Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
10 | g.53806714A>G | CA469545860 | PCDH15 | c.3947T>C c.5088T>C (p.Val1696=) c.4899T>C (p.Val1633=) c.4896T>C (p.Val1632=) c.1116T>C (p.Val372=) c.4911T>C (p.Val1637=) c.4893T>C (p.Val1631=) c.1248T>C (p.Val416=) c.4914T>C (p.Val1638=) c.5022T>C (p.Val1674=) n.11380T>C n.11371T>C | |
10 | g.53806714A>T | CA469545861 | PCDH15 | c.3947T>A c.5088T>A (p.Val1696=) c.4899T>A (p.Val1633=) c.4896T>A (p.Val1632=) c.1116T>A (p.Val372=) c.4911T>A (p.Val1637=) c.4893T>A (p.Val1631=) c.1248T>A (p.Val416=) c.4914T>A (p.Val1638=) c.5022T>A (p.Val1674=) n.11380T>A n.11371T>A | |
10 | g.53806715A= | CA1910756066 | PCDH15 | c.3946T= c.5087T= (p.Val1696=) c.4898T= (p.Val1633=) c.4895T= (p.Val1632=) c.1115T= (p.Val372=) c.4910T= (p.Val1637=) c.4892T= (p.Val1631=) c.1247T= (p.Val416=) c.4913T= (p.Val1638=) c.5021T= (p.Val1674=) n.11379T= n.11370T= | |
10 | g.53806715A>C | CA376516077 | PCDH15 | c.3946T>G c.5087T>G (p.Val1696Gly) c.4898T>G (p.Val1633Gly) c.4895T>G (p.Val1632Gly) c.1115T>G (p.Val372Gly) c.4910T>G (p.Val1637Gly) c.4892T>G (p.Val1631Gly) c.1247T>G (p.Val416Gly) c.4913T>G (p.Val1638Gly) c.5021T>G (p.Val1674Gly) n.11379T>G n.11370T>G | |
10 | g.53806715A>G | CA5504514 | PCDH15 | c.3946T>C c.5087T>C (p.Val1696Ala) c.4898T>C (p.Val1633Ala) c.4895T>C (p.Val1632Ala) c.1115T>C (p.Val372Ala) c.4910T>C (p.Val1637Ala) c.4892T>C (p.Val1631Ala) c.1247T>C (p.Val416Ala) c.4913T>C (p.Val1638Ala) c.5021T>C (p.Val1674Ala) n.11379T>C n.11370T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806715A>T | CA376516078 | PCDH15 | c.3946T>A c.5087T>A (p.Val1696Asp) c.4898T>A (p.Val1633Asp) c.4895T>A (p.Val1632Asp) c.1115T>A (p.Val372Asp) c.4910T>A (p.Val1637Asp) c.4892T>A (p.Val1631Asp) c.1247T>A (p.Val416Asp) c.4913T>A (p.Val1638Asp) c.5021T>A (p.Val1674Asp) n.11379T>A n.11370T>A | |
10 | g.53806716C>A | CA376516079 | PCDH15 | c.3945G>T c.5086G>T (p.Val1696Phe) c.4897G>T (p.Val1633Phe) c.4894G>T (p.Val1632Phe) c.1114G>T (p.Val372Phe) c.4909G>T (p.Val1637Phe) c.4891G>T (p.Val1631Phe) c.1246G>T (p.Val416Phe) c.4912G>T (p.Val1638Phe) c.5020G>T (p.Val1674Phe) n.11378G>T n.11369G>T | |
10 | g.53806716C>G | CA376516080 | PCDH15 | c.3945G>C c.5086G>C (p.Val1696Leu) c.4897G>C (p.Val1633Leu) c.4894G>C (p.Val1632Leu) c.1114G>C (p.Val372Leu) c.4909G>C (p.Val1637Leu) c.4891G>C (p.Val1631Leu) c.1246G>C (p.Val416Leu) c.4912G>C (p.Val1638Leu) c.5020G>C (p.Val1674Leu) n.11378G>C n.11369G>C | |
10 | g.53806716C>T | CA376516081 | PCDH15 | c.3945G>A c.5086G>A (p.Val1696Ile) c.4897G>A (p.Val1633Ile) c.4894G>A (p.Val1632Ile) c.1114G>A (p.Val372Ile) c.4909G>A (p.Val1637Ile) c.4891G>A (p.Val1631Ile) c.1246G>A (p.Val416Ile) c.4912G>A (p.Val1638Ile) c.5020G>A (p.Val1674Ile) n.11378G>A n.11369G>A | |
10 | g.53806716_53806718del | CA912970256 | PCDH15 | c.3943_3945del c.5084_5086del (p.Thr1695_Val1696delinsIle) c.4895_4897del (p.Thr1632_Val1633delinsIle) c.4892_4894del (p.Thr1631_Val1632delinsIle) c.1112_1114del (p.Thr371_Val372delinsIle) c.4907_4909del (p.Thr1636_Val1637delinsIle) c.4889_4891del (p.Thr1630_Val1631delinsIle) c.1244_1246del (p.Thr415_Val416delinsIle) c.4910_4912del (p.Thr1637_Val1638delinsIle) c.5018_5020del (p.Thr1673_Val1674delinsIle) n.11376_11378del n.11367_11369del | |
10 | g.53806716_53806718delinsCTG | CA1910756069 | PCDH15 | c.3943_3945delinsCAG c.5084_5086delinsCAG (p.Thr1695=) c.4895_4897delinsCAG (p.Thr1632=) c.4892_4894delinsCAG (p.Thr1631=) c.1112_1114delinsCAG (p.Thr371=) c.4907_4909delinsCAG (p.Thr1636=) c.4889_4891delinsCAG (p.Thr1630=) c.1244_1246delinsCAG (p.Thr415=) c.4910_4912delinsCAG (p.Thr1637=) c.5018_5020delinsCAG (p.Thr1673=) n.11376_11378delinsCAG n.11367_11369delinsCAG | |
10 | g.53806717T>A | CA469545864 | PCDH15 | c.3944A>T c.5085A>T (p.Thr1695=) c.4896A>T (p.Thr1632=) c.4893A>T (p.Thr1631=) c.1113A>T (p.Thr371=) c.4908A>T (p.Thr1636=) c.4890A>T (p.Thr1630=) c.1245A>T (p.Thr415=) c.4911A>T (p.Thr1637=) c.5019A>T (p.Thr1673=) n.11377A>T n.11368A>T | |
10 | g.53806717T>C | CA469545862 | PCDH15 | c.3944A>G c.5085A>G (p.Thr1695=) c.4896A>G (p.Thr1632=) c.4893A>G (p.Thr1631=) c.1113A>G (p.Thr371=) c.4908A>G (p.Thr1636=) c.4890A>G (p.Thr1630=) c.1245A>G (p.Thr415=) c.4911A>G (p.Thr1637=) c.5019A>G (p.Thr1673=) n.11377A>G n.11368A>G | dbSNP |
10 | g.53806717T>G | CA469545863 | PCDH15 | c.3944A>C c.5085A>C (p.Thr1695=) c.4896A>C (p.Thr1632=) c.4893A>C (p.Thr1631=) c.1113A>C (p.Thr371=) c.4908A>C (p.Thr1636=) c.4890A>C (p.Thr1630=) c.1245A>C (p.Thr415=) c.4911A>C (p.Thr1637=) c.5019A>C (p.Thr1673=) n.11377A>C n.11368A>C | gnomAD v4 |
10 | g.53806717T= | CA1910756078 | PCDH15 | c.3944A= c.5085A= (p.Thr1695=) c.4896A= (p.Thr1632=) c.4893A= (p.Thr1631=) c.1113A= (p.Thr371=) c.4908A= (p.Thr1636=) c.4890A= (p.Thr1630=) c.1245A= (p.Thr415=) c.4911A= (p.Thr1637=) c.5019A= (p.Thr1673=) n.11377A= n.11368A= | |
10 | g.53806719_53806720del | CA658822069 | PCDH15 | c.3943_3944del c.5084_5085del (p.Thr1695SerfsTer2) c.4895_4896del (p.Thr1632SerfsTer2) c.4892_4893del (p.Thr1631SerfsTer2) c.1112_1113del (p.Thr371SerfsTer2) c.4907_4908del (p.Thr1636SerfsTer2) c.4889_4890del (p.Thr1630SerfsTer2) c.1244_1245del (p.Thr415SerfsTer2) c.4910_4911del (p.Thr1637SerfsTer2) c.5018_5019del (p.Thr1673SerfsTer2) n.11376_11377del n.11367_11368del | ClinVar dbSNP |
10 | g.53806718G>A | CA376516086 | PCDH15 | c.3943C>T c.5084C>T (p.Thr1695Ile) c.4895C>T (p.Thr1632Ile) c.4892C>T (p.Thr1631Ile) c.1112C>T (p.Thr371Ile) c.4907C>T (p.Thr1636Ile) c.4889C>T (p.Thr1630Ile) c.1244C>T (p.Thr415Ile) c.4910C>T (p.Thr1637Ile) c.5018C>T (p.Thr1673Ile) n.11376C>T n.11367C>T | |
10 | g.53806718G>C | CA376516083 | PCDH15 | c.3943C>G c.5084C>G (p.Thr1695Arg) c.4895C>G (p.Thr1632Arg) c.4892C>G (p.Thr1631Arg) c.1112C>G (p.Thr371Arg) c.4907C>G (p.Thr1636Arg) c.4889C>G (p.Thr1630Arg) c.1244C>G (p.Thr415Arg) c.4910C>G (p.Thr1637Arg) c.5018C>G (p.Thr1673Arg) n.11376C>G n.11367C>G | COSMIC |
10 | g.53806718G>T | CA376516084 | PCDH15 | c.3943C>A c.5084C>A (p.Thr1695Lys) c.4895C>A (p.Thr1632Lys) c.4892C>A (p.Thr1631Lys) c.1112C>A (p.Thr371Lys) c.4907C>A (p.Thr1636Lys) c.4889C>A (p.Thr1630Lys) c.1244C>A (p.Thr415Lys) c.4910C>A (p.Thr1637Lys) c.5018C>A (p.Thr1673Lys) n.11376C>A n.11367C>A | |
10 | g.53806719T>A | CA376516087 | PCDH15 | c.3942A>T c.5083A>T (p.Thr1695Ser) c.4894A>T (p.Thr1632Ser) c.4891A>T (p.Thr1631Ser) c.1111A>T (p.Thr371Ser) c.4906A>T (p.Thr1636Ser) c.4888A>T (p.Thr1630Ser) c.1243A>T (p.Thr415Ser) c.4909A>T (p.Thr1637Ser) c.5017A>T (p.Thr1673Ser) n.11375A>T n.11366A>T | |
10 | g.53806719T>C | CA376516089 | PCDH15 | c.3942A>G c.5083A>G (p.Thr1695Ala) c.4894A>G (p.Thr1632Ala) c.4891A>G (p.Thr1631Ala) c.1111A>G (p.Thr371Ala) c.4906A>G (p.Thr1636Ala) c.4888A>G (p.Thr1630Ala) c.1243A>G (p.Thr415Ala) c.4909A>G (p.Thr1637Ala) c.5017A>G (p.Thr1673Ala) n.11375A>G n.11366A>G | gnomAD v4 |
10 | g.53806719T>G | CA376516091 | PCDH15 | c.3942A>C c.5083A>C (p.Thr1695Pro) c.4894A>C (p.Thr1632Pro) c.4891A>C (p.Thr1631Pro) c.1111A>C (p.Thr371Pro) c.4906A>C (p.Thr1636Pro) c.4888A>C (p.Thr1630Pro) c.1243A>C (p.Thr415Pro) c.4909A>C (p.Thr1637Pro) c.5017A>C (p.Thr1673Pro) n.11375A>C n.11366A>C | dbSNP |
10 | g.53806719T= | CA1910756082 | PCDH15 | c.3942A= c.5083A= (p.Thr1695=) c.4894A= (p.Thr1632=) c.4891A= (p.Thr1631=) c.1111A= (p.Thr371=) c.4906A= (p.Thr1636=) c.4888A= (p.Thr1630=) c.1243A= (p.Thr415=) c.4909A= (p.Thr1637=) c.5017A= (p.Thr1673=) n.11375A= n.11366A= | |
10 | g.53806720G>A | CA469545865 | PCDH15 | c.3941C>T c.5082C>T (p.Ser1694=) c.4893C>T (p.Ser1631=) c.4890C>T (p.Ser1630=) c.1110C>T (p.Ser370=) c.4905C>T (p.Ser1635=) c.4887C>T (p.Ser1629=) c.1242C>T (p.Ser414=) c.4908C>T (p.Ser1636=) c.5016C>T (p.Ser1672=) n.11374C>T n.11365C>T | |
10 | g.53806720G>C | CA376516094 | PCDH15 | c.3941C>G c.5082C>G (p.Ser1694Arg) c.4893C>G (p.Ser1631Arg) c.4890C>G (p.Ser1630Arg) c.1110C>G (p.Ser370Arg) c.4905C>G (p.Ser1635Arg) c.4887C>G (p.Ser1629Arg) c.1242C>G (p.Ser414Arg) c.4908C>G (p.Ser1636Arg) c.5016C>G (p.Ser1672Arg) n.11374C>G n.11365C>G | |
10 | g.53806720G>T | CA376516096 | PCDH15 | c.3941C>A c.5082C>A (p.Ser1694Arg) c.4893C>A (p.Ser1631Arg) c.4890C>A (p.Ser1630Arg) c.1110C>A (p.Ser370Arg) c.4905C>A (p.Ser1635Arg) c.4887C>A (p.Ser1629Arg) c.1242C>A (p.Ser414Arg) c.4908C>A (p.Ser1636Arg) c.5016C>A (p.Ser1672Arg) n.11374C>A n.11365C>A | |
10 | g.53806721C>A | CA376516098 | PCDH15 | c.3940G>T c.5081G>T (p.Ser1694Ile) c.4892G>T (p.Ser1631Ile) c.4889G>T (p.Ser1630Ile) c.1109G>T (p.Ser370Ile) c.4904G>T (p.Ser1635Ile) c.4886G>T (p.Ser1629Ile) c.1241G>T (p.Ser414Ile) c.4907G>T (p.Ser1636Ile) c.5015G>T (p.Ser1672Ile) n.11373G>T n.11364G>T | |
10 | g.53806721C= | CA1910756086 | PCDH15 | c.3940G= c.5081G= (p.Ser1694=) c.4892G= (p.Ser1631=) c.4889G= (p.Ser1630=) c.1109G= (p.Ser370=) c.4904G= (p.Ser1635=) c.4886G= (p.Ser1629=) c.1241G= (p.Ser414=) c.4907G= (p.Ser1636=) c.5015G= (p.Ser1672=) n.11373G= n.11364G= | |
10 | g.53806721C>G | CA376516100 | PCDH15 | c.3940G>C c.5081G>C (p.Ser1694Thr) c.4892G>C (p.Ser1631Thr) c.4889G>C (p.Ser1630Thr) c.1109G>C (p.Ser370Thr) c.4904G>C (p.Ser1635Thr) c.4886G>C (p.Ser1629Thr) c.1241G>C (p.Ser414Thr) c.4907G>C (p.Ser1636Thr) c.5015G>C (p.Ser1672Thr) n.11373G>C n.11364G>C | dbSNP gnomAD v4 |
10 | g.53806721C>T | CA376516101 | PCDH15 | c.3940G>A c.5081G>A (p.Ser1694Asn) c.4892G>A (p.Ser1631Asn) c.4889G>A (p.Ser1630Asn) c.1109G>A (p.Ser370Asn) c.4904G>A (p.Ser1635Asn) c.4886G>A (p.Ser1629Asn) c.1241G>A (p.Ser414Asn) c.4907G>A (p.Ser1636Asn) c.5015G>A (p.Ser1672Asn) n.11373G>A n.11364G>A | |
10 | g.53806722T>A | CA376516102 | PCDH15 | c.3939A>T c.5080A>T (p.Ser1694Cys) c.4891A>T (p.Ser1631Cys) c.4888A>T (p.Ser1630Cys) c.1108A>T (p.Ser370Cys) c.4903A>T (p.Ser1635Cys) c.4885A>T (p.Ser1629Cys) c.1240A>T (p.Ser414Cys) c.4906A>T (p.Ser1636Cys) c.5014A>T (p.Ser1672Cys) n.11372A>T n.11363A>T | |
10 | g.53806722T>C | CA376516103 | PCDH15 | c.3939A>G c.5080A>G (p.Ser1694Gly) c.4891A>G (p.Ser1631Gly) c.4888A>G (p.Ser1630Gly) c.1108A>G (p.Ser370Gly) c.4903A>G (p.Ser1635Gly) c.4885A>G (p.Ser1629Gly) c.1240A>G (p.Ser414Gly) c.4906A>G (p.Ser1636Gly) c.5014A>G (p.Ser1672Gly) n.11372A>G n.11363A>G | dbSNP |
10 | g.53806722T>G | CA376516104 | PCDH15 | c.3939A>C c.5080A>C (p.Ser1694Arg) c.4891A>C (p.Ser1631Arg) c.4888A>C (p.Ser1630Arg) c.1108A>C (p.Ser370Arg) c.4903A>C (p.Ser1635Arg) c.4885A>C (p.Ser1629Arg) c.1240A>C (p.Ser414Arg) c.4906A>C (p.Ser1636Arg) c.5014A>C (p.Ser1672Arg) n.11372A>C n.11363A>C | |
10 | g.53806722T= | CA1910756092 | PCDH15 | c.3939A= c.5080A= (p.Ser1694=) c.4891A= (p.Ser1631=) c.4888A= (p.Ser1630=) c.1108A= (p.Ser370=) c.4903A= (p.Ser1635=) c.4885A= (p.Ser1629=) c.1240A= (p.Ser414=) c.4906A= (p.Ser1636=) c.5014A= (p.Ser1672=) n.11372A= n.11363A= | |
10 | g.53806723T>A | CA207195808 | PCDH15 | c.3938A>T c.5079A>T (p.Lys1693Asn) c.4890A>T (p.Lys1630Asn) c.4887A>T (p.Lys1629Asn) c.1107A>T (p.Lys369Asn) c.4902A>T (p.Lys1634Asn) c.4884A>T (p.Lys1628Asn) c.1239A>T (p.Lys413Asn) c.4905A>T (p.Lys1635Asn) c.5013A>T (p.Lys1671Asn) n.11371A>T n.11362A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806723T>C | CA469545866 | PCDH15 | c.3938A>G c.5079A>G (p.Lys1693=) c.4890A>G (p.Lys1630=) c.4887A>G (p.Lys1629=) c.1107A>G (p.Lys369=) c.4902A>G (p.Lys1634=) c.4884A>G (p.Lys1628=) c.1239A>G (p.Lys413=) c.4905A>G (p.Lys1635=) c.5013A>G (p.Lys1671=) n.11371A>G n.11362A>G | |
10 | g.53806723T>G | CA5504515 | PCDH15 | c.3938A>C c.5079A>C (p.Lys1693Asn) c.4890A>C (p.Lys1630Asn) c.4887A>C (p.Lys1629Asn) c.1107A>C (p.Lys369Asn) c.4902A>C (p.Lys1634Asn) c.4884A>C (p.Lys1628Asn) c.1239A>C (p.Lys413Asn) c.4905A>C (p.Lys1635Asn) c.5013A>C (p.Lys1671Asn) n.11371A>C n.11362A>C | dbSNP ExAC gnomAD v4 |
10 | g.53806723T= | CA1910756098 | PCDH15 | c.3938A= c.5079A= (p.Lys1693=) c.4890A= (p.Lys1630=) c.4887A= (p.Lys1629=) c.1107A= (p.Lys369=) c.4902A= (p.Lys1634=) c.4884A= (p.Lys1628=) c.1239A= (p.Lys413=) c.4905A= (p.Lys1635=) c.5013A= (p.Lys1671=) n.11371A= n.11362A= | |
10 | g.53806724T>A | CA376516106 | PCDH15 | c.3937A>T c.5078A>T (p.Lys1693Ile) c.4889A>T (p.Lys1630Ile) c.4886A>T (p.Lys1629Ile) c.1106A>T (p.Lys369Ile) c.4901A>T (p.Lys1634Ile) c.4883A>T (p.Lys1628Ile) c.1238A>T (p.Lys413Ile) c.4904A>T (p.Lys1635Ile) c.5012A>T (p.Lys1671Ile) n.11370A>T n.11361A>T | |
10 | g.53806724T>C | CA376516111 | PCDH15 | c.3937A>G c.5078A>G (p.Lys1693Arg) c.4889A>G (p.Lys1630Arg) c.4886A>G (p.Lys1629Arg) c.1106A>G (p.Lys369Arg) c.4901A>G (p.Lys1634Arg) c.4883A>G (p.Lys1628Arg) c.1238A>G (p.Lys413Arg) c.4904A>G (p.Lys1635Arg) c.5012A>G (p.Lys1671Arg) n.11370A>G n.11361A>G | |
10 | g.53806724T>G | CA376516109 | PCDH15 | c.3937A>C c.5078A>C (p.Lys1693Thr) c.4889A>C (p.Lys1630Thr) c.4886A>C (p.Lys1629Thr) c.1106A>C (p.Lys369Thr) c.4901A>C (p.Lys1634Thr) c.4883A>C (p.Lys1628Thr) c.1238A>C (p.Lys413Thr) c.4904A>C (p.Lys1635Thr) c.5012A>C (p.Lys1671Thr) n.11370A>C n.11361A>C | |
