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 |
|---|---|---|---|---|---|
| 6 | g.157189689A>C | CA366234091 | ARID1B | c.3808A>C (p.Ser1270Arg) c.3877A>C (p.Ser1293Arg) c.4096A>C (p.Ser1366Arg) c.3847A>C (p.Ser1283Arg) c.3559A>C (p.Ser1187Arg) c.2125A>C (p.Ser709Arg) c.1288A>C (p.Ser430Arg) c.922A>C (p.Ser308Arg) c.3967A>C (p.Ser1323Arg) n.1964A>C c.1335A>C c.1249A>C n.633A>C c.1309A>C (p.Ser437Arg) c.1468A>C (p.Ser490Arg) c.3598A>C (p.Ser1200Arg) c.3718A>C (p.Ser1240Arg) c.2797A>C (p.Ser933Arg) c.2617A>C (p.Ser873Arg) c.2377A>C (p.Ser793Arg) c.1996A>C (p.Ser666Arg) c.859A>C (p.Ser287Arg) c.3928A>C (p.Ser1310Arg) c.3829A>C (p.Ser1277Arg) c.3799A>C (p.Ser1267Arg) c.3769A>C (p.Ser1257Arg) c.3640A>C (p.Ser1214Arg) c.3619A>C (p.Ser1207Arg) n.4011A>C | gnomAD v4 |
| 6 | g.157189689A>G | CA366234090 | ARID1B | c.3808A>G (p.Ser1270Gly) c.3877A>G (p.Ser1293Gly) c.4096A>G (p.Ser1366Gly) c.3847A>G (p.Ser1283Gly) c.3559A>G (p.Ser1187Gly) c.2125A>G (p.Ser709Gly) c.1288A>G (p.Ser430Gly) c.922A>G (p.Ser308Gly) c.3967A>G (p.Ser1323Gly) n.1964A>G c.1335A>G c.1249A>G n.633A>G c.1309A>G (p.Ser437Gly) c.1468A>G (p.Ser490Gly) c.3598A>G (p.Ser1200Gly) c.3718A>G (p.Ser1240Gly) c.2797A>G (p.Ser933Gly) c.2617A>G (p.Ser873Gly) c.2377A>G (p.Ser793Gly) c.1996A>G (p.Ser666Gly) c.859A>G (p.Ser287Gly) c.3928A>G (p.Ser1310Gly) c.3829A>G (p.Ser1277Gly) c.3799A>G (p.Ser1267Gly) c.3769A>G (p.Ser1257Gly) c.3640A>G (p.Ser1214Gly) c.3619A>G (p.Ser1207Gly) n.4011A>G | gnomAD v4 |
| 6 | g.157189689A>T | CA366234089 | ARID1B | c.3808A>T (p.Ser1270Cys) c.3877A>T (p.Ser1293Cys) c.4096A>T (p.Ser1366Cys) c.3847A>T (p.Ser1283Cys) c.3559A>T (p.Ser1187Cys) c.2125A>T (p.Ser709Cys) c.1288A>T (p.Ser430Cys) c.922A>T (p.Ser308Cys) c.3967A>T (p.Ser1323Cys) n.1964A>T c.1335A>T c.1249A>T n.633A>T c.1309A>T (p.Ser437Cys) c.1468A>T (p.Ser490Cys) c.3598A>T (p.Ser1200Cys) c.3718A>T (p.Ser1240Cys) c.2797A>T (p.Ser933Cys) c.2617A>T (p.Ser873Cys) c.2377A>T (p.Ser793Cys) c.1996A>T (p.Ser666Cys) c.859A>T (p.Ser287Cys) c.3928A>T (p.Ser1310Cys) c.3829A>T (p.Ser1277Cys) c.3799A>T (p.Ser1267Cys) c.3769A>T (p.Ser1257Cys) c.3640A>T (p.Ser1214Cys) c.3619A>T (p.Ser1207Cys) n.4011A>T | dbSNP |
| 6 | g.157189690G>A | CA4067486 | ARID1B | c.3809G>A (p.Ser1270Asn) c.3878G>A (p.Ser1293Asn) c.4097G>A (p.Ser1366Asn) c.3848G>A (p.Ser1283Asn) c.3560G>A (p.Ser1187Asn) c.2126G>A (p.Ser709Asn) c.1289G>A (p.Ser430Asn) c.923G>A (p.Ser308Asn) c.3968G>A (p.Ser1323Asn) n.1965G>A c.1336G>A c.1250G>A n.634G>A c.1310G>A (p.Ser437Asn) c.1469G>A (p.Ser490Asn) c.3599G>A (p.Ser1200Asn) c.3719G>A (p.Ser1240Asn) c.2798G>A (p.Ser933Asn) c.2618G>A (p.Ser873Asn) c.2378G>A (p.Ser793Asn) c.1997G>A (p.Ser666Asn) c.860G>A (p.Ser287Asn) c.3929G>A (p.Ser1310Asn) c.3830G>A (p.Ser1277Asn) c.3800G>A (p.Ser1267Asn) c.3770G>A (p.Ser1257Asn) c.3641G>A (p.Ser1214Asn) c.3620G>A (p.Ser1207Asn) n.4012G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.157189690G>C | CA366234092 | ARID1B | c.3809G>C (p.Ser1270Thr) c.3878G>C (p.Ser1293Thr) c.4097G>C (p.Ser1366Thr) c.3848G>C (p.Ser1283Thr) c.3560G>C (p.Ser1187Thr) c.2126G>C (p.Ser709Thr) c.1289G>C (p.Ser430Thr) c.923G>C (p.Ser308Thr) c.3968G>C (p.Ser1323Thr) n.1965G>C c.1336G>C c.1250G>C n.634G>C c.1310G>C (p.Ser437Thr) c.1469G>C (p.Ser490Thr) c.3599G>C (p.Ser1200Thr) c.3719G>C (p.Ser1240Thr) c.2798G>C (p.Ser933Thr) c.2618G>C (p.Ser873Thr) c.2378G>C (p.Ser793Thr) c.1997G>C (p.Ser666Thr) c.860G>C (p.Ser287Thr) c.3929G>C (p.Ser1310Thr) c.3830G>C (p.Ser1277Thr) c.3800G>C (p.Ser1267Thr) c.3770G>C (p.Ser1257Thr) c.3641G>C (p.Ser1214Thr) c.3620G>C (p.Ser1207Thr) n.4012G>C | |
| 6 | g.157189690G= | CA1675538244 | ARID1B | c.3809G= (p.Ser1270=) c.3878G= (p.Ser1293=) c.4097G= (p.Ser1366=) c.3848G= (p.Ser1283=) c.3560G= (p.Ser1187=) c.2126G= (p.Ser709=) c.1289G= (p.Ser430=) c.923G= (p.Ser308=) c.3968G= (p.Ser1323=) n.1965G= c.1336G= c.1250G= n.634G= c.1310G= (p.Ser437=) c.1469G= (p.Ser490=) c.3599G= (p.Ser1200=) c.3719G= (p.Ser1240=) c.2798G= (p.Ser933=) c.2618G= (p.Ser873=) c.2378G= (p.Ser793=) c.1997G= (p.Ser666=) c.860G= (p.Ser287=) c.3929G= (p.Ser1310=) c.3830G= (p.Ser1277=) c.3800G= (p.Ser1267=) c.3770G= (p.Ser1257=) c.3641G= (p.Ser1214=) c.3620G= (p.Ser1207=) n.4012G= | |
