| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 16 | g.31462706C>A | CA395733621 | ARMC5 | c.1159C>A (p.His387Asn) c.1444C>A (p.His482Asn) c.667C>A (p.His223Asn) c.213-66C>A c.1255C>A (p.His419Asn) | |
| 16 | g.31462706C>G | CA395733623 | ARMC5 | c.1159C>G (p.His387Asp) c.1444C>G (p.His482Asp) c.667C>G (p.His223Asp) c.213-66C>G c.1255C>G (p.His419Asp) | |
| 16 | g.31462706C>T | CA395733625 | ARMC5 | c.1159C>T (p.His387Tyr) c.1444C>T (p.His482Tyr) c.667C>T (p.His223Tyr) c.213-66C>T c.1255C>T (p.His419Tyr) | |
| 16 | g.31462707A>C | CA395733631 | ARMC5 | c.1160A>C (p.His387Pro) c.1445A>C (p.His482Pro) c.668A>C (p.His223Pro) c.213-65A>C c.1256A>C (p.His419Pro) | |
| 16 | g.31462707A>G | CA395733629 | ARMC5 | c.1160A>G (p.His387Arg) c.1445A>G (p.His482Arg) c.668A>G (p.His223Arg) c.213-65A>G c.1256A>G (p.His419Arg) | gnomAD v4 |
| 16 | g.31462707A>T | CA395733627 | ARMC5 | c.1160A>T (p.His387Leu) c.1445A>T (p.His482Leu) c.668A>T (p.His223Leu) c.213-65A>T c.1256A>T (p.His419Leu) | |
| 16 | g.31462708C>A | CA395733633 | ARMC5 | c.1161C>A (p.His387Gln) c.1446C>A (p.His482Gln) c.669C>A (p.His223Gln) c.213-64C>A c.1257C>A (p.His419Gln) | dbSNP |
| 16 | g.31462708C= | CA2217060738 | ARMC5 | c.1161C= (p.His387=) c.1446C= (p.His482=) c.669C= (p.His223=) c.213-64C= c.1257C= (p.His419=) | |
| 16 | g.31462708C>G | CA395733635 | ARMC5 | c.1161C>G (p.His387Gln) c.1446C>G (p.His482Gln) c.669C>G (p.His223Gln) c.213-64C>G c.1257C>G (p.His419Gln) | |
| 16 | g.31462708C>T | CA494933671 | ARMC5 | c.1161C>T (p.His387=) c.1446C>T (p.His482=) c.669C>T (p.His223=) c.213-64C>T c.1257C>T (p.His419=) | |
| 16 | g.31462710del | CA2632876639 | ARMC5 | c.1163del (p.Pro388LeufsTer?) c.1448del (p.Pro483LeufsTer?) c.671del (p.Pro224LeufsTer?) c.213-62del c.1259del (p.Pro420LeufsTer?) | gnomAD v4 |
| 16 | g.31462709C>A | CA395733637 | ARMC5 | c.1162C>A (p.Pro388Thr) c.1447C>A (p.Pro483Thr) c.670C>A (p.Pro224Thr) c.213-63C>A c.1258C>A (p.Pro420Thr) | |
| 16 | g.31462709C= | CA2217060739 | ARMC5 | c.1162C= (p.Pro388=) c.1447C= (p.Pro483=) c.670C= (p.Pro224=) c.213-63C= c.1258C= (p.Pro420=) | |
| 16 | g.31462709C>G | CA395733638 | ARMC5 | c.1162C>G (p.Pro388Ala) c.1447C>G (p.Pro483Ala) c.670C>G (p.Pro224Ala) c.213-63C>G c.1258C>G (p.Pro420Ala) | |
| 16 | g.31462709C>T | CA395733640 | ARMC5 | c.1162C>T (p.Pro388Ser) c.1447C>T (p.Pro483Ser) c.670C>T (p.Pro224Ser) c.213-63C>T c.1258C>T (p.Pro420Ser) | dbSNP |
| 16 | g.31462710C>A | CA395733643 | ARMC5 | c.1163C>A (p.Pro388His) c.1448C>A (p.Pro483His) c.671C>A (p.Pro224His) c.213-62C>A c.1259C>A (p.Pro420His) | |
| 16 | g.31462710C>G | CA395733644 | ARMC5 | c.1163C>G (p.Pro388Arg) c.1448C>G (p.Pro483Arg) c.671C>G (p.Pro224Arg) c.213-62C>G c.1259C>G (p.Pro420Arg) | gnomAD v4 |
| 16 | g.31462710C>T | CA395733646 | ARMC5 | c.1163C>T (p.Pro388Leu) c.1448C>T (p.Pro483Leu) c.671C>T (p.Pro224Leu) c.213-62C>T c.1259C>T (p.Pro420Leu) | gnomAD v4 |
| 16 | g.31462711T>A | CA494933676 | ARMC5 | c.1164T>A (p.Pro388=) c.1449T>A (p.Pro483=) c.672T>A (p.Pro224=) c.213-61T>A c.1260T>A (p.Pro420=) | |
| 16 | g.31462711T>C | CA494933678 | ARMC5 | c.1164T>C (p.Pro388=) c.1449T>C (p.Pro483=) c.672T>C (p.Pro224=) c.213-61T>C c.1260T>C (p.Pro420=) | |
| 16 | g.31462711T>G | CA494933677 | ARMC5 | c.1164T>G (p.Pro388=) c.1449T>G (p.Pro483=) c.672T>G (p.Pro224=) c.213-61T>G c.1260T>G (p.Pro420=) | |
| 16 | g.31462712C>A | CA395733648 | ARMC5 | c.1165C>A (p.Arg389Ser) c.1450C>A (p.Arg484Ser) c.673C>A (p.Arg225Ser) c.213-60C>A c.1261C>A (p.Arg421Ser) | |
| 16 | g.31462712C= | CA2217060740 | ARMC5 | c.1165C= (p.Arg389=) c.1450C= (p.Arg484=) c.673C= (p.Arg225=) c.213-60C= c.1261C= (p.Arg421=) | |
| 16 | g.31462712C>G | CA395733650 | ARMC5 | c.1165C>G (p.Arg389Gly) c.1450C>G (p.Arg484Gly) c.673C>G (p.Arg225Gly) c.213-60C>G c.1261C>G (p.Arg421Gly) | |
| 16 | g.31462712C>T | CA395733652 | ARMC5 | c.1165C>T (p.Arg389Cys) c.1450C>T (p.Arg484Cys) c.673C>T (p.Arg225Cys) c.213-60C>T c.1261C>T (p.Arg421Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462713G>A | CA395733658 | ARMC5 | c.1166G>A (p.Arg389His) c.1451G>A (p.Arg484His) c.674G>A (p.Arg225His) c.213-59G>A c.1262G>A (p.Arg421His) | gnomAD v4 |
| 16 | g.31462713G>C | CA395733656 | ARMC5 | c.1166G>C (p.Arg389Pro) c.1451G>C (p.Arg484Pro) c.674G>C (p.Arg225Pro) c.213-59G>C c.1262G>C (p.Arg421Pro) | |
| 16 | g.31462713G>T | CA395733654 | ARMC5 | c.1166G>T (p.Arg389Leu) c.1451G>T (p.Arg484Leu) c.674G>T (p.Arg225Leu) c.213-59G>T c.1262G>T (p.Arg421Leu) | |
| 16 | g.31462714T>A | CA494933681 | ARMC5 | c.1167T>A (p.Arg389=) c.1452T>A (p.Arg484=) c.675T>A (p.Arg225=) c.213-58T>A c.1263T>A (p.Arg421=) | |
