Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407461_100407467del | CA2565267703 | PCDH19 | c.1135_1141del (p.Gly379MetfsTer?) | |
X | g.100407462_100407465dup | CA2695234717 | PCDH19 | c.1134_1137dup (p.Leu380ArgfsTer22) | ClinVar |
X | g.100407463_100407464delinsCT | CA2447976728 | PCDH19 | c.1134_1135delinsAG (p.Ser378=) | |
X | g.100407464del | CA316403 | PCDH19 | c.1134del (p.Gly379AlafsTer?) | ClinVar dbSNP |
X | g.100407464T>A | CA517748114 | PCDH19 | c.1134A>T (p.Ser378=) | |
X | g.100407464T>C | CA517748113 | PCDH19 | c.1134A>G (p.Ser378=) | |
X | g.100407464T>G | CA517748110 | PCDH19 | c.1134A>C (p.Ser378=) | |
X | g.100407465G>A | CA414004054 | PCDH19 | c.1133C>T (p.Ser378Leu) | |
X | g.100407465G>C | CA414004055 | PCDH19 | c.1133C>G (p.Ser378Ter) | ClinVar dbSNP |
X | g.100407465G= | CA2447976729 | PCDH19 | c.1133C= (p.Ser378=) | |
X | g.100407465G>T | CA414004063 | PCDH19 | c.1133C>A (p.Ser378Ter) | |
X | g.100407466A>C | CA414004066 | PCDH19 | c.1132T>G (p.Ser378Ala) | COSMIC |
X | g.100407466A>G | CA414004069 | PCDH19 | c.1132T>C (p.Ser378Pro) | COSMIC |
X | g.100407466A>T | CA414004071 | PCDH19 | c.1132T>A (p.Ser378Thr) | |
X | g.100407467G>A | CA517748118 | PCDH19 | c.1131C>T (p.Asp377=) | gnomAD v4 |
X | g.100407467G>C | CA414004074 | PCDH19 | c.1131C>G (p.Asp377Glu) | |
X | g.100407467G>T | CA414004073 | PCDH19 | c.1131C>A (p.Asp377Glu) | |
X | g.100407468T>A | CA414004075 | PCDH19 | c.1130A>T (p.Asp377Val) | ClinVar dbSNP |
X | g.100407468T>C | CA414004076 | PCDH19 | c.1130A>G (p.Asp377Gly) | COSMIC |
X | g.100407468T>G | CA414004078 | PCDH19 | c.1130A>C (p.Asp377Ala) | |
X | g.100407468T= | CA2447976730 | PCDH19 | c.1130A= (p.Asp377=) | |
X | g.100407469C>A | CA414004079 | PCDH19 | c.1129G>T (p.Asp377Tyr) | |
X | g.100407469C= | CA2447976731 | PCDH19 | c.1129G= (p.Asp377=) | |
X | g.100407469C>G | CA414004080 | PCDH19 | c.1129G>C (p.Asp377His) | ClinVar dbSNP |
X | g.100407469C>T | CA414004082 | PCDH19 | c.1129G>A (p.Asp377Asn) | ClinVar |
X | g.100407470G>A | CA517748123 | PCDH19 | c.1128C>T (p.Arg376=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100407470G>C | CA517748126 | PCDH19 | c.1128C>G (p.Arg376=) | |
X | g.100407470G= | CA2447976732 | PCDH19 | c.1128C= (p.Arg376=) | |
X | g.100407470G>T | CA517748124 | PCDH19 | c.1128C>A (p.Arg376=) | |
X | g.100407471C>A | CA414004086 | PCDH19 | c.1127G>T (p.Arg376Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100407471C= | CA2447976733 | PCDH19 | c.1127G= (p.Arg376=) | |
X | g.100407471C>G | CA414004089 | PCDH19 | c.1127G>C (p.Arg376Pro) | |
X | g.100407471C>T | CA414004092 | PCDH19 | c.1127G>A (p.Arg376His) | gnomAD v4 COSMIC |
X | g.100407472G>A | CA414004095 | PCDH19 | c.1126C>T (p.Arg376Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.100407472G>C | CA414004097 | PCDH19 | c.1126C>G (p.Arg376Gly) | dbSNP |
X | g.100407472G= | CA2447976734 | PCDH19 | c.1126C= (p.Arg376=) | |
X | g.100407472G>T | CA414004099 | PCDH19 | c.1126C>A (p.Arg376Ser) | |
X | g.100407473A>C | CA414004104 | PCDH19 | c.1125T>G (p.Asp375Glu) | |
X | g.100407473A>G | CA517748133 | PCDH19 | c.1125T>C (p.Asp375=) | |
X | g.100407473A>T | CA414004103 | PCDH19 | c.1125T>A (p.Asp375Glu) | |
X | g.100407474T>A | CA414004107 | PCDH19 | c.1124A>T (p.Asp375Val) | ClinVar dbSNP |
X | g.100407474T>C | CA414004108 | PCDH19 | c.1124A>G (p.Asp375Gly) | ClinVar |
X | g.100407474T>G | CA414004109 | PCDH19 | c.1124A>C (p.Asp375Ala) | |
X | g.100407475C>A | CA414004112 | PCDH19 | c.1123G>T (p.Asp375Tyr) | |
X | g.100407475C= | CA2447976736 | PCDH19 | c.1123G= (p.Asp375=) | |
X | g.100407475C>G | CA414004113 | PCDH19 | c.1123G>C (p.Asp375His) | |
X | g.100407475C>T | CA414004114 | PCDH19 | c.1123G>A (p.Asp375Asn) | ClinVar dbSNP |
X | g.100407475_100407477delinsCAG | CA2447976735 | PCDH19 | c.1121_1123delinsCTG (p.Ser374=) | |
X | g.100407476A>C | CA517748138 | PCDH19 | c.1122T>G (p.Ser374=) | |
X | g.100407476A>G | CA517748139 | PCDH19 | c.1122T>C (p.Ser374=) |