1580A>G (p.Gln527Arg)
c.70+284A>G (n.70+284A>G)
 gnomAD v4
Xg.47574404T>GCA412823217SYN1c.1580A>C (p.Gln527Pro)
c.70+284A>C (n.70+284A>C)
Xg.47574405G>ACA412823219SYN1c.1579C>T (p.Gln527Ter)
c.70+283C>T (n.70+283C>T)
Xg.47574405G>CCA412823221SYN1c.1579C>G (p.Gln527Glu)
c.70+283C>G (n.70+283C>G)
Xg.47574405G>TCA412823222SYN1c.1579C>A (p.Gln527Lys)
c.70+283C>A (n.70+283C>A)
Xg.47574407delCA2501666735SYN1c.1579del (p.Gln527ArgfsTer?)
c.70+283del (n.70+283del)
Xg.47574406G>ACA516354001SYN1c.1578C>T (p.Thr526=)
c.70+282C>T (n.70+282C>T)
Xg.47574406G>CCA329057324SYN1c.1578C>G (p.Thr526=)
c.70+282C>G (n.70+282C>G)
 ClinVar dbSNP gnomAD v2
Xg.47574406G=CA2427971291SYN1c.1578C= (p.Thr526=)
c.70+282C= (n.70+282C=)
Xg.47574406G>TCA516354002SYN1c.1578C>A (p.Thr526=)
c.70+282C>A (n.70+282C>A)
 gnomAD v4
Xg.47574407G>ACA412823225SYN1c.1577C>T (p.Thr526Ile)
c.70+281C>T (n.70+281C>T)
 ClinVar dbSNP
Xg.47574407G>CCA412823226SYN1c.1577C>G (p.Thr526Ser)
c.70+281C>G (n.70+281C>G)
 gnomAD v4
Xg.47574407G>TCA412823227SYN1c.1577C>A (p.Thr526Asn)
c.70+281C>A (n.70+281C>A)
 gnomAD v4
Xg.47574408T>ACA412823232SYN1c.1576A>T (p.Thr526Ser)
c.70+280A>T (n.70+280A>T)
 gnomAD v4
Xg.47574408T>CCA412823230SYN1c.1576A>G (p.Thr526Ala)
c.70+280A>G (n.70+280A>G)
Xg.47574408T>GCA412823229SYN1c.1576A>C (p.Thr526Pro)
c.70+280A>C (n.70+280A>C)
Xg.47574409C>ACA516354003SYN1c.1575G>T (p.Pro525=)
c.70+279G>T (n.70+279G>T)
 gnomAD v4
Xg.47574409C=CA2427971292SYN1c.1575G= (p.Pro525=)
c.70+279G= (n.70+279G=)
Xg.47574409C>GCA516354004SYN1c.1575G>C (p.Pro525=)
c.70+279G>C (n.70+279G>C)
 gnomAD v4
Xg.47574409C>TCA10398348SYN1c.1575G>A (p.Pro525=)
c.70+279G>A (n.70+279G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574410G>ACA412823245SYN1c.1574C>T (p.Pro525Leu)
c.70+278C>T (n.70+278C>T)
 gnomAD v4
Xg.47574410G>CCA412823235SYN1c.1574C>G (p.Pro525Arg)
c.70+278C>G (n.70+278C>G)
 gnomAD v4
Xg.47574410G>TCA412823243SYN1c.1574C>A (p.Pro525Gln)
c.70+278C>A (n.70+278C>A)
Xg.47574411G>ACA412823249SYN1c.1573C>T (p.Pro525Ser)
c.70+277C>T (n.70+277C>T)
 gnomAD v4
Xg.47574411G>CCA412823251SYN1c.1573C>G (p.Pro525Ala)
c.70+277C>G (n.70+277C>G)
Xg.47574411G>TCA412823253SYN1c.1573C>A (p.Pro525Thr)
