Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50623847G>A | CA325530763 | ARSA | c.*1298C>T (n.*1298C>T) c.229C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623847G>C | CA2657589295 | ARSA | c.*1298C>G (n.*1298C>G) c.229C>G | gnomAD v4 |
22 | g.50623847G= | CA2410957615 | ARSA | c.*1298C= (n.*1298C=) c.229C= | |
22 | g.50623847G>T | CA2657589294 | ARSA | c.*1298C>A (n.*1298C>A) c.229C>A | gnomAD v4 |
22 | g.50623848G>A | CA2657589296 | ARSA | c.*1297C>T (n.*1297C>T) c.228C>T | gnomAD v4 |
22 | g.50623849A>G | CA2657589297 | ARSA | c.*1296T>C (n.*1296T>C) c.227T>C | gnomAD v4 |
22 | g.50623849_50623854delinsAGATGG | CA2410957616 | ARSA | c.*1291_*1296delinsCCATCT (n.*1291_*1296delinsCCATCT) c.222_227delinsCCATCT | |
22 | g.50623850_50623854del | CA2410957617 | ARSA | c.*1291_*1295del (n.*1291_*1295del) c.222_226del | dbSNP |
22 | g.50623852T>C | CA1026678540 | ARSA | c.*1293A>G (n.*1293A>G) c.224A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623852T>G | CA1026678536 | ARSA | c.*1293A>C (n.*1293A>C) c.224A>C | gnomAD v3 gnomAD v4 |
22 | g.50623852T= | CA2410957618 | ARSA | c.*1293A= (n.*1293A=) c.224A= | |
22 | g.50623853G>A | CA2410957620 | ARSA | c.*1292C>T (n.*1292C>T) c.223C>T | dbSNP |
22 | g.50623853G>C | CA1026678542 | ARSA | c.*1292C>G (n.*1292C>G) c.223C>G | gnomAD v3 gnomAD v4 |
22 | g.50623853G= | CA2410957619 | ARSA | c.*1292C= (n.*1292C=) c.223C= | |
22 | g.50623853G>T | CA1026678544 | ARSA | c.*1292C>A (n.*1292C>A) c.223C>A | gnomAD v3 gnomAD v4 |
22 | g.50623854G>A | CA1026678547 | ARSA | c.*1291C>T (n.*1291C>T) c.222C>T | gnomAD v3 gnomAD v4 |
22 | g.50623855T>A | CA640051222 | ARSA | c.*1290A>T (n.*1290A>T) c.221A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623855T>C | CA325530766 | ARSA | c.*1290A>G (n.*1290A>G) c.221A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623855T= | CA2410957621 | ARSA | c.*1290A= (n.*1290A=) c.221A= | |
22 | g.50623856A= | CA2410957622 | ARSA | c.*1289T= (n.*1289T=) c.220T= | |
22 | g.50623856A>G | CA1026678551 | ARSA | c.*1289T>C (n.*1289T>C) c.220T>C | gnomAD v3 gnomAD v4 |
22 | g.50623856A>T | CA2410957623 | ARSA | c.*1289T>A (n.*1289T>A) c.220T>A | dbSNP |
22 | g.50623858C>A | CA2657589300 | ARSA | c.*1287G>T (n.*1287G>T) c.218G>T | gnomAD v4 |
22 | g.50623858C= | CA2410957624 | ARSA | c.*1287G= (n.*1287G=) c.218G= | |
22 | g.50623858C>T | CA2410957625 | ARSA | c.*1287G>A (n.*1287G>A) c.218G>A | dbSNP gnomAD v4 |
22 | g.50623859A= | CA2410957626 | ARSA | c.*1286T= (n.*1286T=) c.217T= | |
22 | g.50623859A>C | CA325530768 | ARSA | c.*1286T>G (n.*1286T>G) c.217T>G | dbSNP gnomAD v4 |
22 | g.50623860C= | CA2410957627 | ARSA | c.*1285G= (n.*1285G=) c.216G= | |
22 | g.50623860C>T | CA325530774 | ARSA | c.*1285G>A (n.*1285G>A) c.216G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623861T>A | CA2657589304 | ARSA | c.*1284A>T (n.*1284A>T) c.215A>T | gnomAD v4 |
22 | g.50623861T>C | CA2657589305 | ARSA | c.*1284A>G (n.*1284A>G) c.215A>G | gnomAD v4 |
22 | g.50623862G>A | CA1026678556 | ARSA | c.*1283C>T (n.*1283C>T) c.214C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623862G= | CA2410957628 | ARSA | c.*1283C= (n.*1283C=) c.214C= | |
22 | g.50623862G>T | CA2657589306 | ARSA | c.*1283C>A (n.*1283C>A) c.214C>A | gnomAD v4 |
22 | g.50623863C= | CA2410957630 | ARSA | c.*1282G= (n.*1282G=) c.213G= | |
22 | g.50623863C>G | CA2657589307 | ARSA | c.*1282G>C (n.*1282G>C) c.213G>C | gnomAD v4 |
22 | g.50623863C>T | CA325530777 | ARSA | c.*1282G>A (n.*1282G>A) c.213G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623864_50623865dup | CA2410957629 | ARSA | c.*1281_*1282dup (n.*1281_*1282dup) c.212_213dup | dbSNP |
22 | g.50623864A= | CA2410957631 | ARSA | c.*1281T= (n.*1281T=) c.212T= | |
22 | g.50623864A>C | CA640051223 | ARSA | c.*1281T>G (n.*1281T>G) c.212T>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50623865C>A | CA2657589308 | ARSA | c.*1280G>T (n.*1280G>T) c.211G>T | gnomAD v4 |
22 | g.50623866T>A | CA2657589310 | ARSA | c.*1279A>T (n.*1279A>T) c.210A>T | gnomAD v4 |
22 | g.50623866T>C | CA2657589311 | ARSA | c.*1279A>G (n.*1279A>G) c.210A>G | gnomAD v4 |
22 | g.50623867C>A | CA2657589312 | ARSA | c.*1278G>T (n.*1278G>T) c.209G>T | gnomAD v4 |
22 | g.50623868T>C | CA754066222 | ARSA | c.*1277A>G (n.*1277A>G) c.208A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623868T>G | CA2657589313 | ARSA | c.*1277A>C (n.*1277A>C) c.208A>C | gnomAD v4 |
22 | g.50623868T= | CA2410957632 | ARSA | c.*1277A= (n.*1277A=) c.208A= | |
22 | g.50623869A>C | CA2657589314 | ARSA | c.*1276T>G (n.*1276T>G) c.207T>G | gnomAD v4 |
22 | g.50623869A>G | CA2657589315 | ARSA | c.*1276T>C (n.*1276T>C) c.207T>C | gnomAD v4 |
22 | g.50623870G>A | CA2657589316 | ARSA | c.*1275C>T (n.*1275C>T) c.206C>T | gnomAD v4 |
22 | g.50623872C= | CA2410957634 | ARSA | c.*1273G= (n.*1273G=) c.204G= | |
22 | g.50623872C>G | CA2410957633 | ARSA | c.*1273G>C (n.*1273G>C) c.204G>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623872C>T | CA754066225 | ARSA | c.*1273G>A (n.*1273G>A) c.204G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623873T>A | CA2657589317 | ARSA | c.*1272A>T (n.*1272A>T) c.203A>T | gnomAD v4 |
22 | g.50623873T>C | CA2657589318 | ARSA | c.*1272A>G (n.*1272A>G) c.203A>G | gnomAD v4 |
22 | g.50623874G>A | CA754066231 | ARSA | c.*1271C>T (n.*1271C>T) c.202C>T | dbSNP gnomAD v4 |
22 | g.50623874G= | CA2410957635 | ARSA | c.*1271C= (n.*1271C=) c.202C= | |
22 | g.50623874G>T | CA2552954872 | ARSA | c.*1271C>A (n.*1271C>A) c.202C>A | |
22 | g.50623875G>A | CA2657589321 | ARSA | c.*1270C>T (n.*1270C>T) c.201C>T | gnomAD v4 |
22 | g.50623875G>C | CA2657589319 | ARSA | c.*1270C>G (n.*1270C>G) c.201C>G | gnomAD v4 |
22 | g.50623875G>T | CA2657589320 | ARSA | c.*1270C>A (n.*1270C>A) c.201C>A | gnomAD v4 |
22 | g.50623876G>T | CA2657589322 | ARSA | c.*1269C>A (n.*1269C>A) c.200C>A | gnomAD v4 |
