| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31462539T>A | CA395733251 | ARMC5 | c.992T>A (p.Leu331His) c.1277T>A (p.Leu426His) c.500T>A (p.Leu167His) c.213-233T>A c.1088T>A (p.Leu363His) | |
| 16 | g.31462539T>C | CA395733252 | ARMC5 | c.992T>C (p.Leu331Pro) c.1277T>C (p.Leu426Pro) c.500T>C (p.Leu167Pro) c.213-233T>C c.1088T>C (p.Leu363Pro) | |
| 16 | g.31462539T>G | CA395733253 | ARMC5 | c.992T>G (p.Leu331Arg) c.1277T>G (p.Leu426Arg) c.500T>G (p.Leu167Arg) c.213-233T>G c.1088T>G (p.Leu363Arg) | |
| 16 | g.31462540C>A | CA494933947 | ARMC5 | c.993C>A (p.Leu331=) c.1278C>A (p.Leu426=) c.501C>A (p.Leu167=) c.213-232C>A c.1089C>A (p.Leu363=) | |
| 16 | g.31462540C>G | CA494933949 | ARMC5 | c.993C>G (p.Leu331=) c.1278C>G (p.Leu426=) c.501C>G (p.Leu167=) c.213-232C>G c.1089C>G (p.Leu363=) | |
| 16 | g.31462540C>T | CA494933948 | ARMC5 | c.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 |
| 16 | g.31462541del | CA2732051727 | ARMC5 | c.994del (p.Arg332GlyfsTer?) c.1279del (p.Arg427GlyfsTer?) c.502del (p.Arg168GlyfsTer?) c.213-231del c.1090del (p.Arg364GlyfsTer?) | dbSNP |
| 16 | g.31462541C>A | CA494933952 | ARMC5 | c.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 |
| 16 | g.31462541C= | CA2217060676 | ARMC5 | c.994C= (p.Arg332=) c.1279C= (p.Arg427=) c.502C= (p.Arg168=) c.213-231C= c.1090C= (p.Arg364=) | |
| 16 | g.31462541C>G | CA395733254 | ARMC5 | c.994C>G (p.Arg332Gly) c.1279C>G (p.Arg427Gly) c.502C>G (p.Arg168Gly) c.213-231C>G c.1090C>G (p.Arg364Gly) | |
| 16 | g.31462541C>T | CA8029587 | ARMC5 | c.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 |
| 16 | g.31462542G>A | CA280639878 | ARMC5 | c.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 |
| 16 | g.31462542G>C | CA395733255 | ARMC5 | c.995G>C (p.Arg332Pro) c.1280G>C (p.Arg427Pro) c.503G>C (p.Arg168Pro) c.213-230G>C c.1091G>C (p.Arg364Pro) | |
| 16 | g.31462542G= | CA2217060677 | ARMC5 | c.995G= (p.Arg332=) c.1280G= (p.Arg427=) c.503G= (p.Arg168=) c.213-230G= c.1091G= (p.Arg364=) | |
| 16 | g.31462542G>T | CA395733256 | ARMC5 | c.995G>T (p.Arg332Leu) c.1280G>T (p.Arg427Leu) c.503G>T (p.Arg168Leu) c.213-230G>T c.1091G>T (p.Arg364Leu) | |
| 16 | g.31462543G>A | CA494933955 | ARMC5 | c.996G>A (p.Arg332=) c.1281G>A (p.Arg427=) c.504G>A (p.Arg168=) c.213-229G>A c.1092G>A (p.Arg364=) | |
| 16 | g.31462543G>C | CA494933956 | ARMC5 | c.996G>C (p.Arg332=) c.1281G>C (p.Arg427=) c.504G>C (p.Arg168=) c.213-229G>C c.1092G>C (p.Arg364=) | |
| 16 | g.31462543G>T | CA494933957 | ARMC5 | c.996G>T (p.Arg332=) c.1281G>T (p.Arg427=) c.504G>T (p.Arg168=) c.213-229G>T c.1092G>T (p.Arg364=) | |
| 16 | g.31462544C>A | CA395733257 | ARMC5 | c.997C>A (p.Gln333Lys) c.1282C>A (p.Gln428Lys) c.505C>A (p.Gln169Lys) c.213-228C>A c.1093C>A (p.Gln365Lys) | |
| 16 | g.31462544C>G | CA395733258 | ARMC5 | c.997C>G (p.Gln333Glu) c.1282C>G (p.Gln428Glu) c.505C>G (p.Gln169Glu) c.213-228C>G c.1093C>G (p.Gln365Glu) | |
| 16 | g.31462544C>T | CA395733259 | ARMC5 | c.997C>T (p.Gln333Ter) c.1282C>T (p.Gln428Ter) c.505C>T (p.Gln169Ter) c.213-228C>T c.1093C>T (p.Gln365Ter) | |
| 16 | g.31462545A>C | CA395733262 | ARMC5 | c.998A>C (p.Gln333Pro) c.1283A>C (p.Gln428Pro) c.506A>C (p.Gln169Pro) c.213-227A>C c.1094A>C (p.Gln365Pro) | |
| 16 | g.31462545A>G | CA395733261 | ARMC5 | c.998A>G (p.Gln333Arg) c.1283A>G (p.Gln428Arg) c.506A>G (p.Gln169Arg) c.213-227A>G c.1094A>G (p.Gln365Arg) | |
| 16 | g.31462545A>T | CA395733260 | ARMC5 | c.998A>T (p.Gln333Leu) c.1283A>T (p.Gln428Leu) c.506A>T (p.Gln169Leu) c.213-227A>T c.1094A>T (p.Gln365Leu) | |
| 16 | g.31462546G>A | CA494933963 | ARMC5 | c.999G>A (p.Gln333=) c.1284G>A (p.Gln428=) c.507G>A (p.Gln169=) c.213-226G>A c.1095G>A (p.Gln365=) | |
| 16 | g.31462546G>C | CA395733263 | ARMC5 | c.999G>C (p.Gln333His) c.1284G>C (p.Gln428His) c.507G>C (p.Gln169His) c.213-226G>C c.1095G>C (p.Gln365His) | |
| 16 | g.31462546G>T | CA395733264 | ARMC5 | c.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 |
| 16 | g.31462547C>A | CA395733265 | ARMC5 | c.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 |
| 16 | g.31462547C= | CA2217060678 | ARMC5 | c.1000C= (p.Arg334=) c.1285C= (p.Arg429=) c.508C= (p.Arg170=) c.213-225C= c.1096C= (p.Arg366=) | |
| 16 | g.31462547C>G | CA395733266 | ARMC5 | c.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 |
| 16 | g.31462547C>T | CA8029588 | ARMC5 | c.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 |
| 16 | g.31462548G>A | CA8029589 | ARMC5 | c.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 |
| 16 | g.31462548G>C | CA395733267 | ARMC5 | c.1001G>C (p.Arg334Pro) c.1286G>C (p.Arg429Pro) c.509G>C (p.Arg170Pro) c.213-224G>C c.1097G>C (p.Arg366Pro) | |
| 16 | g.31462548G= | CA2217060679 | ARMC5 | c.1001G= (p.Arg334=) c.1286G= (p.Arg429=) c.509G= (p.Arg170=) c.213-224G= c.1097G= (p.Arg366=) | |
| 16 | g.31462548G>T | CA395733268 | ARMC5 | c.1001G>T (p.Arg334Leu) c.1286G>T (p.Arg429Leu) c.509G>T (p.Arg170Leu) c.213-224G>T c.1097G>T (p.Arg366Leu) | |
| 16 | g.31462549C>A | CA494933972 | ARMC5 | c.1002C>A (p.Arg334=) c.1287C>A (p.Arg429=) c.510C>A (p.Arg170=) c.213-223C>A c.1098C>A (p.Arg366=) | |
| 16 | g.31462549C>G | CA494933973 | ARMC5 | c.1002C>G (p.Arg334=) c.1287C>G (p.Arg429=) c.510C>G (p.Arg170=) c.213-223C>G c.1098C>G (p.Arg366=) | |
| 16 | g.31462549C>T | CA494933975 | ARMC5 | c.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 |
| 16 | g.31462550C>A | CA494933976 | ARMC5 | c.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 |
| 16 | g.31462550C= | CA2217060680 | ARMC5 | c.1003C= (p.Arg335=) c.1288C= (p.Arg430=) c.511C= (p.Arg171=) c.213-222C= c.1099C= (p.Arg367=) | |
| 16 | g.31462550C>G | CA395733269 | ARMC5 | c.1003C>G (p.Arg335Gly) c.1288C>G (p.Arg430Gly) c.511C>G (p.Arg171Gly) c.213-222C>G c.1099C>G (p.Arg367Gly) | |
| 16 | g.31462550C>T | CA8029590 | ARMC5 | c.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 |
| 16 | g.31462551G>A | CA8029591 | ARMC5 | c.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 |
| 16 | g.31462551G>C | CA8029592 | ARMC5 | c.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 |
