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 |
|---|---|---|---|---|---|
| 10 | g.53806701T>A | CA376516028 | PCDH15 | c.3960A>T c.5101A>T (p.Met1701Leu) c.4912A>T (p.Met1638Leu) c.4909A>T (p.Met1637Leu) c.1129A>T (p.Met377Leu) c.4924A>T (p.Met1642Leu) c.4906A>T (p.Met1636Leu) c.1261A>T (p.Met421Leu) c.4927A>T (p.Met1643Leu) c.5035A>T (p.Met1679Leu) n.11393A>T n.11384A>T | |
| 10 | g.53806701T>C | CA5504513 | PCDH15 | c.3960A>G c.5101A>G (p.Met1701Val) c.4912A>G (p.Met1638Val) c.4909A>G (p.Met1637Val) c.1129A>G (p.Met377Val) c.4924A>G (p.Met1642Val) c.4906A>G (p.Met1636Val) c.1261A>G (p.Met421Val) c.4927A>G (p.Met1643Val) c.5035A>G (p.Met1679Val) n.11393A>G n.11384A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.53806701T>G | CA376516030 | PCDH15 | c.3960A>C c.5101A>C (p.Met1701Leu) c.4912A>C (p.Met1638Leu) c.4909A>C (p.Met1637Leu) c.1129A>C (p.Met377Leu) c.4924A>C (p.Met1642Leu) c.4906A>C (p.Met1636Leu) c.1261A>C (p.Met421Leu) c.4927A>C (p.Met1643Leu) c.5035A>C (p.Met1679Leu) n.11393A>C n.11384A>C | |
| 10 | g.53806701T= | CA1910756027 | PCDH15 | c.3960A= c.5101A= (p.Met1701=) c.4912A= (p.Met1638=) c.4909A= (p.Met1637=) c.1129A= (p.Met377=) c.4924A= (p.Met1642=) c.4906A= (p.Met1636=) c.1261A= (p.Met421=) c.4927A= (p.Met1643=) c.5035A= (p.Met1679=) n.11393A= n.11384A= | |
| 10 | g.53806702G>A | CA469545853 | PCDH15 | c.3959C>T c.5100C>T (p.Ser1700=) c.4911C>T (p.Ser1637=) c.4908C>T (p.Ser1636=) c.1128C>T (p.Ser376=) c.4923C>T (p.Ser1641=) c.4905C>T (p.Ser1635=) c.1260C>T (p.Ser420=) c.4926C>T (p.Ser1642=) c.5034C>T (p.Ser1678=) n.11392C>T n.11383C>T | gnomAD v4 |
| 10 | g.53806702G>C | CA469545855 | PCDH15 | c.3959C>G c.5100C>G (p.Ser1700=) c.4911C>G (p.Ser1637=) c.4908C>G (p.Ser1636=) c.1128C>G (p.Ser376=) c.4923C>G (p.Ser1641=) c.4905C>G (p.Ser1635=) c.1260C>G (p.Ser420=) c.4926C>G (p.Ser1642=) c.5034C>G (p.Ser1678=) n.11392C>G n.11383C>G | dbSNP |
| 10 | g.53806702G= | CA1910756028 | PCDH15 | c.3959C= c.5100C= (p.Ser1700=) c.4911C= (p.Ser1637=) c.4908C= (p.Ser1636=) c.1128C= (p.Ser376=) c.4923C= (p.Ser1641=) c.4905C= (p.Ser1635=) c.1260C= (p.Ser420=) c.4926C= (p.Ser1642=) c.5034C= (p.Ser1678=) n.11392C= n.11383C= | |