22 | g.50623877C>A | CA1026678560 | ARSA | c.*1268G>T (n.*1268G>T) c.199G>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623877C= | CA2410957636 | ARSA | c.*1268G= (n.*1268G=) c.199G= | |
22 | g.50623877C>G | CA2410957637 | ARSA | c.*1268G>C (n.*1268G>C) c.199G>C | dbSNP gnomAD v4 |
22 | g.50623877C>T | CA640051224 | ARSA | c.*1268G>A (n.*1268G>A) c.199G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623878G>A | CA10654217 | ARSA | c.*1267C>T (n.*1267C>T) c.198C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623878G= | CA2410957639 | ARSA | c.*1267C= (n.*1267C=) c.198C= | |
22 | g.50623878G>T | CA2657589326 | ARSA | c.*1267C>A (n.*1267C>A) c.198C>A | gnomAD v4 |
22 | g.50623878_50623880delinsGAC | CA2410957638 | ARSA | c.*1265_*1267delinsGTC (n.*1265_*1267delinsGTC) c.196_198delinsGTC | |
22 | g.50623879A>G | CA2657589327 | ARSA | c.*1266T>C (n.*1266T>C) c.197T>C | gnomAD v4 |
22 | g.50623880_50623881del | CA2410957640 | ARSA | c.*1265_*1266del (n.*1265_*1266del) c.196_197del | dbSNP |
22 | g.50623880C>A | CA2657589329 | ARSA | c.*1265G>T (n.*1265G>T) c.196G>T | gnomAD v4 |
22 | g.50623880C= | CA2410957641 | ARSA | c.*1265G= (n.*1265G=) c.196G= | |
22 | g.50623880C>G | CA640051225 | ARSA | c.*1265G>C (n.*1265G>C) c.196G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623880C>T | CA2819315314 | ARSA | c.*1265G>A (n.*1265G>A) c.196G>A | |
22 | g.50623881A= | CA2410957642 | ARSA | c.*1264T= (n.*1264T=) c.195T= | |
22 | g.50623881A>G | CA325530783 | ARSA | c.*1264T>C (n.*1264T>C) c.195T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623882G>C | CA325530786 | ARSA | c.*1263C>G (n.*1263C>G) c.194C>G | dbSNP |
22 | g.50623882G= | CA2410957643 | ARSA | c.*1263C= (n.*1263C=) c.194C= | |
22 | g.50623883A>G | CA2657589330 | ARSA | c.*1262T>C (n.*1262T>C) c.193T>C | gnomAD v4 |
22 | g.50623884G>A | CA2657589332 | ARSA | c.*1261C>T (n.*1261C>T) c.192C>T | gnomAD v4 |
22 | g.50623884G>T | CA2657589331 | ARSA | c.*1261C>A (n.*1261C>A) c.192C>A | gnomAD v4 |
22 | g.50623885C>A | CA325530790 | ARSA | c.*1260G>T (n.*1260G>T) c.191G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623885C= | CA2410957644 | ARSA | c.*1260G= (n.*1260G=) c.191G= | |
22 | g.50623885C>G | CA2657589334 | ARSA | c.*1260G>C (n.*1260G>C) c.191G>C | gnomAD v4 |
22 | g.50623885C>T | CA1026678573 | ARSA | c.*1260G>A (n.*1260G>A) c.191G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623886G>A | CA754066246 | ARSA | c.*1259C>T (n.*1259C>T) c.190C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623886G>C | CA2410957646 | ARSA | c.*1259C>G (n.*1259C>G) c.190C>G | dbSNP |
22 | g.50623886G= | CA2410957645 | ARSA | c.*1259C= (n.*1259C=) c.190C= | |
22 | g.50623886G>T | CA2657589336 | ARSA | c.*1259C>A (n.*1259C>A) c.190C>A | gnomAD v4 |
22 | g.50623887A>C | CA2819315317 | ARSA | c.*1258T>G (n.*1258T>G) c.189T>G | |
22 | g.50623887A>G | CA2657589338 | ARSA | c.*1258T>C (n.*1258T>C) c.189T>C | gnomAD v4 |
22 | g.50623887A>T | CA2657589339 | ARSA | c.*1258T>A (n.*1258T>A) c.189T>A | gnomAD v4 |
22 | g.50623888G>A | CA1026678582 | ARSA | c.*1257C>T (n.*1257C>T) c.188C>T | gnomAD v3 gnomAD v4 |
22 | g.50623888G>C | CA2657589341 | ARSA | c.*1257C>G (n.*1257C>G) c.188C>G | gnomAD v4 |
22 | g.50623888G= | CA2410957647 | ARSA | c.*1257C= (n.*1257C=) c.188C= | |
22 | g.50623888G>T | CA2410957648 | ARSA | c.*1257C>A (n.*1257C>A) c.188C>A | dbSNP gnomAD v4 |
22 | g.50623889A>C | CA2657589344 | ARSA | c.*1256T>G (n.*1256T>G) c.187T>G | gnomAD v4 |
22 | g.50623889A>G | CA2657589345 | ARSA | c.*1256T>C (n.*1256T>C) c.187T>C | gnomAD v4 |
22 | g.50623889A>T | CA2657589346 | ARSA | c.*1256T>A (n.*1256T>A) c.187T>A | gnomAD v4 |
22 | g.50623890C>A | CA2410957650 | ARSA | c.*1255G>T (n.*1255G>T) c.186G>T | dbSNP gnomAD v4 |
22 | g.50623890C= | CA2410957649 | ARSA | c.*1255G= (n.*1255G=) c.186G= | |
22 | g.50623890C>T | CA2514617804 | ARSA | c.*1255G>A (n.*1255G>A) c.186G>A | |
22 | g.50623891T>A | CA2657589350 | ARSA | c.*1254A>T (n.*1254A>T) c.185A>T | gnomAD v4 |
22 | g.50623891T>C | CA1026678584 | ARSA | c.*1254A>G (n.*1254A>G) c.185A>G | gnomAD v3 gnomAD v4 |
22 | g.50623891T>G | CA2657589349 | ARSA | c.*1254A>C (n.*1254A>C) c.185A>C | gnomAD v4 |
22 | g.50623893C>A | CA2657589353 | ARSA | c.*1252G>T (n.*1252G>T) c.183G>T | gnomAD v4 |
22 | g.50623893C= | CA2410957651 | ARSA | c.*1252G= (n.*1252G=) c.183G= | |
22 | g.50623893C>T | CA640051226 | ARSA | c.*1252G>A (n.*1252G>A) c.183G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623894G>A | CA640051228 | ARSA | c.*1251C>T (n.*1251C>T) c.182C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623894G>C | CA2657589358 | ARSA | c.*1251C>G (n.*1251C>G) c.182C>G | gnomAD v4 |
22 | g.50623894G= | CA2410957652 | ARSA | c.*1251C= (n.*1251C=) c.182C= | |
22 | g.50623894G>T | CA2552349916 | ARSA | c.*1251C>A (n.*1251C>A) c.182C>A | gnomAD v4 |
22 | g.50623895T>A | CA2657589359 | ARSA | c.*1250A>T (n.*1250A>T) c.181A>T | gnomAD v4 |
22 | g.50623895T>C | CA2410957654 | ARSA | c.*1250A>G (n.*1250A>G) c.181A>G | dbSNP gnomAD v4 |
22 | g.50623895T= | CA2410957653 | ARSA | c.*1250A= (n.*1250A=) c.181A= | |
22 | g.50623896C>A | CA2657589362 | ARSA | c.*1249G>T (n.*1249G>T) c.181-1G>T | gnomAD v4 |
22 | g.50623896C>G | CA2657589363 | ARSA | c.*1249G>C (n.*1249G>C) c.181-1G>C | gnomAD v4 |
22 | g.50623896_50623928delinsCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2410957655 | ARSA | c.*1217_*1249delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG (n.*1217_*1249delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG) c.181-33_181-1delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG | |
22 | g.50623897T>C | CA2410957657 | ARSA | c.*1248A>G (n.*1248A>G) c.181-2A>G | dbSNP gnomAD v4 |
22 | g.50623897T= | CA2410957658 | ARSA | c.*1248A= (n.*1248A=) c.181-2A= | |
22 | g.50623897_50623928del | CA2410957656 | ARSA | c.*1217_*1248del (n.*1217_*1248del) c.181-33_181-2del | dbSNP |