c.70+277C>A (n.70+277C>A)
 gnomAD v4
Xg.47574412C>ACA516354005SYN1c.1572G>T (p.Pro524=)
c.70+276G>T (n.70+276G>T)
Xg.47574412C>GCA516354006SYN1c.1572G>C (p.Pro524=)
c.70+276G>C (n.70+276G>C)
Xg.47574412C>TCA516354007SYN1c.1572G>A (p.Pro524=)
c.70+276G>A (n.70+276G>A)
 gnomAD v4
Xg.47574413G>ACA412823257SYN1c.1571C>T (p.Pro524Leu)
c.70+275C>T (n.70+275C>T)
 ClinVar dbSNP gnomAD v4
Xg.47574413G>CCA412823269SYN1c.1571C>G (p.Pro524Arg)
c.70+275C>G (n.70+275C>G)
Xg.47574413G=CA2427971293SYN1c.1571C= (p.Pro524=)
c.70+275C= (n.70+275C=)
Xg.47574413G>TCA412823270SYN1c.1571C>A (p.Pro524Gln)
c.70+275C>A (n.70+275C>A)
 gnomAD v4
Xg.47574414G>ACA412823273SYN1c.1570C>T (p.Pro524Ser)
c.70+274C>T (n.70+274C>T)
 gnomAD v4
Xg.47574414G>CCA412823275SYN1c.1570C>G (p.Pro524Ala)
c.70+274C>G (n.70+274C>G)
Xg.47574414G>TCA412823277SYN1c.1570C>A (p.Pro524Thr)
c.70+274C>A (n.70+274C>A)
Xg.47574415C>ACA516354008SYN1c.1569G>T (p.Ala523=)
c.70+273G>T (n.70+273G>T)
 gnomAD v4
Xg.47574415C=CA2427971294SYN1c.1569G= (p.Ala523=)
c.70+273G= (n.70+273G=)
Xg.47574415C>GCA516354009SYN1c.1569G>C (p.Ala523=)
c.70+273G>C (n.70+273G>C)
 gnomAD v4
Xg.47574415C>TCA293844SYN1c.1569G>A (p.Ala523=)
c.70+273G>A (n.70+273G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574416G>ACA412823287SYN1c.1568C>T (p.Ala523Val)
c.70+272C>T (n.70+272C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.47574416G>CCA412823283SYN1c.1568C>G (p.Ala523Gly)
c.70+272C>G (n.70+272C>G)
Xg.47574416G=CA2427971295SYN1c.1568C= (p.Ala523=)
c.70+272C= (n.70+272C=)
Xg.47574416G>TCA412823285SYN1c.1568C>A (p.Ala523Glu)
c.70+272C>A (n.70+272C>A)
Xg.47574417C>ACA412823289SYN1c.1567G>T (p.Ala523Ser)
c.70+271G>T (n.70+271G>T)
 gnomAD v4
Xg.47574417C>GCA412823292SYN1c.1567G>C (p.Ala523Pro)
c.70+271G>C (n.70+271G>C)
Xg.47574417C>TCA412823294SYN1c.1567G>A (p.Ala523Thr)
c.70+271G>A (n.70+271G>A)
 gnomAD v4
Xg.47574418G>ACA516354010SYN1c.1566C>T (p.Ala522=)
c.70+270C>T (n.70+270C>T)
 gnomAD v4
Xg.47574418G>CCA516354011SYN1c.1566C>G (p.Ala522=)
c.70+270C>G (n.70+270C>G)
Xg.47574418G>TCA516354012SYN1c.1566C>A (p.Ala522=)
c.70+270C>A (n.70+270C>A)
Xg.47574419delCA2820775725SYN1c.1566del (p.Ala523ArgfsTer?)
