Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74896279G>ACA491491437MPIc.798G>A (p.Glu266=)
c.615G>A (p.Glu205=)
c.648G>A (p.Glu216=)
c.738G>A (p.Glu246=)
c.256-1260G>A (n.256-1260G>A)
c.465G>A (p.Glu155=)
n.846G>A
c.576G>A (p.Glu192=)
c.786G>A (p.Glu262=)
15g.74896279G>CCA393176029MPIc.798G>C (p.Glu266Asp)
c.615G>C (p.Glu205Asp)
c.648G>C (p.Glu216Asp)
c.738G>C (p.Glu246Asp)
c.256-1260G>C (n.256-1260G>C)
c.465G>C (p.Glu155Asp)
n.846G>C
c.576G>C (p.Glu192Asp)
c.786G>C (p.Glu262Asp)
15g.74896279G>TCA393176030MPIc.798G>T (p.Glu266Asp)
c.615G>T (p.Glu205Asp)
c.648G>T (p.Glu216Asp)
c.738G>T (p.Glu246Asp)
c.256-1260G>T (n.256-1260G>T)
c.465G>T (p.Glu155Asp)
n.846G>T
c.576G>T (p.Glu192Asp)
c.786G>T (p.Glu262Asp)
15g.74896280G>ACA393176031MPIc.799G>A (p.Ala267Thr)
c.616G>A (p.Ala206Thr)
c.649G>A (p.Ala217Thr)
c.739G>A (p.Ala247Thr)
c.256-1259G>A (n.256-1259G>A)
c.466G>A (p.Ala156Thr)
n.847G>A
c.577G>A (p.Ala193Thr)
c.787G>A (p.Ala263Thr)
15g.74896280G>CCA393176032MPIc.799G>C (p.Ala267Pro)
c.616G>C (p.Ala206Pro)
c.649G>C (p.Ala217Pro)
c.739G>C (p.Ala247Pro)
c.256-1259G>C (n.256-1259G>C)
c.466G>C (p.Ala156Pro)
n.847G>C
c.577G>C (p.Ala193Pro)
c.787G>C (p.Ala263Pro)
gnomAD v4
15g.74896280G>TCA393176033MPIc.799G>T (p.Ala267Ser)
c.616G>T (p.Ala206Ser)
c.649G>T (p.Ala217Ser)
c.739G>T (p.Ala247Ser)
c.256-1259G>T (n.256-1259G>T)
c.466G>T (p.Ala156Ser)
n.847G>T
c.577G>T (p.Ala193Ser)
c.787G>T (p.Ala263Ser)
15g.74896281C>ACA393176034MPIc.800C>A (p.Ala267Asp)
c.617C>A (p.Ala206Asp)
c.650C>A (p.Ala217Asp)
c.740C>A (p.Ala247Asp)
c.256-1258C>A (n.256-1258C>A)
c.467C>A (p.Ala156Asp)
n.848C>A
c.578C>A (p.Ala193Asp)
c.788C>A (p.Ala263Asp)
15g.74896281C>GCA393176036MPIc.800C>G (p.Ala267Gly)
c.617C>G (p.Ala206Gly)
c.650C>G (p.Ala217Gly)
c.740C>G (p.Ala247Gly)
c.256-1258C>G (n.256-1258C>G)
c.467C>G (p.Ala156Gly)
n.848C>G
c.578C>G (p.Ala193Gly)
c.788C>G (p.Ala263Gly)
15g.74896281C>TCA393176035MPIc.800C>T (p.Ala267Val)
c.617C>T (p.Ala206Val)
c.650C>T (p.Ala217Val)
c.740C>T (p.Ala247Val)
c.256-1258C>T (n.256-1258C>T)
c.467C>T (p.Ala156Val)
n.848C>T
c.578C>T (p.Ala193Val)
c.788C>T (p.Ala263Val)
gnomAD v4
15g.74896282C>ACA491491438MPIc.801C>A (p.Ala267=)
c.618C>A (p.Ala206=)
c.651C>A (p.Ala217=)
c.741C>A (p.Ala247=)
c.256-1257C>A (n.256-1257C>A)
c.468C>A (p.Ala156=)
n.849C>A
c.579C>A (p.Ala193=)
c.789C>A (p.Ala263=)
15g.74896282C>GCA491491439MPIc.801C>G (p.Ala267=)
c.618C>G (p.Ala206=)
c.651C>G (p.Ala217=)
c.741C>G (p.Ala247=)
c.256-1257C>G (n.256-1257C>G)
c.468C>G (p.Ala156=)
n.849C>G
c.579C>G (p.Ala193=)
c.789C>G (p.Ala263=)
15g.74896282C>TCA491491440MPIc.801C>T (p.Ala267=)
c.618C>T (p.Ala206=)
c.651C>T (p.Ala217=)
c.741C>T (p.Ala247=)
c.256-1257C>T (n.256-1257C>T)
c.468C>T (p.Ala156=)
n.849C>T
c.579C>T (p.Ala193=)
c.789C>T (p.Ala263=)
15g.74896282_74896284delCA912992716MPIc.801_803del (p.Met268del)
c.618_620del (p.Met207del)
c.651_653del (p.Met218del)
c.741_743del (p.Met248del)
c.256-1257_256-1255del (n.256-1257_256-1255del)
c.468_470del (p.Met157del)
n.849_851del
c.579_581del (p.Met194del)
c.789_791del (p.Met264del)
15g.74896282_74896284delinsCATCA2187901935MPIc.801_803delinsCAT (p.Ala267=)
c.618_620delinsCAT (p.Ala206=)
c.651_653delinsCAT (p.Ala217=)
c.741_743delinsCAT (p.Ala247=)
c.256-1257_256-1255delinsCAT (n.256-1257_256-1255delinsCAT)
c.468_470delinsCAT (p.Ala156=)
n.849_851delinsCAT
c.579_581delinsCAT (p.Ala193=)
c.789_791delinsCAT (p.Ala263=)
15g.74896283A=CA2187901942MPIc.802A= (p.Met268=)
c.619A= (p.Met207=)
c.652A= (p.Met218=)
c.742A= (p.Met248=)
c.256-1256A= (n.256-1256A=)
c.469A= (p.Met157=)
n.850A=
c.580A= (p.Met194=)
c.790A= (p.Met264=)
15g.74896283A>CCA393176037MPIc.802A>C (p.Met268Leu)
c.619A>C (p.Met207Leu)
c.652A>C (p.Met218Leu)
c.742A>C (p.Met248Leu)
c.256-1256A>C (n.256-1256A>C)
c.469A>C (p.Met157Leu)
n.850A>C
c.580A>C (p.Met194Leu)
c.790A>C (p.Met264Leu)
15g.74896283A>GCA7662544MPIc.802A>G (p.Met268Val)
c.619A>G (p.Met207Val)
c.652A>G (p.Met218Val)
c.742A>G (p.Met248Val)
c.256-1256A>G (n.256-1256A>G)
c.469A>G (p.Met157Val)
n.850A>G
c.580A>G (p.Met194Val)
c.790A>G (p.Met264Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896283A>TCA393176038MPIc.802A>T (p.Met268Leu)
c.619A>T (p.Met207Leu)
c.652A>T (p.Met218Leu)
c.742A>T (p.Met248Leu)
c.256-1256A>T (n.256-1256A>T)
c.469A>T (p.Met157Leu)
n.850A>T
c.580A>T (p.Met194Leu)
c.790A>T (p.Met264Leu)
15g.74896283_74896284delCA658824073MPIc.802_803del (p.Met268ValfsTer?)
c.619_620del (p.Met207ValfsTer?)
c.652_653del (p.Met218ValfsTer?)
c.742_743del (p.Met248ValfsTer15)
c.256-1256_256-1255del (n.256-1256_256-1255del)
c.802_803del (p.Met268ValfsTer15)
c.742_743del (p.Met248ValfsTer?)
c.469_470del (p.Met157ValfsTer15)
n.850_851del
c.580_581del (p.Met194ValfsTer?)
c.790_791del (p.Met264ValfsTer?)
ClinVar dbSNP
15g.74896284T>ACA393176039MPIc.803T>A (p.Met268Lys)
c.620T>A (p.Met207Lys)
c.653T>A (p.Met218Lys)
c.743T>A (p.Met248Lys)
c.256-1255T>A (n.256-1255T>A)
c.470T>A (p.Met157Lys)
n.851T>A
c.581T>A (p.Met194Lys)
c.791T>A (p.Met264Lys)
15g.74896284T>CCA393176040MPIc.803T>C (p.Met268Thr)
c.620T>C (p.Met207Thr)
c.653T>C (p.Met218Thr)
c.743T>C (p.Met248Thr)
c.256-1255T>C (n.256-1255T>C)
c.470T>C (p.Met157Thr)
n.851T>C
c.581T>C (p.Met194Thr)
c.791T>C (p.Met264Thr)
dbSNP gnomAD v4
15g.74896284T>GCA393176041MPIc.803T>G (p.Met268Arg)
c.620T>G (p.Met207Arg)
c.653T>G (p.Met218Arg)
c.743T>G (p.Met248Arg)
c.256-1255T>G (n.256-1255T>G)
c.470T>G (p.Met157Arg)
n.851T>G
c.581T>G (p.Met194Arg)
c.791T>G (p.Met264Arg)
15g.74896284T=CA2187901946MPIc.803T= (p.Met268=)
c.620T= (p.Met207=)
c.653T= (p.Met218=)
c.743T= (p.Met248=)
c.256-1255T= (n.256-1255T=)
c.470T= (p.Met157=)
n.851T=
c.581T= (p.Met194=)
c.791T= (p.Met264=)
15g.74896285G>ACA393176042MPIc.804G>A (p.Met268Ile)
c.621G>A (p.Met207Ile)
c.654G>A (p.Met218Ile)
c.744G>A (p.Met248Ile)
c.256-1254G>A (n.256-1254G>A)
c.471G>A (p.Met157Ile)
n.852G>A
c.582G>A (p.Met194Ile)
c.792G>A (p.Met264Ile)
15g.74896285G>CCA393176043MPIc.804G>C (p.Met268Ile)
c.621G>C (p.Met207Ile)
c.654G>C (p.Met218Ile)
c.744G>C (p.Met248Ile)
c.256-1254G>C (n.256-1254G>C)
c.471G>C (p.Met157Ile)
n.852G>C
c.582G>C (p.Met194Ile)
c.792G>C (p.Met264Ile)
15g.74896285G>TCA393176044MPIc.804G>T (p.Met268Ile)
c.621G>T (p.Met207Ile)
c.654G>T (p.Met218Ile)
c.744G>T (p.Met248Ile)
c.256-1254G>T (n.256-1254G>T)
c.471G>T (p.Met157Ile)
n.852G>T
c.582G>T (p.Met194Ile)
c.792G>T (p.Met264Ile)
15g.74896286T>ACA393176046MPIc.805T>A (p.Phe269Ile)
c.622T>A (p.Phe208Ile)
c.655T>A (p.Phe219Ile)
c.745T>A (p.Phe249Ile)
c.256-1253T>A (n.256-1253T>A)
c.472T>A (p.Phe158Ile)
n.853T>A
c.583T>A (p.Phe195Ile)
c.793T>A (p.Phe265Ile)
15g.74896286T>CCA393176047MPIc.805T>C (p.Phe269Leu)
c.622T>C (p.Phe208Leu)
c.655T>C (p.Phe219Leu)
c.745T>C (p.Phe249Leu)
c.256-1253T>C (n.256-1253T>C)
c.472T>C (p.Phe158Leu)
n.853T>C
c.583T>C (p.Phe195Leu)
c.793T>C (p.Phe265Leu)
15g.74896286T>GCA393176045MPIc.805T>G (p.Phe269Val)
c.622T>G (p.Phe208Val)
c.655T>G (p.Phe219Val)
c.745T>G (p.Phe249Val)
c.256-1253T>G (n.256-1253T>G)
c.472T>G (p.Phe158Val)
n.853T>G
c.583T>G (p.Phe195Val)
c.793T>G (p.Phe265Val)
15g.74896287T>ACA393176048MPIc.806T>A (p.Phe269Tyr)
c.623T>A (p.Phe208Tyr)
c.656T>A (p.Phe219Tyr)
c.746T>A (p.Phe249Tyr)
c.256-1252T>A (n.256-1252T>A)
c.473T>A (p.Phe158Tyr)
n.854T>A
c.584T>A (p.Phe195Tyr)
c.794T>A (p.Phe265Tyr)
15g.74896287T>CCA393176049MPIc.806T>C (p.Phe269Ser)
c.623T>C (p.Phe208Ser)
c.656T>C (p.Phe219Ser)
c.746T>C (p.Phe249Ser)
c.256-1252T>C (n.256-1252T>C)
c.473T>C (p.Phe158Ser)
n.854T>C
c.584T>C (p.Phe195Ser)
c.794T>C (p.Phe265Ser)
gnomAD v4
15g.74896287T>GCA393176050MPIc.806T>G (p.Phe269Cys)
c.623T>G (p.Phe208Cys)
c.656T>G (p.Phe219Cys)
c.746T>G (p.Phe249Cys)
c.256-1252T>G (n.256-1252T>G)
c.473T>G (p.Phe158Cys)
n.854T>G
c.584T>G (p.Phe195Cys)
c.794T>G (p.Phe265Cys)
15g.74896288T>ACA393176051MPIc.807T>A (p.Phe269Leu)
c.624T>A (p.Phe208Leu)
c.657T>A (p.Phe219Leu)
c.747T>A (p.Phe249Leu)
c.256-1251T>A (n.256-1251T>A)
c.474T>A (p.Phe158Leu)
n.855T>A
c.585T>A (p.Phe195Leu)
c.795T>A (p.Phe265Leu)
15g.74896288T>CCA491491441MPIc.807T>C (p.Phe269=)
c.624T>C (p.Phe208=)
c.657T>C (p.Phe219=)
c.747T>C (p.Phe249=)
c.256-1251T>C (n.256-1251T>C)
c.474T>C (p.Phe158=)
n.855T>C
c.585T>C (p.Phe195=)
c.795T>C (p.Phe265=)
15g.74896288T>GCA393176052MPIc.807T>G (p.Phe269Leu)
c.624T>G (p.Phe208Leu)
c.657T>G (p.Phe219Leu)
c.747T>G (p.Phe249Leu)
c.256-1251T>G (n.256-1251T>G)
c.474T>G (p.Phe158Leu)
n.855T>G
c.585T>G (p.Phe195Leu)
c.795T>G (p.Phe265Leu)
15g.74896289C>ACA393176054MPIc.808C>A (p.Leu270Met)
c.625C>A (p.Leu209Met)
c.658C>A (p.Leu220Met)
c.748C>A (p.Leu250Met)
c.256-1250C>A (n.256-1250C>A)
c.475C>A (p.Leu159Met)
n.856C>A
c.586C>A (p.Leu196Met)
c.796C>A (p.Leu266Met)
15g.74896289C>GCA393176053MPIc.808C>G (p.Leu270Val)
c.625C>G (p.Leu209Val)
c.658C>G (p.Leu220Val)
c.748C>G (p.Leu250Val)
c.256-1250C>G (n.256-1250C>G)
c.475C>G (p.Leu159Val)
n.856C>G
c.586C>G (p.Leu196Val)
c.796C>G (p.Leu266Val)
15g.74896289C>TCA491491442MPIc.808C>T (p.Leu270=)
c.625C>T (p.Leu209=)
c.658C>T (p.Leu220=)
c.748C>T (p.Leu250=)
c.256-1250C>T (n.256-1250C>T)
c.475C>T (p.Leu159=)
n.856C>T
c.586C>T (p.Leu196=)
c.796C>T (p.Leu266=)
15g.74896290T>ACA393176055MPIc.809T>A (p.Leu270Gln)
c.626T>A (p.Leu209Gln)
c.659T>A (p.Leu220Gln)
c.749T>A (p.Leu250Gln)
c.256-1249T>A (n.256-1249T>A)
c.476T>A (p.Leu159Gln)
n.857T>A
c.587T>A (p.Leu196Gln)
c.797T>A (p.Leu266Gln)
15g.74896290T>CCA272825513MPIc.809T>C (p.Leu270Pro)
c.626T>C (p.Leu209Pro)
c.659T>C (p.Leu220Pro)
c.749T>C (p.Leu250Pro)
c.256-1249T>C (n.256-1249T>C)
c.476T>C (p.Leu159Pro)
n.857T>C
c.587T>C (p.Leu196Pro)
c.797T>C (p.Leu266Pro)
dbSNP gnomAD v2 gnomAD v4
15g.74896290T>GCA393176056MPIc.809T>G (p.Leu270Arg)
c.626T>G (p.Leu209Arg)
c.659T>G (p.Leu220Arg)
c.749T>G (p.Leu250Arg)
c.256-1249T>G (n.256-1249T>G)
c.476T>G (p.Leu159Arg)
n.857T>G
c.587T>G (p.Leu196Arg)
c.797T>G (p.Leu266Arg)
15g.74896290T=CA2187901949MPIc.809T= (p.Leu270=)
c.626T= (p.Leu209=)
c.659T= (p.Leu220=)
c.749T= (p.Leu250=)
c.256-1249T= (n.256-1249T=)
c.476T= (p.Leu159=)
n.857T=
c.587T= (p.Leu196=)
c.797T= (p.Leu266=)
15g.74896291G>ACA491491443MPIc.810G>A (p.Leu270=)
c.627G>A (p.Leu209=)