22 | g.50623897_50623929delinsTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2410957659 | ARSA | c.*1216_*1248delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA (n.*1216_*1248delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA) c.181-34_181-2delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA | |
22 | g.50623897_50623898insA | CA1026678592 | ARSA | c.*1247_*1248insT (n.*1247_*1248insT) c.181-3_181-2insT | gnomAD v3 gnomAD v4 |
22 | g.50623897_50623898insAAAAA | CA1026678594 | ARSA | c.*1247_*1248insTTTTT (n.*1247_*1248insTTTTT) c.181-3_181-2insTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623898C>A | CA1026678591 | ARSA | c.*1247G>T (n.*1247G>T) c.181-3G>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623898C= | CA2410957661 | ARSA | c.*1247G= (n.*1247G=) c.181-3G= | |
22 | g.50623898_50623929del | CA920392292 | ARSA | c.*1216_*1247del (n.*1216_*1247del) c.181-34_181-3del | dbSNP gnomAD v4 |
22 | g.50623898_50623931delinsCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2410957660 | ARSA | c.*1214_*1247delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG (n.*1214_*1247delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG) c.181-36_181-3delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG | |
22 | g.50623899A= | CA2410957662 | ARSA | c.*1246T= (n.*1246T=) c.181-4T= | |
22 | g.50623899A>C | CA640051233 | ARSA | c.*1246T>G (n.*1246T>G) c.181-4T>G | dbSNP gnomAD v2 |
22 | g.50623901_50623902insCAAAAAAAAAA | CA2819315455 | ARSA | c.*1246_*1247insTTTTTTTGTTT (n.*1246_*1247insTTTTTTTGTTT) c.181-4_181-3insTTTTTTTGTTT | |
22 | g.50623938dup | CA754066296 | ARSA | c.*1246dup (n.*1246dup) c.181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623937_50623938dup | CA754066294 | ARSA | c.*1245_*1246dup (n.*1245_*1246dup) c.181-5_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623936_50623938dup | CA640051241 | ARSA | c.*1244_*1246dup (n.*1244_*1246dup) c.181-6_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623935_50623938dup | CA640051231 | ARSA | c.*1243_*1246dup (n.*1243_*1246dup) c.181-7_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623934_50623938dup | CA640051239 | ARSA | c.*1242_*1246dup (n.*1242_*1246dup) c.181-8_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623933_50623938dup | CA640051238 | ARSA | c.*1241_*1246dup (n.*1241_*1246dup) c.181-9_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623932_50623938dup | CA640051236 | ARSA | c.*1240_*1246dup (n.*1240_*1246dup) c.181-10_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623931_50623938dup | CA1026678706 | ARSA | c.*1239_*1246dup (n.*1239_*1246dup) c.181-11_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623930_50623938dup | CA1026678708 | ARSA | c.*1238_*1246dup (n.*1238_*1246dup) c.181-12_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623929_50623938dup | CA1026678709 | ARSA | c.*1237_*1246dup (n.*1237_*1246dup) c.181-13_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623928_50623938dup | CA640051234 | ARSA | c.*1236_*1246dup (n.*1236_*1246dup) c.181-14_181-4dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623927_50623938dup | CA1026678712 | ARSA | c.*1235_*1246dup (n.*1235_*1246dup) c.181-15_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623926_50623938dup | CA1026678717 | ARSA | c.*1234_*1246dup (n.*1234_*1246dup) c.181-16_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623925_50623938dup | CA1026678720 | ARSA | c.*1233_*1246dup (n.*1233_*1246dup) c.181-17_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623924_50623938dup | CA1026678740 | ARSA | c.*1232_*1246dup (n.*1232_*1246dup) c.181-18_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623923_50623938dup | CA1026678723 | ARSA | c.*1231_*1246dup (n.*1231_*1246dup) c.181-19_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623922_50623938dup | CA1026678746 | ARSA | c.*1230_*1246dup (n.*1230_*1246dup) c.181-20_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623921_50623938dup | CA1026678744 | ARSA | c.*1229_*1246dup (n.*1229_*1246dup) c.181-21_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623920_50623938dup | CA1026678703 | ARSA | c.*1228_*1246dup (n.*1228_*1246dup) c.181-22_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623919_50623938dup | CA1026678737 | ARSA | c.*1227_*1246dup (n.*1227_*1246dup) c.181-23_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623918_50623938dup | CA1026678735 | ARSA | c.*1226_*1246dup (n.*1226_*1246dup) c.181-24_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623917_50623938dup | CA1026678748 | ARSA | c.*1225_*1246dup (n.*1225_*1246dup) c.181-25_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623916_50623938dup | CA1026678732 | ARSA | c.*1224_*1246dup (n.*1224_*1246dup) c.181-26_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623915_50623938dup | CA1026678730 | ARSA | c.*1223_*1246dup (n.*1223_*1246dup) c.181-27_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623913_50623938dup | CA1026678729 | ARSA | c.*1221_*1246dup (n.*1221_*1246dup) c.181-29_181-4dup | gnomAD v3 gnomAD v4 |
22 | g.50623912_50623938dup | CA1026678728 | ARSA | c.*1220_*1246dup (n.*1220_*1246dup) c.181-30_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623911_50623938dup | CA1026678727 | ARSA | c.*1219_*1246dup (n.*1219_*1246dup) c.181-31_181-4dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623910_50623938dup | CA1026678704 | ARSA | c.*1218_*1246dup (n.*1218_*1246dup) c.181-32_181-4dup | gnomAD v3 gnomAD v4 |
22 | g.50623907_50623938dup | CA1026678724 | ARSA | c.*1215_*1246dup (n.*1215_*1246dup) c.181-35_181-4dup | gnomAD v3 gnomAD v4 |
22 | g.50623906_50623938dup | CA1026678644 | ARSA | c.*1214_*1246dup (n.*1214_*1246dup) c.181-36_181-4dup | |
22 | g.50623902_50623938dup | CA2556042503 | ARSA | c.*1210_*1246dup (n.*1210_*1246dup) c.181-40_181-4dup | |
