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.157148759del | CA2695207240 | ARID1B | c.2897del (p.Leu966ArgfsTer18) c.2807del (p.Leu936ArgfsTer18) c.911del (p.Leu304ArgfsTer18) c.2936del (p.Leu979ArgfsTer18) c.2648del (p.Leu883ArgfsTer18) c.1055del (p.Leu352ArgfsTer18) n.798del c.218del (p.Leu73ArgfsTer18) n.31del c.136del c.398del (p.Leu133ArgfsTer18) c.2687del (p.Leu896ArgfsTer18) n.1646del c.914del (p.Leu305ArgfsTer18) n.744del c.1598del (p.Leu533ArgfsTer18) c.1418del (p.Leu473ArgfsTer18) c.1178del (p.Leu393ArgfsTer18) c.797del (p.Leu266ArgfsTer18) c.-20+15552del (n.-20+15552del) c.2729del (p.Leu910ArgfsTer18) c.2549del (p.Leu850ArgfsTer18) n.2812del | |
| 6 | g.157148759T>A | CA366388895 | ARID1B | c.2897T>A (p.Leu966Gln) c.2807T>A (p.Leu936Gln) c.911T>A (p.Leu304Gln) c.2936T>A (p.Leu979Gln) c.2648T>A (p.Leu883Gln) c.1055T>A (p.Leu352Gln) n.798T>A c.218T>A (p.Leu73Gln) n.31T>A c.136T>A c.398T>A (p.Leu133Gln) c.2687T>A (p.Leu896Gln) n.1646T>A c.914T>A (p.Leu305Gln) n.744T>A c.1598T>A (p.Leu533Gln) c.1418T>A (p.Leu473Gln) c.1178T>A (p.Leu393Gln) c.797T>A (p.Leu266Gln) c.-20+15552T>A (n.-20+15552T>A) c.2729T>A (p.Leu910Gln) c.2549T>A (p.Leu850Gln) n.2812T>A | |
| 6 | g.157148759T>C | CA366388896 | ARID1B | c.2897T>C (p.Leu966Pro) c.2807T>C (p.Leu936Pro) c.911T>C (p.Leu304Pro) c.2936T>C (p.Leu979Pro) c.2648T>C (p.Leu883Pro) c.1055T>C (p.Leu352Pro) n.798T>C c.218T>C (p.Leu73Pro) n.31T>C c.136T>C c.398T>C (p.Leu133Pro) c.2687T>C (p.Leu896Pro) n.1646T>C c.914T>C (p.Leu305Pro) n.744T>C c.1598T>C (p.Leu533Pro) c.1418T>C (p.Leu473Pro) c.1178T>C (p.Leu393Pro) c.797T>C (p.Leu266Pro) c.-20+15552T>C (n.-20+15552T>C) c.2729T>C (p.Leu910Pro) c.2549T>C (p.Leu850Pro) n.2812T>C | |
| 6 | g.157148759T>G | CA366388897 | ARID1B | c.2897T>G (p.Leu966Arg) c.2807T>G (p.Leu936Arg) c.911T>G (p.Leu304Arg) c.2936T>G (p.Leu979Arg) c.2648T>G (p.Leu883Arg) c.1055T>G (p.Leu352Arg) n.798T>G c.218T>G (p.Leu73Arg) n.31T>G c.136T>G c.398T>G (p.Leu133Arg) c.2687T>G (p.Leu896Arg) n.1646T>G c.914T>G (p.Leu305Arg) n.744T>G c.1598T>G (p.Leu533Arg) c.1418T>G (p.Leu473Arg) c.1178T>G (p.Leu393Arg) c.797T>G (p.Leu266Arg) c.-20+15552T>G (n.-20+15552T>G) c.2729T>G (p.Leu910Arg) c.2549T>G (p.Leu850Arg) n.2812T>G | |
| 6 | g.157148760G>A | CA150846251 | ARID1B | c.2898G>A (p.Leu966=) c.2808G>A (p.Leu936=) c.912G>A (p.Leu304=) c.2937G>A (p.Leu979=) c.2649G>A (p.Leu883=) c.1056G>A (p.Leu352=) n.799G>A c.219G>A (p.Leu73=) n.32G>A c.137G>A c.399G>A (p.Leu133=) c.2688G>A (p.Leu896=) n.1647G>A c.915G>A (p.Leu305=) n.745G>A c.1599G>A (p.Leu533=) c.1419G>A (p.Leu473=) c.1179G>A (p.Leu393=) c.798G>A (p.Leu266=) c.-20+15553G>A (n.-20+15553G>A) c.2730G>A (p.Leu910=) c.2550G>A (p.Leu850=) n.2813G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.157148760G>C | CA452990140 | ARID1B | c.2898G>C (p.Leu966=) c.2808G>C (p.Leu936=) c.912G>C (p.Leu304=) c.2937G>C (p.Leu979=) c.2649G>C (p.Leu883=) c.1056G>C (p.Leu352=) n.799G>C c.219G>C (p.Leu73=) n.32G>C c.137G>C c.399G>C (p.Leu133=) c.2688G>C (p.Leu896=) n.1647G>C c.915G>C (p.Leu305=) n.745G>C c.1599G>C (p.Leu533=) c.1419G>C (p.Leu473=) c.1179G>C (p.Leu393=) c.798G>C (p.Leu266=) c.-20+15553G>C (n.-20+15553G>C) c.2730G>C (p.Leu910=) c.2550G>C (p.Leu850=) n.2813G>C | |
