Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74893115C>TCA2629530268MPIc.488-23C>T (n.488-23C>T)
c.487+313C>T (n.487+313C>T)
c.338-23C>T (n.338-23C>T)
c.*384-23C>T (n.*384-23C>T)
c.428-23C>T (n.428-23C>T)
c.255+1626C>T (n.255+1626C>T)
c.337+313C>T (n.337+313C>T)
c.446-23C>T (n.446-23C>T)
c.448+313C>T (n.448+313C>T)
c.452-23C>T (n.452-23C>T)
c.398-23C>T (n.398-23C>T)
c.476-23C>T (n.476-23C>T)
 dbSNP gnomAD v4
15g.74893116C>ACA715704239MPIc.488-22C>A (n.488-22C>A)
c.487+314C>A (n.487+314C>A)
c.338-22C>A (n.338-22C>A)
c.*384-22C>A (n.*384-22C>A)
c.428-22C>A (n.428-22C>A)
c.255+1627C>A (n.255+1627C>A)
c.337+314C>A (n.337+314C>A)
c.446-22C>A (n.446-22C>A)
c.448+314C>A (n.448+314C>A)
c.452-22C>A (n.452-22C>A)
c.398-22C>A (n.398-22C>A)
c.476-22C>A (n.476-22C>A)
 dbSNP gnomAD v3 gnomAD v4
15g.74893116C=CA2187897155MPIc.488-22C= (n.488-22C=)
c.487+314C= (n.487+314C=)
c.338-22C= (n.338-22C=)
c.*384-22C= (n.*384-22C=)
c.428-22C= (n.428-22C=)
c.255+1627C= (n.255+1627C=)
c.337+314C= (n.337+314C=)
c.446-22C= (n.446-22C=)
c.448+314C= (n.448+314C=)
c.452-22C= (n.452-22C=)
c.398-22C= (n.398-22C=)
c.476-22C= (n.476-22C=)
15g.74893116C>TCA2187897156MPIc.488-22C>T (n.488-22C>T)
c.487+314C>T (n.487+314C>T)
c.338-22C>T (n.338-22C>T)
c.*384-22C>T (n.*384-22C>T)
c.428-22C>T (n.428-22C>T)
c.255+1627C>T (n.255+1627C>T)
c.337+314C>T (n.337+314C>T)
c.446-22C>T (n.446-22C>T)
c.448+314C>T (n.448+314C>T)
c.452-22C>T (n.452-22C>T)
c.398-22C>T (n.398-22C>T)
c.476-22C>T (n.476-22C>T)
 dbSNP gnomAD v4
15g.74893117C>TCA2629530274MPIc.488-21C>T (n.488-21C>T)
c.487+315C>T (n.487+315C>T)
c.338-21C>T (n.338-21C>T)
c.*384-21C>T (n.*384-21C>T)
c.428-21C>T (n.428-21C>T)
c.255+1628C>T (n.255+1628C>T)
c.337+315C>T (n.337+315C>T)
c.446-21C>T (n.446-21C>T)
c.448+315C>T (n.448+315C>T)
c.452-21C>T (n.452-21C>T)
c.398-21C>T (n.398-21C>T)
c.476-21C>T (n.476-21C>T)
 gnomAD v4
15g.74893118_74893119insAACCAAAGAGCCGGCAATGCTAACA2526741620MPIc.488-20_488-19insAACCAAAGAGCCGGCAATGCTAA (n.488-20_488-19insAACCAAAGAGCCGGCAATGCTAA)
c.487+316_487+317insAACCAAAGAGCCGGCAATGCTAA (n.487+316_487+317insAACCAAAGAGCCGGCAATGCTAA)
c.338-20_338-19insAACCAAAGAGCCGGCAATGCTAA (n.338-20_338-19insAACCAAAGAGCCGGCAATGCTAA)
c.*384-20_*384-19insAACCAAAGAGCCGGCAATGCTAA (n.*384-20_*384-19insAACCAAAGAGCCGGCAATGCTAA)
c.428-20_428-19insAACCAAAGAGCCGGCAATGCTAA (n.428-20_428-19insAACCAAAGAGCCGGCAATGCTAA)
c.255+1629_255+1630insAACCAAAGAGCCGGCAATGCTAA (n.255+1629_255+1630insAACCAAAGAGCCGGCAATGCTAA)
c.337+316_337+317insAACCAAAGAGCCGGCAATGCTAA (n.337+316_337+317insAACCAAAGAGCCGGCAATGCTAA)
c.446-20_446-19insAACCAAAGAGCCGGCAATGCTAA (n.446-20_446-19insAACCAAAGAGCCGGCAATGCTAA)
c.448+316_448+317insAACCAAAGAGCCGGCAATGCTAA (n.448+316_448+317insAACCAAAGAGCCGGCAATGCTAA)
c.452-20_452-19insAACCAAAGAGCCGGCAATGCTAA (n.452-20_452-19insAACCAAAGAGCCGGCAATGCTAA)
c.398-20_398-19insAACCAAAGAGCCGGCAATGCTAA (n.398-20_398-19insAACCAAAGAGCCGGCAATGCTAA)
c.476-20_476-19insAACCAAAGAGCCGGCAATGCTAA (n.476-20_476-19insAACCAAAGAGCCGGCAATGCTAA)
15g.74893119G>CCA272823480MPIc.488-19G>C (n.488-19G>C)
c.487+317G>C (n.487+317G>C)
c.338-19G>C (n.338-19G>C)
c.*384-19G>C (n.*384-19G>C)
c.428-19G>C (n.428-19G>C)
c.255+1630G>C (n.255+1630G>C)
c.337+317G>C (n.337+317G>C)
c.446-19G>C (n.446-19G>C)
c.448+317G>C (n.448+317G>C)
c.452-19G>C (n.452-19G>C)
c.398-19G>C (n.398-19G>C)
c.476-19G>C (n.476-19G>C)
 dbSNP
15g.74893119G=CA2187897158MPIc.488-19G= (n.488-19G=)
c.487+317G= (n.487+317G=)
c.338-19G= (n.338-19G=)
c.*384-19G= (n.*384-19G=)
c.428-19G= (n.428-19G=)
c.255+1630G= (n.255+1630G=)
c.337+317G= (n.337+317G=)
c.446-19G= (n.446-19G=)
c.448+317G= (n.448+317G=)
c.452-19G= (n.452-19G=)
c.398-19G= (n.398-19G=)
c.476-19G= (n.476-19G=)
15g.74893119G>TCA2575791691MPIc.488-19G>T (n.488-19G>T)
c.487+317G>T (n.487+317G>T)
c.338-19G>T (n.338-19G>T)
c.*384-19G>T (n.*384-19G>T)
c.428-19G>T (n.428-19G>T)
c.255+1630G>T (n.255+1630G>T)
c.337+317G>T (n.337+317G>T)
c.446-19G>T (n.446-19G>T)
c.448+317G>T (n.448+317G>T)
c.452-19G>T (n.452-19G>T)
c.398-19G>T (n.398-19G>T)
c.476-19G>T (n.476-19G>T)
15g.74893121G>ACA491491250MPIc.488-17G>A (n.488-17G>A)
c.487+319G>A (n.487+319G>A)
c.338-17G>A (n.338-17G>A)
c.*384-17G>A (n.*384-17G>A)
c.428-17G>A (n.428-17G>A)
c.255+1632G>A (n.255+1632G>A)
c.337+319G>A (n.337+319G>A)
c.446-17G>A (n.446-17G>A)
c.448+319G>A (n.448+319G>A)
c.452-17G>A (n.452-17G>A)
c.398-17G>A (n.398-17G>A)
c.476-17G>A (n.476-17G>A)
 ClinVar dbSNP gnomAD v4
15g.74893121G=CA2187897160MPIc.488-17G= (n.488-17G=)
c.487+319G= (n.487+319G=)
c.338-17G= (n.338-17G=)
c.*384-17G= (n.*384-17G=)
c.428-17G= (n.428-17G=)
c.255+1632G= (n.255+1632G=)
c.337+319G= (n.337+319G=)
c.446-17G= (n.446-17G=)
c.448+319G= (n.448+319G=)
c.452-17G= (n.452-17G=)
c.398-17G= (n.398-17G=)
c.476-17G= (n.476-17G=)
15g.74893122C>TCA2629530277MPIc.488-16C>T (n.488-16C>T)
c.487+320C>T (n.487+320C>T)
c.338-16C>T (n.338-16C>T)
c.*384-16C>T (n.*384-16C>T)
c.428-16C>T (n.428-16C>T)
c.255+1633C>T (n.255+1633C>T)
c.337+320C>T (n.337+320C>T)
c.446-16C>T (n.446-16C>T)
c.448+320C>T (n.448+320C>T)
c.452-16C>T (n.452-16C>T)
c.398-16C>T (n.398-16C>T)
c.476-16C>T (n.476-16C>T)
 gnomAD v4
15g.74893123C=CA2187897163MPIc.488-15C= (n.488-15C=)
c.487+321C= (n.487+321C=)
c.338-15C= (n.338-15C=)
c.*384-15C= (n.*384-15C=)
c.428-15C= (n.428-15C=)
c.255+1634C= (n.255+1634C=)
c.337+321C= (n.337+321C=)
c.446-15C= (n.446-15C=)
c.448+321C= (n.448+321C=)
c.452-15C= (n.452-15C=)
c.398-15C= (n.398-15C=)
c.476-15C= (n.476-15C=)
15g.74893123C>TCA619413217MPIc.488-15C>T (n.488-15C>T)
c.487+321C>T (n.487+321C>T)
c.338-15C>T (n.338-15C>T)
c.*384-15C>T (n.*384-15C>T)
c.428-15C>T (n.428-15C>T)
c.255+1634C>T (n.255+1634C>T)
c.337+321C>T (n.337+321C>T)
c.446-15C>T (n.446-15C>T)
c.448+321C>T (n.448+321C>T)
c.452-15C>T (n.452-15C>T)
c.398-15C>T (n.398-15C>T)
c.476-15C>T (n.476-15C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.74893124T>GCA7662458MPIc.488-14T>G (n.488-14T>G)
c.487+322T>G (n.487+322T>G)
c.338-14T>G (n.338-14T>G)
c.*384-14T>G (n.*384-14T>G)
c.428-14T>G (n.428-14T>G)
c.255+1635T>G (n.255+1635T>G)
c.337+322T>G (n.337+322T>G)
c.446-14T>G (n.446-14T>G)
c.448+322T>G (n.448+322T>G)
c.452-14T>G (n.452-14T>G)
c.398-14T>G (n.398-14T>G)
c.476-14T>G (n.476-14T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74893124T=CA2187897165MPIc.488-14T= (n.488-14T=)
c.487+322T= (n.487+322T=)
c.338-14T= (n.338-14T=)
c.*384-14T= (n.*384-14T=)
c.428-14T= (n.428-14T=)
c.255+1635T= (n.255+1635T=)
c.337+322T= (n.337+322T=)
c.446-14T= (n.446-14T=)
c.448+322T= (n.448+322T=)
c.452-14T= (n.452-14T=)
c.398-14T= (n.398-14T=)
c.476-14T= (n.476-14T=)
15g.74893125T>GCA2731163353MPIc.488-13T>G (n.488-13T>G)
c.487+323T>G (n.487+323T>G)
c.338-13T>G (n.338-13T>G)
c.*384-13T>G (n.*384-13T>G)
c.428-13T>G (n.428-13T>G)
c.255+1636T>G (n.255+1636T>G)
c.337+323T>G (n.337+323T>G)
c.446-13T>G (n.446-13T>G)
c.448+323T>G (n.448+323T>G)
c.452-13T>G (n.452-13T>G)
c.398-13T>G (n.398-13T>G)
c.476-13T>G (n.476-13T>G)
 dbSNP
15g.74893126G>ACA2573151151MPIc.488-12G>A (n.488-12G>A)
c.487+324G>A (n.487+324G>A)
c.338-12G>A (n.338-12G>A)
c.*384-12G>A (n.*384-12G>A)
c.428-12G>A (n.428-12G>A)
c.255+1637G>A (n.255+1637G>A)
c.337+324G>A (n.337+324G>A)
c.446-12G>A (n.446-12G>A)
c.448+324G>A (n.448+324G>A)
c.452-12G>A (n.452-12G>A)
c.398-12G>A (n.398-12G>A)
c.476-12G>A (n.476-12G>A)
 ClinVar dbSNP
15g.74893126G>CCA272823497MPIc.488-12G>C (n.488-12G>C)
c.487+324G>C (n.487+324G>C)
c.338-12G>C (n.338-12G>C)
c.*384-12G>C (n.*384-12G>C)
c.428-12G>C (n.428-12G>C)
c.255+1637G>C (n.255+1637G>C)
c.337+324G>C (n.337+324G>C)
c.446-12G>C (n.446-12G>C)
c.448+324G>C (n.448+324G>C)
c.452-12G>C (n.452-12G>C)
c.398-12G>C (n.398-12G>C)
c.476-12G>C (n.476-12G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893126G=CA2187897167MPIc.488-12G= (n.488-12G=)
c.487+324G= (n.487+324G=)
c.338-12G= (n.338-12G=)
c.*384-12G= (n.*384-12G=)
c.428-12G= (n.428-12G=)
c.255+1637G= (n.255+1637G=)
c.337+324G= (n.337+324G=)
c.446-12G= (n.446-12G=)
c.448+324G= (n.448+324G=)
c.452-12G= (n.452-12G=)
c.398-12G= (n.398-12G=)
c.476-12G= (n.476-12G=)
15g.74893126G>TCA2187897168MPIc.488-12G>T (n.488-12G>T)
c.487+324G>T (n.487+324G>T)
c.338-12G>T (n.338-12G>T)
c.*384-12G>T (n.*384-12G>T)
c.428-12G>T (n.428-12G>T)
c.255+1637G>T (n.255+1637G>T)
c.337+324G>T (n.337+324G>T)
c.446-12G>T (n.446-12G>T)
c.448+324G>T (n.448+324G>T)
c.452-12G>T (n.452-12G>T)
c.398-12G>T (n.398-12G>T)
c.476-12G>T (n.476-12G>T)
 dbSNP
15g.74893129T>ACA2629530293MPIc.488-9T>A (n.488-9T>A)
c.487+327T>A (n.487+327T>A)
c.338-9T>A (n.338-9T>A)
c.*384-9T>A (n.*384-9T>A)
c.428-9T>A (n.428-9T>A)
c.255+1640T>A (n.255+1640T>A)
c.337+327T>A (n.337+327T>A)
c.446-9T>A (n.446-9T>A)
c.448+327T>A (n.448+327T>A)
c.452-9T>A (n.452-9T>A)
c.398-9T>A (n.398-9T>A)
c.476-9T>A (n.476-9T>A)
 gnomAD v4
15g.74893132C>TCA2629530296MPIc.488-6C>T (n.488-6C>T)
c.487+330C>T (n.487+330C>T)
c.338-6C>T (n.338-6C>T)
c.*384-6C>T (n.*384-6C>T)
c.428-6C>T (n.428-6C>T)
c.255+1643C>T (n.255+1643C>T)
c.337+330C>T (n.337+330C>T)
c.446-6C>T (n.446-6C>T)
c.448+330C>T (n.448+330C>T)
c.452-6C>T (n.452-6C>T)
c.398-6C>T (n.398-6C>T)
c.476-6C>T (n.476-6C>T)
 gnomAD v4
15g.74893133T>CCA2573151152MPIc.488-5T>C (n.488-5T>C)
c.487+331T>C (n.487+331T>C)
c.338-5T>C (n.338-5T>C)
c.*384-5T>C (n.*384-5T>C)
c.428-5T>C (n.428-5T>C)
c.255+1644T>C (n.255+1644T>C)
c.337+331T>C (n.337+331T>C)
c.446-5T>C (n.446-5T>C)
c.448+331T>C (n.448+331T>C)
c.452-5T>C (n.452-5T>C)
c.398-5T>C (n.398-5T>C)
c.476-5T>C (n.476-5T>C)
 ClinVar dbSNP
15g.74893134G>ACA619413218MPIc.488-4G>A (n.488-4G>A)
c.487+332G>A (n.487+332G>A)
c.338-4G>A (n.338-4G>A)
c.*384-4G>A (n.*384-4G>A)
c.428-4G>A (n.428-4G>A)
c.255+1645G>A (n.255+1645G>A)
c.337+332G>A (n.337+332G>A)
c.446-4G>A (n.446-4G>A)
c.448+332G>A (n.448+332G>A)
c.452-4G>A (n.452-4G>A)
c.398-4G>A (n.398-4G>A)
c.476-4G>A (n.476-4G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.74893134G=CA2187897170MPIc.488-4G= (n.488-4G=)
c.487+332G= (n.487+332G=)
c.338-4G= (n.338-4G=)
c.*384-4G= (n.*384-4G=)
c.428-4G= (n.428-4G=)
c.255+1645G= (n.255+1645G=)
c.337+332G= (n.337+332G=)
c.446-4G= (n.446-4G=)
c.448+332G= (n.448+332G=)
c.452-4G= (n.452-4G=)
c.398-4G= (n.398-4G=)
c.476-4G= (n.476-4G=)
15g.74893134G>TCA272823507MPIc.488-4G>T (n.488-4G>T)
c.487+332G>T (n.487+332G>T)
c.338-4G>T (n.338-4G>T)
c.*384-4G>T (n.*384-4G>T)
c.428-4G>T (n.428-4G>T)
c.255+1645G>T (n.255+1645G>T)
c.337+332G>T (n.337+332G>T)
c.446-4G>T (n.446-4G>T)
c.448+332G>T (n.448+332G>T)
c.452-4G>T (n.452-4G>T)
c.398-4G>T (n.398-4G>T)
c.476-4G>T (n.476-4G>T)
 dbSNP gnomAD v4
15g.74893135T>CCA2804770630MPIc.488-3T>C (n.488-3T>C)
c.487+333T>C (n.487+333T>C)
c.338-3T>C (n.338-3T>C)
c.*384-3T>C (n.*384-3T>C)
c.428-3T>C (n.428-3T>C)
c.255+1646T>C (n.255+1646T>C)
c.337+333T>C (n.337+333T>C)
c.446-3T>C (n.446-3T>C)
c.448+333T>C (n.448+333T>C)
c.452-3T>C (n.452-3T>C)
c.398-3T>C (n.398-3T>C)
c.476-3T>C (n.476-3T>C)
15g.74893136A>CCA393173938MPIc.488-2A>C (n.488-2A>C)
c.487+334A>C (n.487+334A>C)
c.338-2A>C (n.338-2A>C)
c.*384-2A>C (n.*384-2A>C)
c.428-2A>C (n.428-2A>C)
c.255+1647A>C (n.255+1647A>C)
c.337+334A>C (n.337+334A>C)
c.446-2A>C (n.446-2A>C)
c.448+334A>C (n.448+334A>C)
c.452-2A>C (n.452-2A>C)
c.398-2A>C (n.398-2A>C)
c.476-2A>C (n.476-2A>C)
15g.74893136A>GCA393173941MPIc.488-2A>G (n.488-2A>G)
c.487+334A>G (n.487+334A>G)
c.338-2A>G (n.338-2A>G)
c.*384-2A>G (n.*384-2A>G)
c.428-2A>G (n.428-2A>G)
c.255+1647A>G (n.255+1647A>G)
c.337+334A>G (n.337+334A>G)
c.446-2A>G (n.446-2A>G)
c.448+334A>G (n.448+334A>G)
c.452-2A>G (n.452-2A>G)
c.398-2A>G (n.398-2A>G)
c.476-2A>G (n.476-2A>G)
15g.74893136A>TCA393173943MPIc.488-2A>T (n.488-2A>T)
c.487+334A>T (n.487+334A>T)
c.338-2A>T (n.338-2A>T)
c.*384-2A>T (n.*384-2A>T)
c.428-2A>T (n.428-2A>T)
c.255+1647A>T (n.255+1647A>T)
c.337+334A>T (n.337+334A>T)
c.446-2A>T (n.446-2A>T)
c.448+334A>T (n.448+334A>T)
c.452-2A>T (n.452-2A>T)
c.398-2A>T (n.398-2A>T)
c.476-2A>T (n.476-2A>T)
15g.74893137G>ACA16041748MPIc.488-1G>A (n.488-1G>A)
c.487+335G>A (n.487+335G>A)
c.338-1G>A (n.338-1G>A)
c.*384-1G>A (n.*384-1G>A)
c.428-1G>A (n.428-1G>A)
c.255+1648G>A (n.255+1648G>A)
c.337+335G>A (n.337+335G>A)
c.446-1G>A (n.446-1G>A)
c.448+335G>A (n.448+335G>A)
c.452-1G>A (n.452-1G>A)
c.398-1G>A (n.398-1G>A)
c.476-1G>A (n.476-1G>A)
 ClinVar dbSNP
15g.74893137G>CCA7662459MPIc.488-1G>C (n.488-1G>C)
c.487+335G>C (n.487+335G>C)
c.338-1G>C (n.338-1G>C)
c.*384-1G>C (n.*384-1G>C)
c.428-1G>C (n.428-1G>C)
c.255+1648G>C (n.255+1648G>C)
c.337+335G>C (n.337+335G>C)
c.446-1G>C (n.446-1G>C)
c.448+335G>C (n.448+335G>C)
c.452-1G>C (n.452-1G>C)
c.398-1G>C (n.398-1G>C)
c.476-1G>C (n.476-1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893137G=CA2187897176MPIc.488-1G= (n.488-1G=)
