Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72108831_72108837delinsGCCGCTACA1981841112ANAPC15,LRRC51,LRTOMT,TOMTc.683_689delinsGCCGCTA (p.Gly228=)
c.*193_*199delinsGCCGCTA (n.*193_*199delinsGCCGCTA)
c.782_788delinsGCCGCTA (p.Gly261=)
c.*501_*507delinsGCCGCTA (n.*501_*507delinsGCCGCTA)
c.64-1232_64-1226delinsTAGCGGC (n.64-1232_64-1226delinsTAGCGGC)
c.*137_*143delinsTAGCGGC (n.*137_*143delinsTAGCGGC)
c.319-1232_319-1226delinsTAGCGGC (n.319-1232_319-1226delinsTAGCGGC)
c.662_668delinsGCCGCTA (p.Gly221=)
c.1007_1013delinsGCCGCTA (p.Gly336=)
c.357_363delinsTAGCGGC (p.Gly119=)
n.606_612delinsTAGCGGC
11g.72108837_72108842delCA939424730ANAPC15,LRRC51,LRTOMT,TOMTc.689_694del (p.Tyr230_Arg231del)
c.*199_*204del (n.*199_*204del)
c.788_793del (p.Tyr263_Arg264del)
c.*507_*512del (n.*507_*512del)
c.64-1232_64-1227del (n.64-1232_64-1227del)
c.*137_*142del (n.*137_*142del)
c.319-1232_319-1227del (n.319-1232_319-1227del)
c.668_673del (p.Tyr223_Arg224del)
c.1013_1018del (p.Tyr338_Arg339del)
c.357_362del (p.Ser120_Gly121del)
n.606_611del
 dbSNP gnomAD v3 gnomAD v4
11g.72108833C>ACA381727082ANAPC15,LRRC51,LRTOMT,TOMTc.685C>A (p.Arg229Ser)
c.*195C>A (n.*195C>A)
c.784C>A (p.Arg262Ser)
c.*503C>A (n.*503C>A)
c.64-1228G>T (n.64-1228G>T)
c.*141G>T (n.*141G>T)
c.319-1228G>T (n.319-1228G>T)
c.664C>A (p.Arg222Ser)
c.1009C>A (p.Arg337Ser)
c.361G>T (p.Gly121Cys)
n.610G>T
11g.72108833C=CA1981841114ANAPC15,LRRC51,LRTOMT,TOMTc.685C= (p.Arg229=)
c.*195C= (n.*195C=)
c.784C= (p.Arg262=)
c.*503C= (n.*503C=)
c.64-1228G= (n.64-1228G=)
c.*141G= (n.*141G=)
c.319-1228G= (n.319-1228G=)
c.664C= (p.Arg222=)
c.1009C= (p.Arg337=)
c.361G= (p.Gly121=)
n.610G=
11g.72108833C>GCA381727085ANAPC15,LRRC51,LRTOMT,TOMTc.685C>G (p.Arg229Gly)
c.*195C>G (n.*195C>G)
c.784C>G (p.Arg262Gly)
c.*503C>G (n.*503C>G)
c.64-1228G>C (n.64-1228G>C)
c.*141G>C (n.*141G>C)
c.319-1228G>C (n.319-1228G>C)
c.664C>G (p.Arg222Gly)
c.1009C>G (p.Arg337Gly)
c.361G>C (p.Gly121Arg)
n.610G>C
11g.72108833C>TCA10640069ANAPC15,LRRC51,LRTOMT,TOMTc.685C>T (p.Arg229Cys)
c.*195C>T (n.*195C>T)
c.784C>T (p.Arg262Cys)
c.*503C>T (n.*503C>T)
c.64-1228G>A (n.64-1228G>A)
c.*141G>A (n.*141G>A)
c.319-1228G>A (n.319-1228G>A)
c.664C>T (p.Arg222Cys)
c.1009C>T (p.Arg337Cys)
c.361G>A (p.Gly121Ser)
