Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.31462503G>ACA395733150ARMC5c.956G>A (p.Gly319Asp)
c.1241G>A (p.Gly414Asp)
c.464G>A (p.Gly155Asp)
c.213-269G>A
c.1052G>A (p.Gly351Asp)
 COSMIC COSMIC
16g.31462503G>CCA395733151ARMC5c.956G>C (p.Gly319Ala)
c.1241G>C (p.Gly414Ala)
c.464G>C (p.Gly155Ala)
c.213-269G>C
c.1052G>C (p.Gly351Ala)
16g.31462503G>TCA395733152ARMC5c.956G>T (p.Gly319Val)
c.1241G>T (p.Gly414Val)
c.464G>T (p.Gly155Val)
c.213-269G>T
c.1052G>T (p.Gly351Val)
16g.31462504C>ACA494933812ARMC5c.957C>A (p.Gly319=)
c.1242C>A (p.Gly414=)
c.465C>A (p.Gly155=)
c.213-268C>A
c.1053C>A (p.Gly351=)
16g.31462504C>GCA494933815ARMC5c.957C>G (p.Gly319=)
c.1242C>G (p.Gly414=)
c.465C>G (p.Gly155=)
c.213-268C>G
c.1053C>G (p.Gly351=)
16g.31462504C>TCA494933817ARMC5c.957C>T (p.Gly319=)
c.1242C>T (p.Gly414=)
c.465C>T (p.Gly155=)
c.213-268C>T
c.1053C>T (p.Gly351=)
 gnomAD v4
16g.31462505A>CCA395733153ARMC5c.958A>C (p.Asn320His)
c.1243A>C (p.Asn415His)
c.466A>C (p.Asn156His)
c.213-267A>C
c.1054A>C (p.Asn352His)
16g.31462505A>GCA395733155ARMC5c.958A>G (p.Asn320Asp)
c.1243A>G (p.Asn415Asp)
c.466A>G (p.Asn156Asp)
c.213-267A>G
c.1054A>G (p.Asn352Asp)
16g.31462505A>TCA395733157ARMC5c.958A>T (p.Asn320Tyr)
c.1243A>T (p.Asn415Tyr)
c.466A>T (p.Asn156Tyr)
c.213-267A>T
c.1054A>T (p.Asn352Tyr)
16g.31462506A=CA2217060661ARMC5c.959A= (p.Asn320=)
c.1244A= (p.Asn415=)
c.467A= (p.Asn156=)
c.213-266A=
c.1055A= (p.Asn352=)
16g.31462506A>CCA395733159ARMC5c.959A>C (p.Asn320Thr)
c.1244A>C (p.Asn415Thr)
c.467A>C (p.Asn156Thr)
c.213-266A>C
c.1055A>C (p.Asn352Thr)
16g.31462506A>GCA8029580ARMC5c.959A>G (p.Asn320Ser)
c.1244A>G (p.Asn415Ser)
c.467A>G (p.Asn156Ser)
c.213-266A>G
c.1055A>G (p.Asn352Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462506A>TCA8029581ARMC5c.959A>T (p.Asn320Ile)
c.1244A>T (p.Asn415Ile)
c.467A>T (p.Asn156Ile)
c.213-266A>T
c.1055A>T (p.Asn352Ile)
 dbSNP ExAC gnomAD v2
16g.31462507T>ACA395733163ARMC5c.960T>A (p.Asn320Lys)
c.1245T>A (p.Asn415Lys)
c.468T>A (p.Asn156Lys)
c.213-265T>A
c.1056T>A (p.Asn352Lys)
16g.31462507T>CCA8029582ARMC5c.960T>C (p.Asn320=)
c.1245T>C (p.Asn415=)
c.468T>C (p.Asn156=)
c.213-265T>C
c.1056T>C (p.Asn352=)
 dbSNP ExAC gnomAD v4
16g.31462507T>GCA395733165ARMC5c.960T>G (p.Asn320Lys)
c.1245T>G (p.Asn415Lys)
c.468T>G (p.Asn156Lys)
c.213-265T>G
c.1056T>G (p.Asn352Lys)
16g.31462507T=CA2217060662ARMC5c.960T= (p.Asn320=)
c.1245T= (p.Asn415=)
c.468T= (p.Asn156=)
c.213-265T=
c.1056T= (p.Asn352=)
16g.31462508G>ACA395733171ARMC5c.961G>A (p.Ala321Thr)
c.1246G>A (p.Ala416Thr)
c.469G>A (p.Ala157Thr)
c.213-264G>A
c.1057G>A (p.Ala353Thr)
16g.31462508G>CCA395733170ARMC5c.961G>C (p.Ala321Pro)
c.1246G>C (p.Ala416Pro)
c.469G>C (p.Ala157Pro)
c.213-264G>C
c.1057G>C (p.Ala353Pro)
16g.31462508G>TCA395733168ARMC5c.961G>T (p.Ala321Ser)
c.1246G>T (p.Ala416Ser)
c.469G>T (p.Ala157Ser)
c.213-264G>T
c.1057G>T (p.Ala353Ser)
 gnomAD v4
16g.31462509C>ACA395733174ARMC5c.962C>A (p.Ala321Asp)
c.1247C>A (p.Ala416Asp)
c.470C>A (p.Ala157Asp)
c.213-263C>A
c.1058C>A (p.Ala353Asp)
16g.31462509C=CA2217060663ARMC5c.962C= (p.Ala321=)
c.1247C= (p.Ala416=)
c.470C= (p.Ala157=)
c.213-263C=
c.1058C= (p.Ala353=)
16g.31462509C>GCA395733176ARMC5c.962C>G (p.Ala321Gly)
c.1247C>G (p.Ala416Gly)
c.470C>G (p.Ala157Gly)
c.213-263C>G
c.1058C>G (p.Ala353Gly)
 gnomAD v4
16g.31462509C>TCA280639860ARMC5c.962C>T (p.Ala321Val)
c.1247C>T (p.Ala416Val)
c.470C>T (p.Ala157Val)
c.213-263C>T
c.1058C>T (p.Ala353Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.31462510T>ACA494933836ARMC5c.963T>A (p.Ala321=)
c.1248T>A (p.Ala416=)
c.471T>A (p.Ala157=)
c.213-262T>A
c.1059T>A (p.Ala353=)
16g.31462510T>CCA494933838ARMC5c.963T>C (p.Ala321=)
c.1248T>C (p.Ala416=)
c.471T>C (p.Ala157=)
c.213-262T>C
c.1059T>C (p.Ala353=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462510T>GCA494933837ARMC5c.963T>G (p.Ala321=)
c.1248T>G (p.Ala416=)
c.471T>G (p.Ala157=)
c.213-262T>G
c.1059T>G (p.Ala353=)
 gnomAD v4
16g.31462510T=CA2217060664ARMC5c.963T= (p.Ala321=)
c.1248T= (p.Ala416=)
c.471T= (p.Ala157=)
c.213-262T=
c.1059T= (p.Ala353=)
16g.31462511G>ACA395733182ARMC5c.964G>A (p.Gly322Ser)
c.1249G>A (p.Gly417Ser)
c.472G>A (p.Gly158Ser)
c.213-261G>A
c.1060G>A (p.Gly354Ser)
 gnomAD v4
16g.31462511G>CCA395733183ARMC5c.964G>C (p.Gly322Arg)
c.1249G>C (p.Gly417Arg)
c.472G>C (p.Gly158Arg)
c.213-261G>C
c.1060G>C (p.Gly354Arg)
16g.31462511G>TCA395733185ARMC5c.964G>T (p.Gly322Cys)
c.1249G>T (p.Gly417Cys)
c.472G>T (p.Gly158Cys)
c.213-261G>T
c.1060G>T (p.Gly354Cys)
16g.31462512G>ACA395733187ARMC5c.965G>A (p.Gly322Asp)
c.1250G>A (p.Gly417Asp)
c.473G>A (p.Gly158Asp)
c.213-260G>A
c.1061G>A (p.Gly354Asp)
16g.31462512G>CCA395733190ARMC5c.965G>C (p.Gly322Ala)
c.1250G>C (p.Gly417Ala)
c.473G>C (p.Gly158Ala)
c.213-260G>C
c.1061G>C (p.Gly354Ala)
16g.31462512G>TCA395733191ARMC5c.965G>T (p.Gly322Val)
c.1250G>T (p.Gly417Val)
c.473G>T (p.Gly158Val)
c.213-260G>T
c.1061G>T (p.Gly354Val)
16g.31462513T>ACA494933846ARMC5c.966T>A (p.Gly322=)
c.1251T>A (p.Gly417=)
c.474T>A (p.Gly158=)
c.213-259T>A
c.1062T>A (p.Gly354=)
16g.31462513T>CCA494933847ARMC5c.966T>C (p.Gly322=)
c.1251T>C (p.Gly417=)
c.474T>C (p.Gly158=)
c.213-259T>C
c.1062T>C (p.Gly354=)
16g.31462513T>GCA494933848ARMC5c.966T>G (p.Gly322=)
c.1251T>G (p.Gly417=)
c.474T>G (p.Gly158=)
c.213-259T>G
c.1062T>G (p.Gly354=)
16g.31462514G>ACA395733196ARMC5c.967G>A (p.Gly323Ser)
c.1252G>A (p.Gly418Ser)
c.475G>A (p.Gly159Ser)
c.213-258G>A
c.1063G>A (p.Gly355Ser)
16g.31462514G>CCA395733198ARMC5c.967G>C (p.Gly323Arg)
c.1252G>C (p.Gly418Arg)
c.475G>C (p.Gly159Arg)
c.213-258G>C
c.1063G>C (p.Gly355Arg)
16g.31462514G>TCA395733200ARMC5c.967G>T (p.Gly323Cys)
c.1252G>T (p.Gly418Cys)
c.475G>T (p.Gly159Cys)
c.213-258G>T
c.1063G>T (p.Gly355Cys)
 gnomAD v4
16g.31462515G>ACA395733201ARMC5c.968G>A (p.Gly323Asp)
c.1253G>A (p.Gly418Asp)
c.476G>A (p.Gly159Asp)
c.213-257G>A
c.1064G>A (p.Gly355Asp)
 ClinVar dbSNP
16g.31462515G>CCA8029583ARMC5c.968G>C (p.Gly323Ala)
c.1253G>C (p.Gly418Ala)
c.476G>C (p.Gly159Ala)
c.213-257G>C
c.1064G>C (p.Gly355Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462515G=CA2217060665ARMC5c.968G= (p.Gly323=)
c.1253G= (p.Gly418=)
c.476G= (p.Gly159=)
