Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37075192T>A | CA411422006 | TMPRSS6 | c.1285A>T (p.Ile429Phe) c.1312A>T (p.Ile438Phe) c.853A>T (p.Ile285Phe) | |
22 | g.37075192T>C | CA411422007 | TMPRSS6 | c.1285A>G (p.Ile429Val) c.1312A>G (p.Ile438Val) c.853A>G (p.Ile285Val) | |
22 | g.37075192T>G | CA411422009 | TMPRSS6 | c.1285A>C (p.Ile429Leu) c.1312A>C (p.Ile438Leu) c.853A>C (p.Ile285Leu) | |
22 | g.37075193C>A | CA411422011 | TMPRSS6 | c.1284G>T (p.Gln428His) c.1311G>T (p.Gln437His) c.852G>T (p.Gln284His) | |
22 | g.37075193C>G | CA411422013 | TMPRSS6 | c.1284G>C (p.Gln428His) c.1311G>C (p.Gln437His) c.852G>C (p.Gln284His) | gnomAD v4 |
22 | g.37075193C>T | CA514482570 | TMPRSS6 | c.1284G>A (p.Gln428=) c.1311G>A (p.Gln437=) c.852G>A (p.Gln284=) | |
22 | g.37075194T>A | CA411422015 | TMPRSS6 | c.1283A>T (p.Gln428Leu) c.1310A>T (p.Gln437Leu) c.851A>T (p.Gln284Leu) | |
22 | g.37075194T>C | CA411422016 | TMPRSS6 | c.1283A>G (p.Gln428Arg) c.1310A>G (p.Gln437Arg) c.851A>G (p.Gln284Arg) | |
22 | g.37075194T>G | CA411422018 | TMPRSS6 | c.1283A>C (p.Gln428Pro) c.1310A>C (p.Gln437Pro) c.851A>C (p.Gln284Pro) | |
22 | g.37075195G>A | CA411422024 | TMPRSS6 | c.1282C>T (p.Gln428Ter) c.1309C>T (p.Gln437Ter) c.850C>T (p.Gln284Ter) | |
22 | g.37075195G>C | CA411422022 | TMPRSS6 | c.1282C>G (p.Gln428Glu) c.1309C>G (p.Gln437Glu) c.850C>G (p.Gln284Glu) | |
22 | g.37075195G>T | CA411422020 | TMPRSS6 | c.1282C>A (p.Gln428Lys) c.1309C>A (p.Gln437Lys) c.850C>A (p.Gln284Lys) | COSMIC COSMIC |
22 | g.37075196G>A | CA514482572 | TMPRSS6 | c.1281C>T (p.Ser427=) c.1308C>T (p.Ser436=) c.849C>T (p.Ser283=) | |
22 | g.37075196G>C | CA514482573 | TMPRSS6 | c.1281C>G (p.Ser427=) c.1308C>G (p.Ser436=) c.849C>G (p.Ser283=) | |
22 | g.37075196G>T | CA514482574 | TMPRSS6 | c.1281C>A (p.Ser427=) c.1308C>A (p.Ser436=) c.849C>A (p.Ser283=) | |
22 | g.37075197G>A | CA324050264 | TMPRSS6 | c.1280C>T (p.Ser427Phe) c.1307C>T (p.Ser436Phe) c.848C>T (p.Ser283Phe) | dbSNP |
22 | g.37075197G>C | CA411422027 | TMPRSS6 | c.1280C>G (p.Ser427Cys) c.1307C>G (p.Ser436Cys) c.848C>G (p.Ser283Cys) | |
22 | g.37075197G= | CA2404171281 | TMPRSS6 | c.1280C= (p.Ser427=) c.1307C= (p.Ser436=) c.848C= (p.Ser283=) | |
22 | g.37075197G>T | CA411422028 | TMPRSS6 | c.1280C>A (p.Ser427Tyr) c.1307C>A (p.Ser436Tyr) c.848C>A (p.Ser283Tyr) | |
22 | g.37075198A>C | CA411422030 | TMPRSS6 | c.1279T>G (p.Ser427Ala) c.1306T>G (p.Ser436Ala) c.847T>G (p.Ser283Ala) | |
22 | g.37075198A>G | CA411422032 | TMPRSS6 | c.1279T>C (p.Ser427Pro) c.1306T>C (p.Ser436Pro) c.847T>C (p.Ser283Pro) | |
22 | g.37075198A>T | CA411422034 | TMPRSS6 | c.1279T>A (p.Ser427Thr) c.1306T>A (p.Ser436Thr) c.847T>A (p.Ser283Thr) | |
22 | g.37075199G>A | CA514482579 | TMPRSS6 | c.1278C>T (p.Thr426=) c.1305C>T (p.Thr435=) c.846C>T (p.Thr282=) | gnomAD v4 |
22 | g.37075199G>C | CA514482578 | TMPRSS6 | c.1278C>G (p.Thr426=) c.1305C>G (p.Thr435=) c.846C>G (p.Thr282=) | |
22 | g.37075199G>T | CA514482577 | TMPRSS6 | c.1278C>A (p.Thr426=) c.1305C>A (p.Thr435=) c.846C>A (p.Thr282=) | |
22 | g.37075200G>A | CA10215672 | TMPRSS6 | c.1277C>T (p.Thr426Ile) c.1304C>T (p.Thr435Ile) c.845C>T (p.Thr282Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075200G>C | CA411422036 | TMPRSS6 | c.1277C>G (p.Thr426Ser) c.1304C>G (p.Thr435Ser) c.845C>G (p.Thr282Ser) | |
22 | g.37075200G= | CA2404171282 | TMPRSS6 | c.1277C= (p.Thr426=) c.1304C= (p.Thr435=) c.845C= (p.Thr282=) | |
22 | g.37075200G>T | CA411422038 | TMPRSS6 | c.1277C>A (p.Thr426Asn) c.1304C>A (p.Thr435Asn) c.845C>A (p.Thr282Asn) | |
22 | g.37075201T>A | CA411422040 | TMPRSS6 | c.1276A>T (p.Thr426Ser) c.1303A>T (p.Thr435Ser) c.844A>T (p.Thr282Ser) | |
22 | g.37075201T>C | CA411422042 | TMPRSS6 | c.1276A>G (p.Thr426Ala) c.1303A>G (p.Thr435Ala) c.844A>G (p.Thr282Ala) | |
22 | g.37075201T>G | CA411422044 | TMPRSS6 | c.1276A>C (p.Thr426Pro) c.1303A>C (p.Thr435Pro) c.844A>C (p.Thr282Pro) | |
22 | g.37075202G>A | CA514482583 | TMPRSS6 | c.1275C>T (p.Phe425=) c.1302C>T (p.Phe434=) c.843C>T (p.Phe281=) | |
22 | g.37075202G>C | CA411422045 | TMPRSS6 | c.1275C>G (p.Phe425Leu) c.1302C>G (p.Phe434Leu) c.843C>G (p.Phe281Leu) | |
22 | g.37075202G>T | CA411422046 | TMPRSS6 | c.1275C>A (p.Phe425Leu) c.1302C>A (p.Phe434Leu) c.843C>A (p.Phe281Leu) | |
22 | g.37075203A>C | CA411422049 | TMPRSS6 | c.1274T>G (p.Phe425Cys) c.1301T>G (p.Phe434Cys) c.842T>G (p.Phe281Cys) | |
22 | g.37075203A>G | CA411422051 | TMPRSS6 | c.1274T>C (p.Phe425Ser) c.1301T>C (p.Phe434Ser) c.842T>C (p.Phe281Ser) | |
22 | g.37075203A>T | CA411422050 | TMPRSS6 | c.1274T>A (p.Phe425Tyr) c.1301T>A (p.Phe434Tyr) c.842T>A (p.Phe281Tyr) | |
22 | g.37075204A>C | CA411422052 | TMPRSS6 | c.1273T>G (p.Phe425Val) c.1300T>G (p.Phe434Val) c.841T>G (p.Phe281Val) | |
22 | g.37075204A>G | CA411422054 | TMPRSS6 | c.1273T>C (p.Phe425Leu) c.1300T>C (p.Phe434Leu) c.841T>C (p.Phe281Leu) | |
22 | g.37075204A>T | CA411422056 | TMPRSS6 | c.1273T>A (p.Phe425Ile) c.1300T>A (p.Phe434Ile) c.841T>A (p.Phe281Ile) | |
22 | g.37075205G>A | CA514482584 | TMPRSS6 | c.1272C>T (p.Asn424=) c.1299C>T (p.Asn433=) c.840C>T (p.Asn280=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075205G>C | CA411422058 | TMPRSS6 | c.1272C>G (p.Asn424Lys) c.1299C>G (p.Asn433Lys) c.840C>G (p.Asn280Lys) | |
22 | g.37075205G= | CA2404171283 | TMPRSS6 | c.1272C= (p.Asn424=) c.1299C= (p.Asn433=) c.840C= (p.Asn280=) | |
22 | g.37075205G>T | CA411422060 | TMPRSS6 | c.1272C>A (p.Asn424Lys) c.1299C>A (p.Asn433Lys) c.840C>A (p.Asn280Lys) | |