n.610G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108834G>ACA224375652ANAPC15,LRRC51,LRTOMT,TOMTc.686G>A (p.Arg229His)
c.*196G>A (n.*196G>A)
c.785G>A (p.Arg262His)
c.*504G>A (n.*504G>A)
c.64-1229C>T (n.64-1229C>T)
c.*140C>T (n.*140C>T)
c.319-1229C>T (n.319-1229C>T)
c.665G>A (p.Arg222His)
c.1010G>A (p.Arg337His)
c.360C>T (p.Ser120=)
n.609C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108834G>CCA381727091ANAPC15,LRRC51,LRTOMT,TOMTc.686G>C (p.Arg229Pro)
c.*196G>C (n.*196G>C)
c.785G>C (p.Arg262Pro)
c.*504G>C (n.*504G>C)
c.64-1229C>G (n.64-1229C>G)
c.*140C>G (n.*140C>G)
c.319-1229C>G (n.319-1229C>G)
c.665G>C (p.Arg222Pro)
c.1010G>C (p.Arg337Pro)
c.360C>G (p.Ser120Arg)
n.609C>G
11g.72108834G=CA1981841115ANAPC15,LRRC51,LRTOMT,TOMTc.686G= (p.Arg229=)
c.*196G= (n.*196G=)
c.785G= (p.Arg262=)
c.*504G= (n.*504G=)
c.64-1229C= (n.64-1229C=)
c.*140C= (n.*140C=)
c.319-1229C= (n.319-1229C=)
c.665G= (p.Arg222=)
c.1010G= (p.Arg337=)
c.360C= (p.Ser120=)
n.609C=
11g.72108834G>TCA381727094ANAPC15,LRRC51,LRTOMT,TOMTc.686G>T (p.Arg229Leu)
c.*196G>T (n.*196G>T)
c.785G>T (p.Arg262Leu)
c.*504G>T (n.*504G>T)
c.64-1229C>A (n.64-1229C>A)
c.*140C>A (n.*140C>A)
c.319-1229C>A (n.319-1229C>A)
c.665G>T (p.Arg222Leu)
c.1010G>T (p.Arg337Leu)
c.360C>A (p.Ser120Arg)
n.609C>A
11g.72108835C>ACA475592700ANAPC15,LRRC51,LRTOMT,TOMTc.687C>A (p.Arg229=)
c.*197C>A (n.*197C>A)
c.786C>A (p.Arg262=)
c.*505C>A (n.*505C>A)
c.64-1230G>T (n.64-1230G>T)
c.*139G>T (n.*139G>T)
c.319-1230G>T (n.319-1230G>T)
c.666C>A (p.Arg222=)
c.1011C>A (p.Arg337=)
c.359G>T (p.Ser120Ile)
n.608G>T
11g.72108835C>GCA475592703ANAPC15,LRRC51,LRTOMT,TOMTc.687C>G (p.Arg229=)
c.*197C>G (n.*197C>G)
c.786C>G (p.Arg262=)
c.*505C>G (n.*505C>G)
c.64-1230G>C (n.64-1230G>C)
c.*139G>C (n.*139G>C)
c.319-1230G>C (n.319-1230G>C)
c.666C>G (p.Arg222=)
c.1011C>G (p.Arg337=)
c.359G>C (p.Ser120Thr)
n.608G>C
11g.72108835C>TCA475592701ANAPC15,LRRC51,LRTOMT,TOMTc.687C>T (p.Arg229=)
c.*197C>T (n.*197C>T)
c.786C>T (p.Arg262=)
c.*505C>T (n.*505C>T)
c.64-1230G>A (n.64-1230G>A)
c.*139G>A (n.*139G>A)
c.319-1230G>A (n.319-1230G>A)
c.666C>T (p.Arg222=)
c.1011C>T (p.Arg337=)
c.359G>A (p.Ser120Asn)
n.608G>A
11g.72108836T>ACA381727096ANAPC15,LRRC51,LRTOMT,TOMTc.688T>A (p.Tyr230Asn)
c.*198T>A (n.*198T>A)