c.487+335G= (n.487+335G=)
c.338-1G= (n.338-1G=)
c.*384-1G= (n.*384-1G=)
c.428-1G= (n.428-1G=)
c.255+1648G= (n.255+1648G=)
c.337+335G= (n.337+335G=)
c.446-1G= (n.446-1G=)
c.448+335G= (n.448+335G=)
c.452-1G= (n.452-1G=)
c.398-1G= (n.398-1G=)
c.476-1G= (n.476-1G=)
15g.74893137G>TCA393173949MPIc.488-1G>T (n.488-1G>T)
c.487+335G>T (n.487+335G>T)
c.338-1G>T (n.338-1G>T)
c.*384-1G>T (n.*384-1G>T)
c.428-1G>T (n.428-1G>T)
c.255+1648G>T (n.255+1648G>T)
c.337+335G>T (n.337+335G>T)
c.446-1G>T (n.446-1G>T)
c.448+335G>T (n.448+335G>T)
c.452-1G>T (n.452-1G>T)
c.398-1G>T (n.398-1G>T)
c.476-1G>T (n.476-1G>T)
15g.74893138A>CCA393173951MPIc.488A>C (p.Lys163Thr)
c.487+336A>C (n.487+336A>C)
c.338A>C (p.Lys113Thr)
c.*384A>C (n.*384A>C)
c.428A>C (p.Lys143Thr)
c.255+1649A>C (n.255+1649A>C)
c.337+336A>C (n.337+336A>C)
c.446A>C (p.Lys149Thr)
c.448+336A>C (n.448+336A>C)
c.452A>C (p.Lys151Thr)
c.398A>C (p.Lys133Thr)
c.476A>C (p.Lys159Thr)
15g.74893138A>GCA393173952MPIc.488A>G (p.Lys163Arg)
c.487+336A>G (n.487+336A>G)
c.338A>G (p.Lys113Arg)
c.*384A>G (n.*384A>G)
c.428A>G (p.Lys143Arg)
c.255+1649A>G (n.255+1649A>G)
c.337+336A>G (n.337+336A>G)
c.446A>G (p.Lys149Arg)
c.448+336A>G (n.448+336A>G)
c.452A>G (p.Lys151Arg)
c.398A>G (p.Lys133Arg)
c.476A>G (p.Lys159Arg)
15g.74893138A>TCA393173953MPIc.488A>T (p.Lys163Met)
c.487+336A>T (n.487+336A>T)
c.338A>T (p.Lys113Met)
c.*384A>T (n.*384A>T)
c.428A>T (p.Lys143Met)
c.255+1649A>T (n.255+1649A>T)
c.337+336A>T (n.337+336A>T)
c.446A>T (p.Lys149Met)
c.448+336A>T (n.448+336A>T)
c.452A>T (p.Lys151Met)
c.398A>T (p.Lys133Met)
c.476A>T (p.Lys159Met)
15g.74893139G>ACA491491251MPIc.489G>A (p.Lys163=)
c.487+337G>A (n.487+337G>A)
c.339G>A (p.Lys113=)
c.*385G>A (n.*385G>A)
c.429G>A (p.Lys143=)
c.255+1650G>A (n.255+1650G>A)
c.337+337G>A (n.337+337G>A)
c.447G>A (p.Lys149=)
c.448+337G>A (n.448+337G>A)
c.453G>A (p.Lys151=)
c.399G>A (p.Lys133=)
c.477G>A (p.Lys159=)
 dbSNP gnomAD v4
15g.74893139G>CCA393173955MPIc.489G>C (p.Lys163Asn)
c.487+337G>C (n.487+337G>C)
c.339G>C (p.Lys113Asn)
c.*385G>C (n.*385G>C)
c.429G>C (p.Lys143Asn)
c.255+1650G>C (n.255+1650G>C)
c.337+337G>C (n.337+337G>C)
c.447G>C (p.Lys149Asn)
c.448+337G>C (n.448+337G>C)
c.453G>C (p.Lys151Asn)
c.399G>C (p.Lys133Asn)
c.477G>C (p.Lys159Asn)
15g.74893139G=CA2187897180MPIc.489G= (p.Lys163=)
c.487+337G= (n.487+337G=)
c.339G= (p.Lys113=)
c.*385G= (n.*385G=)
c.429G= (p.Lys143=)
c.255+1650G= (n.255+1650G=)
c.337+337G= (n.337+337G=)
c.447G= (p.Lys149=)
c.448+337G= (n.448+337G=)
c.453G= (p.Lys151=)
c.399G= (p.Lys133=)
c.477G= (p.Lys159=)
15g.74893139G>TCA393173957MPIc.489G>T (p.Lys163Asn)
c.487+337G>T (n.487+337G>T)
c.339G>T (p.Lys113Asn)
c.*385G>T (n.*385G>T)
c.429G>T (p.Lys143Asn)
c.255+1650G>T (n.255+1650G>T)
c.337+337G>T (n.337+337G>T)
c.447G>T (p.Lys149Asn)
c.448+337G>T (n.448+337G>T)
c.453G>T (p.Lys151Asn)
c.399G>T (p.Lys133Asn)
c.477G>T (p.Lys159Asn)
 gnomAD v4
15g.74893140delCA2697549217MPIc.490del (p.Val164CysfsTer7)
c.487+338del (n.487+338del)
c.340del (p.Val114CysfsTer7)
c.*386del (n.*386del)
c.430del (p.Val144CysfsTer7)
c.255+1651del (n.255+1651del)
c.337+338del (n.337+338del)
c.448del (p.Val150CysfsTer7)
c.448+338del (n.448+338del)
c.454del (p.Val152CysfsTer7)
c.400del (p.Val134CysfsTer7)
c.478del (p.Val160CysfsTer7)
 ClinVar
15g.74893140G>ACA393173960MPIc.490G>A (p.Val164Met)
c.487+338G>A (n.487+338G>A)
c.340G>A (p.Val114Met)
c.*386G>A (n.*386G>A)
c.430G>A (p.Val144Met)
c.255+1651G>A (n.255+1651G>A)
c.337+338G>A (n.337+338G>A)
c.448G>A (p.Val150Met)
c.448+338G>A (n.448+338G>A)
c.454G>A (p.Val152Met)
c.400G>A (p.Val134Met)
c.478G>A (p.Val160Met)
 gnomAD v4
15g.74893140G>CCA393173963MPIc.490G>C (p.Val164Leu)
c.487+338G>C (n.487+338G>C)
c.340G>C (p.Val114Leu)
c.*386G>C (n.*386G>C)
c.430G>C (p.Val144Leu)
c.255+1651G>C (n.255+1651G>C)
c.337+338G>C (n.337+338G>C)
c.448G>C (p.Val150Leu)
c.448+338G>C (n.448+338G>C)
c.454G>C (p.Val152Leu)
c.400G>C (p.Val134Leu)
c.478G>C (p.Val160Leu)
 gnomAD v4
15g.74893140G=CA2187897182MPIc.490G= (p.Val164=)
c.487+338G= (n.487+338G=)
c.340G= (p.Val114=)
c.*386G= (n.*386G=)
c.430G= (p.Val144=)
c.255+1651G= (n.255+1651G=)
c.337+338G= (n.337+338G=)
c.448G= (p.Val150=)
c.448+338G= (n.448+338G=)
c.454G= (p.Val152=)
c.400G= (p.Val134=)
c.478G= (p.Val160=)
15g.74893140G>TCA393173965MPIc.490G>T (p.Val164Leu)
c.487+338G>T (n.487+338G>T)
c.340G>T (p.Val114Leu)
c.*386G>T (n.*386G>T)
c.430G>T (p.Val144Leu)
c.255+1651G>T (n.255+1651G>T)
c.337+338G>T (n.337+338G>T)
c.448G>T (p.Val150Leu)
c.448+338G>T (n.448+338G>T)
c.454G>T (p.Val152Leu)
c.400G>T (p.Val134Leu)
c.478G>T (p.Val160Leu)
 dbSNP
15g.74893141T>ACA393173967MPIc.491T>A (p.Val164Glu)
c.487+339T>A (n.487+339T>A)
c.341T>A (p.Val114Glu)
c.*387T>A (n.*387T>A)
c.431T>A (p.Val144Glu)
c.255+1652T>A (n.255+1652T>A)
c.337+339T>A (n.337+339T>A)
c.449T>A (p.Val150Glu)
c.448+339T>A (n.448+339T>A)
c.455T>A (p.Val152Glu)
c.401T>A (p.Val134Glu)
c.479T>A (p.Val160Glu)
15g.74893141T>CCA393173969MPIc.491T>C (p.Val164Ala)
c.487+339T>C (n.487+339T>C)
c.341T>C (p.Val114Ala)
c.*387T>C (n.*387T>C)
c.431T>C (p.Val144Ala)
c.255+1652T>C (n.255+1652T>C)
c.337+339T>C (n.337+339T>C)
c.449T>C (p.Val150Ala)
c.448+339T>C (n.448+339T>C)
c.455T>C (p.Val152Ala)
c.401T>C (p.Val134Ala)
c.479T>C (p.Val160Ala)
 gnomAD v4
15g.74893141T>GCA393173971MPIc.491T>G (p.Val164Gly)
c.487+339T>G (n.487+339T>G)
c.341T>G (p.Val114Gly)
c.*387T>G (n.*387T>G)
c.431T>G (p.Val144Gly)
c.255+1652T>G (n.255+1652T>G)
c.337+339T>G (n.337+339T>G)
c.449T>G (p.Val150Gly)
c.448+339T>G (n.448+339T>G)
c.455T>G (p.Val152Gly)
c.401T>G (p.Val134Gly)
c.479T>G (p.Val160Gly)
15g.74893142G>ACA491491252MPIc.492G>A (p.Val164=)
c.487+340G>A (n.487+340G>A)
c.342G>A (p.Val114=)
c.*388G>A (n.*388G>A)
c.432G>A (p.Val144=)
c.255+1653G>A (n.255+1653G>A)
c.337+340G>A (n.337+340G>A)
c.450G>A (p.Val150=)
c.448+340G>A (n.448+340G>A)
c.456G>A (p.Val152=)
c.402G>A (p.Val134=)
c.480G>A (p.Val160=)
 ClinVar dbSNP gnomAD v4
15g.74893142G>CCA491491253MPIc.492G>C (p.Val164=)
c.487+340G>C (n.487+340G>C)
c.342G>C (p.Val114=)
c.*388G>C (n.*388G>C)
c.432G>C (p.Val144=)
c.255+1653G>C (n.255+1653G>C)
c.337+340G>C (n.337+340G>C)
c.450G>C (p.Val150=)
c.448+340G>C (n.448+340G>C)
c.456G>C (p.Val152=)
c.402G>C (p.Val134=)
c.480G>C (p.Val160=)
15g.74893142G>TCA491491254MPIc.492G>T (p.Val164=)
c.487+340G>T (n.487+340G>T)
c.342G>T (p.Val114=)
c.*388G>T (n.*388G>T)
c.432G>T (p.Val144=)
c.255+1653G>T (n.255+1653G>T)
c.337+340G>T (n.337+340G>T)
c.450G>T (p.Val150=)
c.448+340G>T (n.448+340G>T)
c.456G>T (p.Val152=)
c.402G>T (p.Val134=)
c.480G>T (p.Val160=)
15g.74893143C>ACA393173973MPIc.493C>A (p.Pro165Thr)
c.487+341C>A (n.487+341C>A)
c.343C>A (p.Pro115Thr)
c.*389C>A (n.*389C>A)
c.433C>A (p.Pro145Thr)
c.255+1654C>A (n.255+1654C>A)
c.337+341C>A (n.337+341C>A)
c.451C>A (p.Pro151Thr)
c.448+341C>A (n.448+341C>A)
c.457C>A (p.Pro153Thr)
c.403C>A (p.Pro135Thr)
c.481C>A (p.Pro161Thr)
15g.74893143C>GCA393173975MPIc.493C>G (p.Pro165Ala)
c.487+341C>G (n.487+341C>G)
c.343C>G (p.Pro115Ala)
c.*389C>G (n.*389C>G)
c.433C>G (p.Pro145Ala)
c.255+1654C>G (n.255+1654C>G)
c.337+341C>G (n.337+341C>G)
c.451C>G (p.Pro151Ala)
c.448+341C>G (n.448+341C>G)
c.457C>G (p.Pro153Ala)
c.403C>G (p.Pro135Ala)
c.481C>G (p.Pro161Ala)
15g.74893143C>TCA393173977MPIc.493C>T (p.Pro165Ser)
c.487+341C>T (n.487+341C>T)
c.343C>T (p.Pro115Ser)
c.*389C>T (n.*389C>T)
c.433C>T (p.Pro145Ser)
c.255+1654C>T (n.255+1654C>T)
c.337+341C>T (n.337+341C>T)
c.451C>T (p.Pro151Ser)
c.448+341C>T (n.448+341C>T)
c.457C>T (p.Pro153Ser)
c.403C>T (p.Pro135Ser)
c.481C>T (p.Pro161Ser)
 gnomAD v4
15g.74893144C>ACA393173979MPIc.494C>A (p.Pro165His)
c.487+342C>A (n.487+342C>A)
c.344C>A (p.Pro115His)
c.*390C>A (n.*390C>A)
c.434C>A (p.Pro145His)
c.255+1655C>A (n.255+1655C>A)
c.337+342C>A (n.337+342C>A)
c.452C>A (p.Pro151His)
c.448+342C>A (n.448+342C>A)
c.458C>A (p.Pro153His)
c.404C>A (p.Pro135His)
c.482C>A (p.Pro161His)
15g.74893144C>GCA393173982MPIc.494C>G (p.Pro165Arg)
c.487+342C>G (n.487+342C>G)
c.344C>G (p.Pro115Arg)
c.*390C>G (n.*390C>G)
c.434C>G (p.Pro145Arg)
c.255+1655C>G (n.255+1655C>G)
c.337+342C>G (n.337+342C>G)
c.452C>G (p.Pro151Arg)
c.448+342C>G (n.448+342C>G)
c.458C>G (p.Pro153Arg)
c.404C>G (p.Pro135Arg)
c.482C>G (p.Pro161Arg)
 gnomAD v4
15g.74893144C>TCA393173985MPIc.494C>T (p.Pro165Leu)
c.487+342C>T (n.487+342C>T)
c.344C>T (p.Pro115Leu)
c.*390C>T (n.*390C>T)
c.434C>T (p.Pro145Leu)
c.255+1655C>T (n.255+1655C>T)
c.337+342C>T (n.337+342C>T)
c.452C>T (p.Pro151Leu)
c.448+342C>T (n.448+342C>T)
c.458C>T (p.Pro153Leu)
c.404C>T (p.Pro135Leu)
c.482C>T (p.Pro161Leu)
 gnomAD v4
15g.74893145T>ACA491491255MPIc.495T>A (p.Pro165=)
c.487+343T>A (n.487+343T>A)
c.345T>A (p.Pro115=)
c.*391T>A (n.*391T>A)
c.435T>A (p.Pro145=)
c.255+1656T>A (n.255+1656T>A)
c.337+343T>A (n.337+343T>A)
c.453T>A (p.Pro151=)
c.448+343T>A (n.448+343T>A)
c.459T>A (p.Pro153=)
c.405T>A (p.Pro135=)
c.483T>A (p.Pro161=)
15g.74893145T>CCA491491256MPIc.495T>C (p.Pro165=)
c.487+343T>C (n.487+343T>C)
c.345T>C (p.Pro115=)
c.*391T>C (n.*391T>C)
c.435T>C (p.Pro145=)
c.255+1656T>C (n.255+1656T>C)
c.337+343T>C (n.337+343T>C)
c.453T>C (p.Pro151=)
c.448+343T>C (n.448+343T>C)
c.459T>C (p.Pro153=)
c.405T>C (p.Pro135=)
c.483T>C (p.Pro161=)
 gnomAD v4
15g.74893145T>GCA491491257MPIc.495T>G (p.Pro165=)
c.487+343T>G (n.487+343T>G)
c.345T>G (p.Pro115=)
c.*391T>G (n.*391T>G)
c.435T>G (p.Pro145=)
c.255+1656T>G (n.255+1656T>G)
c.337+343T>G (n.337+343T>G)
c.453T>G (p.Pro151=)
c.448+343T>G (n.448+343T>G)
c.459T>G (p.Pro153=)
c.405T>G (p.Pro135=)
c.483T>G (p.Pro161=)
15g.74893146G>ACA393174014MPIc.496G>A (p.Glu166Lys)
c.487+344G>A (n.487+344G>A)
c.346G>A (p.Glu116Lys)
c.*392G>A (n.*392G>A)
c.436G>A (p.Glu146Lys)
c.255+1657G>A (n.255+1657G>A)
c.337+344G>A (n.337+344G>A)
c.454G>A (p.Glu152Lys)
c.448+344G>A (n.448+344G>A)
c.460G>A (p.Glu154Lys)
c.406G>A (p.Glu136Lys)
c.484G>A (p.Glu162Lys)
15g.74893146G>CCA393174008MPIc.496G>C (p.Glu166Gln)
c.487+344G>C (n.487+344G>C)
c.346G>C (p.Glu116Gln)
c.*392G>C (n.*392G>C)
c.436G>C (p.Glu146Gln)
c.255+1657G>C (n.255+1657G>C)
c.337+344G>C (n.337+344G>C)
c.454G>C (p.Glu152Gln)
c.448+344G>C (n.448+344G>C)
c.460G>C (p.Glu154Gln)
c.406G>C (p.Glu136Gln)
c.484G>C (p.Glu162Gln)
15g.74893146G>TCA393173996MPIc.496G>T (p.Glu166Ter)
c.487+344G>T (n.487+344G>T)
c.346G>T (p.Glu116Ter)
c.*392G>T (n.*392G>T)
c.436G>T (p.Glu146Ter)
c.255+1657G>T (n.255+1657G>T)
c.337+344G>T (n.337+344G>T)
c.454G>T (p.Glu152Ter)
c.448+344G>T (n.448+344G>T)
c.460G>T (p.Glu154Ter)
c.406G>T (p.Glu136Ter)
c.484G>T (p.Glu162Ter)
15g.74893147_74893148delCA2573054103MPIc.497_498del (p.Glu166ValfsTer8)
c.487+345_487+346del (n.487+345_487+346del)
c.347_348del (p.Glu116ValfsTer8)
c.*393_*394del (n.*393_*394del)
c.437_438del (p.Glu146ValfsTer8)
c.255+1658_255+1659del (n.255+1658_255+1659del)
c.337+345_337+346del (n.337+345_337+346del)
c.455_456del (p.Glu152ValfsTer8)
c.448+345_448+346del (n.448+345_448+346del)
c.461_462del (p.Glu154ValfsTer8)
c.407_408del (p.Glu136ValfsTer8)
c.485_486del (p.Glu162ValfsTer8)
 ClinVar dbSNP gnomAD v4
15g.74893147A>CCA393174016MPIc.497A>C (p.Glu166Ala)
c.487+345A>C (n.487+345A>C)
c.347A>C (p.Glu116Ala)
c.*393A>C (n.*393A>C)
c.437A>C (p.Glu146Ala)
c.255+1658A>C (n.255+1658A>C)
c.337+345A>C (n.337+345A>C)
c.455A>C (p.Glu152Ala)
c.448+345A>C (n.448+345A>C)
c.461A>C (p.Glu154Ala)
c.407A>C (p.Glu136Ala)
c.485A>C (p.Glu162Ala)
15g.74893147A>GCA393174019MPIc.497A>G (p.Glu166Gly)
c.487+345A>G (n.487+345A>G)
c.347A>G (p.Glu116Gly)
c.*393A>G (n.*393A>G)
c.437A>G (p.Glu146Gly)
c.255+1658A>G (n.255+1658A>G)
c.337+345A>G (n.337+345A>G)
c.455A>G (p.Glu152Gly)
c.448+345A>G (n.448+345A>G)
c.461A>G (p.Glu154Gly)
c.407A>G (p.Glu136Gly)
c.485A>G (p.Glu162Gly)
15g.74893147A>TCA393174021MPIc.497A>T (p.Glu166Val)
c.487+345A>T (n.487+345A>T)
c.347A>T (p.Glu116Val)
c.*393A>T (n.*393A>T)
c.437A>T (p.Glu146Val)
c.255+1658A>T (n.255+1658A>T)
c.337+345A>T (n.337+345A>T)
c.455A>T (p.Glu152Val)
c.448+345A>T (n.448+345A>T)
c.461A>T (p.Glu154Val)
c.407A>T (p.Glu136Val)
c.485A>T (p.Glu162Val)
15g.74893148G>ACA491491258MPIc.498G>A (p.Glu166=)
c.487+346G>A (n.487+346G>A)
c.348G>A (p.Glu116=)
c.*394G>A (n.*394G>A)
c.438G>A (p.Glu146=)
c.255+1659G>A (n.255+1659G>A)
c.337+346G>A (n.337+346G>A)
c.456G>A (p.Glu152=)
c.448+346G>A (n.448+346G>A)
c.462G>A (p.Glu154=)
c.408G>A (p.Glu136=)
c.486G>A (p.Glu162=)
15g.74893148G>CCA393174023MPIc.498G>C (p.Glu166Asp)
c.487+346G>C (n.487+346G>C)
c.348G>C (p.Glu116Asp)
c.*394G>C (n.*394G>C)
c.438G>C (p.Glu146Asp)
c.255+1659G>C (n.255+1659G>C)
c.337+346G>C (n.337+346G>C)
c.456G>C (p.Glu152Asp)
c.448+346G>C (n.448+346G>C)
c.462G>C (p.Glu154Asp)
c.408G>C (p.Glu136Asp)
c.486G>C (p.Glu162Asp)
15g.74893148G>TCA393174025MPIc.498G>T (p.Glu166Asp)
