WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15597428_15597434delinsCGCTCAG | CA1440710534 | CC2D2A | c.4495_4501delinsCGCTCAG (p.Arg1499=) c.4459_4465delinsCGCTCAG (p.Arg1487=) c.4312_4318delinsCGCTCAG (p.Arg1438=) n.358_364delinsCGCTCAG c.565_571delinsCGCTCAG (p.Arg189=) c.4253_4259delinsCGCTCAG (n.4253_4259delinsCGCTCAG) c.*1956_*1962delinsCGCTCAG (n.*1956_*1962delinsCGCTCAG) c.4135_4141delinsCGCTCAG (p.Arg1379=) n.5118_5124delinsCGCTCAG c.3957_3963delinsCGCTCAG c.2728_2734delinsCGCTCAG c.75_81delinsCGCTCAG c.4265_4271delinsCGCTCAG (n.4265_4271delinsCGCTCAG) c.4477_4483delinsCGCTCAG (p.Arg1493=) c.4330_4336delinsCGCTCAG (p.Arg1444=) | |
| 4 | g.15597429_15597434del | CA549900039 | CC2D2A | c.4496_4501del (p.Arg1499_Asp1501delinsHis) c.4460_4465del (p.Arg1487_Asp1489delinsHis) c.4313_4318del (p.Arg1438_Asp1440delinsHis) n.359_364del c.566_571del (p.Arg189_Asp191delinsHis) c.4254_4259del (n.4254_4259del) c.*1957_*1962del (n.*1957_*1962del) c.4136_4141del (p.Arg1379_Asp1381delinsHis) n.5119_5124del c.3958_3963del c.2729_2734del c.76_81del c.4266_4271del (n.4266_4271del) c.4478_4483del (p.Arg1493_Asp1495delinsHis) c.4331_4336del (p.Arg1444_Asp1446delinsHis) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15597431_15597435delinsTCAGA | CA1440710536 | CC2D2A | c.4498_4502delinsTCAGA (p.Ser1500=) c.4462_4466delinsTCAGA (p.Ser1488=) c.4315_4319delinsTCAGA (p.Ser1439=) n.361_365delinsTCAGA c.568_572delinsTCAGA (p.Ser190=) c.4256_4260delinsTCAGA (n.4256_4260delinsTCAGA) c.*1959_*1963delinsTCAGA (n.*1959_*1963delinsTCAGA) c.4138_4142delinsTCAGA (p.Ser1380=) n.5121_5125delinsTCAGA c.3960_3964delinsTCAGA c.2731_2735delinsTCAGA c.78_82delinsTCAGA c.4268_4272delinsTCAGA (n.4268_4272delinsTCAGA) c.4480_4484delinsTCAGA (p.Ser1494=) c.4333_4337delinsTCAGA (p.Ser1445=) | |
| 4 | g.15597434_15597437del | CA206276 | CC2D2A | c.4501_4504del (p.Asp1501LysfsTer15) c.4465_4468del (p.Asp1489LysfsTer15) c.4318_4321del (p.Asp1440LysfsTer15) n.364_367del c.571_574del (p.Asp191LysfsTer15) c.4259_4262del (n.4259_4262del) c.*1962_*1965del (n.