c.70+270del (n.70+270del)
Xg.47574419G>ACA412823297SYN1c.1565C>T (p.Ala522Val)
c.70+269C>T (n.70+269C>T)
 gnomAD v4
Xg.47574419G>CCA412823299SYN1c.1565C>G (p.Ala522Gly)
c.70+269C>G (n.70+269C>G)
Xg.47574419G>TCA412823302SYN1c.1565C>A (p.Ala522Asp)
c.70+269C>A (n.70+269C>A)
Xg.47574420C>ACA412823309SYN1c.1564G>T (p.Ala522Ser)
c.70+268G>T (n.70+268G>T)
 gnomAD v4
Xg.47574420C>GCA412823312SYN1c.1564G>C (p.Ala522Pro)
c.70+268G>C (n.70+268G>C)
Xg.47574420C>TCA412823315SYN1c.1564G>A (p.Ala522Thr)
c.70+268G>A (n.70+268G>A)
 gnomAD v4
Xg.47574421C>ACA412823322SYN1c.1563G>T (p.Gln521His)
c.70+267G>T (n.70+267G>T)
Xg.47574421C>GCA412823323SYN1c.1563G>C (p.Gln521His)
c.70+267G>C (n.70+267G>C)
Xg.47574421C>TCA516354013SYN1c.1563G>A (p.Gln521=)
c.70+267G>A (n.70+267G>A)
Xg.47574422T>ACA412823327SYN1c.1562A>T (p.Gln521Leu)
c.70+266A>T (n.70+266A>T)
Xg.47574422T>CCA412823331SYN1c.1562A>G (p.Gln521Arg)
c.70+266A>G (n.70+266A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.47574422T>GCA412823326SYN1c.1562A>C (p.Gln521Pro)
c.70+266A>C (n.70+266A>C)
 gnomAD v4
Xg.47574422T=CA2427971296SYN1c.1562A= (p.Gln521=)
c.70+266A= (n.70+266A=)
Xg.47574423G>ACA412823333SYN1c.1561C>T (p.Gln521Ter)
c.70+265C>T (n.70+265C>T)
 gnomAD v4
Xg.47574423G>CCA412823335SYN1c.1561C>G (p.Gln521Glu)
c.70+265C>G (n.70+265C>G)
Xg.47574423G>TCA412823338SYN1c.1561C>A (p.Gln521Lys)
c.70+265C>A (n.70+265C>A)
Xg.47574424G>ACA516354014SYN1c.1560C>T (p.Ser520=)
c.70+264C>T (n.70+264C>T)
Xg.47574424G>CCA516354015SYN1c.1560C>G (p.Ser520=)
c.70+264C>G (n.70+264C>G)
Xg.47574424G>TCA516354016SYN1c.1560C>A (p.Ser520=)
c.70+264C>A (n.70+264C>A)
 gnomAD v4
Xg.47574425G>ACA10398349SYN1c.1559C>T (p.Ser520Phe)
c.70+263C>T (n.70+263C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.47574425G>CCA412823343SYN1c.1559C>G (p.Ser520Cys)
c.70+263C>G (n.70+263C>G)
Xg.47574425G=CA2427971297SYN1c.1559C= (p.Ser520=)
c.70+263C= (n.70+263C=)
Xg.47574425G>TCA412823345SYN1c.1559C>A (p.Ser520Tyr)
c.70+263C>A (n.70+263C>A)
 gnomAD v4
Xg.47574426A>CCA412823350SYN1c.1558T>G (p.Ser520Ala)
c.70+262T>G (n.70+262T>G)
Xg.47574426A>GCA412823353SYN1c.1558T>C (p.Ser520Pro)
c.70+262T>C (n.70+262T>C)
 gnomAD v4
Xg.47574426A>TCA412823355SYN1c.1558T>A (p.Ser520Thr)
c.70+262T>A (n.70+262T>A)
Xg.47574427C>ACA516354017SYN1c.1557G>T (p.Ala519=)
c.70+261G>T (n.70+261G>T)
 ClinVar dbSNP gnomAD v4