c.487+346G>T (n.487+346G>T)
c.348G>T (p.Glu116Asp)
c.*394G>T (n.*394G>T)
c.438G>T (p.Glu146Asp)
c.255+1659G>T (n.255+1659G>T)
c.337+346G>T (n.337+346G>T)
c.456G>T (p.Glu152Asp)
c.448+346G>T (n.448+346G>T)
c.462G>T (p.Glu154Asp)
c.408G>T (p.Glu136Asp)
c.486G>T (p.Glu162Asp)
15g.74893149T>ACA393174032MPIc.499T>A (p.Phe167Ile)
c.487+347T>A (n.487+347T>A)
c.349T>A (p.Phe117Ile)
c.*395T>A (n.*395T>A)
c.439T>A (p.Phe147Ile)
c.255+1660T>A (n.255+1660T>A)
c.337+347T>A (n.337+347T>A)
c.457T>A (p.Phe153Ile)
c.448+347T>A (n.448+347T>A)
c.463T>A (p.Phe155Ile)
c.409T>A (p.Phe137Ile)
c.487T>A (p.Phe163Ile)
 dbSNP gnomAD v4
15g.74893149T>CCA393174034MPIc.499T>C (p.Phe167Leu)
c.487+347T>C (n.487+347T>C)
c.349T>C (p.Phe117Leu)
c.*395T>C (n.*395T>C)
c.439T>C (p.Phe147Leu)
c.255+1660T>C (n.255+1660T>C)
c.337+347T>C (n.337+347T>C)
c.457T>C (p.Phe153Leu)
c.448+347T>C (n.448+347T>C)
c.463T>C (p.Phe155Leu)
c.409T>C (p.Phe137Leu)
c.487T>C (p.Phe163Leu)
15g.74893149T>GCA393174038MPIc.499T>G (p.Phe167Val)
c.487+347T>G (n.487+347T>G)
c.349T>G (p.Phe117Val)
c.*395T>G (n.*395T>G)
c.439T>G (p.Phe147Val)
c.255+1660T>G (n.255+1660T>G)
c.337+347T>G (n.337+347T>G)
c.457T>G (p.Phe153Val)
c.448+347T>G (n.448+347T>G)
c.463T>G (p.Phe155Val)
c.409T>G (p.Phe137Val)
c.487T>G (p.Phe163Val)
15g.74893149T=CA2187897185MPIc.499T= (p.Phe167=)
c.487+347T= (n.487+347T=)
c.349T= (p.Phe117=)
c.*395T= (n.*395T=)
c.439T= (p.Phe147=)
c.255+1660T= (n.255+1660T=)
c.337+347T= (n.337+347T=)
c.457T= (p.Phe153=)
c.448+347T= (n.448+347T=)
c.463T= (p.Phe155=)
c.409T= (p.Phe137=)
c.487T= (p.Phe163=)
15g.74893150T>ACA393174041MPIc.500T>A (p.Phe167Tyr)
c.487+348T>A (n.487+348T>A)
c.350T>A (p.Phe117Tyr)
c.*396T>A (n.*396T>A)
c.440T>A (p.Phe147Tyr)
c.255+1661T>A (n.255+1661T>A)
c.337+348T>A (n.337+348T>A)
c.458T>A (p.Phe153Tyr)
c.448+348T>A (n.448+348T>A)
c.464T>A (p.Phe155Tyr)
c.410T>A (p.Phe137Tyr)
c.488T>A (p.Phe163Tyr)
15g.74893150T>CCA393174043MPIc.500T>C (p.Phe167Ser)
c.487+348T>C (n.487+348T>C)
c.350T>C (p.Phe117Ser)
c.*396T>C (n.*396T>C)
c.440T>C (p.Phe147Ser)
c.255+1661T>C (n.255+1661T>C)
c.337+348T>C (n.337+348T>C)
c.458T>C (p.Phe153Ser)
c.448+348T>C (n.448+348T>C)
c.464T>C (p.Phe155Ser)
c.410T>C (p.Phe137Ser)
c.488T>C (p.Phe163Ser)
15g.74893150T>GCA393174046MPIc.500T>G (p.Phe167Cys)
c.487+348T>G (n.487+348T>G)
c.350T>G (p.Phe117Cys)
c.*396T>G (n.*396T>G)
c.440T>G (p.Phe147Cys)
c.255+1661T>G (n.255+1661T>G)
c.337+348T>G (n.337+348T>G)
c.458T>G (p.Phe153Cys)
c.448+348T>G (n.448+348T>G)
c.464T>G (p.Phe155Cys)
c.410T>G (p.Phe137Cys)
c.488T>G (p.Phe163Cys)
15g.74893151T>ACA393174055MPIc.501T>A (p.Phe167Leu)
c.487+349T>A (n.487+349T>A)
c.351T>A (p.Phe117Leu)
c.*397T>A (n.*397T>A)
c.441T>A (p.Phe147Leu)
c.255+1662T>A (n.255+1662T>A)
c.337+349T>A (n.337+349T>A)
c.459T>A (p.Phe153Leu)
c.448+349T>A (n.448+349T>A)
c.465T>A (p.Phe155Leu)
c.411T>A (p.Phe137Leu)
c.489T>A (p.Phe163Leu)
15g.74893151T>CCA491491259MPIc.501T>C (p.Phe167=)
c.487+349T>C (n.487+349T>C)
c.351T>C (p.Phe117=)
c.*397T>C (n.*397T>C)
c.441T>C (p.Phe147=)
c.255+1662T>C (n.255+1662T>C)
c.337+349T>C (n.337+349T>C)
c.459T>C (p.Phe153=)
c.448+349T>C (n.448+349T>C)
c.465T>C (p.Phe155=)
c.411T>C (p.Phe137=)
c.489T>C (p.Phe163=)
15g.74893151T>GCA393174061MPIc.501T>G (p.Phe167Leu)
c.487+349T>G (n.487+349T>G)
c.351T>G (p.Phe117Leu)
c.*397T>G (n.*397T>G)
c.441T>G (p.Phe147Leu)
c.255+1662T>G (n.255+1662T>G)
c.337+349T>G (n.337+349T>G)
c.459T>G (p.Phe153Leu)
c.448+349T>G (n.448+349T>G)
c.465T>G (p.Phe155Leu)
c.411T>G (p.Phe137Leu)
c.489T>G (p.Phe163Leu)
15g.74893152C>ACA393174071MPIc.502C>A (p.Gln168Lys)
c.487+350C>A (n.487+350C>A)
c.352C>A (p.Gln118Lys)
c.*398C>A (n.*398C>A)
c.442C>A (p.Gln148Lys)
c.255+1663C>A (n.255+1663C>A)
c.337+350C>A (n.337+350C>A)
c.460C>A (p.Gln154Lys)
c.448+350C>A (n.448+350C>A)
c.466C>A (p.Gln156Lys)
c.412C>A (p.Gln138Lys)
c.490C>A (p.Gln164Lys)
15g.74893152C>GCA393174067MPIc.502C>G (p.Gln168Glu)
c.487+350C>G (n.487+350C>G)
c.352C>G (p.Gln118Glu)
c.*398C>G (n.*398C>G)
c.442C>G (p.Gln148Glu)
c.255+1663C>G (n.255+1663C>G)
c.337+350C>G (n.337+350C>G)
c.460C>G (p.Gln154Glu)
c.448+350C>G (n.448+350C>G)
c.466C>G (p.Gln156Glu)
c.412C>G (p.Gln138Glu)
c.490C>G (p.Gln164Glu)
15g.74893152C>TCA393174064MPIc.502C>T (p.Gln168Ter)
c.487+350C>T (n.487+350C>T)
c.352C>T (p.Gln118Ter)
c.*398C>T (n.*398C>T)
c.442C>T (p.Gln148Ter)
c.255+1663C>T (n.255+1663C>T)
c.337+350C>T (n.337+350C>T)
c.460C>T (p.Gln154Ter)
c.448+350C>T (n.448+350C>T)
c.466C>T (p.Gln156Ter)
c.412C>T (p.Gln138Ter)
c.490C>T (p.Gln164Ter)
15g.74893153A>CCA393174078MPIc.503A>C (p.Gln168Pro)
c.487+351A>C (n.487+351A>C)
c.353A>C (p.Gln118Pro)
c.*399A>C (n.*399A>C)
c.443A>C (p.Gln148Pro)
c.255+1664A>C (n.255+1664A>C)
c.337+351A>C (n.337+351A>C)
c.461A>C (p.Gln154Pro)
c.448+351A>C (n.448+351A>C)
c.467A>C (p.Gln156Pro)
c.413A>C (p.Gln138Pro)
c.491A>C (p.Gln164Pro)
15g.74893153A>GCA393174075MPIc.503A>G (p.Gln168Arg)
c.487+351A>G (n.487+351A>G)
c.353A>G (p.Gln118Arg)
c.*399A>G (n.*399A>G)
c.443A>G (p.Gln148Arg)
c.255+1664A>G (n.255+1664A>G)
c.337+351A>G (n.337+351A>G)
c.461A>G (p.Gln154Arg)
c.448+351A>G (n.448+351A>G)
c.467A>G (p.Gln156Arg)
c.413A>G (p.Gln138Arg)
c.491A>G (p.Gln164Arg)
15g.74893153A>TCA393174082MPIc.503A>T (p.Gln168Leu)
c.487+351A>T (n.487+351A>T)
c.353A>T (p.Gln118Leu)
c.*399A>T (n.*399A>T)
c.443A>T (p.Gln148Leu)
c.255+1664A>T (n.255+1664A>T)
c.337+351A>T (n.337+351A>T)
c.461A>T (p.Gln154Leu)
c.448+351A>T (n.448+351A>T)
c.467A>T (p.Gln156Leu)
c.413A>T (p.Gln138Leu)
c.491A>T (p.Gln164Leu)
15g.74893154G>ACA491491260MPIc.504G>A (p.Gln168=)
c.487+352G>A (n.487+352G>A)
c.354G>A (p.Gln118=)
c.*400G>A (n.*400G>A)
c.444G>A (p.Gln148=)
c.255+1665G>A (n.255+1665G>A)
c.337+352G>A (n.337+352G>A)
c.462G>A (p.Gln154=)
c.448+352G>A (n.448+352G>A)
c.468G>A (p.Gln156=)
c.414G>A (p.Gln138=)
c.492G>A (p.Gln164=)
15g.74893154G>CCA393174086MPIc.504G>C (p.Gln168His)
c.487+352G>C (n.487+352G>C)
c.354G>C (p.Gln118His)
c.*400G>C (n.*400G>C)
c.444G>C (p.Gln148His)
c.255+1665G>C (n.255+1665G>C)
c.337+352G>C (n.337+352G>C)
c.462G>C (p.Gln154His)
c.448+352G>C (n.448+352G>C)
c.468G>C (p.Gln156His)
c.414G>C (p.Gln138His)
c.492G>C (p.Gln164His)
15g.74893154G>TCA393174088MPIc.504G>T (p.Gln168His)
c.487+352G>T (n.487+352G>T)
c.354G>T (p.Gln118His)
c.*400G>T (n.*400G>T)
c.444G>T (p.Gln148His)
c.255+1665G>T (n.255+1665G>T)
c.337+352G>T (n.337+352G>T)
c.462G>T (p.Gln154His)
c.448+352G>T (n.448+352G>T)
c.468G>T (p.Gln156His)
c.414G>T (p.Gln138His)
c.492G>T (p.Gln164His)
15g.74893155T>ACA272823532MPIc.505T>A (p.Phe169Ile)
c.487+353T>A (n.487+353T>A)
c.355T>A (p.Phe119Ile)
c.*401T>A (n.*401T>A)
c.445T>A (p.Phe149Ile)
c.255+1666T>A (n.255+1666T>A)
c.337+353T>A (n.337+353T>A)
c.463T>A (p.Phe155Ile)
c.448+353T>A (n.448+353T>A)
c.469T>A (p.Phe157Ile)
c.415T>A (p.Phe139Ile)
c.493T>A (p.Phe165Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893155T>CCA393174093MPIc.505T>C (p.Phe169Leu)
c.487+353T>C (n.487+353T>C)
c.355T>C (p.Phe119Leu)
c.*401T>C (n.*401T>C)
c.445T>C (p.Phe149Leu)
c.255+1666T>C (n.255+1666T>C)
c.337+353T>C (n.337+353T>C)
c.463T>C (p.Phe155Leu)
c.448+353T>C (n.448+353T>C)
c.469T>C (p.Phe157Leu)
c.415T>C (p.Phe139Leu)
c.493T>C (p.Phe165Leu)
15g.74893155T>GCA393174096MPIc.505T>G (p.Phe169Val)
c.487+353T>G (n.487+353T>G)
c.355T>G (p.Phe119Val)
c.*401T>G (n.*401T>G)
c.445T>G (p.Phe149Val)
c.255+1666T>G (n.255+1666T>G)
c.337+353T>G (n.337+353T>G)
c.463T>G (p.Phe155Val)
c.448+353T>G (n.448+353T>G)
c.469T>G (p.Phe157Val)
c.415T>G (p.Phe139Val)
c.493T>G (p.Phe165Val)
15g.74893155T=CA2187897187MPIc.505T= (p.Phe169=)
c.487+353T= (n.487+353T=)
c.355T= (p.Phe119=)
c.*401T= (n.*401T=)
c.445T= (p.Phe149=)
c.255+1666T= (n.255+1666T=)
c.337+353T= (n.337+353T=)
c.463T= (p.Phe155=)
c.448+353T= (n.448+353T=)
c.469T= (p.Phe157=)
c.415T= (p.Phe139=)
c.493T= (p.Phe165=)
15g.74893156T>ACA393174099MPIc.506T>A (p.Phe169Tyr)
c.487+354T>A (n.487+354T>A)
c.356T>A (p.Phe119Tyr)
c.*402T>A (n.*402T>A)
c.446T>A (p.Phe149Tyr)
c.255+1667T>A (n.255+1667T>A)
c.337+354T>A (n.337+354T>A)
c.464T>A (p.Phe155Tyr)
c.448+354T>A (n.448+354T>A)
c.470T>A (p.Phe157Tyr)
c.416T>A (p.Phe139Tyr)
c.494T>A (p.Phe165Tyr)
15g.74893156T>CCA393174102MPIc.506T>C (p.Phe169Ser)
c.487+354T>C (n.487+354T>C)
c.356T>C (p.Phe119Ser)
c.*402T>C (n.*402T>C)
c.446T>C (p.Phe149Ser)
c.255+1667T>C (n.255+1667T>C)
c.337+354T>C (n.337+354T>C)
c.464T>C (p.Phe155Ser)
c.448+354T>C (n.448+354T>C)
c.470T>C (p.Phe157Ser)
c.416T>C (p.Phe139Ser)
c.494T>C (p.Phe165Ser)
15g.74893156T>GCA393174104MPIc.506T>G (p.Phe169Cys)
c.487+354T>G (n.487+354T>G)
c.356T>G (p.Phe119Cys)
c.*402T>G (n.*402T>G)
c.446T>G (p.Phe149Cys)
c.255+1667T>G (n.255+1667T>G)
c.337+354T>G (n.337+354T>G)
c.464T>G (p.Phe155Cys)
c.448+354T>G (n.448+354T>G)
c.470T>G (p.Phe157Cys)
c.416T>G (p.Phe139Cys)
c.494T>G (p.Phe165Cys)
15g.74893157C>ACA393174106MPIc.507C>A (p.Phe169Leu)
c.487+355C>A (n.487+355C>A)
c.357C>A (p.Phe119Leu)
c.*403C>A (n.*403C>A)
c.447C>A (p.Phe149Leu)
c.255+1668C>A (n.255+1668C>A)
c.337+355C>A (n.337+355C>A)
c.465C>A (p.Phe155Leu)
c.448+355C>A (n.448+355C>A)
c.471C>A (p.Phe157Leu)
c.417C>A (p.Phe139Leu)
c.495C>A (p.Phe165Leu)
15g.74893157C>GCA393174108MPIc.507C>G (p.Phe169Leu)
c.487+355C>G (n.487+355C>G)
c.357C>G (p.Phe119Leu)
c.*403C>G (n.*403C>G)
c.447C>G (p.Phe149Leu)
c.255+1668C>G (n.255+1668C>G)
c.337+355C>G (n.337+355C>G)
c.465C>G (p.Phe155Leu)
c.448+355C>G (n.448+355C>G)
c.471C>G (p.Phe157Leu)
c.417C>G (p.Phe139Leu)
c.495C>G (p.Phe165Leu)
15g.74893157C>TCA491491261MPIc.507C>T (p.Phe169=)
c.487+355C>T (n.487+355C>T)
c.357C>T (p.Phe119=)
c.*403C>T (n.*403C>T)
c.447C>T (p.Phe149=)
c.255+1668C>T (n.255+1668C>T)
c.337+355C>T (n.337+355C>T)
c.465C>T (p.Phe155=)
c.448+355C>T (n.448+355C>T)
c.471C>T (p.Phe157=)
c.417C>T (p.Phe139=)
c.495C>T (p.Phe165=)
 ClinVar
15g.74893158C>ACA393174113MPIc.508C>A (p.Leu170Met)
c.487+356C>A (n.487+356C>A)
c.358C>A (p.Leu120Met)
c.*404C>A (n.*404C>A)
c.448C>A (p.Leu150Met)
c.255+1669C>A (n.255+1669C>A)
c.337+356C>A (n.337+356C>A)
c.466C>A (p.Leu156Met)
c.448+356C>A (n.448+356C>A)
c.472C>A (p.Leu158Met)
c.418C>A (p.Leu140Met)
c.496C>A (p.Leu166Met)
15g.74893158C=CA2187897190MPIc.508C= (p.Leu170=)
c.487+356C= (n.487+356C=)
c.358C= (p.Leu120=)
c.*404C= (n.*404C=)
c.448C= (p.Leu150=)
c.255+1669C= (n.255+1669C=)
c.337+356C= (n.337+356C=)
c.466C= (p.Leu156=)
c.448+356C= (n.448+356C=)
c.472C= (p.Leu158=)
c.418C= (p.Leu140=)
c.496C= (p.Leu166=)
15g.74893158C>GCA393174115MPIc.508C>G (p.Leu170Val)
c.487+356C>G (n.487+356C>G)
c.358C>G (p.Leu120Val)
c.*404C>G (n.*404C>G)
c.448C>G (p.Leu150Val)
c.255+1669C>G (n.255+1669C>G)
c.337+356C>G (n.337+356C>G)
c.466C>G (p.Leu156Val)
c.448+356C>G (n.448+356C>G)
c.472C>G (p.Leu158Val)
c.418C>G (p.Leu140Val)
c.496C>G (p.Leu166Val)
15g.74893158C>TCA491491262MPIc.508C>T (p.Leu170=)
c.487+356C>T (n.487+356C>T)
c.358C>T (p.Leu120=)
c.*404C>T (n.*404C>T)
c.448C>T (p.Leu150=)
c.255+1669C>T (n.255+1669C>T)
c.337+356C>T (n.337+356C>T)
c.466C>T (p.Leu156=)
c.448+356C>T (n.448+356C>T)
c.472C>T (p.Leu158=)
c.418C>T (p.Leu140=)
c.496C>T (p.Leu166=)
 dbSNP
15g.74893159T>ACA393174118MPIc.509T>A (p.Leu170Gln)
c.487+357T>A (n.487+357T>A)
c.359T>A (p.Leu120Gln)
c.*405T>A (n.*405T>A)
c.449T>A (p.Leu150Gln)
c.255+1670T>A (n.255+1670T>A)
c.337+357T>A (n.337+357T>A)
c.467T>A (p.Leu156Gln)
c.448+357T>A (n.448+357T>A)
c.473T>A (p.Leu158Gln)
c.419T>A (p.Leu140Gln)
c.497T>A (p.Leu166Gln)
15g.74893159T>CCA393174123MPIc.509T>C (p.Leu170Pro)
c.487+357T>C (n.487+357T>C)
c.359T>C (p.Leu120Pro)
c.*405T>C (n.*405T>C)
c.449T>C (p.Leu150Pro)
c.255+1670T>C (n.255+1670T>C)
c.337+357T>C (n.337+357T>C)
c.467T>C (p.Leu156Pro)
c.448+357T>C (n.448+357T>C)
c.473T>C (p.Leu158Pro)
c.419T>C (p.Leu140Pro)
c.497T>C (p.Leu166Pro)
15g.74893159T>GCA393174126MPIc.509T>G (p.Leu170Arg)
c.487+357T>G (n.487+357T>G)
c.359T>G (p.Leu120Arg)
c.*405T>G (n.*405T>G)
c.449T>G (p.Leu150Arg)
c.255+1670T>G (n.255+1670T>G)
c.337+357T>G (n.337+357T>G)
c.467T>G (p.Leu156Arg)
c.448+357T>G (n.448+357T>G)
c.473T>G (p.Leu158Arg)
c.419T>G (p.Leu140Arg)
c.497T>G (p.Leu166Arg)
15g.74893160G>ACA491491263MPIc.510G>A (p.Leu170=)
c.487+358G>A (n.487+358G>A)
c.360G>A (p.Leu120=)
c.*406G>A (n.*406G>A)
c.450G>A (p.Leu150=)
c.255+1671G>A (n.255+1671G>A)
c.337+358G>A (n.337+358G>A)
c.468G>A (p.Leu156=)
c.448+358G>A (n.448+358G>A)
c.474G>A (p.Leu158=)
c.420G>A (p.Leu140=)
c.498G>A (p.Leu166=)
15g.74893160G>CCA491491264MPIc.510G>C (p.Leu170=)
c.487+358G>C (n.487+358G>C)
c.360G>C (p.Leu120=)
c.*406G>C (n.*406G>C)
c.450G>C (p.Leu150=)
c.255+1671G>C (n.255+1671G>C)
c.337+358G>C (n.337+358G>C)
c.468G>C (p.Leu156=)
c.448+358G>C (n.448+358G>C)
c.474G>C (p.Leu158=)
c.420G>C (p.Leu140=)
c.498G>C (p.Leu166=)