| 16 | g.31462551G= | CA2217060681 | ARMC5 | c.1004G= (p.Arg335=) c.1289G= (p.Arg430=) c.512G= (p.Arg171=) c.213-221G= c.1100G= (p.Arg367=) | |
| 16 | g.31462551G>T | CA395733270 | ARMC5 | c.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 |
| 16 | g.31462552G>A | CA494933979 | ARMC5 | c.1005G>A (p.Arg335=) c.1290G>A (p.Arg430=) c.513G>A (p.Arg171=) c.213-220G>A c.1101G>A (p.Arg367=) | |
| 16 | g.31462552G>C | CA494933984 | ARMC5 | c.1005G>C (p.Arg335=) c.1290G>C (p.Arg430=) c.513G>C (p.Arg171=) c.213-220G>C c.1101G>C (p.Arg367=) | |
| 16 | g.31462552G>T | CA494933981 | ARMC5 | c.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 |
| 16 | g.31462553G>A | CA395733273 | ARMC5 | c.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 |
| 16 | g.31462553G>C | CA395733271 | ARMC5 | c.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 |
| 16 | g.31462553G= | CA2217060682 | ARMC5 | c.1006G= (p.Asp336=) c.1291G= (p.Asp431=) c.514G= (p.Asp172=) c.213-219G= c.1102G= (p.Asp368=) | |
| 16 | g.31462553G>T | CA395733272 | ARMC5 | c.1006G>T (p.Asp336Tyr) c.1291G>T (p.Asp431Tyr) c.514G>T (p.Asp172Tyr) c.213-219G>T c.1102G>T (p.Asp368Tyr) | |
| 16 | g.31462554A= | CA2217060683 | ARMC5 | c.1007A= (p.Asp336=) c.1292A= (p.Asp431=) c.515A= (p.Asp172=) c.213-218A= c.1103A= (p.Asp368=) | |
| 16 | g.31462554A>C | CA395733274 | ARMC5 | c.1007A>C (p.Asp336Ala) c.1292A>C (p.Asp431Ala) c.515A>C (p.Asp172Ala) c.213-218A>C c.1103A>C (p.Asp368Ala) | |
| 16 | g.31462554A>G | CA280639902 | ARMC5 | c.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 |
| 16 | g.31462554A>T | CA395733275 | ARMC5 | c.1007A>T (p.Asp336Val) c.1292A>T (p.Asp431Val) c.515A>T (p.Asp172Val) c.213-218A>T c.1103A>T (p.Asp368Val) | |
| 16 | g.31462555T>A | CA395733276 | ARMC5 | c.1008T>A (p.Asp336Glu) c.1293T>A (p.Asp431Glu) c.516T>A (p.Asp172Glu) c.213-217T>A c.1104T>A (p.Asp368Glu) | |
| 16 | g.31462555T>C | CA494933990 | ARMC5 | c.1008T>C (p.Asp336=) c.1293T>C (p.Asp431=) c.516T>C (p.Asp172=) c.213-217T>C c.1104T>C (p.Asp368=) | |
| 16 | g.31462555T>G | CA395733277 | ARMC5 | c.1008T>G (p.Asp336Glu) c.1293T>G (p.Asp431Glu) c.516T>G (p.Asp172Glu) c.213-217T>G c.1104T>G (p.Asp368Glu) | |
| 16 | g.31462556C>A | CA395733278 | ARMC5 | c.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 |
| 16 | g.31462556C>G | CA395733279 | ARMC5 | c.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 |
| 16 | g.31462556C>T | CA395733280 | ARMC5 | c.1009C>T (p.Pro337Ser) c.1294C>T (p.Pro432Ser) c.517C>T (p.Pro173Ser) c.213-216C>T c.1105C>T (p.Pro369Ser) | |
| 16 | g.31462557C>A | CA395733281 | ARMC5 | c.1010C>A (p.Pro337His) c.1295C>A (p.Pro432His) c.518C>A (p.Pro173His) c.213-215C>A c.1106C>A (p.Pro369His) | |
| 16 | g.31462557C>G | CA395733282 | ARMC5 | c.1010C>G (p.Pro337Arg) c.1295C>G (p.Pro432Arg) c.518C>G (p.Pro173Arg) c.213-215C>G c.1106C>G (p.Pro369Arg) | |
| 16 | g.31462557C>T | CA395733283 | ARMC5 | c.1010C>T (p.Pro337Leu) c.1295C>T (p.Pro432Leu) c.518C>T (p.Pro173Leu) c.213-215C>T c.1106C>T (p.Pro369Leu) | |
| 16 | g.31462558T>A | CA494933996 | ARMC5 | c.1011T>A (p.Pro337=) c.1296T>A (p.Pro432=) c.519T>A (p.Pro173=) c.213-214T>A c.1107T>A (p.Pro369=) | |
| 16 | g.31462558T>C | CA494933998 | ARMC5 | c.1011T>C (p.Pro337=) c.1296T>C (p.Pro432=) c.519T>C (p.Pro173=) c.213-214T>C c.1107T>C (p.Pro369=) | |
| 16 | g.31462558T>G | CA494933999 | ARMC5 | c.1011T>G (p.Pro337=) c.1296T>G (p.Pro432=) c.519T>G (p.Pro173=) c.213-214T>G c.1107T>G (p.Pro369=) | |
| 16 | g.31462559A>C | CA395733285 | ARMC5 | c.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 |
| 16 | g.31462559A>G | CA395733286 | ARMC5 | c.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 |
| 16 | g.31462559A>T | CA395733284 | ARMC5 | c.1012A>T (p.Asn338Tyr) c.1297A>T (p.Asn433Tyr) c.520A>T (p.Asn174Tyr) c.213-213A>T c.1108A>T (p.Asn370Tyr) | |
| 16 | g.31462560A>C | CA395733287 | ARMC5 | c.1013A>C (p.Asn338Thr) c.1298A>C (p.Asn433Thr) c.521A>C (p.Asn174Thr) c.213-212A>C c.1109A>C (p.Asn370Thr) | |
| 16 | g.31462560A>G | CA395733288 | ARMC5 | c.1013A>G (p.Asn338Ser) c.1298A>G (p.Asn433Ser) c.521A>G (p.Asn174Ser) c.213-212A>G c.1109A>G (p.Asn370Ser) | |
| 16 | g.31462560A>T | CA395733289 | ARMC5 | c.1013A>T (p.Asn338Ile) c.1298A>T (p.Asn433Ile) c.521A>T (p.Asn174Ile) c.213-212A>T c.1109A>T (p.Asn370Ile) | |
| 16 | g.31462561T>A | CA395733290 | ARMC5 | c.1014T>A (p.Asn338Lys) c.1299T>A (p.Asn433Lys) c.522T>A (p.Asn174Lys) c.213-211T>A c.1110T>A (p.Asn370Lys) | |
| 16 | g.31462561T>C | CA494934004 | ARMC5 | c.1014T>C (p.Asn338=) c.1299T>C (p.Asn433=) c.522T>C (p.Asn174=) c.213-211T>C c.1110T>C (p.Asn370=) | |
| 16 | g.31462561T>G | CA395733291 | ARMC5 | c.1014T>G (p.Asn338Lys) c.1299T>G (p.Asn433Lys) c.522T>G (p.Asn174Lys) c.213-211T>G c.1110T>G (p.Asn370Lys) | |
| 16 | g.31462562G>A | CA8029593 | ARMC5 | c.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 |
| 16 | g.31462562G>C | CA395733293 | ARMC5 | c.1015G>C (p.Gly339Arg) c.1300G>C (p.Gly434Arg) c.523G>C (p.Gly175Arg) c.213-210G>C c.1111G>C (p.Gly371Arg) | |
| 16 | g.31462562G= | CA2217060684 | ARMC5 | c.1015G= (p.Gly339=) c.1300G= (p.Gly434=) c.523G= (p.Gly175=) c.213-210G= c.1111G= (p.Gly371=) | |
| 16 | g.31462562G>T | CA395733292 | ARMC5 | c.1015G>T (p.Gly339Ter) c.1300G>T (p.Gly434Ter) c.523G>T (p.Gly175Ter) c.213-210G>T c.1111G>T (p.Gly371Ter) | |
| 16 | g.31462563G>A | CA395733294 | ARMC5 | c.1016G>A (p.Gly339Glu) c.1301G>A (p.Gly434Glu) c.524G>A (p.Gly175Glu) c.213-209G>A c.1112G>A (p.Gly371Glu) | |
| 16 | g.31462563G>C | CA395733295 | ARMC5 | c.1016G>C (p.Gly339Ala) c.1301G>C (p.Gly434Ala) c.524G>C (p.Gly175Ala) c.213-209G>C c.1112G>C (p.Gly371Ala) | |
| 16 | g.31462563G>T | CA395733296 | ARMC5 | c.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 |
| 16 | g.31462564A= | CA2217060685 | ARMC5 | c.1017A= (p.Gly339=) c.1302A= (p.Gly434=) c.525A= (p.Gly175=) c.213-208A= c.1113A= (p.Gly371=) | |
| 16 | g.31462564A>C | CA494934006 | ARMC5 | c.1017A>C (p.Gly339=) c.1302A>C (p.Gly434=) c.525A>C (p.Gly175=) c.213-208A>C c.1113A>C (p.Gly371=) | |
| 16 | g.31462564A>G | CA494934008 | ARMC5 | c.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 |