Xg.47574427C=CA2427971298SYN1c.1557G= (p.Ala519=)
c.70+261G= (n.70+261G=)
Xg.47574427C>GCA516354018SYN1c.1557G>C (p.Ala519=)
c.70+261G>C (n.70+261G>C)
Xg.47574427C>TCA329057336SYN1c.1557G>A (p.Ala519=)
c.70+261G>A (n.70+261G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574428G>ACA412823358SYN1c.1556C>T (p.Ala519Val)
c.70+260C>T (n.70+260C>T)
 ClinVar gnomAD v4
Xg.47574428G>CCA412823361SYN1c.1556C>G (p.Ala519Gly)
c.70+260C>G (n.70+260C>G)
Xg.47574428G>TCA412823363SYN1c.1556C>A (p.Ala519Glu)
c.70+260C>A (n.70+260C>A)
 gnomAD v4
Xg.47574429C>ACA412823370SYN1c.1555G>T (p.Ala519Ser)
c.70+259G>T (n.70+259G>T)
Xg.47574429C>GCA412823373SYN1c.1555G>C (p.Ala519Pro)
c.70+259G>C (n.70+259G>C)
Xg.47574429C>TCA412823366SYN1c.1555G>A (p.Ala519Thr)
c.70+259G>A (n.70+259G>A)
 gnomAD v4
Xg.47574430G>ACA516354019SYN1c.1554C>T (p.Pro518=)
c.70+258C>T (n.70+258C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574430G>CCA516354020SYN1c.1554C>G (p.Pro518=)
c.70+258C>G (n.70+258C>G)
Xg.47574430G=CA2427971299SYN1c.1554C= (p.Pro518=)
c.70+258C= (n.70+258C=)
Xg.47574430G>TCA516354021SYN1c.1554C>A (p.Pro518=)
c.70+258C>A (n.70+258C>A)
 gnomAD v4
Xg.47574431G>ACA412823375SYN1c.1553C>T (p.Pro518Leu)
c.70+257C>T (n.70+257C>T)
Xg.47574431G>CCA412823378SYN1c.1553C>G (p.Pro518Arg)
c.70+257C>G (n.70+257C>G)
Xg.47574431G>TCA412823380SYN1c.1553C>A (p.Pro518His)
c.70+257C>A (n.70+257C>A)
 gnomAD v4
Xg.47574432G>ACA412823382SYN1c.1552C>T (p.Pro518Ser)
c.70+256C>T (n.70+256C>T)
Xg.47574432G>CCA412823384SYN1c.1552C>G (p.Pro518Ala)
c.70+256C>G (n.70+256C>G)
 gnomAD v4
Xg.47574432G>TCA412823386SYN1c.1552C>A (p.Pro518Thr)
c.70+256C>A (n.70+256C>A)
Xg.47574433C>ACA412823387SYN1c.1551G>T (p.Gln517His)
c.70+255G>T (n.70+255G>T)
Xg.47574433C>GCA412823388SYN1c.1551G>C (p.Gln517His)
c.70+255G>C (n.70+255G>C)
Xg.47574433C>TCA516354022SYN1c.1551G>A (p.Gln517=)
c.70+255G>A (n.70+255G>A)
Xg.47574434T>ACA412823390SYN1c.1550A>T (p.Gln517Leu)
c.70+254A>T (n.70+254A>T)
Xg.47574434T>CCA412823395SYN1c.1550A>G (p.Gln517Arg)
c.70+254A>G (n.70+254A>G)
Xg.47574434T>GCA412823397SYN1c.1550A>C (p.Gln517Pro)
c.70+254A>C (n.70+254A>C)
Xg.47574435G>ACA412823398SYN1c.1549C>T (p.Gln517Ter)
c.70+253C>T (n.70+253C>T)
 gnomAD v4
Xg.47574435G>CCA412823400SYN1c.1549C>G (p.Gln517Glu)
c.70+253C>G (n.70+253C>G)
Xg.47574435G>TCA412823401SYN1c.1549C>A (p.Gln517Lys)