15g.74893160G>TCA491491265MPIc.510G>T (p.Leu170=)
c.487+358G>T (n.487+358G>T)
c.360G>T (p.Leu120=)
c.*406G>T (n.*406G>T)
c.450G>T (p.Leu150=)
c.255+1671G>T (n.255+1671G>T)
c.337+358G>T (n.337+358G>T)
c.468G>T (p.Leu156=)
c.448+358G>T (n.448+358G>T)
c.474G>T (p.Leu158=)
c.420G>T (p.Leu140=)
c.498G>T (p.Leu166=)
15g.74893161A=CA2187897192MPIc.511A= (p.Ile171=)
c.487+359A= (n.487+359A=)
c.361A= (p.Ile121=)
c.*407A= (n.*407A=)
c.451A= (p.Ile151=)
c.255+1672A= (n.255+1672A=)
c.337+359A= (n.337+359A=)
c.469A= (p.Ile157=)
c.448+359A= (n.448+359A=)
c.475A= (p.Ile159=)
c.421A= (p.Ile141=)
c.499A= (p.Ile167=)
15g.74893161A>CCA393174128MPIc.511A>C (p.Ile171Leu)
c.487+359A>C (n.487+359A>C)
c.361A>C (p.Ile121Leu)
c.*407A>C (n.*407A>C)
c.451A>C (p.Ile151Leu)
c.255+1672A>C (n.255+1672A>C)
c.337+359A>C (n.337+359A>C)
c.469A>C (p.Ile157Leu)
c.448+359A>C (n.448+359A>C)
c.475A>C (p.Ile159Leu)
c.421A>C (p.Ile141Leu)
c.499A>C (p.Ile167Leu)
 dbSNP gnomAD v3 gnomAD v4
15g.74893161A>GCA393174132MPIc.511A>G (p.Ile171Val)
c.487+359A>G (n.487+359A>G)
c.361A>G (p.Ile121Val)
c.*407A>G (n.*407A>G)
c.451A>G (p.Ile151Val)
c.255+1672A>G (n.255+1672A>G)
c.337+359A>G (n.337+359A>G)
c.469A>G (p.Ile157Val)
c.448+359A>G (n.448+359A>G)
c.475A>G (p.Ile159Val)
c.421A>G (p.Ile141Val)
c.499A>G (p.Ile167Val)
15g.74893161A>TCA393174131MPIc.511A>T (p.Ile171Phe)
c.487+359A>T (n.487+359A>T)
c.361A>T (p.Ile121Phe)
c.*407A>T (n.*407A>T)
c.451A>T (p.Ile151Phe)
c.255+1672A>T (n.255+1672A>T)
c.337+359A>T (n.337+359A>T)
c.469A>T (p.Ile157Phe)
c.448+359A>T (n.448+359A>T)
c.475A>T (p.Ile159Phe)
c.421A>T (p.Ile141Phe)
c.499A>T (p.Ile167Phe)
15g.74893162T>ACA393174133MPIc.512T>A (p.Ile171Asn)
c.487+360T>A (n.487+360T>A)
c.362T>A (p.Ile121Asn)
c.*408T>A (n.*408T>A)
c.452T>A (p.Ile151Asn)
c.255+1673T>A (n.255+1673T>A)
c.337+360T>A (n.337+360T>A)
c.470T>A (p.Ile157Asn)
c.448+360T>A (n.448+360T>A)
c.476T>A (p.Ile159Asn)
c.422T>A (p.Ile141Asn)
c.500T>A (p.Ile167Asn)
15g.74893162T>CCA393174134MPIc.512T>C (p.Ile171Thr)
c.487+360T>C (n.487+360T>C)
c.362T>C (p.Ile121Thr)
c.*408T>C (n.*408T>C)
c.452T>C (p.Ile151Thr)
c.255+1673T>C (n.255+1673T>C)
c.337+360T>C (n.337+360T>C)
c.470T>C (p.Ile157Thr)
c.448+360T>C (n.448+360T>C)
c.476T>C (p.Ile159Thr)
c.422T>C (p.Ile141Thr)
c.500T>C (p.Ile167Thr)
 dbSNP gnomAD v2 gnomAD v4
15g.74893162T>GCA393174136MPIc.512T>G (p.Ile171Ser)
c.487+360T>G (n.487+360T>G)
c.362T>G (p.Ile121Ser)
c.*408T>G (n.*408T>G)
c.452T>G (p.Ile151Ser)
c.255+1673T>G (n.255+1673T>G)
c.337+360T>G (n.337+360T>G)
c.470T>G (p.Ile157Ser)
c.448+360T>G (n.448+360T>G)
c.476T>G (p.Ile159Ser)
c.422T>G (p.Ile141Ser)
c.500T>G (p.Ile167Ser)
15g.74893162T=CA2187897197MPIc.512T= (p.Ile171=)
c.487+360T= (n.487+360T=)
c.362T= (p.Ile121=)
c.*408T= (n.*408T=)
c.452T= (p.Ile151=)
c.255+1673T= (n.255+1673T=)
c.337+360T= (n.337+360T=)
c.470T= (p.Ile157=)
c.448+360T= (n.448+360T=)
c.476T= (p.Ile159=)
c.422T= (p.Ile141=)
c.500T= (p.Ile167=)
15g.74893163T>ACA491491266MPIc.513T>A (p.Ile171=)
c.487+361T>A (n.487+361T>A)
c.363T>A (p.Ile121=)
c.*409T>A (n.*409T>A)
c.453T>A (p.Ile151=)
c.255+1674T>A (n.255+1674T>A)
c.337+361T>A (n.337+361T>A)
c.471T>A (p.Ile157=)
c.448+361T>A (n.448+361T>A)
c.477T>A (p.Ile159=)
c.423T>A (p.Ile141=)
c.501T>A (p.Ile167=)
15g.74893163T>CCA491491267MPIc.513T>C (p.Ile171=)
c.487+361T>C (n.487+361T>C)
c.363T>C (p.Ile121=)
c.*409T>C (n.*409T>C)
c.453T>C (p.Ile151=)
c.255+1674T>C (n.255+1674T>C)
c.337+361T>C (n.337+361T>C)
c.471T>C (p.Ile157=)
c.448+361T>C (n.448+361T>C)
c.477T>C (p.Ile159=)
c.423T>C (p.Ile141=)
c.501T>C (p.Ile167=)
15g.74893163T>GCA393174138MPIc.513T>G (p.Ile171Met)
c.487+361T>G (n.487+361T>G)
c.363T>G (p.Ile121Met)
c.*409T>G (n.*409T>G)
c.453T>G (p.Ile151Met)
c.255+1674T>G (n.255+1674T>G)
c.337+361T>G (n.337+361T>G)
c.471T>G (p.Ile157Met)
c.448+361T>G (n.448+361T>G)
c.477T>G (p.Ile159Met)
c.423T>G (p.Ile141Met)
c.501T>G (p.Ile167Met)
15g.74893164G>ACA393174142MPIc.514G>A (p.Gly172Arg)
c.487+362G>A (n.487+362G>A)
c.364G>A (p.Gly122Arg)
c.*410G>A (n.*410G>A)
c.454G>A (p.Gly152Arg)
c.255+1675G>A (n.255+1675G>A)
c.337+362G>A (n.337+362G>A)
c.472G>A (p.Gly158Arg)
c.448+362G>A (n.448+362G>A)
c.478G>A (p.Gly160Arg)
c.424G>A (p.Gly142Arg)
c.502G>A (p.Gly168Arg)
 gnomAD v4
15g.74893164G>CCA393174146MPIc.514G>C (p.Gly172Arg)
c.487+362G>C (n.487+362G>C)
c.364G>C (p.Gly122Arg)
c.*410G>C (n.*410G>C)
c.454G>C (p.Gly152Arg)
c.255+1675G>C (n.255+1675G>C)
c.337+362G>C (n.337+362G>C)
c.472G>C (p.Gly158Arg)
c.448+362G>C (n.448+362G>C)
c.478G>C (p.Gly160Arg)
c.424G>C (p.Gly142Arg)
c.502G>C (p.Gly168Arg)
15g.74893164G>TCA393174149MPIc.514G>T (p.Gly172Ter)
c.487+362G>T (n.487+362G>T)
c.364G>T (p.Gly122Ter)
c.*410G>T (n.*410G>T)
c.454G>T (p.Gly152Ter)
c.255+1675G>T (n.255+1675G>T)
c.337+362G>T (n.337+362G>T)
c.472G>T (p.Gly158Ter)
c.448+362G>T (n.448+362G>T)
c.478G>T (p.Gly160Ter)
c.424G>T (p.Gly142Ter)
c.502G>T (p.Gly168Ter)
15g.74893165G>ACA393174152MPIc.515G>A (p.Gly172Glu)
c.487+363G>A (n.487+363G>A)
c.365G>A (p.Gly122Glu)
c.*411G>A (n.*411G>A)
c.455G>A (p.Gly152Glu)
c.255+1676G>A (n.255+1676G>A)
c.337+363G>A (n.337+363G>A)
c.473G>A (p.Gly158Glu)
c.448+363G>A (n.448+363G>A)
c.479G>A (p.Gly160Glu)
c.425G>A (p.Gly142Glu)
c.503G>A (p.Gly168Glu)
15g.74893165G>CCA393174153MPIc.515G>C (p.Gly172Ala)
c.487+363G>C (n.487+363G>C)
c.365G>C (p.Gly122Ala)
c.*411G>C (n.*411G>C)
c.455G>C (p.Gly152Ala)
c.255+1676G>C (n.255+1676G>C)
c.337+363G>C (n.337+363G>C)
c.473G>C (p.Gly158Ala)
c.448+363G>C (n.448+363G>C)
c.479G>C (p.Gly160Ala)
c.425G>C (p.Gly142Ala)
c.503G>C (p.Gly168Ala)
15g.74893165G=CA2187897200MPIc.515G= (p.Gly172=)
c.487+363G= (n.487+363G=)
c.365G= (p.Gly122=)
c.*411G= (n.*411G=)
c.455G= (p.Gly152=)
c.255+1676G= (n.255+1676G=)
c.337+363G= (n.337+363G=)
c.473G= (p.Gly158=)
c.448+363G= (n.448+363G=)
c.479G= (p.Gly160=)
c.425G= (p.Gly142=)
c.503G= (p.Gly168=)
15g.74893165G>TCA393174154MPIc.515G>T (p.Gly172Val)
c.487+363G>T (n.487+363G>T)
c.365G>T (p.Gly122Val)
c.*411G>T (n.*411G>T)
c.455G>T (p.Gly152Val)
c.255+1676G>T (n.255+1676G>T)
c.337+363G>T (n.337+363G>T)
c.473G>T (p.Gly158Val)
c.448+363G>T (n.448+363G>T)
c.479G>T (p.Gly160Val)
c.425G>T (p.Gly142Val)
c.503G>T (p.Gly168Val)
 dbSNP gnomAD v2 gnomAD v4
15g.74893166A>CCA491491268MPIc.516A>C (p.Gly172=)
c.487+364A>C (n.487+364A>C)
c.366A>C (p.Gly122=)
c.*412A>C (n.*412A>C)
c.456A>C (p.Gly152=)
c.255+1677A>C (n.255+1677A>C)
c.337+364A>C (n.337+364A>C)
c.474A>C (p.Gly158=)
c.448+364A>C (n.448+364A>C)
c.480A>C (p.Gly160=)
c.426A>C (p.Gly142=)
c.504A>C (p.Gly168=)
15g.74893166A>GCA491491269MPIc.516A>G (p.Gly172=)
c.487+364A>G (n.487+364A>G)
c.366A>G (p.Gly122=)
c.*412A>G (n.*412A>G)
c.456A>G (p.Gly152=)
c.255+1677A>G (n.255+1677A>G)
c.337+364A>G (n.337+364A>G)
c.474A>G (p.Gly158=)
c.448+364A>G (n.448+364A>G)
c.480A>G (p.Gly160=)
c.426A>G (p.Gly142=)
c.504A>G (p.Gly168=)
15g.74893166A>TCA491491270MPIc.516A>T (p.Gly172=)
c.487+364A>T (n.487+364A>T)
c.366A>T (p.Gly122=)
c.*412A>T (n.*412A>T)
c.456A>T (p.Gly152=)
c.255+1677A>T (n.255+1677A>T)
c.337+364A>T (n.337+364A>T)
c.474A>T (p.Gly158=)
c.448+364A>T (n.448+364A>T)
c.480A>T (p.Gly160=)
c.426A>T (p.Gly142=)
c.504A>T (p.Gly168=)
15g.74893167G>ACA7662460MPIc.517G>A (p.Asp173Asn)
c.487+365G>A (n.487+365G>A)
c.367G>A (p.Asp123Asn)
c.*413G>A (n.*413G>A)
c.457G>A (p.Asp153Asn)
c.255+1678G>A (n.255+1678G>A)
c.337+365G>A (n.337+365G>A)
c.475G>A (p.Asp159Asn)
c.448+365G>A (n.448+365G>A)
c.481G>A (p.Asp161Asn)
c.427G>A (p.Asp143Asn)
c.505G>A (p.Asp169Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893167G>CCA393174161MPIc.517G>C (p.Asp173His)
c.487+365G>C (n.487+365G>C)
c.367G>C (p.Asp123His)
c.*413G>C (n.*413G>C)
c.457G>C (p.Asp153His)
c.255+1678G>C (n.255+1678G>C)
c.337+365G>C (n.337+365G>C)
c.475G>C (p.Asp159His)
c.448+365G>C (n.448+365G>C)
c.481G>C (p.Asp161His)
c.427G>C (p.Asp143His)
c.505G>C (p.Asp169His)
15g.74893167G=CA2187897202MPIc.517G= (p.Asp173=)
c.487+365G= (n.487+365G=)
c.367G= (p.Asp123=)
c.*413G= (n.*413G=)
c.457G= (p.Asp153=)
c.255+1678G= (n.255+1678G=)
c.337+365G= (n.337+365G=)
c.475G= (p.Asp159=)
c.448+365G= (n.448+365G=)
c.481G= (p.Asp161=)
c.427G= (p.Asp143=)
c.505G= (p.Asp169=)
15g.74893167G>TCA393174155MPIc.517G>T (p.Asp173Tyr)
c.487+365G>T (n.487+365G>T)
c.367G>T (p.Asp123Tyr)
c.*413G>T (n.*413G>T)
c.457G>T (p.Asp153Tyr)
c.255+1678G>T (n.255+1678G>T)
c.337+365G>T (n.337+365G>T)
c.475G>T (p.Asp159Tyr)
c.448+365G>T (n.448+365G>T)
c.481G>T (p.Asp161Tyr)
c.427G>T (p.Asp143Tyr)
c.505G>T (p.Asp169Tyr)
 gnomAD v4
15g.74893168A>CCA393174163MPIc.518A>C (p.Asp173Ala)
c.487+366A>C (n.487+366A>C)
c.368A>C (p.Asp123Ala)
c.*414A>C (n.*414A>C)
c.458A>C (p.Asp153Ala)
c.255+1679A>C (n.255+1679A>C)
c.337+366A>C (n.337+366A>C)
c.476A>C (p.Asp159Ala)
c.448+366A>C (n.448+366A>C)
c.482A>C (p.Asp161Ala)
c.428A>C (p.Asp143Ala)
c.506A>C (p.Asp169Ala)
15g.74893168A>GCA393174164MPIc.518A>G (p.Asp173Gly)
c.487+366A>G (n.487+366A>G)
c.368A>G (p.Asp123Gly)
c.*414A>G (n.*414A>G)
c.458A>G (p.Asp153Gly)
c.255+1679A>G (n.255+1679A>G)
c.337+366A>G (n.337+366A>G)
c.476A>G (p.Asp159Gly)
c.448+366A>G (n.448+366A>G)
c.482A>G (p.Asp161Gly)
c.428A>G (p.Asp143Gly)
c.506A>G (p.Asp169Gly)
15g.74893168A>TCA393174170MPIc.518A>T (p.Asp173Val)
c.487+366A>T (n.487+366A>T)
c.368A>T (p.Asp123Val)
c.*414A>T (n.*414A>T)
c.458A>T (p.Asp153Val)
c.255+1679A>T (n.255+1679A>T)
c.337+366A>T (n.337+366A>T)
c.476A>T (p.Asp159Val)
c.448+366A>T (n.448+366A>T)
c.482A>T (p.Asp161Val)
c.428A>T (p.Asp143Val)
c.506A>T (p.Asp169Val)
15g.74893169T>ACA393174173MPIc.519T>A (p.Asp173Glu)
c.487+367T>A (n.487+367T>A)
c.369T>A (p.Asp123Glu)
c.*415T>A (n.*415T>A)
c.459T>A (p.Asp153Glu)
c.255+1680T>A (n.255+1680T>A)
c.337+367T>A (n.337+367T>A)
c.477T>A (p.Asp159Glu)
c.448+367T>A (n.448+367T>A)
c.483T>A (p.Asp161Glu)
c.429T>A (p.Asp143Glu)
c.507T>A (p.Asp169Glu)
15g.74893169T>CCA491491271MPIc.519T>C (p.Asp173=)
c.487+367T>C (n.487+367T>C)
c.369T>C (p.Asp123=)
c.*415T>C (n.*415T>C)
c.459T>C (p.Asp153=)
c.255+1680T>C (n.255+1680T>C)
c.337+367T>C (n.337+367T>C)
c.477T>C (p.Asp159=)
c.448+367T>C (n.448+367T>C)
c.483T>C (p.Asp161=)
c.429T>C (p.Asp143=)
c.507T>C (p.Asp169=)
 dbSNP
15g.74893169T>GCA393174174MPIc.519T>G (p.Asp173Glu)
c.487+367T>G (n.487+367T>G)
c.369T>G (p.Asp123Glu)
c.*415T>G (n.*415T>G)
c.459T>G (p.Asp153Glu)
c.255+1680T>G (n.255+1680T>G)
c.337+367T>G (n.337+367T>G)
c.477T>G (p.Asp159Glu)
c.448+367T>G (n.448+367T>G)
c.483T>G (p.Asp161Glu)
c.429T>G (p.Asp143Glu)
c.507T>G (p.Asp169Glu)
15g.74893169T=CA2187897204MPIc.519T= (p.Asp173=)
c.487+367T= (n.487+367T=)
c.369T= (p.Asp123=)
c.*415T= (n.*415T=)
c.459T= (p.Asp153=)
c.255+1680T= (n.255+1680T=)
c.337+367T= (n.337+367T=)
c.477T= (p.Asp159=)
c.448+367T= (n.448+367T=)
c.483T= (p.Asp161=)
c.429T= (p.Asp143=)
c.507T= (p.Asp169=)
15g.74893170G>ACA393174184MPIc.520G>A (p.Glu174Lys)
c.487+368G>A (n.487+368G>A)
c.370G>A (p.Glu124Lys)
c.*416G>A (n.*416G>A)
c.460G>A (p.Glu154Lys)
c.255+1681G>A (n.255+1681G>A)
c.337+368G>A (n.337+368G>A)
c.478G>A (p.Glu160Lys)
c.448+368G>A (n.448+368G>A)
c.484G>A (p.Glu162Lys)
c.430G>A (p.Glu144Lys)
c.508G>A (p.Glu170Lys)
 dbSNP gnomAD v2 gnomAD v4
15g.74893170G>CCA393174186MPIc.520G>C (p.Glu174Gln)
c.487+368G>C (n.487+368G>C)
c.370G>C (p.Glu124Gln)
c.*416G>C (n.*416G>C)
c.460G>C (p.Glu154Gln)
c.255+1681G>C (n.255+1681G>C)
c.337+368G>C (n.337+368G>C)
c.478G>C (p.Glu160Gln)
c.448+368G>C (n.448+368G>C)
c.484G>C (p.Glu162Gln)
c.430G>C (p.Glu144Gln)
c.508G>C (p.Glu170Gln)
15g.74893170G=CA2187897207MPIc.520G= (p.Glu174=)
c.487+368G= (n.487+368G=)
c.370G= (p.Glu124=)
c.*416G= (n.*416G=)
c.460G= (p.Glu154=)
c.255+1681G= (n.255+1681G=)
c.337+368G= (n.337+368G=)
c.478G= (p.Glu160=)
c.448+368G= (n.448+368G=)
c.484G= (p.Glu162=)
c.430G= (p.Glu144=)
c.508G= (p.Glu170=)
15g.74893170G>TCA393174190MPIc.520G>T (p.Glu174Ter)
c.487+368G>T (n.487+368G>T)
c.370G>T (p.Glu124Ter)
c.*416G>T (n.*416G>T)
c.460G>T (p.Glu154Ter)
c.255+1681G>T (n.255+1681G>T)
c.337+368G>T (n.337+368G>T)
c.478G>T (p.Glu160Ter)
c.448+368G>T (n.448+368G>T)
c.484G>T (p.Glu162Ter)
c.430G>T (p.Glu144Ter)
c.508G>T (p.Glu170Ter)
15g.74893171A>CCA393174193MPIc.521A>C (p.Glu174Ala)
c.487+369A>C (n.487+369A>C)
c.371A>C (p.Glu124Ala)
c.*417A>C (n.*417A>C)
c.461A>C (p.Glu154Ala)
c.255+1682A>C (n.255+1682A>C)
c.337+369A>C (n.337+369A>C)
c.479A>C (p.Glu160Ala)
c.448+369A>C (n.448+369A>C)
c.485A>C (p.Glu162Ala)
c.431A>C (p.Glu144Ala)
c.509A>C (p.Glu170Ala)
15g.74893171A>GCA393174194MPIc.521A>G (p.Glu174Gly)
c.487+369A>G (n.487+369A>G)
c.371A>G (p.Glu124Gly)
c.*417A>G (n.*417A>G)
c.461A>G (p.Glu154Gly)
c.255+1682A>G (n.255+1682A>G)
c.337+369A>G (n.337+369A>G)
c.479A>G (p.Glu160Gly)
c.448+369A>G (n.448+369A>G)
c.485A>G (p.Glu162Gly)
c.431A>G (p.Glu144Gly)