*1962_*1965del) c.4141_4144del (p.Asp1381LysfsTer15) n.5124_5127del c.3963_3966del c.2734_2737del c.81_84del c.4271_4274del (n.4271_4274del) c.4483_4486del (p.Asp1495LysfsTer15) c.4336_4339del (p.Asp1446LysfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15597434G>A | CA356432184 | CC2D2A | c.4501G>A (p.Asp1501Asn) c.4465G>A (p.Asp1489Asn) c.4318G>A (p.Asp1440Asn) n.364G>A c.571G>A (p.Asp191Asn) c.4259G>A (n.4259G>A) c.*1962G>A (n.*1962G>A) c.4141G>A (p.Asp1381Asn) n.5124G>A c.3963G>A c.2734G>A c.81G>A c.4271G>A (n.4271G>A) c.4483G>A (p.Asp1495Asn) c.4336G>A (p.Asp1446Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15597434G>C | CA356432187 | CC2D2A | c.4501G>C (p.Asp1501His) c.4465G>C (p.Asp1489His) c.4318G>C (p.Asp1440His) n.364G>C c.571G>C (p.Asp191His) c.4259G>C (n.4259G>C) c.*1962G>C (n.*1962G>C) c.4141G>C (p.Asp1381His) n.5124G>C c.3963G>C c.2734G>C c.81G>C c.4271G>C (n.4271G>C) c.4483G>C (p.Asp1495His) c.4336G>C (p.Asp1446His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15597434G= | CA1440710538 | CC2D2A | c.4501G= (p.Asp1501=) c.4465G= (p.Asp1489=) c.4318G= (p.Asp1440=) n.364G= c.571G= (p.Asp191=) c.4259G= (n.4259G=) c.*1962G= (n.*1962G=) c.4141G= (p.Asp1381=) n.5124G= c.3963G= c.2734G= c.81G= c.4271G= (n.4271G=) c.4483G= (p.Asp1495=) c.4336G= (p.Asp1446=) | |
| 4 | g.15597434G>T | CA356432190 | CC2D2A | c.4501G>T (p.Asp1501Tyr) c.4465G>T (p.Asp1489Tyr) c.4318G>T (p.Asp1440Tyr) n.364G>T c.571G>T (p.Asp191Tyr) c.4259G>T (n.4259G>T) c.*1962G>T (n.*1962G>T) c.4141G>T (p.Asp1381Tyr) n.5124G>T c.3963G>T c.2734G>T c.81G>T c.4271G>T (n.4271G>T) c.4483G>T (p.Asp1495Tyr) c.4336G>T (p.Asp1446Tyr) | gnomAD v4 |
| 4 | g.15597435A>C | CA356432199 | CC2D2A | c.4502A>C (p.Asp1501Ala) c.4466A>C (p.Asp1489Ala) c.4319A>C (p.Asp1440Ala) n.365A>C c.572A>C (p.Asp191Ala) c.4260A>C (n.4260A>C) c.*1963A>C (n.*1963A>C) c.4142A>C (p.Asp1381Ala) n.5125A>C c.3964A>C c.2735A>C c.82A>C c.4272A>C (n.4272A>C) c.4484A>C (p.Asp1495Ala) c.4337A>C (p.Asp1446Ala) | |
| 4 | g.15597435A>G | CA356432196 | CC2D2A | c.4502A>G (p.Asp1501Gly) c.4466A>G (p.Asp1489Gly) c.4319A>G (p.Asp1440Gly) n.365A>G c.572A>G (p.Asp191Gly) c.4260A>G (n.4260A>G) c.*1963A>G (n.*1963A>G) c.4142A>G (p.Asp1381Gly) n.5125A>G c.3964A>G c.2735A>G c.82A>G c.4272A>G (n.4272A>G) c.4484A>G (p.Asp1495Gly) c.4337A>G (p.Asp1446Gly) | gnomAD v4 |