c.70+253C>A (n.70+253C>A)
 gnomAD v4
Xg.47574443_47574472delCA2820775726SYN1c.1520_1549del (p.Arg507_Gln516del)
c.70+224_70+253del (n.70+224_70+253del)
Xg.47574436C>ACA412823403SYN1c.1548G>T (p.Gln516His)
c.70+252G>T (n.70+252G>T)
 gnomAD v4
Xg.47574436C>GCA412823402SYN1c.1548G>C (p.Gln516His)
c.70+252G>C (n.70+252G>C)
 gnomAD v4
Xg.47574436C>TCA516354023SYN1c.1548G>A (p.Gln516=)
c.70+252G>A (n.70+252G>A)
 gnomAD v4
Xg.47574437T>ACA412823405SYN1c.1547A>T (p.Gln516Leu)
c.70+251A>T (n.70+251A>T)
Xg.47574437T>CCA412823408SYN1c.1547A>G (p.Gln516Arg)
c.70+251A>G (n.70+251A>G)
 gnomAD v4
Xg.47574437T>GCA412823407SYN1c.1547A>C (p.Gln516Pro)
c.70+251A>C (n.70+251A>C)
Xg.47574438G>ACA412823409SYN1c.1546C>T (p.Gln516Ter)
c.70+250C>T (n.70+250C>T)
Xg.47574438G>CCA412823412SYN1c.1546C>G (p.Gln516Glu)
c.70+250C>G (n.70+250C>G)
Xg.47574438G>TCA412823410SYN1c.1546C>A (p.Gln516Lys)
c.70+250C>A (n.70+250C>A)
 gnomAD v4
Xg.47574441delCA2693585221SYN1c.1546del (p.Gln516SerfsTer?)
c.70+250del (n.70+250del)
 gnomAD v4
Xg.47574439G>ACA516354024SYN1c.1545C>T (p.Pro515=)
c.70+249C>T (n.70+249C>T)
 gnomAD v4
Xg.47574439G>CCA516354025SYN1c.1545C>G (p.Pro515=)
c.70+249C>G (n.70+249C>G)
Xg.47574439G>TCA516354026SYN1c.1545C>A (p.Pro515=)
c.70+249C>A (n.70+249C>A)
Xg.47574440G>ACA412823413SYN1c.1544C>T (p.Pro515Leu)
c.70+248C>T (n.70+248C>T)
Xg.47574440G>CCA412823415SYN1c.1544C>G (p.Pro515Arg)
c.70+248C>G (n.70+248C>G)
Xg.47574440G>TCA412823414SYN1c.1544C>A (p.Pro515His)
c.70+248C>A (n.70+248C>A)
Xg.47574441G>ACA412823417SYN1c.1543C>T (p.Pro515Ser)
c.70+247C>T (n.70+247C>T)
 gnomAD v4
Xg.47574441G>CCA318961SYN1c.1543C>G (p.Pro515Ala)
c.70+247C>G (n.70+247C>G)
 ClinVar dbSNP
Xg.47574441G=CA2427971300SYN1c.1543C= (p.Pro515=)
c.70+247C= (n.70+247C=)
Xg.47574441G>TCA412823420SYN1c.1543C>A (p.Pro515Thr)
c.70+247C>A (n.70+247C>A)
Xg.47574442C>ACA516354029SYN1c.1542G>T (p.Ala514=)
c.70+246G>T (n.70+246G>T)
 gnomAD v4
Xg.47574442C=CA2427971301SYN1c.1542G= (p.Ala514=)
c.70+246G= (n.70+246G=)
Xg.47574442C>GCA516354028SYN1c.1542G>C (p.Ala514=)
c.70+246G>C (n.70+246G>C)
Xg.47574442C>TCA516354027SYN1c.1542G>A (p.Ala514=)
c.70+246G>A (n.70+246G>A)
 dbSNP gnomAD v4
Xg.47574443G>ACA412823421SYN1c.1541C>T (p.Ala514Val)
c.70+245C>T (n.70+245C>T)
 dbSNP gnomAD v4
Xg.47574443G>CCA412823422SYN1c.1541C>G (p.Ala514Gly)
c.70+245C>G (n.70+245C>G)
