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.157198835T>A | CA10575558 | ARID1B | c.4248T>A (p.Tyr1416Ter) c.4317T>A (p.Tyr1439Ter) c.4536T>A (p.Tyr1512Ter) c.4287T>A (p.Tyr1429Ter) c.3999T>A (p.Tyr1333Ter) c.2565T>A (p.Tyr855Ter) c.1728T>A (p.Tyr576Ter) c.1359T>A (p.Tyr453Ter) n.2870T>A n.327T>A c.4407T>A (p.Tyr1469Ter) n.2404T>A c.1775T>A c.1689T>A n.1073T>A c.1749T>A (p.Tyr583Ter) c.1908T>A (p.Tyr636Ter) c.4038T>A (p.Tyr1346Ter) c.4158T>A (p.Tyr1386Ter) c.3237T>A (p.Tyr1079Ter) c.3057T>A (p.Tyr1019Ter) c.2817T>A (p.Tyr939Ter) c.2436T>A (p.Tyr812Ter) c.1299T>A (p.Tyr433Ter) c.4368T>A (p.Tyr1456Ter) c.4269T>A (p.Tyr1423Ter) c.4239T>A (p.Tyr1413Ter) c.4209T>A (p.Tyr1403Ter) c.4080T>A (p.Tyr1360Ter) c.4059T>A (p.Tyr1353Ter) n.4427-1870T>A | ClinVar dbSNP |
| 6 | g.157198835T>C | CA4067623 | ARID1B | c.4248T>C (p.Tyr1416=) c.4317T>C (p.Tyr1439=) c.4536T>C (p.Tyr1512=) c.4287T>C (p.Tyr1429=) c.3999T>C (p.Tyr1333=) c.2565T>C (p.Tyr855=) c.1728T>C (p.Tyr576=) c.1359T>C (p.Tyr453=) n.2870T>C n.327T>C c.4407T>C (p.Tyr1469=) n.2404T>C c.1775T>C c.1689T>C n.1073T>C c.1749T>C (p.Tyr583=) c.1908T>C (p.Tyr636=) c.4038T>C (p.Tyr1346=) c.4158T>C (p.Tyr1386=) c.3237T>C (p.Tyr1079=) c.3057T>C (p.Tyr1019=) c.2817T>C (p.Tyr939=) c.2436T>C (p.Tyr812=) c.1299T>C (p.Tyr433=) c.4368T>C (p.Tyr1456=) c.4269T>C (p.Tyr1423=) c.4239T>C (p.Tyr1413=) c.4209T>C (p.Tyr1403=) c.4080T>C (p.Tyr1360=) c.4059T>C (p.Tyr1353=) n.4427-1870T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.157198835T>G | CA366239599 | ARID1B | c.4248T>G (p.Tyr1416Ter) c.4317T>G (p.Tyr1439Ter) c.4536T>G (p.Tyr1512Ter) c.4287T>G (p.Tyr1429Ter) c.3999T>G (p.Tyr1333Ter) c.2565T>G (p.Tyr855Ter) c.1728T>G (p.Tyr576Ter) c.1359T>G (p.Tyr453Ter) n.2870T>G n.327T>G c.4407T>G (p.Tyr1469Ter) n.2404T>G c.1775T>G c.1689T>G n.1073T>G c.1749T>G (p.Tyr583Ter) c.1908T>G (p.Tyr636Ter) c.4038T>G (p.Tyr1346Ter) c.4158T>G (p.Tyr1386Ter) c.3237T>G (p.Tyr1079Ter) c.3057T>G (p.Tyr1019Ter) c.2817T>G (p.Tyr939Ter) c.2436T>G (p.Tyr812Ter) c.1299T>G (p.Tyr433Ter) c.4368T>G (p.Tyr1456Ter) c.4269T>G (p.Tyr1423Ter) c.4239T>G (p.Tyr1413Ter) c.4209T>G (p.Tyr1403Ter) c.4080T>G (p.Tyr1360Ter) c.4059T>G (p.Tyr1353Ter) n.4427-1870T>G | COSMIC COSMIC |
| 6 | g.157198835T= | CA1675542223 | ARID1B | c.4248T= (p.Tyr1416=) c.4317T= (p.Tyr1439=) c.4536T= (p.Tyr1512=) c.4287T= (p.Tyr1429=) c.3999T= (p.Tyr1333=) c.2565T= (p.Tyr855=) c.1728T= (p.Tyr576=) c.1359T= (p.Tyr453=) n.2870T= n.327T= c.4407T= (p.Tyr1469=) n.2404T= c.1775T= c.1689T= n.1073T= c.1749T= (p.Tyr583=) c.1908T= (p.Tyr636=) c.4038T= (p.Tyr1346=) c.4158T= (p.Tyr1386=) c.3237T= (p.Tyr1079=) c.3057T= (p.Tyr1019=) c.2817T= (p.Tyr939=) c.2436T= (p.Tyr812=) c.1299T= (p.Tyr433=) c.4368T= (p.Tyr1456=) c.4269T= (p.Tyr1423=) c.4239T= (p.Tyr1413=) c.4209T= (p.Tyr1403=) c.4080T= (p.Tyr1360=) c.4059T= (p.Tyr1353=) n.4427-1870T= | |
| 6 | g.157198836C>A | CA366239602 | ARID1B | c.4249C>A (p.Pro1417Thr) c.4318C>A (p.Pro1440Thr) c.4537C>A (p.Pro1513Thr) c.4288C>A (p.Pro1430Thr) c.4000C>A (p.Pro1334Thr) c.2566C>A (p.Pro856Thr) c.1729C>A (p.Pro577Thr) c.1360C>A (p.Pro454Thr) n.2871C>A n.328C>A c.4408C>A (p.Pro1470Thr) n.2405C>A c.1776C>A c.1690C>A n.1074C>A c.1750C>A (p.Pro584Thr) c.1909C>A (p.Pro637Thr) c.4039C>A (p.Pro1347Thr) c.4159C>A (p.Pro1387Thr) c.3238C>A (p.Pro1080Thr) c.3058C>A (p.Pro1020Thr) c.2818C>A (p.Pro940Thr) c.2437C>A (p.Pro813Thr) c.1300C>A (p.Pro434Thr) c.4369C>A (p.Pro1457Thr) c.4270C>A (p.Pro1424Thr) c.4240C>A (p.Pro1414Thr) c.4210C>A (p.Pro1404Thr) c.4081C>A (p.Pro1361Thr) c.4060C>A (p.Pro1354Thr) n.4427-1869C>A | dbSNP |
| 6 | g.157198836C>G | CA366239603 | ARID1B | c.4249C>G (p.Pro1417Ala) c.4318C>G (p.Pro1440Ala) c.4537C>G (p.Pro1513Ala) c.4288C>G (p.Pro1430Ala) c.4000C>G (p.Pro1334Ala) c.2566C>G (p.Pro856Ala) c.1729C>G (p.Pro577Ala) c.1360C>G (p.Pro454Ala) n.2871C>G n.328C>G c.4408C>G (p.Pro1470Ala) n.2405C>G c.1776C>G c.1690C>G n.1074C>G c.1750C>G (p.Pro584Ala) c.1909C>G (p.Pro637Ala) c.4039C>G (p.Pro1347Ala) c.4159C>G (p.Pro1387Ala) c.3238C>G (p.Pro1080Ala) c.3058C>G (p.Pro1020Ala) c.2818C>G (p.Pro940Ala) c.2437C>G (p.Pro813Ala) c.1300C>G (p.Pro434Ala) c.4369C>G (p.Pro1457Ala) c.4270C>G (p.Pro1424Ala) c.4240C>G (p.Pro1414Ala) c.4210C>G (p.Pro1404Ala) c.4081C>G (p.Pro1361Ala) c.4060C>G (p.Pro1354Ala) n.4427-1869C>G | dbSNP |