| 4 | g.15597435A>T | CA356432194 | CC2D2A | c.4502A>T (p.Asp1501Val) c.4466A>T (p.Asp1489Val) c.4319A>T (p.Asp1440Val) n.365A>T c.572A>T (p.Asp191Val) c.4260A>T (n.4260A>T) c.*1963A>T (n.*1963A>T) c.4142A>T (p.Asp1381Val) n.5125A>T c.3964A>T c.2735A>T c.82A>T c.4272A>T (n.4272A>T) c.4484A>T (p.Asp1495Val) c.4337A>T (p.Asp1446Val) | |
| 4 | g.15597436C>A | CA356432200 | CC2D2A | c.4503C>A (p.Asp1501Glu) c.4467C>A (p.Asp1489Glu) c.4320C>A (p.Asp1440Glu) n.366C>A c.573C>A (p.Asp191Glu) c.4261C>A (n.4261C>A) c.*1964C>A (n.*1964C>A) c.4143C>A (p.Asp1381Glu) n.5126C>A c.3965C>A c.2736C>A c.83C>A c.4273C>A (n.4273C>A) c.4485C>A (p.Asp1495Glu) c.4338C>A (p.Asp1446Glu) | gnomAD v4 |
| 4 | g.15597436C= | CA1440710539 | CC2D2A | c.4503C= (p.Asp1501=) c.4467C= (p.Asp1489=) c.4320C= (p.Asp1440=) n.366C= c.573C= (p.Asp191=) c.4261C= (n.4261C=) c.*1964C= (n.*1964C=) c.4143C= (p.Asp1381=) n.5126C= c.3965C= c.2736C= c.83C= c.4273C= (n.4273C=) c.4485C= (p.Asp1495=) c.4338C= (p.Asp1446=) | |
| 4 | g.15597436C>G | CA356432202 | CC2D2A | c.4503C>G (p.Asp1501Glu) c.4467C>G (p.Asp1489Glu) c.4320C>G (p.Asp1440Glu) n.366C>G c.573C>G (p.Asp191Glu) c.4261C>G (n.4261C>G) c.*1964C>G (n.*1964C>G) c.4143C>G (p.Asp1381Glu) n.5126C>G c.3965C>G c.2736C>G c.83C>G c.4273C>G (n.4273C>G) c.4485C>G (p.Asp1495Glu) c.4338C>G (p.Asp1446Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15597436C>T | CA438391122 | CC2D2A | c.4503C>T (p.Asp1501=) c.4467C>T (p.Asp1489=) c.4320C>T (p.Asp1440=) n.366C>T c.573C>T (p.Asp191=) c.4261C>T (n.4261C>T) c.*1964C>T (n.*1964C>T) c.4143C>T (p.Asp1381=) n.5126C>T c.3965C>T c.2736C>T c.83C>T c.4273C>T (n.4273C>T) c.4485C>T (p.Asp1495=) c.4338C>T (p.Asp1446=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.15597437A>C | CA356432206 | CC2D2A | c.4504A>C (p.Lys1502Gln) c.4468A>C (p.Lys1490Gln) c.4321A>C (p.Lys1441Gln) n.367A>C c.574A>C (p.Lys192Gln) c.4262A>C (n.4262A>C) c.*1965A>C (n.*1965A>C) c.4144A>C (p.Lys1382Gln) n.5127A>C c.3966A>C c.2737A>C c.84A>C c.4274A>C (n.4274A>C) c.4486A>C (p.Lys1496Gln) c.4339A>C (p.Lys1447Gln) | |
| 4 | g.15597437A>G | CA356432209 | CC2D2A | c.4504A>G (p.Lys1502Glu) c.4468A>G (p.Lys1490Glu) c.4321A>G (p.Lys1441Glu) n.367A>G c.574A>G (p.Lys192Glu) c.4262A>G (n.4262A>G) c.*1965A>G (n.*1965A>G) c.4144A>G (p.Lys1382Glu) n.5127A>G c.3966A>G c.2737A>G c.84A>G c.4274A>G (n.4274A>G) c.4486A>G (p.Lys1496Glu) c.4339A>G (p.Lys1447Glu) | |
