| X | g.100407837T>A | CA414008273 | PCDH19 | c.761A>T (p.Asn254Ile)
| |
| X | g.100407837T>C | CA414008268 | PCDH19 | c.761A>G (p.Asn254Ser)
| |
| X | g.100407837T>G | CA414008270 | PCDH19 | c.761A>C (p.Asn254Thr)
| |
| X | g.100407838T>A | CA414008276 | PCDH19 | c.760A>T (p.Asn254Tyr)
| |
| X | g.100407838T>C | CA414008278 | PCDH19 | c.760A>G (p.Asn254Asp)
| |
| X | g.100407838T>G | CA414008281 | PCDH19 | c.760A>C (p.Asn254His)
| |
| X | g.100407839G>A | CA517748229 | PCDH19 | c.759C>T (p.Pro253=)
| |
| X | g.100407839G>C | CA517748230 | PCDH19 | c.759C>G (p.Pro253=)
| |
| X | g.100407839G>T | CA517748231 | PCDH19 | c.759C>A (p.Pro253=)
| |
| X | g.100407840G>A | CA414008283 | PCDH19 | c.758C>T (p.Pro253Leu)
| dbSNP |
| X | g.100407840G>C | CA414008285 | PCDH19 | c.758C>G (p.Pro253Arg)
| |
| X | g.100407840G= | CA2447976885 | PCDH19 | c.758C= (p.Pro253=)
| |
| X | g.100407840G>T | CA10468957 | PCDH19 | c.758C>A (p.Pro253His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407842_100407844del | CA2822656801 | PCDH19 | c.756_758del (p.Pro253del)
| |
| X | g.100407841G>A | CA414008292 | PCDH19 | c.757C>T (p.Pro253Ser)
| |
| X | g.100407841G>C | CA414008294 | PCDH19 | c.757C>G (p.Pro253Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407841G= | CA2447976886 | PCDH19 | c.757C= (p.Pro253=)
| |
| X | g.100407841G>T | CA414008290 | PCDH19 | c.757C>A (p.Pro253Thr)
| |
| X | g.100407842A>C | CA517748241 | PCDH19 | c.756T>G (p.Pro252=)
| gnomAD v4 |
| X | g.100407842A>G | CA517748243 | PCDH19 | c.756T>C (p.Pro252=)
| |
| X | g.100407842A>T | CA517748244 | PCDH19 | c.756T>A (p.Pro252=)
| |
| X | g.100407843G>A | CA414008297 | PCDH19 | c.755C>T (p.Pro252Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407843G>C | CA414008300 | PCDH19 | c.755C>G (p.Pro252Arg)
| |
| X | g.100407843G= | CA2447976887 | PCDH19 | c.755C= (p.Pro252=)
| |
| X | g.100407843G>T | CA414008299 | PCDH19 | c.755C>A (p.Pro252His)
| |
| X | g.100407844G>A | CA414008303 | PCDH19 | c.754C>T (p.Pro252Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407844G>C | CA414008305 | PCDH19 | c.754C>G (p.Pro252Ala)
| |
| X | g.100407844G= | CA2447976888 | PCDH19 | c.754C= (p.Pro252=)
| |
| X | g.100407844G>T | CA414008307 | PCDH19 | c.754C>A (p.Pro252Thr)
| |
| X | g.100407845C>A | CA517748252 | PCDH19 | c.753G>T (p.Ser251=)
| gnomAD v4 COSMIC |
| X | g.100407845C= | CA2447976889 | PCDH19 | c.753G= (p.Ser251=)
| |
| X | g.100407845C>G | CA517748256 | PCDH19 | c.753G>C (p.Ser251=)
| |
| X | g.100407845C>T | CA517748258 | PCDH19 | c.753G>A (p.Ser251=)
| dbSNP gnomAD v4 COSMIC |
| X | g.100407846G>A | CA414008310 | PCDH19 | c.752C>T (p.Ser251Leu)
| dbSNP gnomAD v2 |
| X | g.100407846G>C | CA414008312 | PCDH19 | c.752C>G (p.Ser251Trp)
| |
| X | g.100407846G= | CA2447976890 | PCDH19 | c.752C= (p.Ser251=)
| |
| X | g.100407846G>T | CA414008315 | PCDH19 | c.752C>A (p.Ser251Ter)
