UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.45108866_45108887delinsAGCTGGGCAGCCCCATATCTCG | CA2173935189 | DUOX2 | c.1300_1321delinsCGAGATATGGGGCTGCCCAGCT (p.Arg434=) n.2465_2486delinsCGAGATATGGGGCTGCCCAGCT | |
| 15 | g.45108869_45108889del | CA713143981 | DUOX2 | c.1300_1320del (p.Arg434_Ser440del) n.2465_2485del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108887G>A | CA116636 | DUOX2 | c.1300C>T (p.Arg434Ter) n.2465C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108887G>C | CA392276926 | DUOX2 | c.1300C>G (p.Arg434Gly) n.2465C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108887G= | CA2173935245 | DUOX2 | c.1300C= (p.Arg434=) n.2465C= | |
| 15 | g.45108887G>T | CA490223143 | DUOX2 | c.1300C>A (p.Arg434=) n.2465C>A | |
| 15 | g.45108888G>A | CA490223146 | DUOX2 | c.1299C>T (p.Gly433=) n.2464C>T | COSMIC |
| 15 | g.45108888G>C | CA490223152 | DUOX2 | c.1299C>G (p.Gly433=) n.2464C>G | |
| 15 | g.45108888G= | CA2173935247 | DUOX2 | c.1299C= (p.Gly433=) n.2464C= | |
| 15 | g.45108888G>T | CA490223150 | DUOX2 | c.1299C>A (p.Gly433=) n.2464C>A | dbSNP |
| 15 | g.45108889C>A | CA392276929 | DUOX2 | c.1298G>T (p.Gly433Val) n.2463G>T | COSMIC |
| 15 | g.45108889C>G | CA392276928 | DUOX2 | c.1298G>C (p.Gly433Ala) n.2463G>C | |
| 15 | g.45108889C>T | CA392276927 | DUOX2 | c.1298G>A (p.Gly433Asp) n.2463G>A | |
| 15 | g.45108890C>A | CA392276930 | DUOX2 | c.1297G>T (p.Gly433Cys) n.2462G>T | |
| 15 | g.45108890C= | CA2173935250 | DUOX2 | c.1297G= (p.Gly433=) n.2462G= | |
| 15 | g.45108890C>G | CA392276931 | DUOX2 | c.1297G>C (p.Gly433Arg) n.2462G>C | dbSNP |
| 15 | g.45108890C>T | CA392276932 | DUOX2 | c.1297G>A (p.Gly433Ser) n.2462G>A | |
| 15 | g.45108891A= | CA2173935252 | DUOX2 | c.1296T= (p.Arg432=) n.2461T= | |
| 15 | g.45108891A>C | CA490223167 | DUOX2 | c.1296T>G (p.Arg432=) n.2461T>G | dbSNP |
| 15 | g.45108891A>G | CA490223170 | DUOX2 | c.1296T>C (p.Arg432=) n.2461T>C | gnomAD v4 |
| 15 | g.45108891A>T | CA490223176 | DUOX2 | c.1296T>A (p.Arg432=) n.2461T>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108892C>A | CA392276933 | DUOX2 | c.1295G>T (p.Arg432Leu) n.2460G>T | |
| 15 | g.45108892C= | CA2173935256 | DUOX2 | c.1295G= (p.Arg432=) n.2460G= | |
| 15 | g.45108892C>G | CA392276934 | DUOX2 | c.1295G>C (p.Arg432Pro) n.2460G>C | |
| 15 | g.45108892C>T | CA7538665 | DUOX2 | c.1295G>A (p.Arg432His) n.2460G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108893G>A | CA270132028 | DUOX2 | c.1294C>T (p.Arg432Cys) n.2459C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108893G>C | CA392276935 | DUOX2 | c.1294C>G (p.Arg432Gly) n.2459C>G | |
| 15 | g.45108893G= | CA2173935259 | DUOX2 | c.1294C= (p.Arg432=) n.2459C= | |
| 15 | g.45108893G>T | CA392276936 | DUOX2 | c.1294C>A (p.Arg432Ser) n.2459C>A | |
| 15 | g.45108894T>A | CA392276937 | DUOX2 | c.1293A>T (p.Gln431His) n.2458A>T | |
| 15 | g.45108894T>C | CA490223192 | DUOX2 | c.1293A>G (p.Gln431=) n.2458A>G | ClinVar |
| 15 | g.45108894T>G | CA392276938 | DUOX2 | c.1293A>C (p.Gln431His) n.2458A>C | |
| 15 | g.45108895T>A | CA392276939 | DUOX2 | c.1292A>T (p.Gln431Leu) n.2457A>T | |
| 15 | g.45108895T>C | CA392276940 | DUOX2 | c.1292A>G (p.Gln431Arg) n.2457A>G | |
| 15 | g.45108895T>G | CA392276941 | DUOX2 | c.1292A>C (p.Gln431Pro) n.2457A>C | |