22 | g.37075206T>A | CA411422062 | TMPRSS6 | c.1271A>T (p.Asn424Ile) c.1298A>T (p.Asn433Ile) c.839A>T (p.Asn280Ile) | |
22 | g.37075206T>C | CA411422064 | TMPRSS6 | c.1271A>G (p.Asn424Ser) c.1298A>G (p.Asn433Ser) c.839A>G (p.Asn280Ser) | |
22 | g.37075206T>G | CA411422067 | TMPRSS6 | c.1271A>C (p.Asn424Thr) c.1298A>C (p.Asn433Thr) c.839A>C (p.Asn280Thr) | |
22 | g.37075207T>A | CA411422069 | TMPRSS6 | c.1270A>T (p.Asn424Tyr) c.1297A>T (p.Asn433Tyr) c.838A>T (p.Asn280Tyr) | |
22 | g.37075207T>C | CA411422071 | TMPRSS6 | c.1270A>G (p.Asn424Asp) c.1297A>G (p.Asn433Asp) c.838A>G (p.Asn280Asp) | |
22 | g.37075207T>G | CA411422073 | TMPRSS6 | c.1270A>C (p.Asn424His) c.1297A>C (p.Asn433His) c.838A>C (p.Asn280His) | dbSNP gnomAD v2 |
22 | g.37075207T= | CA2404171284 | TMPRSS6 | c.1270A= (p.Asn424=) c.1297A= (p.Asn433=) c.838A= (p.Asn280=) | |
22 | g.37075208G>A | CA514482586 | TMPRSS6 | c.1269C>T (p.Ile423=) c.1296C>T (p.Ile432=) c.837C>T (p.Ile279=) | |
22 | g.37075208G>C | CA411422075 | TMPRSS6 | c.1269C>G (p.Ile423Met) c.1296C>G (p.Ile432Met) c.837C>G (p.Ile279Met) | |
22 | g.37075208G>T | CA514482587 | TMPRSS6 | c.1269C>A (p.Ile423=) c.1296C>A (p.Ile432=) c.837C>A (p.Ile279=) | |
22 | g.37075209A>C | CA411422078 | TMPRSS6 | c.1268T>G (p.Ile423Ser) c.1295T>G (p.Ile432Ser) c.836T>G (p.Ile279Ser) | |
22 | g.37075209A>G | CA411422077 | TMPRSS6 | c.1268T>C (p.Ile423Thr) c.1295T>C (p.Ile432Thr) c.836T>C (p.Ile279Thr) | |
22 | g.37075209A>T | CA411422080 | TMPRSS6 | c.1268T>A (p.Ile423Asn) c.1295T>A (p.Ile432Asn) c.836T>A (p.Ile279Asn) | |
22 | g.37075210T>A | CA411422082 | TMPRSS6 | c.1267A>T (p.Ile423Phe) c.1294A>T (p.Ile432Phe) c.835A>T (p.Ile279Phe) | |
22 | g.37075210T>C | CA411422085 | TMPRSS6 | c.1267A>G (p.Ile423Val) c.1294A>G (p.Ile432Val) c.835A>G (p.Ile279Val) | |
22 | g.37075210T>G | CA411422087 | TMPRSS6 | c.1267A>C (p.Ile423Leu) c.1294A>C (p.Ile432Leu) c.835A>C (p.Ile279Leu) | |
22 | g.37075211G>A | CA324050272 | TMPRSS6 | c.1266C>T (p.Thr422=) c.1293C>T (p.Thr431=) c.834C>T (p.Thr278=) | dbSNP |
22 | g.37075211G>C | CA514482588 | TMPRSS6 | c.1266C>G (p.Thr422=) c.1293C>G (p.Thr431=) c.834C>G (p.Thr278=) | |
22 | g.37075211G= | CA2404171285 | TMPRSS6 | c.1266C= (p.Thr422=) c.1293C= (p.Thr431=) c.834C= (p.Thr278=) | |
22 | g.37075211G>T | CA514482589 | TMPRSS6 | c.1266C>A (p.Thr422=) c.1293C>A (p.Thr431=) c.834C>A (p.Thr278=) | |
22 | g.37075212G>A | CA411422089 | TMPRSS6 | c.1265C>T (p.Thr422Ile) c.1292C>T (p.Thr431Ile) c.833C>T (p.Thr278Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075212G>C | CA411422091 | TMPRSS6 | c.1265C>G (p.Thr422Ser) c.1292C>G (p.Thr431Ser) c.833C>G (p.Thr278Ser) | |
22 | g.37075212G= | CA2404171286 | TMPRSS6 | c.1265C= (p.Thr422=) c.1292C= (p.Thr431=) c.833C= (p.Thr278=) | |
22 | g.37075212G>T | CA411422093 | TMPRSS6 | c.1265C>A (p.Thr422Asn) c.1292C>A (p.Thr431Asn) c.833C>A (p.Thr278Asn) | |
22 | g.37075213T>A | CA411422095 | TMPRSS6 | c.1264A>T (p.Thr422Ser) c.1291A>T (p.Thr431Ser) c.832A>T (p.Thr278Ser) | |
22 | g.37075213T>C | CA411422097 | TMPRSS6 | c.1264A>G (p.Thr422Ala) c.1291A>G (p.Thr431Ala) c.832A>G (p.Thr278Ala) | |
22 | g.37075213T>G | CA411422099 | TMPRSS6 | c.1264A>C (p.Thr422Pro) c.1291A>C (p.Thr431Pro) c.832A>C (p.Thr278Pro) | |
22 | g.37075214G>A | CA514482591 | TMPRSS6 | c.1263C>T (p.Ile421=) c.1290C>T (p.Ile430=) c.831C>T (p.Ile277=) | |
22 | g.37075214G>C | CA411422101 | TMPRSS6 | c.1263C>G (p.Ile421Met) c.1290C>G (p.Ile430Met) c.831C>G (p.Ile277Met) | |
22 | g.37075214G>T | CA514482590 | TMPRSS6 | c.1263C>A (p.Ile421=) c.1290C>A (p.Ile430=) c.831C>A (p.Ile277=) | |
22 | g.37075215A= | CA2404171287 | TMPRSS6 | c.1262T= (p.Ile421=) c.1289T= (p.Ile430=) c.830T= (p.Ile277=) | |
22 | g.37075215A>C | CA411422102 | TMPRSS6 | c.1262T>G (p.Ile421Ser) c.1289T>G (p.Ile430Ser) c.830T>G (p.Ile277Ser) | |
22 | g.37075215A>G | CA324050284 | TMPRSS6 | c.1262T>C (p.Ile421Thr) c.1289T>C (p.Ile430Thr) c.830T>C (p.Ile277Thr) | dbSNP |
22 | g.37075215A>T | CA411422104 | TMPRSS6 | c.1262T>A (p.Ile421Asn) c.1289T>A (p.Ile430Asn) c.830T>A (p.Ile277Asn) | |
22 | g.37075216T>A | CA411422111 | TMPRSS6 | c.1261A>T (p.Ile421Phe) c.1288A>T (p.Ile430Phe) c.829A>T (p.Ile277Phe) | |
22 | g.37075216T>C | CA411422109 | TMPRSS6 | c.1261A>G (p.Ile421Val) c.1288A>G (p.Ile430Val) c.829A>G (p.Ile277Val) | |
22 | g.37075216T>G | CA411422107 | TMPRSS6 | c.1261A>C (p.Ile421Leu) c.1288A>C (p.Ile430Leu) c.829A>C (p.Ile277Leu) | |
22 | g.37075216_37075217dup | CA645609238 | TMPRSS6 | c.1260_1261dup (p.Ile421ArgfsTer?) c.1287_1288dup (p.Ile430ArgfsTer?) c.828_829dup (p.Ile277ArgfsTer?) | COSMIC COSMIC |
22 | g.37075217C>A | CA514482593 | TMPRSS6 | c.1260G>T (p.Gly420=) c.1287G>T (p.Gly429=) c.828G>T (p.Gly276=) | |
22 | g.37075217C>G | CA514482594 | TMPRSS6 | c.1260G>C (p.Gly420=) c.1287G>C (p.Gly429=) c.828G>C (p.Gly276=) | |
22 | g.37075217C>T | CA514482595 | TMPRSS6 | c.1260G>A (p.Gly420=) c.1287G>A (p.Gly429=) c.828G>A (p.Gly276=) | |
22 | g.37075218C>A | CA411422113 | TMPRSS6 | c.1259G>T (p.Gly420Val) c.1286G>T (p.Gly429Val) c.827G>T (p.Gly276Val) | |
22 | g.37075218C>G | CA411422115 | TMPRSS6 | c.1259G>C (p.Gly420Ala) c.1286G>C (p.Gly429Ala) c.827G>C (p.Gly276Ala) | |
22 | g.37075218C>T | CA411422117 | TMPRSS6 | c.1259G>A (p.Gly420Glu) c.1286G>A (p.Gly429Glu) c.827G>A (p.Gly276Glu) | COSMIC COSMIC |
22 | g.37075219C>A | CA324050285 | TMPRSS6 | c.1258G>T (p.Gly420Trp) c.1285G>T (p.Gly429Trp) c.826G>T (p.Gly276Trp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075219C= | CA2404171288 | TMPRSS6 | c.1258G= (p.Gly420=) c.1285G= (p.Gly429=) c.826G= (p.Gly276=) | |
