| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 16 | g.31462640C>A | CA395733450 | ARMC5 | c.1093C>A (p.Leu365Met) c.1378C>A (p.Leu460Met) c.601C>A (p.Leu201Met) c.213-132C>A c.1189C>A (p.Leu397Met) | |
| 16 | g.31462640C= | CA2217060716 | ARMC5 | c.1093C= (p.Leu365=) c.1378C= (p.Leu460=) c.601C= (p.Leu201=) c.213-132C= c.1189C= (p.Leu397=) | |
| 16 | g.31462640C>G | CA395733451 | ARMC5 | c.1093C>G (p.Leu365Val) c.1378C>G (p.Leu460Val) c.601C>G (p.Leu201Val) c.213-132C>G c.1189C>G (p.Leu397Val) | |
| 16 | g.31462640C>T | CA8029603 | ARMC5 | c.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 |
| 16 | g.31462641T>A | CA395733452 | ARMC5 | c.1094T>A (p.Leu365Gln) c.1379T>A (p.Leu460Gln) c.602T>A (p.Leu201Gln) c.213-131T>A c.1190T>A (p.Leu397Gln) | |
| 16 | g.31462641T>C | CA170623 | ARMC5 | c.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 |
| 16 | g.31462641T>G | CA395733453 | ARMC5 | c.1094T>G (p.Leu365Arg) c.1379T>G (p.Leu460Arg) c.602T>G (p.Leu201Arg) c.213-131T>G c.1190T>G (p.Leu397Arg) | |
| 16 | g.31462641T= | CA2217060717 | ARMC5 | c.1094T= (p.Leu365=) c.1379T= (p.Leu460=) c.602T= (p.Leu201=) c.213-131T= c.1190T= (p.Leu397=) | |
| 16 | g.31462642G>A | CA494934128 | ARMC5 | c.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 |
| 16 | g.31462642G>C | CA494934129 | ARMC5 | c.1095G>C (p.Leu365=) c.1380G>C (p.Leu460=) c.603G>C (p.Leu201=) c.213-130G>C c.1191G>C (p.Leu397=) | |
| 16 | g.31462642G>T | CA494934130 | ARMC5 | c.1095G>T (p.Leu365=) c.1380G>T (p.Leu460=) c.603G>T (p.Leu201=) c.213-130G>T c.1191G>T (p.Leu397=) | |
| 16 | g.31462643C>A | CA494934131 | ARMC5 | c.1096C>A (p.Arg366=) c.1381C>A (p.Arg461=) c.604C>A (p.Arg202=) c.213-129C>A c.1192C>A (p.Arg398=) | |
| 16 | g.31462643C= | CA2217060718 | ARMC5 | c.1096C= (p.Arg366=) c.1381C= (p.Arg461=) c.604C= (p.Arg202=) c.213-129C= c.1192C= (p.Arg398=) | |
| 16 | g.31462643C>G | CA395733454 | ARMC5 | c.1096C>G (p.Arg366Gly) c.1381C>G (p.Arg461Gly) c.604C>G (p.Arg202Gly) c.213-129C>G c.1192C>G (p.Arg398Gly) | |
| 16 | g.31462643C>T | CA395733455 | ARMC5 | c.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 |
| 16 | g.31462644G>A | CA395733456 | ARMC5 | c.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 |
| 16 | g.31462644G>C | CA395733457 | ARMC5 | c.1097G>C (p.Arg366Pro) c.1382G>C (p.Arg461Pro) c.605G>C (p.Arg202Pro) c.213-128G>C c.1193G>C (p.Arg398Pro) | |
| 16 | g.31462644G= | CA2217060719 | ARMC5 | c.1097G= (p.Arg366=) c.1382G= (p.Arg461=) c.605G= (p.Arg202=) c.213-128G= c.1193G= (p.Arg398=) | |
| 16 | g.31462644G>T | CA395733458 | ARMC5 | c.1097G>T (p.Arg366Leu) c.1382G>T (p.Arg461Leu) c.605G>T (p.Arg202Leu) c.213-128G>T c.1193G>T (p.Arg398Leu) | |
| 16 | g.31462645G>A | CA494934132 | ARMC5 | c.1098G>A (p.Arg366=) c.1383G>A (p.Arg461=) c.606G>A (p.Arg202=) c.213-127G>A c.1194G>A (p.Arg398=) | |
| 16 | g.31462645G>C | CA494934133 | ARMC5 | c.1098G>C (p.Arg366=) c.1383G>C (p.Arg461=) c.606G>C (p.Arg202=) c.213-127G>C c.1194G>C (p.Arg398=) | |
| 16 | g.31462645G>T | CA494934134 | ARMC5 | c.1098G>T (p.Arg366=) c.1383G>T (p.Arg461=) c.606G>T (p.Arg202=) c.213-127G>T c.1194G>T (p.Arg398=) | |
| 16 | g.31462646G>A | CA395733461 | ARMC5 | c.1099G>A (p.Asp367Asn) c.1384G>A (p.Asp462Asn) c.607G>A (p.Asp203Asn) c.213-126G>A c.1195G>A (p.Asp399Asn) | |
| 16 | g.31462646G>C | CA395733460 | ARMC5 | c.1099G>C (p.Asp367His) c.1384G>C (p.Asp462His) c.607G>C (p.Asp203His) c.213-126G>C c.1195G>C (p.Asp399His) | |
| 16 | g.31462646G>T | CA395733459 | ARMC5 | c.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 |
| 16 | g.31462647A>C | CA395733462 | ARMC5 | c.1100A>C (p.Asp367Ala) c.1385A>C (p.Asp462Ala) c.608A>C (p.Asp203Ala) c.213-125A>C c.1196A>C (p.Asp399Ala) | |
| 16 | g.31462647A>G | CA395733463 | ARMC5 | c.1100A>G (p.Asp367Gly) c.1385A>G (p.Asp462Gly) c.608A>G (p.Asp203Gly) c.213-125A>G c.1196A>G (p.Asp399Gly) | |
| 16 | g.31462647A>T | CA395733464 | ARMC5 | c.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 |
| 16 | g.31462648T>A | CA395733465 | ARMC5 | c.1101T>A (p.Asp367Glu) c.1386T>A (p.Asp462Glu) c.609T>A (p.Asp203Glu) c.213-124T>A c.1197T>A (p.Asp399Glu) | |
| 16 | g.31462648T>C | CA494934135 | ARMC5 | c.1101T>C (p.Asp367=) c.1386T>C (p.Asp462=) c.609T>C (p.Asp203=) c.213-124T>C c.1197T>C (p.Asp399=) | |