c.509A>G (p.Glu170Gly)
15g.74893171A>TCA393174195MPIc.521A>T (p.Glu174Val)
c.487+369A>T (n.487+369A>T)
c.371A>T (p.Glu124Val)
c.*417A>T (n.*417A>T)
c.461A>T (p.Glu154Val)
c.255+1682A>T (n.255+1682A>T)
c.337+369A>T (n.337+369A>T)
c.479A>T (p.Glu160Val)
c.448+369A>T (n.448+369A>T)
c.485A>T (p.Glu162Val)
c.431A>T (p.Glu144Val)
c.509A>T (p.Glu170Val)
15g.74893172G>ACA491491272MPIc.522G>A (p.Glu174=)
c.487+370G>A (n.487+370G>A)
c.372G>A (p.Glu124=)
c.*418G>A (n.*418G>A)
c.462G>A (p.Glu154=)
c.255+1683G>A (n.255+1683G>A)
c.337+370G>A (n.337+370G>A)
c.480G>A (p.Glu160=)
c.448+370G>A (n.448+370G>A)
c.486G>A (p.Glu162=)
c.432G>A (p.Glu144=)
c.510G>A (p.Glu170=)
15g.74893172G>CCA393174196MPIc.522G>C (p.Glu174Asp)
c.487+370G>C (n.487+370G>C)
c.372G>C (p.Glu124Asp)
c.*418G>C (n.*418G>C)
c.462G>C (p.Glu154Asp)
c.255+1683G>C (n.255+1683G>C)
c.337+370G>C (n.337+370G>C)
c.480G>C (p.Glu160Asp)
c.448+370G>C (n.448+370G>C)
c.486G>C (p.Glu162Asp)
c.432G>C (p.Glu144Asp)
c.510G>C (p.Glu170Asp)
15g.74893172G>TCA393174197MPIc.522G>T (p.Glu174Asp)
c.487+370G>T (n.487+370G>T)
c.372G>T (p.Glu124Asp)
c.*418G>T (n.*418G>T)
c.462G>T (p.Glu154Asp)
c.255+1683G>T (n.255+1683G>T)
c.337+370G>T (n.337+370G>T)
c.480G>T (p.Glu160Asp)
c.448+370G>T (n.448+370G>T)
c.486G>T (p.Glu162Asp)
c.432G>T (p.Glu144Asp)
c.510G>T (p.Glu170Asp)
15g.74893173G>ACA393174207MPIc.523G>A (p.Ala175Thr)
c.487+371G>A (n.487+371G>A)
c.373G>A (p.Ala125Thr)
c.*419G>A (n.*419G>A)
c.463G>A (p.Ala155Thr)
c.255+1684G>A (n.255+1684G>A)
c.337+371G>A (n.337+371G>A)
c.481G>A (p.Ala161Thr)
c.448+371G>A (n.448+371G>A)
c.487G>A (p.Ala163Thr)
c.433G>A (p.Ala145Thr)
c.511G>A (p.Ala171Thr)
15g.74893173G>CCA393174199MPIc.523G>C (p.Ala175Pro)
c.487+371G>C (n.487+371G>C)
c.373G>C (p.Ala125Pro)
c.*419G>C (n.*419G>C)
c.463G>C (p.Ala155Pro)
c.255+1684G>C (n.255+1684G>C)
c.337+371G>C (n.337+371G>C)
c.481G>C (p.Ala161Pro)
c.448+371G>C (n.448+371G>C)
c.487G>C (p.Ala163Pro)
c.433G>C (p.Ala145Pro)
c.511G>C (p.Ala171Pro)
15g.74893173G>TCA393174198MPIc.523G>T (p.Ala175Ser)
c.487+371G>T (n.487+371G>T)
c.373G>T (p.Ala125Ser)
c.*419G>T (n.*419G>T)
c.463G>T (p.Ala155Ser)
c.255+1684G>T (n.255+1684G>T)
c.337+371G>T (n.337+371G>T)
c.481G>T (p.Ala161Ser)
c.448+371G>T (n.448+371G>T)
c.487G>T (p.Ala163Ser)
c.433G>T (p.Ala145Ser)
c.511G>T (p.Ala171Ser)
15g.74893174C>ACA393174209MPIc.524C>A (p.Ala175Glu)
c.487+372C>A (n.487+372C>A)
c.374C>A (p.Ala125Glu)
c.*420C>A (n.*420C>A)
c.464C>A (p.Ala155Glu)
c.255+1685C>A (n.255+1685C>A)
c.337+372C>A (n.337+372C>A)
c.482C>A (p.Ala161Glu)
c.448+372C>A (n.448+372C>A)
c.488C>A (p.Ala163Glu)
c.434C>A (p.Ala145Glu)
c.512C>A (p.Ala171Glu)
15g.74893174C>GCA393174211MPIc.524C>G (p.Ala175Gly)
c.487+372C>G (n.487+372C>G)
c.374C>G (p.Ala125Gly)
c.*420C>G (n.*420C>G)
c.464C>G (p.Ala155Gly)
c.255+1685C>G (n.255+1685C>G)
c.337+372C>G (n.337+372C>G)
c.482C>G (p.Ala161Gly)
c.448+372C>G (n.448+372C>G)
c.488C>G (p.Ala163Gly)
c.434C>G (p.Ala145Gly)
c.512C>G (p.Ala171Gly)
15g.74893174C>TCA393174214MPIc.524C>T (p.Ala175Val)
c.487+372C>T (n.487+372C>T)
c.374C>T (p.Ala125Val)
c.*420C>T (n.*420C>T)
c.464C>T (p.Ala155Val)
c.255+1685C>T (n.255+1685C>T)
c.337+372C>T (n.337+372C>T)
c.482C>T (p.Ala161Val)
c.448+372C>T (n.448+372C>T)
c.488C>T (p.Ala163Val)
c.434C>T (p.Ala145Val)
c.512C>T (p.Ala171Val)
15g.74893175A>CCA491491273MPIc.525A>C (p.Ala175=)
c.487+373A>C (n.487+373A>C)
c.375A>C (p.Ala125=)
c.*421A>C (n.*421A>C)
c.465A>C (p.Ala155=)
c.255+1686A>C (n.255+1686A>C)
c.337+373A>C (n.337+373A>C)
c.483A>C (p.Ala161=)
c.448+373A>C (n.448+373A>C)
c.489A>C (p.Ala163=)
c.435A>C (p.Ala145=)
c.513A>C (p.Ala171=)
15g.74893175A>GCA491491274MPIc.525A>G (p.Ala175=)
c.487+373A>G (n.487+373A>G)
c.375A>G (p.Ala125=)
c.*421A>G (n.*421A>G)
c.465A>G (p.Ala155=)
c.255+1686A>G (n.255+1686A>G)
c.337+373A>G (n.337+373A>G)
c.483A>G (p.Ala161=)
c.448+373A>G (n.448+373A>G)
c.489A>G (p.Ala163=)
c.435A>G (p.Ala145=)
c.513A>G (p.Ala171=)
15g.74893175A>TCA491491275MPIc.525A>T (p.Ala175=)
c.487+373A>T (n.487+373A>T)
c.375A>T (p.Ala125=)
c.*421A>T (n.*421A>T)
c.465A>T (p.Ala155=)
c.255+1686A>T (n.255+1686A>T)
c.337+373A>T (n.337+373A>T)
c.483A>T (p.Ala161=)
c.448+373A>T (n.448+373A>T)
c.489A>T (p.Ala163=)
c.435A>T (p.Ala145=)
c.513A>T (p.Ala171=)
15g.74893176G>ACA393174217MPIc.526G>A (p.Ala176Thr)
c.487+374G>A (n.487+374G>A)
c.376G>A (p.Ala126Thr)
c.*422G>A (n.*422G>A)
c.466G>A (p.Ala156Thr)
c.255+1687G>A (n.255+1687G>A)
c.337+374G>A (n.337+374G>A)
c.484G>A (p.Ala162Thr)
c.448+374G>A (n.448+374G>A)
c.490G>A (p.Ala164Thr)
c.436G>A (p.Ala146Thr)
c.514G>A (p.Ala172Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.74893176G>CCA393174220MPIc.526G>C (p.Ala176Pro)
c.487+374G>C (n.487+374G>C)
c.376G>C (p.Ala126Pro)
c.*422G>C (n.*422G>C)
c.466G>C (p.Ala156Pro)
c.255+1687G>C (n.255+1687G>C)
c.337+374G>C (n.337+374G>C)
c.484G>C (p.Ala162Pro)
c.448+374G>C (n.448+374G>C)
c.490G>C (p.Ala164Pro)
c.436G>C (p.Ala146Pro)
c.514G>C (p.Ala172Pro)
15g.74893176G=CA2187897210MPIc.526G= (p.Ala176=)
c.487+374G= (n.487+374G=)
c.376G= (p.Ala126=)
c.*422G= (n.*422G=)
c.466G= (p.Ala156=)
c.255+1687G= (n.255+1687G=)
c.337+374G= (n.337+374G=)
c.484G= (p.Ala162=)
c.448+374G= (n.448+374G=)
c.490G= (p.Ala164=)
c.436G= (p.Ala146=)
c.514G= (p.Ala172=)
15g.74893176G>TCA393174221MPIc.526G>T (p.Ala176Ser)
c.487+374G>T (n.487+374G>T)
c.376G>T (p.Ala126Ser)
c.*422G>T (n.*422G>T)
c.466G>T (p.Ala156Ser)
c.255+1687G>T (n.255+1687G>T)
c.337+374G>T (n.337+374G>T)
c.484G>T (p.Ala162Ser)
c.448+374G>T (n.448+374G>T)
c.490G>T (p.Ala164Ser)
c.436G>T (p.Ala146Ser)
c.514G>T (p.Ala172Ser)
15g.74893177C>ACA393174222MPIc.527C>A (p.Ala176Glu)
c.487+375C>A (n.487+375C>A)
c.377C>A (p.Ala126Glu)
c.*423C>A (n.*423C>A)
c.467C>A (p.Ala156Glu)
c.255+1688C>A (n.255+1688C>A)
c.337+375C>A (n.337+375C>A)
c.485C>A (p.Ala162Glu)
c.448+375C>A (n.448+375C>A)
c.491C>A (p.Ala164Glu)
c.437C>A (p.Ala146Glu)
c.515C>A (p.Ala172Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893177C=CA2187897217MPIc.527C= (p.Ala176=)
c.487+375C= (n.487+375C=)
c.377C= (p.Ala126=)
c.*423C= (n.*423C=)
c.467C= (p.Ala156=)
c.255+1688C= (n.255+1688C=)
c.337+375C= (n.337+375C=)
c.485C= (p.Ala162=)
c.448+375C= (n.448+375C=)
c.491C= (p.Ala164=)
c.437C= (p.Ala146=)
c.515C= (p.Ala172=)
15g.74893177C>GCA393174223MPIc.527C>G (p.Ala176Gly)
c.487+375C>G (n.487+375C>G)
c.377C>G (p.Ala126Gly)
c.*423C>G (n.*423C>G)
c.467C>G (p.Ala156Gly)
c.255+1688C>G (n.255+1688C>G)
c.337+375C>G (n.337+375C>G)
c.485C>G (p.Ala162Gly)
c.448+375C>G (n.448+375C>G)
c.491C>G (p.Ala164Gly)
c.437C>G (p.Ala146Gly)
c.515C>G (p.Ala172Gly)
15g.74893177C>TCA393174224MPIc.527C>T (p.Ala176Val)
c.487+375C>T (n.487+375C>T)
c.377C>T (p.Ala126Val)
c.*423C>T (n.*423C>T)
c.467C>T (p.Ala156Val)
c.255+1688C>T (n.255+1688C>T)
c.337+375C>T (n.337+375C>T)
c.485C>T (p.Ala162Val)
c.448+375C>T (n.448+375C>T)
c.491C>T (p.Ala164Val)
c.437C>T (p.Ala146Val)
c.515C>T (p.Ala172Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893178A>CCA491491277MPIc.528A>C (p.Ala176=)
c.487+376A>C (n.487+376A>C)
c.378A>C (p.Ala126=)
c.*424A>C (n.*424A>C)
c.468A>C (p.Ala156=)
c.255+1689A>C (n.255+1689A>C)
c.337+376A>C (n.337+376A>C)
c.486A>C (p.Ala162=)
c.448+376A>C (n.448+376A>C)
c.492A>C (p.Ala164=)
c.438A>C (p.Ala146=)
c.516A>C (p.Ala172=)
15g.74893178A>GCA491491276MPIc.528A>G (p.Ala176=)
c.487+376A>G (n.487+376A>G)
c.378A>G (p.Ala126=)
c.*424A>G (n.*424A>G)
c.468A>G (p.Ala156=)
c.255+1689A>G (n.255+1689A>G)
c.337+376A>G (n.337+376A>G)
c.486A>G (p.Ala162=)
c.448+376A>G (n.448+376A>G)
c.492A>G (p.Ala164=)
c.438A>G (p.Ala146=)
c.516A>G (p.Ala172=)
15g.74893178A>TCA491491278MPIc.528A>T (p.Ala176=)
c.487+376A>T (n.487+376A>T)
c.378A>T (p.Ala126=)
c.*424A>T (n.*424A>T)
c.468A>T (p.Ala156=)
c.255+1689A>T (n.255+1689A>T)
c.337+376A>T (n.337+376A>T)
c.486A>T (p.Ala162=)
c.448+376A>T (n.448+376A>T)
c.492A>T (p.Ala164=)
c.438A>T (p.Ala146=)
c.516A>T (p.Ala172=)
15g.74893179A>CCA393174225MPIc.529A>C (p.Thr177Pro)
c.487+377A>C (n.487+377A>C)
c.379A>C (p.Thr127Pro)
c.*425A>C (n.*425A>C)
c.469A>C (p.Thr157Pro)
c.255+1690A>C (n.255+1690A>C)
c.337+377A>C (n.337+377A>C)
c.487A>C (p.Thr163Pro)
c.448+377A>C (n.448+377A>C)
c.493A>C (p.Thr165Pro)
c.439A>C (p.Thr147Pro)
c.517A>C (p.Thr173Pro)
15g.74893179A>GCA393174227MPIc.529A>G (p.Thr177Ala)
c.487+377A>G (n.487+377A>G)
c.379A>G (p.Thr127Ala)
c.*425A>G (n.*425A>G)
c.469A>G (p.Thr157Ala)
c.255+1690A>G (n.255+1690A>G)
c.337+377A>G (n.337+377A>G)
c.487A>G (p.Thr163Ala)
c.448+377A>G (n.448+377A>G)
c.493A>G (p.Thr165Ala)
c.439A>G (p.Thr147Ala)
c.517A>G (p.Thr173Ala)
15g.74893179A>TCA393174229MPIc.529A>T (p.Thr177Ser)
c.487+377A>T (n.487+377A>T)
c.379A>T (p.Thr127Ser)
c.*425A>T (n.*425A>T)
c.469A>T (p.Thr157Ser)
c.255+1690A>T (n.255+1690A>T)
c.337+377A>T (n.337+377A>T)
c.487A>T (p.Thr163Ser)
c.448+377A>T (n.448+377A>T)
c.493A>T (p.Thr165Ser)
c.439A>T (p.Thr147Ser)
c.517A>T (p.Thr173Ser)
15g.74893183_74893184delCA912992714MPIc.533_534del (p.His178ProfsTer8)
c.487+381_487+382del (n.487+381_487+382del)
c.383_384del (p.His128ProfsTer8)
c.*429_*430del (n.*429_*430del)
c.473_474del (p.His158ProfsTer8)
c.255+1694_255+1695del (n.255+1694_255+1695del)
c.337+381_337+382del (n.337+381_337+382del)
c.491_492del (p.His164ProfsTer8)
c.448+381_448+382del (n.448+381_448+382del)
c.497_498del (p.His166ProfsTer8)
c.443_444del (p.His148ProfsTer8)
c.521_522del (p.His174ProfsTer8)
15g.74893180C>ACA393174240MPIc.530C>A (p.Thr177Lys)
c.487+378C>A (n.487+378C>A)
c.380C>A (p.Thr127Lys)
c.*426C>A (n.*426C>A)
c.470C>A (p.Thr157Lys)
c.255+1691C>A (n.255+1691C>A)
c.337+378C>A (n.337+378C>A)
c.488C>A (p.Thr163Lys)
c.448+378C>A (n.448+378C>A)
c.494C>A (p.Thr165Lys)
c.440C>A (p.Thr147Lys)
c.518C>A (p.Thr173Lys)
15g.74893180C=CA2187897222MPIc.530C= (p.Thr177=)
c.487+378C= (n.487+378C=)
c.380C= (p.Thr127=)
c.*426C= (n.*426C=)
c.470C= (p.Thr157=)
c.255+1691C= (n.255+1691C=)
c.337+378C= (n.337+378C=)
c.488C= (p.Thr163=)
c.448+378C= (n.448+378C=)
c.494C= (p.Thr165=)
c.440C= (p.Thr147=)
c.518C= (p.Thr173=)
15g.74893180C>GCA393174237MPIc.530C>G (p.Thr177Arg)
c.487+378C>G (n.487+378C>G)
c.380C>G (p.Thr127Arg)
c.*426C>G (n.*426C>G)
c.470C>G (p.Thr157Arg)
c.255+1691C>G (n.255+1691C>G)
c.337+378C>G (n.337+378C>G)
c.488C>G (p.Thr163Arg)
c.448+378C>G (n.448+378C>G)
c.494C>G (p.Thr165Arg)
c.440C>G (p.Thr147Arg)
c.518C>G (p.Thr173Arg)
15g.74893180C>TCA272823541MPIc.530C>T (p.Thr177Ile)
c.487+378C>T (n.487+378C>T)
c.380C>T (p.Thr127Ile)
c.*426C>T (n.*426C>T)
c.470C>T (p.Thr157Ile)
c.255+1691C>T (n.255+1691C>T)
c.337+378C>T (n.337+378C>T)
c.488C>T (p.Thr163Ile)
c.448+378C>T (n.448+378C>T)
c.494C>T (p.Thr165Ile)
c.440C>T (p.Thr147Ile)
c.518C>T (p.Thr173Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893180dupCA2695197319MPIc.530dup (p.His178ThrfsTer9)
c.487+378dup (n.487+378dup)
c.380dup (p.His128ThrfsTer9)
c.*426dup (n.*426dup)
c.470dup (p.His158ThrfsTer9)
c.255+1691dup (n.255+1691dup)
c.337+378dup (n.337+378dup)
c.488dup (p.His164ThrfsTer9)
c.448+378dup (n.448+378dup)
c.494dup (p.His166ThrfsTer9)
c.440dup (p.His148ThrfsTer9)
c.518dup (p.His174ThrfsTer9)
 ClinVar
15g.74893181A>CCA491491279MPIc.531A>C (p.Thr177=)
c.487+379A>C (n.487+379A>C)
c.381A>C (p.Thr127=)
c.*427A>C (n.*427A>C)
c.471A>C (p.Thr157=)
c.255+1692A>C (n.255+1692A>C)
c.337+379A>C (n.337+379A>C)
c.489A>C (p.Thr163=)
c.448+379A>C (n.448+379A>C)
c.495A>C (p.Thr165=)
c.441A>C (p.Thr147=)
c.519A>C (p.Thr173=)
15g.74893181A>GCA491491280MPIc.531A>G (p.Thr177=)
c.487+379A>G (n.487+379A>G)
c.381A>G (p.Thr127=)
c.*427A>G (n.*427A>G)
c.471A>G (p.Thr157=)
c.255+1692A>G (n.255+1692A>G)
c.337+379A>G (n.337+379A>G)
c.489A>G (p.Thr163=)
c.448+379A>G (n.448+379A>G)
c.495A>G (p.Thr165=)
c.441A>G (p.Thr147=)
c.519A>G (p.Thr173=)
 ClinVar
15g.74893181A>TCA491491281MPIc.531A>T (p.Thr177=)
c.487+379A>T (n.487+379A>T)
c.381A>T (p.Thr127=)
c.*427A>T (n.*427A>T)
c.471A>T (p.Thr157=)
c.255+1692A>T (n.255+1692A>T)
c.337+379A>T (n.337+379A>T)
c.489A>T (p.Thr163=)
c.448+379A>T (n.448+379A>T)
c.495A>T (p.Thr165=)
c.441A>T (p.Thr147=)
c.519A>T (p.Thr173=)
15g.74893182C>ACA393174245MPIc.532C>A (p.His178Asn)
c.487+380C>A (n.487+380C>A)
c.382C>A (p.His128Asn)
c.*428C>A (n.*428C>A)
c.472C>A (p.His158Asn)
c.255+1693C>A (n.255+1693C>A)
c.337+380C>A (n.337+380C>A)
c.490C>A (p.His164Asn)
c.448+380C>A (n.448+380C>A)
c.496C>A (p.His166Asn)
c.442C>A (p.His148Asn)
c.520C>A (p.His174Asn)
 dbSNP gnomAD v3 gnomAD v4
15g.74893182C=CA2187897229MPIc.532C= (p.His178=)
c.487+380C= (n.487+380C=)
c.382C= (p.His128=)
c.*428C= (n.*428C=)
c.472C= (p.His158=)
c.255+1693C= (n.255+1693C=)
c.337+380C= (n.337+380C=)
c.490C= (p.His164=)
c.448+380C= (n.448+380C=)
c.496C= (p.His166=)
c.442C= (p.His148=)
c.520C= (p.His174=)