| 16 | g.31462564A>T | CA494934010 | ARMC5 | c.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 |
| 16 | g.31462565G>A | CA395733297 | ARMC5 | c.1018G>A (p.Ala340Thr) c.1303G>A (p.Ala435Thr) c.526G>A (p.Ala176Thr) c.213-207G>A c.1114G>A (p.Ala372Thr) | |
| 16 | g.31462565G>C | CA395733298 | ARMC5 | c.1018G>C (p.Ala340Pro) c.1303G>C (p.Ala435Pro) c.526G>C (p.Ala176Pro) c.213-207G>C c.1114G>C (p.Ala372Pro) | |
| 16 | g.31462565G>T | CA395733299 | ARMC5 | c.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 |
| 16 | g.31462566C>A | CA395733300 | ARMC5 | c.1019C>A (p.Ala340Asp) c.1304C>A (p.Ala435Asp) c.527C>A (p.Ala176Asp) c.213-206C>A c.1115C>A (p.Ala372Asp) | |
| 16 | g.31462566C>G | CA395733302 | ARMC5 | c.1019C>G (p.Ala340Gly) c.1304C>G (p.Ala435Gly) c.527C>G (p.Ala176Gly) c.213-206C>G c.1115C>G (p.Ala372Gly) | |
| 16 | g.31462566C>T | CA395733301 | ARMC5 | c.1019C>T (p.Ala340Val) c.1304C>T (p.Ala435Val) c.527C>T (p.Ala176Val) c.213-206C>T c.1115C>T (p.Ala372Val) | |
| 16 | g.31462567T>A | CA494934018 | ARMC5 | c.1020T>A (p.Ala340=) c.1305T>A (p.Ala435=) c.528T>A (p.Ala176=) c.213-205T>A c.1116T>A (p.Ala372=) | |
| 16 | g.31462567T>C | CA494934019 | ARMC5 | c.1020T>C (p.Ala340=) c.1305T>C (p.Ala435=) c.528T>C (p.Ala176=) c.213-205T>C c.1116T>C (p.Ala372=) | |
| 16 | g.31462567T>G | CA494934020 | ARMC5 | c.1020T>G (p.Ala340=) c.1305T>G (p.Ala435=) c.528T>G (p.Ala176=) c.213-205T>G c.1116T>G (p.Ala372=) | |
| 16 | g.31462568A= | CA2217060686 | ARMC5 | c.1021A= (p.Ser341=) c.1306A= (p.Ser436=) c.529A= (p.Ser177=) c.213-204A= c.1117A= (p.Ser373=) | |
| 16 | g.31462568A>C | CA395733303 | ARMC5 | c.1021A>C (p.Ser341Arg) c.1306A>C (p.Ser436Arg) c.529A>C (p.Ser177Arg) c.213-204A>C c.1117A>C (p.Ser373Arg) | |
| 16 | g.31462568A>G | CA395733304 | ARMC5 | c.1021A>G (p.Ser341Gly) c.1306A>G (p.Ser436Gly) c.529A>G (p.Ser177Gly) c.213-204A>G c.1117A>G (p.Ser373Gly) | |
| 16 | g.31462568A>T | CA8029594 | ARMC5 | c.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 |
| 16 | g.31462569G>A | CA395733305 | ARMC5 | c.1022G>A (p.Ser341Asn) c.1307G>A (p.Ser436Asn) c.530G>A (p.Ser177Asn) c.213-203G>A c.1118G>A (p.Ser373Asn) | |
| 16 | g.31462569G>C | CA395733306 | ARMC5 | c.1022G>C (p.Ser341Thr) c.1307G>C (p.Ser436Thr) c.530G>C (p.Ser177Thr) c.213-203G>C c.1118G>C (p.Ser373Thr) | |
| 16 | g.31462569G>T | CA395733307 | ARMC5 | c.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 |
| 16 | g.31462570C>A | CA395733308 | ARMC5 | c.1023C>A (p.Ser341Arg) c.1308C>A (p.Ser436Arg) c.531C>A (p.Ser177Arg) c.213-202C>A c.1119C>A (p.Ser373Arg) | dbSNP |
| 16 | g.31462570C= | CA2217060687 | ARMC5 | c.1023C= (p.Ser341=) c.1308C= (p.Ser436=) c.531C= (p.Ser177=) c.213-202C= c.1119C= (p.Ser373=) | |
| 16 | g.31462570C>G | CA395733309 | ARMC5 | c.1023C>G (p.Ser341Arg) c.1308C>G (p.Ser436Arg) c.531C>G (p.Ser177Arg) c.213-202C>G c.1119C>G (p.Ser373Arg) | |
| 16 | g.31462570C>T | CA8029595 | ARMC5 | c.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 |
| 16 | g.31462571C>A | CA395733310 | ARMC5 | c.1024C>A (p.Pro342Thr) c.1309C>A (p.Pro437Thr) c.532C>A (p.Pro178Thr) c.213-201C>A c.1120C>A (p.Pro374Thr) | |
| 16 | g.31462571C= | CA2217060688 | ARMC5 | c.1024C= (p.Pro342=) c.1309C= (p.Pro437=) c.532C= (p.Pro178=) c.213-201C= c.1120C= (p.Pro374=) | |
| 16 | g.31462571C>G | CA395733311 | ARMC5 | c.1024C>G (p.Pro342Ala) c.1309C>G (p.Pro437Ala) c.532C>G (p.Pro178Ala) c.213-201C>G c.1120C>G (p.Pro374Ala) | |
| 16 | g.31462571C>T | CA395733312 | ARMC5 | c.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 |
| 16 | g.31462572C>A | CA395733314 | ARMC5 | c.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 |
| 16 | g.31462572C= | CA2217060689 | ARMC5 | c.1025C= (p.Pro342=) c.1310C= (p.Pro437=) c.533C= (p.Pro178=) c.213-200C= c.1121C= (p.Pro374=) | |
| 16 | g.31462572C>G | CA395733315 | ARMC5 | c.1025C>G (p.Pro342Arg) c.1310C>G (p.Pro437Arg) c.533C>G (p.Pro178Arg) c.213-200C>G c.1121C>G (p.Pro374Arg) | dbSNP |
| 16 | g.31462572C>T | CA395733313 | ARMC5 | c.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 |
| 16 | g.31462573A= | CA2217060690 | ARMC5 | c.1026A= (p.Pro342=) c.1311A= (p.Pro437=) c.534A= (p.Pro178=) c.213-199A= c.1122A= (p.Pro374=) | |
| 16 | g.31462573A>C | CA494934031 | ARMC5 | c.1026A>C (p.Pro342=) c.1311A>C (p.Pro437=) c.534A>C (p.Pro178=) c.213-199A>C c.1122A>C (p.Pro374=) | |
| 16 | g.31462573A>G | CA280639928 | ARMC5 | c.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 |
| 16 | g.31462573A>T | CA494934032 | ARMC5 | c.1026A>T (p.Pro342=) c.1311A>T (p.Pro437=) c.534A>T (p.Pro178=) c.213-199A>T c.1122A>T (p.Pro374=) | |
| 16 | g.31462574A= | CA2217060692 | ARMC5 | c.1027A= (p.Thr343=) c.1312A= (p.Thr438=) c.535A= (p.Thr179=) c.213-198A= c.1123A= (p.Thr375=) | |
| 16 | g.31462574A>C | CA395733316 | ARMC5 | c.1027A>C (p.Thr343Pro) c.1312A>C (p.Thr438Pro) c.535A>C (p.Thr179Pro) c.213-198A>C c.1123A>C (p.Thr375Pro) | |
| 16 | g.31462574A>G | CA395733317 | ARMC5 | c.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 |
| 16 | g.31462574A>T | CA395733318 | ARMC5 | c.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 |
| 16 | g.31462574_31462575delinsAC | CA2217060691 | ARMC5 | c.1027_1028delinsAC (p.Thr343=) c.1312_1313delinsAC (p.Thr438=) c.535_536delinsAC (p.Thr179=) c.213-198_213-197delinsAC c.1123_1124delinsAC (p.Thr375=) | |
| 16 | g.31462575C>A | CA395733319 | ARMC5 | c.1028C>A (p.Thr343Asn) c.1313C>A (p.Thr438Asn) c.536C>A (p.Thr179Asn) c.213-197C>A c.1124C>A (p.Thr375Asn) | dbSNP |
| 16 | g.31462575C= | CA2217060693 | ARMC5 | c.1028C= (p.Thr343=) c.1313C= (p.Thr438=) c.536C= (p.Thr179=) c.213-197C= c.1124C= (p.Thr375=) | |
| 16 | g.31462575C>G | CA395733320 | ARMC5 | c.1028C>G (p.Thr343Ser) c.1313C>G (p.Thr438Ser) c.536C>G (p.Thr179Ser) c.213-197C>G c.1124C>G (p.Thr375Ser) | |
| 16 | g.31462575C>T | CA395733321 | ARMC5 | c.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 |
| 16 | g.31462576del | CA622173976 | ARMC5 | c.1029del (p.Ser344ProfsTer?) c.1314del (p.Ser439ProfsTer?) c.537del (p.Ser180ProfsTer?) c.213-196del c.1125del (p.Ser376ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462576C>A | CA494934039 | ARMC5 | c.1029C>A (p.Thr343=) c.1314C>A (p.Thr438=) c.537C>A (p.Thr179=) c.213-196C>A c.1125C>A (p.Thr375=) | |