22 | g.50623938del | CA1026678647 | ARSA | c.*1246del (n.*1246del) c.181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623937_50623938del | CA1026678650 | ARSA | c.*1245_*1246del (n.*1245_*1246del) c.181-5_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623936_50623938del | CA754066291 | ARSA | c.*1244_*1246del (n.*1244_*1246del) c.181-6_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623935_50623938del | CA754066287 | ARSA | c.*1243_*1246del (n.*1243_*1246del) c.181-7_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623934_50623938del | CA1026678653 | ARSA | c.*1242_*1246del (n.*1242_*1246del) c.181-8_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623932_50623938del | CA2535595707 | ARSA | c.*1240_*1246del (n.*1240_*1246del) c.181-10_181-4del | |
22 | g.50623931_50623938del | CA1026678664 | ARSA | c.*1239_*1246del (n.*1239_*1246del) c.181-11_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623930_50623938del | CA1026678665 | ARSA | c.*1238_*1246del (n.*1238_*1246del) c.181-12_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623929_50623938del | CA1026678667 | ARSA | c.*1237_*1246del (n.*1237_*1246del) c.181-13_181-4del | gnomAD v3 gnomAD v4 |
22 | g.50623928_50623938del | CA754066280 | ARSA | c.*1236_*1246del (n.*1236_*1246del) c.181-14_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623927_50623938del | CA754066278 | ARSA | c.*1235_*1246del (n.*1235_*1246del) c.181-15_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623926_50623938del | CA1026678673 | ARSA | c.*1234_*1246del (n.*1234_*1246del) c.181-16_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623925_50623938del | CA1026678675 | ARSA | c.*1233_*1246del (n.*1233_*1246del) c.181-17_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623924_50623938del | CA1026678679 | ARSA | c.*1232_*1246del (n.*1232_*1246del) c.181-18_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623923_50623938del | CA1026678642 | ARSA | c.*1231_*1246del (n.*1231_*1246del) c.181-19_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623922_50623938del | CA1026678684 | ARSA | c.*1230_*1246del (n.*1230_*1246del) c.181-20_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623921_50623938del | CA754066275 | ARSA | c.*1229_*1246del (n.*1229_*1246del) c.181-21_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623920_50623938del | CA754066274 | ARSA | c.*1228_*1246del (n.*1228_*1246del) c.181-22_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623919_50623938del | CA1026678688 | ARSA | c.*1227_*1246del (n.*1227_*1246del) c.181-23_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623918_50623938del | CA1026678690 | ARSA | c.*1226_*1246del (n.*1226_*1246del) c.181-24_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623917_50623938del | CA1026678691 | ARSA | c.*1225_*1246del (n.*1225_*1246del) c.181-25_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623916_50623938del | CA1026678693 | ARSA | c.*1224_*1246del (n.*1224_*1246del) c.181-26_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623915_50623938del | CA754066273 | ARSA | c.*1223_*1246del (n.*1223_*1246del) c.181-27_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623913_50623938del | CA754066270 | ARSA | c.*1221_*1246del (n.*1221_*1246del) c.181-29_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623912_50623938del | CA2410957663 | ARSA | c.*1220_*1246del (n.*1220_*1246del) c.181-30_181-4del | dbSNP |
22 | g.50623911_50623938del | CA1026678698 | ARSA | c.*1219_*1246del (n.*1219_*1246del) c.181-31_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623909_50623938del | CA2657589493 | ARSA | c.*1217_*1246del (n.*1217_*1246del) c.181-33_181-4del | gnomAD v4 |
22 | g.50623908_50623938del | CA754066265 | ARSA | c.*1216_*1246del (n.*1216_*1246del) c.181-34_181-4del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623907_50623938del | CA10324706 | ARSA | c.*1215_*1246del (n.*1215_*1246del) c.181-35_181-4del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623906_50623938del | CA2410957664 | ARSA | c.*1214_*1246del (n.*1214_*1246del) c.181-36_181-4del | dbSNP gnomAD v4 |
22 | g.50623900A= | CA2410957665 | ARSA | c.*1245T= (n.*1245T=) c.181-5T= | |
22 | g.50623900A>C | CA640051243 | ARSA | c.*1245T>G (n.*1245T>G) c.181-5T>G | dbSNP gnomAD v2 |
22 | g.50623902A= | CA2410957666 | ARSA | c.*1243T= (n.*1243T=) c.181-7T= | |
22 | g.50623902A>G | CA2410957667 | ARSA | c.*1243T>C (n.*1243T>C) c.181-7T>C | dbSNP |
22 | g.50623906_50623907insCAAAAA | CA2819315470 | ARSA | c.*1243_*1244insGTTTTT (n.*1243_*1244insGTTTTT) c.181-7_181-6insGTTTTT | |
22 | g.50623903A>T | CA2819315471 | ARSA | c.*1242T>A (n.*1242T>A) c.181-8T>A | |
22 | g.50623906_50623907insCAAAA | CA640051244 | ARSA | c.*1242_*1243insGTTTT (n.*1242_*1243insGTTTT) c.181-8_181-7insGTTTT | dbSNP gnomAD v2 |
22 | g.50623904A>C | CA2819315473 | ARSA | c.*1241T>G (n.*1241T>G) c.181-9T>G | |
22 | g.50623915_50623916insGAAAAAAAAAAAA | CA2819315472 | ARSA | c.*1241_*1242insCTTTTTTTTTTTT (n.*1241_*1242insCTTTTTTTTTTTT) c.181-9_181-8insCTTTTTTTTTTTT | |
22 | g.50623905A= | CA2410957668 | ARSA | c.*1240T= (n.*1240T=) c.181-10T= | |
22 | g.50623905A>C | CA640051246 | ARSA | c.*1240T>G (n.*1240T>G) c.181-10T>G | dbSNP gnomAD v2 |
22 | g.50623906A= | CA2410957670 | ARSA | c.*1239T= (n.*1239T=) c.181-11T= | |
22 | g.50623906A>C | CA640051248 | ARSA | c.*1239T>G (n.*1239T>G) c.181-11T>G | dbSNP gnomAD v2 |
22 | g.50623906A>T | CA2410957669 | ARSA | c.*1239T>A (n.*1239T>A) c.181-11T>A | dbSNP |
22 | g.50623907A= | CA2410957671 | ARSA | c.*1238T= (n.*1238T=) c.181-12T= | |
22 | g.50623907A>C | CA10651547 | ARSA | c.*1238T>G (n.*1238T>G) c.181-12T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623907_50623939delinsAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC | CA2410957672 | ARSA | c.*1206_*1238delinsGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1206_*1238delinsGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.181-44_181-12delinsGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623908A= | CA2410957673 | ARSA | c.*1237T= (n.*1237T=) c.181-13T= | |