| 16 | g.31462648T>G | CA395733466 | ARMC5 | c.1101T>G (p.Asp367Glu) c.1386T>G (p.Asp462Glu) c.609T>G (p.Asp203Glu) c.213-124T>G c.1197T>G (p.Asp399Glu) | |
| 16 | g.31462649G>A | CA395733467 | ARMC5 | c.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 |
| 16 | g.31462649G>C | CA395733468 | ARMC5 | c.1102G>C (p.Ala368Pro) c.1387G>C (p.Ala463Pro) c.610G>C (p.Ala204Pro) c.213-123G>C c.1198G>C (p.Ala400Pro) | |
| 16 | g.31462649G= | CA2217060720 | ARMC5 | c.1102G= (p.Ala368=) c.1387G= (p.Ala463=) c.610G= (p.Ala204=) c.213-123G= c.1198G= (p.Ala400=) | |
| 16 | g.31462649G>T | CA8029604 | ARMC5 | c.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 |
| 16 | g.31462650C>A | CA395733469 | ARMC5 | c.1103C>A (p.Ala368Asp) c.1388C>A (p.Ala463Asp) c.611C>A (p.Ala204Asp) c.213-122C>A c.1199C>A (p.Ala400Asp) | |
| 16 | g.31462650C>G | CA395733470 | ARMC5 | c.1103C>G (p.Ala368Gly) c.1388C>G (p.Ala463Gly) c.611C>G (p.Ala204Gly) c.213-122C>G c.1199C>G (p.Ala400Gly) | |
| 16 | g.31462650C>T | CA395733471 | ARMC5 | c.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 |
| 16 | g.31462651T>A | CA494934136 | ARMC5 | c.1104T>A (p.Ala368=) c.1389T>A (p.Ala463=) c.612T>A (p.Ala204=) c.213-121T>A c.1200T>A (p.Ala400=) | |
| 16 | g.31462651T>C | CA494934137 | ARMC5 | c.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 |
| 16 | g.31462651T>G | CA494934138 | ARMC5 | c.1104T>G (p.Ala368=) c.1389T>G (p.Ala463=) c.612T>G (p.Ala204=) c.213-121T>G c.1200T>G (p.Ala400=) | |
| 16 | g.31462652G>A | CA395733474 | ARMC5 | c.1105G>A (p.Gly369Ser) c.1390G>A (p.Gly464Ser) c.613G>A (p.Gly205Ser) c.213-120G>A c.1201G>A (p.Gly401Ser) | |
| 16 | g.31462652G>C | CA395733473 | ARMC5 | c.1105G>C (p.Gly369Arg) c.1390G>C (p.Gly464Arg) c.613G>C (p.Gly205Arg) c.213-120G>C c.1201G>C (p.Gly401Arg) | |
| 16 | g.31462652G>T | CA395733472 | ARMC5 | c.1105G>T (p.Gly369Cys) c.1390G>T (p.Gly464Cys) c.613G>T (p.Gly205Cys) c.213-120G>T c.1201G>T (p.Gly401Cys) | |
| 16 | g.31462653G>A | CA395733475 | ARMC5 | c.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 |
| 16 | g.31462653G>C | CA395733476 | ARMC5 | c.1106G>C (p.Gly369Ala) c.1391G>C (p.Gly464Ala) c.614G>C (p.Gly205Ala) c.213-119G>C c.1202G>C (p.Gly401Ala) | |
| 16 | g.31462653G>T | CA395733477 | ARMC5 | c.1106G>T (p.Gly369Val) c.1391G>T (p.Gly464Val) c.614G>T (p.Gly205Val) c.213-119G>T c.1202G>T (p.Gly401Val) | |
| 16 | g.31462654T>A | CA494933567 | ARMC5 | c.1107T>A (p.Gly369=) c.1392T>A (p.Gly464=) c.615T>A (p.Gly205=) c.213-118T>A c.1203T>A (p.Gly401=) | |
| 16 | g.31462654T>C | CA494933569 | ARMC5 | c.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 |
| 16 | g.31462654T>G | CA494933570 | ARMC5 | c.1107T>G (p.Gly369=) c.1392T>G (p.Gly464=) c.615T>G (p.Gly205=) c.213-118T>G c.1203T>G (p.Gly401=) | |
| 16 | g.31462654T= | CA2217060721 | ARMC5 | c.1107T= (p.Gly369=) c.1392T= (p.Gly464=) c.615T= (p.Gly205=) c.213-118T= c.1203T= (p.Gly401=) | |
| 16 | g.31462655G>A | CA395733478 | ARMC5 | c.1108G>A (p.Gly370Ser) c.1393G>A (p.Gly465Ser) c.616G>A (p.Gly206Ser) c.213-117G>A c.1204G>A (p.Gly402Ser) | |
| 16 | g.31462655G>C | CA395733479 | ARMC5 | c.1108G>C (p.Gly370Arg) c.1393G>C (p.Gly465Arg) c.616G>C (p.Gly206Arg) c.213-117G>C c.1204G>C (p.Gly402Arg) | |
| 16 | g.31462655G>T | CA395733480 | ARMC5 | c.1108G>T (p.Gly370Cys) c.1393G>T (p.Gly465Cys) c.616G>T (p.Gly206Cys) c.213-117G>T c.1204G>T (p.Gly402Cys) | |
| 16 | g.31462656G>A | CA395733481 | ARMC5 | c.1109G>A (p.Gly370Asp) c.1394G>A (p.Gly465Asp) c.617G>A (p.Gly206Asp) c.213-116G>A c.1205G>A (p.Gly402Asp) | |
| 16 | g.31462656G>C | CA395733482 | ARMC5 | c.1109G>C (p.Gly370Ala) c.1394G>C (p.Gly465Ala) c.617G>C (p.Gly206Ala) c.213-116G>C c.1205G>C (p.Gly402Ala) | |
| 16 | g.31462656G>T | CA395733483 | ARMC5 | c.1109G>T (p.Gly370Val) c.1394G>T (p.Gly465Val) c.617G>T (p.Gly206Val) c.213-116G>T c.1205G>T (p.Gly402Val) | gnomAD v4 |
| 16 | g.31462657C>A | CA494933574 | ARMC5 | c.1110C>A (p.Gly370=) c.1395C>A (p.Gly465=) c.618C>A (p.Gly206=) c.213-115C>A c.1206C>A (p.Gly402=) | |
| 16 | g.31462657C= | CA2217060722 | ARMC5 | c.1110C= (p.Gly370=) c.1395C= (p.Gly465=) c.618C= (p.Gly206=) c.213-115C= c.1206C= (p.Gly402=) | |