| 4 | g.15597437A>T | CA356432211 | CC2D2A | c.4504A>T (p.Lys1502Ter) c.4468A>T (p.Lys1490Ter) c.4321A>T (p.Lys1441Ter) n.367A>T c.574A>T (p.Lys192Ter) c.4262A>T (n.4262A>T) c.*1965A>T (n.*1965A>T) c.4144A>T (p.Lys1382Ter) n.5127A>T c.3966A>T c.2737A>T c.84A>T c.4274A>T (n.4274A>T) c.4486A>T (p.Lys1496Ter) c.4339A>T (p.Lys1447Ter) | |
| 4 | g.15597438A>C | CA356432214 | CC2D2A | c.4505A>C (p.Lys1502Thr) c.4469A>C (p.Lys1490Thr) c.4322A>C (p.Lys1441Thr) n.368A>C c.575A>C (p.Lys192Thr) c.4263A>C (n.4263A>C) c.*1966A>C (n.*1966A>C) c.4145A>C (p.Lys1382Thr) n.5128A>C c.3967A>C c.2738A>C c.85A>C c.4275A>C (n.4275A>C) c.4487A>C (p.Lys1496Thr) c.4340A>C (p.Lys1447Thr) | |
| 4 | g.15597438A>G | CA356432216 | CC2D2A | c.4505A>G (p.Lys1502Arg) c.4469A>G (p.Lys1490Arg) c.4322A>G (p.Lys1441Arg) n.368A>G c.575A>G (p.Lys192Arg) c.4263A>G (n.4263A>G) c.*1966A>G (n.*1966A>G) c.4145A>G (p.Lys1382Arg) n.5128A>G c.3967A>G c.2738A>G c.85A>G c.4275A>G (n.4275A>G) c.4487A>G (p.Lys1496Arg) c.4340A>G (p.Lys1447Arg) | |
| 4 | g.15597438A>T | CA356432219 | CC2D2A | c.4505A>T (p.Lys1502Ile) c.4469A>T (p.Lys1490Ile) c.4322A>T (p.Lys1441Ile) n.368A>T c.575A>T (p.Lys192Ile) c.4263A>T (n.4263A>T) c.*1966A>T (n.*1966A>T) c.4145A>T (p.Lys1382Ile) n.5128A>T c.3967A>T c.2738A>T c.85A>T c.4275A>T (n.4275A>T) c.4487A>T (p.Lys1496Ile) c.4340A>T (p.Lys1447Ile) | gnomAD v4 |
| 4 | g.15597439A>C | CA356432221 | CC2D2A | c.4506A>C (p.Lys1502Asn) c.4470A>C (p.Lys1490Asn) c.4323A>C (p.Lys1441Asn) n.369A>C c.576A>C (p.Lys192Asn) c.4264A>C (n.4264A>C) c.*1967A>C (n.*1967A>C) c.4146A>C (p.Lys1382Asn) n.5129A>C c.3968A>C c.2739A>C c.86A>C c.4276A>C (n.4276A>C) c.4488A>C (p.Lys1496Asn) c.4341A>C (p.Lys1447Asn) | |
| 4 | g.15597439A>G | CA438391123 | CC2D2A | c.4506A>G (p.Lys1502=) c.4470A>G (p.Lys1490=) c.4323A>G (p.Lys1441=) n.369A>G c.576A>G (p.Lys192=) c.4264A>G (n.4264A>G) c.*1967A>G (n.*1967A>G) c.4146A>G (p.Lys1382=) n.5129A>G c.3968A>G c.2739A>G c.86A>G c.4276A>G (n.4276A>G) c.4488A>G (p.Lys1496=) c.4341A>G (p.Lys1447=) | gnomAD v4 |
| 4 | g.15597439A>T | CA356432224 | CC2D2A | c.4506A>T (p.Lys1502Asn) c.4470A>T (p.Lys1490Asn) c.4323A>T (p.Lys1441Asn) n.369A>T c.576A>T (p.Lys192Asn) c.4264A>T (n.4264A>T) c.*1967A>T (n.*1967A>T) c.4146A>T (p.Lys1382Asn) n.5129A>T c.3968A>T c.2739A>T c.86A>T c.4276A>T (n.4276A>T) c.4488A>T (p.Lys1496Asn) c.4341A>T (p.Lys1447Asn) | |