| 16 | g.31462714T>C | CA494933682 | ARMC5 | c.1167T>C (p.Arg389=) c.1452T>C (p.Arg484=) c.675T>C (p.Arg225=) c.213-58T>C c.1263T>C (p.Arg421=) | |
| 16 | g.31462714T>G | CA494933683 | ARMC5 | c.1167T>G (p.Arg389=) c.1452T>G (p.Arg484=) c.675T>G (p.Arg225=) c.213-58T>G c.1263T>G (p.Arg421=) | |
| 16 | g.31462715A= | CA2217060741 | ARMC5 | c.1168A= (p.Ile390=) c.1453A= (p.Ile485=) c.676A= (p.Ile226=) c.213-57A= c.1264A= (p.Ile422=) | |
| 16 | g.31462715A>C | CA395733660 | ARMC5 | c.1168A>C (p.Ile390Leu) c.1453A>C (p.Ile485Leu) c.676A>C (p.Ile226Leu) c.213-57A>C c.1264A>C (p.Ile422Leu) | |
| 16 | g.31462715A>G | CA8029614 | ARMC5 | c.1168A>G (p.Ile390Val) c.1453A>G (p.Ile485Val) c.676A>G (p.Ile226Val) c.213-57A>G c.1264A>G (p.Ile422Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462715A>T | CA395733664 | ARMC5 | c.1168A>T (p.Ile390Phe) c.1453A>T (p.Ile485Phe) c.676A>T (p.Ile226Phe) c.213-57A>T c.1264A>T (p.Ile422Phe) | |
| 16 | g.31462716T>A | CA395733666 | ARMC5 | c.1169T>A (p.Ile390Asn) c.1454T>A (p.Ile485Asn) c.677T>A (p.Ile226Asn) c.213-56T>A c.1265T>A (p.Ile422Asn) | |
| 16 | g.31462716T>C | CA395733668 | ARMC5 | c.1169T>C (p.Ile390Thr) c.1454T>C (p.Ile485Thr) c.677T>C (p.Ile226Thr) c.213-56T>C c.1265T>C (p.Ile422Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462716T>G | CA395733670 | ARMC5 | c.1169T>G (p.Ile390Ser) c.1454T>G (p.Ile485Ser) c.677T>G (p.Ile226Ser) c.213-56T>G c.1265T>G (p.Ile422Ser) | |
| 16 | g.31462716T= | CA2217060742 | ARMC5 | c.1169T= (p.Ile390=) c.1454T= (p.Ile485=) c.677T= (p.Ile226=) c.213-56T= c.1265T= (p.Ile422=) | |
| 16 | g.31462717T>A | CA494933686 | ARMC5 | c.1170T>A (p.Ile390=) c.1455T>A (p.Ile485=) c.678T>A (p.Ile226=) c.213-55T>A c.1266T>A (p.Ile422=) | |
| 16 | g.31462717T>C | CA494933688 | ARMC5 | c.1170T>C (p.Ile390=) c.1455T>C (p.Ile485=) c.678T>C (p.Ile226=) c.213-55T>C c.1266T>C (p.Ile422=) | dbSNP gnomAD v4 |
| 16 | g.31462717T>G | CA395733672 | ARMC5 | c.1170T>G (p.Ile390Met) c.1455T>G (p.Ile485Met) c.678T>G (p.Ile226Met) c.213-55T>G c.1266T>G (p.Ile422Met) | |
| 16 | g.31462717T= | CA2217060743 | ARMC5 | c.1170T= (p.Ile390=) c.1455T= (p.Ile485=) c.678T= (p.Ile226=) c.213-55T= c.1266T= (p.Ile422=) | |
| 16 | g.31462718G>A | CA395733675 | ARMC5 | c.1171G>A (p.Val391Met) c.1456G>A (p.Val486Met) c.679G>A (p.Val227Met) c.213-54G>A c.1267G>A (p.Val423Met) | dbSNP gnomAD v4 |
| 16 | g.31462718G>C | CA395733677 | ARMC5 | c.1171G>C (p.Val391Leu) c.1456G>C (p.Val486Leu) c.679G>C (p.Val227Leu) c.213-54G>C c.1267G>C (p.Val423Leu) | |
| 16 | g.31462718G= | CA2217060744 | ARMC5 | c.1171G= (p.Val391=) c.1456G= (p.Val486=) c.679G= (p.Val227=) c.213-54G= c.1267G= (p.Val423=) | |
| 16 | g.31462718G>T | CA395733679 | ARMC5 | c.1171G>T (p.Val391Leu) c.1456G>T (p.Val486Leu) c.679G>T (p.Val227Leu) c.213-54G>T c.1267G>T (p.Val423Leu) | |
| 16 | g.31462719T>A | CA395733682 | ARMC5 | c.1172T>A (p.Val391Glu) c.1457T>A (p.Val486Glu) c.680T>A (p.Val227Glu) c.213-53T>A c.1268T>A (p.Val423Glu) | |
| 16 | g.31462719T>C | CA395733683 | ARMC5 | c.1172T>C (p.Val391Ala) c.1457T>C (p.Val486Ala) c.680T>C (p.Val227Ala) c.213-53T>C c.1268T>C (p.Val423Ala) | |
| 16 | g.31462719T>G | CA395733685 | ARMC5 | c.1172T>G (p.Val391Gly) c.1457T>G (p.Val486Gly) c.680T>G (p.Val227Gly) c.213-53T>G c.1268T>G (p.Val423Gly) | |
| 16 | g.31462720G>A | CA494933690 | ARMC5 | c.1173G>A (p.Val391=) c.1458G>A (p.Val486=) c.681G>A (p.Val227=) c.213-52G>A c.1269G>A (p.Val423=) | |
| 16 | g.31462720G>C | CA494933691 | ARMC5 | c.1173G>C (p.Val391=) c.1458G>C (p.Val486=) c.681G>C (p.Val227=) c.213-52G>C c.1269G>C (p.Val423=) | |
| 16 | g.31462720G>T | CA494933692 | ARMC5 | c.1173G>T (p.Val391=) c.1458G>T (p.Val486=) c.681G>T (p.Val227=) c.213-52G>T c.1269G>T (p.Val423=) | |
| 16 | g.31462721G>A | CA395733689 | ARMC5 | c.1174G>A (p.Ala392Thr) c.1459G>A (p.Ala487Thr) c.682G>A (p.Ala228Thr) c.213-51G>A c.1270G>A (p.Ala424Thr) | |
| 16 | g.31462721G>C | CA395733692 | ARMC5 | c.1174G>C (p.Ala392Pro) c.1459G>C (p.Ala487Pro) c.682G>C (p.Ala228Pro) c.213-51G>C c.1270G>C (p.Ala424Pro) | |
| 16 | g.31462721G>T | CA395733687 | ARMC5 | c.1174G>T (p.Ala392Ser) c.1459G>T (p.Ala487Ser) c.682G>T (p.Ala228Ser) c.213-51G>T c.1270G>T (p.Ala424Ser) | gnomAD v4 |
| 16 | g.31462722C>A | CA395733698 | ARMC5 | c.1175C>A (p.Ala392Asp) c.1460C>A (p.Ala487Asp) c.683C>A (p.Ala228Asp) c.213-50C>A c.1271C>A (p.Ala424Asp) | gnomAD v4 |
| 16 | g.31462722C>G | CA395733694 | ARMC5 | c.1175C>G (p.Ala392Gly) c.1460C>G (p.Ala487Gly) c.683C>G (p.Ala228Gly) c.213-50C>G c.1271C>G (p.Ala424Gly) | |
| 16 | g.31462722C>T | CA395733696 | ARMC5 | c.1175C>T (p.Ala392Val) c.1460C>T (p.Ala487Val) c.683C>T (p.Ala228Val) c.213-50C>T c.1271C>T (p.Ala424Val) | |