22 | g.50623908A>C | CA2410957674 | ARSA | c.*1237T>G (n.*1237T>G) c.181-13T>G | dbSNP gnomAD v4 |
22 | g.50623913_50623914insCAAAAAA | CA640051253 | ARSA | c.*1237_*1238insGTTTTTT (n.*1237_*1238insGTTTTTT) c.181-13_181-12insGTTTTTT | gnomAD v2 |
22 | g.50623915_50623916insGAAAAAAAA | CA2819315481 | ARSA | c.*1237_*1238insCTTTTTTTT (n.*1237_*1238insCTTTTTTTT) c.181-13_181-12insCTTTTTTTT | |
22 | g.50623913_50623944del | CA754066310 | ARSA | c.*1206_*1237del (n.*1206_*1237del) c.181-44_181-13del | dbSNP gnomAD v4 |
22 | g.50623909A= | CA2410957675 | ARSA | c.*1236T= (n.*1236T=) c.181-14T= | |
22 | g.50623909A>C | CA1026678759 | ARSA | c.*1236T>G (n.*1236T>G) c.181-14T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623913_50623914insCAAAAA | CA640051255 | ARSA | c.*1236_*1237insGTTTTT (n.*1236_*1237insGTTTTT) c.181-14_181-13insGTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623915_50623916insGAAAAAAA | CA2819315487 | ARSA | c.*1236_*1237insCTTTTTTT (n.*1236_*1237insCTTTTTTT) c.181-14_181-13insCTTTTTTT | |
22 | g.50623910A= | CA2410957676 | ARSA | c.*1235T= (n.*1235T=) c.181-15T= | |
22 | g.50623910A>C | CA2410957677 | ARSA | c.*1235T>G (n.*1235T>G) c.181-15T>G | dbSNP |
22 | g.50623911A= | CA2410957678 | ARSA | c.*1234T= (n.*1234T=) c.181-16T= | |
22 | g.50623911A>C | CA1026678761 | ARSA | c.*1234T>G (n.*1234T>G) c.181-16T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623912A= | CA2410957679 | ARSA | c.*1233T= (n.*1233T=) c.181-17T= | |
22 | g.50623912A>C | CA2410957680 | ARSA | c.*1233T>G (n.*1233T>G) c.181-17T>G | dbSNP |
22 | g.50623913_50623914insCAA | CA2819315495 | ARSA | c.*1233_*1234insGTT (n.*1233_*1234insGTT) c.181-17_181-16insGTT | |
22 | g.50623914_50623915insCAAA | CA2592021825 | ARSA | c.*1233_*1234insGTTT (n.*1233_*1234insGTTT) c.181-17_181-16insGTTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623913A= | CA2410957681 | ARSA | c.*1232T= (n.*1232T=) c.181-18T= | |
22 | g.50623913A>C | CA325530807 | ARSA | c.*1232T>G (n.*1232T>G) c.181-18T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623913_50623914insCA | CA2410957682 | ARSA | c.*1232_*1233insGT (n.*1232_*1233insGT) c.181-18_181-17insGT | dbSNP |
22 | g.50623914_50623915insCAA | CA1026678762 | ARSA | c.*1232_*1233insGTT (n.*1232_*1233insGTT) c.181-18_181-17insGTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623918_50623944del | CA2819315501 | ARSA | c.*1206_*1232del (n.*1206_*1232del) c.181-44_181-18del | |
22 | g.50623913_50623914insC | CA2410957683 | ARSA | c.*1231_*1232insG (n.*1231_*1232insG) c.181-19_181-18insG | dbSNP |
22 | g.50623914A= | CA2410957684 | ARSA | c.*1231T= (n.*1231T=) c.181-19T= | |
22 | g.50623914A>C | CA1026678766 | ARSA | c.*1231T>G (n.*1231T>G) c.181-19T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623914_50623915insCA | CA640051258 | ARSA | c.*1231_*1232insGT (n.*1231_*1232insGT) c.181-19_181-18insGT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623915_50623916insCAA | CA1026678765 | ARSA | c.*1231_*1232insGTT (n.*1231_*1232insGTT) c.181-19_181-18insGTT | gnomAD v3 gnomAD v4 |
22 | g.50623914_50623939delinsAAAAAAAAAAAAAAAAAAAAAAAAAC | CA2410957685 | ARSA | c.*1206_*1231delinsGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1206_*1231delinsGTTTTTTTTTTTTTTTTTTTTTTTTT) c.181-44_181-19delinsGTTTTTTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623914_50623915insC | CA1026678769 | ARSA | c.*1230_*1231insG (n.*1230_*1231insG) c.181-20_181-19insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623915A= | CA2410957686 | ARSA | c.*1230T= (n.*1230T=) c.181-20T= | |
22 | g.50623915A>C | CA640051259 | ARSA | c.*1230T>G (n.*1230T>G) c.181-20T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623915_50623916insGA | CA2819315507 | ARSA | c.*1230_*1231insCT (n.*1230_*1231insCT) c.181-20_181-19insCT | |
22 | g.50623937_50623938insTAAAAAAAAAAAAAAAAAAAAAAA | CA1026678770 | ARSA | c.*1230_*1231insATTTTTTTTTTTTTTTTTTTTTTT (n.*1230_*1231insATTTTTTTTTTTTTTTTTTTTTTT) c.181-20_181-19insATTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623915_50623939delinsAAAAAAAAAAAAAAAAAAAAAAAAC | CA2410957687 | ARSA | c.*1206_*1230delinsGTTTTTTTTTTTTTTTTTTTTTTTT (n.*1206_*1230delinsGTTTTTTTTTTTTTTTTTTTTTTTT) c.181-44_181-20delinsGTTTTTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623920_50623944del | CA1026678772 | ARSA | c.*1206_*1230del (n.*1206_*1230del) c.181-44_181-20del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623916A= | CA2410957690 | ARSA | c.*1229T= (n.*1229T=) c.181-21T= | |
22 | g.50623916A>C | CA2410957689 | ARSA | c.*1229T>G (n.*1229T>G) c.181-21T>G | dbSNP |
22 | g.50623916A>G | CA2819315510 | ARSA | c.*1229T>C (n.*1229T>C) c.181-21T>C | |
22 | g.50623916_50623939delinsAAAAAAAAAAAAAAAAAAAAAAAC | CA2410957688 | ARSA | c.*1206_*1229delinsGTTTTTTTTTTTTTTTTTTTTTTT (n.*1206_*1229delinsGTTTTTTTTTTTTTTTTTTTTTTT) c.181-44_181-21delinsGTTTTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623921_50623944del | CA1026678774 | ARSA | c.*1206_*1229del (n.*1206_*1229del) c.181-44_181-21del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623917A= | CA2410957691 | ARSA | c.*1228T= (n.*1228T=) c.181-22T= | |
22 | g.50623917A>C | CA2410957692 | ARSA | c.*1228T>G (n.*1228T>G) c.181-22T>G | dbSNP |
22 | g.50623917A>T | CA2410957693 | ARSA | c.*1228T>A (n.*1228T>A) c.181-22T>A | dbSNP |
22 | g.50623919_50623920insCAAA | CA640051263 | ARSA | c.*1228_*1229insGTTT (n.*1228_*1229insGTTT) c.181-22_181-21insGTTT | dbSNP gnomAD v2 |