c.213-257G=
c.1064G= (p.Gly355=)
16g.31462515G>TCA395733202ARMC5c.968G>T (p.Gly323Val)
c.1253G>T (p.Gly418Val)
c.476G>T (p.Gly159Val)
c.213-257G>T
c.1064G>T (p.Gly355Val)
16g.31462516C>ACA494933858ARMC5c.969C>A (p.Gly323=)
c.1254C>A (p.Gly418=)
c.477C>A (p.Gly159=)
c.213-256C>A
c.1065C>A (p.Gly355=)
16g.31462516C=CA2217060666ARMC5c.969C= (p.Gly323=)
c.1254C= (p.Gly418=)
c.477C= (p.Gly159=)
c.213-256C=
c.1065C= (p.Gly355=)
16g.31462516C>GCA494933864ARMC5c.969C>G (p.Gly323=)
c.1254C>G (p.Gly418=)
c.477C>G (p.Gly159=)
c.213-256C>G
c.1065C>G (p.Gly355=)
16g.31462516C>TCA8029584ARMC5c.969C>T (p.Gly323=)
c.1254C>T (p.Gly418=)
c.477C>T (p.Gly159=)
c.213-256C>T
c.1065C>T (p.Gly355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462517G>ACA8029585ARMC5c.970G>A (p.Val324Met)
c.1255G>A (p.Val419Met)
c.478G>A (p.Val160Met)
c.213-255G>A
c.1066G>A (p.Val356Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.31462517G>CCA395733203ARMC5c.970G>C (p.Val324Leu)
c.1255G>C (p.Val419Leu)
c.478G>C (p.Val160Leu)
c.213-255G>C
c.1066G>C (p.Val356Leu)
16g.31462517G=CA2217060667ARMC5c.970G= (p.Val324=)
c.1255G= (p.Val419=)
c.478G= (p.Val160=)
c.213-255G=
c.1066G= (p.Val356=)
16g.31462517G>TCA395733204ARMC5c.970G>T (p.Val324Leu)
c.1255G>T (p.Val419Leu)
c.478G>T (p.Val160Leu)
c.213-255G>T
c.1066G>T (p.Val356Leu)
16g.31462518T>ACA395733205ARMC5c.971T>A (p.Val324Glu)
c.1256T>A (p.Val419Glu)
c.479T>A (p.Val160Glu)
c.213-254T>A
c.1067T>A (p.Val356Glu)
16g.31462518T>CCA395733207ARMC5c.971T>C (p.Val324Ala)
c.1256T>C (p.Val419Ala)
c.479T>C (p.Val160Ala)
c.213-254T>C
c.1067T>C (p.Val356Ala)
16g.31462518T>GCA395733206ARMC5c.971T>G (p.Val324Gly)
c.1256T>G (p.Val419Gly)
c.479T>G (p.Val160Gly)
c.213-254T>G
c.1067T>G (p.Val356Gly)
16g.31462519G>ACA494933875ARMC5c.972G>A (p.Val324=)
c.1257G>A (p.Val419=)
c.480G>A (p.Val160=)
c.213-253G>A
c.1068G>A (p.Val356=)
16g.31462519G>CCA494933878ARMC5c.972G>C (p.Val324=)
c.1257G>C (p.Val419=)
c.480G>C (p.Val160=)
c.213-253G>C
c.1068G>C (p.Val356=)
16g.31462519G>TCA494933873ARMC5c.972G>T (p.Val324=)
c.1257G>T (p.Val419=)
c.480G>T (p.Val160=)
c.213-253G>T
c.1068G>T (p.Val356=)
 gnomAD v4
16g.31462520G>ACA395733208ARMC5c.973G>A (p.Glu325Lys)
c.1258G>A (p.Glu420Lys)
c.481G>A (p.Glu161Lys)
c.213-252G>A
c.1069G>A (p.Glu357Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.31462520G>CCA395733209ARMC5c.973G>C (p.Glu325Gln)
c.1258G>C (p.Glu420Gln)
c.481G>C (p.Glu161Gln)
c.213-252G>C
c.1069G>C (p.Glu357Gln)
16g.31462520G=CA2217060668ARMC5c.973G= (p.Glu325=)
c.1258G= (p.Glu420=)
c.481G= (p.Glu161=)
c.213-252G=
c.1069G= (p.Glu357=)
16g.31462520G>TCA395733210ARMC5c.973G>T (p.Glu325Ter)
c.1258G>T (p.Glu420Ter)
c.481G>T (p.Glu161Ter)
c.213-252G>T
c.1069G>T (p.Glu357Ter)
 gnomAD v4
16g.31462521A=CA2217060669ARMC5c.974A= (p.Glu325=)
c.1259A= (p.Glu420=)
c.482A= (p.Glu161=)
c.213-251A=
c.1070A= (p.Glu357=)
16g.31462521A>CCA395733211ARMC5c.974A>C (p.Glu325Ala)
c.1259A>C (p.Glu420Ala)
c.482A>C (p.Glu161Ala)
c.213-251A>C
c.1070A>C (p.Glu357Ala)
16g.31462521A>GCA395733212ARMC5c.974A>G (p.Glu325Gly)
c.1259A>G (p.Glu420Gly)
c.482A>G (p.Glu161Gly)
c.213-251A>G
c.1070A>G (p.Glu357Gly)
16g.31462521A>TCA8029586ARMC5c.974A>T (p.Glu325Val)
c.1259A>T (p.Glu420Val)
c.482A>T (p.Glu161Val)
c.213-251A>T
c.1070A>T (p.Glu357Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462522G>ACA494933886ARMC5c.975G>A (p.Glu325=)
c.1260G>A (p.Glu420=)
c.483G>A (p.Glu161=)
c.213-250G>A
c.1071G>A (p.Glu357=)
16g.31462522G>CCA395733213ARMC5c.975G>C (p.Glu325Asp)
c.1260G>C (p.Glu420Asp)
c.483G>C (p.Glu161Asp)
c.213-250G>C
c.1071G>C (p.Glu357Asp)
16g.31462522G>TCA395733214ARMC5c.975G>T (p.Glu325Asp)
c.1260G>T (p.Glu420Asp)
c.483G>T (p.Glu161Asp)
c.213-250G>T
c.1071G>T (p.Glu357Asp)
 COSMIC
16g.31462523G>ACA395733215ARMC5c.976G>A (p.Val326Met)
c.1261G>A (p.Val421Met)
c.484G>A (p.Val162Met)
c.213-249G>A
c.1072G>A (p.Val358Met)
16g.31462523G>CCA395733216ARMC5c.976G>C (p.Val326Leu)
c.1261G>C (p.Val421Leu)
c.484G>C (p.Val162Leu)
c.213-249G>C
c.1072G>C (p.Val358Leu)
16g.31462523G=CA2217060670ARMC5c.976G= (p.Val326=)
c.1261G= (p.Val421=)
c.484G= (p.Val162=)
c.213-249G=
c.1072G= (p.Val358=)
16g.31462523G>TCA395733217ARMC5c.976G>T (p.Val326Leu)
c.1261G>T (p.Val421Leu)
c.484G>T (p.Val162Leu)
c.213-249G>T
c.1072G>T (p.Val358Leu)
 dbSNP gnomAD v4
16g.31462524T>ACA395733220ARMC5c.977T>A (p.Val326Glu)
c.1262T>A (p.Val421Glu)
c.485T>A (p.Val162Glu)
c.213-248T>A
c.1073T>A (p.Val358Glu)
16g.31462524T>CCA395733219ARMC5c.977T>C (p.Val326Ala)
c.1262T>C (p.Val421Ala)
c.485T>C (p.Val162Ala)
c.213-248T>C
c.1073T>C (p.Val358Ala)
16g.31462524T>GCA395733218ARMC5c.977T>G (p.Val326Gly)
c.1262T>G (p.Val421Gly)
c.485T>G (p.Val162Gly)
c.213-248T>G
c.1073T>G (p.Val358Gly)
 dbSNP
16g.31462524T=CA2217060671ARMC5c.977T= (p.Val326=)
c.1262T= (p.Val421=)
c.485T= (p.Val162=)
c.213-248T=
c.1073T= (p.Val358=)
16g.31462525G>ACA280639867ARMC5c.978G>A (p.Val326=)
c.1263G>A (p.Val421=)
c.486G>A (p.Val162=)
c.213-247G>A
c.1074G>A (p.Val358=)
 dbSNP
16g.31462525G>CCA494933904ARMC5c.978G>C (p.Val326=)
c.1263G>C (p.Val421=)
c.486G>C (p.Val162=)
c.213-247G>C
c.1074G>C (p.Val358=)
 dbSNP
16g.31462525G=CA2217060672ARMC5c.978G= (p.Val326=)
c.1263G= (p.Val421=)
c.486G= (p.Val162=)
c.213-247G=
c.1074G= (p.Val358=)
16g.31462525G>TCA494933907ARMC5c.978G>T (p.Val326=)
c.1263G>T (p.Val421=)
c.486G>T (p.Val162=)
c.213-247G>T
c.1074G>T (p.Val358=)
16g.31462526C>ACA395733221ARMC5c.979C>A (p.Leu327Met)
c.1264C>A (p.Leu422Met)
c.487C>A (p.Leu163Met)
c.213-246C>A
c.1075C>A (p.Leu359Met)
16g.31462526C>GCA395733222ARMC5c.979C>G (p.Leu327Val)
c.1264C>G (p.Leu422Val)
c.487C>G (p.Leu163Val)
c.213-246C>G
c.1075C>G (p.Leu359Val)
16g.31462526C>TCA494933910ARMC5c.979C>T (p.Leu327=)
c.1264C>T (p.Leu422=)
c.487C>T (p.Leu163=)
c.213-246C>T
c.1075C>T (p.Leu359=)
16g.31462527T>ACA395733223ARMC5c.980T>A (p.Leu327Gln)
c.1265T>A (p.Leu422Gln)
c.488T>A (p.Leu163Gln)
c.213-245T>A
c.1076T>A (p.Leu359Gln)
16g.31462527T>CCA395733224ARMC5c.980T>C (p.Leu327Pro)
c.1265T>C (p.Leu422Pro)
c.488T>C (p.Leu163Pro)
c.213-245T>C
c.1076T>C (p.Leu359Pro)
16g.31462527T>GCA395733225ARMC5c.980T>G (p.Leu327Arg)
c.1265T>G (p.Leu422Arg)
c.488T>G (p.Leu163Arg)