| 6 | g.157148760G= | CA1675517007 | ARID1B | c.2898G= (p.Leu966=) c.2808G= (p.Leu936=) c.912G= (p.Leu304=) c.2937G= (p.Leu979=) c.2649G= (p.Leu883=) c.1056G= (p.Leu352=) n.799G= c.219G= (p.Leu73=) n.32G= c.137G= c.399G= (p.Leu133=) c.2688G= (p.Leu896=) n.1647G= c.915G= (p.Leu305=) n.745G= c.1599G= (p.Leu533=) c.1419G= (p.Leu473=) c.1179G= (p.Leu393=) c.798G= (p.Leu266=) c.-20+15553G= (n.-20+15553G=) c.2730G= (p.Leu910=) c.2550G= (p.Leu850=) n.2813G= | |
| 6 | g.157148760G>T | CA452990141 | ARID1B | c.2898G>T (p.Leu966=) c.2808G>T (p.Leu936=) c.912G>T (p.Leu304=) c.2937G>T (p.Leu979=) c.2649G>T (p.Leu883=) c.1056G>T (p.Leu352=) n.799G>T c.219G>T (p.Leu73=) n.32G>T c.137G>T c.399G>T (p.Leu133=) c.2688G>T (p.Leu896=) n.1647G>T c.915G>T (p.Leu305=) n.745G>T c.1599G>T (p.Leu533=) c.1419G>T (p.Leu473=) c.1179G>T (p.Leu393=) c.798G>T (p.Leu266=) c.-20+15553G>T (n.-20+15553G>T) c.2730G>T (p.Leu910=) c.2550G>T (p.Leu850=) n.2813G>T | |
| 6 | g.157148761G>A | CA366388898 | ARID1B | c.2899G>A (p.Gly967Arg) c.2809G>A (p.Gly937Arg) c.913G>A (p.Gly305Arg) c.2938G>A (p.Gly980Arg) c.2650G>A (p.Gly884Arg) c.1057G>A (p.Gly353Arg) n.800G>A c.220G>A (p.Gly74Arg) n.33G>A c.138G>A c.400G>A (p.Gly134Arg) c.2689G>A (p.Gly897Arg) n.1648G>A c.916G>A (p.Gly306Arg) n.746G>A c.1600G>A (p.Gly534Arg) c.1420G>A (p.Gly474Arg) c.1180G>A (p.Gly394Arg) c.799G>A (p.Gly267Arg) c.-20+15554G>A (n.-20+15554G>A) c.2731G>A (p.Gly911Arg) c.2551G>A (p.Gly851Arg) n.2814G>A | ClinVar dbSNP |
| 6 | g.157148761G>C | CA366388899 | ARID1B | c.2899G>C (p.Gly967Arg) c.2809G>C (p.Gly937Arg) c.913G>C (p.Gly305Arg) c.2938G>C (p.Gly980Arg) c.2650G>C (p.Gly884Arg) c.1057G>C (p.Gly353Arg) n.800G>C c.220G>C (p.Gly74Arg) n.33G>C c.138G>C c.400G>C (p.Gly134Arg) c.2689G>C (p.Gly897Arg) n.1648G>C c.916G>C (p.Gly306Arg) n.746G>C c.1600G>C (p.Gly534Arg) c.1420G>C (p.Gly474Arg) c.1180G>C (p.Gly394Arg) c.799G>C (p.Gly267Arg) c.-20+15554G>C (n.-20+15554G>C) c.2731G>C (p.Gly911Arg) c.2551G>C (p.Gly851Arg) n.2814G>C | |
| 6 | g.157148761G= | CA1675517008 | ARID1B | c.2899G= (p.Gly967=) c.2809G= (p.Gly937=) c.913G= (p.Gly305=) c.2938G= (p.Gly980=) c.2650G= (p.Gly884=) c.1057G= (p.Gly353=) n.800G= c.220G= (p.Gly74=) n.33G= c.138G= c.400G= (p.Gly134=) c.2689G= (p.Gly897=) n.1648G= c.916G= (p.Gly306=) n.746G= c.1600G= (p.Gly534=) c.1420G= (p.Gly474=) c.1180G= (p.Gly394=) c.799G= (p.Gly267=) c.-20+15554G= (n.-20+15554G=) c.2731G= (p.Gly911=) c.2551G= (p.Gly851=) n.2814G= | |
| 6 | g.157148761G>T | CA366388900 | ARID1B | c.2899G>T (p.Gly967Ter) c.2809G>T (p.Gly937Ter) c.913G>T (p.Gly305Ter) c.2938G>T (p.Gly980Ter) c.2650G>T (p.Gly884Ter) c.1057G>T (p.Gly353Ter) n.800G>T c.220G>T (p.Gly74Ter) n.33G>T c.138G>T c.400G>T (p.Gly134Ter) c.2689G>T (p.Gly897Ter) n.1648G>T c.916G>T (p.Gly306Ter) n.746G>T c.1600G>T (p.Gly534Ter) c.1420G>T (p.Gly474Ter) c.1180G>T (p.Gly394Ter) c.799G>T (p.Gly267Ter) c.-20+15554G>T (n.-20+15554G>T) c.2731G>T (p.Gly911Ter) c.2551G>T (p.Gly851Ter) n.2814G>T | dbSNP |