| 6 | g.157189690G>T | CA366234093 | ARID1B | c.3809G>T (p.Ser1270Ile) c.3878G>T (p.Ser1293Ile) c.4097G>T (p.Ser1366Ile) c.3848G>T (p.Ser1283Ile) c.3560G>T (p.Ser1187Ile) c.2126G>T (p.Ser709Ile) c.1289G>T (p.Ser430Ile) c.923G>T (p.Ser308Ile) c.3968G>T (p.Ser1323Ile) n.1965G>T c.1336G>T c.1250G>T n.634G>T c.1310G>T (p.Ser437Ile) c.1469G>T (p.Ser490Ile) c.3599G>T (p.Ser1200Ile) c.3719G>T (p.Ser1240Ile) c.2798G>T (p.Ser933Ile) c.2618G>T (p.Ser873Ile) c.2378G>T (p.Ser793Ile) c.1997G>T (p.Ser666Ile) c.860G>T (p.Ser287Ile) c.3929G>T (p.Ser1310Ile) c.3830G>T (p.Ser1277Ile) c.3800G>T (p.Ser1267Ile) c.3770G>T (p.Ser1257Ile) c.3641G>T (p.Ser1214Ile) c.3620G>T (p.Ser1207Ile) n.4012G>T | |
| 6 | g.157189691C>A | CA366234094 | ARID1B | c.3810C>A (p.Ser1270Arg) c.3879C>A (p.Ser1293Arg) c.4098C>A (p.Ser1366Arg) c.3849C>A (p.Ser1283Arg) c.3561C>A (p.Ser1187Arg) c.2127C>A (p.Ser709Arg) c.1290C>A (p.Ser430Arg) c.924C>A (p.Ser308Arg) c.3969C>A (p.Ser1323Arg) n.1966C>A c.1337C>A c.1251C>A n.635C>A c.1311C>A (p.Ser437Arg) c.1470C>A (p.Ser490Arg) c.3600C>A (p.Ser1200Arg) c.3720C>A (p.Ser1240Arg) c.2799C>A (p.Ser933Arg) c.2619C>A (p.Ser873Arg) c.2379C>A (p.Ser793Arg) c.1998C>A (p.Ser666Arg) c.861C>A (p.Ser287Arg) c.3930C>A (p.Ser1310Arg) c.3831C>A (p.Ser1277Arg) c.3801C>A (p.Ser1267Arg) c.3771C>A (p.Ser1257Arg) c.3642C>A (p.Ser1214Arg) c.3621C>A (p.Ser1207Arg) n.4013C>A | |
| 6 | g.157189691C>G | CA366234095 | ARID1B | c.3810C>G (p.Ser1270Arg) c.3879C>G (p.Ser1293Arg) c.4098C>G (p.Ser1366Arg) c.3849C>G (p.Ser1283Arg) c.3561C>G (p.Ser1187Arg) c.2127C>G (p.Ser709Arg) c.1290C>G (p.Ser430Arg) c.924C>G (p.Ser308Arg) c.3969C>G (p.Ser1323Arg) n.1966C>G c.1337C>G c.1251C>G n.635C>G c.1311C>G (p.Ser437Arg) c.1470C>G (p.Ser490Arg) c.3600C>G (p.Ser1200Arg) c.3720C>G (p.Ser1240Arg) c.2799C>G (p.Ser933Arg) c.2619C>G (p.Ser873Arg) c.2379C>G (p.Ser793Arg) c.1998C>G (p.Ser666Arg) c.861C>G (p.Ser287Arg) c.3930C>G (p.Ser1310Arg) c.3831C>G (p.Ser1277Arg) c.3801C>G (p.Ser1267Arg) c.3771C>G (p.Ser1257Arg) c.3642C>G (p.Ser1214Arg) c.3621C>G (p.Ser1207Arg) n.4013C>G | |
| 6 | g.157189691C>T | CA452781519 | ARID1B | c.3810C>T (p.Ser1270=) c.3879C>T (p.Ser1293=) c.4098C>T (p.Ser1366=) c.3849C>T (p.Ser1283=) c.3561C>T (p.Ser1187=) c.2127C>T (p.Ser709=) c.1290C>T (p.Ser430=) c.924C>T (p.Ser308=) c.3969C>T (p.Ser1323=) n.1966C>T c.1337C>T c.1251C>T n.635C>T c.1311C>T (p.Ser437=) c.1470C>T (p.Ser490=) c.3600C>T (p.Ser1200=) c.3720C>T (p.Ser1240=) c.2799C>T (p.Ser933=) c.2619C>T (p.Ser873=) c.2379C>T (p.Ser793=) c.1998C>T (p.Ser666=) c.861C>T (p.Ser287=) c.3930C>T (p.Ser1310=) c.3831C>T (p.Ser1277=) c.3801C>T (p.Ser1267=) c.3771C>T (p.Ser1257=) c.3642C>T (p.Ser1214=) c.3621C>T (p.Ser1207=) n.4013C>T | dbSNP gnomAD v4 |
| 6 | g.157189692A>C | CA366234096 | ARID1B | c.3811A>C (p.Asn1271His) c.3880A>C (p.Asn1294His) c.4099A>C (p.Asn1367His) c.3850A>C (p.Asn1284His) c.3562A>C (p.Asn1188His) c.2128A>C (p.Asn710His) c.1291A>C (p.Asn431His) c.925A>C (p.Asn309His) c.3970A>C (p.Asn1324His) n.1967A>C c.1338A>C c.1252A>C n.636A>C c.1312A>C (p.Asn438His) c.1471A>C (p.Asn491His) c.3601A>C (p.Asn1201His) c.3721A>C (p.Asn1241His) c.2800A>C (p.Asn934His) c.2620A>C (p.Asn874His) c.2380A>C (p.Asn794His) c.1999A>C (p.Asn667His) c.862A>C (p.Asn288His) c.3931A>C (p.Asn1311His) c.3832A>C (p.Asn1278His) c.3802A>C (p.Asn1268His) c.3772A>C (p.Asn1258His) c.3643A>C (p.Asn1215His) c.3622A>C (p.Asn1208His) n.4014A>C | |
| 6 | g.157189692A>G | CA366234097 | ARID1B | c.3811A>G (p.Asn1271Asp) c.3880A>G (p.Asn1294Asp) c.4099A>G (p.Asn1367Asp) c.3850A>G (p.Asn1284Asp) c.3562A>G (p.Asn1188Asp) c.2128A>G (p.Asn710Asp) c.1291A>G (p.Asn431Asp) c.925A>G (p.Asn309Asp) c.3970A>G (p.Asn1324Asp) n.1967A>G c.1338A>G c.1252A>G n.636A>G c.1312A>G (p.Asn438Asp) c.1471A>G (p.Asn491Asp) c.3601A>G (p.Asn1201Asp) c.3721A>G (p.Asn1241Asp) c.2800A>G (p.Asn934Asp) c.2620A>G (p.Asn874Asp) c.2380A>G (p.Asn794Asp) c.1999A>G (p.Asn667Asp) c.862A>G (p.Asn288Asp) c.3931A>G (p.Asn1311Asp) c.3832A>G (p.Asn1278Asp) c.3802A>G (p.Asn1268Asp) c.3772A>G (p.Asn1258Asp) c.3643A>G (p.Asn1215Asp) c.3622A>G (p.Asn1208Asp) n.4014A>G | |
| 6 | g.157189692A>T | CA366234098 | ARID1B | c.3811A>T (p.Asn1271Tyr) c.3880A>T (p.Asn1294Tyr) c.4099A>T (p.Asn1367Tyr) c.3850A>T (p.Asn1284Tyr) c.3562A>T (p.Asn1188Tyr) c.2128A>T (p.Asn710Tyr) c.1291A>T (p.Asn431Tyr) c.925A>T (p.Asn309Tyr) c.3970A>T (p.Asn1324Tyr) n.1967A>T c.1338A>T c.1252A>T n.636A>T c.1312A>T (p.Asn438Tyr) c.1471A>T (p.Asn491Tyr) c.3601A>T (p.Asn1201Tyr) c.3721A>T (p.Asn1241Tyr) c.2800A>T (p.Asn934Tyr) c.2620A>T (p.Asn874Tyr) c.2380A>T (p.Asn794Tyr) c.1999A>T (p.Asn667Tyr) c.862A>T (p.Asn288Tyr) c.3931A>T (p.Asn1311Tyr) c.3832A>T (p.Asn1278Tyr) c.3802A>T (p.Asn1268Tyr) c.3772A>T (p.Asn1258Tyr) c.3643A>T (p.Asn1215Tyr) c.3622A>T (p.Asn1208Tyr) n.4014A>T | |