| 15 | g.45108896G>A | CA392276944 | DUOX2 | c.1291C>T (p.Gln431Ter) n.2456C>T | |
| 15 | g.45108896G>C | CA392276942 | DUOX2 | c.1291C>G (p.Gln431Glu) n.2456C>G | |
| 15 | g.45108896G>T | CA392276943 | DUOX2 | c.1291C>A (p.Gln431Lys) n.2456C>A | |
| 15 | g.45108897G>A | CA490223223 | DUOX2 | c.1290C>T (p.Ile430=) n.2455C>T | |
| 15 | g.45108897G>C | CA392276945 | DUOX2 | c.1290C>G (p.Ile430Met) n.2455C>G | |
| 15 | g.45108897G>T | CA490223228 | DUOX2 | c.1290C>A (p.Ile430=) n.2455C>A | |
| 15 | g.45108898A>C | CA392276946 | DUOX2 | c.1289T>G (p.Ile430Ser) n.2454T>G | |
| 15 | g.45108898A>G | CA392276947 | DUOX2 | c.1289T>C (p.Ile430Thr) n.2454T>C | |
| 15 | g.45108898A>T | CA392276948 | DUOX2 | c.1289T>A (p.Ile430Asn) n.2454T>A | |
| 15 | g.45108899T>A | CA392276949 | DUOX2 | c.1288A>T (p.Ile430Phe) n.2453A>T | |
| 15 | g.45108899T>C | CA392276950 | DUOX2 | c.1288A>G (p.Ile430Val) n.2453A>G | |
| 15 | g.45108899T>G | CA392276951 | DUOX2 | c.1288A>C (p.Ile430Leu) n.2453A>C | |
| 15 | g.45108900G>A | CA490223242 | DUOX2 | c.1287C>T (p.Ser429=) n.2452C>T | dbSNP |
| 15 | g.45108900G>C | CA392276952 | DUOX2 | c.1287C>G (p.Ser429Arg) n.2452C>G | |
| 15 | g.45108900G= | CA2173935262 | DUOX2 | c.1287C= (p.Ser429=) n.2452C= | |
| 15 | g.45108900G>T | CA392276953 | DUOX2 | c.1287C>A (p.Ser429Arg) n.2452C>A | |
| 15 | g.45108901C>A | CA392276954 | DUOX2 | c.1286G>T (p.Ser429Ile) n.2451G>T | |
| 15 | g.45108901C>G | CA392276955 | DUOX2 | c.1286G>C (p.Ser429Thr) n.2451G>C | ClinVar |
| 15 | g.45108901C>T | CA392276956 | DUOX2 | c.1286G>A (p.Ser429Asn) n.2451G>A | |
| 15 | g.45108902T>A | CA392276957 | DUOX2 | c.1285A>T (p.Ser429Cys) n.2450A>T | |
| 15 | g.45108902T>C | CA392276959 | DUOX2 | c.1285A>G (p.Ser429Gly) n.2450A>G | |
| 15 | g.45108902T>G | CA392276958 | DUOX2 | c.1285A>C (p.Ser429Arg) n.2450A>C | |
| 15 | g.45108903G>A | CA490223260 | DUOX2 | c.1284C>T (p.Ser428=) n.2449C>T | ClinVar |
| 15 | g.45108903G>C | CA392276960 | DUOX2 | c.1284C>G (p.Ser428Arg) n.2449C>G | |
| 15 | g.45108903G>T | CA392276961 | DUOX2 | c.1284C>A (p.Ser428Arg) n.2449C>A | |
| 15 | g.45108904C>A | CA392276962 | DUOX2 | c.1283G>T (p.Ser428Ile) n.2448G>T | |
| 15 | g.45108904C>G | CA392276964 | DUOX2 | c.1283G>C (p.Ser428Thr) n.2448G>C | |
| 15 | g.45108904C>T | CA392276963 | DUOX2 | c.1283G>A (p.Ser428Asn) n.2448G>A | |
| 15 | g.45108905T>A | CA392276965 | DUOX2 | c.1282A>T (p.Ser428Cys) n.2447A>T | |
| 15 | g.45108905T>C | CA270132032 | DUOX2 | c.1282A>G (p.Ser428Gly) n.2447A>G | dbSNP |
| 15 | g.45108905T>G | CA392276966 | DUOX2 | c.1282A>C (p.Ser428Arg) n.2447A>C | |
| 15 | g.45108905T= | CA2173935263 | DUOX2 | c.1282A= (p.Ser428=) n.2447A= | |
| 15 | g.45108906G>A | CA490223275 | DUOX2 | c.1281C>T (p.Ala427=) n.2446C>T | ClinVar gnomAD v4 |
| 15 | g.45108906G>C | CA490223279 | DUOX2 | c.1281C>G (p.Ala427=) n.2446C>G | |
| 15 | g.45108906G>T | CA490223286 | DUOX2 | c.1281C>A (p.Ala427=) n.2446C>A | |
| 15 | g.45108907G>A | CA392276967 | DUOX2 | c.1280C>T (p.Ala427Val) n.2445C>T | |
| 15 | g.45108907G>C | CA392276968 | DUOX2 | c.1280C>G (p.Ala427Gly) n.2445C>G | |
| 15 | g.45108907G>T | CA392276969 | DUOX2 | c.1280C>A (p.Ala427Asp) n.2445C>A | |
| 15 | g.45108908C>A | CA392276970 | DUOX2 | c.1279G>T (p.Ala427Ser) n.2444G>T | |