22 | g.37075219C>G | CA411422120 | TMPRSS6 | c.1258G>C (p.Gly420Arg) c.1285G>C (p.Gly429Arg) c.826G>C (p.Gly276Arg) | |
22 | g.37075219C>T | CA10215673 | TMPRSS6 | c.1258G>A (p.Gly420Arg) c.1285G>A (p.Gly429Arg) c.826G>A (p.Gly276Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075220G>A | CA10215674 | TMPRSS6 | c.1257C>T (p.Ala419=) c.1284C>T (p.Ala428=) c.825C>T (p.Ala275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.37075220G>C | CA514482596 | TMPRSS6 | c.1257C>G (p.Ala419=) c.1284C>G (p.Ala428=) c.825C>G (p.Ala275=) | gnomAD v4 |
22 | g.37075220G= | CA2404171289 | TMPRSS6 | c.1257C= (p.Ala419=) c.1284C= (p.Ala428=) c.825C= (p.Ala275=) | |
22 | g.37075220G>T | CA514482597 | TMPRSS6 | c.1257C>A (p.Ala419=) c.1284C>A (p.Ala428=) c.825C>A (p.Ala275=) | |
22 | g.37075221G>A | CA411422126 | TMPRSS6 | c.1256C>T (p.Ala419Val) c.1283C>T (p.Ala428Val) c.824C>T (p.Ala275Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075221G>C | CA411422127 | TMPRSS6 | c.1256C>G (p.Ala419Gly) c.1283C>G (p.Ala428Gly) c.824C>G (p.Ala275Gly) | |
22 | g.37075221G= | CA2404171290 | TMPRSS6 | c.1256C= (p.Ala419=) c.1283C= (p.Ala428=) c.824C= (p.Ala275=) | |
22 | g.37075221G>T | CA411422129 | TMPRSS6 | c.1256C>A (p.Ala419Asp) c.1283C>A (p.Ala428Asp) c.824C>A (p.Ala275Asp) | gnomAD v4 |
22 | g.37075222C>A | CA411422132 | TMPRSS6 | c.1255G>T (p.Ala419Ser) c.1282G>T (p.Ala428Ser) c.823G>T (p.Ala275Ser) | |
22 | g.37075222C>G | CA411422133 | TMPRSS6 | c.1255G>C (p.Ala419Pro) c.1282G>C (p.Ala428Pro) c.823G>C (p.Ala275Pro) | |
22 | g.37075222C>T | CA411422135 | TMPRSS6 | c.1255G>A (p.Ala419Thr) c.1282G>A (p.Ala428Thr) c.823G>A (p.Ala275Thr) | |
22 | g.37075223C>A | CA514482598 | TMPRSS6 | c.1254G>T (p.Thr418=) c.1281G>T (p.Thr427=) c.822G>T (p.Thr274=) | |
22 | g.37075223C= | CA2404171291 | TMPRSS6 | c.1254G= (p.Thr418=) c.1281G= (p.Thr427=) c.822G= (p.Thr274=) | |
22 | g.37075223C>G | CA514482599 | TMPRSS6 | c.1254G>C (p.Thr418=) c.1281G>C (p.Thr427=) c.822G>C (p.Thr274=) | |
22 | g.37075223C>T | CA10215675 | TMPRSS6 | c.1254G>A (p.Thr418=) c.1281G>A (p.Thr427=) c.822G>A (p.Thr274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075224G>A | CA10215676 | TMPRSS6 | c.1253C>T (p.Thr418Met) c.1280C>T (p.Thr427Met) c.821C>T (p.Thr274Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075224G>C | CA411422141 | TMPRSS6 | c.1253C>G (p.Thr418Arg) c.1280C>G (p.Thr427Arg) c.821C>G (p.Thr274Arg) | |
22 | g.37075224G= | CA2404171292 | TMPRSS6 | c.1253C= (p.Thr418=) c.1280C= (p.Thr427=) c.821C= (p.Thr274=) | |
22 | g.37075224G>T | CA411422140 | TMPRSS6 | c.1253C>A (p.Thr418Lys) c.1280C>A (p.Thr427Lys) c.821C>A (p.Thr274Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
22 | g.37075225T>A | CA411422143 | TMPRSS6 | c.1252A>T (p.Thr418Ser) c.1279A>T (p.Thr427Ser) c.820A>T (p.Thr274Ser) | |
22 | g.37075225T>C | CA411422144 | TMPRSS6 | c.1252A>G (p.Thr418Ala) c.1279A>G (p.Thr427Ala) c.820A>G (p.Thr274Ala) | |
22 | g.37075225T>G | CA411422145 | TMPRSS6 | c.1252A>C (p.Thr418Pro) c.1279A>C (p.Thr427Pro) c.820A>C (p.Thr274Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075225_37075226delinsTG | CA2404171293 | TMPRSS6 | c.1251_1252delinsCA (p.Ala417=) c.1278_1279delinsCA (p.Ala426=) c.819_820delinsCA (p.Ala273=) | |
22 | g.37075226G>A | CA514482600 | TMPRSS6 | c.1251C>T (p.Ala417=) c.1278C>T (p.Ala426=) c.819C>T (p.Ala273=) | dbSNP |
22 | g.37075226G>C | CA514482602 | TMPRSS6 | c.1251C>G (p.Ala417=) c.1278C>G (p.Ala426=) c.819C>G (p.Ala273=) | |
22 | g.37075226G= | CA2404171294 | TMPRSS6 | c.1251C= (p.Ala417=) c.1278C= (p.Ala426=) c.819C= (p.Ala273=) | |
22 | g.37075226G>T | CA514482601 | TMPRSS6 | c.1251C>A (p.Ala417=) c.1278C>A (p.Ala426=) c.819C>A (p.Ala273=) | |
22 | g.37075227del | CA752943207 | TMPRSS6 | c.1251del (p.Thr418ArgfsTer?) c.1278del (p.Thr427ArgfsTer?) c.819del (p.Thr274ArgfsTer?) | dbSNP |
22 | g.37075227G>A | CA411422147 | TMPRSS6 | c.1250C>T (p.Ala417Val) c.1277C>T (p.Ala426Val) c.818C>T (p.Ala273Val) | |
22 | g.37075227G>C | CA411422149 | TMPRSS6 | c.1250C>G (p.Ala417Gly) c.1277C>G (p.Ala426Gly) c.818C>G (p.Ala273Gly) | |
22 | g.37075227G>T | CA411422151 | TMPRSS6 | c.1250C>A (p.Ala417Asp) c.1277C>A (p.Ala426Asp) c.818C>A (p.Ala273Asp) | |
22 | g.37075228C>A | CA411422153 | TMPRSS6 | c.1249G>T (p.Ala417Ser) c.1276G>T (p.Ala426Ser) c.817G>T (p.Ala273Ser) | |
22 | g.37075228C= | CA2404171295 | TMPRSS6 | c.1249G= (p.Ala417=) c.1276G= (p.Ala426=) c.817G= (p.Ala273=) | |
22 | g.37075228C>G | CA411422155 | TMPRSS6 | c.1249G>C (p.Ala417Pro) c.1276G>C (p.Ala426Pro) c.817G>C (p.Ala273Pro) | |
22 | g.37075228C>T | CA411422156 | TMPRSS6 | c.1249G>A (p.Ala417Thr) c.1276G>A (p.Ala426Thr) c.817G>A (p.Ala273Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075229C>A | CA514482603 | TMPRSS6 | c.1248G>T (p.Val416=) c.1275G>T (p.Val425=) c.816G>T (p.Val272=) | |
22 | g.37075229C>G | CA514482604 | TMPRSS6 | c.1248G>C (p.Val416=) c.1275G>C (p.Val425=) c.816G>C (p.Val272=) | |
22 | g.37075229C>T | CA514482605 | TMPRSS6 | c.1248G>A (p.Val416=) c.1275G>A (p.Val425=) c.816G>A (p.Val272=) | gnomAD v4 |
22 | g.37075230A>C | CA411422159 | TMPRSS6 | c.1247T>G (p.Val416Gly) c.1274T>G (p.Val425Gly) c.815T>G (p.Val272Gly) | |
22 | g.37075230A>G | CA411422160 | TMPRSS6 | c.1247T>C (p.Val416Ala) c.1274T>C (p.Val425Ala) c.815T>C (p.Val272Ala) | |
22 | g.37075230A>T | CA411422162 | TMPRSS6 | c.1247T>A (p.Val416Glu) c.1274T>A (p.Val425Glu) c.815T>A (p.Val272Glu) | |