| 6 | g.157189693A>C | CA366234099 | ARID1B | c.3812A>C (p.Asn1271Thr) c.3881A>C (p.Asn1294Thr) c.4100A>C (p.Asn1367Thr) c.3851A>C (p.Asn1284Thr) c.3563A>C (p.Asn1188Thr) c.2129A>C (p.Asn710Thr) c.1292A>C (p.Asn431Thr) c.926A>C (p.Asn309Thr) c.3971A>C (p.Asn1324Thr) n.1968A>C c.1339A>C c.1253A>C n.637A>C c.1313A>C (p.Asn438Thr) c.1472A>C (p.Asn491Thr) c.3602A>C (p.Asn1201Thr) c.3722A>C (p.Asn1241Thr) c.2801A>C (p.Asn934Thr) c.2621A>C (p.Asn874Thr) c.2381A>C (p.Asn794Thr) c.2000A>C (p.Asn667Thr) c.863A>C (p.Asn288Thr) c.3932A>C (p.Asn1311Thr) c.3833A>C (p.Asn1278Thr) c.3803A>C (p.Asn1268Thr) c.3773A>C (p.Asn1258Thr) c.3644A>C (p.Asn1215Thr) c.3623A>C (p.Asn1208Thr) n.4015A>C | |
| 6 | g.157189693A>G | CA366234100 | ARID1B | c.3812A>G (p.Asn1271Ser) c.3881A>G (p.Asn1294Ser) c.4100A>G (p.Asn1367Ser) c.3851A>G (p.Asn1284Ser) c.3563A>G (p.Asn1188Ser) c.2129A>G (p.Asn710Ser) c.1292A>G (p.Asn431Ser) c.926A>G (p.Asn309Ser) c.3971A>G (p.Asn1324Ser) n.1968A>G c.1339A>G c.1253A>G n.637A>G c.1313A>G (p.Asn438Ser) c.1472A>G (p.Asn491Ser) c.3602A>G (p.Asn1201Ser) c.3722A>G (p.Asn1241Ser) c.2801A>G (p.Asn934Ser) c.2621A>G (p.Asn874Ser) c.2381A>G (p.Asn794Ser) c.2000A>G (p.Asn667Ser) c.863A>G (p.Asn288Ser) c.3932A>G (p.Asn1311Ser) c.3833A>G (p.Asn1278Ser) c.3803A>G (p.Asn1268Ser) c.3773A>G (p.Asn1258Ser) c.3644A>G (p.Asn1215Ser) c.3623A>G (p.Asn1208Ser) n.4015A>G | gnomAD v4 |
| 6 | g.157189693A>T | CA366234101 | ARID1B | c.3812A>T (p.Asn1271Ile) c.3881A>T (p.Asn1294Ile) c.4100A>T (p.Asn1367Ile) c.3851A>T (p.Asn1284Ile) c.3563A>T (p.Asn1188Ile) c.2129A>T (p.Asn710Ile) c.1292A>T (p.Asn431Ile) c.926A>T (p.Asn309Ile) c.3971A>T (p.Asn1324Ile) n.1968A>T c.1339A>T c.1253A>T n.637A>T c.1313A>T (p.Asn438Ile) c.1472A>T (p.Asn491Ile) c.3602A>T (p.Asn1201Ile) c.3722A>T (p.Asn1241Ile) c.2801A>T (p.Asn934Ile) c.2621A>T (p.Asn874Ile) c.2381A>T (p.Asn794Ile) c.2000A>T (p.Asn667Ile) c.863A>T (p.Asn288Ile) c.3932A>T (p.Asn1311Ile) c.3833A>T (p.Asn1278Ile) c.3803A>T (p.Asn1268Ile) c.3773A>T (p.Asn1258Ile) c.3644A>T (p.Asn1215Ile) c.3623A>T (p.Asn1208Ile) n.4015A>T | |
| 6 | g.157189694T>A | CA366234103 | ARID1B | c.3813T>A (p.Asn1271Lys) c.3882T>A (p.Asn1294Lys) c.4101T>A (p.Asn1367Lys) c.3852T>A (p.Asn1284Lys) c.3564T>A (p.Asn1188Lys) c.2130T>A (p.Asn710Lys) c.1293T>A (p.Asn431Lys) c.927T>A (p.Asn309Lys) c.3972T>A (p.Asn1324Lys) n.1969T>A c.1340T>A c.1254T>A n.638T>A c.1314T>A (p.Asn438Lys) c.1473T>A (p.Asn491Lys) c.3603T>A (p.Asn1201Lys) c.3723T>A (p.Asn1241Lys) c.2802T>A (p.Asn934Lys) c.2622T>A (p.Asn874Lys) c.2382T>A (p.Asn794Lys) c.2001T>A (p.Asn667Lys) c.864T>A (p.Asn288Lys) c.3933T>A (p.Asn1311Lys) c.3834T>A (p.Asn1278Lys) c.3804T>A (p.Asn1268Lys) c.3774T>A (p.Asn1258Lys) c.3645T>A (p.Asn1215Lys) c.3624T>A (p.Asn1208Lys) n.4016T>A | |
| 6 | g.157189694T>C | CA452781520 | ARID1B | c.3813T>C (p.Asn1271=) c.3882T>C (p.Asn1294=) c.4101T>C (p.Asn1367=) c.3852T>C (p.Asn1284=) c.3564T>C (p.Asn1188=) c.2130T>C (p.Asn710=) c.1293T>C (p.Asn431=) c.927T>C (p.Asn309=) c.3972T>C (p.Asn1324=) n.1969T>C c.1340T>C c.1254T>C n.638T>C c.1314T>C (p.Asn438=) c.1473T>C (p.Asn491=) c.3603T>C (p.Asn1201=) c.3723T>C (p.Asn1241=) c.2802T>C (p.Asn934=) c.2622T>C (p.Asn874=) c.2382T>C (p.Asn794=) c.2001T>C (p.Asn667=) c.864T>C (p.Asn288=) c.3933T>C (p.Asn1311=) c.3834T>C (p.Asn1278=) c.3804T>C (p.Asn1268=) c.3774T>C (p.Asn1258=) c.3645T>C (p.Asn1215=) c.3624T>C (p.Asn1208=) n.4016T>C | |
| 6 | g.157189694T>G | CA366234102 | ARID1B | c.3813T>G (p.Asn1271Lys) c.3882T>G (p.Asn1294Lys) c.4101T>G (p.Asn1367Lys) c.3852T>G (p.Asn1284Lys) c.3564T>G (p.Asn1188Lys) c.2130T>G (p.Asn710Lys) c.1293T>G (p.Asn431Lys) c.927T>G (p.Asn309Lys) c.3972T>G (p.Asn1324Lys) n.1969T>G c.1340T>G c.1254T>G n.638T>G c.1314T>G (p.Asn438Lys) c.1473T>G (p.Asn491Lys) c.3603T>G (p.Asn1201Lys) c.3723T>G (p.Asn1241Lys) c.2802T>G (p.Asn934Lys) c.2622T>G (p.Asn874Lys) c.2382T>G (p.Asn794Lys) c.2001T>G (p.Asn667Lys) c.864T>G (p.Asn288Lys) c.3933T>G (p.Asn1311Lys) c.3834T>G (p.Asn1278Lys) c.3804T>G (p.Asn1268Lys) c.3774T>G (p.Asn1258Lys) c.3645T>G (p.Asn1215Lys) c.3624T>G (p.Asn1208Lys) n.4016T>G | |