| 6 | g.157148762_157148769del | CA645557766 | ARID1B | c.2900_2907del (p.Gly967AlafsTer?) c.2810_2817del (p.Gly937AlafsTer?) c.914_921del (p.Gly305AlafsTer?) c.2939_2946del (p.Gly980AlafsTer?) c.2651_2658del (p.Gly884AlafsTer?) c.1058_1065del (p.Gly353AlafsTer?) n.801_808del c.221_228del (p.Gly74AlafsTer?) n.34_41del c.139_146del c.401_408del (p.Gly134AlafsTer?) c.2690_2697del (p.Gly897AlafsTer?) n.1649_1656del c.917_924del (p.Gly306AlafsTer?) n.747_754del c.1601_1608del (p.Gly534AlafsTer?) c.1421_1428del (p.Gly474AlafsTer?) c.1181_1188del (p.Gly394AlafsTer?) c.800_807del (p.Gly267AlafsTer?) c.-20+15555_-20+15562del (n.-20+15555_-20+15562del) c.2732_2739del (p.Gly911AlafsTer?) c.2552_2559del (p.Gly851AlafsTer?) n.2815_2822del | COSMIC COSMIC |
| 6 | g.157148762G>A | CA366388901 | ARID1B | c.2900G>A (p.Gly967Glu) c.2810G>A (p.Gly937Glu) c.914G>A (p.Gly305Glu) c.2939G>A (p.Gly980Glu) c.2651G>A (p.Gly884Glu) c.1058G>A (p.Gly353Glu) n.801G>A c.221G>A (p.Gly74Glu) n.34G>A c.139G>A c.401G>A (p.Gly134Glu) c.2690G>A (p.Gly897Glu) n.1649G>A c.917G>A (p.Gly306Glu) n.747G>A c.1601G>A (p.Gly534Glu) c.1421G>A (p.Gly474Glu) c.1181G>A (p.Gly394Glu) c.800G>A (p.Gly267Glu) c.-20+15555G>A (n.-20+15555G>A) c.2732G>A (p.Gly911Glu) c.2552G>A (p.Gly851Glu) n.2815G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.157148762G>C | CA366388902 | ARID1B | c.2900G>C (p.Gly967Ala) c.2810G>C (p.Gly937Ala) c.914G>C (p.Gly305Ala) c.2939G>C (p.Gly980Ala) c.2651G>C (p.Gly884Ala) c.1058G>C (p.Gly353Ala) n.801G>C c.221G>C (p.Gly74Ala) n.34G>C c.139G>C c.401G>C (p.Gly134Ala) c.2690G>C (p.Gly897Ala) n.1649G>C c.917G>C (p.Gly306Ala) n.747G>C c.1601G>C (p.Gly534Ala) c.1421G>C (p.Gly474Ala) c.1181G>C (p.Gly394Ala) c.800G>C (p.Gly267Ala) c.-20+15555G>C (n.-20+15555G>C) c.2732G>C (p.Gly911Ala) c.2552G>C (p.Gly851Ala) n.2815G>C | |
| 6 | g.157148762G>T | CA366388903 | ARID1B | c.2900G>T (p.Gly967Val) c.2810G>T (p.Gly937Val) c.914G>T (p.Gly305Val) c.2939G>T (p.Gly980Val) c.2651G>T (p.Gly884Val) c.1058G>T (p.Gly353Val) n.801G>T c.221G>T (p.Gly74Val) n.34G>T c.139G>T c.401G>T (p.Gly134Val) c.2690G>T (p.Gly897Val) n.1649G>T c.917G>T (p.Gly306Val) n.747G>T c.1601G>T (p.Gly534Val) c.1421G>T (p.Gly474Val) c.1181G>T (p.Gly394Val) c.800G>T (p.Gly267Val) c.-20+15555G>T (n.-20+15555G>T) c.2732G>T (p.Gly911Val) c.2552G>T (p.Gly851Val) n.2815G>T | |
| 6 | g.157148763A>C | CA452990145 | ARID1B | c.2901A>C (p.Gly967=) c.2811A>C (p.Gly937=) c.915A>C (p.Gly305=) c.2940A>C (p.Gly980=) c.2652A>C (p.Gly884=) c.1059A>C (p.Gly353=) n.802A>C c.222A>C (p.Gly74=) n.35A>C c.140A>C c.402A>C (p.Gly134=) c.2691A>C (p.Gly897=) n.1650A>C c.918A>C (p.Gly306=) n.748A>C c.1602A>C (p.Gly534=) c.1422A>C (p.Gly474=) c.1182A>C (p.Gly394=) c.801A>C (p.Gly267=) c.-20+15556A>C (n.-20+15556A>C) c.2733A>C (p.Gly911=) c.2553A>C (p.Gly851=) n.2816A>C | |
| 6 | g.157148763A>G | CA452990146 | ARID1B | c.2901A>G (p.Gly967=) c.2811A>G (p.Gly937=) c.915A>G (p.Gly305=) c.2940A>G (p.Gly980=) c.2652A>G (p.Gly884=) c.1059A>G (p.Gly353=) n.802A>G c.222A>G (p.Gly74=) n.35A>G c.140A>G c.402A>G (p.Gly134=) c.2691A>G (p.Gly897=) n.1650A>G c.918A>G (p.Gly306=) n.748A>G c.1602A>G (p.Gly534=) c.1422A>G (p.Gly474=) c.1182A>G (p.Gly394=) c.801A>G (p.Gly267=) c.-20+15556A>G (n.-20+15556A>G) c.2733A>G (p.Gly911=) c.2553A>G (p.Gly851=) n.2816A>G | |