| 16 | g.31462657C>G | CA494933575 | ARMC5 | c.1110C>G (p.Gly370=) c.1395C>G (p.Gly465=) c.618C>G (p.Gly206=) c.213-115C>G c.1206C>G (p.Gly402=) | |
| 16 | g.31462657C>T | CA494933576 | ARMC5 | c.1110C>T (p.Gly370=) c.1395C>T (p.Gly465=) c.618C>T (p.Gly206=) c.213-115C>T c.1206C>T (p.Gly402=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462658T>A | CA395733484 | ARMC5 | c.1111T>A (p.Leu371Met) c.1396T>A (p.Leu466Met) c.619T>A (p.Leu207Met) c.213-114T>A c.1207T>A (p.Leu403Met) | |
| 16 | g.31462658T>C | CA494933581 | ARMC5 | c.1111T>C (p.Leu371=) c.1396T>C (p.Leu466=) c.619T>C (p.Leu207=) c.213-114T>C c.1207T>C (p.Leu403=) | |
| 16 | g.31462658T>G | CA395733485 | ARMC5 | c.1111T>G (p.Leu371Val) c.1396T>G (p.Leu466Val) c.619T>G (p.Leu207Val) c.213-114T>G c.1207T>G (p.Leu403Val) | |
| 16 | g.31462659T>A | CA395733488 | ARMC5 | c.1112T>A (p.Leu371Ter) c.1397T>A (p.Leu466Ter) c.620T>A (p.Leu207Ter) c.213-113T>A c.1208T>A (p.Leu403Ter) | |
| 16 | g.31462659T>C | CA395733487 | ARMC5 | c.1112T>C (p.Leu371Ser) c.1397T>C (p.Leu466Ser) c.620T>C (p.Leu207Ser) c.213-113T>C c.1208T>C (p.Leu403Ser) | |
| 16 | g.31462659T>G | CA395733486 | ARMC5 | c.1112T>G (p.Leu371Trp) c.1397T>G (p.Leu466Trp) c.620T>G (p.Leu207Trp) c.213-113T>G c.1208T>G (p.Leu403Trp) | |
| 16 | g.31462660G>A | CA494933584 | ARMC5 | c.1113G>A (p.Leu371=) c.1398G>A (p.Leu466=) c.621G>A (p.Leu207=) c.213-112G>A c.1209G>A (p.Leu403=) | |
| 16 | g.31462660G>C | CA395733489 | ARMC5 | c.1113G>C (p.Leu371Phe) c.1398G>C (p.Leu466Phe) c.621G>C (p.Leu207Phe) c.213-112G>C c.1209G>C (p.Leu403Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462660G= | CA2217060723 | ARMC5 | c.1113G= (p.Leu371=) c.1398G= (p.Leu466=) c.621G= (p.Leu207=) c.213-112G= c.1209G= (p.Leu403=) | |
| 16 | g.31462660G>T | CA395733490 | ARMC5 | c.1113G>T (p.Leu371Phe) c.1398G>T (p.Leu466Phe) c.621G>T (p.Leu207Phe) c.213-112G>T c.1209G>T (p.Leu403Phe) | |
| 16 | g.31462661G>A | CA395733491 | ARMC5 | c.1114G>A (p.Asp372Asn) c.1399G>A (p.Asp467Asn) c.622G>A (p.Asp208Asn) c.213-111G>A c.1210G>A (p.Asp404Asn) | |
| 16 | g.31462661G>C | CA395733492 | ARMC5 | c.1114G>C (p.Asp372His) c.1399G>C (p.Asp467His) c.622G>C (p.Asp208His) c.213-111G>C c.1210G>C (p.Asp404His) | |
| 16 | g.31462661G>T | CA395733493 | ARMC5 | c.1114G>T (p.Asp372Tyr) c.1399G>T (p.Asp467Tyr) c.622G>T (p.Asp208Tyr) c.213-111G>T c.1210G>T (p.Asp404Tyr) | |
| 16 | g.31462662A>C | CA395733494 | ARMC5 | c.1115A>C (p.Asp372Ala) c.1400A>C (p.Asp467Ala) c.623A>C (p.Asp208Ala) c.213-110A>C c.1211A>C (p.Asp404Ala) | |
| 16 | g.31462662A>G | CA395733495 | ARMC5 | c.1115A>G (p.Asp372Gly) c.1400A>G (p.Asp467Gly) c.623A>G (p.Asp208Gly) c.213-110A>G c.1211A>G (p.Asp404Gly) | |
| 16 | g.31462662A>T | CA395733496 | ARMC5 | c.1115A>T (p.Asp372Val) c.1400A>T (p.Asp467Val) c.623A>T (p.Asp208Val) c.213-110A>T c.1211A>T (p.Asp404Val) | |
| 16 | g.31462663T>A | CA395733497 | ARMC5 | c.1116T>A (p.Asp372Glu) c.1401T>A (p.Asp467Glu) c.624T>A (p.Asp208Glu) c.213-109T>A c.1212T>A (p.Asp404Glu) | |
| 16 | g.31462663T>C | CA494933588 | ARMC5 | c.1116T>C (p.Asp372=) c.1401T>C (p.Asp467=) c.624T>C (p.Asp208=) c.213-109T>C c.1212T>C (p.Asp404=) | |
| 16 | g.31462663T>G | CA395733498 | ARMC5 | c.1116T>G (p.Asp372Glu) c.1401T>G (p.Asp467Glu) c.624T>G (p.Asp208Glu) c.213-109T>G c.1212T>G (p.Asp404Glu) | |
| 16 | g.31462664C>A | CA395733499 | ARMC5 | c.1117C>A (p.Leu373Ile) c.1402C>A (p.Leu468Ile) c.625C>A (p.Leu209Ile) c.213-108C>A c.1213C>A (p.Leu405Ile) | |
| 16 | g.31462664C>G | CA395733500 | ARMC5 | c.1117C>G (p.Leu373Val) c.1402C>G (p.Leu468Val) c.625C>G (p.Leu209Val) c.213-108C>G c.1213C>G (p.Leu405Val) | |
| 16 | g.31462664C>T | CA494933589 | ARMC5 | c.1117C>T (p.Leu373=) c.1402C>T (p.Leu468=) c.625C>T (p.Leu209=) c.213-108C>T c.1213C>T (p.Leu405=) | |
| 16 | g.31462665T>A | CA395733503 | ARMC5 | c.1118T>A (p.Leu373Gln) c.1403T>A (p.Leu468Gln) c.626T>A (p.Leu209Gln) c.213-107T>A c.1214T>A (p.Leu405Gln) | |
| 16 | g.31462665T>C | CA395733502 | ARMC5 | c.1118T>C (p.Leu373Pro) c.1403T>C (p.Leu468Pro) c.626T>C (p.Leu209Pro) c.213-107T>C c.1214T>C (p.Leu405Pro) | |
| 16 | g.31462665T>G | CA395733501 | ARMC5 | c.1118T>G (p.Leu373Arg) c.1403T>G (p.Leu468Arg) c.626T>G (p.Leu209Arg) c.213-107T>G c.1214T>G (p.Leu405Arg) | |