| 6 | g.157189695T>A | CA366234104 | ARID1B | c.3814T>A (p.Ser1272Thr) c.3883T>A (p.Ser1295Thr) c.4102T>A (p.Ser1368Thr) c.3853T>A (p.Ser1285Thr) c.3565T>A (p.Ser1189Thr) c.2131T>A (p.Ser711Thr) c.1294T>A (p.Ser432Thr) c.928T>A (p.Ser310Thr) c.3973T>A (p.Ser1325Thr) n.1970T>A c.1341T>A c.1255T>A n.639T>A c.1315T>A (p.Ser439Thr) c.1474T>A (p.Ser492Thr) c.3604T>A (p.Ser1202Thr) c.3724T>A (p.Ser1242Thr) c.2803T>A (p.Ser935Thr) c.2623T>A (p.Ser875Thr) c.2383T>A (p.Ser795Thr) c.2002T>A (p.Ser668Thr) c.865T>A (p.Ser289Thr) c.3934T>A (p.Ser1312Thr) c.3835T>A (p.Ser1279Thr) c.3805T>A (p.Ser1269Thr) c.3775T>A (p.Ser1259Thr) c.3646T>A (p.Ser1216Thr) c.3625T>A (p.Ser1209Thr) n.4017T>A | |
| 6 | g.157189695T>C | CA366234105 | ARID1B | c.3814T>C (p.Ser1272Pro) c.3883T>C (p.Ser1295Pro) c.4102T>C (p.Ser1368Pro) c.3853T>C (p.Ser1285Pro) c.3565T>C (p.Ser1189Pro) c.2131T>C (p.Ser711Pro) c.1294T>C (p.Ser432Pro) c.928T>C (p.Ser310Pro) c.3973T>C (p.Ser1325Pro) n.1970T>C c.1341T>C c.1255T>C n.639T>C c.1315T>C (p.Ser439Pro) c.1474T>C (p.Ser492Pro) c.3604T>C (p.Ser1202Pro) c.3724T>C (p.Ser1242Pro) c.2803T>C (p.Ser935Pro) c.2623T>C (p.Ser875Pro) c.2383T>C (p.Ser795Pro) c.2002T>C (p.Ser668Pro) c.865T>C (p.Ser289Pro) c.3934T>C (p.Ser1312Pro) c.3835T>C (p.Ser1279Pro) c.3805T>C (p.Ser1269Pro) c.3775T>C (p.Ser1259Pro) c.3646T>C (p.Ser1216Pro) c.3625T>C (p.Ser1209Pro) n.4017T>C | |
| 6 | g.157189695T>G | CA366234106 | ARID1B | c.3814T>G (p.Ser1272Ala) c.3883T>G (p.Ser1295Ala) c.4102T>G (p.Ser1368Ala) c.3853T>G (p.Ser1285Ala) c.3565T>G (p.Ser1189Ala) c.2131T>G (p.Ser711Ala) c.1294T>G (p.Ser432Ala) c.928T>G (p.Ser310Ala) c.3973T>G (p.Ser1325Ala) n.1970T>G c.1341T>G c.1255T>G n.639T>G c.1315T>G (p.Ser439Ala) c.1474T>G (p.Ser492Ala) c.3604T>G (p.Ser1202Ala) c.3724T>G (p.Ser1242Ala) c.2803T>G (p.Ser935Ala) c.2623T>G (p.Ser875Ala) c.2383T>G (p.Ser795Ala) c.2002T>G (p.Ser668Ala) c.865T>G (p.Ser289Ala) c.3934T>G (p.Ser1312Ala) c.3835T>G (p.Ser1279Ala) c.3805T>G (p.Ser1269Ala) c.3775T>G (p.Ser1259Ala) c.3646T>G (p.Ser1216Ala) c.3625T>G (p.Ser1209Ala) n.4017T>G | |
| 6 | g.157189695_157189701dup | CA2695207252 | ARID1B | c.3814_3820dup (p.Ala1274ValfsTer8) c.3883_3889dup (p.Ala1297ValfsTer8) c.4102_4108dup (p.Ala1370ValfsTer8) c.3853_3859dup (p.Ala1287ValfsTer8) c.3565_3571dup (p.Ala1191ValfsTer8) c.2131_2137dup (p.Ala713ValfsTer8) c.1294_1300dup (p.Ala434ValfsTer8) c.928_934dup (p.Ala312ValfsTer8) c.3973_3979dup (p.Ala1327ValfsTer8) n.1970_1976dup c.1341_1347dup c.1255_1261dup n.639_645dup c.1315_1321dup (p.Ala441ValfsTer8) c.1474_1480dup (p.Ala494ValfsTer8) c.3604_3610dup (p.Ala1204ValfsTer8) c.3724_3730dup (p.Ala1244ValfsTer8) c.2803_2809dup (p.Ala937ValfsTer8) c.2623_2629dup (p.Ala877ValfsTer8) c.2383_2389dup (p.Ala797ValfsTer8) c.2002_2008dup (p.Ala670ValfsTer8) c.865_871dup (p.Ala291ValfsTer8) c.3934_3940dup (p.Ala1314ValfsTer8) c.3835_3841dup (p.Ala1281ValfsTer8) c.3805_3811dup (p.Ala1271ValfsTer8) c.3775_3781dup (p.Ala1261ValfsTer8) c.3646_3652dup (p.Ala1218ValfsTer8) c.3625_3631dup (p.Ala1211ValfsTer8) n.4017_4023dup | |
| 6 | g.157189696C>A | CA366234107 | ARID1B | c.3815C>A (p.Ser1272Tyr) c.3884C>A (p.Ser1295Tyr) c.4103C>A (p.Ser1368Tyr) c.3854C>A (p.Ser1285Tyr) c.3566C>A (p.Ser1189Tyr) c.2132C>A (p.Ser711Tyr) c.1295C>A (p.Ser432Tyr) c.929C>A (p.Ser310Tyr) c.3974C>A (p.Ser1325Tyr) n.1971C>A c.1342C>A c.1256C>A n.640C>A c.1316C>A (p.Ser439Tyr) c.1475C>A (p.Ser492Tyr) c.3605C>A (p.Ser1202Tyr) c.3725C>A (p.Ser1242Tyr) c.2804C>A (p.Ser935Tyr) c.2624C>A (p.Ser875Tyr) c.2384C>A (p.Ser795Tyr) c.2003C>A (p.Ser668Tyr) c.866C>A (p.Ser289Tyr) c.3935C>A (p.Ser1312Tyr) c.3836C>A (p.Ser1279Tyr) c.3806C>A (p.Ser1269Tyr) c.3776C>A (p.Ser1259Tyr) c.3647C>A (p.Ser1216Tyr) c.3626C>A (p.Ser1209Tyr) n.4018C>A | |
| 6 | g.157189696C= | CA1675538245 | ARID1B | c.3815C= (p.Ser1272=) c.3884C= (p.Ser1295=) c.4103C= (p.Ser1368=) c.3854C= (p.Ser1285=) c.3566C= (p.Ser1189=) c.2132C= (p.Ser711=) c.1295C= (p.Ser432=) c.929C= (p.Ser310=) c.3974C= (p.Ser1325=) n.1971C= c.1342C= c.1256C= n.640C= c.1316C= (p.Ser439=) c.1475C= (p.Ser492=) c.3605C= (p.Ser1202=) c.3725C= (p.Ser1242=) c.2804C= (p.Ser935=) c.2624C= (p.Ser875=) c.2384C= (p.Ser795=) c.2003C= (p.Ser668=) c.866C= (p.Ser289=) c.3935C= (p.Ser1312=) c.3836C= (p.Ser1279=) c.3806C= (p.Ser1269=) c.3776C= (p.Ser1259=) c.3647C= (p.Ser1216=) c.3626C= (p.Ser1209=) n.4018C= | |