| 10 | g.53806702G>T | CA469545854 | PCDH15 | c.3959C>A c.5100C>A (p.Ser1700=) c.4911C>A (p.Ser1637=) c.4908C>A (p.Ser1636=) c.1128C>A (p.Ser376=) c.4923C>A (p.Ser1641=) c.4905C>A (p.Ser1635=) c.1260C>A (p.Ser420=) c.4926C>A (p.Ser1642=) c.5034C>A (p.Ser1678=) n.11392C>A n.11383C>A | |
| 10 | g.53806703G>A | CA376516032 | PCDH15 | c.3958C>T c.5099C>T (p.Ser1700Phe) c.4910C>T (p.Ser1637Phe) c.4907C>T (p.Ser1636Phe) c.1127C>T (p.Ser376Phe) c.4922C>T (p.Ser1641Phe) c.4904C>T (p.Ser1635Phe) c.1259C>T (p.Ser420Phe) c.4925C>T (p.Ser1642Phe) c.5033C>T (p.Ser1678Phe) n.11391C>T n.11382C>T | |
| 10 | g.53806703G>C | CA376516034 | PCDH15 | c.3958C>G c.5099C>G (p.Ser1700Cys) c.4910C>G (p.Ser1637Cys) c.4907C>G (p.Ser1636Cys) c.1127C>G (p.Ser376Cys) c.4922C>G (p.Ser1641Cys) c.4904C>G (p.Ser1635Cys) c.1259C>G (p.Ser420Cys) c.4925C>G (p.Ser1642Cys) c.5033C>G (p.Ser1678Cys) n.11391C>G n.11382C>G | |
| 10 | g.53806703G>T | CA376516035 | PCDH15 | c.3958C>A c.5099C>A (p.Ser1700Tyr) c.4910C>A (p.Ser1637Tyr) c.4907C>A (p.Ser1636Tyr) c.1127C>A (p.Ser376Tyr) c.4922C>A (p.Ser1641Tyr) c.4904C>A (p.Ser1635Tyr) c.1259C>A (p.Ser420Tyr) c.4925C>A (p.Ser1642Tyr) c.5033C>A (p.Ser1678Tyr) n.11391C>A n.11382C>A | |
| 10 | g.53806704A= | CA1910756031 | PCDH15 | c.3957T= c.5098T= (p.Ser1700=) c.4909T= (p.Ser1637=) c.4906T= (p.Ser1636=) c.1126T= (p.Ser376=) c.4921T= (p.Ser1641=) c.4903T= (p.Ser1635=) c.1258T= (p.Ser420=) c.4924T= (p.Ser1642=) c.5032T= (p.Ser1678=) n.11390T= n.11381T= | |
| 10 | g.53806704A>C | CA376516039 | PCDH15 | c.3957T>G c.5098T>G (p.Ser1700Ala) c.4909T>G (p.Ser1637Ala) c.4906T>G (p.Ser1636Ala) c.1126T>G (p.Ser376Ala) c.4921T>G (p.Ser1641Ala) c.4903T>G (p.Ser1635Ala) c.1258T>G (p.Ser420Ala) c.4924T>G (p.Ser1642Ala) c.5032T>G (p.Ser1678Ala) n.11390T>G n.11381T>G | |
| 10 | g.53806704A>G | CA376516040 | PCDH15 | c.3957T>C c.5098T>C (p.Ser1700Pro) c.4909T>C (p.Ser1637Pro) c.4906T>C (p.Ser1636Pro) c.1126T>C (p.Ser376Pro) c.4921T>C (p.Ser1641Pro) c.4903T>C (p.Ser1635Pro) c.1258T>C (p.Ser420Pro) c.4924T>C (p.Ser1642Pro) c.5032T>C (p.Ser1678Pro) n.11390T>C n.11381T>C | |
| 10 | g.53806704A>T | CA207195804 | PCDH15 | c.3957T>A c.5098T>A (p.Ser1700Thr) c.4909T>A (p.Ser1637Thr) c.4906T>A (p.Ser1636Thr) c.1126T>A (p.Ser376Thr) c.4921T>A (p.Ser1641Thr) c.4903T>A (p.Ser1635Thr) c.1258T>A (p.Ser420Thr) c.4924T>A (p.Ser1642Thr) c.5032T>A (p.Ser1678Thr) n.11390T>A n.11381T>A | dbSNP gnomAD v4 |