c.787T>A (p.Tyr263Asn)
c.*506T>A (n.*506T>A)
c.64-1231A>T (n.64-1231A>T)
c.*138A>T (n.*138A>T)
c.319-1231A>T (n.319-1231A>T)
c.667T>A (p.Tyr223Asn)
c.1012T>A (p.Tyr338Asn)
c.358A>T (p.Ser120Cys)
n.607A>T
11g.72108836T>CCA224375656ANAPC15,LRRC51,LRTOMT,TOMTc.688T>C (p.Tyr230His)
c.*198T>C (n.*198T>C)
c.787T>C (p.Tyr263His)
c.*506T>C (n.*506T>C)
c.64-1231A>G (n.64-1231A>G)
c.*138A>G (n.*138A>G)
c.319-1231A>G (n.319-1231A>G)
c.667T>C (p.Tyr223His)
c.1012T>C (p.Tyr338His)
c.358A>G (p.Ser120Gly)
n.607A>G
 dbSNP gnomAD v3 gnomAD v4
11g.72108836T>GCA381727099ANAPC15,LRRC51,LRTOMT,TOMTc.688T>G (p.Tyr230Asp)
c.*198T>G (n.*198T>G)
c.787T>G (p.Tyr263Asp)
c.*506T>G (n.*506T>G)
c.64-1231A>C (n.64-1231A>C)
c.*138A>C (n.*138A>C)
c.319-1231A>C (n.319-1231A>C)
c.667T>G (p.Tyr223Asp)
c.1012T>G (p.Tyr338Asp)
c.358A>C (p.Ser120Arg)
n.607A>C
11g.72108836T=CA1981841116ANAPC15,LRRC51,LRTOMT,TOMTc.688T= (p.Tyr230=)
c.*198T= (n.*198T=)
c.787T= (p.Tyr263=)
c.*506T= (n.*506T=)
c.64-1231A= (n.64-1231A=)
c.*138A= (n.*138A=)
c.319-1231A= (n.319-1231A=)
c.667T= (p.Tyr223=)
c.1012T= (p.Tyr338=)
c.358A= (p.Ser120=)
n.607A=
11g.72108837A>CCA381727103ANAPC15,LRRC51,LRTOMT,TOMTc.689A>C (p.Tyr230Ser)
c.*199A>C (n.*199A>C)
c.788A>C (p.Tyr263Ser)
c.*507A>C (n.*507A>C)
c.64-1232T>G (n.64-1232T>G)
c.*137T>G (n.*137T>G)
c.319-1232T>G (n.319-1232T>G)
c.668A>C (p.Tyr223Ser)
c.1013A>C (p.Tyr338Ser)
c.357T>G (p.Gly119=)
n.606T>G
11g.72108837A>GCA381727106ANAPC15,LRRC51,LRTOMT,TOMTc.689A>G (p.Tyr230Cys)
c.*199A>G (n.*199A>G)
c.788A>G (p.Tyr263Cys)
c.*507A>G (n.*507A>G)
c.64-1232T>C (n.64-1232T>C)
c.*137T>C (n.*137T>C)
c.319-1232T>C (n.319-1232T>C)
c.668A>G (p.Tyr223Cys)
c.1013A>G (p.Tyr338Cys)
c.357T>C (p.Gly119=)
n.606T>C
 COSMIC
11g.72108837A>TCA381727110ANAPC15,LRRC51,LRTOMT,TOMTc.689A>T (p.Tyr230Phe)
c.*199A>T (n.*199A>T)
c.788A>T (p.Tyr263Phe)
c.*507A>T (n.*507A>T)
c.64-1232T>A (n.64-1232T>A)
c.*137T>A (n.*137T>A)
c.319-1232T>A (n.319-1232T>A)
c.668A>T (p.Tyr223Phe)
c.1013A>T (p.Tyr338Phe)
c.357T>A (p.Gly119=)
n.606T>A
11g.72108838C>ACA381727112ANAPC15,LRRC51,LRTOMT,TOMTc.690C>A (p.Tyr230Ter)
c.*200C>A (n.*200C>A)
c.789C>A (p.Tyr263Ter)
c.*508C>A (n.*508C>A)
c.64-1233G>T (n.64-1233G>T)
c.*136G>T (n.*136G>T)
c.319-1233G>T (n.319-1233G>T)
c.669C>A (p.Tyr223Ter)