22 | g.37075231C>A | CA411422167 | TMPRSS6 | c.1246G>T (p.Val416Leu) c.1273G>T (p.Val425Leu) c.814G>T (p.Val272Leu) | |
22 | g.37075231C= | CA2404171296 | TMPRSS6 | c.1246G= (p.Val416=) c.1273G= (p.Val425=) c.814G= (p.Val272=) | |
22 | g.37075231C>G | CA411422166 | TMPRSS6 | c.1246G>C (p.Val416Leu) c.1273G>C (p.Val425Leu) c.814G>C (p.Val272Leu) | |
22 | g.37075231C>T | CA411422164 | TMPRSS6 | c.1246G>A (p.Val416Met) c.1273G>A (p.Val425Met) c.814G>A (p.Val272Met) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075232C>A | CA514482606 | TMPRSS6 | c.1245G>T (p.Val415=) c.1272G>T (p.Val424=) c.813G>T (p.Val271=) | |
22 | g.37075232C>G | CA514482607 | TMPRSS6 | c.1245G>C (p.Val415=) c.1272G>C (p.Val424=) c.813G>C (p.Val271=) | |
22 | g.37075232C>T | CA514482608 | TMPRSS6 | c.1245G>A (p.Val415=) c.1272G>A (p.Val424=) c.813G>A (p.Val271=) | |
22 | g.37075233A>C | CA411422168 | TMPRSS6 | c.1244T>G (p.Val415Gly) c.1271T>G (p.Val424Gly) c.812T>G (p.Val271Gly) | gnomAD v4 |
22 | g.37075233A>G | CA411422169 | TMPRSS6 | c.1244T>C (p.Val415Ala) c.1271T>C (p.Val424Ala) c.812T>C (p.Val271Ala) | |
22 | g.37075233A>T | CA411422174 | TMPRSS6 | c.1244T>A (p.Val415Glu) c.1271T>A (p.Val424Glu) c.812T>A (p.Val271Glu) | |
22 | g.37075234C>A | CA411422176 | TMPRSS6 | c.1243G>T (p.Val415Leu) c.1270G>T (p.Val424Leu) c.811G>T (p.Val271Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.37075234C= | CA2404171297 | TMPRSS6 | c.1243G= (p.Val415=) c.1270G= (p.Val424=) c.811G= (p.Val271=) | |
22 | g.37075234C>G | CA411422177 | TMPRSS6 | c.1243G>C (p.Val415Leu) c.1270G>C (p.Val424Leu) c.811G>C (p.Val271Leu) | gnomAD v4 |
22 | g.37075234C>T | CA10215677 | TMPRSS6 | c.1243G>A (p.Val415Met) c.1270G>A (p.Val424Met) c.811G>A (p.Val271Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075235G>A | CA514482611 | TMPRSS6 | c.1242C>T (p.Pro414=) c.1269C>T (p.Pro423=) c.810C>T (p.Pro270=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075235G>C | CA514482610 | TMPRSS6 | c.1242C>G (p.Pro414=) c.1269C>G (p.Pro423=) c.810C>G (p.Pro270=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075235G= | CA2404171298 | TMPRSS6 | c.1242C= (p.Pro414=) c.1269C= (p.Pro423=) c.810C= (p.Pro270=) | |
22 | g.37075235G>T | CA514482609 | TMPRSS6 | c.1242C>A (p.Pro414=) c.1269C>A (p.Pro423=) c.810C>A (p.Pro270=) | |
22 | g.37075236G>A | CA411422179 | TMPRSS6 | c.1241C>T (p.Pro414Leu) c.1268C>T (p.Pro423Leu) c.809C>T (p.Pro270Leu) | |
22 | g.37075236G>C | CA411422181 | TMPRSS6 | c.1241C>G (p.Pro414Arg) c.1268C>G (p.Pro423Arg) c.809C>G (p.Pro270Arg) | |
22 | g.37075236G>T | CA411422182 | TMPRSS6 | c.1241C>A (p.Pro414His) c.1268C>A (p.Pro423His) c.809C>A (p.Pro270His) | |
22 | g.37075237G>A | CA411422184 | TMPRSS6 | c.1240C>T (p.Pro414Ser) c.1267C>T (p.Pro423Ser) c.808C>T (p.Pro270Ser) | |
22 | g.37075237G>C | CA411422186 | TMPRSS6 | c.1240C>G (p.Pro414Ala) c.1267C>G (p.Pro423Ala) c.808C>G (p.Pro270Ala) | |
22 | g.37075237G>T | CA411422188 | TMPRSS6 | c.1240C>A (p.Pro414Thr) c.1267C>A (p.Pro423Thr) c.808C>A (p.Pro270Thr) | |
22 | g.37075238G>A | CA514482612 | TMPRSS6 | c.1239C>T (p.Ile413=) c.1266C>T (p.Ile422=) c.807C>T (p.Ile269=) | |
22 | g.37075238G>C | CA411422191 | TMPRSS6 | c.1239C>G (p.Ile413Met) c.1266C>G (p.Ile422Met) c.807C>G (p.Ile269Met) | |
22 | g.37075238G>T | CA514482613 | TMPRSS6 | c.1239C>A (p.Ile413=) c.1266C>A (p.Ile422=) c.807C>A (p.Ile269=) | gnomAD v4 |
22 | g.37075239A>C | CA411422195 | TMPRSS6 | c.1238T>G (p.Ile413Ser) c.1265T>G (p.Ile422Ser) c.806T>G (p.Ile269Ser) | |
22 | g.37075239A>G | CA411422197 | TMPRSS6 | c.1238T>C (p.Ile413Thr) c.1265T>C (p.Ile422Thr) c.806T>C (p.Ile269Thr) | |
22 | g.37075239A>T | CA411422193 | TMPRSS6 | c.1238T>A (p.Ile413Asn) c.1265T>A (p.Ile422Asn) c.806T>A (p.Ile269Asn) | gnomAD v4 |
22 | g.37075240T>A | CA411422199 | TMPRSS6 | c.1237A>T (p.Ile413Phe) c.1264A>T (p.Ile422Phe) c.805A>T (p.Ile269Phe) | |
22 | g.37075240T>C | CA411422204 | TMPRSS6 | c.1237A>G (p.Ile413Val) c.1264A>G (p.Ile422Val) c.805A>G (p.Ile269Val) | |
22 | g.37075240T>G | CA411422202 | TMPRSS6 | c.1237A>C (p.Ile413Leu) c.1264A>C (p.Ile422Leu) c.805A>C (p.Ile269Leu) | |
22 | g.37075241C>A | CA411422206 | TMPRSS6 | c.1236G>T (p.Arg412Ser) c.1263G>T (p.Arg421Ser) c.804G>T (p.Arg268Ser) | |
22 | g.37075241C>G | CA411422208 | TMPRSS6 | c.1236G>C (p.Arg412Ser) c.1263G>C (p.Arg421Ser) c.804G>C (p.Arg268Ser) | |
22 | g.37075241C>T | CA514482614 | TMPRSS6 | c.1236G>A (p.Arg412=) c.1263G>A (p.Arg421=) c.804G>A (p.Arg268=) | |
22 | g.37075242C>A | CA411422211 | TMPRSS6 | c.1235G>T (p.Arg412Met) c.1262G>T (p.Arg421Met) c.803G>T (p.Arg268Met) | |
22 | g.37075242C>G | CA411422213 | TMPRSS6 | c.1235G>C (p.Arg412Thr) c.1262G>C (p.Arg421Thr) c.803G>C (p.Arg268Thr) | gnomAD v4 |
22 | g.37075242C>T | CA411422214 | TMPRSS6 | c.1235G>A (p.Arg412Lys) c.1262G>A (p.Arg421Lys) c.803G>A (p.Arg268Lys) | gnomAD v4 |
22 | g.37075243T>A | CA411422216 | TMPRSS6 | c.1234A>T (p.Arg412Trp) c.1261A>T (p.Arg421Trp) c.802A>T (p.Arg268Trp) | |
22 | g.37075243T>C | CA411422218 | TMPRSS6 | c.1234A>G (p.Arg412Gly) c.1261A>G (p.Arg421Gly) c.802A>G (p.Arg268Gly) | gnomAD v4 |
22 | g.37075243T>G | CA514482615 | TMPRSS6 | c.1234A>C (p.Arg412=) c.1261A>C (p.Arg421=) c.802A>C (p.Arg268=) | |
22 | g.37075244C>A | CA10215678 | TMPRSS6 | c.1233G>T (p.Glu411Asp) c.1260G>T (p.Glu420Asp) c.801G>T (p.Glu267Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075244C= | CA2404171299 | TMPRSS6 | c.1233G= (p.Glu411=) c.1260G= (p.Glu420=) c.801G= (p.Glu267=) | |