| 16 | g.31462723T>A | CA494933695 | ARMC5 | c.1176T>A (p.Ala392=) c.1461T>A (p.Ala487=) c.684T>A (p.Ala228=) c.213-49T>A c.1272T>A (p.Ala424=) | |
| 16 | g.31462723T>C | CA494933698 | ARMC5 | c.1176T>C (p.Ala392=) c.1461T>C (p.Ala487=) c.684T>C (p.Ala228=) c.213-49T>C c.1272T>C (p.Ala424=) | |
| 16 | g.31462723T>G | CA494933697 | ARMC5 | c.1176T>G (p.Ala392=) c.1461T>G (p.Ala487=) c.684T>G (p.Ala228=) c.213-49T>G c.1272T>G (p.Ala424=) | |
| 16 | g.31462724G>A | CA395733701 | ARMC5 | c.1177G>A (p.Ala393Thr) c.1462G>A (p.Ala488Thr) c.685G>A (p.Ala229Thr) c.213-48G>A c.1273G>A (p.Ala425Thr) | |
| 16 | g.31462724G>C | CA395733702 | ARMC5 | c.1177G>C (p.Ala393Pro) c.1462G>C (p.Ala488Pro) c.685G>C (p.Ala229Pro) c.213-48G>C c.1273G>C (p.Ala425Pro) | |
| 16 | g.31462724G>T | CA395733704 | ARMC5 | c.1177G>T (p.Ala393Ser) c.1462G>T (p.Ala488Ser) c.685G>T (p.Ala229Ser) c.213-48G>T c.1273G>T (p.Ala425Ser) | |
| 16 | g.31462725C>A | CA395733705 | ARMC5 | c.1178C>A (p.Ala393Asp) c.1463C>A (p.Ala488Asp) c.686C>A (p.Ala229Asp) c.213-47C>A c.1274C>A (p.Ala425Asp) | |
| 16 | g.31462725C= | CA2217060745 | ARMC5 | c.1178C= (p.Ala393=) c.1463C= (p.Ala488=) c.686C= (p.Ala229=) c.213-47C= c.1274C= (p.Ala425=) | |
| 16 | g.31462725C>G | CA8029615 | ARMC5 | c.1178C>G (p.Ala393Gly) c.1463C>G (p.Ala488Gly) c.686C>G (p.Ala229Gly) c.213-47C>G c.1274C>G (p.Ala425Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462725C>T | CA395733708 | ARMC5 | c.1178C>T (p.Ala393Val) c.1463C>T (p.Ala488Val) c.686C>T (p.Ala229Val) c.213-47C>T c.1274C>T (p.Ala425Val) | |
| 16 | g.31462726C>A | CA494933704 | ARMC5 | c.1179C>A (p.Ala393=) c.1464C>A (p.Ala488=) c.687C>A (p.Ala229=) c.213-46C>A c.1275C>A (p.Ala425=) | gnomAD v4 |
| 16 | g.31462726C>G | CA494933705 | ARMC5 | c.1179C>G (p.Ala393=) c.1464C>G (p.Ala488=) c.687C>G (p.Ala229=) c.213-46C>G c.1275C>G (p.Ala425=) | |
| 16 | g.31462726C>T | CA494933706 | ARMC5 | c.1179C>T (p.Ala393=) c.1464C>T (p.Ala488=) c.687C>T (p.Ala229=) c.213-46C>T c.1275C>T (p.Ala425=) | |
| 16 | g.31462727C>A | CA395733710 | ARMC5 | c.1180C>A (p.Leu394Ile) c.1465C>A (p.Leu489Ile) c.688C>A (p.Leu230Ile) c.213-45C>A c.1276C>A (p.Leu426Ile) | |
| 16 | g.31462727C= | CA2217060746 | ARMC5 | c.1180C= (p.Leu394=) c.1465C= (p.Leu489=) c.688C= (p.Leu230=) c.213-45C= c.1276C= (p.Leu426=) | |
| 16 | g.31462727C>G | CA395733712 | ARMC5 | c.1180C>G (p.Leu394Val) c.1465C>G (p.Leu489Val) c.688C>G (p.Leu230Val) c.213-45C>G c.1276C>G (p.Leu426Val) | |
| 16 | g.31462727C>T | CA395733714 | ARMC5 | c.1180C>T (p.Leu394Phe) c.1465C>T (p.Leu489Phe) c.688C>T (p.Leu230Phe) c.213-45C>T c.1276C>T (p.Leu426Phe) | dbSNP |
| 16 | g.31462728T>A | CA395733719 | ARMC5 | c.1181T>A (p.Leu394His) c.1466T>A (p.Leu489His) c.689T>A (p.Leu230His) c.213-44T>A c.1277T>A (p.Leu426His) | |
| 16 | g.31462728T>C | CA395733718 | ARMC5 | c.1181T>C (p.Leu394Pro) c.1466T>C (p.Leu489Pro) c.689T>C (p.Leu230Pro) c.213-44T>C c.1277T>C (p.Leu426Pro) | dbSNP |
| 16 | g.31462728T>G | CA395733716 | ARMC5 | c.1181T>G (p.Leu394Arg) c.1466T>G (p.Leu489Arg) c.689T>G (p.Leu230Arg) c.213-44T>G c.1277T>G (p.Leu426Arg) | |
| 16 | g.31462728T= | CA2217060747 | ARMC5 | c.1181T= (p.Leu394=) c.1466T= (p.Leu489=) c.689T= (p.Leu230=) c.213-44T= c.1277T= (p.Leu426=) | |
| 16 | g.31462729del | CA2632876641 | ARMC5 | c.1182del (p.Val395TrpfsTer?) c.1467del (p.Val490TrpfsTer?) c.690del (p.Val231TrpfsTer?) c.213-43del c.1278del (p.Val427TrpfsTer?) | gnomAD v4 |
| 16 | g.31462729T>A | CA494933712 | ARMC5 | c.1182T>A (p.Leu394=) c.1467T>A (p.Leu489=) c.690T>A (p.Leu230=) c.213-43T>A c.1278T>A (p.Leu426=) | |
| 16 | g.31462729T>C | CA494933713 | ARMC5 | c.1182T>C (p.Leu394=) c.1467T>C (p.Leu489=) c.690T>C (p.Leu230=) c.213-43T>C c.1278T>C (p.Leu426=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462729T>G | CA494933714 | ARMC5 | c.1182T>G (p.Leu394=) c.1467T>G (p.Leu489=) c.690T>G (p.Leu230=) c.213-43T>G c.1278T>G (p.Leu426=) | |
| 16 | g.31462729T= | CA2217060748 | ARMC5 | c.1182T= (p.Leu394=) c.1467T= (p.Leu489=) c.690T= (p.Leu230=) c.213-43T= c.1278T= (p.Leu426=) | |
| 16 | g.31462730G>A | CA395733721 | ARMC5 | c.1183G>A (p.Val395Met) c.1468G>A (p.Val490Met) c.691G>A (p.Val231Met) c.213-42G>A c.1279G>A (p.Val427Met) | gnomAD v4 |
| 16 | g.31462730G>C | CA395733723 | ARMC5 | c.1183G>C (p.Val395Leu) c.1468G>C (p.Val490Leu) c.691G>C (p.Val231Leu) c.213-42G>C c.1279G>C (p.Val427Leu) | |
| 16 | g.31462730G>T | CA395733725 | ARMC5 | c.1183G>T (p.Val395Leu) c.1468G>T (p.Val490Leu) c.691G>T (p.Val231Leu) c.213-42G>T c.1279G>T (p.Val427Leu) | |