| 4 | g.15597440G>A | CA356432229 | CC2D2A | c.4507G>A (p.Ala1503Thr) c.4471G>A (p.Ala1491Thr) c.4324G>A (p.Ala1442Thr) n.370G>A c.577G>A (p.Ala193Thr) c.4265G>A (n.4265G>A) c.*1968G>A (n.*1968G>A) c.4147G>A (p.Ala1383Thr) n.5130G>A c.3969G>A c.2740G>A c.87G>A c.4277G>A (n.4277G>A) c.4489G>A (p.Ala1497Thr) c.4342G>A (p.Ala1448Thr) | gnomAD v4 |
| 4 | g.15597440G>C | CA356432231 | CC2D2A | c.4507G>C (p.Ala1503Pro) c.4471G>C (p.Ala1491Pro) c.4324G>C (p.Ala1442Pro) n.370G>C c.577G>C (p.Ala193Pro) c.4265G>C (n.4265G>C) c.*1968G>C (n.*1968G>C) c.4147G>C (p.Ala1383Pro) n.5130G>C c.3969G>C c.2740G>C c.87G>C c.4277G>C (n.4277G>C) c.4489G>C (p.Ala1497Pro) c.4342G>C (p.Ala1448Pro) | |
| 4 | g.15597440G>T | CA356432233 | CC2D2A | c.4507G>T (p.Ala1503Ser) c.4471G>T (p.Ala1491Ser) c.4324G>T (p.Ala1442Ser) n.370G>T c.577G>T (p.Ala193Ser) c.4265G>T (n.4265G>T) c.*1968G>T (n.*1968G>T) c.4147G>T (p.Ala1383Ser) n.5130G>T c.3969G>T c.2740G>T c.87G>T c.4277G>T (n.4277G>T) c.4489G>T (p.Ala1497Ser) c.4342G>T (p.Ala1448Ser) | gnomAD v4 |
| 4 | g.15597440dup | CA2740091257 | CC2D2A | c.4507dup (p.Ala1503GlyfsTer5) c.4471dup (p.Ala1491GlyfsTer5) c.4324dup (p.Ala1442GlyfsTer5) n.370dup c.577dup (p.Ala193GlyfsTer5) c.4265dup (n.4265dup) c.*1968dup (n.*1968dup) c.4147dup (p.Ala1383GlyfsTer5) n.5130dup c.3969dup c.2740dup c.87dup c.4277dup (n.4277dup) c.4489dup (p.Ala1497GlyfsTer5) c.4342dup (p.Ala1448GlyfsTer5) | ClinVar |
| 4 | g.15597447_15597452del | CA2578048283 | CC2D2A | c.4514_4519del (p.Ala1505_Ala1506del) c.4478_4483del (p.Ala1493_Ala1494del) c.4331_4336del (p.Ala1444_Ala1445del) n.377_382del c.584_589del (p.Ala195_Ala196del) c.4272_4277del (n.4272_4277del) c.*1975_*1980del (n.*1975_*1980del) c.4154_4159del (p.Ala1385_Ala1386del) n.5137_5142del c.3976_3981del c.2747_2752del c.94_99del c.4284_4289del (n.4284_4289del) c.4496_4501del (p.Ala1499_Ala1500del) c.4349_4354del (p.Ala1450_Ala1451del) | |
| 4 | g.15597441C>A | CA356432236 | CC2D2A | c.4508C>A (p.Ala1503Glu) c.4472C>A (p.Ala1491Glu) c.4325C>A (p.Ala1442Glu) n.371C>A c.578C>A (p.Ala193Glu) c.4266C>A (n.4266C>A) c.*1969C>A (n.*1969C>A) c.4148C>A (p.Ala1383Glu) n.5131C>A c.3970C>A c.2741C>A c.88C>A c.4278C>A (n.4278C>A) c.4490C>A (p.Ala1497Glu) c.4343C>A (p.Ala1448Glu) | gnomAD v4 |