22 | g.37075244C>G | CA411422220 | TMPRSS6 | c.1233G>C (p.Glu411Asp) c.1260G>C (p.Glu420Asp) c.801G>C (p.Glu267Asp) | |
22 | g.37075244C>T | CA514482616 | TMPRSS6 | c.1233G>A (p.Glu411=) c.1260G>A (p.Glu420=) c.801G>A (p.Glu267=) | |
22 | g.37075245T>A | CA411422223 | TMPRSS6 | c.1232A>T (p.Glu411Val) c.1259A>T (p.Glu420Val) c.800A>T (p.Glu267Val) | |
22 | g.37075245T>C | CA411422225 | TMPRSS6 | c.1232A>G (p.Glu411Gly) c.1259A>G (p.Glu420Gly) c.800A>G (p.Glu267Gly) | |
22 | g.37075245T>G | CA411422226 | TMPRSS6 | c.1232A>C (p.Glu411Ala) c.1259A>C (p.Glu420Ala) c.800A>C (p.Glu267Ala) | dbSNP |
22 | g.37075245T= | CA2404171300 | TMPRSS6 | c.1232A= (p.Glu411=) c.1259A= (p.Glu420=) c.800A= (p.Glu267=) | |
22 | g.37075246C>A | CA411422232 | TMPRSS6 | c.1231G>T (p.Glu411Ter) c.1258G>T (p.Glu420Ter) c.799G>T (p.Glu267Ter) | gnomAD v4 |
22 | g.37075246C= | CA2404171301 | TMPRSS6 | c.1231G= (p.Glu411=) c.1258G= (p.Glu420=) c.799G= (p.Glu267=) | |
22 | g.37075246C>G | CA411422230 | TMPRSS6 | c.1231G>C (p.Glu411Gln) c.1258G>C (p.Glu420Gln) c.799G>C (p.Glu267Gln) | gnomAD v4 |
22 | g.37075246C>T | CA10215679 | TMPRSS6 | c.1231G>A (p.Glu411Lys) c.1258G>A (p.Glu420Lys) c.799G>A (p.Glu267Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075247G>A | CA324050310 | TMPRSS6 | c.1230C>T (p.Ala410=) c.1257C>T (p.Ala419=) c.798C>T (p.Ala266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075247G>C | CA514482617 | TMPRSS6 | c.1230C>G (p.Ala410=) c.1257C>G (p.Ala419=) c.798C>G (p.Ala266=) | |
22 | g.37075247G= | CA2404171302 | TMPRSS6 | c.1230C= (p.Ala410=) c.1257C= (p.Ala419=) c.798C= (p.Ala266=) | |
22 | g.37075247G>T | CA514482618 | TMPRSS6 | c.1230C>A (p.Ala410=) c.1257C>A (p.Ala419=) c.798C>A (p.Ala266=) | |
22 | g.37075248G>A | CA411422236 | TMPRSS6 | c.1229C>T (p.Ala410Val) c.1256C>T (p.Ala419Val) c.797C>T (p.Ala266Val) | dbSNP gnomAD v4 |
22 | g.37075248G>C | CA411422238 | TMPRSS6 | c.1229C>G (p.Ala410Gly) c.1256C>G (p.Ala419Gly) c.797C>G (p.Ala266Gly) | |
22 | g.37075248G= | CA2404171303 | TMPRSS6 | c.1229C= (p.Ala410=) c.1256C= (p.Ala419=) c.797C= (p.Ala266=) | |
22 | g.37075248G>T | CA411422239 | TMPRSS6 | c.1229C>A (p.Ala410Asp) c.1256C>A (p.Ala419Asp) c.797C>A (p.Ala266Asp) | |
22 | g.37075249C>A | CA411422241 | TMPRSS6 | c.1228G>T (p.Ala410Ser) c.1255G>T (p.Ala419Ser) c.796G>T (p.Ala266Ser) | |
22 | g.37075249C= | CA2404171304 | TMPRSS6 | c.1228G= (p.Ala410=) c.1255G= (p.Ala419=) c.796G= (p.Ala266=) | |
22 | g.37075249C>G | CA411422243 | TMPRSS6 | c.1228G>C (p.Ala410Pro) c.1255G>C (p.Ala419Pro) c.796G>C (p.Ala266Pro) | |
22 | g.37075249C>T | CA10215680 | TMPRSS6 | c.1228G>A (p.Ala410Thr) c.1255G>A (p.Ala419Thr) c.796G>A (p.Ala266Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075250G>A | CA10215681 | TMPRSS6 | c.1227C>T (p.Tyr409=) c.1254C>T (p.Tyr418=) c.795C>T (p.Tyr265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075250G>C | CA411422247 | TMPRSS6 | c.1227C>G (p.Tyr409Ter) c.1254C>G (p.Tyr418Ter) c.795C>G (p.Tyr265Ter) | |
22 | g.37075250G= | CA2404171305 | TMPRSS6 | c.1227C= (p.Tyr409=) c.1254C= (p.Tyr418=) c.795C= (p.Tyr265=) | |
22 | g.37075250G>T | CA10215682 | TMPRSS6 | c.1227C>A (p.Tyr409Ter) c.1254C>A (p.Tyr418Ter) c.795C>A (p.Tyr265Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075251T>A | CA411422253 | TMPRSS6 | c.1226A>T (p.Tyr409Phe) c.1253A>T (p.Tyr418Phe) c.794A>T (p.Tyr265Phe) | |
22 | g.37075251T>C | CA10215683 | TMPRSS6 | c.1226A>G (p.Tyr409Cys) c.1253A>G (p.Tyr418Cys) c.794A>G (p.Tyr265Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075251T>G | CA411422251 | TMPRSS6 | c.1226A>C (p.Tyr409Ser) c.1253A>C (p.Tyr418Ser) c.794A>C (p.Tyr265Ser) | |
22 | g.37075251T= | CA2404171306 | TMPRSS6 | c.1226A= (p.Tyr409=) c.1253A= (p.Tyr418=) c.794A= (p.Tyr265=) | |
22 | g.37075252A>C | CA411422255 | TMPRSS6 | c.1225T>G (p.Tyr409Asp) c.1252T>G (p.Tyr418Asp) c.793T>G (p.Tyr265Asp) | |
22 | g.37075252A>G | CA411422257 | TMPRSS6 | c.1225T>C (p.Tyr409His) c.1252T>C (p.Tyr418His) c.793T>C (p.Tyr265His) | gnomAD v4 |
22 | g.37075252A>T | CA411422259 | TMPRSS6 | c.1225T>A (p.Tyr409Asn) c.1252T>A (p.Tyr418Asn) c.793T>A (p.Tyr265Asn) | |
22 | g.37075253G>A | CA514482619 | TMPRSS6 | c.1224C>T (p.Pro408=) c.1251C>T (p.Pro417=) c.792C>T (p.Pro264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075253G>C | CA514482620 | TMPRSS6 | c.1224C>G (p.Pro408=) c.1251C>G (p.Pro417=) c.792C>G (p.Pro264=) | |
22 | g.37075253G= | CA2404171307 | TMPRSS6 | c.1224C= (p.Pro408=) c.1251C= (p.Pro417=) c.792C= (p.Pro264=) | |
22 | g.37075253G>T | CA514482621 | TMPRSS6 | c.1224C>A (p.Pro408=) c.1251C>A (p.Pro417=) c.792C>A (p.Pro264=) | |
22 | g.37075254G>A | CA10215684 | TMPRSS6 | c.1223C>T (p.Pro408Leu) c.1250C>T (p.Pro417Leu) c.791C>T (p.Pro264Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075254G>C | CA411422262 | TMPRSS6 | c.1223C>G (p.Pro408Arg) c.1250C>G (p.Pro417Arg) c.791C>G (p.Pro264Arg) | |
22 | g.37075254G= | CA2404171308 | TMPRSS6 | c.1223C= (p.Pro408=) c.1250C= (p.Pro417=) c.791C= (p.Pro264=) | |
22 | g.37075254G>T | CA411422264 | TMPRSS6 | c.1223C>A (p.Pro408His) c.1250C>A (p.Pro417His) c.791C>A (p.Pro264His) | |
22 | g.37075255G>A | CA411422266 | TMPRSS6 | c.1222C>T (p.Pro408Ser) c.1249C>T (p.Pro417Ser) c.790C>T (p.Pro264Ser) | |
22 | g.37075255G>C | CA411422268 | TMPRSS6 | c.1222C>G (p.Pro408Ala) c.1249C>G (p.Pro417Ala) c.790C>G (p.Pro264Ala) | |
22 | g.37075255G>T | CA411422269 | TMPRSS6 | c.1222C>A (p.Pro408Thr) c.1249C>A (p.Pro417Thr) c.790C>A (p.Pro264Thr) | |