10 | g.53806725T>A | CA5504516 | PCDH15 | c.3936A>T c.5077A>T (p.Lys1693Ter) c.4888A>T (p.Lys1630Ter) c.4885A>T (p.Lys1629Ter) c.1105A>T (p.Lys369Ter) c.4900A>T (p.Lys1634Ter) c.4882A>T (p.Lys1628Ter) c.1237A>T (p.Lys413Ter) c.4903A>T (p.Lys1635Ter) c.5011A>T (p.Lys1671Ter) n.11369A>T n.11360A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806725T>C | CA376516113 | PCDH15 | c.3936A>G c.5077A>G (p.Lys1693Glu) c.4888A>G (p.Lys1630Glu) c.4885A>G (p.Lys1629Glu) c.1105A>G (p.Lys369Glu) c.4900A>G (p.Lys1634Glu) c.4882A>G (p.Lys1628Glu) c.1237A>G (p.Lys413Glu) c.4903A>G (p.Lys1635Glu) c.5011A>G (p.Lys1671Glu) n.11369A>G n.11360A>G | |
10 | g.53806725T>G | CA376516117 | PCDH15 | c.3936A>C c.5077A>C (p.Lys1693Gln) c.4888A>C (p.Lys1630Gln) c.4885A>C (p.Lys1629Gln) c.1105A>C (p.Lys369Gln) c.4900A>C (p.Lys1634Gln) c.4882A>C (p.Lys1628Gln) c.1237A>C (p.Lys413Gln) c.4903A>C (p.Lys1635Gln) c.5011A>C (p.Lys1671Gln) n.11369A>C n.11360A>C | |
10 | g.53806725T= | CA1910756106 | PCDH15 | c.3936A= c.5077A= (p.Lys1693=) c.4888A= (p.Lys1630=) c.4885A= (p.Lys1629=) c.1105A= (p.Lys369=) c.4900A= (p.Lys1634=) c.4882A= (p.Lys1628=) c.1237A= (p.Lys413=) c.4903A= (p.Lys1635=) c.5011A= (p.Lys1671=) n.11369A= n.11360A= | |
10 | g.53806726C>A | CA469545867 | PCDH15 | c.3935G>T c.5076G>T (p.Leu1692=) c.4887G>T (p.Leu1629=) c.4884G>T (p.Leu1628=) c.1104G>T (p.Leu368=) c.4899G>T (p.Leu1633=) c.4881G>T (p.Leu1627=) c.1236G>T (p.Leu412=) c.4902G>T (p.Leu1634=) c.5010G>T (p.Leu1670=) n.11368G>T n.11359G>T | |
10 | g.53806726C= | CA1910756110 | PCDH15 | c.3935G= c.5076G= (p.Leu1692=) c.4887G= (p.Leu1629=) c.4884G= (p.Leu1628=) c.1104G= (p.Leu368=) c.4899G= (p.Leu1633=) c.4881G= (p.Leu1627=) c.1236G= (p.Leu412=) c.4902G= (p.Leu1634=) c.5010G= (p.Leu1670=) n.11368G= n.11359G= | |
10 | g.53806726C>G | CA469545868 | PCDH15 | c.3935G>C c.5076G>C (p.Leu1692=) c.4887G>C (p.Leu1629=) c.4884G>C (p.Leu1628=) c.1104G>C (p.Leu368=) c.4899G>C (p.Leu1633=) c.4881G>C (p.Leu1627=) c.1236G>C (p.Leu412=) c.4902G>C (p.Leu1634=) c.5010G>C (p.Leu1670=) n.11368G>C n.11359G>C | |
10 | g.53806726C>T | CA5504518 | PCDH15 | c.3935G>A c.5076G>A (p.Leu1692=) c.4887G>A (p.Leu1629=) c.4884G>A (p.Leu1628=) c.1104G>A (p.Leu368=) c.4899G>A (p.Leu1633=) c.4881G>A (p.Leu1627=) c.1236G>A (p.Leu412=) c.4902G>A (p.Leu1634=) c.5010G>A (p.Leu1670=) n.11368G>A n.11359G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.53806727A= | CA1910756114 | PCDH15 | c.3934T= c.5075T= (p.Leu1692=) c.4886T= (p.Leu1629=) c.4883T= (p.Leu1628=) c.1103T= (p.Leu368=) c.4898T= (p.Leu1633=) c.4880T= (p.Leu1627=) c.1235T= (p.Leu412=) c.4901T= (p.Leu1634=) c.5009T= (p.Leu1670=) n.11367T= n.11358T= | |
10 | g.53806727A>C | CA376516120 | PCDH15 | c.3934T>G c.5075T>G (p.Leu1692Arg) c.4886T>G (p.Leu1629Arg) c.4883T>G (p.Leu1628Arg) c.1103T>G (p.Leu368Arg) c.4898T>G (p.Leu1633Arg) c.4880T>G (p.Leu1627Arg) c.1235T>G (p.Leu412Arg) c.4901T>G (p.Leu1634Arg) c.5009T>G (p.Leu1670Arg) n.11367T>G n.11358T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806727A>G | CA376516121 | PCDH15 | c.3934T>C c.5075T>C (p.Leu1692Pro) c.4886T>C (p.Leu1629Pro) c.4883T>C (p.Leu1628Pro) c.1103T>C (p.Leu368Pro) c.4898T>C (p.Leu1633Pro) c.4880T>C (p.Leu1627Pro) c.1235T>C (p.Leu412Pro) c.4901T>C (p.Leu1634Pro) c.5009T>C (p.Leu1670Pro) n.11367T>C n.11358T>C | |
10 | g.53806727A>T | CA376516122 | PCDH15 | c.3934T>A c.5075T>A (p.Leu1692Gln) c.4886T>A (p.Leu1629Gln) c.4883T>A (p.Leu1628Gln) c.1103T>A (p.Leu368Gln) c.4898T>A (p.Leu1633Gln) c.4880T>A (p.Leu1627Gln) c.1235T>A (p.Leu412Gln) c.4901T>A (p.Leu1634Gln) c.5009T>A (p.Leu1670Gln) n.11367T>A n.11358T>A | |
10 | g.53806727_53806728insACTGTGAA | CA5504517 | PCDH15 | c.3934_3935insTCACAGTT c.5075_5076insTCACAGTT (p.Lys1693HisfsTer3) c.4886_4887insTCACAGTT (p.Lys1630HisfsTer3) c.4883_4884insTCACAGTT (p.Lys1629HisfsTer3) c.1103_1104insTCACAGTT (p.Lys369HisfsTer3) c.4898_4899insTCACAGTT (p.Lys1634HisfsTer3) c.4880_4881insTCACAGTT (p.Lys1628HisfsTer3) c.1235_1236insTCACAGTT (p.Lys413HisfsTer3) c.4901_4902insTCACAGTT (p.Lys1635HisfsTer3) c.5009_5010insTCACAGTT (p.Lys1671HisfsTer3) n.11367_11368insTCACAGTT n.11358_11359insTCACAGTT | dbSNP ExAC gnomAD v4 |
10 | g.53806728G>A | CA469545869 | PCDH15 | c.3933C>T c.5074C>T (p.Leu1692=) c.4885C>T (p.Leu1629=) c.4882C>T (p.Leu1628=) c.1102C>T (p.Leu368=) c.4897C>T (p.Leu1633=) c.4879C>T (p.Leu1627=) c.1234C>T (p.Leu412=) c.4900C>T (p.Leu1634=) c.5008C>T (p.Leu1670=) n.11366C>T n.11357C>T | |
10 | g.53806728G>C | CA376516123 | PCDH15 | c.3933C>G c.5074C>G (p.Leu1692Val) c.4885C>G (p.Leu1629Val) c.4882C>G (p.Leu1628Val) c.1102C>G (p.Leu368Val) c.4897C>G (p.Leu1633Val) c.4879C>G (p.Leu1627Val) c.1234C>G (p.Leu412Val) c.4900C>G (p.Leu1634Val) c.5008C>G (p.Leu1670Val) n.11366C>G n.11357C>G | |
10 | g.53806728G>T | CA376516124 | PCDH15 | c.3933C>A c.5074C>A (p.Leu1692Met) c.4885C>A (p.Leu1629Met) c.4882C>A (p.Leu1628Met) c.1102C>A (p.Leu368Met) c.4897C>A (p.Leu1633Met) c.4879C>A (p.Leu1627Met) c.1234C>A (p.Leu412Met) c.4900C>A (p.Leu1634Met) c.5008C>A (p.Leu1670Met) n.11366C>A n.11357C>A | |
10 | g.53806729C>A | CA376516126 | PCDH15 | c.3932G>T c.5073G>T (p.Arg1691Ser) c.4884G>T (p.Arg1628Ser) c.4881G>T (p.Arg1627Ser) c.1101G>T (p.Arg367Ser) c.4896G>T (p.Arg1632Ser) c.4878G>T (p.Arg1626Ser) c.1233G>T (p.Arg411Ser) c.4899G>T (p.Arg1633Ser) c.5007G>T (p.Arg1669Ser) n.11365G>T n.11356G>T | |
10 | g.53806729C= | CA1910756118 | PCDH15 | c.3932G= c.5073G= (p.Arg1691=) c.4884G= (p.Arg1628=) c.4881G= (p.Arg1627=) c.1101G= (p.Arg367=) c.4896G= (p.Arg1632=) c.4878G= (p.Arg1626=) c.1233G= (p.Arg411=) c.4899G= (p.Arg1633=) c.5007G= (p.Arg1669=) n.11365G= n.11356G= | |
10 | g.53806729C>G | CA376516127 | PCDH15 | c.3932G>C c.5073G>C (p.Arg1691Ser) c.4884G>C (p.Arg1628Ser) c.4881G>C (p.Arg1627Ser) c.1101G>C (p.Arg367Ser) c.4896G>C (p.Arg1632Ser) c.4878G>C (p.Arg1626Ser) c.1233G>C (p.Arg411Ser) c.4899G>C (p.Arg1633Ser) c.5007G>C (p.Arg1669Ser) n.11365G>C n.11356G>C | |
10 | g.53806729C>T | CA5504519 | PCDH15 | c.3932G>A c.5073G>A (p.Arg1691=) c.4884G>A (p.Arg1628=) c.4881G>A (p.Arg1627=) c.1101G>A (p.Arg367=) c.4896G>A (p.Arg1632=) c.4878G>A (p.Arg1626=) c.1233G>A (p.Arg411=) c.4899G>A (p.Arg1633=) c.5007G>A (p.Arg1669=) n.11365G>A n.11356G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806730C>A | CA376516130 | PCDH15 | c.3931G>T c.5072G>T (p.Arg1691Met) c.4883G>T (p.Arg1628Met) c.4880G>T (p.Arg1627Met) c.1100G>T (p.Arg367Met) c.4895G>T (p.Arg1632Met) c.4877G>T (p.Arg1626Met) c.1232G>T (p.Arg411Met) c.4898G>T (p.Arg1633Met) c.5006G>T (p.Arg1669Met) n.11364G>T n.11355G>T | |
10 | g.53806730C= | CA1910756121 | PCDH15 | c.3931G= c.5072G= (p.Arg1691=) c.4883G= (p.Arg1628=) c.4880G= (p.Arg1627=) c.1100G= (p.Arg367=) c.4895G= (p.Arg1632=) c.4877G= (p.Arg1626=) c.1232G= (p.Arg411=) c.4898G= (p.Arg1633=) c.5006G= (p.Arg1669=) n.11364G= n.11355G= | |
10 | g.53806730C>G | CA207195883 | PCDH15 | c.3931G>C c.5072G>C (p.Arg1691Thr) c.4883G>C (p.Arg1628Thr) c.4880G>C (p.Arg1627Thr) c.1100G>C (p.Arg367Thr) c.4895G>C (p.Arg1632Thr) c.4877G>C (p.Arg1626Thr) c.1232G>C (p.Arg411Thr) c.4898G>C (p.Arg1633Thr) c.5006G>C (p.Arg1669Thr) n.11364G>C n.11355G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806730C>T | CA376516132 | PCDH15 | c.3931G>A c.5072G>A (p.Arg1691Lys) c.4883G>A (p.Arg1628Lys) c.4880G>A (p.Arg1627Lys) c.1100G>A (p.Arg367Lys) c.4895G>A (p.Arg1632Lys) c.4877G>A (p.Arg1626Lys) c.1232G>A (p.Arg411Lys) c.4898G>A (p.Arg1633Lys) c.5006G>A (p.Arg1669Lys) n.11364G>A n.11355G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806731T>A | CA376516136 | PCDH15 | c.3930A>T c.5071A>T (p.Arg1691Trp) c.4882A>T (p.Arg1628Trp) c.4879A>T (p.Arg1627Trp) c.1099A>T (p.Arg367Trp) c.4894A>T (p.Arg1632Trp) c.4876A>T (p.Arg1626Trp) c.1231A>T (p.Arg411Trp) c.4897A>T (p.Arg1633Trp) c.5005A>T (p.Arg1669Trp) n.11363A>T n.11354A>T | |
10 | g.53806731T>C | CA376516137 | PCDH15 | c.3930A>G c.5071A>G (p.Arg1691Gly) c.4882A>G (p.Arg1628Gly) c.4879A>G (p.Arg1627Gly) c.1099A>G (p.Arg367Gly) c.4894A>G (p.Arg1632Gly) c.4876A>G (p.Arg1626Gly) c.1231A>G (p.Arg411Gly) c.4897A>G (p.Arg1633Gly) c.5005A>G (p.Arg1669Gly) n.11363A>G n.11354A>G | |
10 | g.53806731T>G | CA469545870 | PCDH15 | c.3930A>C c.5071A>C (p.Arg1691=) c.4882A>C (p.Arg1628=) c.4879A>C (p.Arg1627=) c.1099A>C (p.Arg367=) c.4894A>C (p.Arg1632=) c.4876A>C (p.Arg1626=) c.1231A>C (p.Arg411=) c.4897A>C (p.Arg1633=) c.5005A>C (p.Arg1669=) n.11363A>C n.11354A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806731T= | CA1910756125 | PCDH15 | c.3930A= c.5071A= (p.Arg1691=) c.4882A= (p.Arg1628=) c.4879A= (p.Arg1627=) c.1099A= (p.Arg367=) c.4894A= (p.Arg1632=) c.4876A= (p.Arg1626=) c.1231A= (p.Arg411=) c.4897A= (p.Arg1633=) c.5005A= (p.Arg1669=) n.11363A= n.11354A= | |
10 | g.53806732G>A | CA207195889 | PCDH15 | c.3929C>T c.5070C>T (p.Asn1690=) c.4881C>T (p.Asn1627=) c.4878C>T (p.Asn1626=) c.1098C>T (p.Asn366=) c.4893C>T (p.Asn1631=) c.4875C>T (p.Asn1625=) c.1230C>T (p.Asn410=) c.4896C>T (p.Asn1632=) c.5004C>T (p.Asn1668=) n.11362C>T n.11353C>T | dbSNP |
10 | g.53806732G>C | CA376516139 | PCDH15 | c.3929C>G c.5070C>G (p.Asn1690Lys) c.4881C>G (p.Asn1627Lys) c.4878C>G (p.Asn1626Lys) c.1098C>G (p.Asn366Lys) c.4893C>G (p.Asn1631Lys) c.4875C>G (p.Asn1625Lys) c.1230C>G (p.Asn410Lys) c.4896C>G (p.Asn1632Lys) c.5004C>G (p.Asn1668Lys) n.11362C>G n.11353C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806732G= | CA1910756127 | PCDH15 | c.3929C= c.5070C= (p.Asn1690=) c.4881C= (p.Asn1627=) c.4878C= (p.Asn1626=) c.1098C= (p.Asn366=) c.4893C= (p.Asn1631=) c.4875C= (p.Asn1625=) c.1230C= (p.Asn410=) c.4896C= (p.Asn1632=) c.5004C= (p.Asn1668=) n.11362C= n.11353C= | |
10 | g.53806732G>T | CA376516140 | PCDH15 | c.3929C>A c.5070C>A (p.Asn1690Lys) c.4881C>A (p.Asn1627Lys) c.4878C>A (p.Asn1626Lys) c.1098C>A (p.Asn366Lys) c.4893C>A (p.Asn1631Lys) c.4875C>A (p.Asn1625Lys) c.1230C>A (p.Asn410Lys) c.4896C>A (p.Asn1632Lys) c.5004C>A (p.Asn1668Lys) n.11362C>A n.11353C>A | gnomAD v4 |
10 | g.53806733T>A | CA376516142 | PCDH15 | c.3928A>T c.5069A>T (p.Asn1690Ile) c.4880A>T (p.Asn1627Ile) c.4877A>T (p.Asn1626Ile) c.1097A>T (p.Asn366Ile) c.4892A>T (p.Asn1631Ile) c.4874A>T (p.Asn1625Ile) c.1229A>T (p.Asn410Ile) c.4895A>T (p.Asn1632Ile) c.5003A>T (p.Asn1668Ile) n.11361A>T n.11352A>T | |
10 | g.53806733T>C | CA376516143 | PCDH15 | c.3928A>G c.5069A>G (p.Asn1690Ser) c.4880A>G (p.Asn1627Ser) c.4877A>G (p.Asn1626Ser) c.1097A>G (p.Asn366Ser) c.4892A>G (p.Asn1631Ser) c.4874A>G (p.Asn1625Ser) c.1229A>G (p.Asn410Ser) c.4895A>G (p.Asn1632Ser) c.5003A>G (p.Asn1668Ser) n.11361A>G n.11352A>G | gnomAD v4 |
10 | g.53806733T>G | CA376516144 | PCDH15 | c.3928A>C c.5069A>C (p.Asn1690Thr) c.4880A>C (p.Asn1627Thr) c.4877A>C (p.Asn1626Thr) c.1097A>C (p.Asn366Thr) c.4892A>C (p.Asn1631Thr) c.4874A>C (p.Asn1625Thr) c.1229A>C (p.Asn410Thr) c.4895A>C (p.Asn1632Thr) c.5003A>C (p.Asn1668Thr) n.11361A>C n.11352A>C | |
10 | g.53806734T>A | CA5504520 | PCDH15 | c.3927A>T c.5068A>T (p.Asn1690Tyr) c.4879A>T (p.Asn1627Tyr) c.4876A>T (p.Asn1626Tyr) c.1096A>T (p.Asn366Tyr) c.4891A>T (p.Asn1631Tyr) c.4873A>T (p.Asn1625Tyr) c.1228A>T (p.Asn410Tyr) c.4894A>T (p.Asn1632Tyr) c.5002A>T (p.Asn1668Tyr) n.11360A>T n.11351A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806734T>C | CA376516146 | PCDH15 | c.3927A>G c.5068A>G (p.Asn1690Asp) c.4879A>G (p.Asn1627Asp) c.4876A>G (p.Asn1626Asp) c.1096A>G (p.Asn366Asp) c.4891A>G (p.Asn1631Asp) c.4873A>G (p.Asn1625Asp) c.1228A>G (p.Asn410Asp) c.4894A>G (p.Asn1632Asp) c.5002A>G (p.Asn1668Asp) n.11360A>G n.11351A>G | |
10 | g.53806734T>G | CA376516148 | PCDH15 | c.3927A>C c.5068A>C (p.Asn1690His) c.4879A>C (p.Asn1627His) c.4876A>C (p.Asn1626His) c.1096A>C (p.Asn366His) c.4891A>C (p.Asn1631His) c.4873A>C (p.Asn1625His) c.1228A>C (p.Asn410His) c.4894A>C (p.Asn1632His) c.5002A>C (p.Asn1668His) n.11360A>C n.11351A>C | |
10 | g.53806734T= | CA1910756131 | PCDH15 | c.3927A= c.5068A= (p.Asn1690=) c.4879A= (p.Asn1627=) c.4876A= (p.Asn1626=) c.1096A= (p.Asn366=) c.4891A= (p.Asn1631=) c.4873A= (p.Asn1625=) c.1228A= (p.Asn410=) c.4894A= (p.Asn1632=) c.5002A= (p.Asn1668=) n.11360A= n.11351A= | |
10 | g.53806735C>A | CA376516151 | PCDH15 | c.3926G>T c.5067G>T (p.Arg1689Ser) c.4878G>T (p.Arg1626Ser) c.4875G>T (p.Arg1625Ser) c.1095G>T (p.Arg365Ser) c.4890G>T (p.Arg1630Ser) c.4872G>T (p.Arg1624Ser) c.1227G>T (p.Arg409Ser) c.4893G>T (p.Arg1631Ser) c.5001G>T (p.Arg1667Ser) n.11359G>T n.11350G>T | |
10 | g.53806735C= | CA1910756136 | PCDH15 | c.3926G= c.5067G= (p.Arg1689=) c.4878G= (p.Arg1626=) c.4875G= (p.Arg1625=) c.1095G= (p.Arg365=) c.4890G= (p.Arg1630=) c.4872G= (p.Arg1624=) c.1227G= (p.Arg409=) c.4893G= (p.Arg1631=) c.5001G= (p.Arg1667=) n.11359G= n.11350G= | |
10 | g.53806735C>G | CA376516150 | PCDH15 | c.3926G>C c.5067G>C (p.Arg1689Ser) c.4878G>C (p.Arg1626Ser) c.4875G>C (p.Arg1625Ser) c.1095G>C (p.Arg365Ser) c.4890G>C (p.Arg1630Ser) c.4872G>C (p.Arg1624Ser) c.1227G>C (p.Arg409Ser) c.4893G>C (p.Arg1631Ser) c.5001G>C (p.Arg1667Ser) n.11359G>C n.11350G>C | |