c.213-245T>G
c.1076T>G (p.Leu359Arg)
16g.31462528G>ACA494933915ARMC5c.981G>A (p.Leu327=)
c.1266G>A (p.Leu422=)
c.489G>A (p.Leu163=)
c.213-244G>A
c.1077G>A (p.Leu359=)
16g.31462528G>CCA494933916ARMC5c.981G>C (p.Leu327=)
c.1266G>C (p.Leu422=)
c.489G>C (p.Leu163=)
c.213-244G>C
c.1077G>C (p.Leu359=)
16g.31462528G=CA2217060673ARMC5c.981G= (p.Leu327=)
c.1266G= (p.Leu422=)
c.489G= (p.Leu163=)
c.213-244G=
c.1077G= (p.Leu359=)
16g.31462528G>TCA280639870ARMC5c.981G>T (p.Leu327=)
c.1266G>T (p.Leu422=)
c.489G>T (p.Leu163=)
c.213-244G>T
c.1077G>T (p.Leu359=)
 dbSNP
16g.31462529G>ACA395733226ARMC5c.982G>A (p.Val328Ile)
c.1267G>A (p.Val423Ile)
c.490G>A (p.Val164Ile)
c.213-243G>A
c.1078G>A (p.Val360Ile)
 dbSNP gnomAD v4
16g.31462529G>CCA395733227ARMC5c.982G>C (p.Val328Leu)
c.1267G>C (p.Val423Leu)
c.490G>C (p.Val164Leu)
c.213-243G>C
c.1078G>C (p.Val360Leu)
16g.31462529G=CA2217060674ARMC5c.982G= (p.Val328=)
c.1267G= (p.Val423=)
c.490G= (p.Val164=)
c.213-243G=
c.1078G= (p.Val360=)
16g.31462529G>TCA395733228ARMC5c.982G>T (p.Val328Leu)
c.1267G>T (p.Val423Leu)
c.490G>T (p.Val164Leu)
c.213-243G>T
c.1078G>T (p.Val360Leu)
 dbSNP
16g.31462530T>ACA395733229ARMC5c.983T>A (p.Val328Glu)
c.1268T>A (p.Val423Glu)
c.491T>A (p.Val164Glu)
c.213-242T>A
c.1079T>A (p.Val360Glu)
16g.31462530T>CCA395733230ARMC5c.983T>C (p.Val328Ala)
c.1268T>C (p.Val423Ala)
c.491T>C (p.Val164Ala)
c.213-242T>C
c.1079T>C (p.Val360Ala)
16g.31462530T>GCA395733231ARMC5c.983T>G (p.Val328Gly)
c.1268T>G (p.Val423Gly)
c.491T>G (p.Val164Gly)
c.213-242T>G
c.1079T>G (p.Val360Gly)
16g.31462531A>CCA494933923ARMC5c.984A>C (p.Val328=)
c.1269A>C (p.Val423=)
c.492A>C (p.Val164=)
c.213-241A>C
c.1080A>C (p.Val360=)
16g.31462531A>GCA494933925ARMC5c.984A>G (p.Val328=)
c.1269A>G (p.Val423=)
c.492A>G (p.Val164=)
c.213-241A>G
c.1080A>G (p.Val360=)
 gnomAD v4
16g.31462531A>TCA494933927ARMC5c.984A>T (p.Val328=)
c.1269A>T (p.Val423=)
c.492A>T (p.Val164=)
c.213-241A>T
c.1080A>T (p.Val360=)
16g.31462532G>ACA395733234ARMC5c.985G>A (p.Asp329Asn)
c.1270G>A (p.Asp424Asn)
c.493G>A (p.Asp165Asn)
c.213-240G>A
c.1081G>A (p.Asp361Asn)
16g.31462532G>CCA395733233ARMC5c.985G>C (p.Asp329His)
c.1270G>C (p.Asp424His)
c.493G>C (p.Asp165His)
c.213-240G>C
c.1081G>C (p.Asp361His)
16g.31462532G>TCA395733232ARMC5c.985G>T (p.Asp329Tyr)
c.1270G>T (p.Asp424Tyr)
c.493G>T (p.Asp165Tyr)
c.213-240G>T
c.1081G>T (p.Asp361Tyr)
 gnomAD v4
16g.31462533A>CCA395733235ARMC5c.986A>C (p.Asp329Ala)
c.1271A>C (p.Asp424Ala)
c.494A>C (p.Asp165Ala)
c.213-239A>C
c.1082A>C (p.Asp361Ala)
16g.31462533A>GCA395733236ARMC5c.986A>G (p.Asp329Gly)
c.1271A>G (p.Asp424Gly)
c.494A>G (p.Asp165Gly)
c.213-239A>G
c.1082A>G (p.Asp361Gly)
16g.31462533A>TCA395733237ARMC5c.986A>T (p.Asp329Val)
c.1271A>T (p.Asp424Val)
c.494A>T (p.Asp165Val)
c.213-239A>T
c.1082A>T (p.Asp361Val)
16g.31462534T>ACA395733238ARMC5c.987T>A (p.Asp329Glu)
c.1272T>A (p.Asp424Glu)
c.495T>A (p.Asp165Glu)
c.213-238T>A
c.1083T>A (p.Asp361Glu)
16g.31462534T>CCA494933936ARMC5c.987T>C (p.Asp329=)
c.1272T>C (p.Asp424=)
c.495T>C (p.Asp165=)
c.213-238T>C
c.1083T>C (p.Asp361=)
16g.31462534T>GCA395733239ARMC5c.987T>G (p.Asp329Glu)
c.1272T>G (p.Asp424Glu)
c.495T>G (p.Asp165Glu)
c.213-238T>G
c.1083T>G (p.Asp361Glu)
16g.31462535delCA2632876633ARMC5c.988del (p.Glu330SerfsTer?)
c.1273del (p.Glu425SerfsTer?)
c.496del (p.Glu166SerfsTer?)
c.213-237del
c.1084del (p.Glu362SerfsTer?)
 gnomAD v4
16g.31462535G>ACA395733240ARMC5c.988G>A (p.Glu330Lys)
c.1273G>A (p.Glu425Lys)
c.496G>A (p.Glu166Lys)
c.213-237G>A
c.1084G>A (p.Glu362Lys)
16g.31462535G>CCA395733241ARMC5c.988G>C (p.Glu330Gln)
c.1273G>C (p.Glu425Gln)
c.496G>C (p.Glu166Gln)
c.213-237G>C
c.1084G>C (p.Glu362Gln)
16g.31462535G>TCA395733242ARMC5c.988G>T (p.Glu330Ter)
c.1273G>T (p.Glu425Ter)
c.496G>T (p.Glu166Ter)
c.213-237G>T
c.1084G>T (p.Glu362Ter)
16g.31462536A=CA2217060675ARMC5c.989A= (p.Glu330=)
c.1274A= (p.Glu425=)
c.497A= (p.Glu166=)
c.213-236A=
c.1085A= (p.Glu362=)
16g.31462536A>CCA395733243ARMC5c.989A>C (p.Glu330Ala)
c.1274A>C (p.Glu425Ala)
c.497A>C (p.Glu166Ala)
c.213-236A>C
c.1085A>C (p.Glu362Ala)
16g.31462536A>GCA395733244ARMC5c.989A>G (p.Glu330Gly)
c.1274A>G (p.Glu425Gly)
c.497A>G (p.Glu166Gly)
c.213-236A>G
c.1085A>G (p.Glu362Gly)
 dbSNP
16g.31462536A>TCA395733245ARMC5c.989A>T (p.Glu330Val)
c.1274A>T (p.Glu425Val)
c.497A>T (p.Glu166Val)
c.213-236A>T
c.1085A>T (p.Glu362Val)
16g.31462537G>ACA494933941ARMC5c.990G>A (p.Glu330=)
c.1275G>A (p.Glu425=)
c.498G>A (p.Glu166=)
c.213-235G>A
c.1086G>A (p.Glu362=)
16g.31462537G>CCA395733246ARMC5c.990G>C (p.Glu330Asp)
c.1275G>C (p.Glu425Asp)
c.498G>C (p.Glu166Asp)
c.213-235G>C
c.1086G>C (p.Glu362Asp)
16g.31462537G>TCA395733247ARMC5c.990G>T (p.Glu330Asp)
c.1275G>T (p.Glu425Asp)
c.498G>T (p.Glu166Asp)
c.213-235G>T
c.1086G>T (p.Glu362Asp)
16g.31462538C>ACA395733250ARMC5c.991C>A (p.Leu331Ile)
c.1276C>A (p.Leu426Ile)
c.499C>A (p.Leu167Ile)
c.213-234C>A
c.1087C>A (p.Leu363Ile)
16g.31462538C>GCA395733248ARMC5c.991C>G (p.Leu331Val)
c.1276C>G (p.Leu426Val)
c.499C>G (p.Leu167Val)
c.213-234C>G
c.1087C>G (p.Leu363Val)
16g.31462538C>TCA395733249ARMC5c.991C>T (p.Leu331Phe)
c.1276C>T (p.Leu426Phe)
c.499C>T (p.Leu167Phe)
c.213-234C>T
c.1087C>T (p.Leu363Phe)
16g.31462539T>ACA395733251ARMC5c.992T>A (p.Leu331His)
c.1277T>A (p.Leu426His)
c.500T>A (p.Leu167His)
c.213-233T>A
c.1088T>A (p.Leu363His)
16g.31462539T>CCA395733252ARMC5c.992T>C (p.Leu331Pro)
c.1277T>C (p.Leu426Pro)
c.500T>C (p.Leu167Pro)
c.213-233T>C
c.1088T>C (p.Leu363Pro)
16g.31462539T>GCA395733253ARMC5c.992T>G (p.Leu331Arg)
c.1277T>G (p.Leu426Arg)
c.500T>G (p.Leu167Arg)
c.213-233T>G
c.1088T>G (p.Leu363Arg)
16g.31462540C>ACA494933947ARMC5c.993C>A (p.Leu331=)
c.1278C>A (p.Leu426=)
c.501C>A (p.Leu167=)
c.213-232C>A
c.1089C>A (p.Leu363=)
16g.31462540C>GCA494933949ARMC5c.993C>G (p.Leu331=)
c.1278C>G (p.Leu426=)
c.501C>G (p.Leu167=)
c.213-232C>G
c.1089C>G (p.Leu363=)
16g.31462540C>TCA494933948ARMC5c.993C>T (p.Leu331=)
c.1278C>T (p.Leu426=)
c.501C>T (p.Leu167=)
c.213-232C>T
c.1089C>T (p.Leu363=)
 gnomAD v4
16g.31462541delCA2732051727ARMC5c.994del (p.Arg332GlyfsTer?)
c.1279del (p.Arg427GlyfsTer?)
c.502del (p.Arg168GlyfsTer?)
c.213-231del
c.1090del (p.Arg364GlyfsTer?)