22 | g.37075256C>A | CA411422273 | TMPRSS6 | c.1221G>T (p.Gln407His) c.1248G>T (p.Gln416His) c.789G>T (p.Gln263His) | |
22 | g.37075256C>G | CA411422274 | TMPRSS6 | c.1221G>C (p.Gln407His) c.1248G>C (p.Gln416His) c.789G>C (p.Gln263His) | |
22 | g.37075256C>T | CA514482622 | TMPRSS6 | c.1221G>A (p.Gln407=) c.1248G>A (p.Gln416=) c.789G>A (p.Gln263=) | |
22 | g.37075257T>A | CA411422281 | TMPRSS6 | c.1220A>T (p.Gln407Leu) c.1247A>T (p.Gln416Leu) c.788A>T (p.Gln263Leu) | |
22 | g.37075257T>C | CA10215685 | TMPRSS6 | c.1220A>G (p.Gln407Arg) c.1247A>G (p.Gln416Arg) c.788A>G (p.Gln263Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075257T>G | CA411422277 | TMPRSS6 | c.1220A>C (p.Gln407Pro) c.1247A>C (p.Gln416Pro) c.788A>C (p.Gln263Pro) | |
22 | g.37075257T= | CA2404171309 | TMPRSS6 | c.1220A= (p.Gln407=) c.1247A= (p.Gln416=) c.788A= (p.Gln263=) | |
22 | g.37075258G>A | CA10215686 | TMPRSS6 | c.1219C>T (p.Gln407Ter) c.1246C>T (p.Gln416Ter) c.787C>T (p.Gln263Ter) | dbSNP ExAC gnomAD v2 |
22 | g.37075258G>C | CA411422285 | TMPRSS6 | c.1219C>G (p.Gln407Glu) c.1246C>G (p.Gln416Glu) c.787C>G (p.Gln263Glu) | |
22 | g.37075258G= | CA2404171310 | TMPRSS6 | c.1219C= (p.Gln407=) c.1246C= (p.Gln416=) c.787C= (p.Gln263=) | |
22 | g.37075258G>T | CA411422287 | TMPRSS6 | c.1219C>A (p.Gln407Lys) c.1246C>A (p.Gln416Lys) c.787C>A (p.Gln263Lys) | dbSNP gnomAD v2 |
22 | g.37075259C>A | CA514482623 | TMPRSS6 | c.1218G>T (p.Leu406=) c.1245G>T (p.Leu415=) c.786G>T (p.Leu262=) | |
22 | g.37075259C= | CA2404171311 | TMPRSS6 | c.1218G= (p.Leu406=) c.1245G= (p.Leu415=) c.786G= (p.Leu262=) | |
22 | g.37075259C>G | CA514482624 | TMPRSS6 | c.1218G>C (p.Leu406=) c.1245G>C (p.Leu415=) c.786G>C (p.Leu262=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075259C>T | CA10215687 | TMPRSS6 | c.1218G>A (p.Leu406=) c.1245G>A (p.Leu415=) c.786G>A (p.Leu262=) | dbSNP ExAC gnomAD v2 |
22 | g.37075260A= | CA2404171312 | TMPRSS6 | c.1217T= (p.Leu406=) c.1244T= (p.Leu415=) c.785T= (p.Leu262=) | |
22 | g.37075260A>C | CA411422292 | TMPRSS6 | c.1217T>G (p.Leu406Arg) c.1244T>G (p.Leu415Arg) c.785T>G (p.Leu262Arg) | |
22 | g.37075260A>G | CA10215688 | TMPRSS6 | c.1217T>C (p.Leu406Pro) c.1244T>C (p.Leu415Pro) c.785T>C (p.Leu262Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075260A>T | CA411422297 | TMPRSS6 | c.1217T>A (p.Leu406Gln) c.1244T>A (p.Leu415Gln) c.785T>A (p.Leu262Gln) | |
22 | g.37075261G>A | CA514482625 | TMPRSS6 | c.1216C>T (p.Leu406=) c.1243C>T (p.Leu415=) c.784C>T (p.Leu262=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075261G>C | CA411422299 | TMPRSS6 | c.1216C>G (p.Leu406Val) c.1243C>G (p.Leu415Val) c.784C>G (p.Leu262Val) | |
22 | g.37075261G= | CA2404171313 | TMPRSS6 | c.1216C= (p.Leu406=) c.1243C= (p.Leu415=) c.784C= (p.Leu262=) | |
22 | g.37075261G>T | CA411422301 | TMPRSS6 | c.1216C>A (p.Leu406Met) c.1243C>A (p.Leu415Met) c.784C>A (p.Leu262Met) | |
22 | g.37075262G>A | CA514482626 | TMPRSS6 | c.1215C>T (p.Ile405=) c.1242C>T (p.Ile414=) c.783C>T (p.Ile261=) | |
22 | g.37075262G>C | CA411422304 | TMPRSS6 | c.1215C>G (p.Ile405Met) c.1242C>G (p.Ile414Met) c.783C>G (p.Ile261Met) | |
22 | g.37075262G>T | CA514482627 | TMPRSS6 | c.1215C>A (p.Ile405=) c.1242C>A (p.Ile414=) c.783C>A (p.Ile261=) | |
22 | g.37075263A>C | CA411422306 | TMPRSS6 | c.1214T>G (p.Ile405Ser) c.1241T>G (p.Ile414Ser) c.782T>G (p.Ile261Ser) | |
22 | g.37075263A>G | CA411422308 | TMPRSS6 | c.1214T>C (p.Ile405Thr) c.1241T>C (p.Ile414Thr) c.782T>C (p.Ile261Thr) | |
22 | g.37075263A>T | CA411422310 | TMPRSS6 | c.1214T>A (p.Ile405Asn) c.1241T>A (p.Ile414Asn) c.782T>A (p.Ile261Asn) | |
22 | g.37075264T>A | CA411422314 | TMPRSS6 | c.1213A>T (p.Ile405Phe) c.1240A>T (p.Ile414Phe) c.781A>T (p.Ile261Phe) | |
22 | g.37075264T>C | CA411422316 | TMPRSS6 | c.1213A>G (p.Ile405Val) c.1240A>G (p.Ile414Val) c.781A>G (p.Ile261Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075264T>G | CA411422312 | TMPRSS6 | c.1213A>C (p.Ile405Leu) c.1240A>C (p.Ile414Leu) c.781A>C (p.Ile261Leu) | |
22 | g.37075264T= | CA2404171314 | TMPRSS6 | c.1213A= (p.Ile405=) c.1240A= (p.Ile414=) c.781A= (p.Ile261=) | |
22 | g.37075265G>A | CA514482628 | TMPRSS6 | c.1212C>T (p.Arg404=) c.1239C>T (p.Arg413=) c.780C>T (p.Arg260=) | |
22 | g.37075265G>C | CA514482629 | TMPRSS6 | c.1212C>G (p.Arg404=) c.1239C>G (p.Arg413=) c.780C>G (p.Arg260=) | |
22 | g.37075265G>T | CA514482630 | TMPRSS6 | c.1212C>A (p.Arg404=) c.1239C>A (p.Arg413=) c.780C>A (p.Arg260=) | |
22 | g.37075266C>A | CA411422320 | TMPRSS6 | c.1211G>T (p.Arg404Leu) c.1238G>T (p.Arg413Leu) c.779G>T (p.Arg260Leu) | dbSNP gnomAD v4 |
22 | g.37075266C= | CA2404171315 | TMPRSS6 | c.1211G= (p.Arg404=) c.1238G= (p.Arg413=) c.779G= (p.Arg260=) | |
22 | g.37075266C>G | CA411422318 | TMPRSS6 | c.1211G>C (p.Arg404Pro) c.1238G>C (p.Arg413Pro) c.779G>C (p.Arg260Pro) | |
22 | g.37075266C>T | CA10215689 | TMPRSS6 | c.1211G>A (p.Arg404His) c.1238G>A (p.Arg413His) c.779G>A (p.Arg260His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.37075267G>A | CA10215690 | TMPRSS6 | c.1210C>T (p.Arg404Cys) c.1237C>T (p.Arg413Cys) c.778C>T (p.Arg260Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.37075267G>C | CA411422321 | TMPRSS6 | c.1210C>G (p.Arg404Gly) c.1237C>G (p.Arg413Gly) c.778C>G (p.Arg260Gly) | |
22 | g.37075267G= | CA2404171316 | TMPRSS6 | c.1210C= (p.Arg404=) c.1237C= (p.Arg413=) c.778C= (p.Arg260=) | |
22 | g.37075267G>T | CA411422322 | TMPRSS6 | c.1210C>A (p.Arg404Ser) c.1237C>A (p.Arg413Ser) c.778C>A (p.Arg260Ser) | |