| 6 | g.157198836C>T | CA366239606 | ARID1B | c.4249C>T (p.Pro1417Ser) c.4318C>T (p.Pro1440Ser) c.4537C>T (p.Pro1513Ser) c.4288C>T (p.Pro1430Ser) c.4000C>T (p.Pro1334Ser) c.2566C>T (p.Pro856Ser) c.1729C>T (p.Pro577Ser) c.1360C>T (p.Pro454Ser) n.2871C>T n.328C>T c.4408C>T (p.Pro1470Ser) n.2405C>T c.1776C>T c.1690C>T n.1074C>T c.1750C>T (p.Pro584Ser) c.1909C>T (p.Pro637Ser) c.4039C>T (p.Pro1347Ser) c.4159C>T (p.Pro1387Ser) c.3238C>T (p.Pro1080Ser) c.3058C>T (p.Pro1020Ser) c.2818C>T (p.Pro940Ser) c.2437C>T (p.Pro813Ser) c.1300C>T (p.Pro434Ser) c.4369C>T (p.Pro1457Ser) c.4270C>T (p.Pro1424Ser) c.4240C>T (p.Pro1414Ser) c.4210C>T (p.Pro1404Ser) c.4081C>T (p.Pro1361Ser) c.4060C>T (p.Pro1354Ser) n.4427-1869C>T | dbSNP |
| 6 | g.157198837C>A | CA366239611 | ARID1B | c.4250C>A (p.Pro1417Gln) c.4319C>A (p.Pro1440Gln) c.4538C>A (p.Pro1513Gln) c.4289C>A (p.Pro1430Gln) c.4001C>A (p.Pro1334Gln) c.2567C>A (p.Pro856Gln) c.1730C>A (p.Pro577Gln) c.1361C>A (p.Pro454Gln) n.2872C>A n.329C>A c.4409C>A (p.Pro1470Gln) n.2406C>A c.1777C>A c.1691C>A n.1075C>A c.1751C>A (p.Pro584Gln) c.1910C>A (p.Pro637Gln) c.4040C>A (p.Pro1347Gln) c.4160C>A (p.Pro1387Gln) c.3239C>A (p.Pro1080Gln) c.3059C>A (p.Pro1020Gln) c.2819C>A (p.Pro940Gln) c.2438C>A (p.Pro813Gln) c.1301C>A (p.Pro434Gln) c.4370C>A (p.Pro1457Gln) c.4271C>A (p.Pro1424Gln) c.4241C>A (p.Pro1414Gln) c.4211C>A (p.Pro1404Gln) c.4082C>A (p.Pro1361Gln) c.4061C>A (p.Pro1354Gln) n.4427-1868C>A | |
| 6 | g.157198837C>G | CA366239618 | ARID1B | c.4250C>G (p.Pro1417Arg) c.4319C>G (p.Pro1440Arg) c.4538C>G (p.Pro1513Arg) c.4289C>G (p.Pro1430Arg) c.4001C>G (p.Pro1334Arg) c.2567C>G (p.Pro856Arg) c.1730C>G (p.Pro577Arg) c.1361C>G (p.Pro454Arg) n.2872C>G n.329C>G c.4409C>G (p.Pro1470Arg) n.2406C>G c.1777C>G c.1691C>G n.1075C>G c.1751C>G (p.Pro584Arg) c.1910C>G (p.Pro637Arg) c.4040C>G (p.Pro1347Arg) c.4160C>G (p.Pro1387Arg) c.3239C>G (p.Pro1080Arg) c.3059C>G (p.Pro1020Arg) c.2819C>G (p.Pro940Arg) c.2438C>G (p.Pro813Arg) c.1301C>G (p.Pro434Arg) c.4370C>G (p.Pro1457Arg) c.4271C>G (p.Pro1424Arg) c.4241C>G (p.Pro1414Arg) c.4211C>G (p.Pro1404Arg) c.4082C>G (p.Pro1361Arg) c.4061C>G (p.Pro1354Arg) n.4427-1868C>G | |
| 6 | g.157198837C>T | CA366239609 | ARID1B | c.4250C>T (p.Pro1417Leu) c.4319C>T (p.Pro1440Leu) c.4538C>T (p.Pro1513Leu) c.4289C>T (p.Pro1430Leu) c.4001C>T (p.Pro1334Leu) c.2567C>T (p.Pro856Leu) c.1730C>T (p.Pro577Leu) c.1361C>T (p.Pro454Leu) n.2872C>T n.329C>T c.4409C>T (p.Pro1470Leu) n.2406C>T c.1777C>T c.1691C>T n.1075C>T c.1751C>T (p.Pro584Leu) c.1910C>T (p.Pro637Leu) c.4040C>T (p.Pro1347Leu) c.4160C>T (p.Pro1387Leu) c.3239C>T (p.Pro1080Leu) c.3059C>T (p.Pro1020Leu) c.2819C>T (p.Pro940Leu) c.2438C>T (p.Pro813Leu) c.1301C>T (p.Pro434Leu) c.4370C>T (p.Pro1457Leu) c.4271C>T (p.Pro1424Leu) c.4241C>T (p.Pro1414Leu) c.4211C>T (p.Pro1404Leu) c.4082C>T (p.Pro1361Leu) c.4061C>T (p.Pro1354Leu) n.4427-1868C>T | |
| 6 | g.157198838A>C | CA452783925 | ARID1B | c.4251A>C (p.Pro1417=) c.4320A>C (p.Pro1440=) c.4539A>C (p.Pro1513=) c.4290A>C (p.Pro1430=) c.4002A>C (p.Pro1334=) c.2568A>C (p.Pro856=) c.1731A>C (p.Pro577=) c.1362A>C (p.Pro454=) n.2873A>C n.330A>C c.4410A>C (p.Pro1470=) n.2407A>C c.1778A>C c.1692A>C n.1076A>C c.1752A>C (p.Pro584=) c.1911A>C (p.Pro637=) c.4041A>C (p.Pro1347=) c.4161A>C (p.Pro1387=) c.3240A>C (p.Pro1080=) c.3060A>C (p.Pro1020=) c.2820A>C (p.Pro940=) c.2439A>C (p.Pro813=) c.1302A>C (p.Pro434=) c.4371A>C (p.Pro1457=) c.4272A>C (p.Pro1424=) c.4242A>C (p.Pro1414=) c.4212A>C (p.Pro1404=) c.4083A>C (p.Pro1361=) c.4062A>C (p.Pro1354=) n.4427-1867A>C | gnomAD v4 |
| 6 | g.157198838A>G | CA452783927 | ARID1B | c.4251A>G (p.Pro1417=) c.4320A>G (p.Pro1440=) c.4539A>G (p.Pro1513=) c.4290A>G (p.Pro1430=) c.4002A>G (p.Pro1334=) c.2568A>G (p.Pro856=) c.1731A>G (p.Pro577=) c.1362A>G (p.Pro454=) n.2873A>G n.330A>G c.4410A>G (p.Pro1470=) n.2407A>G c.1778A>G c.1692A>G n.1076A>G c.1752A>G (p.Pro584=) c.1911A>G (p.Pro637=) c.4041A>G (p.Pro1347=) c.4161A>G (p.Pro1387=) c.3240A>G (p.Pro1080=) c.3060A>G (p.Pro1020=) c.2820A>G (p.Pro940=) c.2439A>G (p.Pro813=) c.1302A>G (p.Pro434=) c.4371A>G (p.Pro1457=) c.4272A>G (p.Pro1424=) c.4242A>G (p.Pro1414=) c.4212A>G (p.Pro1404=) c.4083A>G (p.Pro1361=) c.4062A>G (p.Pro1354=) n.4427-1867A>G | dbSNP |
| 6 | g.157198838A>T | CA452783926 | ARID1B | c.4251A>T (p.Pro1417=) c.4320A>T (p.Pro1440=) c.4539A>T (p.Pro1513=) c.4290A>T (p.Pro1430=) c.4002A>T (p.Pro1334=) c.2568A>T (p.Pro856=) c.1731A>T (p.Pro577=) c.1362A>T (p.Pro454=) n.2873A>T n.330A>T c.4410A>T (p.Pro1470=) n.2407A>T c.1778A>T c.1692A>T n.1076A>T c.1752A>T (p.Pro584=) c.1911A>T (p.Pro637=) c.4041A>T (p.Pro1347=) c.4161A>T (p.Pro1387=) c.3240A>T (p.Pro1080=) c.3060A>T (p.Pro1020=) c.2820A>T (p.Pro940=) c.2439A>T (p.Pro813=) c.1302A>T (p.Pro434=) c.4371A>T (p.Pro1457=) c.4272A>T (p.Pro1424=) c.4242A>T (p.Pro1414=) c.4212A>T (p.Pro1404=) c.4083A>T (p.Pro1361=) c.4062A>T (p.Pro1354=) n.4427-1867A>T | dbSNP |