Xg.47574443G=CA2427971302SYN1c.1541C= (p.Ala514=)
c.70+245C= (n.70+245C=)
Xg.47574443G>TCA412823423SYN1c.1541C>A (p.Ala514Glu)
c.70+245C>A (n.70+245C>A)
 gnomAD v4
Xg.47574444C>ACA412823428SYN1c.1540G>T (p.Ala514Ser)
c.70+244G>T (n.70+244G>T)
Xg.47574444C>GCA412823426SYN1c.1540G>C (p.Ala514Pro)
c.70+244G>C (n.70+244G>C)
Xg.47574444C>TCA412823425SYN1c.1540G>A (p.Ala514Thr)
c.70+244G>A (n.70+244G>A)
 gnomAD v4
Xg.47574445T>ACA516354030SYN1c.1539A>T (p.Ser513=)
c.70+243A>T (n.70+243A>T)
Xg.47574445T>CCA516354031SYN1c.1539A>G (p.Ser513=)
c.70+243A>G (n.70+243A>G)
 gnomAD v4
Xg.47574445T>GCA516354032SYN1c.1539A>C (p.Ser513=)
c.70+243A>C (n.70+243A>C)
Xg.47574446G>ACA412823430SYN1c.1538C>T (p.Ser513Leu)
c.70+242C>T (n.70+242C>T)
 ClinVar gnomAD v4
Xg.47574446G>CCA412823432SYN1c.1538C>G (p.Ser513Ter)
c.70+242C>G (n.70+242C>G)
Xg.47574446G>TCA412823433SYN1c.1538C>A (p.Ser513Ter)
c.70+242C>A (n.70+242C>A)
Xg.47574447A>CCA412823435SYN1c.1537T>G (p.Ser513Ala)
c.70+241T>G (n.70+241T>G)
Xg.47574447A>GCA412823438SYN1c.1537T>C (p.Ser513Pro)
c.70+241T>C (n.70+241T>C)
Xg.47574447A>TCA412823439SYN1c.1537T>A (p.Ser513Thr)
c.70+241T>A (n.70+241T>A)
 gnomAD v4
Xg.47574448G>ACA516354036SYN1c.1536C>T (p.Thr512=)
c.70+240C>T (n.70+240C>T)
Xg.47574448G>CCA516354037SYN1c.1536C>G (p.Thr512=)
c.70+240C>G (n.70+240C>G)
Xg.47574448G>TCA516354038SYN1c.1536C>A (p.Thr512=)
c.70+240C>A (n.70+240C>A)
 gnomAD v4
Xg.47574449G>ACA412823441SYN1c.1535C>T (p.Thr512Ile)
c.70+239C>T (n.70+239C>T)
 gnomAD v4
Xg.47574449G>CCA412823444SYN1c.1535C>G (p.Thr512Ser)
c.70+239C>G (n.70+239C>G)
Xg.47574449G>TCA412823442SYN1c.1535C>A (p.Thr512Asn)
c.70+239C>A (n.70+239C>A)
 gnomAD v4
Xg.47574450T>ACA412823447SYN1c.1534A>T (p.Thr512Ser)
c.70+238A>T (n.70+238A>T)
Xg.47574450T>CCA412823448SYN1c.1534A>G (p.Thr512Ala)
c.70+238A>G (n.70+238A>G)
 gnomAD v4
Xg.47574450T>GCA412823451SYN1c.1534A>C (p.Thr512Pro)
c.70+238A>C (n.70+238A>C)
Xg.47574451G>ACA516354041SYN1c.1533C>T (p.Pro511=)
c.70+237C>T (n.70+237C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.47574451G>CCA516354042SYN1c.1533C>G (p.Pro511=)
c.70+237C>G (n.70+237C>G)
Xg.47574451G=CA2427971303SYN1c.1533C= (p.Pro511=)
c.70+237C= (n.70+237C=)
Xg.47574451G>TCA516354043SYN1c.1533C>A (p.Pro511=)
c.70+237C>A (n.70+237C>A)
 gnomAD v4
Xg.47574453delCA2693585222SYN1c.1533del (p.Thr512ProfsTer?)