| ClinVar COSMIC |
| X | g.100407847A= | CA2447976891 | PCDH19 | c.751T= (p.Ser251=)
| |
| X | g.100407847A>C | CA414008318 | PCDH19 | c.751T>G (p.Ser251Ala)
| |
| X | g.100407847A>G | CA414008320 | PCDH19 | c.751T>C (p.Ser251Pro)
| |
| X | g.100407847A>T | CA414008322 | PCDH19 | c.751T>A (p.Ser251Thr)
| dbSNP |
| X | g.100407848G>A | CA517748263 | PCDH19 | c.750C>T (p.Asn250=)
| |
| X | g.100407848G>C | CA316327 | PCDH19 | c.750C>G (p.Asn250Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407848G= | CA2447976892 | PCDH19 | c.750C= (p.Asn250=)
| |
| X | g.100407848G>T | CA414008326 | PCDH19 | c.750C>A (p.Asn250Lys)
| |
| X | g.100407849T>A | CA414008334 | PCDH19 | c.749A>T (p.Asn250Ile)
| |
| X | g.100407849T>C | CA414008332 | PCDH19 | c.749A>G (p.Asn250Ser)
| |
| X | g.100407849T>G | CA414008329 | PCDH19 | c.749A>C (p.Asn250Thr)
| |
| X | g.100407850T>A | CA414008337 | PCDH19 | c.748A>T (p.Asn250Tyr)
| |
| X | g.100407850T>C | CA414008339 | PCDH19 | c.748A>G (p.Asn250Asp)
| |
| X | g.100407850T>G | CA414008342 | PCDH19 | c.748A>C (p.Asn250His)
| |
| X | g.100407851T>A | CA414008344 | PCDH19 | c.747A>T (p.Glu249Asp)
| |
| X | g.100407851T>C | CA517748274 | PCDH19 | c.747A>G (p.Glu249=)
| |
| X | g.100407851T>G | CA414008346 | PCDH19 | c.747A>C (p.Glu249Asp)
| ClinVar dbSNP |
| X | g.100407852T>A | CA414008349 | PCDH19 | c.746A>T (p.Glu249Val)
| |
| X | g.100407852T>C | CA414008351 | PCDH19 | c.746A>G (p.Glu249Gly)
| ClinVar dbSNP |
| X | g.100407852T>G | CA414008353 | PCDH19 | c.746A>C (p.Glu249Ala)
| |
| X | g.100407853del | CA915951274 | PCDH19 | c.745del (p.Glu249LysfsTer?)
| ClinVar |
| X | g.100407853C>A | CA414008356 | PCDH19 | c.745G>T (p.Glu249Ter)
| |
| X | g.100407853C= | CA2447976893 | PCDH19 | c.745G= (p.Glu249=)
| |
| X | g.100407853C>G | CA414008358 | PCDH19 | c.745G>C (p.Glu249Gln)
| ClinVar dbSNP |
| X | g.100407853C>T | CA414008360 | PCDH19 | c.745G>A (p.Glu249Lys)
| |
| X | g.100407854T>A | CA517748278 | PCDH19 | c.744A>T (p.Pro248=)
| |
| X | g.100407854T>C | CA10468958 | PCDH19 | c.744A>G (p.Pro248=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407854T>G | CA517748281 | PCDH19 | c.744A>C (p.Pro248=)
| |
| X | g.100407854T= | CA2447976894 | PCDH19 | c.744A= (p.Pro248=)
| |
| X | g.100407855G>A | CA414008370 | PCDH19 | c.743C>T (p.Pro248Leu)
| |
| X | g.100407855G>C | CA414008367 | PCDH19 | c.743C>G (p.Pro248Arg)
| |
| X | g.100407855G>T | CA414008365 | PCDH19 | c.743C>A (p.Pro248Gln)
| |
| X | g.100407856G>A | CA414008373 | PCDH19 | c.742C>T (p.Pro248Ser)
| |
| X | g.100407856G>C | CA414008375 | PCDH19 | c.742C>G (p.Pro248Ala)
| |
| X | g.100407856G>T | CA414008378 | PCDH19 | c.742C>A (p.Pro248Thr)
| |
| X | g.100407857C>A | CA16608224 | PCDH19 | c.741G>T (p.Val247=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407857C= | CA2447976895 | PCDH19 | c.741G= (p.Val247=)
| |
| X | g.100407857C>G | CA517748284 | PCDH19 | c.741G>C (p.Val247=)