| 16 | g.31462731T>A | CA395733727 | ARMC5 | c.1184T>A (p.Val395Glu) c.1469T>A (p.Val490Glu) c.692T>A (p.Val231Glu) c.213-41T>A c.1280T>A (p.Val427Glu) | |
| 16 | g.31462731T>C | CA395733728 | ARMC5 | c.1184T>C (p.Val395Ala) c.1469T>C (p.Val490Ala) c.692T>C (p.Val231Ala) c.213-41T>C c.1280T>C (p.Val427Ala) | |
| 16 | g.31462731T>G | CA395733731 | ARMC5 | c.1184T>G (p.Val395Gly) c.1469T>G (p.Val490Gly) c.692T>G (p.Val231Gly) c.213-41T>G c.1280T>G (p.Val427Gly) | |
| 16 | g.31462732G>A | CA494933716 | ARMC5 | c.1185G>A (p.Val395=) c.1470G>A (p.Val490=) c.693G>A (p.Val231=) c.213-40G>A c.1281G>A (p.Val427=) | dbSNP gnomAD v4 |
| 16 | g.31462732G>C | CA494933719 | ARMC5 | c.1185G>C (p.Val395=) c.1470G>C (p.Val490=) c.693G>C (p.Val231=) c.213-40G>C c.1281G>C (p.Val427=) | |
| 16 | g.31462732G= | CA2217060749 | ARMC5 | c.1185G= (p.Val395=) c.1470G= (p.Val490=) c.693G= (p.Val231=) c.213-40G= c.1281G= (p.Val427=) | |
| 16 | g.31462732G>T | CA494933721 | ARMC5 | c.1185G>T (p.Val395=) c.1470G>T (p.Val490=) c.693G>T (p.Val231=) c.213-40G>T c.1281G>T (p.Val427=) | |
| 16 | g.31462733G>A | CA395733733 | ARMC5 | c.1186G>A (p.Gly396Arg) c.1471G>A (p.Gly491Arg) c.694G>A (p.Gly232Arg) c.213-39G>A c.1282G>A (p.Gly428Arg) | |
| 16 | g.31462733G>C | CA395733735 | ARMC5 | c.1186G>C (p.Gly396Arg) c.1471G>C (p.Gly491Arg) c.694G>C (p.Gly232Arg) c.213-39G>C c.1282G>C (p.Gly428Arg) | gnomAD v4 |
| 16 | g.31462733G>T | CA395733737 | ARMC5 | c.1186G>T (p.Gly396Trp) c.1471G>T (p.Gly491Trp) c.694G>T (p.Gly232Trp) c.213-39G>T c.1282G>T (p.Gly428Trp) | COSMIC COSMIC |
| 16 | g.31462734G>A | CA8029616 | ARMC5 | c.1187G>A (p.Gly396Glu) c.1472G>A (p.Gly491Glu) c.695G>A (p.Gly232Glu) c.213-38G>A c.1283G>A (p.Gly428Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462734G>C | CA395733740 | ARMC5 | c.1187G>C (p.Gly396Ala) c.1472G>C (p.Gly491Ala) c.695G>C (p.Gly232Ala) c.213-38G>C c.1283G>C (p.Gly428Ala) | |
| 16 | g.31462734G= | CA2217060750 | ARMC5 | c.1187G= (p.Gly396=) c.1472G= (p.Gly491=) c.695G= (p.Gly232=) c.213-38G= c.1283G= (p.Gly428=) | |
| 16 | g.31462734G>T | CA395733741 | ARMC5 | c.1187G>T (p.Gly396Val) c.1472G>T (p.Gly491Val) c.695G>T (p.Gly232Val) c.213-38G>T c.1283G>T (p.Gly428Val) | |
| 16 | g.31462735G>A | CA494933727 | ARMC5 | c.1188G>A (p.Gly396=) c.1473G>A (p.Gly491=) c.696G>A (p.Gly232=) c.213-37G>A c.1284G>A (p.Gly428=) | |
| 16 | g.31462735G>C | CA494933728 | ARMC5 | c.1188G>C (p.Gly396=) c.1473G>C (p.Gly491=) c.696G>C (p.Gly232=) c.213-37G>C c.1284G>C (p.Gly428=) | |
| 16 | g.31462735G>T | CA494933729 | ARMC5 | c.1188G>T (p.Gly396=) c.1473G>T (p.Gly491=) c.696G>T (p.Gly232=) c.213-37G>T c.1284G>T (p.Gly428=) | |
| 16 | g.31462737_31462742dup | CA8029617 | ARMC5 | c.1190_1195dup (p.Leu398_Tyr399insPheLeu) c.1475_1480dup (p.Leu493_Tyr494insPheLeu) c.698_703dup (p.Leu234_Tyr235insPheLeu) c.213-35_213-30dup c.1286_1291dup (p.Leu430_Tyr431insPheLeu) | dbSNP ExAC gnomAD v2 |
| 16 | g.31462736T>A | CA395733746 | ARMC5 | c.1189T>A (p.Phe397Ile) c.1474T>A (p.Phe492Ile) c.697T>A (p.Phe233Ile) c.213-36T>A c.1285T>A (p.Phe429Ile) | |
| 16 | g.31462736T>C | CA395733747 | ARMC5 | c.1189T>C (p.Phe397Leu) c.1474T>C (p.Phe492Leu) c.697T>C (p.Phe233Leu) c.213-36T>C c.1285T>C (p.Phe429Leu) | |
| 16 | g.31462736T>G | CA395733744 | ARMC5 | c.1189T>G (p.Phe397Val) c.1474T>G (p.Phe492Val) c.697T>G (p.Phe233Val) c.213-36T>G c.1285T>G (p.Phe429Val) | dbSNP |
| 16 | g.31462736T= | CA2217060751 | ARMC5 | c.1189T= (p.Phe397=) c.1474T= (p.Phe492=) c.697T= (p.Phe233=) c.213-36T= c.1285T= (p.Phe429=) | |
| 16 | g.31462737T>A | CA395733748 | ARMC5 | c.1190T>A (p.Phe397Tyr) c.1475T>A (p.Phe492Tyr) c.698T>A (p.Phe233Tyr) c.213-35T>A c.1286T>A (p.Phe429Tyr) | |
| 16 | g.31462737T>C | CA395733749 | ARMC5 | c.1190T>C (p.Phe397Ser) c.1475T>C (p.Phe492Ser) c.698T>C (p.Phe233Ser) c.213-35T>C c.1286T>C (p.Phe429Ser) | |
| 16 | g.31462737T>G | CA395733750 | ARMC5 | c.1190T>G (p.Phe397Cys) c.1475T>G (p.Phe492Cys) c.698T>G (p.Phe233Cys) c.213-35T>G c.1286T>G (p.Phe429Cys) | COSMIC COSMIC |
| 16 | g.31462738T>A | CA395733752 | ARMC5 | c.1191T>A (p.Phe397Leu) c.1476T>A (p.Phe492Leu) c.699T>A (p.Phe233Leu) c.213-34T>A c.1287T>A (p.Phe429Leu) | |
| 16 | g.31462738T>C | CA494933733 | ARMC5 | c.1191T>C (p.Phe397=) c.1476T>C (p.Phe492=) c.699T>C (p.Phe233=) c.213-34T>C c.1287T>C (p.Phe429=) | |
| 16 | g.31462738T>G | CA395733754 | ARMC5 | c.1191T>G (p.Phe397Leu) c.1476T>G (p.Phe492Leu) c.699T>G (p.Phe233Leu) c.213-34T>G c.1287T>G (p.Phe429Leu) | dbSNP |
| 16 | g.31462739C>A | CA395733755 | ARMC5 | c.1192C>A (p.Leu398Met) c.1477C>A (p.Leu493Met) c.700C>A (p.Leu234Met) c.213-33C>A c.1288C>A (p.Leu430Met) | |