| 16 | g.31462576C= | CA2217060694 | ARMC5 | c.1029C= (p.Thr343=) c.1314C= (p.Thr438=) c.537C= (p.Thr179=) c.213-196C= c.1125C= (p.Thr375=) | |
| 16 | g.31462576C>G | CA494934037 | ARMC5 | c.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 |
| 16 | g.31462576C>T | CA494934038 | ARMC5 | c.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 |
| 16 | g.31462577T>A | CA395733324 | ARMC5 | c.1030T>A (p.Ser344Thr) c.1315T>A (p.Ser439Thr) c.538T>A (p.Ser180Thr) c.213-195T>A c.1126T>A (p.Ser376Thr) | |
| 16 | g.31462577T>C | CA395733322 | ARMC5 | c.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 |
| 16 | g.31462577T>G | CA395733323 | ARMC5 | c.1030T>G (p.Ser344Ala) c.1315T>G (p.Ser439Ala) c.538T>G (p.Ser180Ala) c.213-195T>G c.1126T>G (p.Ser376Ala) | |
| 16 | g.31462578C>A | CA395733325 | ARMC5 | c.1031C>A (p.Ser344Tyr) c.1316C>A (p.Ser439Tyr) c.539C>A (p.Ser180Tyr) c.213-194C>A c.1127C>A (p.Ser376Tyr) | |
| 16 | g.31462578C= | CA2217060695 | ARMC5 | c.1031C= (p.Ser344=) c.1316C= (p.Ser439=) c.539C= (p.Ser180=) c.213-194C= c.1127C= (p.Ser376=) | |
| 16 | g.31462578C>G | CA395733326 | ARMC5 | c.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 |
| 16 | g.31462578C>T | CA8029596 | ARMC5 | c.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 |
| 16 | g.31462579C>A | CA494934044 | ARMC5 | c.1032C>A (p.Ser344=) c.1317C>A (p.Ser439=) c.540C>A (p.Ser180=) c.213-193C>A c.1128C>A (p.Ser376=) | |
| 16 | g.31462579C>G | CA494934046 | ARMC5 | c.1032C>G (p.Ser344=) c.1317C>G (p.Ser439=) c.540C>G (p.Ser180=) c.213-193C>G c.1128C>G (p.Ser376=) | |
| 16 | g.31462579C>T | CA494934048 | ARMC5 | c.1032C>T (p.Ser344=) c.1317C>T (p.Ser439=) c.540C>T (p.Ser180=) c.213-193C>T c.1128C>T (p.Ser376=) | |
| 16 | g.31462580C>A | CA395733327 | ARMC5 | c.1033C>A (p.Gln345Lys) c.1318C>A (p.Gln440Lys) c.541C>A (p.Gln181Lys) c.213-192C>A c.1129C>A (p.Gln377Lys) | |
| 16 | g.31462580C>G | CA395733328 | ARMC5 | c.1033C>G (p.Gln345Glu) c.1318C>G (p.Gln440Glu) c.541C>G (p.Gln181Glu) c.213-192C>G c.1129C>G (p.Gln377Glu) | |
| 16 | g.31462580C>T | CA395733329 | ARMC5 | c.1033C>T (p.Gln345Ter) c.1318C>T (p.Gln440Ter) c.541C>T (p.Gln181Ter) c.213-192C>T c.1129C>T (p.Gln377Ter) | |
| 16 | g.31462581A>C | CA395733330 | ARMC5 | c.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 |
| 16 | g.31462581A>G | CA395733332 | ARMC5 | c.1034A>G (p.Gln345Arg) c.1319A>G (p.Gln440Arg) c.542A>G (p.Gln181Arg) c.213-191A>G c.1130A>G (p.Gln377Arg) | |
| 16 | g.31462581A>T | CA395733331 | ARMC5 | c.1034A>T (p.Gln345Leu) c.1319A>T (p.Gln440Leu) c.542A>T (p.Gln181Leu) c.213-191A>T c.1130A>T (p.Gln377Leu) | |
| 16 | g.31462582G>A | CA494934054 | ARMC5 | c.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 |
| 16 | g.31462582G>C | CA395733333 | ARMC5 | c.1035G>C (p.Gln345His) c.1320G>C (p.Gln440His) c.543G>C (p.Gln181His) c.213-190G>C c.1131G>C (p.Gln377His) | |
| 16 | g.31462582G>T | CA395733334 | ARMC5 | c.1035G>T (p.Gln345His) c.1320G>T (p.Gln440His) c.543G>T (p.Gln181His) c.213-190G>T c.1131G>T (p.Gln377His) | |
| 16 | g.31462583C>A | CA395733335 | ARMC5 | c.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 |
| 16 | g.31462583C>G | CA395733336 | ARMC5 | c.1036C>G (p.Gln346Glu) c.1321C>G (p.Gln441Glu) c.544C>G (p.Gln182Glu) c.213-189C>G c.1132C>G (p.Gln378Glu) | |
| 16 | g.31462583C>T | CA395733337 | ARMC5 | c.1036C>T (p.Gln346Ter) c.1321C>T (p.Gln441Ter) c.544C>T (p.Gln182Ter) c.213-189C>T c.1132C>T (p.Gln378Ter) | |
| 16 | g.31462584A>C | CA395733338 | ARMC5 | c.1037A>C (p.Gln346Pro) c.1322A>C (p.Gln441Pro) c.545A>C (p.Gln182Pro) c.213-188A>C c.1133A>C (p.Gln378Pro) | |
| 16 | g.31462584A>G | CA395733339 | ARMC5 | c.1037A>G (p.Gln346Arg) c.1322A>G (p.Gln441Arg) c.545A>G (p.Gln182Arg) c.213-188A>G c.1133A>G (p.Gln378Arg) | |
| 16 | g.31462584A>T | CA395733340 | ARMC5 | c.1037A>T (p.Gln346Leu) c.1322A>T (p.Gln441Leu) c.545A>T (p.Gln182Leu) c.213-188A>T c.1133A>T (p.Gln378Leu) | |
| 16 | g.31462585G>A | CA494934057 | ARMC5 | c.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 |
| 16 | g.31462585G>C | CA395733341 | ARMC5 | c.1038G>C (p.Gln346His) c.1323G>C (p.Gln441His) c.546G>C (p.Gln182His) c.213-187G>C c.1134G>C (p.Gln378His) | |
| 16 | g.31462585G>T | CA395733342 | ARMC5 | c.1038G>T (p.Gln346His) c.1323G>T (p.Gln441His) c.546G>T (p.Gln182His) c.213-187G>T c.1134G>T (p.Gln378His) | |
| 16 | g.31462586C>A | CA395733343 | ARMC5 | c.1039C>A (p.Pro347Thr) c.1324C>A (p.Pro442Thr) c.547C>A (p.Pro183Thr) c.213-186C>A c.1135C>A (p.Pro379Thr) | |
| 16 | g.31462586C= | CA2217060696 | ARMC5 | c.1039C= (p.Pro347=) c.1324C= (p.Pro442=) c.547C= (p.Pro183=) c.213-186C= c.1135C= (p.Pro379=) | |
| 16 | g.31462586C>G | CA395733344 | ARMC5 | c.1039C>G (p.Pro347Ala) c.1324C>G (p.Pro442Ala) c.547C>G (p.Pro183Ala) c.213-186C>G c.1135C>G (p.Pro379Ala) | |
| 16 | g.31462586C>T | CA8029597 | ARMC5 | c.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 |
| 16 | g.31462587C>A | CA395733345 | ARMC5 | c.1040C>A (p.Pro347His) c.1325C>A (p.Pro442His) c.548C>A (p.Pro183His) c.213-185C>A c.1136C>A (p.Pro379His) | |
| 16 | g.31462587C>G | CA395733347 | ARMC5 | c.1040C>G (p.Pro347Arg) c.1325C>G (p.Pro442Arg) c.548C>G (p.Pro183Arg) c.213-185C>G c.1136C>G (p.Pro379Arg) | |
| 16 | g.31462587C>T | CA395733346 | ARMC5 | c.1040C>T (p.Pro347Leu) c.1325C>T (p.Pro442Leu) c.548C>T (p.Pro183Leu) c.213-185C>T c.1136C>T (p.Pro379Leu) | |
| 16 | g.31462588C>A | CA494934065 | ARMC5 | c.1041C>A (p.Pro347=) c.1326C>A (p.Pro442=) c.549C>A (p.Pro183=) c.213-184C>A c.1137C>A (p.Pro379=) | |
| 16 | g.31462588C>G | CA494934066 | ARMC5 | c.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 |
| 16 | g.31462588C>T | CA494934067 | ARMC5 | c.1041C>T (p.Pro347=) c.1326C>T (p.Pro442=) c.549C>T (p.Pro183=) c.213-184C>T c.1137C>T (p.Pro379=) | |
| 16 | g.31462589C>A | CA395733348 | ARMC5 | c.1042C>A (p.Leu348Met) c.1327C>A (p.Leu443Met) c.550C>A (p.Leu184Met) c.213-183C>A c.1138C>A (p.Leu380Met) | |