| 6 | g.157189696C>G | CA366234108 | ARID1B | c.3815C>G (p.Ser1272Cys) c.3884C>G (p.Ser1295Cys) c.4103C>G (p.Ser1368Cys) c.3854C>G (p.Ser1285Cys) c.3566C>G (p.Ser1189Cys) c.2132C>G (p.Ser711Cys) c.1295C>G (p.Ser432Cys) c.929C>G (p.Ser310Cys) c.3974C>G (p.Ser1325Cys) n.1971C>G c.1342C>G c.1256C>G n.640C>G c.1316C>G (p.Ser439Cys) c.1475C>G (p.Ser492Cys) c.3605C>G (p.Ser1202Cys) c.3725C>G (p.Ser1242Cys) c.2804C>G (p.Ser935Cys) c.2624C>G (p.Ser875Cys) c.2384C>G (p.Ser795Cys) c.2003C>G (p.Ser668Cys) c.866C>G (p.Ser289Cys) c.3935C>G (p.Ser1312Cys) c.3836C>G (p.Ser1279Cys) c.3806C>G (p.Ser1269Cys) c.3776C>G (p.Ser1259Cys) c.3647C>G (p.Ser1216Cys) c.3626C>G (p.Ser1209Cys) n.4018C>G | |
| 6 | g.157189696C>T | CA150362517 | ARID1B | c.3815C>T (p.Ser1272Phe) c.3884C>T (p.Ser1295Phe) c.4103C>T (p.Ser1368Phe) c.3854C>T (p.Ser1285Phe) c.3566C>T (p.Ser1189Phe) c.2132C>T (p.Ser711Phe) c.1295C>T (p.Ser432Phe) c.929C>T (p.Ser310Phe) c.3974C>T (p.Ser1325Phe) n.1971C>T c.1342C>T c.1256C>T n.640C>T c.1316C>T (p.Ser439Phe) c.1475C>T (p.Ser492Phe) c.3605C>T (p.Ser1202Phe) c.3725C>T (p.Ser1242Phe) c.2804C>T (p.Ser935Phe) c.2624C>T (p.Ser875Phe) c.2384C>T (p.Ser795Phe) c.2003C>T (p.Ser668Phe) c.866C>T (p.Ser289Phe) c.3935C>T (p.Ser1312Phe) c.3836C>T (p.Ser1279Phe) c.3806C>T (p.Ser1269Phe) c.3776C>T (p.Ser1259Phe) c.3647C>T (p.Ser1216Phe) c.3626C>T (p.Ser1209Phe) n.4018C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.157189697C>A | CA452781521 | ARID1B | c.3816C>A (p.Ser1272=) c.3885C>A (p.Ser1295=) c.4104C>A (p.Ser1368=) c.3855C>A (p.Ser1285=) c.3567C>A (p.Ser1189=) c.2133C>A (p.Ser711=) c.1296C>A (p.Ser432=) c.930C>A (p.Ser310=) c.3975C>A (p.Ser1325=) n.1972C>A c.1343C>A c.1257C>A n.641C>A c.1317C>A (p.Ser439=) c.1476C>A (p.Ser492=) c.3606C>A (p.Ser1202=) c.3726C>A (p.Ser1242=) c.2805C>A (p.Ser935=) c.2625C>A (p.Ser875=) c.2385C>A (p.Ser795=) c.2004C>A (p.Ser668=) c.867C>A (p.Ser289=) c.3936C>A (p.Ser1312=) c.3837C>A (p.Ser1279=) c.3807C>A (p.Ser1269=) c.3777C>A (p.Ser1259=) c.3648C>A (p.Ser1216=) c.3627C>A (p.Ser1209=) n.4019C>A | |
| 6 | g.157189697C>G | CA452781522 | ARID1B | c.3816C>G (p.Ser1272=) c.3885C>G (p.Ser1295=) c.4104C>G (p.Ser1368=) c.3855C>G (p.Ser1285=) c.3567C>G (p.Ser1189=) c.2133C>G (p.Ser711=) c.1296C>G (p.Ser432=) c.930C>G (p.Ser310=) c.3975C>G (p.Ser1325=) n.1972C>G c.1343C>G c.1257C>G n.641C>G c.1317C>G (p.Ser439=) c.1476C>G (p.Ser492=) c.3606C>G (p.Ser1202=) c.3726C>G (p.Ser1242=) c.2805C>G (p.Ser935=) c.2625C>G (p.Ser875=) c.2385C>G (p.Ser795=) c.2004C>G (p.Ser668=) c.867C>G (p.Ser289=) c.3936C>G (p.Ser1312=) c.3837C>G (p.Ser1279=) c.3807C>G (p.Ser1269=) c.3777C>G (p.Ser1259=) c.3648C>G (p.Ser1216=) c.3627C>G (p.Ser1209=) n.4019C>G | |
| 6 | g.157189697C>T | CA452781523 | ARID1B | c.3816C>T (p.Ser1272=) c.3885C>T (p.Ser1295=) c.4104C>T (p.Ser1368=) c.3855C>T (p.Ser1285=) c.3567C>T (p.Ser1189=) c.2133C>T (p.Ser711=) c.1296C>T (p.Ser432=) c.930C>T (p.Ser310=) c.3975C>T (p.Ser1325=) n.1972C>T c.1343C>T c.1257C>T n.641C>T c.1317C>T (p.Ser439=) c.1476C>T (p.Ser492=) c.3606C>T (p.Ser1202=) c.3726C>T (p.Ser1242=) c.2805C>T (p.Ser935=) c.2625C>T (p.Ser875=) c.2385C>T (p.Ser795=) c.2004C>T (p.Ser668=) c.867C>T (p.Ser289=) c.3936C>T (p.Ser1312=) c.3837C>T (p.Ser1279=) c.3807C>T (p.Ser1269=) c.3777C>T (p.Ser1259=) c.3648C>T (p.Ser1216=) c.3627C>T (p.Ser1209=) n.4019C>T | |
| 6 | g.157189698A>C | CA366234109 | ARID1B | c.3817A>C (p.Met1273Leu) c.3886A>C (p.Met1296Leu) c.4105A>C (p.Met1369Leu) c.3856A>C (p.Met1286Leu) c.3568A>C (p.Met1190Leu) c.2134A>C (p.Met712Leu) c.1297A>C (p.Met433Leu) c.931A>C (p.Met311Leu) c.3976A>C (p.Met1326Leu) n.1973A>C c.1344A>C c.1258A>C n.642A>C c.1318A>C (p.Met440Leu) c.1477A>C (p.Met493Leu) c.3607A>C (p.Met1203Leu) c.3727A>C (p.Met1243Leu) c.2806A>C (p.Met936Leu) c.2626A>C (p.Met876Leu) c.2386A>C (p.Met796Leu) c.2005A>C (p.Met669Leu) c.868A>C (p.Met290Leu) c.3937A>C (p.Met1313Leu) c.3838A>C (p.Met1280Leu) c.3808A>C (p.Met1270Leu) c.3778A>C (p.Met1260Leu) c.3649A>C (p.Met1217Leu) c.3628A>C (p.Met1210Leu) n.4020A>C | |
| 6 | g.157189698A>G | CA366234110 | ARID1B | c.3817A>G (p.Met1273Val) c.3886A>G (p.Met1296Val) c.4105A>G (p.Met1369Val) c.3856A>G (p.Met1286Val) c.3568A>G (p.Met1190Val) c.2134A>G (p.Met712Val) c.1297A>G (p.Met433Val) c.931A>G (p.Met311Val) c.3976A>G (p.Met1326Val) n.1973A>G c.1344A>G c.1258A>G n.642A>G c.1318A>G (p.Met440Val) c.1477A>G (p.Met493Val) c.3607A>G (p.Met1203Val) c.3727A>G (p.Met1243Val) c.2806A>G (p.Met936Val) c.2626A>G (p.Met876Val) c.2386A>G (p.Met796Val) c.2005A>G (p.Met669Val) c.868A>G (p.Met290Val) c.3937A>G (p.Met1313Val) c.3838A>G (p.Met1280Val) c.3808A>G (p.Met1270Val) c.3778A>G (p.Met1260Val) c.3649A>G (p.Met1217Val) c.3628A>G (p.Met1210Val) n.4020A>G | |