| 16 | g.31462739C= | CA2217060752 | ARMC5 | c.1192C= (p.Leu398=) c.1477C= (p.Leu493=) c.700C= (p.Leu234=) c.213-33C= c.1288C= (p.Leu430=) | |
| 16 | g.31462739C>G | CA395733757 | ARMC5 | c.1192C>G (p.Leu398Val) c.1477C>G (p.Leu493Val) c.700C>G (p.Leu234Val) c.213-33C>G c.1288C>G (p.Leu430Val) | gnomAD v4 |
| 16 | g.31462739C>T | CA494933734 | ARMC5 | c.1192C>T (p.Leu398=) c.1477C>T (p.Leu493=) c.700C>T (p.Leu234=) c.213-33C>T c.1288C>T (p.Leu430=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462740T>A | CA395733759 | ARMC5 | c.1193T>A (p.Leu398Gln) c.1478T>A (p.Leu493Gln) c.701T>A (p.Leu234Gln) c.213-32T>A c.1289T>A (p.Leu430Gln) | |
| 16 | g.31462740T>C | CA395733761 | ARMC5 | c.1193T>C (p.Leu398Pro) c.1478T>C (p.Leu493Pro) c.701T>C (p.Leu234Pro) c.213-32T>C c.1289T>C (p.Leu430Pro) | |
| 16 | g.31462740T>G | CA395733763 | ARMC5 | c.1193T>G (p.Leu398Arg) c.1478T>G (p.Leu493Arg) c.701T>G (p.Leu234Arg) c.213-32T>G c.1289T>G (p.Leu430Arg) | |
| 16 | g.31462741G>A | CA8029618 | ARMC5 | c.1194G>A (p.Leu398=) c.1479G>A (p.Leu493=) c.702G>A (p.Leu234=) c.213-31G>A c.1290G>A (p.Leu430=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462741G>C | CA494933736 | ARMC5 | c.1194G>C (p.Leu398=) c.1479G>C (p.Leu493=) c.702G>C (p.Leu234=) c.213-31G>C c.1290G>C (p.Leu430=) | |
| 16 | g.31462741G= | CA2217060753 | ARMC5 | c.1194G= (p.Leu398=) c.1479G= (p.Leu493=) c.702G= (p.Leu234=) c.213-31G= c.1290G= (p.Leu430=) | |
| 16 | g.31462741G>T | CA494933738 | ARMC5 | c.1194G>T (p.Leu398=) c.1479G>T (p.Leu493=) c.702G>T (p.Leu234=) c.213-31G>T c.1290G>T (p.Leu430=) | COSMIC COSMIC |
| 16 | g.31462742T>A | CA395733766 | ARMC5 | c.1195T>A (p.Tyr399Asn) c.1480T>A (p.Tyr494Asn) c.703T>A (p.Tyr235Asn) c.213-30T>A c.1291T>A (p.Tyr431Asn) | |
| 16 | g.31462742T>C | CA395733767 | ARMC5 | c.1195T>C (p.Tyr399His) c.1480T>C (p.Tyr494His) c.703T>C (p.Tyr235His) c.213-30T>C c.1291T>C (p.Tyr431His) | |
| 16 | g.31462742T>G | CA395733769 | ARMC5 | c.1195T>G (p.Tyr399Asp) c.1480T>G (p.Tyr494Asp) c.703T>G (p.Tyr235Asp) c.213-30T>G c.1291T>G (p.Tyr431Asp) | |
| 16 | g.31462743A= | CA2217060754 | ARMC5 | c.1196A= (p.Tyr399=) c.1481A= (p.Tyr494=) c.704A= (p.Tyr235=) c.213-29A= c.1292A= (p.Tyr431=) | |
| 16 | g.31462743A>C | CA395733774 | ARMC5 | c.1196A>C (p.Tyr399Ser) c.1481A>C (p.Tyr494Ser) c.704A>C (p.Tyr235Ser) c.213-29A>C c.1292A>C (p.Tyr431Ser) | |
| 16 | g.31462743A>G | CA8029619 | ARMC5 | c.1196A>G (p.Tyr399Cys) c.1481A>G (p.Tyr494Cys) c.704A>G (p.Tyr235Cys) c.213-29A>G c.1292A>G (p.Tyr431Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462743A>T | CA395733771 | ARMC5 | c.1196A>T (p.Tyr399Phe) c.1481A>T (p.Tyr494Phe) c.704A>T (p.Tyr235Phe) c.213-29A>T c.1292A>T (p.Tyr431Phe) | |
| 16 | g.31462744T>A | CA395733776 | ARMC5 | c.1197T>A (p.Tyr399Ter) c.1482T>A (p.Tyr494Ter) c.705T>A (p.Tyr235Ter) c.213-28T>A c.1293T>A (p.Tyr431Ter) | |
| 16 | g.31462744T>C | CA494933743 | ARMC5 | c.1197T>C (p.Tyr399=) c.1482T>C (p.Tyr494=) c.705T>C (p.Tyr235=) c.213-28T>C c.1293T>C (p.Tyr431=) | |
| 16 | g.31462744T>G | CA8029620 | ARMC5 | c.1197T>G (p.Tyr399Ter) c.1482T>G (p.Tyr494Ter) c.705T>G (p.Tyr235Ter) c.213-28T>G c.1293T>G (p.Tyr431Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462744T= | CA2217060755 | ARMC5 | c.1197T= (p.Tyr399=) c.1482T= (p.Tyr494=) c.705T= (p.Tyr235=) c.213-28T= c.1293T= (p.Tyr431=) | |
| 16 | g.31462745G>A | CA395733779 | ARMC5 | c.1198G>A (p.Asp400Asn) c.1483G>A (p.Asp495Asn) c.706G>A (p.Asp236Asn) c.213-27G>A c.1294G>A (p.Asp432Asn) | |
| 16 | g.31462745G>C | CA395733781 | ARMC5 | c.1198G>C (p.Asp400His) c.1483G>C (p.Asp495His) c.706G>C (p.Asp236His) c.213-27G>C c.1294G>C (p.Asp432His) | |
| 16 | g.31462745G>T | CA395733785 | ARMC5 | c.1198G>T (p.Asp400Tyr) c.1483G>T (p.Asp495Tyr) c.706G>T (p.Asp236Tyr) c.213-27G>T c.1294G>T (p.Asp432Tyr) | |
| 16 | g.31462746_31462771dup | CA2499306933 | ARMC5 | c.1199_1224dup (p.Ala409ThrfsTer?) c.1484_1509dup (p.Ala504ThrfsTer?) c.707_732dup (p.Ala245ThrfsTer?) c.213-26_213-1dup c.1295_1320dup (p.Ala441ThrfsTer?) | ClinVar gnomAD v4 |
| 16 | g.31462746A>C | CA395733788 | ARMC5 | c.1199A>C (p.Asp400Ala) c.1484A>C (p.Asp495Ala) c.707A>C (p.Asp236Ala) c.213-26A>C c.1295A>C (p.Asp432Ala) | |
| 16 | g.31462746A>G | CA395733790 | ARMC5 | c.1199A>G (p.Asp400Gly) c.1484A>G (p.Asp495Gly) c.707A>G (p.Asp236Gly) c.213-26A>G c.1295A>G (p.Asp432Gly) | |
| 16 | g.31462746A>T | CA395733791 | ARMC5 | c.1199A>T (p.Asp400Val) c.1484A>T (p.Asp495Val) c.707A>T (p.Asp236Val) c.213-26A>T c.1295A>T (p.Asp432Val) | |
| 16 | g.31462747C>A | CA395733793 | ARMC5 | c.1200C>A (p.Asp400Glu) c.1485C>A (p.Asp495Glu) c.708C>A (p.Asp236Glu) c.213-25C>A c.1296C>A (p.Asp432Glu) | |