10 | g.53806735C>T | CA5504521 | PCDH15 | c.3926G>A c.5067G>A (p.Arg1689=) c.4878G>A (p.Arg1626=) c.4875G>A (p.Arg1625=) c.1095G>A (p.Arg365=) c.4890G>A (p.Arg1630=) c.4872G>A (p.Arg1624=) c.1227G>A (p.Arg409=) c.4893G>A (p.Arg1631=) c.5001G>A (p.Arg1667=) n.11359G>A n.11350G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806735_53806736insAA | CA5504522 | PCDH15 | c.3925_3926insTT c.5066_5067insTT (p.Arg1689SerfsTer2) c.4877_4878insTT (p.Arg1626SerfsTer2) c.4874_4875insTT (p.Arg1625SerfsTer2) c.1094_1095insTT (p.Arg365SerfsTer2) c.4889_4890insTT (p.Arg1630SerfsTer2) c.4871_4872insTT (p.Arg1624SerfsTer2) c.1226_1227insTT (p.Arg409SerfsTer2) c.4892_4893insTT (p.Arg1631SerfsTer2) c.5000_5001insTT (p.Arg1667SerfsTer2) n.11358_11359insTT n.11349_11350insTT | dbSNP ExAC gnomAD v4 |
10 | g.53806736C>A | CA207195904 | PCDH15 | c.3925G>T c.5066G>T (p.Arg1689Met) c.4877G>T (p.Arg1626Met) c.4874G>T (p.Arg1625Met) c.1094G>T (p.Arg365Met) c.4889G>T (p.Arg1630Met) c.4871G>T (p.Arg1624Met) c.1226G>T (p.Arg409Met) c.4892G>T (p.Arg1631Met) c.5000G>T (p.Arg1667Met) n.11358G>T n.11349G>T | dbSNP |
10 | g.53806736C= | CA1910756148 | PCDH15 | c.3925G= c.5066G= (p.Arg1689=) c.4877G= (p.Arg1626=) c.4874G= (p.Arg1625=) c.1094G= (p.Arg365=) c.4889G= (p.Arg1630=) c.4871G= (p.Arg1624=) c.1226G= (p.Arg409=) c.4892G= (p.Arg1631=) c.5000G= (p.Arg1667=) n.11358G= n.11349G= | |
10 | g.53806736C>G | CA376516154 | PCDH15 | c.3925G>C c.5066G>C (p.Arg1689Thr) c.4877G>C (p.Arg1626Thr) c.4874G>C (p.Arg1625Thr) c.1094G>C (p.Arg365Thr) c.4889G>C (p.Arg1630Thr) c.4871G>C (p.Arg1624Thr) c.1226G>C (p.Arg409Thr) c.4892G>C (p.Arg1631Thr) c.5000G>C (p.Arg1667Thr) n.11358G>C n.11349G>C | gnomAD v4 |
10 | g.53806736C>T | CA5504524 | PCDH15 | c.3925G>A c.5066G>A (p.Arg1689Lys) c.4877G>A (p.Arg1626Lys) c.4874G>A (p.Arg1625Lys) c.1094G>A (p.Arg365Lys) c.4889G>A (p.Arg1630Lys) c.4871G>A (p.Arg1624Lys) c.1226G>A (p.Arg409Lys) c.4892G>A (p.Arg1631Lys) c.5000G>A (p.Arg1667Lys) n.11358G>A n.11349G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806736_53806738delinsCTT | CA1910756145 | PCDH15 | c.3923_3925delinsAAG c.5064_5066delinsAAG (p.Leu1688=) c.4875_4877delinsAAG (p.Leu1625=) c.4872_4874delinsAAG (p.Leu1624=) c.1092_1094delinsAAG (p.Leu364=) c.4887_4889delinsAAG (p.Leu1629=) c.4869_4871delinsAAG (p.Leu1623=) c.1224_1226delinsAAG (p.Leu408=) c.4890_4892delinsAAG (p.Leu1630=) c.4998_5000delinsAAG (p.Leu1666=) n.11356_11358delinsAAG n.11347_11349delinsAAG | |
10 | g.53806737T>A | CA207195920 | PCDH15 | c.3924A>T c.5065A>T (p.Arg1689Trp) c.4876A>T (p.Arg1626Trp) c.4873A>T (p.Arg1625Trp) c.1093A>T (p.Arg365Trp) c.4888A>T (p.Arg1630Trp) c.4870A>T (p.Arg1624Trp) c.1225A>T (p.Arg409Trp) c.4891A>T (p.Arg1631Trp) c.4999A>T (p.Arg1667Trp) n.11357A>T n.11348A>T | dbSNP |
10 | g.53806737T>C | CA376516156 | PCDH15 | c.3924A>G c.5065A>G (p.Arg1689Gly) c.4876A>G (p.Arg1626Gly) c.4873A>G (p.Arg1625Gly) c.1093A>G (p.Arg365Gly) c.4888A>G (p.Arg1630Gly) c.4870A>G (p.Arg1624Gly) c.1225A>G (p.Arg409Gly) c.4891A>G (p.Arg1631Gly) c.4999A>G (p.Arg1667Gly) n.11357A>G n.11348A>G | dbSNP |
10 | g.53806737T>G | CA469545871 | PCDH15 | c.3924A>C c.5065A>C (p.Arg1689=) c.4876A>C (p.Arg1626=) c.4873A>C (p.Arg1625=) c.1093A>C (p.Arg365=) c.4888A>C (p.Arg1630=) c.4870A>C (p.Arg1624=) c.1225A>C (p.Arg409=) c.4891A>C (p.Arg1631=) c.4999A>C (p.Arg1667=) n.11357A>C n.11348A>C | |
10 | g.53806737T= | CA1910756155 | PCDH15 | c.3924A= c.5065A= (p.Arg1689=) c.4876A= (p.Arg1626=) c.4873A= (p.Arg1625=) c.1093A= (p.Arg365=) c.4888A= (p.Arg1630=) c.4870A= (p.Arg1624=) c.1225A= (p.Arg409=) c.4891A= (p.Arg1631=) c.4999A= (p.Arg1667=) n.11357A= n.11348A= | |
10 | g.53806737_53806738del | CA5504523 | PCDH15 | c.3923_3924del c.5064_5065del (p.Arg1689GlufsTer8) c.4875_4876del (p.Arg1626GlufsTer8) c.4872_4873del (p.Arg1625GlufsTer8) c.1092_1093del (p.Arg365GlufsTer8) c.4887_4888del (p.Arg1630GlufsTer8) c.4869_4870del (p.Arg1624GlufsTer8) c.1224_1225del (p.Arg409GlufsTer8) c.4890_4891del (p.Arg1631GlufsTer8) c.4998_4999del (p.Arg1667GlufsTer8) n.11356_11357del n.11347_11348del | dbSNP ExAC gnomAD v4 |
10 | g.53806738T>A | CA469545872 | PCDH15 | c.3923A>T c.5064A>T (p.Leu1688=) c.4875A>T (p.Leu1625=) c.4872A>T (p.Leu1624=) c.1092A>T (p.Leu364=) c.4887A>T (p.Leu1629=) c.4869A>T (p.Leu1623=) c.1224A>T (p.Leu408=) c.4890A>T (p.Leu1630=) c.4998A>T (p.Leu1666=) n.11356A>T n.11347A>T | |
10 | g.53806738T>C | CA207195928 | PCDH15 | c.3923A>G c.5064A>G (p.Leu1688=) c.4875A>G (p.Leu1625=) c.4872A>G (p.Leu1624=) c.1092A>G (p.Leu364=) c.4887A>G (p.Leu1629=) c.4869A>G (p.Leu1623=) c.1224A>G (p.Leu408=) c.4890A>G (p.Leu1630=) c.4998A>G (p.Leu1666=) n.11356A>G n.11347A>G | dbSNP |
10 | g.53806738T>G | CA469545873 | PCDH15 | c.3923A>C c.5064A>C (p.Leu1688=) c.4875A>C (p.Leu1625=) c.4872A>C (p.Leu1624=) c.1092A>C (p.Leu364=) c.4887A>C (p.Leu1629=) c.4869A>C (p.Leu1623=) c.1224A>C (p.Leu408=) c.4890A>C (p.Leu1630=) c.4998A>C (p.Leu1666=) n.11356A>C n.11347A>C | |
10 | g.53806738T= | CA1910756162 | PCDH15 | c.3923A= c.5064A= (p.Leu1688=) c.4875A= (p.Leu1625=) c.4872A= (p.Leu1624=) c.1092A= (p.Leu364=) c.4887A= (p.Leu1629=) c.4869A= (p.Leu1623=) c.1224A= (p.Leu408=) c.4890A= (p.Leu1630=) c.4998A= (p.Leu1666=) n.11356A= n.11347A= | |
10 | g.53806739A>C | CA376516159 | PCDH15 | c.3922T>G c.5063T>G (p.Leu1688Arg) c.4874T>G (p.Leu1625Arg) c.4871T>G (p.Leu1624Arg) c.1091T>G (p.Leu364Arg) c.4886T>G (p.Leu1629Arg) c.4868T>G (p.Leu1623Arg) c.1223T>G (p.Leu408Arg) c.4889T>G (p.Leu1630Arg) c.4997T>G (p.Leu1666Arg) n.11355T>G n.11346T>G | |
10 | g.53806739A>G | CA376516161 | PCDH15 | c.3922T>C c.5063T>C (p.Leu1688Pro) c.4874T>C (p.Leu1625Pro) c.4871T>C (p.Leu1624Pro) c.1091T>C (p.Leu364Pro) c.4886T>C (p.Leu1629Pro) c.4868T>C (p.Leu1623Pro) c.1223T>C (p.Leu408Pro) c.4889T>C (p.Leu1630Pro) c.4997T>C (p.Leu1666Pro) n.11355T>C n.11346T>C | |
10 | g.53806739A>T | CA376516160 | PCDH15 | c.3922T>A c.5063T>A (p.Leu1688Gln) c.4874T>A (p.Leu1625Gln) c.4871T>A (p.Leu1624Gln) c.1091T>A (p.Leu364Gln) c.4886T>A (p.Leu1629Gln) c.4868T>A (p.Leu1623Gln) c.1223T>A (p.Leu408Gln) c.4889T>A (p.Leu1630Gln) c.4997T>A (p.Leu1666Gln) n.11355T>A n.11346T>A | |
10 | g.53806740G>A | CA469545874 | PCDH15 | c.3921C>T c.5062C>T (p.Leu1688=) c.4873C>T (p.Leu1625=) c.4870C>T (p.Leu1624=) c.1090C>T (p.Leu364=) c.4885C>T (p.Leu1629=) c.4867C>T (p.Leu1623=) c.1222C>T (p.Leu408=) c.4888C>T (p.Leu1630=) c.4996C>T (p.Leu1666=) n.11354C>T n.11345C>T | |
10 | g.53806740G>C | CA376516162 | PCDH15 | c.3921C>G c.5062C>G (p.Leu1688Val) c.4873C>G (p.Leu1625Val) c.4870C>G (p.Leu1624Val) c.1090C>G (p.Leu364Val) c.4885C>G (p.Leu1629Val) c.4867C>G (p.Leu1623Val) c.1222C>G (p.Leu408Val) c.4888C>G (p.Leu1630Val) c.4996C>G (p.Leu1666Val) n.11354C>G n.11345C>G | |
10 | g.53806740G>T | CA376516163 | PCDH15 | c.3921C>A c.5062C>A (p.Leu1688Ile) c.4873C>A (p.Leu1625Ile) c.4870C>A (p.Leu1624Ile) c.1090C>A (p.Leu364Ile) c.4885C>A (p.Leu1629Ile) c.4867C>A (p.Leu1623Ile) c.1222C>A (p.Leu408Ile) c.4888C>A (p.Leu1630Ile) c.4996C>A (p.Leu1666Ile) n.11354C>A n.11345C>A | |
10 | g.53806741T>A | CA469545875 | PCDH15 | c.3920A>T c.5061A>T (p.Pro1687=) c.4872A>T (p.Pro1624=) c.4869A>T (p.Pro1623=) c.1089A>T (p.Pro363=) c.4884A>T (p.Pro1628=) c.4866A>T (p.Pro1622=) c.1221A>T (p.Pro407=) c.4887A>T (p.Pro1629=) c.4995A>T (p.Pro1665=) n.11353A>T n.11344A>T | dbSNP gnomAD v4 |
10 | g.53806741T>C | CA5504525 | PCDH15 | c.3920A>G c.5061A>G (p.Pro1687=) c.4872A>G (p.Pro1624=) c.4869A>G (p.Pro1623=) c.1089A>G (p.Pro363=) c.4884A>G (p.Pro1628=) c.4866A>G (p.Pro1622=) c.1221A>G (p.Pro407=) c.4887A>G (p.Pro1629=) c.4995A>G (p.Pro1665=) n.11353A>G n.11344A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806741T>G | CA469545876 | PCDH15 | c.3920A>C c.5061A>C (p.Pro1687=) c.4872A>C (p.Pro1624=) c.4869A>C (p.Pro1623=) c.1089A>C (p.Pro363=) c.4884A>C (p.Pro1628=) c.4866A>C (p.Pro1622=) c.1221A>C (p.Pro407=) c.4887A>C (p.Pro1629=) c.4995A>C (p.Pro1665=) n.11353A>C n.11344A>C | |
10 | g.53806741T= | CA1910756164 | PCDH15 | c.3920A= c.5061A= (p.Pro1687=) c.4872A= (p.Pro1624=) c.4869A= (p.Pro1623=) c.1089A= (p.Pro363=) c.4884A= (p.Pro1628=) c.4866A= (p.Pro1622=) c.1221A= (p.Pro407=) c.4887A= (p.Pro1629=) c.4995A= (p.Pro1665=) n.11353A= n.11344A= | |
10 | g.53806742G>A | CA376516170 | PCDH15 | c.3919C>T c.5060C>T (p.Pro1687Leu) c.4871C>T (p.Pro1624Leu) c.4868C>T (p.Pro1623Leu) c.1088C>T (p.Pro363Leu) c.4883C>T (p.Pro1628Leu) c.4865C>T (p.Pro1622Leu) c.1220C>T (p.Pro407Leu) c.4886C>T (p.Pro1629Leu) c.4994C>T (p.Pro1665Leu) n.11352C>T n.11343C>T | COSMIC |
10 | g.53806742G>C | CA376516166 | PCDH15 | c.3919C>G c.5060C>G (p.Pro1687Arg) c.4871C>G (p.Pro1624Arg) c.4868C>G (p.Pro1623Arg) c.1088C>G (p.Pro363Arg) c.4883C>G (p.Pro1628Arg) c.4865C>G (p.Pro1622Arg) c.1220C>G (p.Pro407Arg) c.4886C>G (p.Pro1629Arg) c.4994C>G (p.Pro1665Arg) n.11352C>G n.11343C>G | |
10 | g.53806742G>T | CA376516168 | PCDH15 | c.3919C>A c.5060C>A (p.Pro1687Gln) c.4871C>A (p.Pro1624Gln) c.4868C>A (p.Pro1623Gln) c.1088C>A (p.Pro363Gln) c.4883C>A (p.Pro1628Gln) c.4865C>A (p.Pro1622Gln) c.1220C>A (p.Pro407Gln) c.4886C>A (p.Pro1629Gln) c.4994C>A (p.Pro1665Gln) n.11352C>A n.11343C>A | |
10 | g.53806743G>A | CA376516172 | PCDH15 | c.3918C>T c.5059C>T (p.Pro1687Ser) c.4870C>T (p.Pro1624Ser) c.4867C>T (p.Pro1623Ser) c.1087C>T (p.Pro363Ser) c.4882C>T (p.Pro1628Ser) c.4864C>T (p.Pro1622Ser) c.1219C>T (p.Pro407Ser) c.4885C>T (p.Pro1629Ser) c.4993C>T (p.Pro1665Ser) n.11351C>T n.11342C>T | |
10 | g.53806743G>C | CA376516174 | PCDH15 | c.3918C>G c.5059C>G (p.Pro1687Ala) c.4870C>G (p.Pro1624Ala) c.4867C>G (p.Pro1623Ala) c.1087C>G (p.Pro363Ala) c.4882C>G (p.Pro1628Ala) c.4864C>G (p.Pro1622Ala) c.1219C>G (p.Pro407Ala) c.4885C>G (p.Pro1629Ala) c.4993C>G (p.Pro1665Ala) n.11351C>G n.11342C>G | |
10 | g.53806743G= | CA1910756169 | PCDH15 | c.3918C= c.5059C= (p.Pro1687=) c.4870C= (p.Pro1624=) c.4867C= (p.Pro1623=) c.1087C= (p.Pro363=) c.4882C= (p.Pro1628=) c.4864C= (p.Pro1622=) c.1219C= (p.Pro407=) c.4885C= (p.Pro1629=) c.4993C= (p.Pro1665=) n.11351C= n.11342C= | |
10 | g.53806743G>T | CA5504526 | PCDH15 | c.3918C>A c.5059C>A (p.Pro1687Thr) c.4870C>A (p.Pro1624Thr) c.4867C>A (p.Pro1623Thr) c.1087C>A (p.Pro363Thr) c.4882C>A (p.Pro1628Thr) c.4864C>A (p.Pro1622Thr) c.1219C>A (p.Pro407Thr) c.4885C>A (p.Pro1629Thr) c.4993C>A (p.Pro1665Thr) n.11351C>A n.11342C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.53806744C>A | CA376516176 | PCDH15 | c.3917G>T c.5058G>T (p.Lys1686Asn) c.4869G>T (p.Lys1623Asn) c.4866G>T (p.Lys1622Asn) c.1086G>T (p.Lys362Asn) c.4881G>T (p.Lys1627Asn) c.4863G>T (p.Lys1621Asn) c.1218G>T (p.Lys406Asn) c.4884G>T (p.Lys1628Asn) c.4992G>T (p.Lys1664Asn) n.11350G>T n.11341G>T | |
10 | g.53806744C= | CA1910756170 | PCDH15 | c.3917G= c.5058G= (p.Lys1686=) c.4869G= (p.Lys1623=) c.4866G= (p.Lys1622=) c.1086G= (p.Lys362=) c.4881G= (p.Lys1627=) c.4863G= (p.Lys1621=) c.1218G= (p.Lys406=) c.4884G= (p.Lys1628=) c.4992G= (p.Lys1664=) n.11350G= n.11341G= | |
10 | g.53806744C>G | CA376516177 | PCDH15 | c.3917G>C c.5058G>C (p.Lys1686Asn) c.4869G>C (p.Lys1623Asn) c.4866G>C (p.Lys1622Asn) c.1086G>C (p.Lys362Asn) c.4881G>C (p.Lys1627Asn) c.4863G>C (p.Lys1621Asn) c.1218G>C (p.Lys406Asn) c.4884G>C (p.Lys1628Asn) c.4992G>C (p.Lys1664Asn) n.11350G>C n.11341G>C | |
10 | g.53806744C>T | CA5504527 | PCDH15 | c.3917G>A c.5058G>A (p.Lys1686=) c.4869G>A (p.Lys1623=) c.4866G>A (p.Lys1622=) c.1086G>A (p.Lys362=) c.4881G>A (p.Lys1627=) c.4863G>A (p.Lys1621=) c.1218G>A (p.Lys406=) c.4884G>A (p.Lys1628=) c.4992G>A (p.Lys1664=) n.11350G>A n.11341G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806745T>A | CA376516183 | PCDH15 | c.3916A>T c.5057A>T (p.Lys1686Met) c.4868A>T (p.Lys1623Met) c.4865A>T (p.Lys1622Met) c.1085A>T (p.Lys362Met) c.4880A>T (p.Lys1627Met) c.4862A>T (p.Lys1621Met) c.1217A>T (p.Lys406Met) c.4883A>T (p.Lys1628Met) c.4991A>T (p.Lys1664Met) n.11349A>T n.11340A>T | |
10 | g.53806745T>C | CA376516185 | PCDH15 | c.3916A>G c.5057A>G (p.Lys1686Arg) c.4868A>G (p.Lys1623Arg) c.4865A>G (p.Lys1622Arg) c.1085A>G (p.Lys362Arg) c.4880A>G (p.Lys1627Arg) c.4862A>G (p.Lys1621Arg) c.1217A>G (p.Lys406Arg) c.4883A>G (p.Lys1628Arg) c.4991A>G (p.Lys1664Arg) n.11349A>G n.11340A>G | COSMIC |
10 | g.53806745T>G | CA376516187 | PCDH15 | c.3916A>C c.5057A>C (p.Lys1686Thr) c.4868A>C (p.Lys1623Thr) c.4865A>C (p.Lys1622Thr) c.1085A>C (p.Lys362Thr) c.4880A>C (p.Lys1627Thr) c.4862A>C (p.Lys1621Thr) c.1217A>C (p.Lys406Thr) c.4883A>C (p.Lys1628Thr) c.4991A>C (p.Lys1664Thr) n.11349A>C n.11340A>C | |
10 | g.53806746T>A | CA376516189 | PCDH15 | c.3915A>T c.5056A>T (p.Lys1686Ter) c.4867A>T (p.Lys1623Ter) c.4864A>T (p.Lys1622Ter) c.1084A>T (p.Lys362Ter) c.4879A>T (p.Lys1627Ter) c.4861A>T (p.Lys1621Ter) c.1216A>T (p.Lys406Ter) c.4882A>T (p.Lys1628Ter) c.4990A>T (p.Lys1664Ter) n.11348A>T n.11339A>T | |
10 | g.53806746T>C | CA376516191 | PCDH15 | c.3915A>G c.5056A>G (p.Lys1686Glu) c.4867A>G (p.Lys1623Glu) c.4864A>G (p.Lys1622Glu) c.1084A>G (p.Lys362Glu) c.4879A>G (p.Lys1627Glu) c.4861A>G (p.Lys1621Glu) c.1216A>G (p.Lys406Glu) c.4882A>G (p.Lys1628Glu) c.4990A>G (p.Lys1664Glu) n.11348A>G n.11339A>G | |
10 | g.53806746T>G | CA376516193 | PCDH15 | c.3915A>C c.5056A>C (p.Lys1686Gln) c.4867A>C (p.Lys1623Gln) c.4864A>C (p.Lys1622Gln) c.1084A>C (p.Lys362Gln) c.4879A>C (p.Lys1627Gln) c.4861A>C (p.Lys1621Gln) c.1216A>C (p.Lys406Gln) c.4882A>C (p.Lys1628Gln) c.4990A>C (p.Lys1664Gln) n.11348A>C n.11339A>C | |