| 6 | g.157148763A>T | CA452990147 | ARID1B | c.2901A>T (p.Gly967=) c.2811A>T (p.Gly937=) c.915A>T (p.Gly305=) c.2940A>T (p.Gly980=) c.2652A>T (p.Gly884=) c.1059A>T (p.Gly353=) n.802A>T c.222A>T (p.Gly74=) n.35A>T c.140A>T c.402A>T (p.Gly134=) c.2691A>T (p.Gly897=) n.1650A>T c.918A>T (p.Gly306=) n.748A>T c.1602A>T (p.Gly534=) c.1422A>T (p.Gly474=) c.1182A>T (p.Gly394=) c.801A>T (p.Gly267=) c.-20+15556A>T (n.-20+15556A>T) c.2733A>T (p.Gly911=) c.2553A>T (p.Gly851=) n.2816A>T | |
| 6 | g.157148764C>A | CA452990148 | ARID1B | c.2902C>A (p.Arg968=) c.2812C>A (p.Arg938=) c.916C>A (p.Arg306=) c.2941C>A (p.Arg981=) c.2653C>A (p.Arg885=) c.1060C>A (p.Arg354=) n.803C>A c.223C>A (p.Arg75=) n.36C>A c.141C>A c.403C>A (p.Arg135=) c.2692C>A (p.Arg898=) n.1651C>A c.919C>A (p.Arg307=) n.749C>A c.1603C>A (p.Arg535=) c.1423C>A (p.Arg475=) c.1183C>A (p.Arg395=) c.802C>A (p.Arg268=) c.-20+15557C>A (n.-20+15557C>A) c.2734C>A (p.Arg912=) c.2554C>A (p.Arg852=) n.2817C>A | dbSNP |
| 6 | g.157148764C= | CA1675517009 | ARID1B | c.2902C= (p.Arg968=) c.2812C= (p.Arg938=) c.916C= (p.Arg306=) c.2941C= (p.Arg981=) c.2653C= (p.Arg885=) c.1060C= (p.Arg354=) n.803C= c.223C= (p.Arg75=) n.36C= c.141C= c.403C= (p.Arg135=) c.2692C= (p.Arg898=) n.1651C= c.919C= (p.Arg307=) n.749C= c.1603C= (p.Arg535=) c.1423C= (p.Arg475=) c.1183C= (p.Arg395=) c.802C= (p.Arg268=) c.-20+15557C= (n.-20+15557C=) c.2734C= (p.Arg912=) c.2554C= (p.Arg852=) n.2817C= | |
| 6 | g.157148764C>G | CA366388904 | ARID1B | c.2902C>G (p.Arg968Gly) c.2812C>G (p.Arg938Gly) c.916C>G (p.Arg306Gly) c.2941C>G (p.Arg981Gly) c.2653C>G (p.Arg885Gly) c.1060C>G (p.Arg354Gly) n.803C>G c.223C>G (p.Arg75Gly) n.36C>G c.141C>G c.403C>G (p.Arg135Gly) c.2692C>G (p.Arg898Gly) n.1651C>G c.919C>G (p.Arg307Gly) n.749C>G c.1603C>G (p.Arg535Gly) c.1423C>G (p.Arg475Gly) c.1183C>G (p.Arg395Gly) c.802C>G (p.Arg268Gly) c.-20+15557C>G (n.-20+15557C>G) c.2734C>G (p.Arg912Gly) c.2554C>G (p.Arg852Gly) n.2817C>G | dbSNP gnomAD v4 |
| 6 | g.157148764C>T | CA203785 | ARID1B | c.2902C>T (p.Arg968Ter) c.2812C>T (p.Arg938Ter) c.916C>T (p.Arg306Ter) c.2941C>T (p.Arg981Ter) c.2653C>T (p.Arg885Ter) c.1060C>T (p.Arg354Ter) n.803C>T c.223C>T (p.Arg75Ter) n.36C>T c.141C>T c.403C>T (p.Arg135Ter) c.2692C>T (p.Arg898Ter) n.1651C>T c.919C>T (p.Arg307Ter) n.749C>T c.1603C>T (p.Arg535Ter) c.1423C>T (p.Arg475Ter) c.1183C>T (p.Arg395Ter) c.802C>T (p.Arg268Ter) c.-20+15557C>T (n.-20+15557C>T) c.2734C>T (p.Arg912Ter) c.2554C>T (p.Arg852Ter) n.2817C>T | ClinVar dbSNP |
| 6 | g.157148765G>A | CA150846252 | ARID1B | c.2903G>A (p.Arg968Gln) c.2813G>A (p.Arg938Gln) c.917G>A (p.Arg306Gln) c.2942G>A (p.Arg981Gln) c.2654G>A (p.Arg885Gln) c.1061G>A (p.Arg354Gln) n.804G>A c.224G>A (p.Arg75Gln) n.37G>A c.142G>A c.404G>A (p.Arg135Gln) c.2693G>A (p.Arg898Gln) n.1652G>A c.920G>A (p.Arg307Gln) n.750G>A c.1604G>A (p.Arg535Gln) c.1424G>A (p.Arg475Gln) c.1184G>A (p.Arg395Gln) c.803G>A (p.Arg268Gln) c.-20+15558G>A (n.-20+15558G>A) c.2735G>A (p.Arg912Gln) c.2555G>A (p.Arg852Gln) n.2818G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.157148765G>C | CA366388906 | ARID1B | c.2903G>C (p.Arg968Pro) c.2813G>C (p.Arg938Pro) c.917G>C (p.Arg306Pro) c.2942G>C (p.Arg981Pro) c.2654G>C (p.Arg885Pro) c.1061G>C (p.Arg354Pro) n.804G>C c.224G>C (p.Arg75Pro) n.37G>C c.142G>C c.404G>C (p.Arg135Pro) c.2693G>C (p.Arg898Pro) n.1652G>C c.920G>C (p.Arg307Pro) n.750G>C c.1604G>C (p.Arg535Pro) c.1424G>C (p.Arg475Pro) c.1184G>C (p.Arg395Pro) c.803G>C (p.Arg268Pro) c.-20+15558G>C (n.-20+15558G>C) c.2735G>C (p.Arg912Pro) c.2555G>C (p.Arg852Pro) n.2818G>C | |