c.660G>A (p.Leu220=)
c.750G>A (p.Leu250=)
c.256-1248G>A (n.256-1248G>A)
c.477G>A (p.Leu159=)
n.858G>A
c.588G>A (p.Leu196=)
c.798G>A (p.Leu266=)
ClinVar
15g.74896291G>CCA491491444MPIc.810G>C (p.Leu270=)
c.627G>C (p.Leu209=)
c.660G>C (p.Leu220=)
c.750G>C (p.Leu250=)
c.256-1248G>C (n.256-1248G>C)
c.477G>C (p.Leu159=)
n.858G>C
c.588G>C (p.Leu196=)
c.798G>C (p.Leu266=)
ClinVar dbSNP gnomAD v4
15g.74896291G>TCA491491445MPIc.810G>T (p.Leu270=)
c.627G>T (p.Leu209=)
c.660G>T (p.Leu220=)
c.750G>T (p.Leu250=)
c.256-1248G>T (n.256-1248G>T)
c.477G>T (p.Leu159=)
n.858G>T
c.588G>T (p.Leu196=)
c.798G>T (p.Leu266=)
15g.74896292delCA2629530697MPIc.811del (p.Glu271ArgfsTer9)
c.628del (p.Glu210ArgfsTer9)
c.661del (p.Glu221ArgfsTer9)
c.751del (p.Glu251ArgfsTer9)
c.256-1247del (n.256-1247del)
c.478del (p.Glu160ArgfsTer9)
n.859del
c.589del (p.Glu197ArgfsTer9)
c.799del (p.Glu267ArgfsTer9)
gnomAD v4
15g.74896292G>ACA393176057MPIc.811G>A (p.Glu271Lys)
c.628G>A (p.Glu210Lys)
c.661G>A (p.Glu221Lys)
c.751G>A (p.Glu251Lys)
c.256-1247G>A (n.256-1247G>A)
c.478G>A (p.Glu160Lys)
n.859G>A
c.589G>A (p.Glu197Lys)
c.799G>A (p.Glu267Lys)
dbSNP gnomAD v3 gnomAD v4
15g.74896292G>CCA393176058MPIc.811G>C (p.Glu271Gln)
c.628G>C (p.Glu210Gln)
c.661G>C (p.Glu221Gln)
c.751G>C (p.Glu251Gln)
c.256-1247G>C (n.256-1247G>C)
c.478G>C (p.Glu160Gln)
n.859G>C
c.589G>C (p.Glu197Gln)
c.799G>C (p.Glu267Gln)
15g.74896292G=CA2187901954MPIc.811G= (p.Glu271=)
c.628G= (p.Glu210=)
c.661G= (p.Glu221=)
c.751G= (p.Glu251=)
c.256-1247G= (n.256-1247G=)
c.478G= (p.Glu160=)
n.859G=
c.589G= (p.Glu197=)
c.799G= (p.Glu267=)
15g.74896292G>TCA393176059MPIc.811G>T (p.Glu271Ter)
c.628G>T (p.Glu210Ter)
c.661G>T (p.Glu221Ter)
c.751G>T (p.Glu251Ter)
c.256-1247G>T (n.256-1247G>T)
c.478G>T (p.Glu160Ter)
n.859G>T
c.589G>T (p.Glu197Ter)
c.799G>T (p.Glu267Ter)
15g.74896293A>CCA393176060MPIc.812A>C (p.Glu271Ala)
c.629A>C (p.Glu210Ala)
c.662A>C (p.Glu221Ala)
c.752A>C (p.Glu251Ala)
c.256-1246A>C (n.256-1246A>C)
c.479A>C (p.Glu160Ala)
n.860A>C
c.590A>C (p.Glu197Ala)
c.800A>C (p.Glu267Ala)
15g.74896293A>GCA393176062MPIc.812A>G (p.Glu271Gly)
c.629A>G (p.Glu210Gly)
c.662A>G (p.Glu221Gly)
c.752A>G (p.Glu251Gly)
c.256-1246A>G (n.256-1246A>G)
c.479A>G (p.Glu160Gly)
n.860A>G
c.590A>G (p.Glu197Gly)
c.800A>G (p.Glu267Gly)
15g.74896293A>TCA393176061MPIc.812A>T (p.Glu271Val)
c.629A>T (p.Glu210Val)
c.662A>T (p.Glu221Val)
c.752A>T (p.Glu251Val)
c.256-1246A>T (n.256-1246A>T)
c.479A>T (p.Glu160Val)
n.860A>T
c.590A>T (p.Glu197Val)
c.800A>T (p.Glu267Val)
15g.74896294G>ACA491491446MPIc.813G>A (p.Glu271=)
c.630G>A (p.Glu210=)
c.663G>A (p.Glu221=)
c.753G>A (p.Glu251=)
c.256-1245G>A (n.256-1245G>A)
c.480G>A (p.Glu160=)
n.861G>A
c.591G>A (p.Glu197=)
c.801G>A (p.Glu267=)
15g.74896294G>CCA393176063MPIc.813G>C (p.Glu271Asp)
c.630G>C (p.Glu210Asp)
c.663G>C (p.Glu221Asp)
c.753G>C (p.Glu251Asp)
c.256-1245G>C (n.256-1245G>C)
c.480G>C (p.Glu160Asp)
n.861G>C
c.591G>C (p.Glu197Asp)
c.801G>C (p.Glu267Asp)
gnomAD v4
15g.74896294G>TCA393176064MPIc.813G>T (p.Glu271Asp)
c.630G>T (p.Glu210Asp)
c.663G>T (p.Glu221Asp)
c.753G>T (p.Glu251Asp)
c.256-1245G>T (n.256-1245G>T)
c.480G>T (p.Glu160Asp)
n.861G>T
c.591G>T (p.Glu197Asp)
c.801G>T (p.Glu267Asp)
15g.74896295G>ACA393176065MPIc.814G>A (p.Ala272Thr)
c.631G>A (p.Ala211Thr)
c.664G>A (p.Ala222Thr)
c.754G>A (p.Ala252Thr)
c.256-1244G>A (n.256-1244G>A)
c.481G>A (p.Ala161Thr)
n.862G>A
c.592G>A (p.Ala198Thr)
c.802G>A (p.Ala268Thr)
15g.74896295G>CCA393176066MPIc.814G>C (p.Ala272Pro)
c.631G>C (p.Ala211Pro)
c.664G>C (p.Ala222Pro)
c.754G>C (p.Ala252Pro)
c.256-1244G>C (n.256-1244G>C)
c.481G>C (p.Ala161Pro)
n.862G>C
c.592G>C (p.Ala198Pro)
c.802G>C (p.Ala268Pro)
15g.74896295G>TCA393176067MPIc.814G>T (p.Ala272Ser)
c.631G>T (p.Ala211Ser)
c.664G>T (p.Ala222Ser)
c.754G>T (p.Ala252Ser)
c.256-1244G>T (n.256-1244G>T)
c.481G>T (p.Ala161Ser)
n.862G>T
c.592G>T (p.Ala198Ser)
c.802G>T (p.Ala268Ser)
15g.74896296C>ACA393176068MPIc.815C>A (p.Ala272Asp)
c.632C>A (p.Ala211Asp)
c.665C>A (p.Ala222Asp)
c.755C>A (p.Ala252Asp)
c.256-1243C>A (n.256-1243C>A)
c.482C>A (p.Ala161Asp)
n.863C>A
c.593C>A (p.Ala198Asp)
c.803C>A (p.Ala268Asp)
15g.74896296C=CA2187901959MPIc.815C= (p.Ala272=)
c.632C= (p.Ala211=)
c.665C= (p.Ala222=)
c.755C= (p.Ala252=)
c.256-1243C= (n.256-1243C=)
c.482C= (p.Ala161=)
n.863C=
c.593C= (p.Ala198=)
c.803C= (p.Ala268=)
15g.74896296C>GCA393176069MPIc.815C>G (p.Ala272Gly)
c.632C>G (p.Ala211Gly)
c.665C>G (p.Ala222Gly)
c.755C>G (p.Ala252Gly)
c.256-1243C>G (n.256-1243C>G)
c.482C>G (p.Ala161Gly)
n.863C>G
c.593C>G (p.Ala198Gly)
c.803C>G (p.Ala268Gly)
15g.74896296C>TCA7662545MPIc.815C>T (p.Ala272Val)
c.632C>T (p.Ala211Val)
c.665C>T (p.Ala222Val)
c.755C>T (p.Ala252Val)
c.256-1243C>T (n.256-1243C>T)
c.482C>T (p.Ala161Val)
n.863C>T
c.593C>T (p.Ala198Val)
c.803C>T (p.Ala268Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896297C>ACA491491447MPIc.816C>A (p.Ala272=)
c.633C>A (p.Ala211=)
c.666C>A (p.Ala222=)
c.756C>A (p.Ala252=)
c.256-1242C>A (n.256-1242C>A)
c.483C>A (p.Ala161=)
n.864C>A
c.594C>A (p.Ala198=)
c.804C>A (p.Ala268=)
15g.74896297C=CA2187901962MPIc.816C= (p.Ala272=)
c.633C= (p.Ala211=)
c.666C= (p.Ala222=)
c.756C= (p.Ala252=)
c.256-1242C= (n.256-1242C=)
c.483C= (p.Ala161=)
n.864C=
c.594C= (p.Ala198=)
c.804C= (p.Ala268=)
15g.74896297C>GCA491491448MPIc.816C>G (p.Ala272=)
c.633C>G (p.Ala211=)
c.666C>G (p.Ala222=)
c.756C>G (p.Ala252=)
c.256-1242C>G (n.256-1242C>G)
c.483C>G (p.Ala161=)
n.864C>G
c.594C>G (p.Ala198=)
c.804C>G (p.Ala268=)
ClinVar dbSNP gnomAD v4
15g.74896297C>TCA491491449MPIc.816C>T (p.Ala272=)
c.633C>T (p.Ala211=)
c.666C>T (p.Ala222=)
c.756C>T (p.Ala252=)
c.256-1242C>T (n.256-1242C>T)
c.483C>T (p.Ala161=)
n.864C>T
c.594C>T (p.Ala198=)
c.804C>T (p.Ala268=)
15g.74896298A>CCA393176070MPIc.817A>C (p.Asn273His)
c.634A>C (p.Asn212His)
c.667A>C (p.Asn223His)
c.757A>C (p.Asn253His)
c.256-1241A>C (n.256-1241A>C)
c.484A>C (p.Asn162His)
n.865A>C
c.595A>C (p.Asn199His)
c.805A>C (p.Asn269His)
15g.74896298A>GCA393176071MPIc.817A>G (p.Asn273Asp)
c.634A>G (p.Asn212Asp)
c.667A>G (p.Asn223Asp)
c.757A>G (p.Asn253Asp)
c.256-1241A>G (n.256-1241A>G)
c.484A>G (p.Asn162Asp)
n.865A>G
c.595A>G (p.Asn199Asp)
c.805A>G (p.Asn269Asp)
15g.74896298A>TCA393176072MPIc.817A>T (p.Asn273Tyr)
c.634A>T (p.Asn212Tyr)
c.667A>T (p.Asn223Tyr)
c.757A>T (p.Asn253Tyr)
c.256-1241A>T (n.256-1241A>T)
c.484A>T (p.Asn162Tyr)
n.865A>T
c.595A>T (p.Asn199Tyr)
c.805A>T (p.Asn269Tyr)
15g.74896299A=CA2187901969MPIc.818A= (p.Asn273=)
c.635A= (p.Asn212=)
c.668A= (p.Asn223=)
c.758A= (p.Asn253=)
c.256-1240A= (n.256-1240A=)
c.485A= (p.Asn162=)
n.866A=
c.596A= (p.Asn199=)
c.806A= (p.Asn269=)
15g.74896299A>CCA393176074MPIc.818A>C (p.Asn273Thr)
c.635A>C (p.Asn212Thr)
c.668A>C (p.Asn223Thr)
c.758A>C (p.Asn253Thr)
c.256-1240A>C (n.256-1240A>C)
c.485A>C (p.Asn162Thr)
n.866A>C
c.596A>C (p.Asn199Thr)
c.806A>C (p.Asn269Thr)
15g.74896299A>GCA7662546MPIc.818A>G (p.Asn273Ser)
c.635A>G (p.Asn212Ser)
c.668A>G (p.Asn223Ser)
c.758A>G (p.Asn253Ser)
c.256-1240A>G (n.256-1240A>G)
c.485A>G (p.Asn162Ser)
n.866A>G
c.596A>G (p.Asn199Ser)
c.806A>G (p.Asn269Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896299A>TCA393176073MPIc.818A>T (p.Asn273Ile)
c.635A>T (p.Asn212Ile)
c.668A>T (p.Asn223Ile)
c.758A>T (p.Asn253Ile)
c.256-1240A>T (n.256-1240A>T)
c.485A>T (p.Asn162Ile)
n.866A>T
c.596A>T (p.Asn199Ile)
c.806A>T (p.Asn269Ile)
15g.74896299delinsTCCA2695197320MPIc.818delinsTC (p.Asn273IlefsTer?)
c.635delinsTC (p.Asn212IlefsTer?)
c.668delinsTC (p.Asn223IlefsTer?)
c.758delinsTC (p.Asn253IlefsTer11)
c.256-1240delinsTC (n.256-1240delinsTC)
c.818delinsTC (p.Asn273IlefsTer11)
c.758delinsTC (p.Asn253IlefsTer?)
c.485delinsTC (p.Asn162IlefsTer11)
c.818delinsTC (p.Asn273IlefsTer30)
n.866delinsTC
c.596delinsTC (p.Asn199IlefsTer30)
c.806delinsTC (p.Asn269IlefsTer?)
c.758delinsTC (p.Asn253IlefsTer30)
c.668delinsTC (p.Asn223IlefsTer30)
ClinVar
15g.74896300C>ACA393176075MPIc.819C>A (p.Asn273Lys)
c.636C>A (p.Asn212Lys)
c.669C>A (p.Asn223Lys)
c.759C>A (p.Asn253Lys)
c.256-1239C>A (n.256-1239C>A)
c.486C>A (p.Asn162Lys)
n.867C>A
c.597C>A (p.Asn199Lys)
c.807C>A (p.Asn269Lys)
15g.74896300C=CA2187901973MPIc.819C= (p.Asn273=)
c.636C= (p.Asn212=)
c.669C= (p.Asn223=)
c.759C= (p.Asn253=)
c.256-1239C= (n.256-1239C=)
c.486C= (p.Asn162=)
n.867C=
c.597C= (p.Asn199=)
c.807C= (p.Asn269=)
15g.74896300C>GCA272825526MPIc.819C>G (p.Asn273Lys)
c.636C>G (p.Asn212Lys)
c.669C>G (p.Asn223Lys)
c.759C>G (p.Asn253Lys)
c.256-1239C>G (n.256-1239C>G)
c.486C>G (p.Asn162Lys)
n.867C>G
c.597C>G (p.Asn199Lys)
c.807C>G (p.Asn269Lys)
dbSNP gnomAD v4
15g.74896300C>TCA7662547MPIc.819C>T (p.Asn273=)
c.636C>T (p.Asn212=)
c.669C>T (p.Asn223=)
c.759C>T (p.Asn253=)
c.256-1239C>T (n.256-1239C>T)
c.486C>T (p.Asn162=)
n.867C>T
c.597C>T (p.Asn199=)
c.807C>T (p.Asn269=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896301G>ACA7662548MPIc.820G>A (p.Val274Ile)
c.637G>A (p.Val213Ile)
c.670G>A (p.Val224Ile)
c.760G>A (p.Val254Ile)
c.256-1238G>A (n.256-1238G>A)
c.487G>A (p.Val163Ile)
n.868G>A
c.598G>A (p.Val200Ile)
c.808G>A (p.Val270Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896301G>CCA393176076MPIc.820G>C (p.Val274Leu)
c.637G>C (p.Val213Leu)
c.670G>C (p.Val224Leu)
c.760G>C (p.Val254Leu)
c.256-1238G>C (n.256-1238G>C)
c.487G>C (p.Val163Leu)
n.868G>C
c.598G>C (p.Val200Leu)
c.808G>C (p.Val270Leu)
15g.74896301G=CA2187901981MPIc.820G= (p.Val274=)
c.637G= (p.Val213=)
c.670G= (p.Val224=)
c.760G= (p.Val254=)
c.256-1238G= (n.256-1238G=)
c.487G= (p.Val163=)
n.868G=
c.598G= (p.Val200=)
c.808G= (p.Val270=)
15g.74896301G>TCA393176077MPIc.820G>T (p.Val274Leu)
c.637G>T (p.Val213Leu)
c.670G>T (p.Val224Leu)
c.760G>T (p.Val254Leu)
c.256-1238G>T (n.256-1238G>T)
c.487G>T (p.Val163Leu)
n.868G>T
c.598G>T (p.Val200Leu)
c.808G>T (p.Val270Leu)
gnomAD v4
15g.74896301dupCA619413158MPIc.820dup (p.Val274GlyfsTer?)
c.637dup (p.Val213GlyfsTer?)
c.670dup (p.Val224GlyfsTer?)
c.760dup (p.Val254GlyfsTer10)
c.256-1238dup (n.256-1238dup)
c.820dup (p.Val274GlyfsTer10)
c.760dup (p.Val254GlyfsTer?)
c.487dup (p.Val163GlyfsTer10)
c.820dup (p.Val274GlyfsTer29)
n.868dup
c.598dup (p.Val200GlyfsTer29)
c.808dup (p.Val270GlyfsTer?)
