Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100408084_100408108delinsCGTTGGGCGTGAGCTCGTAAGTCTG | CA2447977014 | PCDH19 | c.490_514delinsCAGACTTACGAGCTCACGCCCAACG (p.Gln164=) | |
X | g.100408085_100408108del | CA1139667695 | PCDH19 | c.490_513del (p.Gln164_Asn171del) | ClinVar dbSNP |
X | g.100408108G>A | CA207186 | PCDH19 | c.490C>T (p.Gln164Ter) | ClinVar dbSNP |
X | g.100408108G>C | CA414009514 | PCDH19 | c.490C>G (p.Gln164Glu) | |
X | g.100408108G= | CA2447977027 | PCDH19 | c.490C= (p.Gln164=) | |
X | g.100408108G>T | CA414009515 | PCDH19 | c.490C>A (p.Gln164Lys) | gnomAD v4 COSMIC |
X | g.100408108dup | CA658824277 | PCDH19 | c.490dup (p.Gln164ProfsTer?) | ClinVar dbSNP |
X | g.100408108_100408109delinsAT | CA658824276 | PCDH19 | c.489_490delinsAT (p.Val164Ter) | ClinVar dbSNP |
X | g.100408108_100408109delinsGC | CA2447977028 | PCDH19 | c.489_490delinsGC (p.Val163=) | |
X | g.100408109C>A | CA517748574 | PCDH19 | c.489G>T (p.Val163=) | COSMIC |
X | g.100408109C>G | CA517748577 | PCDH19 | c.489G>C (p.Val163=) | |
X | g.100408109C>T | CA517748580 | PCDH19 | c.489G>A (p.Val163=) | gnomAD v4 |
X | g.100408110A>C | CA414009516 | PCDH19 | c.488T>G (p.Val163Gly) | |
X | g.100408110A>G | CA414009517 | PCDH19 | c.488T>C (p.Val163Ala) | |
X | g.100408110A>T | CA414009518 | PCDH19 | c.488T>A (p.Val163Glu) | |
X | g.100408111C>A | CA414009519 | PCDH19 | c.487G>T (p.Val163Leu) | |
X | g.100408111C>G | CA414009520 | PCDH19 | c.487G>C (p.Val163Leu) | |
X | g.100408111C>T | CA414009521 | PCDH19 | c.487G>A (p.Val163Met) | ClinVar COSMIC |
X | g.100408112G>A | CA517748584 | PCDH19 | c.486C>T (p.Gly162=) | |
X | g.100408112G>C | CA517748586 | PCDH19 | c.486C>G (p.Gly162=) | |
X | g.100408112G>T | CA517748588 | PCDH19 | c.486C>A (p.Gly162=) | |
X | g.100408113C>A | CA414009523 | PCDH19 | c.485G>T (p.Gly162Val) | |
X | g.100408113C= | CA2447977029 | PCDH19 | c.485G= (p.Gly162=) | |
X | g.100408113C>G | CA414009524 | PCDH19 | c.485G>C (p.Gly162Ala) | |
X | g.100408113C>T | CA414009522 | PCDH19 | c.485G>A (p.Gly162Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100408114C>A | CA414009525 | PCDH19 | c.484G>T (p.Gly162Cys) | COSMIC |
X | g.100408114C>G | CA414009527 | PCDH19 | c.484G>C (p.Gly162Arg) | |
X | g.100408114C>T | CA414009526 | PCDH19 | c.484G>A (p.Gly162Ser) | |
X | g.100408115A= | CA2447977030 | PCDH19 | c.483T= (p.Phe161=) | |
X | g.100408115A>C | CA414009528 | PCDH19 | c.483T>G (p.Phe161Leu) | |
X | g.100408115A>G | CA517748601 | PCDH19 | c.483T>C (p.Phe161=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100408115A>T | CA414009529 | PCDH19 | c.483T>A (p.Phe161Leu) | |
X | g.100408116A= | CA2447977031 | PCDH19 | c.482T= (p.Phe161=) | |
X | g.100408116A>C | CA414009530 | PCDH19 | c.482T>G (p.Phe161Cys) | |
X | g.100408116A>G | CA10468988 | PCDH19 | c.482T>C (p.Phe161Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408116A>T | CA414009531 | PCDH19 | c.482T>A (p.Phe161Tyr) | |
X | g.100408117A>C | CA414009532 | PCDH19 | c.481T>G (p.Phe161Val) | |
X | g.100408117A>G | CA414009533 | PCDH19 | c.481T>C (p.Phe161Leu) | |
X | g.100408117A>T | CA414009534 | PCDH19 | c.481T>A (p.Phe161Ile) | |
X | g.100408118G>A | CA517748613 | PCDH19 | c.480C>T (p.Ser160=) | |
X | g.100408118G>C | CA414009535 | PCDH19 | c.480C>G (p.Ser160Arg) | |
X | g.100408118G>T | CA414009536 | PCDH19 | c.480C>A (p.Ser160Arg) | |
X | g.100408119C>A | CA414009537 | PCDH19 | c.479G>T (p.Ser160Ile) | |
X | g.100408119C= | CA2447977032 | PCDH19 | c.479G= (p.Ser160=) | |
X | g.100408119C>G | CA414009538 | PCDH19 | c.479G>C (p.Ser160Thr) | |
X | g.100408119C>T | CA238708 | PCDH19 | c.479G>A (p.Ser160Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408120T>A | CA414009539 | PCDH19 | c.478A>T (p.Ser160Cys) | |
X | g.100408120T>C | CA414009541 | PCDH19 | c.478A>G (p.Ser160Gly) | gnomAD v4 |
X | g.100408120T>G | CA414009540 | PCDH19 | c.478A>C (p.Ser160Arg) | |
X | g.100408121del | CA2739273665 | PCDH19 | c.478del (p.Ser160AlafsTer?) | ClinVar |