c.1014C>A (p.Tyr338Ter)
c.356G>T (p.Gly119Val)
n.605G>T
11g.72108838C=CA1981841117ANAPC15,LRRC51,LRTOMT,TOMTc.690C= (p.Tyr230=)
c.*200C= (n.*200C=)
c.789C= (p.Tyr263=)
c.*508C= (n.*508C=)
c.64-1233G= (n.64-1233G=)
c.*136G= (n.*136G=)
c.319-1233G= (n.319-1233G=)
c.669C= (p.Tyr223=)
c.1014C= (p.Tyr338=)
c.356G= (p.Gly119=)
n.605G=
11g.72108838C>GCA381727114ANAPC15,LRRC51,LRTOMT,TOMTc.690C>G (p.Tyr230Ter)
c.*200C>G (n.*200C>G)
c.789C>G (p.Tyr263Ter)
c.*508C>G (n.*508C>G)
c.64-1233G>C (n.64-1233G>C)
c.*136G>C (n.*136G>C)
c.319-1233G>C (n.319-1233G>C)
c.669C>G (p.Tyr223Ter)
c.1014C>G (p.Tyr338Ter)
c.356G>C (p.Gly119Ala)
n.605G>C
11g.72108838C>TCA475592712ANAPC15,LRRC51,LRTOMT,TOMTc.690C>T (p.Tyr230=)
c.*200C>T (n.*200C>T)
c.789C>T (p.Tyr263=)
c.*508C>T (n.*508C>T)
c.64-1233G>A (n.64-1233G>A)
c.*136G>A (n.*136G>A)
c.319-1233G>A (n.319-1233G>A)
c.669C>T (p.Tyr223=)
c.1014C>T (p.Tyr338=)
c.356G>A (p.Gly119Asp)
n.605G>A
 dbSNP
11g.72108838_72108839delCA2614921771ANAPC15,LRRC51,LRTOMT,TOMTc.690_691del (p.Tyr230Ter)
c.*200_*201del (n.*200_*201del)
c.789_790del (p.Tyr263Ter)
c.*508_*509del (n.*508_*509del)
c.64-1234_64-1233del (n.64-1234_64-1233del)
c.*135_*136del (n.*135_*136del)
c.319-1234_319-1233del (n.319-1234_319-1233del)
c.669_670del (p.Tyr223Ter)
c.1014_1015del (p.Tyr338Ter)
c.355_356del (p.Gly119Ter)
n.604_605del
 gnomAD v4
11g.72108839C>ACA381727117ANAPC15,LRRC51,LRTOMT,TOMTc.691C>A (p.Arg231Ser)
c.*201C>A (n.*201C>A)
c.790C>A (p.Arg264Ser)
c.*509C>A (n.*509C>A)
c.64-1234G>T (n.64-1234G>T)
c.*135G>T (n.*135G>T)
c.319-1234G>T (n.319-1234G>T)
c.670C>A (p.Arg224Ser)
c.1015C>A (p.Arg339Ser)
c.355G>T (p.Gly119Cys)
n.604G>T
11g.72108839C=CA1981841118ANAPC15,LRRC51,LRTOMT,TOMTc.691C= (p.Arg231=)
c.*201C= (n.*201C=)
c.790C= (p.Arg264=)
c.*509C= (n.*509C=)
c.64-1234G= (n.64-1234G=)
c.*135G= (n.*135G=)
c.319-1234G= (n.319-1234G=)
c.670C= (p.Arg224=)
c.1015C= (p.Arg339=)
c.355G= (p.Gly119=)
n.604G=
11g.72108839C>GCA381727119ANAPC15,LRRC51,LRTOMT,TOMTc.691C>G (p.Arg231Gly)
c.*201C>G (n.*201C>G)
c.790C>G (p.Arg264Gly)
c.*509C>G (n.*509C>G)
c.64-1234G>C (n.64-1234G>C)
c.*135G>C (n.*135G>C)
c.319-1234G>C (n.319-1234G>C)
c.670C>G (p.Arg224Gly)
c.1015C>G (p.Arg339Gly)
c.355G>C (p.Gly119Arg)
n.604G>C