| |
| X | g.100407857C>T | CA517748287 | PCDH19 | c.741G>A (p.Val247=)
| |
| X | g.100407858A>C | CA414008380 | PCDH19 | c.740T>G (p.Val247Gly)
| |
| X | g.100407858A>G | CA414008383 | PCDH19 | c.740T>C (p.Val247Ala)
| |
| X | g.100407858A>T | CA414008384 | PCDH19 | c.740T>A (p.Val247Glu)
| |
| X | g.100407859C>A | CA414008387 | PCDH19 | c.739G>T (p.Val247Leu)
| gnomAD v4 |
| X | g.100407859C= | CA2447976896 | PCDH19 | c.739G= (p.Val247=)
| |
| X | g.100407859C>G | CA414008385 | PCDH19 | c.739G>C (p.Val247Leu)
| COSMIC |
| X | g.100407859C>T | CA414008386 | PCDH19 | c.739G>A (p.Val247Met)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407860G>A | CA517748293 | PCDH19 | c.738C>T (p.Ser246=)
| gnomAD v4 COSMIC |
| X | g.100407860G>C | CA414008388 | PCDH19 | c.738C>G (p.Ser246Arg)
| |
| X | g.100407860G>T | CA414008389 | PCDH19 | c.738C>A (p.Ser246Arg)
| |
| X | g.100407861C>A | CA414008390 | PCDH19 | c.737G>T (p.Ser246Ile)
| |
| X | g.100407861C>G | CA414008391 | PCDH19 | c.737G>C (p.Ser246Thr)
| |
| X | g.100407861C>T | CA414008392 | PCDH19 | c.737G>A (p.Ser246Asn)
| |
| X | g.100407862T>A | CA414008393 | PCDH19 | c.736A>T (p.Ser246Cys)
| |
| X | g.100407862T>C | CA414008395 | PCDH19 | c.736A>G (p.Ser246Gly)
| |
| X | g.100407862T>G | CA414008394 | PCDH19 | c.736A>C (p.Ser246Arg)
| |
| X | g.100407863C>A | CA517748296 | PCDH19 | c.735G>T (p.Val245=)
| |
| X | g.100407863C>G | CA517748298 | PCDH19 | c.735G>C (p.Val245=)
| |
| X | g.100407863C>T | CA517748300 | PCDH19 | c.735G>A (p.Val245=)
| ClinVar |
| X | g.100407864A>C | CA414008396 | PCDH19 | c.734T>G (p.Val245Gly)
| |
| X | g.100407864A>G | CA414008397 | PCDH19 | c.734T>C (p.Val245Ala)
| |
| X | g.100407864A>T | CA414008398 | PCDH19 | c.734T>A (p.Val245Glu)
| |
| X | g.100407865C>A | CA414008399 | PCDH19 | c.733G>T (p.Val245Leu)
| |
| X | g.100407865C>G | CA414008400 | PCDH19 | c.733G>C (p.Val245Leu)
| |
| X | g.100407865C>T | CA414008401 | PCDH19 | c.733G>A (p.Val245Met)
| |
| X | g.100407866C>A | CA517748305 | PCDH19 | c.732G>T (p.Ala244=)
| gnomAD v4 |
| X | g.100407866C= | CA2447976897 | PCDH19 | c.732G= (p.Ala244=)
| |
| X | g.100407866C>G | CA517748306 | PCDH19 | c.732G>C (p.Ala244=)
| |
| X | g.100407866C>T | CA10468959 | PCDH19 | c.732G>A (p.Ala244=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407867G>A | CA414008402 | PCDH19 | c.731C>T (p.Ala244Val)
| gnomAD v4 |
| X | g.100407867G>C | CA414008404 | PCDH19 | c.731C>G (p.Ala244Gly)
| |
| X | g.100407867G>T | CA414008406 | PCDH19 | c.731C>A (p.Ala244Glu)
| |
| X | g.100407868C>A | CA414008409 | PCDH19 | c.730G>T (p.Ala244Ser)
| |
| X | g.100407868C>G | CA414008413 | PCDH19 | c.730G>C (p.Ala244Pro)
| |
| X | g.100407868C>T | CA414008411 | PCDH19 | c.730G>A (p.Ala244Thr)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407868dup | CA2695234726 | PCDH19 | c.730dup (p.Ala244GlyfsTer?)