| 4 | g.15597441C= | CA1440710540 | CC2D2A | c.4508C= (p.Ala1503=) c.4472C= (p.Ala1491=) c.4325C= (p.Ala1442=) n.371C= c.578C= (p.Ala193=) c.4266C= (n.4266C=) c.*1969C= (n.*1969C=) c.4148C= (p.Ala1383=) n.5131C= c.3970C= c.2741C= c.88C= c.4278C= (n.4278C=) c.4490C= (p.Ala1497=) c.4343C= (p.Ala1448=) | |
| 4 | g.15597441C>G | CA356432241 | CC2D2A | c.4508C>G (p.Ala1503Gly) c.4472C>G (p.Ala1491Gly) c.4325C>G (p.Ala1442Gly) n.371C>G c.578C>G (p.Ala193Gly) c.4266C>G (n.4266C>G) c.*1969C>G (n.*1969C>G) c.4148C>G (p.Ala1383Gly) n.5131C>G c.3970C>G c.2741C>G c.88C>G c.4278C>G (n.4278C>G) c.4490C>G (p.Ala1497Gly) c.4343C>G (p.Ala1448Gly) | |
| 4 | g.15597441C>T | CA356432239 | CC2D2A | c.4508C>T (p.Ala1503Val) c.4472C>T (p.Ala1491Val) c.4325C>T (p.Ala1442Val) n.371C>T c.578C>T (p.Ala193Val) c.4266C>T (n.4266C>T) c.*1969C>T (n.*1969C>T) c.4148C>T (p.Ala1383Val) n.5131C>T c.3970C>T c.2741C>T c.88C>T c.4278C>T (n.4278C>T) c.4490C>T (p.Ala1497Val) c.4343C>T (p.Ala1448Val) | dbSNP gnomAD v4 |
| 4 | g.15597442A>C | CA438391124 | CC2D2A | c.4509A>C (p.Ala1503=) c.4473A>C (p.Ala1491=) c.4326A>C (p.Ala1442=) n.372A>C c.579A>C (p.Ala193=) c.4267A>C (n.4267A>C) c.*1970A>C (n.*1970A>C) c.4149A>C (p.Ala1383=) n.5132A>C c.3971A>C c.2742A>C c.89A>C c.4279A>C (n.4279A>C) c.4491A>C (p.Ala1497=) c.4344A>C (p.Ala1448=) | |
| 4 | g.15597442A>G | CA438391125 | CC2D2A | c.4509A>G (p.Ala1503=) c.4473A>G (p.Ala1491=) c.4326A>G (p.Ala1442=) n.372A>G c.579A>G (p.Ala193=) c.4267A>G (n.4267A>G) c.*1970A>G (n.*1970A>G) c.4149A>G (p.Ala1383=) n.5132A>G c.3971A>G c.2742A>G c.89A>G c.4279A>G (n.4279A>G) c.4491A>G (p.Ala1497=) c.4344A>G (p.Ala1448=) | |
| 4 | g.15597442A>T | CA438391126 | CC2D2A | c.4509A>T (p.Ala1503=) c.4473A>T (p.Ala1491=) c.4326A>T (p.Ala1442=) n.372A>T c.579A>T (p.Ala193=) c.4267A>T (n.4267A>T) c.*1970A>T (n.*1970A>T) c.4149A>T (p.Ala1383=) n.5132A>T c.3971A>T c.2742A>T c.89A>T c.4279A>T (n.4279A>T) c.4491A>T (p.Ala1497=) c.4344A>T (p.Ala1448=) | |