 dbSNP
16g.31462541C>ACA494933952ARMC5c.994C>A (p.Arg332=)
c.1279C>A (p.Arg427=)
c.502C>A (p.Arg168=)
c.213-231C>A
c.1090C>A (p.Arg364=)
 gnomAD v4
16g.31462541C=CA2217060676ARMC5c.994C= (p.Arg332=)
c.1279C= (p.Arg427=)
c.502C= (p.Arg168=)
c.213-231C=
c.1090C= (p.Arg364=)
16g.31462541C>GCA395733254ARMC5c.994C>G (p.Arg332Gly)
c.1279C>G (p.Arg427Gly)
c.502C>G (p.Arg168Gly)
c.213-231C>G
c.1090C>G (p.Arg364Gly)
16g.31462541C>TCA8029587ARMC5c.994C>T (p.Arg332Trp)
c.1279C>T (p.Arg427Trp)
c.502C>T (p.Arg168Trp)
c.213-231C>T
c.1090C>T (p.Arg364Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.31462542G>ACA280639878ARMC5c.995G>A (p.Arg332Gln)
c.1280G>A (p.Arg427Gln)
c.503G>A (p.Arg168Gln)
c.213-230G>A
c.1091G>A (p.Arg364Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462542G>CCA395733255ARMC5c.995G>C (p.Arg332Pro)
c.1280G>C (p.Arg427Pro)
c.503G>C (p.Arg168Pro)
c.213-230G>C
c.1091G>C (p.Arg364Pro)
16g.31462542G=CA2217060677ARMC5c.995G= (p.Arg332=)
c.1280G= (p.Arg427=)
c.503G= (p.Arg168=)
c.213-230G=
c.1091G= (p.Arg364=)
16g.31462542G>TCA395733256ARMC5c.995G>T (p.Arg332Leu)
c.1280G>T (p.Arg427Leu)
c.503G>T (p.Arg168Leu)
c.213-230G>T
c.1091G>T (p.Arg364Leu)
16g.31462543G>ACA494933955ARMC5c.996G>A (p.Arg332=)
c.1281G>A (p.Arg427=)
c.504G>A (p.Arg168=)
c.213-229G>A
c.1092G>A (p.Arg364=)
16g.31462543G>CCA494933956ARMC5c.996G>C (p.Arg332=)
c.1281G>C (p.Arg427=)
c.504G>C (p.Arg168=)
c.213-229G>C
c.1092G>C (p.Arg364=)
16g.31462543G>TCA494933957ARMC5c.996G>T (p.Arg332=)
c.1281G>T (p.Arg427=)
c.504G>T (p.Arg168=)
c.213-229G>T
c.1092G>T (p.Arg364=)
16g.31462544C>ACA395733257ARMC5c.997C>A (p.Gln333Lys)
c.1282C>A (p.Gln428Lys)
c.505C>A (p.Gln169Lys)
c.213-228C>A
c.1093C>A (p.Gln365Lys)
16g.31462544C>GCA395733258ARMC5c.997C>G (p.Gln333Glu)
c.1282C>G (p.Gln428Glu)
c.505C>G (p.Gln169Glu)
c.213-228C>G
c.1093C>G (p.Gln365Glu)
16g.31462544C>TCA395733259ARMC5c.997C>T (p.Gln333Ter)
c.1282C>T (p.Gln428Ter)
c.505C>T (p.Gln169Ter)
c.213-228C>T
c.1093C>T (p.Gln365Ter)
16g.31462545A>CCA395733262ARMC5c.998A>C (p.Gln333Pro)
c.1283A>C (p.Gln428Pro)
c.506A>C (p.Gln169Pro)
c.213-227A>C
c.1094A>C (p.Gln365Pro)
16g.31462545A>GCA395733261ARMC5c.998A>G (p.Gln333Arg)
c.1283A>G (p.Gln428Arg)
c.506A>G (p.Gln169Arg)
c.213-227A>G
c.1094A>G (p.Gln365Arg)
16g.31462545A>TCA395733260ARMC5c.998A>T (p.Gln333Leu)
c.1283A>T (p.Gln428Leu)
c.506A>T (p.Gln169Leu)
c.213-227A>T
c.1094A>T (p.Gln365Leu)
16g.31462546G>ACA494933963ARMC5c.999G>A (p.Gln333=)
c.1284G>A (p.Gln428=)
c.507G>A (p.Gln169=)
c.213-226G>A
c.1095G>A (p.Gln365=)
16g.31462546G>CCA395733263ARMC5c.999G>C (p.Gln333His)
c.1284G>C (p.Gln428His)
c.507G>C (p.Gln169His)
c.213-226G>C
c.1095G>C (p.Gln365His)
16g.31462546G>TCA395733264ARMC5c.999G>T (p.Gln333His)
c.1284G>T (p.Gln428His)
c.507G>T (p.Gln169His)
c.213-226G>T
c.1095G>T (p.Gln365His)
 gnomAD v4
16g.31462547C>ACA395733265ARMC5c.1000C>A (p.Arg334Ser)
c.1285C>A (p.Arg429Ser)
c.508C>A (p.Arg170Ser)
c.213-225C>A
c.1096C>A (p.Arg366Ser)
 gnomAD v4
16g.31462547C=CA2217060678ARMC5c.1000C= (p.Arg334=)
c.1285C= (p.Arg429=)
c.508C= (p.Arg170=)
c.213-225C=
c.1096C= (p.Arg366=)
16g.31462547C>GCA395733266ARMC5c.1000C>G (p.Arg334Gly)
c.1285C>G (p.Arg429Gly)
c.508C>G (p.Arg170Gly)
c.213-225C>G
c.1096C>G (p.Arg366Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462547C>TCA8029588ARMC5c.1000C>T (p.Arg334Cys)
c.1285C>T (p.Arg429Cys)
c.508C>T (p.Arg170Cys)
c.213-225C>T
c.1096C>T (p.Arg366Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.31462548G>ACA8029589ARMC5c.1001G>A (p.Arg334His)
c.1286G>A (p.Arg429His)
c.509G>A (p.Arg170His)
c.213-224G>A
c.1097G>A (p.Arg366His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462548G>CCA395733267ARMC5c.1001G>C (p.Arg334Pro)
c.1286G>C (p.Arg429Pro)
c.509G>C (p.Arg170Pro)
c.213-224G>C
c.1097G>C (p.Arg366Pro)
16g.31462548G=CA2217060679ARMC5c.1001G= (p.Arg334=)
c.1286G= (p.Arg429=)
c.509G= (p.Arg170=)
c.213-224G=
c.1097G= (p.Arg366=)
16g.31462548G>TCA395733268ARMC5c.1001G>T (p.Arg334Leu)
c.1286G>T (p.Arg429Leu)
c.509G>T (p.Arg170Leu)
c.213-224G>T
c.1097G>T (p.Arg366Leu)
16g.31462549C>ACA494933972ARMC5c.1002C>A (p.Arg334=)
c.1287C>A (p.Arg429=)
c.510C>A (p.Arg170=)
c.213-223C>A
c.1098C>A (p.Arg366=)
16g.31462549C>GCA494933973ARMC5c.1002C>G (p.Arg334=)
c.1287C>G (p.Arg429=)
c.510C>G (p.Arg170=)
c.213-223C>G
c.1098C>G (p.Arg366=)
16g.31462549C>TCA494933975ARMC5c.1002C>T (p.Arg334=)
c.1287C>T (p.Arg429=)
c.510C>T (p.Arg170=)
c.213-223C>T
c.1098C>T (p.Arg366=)
 gnomAD v4
16g.31462550C>ACA494933976ARMC5c.1003C>A (p.Arg335=)
c.1288C>A (p.Arg430=)
c.511C>A (p.Arg171=)
c.213-222C>A
c.1099C>A (p.Arg367=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462550C=CA2217060680ARMC5c.1003C= (p.Arg335=)
c.1288C= (p.Arg430=)
c.511C= (p.Arg171=)
c.213-222C=
c.1099C= (p.Arg367=)
16g.31462550C>GCA395733269ARMC5c.1003C>G (p.Arg335Gly)
c.1288C>G (p.Arg430Gly)
c.511C>G (p.Arg171Gly)
c.213-222C>G
c.1099C>G (p.Arg367Gly)
16g.31462550C>TCA8029590ARMC5c.1003C>T (p.Arg335Trp)
c.1288C>T (p.Arg430Trp)
c.511C>T (p.Arg171Trp)
c.213-222C>T
c.1099C>T (p.Arg367Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.31462551G>ACA8029591ARMC5c.1004G>A (p.Arg335Gln)
c.1289G>A (p.Arg430Gln)
c.512G>A (p.Arg171Gln)
c.213-221G>A
c.1100G>A (p.Arg367Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462551G>CCA8029592ARMC5c.1004G>C (p.Arg335Pro)
c.1289G>C (p.Arg430Pro)
c.512G>C (p.Arg171Pro)
c.213-221G>C
c.1100G>C (p.Arg367Pro)
 dbSNP ExAC gnomAD v2
16g.31462551G=CA2217060681ARMC5c.1004G= (p.Arg335=)
c.1289G= (p.Arg430=)
c.512G= (p.Arg171=)
c.213-221G=
c.1100G= (p.Arg367=)
16g.31462551G>TCA395733270ARMC5c.1004G>T (p.Arg335Leu)
c.1289G>T (p.Arg430Leu)
c.512G>T (p.Arg171Leu)
c.213-221G>T
c.1100G>T (p.Arg367Leu)
 gnomAD v4
16g.31462552G>ACA494933979ARMC5c.1005G>A (p.Arg335=)
c.1290G>A (p.Arg430=)
c.513G>A (p.Arg171=)
c.213-220G>A
c.1101G>A (p.Arg367=)
16g.31462552G>CCA494933984ARMC5c.1005G>C (p.Arg335=)
c.1290G>C (p.Arg430=)
c.513G>C (p.Arg171=)
c.213-220G>C
c.1101G>C (p.Arg367=)
16g.31462552G>TCA494933981ARMC5c.1005G>T (p.Arg335=)
c.1290G>T (p.Arg430=)
c.513G>T (p.Arg171=)
c.213-220G>T
c.1101G>T (p.Arg367=)
 gnomAD v4
16g.31462553G>ACA395733273ARMC5c.1006G>A (p.Asp336Asn)
c.1291G>A (p.Asp431Asn)
c.514G>A (p.Asp172Asn)
c.213-219G>A
c.1102G>A (p.Asp368Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.31462553G>CCA395733271ARMC5c.1006G>C (p.Asp336His)
c.1291G>C (p.Asp431His)
c.514G>C (p.Asp172His)
c.213-219G>C
c.1102G>C (p.Asp368His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462553G=CA2217060682ARMC5c.1006G= (p.Asp336=)
c.1291G= (p.Asp431=)
c.514G= (p.Asp172=)
c.213-219G=
c.1102G= (p.Asp368=)
16g.31462553G>TCA395733272ARMC5c.1006G>T (p.Asp336Tyr)
c.1291G>T (p.Asp431Tyr)
c.514G>T (p.Asp172Tyr)
c.213-219G>T
c.1102G>T (p.Asp368Tyr)
16g.31462554A=CA2217060683ARMC5c.1007A= (p.Asp336=)
c.1292A= (p.Asp431=)
c.515A= (p.Asp172=)
c.213-218A=
c.1103A= (p.Asp368=)
16g.31462554A>CCA395733274ARMC5c.1007A>C (p.Asp336Ala)
c.1292A>C (p.Asp431Ala)
c.515A>C (p.Asp172Ala)
c.213-218A>C
c.1103A>C (p.Asp368Ala)
16g.31462554A>GCA280639902ARMC5c.1007A>G (p.Asp336Gly)
c.1292A>G (p.Asp431Gly)
c.515A>G (p.Asp172Gly)
c.213-218A>G
c.1103A>G (p.Asp368Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.31462554A>TCA395733275ARMC5c.1007A>T (p.Asp336Val)
c.1292A>T (p.Asp431Val)
c.515A>T (p.Asp172Val)
c.213-218A>T
c.1103A>T (p.Asp368Val)
16g.31462555T>ACA395733276ARMC5c.1008T>A (p.Asp336Glu)
c.1293T>A (p.Asp431Glu)
c.516T>A (p.Asp172Glu)
c.213-217T>A
c.1104T>A (p.Asp368Glu)
16g.31462555T>CCA494933990ARMC5c.1008T>C (p.Asp336=)
c.1293T>C (p.Asp431=)
c.516T>C (p.Asp172=)
c.213-217T>C
c.1104T>C (p.Asp368=)
16g.31462555T>GCA395733277ARMC5c.1008T>G (p.Asp336Glu)
c.1293T>G (p.Asp431Glu)
c.516T>G (p.Asp172Glu)
c.213-217T>G
c.1104T>G (p.Asp368Glu)
16g.31462556C>ACA395733278ARMC5c.1009C>A (p.Pro337Thr)
c.1294C>A (p.Pro432Thr)
c.517C>A (p.Pro173Thr)
c.213-216C>A
c.1105C>A (p.Pro369Thr)
 gnomAD v4
16g.31462556C>GCA395733279ARMC5c.1009C>G (p.Pro337Ala)
c.1294C>G (p.Pro432Ala)
c.517C>G (p.Pro173Ala)
c.213-216C>G
c.1105C>G (p.Pro369Ala)
 gnomAD v4
16g.31462556C>TCA395733280ARMC5c.1009C>T (p.Pro337Ser)
c.1294C>T (p.Pro432Ser)
c.517C>T (p.Pro173Ser)
c.213-216C>T
c.1105C>T (p.Pro369Ser)
16g.31462557C>ACA395733281ARMC5c.1010C>A (p.Pro337His)
c.1295C>A (p.Pro432His)
c.518C>A (p.Pro173His)
c.213-215C>A
c.1106C>A (p.Pro369His)
16g.31462557C>GCA395733282ARMC5c.1010C>G (p.Pro337Arg)
c.1295C>G (p.Pro432Arg)
c.518C>G (p.Pro173Arg)
c.213-215C>G
c.1106C>G (p.Pro369Arg)
16g.31462557C>TCA395733283ARMC5c.1010C>T (p.Pro337Leu)
c.1295C>T (p.Pro432Leu)
c.518C>T (p.Pro173Leu)
c.213-215C>T
c.1106C>T (p.Pro369Leu)
16g.31462558T>ACA494933996ARMC5c.1011T>A (p.Pro337=)
c.1296T>A (p.Pro432=)
c.519T>A (p.Pro173=)
c.213-214T>A
c.1107T>A (p.Pro369=)
16g.31462558T>CCA494933998ARMC5c.1011T>C (p.Pro337=)
c.1296T>C (p.Pro432=)
c.519T>C (p.Pro173=)
c.213-214T>C
c.1107T>C (p.Pro369=)
16g.31462558T>GCA494933999ARMC5c.1011T>G (p.Pro337=)
c.1296T>G (p.Pro432=)
c.519T>G (p.Pro173=)
c.213-214T>G
c.1107T>G (p.Pro369=)
16g.31462559A>CCA395733285ARMC5c.1012A>C (p.Asn338His)
c.1297A>C (p.Asn433His)
c.520A>C (p.Asn174His)
c.213-213A>C
c.1108A>C (p.Asn370His)
 gnomAD v4
16g.31462559A>GCA395733286ARMC5c.1012A>G (p.Asn338Asp)
c.1297A>G (p.Asn433Asp)
c.520A>G (p.Asn174Asp)
c.213-213A>G
c.1108A>G (p.Asn370Asp)
 ClinVar gnomAD v4
16g.31462559A>TCA395733284ARMC5c.1012A>T (p.Asn338Tyr)
c.1297A>T (p.Asn433Tyr)
c.520A>T (p.Asn174Tyr)
c.213-213A>T
c.1108A>T (p.Asn370Tyr)
16g.31462560A>CCA395733287ARMC5c.1013A>C (p.Asn338Thr)
c.1298A>C (p.Asn433Thr)
c.521A>C (p.Asn174Thr)
c.213-212A>C
c.1109A>C (p.Asn370Thr)
16g.31462560A>GCA395733288ARMC5c.1013A>G (p.Asn338Ser)
c.1298A>G (p.Asn433Ser)
c.521A>G (p.Asn174Ser)
c.213-212A>G
c.1109A>G (p.Asn370Ser)
16g.31462560A>TCA395733289ARMC5c.1013A>T (p.Asn338Ile)
c.1298A>T (p.Asn433Ile)
c.521A>T (p.Asn174Ile)
c.213-212A>T
c.1109A>T (p.Asn370Ile)
16g.31462561T>ACA395733290ARMC5c.1014T>A (p.Asn338Lys)
c.1299T>A (p.Asn433Lys)
c.522T>A (p.Asn174Lys)
c.213-211T>A
c.1110T>A (p.Asn370Lys)
16g.31462561T>CCA494934004ARMC5c.1014T>C (p.Asn338=)
c.1299T>C (p.Asn433=)
c.522T>C (p.Asn174=)
c.213-211T>C
c.1110T>C (p.Asn370=)
16g.31462561T>GCA395733291ARMC5c.1014T>G (p.Asn338Lys)
c.1299T>G (p.Asn433Lys)
c.522T>G (p.Asn174Lys)
c.213-211T>G
c.1110T>G (p.Asn370Lys)
16g.31462562G>ACA8029593ARMC5c.1015G>A (p.Gly339Arg)
c.1300G>A (p.Gly434Arg)
c.523G>A (p.Gly175Arg)
c.213-210G>A
c.1111G>A (p.Gly371Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.31462562G>CCA395733293ARMC5c.1015G>C (p.Gly339Arg)
c.1300G>C (p.Gly434Arg)
c.523G>C (p.Gly175Arg)
c.213-210G>C
c.1111G>C (p.Gly371Arg)
16g.31462562G=CA2217060684ARMC5c.1015G= (p.Gly339=)
c.1300G= (p.Gly434=)
c.523G= (p.Gly175=)
c.213-210G=
c.1111G= (p.Gly371=)
16g.31462562G>TCA395733292ARMC5c.1015G>T (p.Gly339Ter)
c.1300G>T (p.Gly434Ter)
c.523G>T (p.Gly175Ter)
c.213-210G>T
c.1111G>T (p.Gly371Ter)
16g.31462563G>ACA395733294ARMC5c.1016G>A (p.Gly339Glu)
c.1301G>A (p.Gly434Glu)
c.524G>A (p.Gly175Glu)
c.213-209G>A
c.1112G>A (p.Gly371Glu)
16g.31462563G>CCA395733295ARMC5c.1016G>C (p.Gly339Ala)
c.1301G>C (p.Gly434Ala)
c.524G>C (p.Gly175Ala)
c.213-209G>C
c.1112G>C (p.Gly371Ala)
16g.31462563G>TCA395733296ARMC5c.1016G>T (p.Gly339Val)
c.1301G>T (p.Gly434Val)
c.524G>T (p.Gly175Val)
c.213-209G>T
c.1112G>T (p.Gly371Val)
 gnomAD v4
16g.31462564A=CA2217060685ARMC5c.1017A= (p.Gly339=)
c.1302A= (p.Gly434=)
c.525A= (p.Gly175=)
c.213-208A=
c.1113A= (p.Gly371=)
16g.31462564A>CCA494934006ARMC5c.1017A>C (p.Gly339=)
c.1302A>C (p.Gly434=)
c.525A>C (p.Gly175=)
c.213-208A>C
c.1113A>C (p.Gly371=)
16g.31462564A>GCA494934008ARMC5c.1017A>G (p.Gly339=)
c.1302A>G (p.Gly434=)
c.525A>G (p.Gly175=)
c.213-208A>G
c.1113A>G (p.Gly371=)
 gnomAD v4
16g.31462564A>TCA494934010ARMC5c.1017A>T (p.Gly339=)
c.1302A>T (p.Gly434=)
c.525A>T (p.Gly175=)
c.213-208A>T
c.1113A>T (p.Gly371=)
 dbSNP gnomAD v2
16g.31462565G>ACA395733297ARMC5c.1018G>A (p.Ala340Thr)
c.1303G>A (p.Ala435Thr)
c.526G>A (p.Ala176Thr)
c.213-207G>A
c.1114G>A (p.Ala372Thr)
16g.31462565G>CCA395733298ARMC5c.1018G>C (p.Ala340Pro)
c.1303G>C (p.Ala435Pro)
c.526G>C (p.Ala176Pro)
c.213-207G>C
c.1114G>C (p.Ala372Pro)
16g.31462565G>TCA395733299ARMC5c.1018G>T (p.Ala340Ser)
c.1303G>T (p.Ala435Ser)
c.526G>T (p.Ala176Ser)
c.213-207G>T
c.1114G>T (p.Ala372Ser)
 gnomAD v4
16g.31462566C>ACA395733300ARMC5c.1019C>A (p.Ala340Asp)
c.1304C>A (p.Ala435Asp)
c.527C>A (p.Ala176Asp)
c.213-206C>A
c.1115C>A (p.Ala372Asp)
16g.31462566C>GCA395733302ARMC5c.1019C>G (p.Ala340Gly)
c.1304C>G (p.Ala435Gly)
c.527C>G (p.Ala176Gly)
c.213-206C>G
c.1115C>G (p.Ala372Gly)
16g.31462566C>TCA395733301ARMC5c.1019C>T (p.Ala340Val)
c.1304C>T (p.Ala435Val)
c.527C>T (p.Ala176Val)
c.213-206C>T
c.1115C>T (p.Ala372Val)
16g.31462567T>ACA494934018ARMC5c.1020T>A (p.Ala340=)
c.1305T>A (p.Ala435=)
c.528T>A (p.Ala176=)
c.213-205T>A
c.1116T>A (p.Ala372=)
16g.31462567T>CCA494934019ARMC5c.1020T>C (p.Ala340=)
c.1305T>C (p.Ala435=)
c.528T>C (p.Ala176=)
c.213-205T>C
c.1116T>C (p.Ala372=)
16g.31462567T>GCA494934020ARMC5c.1020T>G (p.Ala340=)
c.1305T>G (p.Ala435=)
c.528T>G (p.Ala176=)
c.213-205T>G
c.1116T>G (p.Ala372=)
16g.31462568A=CA2217060686ARMC5c.1021A= (p.Ser341=)
c.1306A= (p.Ser436=)
c.529A= (p.Ser177=)
c.213-204A=
c.1117A= (p.Ser373=)
16g.31462568A>CCA395733303ARMC5c.1021A>C (p.Ser341Arg)
c.1306A>C (p.Ser436Arg)
c.529A>C (p.Ser177Arg)
c.213-204A>C
c.1117A>C (p.Ser373Arg)
16g.31462568A>GCA395733304ARMC5c.1021A>G (p.Ser341Gly)
c.1306A>G (p.Ser436Gly)
c.529A>G (p.Ser177Gly)
c.213-204A>G
c.1117A>G (p.Ser373Gly)
16g.31462568A>TCA8029594ARMC5c.1021A>T (p.Ser341Cys)
c.1306A>T (p.Ser436Cys)
c.529A>T (p.Ser177Cys)
c.213-204A>T
c.1117A>T (p.Ser373Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462569G>ACA395733305ARMC5c.1022G>A (p.Ser341Asn)
c.1307G>A (p.Ser436Asn)
c.530G>A (p.Ser177Asn)
c.213-203G>A
c.1118G>A (p.Ser373Asn)
16g.31462569G>CCA395733306ARMC5c.1022G>C (p.Ser341Thr)
c.1307G>C (p.Ser436Thr)
c.530G>C (p.Ser177Thr)
c.213-203G>C
c.1118G>C (p.Ser373Thr)
16g.31462569G>TCA395733307ARMC5c.1022G>T (p.Ser341Ile)
c.1307G>T (p.Ser436Ile)
c.530G>T (p.Ser177Ile)
c.213-203G>T
c.1118G>T (p.Ser373Ile)
 gnomAD v4
16g.31462570C>ACA395733308ARMC5c.1023C>A (p.Ser341Arg)
c.1308C>A (p.Ser436Arg)
c.531C>A (p.Ser177Arg)
c.213-202C>A
c.1119C>A (p.Ser373Arg)
 dbSNP
16g.31462570C=CA2217060687ARMC5c.1023C= (p.Ser341=)
c.1308C= (p.Ser436=)
c.531C= (p.Ser177=)
c.213-202C=
c.1119C= (p.Ser373=)
16g.31462570C>GCA395733309ARMC5c.1023C>G (p.Ser341Arg)
c.1308C>G (p.Ser436Arg)
c.531C>G (p.Ser177Arg)
c.213-202C>G
c.1119C>G (p.Ser373Arg)
16g.31462570C>TCA8029595ARMC5c.1023C>T (p.Ser341=)
c.1308C>T (p.Ser436=)
c.531C>T (p.Ser177=)
c.213-202C>T
c.1119C>T (p.Ser373=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462571C>ACA395733310ARMC5c.1024C>A (p.Pro342Thr)
c.1309C>A (p.Pro437Thr)
c.532C>A (p.Pro178Thr)
c.213-201C>A
c.1120C>A (p.Pro374Thr)
16g.31462571C=CA2217060688ARMC5c.1024C= (p.Pro342=)
c.1309C= (p.Pro437=)
c.532C= (p.Pro178=)
c.213-201C=
c.1120C= (p.Pro374=)
16g.31462571C>GCA395733311ARMC5c.1024C>G (p.Pro342Ala)
c.1309C>G (p.Pro437Ala)
c.532C>G (p.Pro178Ala)
c.213-201C>G
c.1120C>G (p.Pro374Ala)
16g.31462571C>TCA395733312ARMC5c.1024C>T (p.Pro342Ser)
c.1309C>T (p.Pro437Ser)
c.532C>T (p.Pro178Ser)
c.213-201C>T
c.1120C>T (p.Pro374Ser)
 dbSNP gnomAD v4
16g.31462572C>ACA395733314ARMC5c.1025C>A (p.Pro342Gln)
c.1310C>A (p.Pro437Gln)
c.533C>A (p.Pro178Gln)
c.213-200C>A
c.1121C>A (p.Pro374Gln)
 COSMIC COSMIC
16g.31462572C=CA2217060689ARMC5c.1025C= (p.Pro342=)
c.1310C= (p.Pro437=)
c.533C= (p.Pro178=)
c.213-200C=
c.1121C= (p.Pro374=)
16g.31462572C>GCA395733315ARMC5c.1025C>G (p.Pro342Arg)
c.1310C>G (p.Pro437Arg)
c.533C>G (p.Pro178Arg)
c.213-200C>G
c.1121C>G (p.Pro374Arg)
 dbSNP
16g.31462572C>TCA395733313ARMC5c.1025C>T (p.Pro342Leu)
c.1310C>T (p.Pro437Leu)
c.533C>T (p.Pro178Leu)
c.213-200C>T
c.1121C>T (p.Pro374Leu)
 dbSNP gnomAD v2
16g.31462573A=CA2217060690ARMC5c.1026A= (p.Pro342=)
c.1311A= (p.Pro437=)
c.534A= (p.Pro178=)
c.213-199A=
c.1122A= (p.Pro374=)
16g.31462573A>CCA494934031ARMC5c.1026A>C (p.Pro342=)
c.1311A>C (p.Pro437=)
c.534A>C (p.Pro178=)
c.213-199A>C
c.1122A>C (p.Pro374=)
16g.31462573A>GCA280639928ARMC5c.1026A>G (p.Pro342=)
c.1311A>G (p.Pro437=)
c.534A>G (p.Pro178=)
c.213-199A>G
c.1122A>G (p.Pro374=)
 dbSNP gnomAD v4
16g.31462573A>TCA494934032ARMC5c.1026A>T (p.Pro342=)
c.1311A>T (p.Pro437=)
c.534A>T (p.Pro178=)
c.213-199A>T
c.1122A>T (p.Pro374=)
16g.31462574A=CA2217060692ARMC5c.1027A= (p.Thr343=)
c.1312A= (p.Thr438=)
c.535A= (p.Thr179=)
c.213-198A=
c.1123A= (p.Thr375=)
16g.31462574A>CCA395733316ARMC5c.1027A>C (p.Thr343Pro)
c.1312A>C (p.Thr438Pro)
c.535A>C (p.Thr179Pro)
c.213-198A>C
c.1123A>C (p.Thr375Pro)
16g.31462574A>GCA395733317ARMC5c.1027A>G (p.Thr343Ala)
c.1312A>G (p.Thr438Ala)
c.535A>G (p.Thr179Ala)
c.213-198A>G
c.1123A>G (p.Thr375Ala)
 dbSNP gnomAD v2 gnomAD v4
16g.31462574A>TCA395733318ARMC5c.1027A>T (p.Thr343Ser)
c.1312A>T (p.Thr438Ser)
c.535A>T (p.Thr179Ser)
c.213-198A>T
c.1123A>T (p.Thr375Ser)
 gnomAD v4
16g.31462574_31462575delinsACCA2217060691ARMC5c.1027_1028delinsAC (p.Thr343=)
c.1312_1313delinsAC (p.Thr438=)
c.535_536delinsAC (p.Thr179=)
c.213-198_213-197delinsAC
c.1123_1124delinsAC (p.Thr375=)
16g.31462575C>ACA395733319ARMC5c.1028C>A (p.Thr343Asn)
c.1313C>A (p.Thr438Asn)
c.536C>A (p.Thr179Asn)
c.213-197C>A
c.1124C>A (p.Thr375Asn)
 dbSNP
16g.31462575C=CA2217060693ARMC5c.1028C= (p.Thr343=)
c.1313C= (p.Thr438=)
c.536C= (p.Thr179=)
c.213-197C=
c.1124C= (p.Thr375=)
16g.31462575C>GCA395733320ARMC5c.1028C>G (p.Thr343Ser)
c.1313C>G (p.Thr438Ser)
c.536C>G (p.Thr179Ser)
c.213-197C>G
c.1124C>G (p.Thr375Ser)
16g.31462575C>TCA395733321ARMC5c.1028C>T (p.Thr343Ile)
c.1313C>T (p.Thr438Ile)
c.536C>T (p.Thr179Ile)
c.213-197C>T
c.1124C>T (p.Thr375Ile)
 COSMIC COSMIC
16g.31462576delCA622173976ARMC5c.1029del (p.Ser344ProfsTer?)
c.1314del (p.Ser439ProfsTer?)
c.537del (p.Ser180ProfsTer?)
c.213-196del
c.1125del (p.Ser376ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
16g.31462576C>ACA494934039ARMC5c.1029C>A (p.Thr343=)
c.1314C>A (p.Thr438=)
c.537C>A (p.Thr179=)
c.213-196C>A
c.1125C>A (p.Thr375=)
16g.31462576C=CA2217060694ARMC5c.1029C= (p.Thr343=)
c.1314C= (p.Thr438=)
c.537C= (p.Thr179=)
c.213-196C=
c.1125C= (p.Thr375=)
16g.31462576C>GCA494934037ARMC5c.1029C>G (p.Thr343=)
c.1314C>G (p.Thr438=)
c.537C>G (p.Thr179=)
c.213-196C>G
c.1125C>G (p.Thr375=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462576C>TCA494934038ARMC5c.1029C>T (p.Thr343=)
c.1314C>T (p.Thr438=)
c.537C>T (p.Thr179=)
c.213-196C>T
c.1125C>T (p.Thr375=)
 dbSNP gnomAD v4
16g.31462577T>ACA395733324ARMC5c.1030T>A (p.Ser344Thr)
c.1315T>A (p.Ser439Thr)
c.538T>A (p.Ser180Thr)
c.213-195T>A
c.1126T>A (p.Ser376Thr)
16g.31462577T>CCA395733322ARMC5c.1030T>C (p.Ser344Pro)
c.1315T>C (p.Ser439Pro)
c.538T>C (p.Ser180Pro)
c.213-195T>C
c.1126T>C (p.Ser376Pro)
 COSMIC COSMIC
16g.31462577T>GCA395733323ARMC5c.1030T>G (p.Ser344Ala)
c.1315T>G (p.Ser439Ala)
c.538T>G (p.Ser180Ala)
c.213-195T>G
c.1126T>G (p.Ser376Ala)
16g.31462578C>ACA395733325ARMC5c.1031C>A (p.Ser344Tyr)
c.1316C>A (p.Ser439Tyr)
c.539C>A (p.Ser180Tyr)
c.213-194C>A
c.1127C>A (p.Ser376Tyr)
16g.31462578C=CA2217060695ARMC5c.1031C= (p.Ser344=)
c.1316C= (p.Ser439=)
c.539C= (p.Ser180=)
c.213-194C=
c.1127C= (p.Ser376=)
16g.31462578C>GCA395733326ARMC5c.1031C>G (p.Ser344Cys)
c.1316C>G (p.Ser439Cys)
c.539C>G (p.Ser180Cys)
c.213-194C>G
c.1127C>G (p.Ser376Cys)
 gnomAD v4
16g.31462578C>TCA8029596ARMC5c.1031C>T (p.Ser344Phe)
c.1316C>T (p.Ser439Phe)
c.539C>T (p.Ser180Phe)
c.213-194C>T
c.1127C>T (p.Ser376Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462579C>ACA494934044ARMC5c.1032C>A (p.Ser344=)
c.1317C>A (p.Ser439=)
c.540C>A (p.Ser180=)
c.213-193C>A
c.1128C>A (p.Ser376=)
16g.31462579C>GCA494934046ARMC5c.1032C>G (p.Ser344=)
c.1317C>G (p.Ser439=)
c.540C>G (p.Ser180=)
c.213-193C>G
c.1128C>G (p.Ser376=)
16g.31462579C>TCA494934048ARMC5c.1032C>T (p.Ser344=)
c.1317C>T (p.Ser439=)
c.540C>T (p.Ser180=)
c.213-193C>T
c.1128C>T (p.Ser376=)
16g.31462580C>ACA395733327ARMC5c.1033C>A (p.Gln345Lys)
c.1318C>A (p.Gln440Lys)
c.541C>A (p.Gln181Lys)
c.213-192C>A
c.1129C>A (p.Gln377Lys)
16g.31462580C>GCA395733328ARMC5c.1033C>G (p.Gln345Glu)
c.1318C>G (p.Gln440Glu)
c.541C>G (p.Gln181Glu)
c.213-192C>G
c.1129C>G (p.Gln377Glu)
16g.31462580C>TCA395733329ARMC5c.1033C>T (p.Gln345Ter)
c.1318C>T (p.Gln440Ter)
c.541C>T (p.Gln181Ter)
c.213-192C>T
c.1129C>T (p.Gln377Ter)
16g.31462581A>CCA395733330ARMC5c.1034A>C (p.Gln345Pro)
c.1319A>C (p.Gln440Pro)
c.542A>C (p.Gln181Pro)
c.213-191A>C
c.1130A>C (p.Gln377Pro)
 gnomAD v4
16g.31462581A>GCA395733332ARMC5c.1034A>G (p.Gln345Arg)
c.1319A>G (p.Gln440Arg)
c.542A>G (p.Gln181Arg)
c.213-191A>G
c.1130A>G (p.Gln377Arg)
16g.31462581A>TCA395733331ARMC5c.1034A>T (p.Gln345Leu)
c.1319A>T (p.Gln440Leu)
c.542A>T (p.Gln181Leu)
c.213-191A>T
c.1130A>T (p.Gln377Leu)
16g.31462582G>ACA494934054ARMC5c.1035G>A (p.Gln345=)
c.1320G>A (p.Gln440=)
c.543G>A (p.Gln181=)
c.213-190G>A
c.1131G>A (p.Gln377=)
 gnomAD v4
16g.31462582G>CCA395733333ARMC5c.1035G>C (p.Gln345His)
c.1320G>C (p.Gln440His)
c.543G>C (p.Gln181His)
c.213-190G>C
c.1131G>C (p.Gln377His)
16g.31462582G>TCA395733334ARMC5c.1035G>T (p.Gln345His)
c.1320G>T (p.Gln440His)
c.543G>T (p.Gln181His)
c.213-190G>T
c.1131G>T (p.Gln377His)
16g.31462583C>ACA395733335ARMC5c.1036C>A (p.Gln346Lys)
c.1321C>A (p.Gln441Lys)
c.544C>A (p.Gln182Lys)
c.213-189C>A
c.1132C>A (p.Gln378Lys)
 gnomAD v4 COSMIC COSMIC
16g.31462583C>GCA395733336ARMC5c.1036C>G (p.Gln346Glu)
c.1321C>G (p.Gln441Glu)
c.544C>G (p.Gln182Glu)
c.213-189C>G
c.1132C>G (p.Gln378Glu)
16g.31462583C>TCA395733337ARMC5c.1036C>T (p.Gln346Ter)
c.1321C>T (p.Gln441Ter)
c.544C>T (p.Gln182Ter)
c.213-189C>T
c.1132C>T (p.Gln378Ter)
16g.31462584A>CCA395733338ARMC5c.1037A>C (p.Gln346Pro)
c.1322A>C (p.Gln441Pro)
c.545A>C (p.Gln182Pro)
c.213-188A>C
c.1133A>C (p.Gln378Pro)
16g.31462584A>GCA395733339ARMC5c.1037A>G (p.Gln346Arg)
c.1322A>G (p.Gln441Arg)
c.545A>G (p.Gln182Arg)
c.213-188A>G
c.1133A>G (p.Gln378Arg)
16g.31462584A>TCA395733340ARMC5c.1037A>T (p.Gln346Leu)
c.1322A>T (p.Gln441Leu)
c.545A>T (p.Gln182Leu)
c.213-188A>T
c.1133A>T (p.Gln378Leu)
16g.31462585G>ACA494934057ARMC5c.1038G>A (p.Gln346=)
c.1323G>A (p.Gln441=)
c.546G>A (p.Gln182=)
c.213-187G>A
c.1134G>A (p.Gln378=)
 COSMIC COSMIC
16g.31462585G>CCA395733341ARMC5c.1038G>C (p.Gln346His)
c.1323G>C (p.Gln441His)
c.546G>C (p.Gln182His)
c.213-187G>C
c.1134G>C (p.Gln378His)
16g.31462585G>TCA395733342ARMC5c.1038G>T (p.Gln346His)
c.1323G>T (p.Gln441His)
c.546G>T (p.Gln182His)
c.213-187G>T
c.1134G>T (p.Gln378His)
16g.31462586C>ACA395733343ARMC5c.1039C>A (p.Pro347Thr)
c.1324C>A (p.Pro442Thr)
c.547C>A (p.Pro183Thr)
c.213-186C>A
c.1135C>A (p.Pro379Thr)
16g.31462586C=CA2217060696ARMC5c.1039C= (p.Pro347=)
c.1324C= (p.Pro442=)
c.547C= (p.Pro183=)
c.213-186C=
c.1135C= (p.Pro379=)
16g.31462586C>GCA395733344ARMC5c.1039C>G (p.Pro347Ala)
c.1324C>G (p.Pro442Ala)
c.547C>G (p.Pro183Ala)
c.213-186C>G
c.1135C>G (p.Pro379Ala)
16g.31462586C>TCA8029597ARMC5c.1039C>T (p.Pro347Ser)
c.1324C>T (p.Pro442Ser)
c.547C>T (p.Pro183Ser)
c.213-186C>T
c.1135C>T (p.Pro379Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462587C>ACA395733345ARMC5c.1040C>A (p.Pro347His)
c.1325C>A (p.Pro442His)
c.548C>A (p.Pro183His)
c.213-185C>A
c.1136C>A (p.Pro379His)
16g.31462587C>GCA395733347ARMC5c.1040C>G (p.Pro347Arg)
c.1325C>G (p.Pro442Arg)
c.548C>G (p.Pro183Arg)
c.213-185C>G
c.1136C>G (p.Pro379Arg)
16g.31462587C>TCA395733346ARMC5c.1040C>T (p.Pro347Leu)
c.1325C>T (p.Pro442Leu)
c.548C>T (p.Pro183Leu)
c.213-185C>T
c.1136C>T (p.Pro379Leu)
16g.31462588C>ACA494934065ARMC5c.1041C>A (p.Pro347=)
c.1326C>A (p.Pro442=)
c.549C>A (p.Pro183=)
c.213-184C>A
c.1137C>A (p.Pro379=)
16g.31462588C>GCA494934066ARMC5c.1041C>G (p.Pro347=)
c.1326C>G (p.Pro442=)
c.549C>G (p.Pro183=)
c.213-184C>G
c.1137C>G (p.Pro379=)
 gnomAD v4
16g.31462588C>TCA494934067ARMC5c.1041C>T (p.Pro347=)
c.1326C>T (p.Pro442=)
c.549C>T (p.Pro183=)
c.213-184C>T
c.1137C>T (p.Pro379=)
16g.31462589C>ACA395733348ARMC5c.1042C>A (p.Leu348Met)
c.1327C>A (p.Leu443Met)
c.550C>A (p.Leu184Met)
c.213-183C>A
c.1138C>A (p.Leu380Met)
16g.31462589C=CA2217060697ARMC5c.1042C= (p.Leu348=)
c.1327C= (p.Leu443=)
c.550C= (p.Leu184=)
c.213-183C=
c.1138C= (p.Leu380=)
16g.31462589C>GCA395733349ARMC5c.1042C>G (p.Leu348Val)
c.1327C>G (p.Leu443Val)
c.550C>G (p.Leu184Val)
c.213-183C>G
c.1138C>G (p.Leu380Val)
16g.31462589C>TCA494934070ARMC5c.1042C>T (p.Leu348=)
c.1327C>T (p.Leu443=)
c.550C>T (p.Leu184=)
c.213-183C>T
c.1138C>T (p.Leu380=)
 dbSNP gnomAD v2
16g.31462590T>ACA395733350ARMC5c.1043T>A (p.Leu348Gln)
c.1328T>A (p.Leu443Gln)
c.551T>A (p.Leu184Gln)
c.213-182T>A
c.1139T>A (p.Leu380Gln)
16g.31462590T>CCA395733351ARMC5c.1043T>C (p.Leu348Pro)
c.1328T>C (p.Leu443Pro)
c.551T>C (p.Leu184Pro)
c.213-182T>C
c.1139T>C (p.Leu380Pro)
 COSMIC COSMIC
16g.31462590T>GCA395733352ARMC5c.1043T>G (p.Leu348Arg)
c.1328T>G (p.Leu443Arg)
c.551T>G (p.Leu184Arg)
c.213-182T>G
c.1139T>G (p.Leu380Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.31462590T=CA2217060698ARMC5c.1043T= (p.Leu348=)
c.1328T= (p.Leu443=)
c.551T= (p.Leu184=)
c.213-182T=
c.1139T= (p.Leu380=)
16g.31462591G>ACA494934074ARMC5c.1044G>A (p.Leu348=)
c.1329G>A (p.Leu443=)
c.552G>A (p.Leu184=)
c.213-181G>A
c.1140G>A (p.Leu380=)
 COSMIC COSMIC
16g.31462591G>CCA494934072ARMC5c.1044G>C (p.Leu348=)
c.1329G>C (p.Leu443=)
c.552G>C (p.Leu184=)
c.213-181G>C
c.1140G>C (p.Leu380=)
16g.31462591G>TCA494934073ARMC5c.1044G>T (p.Leu348=)
c.1329G>T (p.Leu443=)
c.552G>T (p.Leu184=)
c.213-181G>T
c.1140G>T (p.Leu380=)
16g.31462592G>ACA395733353ARMC5c.1045G>A (p.Val349Met)
c.1330G>A (p.Val444Met)
c.553G>A (p.Val185Met)
c.213-180G>A
c.1141G>A (p.Val381Met)
 gnomAD v4 COSMIC COSMIC
16g.31462592G>CCA395733354ARMC5c.1045G>C (p.Val349Leu)
c.1330G>C (p.Val444Leu)
c.553G>C (p.Val185Leu)
c.213-180G>C
c.1141G>C (p.Val381Leu)
16g.31462592G>TCA395733355ARMC5c.1045G>T (p.Val349Leu)
c.1330G>T (p.Val444Leu)
c.553G>T (p.Val185Leu)
c.213-180G>T
c.1141G>T (p.Val381Leu)
 gnomAD v4
16g.31462593T>ACA395733356ARMC5c.1046T>A (p.Val349Glu)
c.1331T>A (p.Val444Glu)
c.554T>A (p.Val185Glu)
c.213-179T>A
c.1142T>A (p.Val381Glu)
16g.31462593T>CCA395733357ARMC5c.1046T>C (p.Val349Ala)
c.1331T>C (p.Val444Ala)
c.554T>C (p.Val185Ala)
c.213-179T>C
c.1142T>C (p.Val381Ala)
16g.31462593T>GCA395733358ARMC5c.1046T>G (p.Val349Gly)
c.1331T>G (p.Val444Gly)
c.554T>G (p.Val185Gly)
c.213-179T>G
c.1142T>G (p.Val381Gly)
16g.31462594G>ACA494934080ARMC5c.1047G>A (p.Val349=)
c.1332G>A (p.Val444=)
c.555G>A (p.Val185=)
c.213-178G>A
c.1143G>A (p.Val381=)
 gnomAD v4
16g.31462594G>CCA494934081ARMC5c.1047G>C (p.Val349=)
c.1332G>C (p.Val444=)
c.555G>C (p.Val185=)
c.213-178G>C
c.1143G>C (p.Val381=)
16g.31462594G>TCA494934082ARMC5c.1047G>T (p.Val349=)
c.1332G>T (p.Val444=)
c.555G>T (p.Val185=)
c.213-178G>T
c.1143G>T (p.Val381=)
16g.31462595C>ACA494934083ARMC5c.1048C>A (p.Arg350=)
c.1333C>A (p.Arg445=)
c.556C>A (p.Arg186=)
c.213-177C>A
c.1144C>A (p.Arg382=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462595C=CA2217060699ARMC5c.1048C= (p.Arg350=)
c.1333C= (p.Arg445=)
c.556C= (p.Arg186=)
c.213-177C=
c.1144C= (p.Arg382=)
16g.31462595C>GCA395733359ARMC5c.1048C>G (p.Arg350Gly)
c.1333C>G (p.Arg445Gly)
c.556C>G (p.Arg186Gly)
c.213-177C>G
c.1144C>G (p.Arg382Gly)
16g.31462595C>TCA8029598ARMC5c.1048C>T (p.Arg350Trp)
c.1333C>T (p.Arg445Trp)
c.556C>T (p.Arg186Trp)
c.213-177C>T
c.1144C>T (p.Arg382Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.31462596G>ACA395733362ARMC5c.1049G>A (p.Arg350Gln)
c.1334G>A (p.Arg445Gln)
c.557G>A (p.Arg186Gln)
c.213-176G>A
c.1145G>A (p.Arg382Gln)
 dbSNP gnomAD v4
16g.31462596G>CCA395733360ARMC5c.1049G>C (p.Arg350Pro)
c.1334G>C (p.Arg445Pro)
c.557G>C (p.Arg186Pro)
c.213-176G>C
c.1145G>C (p.Arg382Pro)
16g.31462596G=CA2217060700ARMC5c.1049G= (p.Arg350=)
c.1334G= (p.Arg445=)
c.557G= (p.Arg186=)
c.213-176G=
c.1145G= (p.Arg382=)
16g.31462596G>TCA395733361ARMC5c.1049G>T (p.Arg350Leu)
c.1334G>T (p.Arg445Leu)
c.557G>T (p.Arg186Leu)
c.213-176G>T
c.1145G>T (p.Arg382Leu)
16g.31462597G>ACA494934086ARMC5c.1050G>A (p.Arg350=)
c.1335G>A (p.Arg445=)
c.558G>A (p.Arg186=)
c.213-175G>A
c.1146G>A (p.Arg382=)
16g.31462597G>CCA494934087ARMC5c.1050G>C (p.Arg350=)
c.1335G>C (p.Arg445=)
c.558G>C (p.Arg186=)
c.213-175G>C
c.1146G>C (p.Arg382=)
16g.31462597G>TCA494934088ARMC5c.1050G>T (p.Arg350=)
c.1335G>T (p.Arg445=)
c.558G>T (p.Arg186=)
c.213-175G>T
c.1146G>T (p.Arg382=)
16g.31462598G>ACA395733363ARMC5c.1051G>A (p.Ala351Thr)
c.1336G>A (p.Ala446Thr)
c.559G>A (p.Ala187Thr)
c.213-174G>A
c.1147G>A (p.Ala383Thr)
 gnomAD v4
16g.31462598G>CCA395733364ARMC5c.1051G>C (p.Ala351Pro)
c.1336G>C (p.Ala446Pro)
c.559G>C (p.Ala187Pro)
c.213-174G>C
c.1147G>C (p.Ala383Pro)
16g.31462598G>TCA395733365ARMC5c.1051G>T (p.Ala351Ser)
c.1336G>T (p.Ala446Ser)
c.559G>T (p.Ala187Ser)
c.213-174G>T
c.1147G>T (p.Ala383Ser)
16g.31462599C>ACA395733366ARMC5c.1052C>A (p.Ala351Asp)
c.1337C>A (p.Ala446Asp)
c.560C>A (p.Ala187Asp)
c.213-173C>A
c.1148C>A (p.Ala383Asp)
16g.31462599C>GCA395733367ARMC5c.1052C>G (p.Ala351Gly)
c.1337C>G (p.Ala446Gly)
c.560C>G (p.Ala187Gly)
c.213-173C>G
c.1148C>G (p.Ala383Gly)
16g.31462599C>TCA395733368ARMC5c.1052C>T (p.Ala351Val)
c.1337C>T (p.Ala446Val)
c.560C>T (p.Ala187Val)
c.213-173C>T
c.1148C>T (p.Ala383Val)
 gnomAD v4
16g.31462600T>ACA494934093ARMC5c.1053T>A (p.Ala351=)
c.1338T>A (p.Ala446=)
c.561T>A (p.Ala187=)
c.213-172T>A
c.1149T>A (p.Ala383=)
16g.31462600T>CCA494934094ARMC5c.1053T>C (p.Ala351=)
c.1338T>C (p.Ala446=)
c.561T>C (p.Ala187=)
c.213-172T>C
c.1149T>C (p.Ala383=)
16g.31462600T>GCA494934095ARMC5c.1053T>G (p.Ala351=)
c.1338T>G (p.Ala446=)
c.561T>G (p.Ala187=)
c.213-172T>G
c.1149T>G (p.Ala383=)
16g.31462601G>ACA395733369ARMC5c.1054G>A (p.Val352Met)
c.1339G>A (p.Val447Met)
c.562G>A (p.Val188Met)
c.213-171G>A
c.1150G>A (p.Val384Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462601G>CCA395733370ARMC5c.1054G>C (p.Val352Leu)
c.1339G>C (p.Val447Leu)
c.562G>C (p.Val188Leu)
c.213-171G>C
c.1150G>C (p.Val384Leu)
16g.31462601G=CA2217060701ARMC5c.1054G= (p.Val352=)
c.1339G= (p.Val447=)
c.562G= (p.Val188=)
c.213-171G=
c.1150G= (p.Val384=)
16g.31462601G>TCA395733371ARMC5c.1054G>T (p.Val352Leu)
c.1339G>T (p.Val447Leu)
c.562G>T (p.Val188Leu)
c.213-171G>T
c.1150G>T (p.Val384Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.31462602T>ACA395733372ARMC5c.1055T>A (p.Val352Glu)
c.1340T>A (p.Val447Glu)
c.563T>A (p.Val188Glu)
c.213-170T>A
c.1151T>A (p.Val384Glu)
16g.31462602T>CCA395733373ARMC5c.1055T>C (p.Val352Ala)
c.1340T>C (p.Val447Ala)
c.563T>C (p.Val188Ala)
c.213-170T>C
c.1151T>C (p.Val384Ala)
 gnomAD v4
16g.31462602T>GCA395733374ARMC5c.1055T>G (p.Val352Gly)
c.1340T>G (p.Val447Gly)
c.563T>G (p.Val188Gly)
c.213-170T>G
c.1151T>G (p.Val384Gly)
16g.31462603G>ACA494934096ARMC5c.1056G>A (p.Val352=)
c.1341G>A (p.Val447=)
c.564G>A (p.Val188=)
c.213-169G>A
c.1152G>A (p.Val384=)
 gnomAD v4
16g.31462603G>CCA494934097ARMC5c.1056G>C (p.Val352=)
c.1341G>C (p.Val447=)
c.564G>C (p.Val188=)
c.213-169G>C
c.1152G>C (p.Val384=)
16g.31462603G>TCA494934098ARMC5c.1056G>T (p.Val352=)
c.1341G>T (p.Val447=)
c.564G>T (p.Val188=)
c.213-169G>T
c.1152G>T (p.Val384=)

Number of alleles fetched