15g.74893182C>GCA393174247MPIc.532C>G (p.His178Asp)
c.487+380C>G (n.487+380C>G)
c.382C>G (p.His128Asp)
c.*428C>G (n.*428C>G)
c.472C>G (p.His158Asp)
c.255+1693C>G (n.255+1693C>G)
c.337+380C>G (n.337+380C>G)
c.490C>G (p.His164Asp)
c.448+380C>G (n.448+380C>G)
c.496C>G (p.His166Asp)
c.442C>G (p.His148Asp)
c.520C>G (p.His174Asp)
15g.74893182C>TCA393174248MPIc.532C>T (p.His178Tyr)
c.487+380C>T (n.487+380C>T)
c.382C>T (p.His128Tyr)
c.*428C>T (n.*428C>T)
c.472C>T (p.His158Tyr)
c.255+1693C>T (n.255+1693C>T)
c.337+380C>T (n.337+380C>T)
c.490C>T (p.His164Tyr)
c.448+380C>T (n.448+380C>T)
c.496C>T (p.His166Tyr)
c.442C>T (p.His148Tyr)
c.520C>T (p.His174Tyr)
 dbSNP gnomAD v2 gnomAD v4
15g.74893183A>CCA393174250MPIc.533A>C (p.His178Pro)
c.487+381A>C (n.487+381A>C)
c.383A>C (p.His128Pro)
c.*429A>C (n.*429A>C)
c.473A>C (p.His158Pro)
c.255+1694A>C (n.255+1694A>C)
c.337+381A>C (n.337+381A>C)
c.491A>C (p.His164Pro)
c.448+381A>C (n.448+381A>C)
c.497A>C (p.His166Pro)
c.443A>C (p.His148Pro)
c.521A>C (p.His174Pro)
 ClinVar dbSNP
15g.74893183A>GCA393174252MPIc.533A>G (p.His178Arg)
c.487+381A>G (n.487+381A>G)
c.383A>G (p.His128Arg)
c.*429A>G (n.*429A>G)
c.473A>G (p.His158Arg)
c.255+1694A>G (n.255+1694A>G)
c.337+381A>G (n.337+381A>G)
c.491A>G (p.His164Arg)
c.448+381A>G (n.448+381A>G)
c.497A>G (p.His166Arg)
c.443A>G (p.His148Arg)
c.521A>G (p.His174Arg)
15g.74893183A>TCA393174267MPIc.533A>T (p.His178Leu)
c.487+381A>T (n.487+381A>T)
c.383A>T (p.His128Leu)
c.*429A>T (n.*429A>T)
c.473A>T (p.His158Leu)
c.255+1694A>T (n.255+1694A>T)
c.337+381A>T (n.337+381A>T)
c.491A>T (p.His164Leu)
c.448+381A>T (n.448+381A>T)
c.497A>T (p.His166Leu)
c.443A>T (p.His148Leu)
c.521A>T (p.His174Leu)
15g.74893183_74893184delinsACCA2187897231MPIc.533_534delinsAC (p.His178=)
c.487+381_487+382delinsAC (n.487+381_487+382delinsAC)
c.383_384delinsAC (p.His128=)
c.*429_*430delinsAC (n.*429_*430delinsAC)
c.473_474delinsAC (p.His158=)
c.255+1694_255+1695delinsAC (n.255+1694_255+1695delinsAC)
c.337+381_337+382delinsAC (n.337+381_337+382delinsAC)
c.491_492delinsAC (p.His164=)
c.448+381_448+382delinsAC (n.448+381_448+382delinsAC)
c.497_498delinsAC (p.His166=)
c.443_444delinsAC (p.His148=)
c.521_522delinsAC (p.His174=)
15g.74893184C>ACA393174275MPIc.534C>A (p.His178Gln)
c.487+382C>A (n.487+382C>A)
c.384C>A (p.His128Gln)
c.*430C>A (n.*430C>A)
c.474C>A (p.His158Gln)
c.255+1695C>A (n.255+1695C>A)
c.337+382C>A (n.337+382C>A)
c.492C>A (p.His164Gln)
c.448+382C>A (n.448+382C>A)
c.498C>A (p.His166Gln)
c.444C>A (p.His148Gln)
c.522C>A (p.His174Gln)
15g.74893184C=CA2187897238MPIc.534C= (p.His178=)
c.487+382C= (n.487+382C=)
c.384C= (p.His128=)
c.*430C= (n.*430C=)
c.474C= (p.His158=)
c.255+1695C= (n.255+1695C=)
c.337+382C= (n.337+382C=)
c.492C= (p.His164=)
c.448+382C= (n.448+382C=)
c.498C= (p.His166=)
c.444C= (p.His148=)
c.522C= (p.His174=)
15g.74893184C>GCA393174269MPIc.534C>G (p.His178Gln)
c.487+382C>G (n.487+382C>G)
c.384C>G (p.His128Gln)
c.*430C>G (n.*430C>G)
c.474C>G (p.His158Gln)
c.255+1695C>G (n.255+1695C>G)
c.337+382C>G (n.337+382C>G)
c.492C>G (p.His164Gln)
c.448+382C>G (n.448+382C>G)
c.498C>G (p.His166Gln)
c.444C>G (p.His148Gln)
c.522C>G (p.His174Gln)
15g.74893184C>TCA7662461MPIc.534C>T (p.His178=)
c.487+382C>T (n.487+382C>T)
c.384C>T (p.His128=)
c.*430C>T (n.*430C>T)
c.474C>T (p.His158=)
c.255+1695C>T (n.255+1695C>T)
c.337+382C>T (n.337+382C>T)
c.492C>T (p.His164=)
c.448+382C>T (n.448+382C>T)
c.498C>T (p.His166=)
c.444C>T (p.His148=)
c.522C>T (p.His174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893185delCA658824999MPIc.535del (p.Leu179Ter)
c.487+383del (n.487+383del)
c.385del (p.Leu129Ter)
c.*431del (n.*431del)
c.475del (p.Leu159Ter)
c.255+1696del (n.255+1696del)
c.337+383del (n.337+383del)
c.493del (p.Leu165Ter)
c.448+383del (n.448+383del)
c.499del (p.Leu167Ter)
c.445del (p.Leu149Ter)
c.523del (p.Leu175Ter)
 ClinVar dbSNP gnomAD v4
15g.74893185C>ACA393174292MPIc.535C>A (p.Leu179Met)
c.487+383C>A (n.487+383C>A)
c.385C>A (p.Leu129Met)
c.*431C>A (n.*431C>A)
c.475C>A (p.Leu159Met)
c.255+1696C>A (n.255+1696C>A)
c.337+383C>A (n.337+383C>A)
c.493C>A (p.Leu165Met)
c.448+383C>A (n.448+383C>A)
c.499C>A (p.Leu167Met)
c.445C>A (p.Leu149Met)
c.523C>A (p.Leu175Met)
 dbSNP gnomAD v4
15g.74893185C=CA2187897242MPIc.535C= (p.Leu179=)
c.487+383C= (n.487+383C=)
c.385C= (p.Leu129=)
c.*431C= (n.*431C=)
c.475C= (p.Leu159=)
c.255+1696C= (n.255+1696C=)
c.337+383C= (n.337+383C=)
c.493C= (p.Leu165=)
c.448+383C= (n.448+383C=)
c.499C= (p.Leu167=)
c.445C= (p.Leu149=)
c.523C= (p.Leu175=)
15g.74893185C>GCA393174295MPIc.535C>G (p.Leu179Val)
c.487+383C>G (n.487+383C>G)
c.385C>G (p.Leu129Val)
c.*431C>G (n.*431C>G)
c.475C>G (p.Leu159Val)
c.255+1696C>G (n.255+1696C>G)
c.337+383C>G (n.337+383C>G)
c.493C>G (p.Leu165Val)
c.448+383C>G (n.448+383C>G)
c.499C>G (p.Leu167Val)
c.445C>G (p.Leu149Val)
c.523C>G (p.Leu175Val)
 gnomAD v4
15g.74893185C>TCA491491282MPIc.535C>T (p.Leu179=)
c.487+383C>T (n.487+383C>T)
c.385C>T (p.Leu129=)
c.*431C>T (n.*431C>T)
c.475C>T (p.Leu159=)
c.255+1696C>T (n.255+1696C>T)
c.337+383C>T (n.337+383C>T)
c.493C>T (p.Leu165=)
c.448+383C>T (n.448+383C>T)
c.499C>T (p.Leu167=)
c.445C>T (p.Leu149=)
c.523C>T (p.Leu175=)
15g.74893186T>ACA393174298MPIc.536T>A (p.Leu179Gln)
c.487+384T>A (n.487+384T>A)
c.386T>A (p.Leu129Gln)
c.*432T>A (n.*432T>A)
c.476T>A (p.Leu159Gln)
c.255+1697T>A (n.255+1697T>A)
c.337+384T>A (n.337+384T>A)
c.494T>A (p.Leu165Gln)
c.448+384T>A (n.448+384T>A)
c.500T>A (p.Leu167Gln)
c.446T>A (p.Leu149Gln)
c.524T>A (p.Leu175Gln)
15g.74893186T>CCA393174299MPIc.536T>C (p.Leu179Pro)
c.487+384T>C (n.487+384T>C)
c.386T>C (p.Leu129Pro)
c.*432T>C (n.*432T>C)
c.476T>C (p.Leu159Pro)
c.255+1697T>C (n.255+1697T>C)
c.337+384T>C (n.337+384T>C)
c.494T>C (p.Leu165Pro)
c.448+384T>C (n.448+384T>C)
c.500T>C (p.Leu167Pro)
c.446T>C (p.Leu149Pro)
c.524T>C (p.Leu175Pro)
 dbSNP
15g.74893186T>GCA393174300MPIc.536T>G (p.Leu179Arg)
c.487+384T>G (n.487+384T>G)
c.386T>G (p.Leu129Arg)
c.*432T>G (n.*432T>G)
c.476T>G (p.Leu159Arg)
c.255+1697T>G (n.255+1697T>G)
c.337+384T>G (n.337+384T>G)
c.494T>G (p.Leu165Arg)
c.448+384T>G (n.448+384T>G)
c.500T>G (p.Leu167Arg)
c.446T>G (p.Leu149Arg)
c.524T>G (p.Leu175Arg)
15g.74893186T=CA2187897249MPIc.536T= (p.Leu179=)
c.487+384T= (n.487+384T=)
c.386T= (p.Leu129=)
c.*432T= (n.*432T=)
c.476T= (p.Leu159=)
c.255+1697T= (n.255+1697T=)
c.337+384T= (n.337+384T=)
c.494T= (p.Leu165=)
c.448+384T= (n.448+384T=)
c.500T= (p.Leu167=)
c.446T= (p.Leu149=)
c.524T= (p.Leu175=)
15g.74893187G>ACA491491283MPIc.537G>A (p.Leu179=)
c.487+385G>A (n.487+385G>A)
c.387G>A (p.Leu129=)
c.*433G>A (n.*433G>A)
c.477G>A (p.Leu159=)
c.255+1698G>A (n.255+1698G>A)
c.337+385G>A (n.337+385G>A)
c.495G>A (p.Leu165=)
c.448+385G>A (n.448+385G>A)
c.501G>A (p.Leu167=)
c.447G>A (p.Leu149=)
c.525G>A (p.Leu175=)
15g.74893187G>CCA491491284MPIc.537G>C (p.Leu179=)
c.487+385G>C (n.487+385G>C)
c.387G>C (p.Leu129=)
c.*433G>C (n.*433G>C)
c.477G>C (p.Leu159=)
c.255+1698G>C (n.255+1698G>C)
c.337+385G>C (n.337+385G>C)
c.495G>C (p.Leu165=)
c.448+385G>C (n.448+385G>C)
c.501G>C (p.Leu167=)
c.447G>C (p.Leu149=)
c.525G>C (p.Leu175=)
15g.74893187G>TCA491491285MPIc.537G>T (p.Leu179=)
c.487+385G>T (n.487+385G>T)
c.387G>T (p.Leu129=)
c.*433G>T (n.*433G>T)
c.477G>T (p.Leu159=)
c.255+1698G>T (n.255+1698G>T)
c.337+385G>T (n.337+385G>T)
c.495G>T (p.Leu165=)
c.448+385G>T (n.448+385G>T)
c.501G>T (p.Leu167=)
c.447G>T (p.Leu149=)
c.525G>T (p.Leu175=)
15g.74893188A>CCA393174311MPIc.538A>C (p.Lys180Gln)
c.487+386A>C (n.487+386A>C)
c.388A>C (p.Lys130Gln)
c.*434A>C (n.*434A>C)
c.478A>C (p.Lys160Gln)
c.255+1699A>C (n.255+1699A>C)
c.337+386A>C (n.337+386A>C)
c.496A>C (p.Lys166Gln)
c.448+386A>C (n.448+386A>C)
c.502A>C (p.Lys168Gln)
c.448A>C (p.Lys150Gln)
c.526A>C (p.Lys176Gln)
15g.74893188A>GCA393174304MPIc.538A>G (p.Lys180Glu)
c.487+386A>G (n.487+386A>G)
c.388A>G (p.Lys130Glu)
c.*434A>G (n.*434A>G)
c.478A>G (p.Lys160Glu)
c.255+1699A>G (n.255+1699A>G)
c.337+386A>G (n.337+386A>G)
c.496A>G (p.Lys166Glu)
c.448+386A>G (n.448+386A>G)
c.502A>G (p.Lys168Glu)
c.448A>G (p.Lys150Glu)
c.526A>G (p.Lys176Glu)
15g.74893188A>TCA393174308MPIc.538A>T (p.Lys180Ter)
c.487+386A>T (n.487+386A>T)
c.388A>T (p.Lys130Ter)
c.*434A>T (n.*434A>T)
c.478A>T (p.Lys160Ter)
c.255+1699A>T (n.255+1699A>T)
c.337+386A>T (n.337+386A>T)
c.496A>T (p.Lys166Ter)
c.448+386A>T (n.448+386A>T)
c.502A>T (p.Lys168Ter)
c.448A>T (p.Lys150Ter)
c.526A>T (p.Lys176Ter)
15g.74893189A>CCA393174312MPIc.539A>C (p.Lys180Thr)
c.487+387A>C (n.487+387A>C)
c.389A>C (p.Lys130Thr)
c.*435A>C (n.*435A>C)
c.479A>C (p.Lys160Thr)
c.255+1700A>C (n.255+1700A>C)
c.337+387A>C (n.337+387A>C)
c.497A>C (p.Lys166Thr)
c.448+387A>C (n.448+387A>C)
c.503A>C (p.Lys168Thr)
c.449A>C (p.Lys150Thr)
c.527A>C (p.Lys176Thr)
15g.74893189A>GCA393174316MPIc.539A>G (p.Lys180Arg)
c.487+387A>G (n.487+387A>G)
c.389A>G (p.Lys130Arg)
c.*435A>G (n.*435A>G)
c.479A>G (p.Lys160Arg)
c.255+1700A>G (n.255+1700A>G)
c.337+387A>G (n.337+387A>G)
c.497A>G (p.Lys166Arg)
c.448+387A>G (n.448+387A>G)
c.503A>G (p.Lys168Arg)
c.449A>G (p.Lys150Arg)
c.527A>G (p.Lys176Arg)
15g.74893189A>TCA393174319MPIc.539A>T (p.Lys180Met)
c.487+387A>T (n.487+387A>T)
c.389A>T (p.Lys130Met)
c.*435A>T (n.*435A>T)
c.479A>T (p.Lys160Met)
c.255+1700A>T (n.255+1700A>T)
c.337+387A>T (n.337+387A>T)
c.497A>T (p.Lys166Met)
c.448+387A>T (n.448+387A>T)
c.503A>T (p.Lys168Met)
c.449A>T (p.Lys150Met)
c.527A>T (p.Lys176Met)
15g.74893190G>ACA491491286MPIc.540G>A (p.Lys180=)
c.487+388G>A (n.487+388G>A)
c.390G>A (p.Lys130=)
c.*436G>A (n.*436G>A)
c.480G>A (p.Lys160=)
c.255+1701G>A (n.255+1701G>A)
c.337+388G>A (n.337+388G>A)
c.498G>A (p.Lys166=)
c.448+388G>A (n.448+388G>A)
c.504G>A (p.Lys168=)
c.450G>A (p.Lys150=)
c.528G>A (p.Lys176=)
15g.74893190G>CCA393174321MPIc.540G>C (p.Lys180Asn)
c.487+388G>C (n.487+388G>C)
c.390G>C (p.Lys130Asn)
c.*436G>C (n.*436G>C)
c.480G>C (p.Lys160Asn)
c.255+1701G>C (n.255+1701G>C)
c.337+388G>C (n.337+388G>C)
c.498G>C (p.Lys166Asn)
c.448+388G>C (n.448+388G>C)
c.504G>C (p.Lys168Asn)
c.450G>C (p.Lys150Asn)
c.528G>C (p.Lys176Asn)
15g.74893190G>TCA393174325MPIc.540G>T (p.Lys180Asn)
c.487+388G>T (n.487+388G>T)
c.390G>T (p.Lys130Asn)
c.*436G>T (n.*436G>T)
c.480G>T (p.Lys160Asn)
c.255+1701G>T (n.255+1701G>T)
c.337+388G>T (n.337+388G>T)
c.498G>T (p.Lys166Asn)
c.448+388G>T (n.448+388G>T)
c.504G>T (p.Lys168Asn)
c.450G>T (p.Lys150Asn)
c.528G>T (p.Lys176Asn)
 COSMIC
15g.74893191C>ACA393174327MPIc.541C>A (p.Gln181Lys)
c.487+389C>A (n.487+389C>A)
c.391C>A (p.Gln131Lys)
c.*437C>A (n.*437C>A)
c.481C>A (p.Gln161Lys)
c.255+1702C>A (n.255+1702C>A)
c.337+389C>A (n.337+389C>A)
c.499C>A (p.Gln167Lys)
c.448+389C>A (n.448+389C>A)
c.505C>A (p.Gln169Lys)
c.451C>A (p.Gln151Lys)
c.529C>A (p.Gln177Lys)
15g.74893191C>GCA393174330MPIc.541C>G (p.Gln181Glu)
c.487+389C>G (n.487+389C>G)
c.391C>G (p.Gln131Glu)
c.*437C>G (n.*437C>G)
c.481C>G (p.Gln161Glu)
c.255+1702C>G (n.255+1702C>G)
c.337+389C>G (n.337+389C>G)
c.499C>G (p.Gln167Glu)
c.448+389C>G (n.448+389C>G)
c.505C>G (p.Gln169Glu)
c.451C>G (p.Gln151Glu)
c.529C>G (p.Gln177Glu)
15g.74893191C>TCA393174332MPIc.541C>T (p.Gln181Ter)
c.487+389C>T (n.487+389C>T)
c.391C>T (p.Gln131Ter)
c.*437C>T (n.*437C>T)
c.481C>T (p.Gln161Ter)
c.255+1702C>T (n.255+1702C>T)
c.337+389C>T (n.337+389C>T)
c.499C>T (p.Gln167Ter)
c.448+389C>T (n.448+389C>T)
c.505C>T (p.Gln169Ter)
c.451C>T (p.Gln151Ter)
c.529C>T (p.Gln177Ter)
15g.74893192_74893195delCA2629530400MPIc.542_545del (p.Gln181ProfsTer2)
c.487+390_487+393del (n.487+390_487+393del)
c.392_395del (p.Gln131ProfsTer2)
c.*438_*441del (n.*438_*441del)
c.482_485del (p.Gln161ProfsTer2)
c.255+1703_255+1706del (n.255+1703_255+1706del)
c.337+390_337+393del (n.337+390_337+393del)
c.500_503del (p.Gln167ProfsTer2)
c.448+390_448+393del (n.448+390_448+393del)
c.506_509del (p.Gln169ProfsTer2)
c.452_455del (p.Gln151ProfsTer2)
c.530_533del (p.Gln177ProfsTer2)
 gnomAD v4
15g.74893192A>CCA393174335MPIc.542A>C (p.Gln181Pro)
c.487+390A>C (n.487+390A>C)
c.392A>C (p.Gln131Pro)
c.*438A>C (n.*438A>C)
c.482A>C (p.Gln161Pro)
c.255+1703A>C (n.255+1703A>C)
c.337+390A>C (n.337+390A>C)
c.500A>C (p.Gln167Pro)
c.448+390A>C (n.448+390A>C)
c.506A>C (p.Gln169Pro)
c.452A>C (p.Gln151Pro)
c.530A>C (p.Gln177Pro)
15g.74893192A>GCA393174338MPIc.542A>G (p.Gln181Arg)
c.487+390A>G (n.487+390A>G)
c.392A>G (p.Gln131Arg)
c.*438A>G (n.*438A>G)
c.482A>G (p.Gln161Arg)
c.255+1703A>G (n.255+1703A>G)
c.337+390A>G (n.337+390A>G)
c.500A>G (p.Gln167Arg)
c.448+390A>G (n.448+390A>G)
c.506A>G (p.Gln169Arg)
c.452A>G (p.Gln151Arg)
c.530A>G (p.Gln177Arg)
15g.74893192A>TCA393174340MPIc.542A>T (p.Gln181Leu)
c.487+390A>T (n.487+390A>T)
c.392A>T (p.Gln131Leu)
c.*438A>T (n.*438A>T)
c.482A>T (p.Gln161Leu)
c.255+1703A>T (n.255+1703A>T)
c.337+390A>T (n.337+390A>T)