| 16 | g.31462589C= | CA2217060697 | ARMC5 | c.1042C= (p.Leu348=) c.1327C= (p.Leu443=) c.550C= (p.Leu184=) c.213-183C= c.1138C= (p.Leu380=) | |
| 16 | g.31462589C>G | CA395733349 | ARMC5 | c.1042C>G (p.Leu348Val) c.1327C>G (p.Leu443Val) c.550C>G (p.Leu184Val) c.213-183C>G c.1138C>G (p.Leu380Val) | |
| 16 | g.31462589C>T | CA494934070 | ARMC5 | c.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 |
| 16 | g.31462590T>A | CA395733350 | ARMC5 | c.1043T>A (p.Leu348Gln) c.1328T>A (p.Leu443Gln) c.551T>A (p.Leu184Gln) c.213-182T>A c.1139T>A (p.Leu380Gln) | |
| 16 | g.31462590T>C | CA395733351 | ARMC5 | c.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 |
| 16 | g.31462590T>G | CA395733352 | ARMC5 | c.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 |
| 16 | g.31462590T= | CA2217060698 | ARMC5 | c.1043T= (p.Leu348=) c.1328T= (p.Leu443=) c.551T= (p.Leu184=) c.213-182T= c.1139T= (p.Leu380=) | |
| 16 | g.31462591G>A | CA494934074 | ARMC5 | c.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 |
| 16 | g.31462591G>C | CA494934072 | ARMC5 | c.1044G>C (p.Leu348=) c.1329G>C (p.Leu443=) c.552G>C (p.Leu184=) c.213-181G>C c.1140G>C (p.Leu380=) | |
| 16 | g.31462591G>T | CA494934073 | ARMC5 | c.1044G>T (p.Leu348=) c.1329G>T (p.Leu443=) c.552G>T (p.Leu184=) c.213-181G>T c.1140G>T (p.Leu380=) | |
| 16 | g.31462592G>A | CA395733353 | ARMC5 | c.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 |
| 16 | g.31462592G>C | CA395733354 | ARMC5 | c.1045G>C (p.Val349Leu) c.1330G>C (p.Val444Leu) c.553G>C (p.Val185Leu) c.213-180G>C c.1141G>C (p.Val381Leu) | |
| 16 | g.31462592G>T | CA395733355 | ARMC5 | c.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 |
| 16 | g.31462593T>A | CA395733356 | ARMC5 | c.1046T>A (p.Val349Glu) c.1331T>A (p.Val444Glu) c.554T>A (p.Val185Glu) c.213-179T>A c.1142T>A (p.Val381Glu) | |
| 16 | g.31462593T>C | CA395733357 | ARMC5 | c.1046T>C (p.Val349Ala) c.1331T>C (p.Val444Ala) c.554T>C (p.Val185Ala) c.213-179T>C c.1142T>C (p.Val381Ala) | |
| 16 | g.31462593T>G | CA395733358 | ARMC5 | c.1046T>G (p.Val349Gly) c.1331T>G (p.Val444Gly) c.554T>G (p.Val185Gly) c.213-179T>G c.1142T>G (p.Val381Gly) | |
| 16 | g.31462594G>A | CA494934080 | ARMC5 | c.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 |
| 16 | g.31462594G>C | CA494934081 | ARMC5 | c.1047G>C (p.Val349=) c.1332G>C (p.Val444=) c.555G>C (p.Val185=) c.213-178G>C c.1143G>C (p.Val381=) | |
| 16 | g.31462594G>T | CA494934082 | ARMC5 | c.1047G>T (p.Val349=) c.1332G>T (p.Val444=) c.555G>T (p.Val185=) c.213-178G>T c.1143G>T (p.Val381=) | |
| 16 | g.31462595C>A | CA494934083 | ARMC5 | c.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 |
| 16 | g.31462595C= | CA2217060699 | ARMC5 | c.1048C= (p.Arg350=) c.1333C= (p.Arg445=) c.556C= (p.Arg186=) c.213-177C= c.1144C= (p.Arg382=) | |
| 16 | g.31462595C>G | CA395733359 | ARMC5 | c.1048C>G (p.Arg350Gly) c.1333C>G (p.Arg445Gly) c.556C>G (p.Arg186Gly) c.213-177C>G c.1144C>G (p.Arg382Gly) | |
| 16 | g.31462595C>T | CA8029598 | ARMC5 | c.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 |
| 16 | g.31462596G>A | CA395733362 | ARMC5 | c.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 |
| 16 | g.31462596G>C | CA395733360 | ARMC5 | c.1049G>C (p.Arg350Pro) c.1334G>C (p.Arg445Pro) c.557G>C (p.Arg186Pro) c.213-176G>C c.1145G>C (p.Arg382Pro) | |
| 16 | g.31462596G= | CA2217060700 | ARMC5 | c.1049G= (p.Arg350=) c.1334G= (p.Arg445=) c.557G= (p.Arg186=) c.213-176G= c.1145G= (p.Arg382=) | |
| 16 | g.31462596G>T | CA395733361 | ARMC5 | c.1049G>T (p.Arg350Leu) c.1334G>T (p.Arg445Leu) c.557G>T (p.Arg186Leu) c.213-176G>T c.1145G>T (p.Arg382Leu) | |
| 16 | g.31462597G>A | CA494934086 | ARMC5 | c.1050G>A (p.Arg350=) c.1335G>A (p.Arg445=) c.558G>A (p.Arg186=) c.213-175G>A c.1146G>A (p.Arg382=) | |
| 16 | g.31462597G>C | CA494934087 | ARMC5 | c.1050G>C (p.Arg350=) c.1335G>C (p.Arg445=) c.558G>C (p.Arg186=) c.213-175G>C c.1146G>C (p.Arg382=) | |
| 16 | g.31462597G>T | CA494934088 | ARMC5 | c.1050G>T (p.Arg350=) c.1335G>T (p.Arg445=) c.558G>T (p.Arg186=) c.213-175G>T c.1146G>T (p.Arg382=) | |
| 16 | g.31462598G>A | CA395733363 | ARMC5 | c.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 |
| 16 | g.31462598G>C | CA395733364 | ARMC5 | c.1051G>C (p.Ala351Pro) c.1336G>C (p.Ala446Pro) c.559G>C (p.Ala187Pro) c.213-174G>C c.1147G>C (p.Ala383Pro) | |
| 16 | g.31462598G>T | CA395733365 | ARMC5 | c.1051G>T (p.Ala351Ser) c.1336G>T (p.Ala446Ser) c.559G>T (p.Ala187Ser) c.213-174G>T c.1147G>T (p.Ala383Ser) | |
| 16 | g.31462599C>A | CA395733366 | ARMC5 | c.1052C>A (p.Ala351Asp) c.1337C>A (p.Ala446Asp) c.560C>A (p.Ala187Asp) c.213-173C>A c.1148C>A (p.Ala383Asp) | |
| 16 | g.31462599C>G | CA395733367 | ARMC5 | c.1052C>G (p.Ala351Gly) c.1337C>G (p.Ala446Gly) c.560C>G (p.Ala187Gly) c.213-173C>G c.1148C>G (p.Ala383Gly) | |
| 16 | g.31462599C>T | CA395733368 | ARMC5 | c.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 |
| 16 | g.31462600T>A | CA494934093 | ARMC5 | c.1053T>A (p.Ala351=) c.1338T>A (p.Ala446=) c.561T>A (p.Ala187=) c.213-172T>A c.1149T>A (p.Ala383=) | |
| 16 | g.31462600T>C | CA494934094 | ARMC5 | c.1053T>C (p.Ala351=) c.1338T>C (p.Ala446=) c.561T>C (p.Ala187=) c.213-172T>C c.1149T>C (p.Ala383=) | |
| 16 | g.31462600T>G | CA494934095 | ARMC5 | c.1053T>G (p.Ala351=) c.1338T>G (p.Ala446=) c.561T>G (p.Ala187=) c.213-172T>G c.1149T>G (p.Ala383=) | |
| 16 | g.31462601G>A | CA395733369 | ARMC5 | c.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 |
| 16 | g.31462601G>C | CA395733370 | ARMC5 | c.1054G>C (p.Val352Leu) c.1339G>C (p.Val447Leu) c.562G>C (p.Val188Leu) c.213-171G>C c.1150G>C (p.Val384Leu) | |
| 16 | g.31462601G= | CA2217060701 | ARMC5 | c.1054G= (p.Val352=) c.1339G= (p.Val447=) c.562G= (p.Val188=) c.213-171G= c.1150G= (p.Val384=) | |
| 16 | g.31462601G>T | CA395733371 | ARMC5 | c.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 |
| 16 | g.31462602T>A | CA395733372 | ARMC5 | c.1055T>A (p.Val352Glu) c.1340T>A (p.Val447Glu) c.563T>A (p.Val188Glu) c.213-170T>A c.1151T>A (p.Val384Glu) | |
| 16 | g.31462602T>C | CA395733373 | ARMC5 | c.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 |