10 | g.53806747C>A | CA469545879 | PCDH15 | c.3914G>T c.5055G>T (p.Val1685=) c.4866G>T (p.Val1622=) c.4863G>T (p.Val1621=) c.1083G>T (p.Val361=) c.4878G>T (p.Val1626=) c.4860G>T (p.Val1620=) c.1215G>T (p.Val405=) c.4881G>T (p.Val1627=) c.4989G>T (p.Val1663=) n.11347G>T n.11338G>T | |
10 | g.53806747C= | CA1910756172 | PCDH15 | c.3914G= c.5055G= (p.Val1685=) c.4866G= (p.Val1622=) c.4863G= (p.Val1621=) c.1083G= (p.Val361=) c.4878G= (p.Val1626=) c.4860G= (p.Val1620=) c.1215G= (p.Val405=) c.4881G= (p.Val1627=) c.4989G= (p.Val1663=) n.11347G= n.11338G= | |
10 | g.53806747C>G | CA469545880 | PCDH15 | c.3914G>C c.5055G>C (p.Val1685=) c.4866G>C (p.Val1622=) c.4863G>C (p.Val1621=) c.1083G>C (p.Val361=) c.4878G>C (p.Val1626=) c.4860G>C (p.Val1620=) c.1215G>C (p.Val405=) c.4881G>C (p.Val1627=) c.4989G>C (p.Val1663=) n.11347G>C n.11338G>C | |
10 | g.53806747C>T | CA5504528 | PCDH15 | c.3914G>A c.5055G>A (p.Val1685=) c.4866G>A (p.Val1622=) c.4863G>A (p.Val1621=) c.1083G>A (p.Val361=) c.4878G>A (p.Val1626=) c.4860G>A (p.Val1620=) c.1215G>A (p.Val405=) c.4881G>A (p.Val1627=) c.4989G>A (p.Val1663=) n.11347G>A n.11338G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806748A= | CA1910756176 | PCDH15 | c.3913T= c.5054T= (p.Val1685=) c.4865T= (p.Val1622=) c.4862T= (p.Val1621=) c.1082T= (p.Val361=) c.4877T= (p.Val1626=) c.4859T= (p.Val1620=) c.1214T= (p.Val405=) c.4880T= (p.Val1627=) c.4988T= (p.Val1663=) n.11346T= n.11337T= | |
10 | g.53806748A>C | CA376516194 | PCDH15 | c.3913T>G c.5054T>G (p.Val1685Gly) c.4865T>G (p.Val1622Gly) c.4862T>G (p.Val1621Gly) c.1082T>G (p.Val361Gly) c.4877T>G (p.Val1626Gly) c.4859T>G (p.Val1620Gly) c.1214T>G (p.Val405Gly) c.4880T>G (p.Val1627Gly) c.4988T>G (p.Val1663Gly) n.11346T>G n.11337T>G | |
10 | g.53806748A>G | CA5504529 | PCDH15 | c.3913T>C c.5054T>C (p.Val1685Ala) c.4865T>C (p.Val1622Ala) c.4862T>C (p.Val1621Ala) c.1082T>C (p.Val361Ala) c.4877T>C (p.Val1626Ala) c.4859T>C (p.Val1620Ala) c.1214T>C (p.Val405Ala) c.4880T>C (p.Val1627Ala) c.4988T>C (p.Val1663Ala) n.11346T>C n.11337T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806748A>T | CA376516195 | PCDH15 | c.3913T>A c.5054T>A (p.Val1685Glu) c.4865T>A (p.Val1622Glu) c.4862T>A (p.Val1621Glu) c.1082T>A (p.Val361Glu) c.4877T>A (p.Val1626Glu) c.4859T>A (p.Val1620Glu) c.1214T>A (p.Val405Glu) c.4880T>A (p.Val1627Glu) c.4988T>A (p.Val1663Glu) n.11346T>A n.11337T>A | |
10 | g.53806749C>A | CA376516197 | PCDH15 | c.3912G>T c.5053G>T (p.Val1685Leu) c.4864G>T (p.Val1622Leu) c.4861G>T (p.Val1621Leu) c.1081G>T (p.Val361Leu) c.4876G>T (p.Val1626Leu) c.4858G>T (p.Val1620Leu) c.1213G>T (p.Val405Leu) c.4879G>T (p.Val1627Leu) c.4987G>T (p.Val1663Leu) n.11345G>T n.11336G>T | |
10 | g.53806749C>G | CA376516198 | PCDH15 | c.3912G>C c.5053G>C (p.Val1685Leu) c.4864G>C (p.Val1622Leu) c.4861G>C (p.Val1621Leu) c.1081G>C (p.Val361Leu) c.4876G>C (p.Val1626Leu) c.4858G>C (p.Val1620Leu) c.1213G>C (p.Val405Leu) c.4879G>C (p.Val1627Leu) c.4987G>C (p.Val1663Leu) n.11345G>C n.11336G>C | gnomAD v4 COSMIC |
10 | g.53806749C>T | CA376516199 | PCDH15 | c.3912G>A c.5053G>A (p.Val1685Met) c.4864G>A (p.Val1622Met) c.4861G>A (p.Val1621Met) c.1081G>A (p.Val361Met) c.4876G>A (p.Val1626Met) c.4858G>A (p.Val1620Met) c.1213G>A (p.Val405Met) c.4879G>A (p.Val1627Met) c.4987G>A (p.Val1663Met) n.11345G>A n.11336G>A | gnomAD v4 |
10 | g.53806750C>A | CA469545881 | PCDH15 | c.3911G>T c.5052G>T (p.Ala1684=) c.4863G>T (p.Ala1621=) c.4860G>T (p.Ala1620=) c.1080G>T (p.Ala360=) c.4875G>T (p.Ala1625=) c.4857G>T (p.Ala1619=) c.1212G>T (p.Ala404=) c.4878G>T (p.Ala1626=) c.4986G>T (p.Ala1662=) n.11344G>T n.11335G>T | |
10 | g.53806750C= | CA1910756181 | PCDH15 | c.3911G= c.5052G= (p.Ala1684=) c.4863G= (p.Ala1621=) c.4860G= (p.Ala1620=) c.1080G= (p.Ala360=) c.4875G= (p.Ala1625=) c.4857G= (p.Ala1619=) c.1212G= (p.Ala404=) c.4878G= (p.Ala1626=) c.4986G= (p.Ala1662=) n.11344G= n.11335G= | |
10 | g.53806750C>G | CA469545882 | PCDH15 | c.3911G>C c.5052G>C (p.Ala1684=) c.4863G>C (p.Ala1621=) c.4860G>C (p.Ala1620=) c.1080G>C (p.Ala360=) c.4875G>C (p.Ala1625=) c.4857G>C (p.Ala1619=) c.1212G>C (p.Ala404=) c.4878G>C (p.Ala1626=) c.4986G>C (p.Ala1662=) n.11344G>C n.11335G>C | |
10 | g.53806750C>T | CA5504530 | PCDH15 | c.3911G>A c.5052G>A (p.Ala1684=) c.4863G>A (p.Ala1621=) c.4860G>A (p.Ala1620=) c.1080G>A (p.Ala360=) c.4875G>A (p.Ala1625=) c.4857G>A (p.Ala1619=) c.1212G>A (p.Ala404=) c.4878G>A (p.Ala1626=) c.4986G>A (p.Ala1662=) n.11344G>A n.11335G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.53806751G>A | CA5504531 | PCDH15 | c.3910C>T c.5051C>T (p.Ala1684Val) c.4862C>T (p.Ala1621Val) c.4859C>T (p.Ala1620Val) c.1079C>T (p.Ala360Val) c.4874C>T (p.Ala1625Val) c.4856C>T (p.Ala1619Val) c.1211C>T (p.Ala404Val) c.4877C>T (p.Ala1626Val) c.4985C>T (p.Ala1662Val) n.11343C>T n.11334C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806751G>C | CA376516208 | PCDH15 | c.3910C>G c.5051C>G (p.Ala1684Gly) c.4862C>G (p.Ala1621Gly) c.4859C>G (p.Ala1620Gly) c.1079C>G (p.Ala360Gly) c.4874C>G (p.Ala1625Gly) c.4856C>G (p.Ala1619Gly) c.1211C>G (p.Ala404Gly) c.4877C>G (p.Ala1626Gly) c.4985C>G (p.Ala1662Gly) n.11343C>G n.11334C>G | |
10 | g.53806751G= | CA1910756185 | PCDH15 | c.3910C= c.5051C= (p.Ala1684=) c.4862C= (p.Ala1621=) c.4859C= (p.Ala1620=) c.1079C= (p.Ala360=) c.4874C= (p.Ala1625=) c.4856C= (p.Ala1619=) c.1211C= (p.Ala404=) c.4877C= (p.Ala1626=) c.4985C= (p.Ala1662=) n.11343C= n.11334C= | |
10 | g.53806751G>T | CA376516209 | PCDH15 | c.3910C>A c.5051C>A (p.Ala1684Glu) c.4862C>A (p.Ala1621Glu) c.4859C>A (p.Ala1620Glu) c.1079C>A (p.Ala360Glu) c.4874C>A (p.Ala1625Glu) c.4856C>A (p.Ala1619Glu) c.1211C>A (p.Ala404Glu) c.4877C>A (p.Ala1626Glu) c.4985C>A (p.Ala1662Glu) n.11343C>A n.11334C>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806752C>A | CA376516210 | PCDH15 | c.3909G>T c.5050G>T (p.Ala1684Ser) c.4861G>T (p.Ala1621Ser) c.4858G>T (p.Ala1620Ser) c.1078G>T (p.Ala360Ser) c.4873G>T (p.Ala1625Ser) c.4855G>T (p.Ala1619Ser) c.1210G>T (p.Ala404Ser) c.4876G>T (p.Ala1626Ser) c.4984G>T (p.Ala1662Ser) n.11342G>T n.11333G>T | |
10 | g.53806752C>G | CA376516212 | PCDH15 | c.3909G>C c.5050G>C (p.Ala1684Pro) c.4861G>C (p.Ala1621Pro) c.4858G>C (p.Ala1620Pro) c.1078G>C (p.Ala360Pro) c.4873G>C (p.Ala1625Pro) c.4855G>C (p.Ala1619Pro) c.1210G>C (p.Ala404Pro) c.4876G>C (p.Ala1626Pro) c.4984G>C (p.Ala1662Pro) n.11342G>C n.11333G>C | |
10 | g.53806752C>T | CA376516213 | PCDH15 | c.3909G>A c.5050G>A (p.Ala1684Thr) c.4861G>A (p.Ala1621Thr) c.4858G>A (p.Ala1620Thr) c.1078G>A (p.Ala360Thr) c.4873G>A (p.Ala1625Thr) c.4855G>A (p.Ala1619Thr) c.1210G>A (p.Ala404Thr) c.4876G>A (p.Ala1626Thr) c.4984G>A (p.Ala1662Thr) n.11342G>A n.11333G>A | |
10 | g.53806753T>A | CA469545883 | PCDH15 | c.3908A>T c.5049A>T (p.Thr1683=) c.4860A>T (p.Thr1620=) c.4857A>T (p.Thr1619=) c.1077A>T (p.Thr359=) c.4872A>T (p.Thr1624=) c.4854A>T (p.Thr1618=) c.1209A>T (p.Thr403=) c.4875A>T (p.Thr1625=) c.4983A>T (p.Thr1661=) n.11341A>T n.11332A>T | |
10 | g.53806753T>C | CA469545884 | PCDH15 | c.3908A>G c.5049A>G (p.Thr1683=) c.4860A>G (p.Thr1620=) c.4857A>G (p.Thr1619=) c.1077A>G (p.Thr359=) c.4872A>G (p.Thr1624=) c.4854A>G (p.Thr1618=) c.1209A>G (p.Thr403=) c.4875A>G (p.Thr1625=) c.4983A>G (p.Thr1661=) n.11341A>G n.11332A>G | dbSNP gnomAD v4 |
10 | g.53806753T>G | CA469545885 | PCDH15 | c.3908A>C c.5049A>C (p.Thr1683=) c.4860A>C (p.Thr1620=) c.4857A>C (p.Thr1619=) c.1077A>C (p.Thr359=) c.4872A>C (p.Thr1624=) c.4854A>C (p.Thr1618=) c.1209A>C (p.Thr403=) c.4875A>C (p.Thr1625=) c.4983A>C (p.Thr1661=) n.11341A>C n.11332A>C | |
10 | g.53806753T= | CA1910756186 | PCDH15 | c.3908A= c.5049A= (p.Thr1683=) c.4860A= (p.Thr1620=) c.4857A= (p.Thr1619=) c.1077A= (p.Thr359=) c.4872A= (p.Thr1624=) c.4854A= (p.Thr1618=) c.1209A= (p.Thr403=) c.4875A= (p.Thr1625=) c.4983A= (p.Thr1661=) n.11341A= n.11332A= | |
10 | g.53806754G>A | CA376516216 | PCDH15 | c.3907C>T c.5048C>T (p.Thr1683Ile) c.4859C>T (p.Thr1620Ile) c.4856C>T (p.Thr1619Ile) c.1076C>T (p.Thr359Ile) c.4871C>T (p.Thr1624Ile) c.4853C>T (p.Thr1618Ile) c.1208C>T (p.Thr403Ile) c.4874C>T (p.Thr1625Ile) c.4982C>T (p.Thr1661Ile) n.11340C>T n.11331C>T | |
10 | g.53806754G>C | CA376516215 | PCDH15 | c.3907C>G c.5048C>G (p.Thr1683Arg) c.4859C>G (p.Thr1620Arg) c.4856C>G (p.Thr1619Arg) c.1076C>G (p.Thr359Arg) c.4871C>G (p.Thr1624Arg) c.4853C>G (p.Thr1618Arg) c.1208C>G (p.Thr403Arg) c.4874C>G (p.Thr1625Arg) c.4982C>G (p.Thr1661Arg) n.11340C>G n.11331C>G | |
10 | g.53806754G>T | CA376516214 | PCDH15 | c.3907C>A c.5048C>A (p.Thr1683Lys) c.4859C>A (p.Thr1620Lys) c.4856C>A (p.Thr1619Lys) c.1076C>A (p.Thr359Lys) c.4871C>A (p.Thr1624Lys) c.4853C>A (p.Thr1618Lys) c.1208C>A (p.Thr403Lys) c.4874C>A (p.Thr1625Lys) c.4982C>A (p.Thr1661Lys) n.11340C>A n.11331C>A | |
10 | g.53806755T>A | CA376516222 | PCDH15 | c.3906A>T c.5047A>T (p.Thr1683Ser) c.4858A>T (p.Thr1620Ser) c.4855A>T (p.Thr1619Ser) c.1075A>T (p.Thr359Ser) c.4870A>T (p.Thr1624Ser) c.4852A>T (p.Thr1618Ser) c.1207A>T (p.Thr403Ser) c.4873A>T (p.Thr1625Ser) c.4981A>T (p.Thr1661Ser) n.11339A>T n.11330A>T | |
10 | g.53806755T>C | CA376516218 | PCDH15 | c.3906A>G c.5047A>G (p.Thr1683Ala) c.4858A>G (p.Thr1620Ala) c.4855A>G (p.Thr1619Ala) c.1075A>G (p.Thr359Ala) c.4870A>G (p.Thr1624Ala) c.4852A>G (p.Thr1618Ala) c.1207A>G (p.Thr403Ala) c.4873A>G (p.Thr1625Ala) c.4981A>G (p.Thr1661Ala) n.11339A>G n.11330A>G | gnomAD v4 |
10 | g.53806755T>G | CA376516220 | PCDH15 | c.3906A>C c.5047A>C (p.Thr1683Pro) c.4858A>C (p.Thr1620Pro) c.4855A>C (p.Thr1619Pro) c.1075A>C (p.Thr359Pro) c.4870A>C (p.Thr1624Pro) c.4852A>C (p.Thr1618Pro) c.1207A>C (p.Thr403Pro) c.4873A>C (p.Thr1625Pro) c.4981A>C (p.Thr1661Pro) n.11339A>C n.11330A>C | |
10 | g.53806755_53806762dup | CA2609218339 | PCDH15 | c.3899_3906dup c.5040_5047dup (p.Thr1683MetfsTer6) c.4851_4858dup (p.Thr1620MetfsTer6) c.4848_4855dup (p.Thr1619MetfsTer6) c.1068_1075dup (p.Thr359MetfsTer6) c.4863_4870dup (p.Thr1624MetfsTer6) c.4845_4852dup (p.Thr1618MetfsTer6) c.1200_1207dup (p.Thr403MetfsTer6) c.4866_4873dup (p.Thr1625MetfsTer6) c.4974_4981dup (p.Thr1661MetfsTer6) n.11332_11339dup n.11323_11330dup | gnomAD v4 |
10 | g.53806756A= | CA1910756188 | PCDH15 | c.3905T= c.5046T= (p.Asn1682=) c.4857T= (p.Asn1619=) c.4854T= (p.Asn1618=) c.1074T= (p.Asn358=) c.4869T= (p.Asn1623=) c.4851T= (p.Asn1617=) c.1206T= (p.Asn402=) c.4872T= (p.Asn1624=) c.4980T= (p.Asn1660=) n.11338T= n.11329T= | |
10 | g.53806756A>C | CA376516224 | PCDH15 | c.3905T>G c.5046T>G (p.Asn1682Lys) c.4857T>G (p.Asn1619Lys) c.4854T>G (p.Asn1618Lys) c.1074T>G (p.Asn358Lys) c.4869T>G (p.Asn1623Lys) c.4851T>G (p.Asn1617Lys) c.1206T>G (p.Asn402Lys) c.4872T>G (p.Asn1624Lys) c.4980T>G (p.Asn1660Lys) n.11338T>G n.11329T>G | |
10 | g.53806756A>G | CA5504532 | PCDH15 | c.3905T>C c.5046T>C (p.Asn1682=) c.4857T>C (p.Asn1619=) c.4854T>C (p.Asn1618=) c.1074T>C (p.Asn358=) c.4869T>C (p.Asn1623=) c.4851T>C (p.Asn1617=) c.1206T>C (p.Asn402=) c.4872T>C (p.Asn1624=) c.4980T>C (p.Asn1660=) n.11338T>C n.11329T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806756A>T | CA376516227 | PCDH15 | c.3905T>A c.5046T>A (p.Asn1682Lys) c.4857T>A (p.Asn1619Lys) c.4854T>A (p.Asn1618Lys) c.1074T>A (p.Asn358Lys) c.4869T>A (p.Asn1623Lys) c.4851T>A (p.Asn1617Lys) c.1206T>A (p.Asn402Lys) c.4872T>A (p.Asn1624Lys) c.4980T>A (p.Asn1660Lys) n.11338T>A n.11329T>A | |
10 | g.53806757T>A | CA376516239 | PCDH15 | c.3904A>T c.5045A>T (p.Asn1682Ile) c.4856A>T (p.Asn1619Ile) c.4853A>T (p.Asn1618Ile) c.1073A>T (p.Asn358Ile) c.4868A>T (p.Asn1623Ile) c.4850A>T (p.Asn1617Ile) c.1205A>T (p.Asn402Ile) c.4871A>T (p.Asn1624Ile) c.4979A>T (p.Asn1660Ile) n.11337A>T n.11328A>T | |
10 | g.53806757T>C | CA5504534 | PCDH15 | c.3904A>G c.5045A>G (p.Asn1682Ser) c.4856A>G (p.Asn1619Ser) c.4853A>G (p.Asn1618Ser) c.1073A>G (p.Asn358Ser) c.4868A>G (p.Asn1623Ser) c.4850A>G (p.Asn1617Ser) c.1205A>G (p.Asn402Ser) c.4871A>G (p.Asn1624Ser) c.4979A>G (p.Asn1660Ser) n.11337A>G n.11328A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806757T>G | CA376516236 | PCDH15 | c.3904A>C c.5045A>C (p.Asn1682Thr) c.4856A>C (p.Asn1619Thr) c.4853A>C (p.Asn1618Thr) c.1073A>C (p.Asn358Thr) c.4868A>C (p.Asn1623Thr) c.4850A>C (p.Asn1617Thr) c.1205A>C (p.Asn402Thr) c.4871A>C (p.Asn1624Thr) c.4979A>C (p.Asn1660Thr) n.11337A>C n.11328A>C | |
10 | g.53806757T= | CA1910756191 | PCDH15 | c.3904A= c.5045A= (p.Asn1682=) c.4856A= (p.Asn1619=) c.4853A= (p.Asn1618=) c.1073A= (p.Asn358=) c.4868A= (p.Asn1623=) c.4850A= (p.Asn1617=) c.1205A= (p.Asn402=) c.4871A= (p.Asn1624=) c.4979A= (p.Asn1660=) n.11337A= n.11328A= | |
10 | g.53806758_53806760dup | CA658822070 | PCDH15 | c.3902_3904dup c.5043_5045dup (p.Asn1682_Thr1683insAsn) c.4854_4856dup (p.Asn1619_Thr1620insAsn) c.4851_4853dup (p.Asn1618_Thr1619insAsn) c.1071_1073dup (p.Asn358_Thr359insAsn) c.4866_4868dup (p.Asn1623_Thr1624insAsn) c.4848_4850dup (p.Asn1617_Thr1618insAsn) c.1203_1205dup (p.Asn402_Thr403insAsn) c.4869_4871dup (p.Asn1624_Thr1625insAsn) c.4977_4979dup (p.Asn1660_Thr1661insAsn) n.11335_11337dup n.11326_11328dup | ClinVar dbSNP |