| 16 | g.31462747C>G | CA395733795 | ARMC5 | c.1200C>G (p.Asp400Glu) c.1485C>G (p.Asp495Glu) c.708C>G (p.Asp236Glu) c.213-25C>G c.1296C>G (p.Asp432Glu) | |
| 16 | g.31462747C>T | CA494933750 | ARMC5 | c.1200C>T (p.Asp400=) c.1485C>T (p.Asp495=) c.708C>T (p.Asp236=) c.213-25C>T c.1296C>T (p.Asp432=) | |
| 16 | g.31462748A>C | CA395733797 | ARMC5 | c.1201A>C (p.Thr401Pro) c.1486A>C (p.Thr496Pro) c.709A>C (p.Thr237Pro) c.213-24A>C c.1297A>C (p.Thr433Pro) | gnomAD v4 |
| 16 | g.31462748A>G | CA395733799 | ARMC5 | c.1201A>G (p.Thr401Ala) c.1486A>G (p.Thr496Ala) c.709A>G (p.Thr237Ala) c.213-24A>G c.1297A>G (p.Thr433Ala) | gnomAD v4 |
| 16 | g.31462748A>T | CA395733801 | ARMC5 | c.1201A>T (p.Thr401Ser) c.1486A>T (p.Thr496Ser) c.709A>T (p.Thr237Ser) c.213-24A>T c.1297A>T (p.Thr433Ser) | |
| 16 | g.31462749C>A | CA395733806 | ARMC5 | c.1202C>A (p.Thr401Asn) c.1487C>A (p.Thr496Asn) c.710C>A (p.Thr237Asn) c.213-23C>A c.1298C>A (p.Thr433Asn) | |
| 16 | g.31462749C= | CA2217060756 | ARMC5 | c.1202C= (p.Thr401=) c.1487C= (p.Thr496=) c.710C= (p.Thr237=) c.213-23C= c.1298C= (p.Thr433=) | |
| 16 | g.31462749C>G | CA8029621 | ARMC5 | c.1202C>G (p.Thr401Ser) c.1487C>G (p.Thr496Ser) c.710C>G (p.Thr237Ser) c.213-23C>G c.1298C>G (p.Thr433Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462749C>T | CA395733803 | ARMC5 | c.1202C>T (p.Thr401Ile) c.1487C>T (p.Thr496Ile) c.710C>T (p.Thr237Ile) c.213-23C>T c.1298C>T (p.Thr433Ile) | gnomAD v4 |
| 16 | g.31462750T>A | CA494933752 | ARMC5 | c.1203T>A (p.Thr401=) c.1488T>A (p.Thr496=) c.711T>A (p.Thr237=) c.213-22T>A c.1299T>A (p.Thr433=) | |
| 16 | g.31462750T>C | CA494933753 | ARMC5 | c.1203T>C (p.Thr401=) c.1488T>C (p.Thr496=) c.711T>C (p.Thr237=) c.213-22T>C c.1299T>C (p.Thr433=) | gnomAD v4 |
| 16 | g.31462750T>G | CA494933756 | ARMC5 | c.1203T>G (p.Thr401=) c.1488T>G (p.Thr496=) c.711T>G (p.Thr237=) c.213-22T>G c.1299T>G (p.Thr433=) | |
| 16 | g.31462751G>A | CA395733808 | ARMC5 | c.1204G>A (p.Gly402Arg) c.1489G>A (p.Gly497Arg) c.712G>A (p.Gly238Arg) c.213-21G>A c.1300G>A (p.Gly434Arg) | |
| 16 | g.31462751G>C | CA395733811 | ARMC5 | c.1204G>C (p.Gly402Arg) c.1489G>C (p.Gly497Arg) c.712G>C (p.Gly238Arg) c.213-21G>C c.1300G>C (p.Gly434Arg) | |
| 16 | g.31462751G>T | CA395733810 | ARMC5 | c.1204G>T (p.Gly402Trp) c.1489G>T (p.Gly497Trp) c.712G>T (p.Gly238Trp) c.213-21G>T c.1300G>T (p.Gly434Trp) | |
| 16 | g.31462754dup | CA1139770930 | ARMC5 | c.1207dup (p.Ala403GlyfsTer21) c.1492dup (p.Ala498GlyfsTer21) c.715dup (p.Ala239GlyfsTer21) c.213-18dup c.1303dup (p.Ala435GlyfsTer21) | |
| 16 | g.31462752G>A | CA395733814 | ARMC5 | c.1205G>A (p.Gly402Glu) c.1490G>A (p.Gly497Glu) c.713G>A (p.Gly238Glu) c.213-20G>A c.1301G>A (p.Gly434Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462752G>C | CA8029622 | ARMC5 | c.1205G>C (p.Gly402Ala) c.1490G>C (p.Gly497Ala) c.713G>C (p.Gly238Ala) c.213-20G>C c.1301G>C (p.Gly434Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462752G= | CA2217060757 | ARMC5 | c.1205G= (p.Gly402=) c.1490G= (p.Gly497=) c.713G= (p.Gly238=) c.213-20G= c.1301G= (p.Gly434=) | |
| 16 | g.31462752G>T | CA395733816 | ARMC5 | c.1205G>T (p.Gly402Val) c.1490G>T (p.Gly497Val) c.713G>T (p.Gly238Val) c.213-20G>T c.1301G>T (p.Gly434Val) | |
| 16 | g.31462753G>A | CA494933761 | ARMC5 | c.1206G>A (p.Gly402=) c.1491G>A (p.Gly497=) c.714G>A (p.Gly238=) c.213-19G>A c.1302G>A (p.Gly434=) | dbSNP |
| 16 | g.31462753G>C | CA494933760 | ARMC5 | c.1206G>C (p.Gly402=) c.1491G>C (p.Gly497=) c.714G>C (p.Gly238=) c.213-19G>C c.1302G>C (p.Gly434=) | dbSNP gnomAD v4 |
| 16 | g.31462753G= | CA2217060758 | ARMC5 | c.1206G= (p.Gly402=) c.1491G= (p.Gly497=) c.714G= (p.Gly238=) c.213-19G= c.1302G= (p.Gly434=) | |
| 16 | g.31462753G>T | CA494933759 | ARMC5 | c.1206G>T (p.Gly402=) c.1491G>T (p.Gly497=) c.714G>T (p.Gly238=) c.213-19G>T c.1302G>T (p.Gly434=) | |
| 16 | g.31462754G>A | CA395733819 | ARMC5 | c.1207G>A (p.Ala403Thr) c.1492G>A (p.Ala498Thr) c.715G>A (p.Ala239Thr) c.213-18G>A c.1303G>A (p.Ala435Thr) | |
| 16 | g.31462754G>C | CA395733821 | ARMC5 | c.1207G>C (p.Ala403Pro) c.1492G>C (p.Ala498Pro) c.715G>C (p.Ala239Pro) c.213-18G>C c.1303G>C (p.Ala435Pro) | |
| 16 | g.31462754G>T | CA395733823 | ARMC5 | c.1207G>T (p.Ala403Ser) c.1492G>T (p.Ala498Ser) c.715G>T (p.Ala239Ser) c.213-18G>T c.1303G>T (p.Ala435Ser) | gnomAD v4 |
| 16 | g.31462755C>A | CA395733825 | ARMC5 | c.1208C>A (p.Ala403Asp) c.1493C>A (p.Ala498Asp) c.716C>A (p.Ala239Asp) c.213-17C>A c.1304C>A (p.Ala435Asp) | |
| 16 | g.31462755C>G | CA395733827 | ARMC5 | c.1208C>G (p.Ala403Gly) c.1493C>G (p.Ala498Gly) c.716C>G (p.Ala239Gly) c.213-17C>G c.1304C>G (p.Ala435Gly) | |