c.70+237del (n.70+237del)
 gnomAD v4
Xg.47574452G>ACA412823456SYN1c.1532C>T (p.Pro511Leu)
c.70+236C>T (n.70+236C>T)
 gnomAD v4
Xg.47574452G>CCA412823458SYN1c.1532C>G (p.Pro511Arg)
c.70+236C>G (n.70+236C>G)
Xg.47574452G>TCA412823461SYN1c.1532C>A (p.Pro511His)
c.70+236C>A (n.70+236C>A)
 gnomAD v4
Xg.47574453G>ACA329057340SYN1c.1531C>T (p.Pro511Ser)
c.70+235C>T (n.70+235C>T)
 dbSNP gnomAD v4
Xg.47574453G>CCA412823465SYN1c.1531C>G (p.Pro511Ala)
c.70+235C>G (n.70+235C>G)
Xg.47574453G=CA2427971304SYN1c.1531C= (p.Pro511=)
c.70+235C= (n.70+235C=)
Xg.47574453G>TCA412823470SYN1c.1531C>A (p.Pro511Thr)
c.70+235C>A (n.70+235C>A)
 gnomAD v4
Xg.47574454A>CCA412823472SYN1c.1530T>G (p.Ser510Arg)
c.70+234T>G (n.70+234T>G)
Xg.47574454A>GCA516354045SYN1c.1530T>C (p.Ser510=)
c.70+234T>C (n.70+234T>C)
Xg.47574454A>TCA412823475SYN1c.1530T>A (p.Ser510Arg)
c.70+234T>A (n.70+234T>A)
Xg.47574455C>ACA412823477SYN1c.1529G>T (p.Ser510Ile)
c.70+233G>T (n.70+233G>T)
 gnomAD v4
Xg.47574455C>GCA412823483SYN1c.1529G>C (p.Ser510Thr)
c.70+233G>C (n.70+233G>C)
Xg.47574455C>TCA412823478SYN1c.1529G>A (p.Ser510Asn)
c.70+233G>A (n.70+233G>A)
Xg.47574456T>ACA412823485SYN1c.1528A>T (p.Ser510Cys)
c.70+232A>T (n.70+232A>T)
Xg.47574456T>CCA412823486SYN1c.1528A>G (p.Ser510Gly)
c.70+232A>G (n.70+232A>G)
 gnomAD v4
Xg.47574456T>GCA412823489SYN1c.1528A>C (p.Ser510Arg)
c.70+232A>C (n.70+232A>C)
Xg.47574457T>ACA516354050SYN1c.1527A>T (p.Pro509=)
c.70+231A>T (n.70+231A>T)
Xg.47574457T>CCA516354049SYN1c.1527A>G (p.Pro509=)
c.70+231A>G (n.70+231A>G)
 gnomAD v4
Xg.47574457T>GCA516354048SYN1c.1527A>C (p.Pro509=)
c.70+231A>C (n.70+231A>C)
Xg.47574458G>ACA412823492SYN1c.1526C>T (p.Pro509Leu)
c.70+230C>T (n.70+230C>T)
 gnomAD v4
Xg.47574458G>CCA412823499SYN1c.1526C>G (p.Pro509Arg)
c.70+230C>G (n.70+230C>G)
 COSMIC COSMIC
Xg.47574458G>TCA412823502SYN1c.1526C>A (p.Pro509Gln)
c.70+230C>A (n.70+230C>A)
 gnomAD v4
Xg.47574459delCA2693585223SYN1c.1526del (p.Pro509GlnfsTer?)