| 10 | g.53806705C>A | CA376516042 | PCDH15 | c.3956G>T c.5097G>T (p.Glu1699Asp) c.4908G>T (p.Glu1636Asp) c.4905G>T (p.Glu1635Asp) c.1125G>T (p.Glu375Asp) c.4920G>T (p.Glu1640Asp) c.4902G>T (p.Glu1634Asp) c.1257G>T (p.Glu419Asp) c.4923G>T (p.Glu1641Asp) c.5031G>T (p.Glu1677Asp) n.11389G>T n.11380G>T | gnomAD v4 |
| 10 | g.53806705C>G | CA376516044 | PCDH15 | c.3956G>C c.5097G>C (p.Glu1699Asp) c.4908G>C (p.Glu1636Asp) c.4905G>C (p.Glu1635Asp) c.1125G>C (p.Glu375Asp) c.4920G>C (p.Glu1640Asp) c.4902G>C (p.Glu1634Asp) c.1257G>C (p.Glu419Asp) c.4923G>C (p.Glu1641Asp) c.5031G>C (p.Glu1677Asp) n.11389G>C n.11380G>C | |
| 10 | g.53806705C>T | CA469545856 | PCDH15 | c.3956G>A c.5097G>A (p.Glu1699=) c.4908G>A (p.Glu1636=) c.4905G>A (p.Glu1635=) c.1125G>A (p.Glu375=) c.4920G>A (p.Glu1640=) c.4902G>A (p.Glu1634=) c.1257G>A (p.Glu419=) c.4923G>A (p.Glu1641=) c.5031G>A (p.Glu1677=) n.11389G>A n.11380G>A | |
| 10 | g.53806707_53806709del | CA2574549911 | PCDH15 | c.3954_3956del c.5095_5097del (p.Glu1699del) c.4906_4908del (p.Glu1636del) c.4903_4905del (p.Glu1635del) c.1123_1125del (p.Glu375del) c.4918_4920del (p.Glu1640del) c.4900_4902del (p.Glu1634del) c.1255_1257del (p.Glu419del) c.4921_4923del (p.Glu1641del) c.5029_5031del (p.Glu1677del) n.11387_11389del n.11378_11380del | |
| 10 | g.53806706T>A | CA376516046 | PCDH15 | c.3955A>T c.5096A>T (p.Glu1699Val) c.4907A>T (p.Glu1636Val) c.4904A>T (p.Glu1635Val) c.1124A>T (p.Glu375Val) c.4919A>T (p.Glu1640Val) c.4901A>T (p.Glu1634Val) c.1256A>T (p.Glu419Val) c.4922A>T (p.Glu1641Val) c.5030A>T (p.Glu1677Val) n.11388A>T n.11379A>T | |
| 10 | g.53806706T>C | CA376516047 | PCDH15 | c.3955A>G c.5096A>G (p.Glu1699Gly) c.4907A>G (p.Glu1636Gly) c.4904A>G (p.Glu1635Gly) c.1124A>G (p.Glu375Gly) c.4919A>G (p.Glu1640Gly) c.4901A>G (p.Glu1634Gly) c.1256A>G (p.Glu419Gly) c.4922A>G (p.Glu1641Gly) c.5030A>G (p.Glu1677Gly) n.11388A>G n.11379A>G | |
| 10 | g.53806706T>G | CA376516048 | PCDH15 | c.3955A>C c.5096A>C (p.Glu1699Ala) c.4907A>C (p.Glu1636Ala) c.4904A>C (p.Glu1635Ala) c.1124A>C (p.Glu375Ala) c.4919A>C (p.Glu1640Ala) c.4901A>C (p.Glu1634Ala) c.1256A>C (p.Glu419Ala) c.4922A>C (p.Glu1641Ala) c.5030A>C (p.Glu1677Ala) n.11388A>C n.11379A>C | |