| 6 | g.157198839G>A | CA366239622 | ARID1B | c.4252G>A (p.Gly1418Ser) c.4321G>A (p.Gly1441Ser) c.4540G>A (p.Gly1514Ser) c.4291G>A (p.Gly1431Ser) c.4003G>A (p.Gly1335Ser) c.2569G>A (p.Gly857Ser) c.1732G>A (p.Gly578Ser) c.1363G>A (p.Gly455Ser) n.2874G>A n.331G>A c.4411G>A (p.Gly1471Ser) n.2408G>A c.1779G>A c.1693G>A n.1077G>A c.1753G>A (p.Gly585Ser) c.1912G>A (p.Gly638Ser) c.4042G>A (p.Gly1348Ser) c.4162G>A (p.Gly1388Ser) c.3241G>A (p.Gly1081Ser) c.3061G>A (p.Gly1021Ser) c.2821G>A (p.Gly941Ser) c.2440G>A (p.Gly814Ser) c.1303G>A (p.Gly435Ser) c.4372G>A (p.Gly1458Ser) c.4273G>A (p.Gly1425Ser) c.4243G>A (p.Gly1415Ser) c.4213G>A (p.Gly1405Ser) c.4084G>A (p.Gly1362Ser) c.4063G>A (p.Gly1355Ser) n.4427-1866G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157198839G>C | CA366239624 | ARID1B | c.4252G>C (p.Gly1418Arg) c.4321G>C (p.Gly1441Arg) c.4540G>C (p.Gly1514Arg) c.4291G>C (p.Gly1431Arg) c.4003G>C (p.Gly1335Arg) c.2569G>C (p.Gly857Arg) c.1732G>C (p.Gly578Arg) c.1363G>C (p.Gly455Arg) n.2874G>C n.331G>C c.4411G>C (p.Gly1471Arg) n.2408G>C c.1779G>C c.1693G>C n.1077G>C c.1753G>C (p.Gly585Arg) c.1912G>C (p.Gly638Arg) c.4042G>C (p.Gly1348Arg) c.4162G>C (p.Gly1388Arg) c.3241G>C (p.Gly1081Arg) c.3061G>C (p.Gly1021Arg) c.2821G>C (p.Gly941Arg) c.2440G>C (p.Gly814Arg) c.1303G>C (p.Gly435Arg) c.4372G>C (p.Gly1458Arg) c.4273G>C (p.Gly1425Arg) c.4243G>C (p.Gly1415Arg) c.4213G>C (p.Gly1405Arg) c.4084G>C (p.Gly1362Arg) c.4063G>C (p.Gly1355Arg) n.4427-1866G>C | dbSNP |
| 6 | g.157198839G= | CA1675542224 | ARID1B | c.4252G= (p.Gly1418=) c.4321G= (p.Gly1441=) c.4540G= (p.Gly1514=) c.4291G= (p.Gly1431=) c.4003G= (p.Gly1335=) c.2569G= (p.Gly857=) c.1732G= (p.Gly578=) c.1363G= (p.Gly455=) n.2874G= n.331G= c.4411G= (p.Gly1471=) n.2408G= c.1779G= c.1693G= n.1077G= c.1753G= (p.Gly585=) c.1912G= (p.Gly638=) c.4042G= (p.Gly1348=) c.4162G= (p.Gly1388=) c.3241G= (p.Gly1081=) c.3061G= (p.Gly1021=) c.2821G= (p.Gly941=) c.2440G= (p.Gly814=) c.1303G= (p.Gly435=) c.4372G= (p.Gly1458=) c.4273G= (p.Gly1425=) c.4243G= (p.Gly1415=) c.4213G= (p.Gly1405=) c.4084G= (p.Gly1362=) c.4063G= (p.Gly1355=) n.4427-1866G= | |
| 6 | g.157198839G>T | CA366239627 | ARID1B | c.4252G>T (p.Gly1418Cys) c.4321G>T (p.Gly1441Cys) c.4540G>T (p.Gly1514Cys) c.4291G>T (p.Gly1431Cys) c.4003G>T (p.Gly1335Cys) c.2569G>T (p.Gly857Cys) c.1732G>T (p.Gly578Cys) c.1363G>T (p.Gly455Cys) n.2874G>T n.331G>T c.4411G>T (p.Gly1471Cys) n.2408G>T c.1779G>T c.1693G>T n.1077G>T c.1753G>T (p.Gly585Cys) c.1912G>T (p.Gly638Cys) c.4042G>T (p.Gly1348Cys) c.4162G>T (p.Gly1388Cys) c.3241G>T (p.Gly1081Cys) c.3061G>T (p.Gly1021Cys) c.2821G>T (p.Gly941Cys) c.2440G>T (p.Gly814Cys) c.1303G>T (p.Gly435Cys) c.4372G>T (p.Gly1458Cys) c.4273G>T (p.Gly1425Cys) c.4243G>T (p.Gly1415Cys) c.4213G>T (p.Gly1405Cys) c.4084G>T (p.Gly1362Cys) c.4063G>T (p.Gly1355Cys) n.4427-1866G>T | dbSNP |
| 6 | g.157198840G>A | CA366239630 | ARID1B | c.4253G>A (p.Gly1418Asp) c.4322G>A (p.Gly1441Asp) c.4541G>A (p.Gly1514Asp) c.4292G>A (p.Gly1431Asp) c.4004G>A (p.Gly1335Asp) c.2570G>A (p.Gly857Asp) c.1733G>A (p.Gly578Asp) c.1364G>A (p.Gly455Asp) n.2875G>A n.332G>A c.4412G>A (p.Gly1471Asp) n.2409G>A c.1780G>A c.1694G>A n.1078G>A c.1754G>A (p.Gly585Asp) c.1913G>A (p.Gly638Asp) c.4043G>A (p.Gly1348Asp) c.4163G>A (p.Gly1388Asp) c.3242G>A (p.Gly1081Asp) c.3062G>A (p.Gly1021Asp) c.2822G>A (p.Gly941Asp) c.2441G>A (p.Gly814Asp) c.1304G>A (p.Gly435Asp) c.4373G>A (p.Gly1458Asp) c.4274G>A (p.Gly1425Asp) c.4244G>A (p.Gly1415Asp) c.4214G>A (p.Gly1405Asp) c.4085G>A (p.Gly1362Asp) c.4064G>A (p.Gly1355Asp) n.4427-1865G>A | dbSNP gnomAD v4 |
| 6 | g.157198840G>C | CA366239633 | ARID1B | c.4253G>C (p.Gly1418Ala) c.4322G>C (p.Gly1441Ala) c.4541G>C (p.Gly1514Ala) c.4292G>C (p.Gly1431Ala) c.4004G>C (p.Gly1335Ala) c.2570G>C (p.Gly857Ala) c.1733G>C (p.Gly578Ala) c.1364G>C (p.Gly455Ala) n.2875G>C n.332G>C c.4412G>C (p.Gly1471Ala) n.2409G>C c.1780G>C c.1694G>C n.1078G>C c.1754G>C (p.Gly585Ala) c.1913G>C (p.Gly638Ala) c.4043G>C (p.Gly1348Ala) c.4163G>C (p.Gly1388Ala) c.3242G>C (p.Gly1081Ala) c.3062G>C (p.Gly1021Ala) c.2822G>C (p.Gly941Ala) c.2441G>C (p.Gly814Ala) c.1304G>C (p.Gly435Ala) c.4373G>C (p.Gly1458Ala) c.4274G>C (p.Gly1425Ala) c.4244G>C (p.Gly1415Ala) c.4214G>C (p.Gly1405Ala) c.4085G>C (p.Gly1362Ala) c.4064G>C (p.Gly1355Ala) n.4427-1865G>C | dbSNP |