| |
| X | g.100407869G>A | CA517748309 | PCDH19 | c.729C>T (p.Tyr243=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407869G>C | CA414008416 | PCDH19 | c.729C>G (p.Tyr243Ter)
| ClinVar |
| X | g.100407869G= | CA2447976898 | PCDH19 | c.729C= (p.Tyr243=)
| |
| X | g.100407869G>T | CA414008418 | PCDH19 | c.729C>A (p.Tyr243Ter)
| ClinVar dbSNP |
| X | g.100407870T>A | CA414008422 | PCDH19 | c.728A>T (p.Tyr243Phe)
| |
| X | g.100407870T>C | CA414008425 | PCDH19 | c.728A>G (p.Tyr243Cys)
| |
| X | g.100407870T>G | CA414008423 | PCDH19 | c.728A>C (p.Tyr243Ser)
| |
| X | g.100407871A>C | CA414008428 | PCDH19 | c.727T>G (p.Tyr243Asp)
| |
| X | g.100407871A>G | CA414008432 | PCDH19 | c.727T>C (p.Tyr243His)
| |
| X | g.100407871A>T | CA414008430 | PCDH19 | c.727T>A (p.Tyr243Asn)
| |
| X | g.100407872G>A | CA517748326 | PCDH19 | c.726C>T (p.Thr242=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407872G>C | CA517748323 | PCDH19 | c.726C>G (p.Thr242=)
| |
| X | g.100407872G= | CA2447976899 | PCDH19 | c.726C= (p.Thr242=)
| |
| X | g.100407872G>T | CA517748321 | PCDH19 | c.726C>A (p.Thr242=)
| dbSNP |
| X | g.100407873G>A | CA414008436 | PCDH19 | c.725C>T (p.Thr242Ile)
| |
| X | g.100407873G>C | CA414008437 | PCDH19 | c.725C>G (p.Thr242Ser)
| |
| X | g.100407873G>T | CA414008440 | PCDH19 | c.725C>A (p.Thr242Asn)
| |
| X | g.100407874T>A | CA414008443 | PCDH19 | c.724A>T (p.Thr242Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407874T>C | CA414008445 | PCDH19 | c.724A>G (p.Thr242Ala)
| gnomAD v4 |
| X | g.100407874T>G | CA414008447 | PCDH19 | c.724A>C (p.Thr242Pro)
| |
| X | g.100407874T= | CA2447976900 | PCDH19 | c.724A= (p.Thr242=)
| |
| X | g.100407875G>A | CA517748332 | PCDH19 | c.723C>T (p.Ser241=)
| gnomAD v4 |
| X | g.100407875G>C | CA517748336 | PCDH19 | c.723C>G (p.Ser241=)
| |
| X | g.100407875G>T | CA517748338 | PCDH19 | c.723C>A (p.Ser241=)
| |
| X | g.100407876G>A | CA414008450 | PCDH19 | c.722C>T (p.Ser241Phe)
| |
| X | g.100407876G>C | CA414008453 | PCDH19 | c.722C>G (p.Ser241Cys)
| |
| X | g.100407876G= | CA2447976901 | PCDH19 | c.722C= (p.Ser241=)
| |
| X | g.100407876G>T | CA333826087 | PCDH19 | c.722C>A (p.Ser241Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407877A>C | CA414008458 | PCDH19 | c.721T>G (p.Ser241Ala)
| gnomAD v4 |
| X | g.100407877A>G | CA414008460 | PCDH19 | c.721T>C (p.Ser241Pro)
| |
| X | g.100407877A>T | CA414008462 | PCDH19 | c.721T>A (p.Ser241Thr)
| |
| X | g.100407878C>A | CA414008465 | PCDH19 | c.720G>T (p.Glu240Asp)
| |
| X | g.100407878C= | CA2447976902 | PCDH19 | c.720G= (p.Glu240=)
| |
| X | g.100407878C>G | CA414008468 | PCDH19 | c.720G>C (p.Glu240Asp)
| |
| X | g.100407878C>T | CA10468960 | PCDH19 | c.720G>A (p.Glu240=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407879T>A | CA414008472 | PCDH19 | c.719A>T (p.Glu240Val)
| |
| X | g.100407879T>C | CA414008474 | PCDH19 | c.719A>G (p.Glu240Gly)
| |
| X | g.100407879T>G | CA414008476 | PCDH19 | c.719A>C (p.Glu240Ala)
| |
| X | g.100407880C>A | CA414008479 | PCDH19 | c.718G>T (p.Glu240Ter)
| |
| X | g.100407880C= | CA2447976903 | PCDH19 | c.718G= (p.Glu240=)
| |