| 6 | g.157189698A>T | CA366234111 | ARID1B | c.3817A>T (p.Met1273Leu) c.3886A>T (p.Met1296Leu) c.4105A>T (p.Met1369Leu) c.3856A>T (p.Met1286Leu) c.3568A>T (p.Met1190Leu) c.2134A>T (p.Met712Leu) c.1297A>T (p.Met433Leu) c.931A>T (p.Met311Leu) c.3976A>T (p.Met1326Leu) n.1973A>T c.1344A>T c.1258A>T n.642A>T c.1318A>T (p.Met440Leu) c.1477A>T (p.Met493Leu) c.3607A>T (p.Met1203Leu) c.3727A>T (p.Met1243Leu) c.2806A>T (p.Met936Leu) c.2626A>T (p.Met876Leu) c.2386A>T (p.Met796Leu) c.2005A>T (p.Met669Leu) c.868A>T (p.Met290Leu) c.3937A>T (p.Met1313Leu) c.3838A>T (p.Met1280Leu) c.3808A>T (p.Met1270Leu) c.3778A>T (p.Met1260Leu) c.3649A>T (p.Met1217Leu) c.3628A>T (p.Met1210Leu) n.4020A>T | |
| 6 | g.157189699T>A | CA366234112 | ARID1B | c.3818T>A (p.Met1273Lys) c.3887T>A (p.Met1296Lys) c.4106T>A (p.Met1369Lys) c.3857T>A (p.Met1286Lys) c.3569T>A (p.Met1190Lys) c.2135T>A (p.Met712Lys) c.1298T>A (p.Met433Lys) c.932T>A (p.Met311Lys) c.3977T>A (p.Met1326Lys) n.1974T>A c.1345T>A c.1259T>A n.643T>A c.1319T>A (p.Met440Lys) c.1478T>A (p.Met493Lys) c.3608T>A (p.Met1203Lys) c.3728T>A (p.Met1243Lys) c.2807T>A (p.Met936Lys) c.2627T>A (p.Met876Lys) c.2387T>A (p.Met796Lys) c.2006T>A (p.Met669Lys) c.869T>A (p.Met290Lys) c.3938T>A (p.Met1313Lys) c.3839T>A (p.Met1280Lys) c.3809T>A (p.Met1270Lys) c.3779T>A (p.Met1260Lys) c.3650T>A (p.Met1217Lys) c.3629T>A (p.Met1210Lys) n.4021T>A | |
| 6 | g.157189699T>C | CA366234113 | ARID1B | c.3818T>C (p.Met1273Thr) c.3887T>C (p.Met1296Thr) c.4106T>C (p.Met1369Thr) c.3857T>C (p.Met1286Thr) c.3569T>C (p.Met1190Thr) c.2135T>C (p.Met712Thr) c.1298T>C (p.Met433Thr) c.932T>C (p.Met311Thr) c.3977T>C (p.Met1326Thr) n.1974T>C c.1345T>C c.1259T>C n.643T>C c.1319T>C (p.Met440Thr) c.1478T>C (p.Met493Thr) c.3608T>C (p.Met1203Thr) c.3728T>C (p.Met1243Thr) c.2807T>C (p.Met936Thr) c.2627T>C (p.Met876Thr) c.2387T>C (p.Met796Thr) c.2006T>C (p.Met669Thr) c.869T>C (p.Met290Thr) c.3938T>C (p.Met1313Thr) c.3839T>C (p.Met1280Thr) c.3809T>C (p.Met1270Thr) c.3779T>C (p.Met1260Thr) c.3650T>C (p.Met1217Thr) c.3629T>C (p.Met1210Thr) n.4021T>C | ClinVar |
| 6 | g.157189699T>G | CA366234114 | ARID1B | c.3818T>G (p.Met1273Arg) c.3887T>G (p.Met1296Arg) c.4106T>G (p.Met1369Arg) c.3857T>G (p.Met1286Arg) c.3569T>G (p.Met1190Arg) c.2135T>G (p.Met712Arg) c.1298T>G (p.Met433Arg) c.932T>G (p.Met311Arg) c.3977T>G (p.Met1326Arg) n.1974T>G c.1345T>G c.1259T>G n.643T>G c.1319T>G (p.Met440Arg) c.1478T>G (p.Met493Arg) c.3608T>G (p.Met1203Arg) c.3728T>G (p.Met1243Arg) c.2807T>G (p.Met936Arg) c.2627T>G (p.Met876Arg) c.2387T>G (p.Met796Arg) c.2006T>G (p.Met669Arg) c.869T>G (p.Met290Arg) c.3938T>G (p.Met1313Arg) c.3839T>G (p.Met1280Arg) c.3809T>G (p.Met1270Arg) c.3779T>G (p.Met1260Arg) c.3650T>G (p.Met1217Arg) c.3629T>G (p.Met1210Arg) n.4021T>G | |
| 6 | g.157189700G>A | CA366234117 | ARID1B | c.3819G>A (p.Met1273Ile) c.3888G>A (p.Met1296Ile) c.4107G>A (p.Met1369Ile) c.3858G>A (p.Met1286Ile) c.3570G>A (p.Met1190Ile) c.2136G>A (p.Met712Ile) c.1299G>A (p.Met433Ile) c.933G>A (p.Met311Ile) c.3978G>A (p.Met1326Ile) n.1975G>A c.1346G>A c.1260G>A n.644G>A c.1320G>A (p.Met440Ile) c.1479G>A (p.Met493Ile) c.3609G>A (p.Met1203Ile) c.3729G>A (p.Met1243Ile) c.2808G>A (p.Met936Ile) c.2628G>A (p.Met876Ile) c.2388G>A (p.Met796Ile) c.2007G>A (p.Met669Ile) c.870G>A (p.Met290Ile) c.3939G>A (p.Met1313Ile) c.3840G>A (p.Met1280Ile) c.3810G>A (p.Met1270Ile) c.3780G>A (p.Met1260Ile) c.3651G>A (p.Met1217Ile) c.3630G>A (p.Met1210Ile) n.4022G>A | |
| 6 | g.157189700G>C | CA366234115 | ARID1B | c.3819G>C (p.Met1273Ile) c.3888G>C (p.Met1296Ile) c.4107G>C (p.Met1369Ile) c.3858G>C (p.Met1286Ile) c.3570G>C (p.Met1190Ile) c.2136G>C (p.Met712Ile) c.1299G>C (p.Met433Ile) c.933G>C (p.Met311Ile) c.3978G>C (p.Met1326Ile) n.1975G>C c.1346G>C c.1260G>C n.644G>C c.1320G>C (p.Met440Ile) c.1479G>C (p.Met493Ile) c.3609G>C (p.Met1203Ile) c.3729G>C (p.Met1243Ile) c.2808G>C (p.Met936Ile) c.2628G>C (p.Met876Ile) c.2388G>C (p.Met796Ile) c.2007G>C (p.Met669Ile) c.870G>C (p.Met290Ile) c.3939G>C (p.Met1313Ile) c.3840G>C (p.Met1280Ile) c.3810G>C (p.Met1270Ile) c.3780G>C (p.Met1260Ile) c.3651G>C (p.Met1217Ile) c.3630G>C (p.Met1210Ile) n.4022G>C | |