c.760dup (p.Val254GlyfsTer29)
c.670dup (p.Val224GlyfsTer29)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896302T>ACA393176080MPIc.821T>A (p.Val274Glu)
c.638T>A (p.Val213Glu)
c.671T>A (p.Val224Glu)
c.761T>A (p.Val254Glu)
c.256-1237T>A (n.256-1237T>A)
c.488T>A (p.Val163Glu)
n.869T>A
c.599T>A (p.Val200Glu)
c.809T>A (p.Val270Glu)
15g.74896302T>CCA393176079MPIc.821T>C (p.Val274Ala)
c.638T>C (p.Val213Ala)
c.671T>C (p.Val224Ala)
c.761T>C (p.Val254Ala)
c.256-1237T>C (n.256-1237T>C)
c.488T>C (p.Val163Ala)
n.869T>C
c.599T>C (p.Val200Ala)
c.809T>C (p.Val270Ala)
15g.74896302T>GCA393176078MPIc.821T>G (p.Val274Gly)
c.638T>G (p.Val213Gly)
c.671T>G (p.Val224Gly)
c.761T>G (p.Val254Gly)
c.256-1237T>G (n.256-1237T>G)
c.488T>G (p.Val163Gly)
n.869T>G
c.599T>G (p.Val200Gly)
c.809T>G (p.Val270Gly)
15g.74896303A>CCA491491450MPIc.822A>C (p.Val274=)
c.639A>C (p.Val213=)
c.672A>C (p.Val224=)
c.762A>C (p.Val254=)
c.256-1236A>C (n.256-1236A>C)
c.489A>C (p.Val163=)
n.870A>C
c.600A>C (p.Val200=)
c.810A>C (p.Val270=)
15g.74896303A>GCA491491451MPIc.822A>G (p.Val274=)
c.639A>G (p.Val213=)
c.672A>G (p.Val224=)
c.762A>G (p.Val254=)
c.256-1236A>G (n.256-1236A>G)
c.489A>G (p.Val163=)
n.870A>G
c.600A>G (p.Val200=)
c.810A>G (p.Val270=)
15g.74896303A>TCA491491452MPIc.822A>T (p.Val274=)
c.639A>T (p.Val213=)
c.672A>T (p.Val224=)
c.762A>T (p.Val254=)
c.256-1236A>T (n.256-1236A>T)
c.489A>T (p.Val163=)
n.870A>T
c.600A>T (p.Val200=)
c.810A>T (p.Val270=)
15g.74896303_74896304dupCA2629530728MPIc.822_823dup (p.Pro275HisfsTer6)
c.639_640dup (p.Pro214HisfsTer6)
c.672_673dup (p.Pro225HisfsTer6)
c.762_763dup (p.Pro255HisfsTer6)
c.256-1236_256-1235dup (n.256-1236_256-1235dup)
c.489_490dup (p.Pro164HisfsTer6)
n.870_871dup
c.600_601dup (p.Pro201HisfsTer6)
c.810_811dup (p.Pro271HisfsTer6)
gnomAD v4
15g.74896304C>ACA393176081MPIc.823C>A (p.Pro275Thr)
c.640C>A (p.Pro214Thr)
c.673C>A (p.Pro225Thr)
c.763C>A (p.Pro255Thr)
c.256-1235C>A (n.256-1235C>A)
c.490C>A (p.Pro164Thr)
n.871C>A
c.601C>A (p.Pro201Thr)
c.811C>A (p.Pro271Thr)
15g.74896304C=CA2187901984MPIc.823C= (p.Pro275=)
c.640C= (p.Pro214=)
c.673C= (p.Pro225=)
c.763C= (p.Pro255=)
c.256-1235C= (n.256-1235C=)
c.490C= (p.Pro164=)
n.871C=
c.601C= (p.Pro201=)
c.811C= (p.Pro271=)
15g.74896304C>GCA393176082MPIc.823C>G (p.Pro275Ala)
c.640C>G (p.Pro214Ala)
c.673C>G (p.Pro225Ala)
c.763C>G (p.Pro255Ala)
c.256-1235C>G (n.256-1235C>G)
c.490C>G (p.Pro164Ala)
n.871C>G
c.601C>G (p.Pro201Ala)
c.811C>G (p.Pro271Ala)
15g.74896304C>TCA7662549MPIc.823C>T (p.Pro275Ser)
c.640C>T (p.Pro214Ser)
c.673C>T (p.Pro225Ser)
c.763C>T (p.Pro255Ser)
c.256-1235C>T (n.256-1235C>T)
c.490C>T (p.Pro164Ser)
n.871C>T
c.601C>T (p.Pro201Ser)
c.811C>T (p.Pro271Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896305C>ACA393176083MPIc.824C>A (p.Pro275His)
c.641C>A (p.Pro214His)
c.674C>A (p.Pro225His)
c.764C>A (p.Pro255His)
c.256-1234C>A (n.256-1234C>A)
c.491C>A (p.Pro164His)
n.872C>A
c.602C>A (p.Pro201His)
c.812C>A (p.Pro271His)
15g.74896305C>GCA393176084MPIc.824C>G (p.Pro275Arg)
c.641C>G (p.Pro214Arg)
c.674C>G (p.Pro225Arg)
c.764C>G (p.Pro255Arg)
c.256-1234C>G (n.256-1234C>G)
c.491C>G (p.Pro164Arg)
n.872C>G
c.602C>G (p.Pro201Arg)
c.812C>G (p.Pro271Arg)
15g.74896305C>TCA393176085MPIc.824C>T (p.Pro275Leu)
c.641C>T (p.Pro214Leu)
c.674C>T (p.Pro225Leu)
c.764C>T (p.Pro255Leu)
c.256-1234C>T (n.256-1234C>T)
c.491C>T (p.Pro164Leu)
n.872C>T
c.602C>T (p.Pro201Leu)
c.812C>T (p.Pro271Leu)
gnomAD v4
15g.74896306C>ACA491491453MPIc.825C>A (p.Pro275=)
c.642C>A (p.Pro214=)
c.675C>A (p.Pro225=)
c.765C>A (p.Pro255=)
c.256-1233C>A (n.256-1233C>A)
c.492C>A (p.Pro164=)
n.873C>A
c.603C>A (p.Pro201=)
c.813C>A (p.Pro271=)
15g.74896306C>GCA491491454MPIc.825C>G (p.Pro275=)
c.642C>G (p.Pro214=)
c.675C>G (p.Pro225=)
c.765C>G (p.Pro255=)
c.256-1233C>G (n.256-1233C>G)
c.492C>G (p.Pro164=)
n.873C>G
c.603C>G (p.Pro201=)
c.813C>G (p.Pro271=)
15g.74896306C>TCA491491455MPIc.825C>T (p.Pro275=)
c.642C>T (p.Pro214=)
c.675C>T (p.Pro225=)
c.765C>T (p.Pro255=)
c.256-1233C>T (n.256-1233C>T)
c.492C>T (p.Pro164=)
n.873C>T
c.603C>T (p.Pro201=)
c.813C>T (p.Pro271=)
gnomAD v4
15g.74896307C>ACA393176086MPIc.826C>A (p.His276Asn)
c.643C>A (p.His215Asn)
c.676C>A (p.His226Asn)
c.766C>A (p.His256Asn)
c.256-1232C>A (n.256-1232C>A)
c.493C>A (p.His165Asn)
n.874C>A
c.604C>A (p.His202Asn)
c.814C>A (p.His272Asn)
15g.74896307C>GCA393176088MPIc.826C>G (p.His276Asp)
c.643C>G (p.His215Asp)
c.676C>G (p.His226Asp)
c.766C>G (p.His256Asp)
c.256-1232C>G (n.256-1232C>G)
c.493C>G (p.His165Asp)
n.874C>G
c.604C>G (p.His202Asp)
c.814C>G (p.His272Asp)
15g.74896307C>TCA393176087MPIc.826C>T (p.His276Tyr)
c.643C>T (p.His215Tyr)
c.676C>T (p.His226Tyr)
c.766C>T (p.His256Tyr)
c.256-1232C>T (n.256-1232C>T)
c.493C>T (p.His165Tyr)
n.874C>T
c.604C>T (p.His202Tyr)
c.814C>T (p.His272Tyr)
15g.74896308A>CCA393176089MPIc.827A>C (p.His276Pro)
c.644A>C (p.His215Pro)
c.677A>C (p.His226Pro)
c.767A>C (p.His256Pro)
c.256-1231A>C (n.256-1231A>C)
c.494A>C (p.His165Pro)
n.875A>C
c.605A>C (p.His202Pro)
c.815A>C (p.His272Pro)
15g.74896308A>GCA393176090MPIc.827A>G (p.His276Arg)
c.644A>G (p.His215Arg)
c.677A>G (p.His226Arg)
c.767A>G (p.His256Arg)
c.256-1231A>G (n.256-1231A>G)
c.494A>G (p.His165Arg)
n.875A>G
c.605A>G (p.His202Arg)
c.815A>G (p.His272Arg)
15g.74896308A>TCA393176091MPIc.827A>T (p.His276Leu)
c.644A>T (p.His215Leu)
c.677A>T (p.His226Leu)
c.767A>T (p.His256Leu)
c.256-1231A>T (n.256-1231A>T)
c.494A>T (p.His165Leu)
n.875A>T
c.605A>T (p.His202Leu)
c.815A>T (p.His272Leu)
15g.74896309T>ACA393176092MPIc.828T>A (p.His276Gln)
c.645T>A (p.His215Gln)
c.678T>A (p.His226Gln)
c.768T>A (p.His256Gln)
c.256-1230T>A (n.256-1230T>A)
c.495T>A (p.His165Gln)
n.876T>A
c.606T>A (p.His202Gln)
c.816T>A (p.His272Gln)
15g.74896309T>CCA491491459MPIc.828T>C (p.His276=)
c.645T>C (p.His215=)
c.678T>C (p.His226=)
c.768T>C (p.His256=)
c.256-1230T>C (n.256-1230T>C)
c.495T>C (p.His165=)
n.876T>C
c.606T>C (p.His202=)
c.816T>C (p.His272=)
15g.74896309T>GCA393176093MPIc.828T>G (p.His276Gln)
c.645T>G (p.His215Gln)
c.678T>G (p.His226Gln)
c.768T>G (p.His256Gln)
c.256-1230T>G (n.256-1230T>G)
c.495T>G (p.His165Gln)
n.876T>G
c.606T>G (p.His202Gln)
c.816T>G (p.His272Gln)
15g.74896310G>ACA7662550MPIc.829G>A (p.Ala277Thr)
c.646G>A (p.Ala216Thr)
c.679G>A (p.Ala227Thr)
c.769G>A (p.Ala257Thr)
c.256-1229G>A (n.256-1229G>A)
c.496G>A (p.Ala166Thr)
n.877G>A
c.607G>A (p.Ala203Thr)
c.817G>A (p.Ala273Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896310G>CCA393176094MPIc.829G>C (p.Ala277Pro)
c.646G>C (p.Ala216Pro)
c.679G>C (p.Ala227Pro)
c.769G>C (p.Ala257Pro)
c.256-1229G>C (n.256-1229G>C)
c.496G>C (p.Ala166Pro)
n.877G>C
c.607G>C (p.Ala203Pro)
c.817G>C (p.Ala273Pro)
15g.74896310G=CA2187901987MPIc.829G= (p.Ala277=)
c.646G= (p.Ala216=)
c.679G= (p.Ala227=)
c.769G= (p.Ala257=)
c.256-1229G= (n.256-1229G=)
c.496G= (p.Ala166=)
n.877G=
c.607G= (p.Ala203=)
c.817G= (p.Ala273=)
15g.74896310G>TCA393176095MPIc.829G>T (p.Ala277Ser)
c.646G>T (p.Ala216Ser)
c.679G>T (p.Ala227Ser)
c.769G>T (p.Ala257Ser)
c.256-1229G>T (n.256-1229G>T)
c.496G>T (p.Ala166Ser)
n.877G>T
c.607G>T (p.Ala203Ser)
c.817G>T (p.Ala273Ser)
15g.74896310_74896312delinsGCCCA2187901989MPIc.829_831delinsGCC (p.Ala277=)
c.646_648delinsGCC (p.Ala216=)
c.679_681delinsGCC (p.Ala227=)
c.769_771delinsGCC (p.Ala257=)
c.256-1229_256-1227delinsGCC (n.256-1229_256-1227delinsGCC)
c.496_498delinsGCC (p.Ala166=)
n.877_879delinsGCC
c.607_609delinsGCC (p.Ala203=)
c.817_819delinsGCC (p.Ala273=)
15g.74896311C>ACA393176096MPIc.830C>A (p.Ala277Asp)
c.647C>A (p.Ala216Asp)
c.680C>A (p.Ala227Asp)
c.770C>A (p.Ala257Asp)
c.256-1228C>A (n.256-1228C>A)
c.497C>A (p.Ala166Asp)
n.878C>A
c.608C>A (p.Ala203Asp)
c.818C>A (p.Ala273Asp)
15g.74896311C>GCA393176097MPIc.830C>G (p.Ala277Gly)
c.647C>G (p.Ala216Gly)
c.680C>G (p.Ala227Gly)
c.770C>G (p.Ala257Gly)
c.256-1228C>G (n.256-1228C>G)
c.497C>G (p.Ala166Gly)
n.878C>G
c.608C>G (p.Ala203Gly)
c.818C>G (p.Ala273Gly)
15g.74896311C>TCA393176098MPIc.830C>T (p.Ala277Val)
c.647C>T (p.Ala216Val)
c.680C>T (p.Ala227Val)
c.770C>T (p.Ala257Val)
c.256-1228C>T (n.256-1228C>T)
c.497C>T (p.Ala166Val)
n.878C>T
c.608C>T (p.Ala203Val)
c.818C>T (p.Ala273Val)
15g.74896311_74896312delCA619413159MPIc.830_831del (p.Ala277ValfsTer27)
c.647_648del (p.Ala216ValfsTer27)
c.680_681del (p.Ala227ValfsTer27)
c.770_771del (p.Ala257ValfsTer6)
c.256-1228_256-1227del (n.256-1228_256-1227del)
c.830_831del (p.Ala277ValfsTer6)
c.770_771del (p.Ala257ValfsTer27)
c.497_498del (p.Ala166ValfsTer6)
c.830_831del (p.Ala277ValfsTer25)
n.878_879del
c.608_609del (p.Ala203ValfsTer25)
c.818_819del (p.Ala273ValfsTer27)
c.770_771del (p.Ala257ValfsTer25)
c.680_681del (p.Ala227ValfsTer25)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896312C>ACA491491461MPIc.831C>A (p.Ala277=)
c.648C>A (p.Ala216=)
c.681C>A (p.Ala227=)
c.771C>A (p.Ala257=)
c.256-1227C>A (n.256-1227C>A)
c.498C>A (p.Ala166=)
n.879C>A
c.609C>A (p.Ala203=)
c.819C>A (p.Ala273=)
15g.74896312C>GCA491491462MPIc.831C>G (p.Ala277=)
c.648C>G (p.Ala216=)
c.681C>G (p.Ala227=)
c.771C>G (p.Ala257=)
c.256-1227C>G (n.256-1227C>G)
c.498C>G (p.Ala166=)
n.879C>G
c.609C>G (p.Ala203=)
c.819C>G (p.Ala273=)
gnomAD v4
15g.74896312C>TCA491491463MPIc.831C>T (p.Ala277=)
c.648C>T (p.Ala216=)
c.681C>T (p.Ala227=)
c.771C>T (p.Ala257=)
c.256-1227C>T (n.256-1227C>T)
c.498C>T (p.Ala166=)
n.879C>T
c.609C>T (p.Ala203=)
c.819C>T (p.Ala273=)
15g.74896313T>ACA393176099MPIc.832T>A (p.Tyr278Asn)
c.649T>A (p.Tyr217Asn)
c.682T>A (p.Tyr228Asn)
c.772T>A (p.Tyr258Asn)
c.256-1226T>A (n.256-1226T>A)
c.499T>A (p.Tyr167Asn)
n.880T>A
c.610T>A (p.Tyr204Asn)
c.820T>A (p.Tyr274Asn)
15g.74896313T>CCA393176101MPIc.832T>C (p.Tyr278His)
c.649T>C (p.Tyr217His)
c.682T>C (p.Tyr228His)
c.772T>C (p.Tyr258His)
c.256-1226T>C (n.256-1226T>C)
c.499T>C (p.Tyr167His)
n.880T>C
c.610T>C (p.Tyr204His)
c.820T>C (p.Tyr274His)
15g.74896313T>GCA393176100MPIc.832T>G (p.Tyr278Asp)
c.649T>G (p.Tyr217Asp)
c.682T>G (p.Tyr228Asp)
c.772T>G (p.Tyr258Asp)
c.256-1226T>G (n.256-1226T>G)
c.499T>G (p.Tyr167Asp)
n.880T>G
c.610T>G (p.Tyr204Asp)
c.820T>G (p.Tyr274Asp)
15g.74896314A=CA2187901994MPIc.833A= (p.Tyr278=)
c.650A= (p.Tyr217=)
c.683A= (p.Tyr228=)
c.773A= (p.Tyr258=)
c.256-1225A= (n.256-1225A=)
c.500A= (p.Tyr167=)
n.881A=
c.611A= (p.Tyr204=)
c.821A= (p.Tyr274=)
15g.74896314A>CCA393176102MPIc.833A>C (p.Tyr278Ser)
c.650A>C (p.Tyr217Ser)
c.683A>C (p.Tyr228Ser)
c.773A>C (p.Tyr258Ser)
c.256-1225A>C (n.256-1225A>C)
c.500A>C (p.Tyr167Ser)
n.881A>C
c.611A>C (p.Tyr204Ser)
c.821A>C (p.Tyr274Ser)
15g.74896314A>GCA393176103MPIc.833A>G (p.Tyr278Cys)
c.650A>G (p.Tyr217Cys)
c.683A>G (p.Tyr228Cys)
c.773A>G (p.Tyr258Cys)
c.256-1225A>G (n.256-1225A>G)
c.500A>G (p.Tyr167Cys)
n.881A>G
c.611A>G (p.Tyr204Cys)
c.821A>G (p.Tyr274Cys)
15g.74896314A>TCA7662551MPIc.833A>T (p.Tyr278Phe)
c.650A>T (p.Tyr217Phe)
c.683A>T (p.Tyr228Phe)
c.773A>T (p.Tyr258Phe)
c.256-1225A>T (n.256-1225A>T)
c.500A>T (p.Tyr167Phe)
n.881A>T
c.611A>T (p.Tyr204Phe)
c.821A>T (p.Tyr274Phe)
dbSNP ExAC gnomAD v3 gnomAD v4
15g.74896315C>ACA393176104MPIc.834C>A (p.Tyr278Ter)
c.651C>A (p.Tyr217Ter)
c.684C>A (p.Tyr228Ter)
c.774C>A (p.Tyr258Ter)
c.256-1224C>A (n.256-1224C>A)
c.501C>A (p.Tyr167Ter)
n.882C>A
c.612C>A (p.Tyr204Ter)
c.822C>A (p.Tyr274Ter)
15g.74896315C>GCA393176105MPIc.834C>G (p.Tyr278Ter)
c.651C>G (p.Tyr217Ter)
c.684C>G (p.Tyr228Ter)
c.774C>G (p.Tyr258Ter)
c.256-1224C>G (n.256-1224C>G)
c.501C>G (p.Tyr167Ter)
n.882C>G
c.612C>G (p.Tyr204Ter)
c.822C>G (p.Tyr274Ter)
15g.74896315C>TCA491491467MPIc.834C>T (p.Tyr278=)
c.651C>T (p.Tyr217=)
c.684C>T (p.Tyr228=)
c.774C>T (p.Tyr258=)
c.256-1224C>T (n.256-1224C>T)
c.501C>T (p.Tyr167=)
n.882C>T
c.612C>T (p.Tyr204=)
c.822C>T (p.Tyr274=)