| X | g.100407880C>G | CA316324 | PCDH19 | c.718G>C (p.Glu240Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407880C>T | CA414008483 | PCDH19 | c.718G>A (p.Glu240Lys)
| COSMIC |
| X | g.100407881G>A | CA292695 | PCDH19 | c.717C>T (p.Ser239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407881G>C | CA414008487 | PCDH19 | c.717C>G (p.Ser239Arg)
| ClinVar dbSNP |
| X | g.100407881G= | CA2447976904 | PCDH19 | c.717C= (p.Ser239=)
| |
| X | g.100407881G>T | CA414008489 | PCDH19 | c.717C>A (p.Ser239Arg)
| |
| X | g.100407882C>A | CA414008496 | PCDH19 | c.716G>T (p.Ser239Ile)
| gnomAD v4 |
| X | g.100407882C>G | CA414008493 | PCDH19 | c.716G>C (p.Ser239Thr)
| |
| X | g.100407882C>T | CA414008492 | PCDH19 | c.716G>A (p.Ser239Asn)
| |
| X | g.100407883T>A | CA414008498 | PCDH19 | c.715A>T (p.Ser239Cys)
| |
| X | g.100407883T>C | CA414008500 | PCDH19 | c.715A>G (p.Ser239Gly)
| |
| X | g.100407883T>G | CA414008502 | PCDH19 | c.715A>C (p.Ser239Arg)
| |
| X | g.100407884A= | CA2447976905 | PCDH19 | c.714T= (p.Phe238=)
| |
| X | g.100407884A>C | CA414008504 | PCDH19 | c.714T>G (p.Phe238Leu)
| |
| X | g.100407884A>G | CA517748384 | PCDH19 | c.714T>C (p.Phe238=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407884A>T | CA414008507 | PCDH19 | c.714T>A (p.Phe238Leu)
| |
| X | g.100407886del | CA2499226258 | PCDH19 | c.714del (p.Phe238LeufsTer8)
| ClinVar dbSNP |
| X | g.100407885A>C | CA414008510 | PCDH19 | c.713T>G (p.Phe238Cys)
| |
| X | g.100407885A>G | CA414008512 | PCDH19 | c.713T>C (p.Phe238Ser)
| |
| X | g.100407885A>T | CA414008514 | PCDH19 | c.713T>A (p.Phe238Tyr)
| |
| X | g.100407886A>C | CA414008517 | PCDH19 | c.712T>G (p.Phe238Val)
| |
| X | g.100407886A>G | CA414008519 | PCDH19 | c.712T>C (p.Phe238Leu)
| |
| X | g.100407886A>T | CA414008521 | PCDH19 | c.712T>A (p.Phe238Ile)
| |
| X | g.100407887C>A | CA517748397 | PCDH19 | c.711G>T (p.Val237=)
| |
| X | g.100407887C>G | CA517748395 | PCDH19 | c.711G>C (p.Val237=)
| |
| X | g.100407887C>T | CA517748391 | PCDH19 | c.711G>A (p.Val237=)
| gnomAD v4 |
| X | g.100407888A>C | CA414008528 | PCDH19 | c.710T>G (p.Val237Gly)
| |
| X | g.100407888A>G | CA414008526 | PCDH19 | c.710T>C (p.Val237Ala)
| |
| X | g.100407888A>T | CA414008524 | PCDH19 | c.710T>A (p.Val237Glu)
| |
| X | g.100407889C>A | CA414008531 | PCDH19 | c.709G>T (p.Val237Leu)
| dbSNP |
| X | g.100407889C= | CA2447976906 | PCDH19 | c.709G= (p.Val237=)
| |
| X | g.100407889C>G | CA414008533 | PCDH19 | c.709G>C (p.Val237Leu)
| |
| X | g.100407889C>T | CA414008535 | PCDH19 | c.709G>A (p.Val237Met)
| |
| X | g.100407890C>A | CA517748405 | PCDH19 | c.708G>T (p.Pro236=)
| |
| X | g.100407890C>G | CA517748403 | PCDH19 | c.708G>C (p.Pro236=)
| |
| X | g.100407890C>T | CA517748402 | PCDH19 | c.708G>A (p.Pro236=)
| |
| X | g.100407891G>A | CA414008536 | PCDH19 | c.707C>T (p.Pro236Leu)
| ClinVar dbSNP COSMIC |
| X | g.100407891G>C | CA16616407 | PCDH19 | c.707C>G (p.Pro236Arg)
| ClinVar dbSNP |
| X | g.100407891G= | CA2447976907 | PCDH19 | c.707C= (p.Pro236=)
| |
| X | g.100407891G>T | CA414008543 | PCDH19 | c.707C>A (p.Pro236Gln)
| |
| X | g.100407892G>A | CA414008547 | PCDH19 | c.706C>T (p.Pro236Ser)
| ClinVar dbSNP |