| 6 | g.157198840G>T | CA366239637 | ARID1B | c.4253G>T (p.Gly1418Val) c.4322G>T (p.Gly1441Val) c.4541G>T (p.Gly1514Val) c.4292G>T (p.Gly1431Val) c.4004G>T (p.Gly1335Val) c.2570G>T (p.Gly857Val) c.1733G>T (p.Gly578Val) c.1364G>T (p.Gly455Val) n.2875G>T n.332G>T c.4412G>T (p.Gly1471Val) n.2409G>T c.1780G>T c.1694G>T n.1078G>T c.1754G>T (p.Gly585Val) c.1913G>T (p.Gly638Val) c.4043G>T (p.Gly1348Val) c.4163G>T (p.Gly1388Val) c.3242G>T (p.Gly1081Val) c.3062G>T (p.Gly1021Val) c.2822G>T (p.Gly941Val) c.2441G>T (p.Gly814Val) c.1304G>T (p.Gly435Val) c.4373G>T (p.Gly1458Val) c.4274G>T (p.Gly1425Val) c.4244G>T (p.Gly1415Val) c.4214G>T (p.Gly1405Val) c.4085G>T (p.Gly1362Val) c.4064G>T (p.Gly1355Val) n.4427-1865G>T | |
| 6 | g.157198841C>A | CA452783928 | ARID1B | c.4254C>A (p.Gly1418=) c.4323C>A (p.Gly1441=) c.4542C>A (p.Gly1514=) c.4293C>A (p.Gly1431=) c.4005C>A (p.Gly1335=) c.2571C>A (p.Gly857=) c.1734C>A (p.Gly578=) c.1365C>A (p.Gly455=) n.2876C>A n.333C>A c.4413C>A (p.Gly1471=) n.2410C>A c.1781C>A c.1695C>A n.1079C>A c.1755C>A (p.Gly585=) c.1914C>A (p.Gly638=) c.4044C>A (p.Gly1348=) c.4164C>A (p.Gly1388=) c.3243C>A (p.Gly1081=) c.3063C>A (p.Gly1021=) c.2823C>A (p.Gly941=) c.2442C>A (p.Gly814=) c.1305C>A (p.Gly435=) c.4374C>A (p.Gly1458=) c.4275C>A (p.Gly1425=) c.4245C>A (p.Gly1415=) c.4215C>A (p.Gly1405=) c.4086C>A (p.Gly1362=) c.4065C>A (p.Gly1355=) n.4427-1864C>A | dbSNP |
| 6 | g.157198841C= | CA1675542225 | ARID1B | c.4254C= (p.Gly1418=) c.4323C= (p.Gly1441=) c.4542C= (p.Gly1514=) c.4293C= (p.Gly1431=) c.4005C= (p.Gly1335=) c.2571C= (p.Gly857=) c.1734C= (p.Gly578=) c.1365C= (p.Gly455=) n.2876C= n.333C= c.4413C= (p.Gly1471=) n.2410C= c.1781C= c.1695C= n.1079C= c.1755C= (p.Gly585=) c.1914C= (p.Gly638=) c.4044C= (p.Gly1348=) c.4164C= (p.Gly1388=) c.3243C= (p.Gly1081=) c.3063C= (p.Gly1021=) c.2823C= (p.Gly941=) c.2442C= (p.Gly814=) c.1305C= (p.Gly435=) c.4374C= (p.Gly1458=) c.4275C= (p.Gly1425=) c.4245C= (p.Gly1415=) c.4215C= (p.Gly1405=) c.4086C= (p.Gly1362=) c.4065C= (p.Gly1355=) n.4427-1864C= | |
| 6 | g.157198841C>G | CA452783929 | ARID1B | c.4254C>G (p.Gly1418=) c.4323C>G (p.Gly1441=) c.4542C>G (p.Gly1514=) c.4293C>G (p.Gly1431=) c.4005C>G (p.Gly1335=) c.2571C>G (p.Gly857=) c.1734C>G (p.Gly578=) c.1365C>G (p.Gly455=) n.2876C>G n.333C>G c.4413C>G (p.Gly1471=) n.2410C>G c.1781C>G c.1695C>G n.1079C>G c.1755C>G (p.Gly585=) c.1914C>G (p.Gly638=) c.4044C>G (p.Gly1348=) c.4164C>G (p.Gly1388=) c.3243C>G (p.Gly1081=) c.3063C>G (p.Gly1021=) c.2823C>G (p.Gly941=) c.2442C>G (p.Gly814=) c.1305C>G (p.Gly435=) c.4374C>G (p.Gly1458=) c.4275C>G (p.Gly1425=) c.4245C>G (p.Gly1415=) c.4215C>G (p.Gly1405=) c.4086C>G (p.Gly1362=) c.4065C>G (p.Gly1355=) n.4427-1864C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157198841C>T | CA452783930 | ARID1B | c.4254C>T (p.Gly1418=) c.4323C>T (p.Gly1441=) c.4542C>T (p.Gly1514=) c.4293C>T (p.Gly1431=) c.4005C>T (p.Gly1335=) c.2571C>T (p.Gly857=) c.1734C>T (p.Gly578=) c.1365C>T (p.Gly455=) n.2876C>T n.333C>T c.4413C>T (p.Gly1471=) n.2410C>T c.1781C>T c.1695C>T n.1079C>T c.1755C>T (p.Gly585=) c.1914C>T (p.Gly638=) c.4044C>T (p.Gly1348=) c.4164C>T (p.Gly1388=) c.3243C>T (p.Gly1081=) c.3063C>T (p.Gly1021=) c.2823C>T (p.Gly941=) c.2442C>T (p.Gly814=) c.1305C>T (p.Gly435=) c.4374C>T (p.Gly1458=) c.4275C>T (p.Gly1425=) c.4245C>T (p.Gly1415=) c.4215C>T (p.Gly1405=) c.4086C>T (p.Gly1362=) c.4065C>T (p.Gly1355=) n.4427-1864C>T | |
| 6 | g.157198842C>A | CA366239655 | ARID1B | c.4255C>A (p.Gln1419Lys) c.4324C>A (p.Gln1442Lys) c.4543C>A (p.Gln1515Lys) c.4294C>A (p.Gln1432Lys) c.4006C>A (p.Gln1336Lys) c.2572C>A (p.Gln858Lys) c.1735C>A (p.Gln579Lys) c.1366C>A (p.Gln456Lys) n.2877C>A n.334C>A c.4414C>A (p.Gln1472Lys) n.2411C>A c.1782C>A c.1696C>A n.1080C>A c.1756C>A (p.Gln586Lys) c.1915C>A (p.Gln639Lys) c.4045C>A (p.Gln1349Lys) c.4165C>A (p.Gln1389Lys) c.3244C>A (p.Gln1082Lys) c.3064C>A (p.Gln1022Lys) c.2824C>A (p.Gln942Lys) c.2443C>A (p.Gln815Lys) c.1306C>A (p.Gln436Lys) c.4375C>A (p.Gln1459Lys) c.4276C>A (p.Gln1426Lys) c.4246C>A (p.Gln1416Lys) c.4216C>A (p.Gln1406Lys) c.4087C>A (p.Gln1363Lys) c.4066C>A (p.Gln1356Lys) n.4427-1863C>A | |