| 16 | g.31462666A>C | CA494933592 | ARMC5 | c.1119A>C (p.Leu373=) c.1404A>C (p.Leu468=) c.627A>C (p.Leu209=) c.213-106A>C c.1215A>C (p.Leu405=) | |
| 16 | g.31462666A>G | CA494933593 | ARMC5 | c.1119A>G (p.Leu373=) c.1404A>G (p.Leu468=) c.627A>G (p.Leu209=) c.213-106A>G c.1215A>G (p.Leu405=) | gnomAD v4 |
| 16 | g.31462666A>T | CA494933594 | ARMC5 | c.1119A>T (p.Leu373=) c.1404A>T (p.Leu468=) c.627A>T (p.Leu209=) c.213-106A>T c.1215A>T (p.Leu405=) | |
| 16 | g.31462667C>A | CA395733504 | ARMC5 | c.1120C>A (p.Leu374Met) c.1405C>A (p.Leu469Met) c.628C>A (p.Leu210Met) c.213-105C>A c.1216C>A (p.Leu406Met) | |
| 16 | g.31462667C>G | CA395733505 | ARMC5 | c.1120C>G (p.Leu374Val) c.1405C>G (p.Leu469Val) c.628C>G (p.Leu210Val) c.213-105C>G c.1216C>G (p.Leu406Val) | |
| 16 | g.31462667C>T | CA494933595 | ARMC5 | c.1120C>T (p.Leu374=) c.1405C>T (p.Leu469=) c.628C>T (p.Leu210=) c.213-105C>T c.1216C>T (p.Leu406=) | |
| 16 | g.31462668T>A | CA395733506 | ARMC5 | c.1121T>A (p.Leu374Gln) c.1406T>A (p.Leu469Gln) c.629T>A (p.Leu210Gln) c.213-104T>A c.1217T>A (p.Leu406Gln) | |
| 16 | g.31462668T>C | CA395733507 | ARMC5 | c.1121T>C (p.Leu374Pro) c.1406T>C (p.Leu469Pro) c.629T>C (p.Leu210Pro) c.213-104T>C c.1217T>C (p.Leu406Pro) | |
| 16 | g.31462668T>G | CA395733508 | ARMC5 | c.1121T>G (p.Leu374Arg) c.1406T>G (p.Leu469Arg) c.629T>G (p.Leu210Arg) c.213-104T>G c.1217T>G (p.Leu406Arg) | |
| 16 | g.31462669G>A | CA494933599 | ARMC5 | c.1122G>A (p.Leu374=) c.1407G>A (p.Leu469=) c.630G>A (p.Leu210=) c.213-103G>A c.1218G>A (p.Leu406=) | gnomAD v4 |
| 16 | g.31462669G>C | CA494933602 | ARMC5 | c.1122G>C (p.Leu374=) c.1407G>C (p.Leu469=) c.630G>C (p.Leu210=) c.213-103G>C c.1218G>C (p.Leu406=) | |
| 16 | g.31462669G>T | CA494933601 | ARMC5 | c.1122G>T (p.Leu374=) c.1407G>T (p.Leu469=) c.630G>T (p.Leu210=) c.213-103G>T c.1218G>T (p.Leu406=) | |
| 16 | g.31462670A>C | CA395733509 | ARMC5 | c.1123A>C (p.Met375Leu) c.1408A>C (p.Met470Leu) c.631A>C (p.Met211Leu) c.213-102A>C c.1219A>C (p.Met407Leu) | |
| 16 | g.31462670A>G | CA395733510 | ARMC5 | c.1123A>G (p.Met375Val) c.1408A>G (p.Met470Val) c.631A>G (p.Met211Val) c.213-102A>G c.1219A>G (p.Met407Val) | |
| 16 | g.31462670A>T | CA395733511 | ARMC5 | c.1123A>T (p.Met375Leu) c.1408A>T (p.Met470Leu) c.631A>T (p.Met211Leu) c.213-102A>T c.1219A>T (p.Met407Leu) | |
| 16 | g.31462671T>A | CA395733512 | ARMC5 | c.1124T>A (p.Met375Lys) c.1409T>A (p.Met470Lys) c.632T>A (p.Met211Lys) c.213-101T>A c.1220T>A (p.Met407Lys) | |
| 16 | g.31462671T>C | CA395733513 | ARMC5 | c.1124T>C (p.Met375Thr) c.1409T>C (p.Met470Thr) c.632T>C (p.Met211Thr) c.213-101T>C c.1220T>C (p.Met407Thr) | |
| 16 | g.31462671T>G | CA395733514 | ARMC5 | c.1124T>G (p.Met375Arg) c.1409T>G (p.Met470Arg) c.632T>G (p.Met211Arg) c.213-101T>G c.1220T>G (p.Met407Arg) | |
| 16 | g.31462672G>A | CA395733515 | ARMC5 | c.1125G>A (p.Met375Ile) c.1410G>A (p.Met470Ile) c.633G>A (p.Met211Ile) c.213-100G>A c.1221G>A (p.Met407Ile) | |
| 16 | g.31462672G>C | CA395733516 | ARMC5 | c.1125G>C (p.Met375Ile) c.1410G>C (p.Met470Ile) c.633G>C (p.Met211Ile) c.213-100G>C c.1221G>C (p.Met407Ile) | |
| 16 | g.31462672G>T | CA395733517 | ARMC5 | c.1125G>T (p.Met375Ile) c.1410G>T (p.Met470Ile) c.633G>T (p.Met211Ile) c.213-100G>T c.1221G>T (p.Met407Ile) | |
| 16 | g.31462673G>A | CA395733518 | ARMC5 | c.1126G>A (p.Gly376Ser) c.1411G>A (p.Gly471Ser) c.634G>A (p.Gly212Ser) c.213-99G>A c.1222G>A (p.Gly408Ser) | |
| 16 | g.31462673G>C | CA395733520 | ARMC5 | c.1126G>C (p.Gly376Arg) c.1411G>C (p.Gly471Arg) c.634G>C (p.Gly212Arg) c.213-99G>C c.1222G>C (p.Gly408Arg) | |
| 16 | g.31462673G>T | CA395733519 | ARMC5 | c.1126G>T (p.Gly376Cys) c.1411G>T (p.Gly471Cys) c.634G>T (p.Gly212Cys) c.213-99G>T c.1222G>T (p.Gly408Cys) | |
| 16 | g.31462674G>A | CA395733521 | ARMC5 | c.1127G>A (p.Gly376Asp) c.1412G>A (p.Gly471Asp) c.635G>A (p.Gly212Asp) c.213-98G>A c.1223G>A (p.Gly408Asp) | COSMIC COSMIC |
| 16 | g.31462674G>C | CA280639951 | ARMC5 | c.1127G>C (p.Gly376Ala) c.1412G>C (p.Gly471Ala) c.635G>C (p.Gly212Ala) c.213-98G>C c.1223G>C (p.Gly408Ala) | dbSNP |
| 16 | g.31462674G= | CA2217060724 | ARMC5 | c.1127G= (p.Gly376=) c.1412G= (p.Gly471=) c.635G= (p.Gly212=) c.213-98G= c.1223G= (p.Gly408=) | |