22 | g.50623917_50623939delinsAAAAAAAAAAAAAAAAAAAAAAC | CA2410957694 | ARSA | c.*1206_*1228delinsGTTTTTTTTTTTTTTTTTTTTTT (n.*1206_*1228delinsGTTTTTTTTTTTTTTTTTTTTTT) c.181-44_181-22delinsGTTTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623922_50623944del | CA1026678778 | ARSA | c.*1206_*1228del (n.*1206_*1228del) c.181-44_181-22del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623918A= | CA2410957695 | ARSA | c.*1227T= (n.*1227T=) c.181-23T= | |
22 | g.50623918A>C | CA2410957696 | ARSA | c.*1227T>G (n.*1227T>G) c.181-23T>G | dbSNP |
22 | g.50623923_50623944del | CA1026678779 | ARSA | c.*1206_*1227del (n.*1206_*1227del) c.181-44_181-23del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623919A= | CA2410957697 | ARSA | c.*1226T= (n.*1226T=) c.181-24T= | |
22 | g.50623919A>C | CA2410957698 | ARSA | c.*1226T>G (n.*1226T>G) c.181-24T>G | dbSNP |
22 | g.50623919_50623920insCA | CA640051264 | ARSA | c.*1226_*1227insGT (n.*1226_*1227insGT) c.181-24_181-23insGT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623919_50623939delinsAAAAAAAAAAAAAAAAAAAAC | CA2410957699 | ARSA | c.*1206_*1226delinsGTTTTTTTTTTTTTTTTTTTT (n.*1206_*1226delinsGTTTTTTTTTTTTTTTTTTTT) c.181-44_181-24delinsGTTTTTTTTTTTTTTTTTTTT | |
22 | g.50623922_50623948del | CA2819315514 | ARSA | c.*1200_*1226del (n.*1200_*1226del) c.181-50_181-24del | |
22 | g.50623919_50623920insC | CA2738234042 | ARSA | c.*1225_*1226insG (n.*1225_*1226insG) c.181-25_181-24insG | dbSNP |
22 | g.50623920A= | CA2410957701 | ARSA | c.*1225T= (n.*1225T=) c.181-25T= | |
22 | g.50623920A>C | CA754066331 | ARSA | c.*1225T>G (n.*1225T>G) c.181-25T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623925_50623944del | CA2410957700 | ARSA | c.*1206_*1225del (n.*1206_*1225del) c.181-44_181-25del | dbSNP |
22 | g.50623921A= | CA2410957702 | ARSA | c.*1224T= (n.*1224T=) c.181-26T= | |
22 | g.50623921A>C | CA640051266 | ARSA | c.*1224T>G (n.*1224T>G) c.181-26T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623921A>G | CA2410957703 | ARSA | c.*1224T>C (n.*1224T>C) c.181-26T>C | dbSNP |
22 | g.50623921_50623939delinsAAAAAAAAAAAAAAAAAAC | CA2410957704 | ARSA | c.*1206_*1224delinsGTTTTTTTTTTTTTTTTTT (n.*1206_*1224delinsGTTTTTTTTTTTTTTTTTT) c.181-44_181-26delinsGTTTTTTTTTTTTTTTTTT | |
22 | g.50623922A= | CA2410957705 | ARSA | c.*1223T= (n.*1223T=) c.181-27T= | |
22 | g.50623922A>C | CA325530811 | ARSA | c.*1223T>G (n.*1223T>G) c.181-27T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623922_50623939delinsAAAAAAAAAAAAAAAAAC | CA2410957706 | ARSA | c.*1206_*1223delinsGTTTTTTTTTTTTTTTTT (n.*1206_*1223delinsGTTTTTTTTTTTTTTTTT) c.181-44_181-27delinsGTTTTTTTTTTTTTTTTT | |
22 | g.50623927_50623944del | CA1026678784 | ARSA | c.*1206_*1223del (n.*1206_*1223del) c.181-44_181-27del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623922_50623923insC | CA2410957709 | ARSA | c.*1222_*1223insG (n.*1222_*1223insG) c.181-28_181-27insG | dbSNP |
22 | g.50623923A= | CA2410957707 | ARSA | c.*1222T= (n.*1222T=) c.181-28T= | |
22 | g.50623923A>C | CA754066341 | ARSA | c.*1222T>G (n.*1222T>G) c.181-28T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623928_50623944del | CA2410957708 | ARSA | c.*1206_*1222del (n.*1206_*1222del) c.181-44_181-28del | dbSNP |
22 | g.50623923_50623924insCAAC | CA640051268 | ARSA | c.*1221_*1222insGTTG (n.*1221_*1222insGTTG) c.181-29_181-28insGTTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623924A= | CA2410957710 | ARSA | c.*1221T= (n.*1221T=) c.181-29T= | |
22 | g.50623924A>C | CA640051270 | ARSA | c.*1221T>G (n.*1221T>G) c.181-29T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623924_50623925insC | CA1026678791 | ARSA | c.*1220_*1221insG (n.*1220_*1221insG) c.181-30_181-29insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623925A= | CA2410957711 | ARSA | c.*1220T= (n.*1220T=) c.181-30T= | |
22 | g.50623925A>C | CA640051271 | ARSA | c.*1220T>G (n.*1220T>G) c.181-30T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623925_50623939delinsAAAAAAAAAAAAAAC | CA2410957712 | ARSA | c.*1206_*1220delinsGTTTTTTTTTTTTTT (n.*1206_*1220delinsGTTTTTTTTTTTTTT) c.181-44_181-30delinsGTTTTTTTTTTTTTT | |
22 | g.50623930_50623944dup | CA1026678789 | ARSA | c.*1206_*1220dup (n.*1206_*1220dup) c.181-44_181-30dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623925_50623926insC | CA2410957715 | ARSA | c.*1219_*1220insG (n.*1219_*1220insG) c.181-31_181-30insG | dbSNP |
22 | g.50623926A= | CA2410957713 | ARSA | c.*1219T= (n.*1219T=) c.181-31T= | |
22 | g.50623926A>C | CA640051273 | ARSA | c.*1219T>G (n.*1219T>G) c.181-31T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623931_50623944del | CA2410957714 | ARSA | c.*1206_*1219del (n.*1206_*1219del) c.181-44_181-31del | dbSNP |
22 | g.50623926_50623927insC | CA1026678806 | ARSA | c.*1218_*1219insG (n.*1218_*1219insG) c.181-32_181-31insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623927A= | CA2410957716 | ARSA | c.*1218T= (n.*1218T=) c.181-32T= | |
22 | g.50623927A>C | CA754066360 | ARSA | c.*1218T>G (n.*1218T>G) c.181-32T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623931_50623932insCAAAAA | CA1026678795 | ARSA | c.*1218_*1219insGTTTTT (n.*1218_*1219insGTTTTT) c.181-32_181-31insGTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623932_50623944del | CA1026678801 | ARSA | c.*1206_*1218del (n.*1206_*1218del) c.181-44_181-32del | gnomAD v3 gnomAD v4 |
22 | g.50623928A= | CA2410957717 | ARSA | c.*1217T= (n.*1217T=) c.181-33T= | |
22 | g.50623928A>C | CA640051276 | ARSA | c.*1217T>G (n.*1217T>G) c.181-33T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623932_50623933insCAAAAA | CA2738226443 | ARSA | c.*1217_*1218insGTTTTT (n.*1217_*1218insGTTTTT) c.181-33_181-32insGTTTTT | dbSNP |
22 | g.50623933_50623944del | CA2738225865 | ARSA | c.*1206_*1217del (n.*1206_*1217del) c.181-44_181-33del | dbSNP |
22 | g.50623931_50623948del | CA1026678809 | ARSA | c.*1200_*1217del (n.*1200_*1217del) c.181-50_181-33del | gnomAD v3 gnomAD v4 |