| 6 | g.157148765G= | CA1675517010 | ARID1B | c.2903G= (p.Arg968=) c.2813G= (p.Arg938=) c.917G= (p.Arg306=) c.2942G= (p.Arg981=) c.2654G= (p.Arg885=) c.1061G= (p.Arg354=) n.804G= c.224G= (p.Arg75=) n.37G= c.142G= c.404G= (p.Arg135=) c.2693G= (p.Arg898=) n.1652G= c.920G= (p.Arg307=) n.750G= c.1604G= (p.Arg535=) c.1424G= (p.Arg475=) c.1184G= (p.Arg395=) c.803G= (p.Arg268=) c.-20+15558G= (n.-20+15558G=) c.2735G= (p.Arg912=) c.2555G= (p.Arg852=) n.2818G= | |
| 6 | g.157148765G>T | CA366388905 | ARID1B | c.2903G>T (p.Arg968Leu) c.2813G>T (p.Arg938Leu) c.917G>T (p.Arg306Leu) c.2942G>T (p.Arg981Leu) c.2654G>T (p.Arg885Leu) c.1061G>T (p.Arg354Leu) n.804G>T c.224G>T (p.Arg75Leu) n.37G>T c.142G>T c.404G>T (p.Arg135Leu) c.2693G>T (p.Arg898Leu) n.1652G>T c.920G>T (p.Arg307Leu) n.750G>T c.1604G>T (p.Arg535Leu) c.1424G>T (p.Arg475Leu) c.1184G>T (p.Arg395Leu) c.803G>T (p.Arg268Leu) c.-20+15558G>T (n.-20+15558G>T) c.2735G>T (p.Arg912Leu) c.2555G>T (p.Arg852Leu) n.2818G>T | |
| 6 | g.157148766A>C | CA452990152 | ARID1B | c.2904A>C (p.Arg968=) c.2814A>C (p.Arg938=) c.918A>C (p.Arg306=) c.2943A>C (p.Arg981=) c.2655A>C (p.Arg885=) c.1062A>C (p.Arg354=) n.805A>C c.225A>C (p.Arg75=) n.38A>C c.143A>C c.405A>C (p.Arg135=) c.2694A>C (p.Arg898=) n.1653A>C c.921A>C (p.Arg307=) n.751A>C c.1605A>C (p.Arg535=) c.1425A>C (p.Arg475=) c.1185A>C (p.Arg395=) c.804A>C (p.Arg268=) c.-20+15559A>C (n.-20+15559A>C) c.2736A>C (p.Arg912=) c.2556A>C (p.Arg852=) n.2819A>C | |
| 6 | g.157148766A>G | CA452990153 | ARID1B | c.2904A>G (p.Arg968=) c.2814A>G (p.Arg938=) c.918A>G (p.Arg306=) c.2943A>G (p.Arg981=) c.2655A>G (p.Arg885=) c.1062A>G (p.Arg354=) n.805A>G c.225A>G (p.Arg75=) n.38A>G c.143A>G c.405A>G (p.Arg135=) c.2694A>G (p.Arg898=) n.1653A>G c.921A>G (p.Arg307=) n.751A>G c.1605A>G (p.Arg535=) c.1425A>G (p.Arg475=) c.1185A>G (p.Arg395=) c.804A>G (p.Arg268=) c.-20+15559A>G (n.-20+15559A>G) c.2736A>G (p.Arg912=) c.2556A>G (p.Arg852=) n.2819A>G | |
| 6 | g.157148766A>T | CA452990154 | ARID1B | c.2904A>T (p.Arg968=) c.2814A>T (p.Arg938=) c.918A>T (p.Arg306=) c.2943A>T (p.Arg981=) c.2655A>T (p.Arg885=) c.1062A>T (p.Arg354=) n.805A>T c.225A>T (p.Arg75=) n.38A>T c.143A>T c.405A>T (p.Arg135=) c.2694A>T (p.Arg898=) n.1653A>T c.921A>T (p.Arg307=) n.751A>T c.1605A>T (p.Arg535=) c.1425A>T (p.Arg475=) c.1185A>T (p.Arg395=) c.804A>T (p.Arg268=) c.-20+15559A>T (n.-20+15559A>T) c.2736A>T (p.Arg912=) c.2556A>T (p.Arg852=) n.2819A>T | |
| 6 | g.157148767A= | CA1675517011 | ARID1B | c.2905A= (p.Met969=) c.2815A= (p.Met939=) c.919A= (p.Met307=) c.2944A= (p.Met982=) c.2656A= (p.Met886=) c.1063A= (p.Met355=) n.806A= c.226A= (p.Met76=) n.39A= c.144A= c.406A= (p.Met136=) c.2695A= (p.Met899=) n.1654A= c.922A= (p.Met308=) n.752A= c.1606A= (p.Met536=) c.1426A= (p.Met476=) c.1186A= (p.Met396=) c.805A= (p.Met269=) c.-20+15560A= (n.-20+15560A=) c.2737A= (p.Met913=) c.2557A= (p.Met853=) n.2820A= | |