| 6 | g.157198842C= | CA1675542226 | ARID1B | c.4255C= (p.Gln1419=) c.4324C= (p.Gln1442=) c.4543C= (p.Gln1515=) c.4294C= (p.Gln1432=) c.4006C= (p.Gln1336=) c.2572C= (p.Gln858=) c.1735C= (p.Gln579=) c.1366C= (p.Gln456=) n.2877C= n.334C= c.4414C= (p.Gln1472=) n.2411C= c.1782C= c.1696C= n.1080C= c.1756C= (p.Gln586=) c.1915C= (p.Gln639=) c.4045C= (p.Gln1349=) c.4165C= (p.Gln1389=) c.3244C= (p.Gln1082=) c.3064C= (p.Gln1022=) c.2824C= (p.Gln942=) c.2443C= (p.Gln815=) c.1306C= (p.Gln436=) c.4375C= (p.Gln1459=) c.4276C= (p.Gln1426=) c.4246C= (p.Gln1416=) c.4216C= (p.Gln1406=) c.4087C= (p.Gln1363=) c.4066C= (p.Gln1356=) n.4427-1863C= | |
| 6 | g.157198842C>G | CA366239639 | ARID1B | c.4255C>G (p.Gln1419Glu) c.4324C>G (p.Gln1442Glu) c.4543C>G (p.Gln1515Glu) c.4294C>G (p.Gln1432Glu) c.4006C>G (p.Gln1336Glu) c.2572C>G (p.Gln858Glu) c.1735C>G (p.Gln579Glu) c.1366C>G (p.Gln456Glu) n.2877C>G n.334C>G c.4414C>G (p.Gln1472Glu) n.2411C>G c.1782C>G c.1696C>G n.1080C>G c.1756C>G (p.Gln586Glu) c.1915C>G (p.Gln639Glu) c.4045C>G (p.Gln1349Glu) c.4165C>G (p.Gln1389Glu) c.3244C>G (p.Gln1082Glu) c.3064C>G (p.Gln1022Glu) c.2824C>G (p.Gln942Glu) c.2443C>G (p.Gln815Glu) c.1306C>G (p.Gln436Glu) c.4375C>G (p.Gln1459Glu) c.4276C>G (p.Gln1426Glu) c.4246C>G (p.Gln1416Glu) c.4216C>G (p.Gln1406Glu) c.4087C>G (p.Gln1363Glu) c.4066C>G (p.Gln1356Glu) n.4427-1863C>G | dbSNP |
| 6 | g.157198842C>T | CA366239651 | ARID1B | c.4255C>T (p.Gln1419Ter) c.4324C>T (p.Gln1442Ter) c.4543C>T (p.Gln1515Ter) c.4294C>T (p.Gln1432Ter) c.4006C>T (p.Gln1336Ter) c.2572C>T (p.Gln858Ter) c.1735C>T (p.Gln579Ter) c.1366C>T (p.Gln456Ter) n.2877C>T n.334C>T c.4414C>T (p.Gln1472Ter) n.2411C>T c.1782C>T c.1696C>T n.1080C>T c.1756C>T (p.Gln586Ter) c.1915C>T (p.Gln639Ter) c.4045C>T (p.Gln1349Ter) c.4165C>T (p.Gln1389Ter) c.3244C>T (p.Gln1082Ter) c.3064C>T (p.Gln1022Ter) c.2824C>T (p.Gln942Ter) c.2443C>T (p.Gln815Ter) c.1306C>T (p.Gln436Ter) c.4375C>T (p.Gln1459Ter) c.4276C>T (p.Gln1426Ter) c.4246C>T (p.Gln1416Ter) c.4216C>T (p.Gln1406Ter) c.4087C>T (p.Gln1363Ter) c.4066C>T (p.Gln1356Ter) n.4427-1863C>T | dbSNP |
| 6 | g.157198843A>C | CA366239658 | ARID1B | c.4256A>C (p.Gln1419Pro) c.4325A>C (p.Gln1442Pro) c.4544A>C (p.Gln1515Pro) c.4295A>C (p.Gln1432Pro) c.4007A>C (p.Gln1336Pro) c.2573A>C (p.Gln858Pro) c.1736A>C (p.Gln579Pro) c.1367A>C (p.Gln456Pro) n.2878A>C n.335A>C c.4415A>C (p.Gln1472Pro) n.2412A>C c.1783A>C c.1697A>C n.1081A>C c.1757A>C (p.Gln586Pro) c.1916A>C (p.Gln639Pro) c.4046A>C (p.Gln1349Pro) c.4166A>C (p.Gln1389Pro) c.3245A>C (p.Gln1082Pro) c.3065A>C (p.Gln1022Pro) c.2825A>C (p.Gln942Pro) c.2444A>C (p.Gln815Pro) c.1307A>C (p.Gln436Pro) c.4376A>C (p.Gln1459Pro) c.4277A>C (p.Gln1426Pro) c.4247A>C (p.Gln1416Pro) c.4217A>C (p.Gln1406Pro) c.4088A>C (p.Gln1363Pro) c.4067A>C (p.Gln1356Pro) n.4427-1862A>C | dbSNP |
| 6 | g.157198843A>G | CA366239661 | ARID1B | c.4256A>G (p.Gln1419Arg) c.4325A>G (p.Gln1442Arg) c.4544A>G (p.Gln1515Arg) c.4295A>G (p.Gln1432Arg) c.4007A>G (p.Gln1336Arg) c.2573A>G (p.Gln858Arg) c.1736A>G (p.Gln579Arg) c.1367A>G (p.Gln456Arg) n.2878A>G n.335A>G c.4415A>G (p.Gln1472Arg) n.2412A>G c.1783A>G c.1697A>G n.1081A>G c.1757A>G (p.Gln586Arg) c.1916A>G (p.Gln639Arg) c.4046A>G (p.Gln1349Arg) c.4166A>G (p.Gln1389Arg) c.3245A>G (p.Gln1082Arg) c.3065A>G (p.Gln1022Arg) c.2825A>G (p.Gln942Arg) c.2444A>G (p.Gln815Arg) c.1307A>G (p.Gln436Arg) c.4376A>G (p.Gln1459Arg) c.4277A>G (p.Gln1426Arg) c.4247A>G (p.Gln1416Arg) c.4217A>G (p.Gln1406Arg) c.4088A>G (p.Gln1363Arg) c.4067A>G (p.Gln1356Arg) n.4427-1862A>G | |
| 6 | g.157198843A>T | CA366239663 | ARID1B | c.4256A>T (p.Gln1419Leu) c.4325A>T (p.Gln1442Leu) c.4544A>T (p.Gln1515Leu) c.4295A>T (p.Gln1432Leu) c.4007A>T (p.Gln1336Leu) c.2573A>T (p.Gln858Leu) c.1736A>T (p.Gln579Leu) c.1367A>T (p.Gln456Leu) n.2878A>T n.335A>T c.4415A>T (p.Gln1472Leu) n.2412A>T c.1783A>T c.1697A>T n.1081A>T c.1757A>T (p.Gln586Leu) c.1916A>T (p.Gln639Leu) c.4046A>T (p.Gln1349Leu) c.4166A>T (p.Gln1389Leu) c.3245A>T (p.Gln1082Leu) c.3065A>T (p.Gln1022Leu) c.2825A>T (p.Gln942Leu) c.2444A>T (p.Gln815Leu) c.1307A>T (p.Gln436Leu) c.4376A>T (p.Gln1459Leu) c.4277A>T (p.Gln1426Leu) c.4247A>T (p.Gln1416Leu) c.4217A>T (p.Gln1406Leu) c.4088A>T (p.Gln1363Leu) c.4067A>T (p.Gln1356Leu) n.4427-1862A>T | |