| 10 | g.53806707C>A | CA376516053 | PCDH15 | c.3954G>T c.5095G>T (p.Glu1699Ter) c.4906G>T (p.Glu1636Ter) c.4903G>T (p.Glu1635Ter) c.1123G>T (p.Glu375Ter) c.4918G>T (p.Glu1640Ter) c.4900G>T (p.Glu1634Ter) c.1255G>T (p.Glu419Ter) c.4921G>T (p.Glu1641Ter) c.5029G>T (p.Glu1677Ter) n.11387G>T n.11378G>T | dbSNP |
| 10 | g.53806707C= | CA1910756034 | PCDH15 | c.3954G= c.5095G= (p.Glu1699=) c.4906G= (p.Glu1636=) c.4903G= (p.Glu1635=) c.1123G= (p.Glu375=) c.4918G= (p.Glu1640=) c.4900G= (p.Glu1634=) c.1255G= (p.Glu419=) c.4921G= (p.Glu1641=) c.5029G= (p.Glu1677=) n.11387G= n.11378G= | |
| 10 | g.53806707C>G | CA376516050 | PCDH15 | c.3954G>C c.5095G>C (p.Glu1699Gln) c.4906G>C (p.Glu1636Gln) c.4903G>C (p.Glu1635Gln) c.1123G>C (p.Glu375Gln) c.4918G>C (p.Glu1640Gln) c.4900G>C (p.Glu1634Gln) c.1255G>C (p.Glu419Gln) c.4921G>C (p.Glu1641Gln) c.5029G>C (p.Glu1677Gln) n.11387G>C n.11378G>C | |
| 10 | g.53806707C>T | CA376516052 | PCDH15 | c.3954G>A c.5095G>A (p.Glu1699Lys) c.4906G>A (p.Glu1636Lys) c.4903G>A (p.Glu1635Lys) c.1123G>A (p.Glu375Lys) c.4918G>A (p.Glu1640Lys) c.4900G>A (p.Glu1634Lys) c.1255G>A (p.Glu419Lys) c.4921G>A (p.Glu1641Lys) c.5029G>A (p.Glu1677Lys) n.11387G>A n.11378G>A | gnomAD v4 |
| 10 | g.53806708C>A | CA376516055 | PCDH15 | c.3953G>T c.5094G>T (p.Gln1698His) c.4905G>T (p.Gln1635His) c.4902G>T (p.Gln1634His) c.1122G>T (p.Gln374His) c.4917G>T (p.Gln1639His) c.4899G>T (p.Gln1633His) c.1254G>T (p.Gln418His) c.4920G>T (p.Gln1640His) c.5028G>T (p.Gln1676His) n.11386G>T n.11377G>T | gnomAD v4 |
| 10 | g.53806708C>G | CA376516056 | PCDH15 | c.3953G>C c.5094G>C (p.Gln1698His) c.4905G>C (p.Gln1635His) c.4902G>C (p.Gln1634His) c.1122G>C (p.Gln374His) c.4917G>C (p.Gln1639His) c.4899G>C (p.Gln1633His) c.1254G>C (p.Gln418His) c.4920G>C (p.Gln1640His) c.5028G>C (p.Gln1676His) n.11386G>C n.11377G>C | gnomAD v4 |
| 10 | g.53806708C>T | CA469545857 | PCDH15 | c.3953G>A c.5094G>A (p.Gln1698=) c.4905G>A (p.Gln1635=) c.4902G>A (p.Gln1634=) c.1122G>A (p.Gln374=) c.4917G>A (p.Gln1639=) c.4899G>A (p.Gln1633=) c.1254G>A (p.Gln418=) c.4920G>A (p.Gln1640=) c.5028G>A (p.Gln1676=) n.11386G>A n.11377G>A | |
| 10 | g.53806709T>A | CA376516058 | PCDH15 | c.3952A>T c.5093A>T (p.Gln1698Leu) c.4904A>T (p.Gln1635Leu) c.4901A>T (p.Gln1634Leu) c.1121A>T (p.Gln374Leu) c.4916A>T (p.Gln1639Leu) c.4898A>T (p.Gln1633Leu) c.1253A>T (p.Gln418Leu) c.4919A>T (p.Gln1640Leu) c.5027A>T (p.Gln1676Leu) n.11385A>T n.11376A>T | COSMIC |
| 10 | g.53806709T>C | CA376516059 | PCDH15 | c.3952A>G c.5093A>G (p.Gln1698Arg) c.4904A>G (p.Gln1635Arg) c.4901A>G (p.Gln1634Arg) c.1121A>G (p.Gln374Arg) c.4916A>G (p.Gln1639Arg) c.4898A>G (p.Gln1633Arg) c.1253A>G (p.Gln418Arg) c.4919A>G (p.Gln1640Arg) c.5027A>G (p.Gln1676Arg) n.11385A>G n.11376A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.53806709T>G | CA376516060 | PCDH15 | c.3952A>C c.5093A>C (p.Gln1698Pro) c.4904A>C (p.Gln1635Pro) c.4901A>C (p.Gln1634Pro) c.1121A>C (p.Gln374Pro) c.4916A>C (p.Gln1639Pro) c.4898A>C (p.Gln1633Pro) c.1253A>C (p.Gln418Pro) c.4919A>C (p.Gln1640Pro) c.5027A>C (p.Gln1676Pro) n.11385A>C n.11376A>C | |
| 10 | g.53806709T= | CA1910756039 | PCDH15 | c.3952A= c.5093A= (p.Gln1698=) c.4904A= (p.Gln1635=) c.4901A= (p.Gln1634=) c.1121A= (p.Gln374=) c.4916A= (p.Gln1639=) c.4898A= (p.Gln1633=) c.1253A= (p.Gln418=) c.4919A= (p.Gln1640=) c.5027A= (p.Gln1676=) n.11385A= n.11376A= | |
| 10 | g.53806710G>A | CA376516065 | PCDH15 | c.3951C>T c.5092C>T (p.Gln1698Ter) c.4903C>T (p.Gln1635Ter) c.4900C>T (p.Gln1634Ter) c.1120C>T (p.Gln374Ter) c.4915C>T (p.Gln1639Ter) c.4897C>T (p.Gln1633Ter) c.1252C>T (p.Gln418Ter) c.4918C>T (p.Gln1640Ter) c.5026C>T (p.Gln1676Ter) n.11384C>T n.11375C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.53806710G>C | CA376516064 | PCDH15 | c.3951C>G c.5092C>G (p.Gln1698Glu) c.4903C>G (p.Gln1635Glu) c.4900C>G (p.Gln1634Glu) c.1120C>G (p.Gln374Glu) c.4915C>G (p.Gln1639Glu) c.4897C>G (p.Gln1633Glu) c.1252C>G (p.Gln418Glu) c.4918C>G (p.Gln1640Glu) c.5026C>G (p.Gln1676Glu) n.11384C>G n.11375C>G | |
| 10 | g.53806710G= | CA1910756046 | PCDH15 | c.3951C= c.5092C= (p.Gln1698=) c.4903C= (p.Gln1635=) c.4900C= (p.Gln1634=) c.1120C= (p.Gln374=) c.4915C= (p.Gln1639=) c.4897C= (p.Gln1633=) c.1252C= (p.Gln418=) c.4918C= (p.Gln1640=) c.5026C= (p.Gln1676=) n.11384C= n.11375C= | |
| 10 | g.53806710G>T | CA376516062 | PCDH15 | c.3951C>A c.5092C>A (p.Gln1698Lys) c.4903C>A (p.Gln1635Lys) c.4900C>A (p.Gln1634Lys) c.1120C>A (p.Gln374Lys) c.4915C>A (p.Gln1639Lys) c.4897C>A (p.Gln1633Lys) c.1252C>A (p.Gln418Lys) c.4918C>A (p.Gln1640Lys) c.5026C>A (p.Gln1676Lys) n.11384C>A n.11375C>A | |
| 10 | g.53806711T>A | CA376516067 | PCDH15 | c.3950A>T c.5091A>T (p.Glu1697Asp) c.4902A>T (p.Glu1634Asp) c.4899A>T (p.Glu1633Asp) c.1119A>T (p.Glu373Asp) c.4914A>T (p.Glu1638Asp) c.4896A>T (p.Glu1632Asp) c.1251A>T (p.Glu417Asp) c.4917A>T (p.Glu1639Asp) c.5025A>T (p.Glu1675Asp) n.11383A>T n.11374A>T | gnomAD v4 |
| 10 | g.53806711T>C | CA469545858 | PCDH15 | c.3950A>G c.5091A>G (p.Glu1697=) c.4902A>G (p.Glu1634=) c.4899A>G (p.Glu1633=) c.1119A>G (p.Glu373=) c.4914A>G (p.Glu1638=) c.4896A>G (p.Glu1632=) c.1251A>G (p.Glu417=) c.4917A>G (p.Glu1639=) c.5025A>G (p.Glu1675=) n.11383A>G n.11374A>G | |
| 10 | g.53806711T>G | CA376516069 | PCDH15 | c.3950A>C c.5091A>C (p.Glu1697Asp) c.4902A>C (p.Glu1634Asp) c.4899A>C (p.Glu1633Asp) c.1119A>C (p.Glu373Asp) c.4914A>C (p.Glu1638Asp) c.4896A>C (p.Glu1632Asp) c.1251A>C (p.Glu417Asp) c.4917A>C (p.Glu1639Asp) c.5025A>C (p.Glu1675Asp) n.11383A>C n.11374A>C | |
| 10 | g.53806712T>A | CA376516070 | PCDH15 | c.3949A>T c.5090A>T (p.Glu1697Val) c.4901A>T (p.Glu1634Val) c.4898A>T (p.Glu1633Val) c.1118A>T (p.Glu373Val) c.4913A>T (p.Glu1638Val) c.4895A>T (p.Glu1632Val) c.1250A>T (p.Glu417Val) c.4916A>T (p.Glu1639Val) c.5024A>T (p.Glu1675Val) n.11382A>T n.11373A>T | |
| 10 | g.53806712T>C | CA376516072 | PCDH15 | c.3949A>G c.5090A>G (p.Glu1697Gly) c.4901A>G (p.Glu1634Gly) c.4898A>G (p.Glu1633Gly) c.1118A>G (p.Glu373Gly) c.4913A>G (p.Glu1638Gly) c.4895A>G (p.Glu1632Gly) c.1250A>G (p.Glu417Gly) c.4916A>G (p.Glu1639Gly) c.5024A>G (p.Glu1675Gly) n.11382A>G n.11373A>G | |
| 10 | g.53806712T>G | CA376516073 | PCDH15 | c.3949A>C c.5090A>C (p.Glu1697Ala) c.4901A>C (p.Glu1634Ala) c.4898A>C (p.Glu1633Ala) c.1118A>C (p.Glu373Ala) c.4913A>C (p.Glu1638Ala) c.4895A>C (p.Glu1632Ala) c.1250A>C (p.Glu417Ala) c.4916A>C (p.Glu1639Ala) c.5024A>C (p.Glu1675Ala) n.11382A>C n.11373A>C | |
| 10 | g.53806712_53806720del | CA912970255 | PCDH15 | c.3941_3949del c.5082_5090del (p.Ser1694_Glu1697delinsArg) c.4893_4901del (p.Ser1631_Glu1634delinsArg) c.4890_4898del (p.Ser1630_Glu1633delinsArg) c.1110_1118del (p.Ser370_Glu373delinsArg) c.4905_4913del (p.Ser1635_Glu1638delinsArg) c.4887_4895del (p.Ser1629_Glu1632delinsArg) c.1242_1250del (p.Ser414_Glu417delinsArg) c.4908_4916del (p.Ser1636_Glu1639delinsArg) c.5016_5024del (p.Ser1672_Glu1675delinsArg) n.11374_11382del n.11365_11373del | |