| 6 | g.157189700G>T | CA366234116 | ARID1B | c.3819G>T (p.Met1273Ile) c.3888G>T (p.Met1296Ile) c.4107G>T (p.Met1369Ile) c.3858G>T (p.Met1286Ile) c.3570G>T (p.Met1190Ile) c.2136G>T (p.Met712Ile) c.1299G>T (p.Met433Ile) c.933G>T (p.Met311Ile) c.3978G>T (p.Met1326Ile) n.1975G>T c.1346G>T c.1260G>T n.644G>T c.1320G>T (p.Met440Ile) c.1479G>T (p.Met493Ile) c.3609G>T (p.Met1203Ile) c.3729G>T (p.Met1243Ile) c.2808G>T (p.Met936Ile) c.2628G>T (p.Met876Ile) c.2388G>T (p.Met796Ile) c.2007G>T (p.Met669Ile) c.870G>T (p.Met290Ile) c.3939G>T (p.Met1313Ile) c.3840G>T (p.Met1280Ile) c.3810G>T (p.Met1270Ile) c.3780G>T (p.Met1260Ile) c.3651G>T (p.Met1217Ile) c.3630G>T (p.Met1210Ile) n.4022G>T | |
| 6 | g.157189700_157189702delinsGGC | CA1675538246 | ARID1B | c.3819_3821delinsGGC (p.Met1273=) c.3888_3890delinsGGC (p.Met1296=) c.4107_4109delinsGGC (p.Met1369=) c.3858_3860delinsGGC (p.Met1286=) c.3570_3572delinsGGC (p.Met1190=) c.2136_2138delinsGGC (p.Met712=) c.1299_1301delinsGGC (p.Met433=) c.933_935delinsGGC (p.Met311=) c.3978_3980delinsGGC (p.Met1326=) n.1975_1977delinsGGC c.1346_1348delinsGGC c.1260_1262delinsGGC n.644_646delinsGGC c.1320_1322delinsGGC (p.Met440=) c.1479_1481delinsGGC (p.Met493=) c.3609_3611delinsGGC (p.Met1203=) c.3729_3731delinsGGC (p.Met1243=) c.2808_2810delinsGGC (p.Met936=) c.2628_2630delinsGGC (p.Met876=) c.2388_2390delinsGGC (p.Met796=) c.2007_2009delinsGGC (p.Met669=) c.870_872delinsGGC (p.Met290=) c.3939_3941delinsGGC (p.Met1313=) c.3840_3842delinsGGC (p.Met1280=) c.3810_3812delinsGGC (p.Met1270=) c.3780_3782delinsGGC (p.Met1260=) c.3651_3653delinsGGC (p.Met1217=) c.3630_3632delinsGGC (p.Met1210=) n.4022_4024delinsGGC | |
| 6 | g.157189701G>A | CA366234118 | ARID1B | c.3820G>A (p.Ala1274Thr) c.3889G>A (p.Ala1297Thr) c.4108G>A (p.Ala1370Thr) c.3859G>A (p.Ala1287Thr) c.3571G>A (p.Ala1191Thr) c.2137G>A (p.Ala713Thr) c.1300G>A (p.Ala434Thr) c.934G>A (p.Ala312Thr) c.3979G>A (p.Ala1327Thr) n.1976G>A c.1347G>A c.1261G>A n.645G>A c.1321G>A (p.Ala441Thr) c.1480G>A (p.Ala494Thr) c.3610G>A (p.Ala1204Thr) c.3730G>A (p.Ala1244Thr) c.2809G>A (p.Ala937Thr) c.2629G>A (p.Ala877Thr) c.2389G>A (p.Ala797Thr) c.2008G>A (p.Ala670Thr) c.871G>A (p.Ala291Thr) c.3940G>A (p.Ala1314Thr) c.3841G>A (p.Ala1281Thr) c.3811G>A (p.Ala1271Thr) c.3781G>A (p.Ala1261Thr) c.3652G>A (p.Ala1218Thr) c.3631G>A (p.Ala1211Thr) n.4023G>A | dbSNP gnomAD v4 |
| 6 | g.157189701G>C | CA366234119 | ARID1B | c.3820G>C (p.Ala1274Pro) c.3889G>C (p.Ala1297Pro) c.4108G>C (p.Ala1370Pro) c.3859G>C (p.Ala1287Pro) c.3571G>C (p.Ala1191Pro) c.2137G>C (p.Ala713Pro) c.1300G>C (p.Ala434Pro) c.934G>C (p.Ala312Pro) c.3979G>C (p.Ala1327Pro) n.1976G>C c.1347G>C c.1261G>C n.645G>C c.1321G>C (p.Ala441Pro) c.1480G>C (p.Ala494Pro) c.3610G>C (p.Ala1204Pro) c.3730G>C (p.Ala1244Pro) c.2809G>C (p.Ala937Pro) c.2629G>C (p.Ala877Pro) c.2389G>C (p.Ala797Pro) c.2008G>C (p.Ala670Pro) c.871G>C (p.Ala291Pro) c.3940G>C (p.Ala1314Pro) c.3841G>C (p.Ala1281Pro) c.3811G>C (p.Ala1271Pro) c.3781G>C (p.Ala1261Pro) c.3652G>C (p.Ala1218Pro) c.3631G>C (p.Ala1211Pro) n.4023G>C | |
| 6 | g.157189701G>T | CA366234120 | ARID1B | c.3820G>T (p.Ala1274Ser) c.3889G>T (p.Ala1297Ser) c.4108G>T (p.Ala1370Ser) c.3859G>T (p.Ala1287Ser) c.3571G>T (p.Ala1191Ser) c.2137G>T (p.Ala713Ser) c.1300G>T (p.Ala434Ser) c.934G>T (p.Ala312Ser) c.3979G>T (p.Ala1327Ser) n.1976G>T c.1347G>T c.1261G>T n.645G>T c.1321G>T (p.Ala441Ser) c.1480G>T (p.Ala494Ser) c.3610G>T (p.Ala1204Ser) c.3730G>T (p.Ala1244Ser) c.2809G>T (p.Ala937Ser) c.2629G>T (p.Ala877Ser) c.2389G>T (p.Ala797Ser) c.2008G>T (p.Ala670Ser) c.871G>T (p.Ala291Ser) c.3940G>T (p.Ala1314Ser) c.3841G>T (p.Ala1281Ser) c.3811G>T (p.Ala1271Ser) c.3781G>T (p.Ala1261Ser) c.3652G>T (p.Ala1218Ser) c.3631G>T (p.Ala1211Ser) n.4023G>T | |
| 6 | g.157189701_157189702delinsA | CA915944782 | ARID1B | c.3820_3821delinsA (p.Ala1274LysfsTer7) c.3889_3890delinsA (p.Ala1297LysfsTer7) c.4108_4109delinsA (p.Ala1370LysfsTer7) c.3859_3860delinsA (p.Ala1287LysfsTer7) c.3571_3572delinsA (p.Ala1191LysfsTer7) c.2137_2138delinsA (p.Ala713LysfsTer7) c.1300_1301delinsA (p.Ala434LysfsTer7) c.934_935delinsA (p.Ala312LysfsTer7) c.3979_3980delinsA (p.Ala1327LysfsTer7) n.1976_1977delinsA c.1347_1348delinsA c.1261_1262delinsA n.645_646delinsA c.1321_1322delinsA (p.Ala441LysfsTer7) c.1480_1481delinsA (p.Ala494LysfsTer7) c.3610_3611delinsA (p.Ala1204LysfsTer7) c.3730_3731delinsA (p.Ala1244LysfsTer7) c.2809_2810delinsA (p.Ala937LysfsTer7) c.2629_2630delinsA (p.Ala877LysfsTer7) c.2389_2390delinsA (p.Ala797LysfsTer7) c.2008_2009delinsA (p.Ala670LysfsTer7) c.871_872delinsA (p.Ala291LysfsTer7) c.3940_3941delinsA (p.Ala1314LysfsTer7) c.3841_3842delinsA (p.Ala1281LysfsTer7) c.3811_3812delinsA (p.Ala1271LysfsTer7) c.3781_3782delinsA (p.Ala1261LysfsTer7) c.3652_3653delinsA (p.Ala1218LysfsTer7) c.3631_3632delinsA (p.Ala1211LysfsTer7) n.4023_4024delinsA | ClinVar dbSNP |