11g.72108839C>TCA224375659ANAPC15,LRRC51,LRTOMT,TOMTc.691C>T (p.Arg231Cys)
c.*201C>T (n.*201C>T)
c.790C>T (p.Arg264Cys)
c.*509C>T (n.*509C>T)
c.64-1234G>A (n.64-1234G>A)
c.*135G>A (n.*135G>A)
c.319-1234G>A (n.319-1234G>A)
c.670C>T (p.Arg224Cys)
c.1015C>T (p.Arg339Cys)
c.355G>A (p.Gly119Ser)
n.604G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.72108840G>ACA224375668ANAPC15,LRRC51,LRTOMT,TOMTc.692G>A (p.Arg231His)
c.*202G>A (n.*202G>A)
c.791G>A (p.Arg264His)
c.*510G>A (n.*510G>A)
c.64-1235C>T (n.64-1235C>T)
c.*134C>T (n.*134C>T)
c.319-1235C>T (n.319-1235C>T)
c.671G>A (p.Arg224His)
c.1016G>A (p.Arg339His)
c.354C>T (p.Ser118=)
n.603C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72108840G>CCA381727127ANAPC15,LRRC51,LRTOMT,TOMTc.692G>C (p.Arg231Pro)
c.*202G>C (n.*202G>C)
c.791G>C (p.Arg264Pro)
c.*510G>C (n.*510G>C)
c.64-1235C>G (n.64-1235C>G)
c.*134C>G (n.*134C>G)
c.319-1235C>G (n.319-1235C>G)
c.671G>C (p.Arg224Pro)
c.1016G>C (p.Arg339Pro)
c.354C>G (p.Ser118Arg)
n.603C>G
 gnomAD v4
11g.72108840G=CA1981841119ANAPC15,LRRC51,LRTOMT,TOMTc.692G= (p.Arg231=)
c.*202G= (n.*202G=)
c.791G= (p.Arg264=)
c.*510G= (n.*510G=)
c.64-1235C= (n.64-1235C=)
c.*134C= (n.*134C=)
c.319-1235C= (n.319-1235C=)
c.671G= (p.Arg224=)
c.1016G= (p.Arg339=)
c.354C= (p.Ser118=)
n.603C=
11g.72108840G>TCA381727130ANAPC15,LRRC51,LRTOMT,TOMTc.692G>T (p.Arg231Leu)
c.*202G>T (n.*202G>T)
c.791G>T (p.Arg264Leu)
c.*510G>T (n.*510G>T)
c.64-1235C>A (n.64-1235C>A)
c.*134C>A (n.*134C>A)
c.319-1235C>A (n.319-1235C>A)
c.671G>T (p.Arg224Leu)
c.1016G>T (p.Arg339Leu)
c.354C>A (p.Ser118Arg)
n.603C>A
 gnomAD v4 COSMIC
11g.72108841C>ACA475592721ANAPC15,LRRC51,LRTOMT,TOMTc.693C>A (p.Arg231=)
c.*203C>A (n.*203C>A)
c.792C>A (p.Arg264=)
c.*511C>A (n.*511C>A)
c.64-1236G>T (n.64-1236G>T)
c.*133G>T (n.*133G>T)
c.319-1236G>T (n.319-1236G>T)
c.672C>A (p.Arg224=)
c.1017C>A (p.Arg339=)
c.353G>T (p.Ser118Ile)
n.602G>T
11g.72108841C>GCA475592722ANAPC15,LRRC51,LRTOMT,TOMTc.693C>G (p.Arg231=)
c.*203C>G (n.*203C>G)
c.792C>G (p.Arg264=)
c.*511C>G (n.*511C>G)
c.64-1236G>C (n.64-1236G>C)
c.*133G>C (n.*133G>C)
c.319-1236G>C (n.319-1236G>C)
c.672C>G (p.Arg224=)
c.1017C>G (p.Arg339=)
c.353G>C (p.Ser118Thr)
n.602G>C
11g.72108841C>TCA475592725ANAPC15,LRRC51,LRTOMT,TOMTc.693C>T (p.Arg231=)