| 16 | g.31462602T>G | CA395733374 | ARMC5 | c.1055T>G (p.Val352Gly) c.1340T>G (p.Val447Gly) c.563T>G (p.Val188Gly) c.213-170T>G c.1151T>G (p.Val384Gly) | |
| 16 | g.31462603G>A | CA494934096 | ARMC5 | c.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 |
| 16 | g.31462603G>C | CA494934097 | ARMC5 | c.1056G>C (p.Val352=) c.1341G>C (p.Val447=) c.564G>C (p.Val188=) c.213-169G>C c.1152G>C (p.Val384=) | |
| 16 | g.31462603G>T | CA494934098 | ARMC5 | c.1056G>T (p.Val352=) c.1341G>T (p.Val447=) c.564G>T (p.Val188=) c.213-169G>T c.1152G>T (p.Val384=) | |
| 16 | g.31462604T>A | CA395733375 | ARMC5 | c.1057T>A (p.Cys353Ser) c.1342T>A (p.Cys448Ser) c.565T>A (p.Cys189Ser) c.213-168T>A c.1153T>A (p.Cys385Ser) | |
| 16 | g.31462604T>C | CA395733377 | ARMC5 | c.1057T>C (p.Cys353Arg) c.1342T>C (p.Cys448Arg) c.565T>C (p.Cys189Arg) c.213-168T>C c.1153T>C (p.Cys385Arg) | |
| 16 | g.31462604T>G | CA395733376 | ARMC5 | c.1057T>G (p.Cys353Gly) c.1342T>G (p.Cys448Gly) c.565T>G (p.Cys189Gly) c.213-168T>G c.1153T>G (p.Cys385Gly) | |
| 16 | g.31462605G>A | CA395733378 | ARMC5 | c.1058G>A (p.Cys353Tyr) c.1343G>A (p.Cys448Tyr) c.566G>A (p.Cys189Tyr) c.213-167G>A c.1154G>A (p.Cys385Tyr) | dbSNP |
| 16 | g.31462605G>C | CA395733379 | ARMC5 | c.1058G>C (p.Cys353Ser) c.1343G>C (p.Cys448Ser) c.566G>C (p.Cys189Ser) c.213-167G>C c.1154G>C (p.Cys385Ser) | |
| 16 | g.31462605G= | CA2217060702 | ARMC5 | c.1058G= (p.Cys353=) c.1343G= (p.Cys448=) c.566G= (p.Cys189=) c.213-167G= c.1154G= (p.Cys385=) | |
| 16 | g.31462605G>T | CA395733380 | ARMC5 | c.1058G>T (p.Cys353Phe) c.1343G>T (p.Cys448Phe) c.566G>T (p.Cys189Phe) c.213-167G>T c.1154G>T (p.Cys385Phe) | |
| 16 | g.31462606C>A | CA395733381 | ARMC5 | c.1059C>A (p.Cys353Ter) c.1344C>A (p.Cys448Ter) c.567C>A (p.Cys189Ter) c.213-166C>A c.1155C>A (p.Cys385Ter) | |
| 16 | g.31462606C= | CA2217060703 | ARMC5 | c.1059C= (p.Cys353=) c.1344C= (p.Cys448=) c.567C= (p.Cys189=) c.213-166C= c.1155C= (p.Cys385=) | |
| 16 | g.31462606C>G | CA395733382 | ARMC5 | c.1059C>G (p.Cys353Trp) c.1344C>G (p.Cys448Trp) c.567C>G (p.Cys189Trp) c.213-166C>G c.1155C>G (p.Cys385Trp) | |
| 16 | g.31462606C>T | CA494934099 | ARMC5 | c.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 |
| 16 | g.31462607C>A | CA395733383 | ARMC5 | c.1060C>A (p.Leu354Ile) c.1345C>A (p.Leu449Ile) c.568C>A (p.Leu190Ile) c.213-165C>A c.1156C>A (p.Leu386Ile) | |
| 16 | g.31462607C>G | CA395733384 | ARMC5 | c.1060C>G (p.Leu354Val) c.1345C>G (p.Leu449Val) c.568C>G (p.Leu190Val) c.213-165C>G c.1156C>G (p.Leu386Val) | |
| 16 | g.31462607C>T | CA395733385 | ARMC5 | c.1060C>T (p.Leu354Phe) c.1345C>T (p.Leu449Phe) c.568C>T (p.Leu190Phe) c.213-165C>T c.1156C>T (p.Leu386Phe) | |
| 16 | g.31462608T>A | CA395733386 | ARMC5 | c.1061T>A (p.Leu354His) c.1346T>A (p.Leu449His) c.569T>A (p.Leu190His) c.213-164T>A c.1157T>A (p.Leu386His) | |
| 16 | g.31462608T>C | CA395733387 | ARMC5 | c.1061T>C (p.Leu354Pro) c.1346T>C (p.Leu449Pro) c.569T>C (p.Leu190Pro) c.213-164T>C c.1157T>C (p.Leu386Pro) | |
| 16 | g.31462608T>G | CA395733388 | ARMC5 | c.1061T>G (p.Leu354Arg) c.1346T>G (p.Leu449Arg) c.569T>G (p.Leu190Arg) c.213-164T>G c.1157T>G (p.Leu386Arg) | |
| 16 | g.31462609C>A | CA494934100 | ARMC5 | c.1062C>A (p.Leu354=) c.1347C>A (p.Leu449=) c.570C>A (p.Leu190=) c.213-163C>A c.1158C>A (p.Leu386=) | |
| 16 | g.31462609C>G | CA494934101 | ARMC5 | c.1062C>G (p.Leu354=) c.1347C>G (p.Leu449=) c.570C>G (p.Leu190=) c.213-163C>G c.1158C>G (p.Leu386=) | |
| 16 | g.31462609C>T | CA494934102 | ARMC5 | c.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 |
| 16 | g.31462610C>A | CA395733389 | ARMC5 | c.1063C>A (p.Leu355Ile) c.1348C>A (p.Leu450Ile) c.571C>A (p.Leu191Ile) c.213-162C>A c.1159C>A (p.Leu387Ile) | |
| 16 | g.31462610C>G | CA395733390 | ARMC5 | c.1063C>G (p.Leu355Val) c.1348C>G (p.Leu450Val) c.571C>G (p.Leu191Val) c.213-162C>G c.1159C>G (p.Leu387Val) | |
| 16 | g.31462610C>T | CA494934103 | ARMC5 | c.1063C>T (p.Leu355=) c.1348C>T (p.Leu450=) c.571C>T (p.Leu191=) c.213-162C>T c.1159C>T (p.Leu387=) | |
| 16 | g.31462611T>A | CA395733393 | ARMC5 | c.1064T>A (p.Leu355Gln) c.1349T>A (p.Leu450Gln) c.572T>A (p.Leu191Gln) c.213-161T>A c.1160T>A (p.Leu387Gln) | |
| 16 | g.31462611T>C | CA395733392 | ARMC5 | c.1064T>C (p.Leu355Pro) c.1349T>C (p.Leu450Pro) c.572T>C (p.Leu191Pro) c.213-161T>C c.1160T>C (p.Leu387Pro) | |
| 16 | g.31462611T>G | CA395733391 | ARMC5 | c.1064T>G (p.Leu355Arg) c.1349T>G (p.Leu450Arg) c.572T>G (p.Leu191Arg) c.213-161T>G c.1160T>G (p.Leu387Arg) | |
| 16 | g.31462612A= | CA2217060704 | ARMC5 | c.1065A= (p.Leu355=) c.1350A= (p.Leu450=) c.573A= (p.Leu191=) c.213-160A= c.1161A= (p.Leu387=) | |
| 16 | g.31462612A>C | CA494934106 | ARMC5 | c.1065A>C (p.Leu355=) c.1350A>C (p.Leu450=) c.573A>C (p.Leu191=) c.213-160A>C c.1161A>C (p.Leu387=) | |
| 16 | g.31462612A>G | CA494934105 | ARMC5 | c.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 |
| 16 | g.31462612A>T | CA494934104 | ARMC5 | c.1065A>T (p.Leu355=) c.1350A>T (p.Leu450=) c.573A>T (p.Leu191=) c.213-160A>T c.1161A>T (p.Leu387=) | |
| 16 | g.31462613T>A | CA395733394 | ARMC5 | c.1066T>A (p.Cys356Ser) c.1351T>A (p.Cys451Ser) c.574T>A (p.Cys192Ser) c.213-159T>A c.1162T>A (p.Cys388Ser) | |
| 16 | g.31462613T>C | CA395733395 | ARMC5 | c.1066T>C (p.Cys356Arg) c.1351T>C (p.Cys451Arg) c.574T>C (p.Cys192Arg) c.213-159T>C c.1162T>C (p.Cys388Arg) | |
| 16 | g.31462613T>G | CA395733396 | ARMC5 | c.1066T>G (p.Cys356Gly) c.1351T>G (p.Cys451Gly) c.574T>G (p.Cys192Gly) c.213-159T>G c.1162T>G (p.Cys388Gly) | |
| 16 | g.31462614G>A | CA395733397 | ARMC5 | c.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 |
| 16 | g.31462614G>C | CA395733398 | ARMC5 | c.1067G>C (p.Cys356Ser) c.1352G>C (p.Cys451Ser) c.575G>C (p.Cys192Ser) c.213-158G>C c.1163G>C (p.Cys388Ser) | |
| 16 | g.31462614G>T | CA395733399 | ARMC5 | c.1067G>T (p.Cys356Phe) c.1352G>T (p.Cys451Phe) c.575G>T (p.Cys192Phe) c.213-158G>T c.1163G>T (p.Cys388Phe) | |
| 16 | g.31462615T>A | CA395733400 | ARMC5 | c.1068T>A (p.Cys356Ter) c.1353T>A (p.Cys451Ter) c.576T>A (p.Cys192Ter) c.213-157T>A c.1164T>A (p.Cys388Ter) | |
| 16 | g.31462615T>C | CA494934107 | ARMC5 | c.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 |