ClinVar gnomAD v4
15g.74896316C>ACA393176106MPIc.835C>A (p.Leu279Met)
c.652C>A (p.Leu218Met)
c.685C>A (p.Leu229Met)
c.775C>A (p.Leu259Met)
c.256-1223C>A (n.256-1223C>A)
c.502C>A (p.Leu168Met)
n.883C>A
c.613C>A (p.Leu205Met)
c.823C>A (p.Leu275Met)
15g.74896316C>GCA393176107MPIc.835C>G (p.Leu279Val)
c.652C>G (p.Leu218Val)
c.685C>G (p.Leu229Val)
c.775C>G (p.Leu259Val)
c.256-1223C>G (n.256-1223C>G)
c.502C>G (p.Leu168Val)
n.883C>G
c.613C>G (p.Leu205Val)
c.823C>G (p.Leu275Val)
15g.74896316C>TCA491491468MPIc.835C>T (p.Leu279=)
c.652C>T (p.Leu218=)
c.685C>T (p.Leu229=)
c.775C>T (p.Leu259=)
c.256-1223C>T (n.256-1223C>T)
c.502C>T (p.Leu168=)
n.883C>T
c.613C>T (p.Leu205=)
c.823C>T (p.Leu275=)
15g.74896317T>ACA393176108MPIc.836T>A (p.Leu279Gln)
c.653T>A (p.Leu218Gln)
c.686T>A (p.Leu229Gln)
c.776T>A (p.Leu259Gln)
c.256-1222T>A (n.256-1222T>A)
c.503T>A (p.Leu168Gln)
n.884T>A
c.614T>A (p.Leu205Gln)
c.824T>A (p.Leu275Gln)
15g.74896317T>CCA393176109MPIc.836T>C (p.Leu279Pro)
c.653T>C (p.Leu218Pro)
c.686T>C (p.Leu229Pro)
c.776T>C (p.Leu259Pro)
c.256-1222T>C (n.256-1222T>C)
c.503T>C (p.Leu168Pro)
n.884T>C
c.614T>C (p.Leu205Pro)
c.824T>C (p.Leu275Pro)
15g.74896317T>GCA393176110MPIc.836T>G (p.Leu279Arg)
c.653T>G (p.Leu218Arg)
c.686T>G (p.Leu229Arg)
c.776T>G (p.Leu259Arg)
c.256-1222T>G (n.256-1222T>G)
c.503T>G (p.Leu168Arg)
n.884T>G
c.614T>G (p.Leu205Arg)
c.824T>G (p.Leu275Arg)
15g.74896318G>ACA491491472MPIc.837G>A (p.Leu279=)
c.654G>A (p.Leu218=)
c.687G>A (p.Leu229=)
c.777G>A (p.Leu259=)
c.256-1221G>A (n.256-1221G>A)
c.504G>A (p.Leu168=)
n.885G>A
c.615G>A (p.Leu205=)
c.825G>A (p.Leu275=)
15g.74896318G>CCA491491473MPIc.837G>C (p.Leu279=)
c.654G>C (p.Leu218=)
c.687G>C (p.Leu229=)
c.777G>C (p.Leu259=)
c.256-1221G>C (n.256-1221G>C)
c.504G>C (p.Leu168=)
n.885G>C
c.615G>C (p.Leu205=)
c.825G>C (p.Leu275=)
15g.74896318G>TCA491491474MPIc.837G>T (p.Leu279=)
c.654G>T (p.Leu218=)
c.687G>T (p.Leu229=)
c.777G>T (p.Leu259=)
c.256-1221G>T (n.256-1221G>T)
c.504G>T (p.Leu168=)
n.885G>T
c.615G>T (p.Leu205=)
c.825G>T (p.Leu275=)
15g.74896319A>CCA393176111MPIc.838A>C (p.Lys280Gln)
c.655A>C (p.Lys219Gln)
c.688A>C (p.Lys230Gln)
c.778A>C (p.Lys260Gln)
c.256-1220A>C (n.256-1220A>C)
c.505A>C (p.Lys169Gln)
n.886A>C
c.616A>C (p.Lys206Gln)
c.826A>C (p.Lys276Gln)
15g.74896319A>GCA393176112MPIc.838A>G (p.Lys280Glu)
c.655A>G (p.Lys219Glu)
c.688A>G (p.Lys230Glu)
c.778A>G (p.Lys260Glu)
c.256-1220A>G (n.256-1220A>G)
c.505A>G (p.Lys169Glu)
n.886A>G
c.616A>G (p.Lys206Glu)
c.826A>G (p.Lys276Glu)
gnomAD v4
15g.74896319A>TCA393176113MPIc.838A>T (p.Lys280Ter)
c.655A>T (p.Lys219Ter)
c.688A>T (p.Lys230Ter)
c.778A>T (p.Lys260Ter)
c.256-1220A>T (n.256-1220A>T)
c.505A>T (p.Lys169Ter)
n.886A>T
c.616A>T (p.Lys206Ter)
c.826A>T (p.Lys276Ter)
15g.74896320A>CCA393176114MPIc.839A>C (p.Lys280Thr)
c.656A>C (p.Lys219Thr)
c.689A>C (p.Lys230Thr)
c.779A>C (p.Lys260Thr)
c.256-1219A>C (n.256-1219A>C)
c.506A>C (p.Lys169Thr)
n.887A>C
c.617A>C (p.Lys206Thr)
c.827A>C (p.Lys276Thr)
15g.74896320A>GCA393176116MPIc.839A>G (p.Lys280Arg)
c.656A>G (p.Lys219Arg)
c.689A>G (p.Lys230Arg)
c.779A>G (p.Lys260Arg)
c.256-1219A>G (n.256-1219A>G)
c.506A>G (p.Lys169Arg)
n.887A>G
c.617A>G (p.Lys206Arg)
c.827A>G (p.Lys276Arg)
15g.74896320A>TCA393176115MPIc.839A>T (p.Lys280Ile)
c.656A>T (p.Lys219Ile)
c.689A>T (p.Lys230Ile)
c.779A>T (p.Lys260Ile)
c.256-1219A>T (n.256-1219A>T)
c.506A>T (p.Lys169Ile)
n.887A>T
c.617A>T (p.Lys206Ile)
c.827A>T (p.Lys276Ile)
15g.74896320_74896323delinsAAGGCA2187901995MPIc.839_842delinsAAGG (p.Lys280=)
c.656_659delinsAAGG (p.Lys219=)
c.689_692delinsAAGG (p.Lys230=)
c.779_782delinsAAGG (p.Lys260=)
c.256-1219_256-1216delinsAAGG (n.256-1219_256-1216delinsAAGG)
c.506_509delinsAAGG (p.Lys169=)
n.887_890delinsAAGG
c.617_620delinsAAGG (p.Lys206=)
c.827_830delinsAAGG (p.Lys276=)
15g.74896321A>CCA393176117MPIc.840A>C (p.Lys280Asn)
c.657A>C (p.Lys219Asn)
c.690A>C (p.Lys230Asn)
c.780A>C (p.Lys260Asn)
c.256-1218A>C (n.256-1218A>C)
c.507A>C (p.Lys169Asn)
n.888A>C
c.618A>C (p.Lys206Asn)
c.828A>C (p.Lys276Asn)
15g.74896321A>GCA491491478MPIc.840A>G (p.Lys280=)
c.657A>G (p.Lys219=)
c.690A>G (p.Lys230=)
c.780A>G (p.Lys260=)
c.256-1218A>G (n.256-1218A>G)
c.507A>G (p.Lys169=)
n.888A>G
c.618A>G (p.Lys206=)
c.828A>G (p.Lys276=)
15g.74896321A>TCA393176118MPIc.840A>T (p.Lys280Asn)
c.657A>T (p.Lys219Asn)
c.690A>T (p.Lys230Asn)
c.780A>T (p.Lys260Asn)
c.256-1218A>T (n.256-1218A>T)
c.507A>T (p.Lys169Asn)
n.888A>T
c.618A>T (p.Lys206Asn)
c.828A>T (p.Lys276Asn)
15g.74896324_74896326delCA619413160MPIc.843_844+1del
c.660_661+1del
c.693_694+1del
c.783_785del (p.Gly262del)
c.256-1215_256-1213del (n.256-1215_256-1213del)
c.843_845del (p.Gly282del)
c.783_784+1del
c.510_512del (p.Gly171del)
n.891_893del
c.621_622+1del
c.831_832+1del
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896322G>ACA393176119MPIc.841G>A (p.Gly281Arg)
c.658G>A (p.Gly220Arg)
c.691G>A (p.Gly231Arg)
c.781G>A (p.Gly261Arg)
c.256-1217G>A (n.256-1217G>A)
c.508G>A (p.Gly170Arg)
n.889G>A
c.619G>A (p.Gly207Arg)
c.829G>A (p.Gly277Arg)
gnomAD v4
15g.74896322G>CCA393176120MPIc.841G>C (p.Gly281Arg)
c.658G>C (p.Gly220Arg)
c.691G>C (p.Gly231Arg)
c.781G>C (p.Gly261Arg)
c.256-1217G>C (n.256-1217G>C)
c.508G>C (p.Gly170Arg)
n.889G>C
c.619G>C (p.Gly207Arg)
c.829G>C (p.Gly277Arg)
15g.74896322G=CA2187901999MPIc.841G= (p.Gly281=)
c.658G= (p.Gly220=)
c.691G= (p.Gly231=)
c.781G= (p.Gly261=)
c.256-1217G= (n.256-1217G=)
c.508G= (p.Gly170=)
n.889G=
c.619G= (p.Gly207=)
c.829G= (p.Gly277=)
15g.74896322G>TCA7662552MPIc.841G>T (p.Gly281Ter)
c.658G>T (p.Gly220Ter)
c.691G>T (p.Gly231Ter)
c.781G>T (p.Gly261Ter)
c.256-1217G>T (n.256-1217G>T)
c.508G>T (p.Gly170Ter)
n.889G>T
c.619G>T (p.Gly207Ter)
c.829G>T (p.Gly277Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896323G>ACA7662553MPIc.842G>A (p.Gly281Glu)
c.659G>A (p.Gly220Glu)
c.692G>A (p.Gly231Glu)
c.782G>A (p.Gly261Glu)
c.256-1216G>A (n.256-1216G>A)
c.509G>A (p.Gly170Glu)
n.890G>A
c.620G>A (p.Gly207Glu)
c.830G>A (p.Gly277Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896323G>CCA393176121MPIc.842G>C (p.Gly281Ala)
c.659G>C (p.Gly220Ala)
c.692G>C (p.Gly231Ala)
c.782G>C (p.Gly261Ala)
c.256-1216G>C (n.256-1216G>C)
c.509G>C (p.Gly170Ala)
n.890G>C
c.620G>C (p.Gly207Ala)
c.830G>C (p.Gly277Ala)
15g.74896323G=CA2187902004MPIc.842G= (p.Gly281=)
c.659G= (p.Gly220=)
c.692G= (p.Gly231=)
c.782G= (p.Gly261=)
c.256-1216G= (n.256-1216G=)
c.509G= (p.Gly170=)
n.890G=
c.620G= (p.Gly207=)
c.830G= (p.Gly277=)
15g.74896323G>TCA393176122MPIc.842G>T (p.Gly281Val)
c.659G>T (p.Gly220Val)
c.692G>T (p.Gly231Val)
c.782G>T (p.Gly261Val)
c.256-1216G>T (n.256-1216G>T)
c.509G>T (p.Gly170Val)
n.890G>T
c.620G>T (p.Gly207Val)
c.830G>T (p.Gly277Val)
15g.74896324A>CCA491491482MPIc.843A>C (p.Gly281=)
c.660A>C (p.Gly220=)
c.693A>C (p.Gly231=)
c.783A>C (p.Gly261=)
c.256-1215A>C (n.256-1215A>C)
c.510A>C (p.Gly170=)
n.891A>C
c.621A>C (p.Gly207=)
c.831A>C (p.Gly277=)
15g.74896324A>GCA491491483MPIc.843A>G (p.Gly281=)
c.660A>G (p.Gly220=)
c.693A>G (p.Gly231=)
c.783A>G (p.Gly261=)
c.256-1215A>G (n.256-1215A>G)
c.510A>G (p.Gly170=)
n.891A>G
c.621A>G (p.Gly207=)
c.831A>G (p.Gly277=)
15g.74896324A>TCA491491484MPIc.843A>T (p.Gly281=)
c.660A>T (p.Gly220=)
c.693A>T (p.Gly231=)
c.783A>T (p.Gly261=)
c.256-1215A>T (n.256-1215A>T)
c.510A>T (p.Gly170=)
n.891A>T
c.621A>T (p.Gly207=)
c.831A>T (p.Gly277=)
15g.74896325G>ACA393176123MPIc.844G>A (p.Asp282Asn)
c.661G>A (p.Asp221Asn)
c.694G>A (p.Asp232Asn)
c.784G>A (p.Gly262Ser)
c.256-1214G>A (n.256-1214G>A)
c.844G>A (p.Gly282Ser)
c.784G>A (p.Asp262Asn)
c.511G>A (p.Gly171Ser)
n.892G>A
c.622G>A (p.Gly208Ser)
c.832G>A (p.Asp278Asn)
c.694G>A (p.Gly232Ser)
gnomAD v4
15g.74896325G>CCA393176124MPIc.844G>C (p.Asp282His)
c.661G>C (p.Asp221His)
c.694G>C (p.Asp232His)
c.784G>C (p.Gly262Arg)
c.256-1214G>C (n.256-1214G>C)
c.844G>C (p.Gly282Arg)
c.784G>C (p.Asp262His)
c.511G>C (p.Gly171Arg)
n.892G>C
c.622G>C (p.Gly208Arg)
c.832G>C (p.Asp278His)
c.694G>C (p.Gly232Arg)
15g.74896325G=CA2187902009MPIc.844G= (p.Asp282=)
c.661G= (p.Asp221=)
c.694G= (p.Asp232=)
c.784G= (p.Gly262=)
c.256-1214G= (n.256-1214G=)
c.844G= (p.Gly282=)
c.784G= (p.Asp262=)
c.511G= (p.Gly171=)
n.892G=
c.622G= (p.Gly208=)
c.832G= (p.Asp278=)
c.694G= (p.Gly232=)
15g.74896325G>TCA393176125MPIc.844G>T (p.Asp282Tyr)
c.661G>T (p.Asp221Tyr)
c.694G>T (p.Asp232Tyr)
c.784G>T (p.Gly262Cys)
c.256-1214G>T (n.256-1214G>T)
c.844G>T (p.Gly282Cys)
c.784G>T (p.Asp262Tyr)
c.511G>T (p.Gly171Cys)
n.892G>T
c.622G>T (p.Gly208Cys)
c.832G>T (p.Asp278Tyr)
c.694G>T (p.Gly232Cys)
dbSNP
15g.74896326G>ACA393176127MPIc.844+1G>A (n.844+1G>A)
c.661+1G>A (n.661+1G>A)
c.694+1G>A (n.694+1G>A)
c.785G>A (p.Gly262Asp)
c.256-1213G>A (n.256-1213G>A)
c.845G>A (p.Gly282Asp)
c.784+1G>A (n.784+1G>A)
c.512G>A (p.Gly171Asp)
n.893G>A
c.622+1G>A (n.622+1G>A)
c.832+1G>A (n.832+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74896326G>CCA393176128MPIc.844+1G>C (n.844+1G>C)
c.661+1G>C (n.661+1G>C)
c.694+1G>C (n.694+1G>C)
c.785G>C (p.Gly262Ala)
c.256-1213G>C (n.256-1213G>C)
c.845G>C (p.Gly282Ala)
c.784+1G>C (n.784+1G>C)
c.512G>C (p.Gly171Ala)
n.893G>C
c.622+1G>C (n.622+1G>C)
c.832+1G>C (n.832+1G>C)
15g.74896326G=CA2187902015MPIc.844+1G= (n.844+1G=)
c.661+1G= (n.661+1G=)
c.694+1G= (n.694+1G=)
c.785G= (p.Gly262=)
c.256-1213G= (n.256-1213G=)
c.845G= (p.Gly282=)
c.784+1G= (n.784+1G=)
c.512G= (p.Gly171=)
n.893G=
c.622+1G= (n.622+1G=)
c.832+1G= (n.832+1G=)
15g.74896326G>TCA393176126MPIc.844+1G>T (n.844+1G>T)
c.661+1G>T (n.661+1G>T)
c.694+1G>T (n.694+1G>T)
c.785G>T (p.Gly262Val)
c.256-1213G>T (n.256-1213G>T)
c.845G>T (p.Gly282Val)
c.784+1G>T (n.784+1G>T)
c.512G>T (p.Gly171Val)
n.893G>T
c.622+1G>T (n.622+1G>T)
c.832+1G>T (n.832+1G>T)
gnomAD v4
15g.74896333_74896350delCA2629530769MPIc.844+8_844+25del (n.844+8_844+25del)
c.661+8_661+25del (n.661+8_661+25del)
c.694+8_694+25del (n.694+8_694+25del)
c.792_809del (p.His265_Pro270del)
c.256-1206_256-1189del (n.256-1206_256-1189del)
c.852_869del (p.His285_Pro290del)
c.784+8_784+25del (n.784+8_784+25del)
c.519_536del (p.His174_Pro179del)
n.900_917del
c.622+8_622+25del (n.622+8_622+25del)
c.832+8_832+25del (n.832+8_832+25del)
gnomAD v4
15g.74896327T>ACA393176131MPIc.844+2T>A (n.844+2T>A)
c.661+2T>A (n.661+2T>A)
c.694+2T>A (n.694+2T>A)
c.786T>A (p.Gly262=)
c.256-1212T>A (n.256-1212T>A)
c.846T>A (p.Gly282=)
c.784+2T>A (n.784+2T>A)
c.513T>A (p.Gly171=)
n.894T>A
c.622+2T>A (n.622+2T>A)
c.832+2T>A (n.832+2T>A)
15g.74896327T>CCA393176129MPIc.844+2T>C (n.844+2T>C)
c.661+2T>C (n.661+2T>C)
c.694+2T>C (n.694+2T>C)
c.786T>C (p.Gly262=)
c.256-1212T>C (n.256-1212T>C)
c.846T>C (p.Gly282=)
c.784+2T>C (n.784+2T>C)
c.513T>C (p.Gly171=)
n.894T>C
c.622+2T>C (n.622+2T>C)
c.832+2T>C (n.832+2T>C)
ClinVar
15g.74896327T>GCA393176130MPIc.844+2T>G (n.844+2T>G)
c.661+2T>G (n.661+2T>G)
c.694+2T>G (n.694+2T>G)
c.786T>G (p.Gly262=)
c.256-1212T>G (n.256-1212T>G)
c.846T>G (p.Gly282=)
c.784+2T>G (n.784+2T>G)
c.513T>G (p.Gly171=)
n.894T>G
c.622+2T>G (n.622+2T>G)
c.832+2T>G (n.832+2T>G)
ClinVar dbSNP
15g.74896328G>ACA7662554MPIc.844+3G>A (n.844+3G>A)
c.661+3G>A (n.661+3G>A)
c.694+3G>A (n.694+3G>A)
c.787G>A (p.Glu263Lys)
c.256-1211G>A (n.256-1211G>A)
c.847G>A (p.Glu283Lys)
c.784+3G>A (n.784+3G>A)
c.514G>A (p.Glu172Lys)
n.895G>A
c.622+3G>A (n.622+3G>A)
c.832+3G>A (n.832+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896328G>CCA393176132MPIc.844+3G>C (n.844+3G>C)
c.661+3G>C (n.661+3G>C)
c.694+3G>C (n.694+3G>C)
c.787G>C (p.Glu263Gln)
c.256-1211G>C (n.256-1211G>C)
c.847G>C (p.Glu283Gln)
c.784+3G>C (n.784+3G>C)
c.514G>C (p.Glu172Gln)
n.895G>C
c.622+3G>C (n.622+3G>C)
c.832+3G>C (n.832+3G>C)
15g.74896328G=CA2187902022MPIc.844+3G= (n.844+3G=)
c.661+3G= (n.661+3G=)
c.694+3G= (n.694+3G=)