| 15 | g.45108908C= | CA2173935268 | DUOX2 | c.1279G= (p.Ala427=) n.2444G= | |
| 15 | g.45108908C>G | CA270132036 | DUOX2 | c.1279G>C (p.Ala427Pro) n.2444G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108908C>T | CA392276971 | DUOX2 | c.1279G>A (p.Ala427Thr) n.2444G>A | |
| 15 | g.45108909C>A | CA490223300 | DUOX2 | c.1278G>T (p.Val426=) n.2443G>T | |
| 15 | g.45108909C>G | CA490223298 | DUOX2 | c.1278G>C (p.Val426=) n.2443G>C | |
| 15 | g.45108909C>T | CA490223295 | DUOX2 | c.1278G>A (p.Val426=) n.2443G>A | gnomAD v4 |
| 15 | g.45108910A= | CA2173935270 | DUOX2 | c.1277T= (p.Val426=) n.2442T= | |
| 15 | g.45108910A>C | CA392276972 | DUOX2 | c.1277T>G (p.Val426Gly) n.2442T>G | |
| 15 | g.45108910A>G | CA392276973 | DUOX2 | c.1277T>C (p.Val426Ala) n.2442T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108910A>T | CA392276974 | DUOX2 | c.1277T>A (p.Val426Glu) n.2442T>A | |
| 15 | g.45108911del | CA2695220475 | DUOX2 | c.1276del (p.Val426TrpfsTer?) n.2441del | |
| 15 | g.45108911C>A | CA392276975 | DUOX2 | c.1276G>T (p.Val426Leu) n.2441G>T | |
| 15 | g.45108911C>G | CA392276977 | DUOX2 | c.1276G>C (p.Val426Leu) n.2441G>C | |
| 15 | g.45108911C>T | CA392276976 | DUOX2 | c.1276G>A (p.Val426Met) n.2441G>A | gnomAD v4 |
| 15 | g.45108912A= | CA2173935272 | DUOX2 | c.1275T= (p.Tyr425=) n.2440T= | |
| 15 | g.45108912A>C | CA7538666 | DUOX2 | c.1275T>G (p.Tyr425Ter) n.2440T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108912A>G | CA490223312 | DUOX2 | c.1275T>C (p.Tyr425=) n.2440T>C | dbSNP gnomAD v4 |
| 15 | g.45108912A>T | CA392276978 | DUOX2 | c.1275T>A (p.Tyr425Ter) n.2440T>A | |
| 15 | g.45108913T>A | CA392276979 | DUOX2 | c.1274A>T (p.Tyr425Phe) n.2439A>T | |
| 15 | g.45108913T>C | CA392276980 | DUOX2 | c.1274A>G (p.Tyr425Cys) n.2439A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108913T>G | CA392276981 | DUOX2 | c.1274A>C (p.Tyr425Ser) n.2439A>C | |
| 15 | g.45108913T= | CA2173935275 | DUOX2 | c.1274A= (p.Tyr425=) n.2439A= | |
| 15 | g.45108914A>C | CA392276982 | DUOX2 | c.1273T>G (p.Tyr425Asp) n.2438T>G | |
| 15 | g.45108914A>G | CA392276983 | DUOX2 | c.1273T>C (p.Tyr425His) n.2438T>C | |
| 15 | g.45108914A>T | CA392276984 | DUOX2 | c.1273T>A (p.Tyr425Asn) n.2438T>A | |
| 15 | g.45108915G>A | CA490223330 | DUOX2 | c.1272C>T (p.Asp424=) n.2437C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.45108915G>C | CA392276985 | DUOX2 | c.1272C>G (p.Asp424Glu) n.2437C>G | |
| 15 | g.45108915G= | CA2173935277 | DUOX2 | c.1272C= (p.Asp424=) n.2437C= | |
| 15 | g.45108915G>T | CA392276986 | DUOX2 | c.1272C>A (p.Asp424Glu) n.2437C>A | |
| 15 | g.45108916T>A | CA392276988 | DUOX2 | c.1271A>T (p.Asp424Val) n.2436A>T | |
| 15 | g.45108916T>C | CA270132054 | DUOX2 | c.1271A>G (p.Asp424Gly) n.2436A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108916T>G | CA392276987 | DUOX2 | c.1271A>C (p.Asp424Ala) n.2436A>C | |
| 15 | g.45108916T= | CA2173935280 | DUOX2 | c.1271A= (p.Asp424=) n.2436A= | |
| 15 | g.45108917C>A | CA392276989 | DUOX2 | c.1270G>T (p.Asp424Tyr) n.2435G>T | |
| 15 | g.45108917C= | CA2173935283 | DUOX2 | c.1270G= (p.Asp424=) n.2435G= | |
| 15 | g.45108917C>G | CA392276990 | DUOX2 | c.1270G>C (p.Asp424His) n.2435G>C | |