| 6 | g.157148767A>C | CA366388907 | ARID1B | c.2905A>C (p.Met969Leu) c.2815A>C (p.Met939Leu) c.919A>C (p.Met307Leu) c.2944A>C (p.Met982Leu) c.2656A>C (p.Met886Leu) c.1063A>C (p.Met355Leu) n.806A>C c.226A>C (p.Met76Leu) n.39A>C c.144A>C c.406A>C (p.Met136Leu) c.2695A>C (p.Met899Leu) n.1654A>C c.922A>C (p.Met308Leu) n.752A>C c.1606A>C (p.Met536Leu) c.1426A>C (p.Met476Leu) c.1186A>C (p.Met396Leu) c.805A>C (p.Met269Leu) c.-20+15560A>C (n.-20+15560A>C) c.2737A>C (p.Met913Leu) c.2557A>C (p.Met853Leu) n.2820A>C | |
| 6 | g.157148767A>G | CA366388908 | ARID1B | c.2905A>G (p.Met969Val) c.2815A>G (p.Met939Val) c.919A>G (p.Met307Val) c.2944A>G (p.Met982Val) c.2656A>G (p.Met886Val) c.1063A>G (p.Met355Val) n.806A>G c.226A>G (p.Met76Val) n.39A>G c.144A>G c.406A>G (p.Met136Val) c.2695A>G (p.Met899Val) n.1654A>G c.922A>G (p.Met308Val) n.752A>G c.1606A>G (p.Met536Val) c.1426A>G (p.Met476Val) c.1186A>G (p.Met396Val) c.805A>G (p.Met269Val) c.-20+15560A>G (n.-20+15560A>G) c.2737A>G (p.Met913Val) c.2557A>G (p.Met853Val) n.2820A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.157148767A>T | CA4067163 | ARID1B | c.2905A>T (p.Met969Leu) c.2815A>T (p.Met939Leu) c.919A>T (p.Met307Leu) c.2944A>T (p.Met982Leu) c.2656A>T (p.Met886Leu) c.1063A>T (p.Met355Leu) n.806A>T c.226A>T (p.Met76Leu) n.39A>T c.144A>T c.406A>T (p.Met136Leu) c.2695A>T (p.Met899Leu) n.1654A>T c.922A>T (p.Met308Leu) n.752A>T c.1606A>T (p.Met536Leu) c.1426A>T (p.Met476Leu) c.1186A>T (p.Met396Leu) c.805A>T (p.Met269Leu) c.-20+15560A>T (n.-20+15560A>T) c.2737A>T (p.Met913Leu) c.2557A>T (p.Met853Leu) n.2820A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.157148768T>A | CA366388909 | ARID1B | c.2906T>A (p.Met969Lys) c.2816T>A (p.Met939Lys) c.920T>A (p.Met307Lys) c.2945T>A (p.Met982Lys) c.2657T>A (p.Met886Lys) c.1064T>A (p.Met355Lys) n.807T>A c.227T>A (p.Met76Lys) n.40T>A c.145T>A c.407T>A (p.Met136Lys) c.2696T>A (p.Met899Lys) n.1655T>A c.923T>A (p.Met308Lys) n.753T>A c.1607T>A (p.Met536Lys) c.1427T>A (p.Met476Lys) c.1187T>A (p.Met396Lys) c.806T>A (p.Met269Lys) c.-20+15561T>A (n.-20+15561T>A) c.2738T>A (p.Met913Lys) c.2558T>A (p.Met853Lys) n.2821T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157148768T>C | CA366388910 | ARID1B | c.2906T>C (p.Met969Thr) c.2816T>C (p.Met939Thr) c.920T>C (p.Met307Thr) c.2945T>C (p.Met982Thr) c.2657T>C (p.Met886Thr) c.1064T>C (p.Met355Thr) n.807T>C c.227T>C (p.Met76Thr) n.40T>C c.145T>C c.407T>C (p.Met136Thr) c.2696T>C (p.Met899Thr) n.1655T>C c.923T>C (p.Met308Thr) n.753T>C c.1607T>C (p.Met536Thr) c.1427T>C (p.Met476Thr) c.1187T>C (p.Met396Thr) c.806T>C (p.Met269Thr) c.-20+15561T>C (n.-20+15561T>C) c.2738T>C (p.Met913Thr) c.2558T>C (p.Met853Thr) n.2821T>C | |
| 6 | g.157148768T>G | CA366388911 | ARID1B | c.2906T>G (p.Met969Arg) c.2816T>G (p.Met939Arg) c.920T>G (p.Met307Arg) c.2945T>G (p.Met982Arg) c.2657T>G (p.Met886Arg) c.1064T>G (p.Met355Arg) n.807T>G c.227T>G (p.Met76Arg) n.40T>G c.145T>G c.407T>G (p.Met136Arg) c.2696T>G (p.Met899Arg) n.1655T>G c.923T>G (p.Met308Arg) n.753T>G c.1607T>G (p.Met536Arg) c.1427T>G (p.Met476Arg) c.1187T>G (p.Met396Arg) c.806T>G (p.Met269Arg) c.-20+15561T>G (n.-20+15561T>G) c.2738T>G (p.Met913Arg) c.2558T>G (p.Met853Arg) n.2821T>G | |