10 | g.53806758T>A | CA376516240 | PCDH15 | c.3903A>T c.5044A>T (p.Asn1682Tyr) c.4855A>T (p.Asn1619Tyr) c.4852A>T (p.Asn1618Tyr) c.1072A>T (p.Asn358Tyr) c.4867A>T (p.Asn1623Tyr) c.4849A>T (p.Asn1617Tyr) c.1204A>T (p.Asn402Tyr) c.4870A>T (p.Asn1624Tyr) c.4978A>T (p.Asn1660Tyr) n.11336A>T n.11327A>T | |
10 | g.53806758T>C | CA5504535 | PCDH15 | c.3903A>G c.5044A>G (p.Asn1682Asp) c.4855A>G (p.Asn1619Asp) c.4852A>G (p.Asn1618Asp) c.1072A>G (p.Asn358Asp) c.4867A>G (p.Asn1623Asp) c.4849A>G (p.Asn1617Asp) c.1204A>G (p.Asn402Asp) c.4870A>G (p.Asn1624Asp) c.4978A>G (p.Asn1660Asp) n.11336A>G n.11327A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806758T>G | CA376516241 | PCDH15 | c.3903A>C c.5044A>C (p.Asn1682His) c.4855A>C (p.Asn1619His) c.4852A>C (p.Asn1618His) c.1072A>C (p.Asn358His) c.4867A>C (p.Asn1623His) c.4849A>C (p.Asn1617His) c.1204A>C (p.Asn402His) c.4870A>C (p.Asn1624His) c.4978A>C (p.Asn1660His) n.11336A>C n.11327A>C | |
10 | g.53806758T= | CA1910756195 | PCDH15 | c.3903A= c.5044A= (p.Asn1682=) c.4855A= (p.Asn1619=) c.4852A= (p.Asn1618=) c.1072A= (p.Asn358=) c.4867A= (p.Asn1623=) c.4849A= (p.Asn1617=) c.1204A= (p.Asn402=) c.4870A= (p.Asn1624=) c.4978A= (p.Asn1660=) n.11336A= n.11327A= | |
10 | g.53806758_53806761dup | CA5504533 | PCDH15 | c.3900_3903dup c.5041_5044dup (p.Asn1682ArgfsTer17) c.4852_4855dup (p.Asn1619ArgfsTer17) c.4849_4852dup (p.Asn1618ArgfsTer17) c.1069_1072dup (p.Asn358ArgfsTer17) c.4864_4867dup (p.Asn1623ArgfsTer17) c.4846_4849dup (p.Asn1617ArgfsTer17) c.1201_1204dup (p.Asn402ArgfsTer17) c.4867_4870dup (p.Asn1624ArgfsTer17) c.4975_4978dup (p.Asn1660ArgfsTer17) n.11333_11336dup n.11324_11327dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806759G>A | CA469545887 | PCDH15 | c.3902C>T c.5043C>T (p.Asp1681=) c.4854C>T (p.Asp1618=) c.4851C>T (p.Asp1617=) c.1071C>T (p.Asp357=) c.4866C>T (p.Asp1622=) c.4848C>T (p.Asp1616=) c.1203C>T (p.Asp401=) c.4869C>T (p.Asp1623=) c.4977C>T (p.Asp1659=) n.11335C>T n.11326C>T | gnomAD v4 |
10 | g.53806759G>C | CA376516243 | PCDH15 | c.3902C>G c.5043C>G (p.Asp1681Glu) c.4854C>G (p.Asp1618Glu) c.4851C>G (p.Asp1617Glu) c.1071C>G (p.Asp357Glu) c.4866C>G (p.Asp1622Glu) c.4848C>G (p.Asp1616Glu) c.1203C>G (p.Asp401Glu) c.4869C>G (p.Asp1623Glu) c.4977C>G (p.Asp1659Glu) n.11335C>G n.11326C>G | |
10 | g.53806759G>T | CA376516245 | PCDH15 | c.3902C>A c.5043C>A (p.Asp1681Glu) c.4854C>A (p.Asp1618Glu) c.4851C>A (p.Asp1617Glu) c.1071C>A (p.Asp357Glu) c.4866C>A (p.Asp1622Glu) c.4848C>A (p.Asp1616Glu) c.1203C>A (p.Asp401Glu) c.4869C>A (p.Asp1623Glu) c.4977C>A (p.Asp1659Glu) n.11335C>A n.11326C>A | |
10 | g.53806762_53806765dup | CA469545886 | PCDH15 | c.3899_3902dup c.5040_5043dup (p.Asn1682Ter) c.4851_4854dup (p.Asn1619Ter) c.4848_4851dup (p.Asn1618Ter) c.1068_1071dup (p.Asn358Ter) c.4863_4866dup (p.Asn1623Ter) c.4845_4848dup (p.Asn1617Ter) c.1200_1203dup (p.Asn402Ter) c.4866_4869dup (p.Asn1624Ter) c.4974_4977dup (p.Asn1660Ter) n.11332_11335dup n.11323_11326dup | |
10 | g.53806760T>A | CA5504536 | PCDH15 | c.3901A>T c.5042A>T (p.Asp1681Val) c.4853A>T (p.Asp1618Val) c.4850A>T (p.Asp1617Val) c.1070A>T (p.Asp357Val) c.4865A>T (p.Asp1622Val) c.4847A>T (p.Asp1616Val) c.1202A>T (p.Asp401Val) c.4868A>T (p.Asp1623Val) c.4976A>T (p.Asp1659Val) n.11334A>T n.11325A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806760T>C | CA376516249 | PCDH15 | c.3901A>G c.5042A>G (p.Asp1681Gly) c.4853A>G (p.Asp1618Gly) c.4850A>G (p.Asp1617Gly) c.1070A>G (p.Asp357Gly) c.4865A>G (p.Asp1622Gly) c.4847A>G (p.Asp1616Gly) c.1202A>G (p.Asp401Gly) c.4868A>G (p.Asp1623Gly) c.4976A>G (p.Asp1659Gly) n.11334A>G n.11325A>G | |
10 | g.53806760T>G | CA376516248 | PCDH15 | c.3901A>C c.5042A>C (p.Asp1681Ala) c.4853A>C (p.Asp1618Ala) c.4850A>C (p.Asp1617Ala) c.1070A>C (p.Asp357Ala) c.4865A>C (p.Asp1622Ala) c.4847A>C (p.Asp1616Ala) c.1202A>C (p.Asp401Ala) c.4868A>C (p.Asp1623Ala) c.4976A>C (p.Asp1659Ala) n.11334A>C n.11325A>C | |
10 | g.53806760T= | CA1910756200 | PCDH15 | c.3901A= c.5042A= (p.Asp1681=) c.4853A= (p.Asp1618=) c.4850A= (p.Asp1617=) c.1070A= (p.Asp357=) c.4865A= (p.Asp1622=) c.4847A= (p.Asp1616=) c.1202A= (p.Asp401=) c.4868A= (p.Asp1623=) c.4976A= (p.Asp1659=) n.11334A= n.11325A= | |
10 | g.53806761C>A | CA376516250 | PCDH15 | c.3900G>T c.5041G>T (p.Asp1681Tyr) c.4852G>T (p.Asp1618Tyr) c.4849G>T (p.Asp1617Tyr) c.1069G>T (p.Asp357Tyr) c.4864G>T (p.Asp1622Tyr) c.4846G>T (p.Asp1616Tyr) c.1201G>T (p.Asp401Tyr) c.4867G>T (p.Asp1623Tyr) c.4975G>T (p.Asp1659Tyr) n.11333G>T n.11324G>T | |
10 | g.53806761C>G | CA376516251 | PCDH15 | c.3900G>C c.5041G>C (p.Asp1681His) c.4852G>C (p.Asp1618His) c.4849G>C (p.Asp1617His) c.1069G>C (p.Asp357His) c.4864G>C (p.Asp1622His) c.4846G>C (p.Asp1616His) c.1201G>C (p.Asp401His) c.4867G>C (p.Asp1623His) c.4975G>C (p.Asp1659His) n.11333G>C n.11324G>C | |
10 | g.53806761C>T | CA376516253 | PCDH15 | c.3900G>A c.5041G>A (p.Asp1681Asn) c.4852G>A (p.Asp1618Asn) c.4849G>A (p.Asp1617Asn) c.1069G>A (p.Asp357Asn) c.4864G>A (p.Asp1622Asn) c.4846G>A (p.Asp1616Asn) c.1201G>A (p.Asp401Asn) c.4867G>A (p.Asp1623Asn) c.4975G>A (p.Asp1659Asn) n.11333G>A n.11324G>A | |
10 | g.53806762A>C | CA469545888 | PCDH15 | c.3899T>G c.5040T>G (p.Thr1680=) c.4851T>G (p.Thr1617=) c.4848T>G (p.Thr1616=) c.1068T>G (p.Thr356=) c.4863T>G (p.Thr1621=) c.4845T>G (p.Thr1615=) c.1200T>G (p.Thr400=) c.4866T>G (p.Thr1622=) c.4974T>G (p.Thr1658=) n.11332T>G n.11323T>G | gnomAD v4 |
10 | g.53806762A>G | CA469545889 | PCDH15 | c.3899T>C c.5040T>C (p.Thr1680=) c.4851T>C (p.Thr1617=) c.4848T>C (p.Thr1616=) c.1068T>C (p.Thr356=) c.4863T>C (p.Thr1621=) c.4845T>C (p.Thr1615=) c.1200T>C (p.Thr400=) c.4866T>C (p.Thr1622=) c.4974T>C (p.Thr1658=) n.11332T>C n.11323T>C | |
10 | g.53806762A>T | CA469545890 | PCDH15 | c.3899T>A c.5040T>A (p.Thr1680=) c.4851T>A (p.Thr1617=) c.4848T>A (p.Thr1616=) c.1068T>A (p.Thr356=) c.4863T>A (p.Thr1621=) c.4845T>A (p.Thr1615=) c.1200T>A (p.Thr400=) c.4866T>A (p.Thr1622=) c.4974T>A (p.Thr1658=) n.11332T>A n.11323T>A | COSMIC |
10 | g.53806763G>A | CA376516255 | PCDH15 | c.3898C>T c.5039C>T (p.Thr1680Ile) c.4850C>T (p.Thr1617Ile) c.4847C>T (p.Thr1616Ile) c.1067C>T (p.Thr356Ile) c.4862C>T (p.Thr1621Ile) c.4844C>T (p.Thr1615Ile) c.1199C>T (p.Thr400Ile) c.4865C>T (p.Thr1622Ile) c.4973C>T (p.Thr1658Ile) n.11331C>T n.11322C>T | |
10 | g.53806763G>C | CA376516258 | PCDH15 | c.3898C>G c.5039C>G (p.Thr1680Ser) c.4850C>G (p.Thr1617Ser) c.4847C>G (p.Thr1616Ser) c.1067C>G (p.Thr356Ser) c.4862C>G (p.Thr1621Ser) c.4844C>G (p.Thr1615Ser) c.1199C>G (p.Thr400Ser) c.4865C>G (p.Thr1622Ser) c.4973C>G (p.Thr1658Ser) n.11331C>G n.11322C>G | gnomAD v4 |
10 | g.53806763G>T | CA376516259 | PCDH15 | c.3898C>A c.5039C>A (p.Thr1680Asn) c.4850C>A (p.Thr1617Asn) c.4847C>A (p.Thr1616Asn) c.1067C>A (p.Thr356Asn) c.4862C>A (p.Thr1621Asn) c.4844C>A (p.Thr1615Asn) c.1199C>A (p.Thr400Asn) c.4865C>A (p.Thr1622Asn) c.4973C>A (p.Thr1658Asn) n.11331C>A n.11322C>A | |
10 | g.53806764T>A | CA376516260 | PCDH15 | c.3897A>T c.5038A>T (p.Thr1680Ser) c.4849A>T (p.Thr1617Ser) c.4846A>T (p.Thr1616Ser) c.1066A>T (p.Thr356Ser) c.4861A>T (p.Thr1621Ser) c.4843A>T (p.Thr1615Ser) c.1198A>T (p.Thr400Ser) c.4864A>T (p.Thr1622Ser) c.4972A>T (p.Thr1658Ser) n.11330A>T n.11321A>T | |
10 | g.53806764T>C | CA376516263 | PCDH15 | c.3897A>G c.5038A>G (p.Thr1680Ala) c.4849A>G (p.Thr1617Ala) c.4846A>G (p.Thr1616Ala) c.1066A>G (p.Thr356Ala) c.4861A>G (p.Thr1621Ala) c.4843A>G (p.Thr1615Ala) c.1198A>G (p.Thr400Ala) c.4864A>G (p.Thr1622Ala) c.4972A>G (p.Thr1658Ala) n.11330A>G n.11321A>G | |
10 | g.53806764T>G | CA376516265 | PCDH15 | c.3897A>C c.5038A>C (p.Thr1680Pro) c.4849A>C (p.Thr1617Pro) c.4846A>C (p.Thr1616Pro) c.1066A>C (p.Thr356Pro) c.4861A>C (p.Thr1621Pro) c.4843A>C (p.Thr1615Pro) c.1198A>C (p.Thr400Pro) c.4864A>C (p.Thr1622Pro) c.4972A>C (p.Thr1658Pro) n.11330A>C n.11321A>C | |
10 | g.53806765C>A | CA469545891 | PCDH15 | c.3896G>T c.5037G>T (p.Gly1679=) c.4848G>T (p.Gly1616=) c.4845G>T (p.Gly1615=) c.1065G>T (p.Gly355=) c.4860G>T (p.Gly1620=) c.4842G>T (p.Gly1614=) c.1197G>T (p.Gly399=) c.4863G>T (p.Gly1621=) c.4971G>T (p.Gly1657=) n.11329G>T n.11320G>T | gnomAD v4 |
10 | g.53806765C>G | CA469545892 | PCDH15 | c.3896G>C c.5037G>C (p.Gly1679=) c.4848G>C (p.Gly1616=) c.4845G>C (p.Gly1615=) c.1065G>C (p.Gly355=) c.4860G>C (p.Gly1620=) c.4842G>C (p.Gly1614=) c.1197G>C (p.Gly399=) c.4863G>C (p.Gly1621=) c.4971G>C (p.Gly1657=) n.11329G>C n.11320G>C | |
10 | g.53806765C>T | CA469545893 | PCDH15 | c.3896G>A c.5037G>A (p.Gly1679=) c.4848G>A (p.Gly1616=) c.4845G>A (p.Gly1615=) c.1065G>A (p.Gly355=) c.4860G>A (p.Gly1620=) c.4842G>A (p.Gly1614=) c.1197G>A (p.Gly399=) c.4863G>A (p.Gly1621=) c.4971G>A (p.Gly1657=) n.11329G>A n.11320G>A | |
10 | g.53806766C>A | CA376516266 | PCDH15 | c.3895G>T c.5036G>T (p.Gly1679Val) c.4847G>T (p.Gly1616Val) c.4844G>T (p.Gly1615Val) c.1064G>T (p.Gly355Val) c.4859G>T (p.Gly1620Val) c.4841G>T (p.Gly1614Val) c.1196G>T (p.Gly399Val) c.4862G>T (p.Gly1621Val) c.4970G>T (p.Gly1657Val) n.11328G>T n.11319G>T | |
10 | g.53806766C= | CA1910756202 | PCDH15 | c.3895G= c.5036G= (p.Gly1679=) c.4847G= (p.Gly1616=) c.4844G= (p.Gly1615=) c.1064G= (p.Gly355=) c.4859G= (p.Gly1620=) c.4841G= (p.Gly1614=) c.1196G= (p.Gly399=) c.4862G= (p.Gly1621=) c.4970G= (p.Gly1657=) n.11328G= n.11319G= | |
10 | g.53806766C>G | CA376516267 | PCDH15 | c.3895G>C c.5036G>C (p.Gly1679Ala) c.4847G>C (p.Gly1616Ala) c.4844G>C (p.Gly1615Ala) c.1064G>C (p.Gly355Ala) c.4859G>C (p.Gly1620Ala) c.4841G>C (p.Gly1614Ala) c.1196G>C (p.Gly399Ala) c.4862G>C (p.Gly1621Ala) c.4970G>C (p.Gly1657Ala) n.11328G>C n.11319G>C | |
10 | g.53806766C>T | CA5504537 | PCDH15 | c.3895G>A c.5036G>A (p.Gly1679Glu) c.4847G>A (p.Gly1616Glu) c.4844G>A (p.Gly1615Glu) c.1064G>A (p.Gly355Glu) c.4859G>A (p.Gly1620Glu) c.4841G>A (p.Gly1614Glu) c.1196G>A (p.Gly399Glu) c.4862G>A (p.Gly1621Glu) c.4970G>A (p.Gly1657Glu) n.11328G>A n.11319G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.53806767C>A | CA5504538 | PCDH15 | c.3894G>T c.5035G>T (p.Gly1679Trp) c.4846G>T (p.Gly1616Trp) c.4843G>T (p.Gly1615Trp) c.1063G>T (p.Gly355Trp) c.4858G>T (p.Gly1620Trp) c.4840G>T (p.Gly1614Trp) c.1195G>T (p.Gly399Trp) c.4861G>T (p.Gly1621Trp) c.4969G>T (p.Gly1657Trp) n.11327G>T n.11318G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806767C= | CA1910756204 | PCDH15 | c.3894G= c.5035G= (p.Gly1679=) c.4846G= (p.Gly1616=) c.4843G= (p.Gly1615=) c.1063G= (p.Gly355=) c.4858G= (p.Gly1620=) c.4840G= (p.Gly1614=) c.1195G= (p.Gly399=) c.4861G= (p.Gly1621=) c.4969G= (p.Gly1657=) n.11327G= n.11318G= | |
10 | g.53806767C>G | CA376516280 | PCDH15 | c.3894G>C c.5035G>C (p.Gly1679Arg) c.4846G>C (p.Gly1616Arg) c.4843G>C (p.Gly1615Arg) c.1063G>C (p.Gly355Arg) c.4858G>C (p.Gly1620Arg) c.4840G>C (p.Gly1614Arg) c.1195G>C (p.Gly399Arg) c.4861G>C (p.Gly1621Arg) c.4969G>C (p.Gly1657Arg) n.11327G>C n.11318G>C | |
10 | g.53806767C>T | CA376516273 | PCDH15 | c.3894G>A c.5035G>A (p.Gly1679Arg) c.4846G>A (p.Gly1616Arg) c.4843G>A (p.Gly1615Arg) c.1063G>A (p.Gly355Arg) c.4858G>A (p.Gly1620Arg) c.4840G>A (p.Gly1614Arg) c.1195G>A (p.Gly399Arg) c.4861G>A (p.Gly1621Arg) c.4969G>A (p.Gly1657Arg) n.11327G>A n.11318G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806768C>A | CA469545894 | PCDH15 | c.3893G>T c.5034G>T (p.Val1678=) c.4845G>T (p.Val1615=) c.4842G>T (p.Val1614=) c.1062G>T (p.Val354=) c.4857G>T (p.Val1619=) c.4839G>T (p.Val1613=) c.1194G>T (p.Val398=) c.4860G>T (p.Val1620=) c.4968G>T (p.Val1656=) n.11326G>T n.11317G>T | |
10 | g.53806768C>G | CA469545895 | PCDH15 | c.3893G>C c.5034G>C (p.Val1678=) c.4845G>C (p.Val1615=) c.4842G>C (p.Val1614=) c.1062G>C (p.Val354=) c.4857G>C (p.Val1619=) c.4839G>C (p.Val1613=) c.1194G>C (p.Val398=) c.4860G>C (p.Val1620=) c.4968G>C (p.Val1656=) n.11326G>C n.11317G>C | |
10 | g.53806768C>T | CA469545896 | PCDH15 | c.3893G>A c.5034G>A (p.Val1678=) c.4845G>A (p.Val1615=) c.4842G>A (p.Val1614=) c.1062G>A (p.Val354=) c.4857G>A (p.Val1619=) c.4839G>A (p.Val1613=) c.1194G>A (p.Val398=) c.4860G>A (p.Val1620=) c.4968G>A (p.Val1656=) n.11326G>A n.11317G>A | |
10 | g.53806769A>C | CA376516282 | PCDH15 | c.3892T>G c.5033T>G (p.Val1678Gly) c.4844T>G (p.Val1615Gly) c.4841T>G (p.Val1614Gly) c.1061T>G (p.Val354Gly) c.4856T>G (p.Val1619Gly) c.4838T>G (p.Val1613Gly) c.1193T>G (p.Val398Gly) c.4859T>G (p.Val1620Gly) c.4967T>G (p.Val1656Gly) n.11325T>G n.11316T>G | |
10 | g.53806769A>G | CA376516283 | PCDH15 | c.3892T>C c.5033T>C (p.Val1678Ala) c.4844T>C (p.Val1615Ala) c.4841T>C (p.Val1614Ala) c.1061T>C (p.Val354Ala) c.4856T>C (p.Val1619Ala) c.4838T>C (p.Val1613Ala) c.1193T>C (p.Val398Ala) c.4859T>C (p.Val1620Ala) c.4967T>C (p.Val1656Ala) n.11325T>C n.11316T>C | dbSNP |
10 | g.53806769A>T | CA376516286 | PCDH15 | c.3892T>A c.5033T>A (p.Val1678Glu) c.4844T>A (p.Val1615Glu) c.4841T>A (p.Val1614Glu) c.1061T>A (p.Val354Glu) c.4856T>A (p.Val1619Glu) c.4838T>A (p.Val1613Glu) c.1193T>A (p.Val398Glu) c.4859T>A (p.Val1620Glu) c.4967T>A (p.Val1656Glu) n.11325T>A n.11316T>A | |
10 | g.53806770C>A | CA376516287 | PCDH15 | c.3891G>T c.5032G>T (p.Val1678Leu) c.4843G>T (p.Val1615Leu) c.4840G>T (p.Val1614Leu) c.1060G>T (p.Val354Leu) c.4855G>T (p.Val1619Leu) c.4837G>T (p.Val1613Leu) c.1192G>T (p.Val398Leu) c.4858G>T (p.Val1620Leu) c.4966G>T (p.Val1656Leu) n.11324G>T n.11315G>T | gnomAD v4 |