22 | g.50623928_50623929insC | CA920392296 | ARSA | c.*1216_*1217insG (n.*1216_*1217insG) c.181-34_181-33insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623929A= | CA2410957718 | ARSA | c.*1216T= (n.*1216T=) c.181-34T= | |
22 | g.50623929A>C | CA640051278 | ARSA | c.*1216T>G (n.*1216T>G) c.181-34T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623929A>T | CA325530813 | ARSA | c.*1216T>A (n.*1216T>A) c.181-34T>A | dbSNP |
22 | g.50623934_50623944del | CA1026678813 | ARSA | c.*1206_*1216del (n.*1206_*1216del) c.181-44_181-34del | gnomAD v3 gnomAD v4 |
22 | g.50623930A= | CA2410957719 | ARSA | c.*1215T= (n.*1215T=) c.181-35T= | |
22 | g.50623930A>C | CA325530814 | ARSA | c.*1215T>G (n.*1215T>G) c.181-35T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623930A>G | CA640051280 | ARSA | c.*1215T>C (n.*1215T>C) c.181-35T>C | dbSNP gnomAD v2 |
22 | g.50623930A>T | CA2564277320 | ARSA | c.*1215T>A (n.*1215T>A) c.181-35T>A | |
22 | g.50623934_50623935insCAAAAA | CA2819315528 | ARSA | c.*1215_*1216insGTTTTT (n.*1215_*1216insGTTTTT) c.181-35_181-34insGTTTTT | |
22 | g.50623931A= | CA2410957720 | ARSA | c.*1214T= (n.*1214T=) c.181-36T= | |
22 | g.50623931A>C | CA515248751 | ARSA | c.*1214T>G (n.*1214T>G) c.181-36T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623932A= | CA2410957721 | ARSA | c.*1213T= (n.*1213T=) c.181-37T= | |
22 | g.50623932A>C | CA10654218 | ARSA | c.*1213T>G (n.*1213T>G) c.181-37T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623932_50623933insCA | CA1026678822 | ARSA | c.*1213_*1214insGT (n.*1213_*1214insGT) c.181-37_181-36insGT | gnomAD v3 gnomAD v4 |
22 | g.50623937_50623944dup | CA1026678821 | ARSA | c.*1206_*1213dup (n.*1206_*1213dup) c.181-44_181-37dup | gnomAD v3 gnomAD v4 |
22 | g.50623937_50623944del | CA2819315530 | ARSA | c.*1206_*1213del (n.*1206_*1213del) c.181-44_181-37del | |
22 | g.50623932_50623933insC | CA1026678835 | ARSA | c.*1212_*1213insG (n.*1212_*1213insG) c.181-38_181-37insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623933A= | CA2410957722 | ARSA | c.*1212T= (n.*1212T=) c.181-38T= | |
22 | g.50623933A>C | CA10651549 | ARSA | c.*1212T>G (n.*1212T>G) c.181-38T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAACAAAAAA | CA1026678839 | ARSA | c.*1212_*1213insGTTTTTTTTTT (n.*1212_*1213insGTTTTTTTTTT) c.181-38_181-37insGTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAACAAAAAA | CA1026678843 | ARSA | c.*1212_*1213insGTTTTTTTTTTTTT (n.*1212_*1213insGTTTTTTTTTTTTT) c.181-38_181-37insGTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623944dup | CA640051281 | ARSA | c.*1206_*1212dup (n.*1206_*1212dup) c.181-44_181-38dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623933_50623934insC | CA1026678877 | ARSA | c.*1211_*1212insG (n.*1211_*1212insG) c.181-39_181-38insG | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623934A= | CA2410957724 | ARSA | c.*1211T= (n.*1211T=) c.181-39T= | |
22 | g.50623934A>C | CA325530826 | ARSA | c.*1211T>G (n.*1211T>G) c.181-39T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623934A>G | CA2410957723 | ARSA | c.*1211T>C (n.*1211T>C) c.181-39T>C | dbSNP gnomAD v4 |
22 | g.50623935_50623936insCAA | CA2529347164 | ARSA | c.*1211_*1212insGTT (n.*1211_*1212insGTT) c.181-39_181-38insGTT | |
22 | g.50623936_50623937insCAAA | CA2819315537 | ARSA | c.*1211_*1212insGTTT (n.*1211_*1212insGTTT) c.181-39_181-38insGTTT | |
22 | g.50623937_50623938insCAAAA | CA1026678859 | ARSA | c.*1211_*1212insGTTTT (n.*1211_*1212insGTTTT) c.181-39_181-38insGTTTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623937_50623938insCAAAAACAAAA | CA1026678862 | ARSA | c.*1211_*1212insGTTTTTGTTTT (n.*1211_*1212insGTTTTTGTTTT) c.181-39_181-38insGTTTTTGTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insACAAAAA | CA1026678857 | ARSA | c.*1211_*1212insGTTTTTT (n.*1211_*1212insGTTTTTT) c.181-39_181-38insGTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAACAAAAA | CA2592021831 | ARSA | c.*1211_*1212insGTTTTTTT (n.*1211_*1212insGTTTTTTT) c.181-39_181-38insGTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAACAAAAA | CA1026678855 | ARSA | c.*1211_*1212insGTTTTTTTT (n.*1211_*1212insGTTTTTTTT) c.181-39_181-38insGTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAACAAAAA | CA1026678851 | ARSA | c.*1211_*1212insGTTTTTTTTT (n.*1211_*1212insGTTTTTTTTT) c.181-39_181-38insGTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAACAAAAA | CA1026678849 | ARSA | c.*1211_*1212insGTTTTTTTTTT (n.*1211_*1212insGTTTTTTTTTT) c.181-39_181-38insGTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAACAAAAA | CA1026678847 | ARSA | c.*1211_*1212insGTTTTTTTTTTT (n.*1211_*1212insGTTTTTTTTTTT) c.181-39_181-38insGTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAACAAAAA | CA1026678882 | ARSA | c.*1211_*1212insGTTTTTTTTTTTT (n.*1211_*1212insGTTTTTTTTTTTT) c.181-39_181-38insGTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAAACAAAAA | CA1026678878 | ARSA | c.*1211_*1212insGTTTTTTTTTTTTT (n.*1211_*1212insGTTTTTTTTTTTTT) c.181-39_181-38insGTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623943_50623948dup | CA640051284 | ARSA | c.*1206_*1211dup (n.*1206_*1211dup) c.181-44_181-39dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623937_50623948dup | CA640051285 | ARSA | c.*1200_*1211dup (n.*1200_*1211dup) c.181-50_181-39dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623935A= | CA2410957725 | ARSA | c.*1210T= (n.*1210T=) c.181-40T= | |
22 | g.50623935A>C | CA754066401 | ARSA | c.*1210T>G (n.*1210T>G) c.181-40T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623935A>G | CA2819315539 | ARSA | c.*1210T>C (n.*1210T>C) c.181-40T>C | |
22 | g.50623935A>T | CA2657589631 | ARSA | c.*1210T>A (n.*1210T>A) c.181-40T>A | gnomAD v4 |
22 | g.50623939_50623943dup | CA1026678891 | ARSA | c.*1206_*1210dup (n.*1206_*1210dup) c.181-44_181-40dup | gnomAD v3 gnomAD v4 |
22 | g.50623939_50623943del | CA2657589629 | ARSA | c.*1206_*1210del (n.*1206_*1210del) c.181-44_181-40del | gnomAD v4 |