| 16 | g.31462615T>G | CA395733401 | ARMC5 | c.1068T>G (p.Cys356Trp) c.1353T>G (p.Cys451Trp) c.576T>G (p.Cys192Trp) c.213-157T>G c.1164T>G (p.Cys388Trp) | |
| 16 | g.31462616C>A | CA395733402 | ARMC5 | c.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 |
| 16 | g.31462616C= | CA2217060705 | ARMC5 | c.1069C= (p.Arg357=) c.1354C= (p.Arg452=) c.577C= (p.Arg193=) c.213-156C= c.1165C= (p.Arg389=) | |
| 16 | g.31462616C>G | CA395733403 | ARMC5 | c.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 |
| 16 | g.31462616C>T | CA8029599 | ARMC5 | c.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 |
| 16 | g.31462617G>A | CA8029600 | ARMC5 | c.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 |
| 16 | g.31462617G>C | CA395733404 | ARMC5 | c.1070G>C (p.Arg357Pro) c.1355G>C (p.Arg452Pro) c.578G>C (p.Arg193Pro) c.213-155G>C c.1166G>C (p.Arg389Pro) | |
| 16 | g.31462617G= | CA2217060706 | ARMC5 | c.1070G= (p.Arg357=) c.1355G= (p.Arg452=) c.578G= (p.Arg193=) c.213-155G= c.1166G= (p.Arg389=) | |
| 16 | g.31462617G>T | CA395733405 | ARMC5 | c.1070G>T (p.Arg357Leu) c.1355G>T (p.Arg452Leu) c.578G>T (p.Arg193Leu) c.213-155G>T c.1166G>T (p.Arg389Leu) | |
| 16 | g.31462617dup | CA622173977 | ARMC5 | c.1070dup (p.Glu358Ter) c.1355dup (p.Glu453Ter) c.578dup (p.Glu194Ter) c.213-155dup c.1166dup (p.Glu390Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462618T>A | CA494934108 | ARMC5 | c.1071T>A (p.Arg357=) c.1356T>A (p.Arg452=) c.579T>A (p.Arg193=) c.213-154T>A c.1167T>A (p.Arg389=) | |
| 16 | g.31462618T>C | CA494934110 | ARMC5 | c.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 |
| 16 | g.31462618T>G | CA494934109 | ARMC5 | c.1071T>G (p.Arg357=) c.1356T>G (p.Arg452=) c.579T>G (p.Arg193=) c.213-154T>G c.1167T>G (p.Arg389=) | |
| 16 | g.31462618T= | CA2217060707 | ARMC5 | c.1071T= (p.Arg357=) c.1356T= (p.Arg452=) c.579T= (p.Arg193=) c.213-154T= c.1167T= (p.Arg389=) | |
| 16 | g.31462619G>A | CA395733407 | ARMC5 | c.1072G>A (p.Glu358Lys) c.1357G>A (p.Glu453Lys) c.580G>A (p.Glu194Lys) c.213-153G>A c.1168G>A (p.Glu390Lys) | |
| 16 | g.31462619G>C | CA395733408 | ARMC5 | c.1072G>C (p.Glu358Gln) c.1357G>C (p.Glu453Gln) c.580G>C (p.Glu194Gln) c.213-153G>C c.1168G>C (p.Glu390Gln) | |
| 16 | g.31462619G>T | CA395733406 | ARMC5 | c.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 |
| 16 | g.31462620A>C | CA395733409 | ARMC5 | c.1073A>C (p.Glu358Ala) c.1358A>C (p.Glu453Ala) c.581A>C (p.Glu194Ala) c.213-152A>C c.1169A>C (p.Glu390Ala) | |
| 16 | g.31462620A>G | CA395733410 | ARMC5 | c.1073A>G (p.Glu358Gly) c.1358A>G (p.Glu453Gly) c.581A>G (p.Glu194Gly) c.213-152A>G c.1169A>G (p.Glu390Gly) | |
| 16 | g.31462620A>T | CA395733411 | ARMC5 | c.1073A>T (p.Glu358Val) c.1358A>T (p.Glu453Val) c.581A>T (p.Glu194Val) c.213-152A>T c.1169A>T (p.Glu390Val) | |
| 16 | g.31462621G>A | CA8029601 | ARMC5 | c.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 |
| 16 | g.31462621G>C | CA395733412 | ARMC5 | c.1074G>C (p.Glu358Asp) c.1359G>C (p.Glu453Asp) c.582G>C (p.Glu194Asp) c.213-151G>C c.1170G>C (p.Glu390Asp) | |
| 16 | g.31462621G= | CA2217060708 | ARMC5 | c.1074G= (p.Glu358=) c.1359G= (p.Glu453=) c.582G= (p.Glu194=) c.213-151G= c.1170G= (p.Glu390=) | |
| 16 | g.31462621G>T | CA395733413 | ARMC5 | c.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 |
| 16 | g.31462622G>A | CA395733414 | ARMC5 | c.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 |
| 16 | g.31462622G>C | CA395733415 | ARMC5 | c.1075G>C (p.Ala359Pro) c.1360G>C (p.Ala454Pro) c.583G>C (p.Ala195Pro) c.213-150G>C c.1171G>C (p.Ala391Pro) | |
| 16 | g.31462622G>T | CA395733416 | ARMC5 | c.1075G>T (p.Ala359Ser) c.1360G>T (p.Ala454Ser) c.583G>T (p.Ala195Ser) c.213-150G>T c.1171G>T (p.Ala391Ser) | |
| 16 | g.31462623C>A | CA395733417 | ARMC5 | c.1076C>A (p.Ala359Asp) c.1361C>A (p.Ala454Asp) c.584C>A (p.Ala195Asp) c.213-149C>A c.1172C>A (p.Ala391Asp) | |
| 16 | g.31462623C>G | CA395733418 | ARMC5 | c.1076C>G (p.Ala359Gly) c.1361C>G (p.Ala454Gly) c.584C>G (p.Ala195Gly) c.213-149C>G c.1172C>G (p.Ala391Gly) | |
| 16 | g.31462623C>T | CA395733419 | ARMC5 | c.1076C>T (p.Ala359Val) c.1361C>T (p.Ala454Val) c.584C>T (p.Ala195Val) c.213-149C>T c.1172C>T (p.Ala391Val) | |
| 16 | g.31462624C>A | CA494934111 | ARMC5 | c.1077C>A (p.Ala359=) c.1362C>A (p.Ala454=) c.585C>A (p.Ala195=) c.213-148C>A c.1173C>A (p.Ala391=) | |
| 16 | g.31462624C>G | CA494934112 | ARMC5 | c.1077C>G (p.Ala359=) c.1362C>G (p.Ala454=) c.585C>G (p.Ala195=) c.213-148C>G c.1173C>G (p.Ala391=) | |
| 16 | g.31462624C>T | CA494934113 | ARMC5 | c.1077C>T (p.Ala359=) c.1362C>T (p.Ala454=) c.585C>T (p.Ala195=) c.213-148C>T c.1173C>T (p.Ala391=) | |
| 16 | g.31462625A= | CA2217060709 | ARMC5 | c.1078A= (p.Ile360=) c.1363A= (p.Ile455=) c.586A= (p.Ile196=) c.213-147A= c.1174A= (p.Ile392=) | |
| 16 | g.31462625A>C | CA395733422 | ARMC5 | c.1078A>C (p.Ile360Leu) c.1363A>C (p.Ile455Leu) c.586A>C (p.Ile196Leu) c.213-147A>C c.1174A>C (p.Ile392Leu) | |
| 16 | g.31462625A>G | CA395733420 | ARMC5 | c.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 |
| 16 | g.31462625A>T | CA395733421 | ARMC5 | c.1078A>T (p.Ile360Phe) c.1363A>T (p.Ile455Phe) c.586A>T (p.Ile196Phe) c.213-147A>T c.1174A>T (p.Ile392Phe) | |
| 16 | g.31462626T>A | CA395733423 | ARMC5 | c.1079T>A (p.Ile360Asn) c.1364T>A (p.Ile455Asn) c.587T>A (p.Ile196Asn) c.213-146T>A c.1175T>A (p.Ile392Asn) | |
| 16 | g.31462626T>C | CA395733424 | ARMC5 | c.1079T>C (p.Ile360Thr) c.1364T>C (p.Ile455Thr) c.587T>C (p.Ile196Thr) c.213-146T>C c.1175T>C (p.Ile392Thr) | |
| 16 | g.31462626T>G | CA395733425 | ARMC5 | c.1079T>G (p.Ile360Ser) c.1364T>G (p.Ile455Ser) c.587T>G (p.Ile196Ser) c.213-146T>G c.1175T>G (p.Ile392Ser) | |
| 16 | g.31462627C>A | CA494934115 | ARMC5 | c.1080C>A (p.Ile360=) c.1365C>A (p.Ile455=) c.588C>A (p.Ile196=) c.213-145C>A c.1176C>A (p.Ile392=) | |
| 16 | g.31462627C>G | CA395733426 | ARMC5 | c.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 |
| 16 | g.31462627C>T | CA494934114 | ARMC5 | c.1080C>T (p.Ile360=) c.1365C>T (p.Ile455=) c.588C>T (p.Ile196=) c.213-145C>T c.1176C>T (p.Ile392=) | |