c.787G= (p.Glu263=)
c.256-1211G= (n.256-1211G=)
c.847G= (p.Glu283=)
c.784+3G= (n.784+3G=)
c.514G= (p.Glu172=)
n.895G=
c.622+3G= (n.622+3G=)
c.832+3G= (n.832+3G=)
15g.74896328G>TCA393176133MPIc.844+3G>T (n.844+3G>T)
c.661+3G>T (n.661+3G>T)
c.694+3G>T (n.694+3G>T)
c.787G>T (p.Glu263Ter)
c.256-1211G>T (n.256-1211G>T)
c.847G>T (p.Glu283Ter)
c.784+3G>T (n.784+3G>T)
c.514G>T (p.Glu172Ter)
n.895G>T
c.622+3G>T (n.622+3G>T)
c.832+3G>T (n.832+3G>T)
15g.74896329A>CCA393176134MPIc.844+4A>C (n.844+4A>C)
c.661+4A>C (n.661+4A>C)
c.694+4A>C (n.694+4A>C)
c.788A>C (p.Glu263Ala)
c.256-1210A>C (n.256-1210A>C)
c.848A>C (p.Glu283Ala)
c.784+4A>C (n.784+4A>C)
c.515A>C (p.Glu172Ala)
n.896A>C
c.622+4A>C (n.622+4A>C)
c.832+4A>C (n.832+4A>C)
15g.74896329A>GCA393176135MPIc.844+4A>G (n.844+4A>G)
c.661+4A>G (n.661+4A>G)
c.694+4A>G (n.694+4A>G)
c.788A>G (p.Glu263Gly)
c.256-1210A>G (n.256-1210A>G)
c.848A>G (p.Glu283Gly)
c.784+4A>G (n.784+4A>G)
c.515A>G (p.Glu172Gly)
n.896A>G
c.622+4A>G (n.622+4A>G)
c.832+4A>G (n.832+4A>G)
15g.74896329A>TCA393176136MPIc.844+4A>T (n.844+4A>T)
c.661+4A>T (n.661+4A>T)
c.694+4A>T (n.694+4A>T)
c.788A>T (p.Glu263Val)
c.256-1210A>T (n.256-1210A>T)
c.848A>T (p.Glu283Val)
c.784+4A>T (n.784+4A>T)
c.515A>T (p.Glu172Val)
n.896A>T
c.622+4A>T (n.622+4A>T)
c.832+4A>T (n.832+4A>T)
15g.74896330G>CCA393176137MPIc.844+5G>C (n.844+5G>C)
c.661+5G>C (n.661+5G>C)
c.694+5G>C (n.694+5G>C)
c.789G>C (p.Glu263Asp)
c.256-1209G>C (n.256-1209G>C)
c.849G>C (p.Glu283Asp)
c.784+5G>C (n.784+5G>C)
c.516G>C (p.Glu172Asp)
n.897G>C
c.622+5G>C (n.622+5G>C)
c.832+5G>C (n.832+5G>C)
15g.74896330G>TCA393176138MPIc.844+5G>T (n.844+5G>T)
c.661+5G>T (n.661+5G>T)
c.694+5G>T (n.694+5G>T)
c.789G>T (p.Glu263Asp)
c.256-1209G>T (n.256-1209G>T)
c.849G>T (p.Glu283Asp)
c.784+5G>T (n.784+5G>T)
c.516G>T (p.Glu172Asp)
n.897G>T
c.622+5G>T (n.622+5G>T)
c.832+5G>T (n.832+5G>T)
15g.74896331C>ACA393176139MPIc.844+6C>A (n.844+6C>A)
c.661+6C>A (n.661+6C>A)
c.694+6C>A (n.694+6C>A)
c.790C>A (p.Pro264Thr)
c.256-1208C>A (n.256-1208C>A)
c.850C>A (p.Pro284Thr)
c.784+6C>A (n.784+6C>A)
c.517C>A (p.Pro173Thr)
n.898C>A
c.622+6C>A (n.622+6C>A)
c.832+6C>A (n.832+6C>A)
15g.74896331C=CA2187902024MPIc.844+6C= (n.844+6C=)
c.661+6C= (n.661+6C=)
c.694+6C= (n.694+6C=)
c.790C= (p.Pro264=)
c.256-1208C= (n.256-1208C=)
c.850C= (p.Pro284=)
c.784+6C= (n.784+6C=)
c.517C= (p.Pro173=)
n.898C=
c.622+6C= (n.622+6C=)
c.832+6C= (n.832+6C=)
15g.74896331C>GCA393176140MPIc.844+6C>G (n.844+6C>G)
c.661+6C>G (n.661+6C>G)
c.694+6C>G (n.694+6C>G)
c.790C>G (p.Pro264Ala)
c.256-1208C>G (n.256-1208C>G)
c.850C>G (p.Pro284Ala)
c.784+6C>G (n.784+6C>G)
c.517C>G (p.Pro173Ala)
n.898C>G
c.622+6C>G (n.622+6C>G)
c.832+6C>G (n.832+6C>G)
15g.74896331C>TCA393176141MPIc.844+6C>T (n.844+6C>T)
c.661+6C>T (n.661+6C>T)
c.694+6C>T (n.694+6C>T)
c.790C>T (p.Pro264Ser)
c.256-1208C>T (n.256-1208C>T)
c.850C>T (p.Pro284Ser)
c.784+6C>T (n.784+6C>T)
c.517C>T (p.Pro173Ser)
n.898C>T
c.622+6C>T (n.622+6C>T)
c.832+6C>T (n.832+6C>T)
dbSNP gnomAD v3 gnomAD v4
15g.74896332C>ACA393176144MPIc.844+7C>A (n.844+7C>A)
c.661+7C>A (n.661+7C>A)
c.694+7C>A (n.694+7C>A)
c.791C>A (p.Pro264Gln)
c.256-1207C>A (n.256-1207C>A)
c.851C>A (p.Pro284Gln)
c.784+7C>A (n.784+7C>A)
c.518C>A (p.Pro173Gln)
n.899C>A
c.622+7C>A (n.622+7C>A)
c.832+7C>A (n.832+7C>A)
15g.74896332C>GCA393176143MPIc.844+7C>G (n.844+7C>G)
c.661+7C>G (n.661+7C>G)
c.694+7C>G (n.694+7C>G)
c.791C>G (p.Pro264Arg)
c.256-1207C>G (n.256-1207C>G)
c.851C>G (p.Pro284Arg)
c.784+7C>G (n.784+7C>G)
c.518C>G (p.Pro173Arg)
n.899C>G
c.622+7C>G (n.622+7C>G)
c.832+7C>G (n.832+7C>G)
15g.74896332C>TCA393176142MPIc.844+7C>T (n.844+7C>T)
c.661+7C>T (n.661+7C>T)
c.694+7C>T (n.694+7C>T)
c.791C>T (p.Pro264Leu)
c.256-1207C>T (n.256-1207C>T)
c.851C>T (p.Pro284Leu)
c.784+7C>T (n.784+7C>T)
c.518C>T (p.Pro173Leu)
n.899C>T
c.622+7C>T (n.622+7C>T)
c.832+7C>T (n.832+7C>T)
gnomAD v4
15g.74896334C>ACA393176145MPIc.844+9C>A (n.844+9C>A)
c.661+9C>A (n.661+9C>A)
c.694+9C>A (n.694+9C>A)
c.793C>A (p.His265Asn)
c.256-1205C>A (n.256-1205C>A)
c.853C>A (p.His285Asn)
c.784+9C>A (n.784+9C>A)
c.520C>A (p.His174Asn)
n.901C>A
c.622+9C>A (n.622+9C>A)
c.832+9C>A (n.832+9C>A)
15g.74896334C>GCA393176146MPIc.844+9C>G (n.844+9C>G)
c.661+9C>G (n.661+9C>G)
c.694+9C>G (n.694+9C>G)
c.793C>G (p.His265Asp)
c.256-1205C>G (n.256-1205C>G)
c.853C>G (p.His285Asp)
c.784+9C>G (n.784+9C>G)
c.520C>G (p.His174Asp)
n.901C>G
c.622+9C>G (n.622+9C>G)
c.832+9C>G (n.832+9C>G)
ClinVar dbSNP
15g.74896334C>TCA393176147MPIc.844+9C>T (n.844+9C>T)
c.661+9C>T (n.661+9C>T)
c.694+9C>T (n.694+9C>T)
c.793C>T (p.His265Tyr)
c.256-1205C>T (n.256-1205C>T)
c.853C>T (p.His285Tyr)
c.784+9C>T (n.784+9C>T)
c.520C>T (p.His174Tyr)
n.901C>T
c.622+9C>T (n.622+9C>T)
c.832+9C>T (n.832+9C>T)
gnomAD v4
15g.74896335A>CCA393176148MPIc.844+10A>C (n.844+10A>C)
c.661+10A>C (n.661+10A>C)
c.694+10A>C (n.694+10A>C)
c.794A>C (p.His265Pro)
c.256-1204A>C (n.256-1204A>C)
c.854A>C (p.His285Pro)
c.784+10A>C (n.784+10A>C)
c.521A>C (p.His174Pro)
n.902A>C
c.622+10A>C (n.622+10A>C)
c.832+10A>C (n.832+10A>C)
15g.74896335A>GCA393176149MPIc.844+10A>G (n.844+10A>G)
c.661+10A>G (n.661+10A>G)
c.694+10A>G (n.694+10A>G)
c.794A>G (p.His265Arg)
c.256-1204A>G (n.256-1204A>G)
c.854A>G (p.His285Arg)
c.784+10A>G (n.784+10A>G)
c.521A>G (p.His174Arg)
n.902A>G
c.622+10A>G (n.622+10A>G)
c.832+10A>G (n.832+10A>G)
ClinVar
15g.74896335A>TCA393176150MPIc.844+10A>T (n.844+10A>T)
c.661+10A>T (n.661+10A>T)
c.694+10A>T (n.694+10A>T)
c.794A>T (p.His265Leu)
c.256-1204A>T (n.256-1204A>T)
c.854A>T (p.His285Leu)
c.784+10A>T (n.784+10A>T)
c.521A>T (p.His174Leu)
n.902A>T
c.622+10A>T (n.622+10A>T)
c.832+10A>T (n.832+10A>T)
15g.74896336T>ACA393176151MPIc.844+11T>A (n.844+11T>A)
c.661+11T>A (n.661+11T>A)
c.694+11T>A (n.694+11T>A)
c.795T>A (p.His265Gln)
c.256-1203T>A (n.256-1203T>A)
c.855T>A (p.His285Gln)
c.784+11T>A (n.784+11T>A)
c.522T>A (p.His174Gln)
n.903T>A
c.622+11T>A (n.622+11T>A)
c.832+11T>A (n.832+11T>A)
15g.74896336T>GCA393176152MPIc.844+11T>G (n.844+11T>G)
c.661+11T>G (n.661+11T>G)
c.694+11T>G (n.694+11T>G)
c.795T>G (p.His265Gln)
c.256-1203T>G (n.256-1203T>G)
c.855T>G (p.His285Gln)
c.784+11T>G (n.784+11T>G)
c.522T>G (p.His174Gln)
n.903T>G
c.622+11T>G (n.622+11T>G)
c.832+11T>G (n.832+11T>G)
15g.74896337T>ACA393176153MPIc.844+12T>A (n.844+12T>A)
c.661+12T>A (n.661+12T>A)
c.694+12T>A (n.694+12T>A)
c.796T>A (p.Phe266Ile)
c.256-1202T>A (n.256-1202T>A)
c.856T>A (p.Phe286Ile)
c.784+12T>A (n.784+12T>A)
c.523T>A (p.Phe175Ile)
n.904T>A
c.622+12T>A (n.622+12T>A)
c.832+12T>A (n.832+12T>A)
15g.74896337T>CCA393176154MPIc.844+12T>C (n.844+12T>C)
c.661+12T>C (n.661+12T>C)
c.694+12T>C (n.694+12T>C)
c.796T>C (p.Phe266Leu)
c.256-1202T>C (n.256-1202T>C)
c.856T>C (p.Phe286Leu)
c.784+12T>C (n.784+12T>C)
c.523T>C (p.Phe175Leu)
n.904T>C
c.622+12T>C (n.622+12T>C)
c.832+12T>C (n.832+12T>C)
15g.74896337T>GCA393176155MPIc.844+12T>G (n.844+12T>G)
c.661+12T>G (n.661+12T>G)
c.694+12T>G (n.694+12T>G)
c.796T>G (p.Phe266Val)
c.256-1202T>G (n.256-1202T>G)
c.856T>G (p.Phe286Val)
c.784+12T>G (n.784+12T>G)
c.523T>G (p.Phe175Val)
n.904T>G
c.622+12T>G (n.622+12T>G)
c.832+12T>G (n.832+12T>G)
15g.74896338T>ACA393176156MPIc.844+13T>A (n.844+13T>A)
c.661+13T>A (n.661+13T>A)
c.694+13T>A (n.694+13T>A)
c.797T>A (p.Phe266Tyr)
c.256-1201T>A (n.256-1201T>A)
c.857T>A (p.Phe286Tyr)
c.784+13T>A (n.784+13T>A)
c.524T>A (p.Phe175Tyr)
n.905T>A
c.622+13T>A (n.622+13T>A)
c.832+13T>A (n.832+13T>A)
15g.74896338T>CCA393176157MPIc.844+13T>C (n.844+13T>C)
c.661+13T>C (n.661+13T>C)
c.694+13T>C (n.694+13T>C)
c.797T>C (p.Phe266Ser)
c.256-1201T>C (n.256-1201T>C)
c.857T>C (p.Phe286Ser)
c.784+13T>C (n.784+13T>C)
c.524T>C (p.Phe175Ser)
n.905T>C
c.622+13T>C (n.622+13T>C)
c.832+13T>C (n.832+13T>C)
15g.74896338T>GCA393176158MPIc.844+13T>G (n.844+13T>G)
c.661+13T>G (n.661+13T>G)
c.694+13T>G (n.694+13T>G)
c.797T>G (p.Phe266Cys)
c.256-1201T>G (n.256-1201T>G)
c.857T>G (p.Phe286Cys)
c.784+13T>G (n.784+13T>G)
c.524T>G (p.Phe175Cys)
n.905T>G
c.622+13T>G (n.622+13T>G)
c.832+13T>G (n.832+13T>G)
15g.74896339C>ACA393176159MPIc.844+14C>A (n.844+14C>A)
c.661+14C>A (n.661+14C>A)
c.694+14C>A (n.694+14C>A)
c.798C>A (p.Phe266Leu)
c.256-1200C>A (n.256-1200C>A)
c.858C>A (p.Phe286Leu)
c.784+14C>A (n.784+14C>A)
c.525C>A (p.Phe175Leu)
n.906C>A
c.622+14C>A (n.622+14C>A)
c.832+14C>A (n.832+14C>A)
15g.74896339C=CA2187902028MPIc.844+14C= (n.844+14C=)
c.661+14C= (n.661+14C=)
c.694+14C= (n.694+14C=)
c.798C= (p.Phe266=)
c.256-1200C= (n.256-1200C=)
c.858C= (p.Phe286=)
c.784+14C= (n.784+14C=)
c.525C= (p.Phe175=)
n.906C=
c.622+14C= (n.622+14C=)
c.832+14C= (n.832+14C=)
15g.74896339C>GCA7662555MPIc.844+14C>G (n.844+14C>G)
c.661+14C>G (n.661+14C>G)
c.694+14C>G (n.694+14C>G)
c.798C>G (p.Phe266Leu)
c.256-1200C>G (n.256-1200C>G)
c.858C>G (p.Phe286Leu)
c.784+14C>G (n.784+14C>G)
c.525C>G (p.Phe175Leu)
n.906C>G
c.622+14C>G (n.622+14C>G)
c.832+14C>G (n.832+14C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896339C>TCA7662556MPIc.844+14C>T (n.844+14C>T)
c.661+14C>T (n.661+14C>T)
c.694+14C>T (n.694+14C>T)
c.798C>T (p.Phe266=)
c.256-1200C>T (n.256-1200C>T)
c.858C>T (p.Phe286=)
c.784+14C>T (n.784+14C>T)
c.525C>T (p.Phe175=)
n.906C>T
c.622+14C>T (n.622+14C>T)
c.832+14C>T (n.832+14C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896340A>CCA393176160MPIc.844+15A>C (n.844+15A>C)
c.661+15A>C (n.661+15A>C)
c.694+15A>C (n.694+15A>C)
c.799A>C (p.Ser267Arg)
c.256-1199A>C (n.256-1199A>C)
c.859A>C (p.Ser287Arg)
c.784+15A>C (n.784+15A>C)
c.526A>C (p.Ser176Arg)
n.907A>C
c.622+15A>C (n.622+15A>C)
c.832+15A>C (n.832+15A>C)
15g.74896340A>GCA393176161MPIc.844+15A>G (n.844+15A>G)
c.661+15A>G (n.661+15A>G)
c.694+15A>G (n.694+15A>G)
c.799A>G (p.Ser267Gly)
c.256-1199A>G (n.256-1199A>G)
c.859A>G (p.Ser287Gly)
c.784+15A>G (n.784+15A>G)
c.526A>G (p.Ser176Gly)
n.907A>G
c.622+15A>G (n.622+15A>G)
c.832+15A>G (n.832+15A>G)
15g.74896340A>TCA393176162MPIc.844+15A>T (n.844+15A>T)
c.661+15A>T (n.661+15A>T)
c.694+15A>T (n.694+15A>T)
c.799A>T (p.Ser267Cys)
c.256-1199A>T (n.256-1199A>T)
c.859A>T (p.Ser287Cys)
c.784+15A>T (n.784+15A>T)
c.526A>T (p.Ser176Cys)
n.907A>T
c.622+15A>T (n.622+15A>T)
c.832+15A>T (n.832+15A>T)
15g.74896341G>ACA393176163MPIc.844+16G>A (n.844+16G>A)
c.661+16G>A (n.661+16G>A)
c.694+16G>A (n.694+16G>A)
c.800G>A (p.Ser267Asn)
c.256-1198G>A (n.256-1198G>A)
c.860G>A (p.Ser287Asn)
c.784+16G>A (n.784+16G>A)
c.527G>A (p.Ser176Asn)
n.908G>A
c.622+16G>A (n.622+16G>A)
c.832+16G>A (n.832+16G>A)
15g.74896341G>CCA393176164MPIc.844+16G>C (n.844+16G>C)
c.661+16G>C (n.661+16G>C)
c.694+16G>C (n.694+16G>C)
c.800G>C (p.Ser267Thr)
c.256-1198G>C (n.256-1198G>C)
c.860G>C (p.Ser287Thr)
c.784+16G>C (n.784+16G>C)
c.527G>C (p.Ser176Thr)
n.908G>C
c.622+16G>C (n.622+16G>C)
c.832+16G>C (n.832+16G>C)
15g.74896341G>TCA393176165MPIc.844+16G>T (n.844+16G>T)
c.661+16G>T (n.661+16G>T)
c.694+16G>T (n.694+16G>T)
c.800G>T (p.Ser267Ile)
c.256-1198G>T (n.256-1198G>T)
c.860G>T (p.Ser287Ile)
c.784+16G>T (n.784+16G>T)
c.527G>T (p.Ser176Ile)
n.908G>T
c.622+16G>T (n.622+16G>T)
c.832+16G>T (n.832+16G>T)
15g.74896342C>ACA393176166MPIc.844+17C>A (n.844+17C>A)
c.661+17C>A (n.661+17C>A)
c.694+17C>A (n.694+17C>A)
c.801C>A (p.Ser267Arg)
c.256-1197C>A (n.256-1197C>A)
c.861C>A (p.Ser287Arg)
c.784+17C>A (n.784+17C>A)
c.528C>A (p.Ser176Arg)
n.909C>A
c.622+17C>A (n.622+17C>A)
c.832+17C>A (n.832+17C>A)
15g.74896342C=CA2187902031MPIc.844+17C= (n.844+17C=)
c.661+17C= (n.661+17C=)
c.694+17C= (n.694+17C=)
c.801C= (p.Ser267=)
c.256-1197C= (n.256-1197C=)
c.861C= (p.Ser287=)
c.784+17C= (n.784+17C=)
c.528C= (p.Ser176=)
n.909C=
c.622+17C= (n.622+17C=)
c.832+17C= (n.832+17C=)
15g.74896342C>GCA393176167MPIc.844+17C>G (n.844+17C>G)
c.661+17C>G (n.661+17C>G)