| 4 | g.15597443G>A | CA356432244 | CC2D2A | c.4510G>A (p.Ala1504Thr) c.4474G>A (p.Ala1492Thr) c.4327G>A (p.Ala1443Thr) n.373G>A c.580G>A (p.Ala194Thr) c.4268G>A (n.4268G>A) c.*1971G>A (n.*1971G>A) c.4150G>A (p.Ala1384Thr) n.5133G>A c.3972G>A c.2743G>A c.90G>A c.4280G>A (n.4280G>A) c.4492G>A (p.Ala1498Thr) c.4345G>A (p.Ala1449Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15597443G>C | CA356432248 | CC2D2A | c.4510G>C (p.Ala1504Pro) c.4474G>C (p.Ala1492Pro) c.4327G>C (p.Ala1443Pro) n.373G>C c.580G>C (p.Ala194Pro) c.4268G>C (n.4268G>C) c.*1971G>C (n.*1971G>C) c.4150G>C (p.Ala1384Pro) n.5133G>C c.3972G>C c.2743G>C c.90G>C c.4280G>C (n.4280G>C) c.4492G>C (p.Ala1498Pro) c.4345G>C (p.Ala1449Pro) | |
| 4 | g.15597443G= | CA1440710541 | CC2D2A | c.4510G= (p.Ala1504=) c.4474G= (p.Ala1492=) c.4327G= (p.Ala1443=) n.373G= c.580G= (p.Ala194=) c.4268G= (n.4268G=) c.*1971G= (n.*1971G=) c.4150G= (p.Ala1384=) n.5133G= c.3972G= c.2743G= c.90G= c.4280G= (n.4280G=) c.4492G= (p.Ala1498=) c.4345G= (p.Ala1449=) | |
| 4 | g.15597443G>T | CA356432246 | CC2D2A | c.4510G>T (p.Ala1504Ser) c.4474G>T (p.Ala1492Ser) c.4327G>T (p.Ala1443Ser) n.373G>T c.580G>T (p.Ala194Ser) c.4268G>T (n.4268G>T) c.*1971G>T (n.*1971G>T) c.4150G>T (p.Ala1384Ser) n.5133G>T c.3972G>T c.2743G>T c.90G>T c.4280G>T (n.4280G>T) c.4492G>T (p.Ala1498Ser) c.4345G>T (p.Ala1449Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15597444C>A | CA356432252 | CC2D2A | c.4511C>A (p.Ala1504Asp) c.4475C>A (p.Ala1492Asp) c.4328C>A (p.Ala1443Asp) n.374C>A c.581C>A (p.Ala194Asp) c.4269C>A (n.4269C>A) c.*1972C>A (n.*1972C>A) c.4151C>A (p.Ala1384Asp) n.5134C>A c.3973C>A c.2744C>A c.91C>A c.4281C>A (n.4281C>A) c.4493C>A (p.Ala1498Asp) c.4346C>A (p.Ala1449Asp) | gnomAD v4 |
| 4 | g.15597444C>G | CA356432255 | CC2D2A | c.4511C>G (p.Ala1504Gly) c.4475C>G (p.Ala1492Gly) c.4328C>G (p.Ala1443Gly) n.374C>G c.581C>G (p.Ala194Gly) c.4269C>G (n.4269C>G) c.*1972C>G (n.*1972C>G) c.4151C>G (p.Ala1384Gly) n.5134C>G c.3973C>G c.2744C>G c.91C>G c.4281C>G (n.4281C>G) c.4493C>G (p.Ala1498Gly) c.4346C>G (p.Ala1449Gly) | |
| 4 | g.15597444C>T | CA356432253 | CC2D2A | c.4511C>T (p.Ala1504Val) c.4475C>T (p.Ala1492Val) c.4328C>T (p.Ala1443Val) n.374C>T c.581C>T (p.Ala194Val) c.4269C>T (n.4269C>T) c.*1972C>T (n.*1972C>T) c.4151C>T (p.Ala1384Val) n.5134C>T c.3973C>T c.2744C>T c.91C>T c.4281C>T (n.4281C>T) c.4493C>T (p.Ala1498Val) c.4346C>T (p.Ala1449Val) | |