| 16 | g.31462674G>T | CA395733522 | ARMC5 | c.1127G>T (p.Gly376Val) c.1412G>T (p.Gly471Val) c.635G>T (p.Gly212Val) c.213-98G>T c.1223G>T (p.Gly408Val) | |
| 16 | g.31462675C>A | CA494933611 | ARMC5 | c.1128C>A (p.Gly376=) c.1413C>A (p.Gly471=) c.636C>A (p.Gly212=) c.213-97C>A c.1224C>A (p.Gly408=) | gnomAD v4 |
| 16 | g.31462675C>G | CA494933612 | ARMC5 | c.1128C>G (p.Gly376=) c.1413C>G (p.Gly471=) c.636C>G (p.Gly212=) c.213-97C>G c.1224C>G (p.Gly408=) | |
| 16 | g.31462675C>T | CA494933613 | ARMC5 | c.1128C>T (p.Gly376=) c.1413C>T (p.Gly471=) c.636C>T (p.Gly212=) c.213-97C>T c.1224C>T (p.Gly408=) | |
| 16 | g.31462676C>A | CA395733523 | ARMC5 | c.1129C>A (p.Leu377Met) c.1414C>A (p.Leu472Met) c.637C>A (p.Leu213Met) c.213-96C>A c.1225C>A (p.Leu409Met) | |
| 16 | g.31462676C= | CA2217060725 | ARMC5 | c.1129C= (p.Leu377=) c.1414C= (p.Leu472=) c.637C= (p.Leu213=) c.213-96C= c.1225C= (p.Leu409=) | |
| 16 | g.31462676C>G | CA395733524 | ARMC5 | c.1129C>G (p.Leu377Val) c.1414C>G (p.Leu472Val) c.637C>G (p.Leu213Val) c.213-96C>G c.1225C>G (p.Leu409Val) | gnomAD v4 |
| 16 | g.31462676C>T | CA494933614 | ARMC5 | c.1129C>T (p.Leu377=) c.1414C>T (p.Leu472=) c.637C>T (p.Leu213=) c.213-96C>T c.1225C>T (p.Leu409=) | dbSNP gnomAD v4 |
| 16 | g.31462677T>A | CA395733525 | ARMC5 | c.1130T>A (p.Leu377Gln) c.1415T>A (p.Leu472Gln) c.638T>A (p.Leu213Gln) c.213-95T>A c.1226T>A (p.Leu409Gln) | |
| 16 | g.31462677T>C | CA395733526 | ARMC5 | c.1130T>C (p.Leu377Pro) c.1415T>C (p.Leu472Pro) c.638T>C (p.Leu213Pro) c.213-95T>C c.1226T>C (p.Leu409Pro) | |
| 16 | g.31462677T>G | CA395733527 | ARMC5 | c.1130T>G (p.Leu377Arg) c.1415T>G (p.Leu472Arg) c.638T>G (p.Leu213Arg) c.213-95T>G c.1226T>G (p.Leu409Arg) | |
| 16 | g.31462678G>A | CA494933618 | ARMC5 | c.1131G>A (p.Leu377=) c.1416G>A (p.Leu472=) c.639G>A (p.Leu213=) c.213-94G>A c.1227G>A (p.Leu409=) | |
| 16 | g.31462678G>C | CA494933619 | ARMC5 | c.1131G>C (p.Leu377=) c.1416G>C (p.Leu472=) c.639G>C (p.Leu213=) c.213-94G>C c.1227G>C (p.Leu409=) | |
| 16 | g.31462678G>T | CA494933621 | ARMC5 | c.1131G>T (p.Leu377=) c.1416G>T (p.Leu472=) c.639G>T (p.Leu213=) c.213-94G>T c.1227G>T (p.Leu409=) | dbSNP |
| 16 | g.31462679C>A | CA395733528 | ARMC5 | c.1132C>A (p.Leu378Met) c.1417C>A (p.Leu473Met) c.640C>A (p.Leu214Met) c.213-93C>A c.1228C>A (p.Leu410Met) | |
| 16 | g.31462679C>G | CA395733529 | ARMC5 | c.1132C>G (p.Leu378Val) c.1417C>G (p.Leu473Val) c.640C>G (p.Leu214Val) c.213-93C>G c.1228C>G (p.Leu410Val) | |
| 16 | g.31462679C>T | CA494933622 | ARMC5 | c.1132C>T (p.Leu378=) c.1417C>T (p.Leu473=) c.640C>T (p.Leu214=) c.213-93C>T c.1228C>T (p.Leu410=) | |
| 16 | g.31462680T>A | CA395733531 | ARMC5 | c.1133T>A (p.Leu378Gln) c.1418T>A (p.Leu473Gln) c.641T>A (p.Leu214Gln) c.213-92T>A c.1229T>A (p.Leu410Gln) | |
| 16 | g.31462680T>C | CA395733532 | ARMC5 | c.1133T>C (p.Leu378Pro) c.1418T>C (p.Leu473Pro) c.641T>C (p.Leu214Pro) c.213-92T>C c.1229T>C (p.Leu410Pro) | gnomAD v4 |
| 16 | g.31462680T>G | CA395733530 | ARMC5 | c.1133T>G (p.Leu378Arg) c.1418T>G (p.Leu473Arg) c.641T>G (p.Leu214Arg) c.213-92T>G c.1229T>G (p.Leu410Arg) | |
| 16 | g.31462681G>A | CA494933626 | ARMC5 | c.1134G>A (p.Leu378=) c.1419G>A (p.Leu473=) c.642G>A (p.Leu214=) c.213-91G>A c.1230G>A (p.Leu410=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462681G>C | CA494933627 | ARMC5 | c.1134G>C (p.Leu378=) c.1419G>C (p.Leu473=) c.642G>C (p.Leu214=) c.213-91G>C c.1230G>C (p.Leu410=) | |
| 16 | g.31462681G= | CA2217060726 | ARMC5 | c.1134G= (p.Leu378=) c.1419G= (p.Leu473=) c.642G= (p.Leu214=) c.213-91G= c.1230G= (p.Leu410=) | |
| 16 | g.31462681G>T | CA280639955 | ARMC5 | c.1134G>T (p.Leu378=) c.1419G>T (p.Leu473=) c.642G>T (p.Leu214=) c.213-91G>T c.1230G>T (p.Leu410=) | dbSNP gnomAD v4 |
| 16 | g.31462682C>A | CA494933628 | ARMC5 | c.1135C>A (p.Arg379=) c.1420C>A (p.Arg474=) c.643C>A (p.Arg215=) c.213-90C>A c.1231C>A (p.Arg411=) | |
| 16 | g.31462682C= | CA2217060727 | ARMC5 | c.1135C= (p.Arg379=) c.1420C= (p.Arg474=) c.643C= (p.Arg215=) c.213-90C= c.1231C= (p.Arg411=) | |
| 16 | g.31462682C>G | CA395733533 | ARMC5 | c.1135C>G (p.Arg379Gly) c.1420C>G (p.Arg474Gly) c.643C>G (p.Arg215Gly) c.213-90C>G c.1231C>G (p.Arg411Gly) | |