| 6 | g.157148768T= | CA1675517012 | ARID1B | c.2906T= (p.Met969=) c.2816T= (p.Met939=) c.920T= (p.Met307=) c.2945T= (p.Met982=) c.2657T= (p.Met886=) c.1064T= (p.Met355=) n.807T= c.227T= (p.Met76=) n.40T= c.145T= c.407T= (p.Met136=) c.2696T= (p.Met899=) n.1655T= c.923T= (p.Met308=) n.753T= c.1607T= (p.Met536=) c.1427T= (p.Met476=) c.1187T= (p.Met396=) c.806T= (p.Met269=) c.-20+15561T= (n.-20+15561T=) c.2738T= (p.Met913=) c.2558T= (p.Met853=) n.2821T= | |
| 6 | g.157148769G>A | CA16609727 | ARID1B | c.2907G>A (p.Met969Ile) c.2817G>A (p.Met939Ile) c.921G>A (p.Met307Ile) c.2946G>A (p.Met982Ile) c.2658G>A (p.Met886Ile) c.1065G>A (p.Met355Ile) n.808G>A c.228G>A (p.Met76Ile) n.41G>A c.146G>A c.408G>A (p.Met136Ile) c.2697G>A (p.Met899Ile) n.1656G>A c.924G>A (p.Met308Ile) n.754G>A c.1608G>A (p.Met536Ile) c.1428G>A (p.Met476Ile) c.1188G>A (p.Met396Ile) c.807G>A (p.Met269Ile) c.-20+15562G>A (n.-20+15562G>A) c.2739G>A (p.Met913Ile) c.2559G>A (p.Met853Ile) n.2822G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.157148769G>C | CA366388912 | ARID1B | c.2907G>C (p.Met969Ile) c.2817G>C (p.Met939Ile) c.921G>C (p.Met307Ile) c.2946G>C (p.Met982Ile) c.2658G>C (p.Met886Ile) c.1065G>C (p.Met355Ile) n.808G>C c.228G>C (p.Met76Ile) n.41G>C c.146G>C c.408G>C (p.Met136Ile) c.2697G>C (p.Met899Ile) n.1656G>C c.924G>C (p.Met308Ile) n.754G>C c.1608G>C (p.Met536Ile) c.1428G>C (p.Met476Ile) c.1188G>C (p.Met396Ile) c.807G>C (p.Met269Ile) c.-20+15562G>C (n.-20+15562G>C) c.2739G>C (p.Met913Ile) c.2559G>C (p.Met853Ile) n.2822G>C | |
| 6 | g.157148769G= | CA1675517013 | ARID1B | c.2907G= (p.Met969=) c.2817G= (p.Met939=) c.921G= (p.Met307=) c.2946G= (p.Met982=) c.2658G= (p.Met886=) c.1065G= (p.Met355=) n.808G= c.228G= (p.Met76=) n.41G= c.146G= c.408G= (p.Met136=) c.2697G= (p.Met899=) n.1656G= c.924G= (p.Met308=) n.754G= c.1608G= (p.Met536=) c.1428G= (p.Met476=) c.1188G= (p.Met396=) c.807G= (p.Met269=) c.-20+15562G= (n.-20+15562G=) c.2739G= (p.Met913=) c.2559G= (p.Met853=) n.2822G= | |
| 6 | g.157148769G>T | CA366388913 | ARID1B | c.2907G>T (p.Met969Ile) c.2817G>T (p.Met939Ile) c.921G>T (p.Met307Ile) c.2946G>T (p.Met982Ile) c.2658G>T (p.Met886Ile) c.1065G>T (p.Met355Ile) n.808G>T c.228G>T (p.Met76Ile) n.41G>T c.146G>T c.408G>T (p.Met136Ile) c.2697G>T (p.Met899Ile) n.1656G>T c.924G>T (p.Met308Ile) n.754G>T c.1608G>T (p.Met536Ile) c.1428G>T (p.Met476Ile) c.1188G>T (p.Met396Ile) c.807G>T (p.Met269Ile) c.-20+15562G>T (n.-20+15562G>T) c.2739G>T (p.Met913Ile) c.2559G>T (p.Met853Ile) n.2822G>T | |
| 6 | g.157148770C>A | CA366388914 | ARID1B | c.2908C>A (p.Pro970Thr) c.2818C>A (p.Pro940Thr) c.922C>A (p.Pro308Thr) c.2947C>A (p.Pro983Thr) c.2659C>A (p.Pro887Thr) c.1066C>A (p.Pro356Thr) n.809C>A c.229C>A (p.Pro77Thr) n.42C>A c.147C>A c.409C>A (p.Pro137Thr) c.2698C>A (p.Pro900Thr) n.1657C>A c.925C>A (p.Pro309Thr) n.755C>A c.1609C>A (p.Pro537Thr) c.1429C>A (p.Pro477Thr) c.1189C>A (p.Pro397Thr) c.808C>A (p.Pro270Thr) c.-20+15563C>A (n.-20+15563C>A) c.2740C>A (p.Pro914Thr) c.2560C>A (p.Pro854Thr) n.2823C>A | |
| 6 | g.157148770C>G | CA366388915 | ARID1B | c.2908C>G (p.Pro970Ala) c.2818C>G (p.Pro940Ala) c.922C>G (p.Pro308Ala) c.2947C>G (p.Pro983Ala) c.2659C>G (p.Pro887Ala) c.1066C>G (p.Pro356Ala) n.809C>G c.229C>G (p.Pro77Ala) n.42C>G c.147C>G c.409C>G (p.Pro137Ala) c.2698C>G (p.Pro900Ala) n.1657C>G c.925C>G (p.Pro309Ala) n.755C>G c.1609C>G (p.Pro537Ala) c.1429C>G (p.Pro477Ala) c.1189C>G (p.Pro397Ala) c.808C>G (p.Pro270Ala) c.-20+15563C>G (n.-20+15563C>G) c.2740C>G (p.Pro914Ala) c.2560C>G (p.Pro854Ala) n.2823C>G | |