| X | g.100407892G>C | CA414008549 | PCDH19 | c.706C>G (p.Pro236Ala)
| |
| X | g.100407892G= | CA2447976908 | PCDH19 | c.706C= (p.Pro236=)
| |
| X | g.100407892G>T | CA414008551 | PCDH19 | c.706C>A (p.Pro236Thr)
| |
| X | g.100407892_100407895delinsGGTT | CA2447976909 | PCDH19 | c.703_706delinsAACC (p.Asn235=)
| |
| X | g.100407893G>A | CA10468961 | PCDH19 | c.705C>T (p.Asn235=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407893G>C | CA414008554 | PCDH19 | c.705C>G (p.Asn235Lys)
| |
| X | g.100407893G= | CA2447976911 | PCDH19 | c.705C= (p.Asn235=)
| |
| X | g.100407893G>T | CA414008556 | PCDH19 | c.705C>A (p.Asn235Lys)
| |
| X | g.100407898_100407900del | CA2447976910 | PCDH19 | c.703_705del (p.Asn235del)
| ClinVar dbSNP |
| X | g.100407894T>A | CA414008561 | PCDH19 | c.704A>T (p.Asn235Ile)
| |
| X | g.100407894T>C | CA414008563 | PCDH19 | c.704A>G (p.Asn235Ser)
| dbSNP gnomAD v4 |
| X | g.100407894T>G | CA414008559 | PCDH19 | c.704A>C (p.Asn235Thr)
| |
| X | g.100407894T= | CA2447976912 | PCDH19 | c.704A= (p.Asn235=)
| |
| X | g.100407895T>A | CA414008565 | PCDH19 | c.703A>T (p.Asn235Tyr)
| ClinVar |
| X | g.100407895T>C | CA414008567 | PCDH19 | c.703A>G (p.Asn235Asp)
| |
| X | g.100407895T>G | CA414008570 | PCDH19 | c.703A>C (p.Asn235His)
| |
| X | g.100407896G>A | CA517748422 | PCDH19 | c.702C>T (p.Asn234=)
| |
| X | g.100407896G>C | CA414008572 | PCDH19 | c.702C>G (p.Asn234Lys)
| |
| X | g.100407896G>T | CA414008575 | PCDH19 | c.702C>A (p.Asn234Lys)
| |
| X | g.100407897T>A | CA414008577 | PCDH19 | c.701A>T (p.Asn234Ile)
| |
| X | g.100407897T>C | CA414008580 | PCDH19 | c.701A>G (p.Asn234Ser)
| ClinVar dbSNP |
| X | g.100407897T>G | CA414008583 | PCDH19 | c.701A>C (p.Asn234Thr)
| ClinVar dbSNP |
| X | g.100407897T= | CA2447976913 | PCDH19 | c.701A= (p.Asn234=)
| |
| X | g.100407898T>A | CA414008586 | PCDH19 | c.700A>T (p.Asn234Tyr)
| |
| X | g.100407898T>C | CA414008587 | PCDH19 | c.700A>G (p.Asn234Asp)
| ClinVar dbSNP |
| X | g.100407898T>G | CA414008588 | PCDH19 | c.700A>C (p.Asn234His)
| |
| X | g.100407898T= | CA2447976914 | PCDH19 | c.700A= (p.Asn234=)
| |
| X | g.100407898_100407901delinsGTTA | CA2695234727 | PCDH19 | c.697_700delinsTAAC (p.Asp233Ter)
| |
| X | g.100407899G>A | CA517748433 | PCDH19 | c.699C>T (p.Asp233=)
| |
| X | g.100407899G>C | CA414008591 | PCDH19 | c.699C>G (p.Asp233Glu)
| |
| X | g.100407899G>T | CA414008593 | PCDH19 | c.699C>A (p.Asp233Glu)
| |
| X | g.100407900T>A | CA414008601 | PCDH19 | c.698A>T (p.Asp233Val)
| |
| X | g.100407900T>C | CA414008598 | PCDH19 | c.698A>G (p.Asp233Gly)
| |
| X | g.100407900T>G | CA414008597 | PCDH19 | c.698A>C (p.Asp233Ala)
| |
| X | g.100407901C>A | CA414008603 | PCDH19 | c.697G>T (p.Asp233Tyr)
| ClinVar dbSNP |
| X | g.100407901C= | CA2447976915 | PCDH19 | c.697G= (p.Asp233=)
| |
| X | g.100407901C>G | CA414008605 | PCDH19 | c.697G>C (p.Asp233His)
| |
| X | g.100407901C>T | CA414008607 | PCDH19 | c.697G>A (p.Asp233Asn)
| |
| X | g.100407902A= | CA2447976916 | PCDH19 | c.696T= (p.Asn232=)
| |
| X | g.100407902A>C | CA414008610 | PCDH19 | c.696T>G (p.Asn232Lys)
| ClinVar dbSNP |
| X | g.100407902A>G | CA517748462 | PCDH19 | c.696T>C (p.Asn232=)
| |
| X | g.100407902A>T | CA316321 | PCDH19 | c.696T>A (p.Asn232Lys)
| ClinVar dbSNP |
| X | g.100407903T>A | CA172965 | PCDH19 | c.695A>T (p.Asn232Ile)
| ClinVar dbSNP |
| X | g.100407903T>C | CA316319 | PCDH19 | c.695A>G (p.Asn232Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407903T>G | CA414008618 | PCDH19 | c.695A>C (p.Asn232Thr)
| |
| X | g.100407903T= | CA2447976917 | PCDH19 | c.695A= (p.Asn232=)
| |
| X | g.100407904T>A | CA414008621 | PCDH19 | c.694A>T (p.Asn232Tyr)
| |
| X | g.100407904T>C | CA414008623 | PCDH19 | c.694A>G (p.Asn232Asp)
| |
| X | g.100407904T>G | CA414008626 | PCDH19 | c.694A>C (p.Asn232His)
| |
| X | g.100407905G>A | CA517748476 | PCDH19 | c.693C>T (p.Ser231=)
| |
| X | g.100407905G>C | CA517748477 | PCDH19 | c.693C>G (p.Ser231=)
| |
| X | g.100407905G>T | CA517748478 | PCDH19 | c.693C>A (p.Ser231=)
| |
| X | g.100407906dup | CA2695234728 | PCDH19 | c.693dup (p.Asn232GlnfsTer2)
| |
| X | g.100407906G>A | CA414008629 | PCDH19 | c.692C>T (p.Ser231Phe)
| |
| X | g.100407906G>C | CA414008632 | PCDH19 | c.692C>G (p.Ser231Cys)
| |
| X | g.100407906G>T | CA414008634 | PCDH19 | c.692C>A (p.Ser231Tyr)
| |
| X | g.100407907A= | CA2447976918 | PCDH19 | c.691T= (p.Ser231=)
| |
| X | g.100407907A>C | CA414008638 | PCDH19 | c.691T>G (p.Ser231Ala)
| ClinVar dbSNP |
| X | g.100407907A>G | CA414008640 | PCDH19 | c.691T>C (p.Ser231Pro)
| |
| X | g.100407907A>T | CA414008636 | PCDH19 | c.691T>A (p.Ser231Thr)
| |
| X | g.100407908G>A | CA517748500 | PCDH19 | c.690C>T (p.Asp230=)
| gnomAD v4 |
| X | g.100407908G>C | CA414008643 | PCDH19 | c.690C>G (p.Asp230Glu)
| |
| X | g.100407908G>T | CA414008644 | PCDH19 | c.690C>A (p.Asp230Glu)
| COSMIC |
| X | g.100407909T>A | CA414008648 | PCDH19 | c.689A>T (p.Asp230Val)
| |
| X | g.100407909T>C | CA414008650 | PCDH19 | c.689A>G (p.Asp230Gly)
| |
| X | g.100407909T>G | CA414008653 | PCDH19 | c.689A>C (p.Asp230Ala)
| |
| X | g.100407910C>A | CA414008655 | PCDH19 | c.688G>T (p.Asp230Tyr)
| |
| X | g.100407910C= | CA2447976919 | PCDH19 | c.688G= (p.Asp230=)
| |
| X | g.100407910C>G | CA414008657 | PCDH19 | c.688G>C (p.Asp230His)
| |
| X | g.100407910C>T | CA414008660 | PCDH19 | c.688G>A (p.Asp230Asn)
| ClinVar dbSNP |
| X | g.100407910_100407911delinsCG | CA2447976920 | PCDH19 | c.687_688delinsCG (p.Thr229=)
| |
| X | g.100407911G>A | CA517748509 | PCDH19 | c.687C>T (p.Thr229=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407911G>C | CA517748514 | PCDH19 | c.687C>G (p.Thr229=)
| |
| X | g.100407911G= | CA2447976921 | PCDH19 | c.687C= (p.Thr229=)
| |
| X | g.100407911G>T | CA517748512 | PCDH19 | c.687C>A (p.Thr229=)
| |
| X | g.100407912del | CA916083982 | PCDH19 | c.687del (p.Asp230ThrfsTer16)
| ClinVar dbSNP |
| X | g.100407912G>A | CA172962 | PCDH19 | c.686C>T (p.Thr229Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407912G>C | CA414008664 | PCDH19 | c.686C>G (p.Thr229Ser)
| |
| X | g.100407912G= | CA2447976922 | PCDH19 | c.686C= (p.Thr229=)
| |
| X | g.100407912G>T | CA414008666 | PCDH19 | c.686C>A (p.Thr229Asn)
| |
| X | g.100407913T>A | CA414008669 | PCDH19 | c.685A>T (p.Thr229Ser)
| |
| X | g.100407913T>C | CA414008671 | PCDH19 | c.685A>G (p.Thr229Ala)