c.694+17C>G (n.694+17C>G)
c.801C>G (p.Ser267Arg)
c.256-1197C>G (n.256-1197C>G)
c.861C>G (p.Ser287Arg)
c.784+17C>G (n.784+17C>G)
c.528C>G (p.Ser176Arg)
n.909C>G
c.622+17C>G (n.622+17C>G)
c.832+17C>G (n.832+17C>G)
15g.74896342C>TCA715671436MPIc.844+17C>T (n.844+17C>T)
c.661+17C>T (n.661+17C>T)
c.694+17C>T (n.694+17C>T)
c.801C>T (p.Ser267=)
c.256-1197C>T (n.256-1197C>T)
c.861C>T (p.Ser287=)
c.784+17C>T (n.784+17C>T)
c.528C>T (p.Ser176=)
n.909C>T
c.622+17C>T (n.622+17C>T)
c.832+17C>T (n.832+17C>T)
dbSNP
15g.74896343A>CCA393176168MPIc.844+18A>C (n.844+18A>C)
c.661+18A>C (n.661+18A>C)
c.694+18A>C (n.694+18A>C)
c.802A>C (p.Ser268Arg)
c.256-1196A>C (n.256-1196A>C)
c.862A>C (p.Ser288Arg)
c.784+18A>C (n.784+18A>C)
c.529A>C (p.Ser177Arg)
n.910A>C
c.622+18A>C (n.622+18A>C)
c.832+18A>C (n.832+18A>C)
15g.74896343A>GCA393176169MPIc.844+18A>G (n.844+18A>G)
c.661+18A>G (n.661+18A>G)
c.694+18A>G (n.694+18A>G)
c.802A>G (p.Ser268Gly)
c.256-1196A>G (n.256-1196A>G)
c.862A>G (p.Ser288Gly)
c.784+18A>G (n.784+18A>G)
c.529A>G (p.Ser177Gly)
n.910A>G
c.622+18A>G (n.622+18A>G)
c.832+18A>G (n.832+18A>G)
gnomAD v4
15g.74896343A>TCA393176170MPIc.844+18A>T (n.844+18A>T)
c.661+18A>T (n.661+18A>T)
c.694+18A>T (n.694+18A>T)
c.802A>T (p.Ser268Cys)
c.256-1196A>T (n.256-1196A>T)
c.862A>T (p.Ser288Cys)
c.784+18A>T (n.784+18A>T)
c.529A>T (p.Ser177Cys)
n.910A>T
c.622+18A>T (n.622+18A>T)
c.832+18A>T (n.832+18A>T)
15g.74896344G>ACA393176171MPIc.844+19G>A (n.844+19G>A)
c.661+19G>A (n.661+19G>A)
c.694+19G>A (n.694+19G>A)
c.803G>A (p.Ser268Asn)
c.256-1195G>A (n.256-1195G>A)
c.863G>A (p.Ser288Asn)
c.784+19G>A (n.784+19G>A)
c.530G>A (p.Ser177Asn)
n.911G>A
c.622+19G>A (n.622+19G>A)
c.832+19G>A (n.832+19G>A)
15g.74896344G>CCA393176172MPIc.844+19G>C (n.844+19G>C)
c.661+19G>C (n.661+19G>C)
c.694+19G>C (n.694+19G>C)
c.803G>C (p.Ser268Thr)
c.256-1195G>C (n.256-1195G>C)
c.863G>C (p.Ser288Thr)
c.784+19G>C (n.784+19G>C)
c.530G>C (p.Ser177Thr)
n.911G>C
c.622+19G>C (n.622+19G>C)
c.832+19G>C (n.832+19G>C)
15g.74896344G>TCA393176173MPIc.844+19G>T (n.844+19G>T)
c.661+19G>T (n.661+19G>T)
c.694+19G>T (n.694+19G>T)
c.803G>T (p.Ser268Ile)
c.256-1195G>T (n.256-1195G>T)
c.863G>T (p.Ser288Ile)
c.784+19G>T (n.784+19G>T)
c.530G>T (p.Ser177Ile)
n.911G>T
c.622+19G>T (n.622+19G>T)
c.832+19G>T (n.832+19G>T)
15g.74896345T>ACA393176174MPIc.844+20T>A (n.844+20T>A)
c.661+20T>A (n.661+20T>A)
c.694+20T>A (n.694+20T>A)
c.804T>A (p.Ser268Arg)
c.256-1194T>A (n.256-1194T>A)
c.864T>A (p.Ser288Arg)
c.784+20T>A (n.784+20T>A)
c.531T>A (p.Ser177Arg)
n.912T>A
c.622+20T>A (n.622+20T>A)
c.832+20T>A (n.832+20T>A)
15g.74896345T>GCA393176175MPIc.844+20T>G (n.844+20T>G)
c.661+20T>G (n.661+20T>G)
c.694+20T>G (n.694+20T>G)
c.804T>G (p.Ser268Arg)
c.256-1194T>G (n.256-1194T>G)
c.864T>G (p.Ser288Arg)
c.784+20T>G (n.784+20T>G)
c.531T>G (p.Ser177Arg)
n.912T>G
c.622+20T>G (n.622+20T>G)
c.832+20T>G (n.832+20T>G)
15g.74896346G>ACA393176176MPIc.844+21G>A (n.844+21G>A)
c.661+21G>A (n.661+21G>A)
c.694+21G>A (n.694+21G>A)
c.805G>A (p.Glu269Lys)
c.256-1193G>A (n.256-1193G>A)
c.865G>A (p.Glu289Lys)
c.784+21G>A (n.784+21G>A)
c.532G>A (p.Glu178Lys)
n.913G>A
c.622+21G>A (n.622+21G>A)
c.832+21G>A (n.832+21G>A)
15g.74896346G>CCA393176177MPIc.844+21G>C (n.844+21G>C)
c.661+21G>C (n.661+21G>C)
c.694+21G>C (n.694+21G>C)
c.805G>C (p.Glu269Gln)
c.256-1193G>C (n.256-1193G>C)
c.865G>C (p.Glu289Gln)
c.784+21G>C (n.784+21G>C)
c.532G>C (p.Glu178Gln)
n.913G>C
c.622+21G>C (n.622+21G>C)
c.832+21G>C (n.832+21G>C)
15g.74896346G>TCA393176178MPIc.844+21G>T (n.844+21G>T)
c.661+21G>T (n.661+21G>T)
c.694+21G>T (n.694+21G>T)
c.805G>T (p.Glu269Ter)
c.256-1193G>T (n.256-1193G>T)
c.865G>T (p.Glu289Ter)
c.784+21G>T (n.784+21G>T)
c.532G>T (p.Glu178Ter)
n.913G>T
c.622+21G>T (n.622+21G>T)
c.832+21G>T (n.832+21G>T)
15g.74896347A>CCA393176179MPIc.844+22A>C (n.844+22A>C)
c.661+22A>C (n.661+22A>C)
c.694+22A>C (n.694+22A>C)
c.806A>C (p.Glu269Ala)
c.256-1192A>C (n.256-1192A>C)
c.866A>C (p.Glu289Ala)
c.784+22A>C (n.784+22A>C)
c.533A>C (p.Glu178Ala)
n.914A>C
c.622+22A>C (n.622+22A>C)
c.832+22A>C (n.832+22A>C)
15g.74896347A>GCA393176180MPIc.844+22A>G (n.844+22A>G)
c.661+22A>G (n.661+22A>G)
c.694+22A>G (n.694+22A>G)
c.806A>G (p.Glu269Gly)
c.256-1192A>G (n.256-1192A>G)
c.866A>G (p.Glu289Gly)
c.784+22A>G (n.784+22A>G)
c.533A>G (p.Glu178Gly)
n.914A>G
c.622+22A>G (n.622+22A>G)
c.832+22A>G (n.832+22A>G)
15g.74896347A>TCA393176181MPIc.844+22A>T (n.844+22A>T)
c.661+22A>T (n.661+22A>T)
c.694+22A>T (n.694+22A>T)
c.806A>T (p.Glu269Val)
c.256-1192A>T (n.256-1192A>T)
c.866A>T (p.Glu289Val)
c.784+22A>T (n.784+22A>T)
c.533A>T (p.Glu178Val)
n.914A>T
c.622+22A>T (n.622+22A>T)
c.832+22A>T (n.832+22A>T)
15g.74896348G>ACA619413164MPIc.844+23G>A (n.844+23G>A)
c.661+23G>A (n.661+23G>A)
c.694+23G>A (n.694+23G>A)
c.807G>A (p.Glu269=)
c.256-1191G>A (n.256-1191G>A)
c.867G>A (p.Glu289=)
c.784+23G>A (n.784+23G>A)
c.534G>A (p.Glu178=)
n.915G>A
c.622+23G>A (n.622+23G>A)
c.832+23G>A (n.832+23G>A)
dbSNP gnomAD v2 gnomAD v4
15g.74896348G>CCA272825560MPIc.844+23G>C (n.844+23G>C)
c.661+23G>C (n.661+23G>C)
c.694+23G>C (n.694+23G>C)
c.807G>C (p.Glu269Asp)
c.256-1191G>C (n.256-1191G>C)
c.867G>C (p.Glu289Asp)
c.784+23G>C (n.784+23G>C)
c.534G>C (p.Glu178Asp)
n.915G>C
c.622+23G>C (n.622+23G>C)
c.832+23G>C (n.832+23G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896348G=CA2187902034MPIc.844+23G= (n.844+23G=)
c.661+23G= (n.661+23G=)
c.694+23G= (n.694+23G=)
c.807G= (p.Glu269=)
c.256-1191G= (n.256-1191G=)
c.867G= (p.Glu289=)
c.784+23G= (n.784+23G=)
c.534G= (p.Glu178=)
n.915G=
c.622+23G= (n.622+23G=)
c.832+23G= (n.832+23G=)
15g.74896348G>TCA393176182MPIc.844+23G>T (n.844+23G>T)
c.661+23G>T (n.661+23G>T)
c.694+23G>T (n.694+23G>T)
c.807G>T (p.Glu269Asp)
c.256-1191G>T (n.256-1191G>T)
c.867G>T (p.Glu289Asp)
c.784+23G>T (n.784+23G>T)
c.534G>T (p.Glu178Asp)
n.915G>T
c.622+23G>T (n.622+23G>T)
c.832+23G>T (n.832+23G>T)
gnomAD v4
15g.74896349C>ACA393176183MPIc.844+24C>A (n.844+24C>A)
c.661+24C>A (n.661+24C>A)
c.694+24C>A (n.694+24C>A)
c.808C>A (p.Pro270Thr)
c.256-1190C>A (n.256-1190C>A)
c.868C>A (p.Pro290Thr)
c.784+24C>A (n.784+24C>A)
c.535C>A (p.Pro179Thr)
n.916C>A
c.622+24C>A (n.622+24C>A)
c.832+24C>A (n.832+24C>A)
15g.74896349C>GCA393176184MPIc.844+24C>G (n.844+24C>G)
c.661+24C>G (n.661+24C>G)
c.694+24C>G (n.694+24C>G)
c.808C>G (p.Pro270Ala)
c.256-1190C>G (n.256-1190C>G)
c.868C>G (p.Pro290Ala)
c.784+24C>G (n.784+24C>G)
c.535C>G (p.Pro179Ala)
n.916C>G
c.622+24C>G (n.622+24C>G)
c.832+24C>G (n.832+24C>G)
15g.74896349C>TCA393176185MPIc.844+24C>T (n.844+24C>T)
c.661+24C>T (n.661+24C>T)
c.694+24C>T (n.694+24C>T)
c.808C>T (p.Pro270Ser)
c.256-1190C>T (n.256-1190C>T)
c.868C>T (p.Pro290Ser)
c.784+24C>T (n.784+24C>T)
c.535C>T (p.Pro179Ser)
n.916C>T
c.622+24C>T (n.622+24C>T)
c.832+24C>T (n.832+24C>T)
gnomAD v4
15g.74896350C>ACA393176188MPIc.844+25C>A (n.844+25C>A)
c.661+25C>A (n.661+25C>A)
c.694+25C>A (n.694+25C>A)
c.809C>A (p.Pro270His)
c.256-1189C>A (n.256-1189C>A)
c.869C>A (p.Pro290His)
c.784+25C>A (n.784+25C>A)
c.536C>A (p.Pro179His)
n.917C>A
c.622+25C>A (n.622+25C>A)
c.832+25C>A (n.832+25C>A)
15g.74896350C>GCA393176187MPIc.844+25C>G (n.844+25C>G)
c.661+25C>G (n.661+25C>G)
c.694+25C>G (n.694+25C>G)
c.809C>G (p.Pro270Arg)
c.256-1189C>G (n.256-1189C>G)
c.869C>G (p.Pro290Arg)
c.784+25C>G (n.784+25C>G)
c.536C>G (p.Pro179Arg)
n.917C>G
c.622+25C>G (n.622+25C>G)
c.832+25C>G (n.832+25C>G)
15g.74896350C>TCA393176186MPIc.844+25C>T (n.844+25C>T)
c.661+25C>T (n.661+25C>T)
c.694+25C>T (n.694+25C>T)
c.809C>T (p.Pro270Leu)
c.256-1189C>T (n.256-1189C>T)
c.869C>T (p.Pro290Leu)
c.784+25C>T (n.784+25C>T)
c.536C>T (p.Pro179Leu)
n.917C>T
c.622+25C>T (n.622+25C>T)
c.832+25C>T (n.832+25C>T)
15g.74896352C>ACA393176189MPIc.844+27C>A (n.844+27C>A)
c.661+27C>A (n.661+27C>A)
c.694+27C>A (n.694+27C>A)
c.811C>A (p.His271Asn)
c.256-1187C>A (n.256-1187C>A)
c.871C>A (p.His291Asn)
c.784+27C>A (n.784+27C>A)
c.538C>A (p.His180Asn)
n.919C>A
c.622+27C>A (n.622+27C>A)
c.832+27C>A (n.832+27C>A)
15g.74896352C>GCA393176191MPIc.844+27C>G (n.844+27C>G)
c.661+27C>G (n.661+27C>G)
c.694+27C>G (n.694+27C>G)
c.811C>G (p.His271Asp)
c.256-1187C>G (n.256-1187C>G)
c.871C>G (p.His291Asp)
c.784+27C>G (n.784+27C>G)
c.538C>G (p.His180Asp)
n.919C>G
c.622+27C>G (n.622+27C>G)
c.832+27C>G (n.832+27C>G)
15g.74896352C>TCA393176190MPIc.844+27C>T (n.844+27C>T)
c.661+27C>T (n.661+27C>T)
c.694+27C>T (n.694+27C>T)
c.811C>T (p.His271Tyr)
c.256-1187C>T (n.256-1187C>T)
c.871C>T (p.His291Tyr)
c.784+27C>T (n.784+27C>T)
c.538C>T (p.His180Tyr)
n.919C>T
c.622+27C>T (n.622+27C>T)
c.832+27C>T (n.832+27C>T)
gnomAD v4
15g.74896353A>CCA393176192MPIc.844+28A>C (n.844+28A>C)
c.661+28A>C (n.661+28A>C)
c.694+28A>C (n.694+28A>C)
c.812A>C (p.His271Pro)
c.256-1186A>C (n.256-1186A>C)
c.872A>C (p.His291Pro)
c.784+28A>C (n.784+28A>C)
c.539A>C (p.His180Pro)
n.920A>C
c.622+28A>C (n.622+28A>C)
c.832+28A>C (n.832+28A>C)
15g.74896353A>GCA393176193MPIc.844+28A>G (n.844+28A>G)
c.661+28A>G (n.661+28A>G)
c.694+28A>G (n.694+28A>G)
c.812A>G (p.His271Arg)
c.256-1186A>G (n.256-1186A>G)
c.872A>G (p.His291Arg)
c.784+28A>G (n.784+28A>G)
c.539A>G (p.His180Arg)
n.920A>G
c.622+28A>G (n.622+28A>G)
c.832+28A>G (n.832+28A>G)
15g.74896353A>TCA393176194MPIc.844+28A>T (n.844+28A>T)
c.661+28A>T (n.661+28A>T)
c.694+28A>T (n.694+28A>T)
c.812A>T (p.His271Leu)
c.256-1186A>T (n.256-1186A>T)
c.872A>T (p.His291Leu)
c.784+28A>T (n.784+28A>T)
c.539A>T (p.His180Leu)
n.920A>T
c.622+28A>T (n.622+28A>T)
c.832+28A>T (n.832+28A>T)
15g.74896354C>ACA393176195MPIc.844+29C>A (n.844+29C>A)
c.661+29C>A (n.661+29C>A)
c.694+29C>A (n.694+29C>A)
c.813C>A (p.His271Gln)
c.256-1185C>A (n.256-1185C>A)
c.873C>A (p.His291Gln)
c.784+29C>A (n.784+29C>A)
c.540C>A (p.His180Gln)
n.921C>A
c.622+29C>A (n.622+29C>A)
c.832+29C>A (n.832+29C>A)
15g.74896354C=CA2187902036MPIc.844+29C= (n.844+29C=)
c.661+29C= (n.661+29C=)
c.694+29C= (n.694+29C=)
c.813C= (p.His271=)
c.256-1185C= (n.256-1185C=)
c.873C= (p.His291=)
c.784+29C= (n.784+29C=)
c.540C= (p.His180=)
n.921C=
c.622+29C= (n.622+29C=)
c.832+29C= (n.832+29C=)
15g.74896354C>GCA393176196MPIc.844+29C>G (n.844+29C>G)
c.661+29C>G (n.661+29C>G)
c.694+29C>G (n.694+29C>G)
c.813C>G (p.His271Gln)
c.256-1185C>G (n.256-1185C>G)
c.873C>G (p.His291Gln)
c.784+29C>G (n.784+29C>G)
c.540C>G (p.His180Gln)
n.921C>G
c.622+29C>G (n.622+29C>G)
c.832+29C>G (n.832+29C>G)
dbSNP gnomAD v2 gnomAD v4
15g.74896355T>ACA393176197MPIc.844+30T>A (n.844+30T>A)
c.661+30T>A (n.661+30T>A)
c.694+30T>A (n.694+30T>A)
c.814T>A (p.Cys272Ser)
c.256-1184T>A (n.256-1184T>A)
c.874T>A (p.Cys292Ser)
c.784+30T>A (n.784+30T>A)
c.541T>A (p.Cys181Ser)
n.922T>A
c.622+30T>A (n.622+30T>A)
c.832+30T>A (n.832+30T>A)
15g.74896355T>CCA393176198MPIc.844+30T>C (n.844+30T>C)
c.661+30T>C (n.661+30T>C)
c.694+30T>C (n.694+30T>C)
c.814T>C (p.Cys272Arg)
c.256-1184T>C (n.256-1184T>C)
c.874T>C (p.Cys292Arg)
c.784+30T>C (n.784+30T>C)
c.541T>C (p.Cys181Arg)
n.922T>C
c.622+30T>C (n.622+30T>C)
c.832+30T>C (n.832+30T>C)
15g.74896355T>GCA393176199MPIc.844+30T>G (n.844+30T>G)
c.661+30T>G (n.661+30T>G)
c.694+30T>G (n.694+30T>G)
c.814T>G (p.Cys272Gly)
c.256-1184T>G (n.256-1184T>G)
c.874T>G (p.Cys292Gly)
c.784+30T>G (n.784+30T>G)
c.541T>G (p.Cys181Gly)
n.922T>G
c.622+30T>G (n.622+30T>G)
c.832+30T>G (n.832+30T>G)
15g.74896356G>ACA393176200MPIc.844+31G>A (n.844+31G>A)
c.661+31G>A (n.661+31G>A)
c.694+31G>A (n.694+31G>A)
c.815G>A (p.Cys272Tyr)
c.256-1183G>A (n.256-1183G>A)
c.875G>A (p.Cys292Tyr)
c.784+31G>A (n.784+31G>A)
c.542G>A (p.Cys181Tyr)
n.923G>A
c.622+31G>A (n.622+31G>A)
c.832+31G>A (n.832+31G>A)
dbSNP gnomAD v2 gnomAD v4
15g.74896356G>CCA393176201MPIc.844+31G>C (n.844+31G>C)
c.661+31G>C (n.661+31G>C)
c.694+31G>C (n.694+31G>C)