22 | g.37075268C>A | CA10215691 | TMPRSS6 | c.1209G>T (p.Leu403Phe) c.1236G>T (p.Leu412Phe) c.777G>T (p.Leu259Phe) | dbSNP ExAC gnomAD v2 |
22 | g.37075268C= | CA2404171317 | TMPRSS6 | c.1209G= (p.Leu403=) c.1236G= (p.Leu412=) c.777G= (p.Leu259=) | |
22 | g.37075268C>G | CA411422324 | TMPRSS6 | c.1209G>C (p.Leu403Phe) c.1236G>C (p.Leu412Phe) c.777G>C (p.Leu259Phe) | |
22 | g.37075268C>T | CA514482631 | TMPRSS6 | c.1209G>A (p.Leu403=) c.1236G>A (p.Leu412=) c.777G>A (p.Leu259=) | |
22 | g.37075269A>C | CA411422325 | TMPRSS6 | c.1208T>G (p.Leu403Trp) c.1235T>G (p.Leu412Trp) c.776T>G (p.Leu259Trp) | |
22 | g.37075269A>G | CA411422327 | TMPRSS6 | c.1208T>C (p.Leu403Ser) c.1235T>C (p.Leu412Ser) c.776T>C (p.Leu259Ser) | gnomAD v4 |
22 | g.37075269A>T | CA411422329 | TMPRSS6 | c.1208T>A (p.Leu403Ter) c.1235T>A (p.Leu412Ter) c.776T>A (p.Leu259Ter) | |
22 | g.37075270A= | CA2404171318 | TMPRSS6 | c.1207T= (p.Leu403=) c.1234T= (p.Leu412=) c.775T= (p.Leu259=) | |
22 | g.37075270A>C | CA411422331 | TMPRSS6 | c.1207T>G (p.Leu403Val) c.1234T>G (p.Leu412Val) c.775T>G (p.Leu259Val) | |
22 | g.37075270A>G | CA10215692 | TMPRSS6 | c.1207T>C (p.Leu403=) c.1234T>C (p.Leu412=) c.775T>C (p.Leu259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075270A>T | CA411422333 | TMPRSS6 | c.1207T>A (p.Leu403Met) c.1234T>A (p.Leu412Met) c.775T>A (p.Leu259Met) | |
22 | g.37075270_37075271del | CA645609239 | TMPRSS6 | c.1206_1207del (p.Leu403AlafsTer?) c.1233_1234del (p.Leu412AlafsTer?) c.774_775del (p.Leu259AlafsTer?) | COSMIC COSMIC |
22 | g.37075271G>A | CA10215693 | TMPRSS6 | c.1206C>T (p.Gly402=) c.1233C>T (p.Gly411=) c.774C>T (p.Gly258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075271G>C | CA514482632 | TMPRSS6 | c.1206C>G (p.Gly402=) c.1233C>G (p.Gly411=) c.774C>G (p.Gly258=) | |
22 | g.37075271G= | CA2404171319 | TMPRSS6 | c.1206C= (p.Gly402=) c.1233C= (p.Gly411=) c.774C= (p.Gly258=) | |
22 | g.37075271G>T | CA514482633 | TMPRSS6 | c.1206C>A (p.Gly402=) c.1233C>A (p.Gly411=) c.774C>A (p.Gly258=) | |
22 | g.37075272C>A | CA411422337 | TMPRSS6 | c.1205G>T (p.Gly402Val) c.1232G>T (p.Gly411Val) c.773G>T (p.Gly258Val) | |
22 | g.37075272C>G | CA411422334 | TMPRSS6 | c.1205G>C (p.Gly402Ala) c.1232G>C (p.Gly411Ala) c.773G>C (p.Gly258Ala) | |
22 | g.37075272C>T | CA411422336 | TMPRSS6 | c.1205G>A (p.Gly402Asp) c.1232G>A (p.Gly411Asp) c.773G>A (p.Gly258Asp) | |
22 | g.37075272_37075274delinsCCA | CA2404171320 | TMPRSS6 | c.1203_1205delinsTGG (p.Cys401=) c.1230_1232delinsTGG (p.Cys410=) c.771_773delinsTGG (p.Cys257=) | |
22 | g.37075273C>A | CA411422339 | TMPRSS6 | c.1204G>T (p.Gly402Cys) c.1231G>T (p.Gly411Cys) c.772G>T (p.Gly258Cys) | |
22 | g.37075273C>G | CA411422341 | TMPRSS6 | c.1204G>C (p.Gly402Arg) c.1231G>C (p.Gly411Arg) c.772G>C (p.Gly258Arg) | |
22 | g.37075273C>T | CA411422343 | TMPRSS6 | c.1204G>A (p.Gly402Ser) c.1231G>A (p.Gly411Ser) c.772G>A (p.Gly258Ser) | |
22 | g.37075277_37075278del | CA639177185 | TMPRSS6 | c.1203_1204del (p.Cys401TrpfsTer?) c.1230_1231del (p.Cys410TrpfsTer?) c.771_772del (p.Cys257TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075274A= | CA2404171321 | TMPRSS6 | c.1203T= (p.Cys401=) c.1230T= (p.Cys410=) c.771T= (p.Cys257=) | |
22 | g.37075274A>C | CA411422345 | TMPRSS6 | c.1203T>G (p.Cys401Trp) c.1230T>G (p.Cys410Trp) c.771T>G (p.Cys257Trp) | |
22 | g.37075274A>G | CA514482634 | TMPRSS6 | c.1203T>C (p.Cys401=) c.1230T>C (p.Cys410=) c.771T>C (p.Cys257=) | dbSNP |
22 | g.37075274A>T | CA411422347 | TMPRSS6 | c.1203T>A (p.Cys401Ter) c.1230T>A (p.Cys410Ter) c.771T>A (p.Cys257Ter) | |
22 | g.37075275C>A | CA411422349 | TMPRSS6 | c.1202G>T (p.Cys401Phe) c.1229G>T (p.Cys410Phe) c.770G>T (p.Cys257Phe) | |
22 | g.37075275C= | CA2404171322 | TMPRSS6 | c.1202G= (p.Cys401=) c.1229G= (p.Cys410=) c.770G= (p.Cys257=) | |
22 | g.37075275C>G | CA411422351 | TMPRSS6 | c.1202G>C (p.Cys401Ser) c.1229G>C (p.Cys410Ser) c.770G>C (p.Cys257Ser) | gnomAD v4 |
22 | g.37075275C>T | CA411422353 | TMPRSS6 | c.1202G>A (p.Cys401Tyr) c.1229G>A (p.Cys410Tyr) c.770G>A (p.Cys257Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075276A= | CA2404171323 | TMPRSS6 | c.1201T= (p.Cys401=) c.1228T= (p.Cys410=) c.769T= (p.Cys257=) | |
22 | g.37075276A>C | CA411422355 | TMPRSS6 | c.1201T>G (p.Cys401Gly) c.1228T>G (p.Cys410Gly) c.769T>G (p.Cys257Gly) | |
22 | g.37075276A>G | CA10215694 | TMPRSS6 | c.1201T>C (p.Cys401Arg) c.1228T>C (p.Cys410Arg) c.769T>C (p.Cys257Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075276A>T | CA411422359 | TMPRSS6 | c.1201T>A (p.Cys401Ser) c.1228T>A (p.Cys410Ser) c.769T>A (p.Cys257Ser) | dbSNP |
22 | g.37075277C>A | CA514482637 | TMPRSS6 | c.1200G>T (p.Leu400=) c.1227G>T (p.Leu409=) c.768G>T (p.Leu256=) | |
22 | g.37075277C= | CA2404171324 | TMPRSS6 | c.1200G= (p.Leu400=) c.1227G= (p.Leu409=) c.768G= (p.Leu256=) | |
22 | g.37075277C>G | CA514482636 | TMPRSS6 | c.1200G>C (p.Leu400=) c.1227G>C (p.Leu409=) c.768G>C (p.Leu256=) | |
22 | g.37075277C>T | CA514482635 | TMPRSS6 | c.1200G>A (p.Leu400=) c.1227G>A (p.Leu409=) c.768G>A (p.Leu256=) | dbSNP |
22 | g.37075278A>C | CA411422363 | TMPRSS6 | c.1199T>G (p.Leu400Arg) c.1226T>G (p.Leu409Arg) c.767T>G (p.Leu256Arg) | |
22 | g.37075278A>G | CA411422365 | TMPRSS6 | c.1199T>C (p.Leu400Pro) c.1226T>C (p.Leu409Pro) c.767T>C (p.Leu256Pro) | |
22 | g.37075278A>T | CA411422361 | TMPRSS6 | c.1199T>A (p.Leu400Gln) c.1226T>A (p.Leu409Gln) c.767T>A (p.Leu256Gln) | |
22 | g.37075279G>A | CA10215695 | TMPRSS6 | c.1198C>T (p.Leu400=) c.1225C>T (p.Leu409=) c.766C>T (p.Leu256=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075279G>C | CA411422367 | TMPRSS6 | c.1198C>G (p.Leu400Val) c.1225C>G (p.Leu409Val) c.766C>G (p.Leu256Val) | |
22 | g.37075279G= | CA2404171325 | TMPRSS6 | c.1198C= (p.Leu400=) c.1225C= (p.Leu409=) c.766C= (p.Leu256=) | |
22 | g.37075279G>T | CA411422369 | TMPRSS6 | c.1198C>A (p.Leu400Met) c.1225C>A (p.Leu409Met) c.766C>A (p.Leu256Met) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37075280C>A | CA411422371 | TMPRSS6 | c.1197G>T (p.Arg399Ser) c.1224G>T (p.Arg408Ser) c.765G>T (p.Arg255Ser) | |
22 | g.37075280C= | CA2404171326 | TMPRSS6 | c.1197G= (p.Arg399=) c.1224G= (p.Arg408=) c.765G= (p.Arg255=) | |
22 | g.37075280C>G | CA411422373 | TMPRSS6 | c.1197G>C (p.Arg399Ser) c.1224G>C (p.Arg408Ser) c.765G>C (p.Arg255Ser) | ClinVar dbSNP |
22 | g.37075280C>T | CA10215696 | TMPRSS6 | c.1197G>A (p.Arg399=) c.1224G>A (p.Arg408=) c.765G>A (p.Arg255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075281C>A | CA411422377 | TMPRSS6 | c.1197-1G>T (n.1197-1G>T) c.1224-1G>T (n.1224-1G>T) c.765-1G>T (n.765-1G>T) | |
22 | g.37075281C>G | CA411422379 | TMPRSS6 | c.1197-1G>C (n.1197-1G>C) c.1224-1G>C (n.1224-1G>C) c.765-1G>C (n.765-1G>C) | |
22 | g.37075281C>T | CA411422380 | TMPRSS6 | c.1197-1G>A (n.1197-1G>A) c.1224-1G>A (n.1224-1G>A) c.765-1G>A (n.765-1G>A) | |
22 | g.37075282T>A | CA411422383 | TMPRSS6 | c.1197-2A>T (n.1197-2A>T) c.1224-2A>T (n.1224-2A>T) c.765-2A>T (n.765-2A>T) | |
22 | g.37075282T>C | CA411422384 | TMPRSS6 | c.1197-2A>G (n.1197-2A>G) c.1224-2A>G (n.1224-2A>G) c.765-2A>G (n.765-2A>G) | |
22 | g.37075282T>G | CA411422385 | TMPRSS6 | c.1197-2A>C (n.1197-2A>C) c.1224-2A>C (n.1224-2A>C) c.765-2A>C (n.765-2A>C) | |
22 | g.37075282_37075283delinsTG | CA2404171327 | TMPRSS6 | c.1197-3_1197-2delinsCA (n.1197-3_1197-2delinsCA) c.1224-3_1224-2delinsCA (n.1224-3_1224-2delinsCA) c.765-3_765-2delinsCA (n.765-3_765-2delinsCA) | |
22 | g.37075283G>A | CA639177188 | TMPRSS6 | c.1197-3C>T (n.1197-3C>T) c.1224-3C>T (n.1224-3C>T) c.765-3C>T (n.765-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075283G>C | CA639177187 | TMPRSS6 | c.1197-3C>G (n.1197-3C>G) c.1224-3C>G (n.1224-3C>G) c.765-3C>G (n.765-3C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075283G= | CA2404171328 | TMPRSS6 | c.1197-3C= (n.1197-3C=) c.1224-3C= (n.1224-3C=) c.765-3C= (n.765-3C=) | |
22 | g.37075283G>T | CA2656484967 | TMPRSS6 | c.1197-3C>A (n.1197-3C>A) c.1224-3C>A (n.1224-3C>A) c.765-3C>A (n.765-3C>A) | gnomAD v4 |
22 | g.37075288dup | CA752943289 | TMPRSS6 | c.1197-3dup (n.1197-3dup) c.1224-3dup (n.1224-3dup) c.765-3dup (n.765-3dup) | ClinVar dbSNP gnomAD v4 |
22 | g.37075288del | CA639177186 | TMPRSS6 | c.1197-3del (n.1197-3del) c.1224-3del (n.1224-3del) c.765-3del (n.765-3del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075284G>A | CA2656484977 | TMPRSS6 | c.1197-4C>T (n.1197-4C>T) c.1224-4C>T (n.1224-4C>T) c.765-4C>T (n.765-4C>T) | gnomAD v4 |
22 | g.37075284G>C | CA10215698 | TMPRSS6 | c.1197-4C>G (n.1197-4C>G) c.1224-4C>G (n.1224-4C>G) c.765-4C>G (n.765-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37075284G= | CA2404171329 | TMPRSS6 | c.1197-4C= (n.1197-4C=) c.1224-4C= (n.1224-4C=) c.765-4C= (n.765-4C=) | |
22 | g.37075284G>T | CA10215697 | TMPRSS6 | c.1197-4C>A (n.1197-4C>A) c.1224-4C>A (n.1224-4C>A) c.765-4C>A (n.765-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075285G>C | CA2404171331 | TMPRSS6 | c.1197-5C>G (n.1197-5C>G) c.1224-5C>G (n.1224-5C>G) c.765-5C>G (n.765-5C>G) | dbSNP |
22 | g.37075285G= | CA2404171330 | TMPRSS6 | c.1197-5C= (n.1197-5C=) c.1224-5C= (n.1224-5C=) c.765-5C= (n.765-5C=) | |
22 | g.37075286G>A | CA639177189 | TMPRSS6 | c.1197-6C>T (n.1197-6C>T) c.1224-6C>T (n.1224-6C>T) c.765-6C>T (n.765-6C>T) | dbSNP gnomAD v2 |
22 | g.37075286G= | CA2404171332 | TMPRSS6 | c.1197-6C= (n.1197-6C=) c.1224-6C= (n.1224-6C=) c.765-6C= (n.765-6C=) | |
22 | g.37075287G>T | CA2656484983 | TMPRSS6 | c.1197-7C>A (n.1197-7C>A) c.1224-7C>A (n.1224-7C>A) c.765-7C>A (n.765-7C>A) | gnomAD v4 |
22 | g.37075288G>A | CA639177190 | TMPRSS6 | c.1197-8C>T (n.1197-8C>T) c.1224-8C>T (n.1224-8C>T) c.765-8C>T (n.765-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075288G= | CA2404171333 | TMPRSS6 | c.1197-8C= (n.1197-8C=) c.1224-8C= (n.1224-8C=) c.765-8C= (n.765-8C=) | |
22 | g.37075288G>T | CA639177191 | TMPRSS6 | c.1197-8C>A (n.1197-8C>A) c.1224-8C>A (n.1224-8C>A) c.765-8C>A (n.765-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37075288_37075289delinsGA | CA2404171334 | TMPRSS6 | c.1197-9_1197-8delinsTC (n.1197-9_1197-8delinsTC) c.1224-9_1224-8delinsTC (n.1224-9_1224-8delinsTC) c.765-9_765-8delinsTC (n.765-9_765-8delinsTC) | |
22 | g.37075289del | CA752943292 | TMPRSS6 | c.1197-9del (n.1197-9del) c.1224-9del (n.1224-9del) c.765-9del (n.765-9del) | dbSNP |
22 | g.37075289A>T | CA2656484988 | TMPRSS6 | c.1197-9T>A (n.1197-9T>A) c.1224-9T>A (n.1224-9T>A) c.765-9T>A (n.765-9T>A) | gnomAD v4 |
22 | g.37075290G>A | CA10215699 | TMPRSS6 | c.1197-10C>T (n.1197-10C>T) c.1224-10C>T (n.1224-10C>T) c.765-10C>T (n.765-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37075290G= | CA2404171335 | TMPRSS6 | c.1197-10C= (n.1197-10C=) c.1224-10C= (n.1224-10C=) c.765-10C= (n.765-10C=) | |
22 | g.37075291T>G | CA639177192 | TMPRSS6 | c.1197-11A>C (n.1197-11A>C) c.1224-11A>C (n.1224-11A>C) c.765-11A>C (n.765-11A>C) | dbSNP gnomAD v2 |
22 | g.37075291T= | CA2404171336 | TMPRSS6 | c.1197-11A= (n.1197-11A=) c.1224-11A= (n.1224-11A=) c.765-11A= (n.765-11A=) |