| 4 | g.15597445T>A | CA438391127 | CC2D2A | c.4512T>A (p.Ala1504=) c.4476T>A (p.Ala1492=) c.4329T>A (p.Ala1443=) n.375T>A c.582T>A (p.Ala194=) c.4270T>A (n.4270T>A) c.*1973T>A (n.*1973T>A) c.4152T>A (p.Ala1384=) n.5135T>A c.3974T>A c.2745T>A c.92T>A c.4282T>A (n.4282T>A) c.4494T>A (p.Ala1498=) c.4347T>A (p.Ala1449=) | |
| 4 | g.15597445T>C | CA438391128 | CC2D2A | c.4512T>C (p.Ala1504=) c.4476T>C (p.Ala1492=) c.4329T>C (p.Ala1443=) n.375T>C c.582T>C (p.Ala194=) c.4270T>C (n.4270T>C) c.*1973T>C (n.*1973T>C) c.4152T>C (p.Ala1384=) n.5135T>C c.3974T>C c.2745T>C c.92T>C c.4282T>C (n.4282T>C) c.4494T>C (p.Ala1498=) c.4347T>C (p.Ala1449=) | |
| 4 | g.15597445T>G | CA438391129 | CC2D2A | c.4512T>G (p.Ala1504=) c.4476T>G (p.Ala1492=) c.4329T>G (p.Ala1443=) n.375T>G c.582T>G (p.Ala194=) c.4270T>G (n.4270T>G) c.*1973T>G (n.*1973T>G) c.4152T>G (p.Ala1384=) n.5135T>G c.3974T>G c.2745T>G c.92T>G c.4282T>G (n.4282T>G) c.4494T>G (p.Ala1498=) c.4347T>G (p.Ala1449=) | |
| 4 | g.15597446G>A | CA356432259 | CC2D2A | c.4513G>A (p.Ala1505Thr) c.4477G>A (p.Ala1493Thr) c.4330G>A (p.Ala1444Thr) n.376G>A c.583G>A (p.Ala195Thr) c.4271G>A (n.4271G>A) c.*1974G>A (n.*1974G>A) c.4153G>A (p.Ala1385Thr) n.5136G>A c.3975G>A c.2746G>A c.93G>A c.4283G>A (n.4283G>A) c.4495G>A (p.Ala1499Thr) c.4348G>A (p.Ala1450Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.15597446G>C | CA356432262 | CC2D2A | c.4513G>C (p.Ala1505Pro) c.4477G>C (p.Ala1493Pro) c.4330G>C (p.Ala1444Pro) n.376G>C c.583G>C (p.Ala195Pro) c.4271G>C (n.4271G>C) c.*1974G>C (n.*1974G>C) c.4153G>C (p.Ala1385Pro) n.5136G>C c.3975G>C c.2746G>C c.93G>C c.4283G>C (n.4283G>C) c.4495G>C (p.Ala1499Pro) c.4348G>C (p.Ala1450Pro) | |
| 4 | g.15597446G= | CA1440710542 | CC2D2A | c.4513G= (p.Ala1505=) c.4477G= (p.Ala1493=) c.4330G= (p.Ala1444=) n.376G= c.583G= (p.Ala195=) c.4271G= (n.4271G=) c.*1974G= (n.*1974G=) c.4153G= (p.Ala1385=) n.5136G= c.3975G= c.2746G= c.93G= c.4283G= (n.4283G=) c.4495G= (p.Ala1499=) c.4348G= (p.Ala1450=) | |
| 4 | g.15597446G>T | CA356432264 | CC2D2A | c.4513G>T (p.Ala1505Ser) c.4477G>T (p.Ala1493Ser) c.4330G>T (p.Ala1444Ser) n.376G>T c.583G>T (p.Ala195Ser) c.4271G>T (n.4271G>T) c.*1974G>T (n.*1974G>T) c.4153G>T (p.Ala1385Ser) n.5136G>T c.3975G>T c.2746G>T c.93G>T c.4283G>T (n.4283G>T) c.4495G>T (p.Ala1499Ser) c.4348G>T (p.Ala1450Ser) | dbSNP gnomAD v2 gnomAD v4 |