| 16 | g.31462628A>C | CA395733427 | ARMC5 | c.1081A>C (p.Asn361His) c.1366A>C (p.Asn456His) c.589A>C (p.Asn197His) c.213-144A>C c.1177A>C (p.Asn393His) | |
| 16 | g.31462628A>G | CA395733428 | ARMC5 | c.1081A>G (p.Asn361Asp) c.1366A>G (p.Asn456Asp) c.589A>G (p.Asn197Asp) c.213-144A>G c.1177A>G (p.Asn393Asp) | |
| 16 | g.31462628A>T | CA395733429 | ARMC5 | c.1081A>T (p.Asn361Tyr) c.1366A>T (p.Asn456Tyr) c.589A>T (p.Asn197Tyr) c.213-144A>T c.1177A>T (p.Asn393Tyr) | |
| 16 | g.31462629A>C | CA395733430 | ARMC5 | c.1082A>C (p.Asn361Thr) c.1367A>C (p.Asn456Thr) c.590A>C (p.Asn197Thr) c.213-143A>C c.1178A>C (p.Asn393Thr) | |
| 16 | g.31462629A>G | CA395733431 | ARMC5 | c.1082A>G (p.Asn361Ser) c.1367A>G (p.Asn456Ser) c.590A>G (p.Asn197Ser) c.213-143A>G c.1178A>G (p.Asn393Ser) | |
| 16 | g.31462629A>T | CA395733432 | ARMC5 | c.1082A>T (p.Asn361Ile) c.1367A>T (p.Asn456Ile) c.590A>T (p.Asn197Ile) c.213-143A>T c.1178A>T (p.Asn393Ile) | |
| 16 | g.31462630C>A | CA395733433 | ARMC5 | c.1083C>A (p.Asn361Lys) c.1368C>A (p.Asn456Lys) c.591C>A (p.Asn197Lys) c.213-142C>A c.1179C>A (p.Asn393Lys) | |
| 16 | g.31462630C= | CA2217060710 | ARMC5 | c.1083C= (p.Asn361=) c.1368C= (p.Asn456=) c.591C= (p.Asn197=) c.213-142C= c.1179C= (p.Asn393=) | |
| 16 | g.31462630C>G | CA395733434 | ARMC5 | c.1083C>G (p.Asn361Lys) c.1368C>G (p.Asn456Lys) c.591C>G (p.Asn197Lys) c.213-142C>G c.1179C>G (p.Asn393Lys) | |
| 16 | g.31462630C>T | CA494934116 | ARMC5 | c.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 |
| 16 | g.31462631C>A | CA494934117 | ARMC5 | c.1084C>A (p.Arg362=) c.1369C>A (p.Arg457=) c.592C>A (p.Arg198=) c.213-141C>A c.1180C>A (p.Arg394=) | |
| 16 | g.31462631C= | CA2217060711 | ARMC5 | c.1084C= (p.Arg362=) c.1369C= (p.Arg457=) c.592C= (p.Arg198=) c.213-141C= c.1180C= (p.Arg394=) | |
| 16 | g.31462631C>G | CA395733436 | ARMC5 | c.1084C>G (p.Arg362Gly) c.1369C>G (p.Arg457Gly) c.592C>G (p.Arg198Gly) c.213-141C>G c.1180C>G (p.Arg394Gly) | |
| 16 | g.31462631C>T | CA395733435 | ARMC5 | c.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 |
| 16 | g.31462632G>A | CA395733437 | ARMC5 | c.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 |
| 16 | g.31462632G>C | CA395733439 | ARMC5 | c.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 |
| 16 | g.31462632G= | CA2217060712 | ARMC5 | c.1085G= (p.Arg362=) c.1370G= (p.Arg457=) c.593G= (p.Arg198=) c.213-140G= c.1181G= (p.Arg394=) | |
| 16 | g.31462632G>T | CA395733438 | ARMC5 | c.1085G>T (p.Arg362Leu) c.1370G>T (p.Arg457Leu) c.593G>T (p.Arg198Leu) c.213-140G>T c.1181G>T (p.Arg394Leu) | |
| 16 | g.31462633G>A | CA494934118 | ARMC5 | c.1086G>A (p.Arg362=) c.1371G>A (p.Arg457=) c.594G>A (p.Arg198=) c.213-139G>A c.1182G>A (p.Arg394=) | |
| 16 | g.31462633G>C | CA494934119 | ARMC5 | c.1086G>C (p.Arg362=) c.1371G>C (p.Arg457=) c.594G>C (p.Arg198=) c.213-139G>C c.1182G>C (p.Arg394=) | |
| 16 | g.31462633G>T | CA494934120 | ARMC5 | c.1086G>T (p.Arg362=) c.1371G>T (p.Arg457=) c.594G>T (p.Arg198=) c.213-139G>T c.1182G>T (p.Arg394=) | |
| 16 | g.31462634G>A | CA395733440 | ARMC5 | c.1087G>A (p.Ala363Thr) c.1372G>A (p.Ala458Thr) c.595G>A (p.Ala199Thr) c.213-138G>A c.1183G>A (p.Ala395Thr) | |
| 16 | g.31462634G>C | CA395733442 | ARMC5 | c.1087G>C (p.Ala363Pro) c.1372G>C (p.Ala458Pro) c.595G>C (p.Ala199Pro) c.213-138G>C c.1183G>C (p.Ala395Pro) | |
| 16 | g.31462634G>T | CA395733441 | ARMC5 | c.1087G>T (p.Ala363Ser) c.1372G>T (p.Ala458Ser) c.595G>T (p.Ala199Ser) c.213-138G>T c.1183G>T (p.Ala395Ser) | |
| 16 | g.31462635C>A | CA395733443 | ARMC5 | c.1088C>A (p.Ala363Asp) c.1373C>A (p.Ala458Asp) c.596C>A (p.Ala199Asp) c.213-137C>A c.1184C>A (p.Ala395Asp) | |
| 16 | g.31462635C= | CA2217060713 | ARMC5 | c.1088C= (p.Ala363=) c.1373C= (p.Ala458=) c.596C= (p.Ala199=) c.213-137C= c.1184C= (p.Ala395=) | |
| 16 | g.31462635C>G | CA395733445 | ARMC5 | c.1088C>G (p.Ala363Gly) c.1373C>G (p.Ala458Gly) c.596C>G (p.Ala199Gly) c.213-137C>G c.1184C>G (p.Ala395Gly) | |
| 16 | g.31462635C>T | CA395733444 | ARMC5 | c.1088C>T (p.Ala363Val) c.1373C>T (p.Ala458Val) c.596C>T (p.Ala199Val) c.213-137C>T c.1184C>T (p.Ala395Val) | |
| 16 | g.31462636C>A | CA494934121 | ARMC5 | c.1089C>A (p.Ala363=) c.1374C>A (p.Ala458=) c.597C>A (p.Ala199=) c.213-136C>A c.1185C>A (p.Ala395=) | |
| 16 | g.31462636C>G | CA494934122 | ARMC5 | c.1089C>G (p.Ala363=) c.1374C>G (p.Ala458=) c.597C>G (p.Ala199=) c.213-136C>G c.1185C>G (p.Ala395=) | |
| 16 | g.31462636C>T | CA494934123 | ARMC5 | c.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 |
| 16 | g.31462637_31462643dup | CA622173978 | ARMC5 | c.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 |
| 16 | g.31462637C>A | CA494934124 | ARMC5 | c.1090C>A (p.Arg364=) c.1375C>A (p.Arg459=) c.598C>A (p.Arg200=) c.213-135C>A c.1186C>A (p.Arg396=) | |
| 16 | g.31462637C= | CA2217060714 | ARMC5 | c.1090C= (p.Arg364=) c.1375C= (p.Arg459=) c.598C= (p.Arg200=) c.213-135C= c.1186C= (p.Arg396=) | |
| 16 | g.31462637C>G | CA395733446 | ARMC5 | c.1090C>G (p.Arg364Gly) c.1375C>G (p.Arg459Gly) c.598C>G (p.Arg200Gly) c.213-135C>G c.1186C>G (p.Arg396Gly) | |
| 16 | g.31462637C>T | CA395733447 | ARMC5 | c.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 |
| 16 | g.31462638G>A | CA8029602 | ARMC5 | c.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 |
| 16 | g.31462638G>C | CA395733449 | ARMC5 | c.1091G>C (p.Arg364Pro) c.1376G>C (p.Arg459Pro) c.599G>C (p.Arg200Pro) c.213-134G>C c.1187G>C (p.Arg396Pro) | |
| 16 | g.31462638G= | CA2217060715 | ARMC5 | c.1091G= (p.Arg364=) c.1376G= (p.Arg459=) c.599G= (p.Arg200=) c.213-134G= c.1187G= (p.Arg396=) | |
| 16 | g.31462638G>T | CA395733448 | ARMC5 | c.1091G>T (p.Arg364Leu) c.1376G>T (p.Arg459Leu) c.599G>T (p.Arg200Leu) c.213-134G>T c.1187G>T (p.Arg396Leu) | dbSNP |
| 16 | g.31462639A>C | CA494934125 | ARMC5 | c.1092A>C (p.Arg364=) c.1377A>C (p.Arg459=) c.600A>C (p.Arg200=) c.213-133A>C c.1188A>C (p.Arg396=) | |
| 16 | g.31462639A>G | CA494934127 | ARMC5 | c.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 |
| 16 | g.31462639A>T | CA494934126 | ARMC5 | c.1092A>T (p.Arg364=) c.1377A>T (p.Arg459=) c.600A>T (p.Arg200=) c.213-133A>T c.1188A>T (p.Arg396=) |