c.*203C>T (n.*203C>T)
c.792C>T (p.Arg264=)
c.*511C>T (n.*511C>T)
c.64-1236G>A (n.64-1236G>A)
c.*133G>A (n.*133G>A)
c.319-1236G>A (n.319-1236G>A)
c.672C>T (p.Arg224=)
c.1017C>T (p.Arg339=)
c.353G>A (p.Ser118Asn)
n.602G>A
11g.72108842T>ACA381727134ANAPC15,LRRC51,LRTOMT,TOMTc.694T>A (p.Cys232Ser)
c.*204T>A (n.*204T>A)
c.793T>A (p.Cys265Ser)
c.*512T>A (n.*512T>A)
c.64-1237A>T (n.64-1237A>T)
c.*132A>T (n.*132A>T)
c.319-1237A>T (n.319-1237A>T)
c.673T>A (p.Cys225Ser)
c.1018T>A (p.Cys340Ser)
c.352A>T (p.Ser118Cys)
n.601A>T
11g.72108842T>CCA381727139ANAPC15,LRRC51,LRTOMT,TOMTc.694T>C (p.Cys232Arg)
c.*204T>C (n.*204T>C)
c.793T>C (p.Cys265Arg)
c.*512T>C (n.*512T>C)
c.64-1237A>G (n.64-1237A>G)
c.*132A>G (n.*132A>G)
c.319-1237A>G (n.319-1237A>G)
c.673T>C (p.Cys225Arg)
c.1018T>C (p.Cys340Arg)
c.352A>G (p.Ser118Gly)
n.601A>G
11g.72108842T>GCA381727137ANAPC15,LRRC51,LRTOMT,TOMTc.694T>G (p.Cys232Gly)
c.*204T>G (n.*204T>G)
c.793T>G (p.Cys265Gly)
c.*512T>G (n.*512T>G)
c.64-1237A>C (n.64-1237A>C)
c.*132A>C (n.*132A>C)
c.319-1237A>C (n.319-1237A>C)
c.673T>G (p.Cys225Gly)
c.1018T>G (p.Cys340Gly)
c.352A>C (p.Ser118Arg)
n.601A>C
 gnomAD v4
11g.72108843G>ACA381727144ANAPC15,LRRC51,LRTOMT,TOMTc.695G>A (p.Cys232Tyr)
c.*205G>A (n.*205G>A)
c.794G>A (p.Cys265Tyr)
c.*513G>A (n.*513G>A)
c.64-1238C>T (n.64-1238C>T)
c.*131C>T (n.*131C>T)
c.319-1238C>T (n.319-1238C>T)
c.674G>A (p.Cys225Tyr)
c.1019G>A (p.Cys340Tyr)
c.351C>T (p.Gly117=)
n.600C>T
 dbSNP gnomAD v2 gnomAD v4
11g.72108843G>CCA381727147ANAPC15,LRRC51,LRTOMT,TOMTc.695G>C (p.Cys232Ser)
c.*205G>C (n.*205G>C)
c.794G>C (p.Cys265Ser)
c.*513G>C (n.*513G>C)
c.64-1238C>G (n.64-1238C>G)
c.*131C>G (n.*131C>G)
c.319-1238C>G (n.319-1238C>G)
c.674G>C (p.Cys225Ser)
c.1019G>C (p.Cys340Ser)
c.351C>G (p.Gly117=)
n.600C>G
11g.72108843G=CA1981841120ANAPC15,LRRC51,LRTOMT,TOMTc.695G= (p.Cys232=)
c.*205G= (n.*205G=)
c.794G= (p.Cys265=)
c.*513G= (n.*513G=)
c.64-1238C= (n.64-1238C=)
c.*131C= (n.*131C=)
c.319-1238C= (n.319-1238C=)
c.674G= (p.Cys225=)
c.1019G= (p.Cys340=)
c.351C= (p.Gly117=)
n.600C=
11g.72108843G>TCA381727146ANAPC15,LRRC51,LRTOMT,TOMTc.695G>T (p.Cys232Phe)
c.*205G>T (n.*205G>T)
c.794G>T (p.Cys265Phe)
c.*513G>T (n.*513G>T)
c.64-1238C>A (n.64-1238C>A)
c.*131C>A (n.*131C>A)
c.319-1238C>A (n.319-1238C>A)
