Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407684T>A | CA414005025 | PCDH19 | c.914A>T (p.Asp305Val) | |
X | g.100407684T>C | CA414005027 | PCDH19 | c.914A>G (p.Asp305Gly) | ClinVar dbSNP |
X | g.100407684T>G | CA414005026 | PCDH19 | c.914A>C (p.Asp305Ala) | |
X | g.100407684T= | CA2447976817 | PCDH19 | c.914A= (p.Asp305=) | |
X | g.100407685C>A | CA414005028 | PCDH19 | c.913G>T (p.Asp305Tyr) | |
X | g.100407685C>G | CA414005029 | PCDH19 | c.913G>C (p.Asp305His) | |
X | g.100407685C>T | CA414005030 | PCDH19 | c.913G>A (p.Asp305Asn) | |
X | g.100407686T>A | CA414005031 | PCDH19 | c.912A>T (p.Leu304Phe) | |
X | g.100407686T>C | CA517748602 | PCDH19 | c.912A>G (p.Leu304=) | |
X | g.100407686T>G | CA414005032 | PCDH19 | c.912A>C (p.Leu304Phe) | |
X | g.100407687A>C | CA414005033 | PCDH19 | c.911T>G (p.Leu304Ter) | |
X | g.100407687A>G | CA414005034 | PCDH19 | c.911T>C (p.Leu304Ser) | |
X | g.100407687A>T | CA414005035 | PCDH19 | c.911T>A (p.Leu304Ter) | |
X | g.100407688A>C | CA414005036 | PCDH19 | c.910T>G (p.Leu304Val) | |
X | g.100407688A>G | CA517748605 | PCDH19 | c.910T>C (p.Leu304=) | |
X | g.100407688A>T | CA414005037 | PCDH19 | c.910T>A (p.Leu304Ile) | |
X | g.100407689A>C | CA517748607 | PCDH19 | c.909T>G (p.Ala303=) | |
X | g.100407689A>G | CA517748609 | PCDH19 | c.909T>C (p.Ala303=) | |
X | g.100407689A>T | CA517748612 | PCDH19 | c.909T>A (p.Ala303=) | |
X | g.100407690G>A | CA414005040 | PCDH19 | c.908C>T (p.Ala303Val) | |
X | g.100407690G>C | CA414005039 | PCDH19 | c.908C>G (p.Ala303Gly) | |
X | g.100407690G>T | CA414005038 | PCDH19 | c.908C>A (p.Ala303Asp) | |
X | g.100407691C>A | CA414005043 | PCDH19 | c.907G>T (p.Ala303Ser) | |
X | g.100407691C>G | CA414005041 | PCDH19 | c.907G>C (p.Ala303Pro) | |
X | g.100407691C>T | CA414005042 | PCDH19 | c.907G>A (p.Ala303Thr) | COSMIC |
X | g.100407692G>A | CA517748619 | PCDH19 | c.906C>T (p.Gly302=) | |
X | g.100407692G>C | CA517748617 | PCDH19 | c.906C>G (p.Gly302=) | |
X | g.100407692G>T | CA517748616 | PCDH19 | c.906C>A (p.Gly302=) | gnomAD v4 |
X | g.100407693C>A | CA414005044 | PCDH19 | c.905G>T (p.Gly302Val) | |
X | g.100407693C>G | CA414005045 | PCDH19 | c.905G>C (p.Gly302Ala) | |
X | g.100407693C>T | CA414005046 | PCDH19 | c.905G>A (p.Gly302Asp) | |
X | g.100407694C>A | CA414005049 | PCDH19 | c.904G>T (p.Gly302Cys) | |
X | g.100407694C>G | CA414005048 | PCDH19 | c.904G>C (p.Gly302Arg) | |
X | g.100407694C>T | CA414005047 | PCDH19 | c.904G>A (p.Gly302Ser) | |
X | g.100407695A>C | CA517748631 | PCDH19 | c.903T>G (p.Thr301=) | |
X | g.100407695A>G | CA517748636 | PCDH19 | c.903T>C (p.Thr301=) | |
X | g.100407695A>T | CA517748638 | PCDH19 | c.903T>A (p.Thr301=) | |
X | g.100407696G>A | CA414005050 | PCDH19 | c.902C>T (p.Thr301Ile) | ClinVar dbSNP |
X | g.100407696G>C | CA414005051 | PCDH19 | c.902C>G (p.Thr301Ser) | |
X | g.100407696G= | CA2447976818 | PCDH19 | c.902C= (p.Thr301=) | |
X | g.100407696G>T | CA414005052 | PCDH19 | c.902C>A (p.Thr301Asn) | |
X | g.100407697T>A | CA414005053 | PCDH19 | c.901A>T (p.Thr301Ser) | |
X | g.100407697T>C | CA414005054 | PCDH19 | c.901A>G (p.Thr301Ala) | |
X | g.100407697T>G | CA414005055 | PCDH19 | c.901A>C (p.Thr301Pro) | |
X | g.100407698G>A | CA517748647 | PCDH19 | c.900C>T (p.Val300=) | |
X | g.100407698G>C | CA517748651 | PCDH19 | c.900C>G (p.Val300=) | |
X | g.100407698G>T | CA517748650 | PCDH19 | c.900C>A (p.Val300=) | |
X | g.100407699A= | CA2447976819 | PCDH19 | c.899T= (p.Val300=) | |
X | g.100407699A>C | CA414005056 | PCDH19 | c.899T>G (p.Val300Gly) | |
X | g.100407699A>G | CA414005058 | PCDH19 | c.899T>C (p.Val300Ala) | ClinVar dbSNP |