| 6 | g.157198844A>C | CA366239666 | ARID1B | c.4257A>C (p.Gln1419His) c.4326A>C (p.Gln1442His) c.4545A>C (p.Gln1515His) c.4296A>C (p.Gln1432His) c.4008A>C (p.Gln1336His) c.2574A>C (p.Gln858His) c.1737A>C (p.Gln579His) c.1368A>C (p.Gln456His) n.2879A>C n.336A>C c.4416A>C (p.Gln1472His) n.2413A>C c.1784A>C c.1698A>C n.1082A>C c.1758A>C (p.Gln586His) c.1917A>C (p.Gln639His) c.4047A>C (p.Gln1349His) c.4167A>C (p.Gln1389His) c.3246A>C (p.Gln1082His) c.3066A>C (p.Gln1022His) c.2826A>C (p.Gln942His) c.2445A>C (p.Gln815His) c.1308A>C (p.Gln436His) c.4377A>C (p.Gln1459His) c.4278A>C (p.Gln1426His) c.4248A>C (p.Gln1416His) c.4218A>C (p.Gln1406His) c.4089A>C (p.Gln1363His) c.4068A>C (p.Gln1356His) n.4427-1861A>C | dbSNP gnomAD v4 |
| 6 | g.157198844A>G | CA452783931 | ARID1B | c.4257A>G (p.Gln1419=) c.4326A>G (p.Gln1442=) c.4545A>G (p.Gln1515=) c.4296A>G (p.Gln1432=) c.4008A>G (p.Gln1336=) c.2574A>G (p.Gln858=) c.1737A>G (p.Gln579=) c.1368A>G (p.Gln456=) n.2879A>G n.336A>G c.4416A>G (p.Gln1472=) n.2413A>G c.1784A>G c.1698A>G n.1082A>G c.1758A>G (p.Gln586=) c.1917A>G (p.Gln639=) c.4047A>G (p.Gln1349=) c.4167A>G (p.Gln1389=) c.3246A>G (p.Gln1082=) c.3066A>G (p.Gln1022=) c.2826A>G (p.Gln942=) c.2445A>G (p.Gln815=) c.1308A>G (p.Gln436=) c.4377A>G (p.Gln1459=) c.4278A>G (p.Gln1426=) c.4248A>G (p.Gln1416=) c.4218A>G (p.Gln1406=) c.4089A>G (p.Gln1363=) c.4068A>G (p.Gln1356=) n.4427-1861A>G | dbSNP |
| 6 | g.157198844A>T | CA366239667 | ARID1B | c.4257A>T (p.Gln1419His) c.4326A>T (p.Gln1442His) c.4545A>T (p.Gln1515His) c.4296A>T (p.Gln1432His) c.4008A>T (p.Gln1336His) c.2574A>T (p.Gln858His) c.1737A>T (p.Gln579His) c.1368A>T (p.Gln456His) n.2879A>T n.336A>T c.4416A>T (p.Gln1472His) n.2413A>T c.1784A>T c.1698A>T n.1082A>T c.1758A>T (p.Gln586His) c.1917A>T (p.Gln639His) c.4047A>T (p.Gln1349His) c.4167A>T (p.Gln1389His) c.3246A>T (p.Gln1082His) c.3066A>T (p.Gln1022His) c.2826A>T (p.Gln942His) c.2445A>T (p.Gln815His) c.1308A>T (p.Gln436His) c.4377A>T (p.Gln1459His) c.4278A>T (p.Gln1426His) c.4248A>T (p.Gln1416His) c.4218A>T (p.Gln1406His) c.4089A>T (p.Gln1363His) c.4068A>T (p.Gln1356His) n.4427-1861A>T | dbSNP |
| 6 | g.157198845G>A | CA366239670 | ARID1B | c.4258G>A (p.Gly1420Ser) c.4327G>A (p.Gly1443Ser) c.4546G>A (p.Gly1516Ser) c.4297G>A (p.Gly1433Ser) c.4009G>A (p.Gly1337Ser) c.2575G>A (p.Gly859Ser) c.1738G>A (p.Gly580Ser) c.1369G>A (p.Gly457Ser) n.2880G>A n.337G>A c.4417G>A (p.Gly1473Ser) n.2414G>A c.1785G>A c.1699G>A n.1083G>A c.1759G>A (p.Gly587Ser) c.1918G>A (p.Gly640Ser) c.4048G>A (p.Gly1350Ser) c.4168G>A (p.Gly1390Ser) c.3247G>A (p.Gly1083Ser) c.3067G>A (p.Gly1023Ser) c.2827G>A (p.Gly943Ser) c.2446G>A (p.Gly816Ser) c.1309G>A (p.Gly437Ser) c.4378G>A (p.Gly1460Ser) c.4279G>A (p.Gly1427Ser) c.4249G>A (p.Gly1417Ser) c.4219G>A (p.Gly1407Ser) c.4090G>A (p.Gly1364Ser) c.4069G>A (p.Gly1357Ser) n.4427-1860G>A | dbSNP |
| 6 | g.157198845G>C | CA366239672 | ARID1B | c.4258G>C (p.Gly1420Arg) c.4327G>C (p.Gly1443Arg) c.4546G>C (p.Gly1516Arg) c.4297G>C (p.Gly1433Arg) c.4009G>C (p.Gly1337Arg) c.2575G>C (p.Gly859Arg) c.1738G>C (p.Gly580Arg) c.1369G>C (p.Gly457Arg) n.2880G>C n.337G>C c.4417G>C (p.Gly1473Arg) n.2414G>C c.1785G>C c.1699G>C n.1083G>C c.1759G>C (p.Gly587Arg) c.1918G>C (p.Gly640Arg) c.4048G>C (p.Gly1350Arg) c.4168G>C (p.Gly1390Arg) c.3247G>C (p.Gly1083Arg) c.3067G>C (p.Gly1023Arg) c.2827G>C (p.Gly943Arg) c.2446G>C (p.Gly816Arg) c.1309G>C (p.Gly437Arg) c.4378G>C (p.Gly1460Arg) c.4279G>C (p.Gly1427Arg) c.4249G>C (p.Gly1417Arg) c.4219G>C (p.Gly1407Arg) c.4090G>C (p.Gly1364Arg) c.4069G>C (p.Gly1357Arg) n.4427-1860G>C | |
| 6 | g.157198845G= | CA1675542227 | ARID1B | c.4258G= (p.Gly1420=) c.4327G= (p.Gly1443=) c.4546G= (p.Gly1516=) c.4297G= (p.Gly1433=) c.4009G= (p.Gly1337=) c.2575G= (p.Gly859=) c.1738G= (p.Gly580=) c.1369G= (p.Gly457=) n.2880G= n.337G= c.4417G= (p.Gly1473=) n.2414G= c.1785G= c.1699G= n.1083G= c.1759G= (p.Gly587=) c.1918G= (p.Gly640=) c.4048G= (p.Gly1350=) c.4168G= (p.Gly1390=) c.3247G= (p.Gly1083=) c.3067G= (p.Gly1023=) c.2827G= (p.Gly943=) c.2446G= (p.Gly816=) c.1309G= (p.Gly437=) c.4378G= (p.Gly1460=) c.4279G= (p.Gly1427=) c.4249G= (p.Gly1417=) c.4219G= (p.Gly1407=) c.4090G= (p.Gly1364=) c.4069G= (p.Gly1357=) n.4427-1860G= | |
| 6 | g.157198845G>T | CA366239671 | ARID1B | c.4258G>T (p.Gly1420Cys) c.4327G>T (p.Gly1443Cys) c.4546G>T (p.Gly1516Cys) c.4297G>T (p.Gly1433Cys) c.4009G>T (p.Gly1337Cys) c.2575G>T (p.Gly859Cys) c.1738G>T (p.Gly580Cys) c.1369G>T (p.Gly457Cys) n.2880G>T n.337G>T c.4417G>T (p.Gly1473Cys) n.2414G>T c.1785G>T c.1699G>T n.1083G>T c.1759G>T (p.Gly587Cys) c.1918G>T (p.Gly640Cys) c.4048G>T (p.Gly1350Cys) c.4168G>T (p.Gly1390Cys) c.3247G>T (p.Gly1083Cys) c.3067G>T (p.Gly1023Cys) c.2827G>T (p.Gly943Cys) c.2446G>T (p.Gly816Cys) c.1309G>T (p.Gly437Cys) c.4378G>T (p.Gly1460Cys) c.4279G>T (p.Gly1427Cys) c.4249G>T (p.Gly1417Cys) c.4219G>T (p.Gly1407Cys) c.4090G>T (p.Gly1364Cys) c.4069G>T (p.Gly1357Cys) n.4427-1860G>T | dbSNP |