| 16 | g.31462682C>T | CA8029605 | ARMC5 | c.1135C>T (p.Arg379Trp) c.1420C>T (p.Arg474Trp) c.643C>T (p.Arg215Trp) c.213-90C>T c.1231C>T (p.Arg411Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462683G>A | CA8029606 | ARMC5 | c.1136G>A (p.Arg379Gln) c.1421G>A (p.Arg474Gln) c.644G>A (p.Arg215Gln) c.213-89G>A c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462683G>C | CA395733534 | ARMC5 | c.1136G>C (p.Arg379Pro) c.1421G>C (p.Arg474Pro) c.644G>C (p.Arg215Pro) c.213-89G>C c.1232G>C (p.Arg411Pro) | |
| 16 | g.31462683G= | CA2217060728 | ARMC5 | c.1136G= (p.Arg379=) c.1421G= (p.Arg474=) c.644G= (p.Arg215=) c.213-89G= c.1232G= (p.Arg411=) | |
| 16 | g.31462683G>T | CA395733535 | ARMC5 | c.1136G>T (p.Arg379Leu) c.1421G>T (p.Arg474Leu) c.644G>T (p.Arg215Leu) c.213-89G>T c.1232G>T (p.Arg411Leu) | |
| 16 | g.31462684G>A | CA494933629 | ARMC5 | c.1137G>A (p.Arg379=) c.1422G>A (p.Arg474=) c.645G>A (p.Arg215=) c.213-88G>A c.1233G>A (p.Arg411=) | |
| 16 | g.31462684G>C | CA494933630 | ARMC5 | c.1137G>C (p.Arg379=) c.1422G>C (p.Arg474=) c.645G>C (p.Arg215=) c.213-88G>C c.1233G>C (p.Arg411=) | |
| 16 | g.31462684G>T | CA494933631 | ARMC5 | c.1137G>T (p.Arg379=) c.1422G>T (p.Arg474=) c.645G>T (p.Arg215=) c.213-88G>T c.1233G>T (p.Arg411=) | |
| 16 | g.31462685G>A | CA395733538 | ARMC5 | c.1138G>A (p.Asp380Asn) c.1423G>A (p.Asp475Asn) c.646G>A (p.Asp216Asn) c.213-87G>A c.1234G>A (p.Asp412Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462685G>C | CA395733536 | ARMC5 | c.1138G>C (p.Asp380His) c.1423G>C (p.Asp475His) c.646G>C (p.Asp216His) c.213-87G>C c.1234G>C (p.Asp412His) | |
| 16 | g.31462685G= | CA2217060729 | ARMC5 | c.1138G= (p.Asp380=) c.1423G= (p.Asp475=) c.646G= (p.Asp216=) c.213-87G= c.1234G= (p.Asp412=) | |
| 16 | g.31462685G>T | CA395733537 | ARMC5 | c.1138G>T (p.Asp380Tyr) c.1423G>T (p.Asp475Tyr) c.646G>T (p.Asp216Tyr) c.213-87G>T c.1234G>T (p.Asp412Tyr) | |
| 16 | g.31462686A>C | CA395733539 | ARMC5 | c.1139A>C (p.Asp380Ala) c.1424A>C (p.Asp475Ala) c.647A>C (p.Asp216Ala) c.213-86A>C c.1235A>C (p.Asp412Ala) | |
| 16 | g.31462686A>G | CA395733540 | ARMC5 | c.1139A>G (p.Asp380Gly) c.1424A>G (p.Asp475Gly) c.647A>G (p.Asp216Gly) c.213-86A>G c.1235A>G (p.Asp412Gly) | |
| 16 | g.31462686A>T | CA395733541 | ARMC5 | c.1139A>T (p.Asp380Val) c.1424A>T (p.Asp475Val) c.647A>T (p.Asp216Val) c.213-86A>T c.1235A>T (p.Asp412Val) | |
| 16 | g.31462687C>A | CA395733542 | ARMC5 | c.1140C>A (p.Asp380Glu) c.1425C>A (p.Asp475Glu) c.648C>A (p.Asp216Glu) c.213-85C>A c.1236C>A (p.Asp412Glu) | |
| 16 | g.31462687C>G | CA395733543 | ARMC5 | c.1140C>G (p.Asp380Glu) c.1425C>G (p.Asp475Glu) c.648C>G (p.Asp216Glu) c.213-85C>G c.1236C>G (p.Asp412Glu) | |
| 16 | g.31462687C>T | CA494933633 | ARMC5 | c.1140C>T (p.Asp380=) c.1425C>T (p.Asp475=) c.648C>T (p.Asp216=) c.213-85C>T c.1236C>T (p.Asp412=) | |
| 16 | g.31462688C>A | CA395733544 | ARMC5 | c.1141C>A (p.Pro381Thr) c.1426C>A (p.Pro476Thr) c.649C>A (p.Pro217Thr) c.213-84C>A c.1237C>A (p.Pro413Thr) | |
| 16 | g.31462688C>G | CA395733546 | ARMC5 | c.1141C>G (p.Pro381Ala) c.1426C>G (p.Pro476Ala) c.649C>G (p.Pro217Ala) c.213-84C>G c.1237C>G (p.Pro413Ala) | |
| 16 | g.31462688C>T | CA395733545 | ARMC5 | c.1141C>T (p.Pro381Ser) c.1426C>T (p.Pro476Ser) c.649C>T (p.Pro217Ser) c.213-84C>T c.1237C>T (p.Pro413Ser) | |
| 16 | g.31462689C>A | CA395733547 | ARMC5 | c.1142C>A (p.Pro381His) c.1427C>A (p.Pro476His) c.650C>A (p.Pro217His) c.213-83C>A c.1238C>A (p.Pro413His) | |
| 16 | g.31462689C>G | CA395733548 | ARMC5 | c.1142C>G (p.Pro381Arg) c.1427C>G (p.Pro476Arg) c.650C>G (p.Pro217Arg) c.213-83C>G c.1238C>G (p.Pro413Arg) | |
| 16 | g.31462689C>T | CA395733549 | ARMC5 | c.1142C>T (p.Pro381Leu) c.1427C>T (p.Pro476Leu) c.650C>T (p.Pro217Leu) c.213-83C>T c.1238C>T (p.Pro413Leu) | |
| 16 | g.31462690T>A | CA494933639 | ARMC5 | c.1143T>A (p.Pro381=) c.1428T>A (p.Pro476=) c.651T>A (p.Pro217=) c.213-82T>A c.1239T>A (p.Pro413=) | |
| 16 | g.31462690T>C | CA494933638 | ARMC5 | c.1143T>C (p.Pro381=) c.1428T>C (p.Pro476=) c.651T>C (p.Pro217=) c.213-82T>C c.1239T>C (p.Pro413=) | |
| 16 | g.31462690T>G | CA494933637 | ARMC5 | c.1143T>G (p.Pro381=) c.1428T>G (p.Pro476=) c.651T>G (p.Pro217=) c.213-82T>G c.1239T>G (p.Pro413=) | |