c.500A>T (p.Gln167Leu)
c.448+390A>T (n.448+390A>T)
c.506A>T (p.Gln169Leu)
c.452A>T (p.Gln151Leu)
c.530A>T (p.Gln177Leu)
15g.74893193G>ACA491491287MPIc.543G>A (p.Gln181=)
c.487+391G>A (n.487+391G>A)
c.393G>A (p.Gln131=)
c.*439G>A (n.*439G>A)
c.483G>A (p.Gln161=)
c.255+1704G>A (n.255+1704G>A)
c.337+391G>A (n.337+391G>A)
c.501G>A (p.Gln167=)
c.448+391G>A (n.448+391G>A)
c.507G>A (p.Gln169=)
c.453G>A (p.Gln151=)
c.531G>A (p.Gln177=)
 COSMIC
15g.74893193G>CCA393174342MPIc.543G>C (p.Gln181His)
c.487+391G>C (n.487+391G>C)
c.393G>C (p.Gln131His)
c.*439G>C (n.*439G>C)
c.483G>C (p.Gln161His)
c.255+1704G>C (n.255+1704G>C)
c.337+391G>C (n.337+391G>C)
c.501G>C (p.Gln167His)
c.448+391G>C (n.448+391G>C)
c.507G>C (p.Gln169His)
c.453G>C (p.Gln151His)
c.531G>C (p.Gln177His)
 gnomAD v4
15g.74893193G>TCA393174345MPIc.543G>T (p.Gln181His)
c.487+391G>T (n.487+391G>T)
c.393G>T (p.Gln131His)
c.*439G>T (n.*439G>T)
c.483G>T (p.Gln161His)
c.255+1704G>T (n.255+1704G>T)
c.337+391G>T (n.337+391G>T)
c.501G>T (p.Gln167His)
c.448+391G>T (n.448+391G>T)
c.507G>T (p.Gln169His)
c.453G>T (p.Gln151His)
c.531G>T (p.Gln177His)
15g.74893194A>CCA393174348MPIc.544A>C (p.Thr182Pro)
c.487+392A>C (n.487+392A>C)
c.394A>C (p.Thr132Pro)
c.*440A>C (n.*440A>C)
c.484A>C (p.Thr162Pro)
c.255+1705A>C (n.255+1705A>C)
c.337+392A>C (n.337+392A>C)
c.502A>C (p.Thr168Pro)
c.448+392A>C (n.448+392A>C)
c.508A>C (p.Thr170Pro)
c.454A>C (p.Thr152Pro)
c.532A>C (p.Thr178Pro)
15g.74893194A>GCA393174354MPIc.544A>G (p.Thr182Ala)
c.487+392A>G (n.487+392A>G)
c.394A>G (p.Thr132Ala)
c.*440A>G (n.*440A>G)
c.484A>G (p.Thr162Ala)
c.255+1705A>G (n.255+1705A>G)
c.337+392A>G (n.337+392A>G)
c.502A>G (p.Thr168Ala)
c.448+392A>G (n.448+392A>G)
c.508A>G (p.Thr170Ala)
c.454A>G (p.Thr152Ala)
c.532A>G (p.Thr178Ala)
15g.74893194A>TCA393174351MPIc.544A>T (p.Thr182Ser)
c.487+392A>T (n.487+392A>T)
c.394A>T (p.Thr132Ser)
c.*440A>T (n.*440A>T)
c.484A>T (p.Thr162Ser)
c.255+1705A>T (n.255+1705A>T)
c.337+392A>T (n.337+392A>T)
c.502A>T (p.Thr168Ser)
c.448+392A>T (n.448+392A>T)
c.508A>T (p.Thr170Ser)
c.454A>T (p.Thr152Ser)
c.532A>T (p.Thr178Ser)
15g.74893195C>ACA393174356MPIc.545C>A (p.Thr182Asn)
c.487+393C>A (n.487+393C>A)
c.395C>A (p.Thr132Asn)
c.*441C>A (n.*441C>A)
c.485C>A (p.Thr162Asn)
c.255+1706C>A (n.255+1706C>A)
c.337+393C>A (n.337+393C>A)
c.503C>A (p.Thr168Asn)
c.448+393C>A (n.448+393C>A)
c.509C>A (p.Thr170Asn)
c.455C>A (p.Thr152Asn)
c.533C>A (p.Thr178Asn)
15g.74893195C>GCA393174359MPIc.545C>G (p.Thr182Ser)
c.487+393C>G (n.487+393C>G)
c.395C>G (p.Thr132Ser)
c.*441C>G (n.*441C>G)
c.485C>G (p.Thr162Ser)
c.255+1706C>G (n.255+1706C>G)
c.337+393C>G (n.337+393C>G)
c.503C>G (p.Thr168Ser)
c.448+393C>G (n.448+393C>G)
c.509C>G (p.Thr170Ser)
c.455C>G (p.Thr152Ser)
c.533C>G (p.Thr178Ser)
15g.74893195C>TCA393174361MPIc.545C>T (p.Thr182Ile)
c.487+393C>T (n.487+393C>T)
c.395C>T (p.Thr132Ile)
c.*441C>T (n.*441C>T)
c.485C>T (p.Thr162Ile)
c.255+1706C>T (n.255+1706C>T)
c.337+393C>T (n.337+393C>T)
c.503C>T (p.Thr168Ile)
c.448+393C>T (n.448+393C>T)
c.509C>T (p.Thr170Ile)
c.455C>T (p.Thr152Ile)
c.533C>T (p.Thr178Ile)
15g.74893196C>ACA491491288MPIc.546C>A (p.Thr182=)
c.487+394C>A (n.487+394C>A)
c.396C>A (p.Thr132=)
c.*442C>A (n.*442C>A)
c.486C>A (p.Thr162=)
c.255+1707C>A (n.255+1707C>A)
c.337+394C>A (n.337+394C>A)
c.504C>A (p.Thr168=)
c.448+394C>A (n.448+394C>A)
c.510C>A (p.Thr170=)
c.456C>A (p.Thr152=)
c.534C>A (p.Thr178=)
15g.74893196C=CA2187897253MPIc.546C= (p.Thr182=)
c.487+394C= (n.487+394C=)
c.396C= (p.Thr132=)
c.*442C= (n.*442C=)
c.486C= (p.Thr162=)
c.255+1707C= (n.255+1707C=)
c.337+394C= (n.337+394C=)
c.504C= (p.Thr168=)
c.448+394C= (n.448+394C=)
c.510C= (p.Thr170=)
c.456C= (p.Thr152=)
c.534C= (p.Thr178=)
15g.74893196C>GCA491491289MPIc.546C>G (p.Thr182=)
c.487+394C>G (n.487+394C>G)
c.396C>G (p.Thr132=)
c.*442C>G (n.*442C>G)
c.486C>G (p.Thr162=)
c.255+1707C>G (n.255+1707C>G)
c.337+394C>G (n.337+394C>G)
c.504C>G (p.Thr168=)
c.448+394C>G (n.448+394C>G)
c.510C>G (p.Thr170=)
c.456C>G (p.Thr152=)
c.534C>G (p.Thr178=)
 gnomAD v4
15g.74893196C>TCA491491290MPIc.546C>T (p.Thr182=)
c.487+394C>T (n.487+394C>T)
c.396C>T (p.Thr132=)
c.*442C>T (n.*442C>T)
c.486C>T (p.Thr162=)
c.255+1707C>T (n.255+1707C>T)
c.337+394C>T (n.337+394C>T)
c.504C>T (p.Thr168=)
c.448+394C>T (n.448+394C>T)
c.510C>T (p.Thr170=)
c.456C>T (p.Thr152=)
c.534C>T (p.Thr178=)
 ClinVar dbSNP gnomAD v4
15g.74893197A=CA2187897255MPIc.547A= (p.Met183=)
c.487+395A= (n.487+395A=)
c.397A= (p.Met133=)
c.*443A= (n.*443A=)
c.487A= (p.Met163=)
c.255+1708A= (n.255+1708A=)
c.337+395A= (n.337+395A=)
c.505A= (p.Met169=)
c.448+395A= (n.448+395A=)
c.511A= (p.Met171=)
c.457A= (p.Met153=)
c.535A= (p.Met179=)
15g.74893197A>CCA393174362MPIc.547A>C (p.Met183Leu)
c.487+395A>C (n.487+395A>C)
c.397A>C (p.Met133Leu)
c.*443A>C (n.*443A>C)
c.487A>C (p.Met163Leu)
c.255+1708A>C (n.255+1708A>C)
c.337+395A>C (n.337+395A>C)
c.505A>C (p.Met169Leu)
c.448+395A>C (n.448+395A>C)
c.511A>C (p.Met171Leu)
c.457A>C (p.Met153Leu)
c.535A>C (p.Met179Leu)
15g.74893197A>GCA393174364MPIc.547A>G (p.Met183Val)
c.487+395A>G (n.487+395A>G)
c.397A>G (p.Met133Val)
c.*443A>G (n.*443A>G)
c.487A>G (p.Met163Val)
c.255+1708A>G (n.255+1708A>G)
c.337+395A>G (n.337+395A>G)
c.505A>G (p.Met169Val)
c.448+395A>G (n.448+395A>G)
c.511A>G (p.Met171Val)
c.457A>G (p.Met153Val)
c.535A>G (p.Met179Val)
 dbSNP
15g.74893197A>TCA393174366MPIc.547A>T (p.Met183Leu)
c.487+395A>T (n.487+395A>T)
c.397A>T (p.Met133Leu)
c.*443A>T (n.*443A>T)
c.487A>T (p.Met163Leu)
c.255+1708A>T (n.255+1708A>T)
c.337+395A>T (n.337+395A>T)
c.505A>T (p.Met169Leu)
c.448+395A>T (n.448+395A>T)
c.511A>T (p.Met171Leu)
c.457A>T (p.Met153Leu)
c.535A>T (p.Met179Leu)
 gnomAD v4
15g.74893198T>ACA393174369MPIc.548T>A (p.Met183Lys)
c.487+396T>A (n.487+396T>A)
c.398T>A (p.Met133Lys)
c.*444T>A (n.*444T>A)
c.488T>A (p.Met163Lys)
c.255+1709T>A (n.255+1709T>A)
c.337+396T>A (n.337+396T>A)
c.506T>A (p.Met169Lys)
c.448+396T>A (n.448+396T>A)
c.512T>A (p.Met171Lys)
c.458T>A (p.Met153Lys)
c.536T>A (p.Met179Lys)
15g.74893198T>CCA393174371MPIc.548T>C (p.Met183Thr)
c.487+396T>C (n.487+396T>C)
c.398T>C (p.Met133Thr)
c.*444T>C (n.*444T>C)
c.488T>C (p.Met163Thr)
c.255+1709T>C (n.255+1709T>C)
c.337+396T>C (n.337+396T>C)
c.506T>C (p.Met169Thr)
c.448+396T>C (n.448+396T>C)
c.512T>C (p.Met171Thr)
c.458T>C (p.Met153Thr)
c.536T>C (p.Met179Thr)
 dbSNP
15g.74893198T>GCA393174374MPIc.548T>G (p.Met183Arg)
c.487+396T>G (n.487+396T>G)
c.398T>G (p.Met133Arg)
c.*444T>G (n.*444T>G)
c.488T>G (p.Met163Arg)
c.255+1709T>G (n.255+1709T>G)
c.337+396T>G (n.337+396T>G)
c.506T>G (p.Met169Arg)
c.448+396T>G (n.448+396T>G)
c.512T>G (p.Met171Arg)
c.458T>G (p.Met153Arg)
c.536T>G (p.Met179Arg)
 gnomAD v4
15g.74893198T=CA2187897257MPIc.548T= (p.Met183=)
c.487+396T= (n.487+396T=)
c.398T= (p.Met133=)
c.*444T= (n.*444T=)
c.488T= (p.Met163=)
c.255+1709T= (n.255+1709T=)
c.337+396T= (n.337+396T=)
c.506T= (p.Met169=)
c.448+396T= (n.448+396T=)
c.512T= (p.Met171=)
c.458T= (p.Met153=)
c.536T= (p.Met179=)
15g.74893199G>ACA393174380MPIc.549G>A (p.Met183Ile)
c.487+397G>A (n.487+397G>A)
c.399G>A (p.Met133Ile)
c.*445G>A (n.*445G>A)
c.489G>A (p.Met163Ile)
c.255+1710G>A (n.255+1710G>A)
c.337+397G>A (n.337+397G>A)
c.507G>A (p.Met169Ile)
c.448+397G>A (n.448+397G>A)
c.513G>A (p.Met171Ile)
c.459G>A (p.Met153Ile)
c.537G>A (p.Met179Ile)
 gnomAD v4 COSMIC
15g.74893199G>CCA393174384MPIc.549G>C (p.Met183Ile)
c.487+397G>C (n.487+397G>C)
c.399G>C (p.Met133Ile)
c.*445G>C (n.*445G>C)
c.489G>C (p.Met163Ile)
c.255+1710G>C (n.255+1710G>C)
c.337+397G>C (n.337+397G>C)
c.507G>C (p.Met169Ile)
c.448+397G>C (n.448+397G>C)
c.513G>C (p.Met171Ile)
c.459G>C (p.Met153Ile)
c.537G>C (p.Met179Ile)
15g.74893199G>TCA393174388MPIc.549G>T (p.Met183Ile)
c.487+397G>T (n.487+397G>T)
c.399G>T (p.Met133Ile)
c.*445G>T (n.*445G>T)
c.489G>T (p.Met163Ile)
c.255+1710G>T (n.255+1710G>T)
c.337+397G>T (n.337+397G>T)
c.507G>T (p.Met169Ile)
c.448+397G>T (n.448+397G>T)
c.513G>T (p.Met171Ile)
c.459G>T (p.Met153Ile)
c.537G>T (p.Met179Ile)
15g.74893200A>CCA393174391MPIc.550A>C (p.Ser184Arg)
c.487+398A>C (n.487+398A>C)
c.400A>C (p.Ser134Arg)
c.*446A>C (n.*446A>C)
c.490A>C (p.Ser164Arg)
c.255+1711A>C (n.255+1711A>C)
c.337+398A>C (n.337+398A>C)
c.508A>C (p.Ser170Arg)
c.448+398A>C (n.448+398A>C)
c.514A>C (p.Ser172Arg)
c.460A>C (p.Ser154Arg)
c.538A>C (p.Ser180Arg)
15g.74893200A>GCA393174390MPIc.550A>G (p.Ser184Gly)
c.487+398A>G (n.487+398A>G)
c.400A>G (p.Ser134Gly)
c.*446A>G (n.*446A>G)
c.490A>G (p.Ser164Gly)
c.255+1711A>G (n.255+1711A>G)
c.337+398A>G (n.337+398A>G)
c.508A>G (p.Ser170Gly)
c.448+398A>G (n.448+398A>G)
c.514A>G (p.Ser172Gly)
c.460A>G (p.Ser154Gly)
c.538A>G (p.Ser180Gly)
15g.74893200A>TCA393174389MPIc.550A>T (p.Ser184Cys)
c.487+398A>T (n.487+398A>T)
c.400A>T (p.Ser134Cys)
c.*446A>T (n.*446A>T)
c.490A>T (p.Ser164Cys)
c.255+1711A>T (n.255+1711A>T)
c.337+398A>T (n.337+398A>T)
c.508A>T (p.Ser170Cys)
c.448+398A>T (n.448+398A>T)
c.514A>T (p.Ser172Cys)
c.460A>T (p.Ser154Cys)
c.538A>T (p.Ser180Cys)
15g.74893201G>ACA393174394MPIc.551G>A (p.Ser184Asn)
c.487+399G>A (n.487+399G>A)
c.401G>A (p.Ser134Asn)
c.*447G>A (n.*447G>A)
c.491G>A (p.Ser164Asn)
c.255+1712G>A (n.255+1712G>A)
c.337+399G>A (n.337+399G>A)
c.509G>A (p.Ser170Asn)
c.448+399G>A (n.448+399G>A)
c.515G>A (p.Ser172Asn)
c.461G>A (p.Ser154Asn)
c.539G>A (p.Ser180Asn)
 dbSNP gnomAD v4
15g.74893201G>CCA393174397MPIc.551G>C (p.Ser184Thr)
c.487+399G>C (n.487+399G>C)
c.401G>C (p.Ser134Thr)
c.*447G>C (n.*447G>C)
c.491G>C (p.Ser164Thr)
c.255+1712G>C (n.255+1712G>C)
c.337+399G>C (n.337+399G>C)
c.509G>C (p.Ser170Thr)
c.448+399G>C (n.448+399G>C)
c.515G>C (p.Ser172Thr)
c.461G>C (p.Ser154Thr)
c.539G>C (p.Ser180Thr)
 dbSNP
15g.74893201G=CA2187897262MPIc.551G= (p.Ser184=)
c.487+399G= (n.487+399G=)
c.401G= (p.Ser134=)
c.*447G= (n.*447G=)
c.491G= (p.Ser164=)
c.255+1712G= (n.255+1712G=)
c.337+399G= (n.337+399G=)
c.509G= (p.Ser170=)
c.448+399G= (n.448+399G=)
c.515G= (p.Ser172=)
c.461G= (p.Ser154=)
c.539G= (p.Ser180=)
15g.74893201G>TCA393174400MPIc.551G>T (p.Ser184Ile)
c.487+399G>T (n.487+399G>T)
c.401G>T (p.Ser134Ile)
c.*447G>T (n.*447G>T)
c.491G>T (p.Ser164Ile)
c.255+1712G>T (n.255+1712G>T)
c.337+399G>T (n.337+399G>T)
c.509G>T (p.Ser170Ile)
c.448+399G>T (n.448+399G>T)
c.515G>T (p.Ser172Ile)
c.461G>T (p.Ser154Ile)
c.539G>T (p.Ser180Ile)
15g.74893202C>ACA393174404MPIc.552C>A (p.Ser184Arg)
c.487+400C>A (n.487+400C>A)
c.402C>A (p.Ser134Arg)
c.*448C>A (n.*448C>A)
c.492C>A (p.Ser164Arg)
c.255+1713C>A (n.255+1713C>A)
c.337+400C>A (n.337+400C>A)
c.510C>A (p.Ser170Arg)
c.448+400C>A (n.448+400C>A)
c.516C>A (p.Ser172Arg)
c.462C>A (p.Ser154Arg)
c.540C>A (p.Ser180Arg)
15g.74893202C=CA2187897266MPIc.552C= (p.Ser184=)
c.487+400C= (n.487+400C=)
c.402C= (p.Ser134=)
c.*448C= (n.*448C=)
c.492C= (p.Ser164=)
c.255+1713C= (n.255+1713C=)
c.337+400C= (n.337+400C=)
c.510C= (p.Ser170=)
c.448+400C= (n.448+400C=)
c.516C= (p.Ser172=)
c.462C= (p.Ser154=)
c.540C= (p.Ser180=)
15g.74893202C>GCA393174410MPIc.552C>G (p.Ser184Arg)
c.487+400C>G (n.487+400C>G)
c.402C>G (p.Ser134Arg)
c.*448C>G (n.*448C>G)
c.492C>G (p.Ser164Arg)
c.255+1713C>G (n.255+1713C>G)
c.337+400C>G (n.337+400C>G)
c.510C>G (p.Ser170Arg)
c.448+400C>G (n.448+400C>G)
c.516C>G (p.Ser172Arg)
c.462C>G (p.Ser154Arg)
c.540C>G (p.Ser180Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.74893202C>TCA491491291MPIc.552C>T (p.Ser184=)
c.487+400C>T (n.487+400C>T)
c.402C>T (p.Ser134=)
c.*448C>T (n.*448C>T)
c.492C>T (p.Ser164=)
c.255+1713C>T (n.255+1713C>T)
c.337+400C>T (n.337+400C>T)
c.510C>T (p.Ser170=)
c.448+400C>T (n.448+400C>T)
c.516C>T (p.Ser172=)
c.462C>T (p.Ser154=)
c.540C>T (p.Ser180=)
15g.74893203C>ACA393174414MPIc.553C>A (p.His185Asn)
c.487+401C>A (n.487+401C>A)
c.403C>A (p.His135Asn)
c.*449C>A (n.*449C>A)
c.493C>A (p.His165Asn)
c.255+1714C>A (n.255+1714C>A)
c.337+401C>A (n.337+401C>A)
c.511C>A (p.His171Asn)
c.448+401C>A (n.448+401C>A)
c.517C>A (p.His173Asn)
c.463C>A (p.His155Asn)
c.541C>A (p.His181Asn)
15g.74893203C>GCA393174421MPIc.553C>G (p.His185Asp)
c.487+401C>G (n.487+401C>G)
c.403C>G (p.His135Asp)
c.*449C>G (n.*449C>G)
c.493C>G (p.His165Asp)
c.255+1714C>G (n.255+1714C>G)
c.337+401C>G (n.337+401C>G)
c.511C>G (p.His171Asp)
c.448+401C>G (n.448+401C>G)
c.517C>G (p.His173Asp)
c.463C>G (p.His155Asp)
c.541C>G (p.His181Asp)
15g.74893203C>TCA393174424MPIc.553C>T (p.His185Tyr)
c.487+401C>T (n.487+401C>T)
c.403C>T (p.His135Tyr)
c.*449C>T (n.*449C>T)
c.493C>T (p.His165Tyr)
c.255+1714C>T (n.255+1714C>T)
c.337+401C>T (n.337+401C>T)
c.511C>T (p.His171Tyr)
c.448+401C>T (n.448+401C>T)
c.517C>T (p.His173Tyr)
c.463C>T (p.His155Tyr)
c.541C>T (p.His181Tyr)
15g.74893204A>CCA393174427MPIc.554A>C (p.His185Pro)
c.487+402A>C (n.487+402A>C)
c.404A>C (p.His135Pro)
c.*450A>C (n.*450A>C)