c.674G>T (p.Cys225Phe)
c.1019G>T (p.Cys340Phe)
c.351C>A (p.Gly117=)
n.600C>A
 gnomAD v4
11g.72108844C>ACA6168643ANAPC15,LRRC51,LRTOMT,TOMTc.696C>A (p.Cys232Ter)
c.*206C>A (n.*206C>A)
c.795C>A (p.Cys265Ter)
c.*514C>A (n.*514C>A)
c.64-1239G>T (n.64-1239G>T)
c.*130G>T (n.*130G>T)
c.319-1239G>T (n.319-1239G>T)
c.675C>A (p.Cys225Ter)
c.1020C>A (p.Cys340Ter)
c.350G>T (p.Gly117Val)
n.599G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72108844C=CA1981841121ANAPC15,LRRC51,LRTOMT,TOMTc.696C= (p.Cys232=)
c.*206C= (n.*206C=)
c.795C= (p.Cys265=)
c.*514C= (n.*514C=)
c.64-1239G= (n.64-1239G=)
c.*130G= (n.*130G=)
c.319-1239G= (n.319-1239G=)
c.675C= (p.Cys225=)
c.1020C= (p.Cys340=)
c.350G= (p.Gly117=)
n.599G=
11g.72108844C>GCA381727153ANAPC15,LRRC51,LRTOMT,TOMTc.696C>G (p.Cys232Trp)
c.*206C>G (n.*206C>G)
c.795C>G (p.Cys265Trp)
c.*514C>G (n.*514C>G)
c.64-1239G>C (n.64-1239G>C)
c.*130G>C (n.*130G>C)
c.319-1239G>C (n.319-1239G>C)
c.675C>G (p.Cys225Trp)
c.1020C>G (p.Cys340Trp)
c.350G>C (p.Gly117Ala)
n.599G>C
11g.72108844C>TCA475592732ANAPC15,LRRC51,LRTOMT,TOMTc.696C>T (p.Cys232=)
c.*206C>T (n.*206C>T)
c.795C>T (p.Cys265=)
c.*514C>T (n.*514C>T)
c.64-1239G>A (n.64-1239G>A)
c.*130G>A (n.*130G>A)
c.319-1239G>A (n.319-1239G>A)
c.675C>T (p.Cys225=)
c.1020C>T (p.Cys340=)
c.350G>A (p.Gly117Asp)
n.599G>A
 gnomAD v4
11g.72108845C>ACA381727164ANAPC15,LRRC51,LRTOMT,TOMTc.697C>A (p.Arg233Ser)
c.*207C>A (n.*207C>A)
c.796C>A (p.Arg266Ser)
c.*515C>A (n.*515C>A)
c.64-1240G>T (n.64-1240G>T)
c.*129G>T (n.*129G>T)
c.319-1240G>T (n.319-1240G>T)
c.676C>A (p.Arg226Ser)
c.1021C>A (p.Arg341Ser)
c.349G>T (p.Gly117Cys)
n.598G>T
11g.72108845C=CA1981841122ANAPC15,LRRC51,LRTOMT,TOMTc.697C= (p.Arg233=)
c.*207C= (n.*207C=)
c.796C= (p.Arg266=)
c.*515C= (n.*515C=)
c.64-1240G= (n.64-1240G=)
c.*129G= (n.*129G=)
c.319-1240G= (n.319-1240G=)
c.676C= (p.Arg226=)
c.1021C= (p.Arg341=)
c.349G= (p.Gly117=)
n.598G=
11g.72108845C>GCA381727166ANAPC15,LRRC51,LRTOMT,TOMTc.697C>G (p.Arg233Gly)
c.*207C>G (n.*207C>G)
c.796C>G (p.Arg266Gly)
c.*515C>G (n.*515C>G)
c.64-1240G>C (n.64-1240G>C)
c.*129G>C (n.*129G>C)
c.319-1240G>C (n.319-1240G>C)
c.676C>G (p.Arg226Gly)
c.1021C>G (p.Arg341Gly)
c.349G>C (p.Gly117Arg)
n.598G>C
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched