Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
16g.31462604T>ACA395733375ARMC5c.1057T>A (p.Cys353Ser)
c.1342T>A (p.Cys448Ser)
c.565T>A (p.Cys189Ser)
c.213-168T>A
c.1153T>A (p.Cys385Ser)
16g.31462604T>CCA395733377ARMC5c.1057T>C (p.Cys353Arg)
c.1342T>C (p.Cys448Arg)
c.565T>C (p.Cys189Arg)
c.213-168T>C
c.1153T>C (p.Cys385Arg)
16g.31462604T>GCA395733376ARMC5c.1057T>G (p.Cys353Gly)
c.1342T>G (p.Cys448Gly)
c.565T>G (p.Cys189Gly)
c.213-168T>G
c.1153T>G (p.Cys385Gly)
16g.31462605G>ACA395733378ARMC5c.1058G>A (p.Cys353Tyr)
c.1343G>A (p.Cys448Tyr)
c.566G>A (p.Cys189Tyr)
c.213-167G>A
c.1154G>A (p.Cys385Tyr)
 dbSNP
16g.31462605G>CCA395733379ARMC5c.1058G>C (p.Cys353Ser)
c.1343G>C (p.Cys448Ser)
c.566G>C (p.Cys189Ser)
c.213-167G>C
c.1154G>C (p.Cys385Ser)
16g.31462605G=CA2217060702ARMC5c.1058G= (p.Cys353=)
c.1343G= (p.Cys448=)
c.566G= (p.Cys189=)
c.213-167G=
c.1154G= (p.Cys385=)
16g.31462605G>TCA395733380ARMC5c.1058G>T (p.Cys353Phe)
c.1343G>T (p.Cys448Phe)
c.566G>T (p.Cys189Phe)
c.213-167G>T
c.1154G>T (p.Cys385Phe)
16g.31462606C>ACA395733381ARMC5c.1059C>A (p.Cys353Ter)
c.1344C>A (p.Cys448Ter)
c.567C>A (p.Cys189Ter)
c.213-166C>A
c.1155C>A (p.Cys385Ter)
16g.31462606C=CA2217060703ARMC5c.1059C= (p.Cys353=)
c.1344C= (p.Cys448=)
c.567C= (p.Cys189=)
c.213-166C=
c.1155C= (p.Cys385=)
16g.31462606C>GCA395733382ARMC5c.1059C>G (p.Cys353Trp)
c.1344C>G (p.Cys448Trp)
c.567C>G (p.Cys189Trp)
c.213-166C>G
c.1155C>G (p.Cys385Trp)
16g.31462606C>TCA494934099ARMC5c.1059C>T (p.Cys353=)
c.1344C>T (p.Cys448=)
c.567C>T (p.Cys189=)
c.213-166C>T
c.1155C>T (p.Cys385=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462607C>ACA395733383ARMC5c.1060C>A (p.Leu354Ile)
c.1345C>A (p.Leu449Ile)
c.568C>A (p.Leu190Ile)
c.213-165C>A
c.1156C>A (p.Leu386Ile)
16g.31462607C>GCA395733384ARMC5c.1060C>G (p.Leu354Val)
c.1345C>G (p.Leu449Val)
c.568C>G (p.Leu190Val)
c.213-165C>G
c.1156C>G (p.Leu386Val)
16g.31462607C>TCA395733385ARMC5c.1060C>T (p.Leu354Phe)
c.1345C>T (p.Leu449Phe)
c.568C>T (p.Leu190Phe)
c.213-165C>T
c.1156C>T (p.Leu386Phe)
16g.31462608T>ACA395733386ARMC5c.1061T>A (p.Leu354His)
c.1346T>A (p.Leu449His)
c.569T>A (p.Leu190His)
c.213-164T>A
c.1157T>A (p.Leu386His)
16g.31462608T>CCA395733387ARMC5c.1061T>C (p.Leu354Pro)
c.1346T>C (p.Leu449Pro)
c.569T>C (p.Leu190Pro)
c.213-164T>C
c.1157T>C (p.Leu386Pro)
16g.31462608T>GCA395733388ARMC5c.1061T>G (p.Leu354Arg)
c.1346T>G (p.Leu449Arg)
c.569T>G (p.Leu190Arg)
c.213-164T>G
c.1157T>G (p.Leu386Arg)
16g.31462609C>ACA494934100ARMC5c.1062C>A (p.Leu354=)
c.1347C>A (p.Leu449=)
c.570C>A (p.Leu190=)
c.213-163C>A
c.1158C>A (p.Leu386=)
16g.31462609C>GCA494934101ARMC5c.1062C>G (p.Leu354=)
c.1347C>G (p.Leu449=)
c.570C>G (p.Leu190=)
c.213-163C>G
c.1158C>G (p.Leu386=)
16g.31462609C>TCA494934102ARMC5c.1062C>T (p.Leu354=)
c.1347C>T (p.Leu449=)
c.570C>T (p.Leu190=)
c.213-163C>T
c.1158C>T (p.Leu386=)
 gnomAD v4
16g.31462610C>ACA395733389ARMC5c.1063C>A (p.Leu355Ile)
c.1348C>A (p.Leu450Ile)
c.571C>A (p.Leu191Ile)
c.213-162C>A
c.1159C>A (p.Leu387Ile)
16g.31462610C>GCA395733390ARMC5c.1063C>G (p.Leu355Val)
c.1348C>G (p.Leu450Val)
c.571C>G (p.Leu191Val)
c.213-162C>G
c.1159C>G (p.Leu387Val)
16g.31462610C>TCA494934103ARMC5c.1063C>T (p.Leu355=)
c.1348C>T (p.Leu450=)
c.571C>T (p.Leu191=)
c.213-162C>T
c.1159C>T (p.Leu387=)
16g.31462611T>ACA395733393ARMC5c.1064T>A (p.Leu355Gln)
c.1349T>A (p.Leu450Gln)
c.572T>A (p.Leu191Gln)
c.213-161T>A
c.1160T>A (p.Leu387Gln)
16g.31462611T>CCA395733392ARMC5c.1064T>C (p.Leu355Pro)
c.1349T>C (p.Leu450Pro)
c.572T>C (p.Leu191Pro)
c.213-161T>C
c.1160T>C (p.Leu387Pro)
16g.31462611T>GCA395733391ARMC5c.1064T>G (p.Leu355Arg)
c.1349T>G (p.Leu450Arg)
c.572T>G (p.Leu191Arg)
c.213-161T>G
c.1160T>G (p.Leu387Arg)
16g.31462612A=CA2217060704ARMC5c.1065A= (p.Leu355=)
c.1350A= (p.Leu450=)
c.573A= (p.Leu191=)
c.213-160A=
c.1161A= (p.Leu387=)
16g.31462612A>CCA494934106ARMC5c.1065A>C (p.Leu355=)
c.1350A>C (p.Leu450=)
c.573A>C (p.Leu191=)
c.213-160A>C
c.1161A>C (p.Leu387=)
16g.31462612A>GCA494934105ARMC5c.1065A>G (p.Leu355=)
c.1350A>G (p.Leu450=)
c.573A>G (p.Leu191=)
c.213-160A>G
c.1161A>G (p.Leu387=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462612A>TCA494934104ARMC5c.1065A>T (p.Leu355=)
c.1350A>T (p.Leu450=)
c.573A>T (p.Leu191=)
c.213-160A>T
c.1161A>T (p.Leu387=)
16g.31462613T>ACA395733394ARMC5c.1066T>A (p.Cys356Ser)
c.1351T>A (p.Cys451Ser)
c.574T>A (p.Cys192Ser)
c.213-159T>A
c.1162T>A (p.Cys388Ser)
16g.31462613T>CCA395733395ARMC5c.1066T>C (p.Cys356Arg)
c.1351T>C (p.Cys451Arg)
c.574T>C (p.Cys192Arg)
c.213-159T>C
c.1162T>C (p.Cys388Arg)
16g.31462613T>GCA395733396ARMC5c.1066T>G (p.Cys356Gly)
c.1351T>G (p.Cys451Gly)
c.574T>G (p.Cys192Gly)
c.213-159T>G
c.1162T>G (p.Cys388Gly)
16g.31462614G>ACA395733397ARMC5c.1067G>A (p.Cys356Tyr)
c.1352G>A (p.Cys451Tyr)
c.575G>A (p.Cys192Tyr)
c.213-158G>A
c.1163G>A (p.Cys388Tyr)
 gnomAD v4
16g.31462614G>CCA395733398ARMC5c.1067G>C (p.Cys356Ser)
c.1352G>C (p.Cys451Ser)
c.575G>C (p.Cys192Ser)
c.213-158G>C
c.1163G>C (p.Cys388Ser)
16g.31462614G>TCA395733399ARMC5c.1067G>T (p.Cys356Phe)
c.1352G>T (p.Cys451Phe)
c.575G>T (p.Cys192Phe)
c.213-158G>T
c.1163G>T (p.Cys388Phe)
16g.31462615T>ACA395733400ARMC5c.1068T>A (p.Cys356Ter)
c.1353T>A (p.Cys451Ter)
c.576T>A (p.Cys192Ter)
c.213-157T>A
c.1164T>A (p.Cys388Ter)
16g.31462615T>CCA494934107ARMC5c.1068T>C (p.Cys356=)
c.1353T>C (p.Cys451=)
c.576T>C (p.Cys192=)
c.213-157T>C
c.1164T>C (p.Cys388=)
 gnomAD v4
16g.31462615T>GCA395733401ARMC5c.1068T>G (p.Cys356Trp)
c.1353T>G (p.Cys451Trp)
c.576T>G (p.Cys192Trp)
c.213-157T>G
c.1164T>G (p.Cys388Trp)
16g.31462616C>ACA395733402ARMC5c.1069C>A (p.Arg357Ser)
c.1354C>A (p.Arg452Ser)
c.577C>A (p.Arg193Ser)
c.213-156C>A
c.1165C>A (p.Arg389Ser)
 gnomAD v4
16g.31462616C=CA2217060705ARMC5c.1069C= (p.Arg357=)
c.1354C= (p.Arg452=)
c.577C= (p.Arg193=)
c.213-156C=
c.1165C= (p.Arg389=)
16g.31462616C>GCA395733403ARMC5c.1069C>G (p.Arg357Gly)
c.1354C>G (p.Arg452Gly)
c.577C>G (p.Arg193Gly)
c.213-156C>G
c.1165C>G (p.Arg389Gly)
 gnomAD v4
16g.31462616C>TCA8029599ARMC5c.1069C>T (p.Arg357Cys)
c.1354C>T (p.Arg452Cys)
c.577C>T (p.Arg193Cys)
c.213-156C>T
c.1165C>T (p.Arg389Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462617G>ACA8029600ARMC5c.1070G>A (p.Arg357His)
c.1355G>A (p.Arg452His)
c.578G>A (p.Arg193His)
c.213-155G>A
c.1166G>A (p.Arg389His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462617G>CCA395733404ARMC5c.1070G>C (p.Arg357Pro)
c.1355G>C (p.Arg452Pro)
c.578G>C (p.Arg193Pro)
c.213-155G>C
c.1166G>C (p.Arg389Pro)
16g.31462617G=CA2217060706ARMC5c.1070G= (p.Arg357=)
c.1355G= (p.Arg452=)
c.578G= (p.Arg193=)
c.213-155G=
c.1166G= (p.Arg389=)
16g.31462617G>TCA395733405ARMC5c.1070G>T (p.Arg357Leu)
c.1355G>T (p.Arg452Leu)
c.578G>T (p.Arg193Leu)
c.213-155G>T
c.1166G>T (p.Arg389Leu)
16g.31462617dupCA622173977ARMC5c.1070dup (p.Glu358Ter)
c.1355dup (p.Glu453Ter)
c.578dup (p.Glu194Ter)
c.213-155dup
c.1166dup (p.Glu390Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.31462618T>ACA494934108ARMC5c.1071T>A (p.Arg357=)
c.1356T>A (p.Arg452=)
c.579T>A (p.Arg193=)
c.213-154T>A
c.1167T>A (p.Arg389=)
16g.31462618T>CCA494934110ARMC5c.1071T>C (p.Arg357=)
c.1356T>C (p.Arg452=)
c.579T>C (p.Arg193=)
c.213-154T>C
c.1167T>C (p.Arg389=)
 dbSNP gnomAD v2 gnomAD v4
16g.31462618T>GCA494934109ARMC5c.1071T>G (p.Arg357=)
c.1356T>G (p.Arg452=)
c.579T>G (p.Arg193=)
c.213-154T>G
c.1167T>G (p.Arg389=)
16g.31462618T=CA2217060707ARMC5c.1071T= (p.Arg357=)
c.1356T= (p.Arg452=)
c.579T= (p.Arg193=)
c.213-154T=
c.1167T= (p.Arg389=)
16g.31462619G>ACA395733407ARMC5c.1072G>A (p.Glu358Lys)
c.1357G>A (p.Glu453Lys)
c.580G>A (p.Glu194Lys)
c.213-153G>A
c.1168G>A (p.Glu390Lys)
16g.31462619G>CCA395733408ARMC5c.1072G>C (p.Glu358Gln)
c.1357G>C (p.Glu453Gln)
c.580G>C (p.Glu194Gln)
c.213-153G>C
c.1168G>C (p.Glu390Gln)
16g.31462619G>TCA395733406ARMC5c.1072G>T (p.Glu358Ter)
c.1357G>T (p.Glu453Ter)
c.580G>T (p.Glu194Ter)
c.213-153G>T
c.1168G>T (p.Glu390Ter)
 COSMIC COSMIC
16g.31462620A>CCA395733409ARMC5c.1073A>C (p.Glu358Ala)
c.1358A>C (p.Glu453Ala)
c.581A>C (p.Glu194Ala)
c.213-152A>C
c.1169A>C (p.Glu390Ala)
16g.31462620A>GCA395733410ARMC5c.1073A>G (p.Glu358Gly)
c.1358A>G (p.Glu453Gly)
c.581A>G (p.Glu194Gly)
c.213-152A>G
c.1169A>G (p.Glu390Gly)
16g.31462620A>TCA395733411ARMC5c.1073A>T (p.Glu358Val)
c.1358A>T (p.Glu453Val)
c.581A>T (p.Glu194Val)
c.213-152A>T
c.1169A>T (p.Glu390Val)
16g.31462621G>ACA8029601ARMC5c.1074G>A (p.Glu358=)
c.1359G>A (p.Glu453=)
c.582G>A (p.Glu194=)
c.213-151G>A
c.1170G>A (p.Glu390=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.31462621G>CCA395733412ARMC5c.1074G>C (p.Glu358Asp)
c.1359G>C (p.Glu453Asp)
c.582G>C (p.Glu194Asp)
c.213-151G>C
c.1170G>C (p.Glu390Asp)
16g.31462621G=CA2217060708ARMC5c.1074G= (p.Glu358=)
c.1359G= (p.Glu453=)
c.582G= (p.Glu194=)
c.213-151G=
c.1170G= (p.Glu390=)
16g.31462621G>TCA395733413ARMC5c.1074G>T (p.Glu358Asp)
c.1359G>T (p.Glu453Asp)
c.582G>T (p.Glu194Asp)
c.213-151G>T
c.1170G>T (p.Glu390Asp)
 gnomAD v4
16g.31462622G>ACA395733414ARMC5c.1075G>A (p.Ala359Thr)
c.1360G>A (p.Ala454Thr)
c.583G>A (p.Ala195Thr)
c.213-150G>A
c.1171G>A (p.Ala391Thr)
 gnomAD v4
16g.31462622G>CCA395733415ARMC5c.1075G>C (p.Ala359Pro)
c.1360G>C (p.Ala454Pro)
c.583G>C (p.Ala195Pro)
c.213-150G>C
c.1171G>C (p.Ala391Pro)
16g.31462622G>TCA395733416ARMC5c.1075G>T (p.Ala359Ser)
c.1360G>T (p.Ala454Ser)
c.583G>T (p.Ala195Ser)
c.213-150G>T
c.1171G>T (p.Ala391Ser)
16g.31462623C>ACA395733417ARMC5c.1076C>A (p.Ala359Asp)
c.1361C>A (p.Ala454Asp)
c.584C>A (p.Ala195Asp)
c.213-149C>A
c.1172C>A (p.Ala391Asp)
16g.31462623C>GCA395733418ARMC5c.1076C>G (p.Ala359Gly)
c.1361C>G (p.Ala454Gly)
c.584C>G (p.Ala195Gly)
c.213-149C>G
c.1172C>G (p.Ala391Gly)
16g.31462623C>TCA395733419ARMC5c.1076C>T (p.Ala359Val)
c.1361C>T (p.Ala454Val)
c.584C>T (p.Ala195Val)
c.213-149C>T
c.1172C>T (p.Ala391Val)
16g.31462624C>ACA494934111ARMC5c.1077C>A (p.Ala359=)
c.1362C>A (p.Ala454=)
c.585C>A (p.Ala195=)
c.213-148C>A
c.1173C>A (p.Ala391=)
16g.31462624C>GCA494934112ARMC5c.1077C>G (p.Ala359=)
c.1362C>G (p.Ala454=)
c.585C>G (p.Ala195=)
c.213-148C>G
c.1173C>G (p.Ala391=)
16g.31462624C>TCA494934113ARMC5c.1077C>T (p.Ala359=)
c.1362C>T (p.Ala454=)
c.585C>T (p.Ala195=)
c.213-148C>T
c.1173C>T (p.Ala391=)
16g.31462625A=CA2217060709ARMC5c.1078A= (p.Ile360=)
c.1363A= (p.Ile455=)
c.586A= (p.Ile196=)
c.213-147A=
c.1174A= (p.Ile392=)
16g.31462625A>CCA395733422ARMC5c.1078A>C (p.Ile360Leu)
c.1363A>C (p.Ile455Leu)
c.586A>C (p.Ile196Leu)
c.213-147A>C
c.1174A>C (p.Ile392Leu)
16g.31462625A>GCA395733420ARMC5c.1078A>G (p.Ile360Val)
c.1363A>G (p.Ile455Val)
c.586A>G (p.Ile196Val)
c.213-147A>G
c.1174A>G (p.Ile392Val)
 dbSNP gnomAD v4
16g.31462625A>TCA395733421ARMC5c.1078A>T (p.Ile360Phe)
c.1363A>T (p.Ile455Phe)
c.586A>T (p.Ile196Phe)
c.213-147A>T
c.1174A>T (p.Ile392Phe)
16g.31462626T>ACA395733423ARMC5c.1079T>A (p.Ile360Asn)
c.1364T>A (p.Ile455Asn)
c.587T>A (p.Ile196Asn)
c.213-146T>A
c.1175T>A (p.Ile392Asn)
16g.31462626T>CCA395733424ARMC5c.1079T>C (p.Ile360Thr)
c.1364T>C (p.Ile455Thr)
c.587T>C (p.Ile196Thr)
c.213-146T>C
c.1175T>C (p.Ile392Thr)
16g.31462626T>GCA395733425ARMC5c.1079T>G (p.Ile360Ser)
c.1364T>G (p.Ile455Ser)
c.587T>G (p.Ile196Ser)
c.213-146T>G
c.1175T>G (p.Ile392Ser)
16g.31462627C>ACA494934115ARMC5c.1080C>A (p.Ile360=)
c.1365C>A (p.Ile455=)
c.588C>A (p.Ile196=)
c.213-145C>A
c.1176C>A (p.Ile392=)
16g.31462627C>GCA395733426ARMC5c.1080C>G (p.Ile360Met)
c.1365C>G (p.Ile455Met)
c.588C>G (p.Ile196Met)
c.213-145C>G
c.1176C>G (p.Ile392Met)
 COSMIC COSMIC
16g.31462627C>TCA494934114ARMC5c.1080C>T (p.Ile360=)
c.1365C>T (p.Ile455=)
c.588C>T (p.Ile196=)
c.213-145C>T
c.1176C>T (p.Ile392=)
16g.31462628A>CCA395733427ARMC5c.1081A>C (p.Asn361His)
c.1366A>C (p.Asn456His)
c.589A>C (p.Asn197His)
c.213-144A>C
c.1177A>C (p.Asn393His)
16g.31462628A>GCA395733428ARMC5c.1081A>G (p.Asn361Asp)
c.1366A>G (p.Asn456Asp)
c.589A>G (p.Asn197Asp)
c.213-144A>G
c.1177A>G (p.Asn393Asp)
16g.31462628A>TCA395733429ARMC5c.1081A>T (p.Asn361Tyr)
c.1366A>T (p.Asn456Tyr)
c.589A>T (p.Asn197Tyr)
c.213-144A>T
c.1177A>T (p.Asn393Tyr)
16g.31462629A>CCA395733430ARMC5c.1082A>C (p.Asn361Thr)
c.1367A>C (p.Asn456Thr)
c.590A>C (p.Asn197Thr)
c.213-143A>C
c.1178A>C (p.Asn393Thr)
16g.31462629A>GCA395733431ARMC5c.1082A>G (p.Asn361Ser)
c.1367A>G (p.Asn456Ser)
c.590A>G (p.Asn197Ser)
c.213-143A>G
c.1178A>G (p.Asn393Ser)
16g.31462629A>TCA395733432ARMC5c.1082A>T (p.Asn361Ile)
c.1367A>T (p.Asn456Ile)
c.590A>T (p.Asn197Ile)
c.213-143A>T
c.1178A>T (p.Asn393Ile)
16g.31462630C>ACA395733433ARMC5c.1083C>A (p.Asn361Lys)
c.1368C>A (p.Asn456Lys)
c.591C>A (p.Asn197Lys)
c.213-142C>A
c.1179C>A (p.Asn393Lys)
16g.31462630C=CA2217060710ARMC5c.1083C= (p.Asn361=)
c.1368C= (p.Asn456=)
c.591C= (p.Asn197=)
c.213-142C=
c.1179C= (p.Asn393=)
16g.31462630C>GCA395733434ARMC5c.1083C>G (p.Asn361Lys)
c.1368C>G (p.Asn456Lys)
c.591C>G (p.Asn197Lys)
c.213-142C>G
c.1179C>G (p.Asn393Lys)
16g.31462630C>TCA494934116ARMC5c.1083C>T (p.Asn361=)
c.1368C>T (p.Asn456=)
c.591C>T (p.Asn197=)
c.213-142C>T
c.1179C>T (p.Asn393=)
 dbSNP gnomAD v2
16g.31462631C>ACA494934117ARMC5c.1084C>A (p.Arg362=)
c.1369C>A (p.Arg457=)
c.592C>A (p.Arg198=)
c.213-141C>A
c.1180C>A (p.Arg394=)
16g.31462631C=CA2217060711ARMC5c.1084C= (p.Arg362=)
c.1369C= (p.Arg457=)
c.592C= (p.Arg198=)
c.213-141C=
c.1180C= (p.Arg394=)
16g.31462631C>GCA395733436ARMC5c.1084C>G (p.Arg362Gly)
c.1369C>G (p.Arg457Gly)
c.592C>G (p.Arg198Gly)
c.213-141C>G
c.1180C>G (p.Arg394Gly)
16g.31462631C>TCA395733435ARMC5c.1084C>T (p.Arg362Trp)
c.1369C>T (p.Arg457Trp)
c.592C>T (p.Arg198Trp)
c.213-141C>T
c.1180C>T (p.Arg394Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462632G>ACA395733437ARMC5c.1085G>A (p.Arg362Gln)
c.1370G>A (p.Arg457Gln)
c.593G>A (p.Arg198Gln)
c.213-140G>A
c.1181G>A (p.Arg394Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.31462632G>CCA395733439ARMC5c.1085G>C (p.Arg362Pro)
c.1370G>C (p.Arg457Pro)
c.593G>C (p.Arg198Pro)
c.213-140G>C
c.1181G>C (p.Arg394Pro)
 gnomAD v4 COSMIC COSMIC
16g.31462632G=CA2217060712ARMC5c.1085G= (p.Arg362=)
c.1370G= (p.Arg457=)
c.593G= (p.Arg198=)
c.213-140G=
c.1181G= (p.Arg394=)
16g.31462632G>TCA395733438ARMC5c.1085G>T (p.Arg362Leu)
c.1370G>T (p.Arg457Leu)
c.593G>T (p.Arg198Leu)
c.213-140G>T
c.1181G>T (p.Arg394Leu)
16g.31462633G>ACA494934118ARMC5c.1086G>A (p.Arg362=)
c.1371G>A (p.Arg457=)
c.594G>A (p.Arg198=)
c.213-139G>A
c.1182G>A (p.Arg394=)
16g.31462633G>CCA494934119ARMC5c.1086G>C (p.Arg362=)
c.1371G>C (p.Arg457=)
c.594G>C (p.Arg198=)
c.213-139G>C
c.1182G>C (p.Arg394=)
16g.31462633G>TCA494934120ARMC5c.1086G>T (p.Arg362=)
c.1371G>T (p.Arg457=)
c.594G>T (p.Arg198=)
c.213-139G>T
c.1182G>T (p.Arg394=)
16g.31462634G>ACA395733440ARMC5c.1087G>A (p.Ala363Thr)
c.1372G>A (p.Ala458Thr)
c.595G>A (p.Ala199Thr)
c.213-138G>A
c.1183G>A (p.Ala395Thr)
16g.31462634G>CCA395733442ARMC5c.1087G>C (p.Ala363Pro)
c.1372G>C (p.Ala458Pro)
c.595G>C (p.Ala199Pro)
c.213-138G>C
c.1183G>C (p.Ala395Pro)
16g.31462634G>TCA395733441ARMC5c.1087G>T (p.Ala363Ser)
c.1372G>T (p.Ala458Ser)
c.595G>T (p.Ala199Ser)
c.213-138G>T
c.1183G>T (p.Ala395Ser)
16g.31462635C>ACA395733443ARMC5c.1088C>A (p.Ala363Asp)
c.1373C>A (p.Ala458Asp)
c.596C>A (p.Ala199Asp)
c.213-137C>A
c.1184C>A (p.Ala395Asp)
16g.31462635C=CA2217060713ARMC5c.1088C= (p.Ala363=)
c.1373C= (p.Ala458=)
c.596C= (p.Ala199=)
c.213-137C=
c.1184C= (p.Ala395=)
16g.31462635C>GCA395733445ARMC5c.1088C>G (p.Ala363Gly)
c.1373C>G (p.Ala458Gly)
c.596C>G (p.Ala199Gly)
c.213-137C>G
c.1184C>G (p.Ala395Gly)
16g.31462635C>TCA395733444ARMC5c.1088C>T (p.Ala363Val)
c.1373C>T (p.Ala458Val)
c.596C>T (p.Ala199Val)
c.213-137C>T
c.1184C>T (p.Ala395Val)
16g.31462636C>ACA494934121ARMC5c.1089C>A (p.Ala363=)
c.1374C>A (p.Ala458=)
c.597C>A (p.Ala199=)
c.213-136C>A
c.1185C>A (p.Ala395=)
16g.31462636C>GCA494934122ARMC5c.1089C>G (p.Ala363=)
c.1374C>G (p.Ala458=)
c.597C>G (p.Ala199=)
c.213-136C>G
c.1185C>G (p.Ala395=)
16g.31462636C>TCA494934123ARMC5c.1089C>T (p.Ala363=)
c.1374C>T (p.Ala458=)
c.597C>T (p.Ala199=)
c.213-136C>T
c.1185C>T (p.Ala395=)
 gnomAD v4
16g.31462637_31462643dupCA622173978ARMC5c.1090_1096dup (p.Arg366ProfsTer?)
c.1375_1381dup (p.Arg461ProfsTer?)
c.598_604dup (p.Arg202ProfsTer?)
c.213-135_213-129dup
c.1186_1192dup (p.Arg398ProfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.31462637C>ACA494934124ARMC5c.1090C>A (p.Arg364=)
c.1375C>A (p.Arg459=)
c.598C>A (p.Arg200=)
c.213-135C>A
c.1186C>A (p.Arg396=)
16g.31462637C=CA2217060714ARMC5c.1090C= (p.Arg364=)
c.1375C= (p.Arg459=)
c.598C= (p.Arg200=)
c.213-135C=
c.1186C= (p.Arg396=)
16g.31462637C>GCA395733446ARMC5c.1090C>G (p.Arg364Gly)
c.1375C>G (p.Arg459Gly)
c.598C>G (p.Arg200Gly)
c.213-135C>G
c.1186C>G (p.Arg396Gly)
16g.31462637C>TCA395733447ARMC5c.1090C>T (p.Arg364Ter)
c.1375C>T (p.Arg459Ter)
c.598C>T (p.Arg200Ter)
c.213-135C>T
c.1186C>T (p.Arg396Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.31462638G>ACA8029602ARMC5c.1091G>A (p.Arg364Gln)
c.1376G>A (p.Arg459Gln)
c.599G>A (p.Arg200Gln)
c.213-134G>A
c.1187G>A (p.Arg396Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462638G>CCA395733449ARMC5c.1091G>C (p.Arg364Pro)
c.1376G>C (p.Arg459Pro)
c.599G>C (p.Arg200Pro)
c.213-134G>C
c.1187G>C (p.Arg396Pro)
16g.31462638G=CA2217060715ARMC5c.1091G= (p.Arg364=)
c.1376G= (p.Arg459=)
c.599G= (p.Arg200=)
c.213-134G=
c.1187G= (p.Arg396=)
16g.31462638G>TCA395733448ARMC5c.1091G>T (p.Arg364Leu)
c.1376G>T (p.Arg459Leu)
c.599G>T (p.Arg200Leu)
c.213-134G>T
c.1187G>T (p.Arg396Leu)
 dbSNP
16g.31462639A>CCA494934125ARMC5c.1092A>C (p.Arg364=)
c.1377A>C (p.Arg459=)
c.600A>C (p.Arg200=)
c.213-133A>C
c.1188A>C (p.Arg396=)
16g.31462639A>GCA494934127ARMC5c.1092A>G (p.Arg364=)
c.1377A>G (p.Arg459=)
c.600A>G (p.Arg200=)
c.213-133A>G
c.1188A>G (p.Arg396=)
 gnomAD v4
16g.31462639A>TCA494934126ARMC5c.1092A>T (p.Arg364=)
c.1377A>T (p.Arg459=)
c.600A>T (p.Arg200=)
c.213-133A>T
c.1188A>T (p.Arg396=)
16g.31462640C>ACA395733450ARMC5c.1093C>A (p.Leu365Met)
c.1378C>A (p.Leu460Met)
c.601C>A (p.Leu201Met)
c.213-132C>A
c.1189C>A (p.Leu397Met)
16g.31462640C=CA2217060716ARMC5c.1093C= (p.Leu365=)
c.1378C= (p.Leu460=)
c.601C= (p.Leu201=)
c.213-132C=
c.1189C= (p.Leu397=)
16g.31462640C>GCA395733451ARMC5c.1093C>G (p.Leu365Val)
c.1378C>G (p.Leu460Val)
c.601C>G (p.Leu201Val)
c.213-132C>G
c.1189C>G (p.Leu397Val)
16g.31462640C>TCA8029603ARMC5c.1093C>T (p.Leu365=)
c.1378C>T (p.Leu460=)
c.601C>T (p.Leu201=)
c.213-132C>T
c.1189C>T (p.Leu397=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462641T>ACA395733452ARMC5c.1094T>A (p.Leu365Gln)
c.1379T>A (p.Leu460Gln)
c.602T>A (p.Leu201Gln)
c.213-131T>A
c.1190T>A (p.Leu397Gln)
16g.31462641T>CCA170623ARMC5c.1094T>C (p.Leu365Pro)
c.1379T>C (p.Leu460Pro)
c.602T>C (p.Leu201Pro)
c.213-131T>C
c.1190T>C (p.Leu397Pro)
 ClinVar dbSNP
16g.31462641T>GCA395733453ARMC5c.1094T>G (p.Leu365Arg)
c.1379T>G (p.Leu460Arg)
c.602T>G (p.Leu201Arg)
c.213-131T>G
c.1190T>G (p.Leu397Arg)
16g.31462641T=CA2217060717ARMC5c.1094T= (p.Leu365=)
c.1379T= (p.Leu460=)
c.602T= (p.Leu201=)
c.213-131T=
c.1190T= (p.Leu397=)
16g.31462642G>ACA494934128ARMC5c.1095G>A (p.Leu365=)
c.1380G>A (p.Leu460=)
c.603G>A (p.Leu201=)
c.213-130G>A
c.1191G>A (p.Leu397=)
 gnomAD v4
16g.31462642G>CCA494934129ARMC5c.1095G>C (p.Leu365=)
c.1380G>C (p.Leu460=)
c.603G>C (p.Leu201=)
c.213-130G>C
c.1191G>C (p.Leu397=)
16g.31462642G>TCA494934130ARMC5c.1095G>T (p.Leu365=)
c.1380G>T (p.Leu460=)
c.603G>T (p.Leu201=)
c.213-130G>T
c.1191G>T (p.Leu397=)
16g.31462643C>ACA494934131ARMC5c.1096C>A (p.Arg366=)
c.1381C>A (p.Arg461=)
c.604C>A (p.Arg202=)
c.213-129C>A
c.1192C>A (p.Arg398=)
16g.31462643C=CA2217060718ARMC5c.1096C= (p.Arg366=)
c.1381C= (p.Arg461=)
c.604C= (p.Arg202=)
c.213-129C=
c.1192C= (p.Arg398=)
16g.31462643C>GCA395733454ARMC5c.1096C>G (p.Arg366Gly)
c.1381C>G (p.Arg461Gly)
c.604C>G (p.Arg202Gly)
c.213-129C>G
c.1192C>G (p.Arg398Gly)
16g.31462643C>TCA395733455ARMC5c.1096C>T (p.Arg366Trp)
c.1381C>T (p.Arg461Trp)
c.604C>T (p.Arg202Trp)
c.213-129C>T
c.1192C>T (p.Arg398Trp)
 dbSNP gnomAD v4 COSMIC COSMIC
16g.31462644G>ACA395733456ARMC5c.1097G>A (p.Arg366Gln)
c.1382G>A (p.Arg461Gln)
c.605G>A (p.Arg202Gln)
c.213-128G>A
c.1193G>A (p.Arg398Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.31462644G>CCA395733457ARMC5c.1097G>C (p.Arg366Pro)
c.1382G>C (p.Arg461Pro)
c.605G>C (p.Arg202Pro)
c.213-128G>C
c.1193G>C (p.Arg398Pro)
16g.31462644G=CA2217060719ARMC5c.1097G= (p.Arg366=)
c.1382G= (p.Arg461=)
c.605G= (p.Arg202=)
c.213-128G=
c.1193G= (p.Arg398=)
16g.31462644G>TCA395733458ARMC5c.1097G>T (p.Arg366Leu)
c.1382G>T (p.Arg461Leu)
c.605G>T (p.Arg202Leu)
c.213-128G>T
c.1193G>T (p.Arg398Leu)
16g.31462645G>ACA494934132ARMC5c.1098G>A (p.Arg366=)
c.1383G>A (p.Arg461=)
c.606G>A (p.Arg202=)
c.213-127G>A
c.1194G>A (p.Arg398=)
16g.31462645G>CCA494934133ARMC5c.1098G>C (p.Arg366=)
c.1383G>C (p.Arg461=)
c.606G>C (p.Arg202=)
c.213-127G>C
c.1194G>C (p.Arg398=)
16g.31462645G>TCA494934134ARMC5c.1098G>T (p.Arg366=)
c.1383G>T (p.Arg461=)
c.606G>T (p.Arg202=)
c.213-127G>T
c.1194G>T (p.Arg398=)
16g.31462646G>ACA395733461ARMC5c.1099G>A (p.Asp367Asn)
c.1384G>A (p.Asp462Asn)
c.607G>A (p.Asp203Asn)
c.213-126G>A
c.1195G>A (p.Asp399Asn)
16g.31462646G>CCA395733460ARMC5c.1099G>C (p.Asp367His)
c.1384G>C (p.Asp462His)
c.607G>C (p.Asp203His)
c.213-126G>C
c.1195G>C (p.Asp399His)
16g.31462646G>TCA395733459ARMC5c.1099G>T (p.Asp367Tyr)
c.1384G>T (p.Asp462Tyr)
c.607G>T (p.Asp203Tyr)
c.213-126G>T
c.1195G>T (p.Asp399Tyr)
 gnomAD v4 COSMIC COSMIC
16g.31462647A>CCA395733462ARMC5c.1100A>C (p.Asp367Ala)
c.1385A>C (p.Asp462Ala)
c.608A>C (p.Asp203Ala)
c.213-125A>C
c.1196A>C (p.Asp399Ala)
16g.31462647A>GCA395733463ARMC5c.1100A>G (p.Asp367Gly)
c.1385A>G (p.Asp462Gly)
c.608A>G (p.Asp203Gly)
c.213-125A>G
c.1196A>G (p.Asp399Gly)
16g.31462647A>TCA395733464ARMC5c.1100A>T (p.Asp367Val)
c.1385A>T (p.Asp462Val)
c.608A>T (p.Asp203Val)
c.213-125A>T
c.1196A>T (p.Asp399Val)
 gnomAD v4
16g.31462648T>ACA395733465ARMC5c.1101T>A (p.Asp367Glu)
c.1386T>A (p.Asp462Glu)
c.609T>A (p.Asp203Glu)
c.213-124T>A
c.1197T>A (p.Asp399Glu)
16g.31462648T>CCA494934135ARMC5c.1101T>C (p.Asp367=)
c.1386T>C (p.Asp462=)
c.609T>C (p.Asp203=)
c.213-124T>C
c.1197T>C (p.Asp399=)
16g.31462648T>GCA395733466ARMC5c.1101T>G (p.Asp367Glu)
c.1386T>G (p.Asp462Glu)
c.609T>G (p.Asp203Glu)
c.213-124T>G
c.1197T>G (p.Asp399Glu)
16g.31462649G>ACA395733467ARMC5c.1102G>A (p.Ala368Thr)
c.1387G>A (p.Ala463Thr)
c.610G>A (p.Ala204Thr)
c.213-123G>A
c.1198G>A (p.Ala400Thr)
 gnomAD v4
16g.31462649G>CCA395733468ARMC5c.1102G>C (p.Ala368Pro)
c.1387G>C (p.Ala463Pro)
c.610G>C (p.Ala204Pro)
c.213-123G>C
c.1198G>C (p.Ala400Pro)
16g.31462649G=CA2217060720ARMC5c.1102G= (p.Ala368=)
c.1387G= (p.Ala463=)
c.610G= (p.Ala204=)
c.213-123G=
c.1198G= (p.Ala400=)
16g.31462649G>TCA8029604ARMC5c.1102G>T (p.Ala368Ser)
c.1387G>T (p.Ala463Ser)
c.610G>T (p.Ala204Ser)
c.213-123G>T
c.1198G>T (p.Ala400Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.31462650C>ACA395733469ARMC5c.1103C>A (p.Ala368Asp)
c.1388C>A (p.Ala463Asp)
c.611C>A (p.Ala204Asp)
c.213-122C>A
c.1199C>A (p.Ala400Asp)
16g.31462650C>GCA395733470ARMC5c.1103C>G (p.Ala368Gly)
c.1388C>G (p.Ala463Gly)
c.611C>G (p.Ala204Gly)
c.213-122C>G
c.1199C>G (p.Ala400Gly)
16g.31462650C>TCA395733471ARMC5c.1103C>T (p.Ala368Val)
c.1388C>T (p.Ala463Val)
c.611C>T (p.Ala204Val)
c.213-122C>T
c.1199C>T (p.Ala400Val)
 gnomAD v4
16g.31462651T>ACA494934136ARMC5c.1104T>A (p.Ala368=)
c.1389T>A (p.Ala463=)
c.612T>A (p.Ala204=)
c.213-121T>A
c.1200T>A (p.Ala400=)
16g.31462651T>CCA494934137ARMC5c.1104T>C (p.Ala368=)
c.1389T>C (p.Ala463=)
c.612T>C (p.Ala204=)
c.213-121T>C
c.1200T>C (p.Ala400=)
 gnomAD v4
16g.31462651T>GCA494934138ARMC5c.1104T>G (p.Ala368=)
c.1389T>G (p.Ala463=)
c.612T>G (p.Ala204=)
c.213-121T>G
c.1200T>G (p.Ala400=)
16g.31462652G>ACA395733474ARMC5c.1105G>A (p.Gly369Ser)
c.1390G>A (p.Gly464Ser)
c.613G>A (p.Gly205Ser)
c.213-120G>A
c.1201G>A (p.Gly401Ser)
16g.31462652G>CCA395733473ARMC5c.1105G>C (p.Gly369Arg)
c.1390G>C (p.Gly464Arg)
c.613G>C (p.Gly205Arg)
c.213-120G>C
c.1201G>C (p.Gly401Arg)
16g.31462652G>TCA395733472ARMC5c.1105G>T (p.Gly369Cys)
c.1390G>T (p.Gly464Cys)
c.613G>T (p.Gly205Cys)
c.213-120G>T
c.1201G>T (p.Gly401Cys)
16g.31462653G>ACA395733475ARMC5c.1106G>A (p.Gly369Asp)
c.1391G>A (p.Gly464Asp)
c.614G>A (p.Gly205Asp)
c.213-119G>A
c.1202G>A (p.Gly401Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.31462653G>CCA395733476ARMC5c.1106G>C (p.Gly369Ala)
c.1391G>C (p.Gly464Ala)
c.614G>C (p.Gly205Ala)
c.213-119G>C
c.1202G>C (p.Gly401Ala)
16g.31462653G>TCA395733477ARMC5c.1106G>T (p.Gly369Val)
c.1391G>T (p.Gly464Val)
c.614G>T (p.Gly205Val)
c.213-119G>T
c.1202G>T (p.Gly401Val)
16g.31462654T>ACA494933567ARMC5c.1107T>A (p.Gly369=)
c.1392T>A (p.Gly464=)
c.615T>A (p.Gly205=)
c.213-118T>A
c.1203T>A (p.Gly401=)
16g.31462654T>CCA494933569ARMC5c.1107T>C (p.Gly369=)
c.1392T>C (p.Gly464=)
c.615T>C (p.Gly205=)
c.213-118T>C
c.1203T>C (p.Gly401=)
 dbSNP gnomAD v3 gnomAD v4
16g.31462654T>GCA494933570ARMC5c.1107T>G (p.Gly369=)
c.1392T>G (p.Gly464=)
c.615T>G (p.Gly205=)
c.213-118T>G
c.1203T>G (p.Gly401=)
16g.31462654T=CA2217060721ARMC5c.1107T= (p.Gly369=)
c.1392T= (p.Gly464=)
c.615T= (p.Gly205=)
c.213-118T=
c.1203T= (p.Gly401=)
16g.31462655G>ACA395733478ARMC5c.1108G>A (p.Gly370Ser)
c.1393G>A (p.Gly465Ser)
c.616G>A (p.Gly206Ser)
c.213-117G>A
c.1204G>A (p.Gly402Ser)
16g.31462655G>CCA395733479ARMC5c.1108G>C (p.Gly370Arg)
c.1393G>C (p.Gly465Arg)
c.616G>C (p.Gly206Arg)
c.213-117G>C
c.1204G>C (p.Gly402Arg)
16g.31462655G>TCA395733480ARMC5c.1108G>T (p.Gly370Cys)
c.1393G>T (p.Gly465Cys)
c.616G>T (p.Gly206Cys)
c.213-117G>T
c.1204G>T (p.Gly402Cys)

Number of alleles fetched