c.494A>C (p.His165Pro)
c.255+1715A>C (n.255+1715A>C)
c.337+402A>C (n.337+402A>C)
c.512A>C (p.His171Pro)
c.448+402A>C (n.448+402A>C)
c.518A>C (p.His173Pro)
c.464A>C (p.His155Pro)
c.542A>C (p.His181Pro)
15g.74893204A>GCA393174429MPIc.554A>G (p.His185Arg)
c.487+402A>G (n.487+402A>G)
c.404A>G (p.His135Arg)
c.*450A>G (n.*450A>G)
c.494A>G (p.His165Arg)
c.255+1715A>G (n.255+1715A>G)
c.337+402A>G (n.337+402A>G)
c.512A>G (p.His171Arg)
c.448+402A>G (n.448+402A>G)
c.518A>G (p.His173Arg)
c.464A>G (p.His155Arg)
c.542A>G (p.His181Arg)
15g.74893204A>TCA393174431MPIc.554A>T (p.His185Leu)
c.487+402A>T (n.487+402A>T)
c.404A>T (p.His135Leu)
c.*450A>T (n.*450A>T)
c.494A>T (p.His165Leu)
c.255+1715A>T (n.255+1715A>T)
c.337+402A>T (n.337+402A>T)
c.512A>T (p.His171Leu)
c.448+402A>T (n.448+402A>T)
c.518A>T (p.His173Leu)
c.464A>T (p.His155Leu)
c.542A>T (p.His181Leu)
15g.74893205T>ACA393174434MPIc.555T>A (p.His185Gln)
c.487+403T>A (n.487+403T>A)
c.405T>A (p.His135Gln)
c.*451T>A (n.*451T>A)
c.495T>A (p.His165Gln)
c.255+1716T>A (n.255+1716T>A)
c.337+403T>A (n.337+403T>A)
c.513T>A (p.His171Gln)
c.448+403T>A (n.448+403T>A)
c.519T>A (p.His173Gln)
c.465T>A (p.His155Gln)
c.543T>A (p.His181Gln)
15g.74893205T>CCA16607142MPIc.555T>C (p.His185=)
c.487+403T>C (n.487+403T>C)
c.405T>C (p.His135=)
c.*451T>C (n.*451T>C)
c.495T>C (p.His165=)
c.255+1716T>C (n.255+1716T>C)
c.337+403T>C (n.337+403T>C)
c.513T>C (p.His171=)
c.448+403T>C (n.448+403T>C)
c.519T>C (p.His173=)
c.465T>C (p.His155=)
c.543T>C (p.His181=)
 ClinVar dbSNP
15g.74893205T>GCA393174437MPIc.555T>G (p.His185Gln)
c.487+403T>G (n.487+403T>G)
c.405T>G (p.His135Gln)
c.*451T>G (n.*451T>G)
c.495T>G (p.His165Gln)
c.255+1716T>G (n.255+1716T>G)
c.337+403T>G (n.337+403T>G)
c.513T>G (p.His171Gln)
c.448+403T>G (n.448+403T>G)
c.519T>G (p.His173Gln)
c.465T>G (p.His155Gln)
c.543T>G (p.His181Gln)
15g.74893205T=CA2187897269MPIc.555T= (p.His185=)
c.487+403T= (n.487+403T=)
c.405T= (p.His135=)
c.*451T= (n.*451T=)
c.495T= (p.His165=)
c.255+1716T= (n.255+1716T=)
c.337+403T= (n.337+403T=)
c.513T= (p.His171=)
c.448+403T= (n.448+403T=)
c.519T= (p.His173=)
c.465T= (p.His155=)
c.543T= (p.His181=)
15g.74893206G>ACA393174443MPIc.556G>A (p.Asp186Asn)
c.487+404G>A (n.487+404G>A)
c.406G>A (p.Asp136Asn)
c.*452G>A (n.*452G>A)
c.496G>A (p.Asp166Asn)
c.255+1717G>A (n.255+1717G>A)
c.337+404G>A (n.337+404G>A)
c.514G>A (p.Asp172Asn)
c.448+404G>A (n.448+404G>A)
c.520G>A (p.Asp174Asn)
c.466G>A (p.Asp156Asn)
c.544G>A (p.Asp182Asn)
 COSMIC
15g.74893206G>CCA393174446MPIc.556G>C (p.Asp186His)
c.487+404G>C (n.487+404G>C)
c.406G>C (p.Asp136His)
c.*452G>C (n.*452G>C)
c.496G>C (p.Asp166His)
c.255+1717G>C (n.255+1717G>C)
c.337+404G>C (n.337+404G>C)
c.514G>C (p.Asp172His)
c.448+404G>C (n.448+404G>C)
c.520G>C (p.Asp174His)
c.466G>C (p.Asp156His)
c.544G>C (p.Asp182His)
15g.74893206G=CA2187897271MPIc.556G= (p.Asp186=)
c.487+404G= (n.487+404G=)
c.406G= (p.Asp136=)
c.*452G= (n.*452G=)
c.496G= (p.Asp166=)
c.255+1717G= (n.255+1717G=)
c.337+404G= (n.337+404G=)
c.514G= (p.Asp172=)
c.448+404G= (n.448+404G=)
c.520G= (p.Asp174=)
c.466G= (p.Asp156=)
c.544G= (p.Asp182=)
15g.74893206G>TCA7662462MPIc.556G>T (p.Asp186Tyr)
c.487+404G>T (n.487+404G>T)
c.406G>T (p.Asp136Tyr)
c.*452G>T (n.*452G>T)
c.496G>T (p.Asp166Tyr)
c.255+1717G>T (n.255+1717G>T)
c.337+404G>T (n.337+404G>T)
c.514G>T (p.Asp172Tyr)
c.448+404G>T (n.448+404G>T)
c.520G>T (p.Asp174Tyr)
c.466G>T (p.Asp156Tyr)
c.544G>T (p.Asp182Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893207A>CCA393174449MPIc.557A>C (p.Asp186Ala)
c.487+405A>C (n.487+405A>C)
c.407A>C (p.Asp136Ala)
c.*453A>C (n.*453A>C)
c.497A>C (p.Asp166Ala)
c.255+1718A>C (n.255+1718A>C)
c.337+405A>C (n.337+405A>C)
c.515A>C (p.Asp172Ala)
c.448+405A>C (n.448+405A>C)
c.521A>C (p.Asp174Ala)
c.467A>C (p.Asp156Ala)
c.545A>C (p.Asp182Ala)
15g.74893207A>GCA393174455MPIc.557A>G (p.Asp186Gly)
c.487+405A>G (n.487+405A>G)
c.407A>G (p.Asp136Gly)
c.*453A>G (n.*453A>G)
c.497A>G (p.Asp166Gly)
c.255+1718A>G (n.255+1718A>G)
c.337+405A>G (n.337+405A>G)
c.515A>G (p.Asp172Gly)
c.448+405A>G (n.448+405A>G)
c.521A>G (p.Asp174Gly)
c.467A>G (p.Asp156Gly)
c.545A>G (p.Asp182Gly)
15g.74893207A>TCA393174452MPIc.557A>T (p.Asp186Val)
c.487+405A>T (n.487+405A>T)
c.407A>T (p.Asp136Val)
c.*453A>T (n.*453A>T)
c.497A>T (p.Asp166Val)
c.255+1718A>T (n.255+1718A>T)
c.337+405A>T (n.337+405A>T)
c.515A>T (p.Asp172Val)
c.448+405A>T (n.448+405A>T)
c.521A>T (p.Asp174Val)
c.467A>T (p.Asp156Val)
c.545A>T (p.Asp182Val)
15g.74893208C>ACA393174457MPIc.558C>A (p.Asp186Glu)
c.487+406C>A (n.487+406C>A)
c.408C>A (p.Asp136Glu)
c.*454C>A (n.*454C>A)
c.498C>A (p.Asp166Glu)
c.255+1719C>A (n.255+1719C>A)
c.337+406C>A (n.337+406C>A)
c.516C>A (p.Asp172Glu)
c.448+406C>A (n.448+406C>A)
c.522C>A (p.Asp174Glu)
c.468C>A (p.Asp156Glu)
c.546C>A (p.Asp182Glu)
 gnomAD v4
15g.74893208C>GCA393174459MPIc.558C>G (p.Asp186Glu)
c.487+406C>G (n.487+406C>G)
c.408C>G (p.Asp136Glu)
c.*454C>G (n.*454C>G)
c.498C>G (p.Asp166Glu)
c.255+1719C>G (n.255+1719C>G)
c.337+406C>G (n.337+406C>G)
c.516C>G (p.Asp172Glu)
c.448+406C>G (n.448+406C>G)
c.522C>G (p.Asp174Glu)
c.468C>G (p.Asp156Glu)
c.546C>G (p.Asp182Glu)
15g.74893208C>TCA491491292MPIc.558C>T (p.Asp186=)
c.487+406C>T (n.487+406C>T)
c.408C>T (p.Asp136=)
c.*454C>T (n.*454C>T)
c.498C>T (p.Asp166=)
c.255+1719C>T (n.255+1719C>T)
c.337+406C>T (n.337+406C>T)
c.516C>T (p.Asp172=)
c.448+406C>T (n.448+406C>T)
c.522C>T (p.Asp174=)
c.468C>T (p.Asp156=)
c.546C>T (p.Asp182=)
15g.74893209T>ACA393174462MPIc.559T>A (p.Ser187Thr)
c.487+407T>A (n.487+407T>A)
c.409T>A (p.Ser137Thr)
c.*455T>A (n.*455T>A)
c.499T>A (p.Ser167Thr)
c.255+1720T>A (n.255+1720T>A)
c.337+407T>A (n.337+407T>A)
c.517T>A (p.Ser173Thr)
c.448+407T>A (n.448+407T>A)
c.523T>A (p.Ser175Thr)
c.469T>A (p.Ser157Thr)
c.547T>A (p.Ser183Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.74893209T>CCA393174465MPIc.559T>C (p.Ser187Pro)
c.487+407T>C (n.487+407T>C)
c.409T>C (p.Ser137Pro)
c.*455T>C (n.*455T>C)
c.499T>C (p.Ser167Pro)
c.255+1720T>C (n.255+1720T>C)
c.337+407T>C (n.337+407T>C)
c.517T>C (p.Ser173Pro)
c.448+407T>C (n.448+407T>C)
c.523T>C (p.Ser175Pro)
c.469T>C (p.Ser157Pro)
c.547T>C (p.Ser183Pro)
15g.74893209T>GCA393174468MPIc.559T>G (p.Ser187Ala)
c.487+407T>G (n.487+407T>G)
c.409T>G (p.Ser137Ala)
c.*455T>G (n.*455T>G)
c.499T>G (p.Ser167Ala)
c.255+1720T>G (n.255+1720T>G)
c.337+407T>G (n.337+407T>G)
c.517T>G (p.Ser173Ala)
c.448+407T>G (n.448+407T>G)
c.523T>G (p.Ser175Ala)
c.469T>G (p.Ser157Ala)
c.547T>G (p.Ser183Ala)
15g.74893209T=CA2187897273MPIc.559T= (p.Ser187=)
c.487+407T= (n.487+407T=)
c.409T= (p.Ser137=)
c.*455T= (n.*455T=)
c.499T= (p.Ser167=)
c.255+1720T= (n.255+1720T=)
c.337+407T= (n.337+407T=)
c.517T= (p.Ser173=)
c.448+407T= (n.448+407T=)
c.523T= (p.Ser175=)
c.469T= (p.Ser157=)
c.547T= (p.Ser183=)
15g.74893210C>ACA393174471MPIc.560C>A (p.Ser187Tyr)
c.487+408C>A (n.487+408C>A)
c.410C>A (p.Ser137Tyr)
c.*456C>A (n.*456C>A)
c.500C>A (p.Ser167Tyr)
c.255+1721C>A (n.255+1721C>A)
c.337+408C>A (n.337+408C>A)
c.518C>A (p.Ser173Tyr)
c.448+408C>A (n.448+408C>A)
c.524C>A (p.Ser175Tyr)
c.470C>A (p.Ser157Tyr)
c.548C>A (p.Ser183Tyr)
15g.74893210C=CA2187897275MPIc.560C= (p.Ser187=)
c.487+408C= (n.487+408C=)
c.410C= (p.Ser137=)
c.*456C= (n.*456C=)
c.500C= (p.Ser167=)
c.255+1721C= (n.255+1721C=)
c.337+408C= (n.337+408C=)
c.518C= (p.Ser173=)
c.448+408C= (n.448+408C=)
c.524C= (p.Ser175=)
c.470C= (p.Ser157=)
c.548C= (p.Ser183=)
15g.74893210C>GCA393174473MPIc.560C>G (p.Ser187Cys)
c.487+408C>G (n.487+408C>G)
c.410C>G (p.Ser137Cys)
c.*456C>G (n.*456C>G)
c.500C>G (p.Ser167Cys)
c.255+1721C>G (n.255+1721C>G)
c.337+408C>G (n.337+408C>G)
c.518C>G (p.Ser173Cys)
c.448+408C>G (n.448+408C>G)
c.524C>G (p.Ser175Cys)
c.470C>G (p.Ser157Cys)
c.548C>G (p.Ser183Cys)
15g.74893210C>TCA272823551MPIc.560C>T (p.Ser187Phe)
c.487+408C>T (n.487+408C>T)
c.410C>T (p.Ser137Phe)
c.*456C>T (n.*456C>T)
c.500C>T (p.Ser167Phe)
c.255+1721C>T (n.255+1721C>T)
c.337+408C>T (n.337+408C>T)
c.518C>T (p.Ser173Phe)
c.448+408C>T (n.448+408C>T)
c.524C>T (p.Ser175Phe)
c.470C>T (p.Ser157Phe)
c.548C>T (p.Ser183Phe)
 dbSNP gnomAD v4
15g.74893211C>ACA491491293MPIc.561C>A (p.Ser187=)
c.487+409C>A (n.487+409C>A)
c.411C>A (p.Ser137=)
c.*457C>A (n.*457C>A)
c.501C>A (p.Ser167=)
c.255+1722C>A (n.255+1722C>A)
c.337+409C>A (n.337+409C>A)
c.519C>A (p.Ser173=)
c.448+409C>A (n.448+409C>A)
c.525C>A (p.Ser175=)
c.471C>A (p.Ser157=)
c.549C>A (p.Ser183=)
15g.74893211C>GCA491491294MPIc.561C>G (p.Ser187=)
c.487+409C>G (n.487+409C>G)
c.411C>G (p.Ser137=)
c.*457C>G (n.*457C>G)
c.501C>G (p.Ser167=)
c.255+1722C>G (n.255+1722C>G)
c.337+409C>G (n.337+409C>G)
c.519C>G (p.Ser173=)
c.448+409C>G (n.448+409C>G)
c.525C>G (p.Ser175=)
c.471C>G (p.Ser157=)
c.549C>G (p.Ser183=)
15g.74893211C>TCA491491295MPIc.561C>T (p.Ser187=)
c.487+409C>T (n.487+409C>T)
c.411C>T (p.Ser137=)
c.*457C>T (n.*457C>T)
c.501C>T (p.Ser167=)
c.255+1722C>T (n.255+1722C>T)
c.337+409C>T (n.337+409C>T)
c.519C>T (p.Ser173=)
c.448+409C>T (n.448+409C>T)
c.525C>T (p.Ser175=)
c.471C>T (p.Ser157=)
c.549C>T (p.Ser183=)
15g.74893212C>ACA393174478MPIc.562C>A (p.Gln188Lys)
c.487+410C>A (n.487+410C>A)
c.412C>A (p.Gln138Lys)
c.*458C>A (n.*458C>A)
c.502C>A (p.Gln168Lys)
c.255+1723C>A (n.255+1723C>A)
c.337+410C>A (n.337+410C>A)
c.520C>A (p.Gln174Lys)
c.448+410C>A (n.448+410C>A)
c.526C>A (p.Gln176Lys)
c.472C>A (p.Gln158Lys)
c.550C>A (p.Gln184Lys)
15g.74893212C>GCA393174484MPIc.562C>G (p.Gln188Glu)
c.487+410C>G (n.487+410C>G)
c.412C>G (p.Gln138Glu)
c.*458C>G (n.*458C>G)
c.502C>G (p.Gln168Glu)
c.255+1723C>G (n.255+1723C>G)
c.337+410C>G (n.337+410C>G)
c.520C>G (p.Gln174Glu)
c.448+410C>G (n.448+410C>G)
c.526C>G (p.Gln176Glu)
c.472C>G (p.Gln158Glu)
c.550C>G (p.Gln184Glu)
15g.74893212C>TCA393174481MPIc.562C>T (p.Gln188Ter)
c.487+410C>T (n.487+410C>T)
c.412C>T (p.Gln138Ter)
c.*458C>T (n.*458C>T)
c.502C>T (p.Gln168Ter)
c.255+1723C>T (n.255+1723C>T)
c.337+410C>T (n.337+410C>T)
c.520C>T (p.Gln174Ter)
c.448+410C>T (n.448+410C>T)
c.526C>T (p.Gln176Ter)
c.472C>T (p.Gln158Ter)
c.550C>T (p.Gln184Ter)
15g.74893213A=CA2187897279MPIc.563A= (p.Gln188=)
c.487+411A= (n.487+411A=)
c.413A= (p.Gln138=)
c.*459A= (n.*459A=)
c.503A= (p.Gln168=)
c.255+1724A= (n.255+1724A=)
c.337+411A= (n.337+411A=)
c.521A= (p.Gln174=)
c.448+411A= (n.448+411A=)
c.527A= (p.Gln176=)
c.473A= (p.Gln158=)
c.551A= (p.Gln184=)
15g.74893213A>CCA393174487MPIc.563A>C (p.Gln188Pro)
c.487+411A>C (n.487+411A>C)
c.413A>C (p.Gln138Pro)
c.*459A>C (n.*459A>C)
c.503A>C (p.Gln168Pro)
c.255+1724A>C (n.255+1724A>C)
c.337+411A>C (n.337+411A>C)
c.521A>C (p.Gln174Pro)
c.448+411A>C (n.448+411A>C)
c.527A>C (p.Gln176Pro)
c.473A>C (p.Gln158Pro)
c.551A>C (p.Gln184Pro)
15g.74893213A>GCA7662463MPIc.563A>G (p.Gln188Arg)
c.487+411A>G (n.487+411A>G)
c.413A>G (p.Gln138Arg)
c.*459A>G (n.*459A>G)
c.503A>G (p.Gln168Arg)
c.255+1724A>G (n.255+1724A>G)
c.337+411A>G (n.337+411A>G)
c.521A>G (p.Gln174Arg)
c.448+411A>G (n.448+411A>G)
c.527A>G (p.Gln176Arg)
c.473A>G (p.Gln158Arg)
c.551A>G (p.Gln184Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74893213A>TCA393174489MPIc.563A>T (p.Gln188Leu)
c.487+411A>T (n.487+411A>T)
c.413A>T (p.Gln138Leu)
c.*459A>T (n.*459A>T)
c.503A>T (p.Gln168Leu)
c.255+1724A>T (n.255+1724A>T)
c.337+411A>T (n.337+411A>T)
c.521A>T (p.Gln174Leu)
c.448+411A>T (n.448+411A>T)
c.527A>T (p.Gln176Leu)
c.473A>T (p.Gln158Leu)
c.551A>T (p.Gln184Leu)
15g.74893214G>ACA491491296MPIc.564G>A (p.Gln188=)
c.487+412G>A (n.487+412G>A)
c.414G>A (p.Gln138=)
c.*460G>A (n.*460G>A)
c.504G>A (p.Gln168=)
c.255+1725G>A (n.255+1725G>A)
c.337+412G>A (n.337+412G>A)
c.522G>A (p.Gln174=)
c.448+412G>A (n.448+412G>A)
c.528G>A (p.Gln176=)
c.474G>A (p.Gln158=)
c.552G>A (p.Gln184=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74893214G>CCA393174490MPIc.564G>C (p.Gln188His)
c.487+412G>C (n.487+412G>C)
c.414G>C (p.Gln138His)
c.*460G>C (n.*460G>C)
c.504G>C (p.Gln168His)
c.255+1725G>C (n.255+1725G>C)
c.337+412G>C (n.337+412G>C)
c.522G>C (p.Gln174His)
c.448+412G>C (n.448+412G>C)
c.528G>C (p.Gln176His)
c.474G>C (p.Gln158His)
c.552G>C (p.Gln184His)
15g.74893214G=CA2187897280MPIc.564G= (p.Gln188=)
c.487+412G= (n.487+412G=)
c.414G= (p.Gln138=)
c.*460G= (n.*460G=)
c.504G= (p.Gln168=)
c.255+1725G= (n.255+1725G=)
c.337+412G= (n.337+412G=)
c.522G= (p.Gln174=)
c.448+412G= (n.448+412G=)
c.528G= (p.Gln176=)
c.474G= (p.Gln158=)
c.552G= (p.Gln184=)
15g.74893214G>TCA393174491MPIc.564G>T (p.Gln188His)
c.487+412G>T (n.487+412G>T)
c.414G>T (p.Gln138His)
c.*460G>T (n.*460G>T)
c.504G>T (p.Gln168His)
c.255+1725G>T (n.255+1725G>T)
c.337+412G>T (n.337+412G>T)
c.522G>T (p.Gln174His)
c.448+412G>T (n.448+412G>T)
c.528G>T (p.Gln176His)
c.474G>T (p.Gln158His)
c.552G>T (p.Gln184His)

Number of alleles fetched