10 | g.53806770C= | CA1910756207 | PCDH15 | c.3891G= c.5032G= (p.Val1678=) c.4843G= (p.Val1615=) c.4840G= (p.Val1614=) c.1060G= (p.Val354=) c.4855G= (p.Val1619=) c.4837G= (p.Val1613=) c.1192G= (p.Val398=) c.4858G= (p.Val1620=) c.4966G= (p.Val1656=) n.11324G= n.11315G= | |
10 | g.53806770C>G | CA376516288 | PCDH15 | c.3891G>C c.5032G>C (p.Val1678Leu) c.4843G>C (p.Val1615Leu) c.4840G>C (p.Val1614Leu) c.1060G>C (p.Val354Leu) c.4855G>C (p.Val1619Leu) c.4837G>C (p.Val1613Leu) c.1192G>C (p.Val398Leu) c.4858G>C (p.Val1620Leu) c.4966G>C (p.Val1656Leu) n.11324G>C n.11315G>C | |
10 | g.53806770C>T | CA376516289 | PCDH15 | c.3891G>A c.5032G>A (p.Val1678Met) c.4843G>A (p.Val1615Met) c.4840G>A (p.Val1614Met) c.1060G>A (p.Val354Met) c.4855G>A (p.Val1619Met) c.4837G>A (p.Val1613Met) c.1192G>A (p.Val398Met) c.4858G>A (p.Val1620Met) c.4966G>A (p.Val1656Met) n.11324G>A n.11315G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806771A>C | CA469545899 | PCDH15 | c.3890T>G c.5031T>G (p.Pro1677=) c.4842T>G (p.Pro1614=) c.4839T>G (p.Pro1613=) c.1059T>G (p.Pro353=) c.4854T>G (p.Pro1618=) c.4836T>G (p.Pro1612=) c.1191T>G (p.Pro397=) c.4857T>G (p.Pro1619=) c.4965T>G (p.Pro1655=) n.11323T>G n.11314T>G | |
10 | g.53806771A>G | CA469545897 | PCDH15 | c.3890T>C c.5031T>C (p.Pro1677=) c.4842T>C (p.Pro1614=) c.4839T>C (p.Pro1613=) c.1059T>C (p.Pro353=) c.4854T>C (p.Pro1618=) c.4836T>C (p.Pro1612=) c.1191T>C (p.Pro397=) c.4857T>C (p.Pro1619=) c.4965T>C (p.Pro1655=) n.11323T>C n.11314T>C | |
10 | g.53806771A>T | CA469545898 | PCDH15 | c.3890T>A c.5031T>A (p.Pro1677=) c.4842T>A (p.Pro1614=) c.4839T>A (p.Pro1613=) c.1059T>A (p.Pro353=) c.4854T>A (p.Pro1618=) c.4836T>A (p.Pro1612=) c.1191T>A (p.Pro397=) c.4857T>A (p.Pro1619=) c.4965T>A (p.Pro1655=) n.11323T>A n.11314T>A | |
10 | g.53806772G>A | CA376516298 | PCDH15 | c.3889C>T c.5030C>T (p.Pro1677Leu) c.4841C>T (p.Pro1614Leu) c.4838C>T (p.Pro1613Leu) c.1058C>T (p.Pro353Leu) c.4853C>T (p.Pro1618Leu) c.4835C>T (p.Pro1612Leu) c.1190C>T (p.Pro397Leu) c.4856C>T (p.Pro1619Leu) c.4964C>T (p.Pro1655Leu) n.11322C>T n.11313C>T | |
10 | g.53806772G>C | CA376516290 | PCDH15 | c.3889C>G c.5030C>G (p.Pro1677Arg) c.4841C>G (p.Pro1614Arg) c.4838C>G (p.Pro1613Arg) c.1058C>G (p.Pro353Arg) c.4853C>G (p.Pro1618Arg) c.4835C>G (p.Pro1612Arg) c.1190C>G (p.Pro397Arg) c.4856C>G (p.Pro1619Arg) c.4964C>G (p.Pro1655Arg) n.11322C>G n.11313C>G | |
10 | g.53806772G>T | CA376516297 | PCDH15 | c.3889C>A c.5030C>A (p.Pro1677His) c.4841C>A (p.Pro1614His) c.4838C>A (p.Pro1613His) c.1058C>A (p.Pro353His) c.4853C>A (p.Pro1618His) c.4835C>A (p.Pro1612His) c.1190C>A (p.Pro397His) c.4856C>A (p.Pro1619His) c.4964C>A (p.Pro1655His) n.11322C>A n.11313C>A | |
10 | g.53806773G>A | CA376516302 | PCDH15 | c.3888C>T c.5029C>T (p.Pro1677Ser) c.4840C>T (p.Pro1614Ser) c.4837C>T (p.Pro1613Ser) c.1057C>T (p.Pro353Ser) c.4852C>T (p.Pro1618Ser) c.4834C>T (p.Pro1612Ser) c.1189C>T (p.Pro397Ser) c.4855C>T (p.Pro1619Ser) c.4963C>T (p.Pro1655Ser) n.11321C>T n.11312C>T | gnomAD v4 |
10 | g.53806773G>C | CA376516303 | PCDH15 | c.3888C>G c.5029C>G (p.Pro1677Ala) c.4840C>G (p.Pro1614Ala) c.4837C>G (p.Pro1613Ala) c.1057C>G (p.Pro353Ala) c.4852C>G (p.Pro1618Ala) c.4834C>G (p.Pro1612Ala) c.1189C>G (p.Pro397Ala) c.4855C>G (p.Pro1619Ala) c.4963C>G (p.Pro1655Ala) n.11321C>G n.11312C>G | |
10 | g.53806773G>T | CA376516304 | PCDH15 | c.3888C>A c.5029C>A (p.Pro1677Thr) c.4840C>A (p.Pro1614Thr) c.4837C>A (p.Pro1613Thr) c.1057C>A (p.Pro353Thr) c.4852C>A (p.Pro1618Thr) c.4834C>A (p.Pro1612Thr) c.1189C>A (p.Pro397Thr) c.4855C>A (p.Pro1619Thr) c.4963C>A (p.Pro1655Thr) n.11321C>A n.11312C>A | |
10 | g.53806774G>A | CA469545900 | PCDH15 | c.3887C>T c.5028C>T (p.Cys1676=) c.4839C>T (p.Cys1613=) c.4836C>T (p.Cys1612=) c.1056C>T (p.Cys352=) c.4851C>T (p.Cys1617=) c.4833C>T (p.Cys1611=) c.1188C>T (p.Cys396=) c.4854C>T (p.Cys1618=) c.4962C>T (p.Cys1654=) n.11320C>T n.11311C>T | dbSNP |
10 | g.53806774G>C | CA376516305 | PCDH15 | c.3887C>G c.5028C>G (p.Cys1676Trp) c.4839C>G (p.Cys1613Trp) c.4836C>G (p.Cys1612Trp) c.1056C>G (p.Cys352Trp) c.4851C>G (p.Cys1617Trp) c.4833C>G (p.Cys1611Trp) c.1188C>G (p.Cys396Trp) c.4854C>G (p.Cys1618Trp) c.4962C>G (p.Cys1654Trp) n.11320C>G n.11311C>G | |
10 | g.53806774G>T | CA376516317 | PCDH15 | c.3887C>A c.5028C>A (p.Cys1676Ter) c.4839C>A (p.Cys1613Ter) c.4836C>A (p.Cys1612Ter) c.1056C>A (p.Cys352Ter) c.4851C>A (p.Cys1617Ter) c.4833C>A (p.Cys1611Ter) c.1188C>A (p.Cys396Ter) c.4854C>A (p.Cys1618Ter) c.4962C>A (p.Cys1654Ter) n.11320C>A n.11311C>A | |
10 | g.53806775C>A | CA376516330 | PCDH15 | c.3886G>T c.5027G>T (p.Cys1676Phe) c.4838G>T (p.Cys1613Phe) c.4835G>T (p.Cys1612Phe) c.1055G>T (p.Cys352Phe) c.4850G>T (p.Cys1617Phe) c.4832G>T (p.Cys1611Phe) c.1187G>T (p.Cys396Phe) c.4853G>T (p.Cys1618Phe) c.4961G>T (p.Cys1654Phe) n.11319G>T n.11310G>T | |
10 | g.53806775C= | CA1910756209 | PCDH15 | c.3886G= c.5027G= (p.Cys1676=) c.4838G= (p.Cys1613=) c.4835G= (p.Cys1612=) c.1055G= (p.Cys352=) c.4850G= (p.Cys1617=) c.4832G= (p.Cys1611=) c.1187G= (p.Cys396=) c.4853G= (p.Cys1618=) c.4961G= (p.Cys1654=) n.11319G= n.11310G= | |
10 | g.53806775C>G | CA376516326 | PCDH15 | c.3886G>C c.5027G>C (p.Cys1676Ser) c.4838G>C (p.Cys1613Ser) c.4835G>C (p.Cys1612Ser) c.1055G>C (p.Cys352Ser) c.4850G>C (p.Cys1617Ser) c.4832G>C (p.Cys1611Ser) c.1187G>C (p.Cys396Ser) c.4853G>C (p.Cys1618Ser) c.4961G>C (p.Cys1654Ser) n.11319G>C n.11310G>C | dbSNP |
10 | g.53806775C>T | CA376516329 | PCDH15 | c.3886G>A c.5027G>A (p.Cys1676Tyr) c.4838G>A (p.Cys1613Tyr) c.4835G>A (p.Cys1612Tyr) c.1055G>A (p.Cys352Tyr) c.4850G>A (p.Cys1617Tyr) c.4832G>A (p.Cys1611Tyr) c.1187G>A (p.Cys396Tyr) c.4853G>A (p.Cys1618Tyr) c.4961G>A (p.Cys1654Tyr) n.11319G>A n.11310G>A | dbSNP gnomAD v4 |
10 | g.53806776A>C | CA376516331 | PCDH15 | c.3885T>G c.5026T>G (p.Cys1676Gly) c.4837T>G (p.Cys1613Gly) c.4834T>G (p.Cys1612Gly) c.1054T>G (p.Cys352Gly) c.4849T>G (p.Cys1617Gly) c.4831T>G (p.Cys1611Gly) c.1186T>G (p.Cys396Gly) c.4852T>G (p.Cys1618Gly) c.4960T>G (p.Cys1654Gly) n.11318T>G n.11309T>G | |
10 | g.53806776A>G | CA376516332 | PCDH15 | c.3885T>C c.5026T>C (p.Cys1676Arg) c.4837T>C (p.Cys1613Arg) c.4834T>C (p.Cys1612Arg) c.1054T>C (p.Cys352Arg) c.4849T>C (p.Cys1617Arg) c.4831T>C (p.Cys1611Arg) c.1186T>C (p.Cys396Arg) c.4852T>C (p.Cys1618Arg) c.4960T>C (p.Cys1654Arg) n.11318T>C n.11309T>C | |
10 | g.53806776A>T | CA376516333 | PCDH15 | c.3885T>A c.5026T>A (p.Cys1676Ser) c.4837T>A (p.Cys1613Ser) c.4834T>A (p.Cys1612Ser) c.1054T>A (p.Cys352Ser) c.4849T>A (p.Cys1617Ser) c.4831T>A (p.Cys1611Ser) c.1186T>A (p.Cys396Ser) c.4852T>A (p.Cys1618Ser) c.4960T>A (p.Cys1654Ser) n.11318T>A n.11309T>A | |
10 | g.53806777A= | CA1910756213 | PCDH15 | c.3884T= c.5025T= (p.Pro1675=) c.4836T= (p.Pro1612=) c.4833T= (p.Pro1611=) c.1053T= (p.Pro351=) c.4848T= (p.Pro1616=) c.4830T= (p.Pro1610=) c.1185T= (p.Pro395=) c.4851T= (p.Pro1617=) c.4959T= (p.Pro1653=) n.11317T= n.11308T= | |
10 | g.53806777A>C | CA469545901 | PCDH15 | c.3884T>G c.5025T>G (p.Pro1675=) c.4836T>G (p.Pro1612=) c.4833T>G (p.Pro1611=) c.1053T>G (p.Pro351=) c.4848T>G (p.Pro1616=) c.4830T>G (p.Pro1610=) c.1185T>G (p.Pro395=) c.4851T>G (p.Pro1617=) c.4959T>G (p.Pro1653=) n.11317T>G n.11308T>G | dbSNP |
10 | g.53806777A>G | CA469545903 | PCDH15 | c.3884T>C c.5025T>C (p.Pro1675=) c.4836T>C (p.Pro1612=) c.4833T>C (p.Pro1611=) c.1053T>C (p.Pro351=) c.4848T>C (p.Pro1616=) c.4830T>C (p.Pro1610=) c.1185T>C (p.Pro395=) c.4851T>C (p.Pro1617=) c.4959T>C (p.Pro1653=) n.11317T>C n.11308T>C | gnomAD v4 COSMIC |
10 | g.53806777A>T | CA469545902 | PCDH15 | c.3884T>A c.5025T>A (p.Pro1675=) c.4836T>A (p.Pro1612=) c.4833T>A (p.Pro1611=) c.1053T>A (p.Pro351=) c.4848T>A (p.Pro1616=) c.4830T>A (p.Pro1610=) c.1185T>A (p.Pro395=) c.4851T>A (p.Pro1617=) c.4959T>A (p.Pro1653=) n.11317T>A n.11308T>A | |
10 | g.53806778G>A | CA376516336 | PCDH15 | c.3883C>T c.5024C>T (p.Pro1675Leu) c.4835C>T (p.Pro1612Leu) c.4832C>T (p.Pro1611Leu) c.1052C>T (p.Pro351Leu) c.4847C>T (p.Pro1616Leu) c.4829C>T (p.Pro1610Leu) c.1184C>T (p.Pro395Leu) c.4850C>T (p.Pro1617Leu) c.4958C>T (p.Pro1653Leu) n.11316C>T n.11307C>T | dbSNP gnomAD v4 |
10 | g.53806778G>C | CA376516338 | PCDH15 | c.3883C>G c.5024C>G (p.Pro1675Arg) c.4835C>G (p.Pro1612Arg) c.4832C>G (p.Pro1611Arg) c.1052C>G (p.Pro351Arg) c.4847C>G (p.Pro1616Arg) c.4829C>G (p.Pro1610Arg) c.1184C>G (p.Pro395Arg) c.4850C>G (p.Pro1617Arg) c.4958C>G (p.Pro1653Arg) n.11316C>G n.11307C>G | |
10 | g.53806778G= | CA1910756215 | PCDH15 | c.3883C= c.5024C= (p.Pro1675=) c.4835C= (p.Pro1612=) c.4832C= (p.Pro1611=) c.1052C= (p.Pro351=) c.4847C= (p.Pro1616=) c.4829C= (p.Pro1610=) c.1184C= (p.Pro395=) c.4850C= (p.Pro1617=) c.4958C= (p.Pro1653=) n.11316C= n.11307C= | |
10 | g.53806778G>T | CA376516344 | PCDH15 | c.3883C>A c.5024C>A (p.Pro1675His) c.4835C>A (p.Pro1612His) c.4832C>A (p.Pro1611His) c.1052C>A (p.Pro351His) c.4847C>A (p.Pro1616His) c.4829C>A (p.Pro1610His) c.1184C>A (p.Pro395His) c.4850C>A (p.Pro1617His) c.4958C>A (p.Pro1653His) n.11316C>A n.11307C>A | gnomAD v4 |
10 | g.53806781del | CA2609218340 | PCDH15 | c.3883del c.5024del (p.Pro1675LeufsTer11) c.4835del (p.Pro1612LeufsTer11) c.4832del (p.Pro1611LeufsTer11) c.1052del (p.Pro351LeufsTer11) c.4847del (p.Pro1616LeufsTer11) c.4829del (p.Pro1610LeufsTer11) c.1184del (p.Pro395LeufsTer11) c.4850del (p.Pro1617LeufsTer11) c.4958del (p.Pro1653LeufsTer11) n.11316del n.11307del | gnomAD v4 |
10 | g.53806779G>A | CA376516347 | PCDH15 | c.3882C>T c.5023C>T (p.Pro1675Ser) c.4834C>T (p.Pro1612Ser) c.4831C>T (p.Pro1611Ser) c.1051C>T (p.Pro351Ser) c.4846C>T (p.Pro1616Ser) c.4828C>T (p.Pro1610Ser) c.1183C>T (p.Pro395Ser) c.4849C>T (p.Pro1617Ser) c.4957C>T (p.Pro1653Ser) n.11315C>T n.11306C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806779G>C | CA376516349 | PCDH15 | c.3882C>G c.5023C>G (p.Pro1675Ala) c.4834C>G (p.Pro1612Ala) c.4831C>G (p.Pro1611Ala) c.1051C>G (p.Pro351Ala) c.4846C>G (p.Pro1616Ala) c.4828C>G (p.Pro1610Ala) c.1183C>G (p.Pro395Ala) c.4849C>G (p.Pro1617Ala) c.4957C>G (p.Pro1653Ala) n.11315C>G n.11306C>G | |
10 | g.53806779G= | CA1910756218 | PCDH15 | c.3882C= c.5023C= (p.Pro1675=) c.4834C= (p.Pro1612=) c.4831C= (p.Pro1611=) c.1051C= (p.Pro351=) c.4846C= (p.Pro1616=) c.4828C= (p.Pro1610=) c.1183C= (p.Pro395=) c.4849C= (p.Pro1617=) c.4957C= (p.Pro1653=) n.11315C= n.11306C= | |
10 | g.53806779G>T | CA376516356 | PCDH15 | c.3882C>A c.5023C>A (p.Pro1675Thr) c.4834C>A (p.Pro1612Thr) c.4831C>A (p.Pro1611Thr) c.1051C>A (p.Pro351Thr) c.4846C>A (p.Pro1616Thr) c.4828C>A (p.Pro1610Thr) c.1183C>A (p.Pro395Thr) c.4849C>A (p.Pro1617Thr) c.4957C>A (p.Pro1653Thr) n.11315C>A n.11306C>A | gnomAD v4 |
10 | g.53806780G>A | CA5504539 | PCDH15 | c.3881C>T c.5022C>T (p.Ala1674=) c.4833C>T (p.Ala1611=) c.4830C>T (p.Ala1610=) c.1050C>T (p.Ala350=) c.4845C>T (p.Ala1615=) c.4827C>T (p.Ala1609=) c.1182C>T (p.Ala394=) c.4848C>T (p.Ala1616=) c.4956C>T (p.Ala1652=) n.11314C>T n.11305C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806780G>C | CA469545904 | PCDH15 | c.3881C>G c.5022C>G (p.Ala1674=) c.4833C>G (p.Ala1611=) c.4830C>G (p.Ala1610=) c.1050C>G (p.Ala350=) c.4845C>G (p.Ala1615=) c.4827C>G (p.Ala1609=) c.1182C>G (p.Ala394=) c.4848C>G (p.Ala1616=) c.4956C>G (p.Ala1652=) n.11314C>G n.11305C>G | |
10 | g.53806780G= | CA1910756220 | PCDH15 | c.3881C= c.5022C= (p.Ala1674=) c.4833C= (p.Ala1611=) c.4830C= (p.Ala1610=) c.1050C= (p.Ala350=) c.4845C= (p.Ala1615=) c.4827C= (p.Ala1609=) c.1182C= (p.Ala394=) c.4848C= (p.Ala1616=) c.4956C= (p.Ala1652=) n.11314C= n.11305C= | |
10 | g.53806780G>T | CA469545905 | PCDH15 | c.3881C>A c.5022C>A (p.Ala1674=) c.4833C>A (p.Ala1611=) c.4830C>A (p.Ala1610=) c.1050C>A (p.Ala350=) c.4845C>A (p.Ala1615=) c.4827C>A (p.Ala1609=) c.1182C>A (p.Ala394=) c.4848C>A (p.Ala1616=) c.4956C>A (p.Ala1652=) n.11314C>A n.11305C>A | |
10 | g.53806781G>A | CA376516360 | PCDH15 | c.3880C>T c.5021C>T (p.Ala1674Val) c.4832C>T (p.Ala1611Val) c.4829C>T (p.Ala1610Val) c.1049C>T (p.Ala350Val) c.4844C>T (p.Ala1615Val) c.4826C>T (p.Ala1609Val) c.1181C>T (p.Ala394Val) c.4847C>T (p.Ala1616Val) c.4955C>T (p.Ala1652Val) n.11313C>T n.11304C>T | |
10 | g.53806781G>C | CA5504540 | PCDH15 | c.3880C>G c.5021C>G (p.Ala1674Gly) c.4832C>G (p.Ala1611Gly) c.4829C>G (p.Ala1610Gly) c.1049C>G (p.Ala350Gly) c.4844C>G (p.Ala1615Gly) c.4826C>G (p.Ala1609Gly) c.1181C>G (p.Ala394Gly) c.4847C>G (p.Ala1616Gly) c.4955C>G (p.Ala1652Gly) n.11313C>G n.11304C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806781G= | CA1910756224 | PCDH15 | c.3880C= c.5021C= (p.Ala1674=) c.4832C= (p.Ala1611=) c.4829C= (p.Ala1610=) c.1049C= (p.Ala350=) c.4844C= (p.Ala1615=) c.4826C= (p.Ala1609=) c.1181C= (p.Ala394=) c.4847C= (p.Ala1616=) c.4955C= (p.Ala1652=) n.11313C= n.11304C= | |
10 | g.53806781G>T | CA376516361 | PCDH15 | c.3880C>A c.5021C>A (p.Ala1674Asp) c.4832C>A (p.Ala1611Asp) c.4829C>A (p.Ala1610Asp) c.1049C>A (p.Ala350Asp) c.4844C>A (p.Ala1615Asp) c.4826C>A (p.Ala1609Asp) c.1181C>A (p.Ala394Asp) c.4847C>A (p.Ala1616Asp) c.4955C>A (p.Ala1652Asp) n.11313C>A n.11304C>A | dbSNP |