| 16 | g.31462755C>T | CA395733829 | ARMC5 | c.1208C>T (p.Ala403Val) c.1493C>T (p.Ala498Val) c.716C>T (p.Ala239Val) c.213-17C>T c.1304C>T (p.Ala435Val) | |
| 16 | g.31462756C>A | CA494933766 | ARMC5 | c.1209C>A (p.Ala403=) c.1494C>A (p.Ala498=) c.717C>A (p.Ala239=) c.213-16C>A c.1305C>A (p.Ala435=) | gnomAD v4 |
| 16 | g.31462756C= | CA2217060759 | ARMC5 | c.1209C= (p.Ala403=) c.1494C= (p.Ala498=) c.717C= (p.Ala239=) c.213-16C= c.1305C= (p.Ala435=) | |
| 16 | g.31462756C>G | CA494933767 | ARMC5 | c.1209C>G (p.Ala403=) c.1494C>G (p.Ala498=) c.717C>G (p.Ala239=) c.213-16C>G c.1305C>G (p.Ala435=) | gnomAD v4 |
| 16 | g.31462756C>T | CA8029623 | ARMC5 | c.1209C>T (p.Ala403=) c.1494C>T (p.Ala498=) c.717C>T (p.Ala239=) c.213-16C>T c.1305C>T (p.Ala435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462757C>A | CA395733832 | ARMC5 | c.1210C>A (p.Leu404Met) c.1495C>A (p.Leu499Met) c.718C>A (p.Leu240Met) c.213-15C>A c.1306C>A (p.Leu436Met) | |
| 16 | g.31462757C>G | CA395733834 | ARMC5 | c.1210C>G (p.Leu404Val) c.1495C>G (p.Leu499Val) c.718C>G (p.Leu240Val) c.213-15C>G c.1306C>G (p.Leu436Val) | |
| 16 | g.31462757C>T | CA494933768 | ARMC5 | c.1210C>T (p.Leu404=) c.1495C>T (p.Leu499=) c.718C>T (p.Leu240=) c.213-15C>T c.1306C>T (p.Leu436=) | |
| 16 | g.31462758T>A | CA395733836 | ARMC5 | c.1211T>A (p.Leu404Gln) c.1496T>A (p.Leu499Gln) c.719T>A (p.Leu240Gln) c.213-14T>A c.1307T>A (p.Leu436Gln) | |
| 16 | g.31462758T>C | CA395733838 | ARMC5 | c.1211T>C (p.Leu404Pro) c.1496T>C (p.Leu499Pro) c.719T>C (p.Leu240Pro) c.213-14T>C c.1307T>C (p.Leu436Pro) | |
| 16 | g.31462758T>G | CA395733840 | ARMC5 | c.1211T>G (p.Leu404Arg) c.1496T>G (p.Leu499Arg) c.719T>G (p.Leu240Arg) c.213-14T>G c.1307T>G (p.Leu436Arg) | |
| 16 | g.31462759G>A | CA494933772 | ARMC5 | c.1212G>A (p.Leu404=) c.1497G>A (p.Leu499=) c.720G>A (p.Leu240=) c.213-13G>A c.1308G>A (p.Leu436=) | |
| 16 | g.31462759G>C | CA494933773 | ARMC5 | c.1212G>C (p.Leu404=) c.1497G>C (p.Leu499=) c.720G>C (p.Leu240=) c.213-13G>C c.1308G>C (p.Leu436=) | dbSNP |
| 16 | g.31462759G= | CA2217060760 | ARMC5 | c.1212G= (p.Leu404=) c.1497G= (p.Leu499=) c.720G= (p.Leu240=) c.213-13G= c.1308G= (p.Leu436=) | |
| 16 | g.31462759G>T | CA494933777 | ARMC5 | c.1212G>T (p.Leu404=) c.1497G>T (p.Leu499=) c.720G>T (p.Leu240=) c.213-13G>T c.1308G>T (p.Leu436=) | dbSNP gnomAD v4 |
| 16 | g.31462761del | CA2695223241 | ARMC5 | c.1214del (p.Gly405AlafsTer?) c.1499del (p.Gly500AlafsTer?) c.722del (p.Gly241AlafsTer?) c.213-11del c.1310del (p.Gly437AlafsTer?) | |
| 16 | g.31462760G>A | CA8029624 | ARMC5 | c.1213G>A (p.Gly405Ser) c.1498G>A (p.Gly500Ser) c.721G>A (p.Gly241Ser) c.213-12G>A c.1309G>A (p.Gly437Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462760G>C | CA395733842 | ARMC5 | c.1213G>C (p.Gly405Arg) c.1498G>C (p.Gly500Arg) c.721G>C (p.Gly241Arg) c.213-12G>C c.1309G>C (p.Gly437Arg) | |
| 16 | g.31462760G= | CA2217060761 | ARMC5 | c.1213G= (p.Gly405=) c.1498G= (p.Gly500=) c.721G= (p.Gly241=) c.213-12G= c.1309G= (p.Gly437=) | |
| 16 | g.31462760G>T | CA395733843 | ARMC5 | c.1213G>T (p.Gly405Cys) c.1498G>T (p.Gly500Cys) c.721G>T (p.Gly241Cys) c.213-12G>T c.1309G>T (p.Gly437Cys) | |
| 16 | g.31462761G>A | CA395733845 | ARMC5 | c.1214G>A (p.Gly405Asp) c.1499G>A (p.Gly500Asp) c.722G>A (p.Gly241Asp) c.213-11G>A c.1310G>A (p.Gly437Asp) | COSMIC COSMIC |
| 16 | g.31462761G>C | CA395733847 | ARMC5 | c.1214G>C (p.Gly405Ala) c.1499G>C (p.Gly500Ala) c.722G>C (p.Gly241Ala) c.213-11G>C c.1310G>C (p.Gly437Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462761G= | CA2217060762 | ARMC5 | c.1214G= (p.Gly405=) c.1499G= (p.Gly500=) c.722G= (p.Gly241=) c.213-11G= c.1310G= (p.Gly437=) | |
| 16 | g.31462761G>T | CA395733848 | ARMC5 | c.1214G>T (p.Gly405Val) c.1499G>T (p.Gly500Val) c.722G>T (p.Gly241Val) c.213-11G>T c.1310G>T (p.Gly437Val) | |
| 16 | g.31462762C>A | CA494933782 | ARMC5 | c.1215C>A (p.Gly405=) c.1500C>A (p.Gly500=) c.723C>A (p.Gly241=) c.213-10C>A c.1311C>A (p.Gly437=) | |
| 16 | g.31462762C= | CA2217060763 | ARMC5 | c.1215C= (p.Gly405=) c.1500C= (p.Gly500=) c.723C= (p.Gly241=) c.213-10C= c.1311C= (p.Gly437=) | |
| 16 | g.31462762C>G | CA494933783 | ARMC5 | c.1215C>G (p.Gly405=) c.1500C>G (p.Gly500=) c.723C>G (p.Gly241=) c.213-10C>G c.1311C>G (p.Gly437=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462762C>T | CA494933784 | ARMC5 | c.1215C>T (p.Gly405=) c.1500C>T (p.Gly500=) c.723C>T (p.Gly241=) c.213-10C>T c.1311C>T (p.Gly437=) | COSMIC COSMIC |
| 16 | g.31462763C>A | CA494933785 | ARMC5 | c.1216C>A (p.Arg406=) c.1501C>A (p.Arg501=) c.724C>A (p.Arg242=) c.213-9C>A c.1312C>A (p.Arg438=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31462763C= | CA2217060764 | ARMC5 | c.1216C= (p.Arg406=) c.1501C= (p.Arg501=) c.724C= (p.Arg242=) c.213-9C= c.1312C= (p.Arg438=) | |