| 10 | g.53806712_53806720delinsTCAACTGTG | CA1910756050 | PCDH15 | c.3941_3949delinsCACAGTTGA c.5082_5090delinsCACAGTTGA (p.Ser1694=) c.4893_4901delinsCACAGTTGA (p.Ser1631=) c.4890_4898delinsCACAGTTGA (p.Ser1630=) c.1110_1118delinsCACAGTTGA (p.Ser370=) c.4905_4913delinsCACAGTTGA (p.Ser1635=) c.4887_4895delinsCACAGTTGA (p.Ser1629=) c.1242_1250delinsCACAGTTGA (p.Ser414=) c.4908_4916delinsCACAGTTGA (p.Ser1636=) c.5016_5024delinsCACAGTTGA (p.Ser1672=) n.11374_11382delinsCACAGTTGA n.11365_11373delinsCACAGTTGA | |
| 10 | g.53806713C>A | CA376516076 | PCDH15 | c.3948G>T c.5089G>T (p.Glu1697Ter) c.4900G>T (p.Glu1634Ter) c.4897G>T (p.Glu1633Ter) c.1117G>T (p.Glu373Ter) c.4912G>T (p.Glu1638Ter) c.4894G>T (p.Glu1632Ter) c.1249G>T (p.Glu417Ter) c.4915G>T (p.Glu1639Ter) c.5023G>T (p.Glu1675Ter) n.11381G>T n.11372G>T | |
| 10 | g.53806713C>G | CA376516075 | PCDH15 | c.3948G>C c.5089G>C (p.Glu1697Gln) c.4900G>C (p.Glu1634Gln) c.4897G>C (p.Glu1633Gln) c.1117G>C (p.Glu373Gln) c.4912G>C (p.Glu1638Gln) c.4894G>C (p.Glu1632Gln) c.1249G>C (p.Glu417Gln) c.4915G>C (p.Glu1639Gln) c.5023G>C (p.Glu1675Gln) n.11381G>C n.11372G>C | |
| 10 | g.53806713C>T | CA376516074 | PCDH15 | c.3948G>A c.5089G>A (p.Glu1697Lys) c.4900G>A (p.Glu1634Lys) c.4897G>A (p.Glu1633Lys) c.1117G>A (p.Glu373Lys) c.4912G>A (p.Glu1638Lys) c.4894G>A (p.Glu1632Lys) c.1249G>A (p.Glu417Lys) c.4915G>A (p.Glu1639Lys) c.5023G>A (p.Glu1675Lys) n.11381G>A n.11372G>A | |
| 10 | g.53806714_53806721del | CA658822068 | PCDH15 | c.3941_3948del c.5082_5089del (p.Ser1694ArgfsTer7) c.4893_4900del (p.Ser1631ArgfsTer7) c.4890_4897del (p.Ser1630ArgfsTer7) c.1110_1117del (p.Ser370ArgfsTer7) c.4905_4912del (p.Ser1635ArgfsTer7) c.4887_4894del (p.Ser1629ArgfsTer7) c.1242_1249del (p.Ser414ArgfsTer7) c.4908_4915del (p.Ser1636ArgfsTer7) c.5016_5023del (p.Ser1672ArgfsTer7) n.11374_11381del n.11365_11372del | ClinVar dbSNP |
| 10 | g.53806714A>C | CA469545859 | PCDH15 | c.3947T>G c.5088T>G (p.Val1696=) c.4899T>G (p.Val1633=) c.4896T>G (p.Val1632=) c.1116T>G (p.Val372=) c.4911T>G (p.Val1637=) c.4893T>G (p.Val1631=) c.1248T>G (p.Val416=) c.4914T>G (p.Val1638=) c.5022T>G (p.Val1674=) n.11380T>G n.11371T>G |