10 | g.53806782C>A | CA376516364 | PCDH15 | c.3879G>T c.5020G>T (p.Ala1674Ser) c.4831G>T (p.Ala1611Ser) c.4828G>T (p.Ala1610Ser) c.1048G>T (p.Ala350Ser) c.4843G>T (p.Ala1615Ser) c.4825G>T (p.Ala1609Ser) c.1180G>T (p.Ala394Ser) c.4846G>T (p.Ala1616Ser) c.4954G>T (p.Ala1652Ser) n.11312G>T n.11303G>T | dbSNP |
10 | g.53806782C= | CA1910756228 | PCDH15 | c.3879G= c.5020G= (p.Ala1674=) c.4831G= (p.Ala1611=) c.4828G= (p.Ala1610=) c.1048G= (p.Ala350=) c.4843G= (p.Ala1615=) c.4825G= (p.Ala1609=) c.1180G= (p.Ala394=) c.4846G= (p.Ala1616=) c.4954G= (p.Ala1652=) n.11312G= n.11303G= | |
10 | g.53806782C>G | CA376516369 | PCDH15 | c.3879G>C c.5020G>C (p.Ala1674Pro) c.4831G>C (p.Ala1611Pro) c.4828G>C (p.Ala1610Pro) c.1048G>C (p.Ala350Pro) c.4843G>C (p.Ala1615Pro) c.4825G>C (p.Ala1609Pro) c.1180G>C (p.Ala394Pro) c.4846G>C (p.Ala1616Pro) c.4954G>C (p.Ala1652Pro) n.11312G>C n.11303G>C | |
10 | g.53806782C>T | CA376516365 | PCDH15 | c.3879G>A c.5020G>A (p.Ala1674Thr) c.4831G>A (p.Ala1611Thr) c.4828G>A (p.Ala1610Thr) c.1048G>A (p.Ala350Thr) c.4843G>A (p.Ala1615Thr) c.4825G>A (p.Ala1609Thr) c.1180G>A (p.Ala394Thr) c.4846G>A (p.Ala1616Thr) c.4954G>A (p.Ala1652Thr) n.11312G>A n.11303G>A | |
10 | g.53806783A>C | CA376516373 | PCDH15 | c.3878T>G c.5019T>G (p.Phe1673Leu) c.4830T>G (p.Phe1610Leu) c.4827T>G (p.Phe1609Leu) c.1047T>G (p.Phe349Leu) c.4842T>G (p.Phe1614Leu) c.4824T>G (p.Phe1608Leu) c.1179T>G (p.Phe393Leu) c.4845T>G (p.Phe1615Leu) c.4953T>G (p.Phe1651Leu) n.11311T>G n.11302T>G | |
10 | g.53806783A>G | CA469545906 | PCDH15 | c.3878T>C c.5019T>C (p.Phe1673=) c.4830T>C (p.Phe1610=) c.4827T>C (p.Phe1609=) c.1047T>C (p.Phe349=) c.4842T>C (p.Phe1614=) c.4824T>C (p.Phe1608=) c.1179T>C (p.Phe393=) c.4845T>C (p.Phe1615=) c.4953T>C (p.Phe1651=) n.11311T>C n.11302T>C | |
10 | g.53806783A>T | CA376516374 | PCDH15 | c.3878T>A c.5019T>A (p.Phe1673Leu) c.4830T>A (p.Phe1610Leu) c.4827T>A (p.Phe1609Leu) c.1047T>A (p.Phe349Leu) c.4842T>A (p.Phe1614Leu) c.4824T>A (p.Phe1608Leu) c.1179T>A (p.Phe393Leu) c.4845T>A (p.Phe1615Leu) c.4953T>A (p.Phe1651Leu) n.11311T>A n.11302T>A | |
10 | g.53806783_53806795dup | CA5504541 | PCDH15 | c.3866_3878dup c.5007_5019dup (p.Ala1674SerfsTer12) c.4818_4830dup (p.Ala1611SerfsTer12) c.4815_4827dup (p.Ala1610SerfsTer12) c.1035_1047dup (p.Ala350SerfsTer12) c.4830_4842dup (p.Ala1615SerfsTer12) c.4812_4824dup (p.Ala1609SerfsTer12) c.1167_1179dup (p.Ala394SerfsTer12) c.4833_4845dup (p.Ala1616SerfsTer12) c.4941_4953dup (p.Ala1652SerfsTer12) n.11299_11311dup n.11290_11302dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806784A= | CA1910756230 | PCDH15 | c.3877T= c.5018T= (p.Phe1673=) c.4829T= (p.Phe1610=) c.4826T= (p.Phe1609=) c.1046T= (p.Phe349=) c.4841T= (p.Phe1614=) c.4823T= (p.Phe1608=) c.1178T= (p.Phe393=) c.4844T= (p.Phe1615=) c.4952T= (p.Phe1651=) n.11310T= n.11301T= | |
10 | g.53806784A>C | CA376516375 | PCDH15 | c.3877T>G c.5018T>G (p.Phe1673Cys) c.4829T>G (p.Phe1610Cys) c.4826T>G (p.Phe1609Cys) c.1046T>G (p.Phe349Cys) c.4841T>G (p.Phe1614Cys) c.4823T>G (p.Phe1608Cys) c.1178T>G (p.Phe393Cys) c.4844T>G (p.Phe1615Cys) c.4952T>G (p.Phe1651Cys) n.11310T>G n.11301T>G | |
10 | g.53806784A>G | CA376516376 | PCDH15 | c.3877T>C c.5018T>C (p.Phe1673Ser) c.4829T>C (p.Phe1610Ser) c.4826T>C (p.Phe1609Ser) c.1046T>C (p.Phe349Ser) c.4841T>C (p.Phe1614Ser) c.4823T>C (p.Phe1608Ser) c.1178T>C (p.Phe393Ser) c.4844T>C (p.Phe1615Ser) c.4952T>C (p.Phe1651Ser) n.11310T>C n.11301T>C | dbSNP |
10 | g.53806784A>T | CA376516378 | PCDH15 | c.3877T>A c.5018T>A (p.Phe1673Tyr) c.4829T>A (p.Phe1610Tyr) c.4826T>A (p.Phe1609Tyr) c.1046T>A (p.Phe349Tyr) c.4841T>A (p.Phe1614Tyr) c.4823T>A (p.Phe1608Tyr) c.1178T>A (p.Phe393Tyr) c.4844T>A (p.Phe1615Tyr) c.4952T>A (p.Phe1651Tyr) n.11310T>A n.11301T>A | |
10 | g.53806785A>C | CA376516379 | PCDH15 | c.3876T>G c.5017T>G (p.Phe1673Val) c.4828T>G (p.Phe1610Val) c.4825T>G (p.Phe1609Val) c.1045T>G (p.Phe349Val) c.4840T>G (p.Phe1614Val) c.4822T>G (p.Phe1608Val) c.1177T>G (p.Phe393Val) c.4843T>G (p.Phe1615Val) c.4951T>G (p.Phe1651Val) n.11309T>G n.11300T>G | |
10 | g.53806785A>G | CA376516381 | PCDH15 | c.3876T>C c.5017T>C (p.Phe1673Leu) c.4828T>C (p.Phe1610Leu) c.4825T>C (p.Phe1609Leu) c.1045T>C (p.Phe349Leu) c.4840T>C (p.Phe1614Leu) c.4822T>C (p.Phe1608Leu) c.1177T>C (p.Phe393Leu) c.4843T>C (p.Phe1615Leu) c.4951T>C (p.Phe1651Leu) n.11309T>C n.11300T>C | gnomAD v4 |
10 | g.53806785A>T | CA376516384 | PCDH15 | c.3876T>A c.5017T>A (p.Phe1673Ile) c.4828T>A (p.Phe1610Ile) c.4825T>A (p.Phe1609Ile) c.1045T>A (p.Phe349Ile) c.4840T>A (p.Phe1614Ile) c.4822T>A (p.Phe1608Ile) c.1177T>A (p.Phe393Ile) c.4843T>A (p.Phe1615Ile) c.4951T>A (p.Phe1651Ile) n.11309T>A n.11300T>A | ClinVar |
10 | g.53806786T>A | CA469545908 | PCDH15 | c.3875A>T c.5016A>T (p.Thr1672=) c.4827A>T (p.Thr1609=) c.4824A>T (p.Thr1608=) c.1044A>T (p.Thr348=) c.4839A>T (p.Thr1613=) c.4821A>T (p.Thr1607=) c.1176A>T (p.Thr392=) c.4842A>T (p.Thr1614=) c.4950A>T (p.Thr1650=) n.11308A>T n.11299A>T | |
10 | g.53806786T>C | CA469545909 | PCDH15 | c.3875A>G c.5016A>G (p.Thr1672=) c.4827A>G (p.Thr1609=) c.4824A>G (p.Thr1608=) c.1044A>G (p.Thr348=) c.4839A>G (p.Thr1613=) c.4821A>G (p.Thr1607=) c.1176A>G (p.Thr392=) c.4842A>G (p.Thr1614=) c.4950A>G (p.Thr1650=) n.11308A>G n.11299A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806786T>G | CA469545907 | PCDH15 | c.3875A>C c.5016A>C (p.Thr1672=) c.4827A>C (p.Thr1609=) c.4824A>C (p.Thr1608=) c.1044A>C (p.Thr348=) c.4839A>C (p.Thr1613=) c.4821A>C (p.Thr1607=) c.1176A>C (p.Thr392=) c.4842A>C (p.Thr1614=) c.4950A>C (p.Thr1650=) n.11308A>C n.11299A>C | dbSNP gnomAD v4 |
10 | g.53806786T= | CA1910756231 | PCDH15 | c.3875A= c.5016A= (p.Thr1672=) c.4827A= (p.Thr1609=) c.4824A= (p.Thr1608=) c.1044A= (p.Thr348=) c.4839A= (p.Thr1613=) c.4821A= (p.Thr1607=) c.1176A= (p.Thr392=) c.4842A= (p.Thr1614=) c.4950A= (p.Thr1650=) n.11308A= n.11299A= | |
10 | g.53806787G>A | CA376516387 | PCDH15 | c.3874C>T c.5015C>T (p.Thr1672Ile) c.4826C>T (p.Thr1609Ile) c.4823C>T (p.Thr1608Ile) c.1043C>T (p.Thr348Ile) c.4838C>T (p.Thr1613Ile) c.4820C>T (p.Thr1607Ile) c.1175C>T (p.Thr392Ile) c.4841C>T (p.Thr1614Ile) c.4949C>T (p.Thr1650Ile) n.11307C>T n.11298C>T | gnomAD v4 |
10 | g.53806787G>C | CA376516389 | PCDH15 | c.3874C>G c.5015C>G (p.Thr1672Arg) c.4826C>G (p.Thr1609Arg) c.4823C>G (p.Thr1608Arg) c.1043C>G (p.Thr348Arg) c.4838C>G (p.Thr1613Arg) c.4820C>G (p.Thr1607Arg) c.1175C>G (p.Thr392Arg) c.4841C>G (p.Thr1614Arg) c.4949C>G (p.Thr1650Arg) n.11307C>G n.11298C>G | |
10 | g.53806787G>T | CA376516392 | PCDH15 | c.3874C>A c.5015C>A (p.Thr1672Lys) c.4826C>A (p.Thr1609Lys) c.4823C>A (p.Thr1608Lys) c.1043C>A (p.Thr348Lys) c.4838C>A (p.Thr1613Lys) c.4820C>A (p.Thr1607Lys) c.1175C>A (p.Thr392Lys) c.4841C>A (p.Thr1614Lys) c.4949C>A (p.Thr1650Lys) n.11307C>A n.11298C>A | |
10 | g.53806788T>A | CA376516402 | PCDH15 | c.3873A>T c.5014A>T (p.Thr1672Ser) c.4825A>T (p.Thr1609Ser) c.4822A>T (p.Thr1608Ser) c.1042A>T (p.Thr348Ser) c.4837A>T (p.Thr1613Ser) c.4819A>T (p.Thr1607Ser) c.1174A>T (p.Thr392Ser) c.4840A>T (p.Thr1614Ser) c.4948A>T (p.Thr1650Ser) n.11306A>T n.11297A>T | |
10 | g.53806788T>C | CA376516400 | PCDH15 | c.3873A>G c.5014A>G (p.Thr1672Ala) c.4825A>G (p.Thr1609Ala) c.4822A>G (p.Thr1608Ala) c.1042A>G (p.Thr348Ala) c.4837A>G (p.Thr1613Ala) c.4819A>G (p.Thr1607Ala) c.1174A>G (p.Thr392Ala) c.4840A>G (p.Thr1614Ala) c.4948A>G (p.Thr1650Ala) n.11306A>G n.11297A>G | gnomAD v4 |
10 | g.53806788T>G | CA376516401 | PCDH15 | c.3873A>C c.5014A>C (p.Thr1672Pro) c.4825A>C (p.Thr1609Pro) c.4822A>C (p.Thr1608Pro) c.1042A>C (p.Thr348Pro) c.4837A>C (p.Thr1613Pro) c.4819A>C (p.Thr1607Pro) c.1174A>C (p.Thr392Pro) c.4840A>C (p.Thr1614Pro) c.4948A>C (p.Thr1650Pro) n.11306A>C n.11297A>C | |
10 | g.53806789A>C | CA469545910 | PCDH15 | c.3872T>G c.5013T>G (p.Val1671=) c.4824T>G (p.Val1608=) c.4821T>G (p.Val1607=) c.1041T>G (p.Val347=) c.4836T>G (p.Val1612=) c.4818T>G (p.Val1606=) c.1173T>G (p.Val391=) c.4839T>G (p.Val1613=) c.4947T>G (p.Val1649=) n.11305T>G n.11296T>G | gnomAD v4 |
10 | g.53806789A>G | CA469545911 | PCDH15 | c.3872T>C c.5013T>C (p.Val1671=) c.4824T>C (p.Val1608=) c.4821T>C (p.Val1607=) c.1041T>C (p.Val347=) c.4836T>C (p.Val1612=) c.4818T>C (p.Val1606=) c.1173T>C (p.Val391=) c.4839T>C (p.Val1613=) c.4947T>C (p.Val1649=) n.11305T>C n.11296T>C | |
10 | g.53806789A>T | CA469545912 | PCDH15 | c.3872T>A c.5013T>A (p.Val1671=) c.4824T>A (p.Val1608=) c.4821T>A (p.Val1607=) c.1041T>A (p.Val347=) c.4836T>A (p.Val1612=) c.4818T>A (p.Val1606=) c.1173T>A (p.Val391=) c.4839T>A (p.Val1613=) c.4947T>A (p.Val1649=) n.11305T>A n.11296T>A | |
10 | g.53806790A>C | CA376516403 | PCDH15 | c.3871T>G c.5012T>G (p.Val1671Gly) c.4823T>G (p.Val1608Gly) c.4820T>G (p.Val1607Gly) c.1040T>G (p.Val347Gly) c.4835T>G (p.Val1612Gly) c.4817T>G (p.Val1606Gly) c.1172T>G (p.Val391Gly) c.4838T>G (p.Val1613Gly) c.4946T>G (p.Val1649Gly) n.11304T>G n.11295T>G | |
10 | g.53806790A>G | CA376516404 | PCDH15 | c.3871T>C c.5012T>C (p.Val1671Ala) c.4823T>C (p.Val1608Ala) c.4820T>C (p.Val1607Ala) c.1040T>C (p.Val347Ala) c.4835T>C (p.Val1612Ala) c.4817T>C (p.Val1606Ala) c.1172T>C (p.Val391Ala) c.4838T>C (p.Val1613Ala) c.4946T>C (p.Val1649Ala) n.11304T>C n.11295T>C | |
10 | g.53806790A>T | CA376516405 | PCDH15 | c.3871T>A c.5012T>A (p.Val1671Asp) c.4823T>A (p.Val1608Asp) c.4820T>A (p.Val1607Asp) c.1040T>A (p.Val347Asp) c.4835T>A (p.Val1612Asp) c.4817T>A (p.Val1606Asp) c.1172T>A (p.Val391Asp) c.4838T>A (p.Val1613Asp) c.4946T>A (p.Val1649Asp) n.11304T>A n.11295T>A | |
10 | g.53806791C>A | CA376516409 | PCDH15 | c.3870G>T c.5011G>T (p.Val1671Phe) c.4822G>T (p.Val1608Phe) c.4819G>T (p.Val1607Phe) c.1039G>T (p.Val347Phe) c.4834G>T (p.Val1612Phe) c.4816G>T (p.Val1606Phe) c.1171G>T (p.Val391Phe) c.4837G>T (p.Val1613Phe) c.4945G>T (p.Val1649Phe) n.11303G>T n.11294G>T | |
10 | g.53806791C= | CA1910756233 | PCDH15 | c.3870G= c.5011G= (p.Val1671=) c.4822G= (p.Val1608=) c.4819G= (p.Val1607=) c.1039G= (p.Val347=) c.4834G= (p.Val1612=) c.4816G= (p.Val1606=) c.1171G= (p.Val391=) c.4837G= (p.Val1613=) c.4945G= (p.Val1649=) n.11303G= n.11294G= | |
10 | g.53806791C>G | CA376516412 | PCDH15 | c.3870G>C c.5011G>C (p.Val1671Leu) c.4822G>C (p.Val1608Leu) c.4819G>C (p.Val1607Leu) c.1039G>C (p.Val347Leu) c.4834G>C (p.Val1612Leu) c.4816G>C (p.Val1606Leu) c.1171G>C (p.Val391Leu) c.4837G>C (p.Val1613Leu) c.4945G>C (p.Val1649Leu) n.11303G>C n.11294G>C | |
10 | g.53806791C>T | CA5504542 | PCDH15 | c.3870G>A c.5011G>A (p.Val1671Ile) c.4822G>A (p.Val1608Ile) c.4819G>A (p.Val1607Ile) c.1039G>A (p.Val347Ile) c.4834G>A (p.Val1612Ile) c.4816G>A (p.Val1606Ile) c.1171G>A (p.Val391Ile) c.4837G>A (p.Val1613Ile) c.4945G>A (p.Val1649Ile) n.11303G>A n.11294G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806792C>A | CA469545913 | PCDH15 | c.3869G>T c.5010G>T (p.Leu1670=) c.4821G>T (p.Leu1607=) c.4818G>T (p.Leu1606=) c.1038G>T (p.Leu346=) c.4833G>T (p.Leu1611=) c.4815G>T (p.Leu1605=) c.1170G>T (p.Leu390=) c.4836G>T (p.Leu1612=) c.4944G>T (p.Leu1648=) n.11302G>T n.11293G>T | gnomAD v4 |
10 | g.53806792C= | CA1910756237 | PCDH15 | c.3869G= c.5010G= (p.Leu1670=) c.4821G= (p.Leu1607=) c.4818G= (p.Leu1606=) c.1038G= (p.Leu346=) c.4833G= (p.Leu1611=) c.4815G= (p.Leu1605=) c.1170G= (p.Leu390=) c.4836G= (p.Leu1612=) c.4944G= (p.Leu1648=) n.11302G= n.11293G= | |
10 | g.53806792C>G | CA469545914 | PCDH15 | c.3869G>C c.5010G>C (p.Leu1670=) c.4821G>C (p.Leu1607=) c.4818G>C (p.Leu1606=) c.1038G>C (p.Leu346=) c.4833G>C (p.Leu1611=) c.4815G>C (p.Leu1605=) c.1170G>C (p.Leu390=) c.4836G>C (p.Leu1612=) c.4944G>C (p.Leu1648=) n.11302G>C n.11293G>C | |
10 | g.53806792C>T | CA5504543 | PCDH15 | c.3869G>A c.5010G>A (p.Leu1670=) c.4821G>A (p.Leu1607=) c.4818G>A (p.Leu1606=) c.1038G>A (p.Leu346=) c.4833G>A (p.Leu1611=) c.4815G>A (p.Leu1605=) c.1170G>A (p.Leu390=) c.4836G>A (p.Leu1612=) c.4944G>A (p.Leu1648=) n.11302G>A n.11293G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806793A= | CA1910756238 | PCDH15 | c.3868T= c.5009T= (p.Leu1670=) c.4820T= (p.Leu1607=) c.4817T= (p.Leu1606=) c.1037T= (p.Leu346=) c.4832T= (p.Leu1611=) c.4814T= (p.Leu1605=) c.1169T= (p.Leu390=) c.4835T= (p.Leu1612=) c.4943T= (p.Leu1648=) n.11301T= n.11292T= | |
10 | g.53806793A>C | CA376516420 | PCDH15 | c.3868T>G c.5009T>G (p.Leu1670Arg) c.4820T>G (p.Leu1607Arg) c.4817T>G (p.Leu1606Arg) c.1037T>G (p.Leu346Arg) c.4832T>G (p.Leu1611Arg) c.4814T>G (p.Leu1605Arg) c.1169T>G (p.Leu390Arg) c.4835T>G (p.Leu1612Arg) c.4943T>G (p.Leu1648Arg) n.11301T>G n.11292T>G | |
10 | g.53806793A>G | CA376516422 | PCDH15 | c.3868T>C c.5009T>C (p.Leu1670Pro) c.4820T>C (p.Leu1607Pro) c.4817T>C (p.Leu1606Pro) c.1037T>C (p.Leu346Pro) c.4832T>C (p.Leu1611Pro) c.4814T>C (p.Leu1605Pro) c.1169T>C (p.Leu390Pro) c.4835T>C (p.Leu1612Pro) c.4943T>C (p.Leu1648Pro) n.11301T>C n.11292T>C | gnomAD v4 |
10 | g.53806793A>T | CA376516425 | PCDH15 | c.3868T>A c.5009T>A (p.Leu1670Gln) c.4820T>A (p.Leu1607Gln) c.4817T>A (p.Leu1606Gln) c.1037T>A (p.Leu346Gln) c.4832T>A (p.Leu1611Gln) c.4814T>A (p.Leu1605Gln) c.1169T>A (p.Leu390Gln) c.4835T>A (p.Leu1612Gln) c.4943T>A (p.Leu1648Gln) n.11301T>A n.11292T>A | |