| 6 | g.157198845_157198846insC | CA2739289473 | ARID1B | c.4258_4259insC (p.Gly1420AlafsTer?) c.4327_4328insC (p.Gly1443AlafsTer?) c.4546_4547insC (p.Gly1516AlafsTer?) c.4297_4298insC (p.Gly1433AlafsTer?) c.4009_4010insC (p.Gly1337AlafsTer?) c.2575_2576insC (p.Gly859AlafsTer?) c.1738_1739insC (p.Gly580AlafsTer?) c.1369_1370insC (p.Gly457AlafsTer?) n.2880_2881insC n.337_338insC c.4417_4418insC (p.Gly1473AlafsTer?) n.2414_2415insC c.1785_1786insC c.1699_1700insC n.1083_1084insC c.1759_1760insC (p.Gly587AlafsTer?) c.1918_1919insC (p.Gly640AlafsTer?) c.4048_4049insC (p.Gly1350AlafsTer?) c.4168_4169insC (p.Gly1390AlafsTer?) c.3247_3248insC (p.Gly1083AlafsTer?) c.3067_3068insC (p.Gly1023AlafsTer?) c.2827_2828insC (p.Gly943AlafsTer?) c.2446_2447insC (p.Gly816AlafsTer?) c.1309_1310insC (p.Gly437AlafsTer?) c.4378_4379insC (p.Gly1460AlafsTer?) c.4279_4280insC (p.Gly1427AlafsTer?) c.4249_4250insC (p.Gly1417AlafsTer?) c.4219_4220insC (p.Gly1407AlafsTer?) c.4090_4091insC (p.Gly1364AlafsTer?) c.4069_4070insC (p.Gly1357AlafsTer?) n.4427-1860_4427-1859insC | |
| 6 | g.157198846G>A | CA366239674 | ARID1B | c.4259G>A (p.Gly1420Asp) c.4328G>A (p.Gly1443Asp) c.4547G>A (p.Gly1516Asp) c.4298G>A (p.Gly1433Asp) c.4010G>A (p.Gly1337Asp) c.2576G>A (p.Gly859Asp) c.1739G>A (p.Gly580Asp) c.1370G>A (p.Gly457Asp) n.2881G>A n.338G>A c.4418G>A (p.Gly1473Asp) n.2415G>A c.1786G>A c.1700G>A n.1084G>A c.1760G>A (p.Gly587Asp) c.1919G>A (p.Gly640Asp) c.4049G>A (p.Gly1350Asp) c.4169G>A (p.Gly1390Asp) c.3248G>A (p.Gly1083Asp) c.3068G>A (p.Gly1023Asp) c.2828G>A (p.Gly943Asp) c.2447G>A (p.Gly816Asp) c.1310G>A (p.Gly437Asp) c.4379G>A (p.Gly1460Asp) c.4280G>A (p.Gly1427Asp) c.4250G>A (p.Gly1417Asp) c.4220G>A (p.Gly1407Asp) c.4091G>A (p.Gly1364Asp) c.4070G>A (p.Gly1357Asp) n.4427-1859G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157198846G>C | CA366239676 | ARID1B | c.4259G>C (p.Gly1420Ala) c.4328G>C (p.Gly1443Ala) c.4547G>C (p.Gly1516Ala) c.4298G>C (p.Gly1433Ala) c.4010G>C (p.Gly1337Ala) c.2576G>C (p.Gly859Ala) c.1739G>C (p.Gly580Ala) c.1370G>C (p.Gly457Ala) n.2881G>C n.338G>C c.4418G>C (p.Gly1473Ala) n.2415G>C c.1786G>C c.1700G>C n.1084G>C c.1760G>C (p.Gly587Ala) c.1919G>C (p.Gly640Ala) c.4049G>C (p.Gly1350Ala) c.4169G>C (p.Gly1390Ala) c.3248G>C (p.Gly1083Ala) c.3068G>C (p.Gly1023Ala) c.2828G>C (p.Gly943Ala) c.2447G>C (p.Gly816Ala) c.1310G>C (p.Gly437Ala) c.4379G>C (p.Gly1460Ala) c.4280G>C (p.Gly1427Ala) c.4250G>C (p.Gly1417Ala) c.4220G>C (p.Gly1407Ala) c.4091G>C (p.Gly1364Ala) c.4070G>C (p.Gly1357Ala) n.4427-1859G>C | dbSNP |
| 6 | g.157198846G= | CA1675542228 | ARID1B | c.4259G= (p.Gly1420=) c.4328G= (p.Gly1443=) c.4547G= (p.Gly1516=) c.4298G= (p.Gly1433=) c.4010G= (p.Gly1337=) c.2576G= (p.Gly859=) c.1739G= (p.Gly580=) c.1370G= (p.Gly457=) n.2881G= n.338G= c.4418G= (p.Gly1473=) n.2415G= c.1786G= c.1700G= n.1084G= c.1760G= (p.Gly587=) c.1919G= (p.Gly640=) c.4049G= (p.Gly1350=) c.4169G= (p.Gly1390=) c.3248G= (p.Gly1083=) c.3068G= (p.Gly1023=) c.2828G= (p.Gly943=) c.2447G= (p.Gly816=) c.1310G= (p.Gly437=) c.4379G= (p.Gly1460=) c.4280G= (p.Gly1427=) c.4250G= (p.Gly1417=) c.4220G= (p.Gly1407=) c.4091G= (p.Gly1364=) c.4070G= (p.Gly1357=) n.4427-1859G= | |
| 6 | g.157198846G>T | CA366239680 | ARID1B | c.4259G>T (p.Gly1420Val) c.4328G>T (p.Gly1443Val) c.4547G>T (p.Gly1516Val) c.4298G>T (p.Gly1433Val) c.4010G>T (p.Gly1337Val) c.2576G>T (p.Gly859Val) c.1739G>T (p.Gly580Val) c.1370G>T (p.Gly457Val) n.2881G>T n.338G>T c.4418G>T (p.Gly1473Val) n.2415G>T c.1786G>T c.1700G>T n.1084G>T c.1760G>T (p.Gly587Val) c.1919G>T (p.Gly640Val) c.4049G>T (p.Gly1350Val) c.4169G>T (p.Gly1390Val) c.3248G>T (p.Gly1083Val) c.3068G>T (p.Gly1023Val) c.2828G>T (p.Gly943Val) c.2447G>T (p.Gly816Val) c.1310G>T (p.Gly437Val) c.4379G>T (p.Gly1460Val) c.4280G>T (p.Gly1427Val) c.4250G>T (p.Gly1417Val) c.4220G>T (p.Gly1407Val) c.4091G>T (p.Gly1364Val) c.4070G>T (p.Gly1357Val) n.4427-1859G>T | gnomAD v4 |
| 6 | g.157198847C>A | CA452783932 | ARID1B | c.4260C>A (p.Gly1420=) c.4329C>A (p.Gly1443=) c.4548C>A (p.Gly1516=) c.4299C>A (p.Gly1433=) c.4011C>A (p.Gly1337=) c.2577C>A (p.Gly859=) c.1740C>A (p.Gly580=) c.1371C>A (p.Gly457=) n.2882C>A n.339C>A c.4419C>A (p.Gly1473=) n.2416C>A c.1787C>A c.1701C>A n.1085C>A c.1761C>A (p.Gly587=) c.1920C>A (p.Gly640=) c.4050C>A (p.Gly1350=) c.4170C>A (p.Gly1390=) c.3249C>A (p.Gly1083=) c.3069C>A (p.Gly1023=) c.2829C>A (p.Gly943=) c.2448C>A (p.Gly816=) c.1311C>A (p.Gly437=) c.4380C>A (p.Gly1460=) c.4281C>A (p.Gly1427=) c.4251C>A (p.Gly1417=) c.4221C>A (p.Gly1407=) c.4092C>A (p.Gly1364=) c.4071C>A (p.Gly1357=) n.4427-1858C>A | gnomAD v4 |