| 16 | g.31462763C>G | CA395733850 | ARMC5 | c.1216C>G (p.Arg406Gly) c.1501C>G (p.Arg501Gly) c.724C>G (p.Arg242Gly) c.213-9C>G c.1312C>G (p.Arg438Gly) | |
| 16 | g.31462763C>T | CA8029625 | ARMC5 | c.1216C>T (p.Arg406Trp) c.1501C>T (p.Arg501Trp) c.724C>T (p.Arg242Trp) c.213-9C>T c.1312C>T (p.Arg438Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 16 | g.31462764G>A | CA8029626 | ARMC5 | c.1217G>A (p.Arg406Gln) c.1502G>A (p.Arg501Gln) c.725G>A (p.Arg242Gln) c.213-8G>A c.1313G>A (p.Arg438Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462764G>C | CA395733854 | ARMC5 | c.1217G>C (p.Arg406Pro) c.1502G>C (p.Arg501Pro) c.725G>C (p.Arg242Pro) c.213-8G>C c.1313G>C (p.Arg438Pro) | |
| 16 | g.31462764G= | CA2217060765 | ARMC5 | c.1217G= (p.Arg406=) c.1502G= (p.Arg501=) c.725G= (p.Arg242=) c.213-8G= c.1313G= (p.Arg438=) | |
| 16 | g.31462764G>T | CA395733856 | ARMC5 | c.1217G>T (p.Arg406Leu) c.1502G>T (p.Arg501Leu) c.725G>T (p.Arg242Leu) c.213-8G>T c.1313G>T (p.Arg438Leu) | |
| 16 | g.31462765G>A | CA8029627 | ARMC5 | c.1218G>A (p.Arg406=) c.1503G>A (p.Arg501=) c.726G>A (p.Arg242=) c.213-7G>A c.1314G>A (p.Arg438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.31462765G>C | CA494933793 | ARMC5 | c.1218G>C (p.Arg406=) c.1503G>C (p.Arg501=) c.726G>C (p.Arg242=) c.213-7G>C c.1314G>C (p.Arg438=) | |
| 16 | g.31462765G= | CA2217060766 | ARMC5 | c.1218G= (p.Arg406=) c.1503G= (p.Arg501=) c.726G= (p.Arg242=) c.213-7G= c.1314G= (p.Arg438=) | |
| 16 | g.31462765G>T | CA494933794 | ARMC5 | c.1218G>T (p.Arg406=) c.1503G>T (p.Arg501=) c.726G>T (p.Arg242=) c.213-7G>T c.1314G>T (p.Arg438=) | gnomAD v4 |
| 16 | g.31462766C>A | CA395733860 | ARMC5 | c.1219C>A (p.Leu407Met) c.1504C>A (p.Leu502Met) c.727C>A (p.Leu243Met) c.213-6C>A c.1315C>A (p.Leu439Met) | |
| 16 | g.31462766C>G | CA395733862 | ARMC5 | c.1219C>G (p.Leu407Val) c.1504C>G (p.Leu502Val) c.727C>G (p.Leu243Val) c.213-6C>G c.1315C>G (p.Leu439Val) | |
| 16 | g.31462766C>T | CA494933796 | ARMC5 | c.1219C>T (p.Leu407=) c.1504C>T (p.Leu502=) c.727C>T (p.Leu243=) c.213-6C>T c.1315C>T (p.Leu439=) | |
| 16 | g.31462767T>A | CA395733866 | ARMC5 | c.1220T>A (p.Leu407Gln) c.1505T>A (p.Leu502Gln) c.728T>A (p.Leu243Gln) c.213-5T>A c.1316T>A (p.Leu439Gln) | |
| 16 | g.31462767T>C | CA395733865 | ARMC5 | c.1220T>C (p.Leu407Pro) c.1505T>C (p.Leu502Pro) c.728T>C (p.Leu243Pro) c.213-5T>C c.1316T>C (p.Leu439Pro) | |
| 16 | g.31462767T>G | CA395733864 | ARMC5 | c.1220T>G (p.Leu407Arg) c.1505T>G (p.Leu502Arg) c.728T>G (p.Leu243Arg) c.213-5T>G c.1316T>G (p.Leu439Arg) | |
| 16 | g.31462768G>A | CA494933798 | ARMC5 | c.1221G>A (p.Leu407=) c.1506G>A (p.Leu502=) c.729G>A (p.Leu243=) c.213-4G>A c.1317G>A (p.Leu439=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31462768G>C | CA494933800 | ARMC5 | c.1221G>C (p.Leu407=) c.1506G>C (p.Leu502=) c.729G>C (p.Leu243=) c.213-4G>C c.1317G>C (p.Leu439=) | |
| 16 | g.31462768G= | CA2217060767 | ARMC5 | c.1221G= (p.Leu407=) c.1506G= (p.Leu502=) c.729G= (p.Leu243=) c.213-4G= c.1317G= (p.Leu439=) | |
| 16 | g.31462768G>T | CA494933802 | ARMC5 | c.1221G>T (p.Leu407=) c.1506G>T (p.Leu502=) c.729G>T (p.Leu243=) c.213-4G>T c.1317G>T (p.Leu439=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462769C>A | CA395733873 | ARMC5 | c.1222C>A (p.Gln408Lys) c.1507C>A (p.Gln503Lys) c.730C>A (p.Gln244Lys) c.213-3C>A c.1318C>A (p.Gln440Lys) | |
| 16 | g.31462769C= | CA2217060768 | ARMC5 | c.1222C= (p.Gln408=) c.1507C= (p.Gln503=) c.730C= (p.Gln244=) c.213-3C= c.1318C= (p.Gln440=) | |
| 16 | g.31462769C>G | CA395733868 | ARMC5 | c.1222C>G (p.Gln408Glu) c.1507C>G (p.Gln503Glu) c.730C>G (p.Gln244Glu) c.213-3C>G c.1318C>G (p.Gln440Glu) | |
| 16 | g.31462769C>T | CA395733870 | ARMC5 | c.1222C>T (p.Gln408Ter) c.1507C>T (p.Gln503Ter) c.730C>T (p.Gln244Ter) c.213-3C>T c.1318C>T (p.Gln440Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462770A= | CA2217060769 | ARMC5 | c.1223A= (p.Gln408=) c.1508A= (p.Gln503=) c.731A= (p.Gln244=) c.213-2A= c.1319A= (p.Gln440=) | |
| 16 | g.31462770A>C | CA395733875 | ARMC5 | c.1223A>C (p.Gln408Pro) c.1508A>C (p.Gln503Pro) c.731A>C (p.Gln244Pro) c.213-2A>C c.1319A>C (p.Gln440Pro) | |
| 16 | g.31462770A>G | CA8029628 | ARMC5 | c.1223A>G (p.Gln408Arg) c.1508A>G (p.Gln503Arg) c.731A>G (p.Gln244Arg) c.213-2A>G c.1319A>G (p.Gln440Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462770A>T | CA395733878 | ARMC5 | c.1223A>T (p.Gln408Leu) c.1508A>T (p.Gln503Leu) c.731A>T (p.Gln244Leu) c.213-2A>T c.1319A>T (p.Gln440Leu) |