| 15 | g.45108917C>T | CA392276991 | DUOX2 | c.1270G>A (p.Asp424Asn) n.2435G>A | dbSNP gnomAD v4 |
| 15 | g.45108918T>A | CA490223352 | DUOX2 | c.1269A>T (p.Thr423=) n.2434A>T | |
| 15 | g.45108918T>C | CA490223354 | DUOX2 | c.1269A>G (p.Thr423=) n.2434A>G | |
| 15 | g.45108918T>G | CA490223357 | DUOX2 | c.1269A>C (p.Thr423=) n.2434A>C | |
| 15 | g.45108919G>A | CA7538667 | DUOX2 | c.1268C>T (p.Thr423Ile) n.2433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108919G>C | CA392276992 | DUOX2 | c.1268C>G (p.Thr423Arg) n.2433C>G | |
| 15 | g.45108919G= | CA2173935286 | DUOX2 | c.1268C= (p.Thr423=) n.2433C= | |
| 15 | g.45108919G>T | CA392276993 | DUOX2 | c.1268C>A (p.Thr423Lys) n.2433C>A | |
| 15 | g.45108920T>A | CA392276994 | DUOX2 | c.1267A>T (p.Thr423Ser) n.2432A>T | |
| 15 | g.45108920T>C | CA270132056 | DUOX2 | c.1267A>G (p.Thr423Ala) n.2432A>G | dbSNP gnomAD v4 |
| 15 | g.45108920T>G | CA392276995 | DUOX2 | c.1267A>C (p.Thr423Pro) n.2432A>C | |
| 15 | g.45108920T= | CA2173935289 | DUOX2 | c.1267A= (p.Thr423=) n.2432A= | |
| 15 | g.45108921A>C | CA490223372 | DUOX2 | c.1266T>G (p.Arg422=) n.2431T>G | |
| 15 | g.45108921A>G | CA490223385 | DUOX2 | c.1266T>C (p.Arg422=) n.2431T>C | |
| 15 | g.45108921A>T | CA490223387 | DUOX2 | c.1266T>A (p.Arg422=) n.2431T>A | |
| 15 | g.45108922C>A | CA392276996 | DUOX2 | c.1265G>T (p.Arg422Leu) n.2430G>T | gnomAD v4 |
| 15 | g.45108922C= | CA2173935291 | DUOX2 | c.1265G= (p.Arg422=) n.2430G= | |
| 15 | g.45108922C>G | CA392276997 | DUOX2 | c.1265G>C (p.Arg422Pro) n.2430G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.45108922C>T | CA7538668 | DUOX2 | c.1265G>A (p.Arg422His) n.2430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108923G>A | CA7538669 | DUOX2 | c.1264C>T (p.Arg422Cys) n.2429C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108923G>C | CA392276999 | DUOX2 | c.1264C>G (p.Arg422Gly) n.2429C>G | ClinVar |
| 15 | g.45108923G= | CA2173935294 | DUOX2 | c.1264C= (p.Arg422=) n.2429C= | |
| 15 | g.45108923G>T | CA392276998 | DUOX2 | c.1264C>A (p.Arg422Ser) n.2429C>A | gnomAD v4 |
| 15 | g.45108924G>A | CA490223402 | DUOX2 | c.1263C>T (p.Ser421=) n.2428C>T | COSMIC |
| 15 | g.45108924G>C | CA490223404 | DUOX2 | c.1263C>G (p.Ser421=) n.2428C>G | gnomAD v4 |
| 15 | g.45108924G>T | CA490223407 | DUOX2 | c.1263C>A (p.Ser421=) n.2428C>A | |
| 15 | g.45108925G>A | CA392277000 | DUOX2 | c.1262C>T (p.Ser421Phe) n.2427C>T | |
| 15 | g.45108925G>C | CA392277001 | DUOX2 | c.1262C>G (p.Ser421Cys) n.2427C>G | |
| 15 | g.45108925G>T | CA392277002 | DUOX2 | c.1262C>A (p.Ser421Tyr) n.2427C>A | |
| 15 | g.45108926A>C | CA392277003 | DUOX2 | c.1261T>G (p.Ser421Ala) n.2426T>G | |
| 15 | g.45108926A>G | CA392277004 | DUOX2 | c.1261T>C (p.Ser421Pro) n.2426T>C | |
| 15 | g.45108926A>T | CA392277005 | DUOX2 | c.1261T>A (p.Ser421Thr) n.2426T>A | |
| 15 | g.45108927G>A | CA490223423 | DUOX2 | c.1260C>T (p.Phe420=) n.2425C>T | |
| 15 | g.45108927G>C | CA392277006 | DUOX2 | c.1260C>G (p.Phe420Leu) n.2425C>G | |
| 15 | g.45108927G>T | CA392277007 | DUOX2 | c.1260C>A (p.Phe420Leu) n.2425C>A | |
| 15 | g.45108928A>C | CA392277008 | DUOX2 | c.1259T>G (p.Phe420Cys) n.2424T>G | |
| 15 | g.45108928A>G | CA392277009 | DUOX2 | c.1259T>C (p.Phe420Ser) n.2424T>C | |
| 15 | g.45108928A>T | CA392277010 | DUOX2 | c.1259T>A (p.Phe420Tyr) n.2424T>A | |
| 15 | g.45108929A= | CA2173935295 | DUOX2 | c.1258T= (p.Phe420=) n.2423T= | |
| 15 | g.45108929A>C | CA392277011 | DUOX2 | c.1258T>G (p.Phe420Val) n.2423T>G | gnomAD v4 |
| 15 | g.45108929A>G | CA7538670 | DUOX2 | c.1258T>C (p.Phe420Leu) n.2423T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.45108929A>T | CA392277012 | DUOX2 | c.1258T>A (p.Phe420Ile) n.2423T>A | |
| 15 | g.45108930T>A | CA392277013 | DUOX2 | c.1257A>T (p.Lys419Asn) n.2422A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108930T>C | CA490223450 | DUOX2 | c.1257A>G (p.Lys419=) n.2422A>G | |
| 15 | g.45108930T>G | CA392277014 | DUOX2 | c.1257A>C (p.Lys419Asn) n.2422A>C | |
| 15 | g.45108930T= | CA2173935298 | DUOX2 | c.1257A= (p.Lys419=) n.2422A= | |
| 15 | g.45108931T>A | CA392277015 | DUOX2 | c.1256A>T (p.Lys419Ile) n.2421A>T | dbSNP |
| 15 | g.45108931T>C | CA392277016 | DUOX2 | c.1256A>G (p.Lys419Arg) n.2421A>G | |
| 15 | g.45108931T>G | CA392277017 | DUOX2 | c.1256A>C (p.Lys419Thr) n.2421A>C | |
| 15 | g.45108931T= | CA2173935299 | DUOX2 | c.1256A= (p.Lys419=) n.2421A= | |
| 15 | g.45108932T>A | CA392277018 | DUOX2 | c.1255A>T (p.Lys419Ter) n.2420A>T | |
| 15 | g.45108932T>C | CA392277019 | DUOX2 | c.1255A>G (p.Lys419Glu) n.2420A>G | gnomAD v4 |
| 15 | g.45108932T>G | CA392277020 | DUOX2 | c.1255A>C (p.Lys419Gln) n.2420A>C | |
| 15 | g.45108933G>A | CA490223460 | DUOX2 | c.1254C>T (p.Gly418=) n.2419C>T | gnomAD v4 |
| 15 | g.45108933G>C | CA490223463 | DUOX2 | c.1254C>G (p.Gly418=) n.2419C>G | |
| 15 | g.45108933G>T | CA490223464 | DUOX2 | c.1254C>A (p.Gly418=) n.2419C>A | gnomAD v4 |
| 15 | g.45108934C>A | CA392277021 | DUOX2 | c.1253G>T (p.Gly418Val) n.2418G>T | |
| 15 | g.45108934C= | CA2173935300 | DUOX2 | c.1253G= (p.Gly418=) n.2418G= | |
| 15 | g.45108934C>G | CA392277022 | DUOX2 | c.1253G>C (p.Gly418Ala) n.2418G>C | |
| 15 | g.45108934C>T | CA392277023 | DUOX2 | c.1253G>A (p.Gly418Asp) n.2418G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.45108935del | CA2695220476 | DUOX2 | c.1253del (p.Gly418AlafsTer?) n.2418del | |
| 15 | g.45108935C>A | CA392277024 | DUOX2 | c.1252G>T (p.Gly418Cys) n.2417G>T | |
| 15 | g.45108935C= | CA2173935302 | DUOX2 | c.1252G= (p.Gly418=) n.2417G= | |
| 15 | g.45108935C>G | CA392277025 | DUOX2 | c.1252G>C (p.Gly418Arg) n.2417G>C | gnomAD v4 |
| 15 | g.45108935C>T | CA392277026 | DUOX2 | c.1252G>A (p.Gly418Ser) n.2417G>A | dbSNP |
| 15 | g.45108936A= | CA2173935305 | DUOX2 | c.1251T= (p.Pro417=) n.2416T= | |
| 15 | g.45108936A>C | CA490223483 | DUOX2 | c.1251T>G (p.Pro417=) n.2416T>G | |
| 15 | g.45108936A>G | CA7538671 | DUOX2 | c.1251T>C (p.Pro417=) n.2416T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108936A>T | CA490223487 | DUOX2 | c.1251T>A (p.Pro417=) n.2416T>A | |
| 15 | g.45108937G>A | CA392277029 | DUOX2 | c.1250C>T (p.Pro417Leu) n.2415C>T | |
| 15 | g.45108937G>C | CA392277028 | DUOX2 | c.1250C>G (p.Pro417Arg) n.2415C>G | |
| 15 | g.45108937G>T | CA392277027 | DUOX2 | c.1250C>A (p.Pro417His) n.2415C>A | |
| 15 | g.45108938G>A | CA392277030 | DUOX2 | c.1249C>T (p.Pro417Ser) n.2414C>T | |
| 15 | g.45108938G>C | CA392277031 | DUOX2 | c.1249C>G (p.Pro417Ala) n.2414C>G | |
| 15 | g.45108938G>T | CA392277032 | DUOX2 | c.1249C>A (p.Pro417Thr) n.2414C>A | |
| 15 | g.45108939G>A | CA490223506 | DUOX2 | c.1248C>T (p.Gly416=) n.2413C>T | |
| 15 | g.45108939G>C | CA490223508 | DUOX2 | c.1248C>G (p.Gly416=) n.2413C>G | |
| 15 | g.45108939G>T | CA490223520 | DUOX2 | c.1248C>A (p.Gly416=) n.2413C>A | |
| 15 | g.45108939_45108940delinsGC | CA2173935306 | DUOX2 | c.1247_1248delinsGC (p.Gly416=) n.2412_2413delinsGC | |
| 15 | g.45108940C>A | CA392277033 | DUOX2 | c.1247G>T (p.Gly416Val) n.2412G>T | |
| 15 | g.45108940C= | CA2173935307 | DUOX2 | c.1247G= (p.Gly416=) n.2412G= | |
| 15 | g.45108940C>G | CA392277034 | DUOX2 | c.1247G>C (p.Gly416Ala) n.2412G>C | |
| 15 | g.45108940C>T | CA392277035 | DUOX2 | c.1247G>A (p.Gly416Asp) n.2412G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108941del | CA7538672 | DUOX2 | c.1247del (p.Gly416AlafsTer?) n.2412del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108941C>A | CA392277036 | DUOX2 | c.1246G>T (p.Gly416Cys) n.2411G>T | |
| 15 | g.45108941C>G | CA392277037 | DUOX2 | c.1246G>C (p.Gly416Arg) n.2411G>C | |
| 15 | g.45108941C>T | CA392277038 | DUOX2 | c.1246G>A (p.Gly416Ser) n.2411G>A | |
| 15 | g.45108942A= | CA2173935309 | DUOX2 | c.1245T= (p.Pro415=) n.2410T= | |
| 15 | g.45108942A>C | CA490223539 | DUOX2 | c.1245T>G (p.Pro415=) n.2410T>G | |
| 15 | g.45108942A>G | CA490223550 | DUOX2 | c.1245T>C (p.Pro415=) n.2410T>C | dbSNP |
| 15 | g.45108942A>T | CA490223542 | DUOX2 | c.1245T>A (p.Pro415=) n.2410T>A | |
| 15 | g.45108943G>A | CA392277039 | DUOX2 | c.1244C>T (p.Pro415Leu) n.2409C>T | dbSNP |
| 15 | g.45108943G>C | CA392277040 | DUOX2 | c.1244C>G (p.Pro415Arg) n.2409C>G | |
| 15 | g.45108943G= | CA2173935310 | DUOX2 | c.1244C= (p.Pro415=) n.2409C= | |
| 15 | g.45108943G>T | CA392277041 | DUOX2 | c.1244C>A (p.Pro415His) n.2409C>A | |
| 15 | g.45108944G>A | CA392277043 | DUOX2 | c.1243C>T (p.Pro415Ser) n.2408C>T | |
| 15 | g.45108944G>C | CA392277044 | DUOX2 | c.1243C>G (p.Pro415Ala) n.2408C>G | |
| 15 | g.45108944G>T | CA392277042 | DUOX2 | c.1243C>A (p.Pro415Thr) n.2408C>A | |
| 15 | g.45108945C>A | CA392277045 | DUOX2 | c.1242G>T (p.Trp414Cys) n.2407G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108945C= | CA2173935312 | DUOX2 | c.1242G= (p.Trp414=) n.2407G= | |
| 15 | g.45108945C>G | CA392277046 | DUOX2 | c.1242G>C (p.Trp414Cys) n.2407G>C | |
| 15 | g.45108945C>T | CA270132108 | DUOX2 | c.1242G>A (p.Trp414Ter) n.2407G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.45108946del | CA2628238980 | DUOX2 | c.1242del (p.Trp414CysfsTer?) n.2407del | gnomAD v4 |
| 15 | g.45108946C>A | CA392277047 | DUOX2 | c.1241G>T (p.Trp414Leu) n.2406G>T | |
| 15 | g.45108946C>G | CA392277048 | DUOX2 | c.1241G>C (p.Trp414Ser) n.2406G>C | |
| 15 | g.45108946C>T | CA392277049 | DUOX2 | c.1241G>A (p.Trp414Ter) n.2406G>A | |
| 15 | g.45108946_45108947delinsCA | CA2173935313 | DUOX2 | c.1240_1241delinsTG (p.Trp414=) n.2405_2406delinsTG | |
| 15 | g.45108947del | CA618007083 | DUOX2 | c.1240del (p.Trp414GlyfsTer?) n.2405del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108947A>C | CA392277050 | DUOX2 | c.1240T>G (p.Trp414Gly) n.2405T>G | |
| 15 | g.45108947A>G | CA392277051 | DUOX2 | c.1240T>C (p.Trp414Arg) n.2405T>C | |
| 15 | g.45108947A>T | CA392277052 | DUOX2 | c.1240T>A (p.Trp414Arg) n.2405T>A | |
| 15 | g.45108948G>A | CA7538673 | DUOX2 | c.1239C>T (p.Tyr413=) n.2404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108948G>C | CA392277053 | DUOX2 | c.1239C>G (p.Tyr413Ter) n.2404C>G | |
| 15 | g.45108948G= | CA2173935317 | DUOX2 | c.1239C= (p.Tyr413=) n.2404C= | |
| 15 | g.45108948G>T | CA392277054 | DUOX2 | c.1239C>A (p.Tyr413Ter) n.2404C>A | |
| 15 | g.45108949T>A | CA392277057 | DUOX2 | c.1238A>T (p.Tyr413Phe) n.2403A>T | |
| 15 | g.45108949T>C | CA392277055 | DUOX2 | c.1238A>G (p.Tyr413Cys) n.2403A>G | gnomAD v4 |
| 15 | g.45108949T>G | CA392277056 | DUOX2 | c.1238A>C (p.Tyr413Ser) n.2403A>C | dbSNP |
| 15 | g.45108949T= | CA2173935320 | DUOX2 | c.1238A= (p.Tyr413=) n.2403A= | |
| 15 | g.45108950A= | CA2173935321 | DUOX2 | c.1237T= (p.Tyr413=) n.2402T= | |
| 15 | g.45108950A>C | CA392277058 | DUOX2 | c.1237T>G (p.Tyr413Asp) n.2402T>G | |
| 15 | g.45108950A>G | CA392277059 | DUOX2 | c.1237T>C (p.Tyr413His) n.2402T>C | gnomAD v4 |
| 15 | g.45108950A>T | CA392277060 | DUOX2 | c.1237T>A (p.Tyr413Asn) n.2402T>A | ClinVar dbSNP |
| 15 | g.45108951A>C | CA392277061 | DUOX2 | c.1236T>G (p.Asp412Glu) n.2401T>G | |
| 15 | g.45108951A>G | CA490223599 | DUOX2 | c.1236T>C (p.Asp412=) n.2401T>C | |
| 15 | g.45108951A>T | CA392277062 | DUOX2 | c.1236T>A (p.Asp412Glu) n.2401T>A | |
| 15 | g.45108952T>A | CA392277063 | DUOX2 | c.1235A>T (p.Asp412Val) n.2400A>T | gnomAD v4 |
| 15 | g.45108952T>C | CA392277064 | DUOX2 | c.1235A>G (p.Asp412Gly) n.2400A>G | |
| 15 | g.45108952T>G | CA392277065 | DUOX2 | c.1235A>C (p.Asp412Ala) n.2400A>C | ClinVar |
| 15 | g.45108953del | CA2628238996 | DUOX2 | c.1235-1del (n.1235-1del) n.2399del | gnomAD v4 |
| 15 | g.45108953C>A | CA392277066 | DUOX2 | c.1235-1G>T (n.1235-1G>T) n.2399G>T | |
| 15 | g.45108953C>G | CA392277067 | DUOX2 | c.1235-1G>C (n.1235-1G>C) n.2399G>C | |
| 15 | g.45108953C>T | CA392277068 | DUOX2 | c.1235-1G>A (n.1235-1G>A) n.2399G>A | |
| 15 | g.45108954T>A | CA392277071 | DUOX2 | c.1235-2A>T (n.1235-2A>T) n.2398A>T | |
| 15 | g.45108954T>C | CA392277070 | DUOX2 | c.1235-2A>G (n.1235-2A>G) n.2398A>G | |
| 15 | g.45108954T>G | CA392277069 | DUOX2 | c.1235-2A>C (n.1235-2A>C) n.2398A>C | |
| 15 | g.45108958G>A | CA618007084 | DUOX2 | c.1235-6C>T (n.1235-6C>T) n.2394C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108958G>C | CA713144160 | DUOX2 | c.1235-6C>G (n.1235-6C>G) n.2394C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108958G= | CA2173935323 | DUOX2 | c.1235-6C= (n.1235-6C=) n.2394C= | |
| 15 | g.45108960G>A | CA2628239005 | DUOX2 | c.1235-8C>T (n.1235-8C>T) n.2392C>T | gnomAD v4 |
| 15 | g.45108960G= | CA2173935326 | DUOX2 | c.1235-8C= (n.1235-8C=) n.2392C= | |
| 15 | g.45108960G>T | CA2173935327 | DUOX2 | c.1235-8C>A (n.1235-8C>A) n.2392C>A | dbSNP |
| 15 | g.45108961G>A | CA2173935329 | DUOX2 | c.1235-9C>T (n.1235-9C>T) n.2391C>T | dbSNP gnomAD v4 |
| 15 | g.45108961G>C | CA2741425161 | DUOX2 | c.1235-9C>G (n.1235-9C>G) n.2391C>G | |
| 15 | g.45108961G= | CA2173935328 | DUOX2 | c.1235-9C= (n.1235-9C=) n.2391C= | |
| 15 | g.45108962_45108965delinsAGAG | CA2173935330 | DUOX2 | c.1235-13_1235-10delinsCTCT (n.1235-13_1235-10delinsCTCT) n.2387_2390delinsCTCT | |
| 15 | g.45108963_45108965del | CA7538674 | DUOX2 | c.1235-13_1235-11del (n.1235-13_1235-11del) n.2387_2389del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108967_45108969del | CA2628239007 | DUOX2 | c.1235-14_1235-12del (n.1235-14_1235-12del) n.2386_2388del | gnomAD v4 |
| 15 | g.45108966A>G | CA2739270815 | DUOX2 | c.1235-14T>C (n.1235-14T>C) n.2386T>C | ClinVar |
| 15 | g.45108968G>A | CA7538675 | DUOX2 | c.1235-16C>T (n.1235-16C>T) n.2384C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.45108968G= | CA2173935333 | DUOX2 | c.1235-16C= (n.1235-16C=) n.2384C= | |
| 15 | g.45108970C= | CA2173935336 | DUOX2 | c.1235-18G= (n.1235-18G=) n.2382G= | |
| 15 | g.45108970C>G | CA618007085 | DUOX2 | c.1235-18G>C (n.1235-18G>C) n.2382G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.45108970C>T | CA270132118 | DUOX2 | c.1235-18G>A (n.1235-18G>A) n.2382G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108971T>A | CA270132123 | DUOX2 | c.1235-19A>T (n.1235-19A>T) n.2381A>T | dbSNP gnomAD v4 |
| 15 | g.45108971T>G | CA2173935341 | DUOX2 | c.1235-19A>C (n.1235-19A>C) n.2381A>C | dbSNP |
| 15 | g.45108971T= | CA2173935340 | DUOX2 | c.1235-19A= (n.1235-19A=) n.2381A= | |
| 15 | g.45108974A= | CA2173935342 | DUOX2 | c.1235-22T= (n.1235-22T=) n.2378T= | |
| 15 | g.45108974A>C | CA618007086 | DUOX2 | c.1235-22T>G (n.1235-22T>G) n.2378T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108975C>A | CA2173935346 | DUOX2 | c.1235-23G>T (n.1235-23G>T) n.2377G>T | dbSNP gnomAD v4 |
| 15 | g.45108975C= | CA2173935345 | DUOX2 | c.1235-23G= (n.1235-23G=) n.2377G= | |
| 15 | g.45108975C>T | CA2628239015 | DUOX2 | c.1235-23G>A (n.1235-23G>A) n.2377G>A | gnomAD v4 |
| 15 | g.45108976T>C | CA7538676 | DUOX2 | c.1235-24A>G (n.1235-24A>G) n.2376A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108976T= | CA2173935349 | DUOX2 | c.1235-24A= (n.1235-24A=) n.2376A= | |
| 15 | g.45108977_45108978del | CA2628239017 | DUOX2 | c.1235-25_1235-24del (n.1235-25_1235-24del) n.2375_2376del | gnomAD v4 |
| 15 | g.45108977A= | CA2173935352 | DUOX2 | c.1235-25T= (n.1235-25T=) n.2375T= | |
| 15 | g.45108977A>G | CA7538677 | DUOX2 | c.1235-25T>C (n.1235-25T>C) n.2375T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108978T>C | CA2173935356 | DUOX2 | c.1235-26A>G (n.1235-26A>G) n.2374A>G | dbSNP |
| 15 | g.45108978T= | CA2173935354 | DUOX2 | c.1235-26A= (n.1235-26A=) n.2374A= | |
| 15 | g.45108980G>A | CA7538678 | DUOX2 | c.1235-28C>T (n.1235-28C>T) n.2372C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45108980G= | CA2173935358 | DUOX2 | c.1235-28C= (n.1235-28C=) n.2372C= | |
| 15 | g.45108981G>A | CA2173935360 | DUOX2 | c.1235-29C>T (n.1235-29C>T) n.2371C>T | dbSNP |
| 15 | g.45108981G= | CA2173935359 | DUOX2 | c.1235-29C= (n.1235-29C=) n.2371C= | |
| 15 | g.45108981G>T | CA2628239024 | DUOX2 | c.1235-29C>A (n.1235-29C>A) n.2371C>A | gnomAD v4 |
| 15 | g.45108982C= | CA2173935362 | DUOX2 | c.1235-30G= (n.1235-30G=) n.2370G= | |
| 15 | g.45108982C>G | CA713144179 | DUOX2 | c.1235-30G>C (n.1235-30G>C) n.2370G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.45108984T>C | CA2173935364 | DUOX2 | c.1235-32A>G (n.1235-32A>G) n.2368A>G | dbSNP |
| 15 | g.45108984T= | CA2173935363 | DUOX2 | c.1235-32A= (n.1235-32A=) n.2368A= | |
| 15 | g.45108986del | CA2628239027 | DUOX2 | c.1235-34del (n.1235-34del) n.2366del | gnomAD v4 |