| 16 | g.31462691C>A | CA395733550 | ARMC5 | c.1144C>A (p.Arg382Ser) c.1429C>A (p.Arg477Ser) c.652C>A (p.Arg218Ser) c.213-81C>A c.1240C>A (p.Arg414Ser) | |
| 16 | g.31462691C= | CA2217060730 | ARMC5 | c.1144C= (p.Arg382=) c.1429C= (p.Arg477=) c.652C= (p.Arg218=) c.213-81C= c.1240C= (p.Arg414=) | |
| 16 | g.31462691C>G | CA8029607 | ARMC5 | c.1144C>G (p.Arg382Gly) c.1429C>G (p.Arg477Gly) c.652C>G (p.Arg218Gly) c.213-81C>G c.1240C>G (p.Arg414Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462691C>T | CA8029608 | ARMC5 | c.1144C>T (p.Arg382Cys) c.1429C>T (p.Arg477Cys) c.652C>T (p.Arg218Cys) c.213-81C>T c.1240C>T (p.Arg414Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462692G>A | CA8029609 | ARMC5 | c.1145G>A (p.Arg382His) c.1430G>A (p.Arg477His) c.653G>A (p.Arg218His) c.213-80G>A c.1241G>A (p.Arg414His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462692G>C | CA395733554 | ARMC5 | c.1145G>C (p.Arg382Pro) c.1430G>C (p.Arg477Pro) c.653G>C (p.Arg218Pro) c.213-80G>C c.1241G>C (p.Arg414Pro) | |
| 16 | g.31462692G= | CA2217060731 | ARMC5 | c.1145G= (p.Arg382=) c.1430G= (p.Arg477=) c.653G= (p.Arg218=) c.213-80G= c.1241G= (p.Arg414=) | |
| 16 | g.31462692G>T | CA395733555 | ARMC5 | c.1145G>T (p.Arg382Leu) c.1430G>T (p.Arg477Leu) c.653G>T (p.Arg218Leu) c.213-80G>T c.1241G>T (p.Arg414Leu) | |
| 16 | g.31462693T>A | CA494933645 | ARMC5 | c.1146T>A (p.Arg382=) c.1431T>A (p.Arg477=) c.654T>A (p.Arg218=) c.213-79T>A c.1242T>A (p.Arg414=) | |
| 16 | g.31462693T>C | CA494933646 | ARMC5 | c.1146T>C (p.Arg382=) c.1431T>C (p.Arg477=) c.654T>C (p.Arg218=) c.213-79T>C c.1242T>C (p.Arg414=) | |
| 16 | g.31462693T>G | CA494933647 | ARMC5 | c.1146T>G (p.Arg382=) c.1431T>G (p.Arg477=) c.654T>G (p.Arg218=) c.213-79T>G c.1242T>G (p.Arg414=) | |
| 16 | g.31462694G>A | CA280639977 | ARMC5 | c.1147G>A (p.Ala383Thr) c.1432G>A (p.Ala478Thr) c.655G>A (p.Ala219Thr) c.213-78G>A c.1243G>A (p.Ala415Thr) | dbSNP gnomAD v4 |
| 16 | g.31462694G>C | CA395733559 | ARMC5 | c.1147G>C (p.Ala383Pro) c.1432G>C (p.Ala478Pro) c.655G>C (p.Ala219Pro) c.213-78G>C c.1243G>C (p.Ala415Pro) | |
| 16 | g.31462694G= | CA2217060732 | ARMC5 | c.1147G= (p.Ala383=) c.1432G= (p.Ala478=) c.655G= (p.Ala219=) c.213-78G= c.1243G= (p.Ala415=) | |
| 16 | g.31462694G>T | CA395733561 | ARMC5 | c.1147G>T (p.Ala383Ser) c.1432G>T (p.Ala478Ser) c.655G>T (p.Ala219Ser) c.213-78G>T c.1243G>T (p.Ala415Ser) | |
| 16 | g.31462695C>A | CA395733565 | ARMC5 | c.1148C>A (p.Ala383Glu) c.1433C>A (p.Ala478Glu) c.656C>A (p.Ala219Glu) c.213-77C>A c.1244C>A (p.Ala415Glu) | |
| 16 | g.31462695C= | CA2217060733 | ARMC5 | c.1148C= (p.Ala383=) c.1433C= (p.Ala478=) c.656C= (p.Ala219=) c.213-77C= c.1244C= (p.Ala415=) | |
| 16 | g.31462695C>G | CA395733567 | ARMC5 | c.1148C>G (p.Ala383Gly) c.1433C>G (p.Ala478Gly) c.656C>G (p.Ala219Gly) c.213-77C>G c.1244C>G (p.Ala415Gly) | |
| 16 | g.31462695C>T | CA395733563 | ARMC5 | c.1148C>T (p.Ala383Val) c.1433C>T (p.Ala478Val) c.656C>T (p.Ala219Val) c.213-77C>T c.1244C>T (p.Ala415Val) | dbSNP gnomAD v4 |
| 16 | g.31462696A= | CA2217060734 | ARMC5 | c.1149A= (p.Ala383=) c.1434A= (p.Ala478=) c.657A= (p.Ala219=) c.213-76A= c.1245A= (p.Ala415=) | |
| 16 | g.31462696A>C | CA494933649 | ARMC5 | c.1149A>C (p.Ala383=) c.1434A>C (p.Ala478=) c.657A>C (p.Ala219=) c.213-76A>C c.1245A>C (p.Ala415=) | gnomAD v4 |
| 16 | g.31462696A>G | CA8029610 | ARMC5 | c.1149A>G (p.Ala383=) c.1434A>G (p.Ala478=) c.657A>G (p.Ala219=) c.213-76A>G c.1245A>G (p.Ala415=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462696A>T | CA494933650 | ARMC5 | c.1149A>T (p.Ala383=) c.1434A>T (p.Ala478=) c.657A>T (p.Ala219=) c.213-76A>T c.1245A>T (p.Ala415=) | |
| 16 | g.31462697A>C | CA395733571 | ARMC5 | c.1150A>C (p.Ser384Arg) c.1435A>C (p.Ser479Arg) c.658A>C (p.Ser220Arg) c.213-75A>C c.1246A>C (p.Ser416Arg) | |
| 16 | g.31462697A>G | CA395733575 | ARMC5 | c.1150A>G (p.Ser384Gly) c.1435A>G (p.Ser479Gly) c.658A>G (p.Ser220Gly) c.213-75A>G c.1246A>G (p.Ser416Gly) | dbSNP |
| 16 | g.31462697A>T | CA395733573 | ARMC5 | c.1150A>T (p.Ser384Cys) c.1435A>T (p.Ser479Cys) c.658A>T (p.Ser220Cys) c.213-75A>T c.1246A>T (p.Ser416Cys) | |