c.815G>C (p.Cys272Ser)
c.256-1183G>C (n.256-1183G>C)
c.875G>C (p.Cys292Ser)
c.784+31G>C (n.784+31G>C)
c.542G>C (p.Cys181Ser)
n.923G>C
c.622+31G>C (n.622+31G>C)
c.832+31G>C (n.832+31G>C)
15g.74896356G=CA2187902039MPIc.844+31G= (n.844+31G=)
c.661+31G= (n.661+31G=)
c.694+31G= (n.694+31G=)
c.815G= (p.Cys272=)
c.256-1183G= (n.256-1183G=)
c.875G= (p.Cys292=)
c.784+31G= (n.784+31G=)
c.542G= (p.Cys181=)
n.923G=
c.622+31G= (n.622+31G=)
c.832+31G= (n.832+31G=)
15g.74896356G>TCA393176202MPIc.844+31G>T (n.844+31G>T)
c.661+31G>T (n.661+31G>T)
c.694+31G>T (n.694+31G>T)
c.815G>T (p.Cys272Phe)
c.256-1183G>T (n.256-1183G>T)
c.875G>T (p.Cys292Phe)
c.784+31G>T (n.784+31G>T)
c.542G>T (p.Cys181Phe)
n.923G>T
c.622+31G>T (n.622+31G>T)
c.832+31G>T (n.832+31G>T)
15g.74896356_74896357delinsGCCA2187902041MPIc.844+31_844+32delinsGC (n.844+31_844+32delinsGC)
c.661+31_661+32delinsGC (n.661+31_661+32delinsGC)
c.694+31_694+32delinsGC (n.694+31_694+32delinsGC)
c.815_816delinsGC (p.Cys272=)
c.256-1183_256-1182delinsGC (n.256-1183_256-1182delinsGC)
c.875_876delinsGC (p.Cys292=)
c.784+31_784+32delinsGC (n.784+31_784+32delinsGC)
c.542_543delinsGC (p.Cys181=)
n.923_924delinsGC
c.622+31_622+32delinsGC (n.622+31_622+32delinsGC)
c.832+31_832+32delinsGC (n.832+31_832+32delinsGC)
15g.74896357C>ACA393176203MPIc.844+32C>A (n.844+32C>A)
c.661+32C>A (n.661+32C>A)
c.694+32C>A (n.694+32C>A)
c.816C>A (p.Cys272Ter)
c.256-1182C>A (n.256-1182C>A)
c.876C>A (p.Cys292Ter)
c.784+32C>A (n.784+32C>A)
c.543C>A (p.Cys181Ter)
n.924C>A
c.622+32C>A (n.622+32C>A)
c.832+32C>A (n.832+32C>A)
15g.74896357C>GCA393176204MPIc.844+32C>G (n.844+32C>G)
c.661+32C>G (n.661+32C>G)
c.694+32C>G (n.694+32C>G)
c.816C>G (p.Cys272Trp)
c.256-1182C>G (n.256-1182C>G)
c.876C>G (p.Cys292Trp)
c.784+32C>G (n.784+32C>G)
c.543C>G (p.Cys181Trp)
n.924C>G
c.622+32C>G (n.622+32C>G)
c.832+32C>G (n.832+32C>G)
15g.74896358delCA971521411MPIc.844+33del (n.844+33del)
c.661+33del (n.661+33del)
c.694+33del (n.694+33del)
c.817del (p.His273IlefsTer28)
c.256-1181del (n.256-1181del)
c.877del (p.His293IlefsTer28)
c.784+33del (n.784+33del)
c.544del (p.His182IlefsTer28)
n.925del
c.622+33del (n.622+33del)
c.832+33del (n.832+33del)
dbSNP gnomAD v3 gnomAD v4
15g.74896359_74896363delCA2629530796MPIc.844+34_844+38del (n.844+34_844+38del)
c.661+34_661+38del (n.661+34_661+38del)
c.694+34_694+38del (n.694+34_694+38del)
c.818_822del (p.His273LeufsTer29)
c.256-1180_256-1176del (n.256-1180_256-1176del)
c.878_882del (p.His293LeufsTer29)
c.784+34_784+38del (n.784+34_784+38del)
c.545_549del (p.His182LeufsTer29)
n.926_930del
c.622+34_622+38del (n.622+34_622+38del)
c.832+34_832+38del (n.832+34_832+38del)
gnomAD v4
15g.74896358C>ACA393176207MPIc.844+33C>A (n.844+33C>A)
c.661+33C>A (n.661+33C>A)
c.694+33C>A (n.694+33C>A)
c.817C>A (p.His273Asn)
c.256-1181C>A (n.256-1181C>A)
c.877C>A (p.His293Asn)
c.784+33C>A (n.784+33C>A)
c.544C>A (p.His182Asn)
n.925C>A
c.622+33C>A (n.622+33C>A)
c.832+33C>A (n.832+33C>A)
15g.74896358C>GCA393176205MPIc.844+33C>G (n.844+33C>G)
c.661+33C>G (n.661+33C>G)
c.694+33C>G (n.694+33C>G)
c.817C>G (p.His273Asp)
c.256-1181C>G (n.256-1181C>G)
c.877C>G (p.His293Asp)
c.784+33C>G (n.784+33C>G)
c.544C>G (p.His182Asp)
n.925C>G
c.622+33C>G (n.622+33C>G)
c.832+33C>G (n.832+33C>G)
15g.74896358C>TCA393176206MPIc.844+33C>T (n.844+33C>T)
c.661+33C>T (n.661+33C>T)
c.694+33C>T (n.694+33C>T)
c.817C>T (p.His273Tyr)
c.256-1181C>T (n.256-1181C>T)
c.877C>T (p.His293Tyr)
c.784+33C>T (n.784+33C>T)
c.544C>T (p.His182Tyr)
n.925C>T
c.622+33C>T (n.622+33C>T)
c.832+33C>T (n.832+33C>T)
15g.74896359A>CCA393176208MPIc.844+34A>C (n.844+34A>C)
c.661+34A>C (n.661+34A>C)
c.694+34A>C (n.694+34A>C)
c.818A>C (p.His273Pro)
c.256-1180A>C (n.256-1180A>C)
c.878A>C (p.His293Pro)
c.784+34A>C (n.784+34A>C)
c.545A>C (p.His182Pro)
n.926A>C
c.622+34A>C (n.622+34A>C)
c.832+34A>C (n.832+34A>C)
15g.74896359A>GCA393176209MPIc.844+34A>G (n.844+34A>G)
c.661+34A>G (n.661+34A>G)
c.694+34A>G (n.694+34A>G)
c.818A>G (p.His273Arg)
c.256-1180A>G (n.256-1180A>G)
c.878A>G (p.His293Arg)
c.784+34A>G (n.784+34A>G)
c.545A>G (p.His182Arg)
n.926A>G
c.622+34A>G (n.622+34A>G)
c.832+34A>G (n.832+34A>G)
gnomAD v4
15g.74896359A>TCA393176210MPIc.844+34A>T (n.844+34A>T)
c.661+34A>T (n.661+34A>T)
c.694+34A>T (n.694+34A>T)
c.818A>T (p.His273Leu)
c.256-1180A>T (n.256-1180A>T)
c.878A>T (p.His293Leu)
c.784+34A>T (n.784+34A>T)
c.545A>T (p.His182Leu)
n.926A>T
c.622+34A>T (n.622+34A>T)
c.832+34A>T (n.832+34A>T)
15g.74896360T>ACA393176211MPIc.844+35T>A (n.844+35T>A)
c.661+35T>A (n.661+35T>A)
c.694+35T>A (n.694+35T>A)
c.819T>A (p.His273Gln)
c.256-1179T>A (n.256-1179T>A)
c.879T>A (p.His293Gln)
c.784+35T>A (n.784+35T>A)
c.546T>A (p.His182Gln)
n.927T>A
c.622+35T>A (n.622+35T>A)
c.832+35T>A (n.832+35T>A)
15g.74896360T>CCA2629530800MPIc.844+35T>C (n.844+35T>C)
c.661+35T>C (n.661+35T>C)
c.694+35T>C (n.694+35T>C)
c.819T>C (p.His273=)
c.256-1179T>C (n.256-1179T>C)
c.879T>C (p.His293=)
c.784+35T>C (n.784+35T>C)
c.546T>C (p.His182=)
n.927T>C
c.622+35T>C (n.622+35T>C)
c.832+35T>C (n.832+35T>C)
gnomAD v4
15g.74896360T>GCA393176212MPIc.844+35T>G (n.844+35T>G)
c.661+35T>G (n.661+35T>G)
c.694+35T>G (n.694+35T>G)
c.819T>G (p.His273Gln)
c.256-1179T>G (n.256-1179T>G)
c.879T>G (p.His293Gln)
c.784+35T>G (n.784+35T>G)
c.546T>G (p.His182Gln)
n.927T>G
c.622+35T>G (n.622+35T>G)
c.832+35T>G (n.832+35T>G)
15g.74896361C>ACA393176213MPIc.844+36C>A (n.844+36C>A)
c.661+36C>A (n.661+36C>A)
c.694+36C>A (n.694+36C>A)
c.820C>A (p.Pro274Thr)
c.256-1178C>A (n.256-1178C>A)
c.880C>A (p.Pro294Thr)
c.784+36C>A (n.784+36C>A)
c.547C>A (p.Pro183Thr)
n.928C>A
c.622+36C>A (n.622+36C>A)
c.832+36C>A (n.832+36C>A)
15g.74896361C=CA2187902043MPIc.844+36C= (n.844+36C=)
c.661+36C= (n.661+36C=)
c.694+36C= (n.694+36C=)
c.820C= (p.Pro274=)
c.256-1178C= (n.256-1178C=)
c.880C= (p.Pro294=)
c.784+36C= (n.784+36C=)
c.547C= (p.Pro183=)
n.928C=
c.622+36C= (n.622+36C=)
c.832+36C= (n.832+36C=)
15g.74896361C>GCA393176214MPIc.844+36C>G (n.844+36C>G)
c.661+36C>G (n.661+36C>G)
c.694+36C>G (n.694+36C>G)
c.820C>G (p.Pro274Ala)
c.256-1178C>G (n.256-1178C>G)
c.880C>G (p.Pro294Ala)
c.784+36C>G (n.784+36C>G)
c.547C>G (p.Pro183Ala)
n.928C>G
c.622+36C>G (n.622+36C>G)
c.832+36C>G (n.832+36C>G)
15g.74896361C>TCA393176215MPIc.844+36C>T (n.844+36C>T)
c.661+36C>T (n.661+36C>T)
c.694+36C>T (n.694+36C>T)
c.820C>T (p.Pro274Ser)
c.256-1178C>T (n.256-1178C>T)
c.880C>T (p.Pro294Ser)
c.784+36C>T (n.784+36C>T)
c.547C>T (p.Pro183Ser)
n.928C>T
c.622+36C>T (n.622+36C>T)
c.832+36C>T (n.832+36C>T)
dbSNP
15g.74896362C>ACA393176216MPIc.844+37C>A (n.844+37C>A)
c.661+37C>A (n.661+37C>A)
c.694+37C>A (n.694+37C>A)
c.821C>A (p.Pro274His)
c.256-1177C>A (n.256-1177C>A)
c.881C>A (p.Pro294His)
c.784+37C>A (n.784+37C>A)
c.548C>A (p.Pro183His)
n.929C>A
c.622+37C>A (n.622+37C>A)
c.832+37C>A (n.832+37C>A)
15g.74896362C>GCA393176217MPIc.844+37C>G (n.844+37C>G)
c.661+37C>G (n.661+37C>G)
c.694+37C>G (n.694+37C>G)
c.821C>G (p.Pro274Arg)
c.256-1177C>G (n.256-1177C>G)
c.881C>G (p.Pro294Arg)
c.784+37C>G (n.784+37C>G)
c.548C>G (p.Pro183Arg)
n.929C>G
c.622+37C>G (n.622+37C>G)
c.832+37C>G (n.832+37C>G)
15g.74896362C>TCA393176218MPIc.844+37C>T (n.844+37C>T)
c.661+37C>T (n.661+37C>T)
c.694+37C>T (n.694+37C>T)
c.821C>T (p.Pro274Leu)
c.256-1177C>T (n.256-1177C>T)
c.881C>T (p.Pro294Leu)
c.784+37C>T (n.784+37C>T)
c.548C>T (p.Pro183Leu)
n.929C>T
c.622+37C>T (n.622+37C>T)
c.832+37C>T (n.832+37C>T)
15g.74896364T>ACA393176221MPIc.844+39T>A (n.844+39T>A)
c.661+39T>A (n.661+39T>A)
c.694+39T>A (n.694+39T>A)
c.823T>A (p.Cys275Ser)
c.256-1175T>A (n.256-1175T>A)
c.883T>A (p.Cys295Ser)
c.784+39T>A (n.784+39T>A)
c.550T>A (p.Cys184Ser)
n.931T>A
c.622+39T>A (n.622+39T>A)
c.832+39T>A (n.832+39T>A)
15g.74896364T>CCA393176220MPIc.844+39T>C (n.844+39T>C)
c.661+39T>C (n.661+39T>C)
c.694+39T>C (n.694+39T>C)
c.823T>C (p.Cys275Arg)
c.256-1175T>C (n.256-1175T>C)
c.883T>C (p.Cys295Arg)
c.784+39T>C (n.784+39T>C)
c.550T>C (p.Cys184Arg)
n.931T>C
c.622+39T>C (n.622+39T>C)
c.832+39T>C (n.832+39T>C)
15g.74896364T>GCA393176219MPIc.844+39T>G (n.844+39T>G)
c.661+39T>G (n.661+39T>G)
c.694+39T>G (n.694+39T>G)
c.823T>G (p.Cys275Gly)
c.256-1175T>G (n.256-1175T>G)
c.883T>G (p.Cys295Gly)
c.784+39T>G (n.784+39T>G)
c.550T>G (p.Cys184Gly)
n.931T>G
c.622+39T>G (n.622+39T>G)
c.832+39T>G (n.832+39T>G)
15g.74896365G>ACA393176222MPIc.844+40G>A (n.844+40G>A)
c.661+40G>A (n.661+40G>A)
c.694+40G>A (n.694+40G>A)
c.824G>A (p.Cys275Tyr)
c.256-1174G>A (n.256-1174G>A)
c.884G>A (p.Cys295Tyr)
c.784+40G>A (n.784+40G>A)
c.551G>A (p.Cys184Tyr)
n.932G>A
c.622+40G>A (n.622+40G>A)
c.832+40G>A (n.832+40G>A)
15g.74896365G>CCA393176223MPIc.844+40G>C (n.844+40G>C)
c.661+40G>C (n.661+40G>C)
c.694+40G>C (n.694+40G>C)
c.824G>C (p.Cys275Ser)
c.256-1174G>C (n.256-1174G>C)
c.884G>C (p.Cys295Ser)
c.784+40G>C (n.784+40G>C)
c.551G>C (p.Cys184Ser)
n.932G>C
c.622+40G>C (n.622+40G>C)
c.832+40G>C (n.832+40G>C)
dbSNP
15g.74896365G=CA2187902046MPIc.844+40G= (n.844+40G=)
c.661+40G= (n.661+40G=)
c.694+40G= (n.694+40G=)
c.824G= (p.Cys275=)
c.256-1174G= (n.256-1174G=)
c.884G= (p.Cys295=)
c.784+40G= (n.784+40G=)
c.551G= (p.Cys184=)
n.932G=
c.622+40G= (n.622+40G=)
c.832+40G= (n.832+40G=)
15g.74896365G>TCA393176224MPIc.844+40G>T (n.844+40G>T)
c.661+40G>T (n.661+40G>T)
c.694+40G>T (n.694+40G>T)
c.824G>T (p.Cys275Phe)
c.256-1174G>T (n.256-1174G>T)
c.884G>T (p.Cys295Phe)
c.784+40G>T (n.784+40G>T)
c.551G>T (p.Cys184Phe)
n.932G>T
c.622+40G>T (n.622+40G>T)
c.832+40G>T (n.832+40G>T)
15g.74896366C>ACA393176225MPIc.844+41C>A (n.844+41C>A)
c.661+41C>A (n.661+41C>A)
c.694+41C>A (n.694+41C>A)
c.825C>A (p.Cys275Ter)
c.256-1173C>A (n.256-1173C>A)
c.885C>A (p.Cys295Ter)
c.784+41C>A (n.784+41C>A)
c.552C>A (p.Cys184Ter)
n.933C>A
c.622+41C>A (n.622+41C>A)
c.832+41C>A (n.832+41C>A)
15g.74896366C=CA2187902051MPIc.844+41C= (n.844+41C=)
c.661+41C= (n.661+41C=)
c.694+41C= (n.694+41C=)
c.825C= (p.Cys275=)
c.256-1173C= (n.256-1173C=)
c.885C= (p.Cys295=)
c.784+41C= (n.784+41C=)
c.552C= (p.Cys184=)
n.933C=
c.622+41C= (n.622+41C=)
c.832+41C= (n.832+41C=)
15g.74896366C>GCA393176226MPIc.844+41C>G (n.844+41C>G)
c.661+41C>G (n.661+41C>G)
c.694+41C>G (n.694+41C>G)
c.825C>G (p.Cys275Trp)
c.256-1173C>G (n.256-1173C>G)
c.885C>G (p.Cys295Trp)
c.784+41C>G (n.784+41C>G)
c.552C>G (p.Cys184Trp)
n.933C>G
c.622+41C>G (n.622+41C>G)
c.832+41C>G (n.832+41C>G)
dbSNP gnomAD v2 gnomAD v4
15g.74896367T>ACA393176229MPIc.844+42T>A (n.844+42T>A)
c.661+42T>A (n.661+42T>A)
c.694+42T>A (n.694+42T>A)
c.826T>A (p.Trp276Arg)
c.256-1172T>A (n.256-1172T>A)
c.886T>A (p.Trp296Arg)
c.784+42T>A (n.784+42T>A)
c.553T>A (p.Trp185Arg)
n.934T>A
c.622+42T>A (n.622+42T>A)
c.832+42T>A (n.832+42T>A)
15g.74896367T>CCA393176228MPIc.844+42T>C (n.844+42T>C)
c.661+42T>C (n.661+42T>C)
c.694+42T>C (n.694+42T>C)
c.826T>C (p.Trp276Arg)
c.256-1172T>C (n.256-1172T>C)
c.886T>C (p.Trp296Arg)
c.784+42T>C (n.784+42T>C)
c.553T>C (p.Trp185Arg)
n.934T>C
c.622+42T>C (n.622+42T>C)
c.832+42T>C (n.832+42T>C)
15g.74896367T>GCA393176227MPIc.844+42T>G (n.844+42T>G)
c.661+42T>G (n.661+42T>G)
c.694+42T>G (n.694+42T>G)
c.826T>G (p.Trp276Gly)
c.256-1172T>G (n.256-1172T>G)
c.886T>G (p.Trp296Gly)
c.784+42T>G (n.784+42T>G)
c.553T>G (p.Trp185Gly)
n.934T>G
c.622+42T>G (n.622+42T>G)
c.832+42T>G (n.832+42T>G)
gnomAD v4
15g.74896368G>ACA393176230MPIc.844+43G>A (n.844+43G>A)
c.661+43G>A (n.661+43G>A)
c.694+43G>A (n.694+43G>A)
c.827G>A (p.Trp276Ter)
c.256-1171G>A (n.256-1171G>A)
c.887G>A (p.Trp296Ter)
c.784+43G>A (n.784+43G>A)
c.554G>A (p.Trp185Ter)
n.935G>A
c.622+43G>A (n.622+43G>A)
c.832+43G>A (n.832+43G>A)
gnomAD v4
15g.74896368G>CCA393176231MPIc.844+43G>C (n.844+43G>C)
c.661+43G>C (n.661+43G>C)
c.694+43G>C (n.694+43G>C)
c.827G>C (p.Trp276Ser)