22 | g.50623935_50623936insC | CA920392299 | ARSA | c.*1209_*1210insG (n.*1209_*1210insG) c.181-41_181-40insG | dbSNP |
22 | g.50623936A= | CA2410957726 | ARSA | c.*1209T= (n.*1209T=) c.181-41T= | |
22 | g.50623936A>C | CA325530830 | ARSA | c.*1209T>G (n.*1209T>G) c.181-41T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623936A>T | CA2657589637 | ARSA | c.*1209T>A (n.*1209T>A) c.181-41T>A | gnomAD v4 |
22 | g.50623936_50623937insCA | CA1026678893 | ARSA | c.*1209_*1210insGT (n.*1209_*1210insGT) c.181-41_181-40insGT | gnomAD v3 gnomAD v4 |
22 | g.50623939_50623942del | CA2819315543 | ARSA | c.*1206_*1209del (n.*1206_*1209del) c.181-44_181-41del | |
22 | g.50623937A= | CA2410957727 | ARSA | c.*1208T= (n.*1208T=) c.181-42T= | |
22 | g.50623937A>C | CA754066406 | ARSA | c.*1208T>G (n.*1208T>G) c.181-42T>G | dbSNP gnomAD v4 |
22 | g.50623938_50623939insAAAAAAAAAACAA | CA2592021832 | ARSA | c.*1208_*1209insGTTTTTTTTTTTT (n.*1208_*1209insGTTTTTTTTTTTT) c.181-42_181-41insGTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623939_50623941del | CA2657589643 | ARSA | c.*1206_*1208del (n.*1206_*1208del) c.181-44_181-42del | gnomAD v4 |
22 | g.50623938A= | CA2410957728 | ARSA | c.*1207T= (n.*1207T=) c.181-43T= | |
22 | g.50623938A>C | CA325530842 | ARSA | c.*1207T>G (n.*1207T>G) c.181-43T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623938A>G | CA2657589661 | ARSA | c.*1207T>C (n.*1207T>C) c.181-43T>C | gnomAD v4 |
22 | g.50623938A>T | CA2657589659 | ARSA | c.*1207T>A (n.*1207T>A) c.181-43T>A | gnomAD v4 |
22 | g.50623938_50623939insAAACA | CA1026678909 | ARSA | c.*1207_*1208insGTTTT (n.*1207_*1208insGTTTT) c.181-43_181-42insGTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAACA | CA1026678904 | ARSA | c.*1207_*1208insGTTTTT (n.*1207_*1208insGTTTTT) c.181-43_181-42insGTTTTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAACA | CA1026678899 | ARSA | c.*1207_*1208insGTTTTTT (n.*1207_*1208insGTTTTTT) c.181-43_181-42insGTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAACA | CA1026678898 | ARSA | c.*1207_*1208insGTTTTTTTT (n.*1207_*1208insGTTTTTTTT) c.181-43_181-42insGTTTTTTTT | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939delinsAC | CA2410957729 | ARSA | c.*1206_*1207delinsGT (n.*1206_*1207delinsGT) c.181-44_181-43delinsGT | |
22 | g.50623939_50623940del | CA1026678910 | ARSA | c.*1206_*1207del (n.*1206_*1207del) c.181-44_181-43del | gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAAC | CA1026678922 | ARSA | c.*1206_*1207insGTTTTTTT (n.*1206_*1207insGTTTTTTT) c.181-44_181-43insGTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623938_50623939insAAAAAAAAAAC | CA2520999983 | ARSA | c.*1206_*1207insGTTTTTTTTTT (n.*1206_*1207insGTTTTTTTTTT) c.181-44_181-43insGTTTTTTTTTT | |
22 | g.50623939del | CA1026678948 | ARSA | c.*1206del (n.*1206del) c.181-44del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623939C>A | CA10653677 | ARSA | c.*1206G>T (n.*1206G>T) c.181-44G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623939C= | CA2410957730 | ARSA | c.*1206G= (n.*1206G=) c.181-44G= | |
22 | g.50623939C>T | CA2410957731 | ARSA | c.*1206G>A (n.*1206G>A) c.181-44G>A | dbSNP |
22 | g.50623939dup | CA920392300 | ARSA | c.*1206dup (n.*1206dup) c.181-44dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623939_50623941delinsCAA | CA2410957732 | ARSA | c.*1204_*1206delinsTTG (n.*1204_*1206delinsTTG) c.181-46_181-44delinsTTG | |
22 | g.50623940A>G | CA2657589679 | ARSA | c.*1205T>C (n.*1205T>C) c.181-45T>C | gnomAD v4 |
22 | g.50623944_50623945insAAAAAA | CA1026678958 | ARSA | c.*1205_*1206insTTTTTT (n.*1205_*1206insTTTTTT) c.181-45_181-44insTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623941_50623944dup | CA1026678953 | ARSA | c.*1202_*1205dup (n.*1202_*1205dup) c.181-48_181-45dup | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50623943_50623944del | CA2410957733 | ARSA | c.*1204_*1205del (n.*1204_*1205del) c.181-46_181-45del | dbSNP |
22 | g.50623941A= | CA2410957734 | ARSA | c.*1204T= (n.*1204T=) c.181-46T= | |
22 | g.50623941A>C | CA2657589685 | ARSA | c.*1204T>G (n.*1204T>G) c.181-46T>G | gnomAD v4 |
22 | g.50623941A>G | CA2410957735 | ARSA | c.*1204T>C (n.*1204T>C) c.181-46T>C | dbSNP |
22 | g.50623941_50623942insC | CA1026678959 | ARSA | c.*1203_*1204insG (n.*1203_*1204insG) c.181-47_181-46insG | gnomAD v3 gnomAD v4 |
22 | g.50623942A= | CA2410957737 | ARSA | c.*1203T= (n.*1203T=) c.181-47T= | |
22 | g.50623942A>C | CA2410957736 | ARSA | c.*1203T>G (n.*1203T>G) c.181-47T>G | dbSNP |
22 | g.50623942A>G | CA2657589690 | ARSA | c.*1203T>C (n.*1203T>C) c.181-47T>C | gnomAD v4 |
22 | g.50623942_50623943insCA | CA2524552167 | ARSA | c.*1203_*1204insGT (n.*1203_*1204insGT) c.181-47_181-46insGT | |
22 | g.50623945_50623948del | CA2565485265 | ARSA | c.*1200_*1203del (n.*1200_*1203del) c.181-50_181-47del | |
22 | g.50623943A>C | CA2657589693 | ARSA | c.*1202T>G (n.*1202T>G) c.181-48T>G | gnomAD v4 |
22 | g.50623943A>G | CA2657589694 | ARSA | c.*1202T>C (n.*1202T>C) c.181-48T>C | gnomAD v4 |
22 | g.50623944A>C | CA2657589698 | ARSA | c.*1201T>G (n.*1201T>G) c.181-49T>G | gnomAD v4 |
22 | g.50623945del | CA2607804418 | ARSA | c.*1200del (n.*1200del) c.181-50del | gnomAD v4 |
22 | g.50623945C>A | CA640051287 | ARSA | c.*1200G>T (n.*1200G>T) c.181-50G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50623945C= | CA2410957738 | ARSA | c.*1200G= (n.*1200G=) c.181-50G= | |
22 | g.50623946A>C | CA2657589705 | ARSA | c.*1199T>G (n.*1199T>G) c.181-51T>G | gnomAD v4 |
22 | g.50623946A>G | CA2819315564 | ARSA | c.*1199T>C (n.*1199T>C) c.181-51T>C | |
22 | g.50623947A= | CA2410957739 | ARSA | c.*1198T= (n.*1198T=) c.181-52T= | |
22 | g.50623947A>C | CA1026678961 | ARSA | c.*1198T>G (n.*1198T>G) c.181-52T>G | gnomAD v3 gnomAD v4 |
22 | g.50623947A>G | CA754066421 | ARSA | c.*1198T>C (n.*1198T>C) c.181-52T>C | dbSNP gnomAD v3 gnomAD v4 |