| 16 | g.31462698G>A | CA395733578 | ARMC5 | c.1151G>A (p.Ser384Asn) c.1436G>A (p.Ser479Asn) c.659G>A (p.Ser220Asn) c.213-74G>A c.1247G>A (p.Ser416Asn) | gnomAD v4 |
| 16 | g.31462698G>C | CA395733579 | ARMC5 | c.1151G>C (p.Ser384Thr) c.1436G>C (p.Ser479Thr) c.659G>C (p.Ser220Thr) c.213-74G>C c.1247G>C (p.Ser416Thr) | |
| 16 | g.31462698G>T | CA395733581 | ARMC5 | c.1151G>T (p.Ser384Ile) c.1436G>T (p.Ser479Ile) c.659G>T (p.Ser220Ile) c.213-74G>T c.1247G>T (p.Ser416Ile) | |
| 16 | g.31462699C>A | CA395733583 | ARMC5 | c.1152C>A (p.Ser384Arg) c.1437C>A (p.Ser479Arg) c.660C>A (p.Ser220Arg) c.213-73C>A c.1248C>A (p.Ser416Arg) | |
| 16 | g.31462699C= | CA2217060735 | ARMC5 | c.1152C= (p.Ser384=) c.1437C= (p.Ser479=) c.660C= (p.Ser220=) c.213-73C= c.1248C= (p.Ser416=) | |
| 16 | g.31462699C>G | CA395733584 | ARMC5 | c.1152C>G (p.Ser384Arg) c.1437C>G (p.Ser479Arg) c.660C>G (p.Ser220Arg) c.213-73C>G c.1248C>G (p.Ser416Arg) | |
| 16 | g.31462699C>T | CA8029611 | ARMC5 | c.1152C>T (p.Ser384=) c.1437C>T (p.Ser479=) c.660C>T (p.Ser220=) c.213-73C>T c.1248C>T (p.Ser416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462700G>A | CA8029612 | ARMC5 | c.1153G>A (p.Ala385Thr) c.1438G>A (p.Ala480Thr) c.661G>A (p.Ala221Thr) c.213-72G>A c.1249G>A (p.Ala417Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462700G>C | CA395733588 | ARMC5 | c.1153G>C (p.Ala385Pro) c.1438G>C (p.Ala480Pro) c.661G>C (p.Ala221Pro) c.213-72G>C c.1249G>C (p.Ala417Pro) | |
| 16 | g.31462700G= | CA2217060736 | ARMC5 | c.1153G= (p.Ala385=) c.1438G= (p.Ala480=) c.661G= (p.Ala221=) c.213-72G= c.1249G= (p.Ala417=) | |
| 16 | g.31462700G>T | CA395733590 | ARMC5 | c.1153G>T (p.Ala385Ser) c.1438G>T (p.Ala480Ser) c.661G>T (p.Ala221Ser) c.213-72G>T c.1249G>T (p.Ala417Ser) | ClinVar |
| 16 | g.31462701C>A | CA395733593 | ARMC5 | c.1154C>A (p.Ala385Glu) c.1439C>A (p.Ala480Glu) c.662C>A (p.Ala221Glu) c.213-71C>A c.1250C>A (p.Ala417Glu) | |
| 16 | g.31462701C>G | CA395733594 | ARMC5 | c.1154C>G (p.Ala385Gly) c.1439C>G (p.Ala480Gly) c.662C>G (p.Ala221Gly) c.213-71C>G c.1250C>G (p.Ala417Gly) | |
| 16 | g.31462701C>T | CA395733596 | ARMC5 | c.1154C>T (p.Ala385Val) c.1439C>T (p.Ala480Val) c.662C>T (p.Ala221Val) c.213-71C>T c.1250C>T (p.Ala417Val) | |
| 16 | g.31462702A= | CA2217060737 | ARMC5 | c.1155A= (p.Ala385=) c.1440A= (p.Ala480=) c.663A= (p.Ala221=) c.213-70A= c.1251A= (p.Ala417=) | |
| 16 | g.31462702A>C | CA494933662 | ARMC5 | c.1155A>C (p.Ala385=) c.1440A>C (p.Ala480=) c.663A>C (p.Ala221=) c.213-70A>C c.1251A>C (p.Ala417=) | |
| 16 | g.31462702A>G | CA8029613 | ARMC5 | c.1155A>G (p.Ala385=) c.1440A>G (p.Ala480=) c.663A>G (p.Ala221=) c.213-70A>G c.1251A>G (p.Ala417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462702A>T | CA494933663 | ARMC5 | c.1155A>T (p.Ala385=) c.1440A>T (p.Ala480=) c.663A>T (p.Ala221=) c.213-70A>T c.1251A>T (p.Ala417=) | |
| 16 | g.31462703T>A | CA395733599 | ARMC5 | c.1156T>A (p.Trp386Arg) c.1441T>A (p.Trp481Arg) c.664T>A (p.Trp222Arg) c.213-69T>A c.1252T>A (p.Trp418Arg) | |
| 16 | g.31462703T>C | CA395733602 | ARMC5 | c.1156T>C (p.Trp386Arg) c.1441T>C (p.Trp481Arg) c.664T>C (p.Trp222Arg) c.213-69T>C c.1252T>C (p.Trp418Arg) | |
| 16 | g.31462703T>G | CA395733601 | ARMC5 | c.1156T>G (p.Trp386Gly) c.1441T>G (p.Trp481Gly) c.664T>G (p.Trp222Gly) c.213-69T>G c.1252T>G (p.Trp418Gly) | |
| 16 | g.31462704G>A | CA395733604 | ARMC5 | c.1157G>A (p.Trp386Ter) c.1442G>A (p.Trp481Ter) c.665G>A (p.Trp222Ter) c.213-68G>A c.1253G>A (p.Trp418Ter) | |
| 16 | g.31462704G>C | CA395733606 | ARMC5 | c.1157G>C (p.Trp386Ser) c.1442G>C (p.Trp481Ser) c.665G>C (p.Trp222Ser) c.213-68G>C c.1253G>C (p.Trp418Ser) | |
| 16 | g.31462704G>T | CA395733609 | ARMC5 | c.1157G>T (p.Trp386Leu) c.1442G>T (p.Trp481Leu) c.665G>T (p.Trp222Leu) c.213-68G>T c.1253G>T (p.Trp418Leu) | |
| 16 | g.31462705G>A | CA395733611 | ARMC5 | c.1158G>A (p.Trp386Ter) c.1443G>A (p.Trp481Ter) c.666G>A (p.Trp222Ter) c.213-67G>A c.1254G>A (p.Trp418Ter) | |
| 16 | g.31462705G>C | CA395733616 | ARMC5 | c.1158G>C (p.Trp386Cys) c.1443G>C (p.Trp481Cys) c.666G>C (p.Trp222Cys) c.213-67G>C c.1254G>C (p.Trp418Cys) | |
| 16 | g.31462705G>T | CA395733619 | ARMC5 | c.1158G>T (p.Trp386Cys) c.1443G>T (p.Trp481Cys) c.666G>T (p.Trp222Cys) c.213-67G>T c.1254G>T (p.Trp418Cys) |