10 | g.53806794G>A | CA5504547 | PCDH15 | c.3867C>T c.5008C>T (p.Leu1670=) c.4819C>T (p.Leu1607=) c.4816C>T (p.Leu1606=) c.1036C>T (p.Leu346=) c.4831C>T (p.Leu1611=) c.4813C>T (p.Leu1605=) c.1168C>T (p.Leu390=) c.4834C>T (p.Leu1612=) c.4942C>T (p.Leu1648=) n.11300C>T n.11291C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806794G>C | CA5504546 | PCDH15 | c.3867C>G c.5008C>G (p.Leu1670Val) c.4819C>G (p.Leu1607Val) c.4816C>G (p.Leu1606Val) c.1036C>G (p.Leu346Val) c.4831C>G (p.Leu1611Val) c.4813C>G (p.Leu1605Val) c.1168C>G (p.Leu390Val) c.4834C>G (p.Leu1612Val) c.4942C>G (p.Leu1648Val) n.11300C>G n.11291C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.53806794G= | CA1910756242 | PCDH15 | c.3867C= c.5008C= (p.Leu1670=) c.4819C= (p.Leu1607=) c.4816C= (p.Leu1606=) c.1036C= (p.Leu346=) c.4831C= (p.Leu1611=) c.4813C= (p.Leu1605=) c.1168C= (p.Leu390=) c.4834C= (p.Leu1612=) c.4942C= (p.Leu1648=) n.11300C= n.11291C= | |
10 | g.53806794G>T | CA376516431 | PCDH15 | c.3867C>A c.5008C>A (p.Leu1670Met) c.4819C>A (p.Leu1607Met) c.4816C>A (p.Leu1606Met) c.1036C>A (p.Leu346Met) c.4831C>A (p.Leu1611Met) c.4813C>A (p.Leu1605Met) c.1168C>A (p.Leu390Met) c.4834C>A (p.Leu1612Met) c.4942C>A (p.Leu1648Met) n.11300C>A n.11291C>A | |
10 | g.53806794_53806797dup | CA5504544 | PCDH15 | c.3864_3867dup c.5005_5008dup (p.Leu1670HisfsTer13) c.4816_4819dup (p.Leu1607HisfsTer13) c.4813_4816dup (p.Leu1606HisfsTer13) c.1033_1036dup (p.Leu346HisfsTer13) c.4828_4831dup (p.Leu1611HisfsTer13) c.4810_4813dup (p.Leu1605HisfsTer13) c.1165_1168dup (p.Leu390HisfsTer13) c.4831_4834dup (p.Leu1612HisfsTer13) c.4939_4942dup (p.Leu1648HisfsTer13) n.11297_11300dup n.11288_11291dup | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.53806795_53806799dup | CA5504545 | PCDH15 | c.3863_3867dup c.5004_5008dup (p.Leu1670GlnfsTer18) c.4815_4819dup (p.Leu1607GlnfsTer18) c.4812_4816dup (p.Leu1606GlnfsTer18) c.1032_1036dup (p.Leu346GlnfsTer18) c.4827_4831dup (p.Leu1611GlnfsTer18) c.4809_4813dup (p.Leu1605GlnfsTer18) c.1164_1168dup (p.Leu390GlnfsTer18) c.4830_4834dup (p.Leu1612GlnfsTer18) c.4938_4942dup (p.Leu1648GlnfsTer18) n.11296_11300dup n.11287_11291dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806795A= | CA1910756246 | PCDH15 | c.3866T= c.5007T= (p.Thr1669=) c.4818T= (p.Thr1606=) c.4815T= (p.Thr1605=) c.1035T= (p.Thr345=) c.4830T= (p.Thr1610=) c.4812T= (p.Thr1604=) c.1167T= (p.Thr389=) c.4833T= (p.Thr1611=) c.4941T= (p.Thr1647=) n.11299T= n.11290T= | |
10 | g.53806795A>C | CA469545916 | PCDH15 | c.3866T>G c.5007T>G (p.Thr1669=) c.4818T>G (p.Thr1606=) c.4815T>G (p.Thr1605=) c.1035T>G (p.Thr345=) c.4830T>G (p.Thr1610=) c.4812T>G (p.Thr1604=) c.1167T>G (p.Thr389=) c.4833T>G (p.Thr1611=) c.4941T>G (p.Thr1647=) n.11299T>G n.11290T>G | gnomAD v4 |
10 | g.53806795A>G | CA469545917 | PCDH15 | c.3866T>C c.5007T>C (p.Thr1669=) c.4818T>C (p.Thr1606=) c.4815T>C (p.Thr1605=) c.1035T>C (p.Thr345=) c.4830T>C (p.Thr1610=) c.4812T>C (p.Thr1604=) c.1167T>C (p.Thr389=) c.4833T>C (p.Thr1611=) c.4941T>C (p.Thr1647=) n.11299T>C n.11290T>C | |
10 | g.53806795A>T | CA469545915 | PCDH15 | c.3866T>A c.5007T>A (p.Thr1669=) c.4818T>A (p.Thr1606=) c.4815T>A (p.Thr1605=) c.1035T>A (p.Thr345=) c.4830T>A (p.Thr1610=) c.4812T>A (p.Thr1604=) c.1167T>A (p.Thr389=) c.4833T>A (p.Thr1611=) c.4941T>A (p.Thr1647=) n.11299T>A n.11290T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806796G>A | CA376516441 | PCDH15 | c.3865C>T c.5006C>T (p.Thr1669Ile) c.4817C>T (p.Thr1606Ile) c.4814C>T (p.Thr1605Ile) c.1034C>T (p.Thr345Ile) c.4829C>T (p.Thr1610Ile) c.4811C>T (p.Thr1604Ile) c.1166C>T (p.Thr389Ile) c.4832C>T (p.Thr1611Ile) c.4940C>T (p.Thr1647Ile) n.11298C>T n.11289C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.53806796G>C | CA376516440 | PCDH15 | c.3865C>G c.5006C>G (p.Thr1669Ser) c.4817C>G (p.Thr1606Ser) c.4814C>G (p.Thr1605Ser) c.1034C>G (p.Thr345Ser) c.4829C>G (p.Thr1610Ser) c.4811C>G (p.Thr1604Ser) c.1166C>G (p.Thr389Ser) c.4832C>G (p.Thr1611Ser) c.4940C>G (p.Thr1647Ser) n.11298C>G n.11289C>G | |
10 | g.53806796G= | CA1910756249 | PCDH15 | c.3865C= c.5006C= (p.Thr1669=) c.4817C= (p.Thr1606=) c.4814C= (p.Thr1605=) c.1034C= (p.Thr345=) c.4829C= (p.Thr1610=) c.4811C= (p.Thr1604=) c.1166C= (p.Thr389=) c.4832C= (p.Thr1611=) c.4940C= (p.Thr1647=) n.11298C= n.11289C= | |
10 | g.53806796G>T | CA376516442 | PCDH15 | c.3865C>A c.5006C>A (p.Thr1669Asn) c.4817C>A (p.Thr1606Asn) c.4814C>A (p.Thr1605Asn) c.1034C>A (p.Thr345Asn) c.4829C>A (p.Thr1610Asn) c.4811C>A (p.Thr1604Asn) c.1166C>A (p.Thr389Asn) c.4832C>A (p.Thr1611Asn) c.4940C>A (p.Thr1647Asn) n.11298C>A n.11289C>A | |
10 | g.53806797_53806799dup | CA1910756248 | PCDH15 | c.3863_3865dup c.5004_5006dup (p.Thr1669_Leu1670insThr) c.4815_4817dup (p.Thr1606_Leu1607insThr) c.4812_4814dup (p.Thr1605_Leu1606insThr) c.1032_1034dup (p.Thr345_Leu346insThr) c.4827_4829dup (p.Thr1610_Leu1611insThr) c.4809_4811dup (p.Thr1604_Leu1605insThr) c.1164_1166dup (p.Thr389_Leu390insThr) c.4830_4832dup (p.Thr1611_Leu1612insThr) c.4938_4940dup (p.Thr1647_Leu1648insThr) n.11296_11298dup n.11287_11289dup | dbSNP |
10 | g.53806797T>A | CA376516443 | PCDH15 | c.3864A>T c.5005A>T (p.Thr1669Ser) c.4816A>T (p.Thr1606Ser) c.4813A>T (p.Thr1605Ser) c.1033A>T (p.Thr345Ser) c.4828A>T (p.Thr1610Ser) c.4810A>T (p.Thr1604Ser) c.1165A>T (p.Thr389Ser) c.4831A>T (p.Thr1611Ser) c.4939A>T (p.Thr1647Ser) n.11297A>T n.11288A>T | |
10 | g.53806797T>C | CA5504548 | PCDH15 | c.3864A>G c.5005A>G (p.Thr1669Ala) c.4816A>G (p.Thr1606Ala) c.4813A>G (p.Thr1605Ala) c.1033A>G (p.Thr345Ala) c.4828A>G (p.Thr1610Ala) c.4810A>G (p.Thr1604Ala) c.1165A>G (p.Thr389Ala) c.4831A>G (p.Thr1611Ala) c.4939A>G (p.Thr1647Ala) n.11297A>G n.11288A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806797T>G | CA376516446 | PCDH15 | c.3864A>C c.5005A>C (p.Thr1669Pro) c.4816A>C (p.Thr1606Pro) c.4813A>C (p.Thr1605Pro) c.1033A>C (p.Thr345Pro) c.4828A>C (p.Thr1610Pro) c.4810A>C (p.Thr1604Pro) c.1165A>C (p.Thr389Pro) c.4831A>C (p.Thr1611Pro) c.4939A>C (p.Thr1647Pro) n.11297A>C n.11288A>C | |
10 | g.53806797T= | CA1910756252 | PCDH15 | c.3864A= c.5005A= (p.Thr1669=) c.4816A= (p.Thr1606=) c.4813A= (p.Thr1605=) c.1033A= (p.Thr345=) c.4828A= (p.Thr1610=) c.4810A= (p.Thr1604=) c.1165A= (p.Thr389=) c.4831A= (p.Thr1611=) c.4939A= (p.Thr1647=) n.11297A= n.11288A= | |
10 | g.53806798T>A | CA469545918 | PCDH15 | c.3863A>T c.5004A>T (p.Pro1668=) c.4815A>T (p.Pro1605=) c.4812A>T (p.Pro1604=) c.1032A>T (p.Pro344=) c.4827A>T (p.Pro1609=) c.4809A>T (p.Pro1603=) c.1164A>T (p.Pro388=) c.4830A>T (p.Pro1610=) c.4938A>T (p.Pro1646=) n.11296A>T n.11287A>T | |
10 | g.53806798T>C | CA469545919 | PCDH15 | c.3863A>G c.5004A>G (p.Pro1668=) c.4815A>G (p.Pro1605=) c.4812A>G (p.Pro1604=) c.1032A>G (p.Pro344=) c.4827A>G (p.Pro1609=) c.4809A>G (p.Pro1603=) c.1164A>G (p.Pro388=) c.4830A>G (p.Pro1610=) c.4938A>G (p.Pro1646=) n.11296A>G n.11287A>G | |
10 | g.53806798T>G | CA469545920 | PCDH15 | c.3863A>C c.5004A>C (p.Pro1668=) c.4815A>C (p.Pro1605=) c.4812A>C (p.Pro1604=) c.1032A>C (p.Pro344=) c.4827A>C (p.Pro1609=) c.4809A>C (p.Pro1603=) c.1164A>C (p.Pro388=) c.4830A>C (p.Pro1610=) c.4938A>C (p.Pro1646=) n.11296A>C n.11287A>C | |
10 | g.53806799G>A | CA5504549 | PCDH15 | c.3862C>T c.5003C>T (p.Pro1668Leu) c.4814C>T (p.Pro1605Leu) c.4811C>T (p.Pro1604Leu) c.1031C>T (p.Pro344Leu) c.4826C>T (p.Pro1609Leu) c.4808C>T (p.Pro1603Leu) c.1163C>T (p.Pro388Leu) c.4829C>T (p.Pro1610Leu) c.4937C>T (p.Pro1646Leu) n.11295C>T n.11286C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.53806799G>C | CA376516448 | PCDH15 | c.3862C>G c.5003C>G (p.Pro1668Arg) c.4814C>G (p.Pro1605Arg) c.4811C>G (p.Pro1604Arg) c.1031C>G (p.Pro344Arg) c.4826C>G (p.Pro1609Arg) c.4808C>G (p.Pro1603Arg) c.1163C>G (p.Pro388Arg) c.4829C>G (p.Pro1610Arg) c.4937C>G (p.Pro1646Arg) n.11295C>G n.11286C>G | |
10 | g.53806799G= | CA1910756255 | PCDH15 | c.3862C= c.5003C= (p.Pro1668=) c.4814C= (p.Pro1605=) c.4811C= (p.Pro1604=) c.1031C= (p.Pro344=) c.4826C= (p.Pro1609=) c.4808C= (p.Pro1603=) c.1163C= (p.Pro388=) c.4829C= (p.Pro1610=) c.4937C= (p.Pro1646=) n.11295C= n.11286C= | |
10 | g.53806799G>T | CA376516450 | PCDH15 | c.3862C>A c.5003C>A (p.Pro1668Gln) c.4814C>A (p.Pro1605Gln) c.4811C>A (p.Pro1604Gln) c.1031C>A (p.Pro344Gln) c.4826C>A (p.Pro1609Gln) c.4808C>A (p.Pro1603Gln) c.1163C>A (p.Pro388Gln) c.4829C>A (p.Pro1610Gln) c.4937C>A (p.Pro1646Gln) n.11295C>A n.11286C>A | |
10 | g.53806800G>A | CA376516452 | PCDH15 | c.3861C>T c.5002C>T (p.Pro1668Ser) c.4813C>T (p.Pro1605Ser) c.4810C>T (p.Pro1604Ser) c.1030C>T (p.Pro344Ser) c.4825C>T (p.Pro1609Ser) c.4807C>T (p.Pro1603Ser) c.1162C>T (p.Pro388Ser) c.4828C>T (p.Pro1610Ser) c.4936C>T (p.Pro1646Ser) n.11294C>T n.11285C>T | |
10 | g.53806800G>C | CA376516453 | PCDH15 | c.3861C>G c.5002C>G (p.Pro1668Ala) c.4813C>G (p.Pro1605Ala) c.4810C>G (p.Pro1604Ala) c.1030C>G (p.Pro344Ala) c.4825C>G (p.Pro1609Ala) c.4807C>G (p.Pro1603Ala) c.1162C>G (p.Pro388Ala) c.4828C>G (p.Pro1610Ala) c.4936C>G (p.Pro1646Ala) n.11294C>G n.11285C>G | |
10 | g.53806800G= | CA1910756259 | PCDH15 | c.3861C= c.5002C= (p.Pro1668=) c.4813C= (p.Pro1605=) c.4810C= (p.Pro1604=) c.1030C= (p.Pro344=) c.4825C= (p.Pro1609=) c.4807C= (p.Pro1603=) c.1162C= (p.Pro388=) c.4828C= (p.Pro1610=) c.4936C= (p.Pro1646=) n.11294C= n.11285C= | |
10 | g.53806800G>T | CA376516454 | PCDH15 | c.3861C>A c.5002C>A (p.Pro1668Thr) c.4813C>A (p.Pro1605Thr) c.4810C>A (p.Pro1604Thr) c.1030C>A (p.Pro344Thr) c.4825C>A (p.Pro1609Thr) c.4807C>A (p.Pro1603Thr) c.1162C>A (p.Pro388Thr) c.4828C>A (p.Pro1610Thr) c.4936C>A (p.Pro1646Thr) n.11294C>A n.11285C>A | |
10 | g.53806801T>A | CA376516456 | PCDH15 | c.3860A>T c.5001A>T (p.Arg1667Ser) c.4812A>T (p.Arg1604Ser) c.4809A>T (p.Arg1603Ser) c.1029A>T (p.Arg343Ser) c.4824A>T (p.Arg1608Ser) c.4806A>T (p.Arg1602Ser) c.1161A>T (p.Arg387Ser) c.4827A>T (p.Arg1609Ser) c.4935A>T (p.Arg1645Ser) n.11293A>T n.11284A>T | |
10 | g.53806801T>C | CA469545921 | PCDH15 | c.3860A>G c.5001A>G (p.Arg1667=) c.4812A>G (p.Arg1604=) c.4809A>G (p.Arg1603=) c.1029A>G (p.Arg343=) c.4824A>G (p.Arg1608=) c.4806A>G (p.Arg1602=) c.1161A>G (p.Arg387=) c.4827A>G (p.Arg1609=) c.4935A>G (p.Arg1645=) n.11293A>G n.11284A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.53806801T>G | CA376516457 | PCDH15 | c.3860A>C c.5001A>C (p.Arg1667Ser) c.4812A>C (p.Arg1604Ser) c.4809A>C (p.Arg1603Ser) c.1029A>C (p.Arg343Ser) c.4824A>C (p.Arg1608Ser) c.4806A>C (p.Arg1602Ser) c.1161A>C (p.Arg387Ser) c.4827A>C (p.Arg1609Ser) c.4935A>C (p.Arg1645Ser) n.11293A>C n.11284A>C | dbSNP |
10 | g.53806801T= | CA1910756263 | PCDH15 | c.3860A= c.5001A= (p.Arg1667=) c.4812A= (p.Arg1604=) c.4809A= (p.Arg1603=) c.1029A= (p.Arg343=) c.4824A= (p.Arg1608=) c.4806A= (p.Arg1602=) c.1161A= (p.Arg387=) c.4827A= (p.Arg1609=) c.4935A= (p.Arg1645=) n.11293A= n.11284A= | |
10 | g.53806801_53806804dup | CA918676862 | PCDH15 | c.3857_3860dup c.4998_5001dup (p.Pro1668LysfsTer15) c.4809_4812dup (p.Pro1605LysfsTer15) c.4806_4809dup (p.Pro1604LysfsTer15) c.1026_1029dup (p.Pro344LysfsTer15) c.4821_4824dup (p.Pro1609LysfsTer15) c.4803_4806dup (p.Pro1603LysfsTer15) c.1158_1161dup (p.Pro388LysfsTer15) c.4824_4827dup (p.Pro1610LysfsTer15) c.4932_4935dup (p.Pro1646LysfsTer15) n.11290_11293dup n.11281_11284dup | dbSNP |
10 | g.53806802C>A | CA376516465 | PCDH15 | c.3859G>T c.5000G>T (p.Arg1667Ile) c.4811G>T (p.Arg1604Ile) c.4808G>T (p.Arg1603Ile) c.1028G>T (p.Arg343Ile) c.4823G>T (p.Arg1608Ile) c.4805G>T (p.Arg1602Ile) c.1160G>T (p.Arg387Ile) c.4826G>T (p.Arg1609Ile) c.4934G>T (p.Arg1645Ile) n.11292G>T n.11283G>T | COSMIC |
10 | g.53806802C>G | CA376516459 | PCDH15 | c.3859G>C c.5000G>C (p.Arg1667Thr) c.4811G>C (p.Arg1604Thr) c.4808G>C (p.Arg1603Thr) c.1028G>C (p.Arg343Thr) c.4823G>C (p.Arg1608Thr) c.4805G>C (p.Arg1602Thr) c.1160G>C (p.Arg387Thr) c.4826G>C (p.Arg1609Thr) c.4934G>C (p.Arg1645Thr) n.11292G>C n.11283G>C | |
10 | g.53806802C>T | CA376516463 | PCDH15 | c.3859G>A c.5000G>A (p.Arg1667Lys) c.4811G>A (p.Arg1604Lys) c.4808G>A (p.Arg1603Lys) c.1028G>A (p.Arg343Lys) c.4823G>A (p.Arg1608Lys) c.4805G>A (p.Arg1602Lys) c.1160G>A (p.Arg387Lys) c.4826G>A (p.Arg1609Lys) c.4934G>A (p.Arg1645Lys) n.11292G>A n.11283G>A | |
10 | g.53806803T>A | CA376516467 | PCDH15 | c.3858A>T c.4999A>T (p.Arg1667Ter) c.4810A>T (p.Arg1604Ter) c.4807A>T (p.Arg1603Ter) c.1027A>T (p.Arg343Ter) c.4822A>T (p.Arg1608Ter) c.4804A>T (p.Arg1602Ter) c.1159A>T (p.Arg387Ter) c.4825A>T (p.Arg1609Ter) c.4933A>T (p.Arg1645Ter) n.11291A>T n.11282A>T | |
10 | g.53806803T>C | CA376516469 | PCDH15 | c.3858A>G c.4999A>G (p.Arg1667Gly) c.4810A>G (p.Arg1604Gly) c.4807A>G (p.Arg1603Gly) c.1027A>G (p.Arg343Gly) c.4822A>G (p.Arg1608Gly) c.4804A>G (p.Arg1602Gly) c.1159A>G (p.Arg387Gly) c.4825A>G (p.Arg1609Gly) c.4933A>G (p.Arg1645Gly) n.11291A>G n.11282A>G | gnomAD v4 |
10 | g.53806803T>G | CA469545922 | PCDH15 | c.3858A>C c.4999A>C (p.Arg1667=) c.4810A>C (p.Arg1604=) c.4807A>C (p.Arg1603=) c.1027A>C (p.Arg343=) c.4822A>C (p.Arg1608=) c.4804A>C (p.Arg1602=) c.1159A>C (p.Arg387=) c.4825A>C (p.Arg1609=) c.4933A>C (p.Arg1645=) n.11291A>C n.11282A>C |