| 6 | g.157148770C>T | CA366388916 | ARID1B | c.2908C>T (p.Pro970Ser) c.2818C>T (p.Pro940Ser) c.922C>T (p.Pro308Ser) c.2947C>T (p.Pro983Ser) c.2659C>T (p.Pro887Ser) c.1066C>T (p.Pro356Ser) n.809C>T c.229C>T (p.Pro77Ser) n.42C>T c.147C>T c.409C>T (p.Pro137Ser) c.2698C>T (p.Pro900Ser) n.1657C>T c.925C>T (p.Pro309Ser) n.755C>T c.1609C>T (p.Pro537Ser) c.1429C>T (p.Pro477Ser) c.1189C>T (p.Pro397Ser) c.808C>T (p.Pro270Ser) c.-20+15563C>T (n.-20+15563C>T) c.2740C>T (p.Pro914Ser) c.2560C>T (p.Pro854Ser) n.2823C>T | |
| 6 | g.157148771C>A | CA366388918 | ARID1B | c.2909C>A (p.Pro970Gln) c.2819C>A (p.Pro940Gln) c.923C>A (p.Pro308Gln) c.2948C>A (p.Pro983Gln) c.2660C>A (p.Pro887Gln) c.1067C>A (p.Pro356Gln) n.810C>A c.230C>A (p.Pro77Gln) n.43C>A c.148C>A c.410C>A (p.Pro137Gln) c.2699C>A (p.Pro900Gln) n.1658C>A c.926C>A (p.Pro309Gln) n.756C>A c.1610C>A (p.Pro537Gln) c.1430C>A (p.Pro477Gln) c.1190C>A (p.Pro397Gln) c.809C>A (p.Pro270Gln) c.-20+15564C>A (n.-20+15564C>A) c.2741C>A (p.Pro914Gln) c.2561C>A (p.Pro854Gln) n.2824C>A | |
| 6 | g.157148771C= | CA1675517014 | ARID1B | c.2909C= (p.Pro970=) c.2819C= (p.Pro940=) c.923C= (p.Pro308=) c.2948C= (p.Pro983=) c.2660C= (p.Pro887=) c.1067C= (p.Pro356=) n.810C= c.230C= (p.Pro77=) n.43C= c.148C= c.410C= (p.Pro137=) c.2699C= (p.Pro900=) n.1658C= c.926C= (p.Pro309=) n.756C= c.1610C= (p.Pro537=) c.1430C= (p.Pro477=) c.1190C= (p.Pro397=) c.809C= (p.Pro270=) c.-20+15564C= (n.-20+15564C=) c.2741C= (p.Pro914=) c.2561C= (p.Pro854=) n.2824C= | |
| 6 | g.157148771C>G | CA366388917 | ARID1B | c.2909C>G (p.Pro970Arg) c.2819C>G (p.Pro940Arg) c.923C>G (p.Pro308Arg) c.2948C>G (p.Pro983Arg) c.2660C>G (p.Pro887Arg) c.1067C>G (p.Pro356Arg) n.810C>G c.230C>G (p.Pro77Arg) n.43C>G c.148C>G c.410C>G (p.Pro137Arg) c.2699C>G (p.Pro900Arg) n.1658C>G c.926C>G (p.Pro309Arg) n.756C>G c.1610C>G (p.Pro537Arg) c.1430C>G (p.Pro477Arg) c.1190C>G (p.Pro397Arg) c.809C>G (p.Pro270Arg) c.-20+15564C>G (n.-20+15564C>G) c.2741C>G (p.Pro914Arg) c.2561C>G (p.Pro854Arg) n.2824C>G | |
| 6 | g.157148771C>T | CA16605061 | ARID1B | c.2909C>T (p.Pro970Leu) c.2819C>T (p.Pro940Leu) c.923C>T (p.Pro308Leu) c.2948C>T (p.Pro983Leu) c.2660C>T (p.Pro887Leu) c.1067C>T (p.Pro356Leu) n.810C>T c.230C>T (p.Pro77Leu) n.43C>T c.148C>T c.410C>T (p.Pro137Leu) c.2699C>T (p.Pro900Leu) n.1658C>T c.926C>T (p.Pro309Leu) n.756C>T c.1610C>T (p.Pro537Leu) c.1430C>T (p.Pro477Leu) c.1190C>T (p.Pro397Leu) c.809C>T (p.Pro270Leu) c.-20+15564C>T (n.-20+15564C>T) c.2741C>T (p.Pro914Leu) c.2561C>T (p.Pro854Leu) n.2824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.157148772A= | CA1675517015 | ARID1B | c.2910A= (p.Pro970=) c.2820A= (p.Pro940=) c.924A= (p.Pro308=) c.2949A= (p.Pro983=) c.2661A= (p.Pro887=) c.1068A= (p.Pro356=) n.811A= c.231A= (p.Pro77=) n.44A= c.149A= c.411A= (p.Pro137=) c.2700A= (p.Pro900=) n.1659A= c.927A= (p.Pro309=) n.757A= c.1611A= (p.Pro537=) c.1431A= (p.Pro477=) c.1191A= (p.Pro397=) c.810A= (p.Pro270=) c.-20+15565A= (n.-20+15565A=) c.2742A= (p.Pro914=) c.2562A= (p.Pro854=) n.2825A= |