| 6 | g.157189702C>A | CA366234121 | ARID1B | c.3821C>A (p.Ala1274Glu) c.3890C>A (p.Ala1297Glu) c.4109C>A (p.Ala1370Glu) c.3860C>A (p.Ala1287Glu) c.3572C>A (p.Ala1191Glu) c.2138C>A (p.Ala713Glu) c.1301C>A (p.Ala434Glu) c.935C>A (p.Ala312Glu) c.3980C>A (p.Ala1327Glu) n.1977C>A c.1348C>A c.1262C>A n.646C>A c.1322C>A (p.Ala441Glu) c.1481C>A (p.Ala494Glu) c.3611C>A (p.Ala1204Glu) c.3731C>A (p.Ala1244Glu) c.2810C>A (p.Ala937Glu) c.2630C>A (p.Ala877Glu) c.2390C>A (p.Ala797Glu) c.2009C>A (p.Ala670Glu) c.872C>A (p.Ala291Glu) c.3941C>A (p.Ala1314Glu) c.3842C>A (p.Ala1281Glu) c.3812C>A (p.Ala1271Glu) c.3782C>A (p.Ala1261Glu) c.3653C>A (p.Ala1218Glu) c.3632C>A (p.Ala1211Glu) n.4024C>A | |
| 6 | g.157189702C>G | CA366234122 | ARID1B | c.3821C>G (p.Ala1274Gly) c.3890C>G (p.Ala1297Gly) c.4109C>G (p.Ala1370Gly) c.3860C>G (p.Ala1287Gly) c.3572C>G (p.Ala1191Gly) c.2138C>G (p.Ala713Gly) c.1301C>G (p.Ala434Gly) c.935C>G (p.Ala312Gly) c.3980C>G (p.Ala1327Gly) n.1977C>G c.1348C>G c.1262C>G n.646C>G c.1322C>G (p.Ala441Gly) c.1481C>G (p.Ala494Gly) c.3611C>G (p.Ala1204Gly) c.3731C>G (p.Ala1244Gly) c.2810C>G (p.Ala937Gly) c.2630C>G (p.Ala877Gly) c.2390C>G (p.Ala797Gly) c.2009C>G (p.Ala670Gly) c.872C>G (p.Ala291Gly) c.3941C>G (p.Ala1314Gly) c.3842C>G (p.Ala1281Gly) c.3812C>G (p.Ala1271Gly) c.3782C>G (p.Ala1261Gly) c.3653C>G (p.Ala1218Gly) c.3632C>G (p.Ala1211Gly) n.4024C>G | dbSNP |
| 6 | g.157189702C>T | CA366234123 | ARID1B | c.3821C>T (p.Ala1274Val) c.3890C>T (p.Ala1297Val) c.4109C>T (p.Ala1370Val) c.3860C>T (p.Ala1287Val) c.3572C>T (p.Ala1191Val) c.2138C>T (p.Ala713Val) c.1301C>T (p.Ala434Val) c.935C>T (p.Ala312Val) c.3980C>T (p.Ala1327Val) n.1977C>T c.1348C>T c.1262C>T n.646C>T c.1322C>T (p.Ala441Val) c.1481C>T (p.Ala494Val) c.3611C>T (p.Ala1204Val) c.3731C>T (p.Ala1244Val) c.2810C>T (p.Ala937Val) c.2630C>T (p.Ala877Val) c.2390C>T (p.Ala797Val) c.2009C>T (p.Ala670Val) c.872C>T (p.Ala291Val) c.3941C>T (p.Ala1314Val) c.3842C>T (p.Ala1281Val) c.3812C>T (p.Ala1271Val) c.3782C>T (p.Ala1261Val) c.3653C>T (p.Ala1218Val) c.3632C>T (p.Ala1211Val) n.4024C>T | |
| 6 | g.157189703A>C | CA452781526 | ARID1B | c.3822A>C (p.Ala1274=) c.3891A>C (p.Ala1297=) c.4110A>C (p.Ala1370=) c.3861A>C (p.Ala1287=) c.3573A>C (p.Ala1191=) c.2139A>C (p.Ala713=) c.1302A>C (p.Ala434=) c.936A>C (p.Ala312=) c.3981A>C (p.Ala1327=) n.1978A>C c.1349A>C c.1263A>C n.647A>C c.1323A>C (p.Ala441=) c.1482A>C (p.Ala494=) c.3612A>C (p.Ala1204=) c.3732A>C (p.Ala1244=) c.2811A>C (p.Ala937=) c.2631A>C (p.Ala877=) c.2391A>C (p.Ala797=) c.2010A>C (p.Ala670=) c.873A>C (p.Ala291=) c.3942A>C (p.Ala1314=) c.3843A>C (p.Ala1281=) c.3813A>C (p.Ala1271=) c.3783A>C (p.Ala1261=) c.3654A>C (p.Ala1218=) c.3633A>C (p.Ala1211=) n.4025A>C | |
| 6 | g.157189703A>G | CA452781524 | ARID1B | c.3822A>G (p.Ala1274=) c.3891A>G (p.Ala1297=) c.4110A>G (p.Ala1370=) c.3861A>G (p.Ala1287=) c.3573A>G (p.Ala1191=) c.2139A>G (p.Ala713=) c.1302A>G (p.Ala434=) c.936A>G (p.Ala312=) c.3981A>G (p.Ala1327=) n.1978A>G c.1349A>G c.1263A>G n.647A>G c.1323A>G (p.Ala441=) c.1482A>G (p.Ala494=) c.3612A>G (p.Ala1204=) c.3732A>G (p.Ala1244=) c.2811A>G (p.Ala937=) c.2631A>G (p.Ala877=) c.2391A>G (p.Ala797=) c.2010A>G (p.Ala670=) c.873A>G (p.Ala291=) c.3942A>G (p.Ala1314=) c.3843A>G (p.Ala1281=) c.3813A>G (p.Ala1271=) c.3783A>G (p.Ala1261=) c.3654A>G (p.Ala1218=) c.3633A>G (p.Ala1211=) n.4025A>G | |
| 6 | g.157189703A>T | CA452781525 | ARID1B | c.3822A>T (p.Ala1274=) c.3891A>T (p.Ala1297=) c.4110A>T (p.Ala1370=) c.3861A>T (p.Ala1287=) c.3573A>T (p.Ala1191=) c.2139A>T (p.Ala713=) c.1302A>T (p.Ala434=) c.936A>T (p.Ala312=) c.3981A>T (p.Ala1327=) n.1978A>T c.1349A>T c.1263A>T n.647A>T c.1323A>T (p.Ala441=) c.1482A>T (p.Ala494=) c.3612A>T (p.Ala1204=) c.3732A>T (p.Ala1244=) c.2811A>T (p.Ala937=) c.2631A>T (p.Ala877=) c.2391A>T (p.Ala797=) c.2010A>T (p.Ala670=) c.873A>T (p.Ala291=) c.3942A>T (p.Ala1314=) c.3843A>T (p.Ala1281=) c.3813A>T (p.Ala1271=) c.3783A>T (p.Ala1261=) c.3654A>T (p.Ala1218=) c.3633A>T (p.Ala1211=) n.4025A>T |