c.70+230del (n.70+230del)
 gnomAD v4
Xg.47574459G>ACA412823504SYN1c.1525C>T (p.Pro509Ser)
c.70+229C>T (n.70+229C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.47574459G>CCA412823507SYN1c.1525C>G (p.Pro509Ala)
c.70+229C>G (n.70+229C>G)
 gnomAD v4
Xg.47574459G=CA2427971305SYN1c.1525C= (p.Pro509=)
c.70+229C= (n.70+229C=)
Xg.47574459G>TCA412823508SYN1c.1525C>A (p.Pro509Thr)
c.70+229C>A (n.70+229C>A)
 gnomAD v4
Xg.47574460A>CCA516354056SYN1c.1524T>G (p.Leu508=)
c.70+228T>G (n.70+228T>G)
Xg.47574460A>GCA516354055SYN1c.1524T>C (p.Leu508=)
c.70+228T>C (n.70+228T>C)
 dbSNP gnomAD v4
Xg.47574460A>TCA516354054SYN1c.1524T>A (p.Leu508=)
c.70+228T>A (n.70+228T>A)
 gnomAD v4
Xg.47574461delCA2693585224SYN1c.1524del (p.Pro509GlnfsTer?)
c.70+228del (n.70+228del)
 gnomAD v4
Xg.47574461A>CCA412823511SYN1c.1523T>G (p.Leu508Arg)
c.70+227T>G (n.70+227T>G)
Xg.47574461A>GCA412823512SYN1c.1523T>C (p.Leu508Pro)
c.70+227T>C (n.70+227T>C)
 gnomAD v4
Xg.47574461A>TCA412823514SYN1c.1523T>A (p.Leu508His)
c.70+227T>A (n.70+227T>A)
 gnomAD v4
Xg.47574462G>ACA412823520SYN1c.1522C>T (p.Leu508Phe)
c.70+226C>T (n.70+226C>T)
Xg.47574462G>CCA412823517SYN1c.1522C>G (p.Leu508Val)
c.70+226C>G (n.70+226C>G)
Xg.47574462G>TCA412823519SYN1c.1522C>A (p.Leu508Ile)
c.70+226C>A (n.70+226C>A)
 gnomAD v4
Xg.47574472_47574564delCA2693585225SYN1c.1430_1522del (p.Gln477_Arg507del)
c.70+134_70+226del (n.70+134_70+226del)
 gnomAD v4
Xg.47574463G>ACA516354058SYN1c.1521C>T (p.Arg507=)
c.70+225C>T (n.70+225C>T)
 gnomAD v4
Xg.47574463G>CCA516354062SYN1c.1521C>G (p.Arg507=)
c.70+225C>G (n.70+225C>G)
 gnomAD v4
Xg.47574463G>TCA516354059SYN1c.1521C>A (p.Arg507=)
c.70+225C>A (n.70+225C>A)
 gnomAD v4
Xg.47574464C>ACA412823524SYN1c.1520G>T (p.Arg507Leu)
c.70+224G>T (n.70+224G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574464C=CA2427971306SYN1c.1520G= (p.Arg507=)
c.70+224G= (n.70+224G=)
Xg.47574464C>GCA412823525SYN1c.1520G>C (p.Arg507Pro)
c.70+224G>C (n.70+224G>C)
Xg.47574464C>TCA412823528SYN1c.1520G>A (p.Arg507His)
c.70+224G>A (n.70+224G>A)
 gnomAD v4
Xg.47574465G>ACA412823530SYN1c.1519C>T (p.Arg507Cys)
c.70+223C>T (n.70+223C>T)
 gnomAD v4
Xg.47574465G>CCA412823531SYN1c.1519C>G (p.Arg507Gly)
c.70+223C>G (n.70+223C>G)
Xg.47574465G=CA2427971307SYN1c.1519C= (p.Arg507=)
c.70+223C= (n.70+223C=)
Xg.47574465G>TCA412823532SYN1c.1519C>A (p.Arg507Ser)
c.70+223C>A (n.70+223C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.47574466C>ACA412823534SYN1c.1518G>T (p.Gln506His)
c.70+222G>T (n.70+222G>T)
 gnomAD v4
Xg.47574466C>GCA412823536SYN1c.1518G>C (p.Gln506His)
c.70+222G>C (n.70+222G>C)
Xg.47574466C>TCA516354067SYN1c.1518G>A (p.Gln506=)
c.70+222G>A (n.70+222G>A)

Number of alleles fetched