| 6 | g.157198847C= | CA1675542229 | ARID1B | c.4260C= (p.Gly1420=) c.4329C= (p.Gly1443=) c.4548C= (p.Gly1516=) c.4299C= (p.Gly1433=) c.4011C= (p.Gly1337=) c.2577C= (p.Gly859=) c.1740C= (p.Gly580=) c.1371C= (p.Gly457=) n.2882C= n.339C= c.4419C= (p.Gly1473=) n.2416C= c.1787C= c.1701C= n.1085C= c.1761C= (p.Gly587=) c.1920C= (p.Gly640=) c.4050C= (p.Gly1350=) c.4170C= (p.Gly1390=) c.3249C= (p.Gly1083=) c.3069C= (p.Gly1023=) c.2829C= (p.Gly943=) c.2448C= (p.Gly816=) c.1311C= (p.Gly437=) c.4380C= (p.Gly1460=) c.4281C= (p.Gly1427=) c.4251C= (p.Gly1417=) c.4221C= (p.Gly1407=) c.4092C= (p.Gly1364=) c.4071C= (p.Gly1357=) n.4427-1858C= | |
| 6 | g.157198847C>G | CA452783933 | ARID1B | c.4260C>G (p.Gly1420=) c.4329C>G (p.Gly1443=) c.4548C>G (p.Gly1516=) c.4299C>G (p.Gly1433=) c.4011C>G (p.Gly1337=) c.2577C>G (p.Gly859=) c.1740C>G (p.Gly580=) c.1371C>G (p.Gly457=) n.2882C>G n.339C>G c.4419C>G (p.Gly1473=) n.2416C>G c.1787C>G c.1701C>G n.1085C>G c.1761C>G (p.Gly587=) c.1920C>G (p.Gly640=) c.4050C>G (p.Gly1350=) c.4170C>G (p.Gly1390=) c.3249C>G (p.Gly1083=) c.3069C>G (p.Gly1023=) c.2829C>G (p.Gly943=) c.2448C>G (p.Gly816=) c.1311C>G (p.Gly437=) c.4380C>G (p.Gly1460=) c.4281C>G (p.Gly1427=) c.4251C>G (p.Gly1417=) c.4221C>G (p.Gly1407=) c.4092C>G (p.Gly1364=) c.4071C>G (p.Gly1357=) n.4427-1858C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157198847C>T | CA452783934 | ARID1B | c.4260C>T (p.Gly1420=) c.4329C>T (p.Gly1443=) c.4548C>T (p.Gly1516=) c.4299C>T (p.Gly1433=) c.4011C>T (p.Gly1337=) c.2577C>T (p.Gly859=) c.1740C>T (p.Gly580=) c.1371C>T (p.Gly457=) n.2882C>T n.339C>T c.4419C>T (p.Gly1473=) n.2416C>T c.1787C>T c.1701C>T n.1085C>T c.1761C>T (p.Gly587=) c.1920C>T (p.Gly640=) c.4050C>T (p.Gly1350=) c.4170C>T (p.Gly1390=) c.3249C>T (p.Gly1083=) c.3069C>T (p.Gly1023=) c.2829C>T (p.Gly943=) c.2448C>T (p.Gly816=) c.1311C>T (p.Gly437=) c.4380C>T (p.Gly1460=) c.4281C>T (p.Gly1427=) c.4251C>T (p.Gly1417=) c.4221C>T (p.Gly1407=) c.4092C>T (p.Gly1364=) c.4071C>T (p.Gly1357=) n.4427-1858C>T | dbSNP |
| 6 | g.157198848C>A | CA366239686 | ARID1B | c.4261C>A (p.Pro1421Thr) c.4330C>A (p.Pro1444Thr) c.4549C>A (p.Pro1517Thr) c.4300C>A (p.Pro1434Thr) c.4012C>A (p.Pro1338Thr) c.2578C>A (p.Pro860Thr) c.1741C>A (p.Pro581Thr) c.1372C>A (p.Pro458Thr) n.2883C>A n.340C>A c.4420C>A (p.Pro1474Thr) n.2417C>A c.1788C>A c.1702C>A n.1086C>A c.1762C>A (p.Pro588Thr) c.1921C>A (p.Pro641Thr) c.4051C>A (p.Pro1351Thr) c.4171C>A (p.Pro1391Thr) c.3250C>A (p.Pro1084Thr) c.3070C>A (p.Pro1024Thr) c.2830C>A (p.Pro944Thr) c.2449C>A (p.Pro817Thr) c.1312C>A (p.Pro438Thr) c.4381C>A (p.Pro1461Thr) c.4282C>A (p.Pro1428Thr) c.4252C>A (p.Pro1418Thr) c.4222C>A (p.Pro1408Thr) c.4093C>A (p.Pro1365Thr) c.4072C>A (p.Pro1358Thr) n.4427-1857C>A | dbSNP |
| 6 | g.157198848C>G | CA366239689 | ARID1B | c.4261C>G (p.Pro1421Ala) c.4330C>G (p.Pro1444Ala) c.4549C>G (p.Pro1517Ala) c.4300C>G (p.Pro1434Ala) c.4012C>G (p.Pro1338Ala) c.2578C>G (p.Pro860Ala) c.1741C>G (p.Pro581Ala) c.1372C>G (p.Pro458Ala) n.2883C>G n.340C>G c.4420C>G (p.Pro1474Ala) n.2417C>G c.1788C>G c.1702C>G n.1086C>G c.1762C>G (p.Pro588Ala) c.1921C>G (p.Pro641Ala) c.4051C>G (p.Pro1351Ala) c.4171C>G (p.Pro1391Ala) c.3250C>G (p.Pro1084Ala) c.3070C>G (p.Pro1024Ala) c.2830C>G (p.Pro944Ala) c.2449C>G (p.Pro817Ala) c.1312C>G (p.Pro438Ala) c.4381C>G (p.Pro1461Ala) c.4282C>G (p.Pro1428Ala) c.4252C>G (p.Pro1418Ala) c.4222C>G (p.Pro1408Ala) c.4093C>G (p.Pro1365Ala) c.4072C>G (p.Pro1358Ala) n.4427-1857C>G | |
| 6 | g.157198848C>T | CA366239692 | ARID1B | c.4261C>T (p.Pro1421Ser) c.4330C>T (p.Pro1444Ser) c.4549C>T (p.Pro1517Ser) c.4300C>T (p.Pro1434Ser) c.4012C>T (p.Pro1338Ser) c.2578C>T (p.Pro860Ser) c.1741C>T (p.Pro581Ser) c.1372C>T (p.Pro458Ser) n.2883C>T n.340C>T c.4420C>T (p.Pro1474Ser) n.2417C>T c.1788C>T c.1702C>T n.1086C>T c.1762C>T (p.Pro588Ser) c.1921C>T (p.Pro641Ser) c.4051C>T (p.Pro1351Ser) c.4171C>T (p.Pro1391Ser) c.3250C>T (p.Pro1084Ser) c.3070C>T (p.Pro1024Ser) c.2830C>T (p.Pro944Ser) c.2449C>T (p.Pro817Ser) c.1312C>T (p.Pro438Ser) c.4381C>T (p.Pro1461Ser) c.4282C>T (p.Pro1428Ser) c.4252C>T (p.Pro1418Ser) c.4222C>T (p.Pro1408Ser) c.4093C>T (p.Pro1365Ser) c.4072C>T (p.Pro1358Ser) n.4427-1857C>T |