c.256-1171G>C (n.256-1171G>C)
c.887G>C (p.Trp296Ser)
c.784+43G>C (n.784+43G>C)
c.554G>C (p.Trp185Ser)
n.935G>C
c.622+43G>C (n.622+43G>C)
c.832+43G>C (n.832+43G>C)
gnomAD v4
15g.74896368G>TCA393176232MPIc.844+43G>T (n.844+43G>T)
c.661+43G>T (n.661+43G>T)
c.694+43G>T (n.694+43G>T)
c.827G>T (p.Trp276Leu)
c.256-1171G>T (n.256-1171G>T)
c.887G>T (p.Trp296Leu)
c.784+43G>T (n.784+43G>T)
c.554G>T (p.Trp185Leu)
n.935G>T
c.622+43G>T (n.622+43G>T)
c.832+43G>T (n.832+43G>T)
15g.74896369G>ACA393176233MPIc.844+44G>A (n.844+44G>A)
c.661+44G>A (n.661+44G>A)
c.694+44G>A (n.694+44G>A)
c.828G>A (p.Trp276Ter)
c.256-1170G>A (n.256-1170G>A)
c.888G>A (p.Trp296Ter)
c.784+44G>A (n.784+44G>A)
c.555G>A (p.Trp185Ter)
n.936G>A
c.622+44G>A (n.622+44G>A)
c.832+44G>A (n.832+44G>A)
15g.74896369G>CCA393176234MPIc.844+44G>C (n.844+44G>C)
c.661+44G>C (n.661+44G>C)
c.694+44G>C (n.694+44G>C)
c.828G>C (p.Trp276Cys)
c.256-1170G>C (n.256-1170G>C)
c.888G>C (p.Trp296Cys)
c.784+44G>C (n.784+44G>C)
c.555G>C (p.Trp185Cys)
n.936G>C
c.622+44G>C (n.622+44G>C)
c.832+44G>C (n.832+44G>C)
15g.74896369G>TCA393176235MPIc.844+44G>T (n.844+44G>T)
c.661+44G>T (n.661+44G>T)
c.694+44G>T (n.694+44G>T)
c.828G>T (p.Trp276Cys)
c.256-1170G>T (n.256-1170G>T)
c.888G>T (p.Trp296Cys)
c.784+44G>T (n.784+44G>T)
c.555G>T (p.Trp185Cys)
n.936G>T
c.622+44G>T (n.622+44G>T)
c.832+44G>T (n.832+44G>T)
COSMIC COSMIC
15g.74896370G>ACA7662557MPIc.844+45G>A (n.844+45G>A)
c.661+45G>A (n.661+45G>A)
c.694+45G>A (n.694+45G>A)
c.829G>A (p.Ala277Thr)
c.256-1169G>A (n.256-1169G>A)
c.889G>A (p.Ala297Thr)
c.784+45G>A (n.784+45G>A)
c.556G>A (p.Ala186Thr)
n.937G>A
c.622+45G>A (n.622+45G>A)
c.832+45G>A (n.832+45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896370G>CCA393176237MPIc.844+45G>C (n.844+45G>C)
c.661+45G>C (n.661+45G>C)
c.694+45G>C (n.694+45G>C)
c.829G>C (p.Ala277Pro)
c.256-1169G>C (n.256-1169G>C)
c.889G>C (p.Ala297Pro)
c.784+45G>C (n.784+45G>C)
c.556G>C (p.Ala186Pro)
n.937G>C
c.622+45G>C (n.622+45G>C)
c.832+45G>C (n.832+45G>C)
15g.74896370G=CA2187902056MPIc.844+45G= (n.844+45G=)
c.661+45G= (n.661+45G=)
c.694+45G= (n.694+45G=)
c.829G= (p.Ala277=)
c.256-1169G= (n.256-1169G=)
c.889G= (p.Ala297=)
c.784+45G= (n.784+45G=)
c.556G= (p.Ala186=)
n.937G=
c.622+45G= (n.622+45G=)
c.832+45G= (n.832+45G=)
15g.74896370G>TCA393176236MPIc.844+45G>T (n.844+45G>T)
c.661+45G>T (n.661+45G>T)
c.694+45G>T (n.694+45G>T)
c.829G>T (p.Ala277Ser)
c.256-1169G>T (n.256-1169G>T)
c.889G>T (p.Ala297Ser)
c.784+45G>T (n.784+45G>T)
c.556G>T (p.Ala186Ser)
n.937G>T
c.622+45G>T (n.622+45G>T)
c.832+45G>T (n.832+45G>T)
15g.74896371C>ACA393176238MPIc.844+46C>A (n.844+46C>A)
c.661+46C>A (n.661+46C>A)
c.694+46C>A (n.694+46C>A)
c.830C>A (p.Ala277Asp)
c.256-1168C>A (n.256-1168C>A)
c.890C>A (p.Ala297Asp)
c.784+46C>A (n.784+46C>A)
c.557C>A (p.Ala186Asp)
n.938C>A
c.622+46C>A (n.622+46C>A)
c.832+46C>A (n.832+46C>A)
dbSNP gnomAD v4
15g.74896371C=CA2187902058MPIc.844+46C= (n.844+46C=)
c.661+46C= (n.661+46C=)
c.694+46C= (n.694+46C=)
c.830C= (p.Ala277=)
c.256-1168C= (n.256-1168C=)
c.890C= (p.Ala297=)
c.784+46C= (n.784+46C=)
c.557C= (p.Ala186=)
n.938C=
c.622+46C= (n.622+46C=)
c.832+46C= (n.832+46C=)
15g.74896371C>GCA393176239MPIc.844+46C>G (n.844+46C>G)
c.661+46C>G (n.661+46C>G)
c.694+46C>G (n.694+46C>G)
c.830C>G (p.Ala277Gly)
c.256-1168C>G (n.256-1168C>G)
c.890C>G (p.Ala297Gly)
c.784+46C>G (n.784+46C>G)
c.557C>G (p.Ala186Gly)
n.938C>G
c.622+46C>G (n.622+46C>G)
c.832+46C>G (n.832+46C>G)
15g.74896371C>TCA393176240MPIc.844+46C>T (n.844+46C>T)
c.661+46C>T (n.661+46C>T)
c.694+46C>T (n.694+46C>T)
c.830C>T (p.Ala277Val)
c.256-1168C>T (n.256-1168C>T)
c.890C>T (p.Ala297Val)
c.784+46C>T (n.784+46C>T)
c.557C>T (p.Ala186Val)
n.938C>T
c.622+46C>T (n.622+46C>T)
c.832+46C>T (n.832+46C>T)
15g.74896372C=CA2187902061MPIc.844+47C= (n.844+47C=)
c.661+47C= (n.661+47C=)
c.694+47C= (n.694+47C=)
c.831C= (p.Ala277=)
c.256-1167C= (n.256-1167C=)
c.891C= (p.Ala297=)
c.784+47C= (n.784+47C=)
c.558C= (p.Ala186=)
n.939C=
c.622+47C= (n.622+47C=)
c.832+47C= (n.832+47C=)
15g.74896372C>GCA971521415MPIc.844+47C>G (n.844+47C>G)
c.661+47C>G (n.661+47C>G)
c.694+47C>G (n.694+47C>G)
c.831C>G (p.Ala277=)
c.256-1167C>G (n.256-1167C>G)
c.891C>G (p.Ala297=)
c.784+47C>G (n.784+47C>G)
c.558C>G (p.Ala186=)
n.939C>G
c.622+47C>G (n.622+47C>G)
c.832+47C>G (n.832+47C>G)
dbSNP
15g.74896372C>TCA272825566MPIc.844+47C>T (n.844+47C>T)
c.661+47C>T (n.661+47C>T)
c.694+47C>T (n.694+47C>T)
c.831C>T (p.Ala277=)
c.256-1167C>T (n.256-1167C>T)
c.891C>T (p.Ala297=)
c.784+47C>T (n.784+47C>T)
c.558C>T (p.Ala186=)
n.939C>T
c.622+47C>T (n.622+47C>T)
c.832+47C>T (n.832+47C>T)
dbSNP gnomAD v3 gnomAD v4
15g.74896372_74896374delinsCCTCA2187902060MPIc.844+47_844+49delinsCCT (n.844+47_844+49delinsCCT)
c.661+47_661+49delinsCCT (n.661+47_661+49delinsCCT)
c.694+47_694+49delinsCCT (n.694+47_694+49delinsCCT)
c.831_833delinsCCT (p.Ala277=)
c.256-1167_256-1165delinsCCT (n.256-1167_256-1165delinsCCT)
c.891_893delinsCCT (p.Ala297=)
c.784+47_784+49delinsCCT (n.784+47_784+49delinsCCT)
c.558_560delinsCCT (p.Ala186=)
n.939_941delinsCCT
c.622+47_622+49delinsCCT (n.622+47_622+49delinsCCT)
c.832+47_832+49delinsCCT (n.832+47_832+49delinsCCT)
15g.74896373C>ACA393176241MPIc.844+48C>A (n.844+48C>A)
c.661+48C>A (n.661+48C>A)
c.694+48C>A (n.694+48C>A)
c.832C>A (p.Leu278Met)
c.256-1166C>A (n.256-1166C>A)
c.892C>A (p.Leu298Met)
c.784+48C>A (n.784+48C>A)
c.559C>A (p.Leu187Met)
n.940C>A
c.622+48C>A (n.622+48C>A)
c.832+48C>A (n.832+48C>A)
gnomAD v4
15g.74896373C=CA2187902063MPIc.844+48C= (n.844+48C=)
c.661+48C= (n.661+48C=)
c.694+48C= (n.694+48C=)
c.832C= (p.Leu278=)
c.256-1166C= (n.256-1166C=)
c.892C= (p.Leu298=)
c.784+48C= (n.784+48C=)
c.559C= (p.Leu187=)
n.940C=
c.622+48C= (n.622+48C=)
c.832+48C= (n.832+48C=)
15g.74896373C>GCA393176242MPIc.844+48C>G (n.844+48C>G)
c.661+48C>G (n.661+48C>G)
c.694+48C>G (n.694+48C>G)
c.832C>G (p.Leu278Val)
c.256-1166C>G (n.256-1166C>G)
c.892C>G (p.Leu298Val)
c.784+48C>G (n.784+48C>G)
c.559C>G (p.Leu187Val)
n.940C>G
c.622+48C>G (n.622+48C>G)
c.832+48C>G (n.832+48C>G)
dbSNP gnomAD v2 gnomAD v4
15g.74896373_74896374delCA7662558MPIc.844+48_844+49del (n.844+48_844+49del)
c.661+48_661+49del (n.661+48_661+49del)
c.694+48_694+49del (n.694+48_694+49del)
c.832_833del (p.Leu278ValfsTer25)
c.256-1166_256-1165del (n.256-1166_256-1165del)
c.892_893del (p.Leu298ValfsTer25)
c.784+48_784+49del (n.784+48_784+49del)
c.559_560del (p.Leu187ValfsTer25)
n.940_941del
c.622+48_622+49del (n.622+48_622+49del)
c.832+48_832+49del (n.832+48_832+49del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896374T>ACA393176243MPIc.844+49T>A (n.844+49T>A)
c.661+49T>A (n.661+49T>A)
c.694+49T>A (n.694+49T>A)
c.833T>A (p.Leu278Gln)
c.256-1165T>A (n.256-1165T>A)
c.893T>A (p.Leu298Gln)
c.784+49T>A (n.784+49T>A)
c.560T>A (p.Leu187Gln)
n.941T>A
c.622+49T>A (n.622+49T>A)
c.832+49T>A (n.832+49T>A)
15g.74896374T>CCA393176244MPIc.844+49T>C (n.844+49T>C)
c.661+49T>C (n.661+49T>C)
c.694+49T>C (n.694+49T>C)
c.833T>C (p.Leu278Pro)
c.256-1165T>C (n.256-1165T>C)
c.893T>C (p.Leu298Pro)
c.784+49T>C (n.784+49T>C)
c.560T>C (p.Leu187Pro)
n.941T>C
c.622+49T>C (n.622+49T>C)
c.832+49T>C (n.832+49T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896374T>GCA393176245MPIc.844+49T>G (n.844+49T>G)
c.661+49T>G (n.661+49T>G)
c.694+49T>G (n.694+49T>G)
c.833T>G (p.Leu278Arg)
c.256-1165T>G (n.256-1165T>G)
c.893T>G (p.Leu298Arg)
c.784+49T>G (n.784+49T>G)
c.560T>G (p.Leu187Arg)
n.941T>G
c.622+49T>G (n.622+49T>G)
c.832+49T>G (n.832+49T>G)
gnomAD v4
15g.74896374T=CA2187902065MPIc.844+49T= (n.844+49T=)
c.661+49T= (n.661+49T=)
c.694+49T= (n.694+49T=)
c.833T= (p.Leu278=)
c.256-1165T= (n.256-1165T=)
c.893T= (p.Leu298=)
c.784+49T= (n.784+49T=)
c.560T= (p.Leu187=)
n.941T=
c.622+49T= (n.622+49T=)
c.832+49T= (n.832+49T=)
15g.74896375G>ACA2575791707MPIc.844+50G>A (n.844+50G>A)
c.661+50G>A (n.661+50G>A)
c.694+50G>A (n.694+50G>A)
c.834G>A (p.Leu278=)
c.256-1164G>A (n.256-1164G>A)
c.894G>A (p.Leu298=)
c.784+50G>A (n.784+50G>A)
c.561G>A (p.Leu187=)
n.942G>A
c.622+50G>A (n.622+50G>A)
c.832+50G>A (n.832+50G>A)
gnomAD v4
15g.74896376T>ACA393176246MPIc.844+51T>A (n.844+51T>A)
c.661+51T>A (n.661+51T>A)
c.694+51T>A (n.694+51T>A)
c.835T>A (p.Phe279Ile)
c.256-1163T>A (n.256-1163T>A)
c.895T>A (p.Phe299Ile)
c.784+51T>A (n.784+51T>A)
c.562T>A (p.Phe188Ile)
n.943T>A
c.622+51T>A (n.622+51T>A)
c.832+51T>A (n.832+51T>A)
15g.74896376T>CCA393176247MPIc.844+51T>C (n.844+51T>C)
c.661+51T>C (n.661+51T>C)
c.694+51T>C (n.694+51T>C)
c.835T>C (p.Phe279Leu)
c.256-1163T>C (n.256-1163T>C)
c.895T>C (p.Phe299Leu)
c.784+51T>C (n.784+51T>C)
c.562T>C (p.Phe188Leu)
n.943T>C
c.622+51T>C (n.622+51T>C)
c.832+51T>C (n.832+51T>C)
15g.74896376T>GCA393176248MPIc.844+51T>G (n.844+51T>G)
c.661+51T>G (n.661+51T>G)
c.694+51T>G (n.694+51T>G)
c.835T>G (p.Phe279Val)
c.256-1163T>G (n.256-1163T>G)
c.895T>G (p.Phe299Val)
c.784+51T>G (n.784+51T>G)
c.562T>G (p.Phe188Val)
n.943T>G
c.622+51T>G (n.622+51T>G)
c.832+51T>G (n.832+51T>G)
15g.74896377T>ACA393176250MPIc.844+52T>A (n.844+52T>A)
c.661+52T>A (n.661+52T>A)
c.694+52T>A (n.694+52T>A)
c.836T>A (p.Phe279Tyr)
c.256-1162T>A (n.256-1162T>A)
c.896T>A (p.Phe299Tyr)
c.784+52T>A (n.784+52T>A)
c.563T>A (p.Phe188Tyr)
n.944T>A
c.622+52T>A (n.622+52T>A)
c.832+52T>A (n.832+52T>A)
15g.74896377T>CCA393176251MPIc.844+52T>C (n.844+52T>C)
c.661+52T>C (n.661+52T>C)
c.694+52T>C (n.694+52T>C)
c.836T>C (p.Phe279Ser)
c.256-1162T>C (n.256-1162T>C)
c.896T>C (p.Phe299Ser)
c.784+52T>C (n.784+52T>C)
c.563T>C (p.Phe188Ser)
n.944T>C
c.622+52T>C (n.622+52T>C)
c.832+52T>C (n.832+52T>C)
15g.74896377T>GCA393176249MPIc.844+52T>G (n.844+52T>G)
c.661+52T>G (n.661+52T>G)
c.694+52T>G (n.694+52T>G)
c.836T>G (p.Phe279Cys)
c.256-1162T>G (n.256-1162T>G)
c.896T>G (p.Phe299Cys)
c.784+52T>G (n.784+52T>G)
c.563T>G (p.Phe188Cys)
n.944T>G
c.622+52T>G (n.622+52T>G)
c.832+52T>G (n.832+52T>G)
15g.74896378T>ACA393176252MPIc.844+53T>A (n.844+53T>A)
c.661+53T>A (n.661+53T>A)
c.694+53T>A (n.694+53T>A)
c.837T>A (p.Phe279Leu)
c.256-1161T>A (n.256-1161T>A)
c.897T>A (p.Phe299Leu)
c.784+53T>A (n.784+53T>A)
c.564T>A (p.Phe188Leu)
n.945T>A
c.622+53T>A (n.622+53T>A)
c.832+53T>A (n.832+53T>A)
15g.74896378T>GCA393176253MPIc.844+53T>G (n.844+53T>G)
c.661+53T>G (n.661+53T>G)
c.694+53T>G (n.694+53T>G)
c.837T>G (p.Phe279Leu)
c.256-1161T>G (n.256-1161T>G)
c.897T>G (p.Phe299Leu)
c.784+53T>G (n.784+53T>G)
c.564T>G (p.Phe188Leu)
n.945T>G
c.622+53T>G (n.622+53T>G)
c.832+53T>G (n.832+53T>G)
15g.74896379C>ACA393176254MPIc.844+54C>A (n.844+54C>A)
c.661+54C>A (n.661+54C>A)
c.694+54C>A (n.694+54C>A)
c.838C>A (p.Pro280Thr)
c.256-1160C>A (n.256-1160C>A)
c.898C>A (p.Pro300Thr)
c.784+54C>A (n.784+54C>A)
c.565C>A (p.Pro189Thr)
n.946C>A
c.622+54C>A (n.622+54C>A)
c.832+54C>A (n.832+54C>A)
15g.74896379C>GCA393176256MPIc.844+54C>G (n.844+54C>G)
c.661+54C>G (n.661+54C>G)
c.694+54C>G (n.694+54C>G)
c.838C>G (p.Pro280Ala)
c.256-1160C>G (n.256-1160C>G)
c.898C>G (p.Pro300Ala)
c.784+54C>G (n.784+54C>G)
c.565C>G (p.Pro189Ala)
n.946C>G
c.622+54C>G (n.622+54C>G)
c.832+54C>G (n.832+54C>G)
15g.74896379C>TCA393176255MPIc.844+54C>T (n.844+54C>T)
c.661+54C>T (n.661+54C>T)
c.694+54C>T (n.694+54C>T)
c.838C>T (p.Pro280Ser)
c.256-1160C>T (n.256-1160C>T)
c.898C>T (p.Pro300Ser)
c.784+54C>T (n.784+54C>T)
c.565C>T (p.Pro189Ser)
n.946C>T
c.622+54C>T (n.622+54C>T)
c.832+54C>T (n.832+54C>T)
gnomAD v4
15g.74896381dupCA2629530813MPIc.844+56dup (n.844+56dup)
c.661+56dup (n.661+56dup)
c.694+56dup (n.694+56dup)
c.840dup (p.Tyr281LeufsTer23)
c.256-1158dup (n.256-1158dup)
c.900dup (p.Tyr301LeufsTer23)
c.784+56dup (n.784+56dup)
c.567dup (p.Tyr190LeufsTer23)
n.948dup
c.622+56dup (n.622+56dup)
c.832+56dup (n.832+56dup)
gnomAD v4

Number of alleles fetched