| |
| X | g.100407913T>G | CA414008674 | PCDH19 | c.685A>C (p.Thr229Pro)
| |
| X | g.100407914C>A | CA517748526 | PCDH19 | c.684G>T (p.Val228=)
| |
| X | g.100407914C= | CA2447976923 | PCDH19 | c.684G= (p.Val228=)
| |
| X | g.100407914C>G | CA517748529 | PCDH19 | c.684G>C (p.Val228=)
| |
| X | g.100407914C>T | CA333826088 | PCDH19 | c.684G>A (p.Val228=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407915A>C | CA414008678 | PCDH19 | c.683T>G (p.Val228Gly)
| |
| X | g.100407915A>G | CA414008680 | PCDH19 | c.683T>C (p.Val228Ala)
| |
| X | g.100407915A>T | CA414008683 | PCDH19 | c.683T>A (p.Val228Glu)
| |
| X | g.100407916C>A | CA414008686 | PCDH19 | c.682G>T (p.Val228Leu)
| |
| X | g.100407916C>G | CA414008688 | PCDH19 | c.682G>C (p.Val228Leu)
| |
| X | g.100407916C>T | CA414008690 | PCDH19 | c.682G>A (p.Val228Met)
| |
| X | g.100407917C>A | CA414008693 | PCDH19 | c.681G>T (p.Lys227Asn)
| |
| X | g.100407917C= | CA2447976924 | PCDH19 | c.681G= (p.Lys227=)
| |
| X | g.100407917C>G | CA414008695 | PCDH19 | c.681G>C (p.Lys227Asn)
| |
| X | g.100407917C>T | CA10468962 | PCDH19 | c.681G>A (p.Lys227=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407918T>A | CA414008699 | PCDH19 | c.680A>T (p.Lys227Met)
| |
| X | g.100407918T>C | CA414008701 | PCDH19 | c.680A>G (p.Lys227Arg)
| |
| X | g.100407918T>G | CA414008703 | PCDH19 | c.680A>C (p.Lys227Thr)
| COSMIC |
| X | g.100407919T>A | CA414008710 | PCDH19 | c.679A>T (p.Lys227Ter)
| ClinVar dbSNP |
| X | g.100407919T>C | CA414008708 | PCDH19 | c.679A>G (p.Lys227Glu)
| dbSNP |
| X | g.100407919T>G | CA414008706 | PCDH19 | c.679A>C (p.Lys227Gln)
| |
| X | g.100407919T= | CA2447976925 | PCDH19 | c.679A= (p.Lys227=)
| |
| X | g.100407920G>A | CA517748543 | PCDH19 | c.678C>T (p.Ile226=)
| ClinVar |
| X | g.100407920G>C | CA414008712 | PCDH19 | c.678C>G (p.Ile226Met)
| |
| X | g.100407920G>T | CA517748544 | PCDH19 | c.678C>A (p.Ile226=)
| gnomAD v4 |
| X | g.100407921A>C | CA414008718 | PCDH19 | c.677T>G (p.Ile226Ser)
| |
| X | g.100407921A>G | CA414008715 | PCDH19 | c.677T>C (p.Ile226Thr)
| |
| X | g.100407921A>T | CA414008720 | PCDH19 | c.677T>A (p.Ile226Asn)
| |
| X | g.100407922T>A | CA414008723 | PCDH19 | c.676A>T (p.Ile226Phe)
| |
| X | g.100407922T>C | CA414008725 | PCDH19 | c.676A>G (p.Ile226Val)
| ClinVar dbSNP |
| X | g.100407922T>G | CA414008728 | PCDH19 | c.676A>C (p.Ile226Leu)
| |
| X | g.100407922T= | CA2447976926 | PCDH19 | c.676A= (p.Ile226=)
| |
| X | g.100407923A>C | CA414008730 | PCDH19 | c.675T>G (p.Ser225Arg)
| |
| X | g.100407923A>G | CA517748556 | PCDH19 | c.675T>C (p.Ser225=)
| |
| X | g.100407923A>T | CA414008732 | PCDH19 | c.675T>A (p.Ser225Arg)
| |
| X | g.100407924C>A | CA414008734 | PCDH19 | c.674G>T (p.Ser225Ile)
| |
| X | g.100407924C>G | CA414008736 | PCDH19 | c.674G>C (p.Ser225Thr)
| |
| X | g.100407924C>T | CA414008738 | PCDH19 | c.674G>A (p.Ser225Asn)
| |
| X | g.100407925T>A | CA414008741 | PCDH19 | c.673A>T (p.Ser225Cys)
| |
| X | g.100407925T>C | CA414008743 | PCDH19 | c.673A>G (p.Ser225Gly)
| |
| X | g.100407925T>G | CA414008744 | PCDH19 | c.673A>C (p.Ser225Arg)
| |
| X | g.100407926A>C | CA517748571 | PCDH19 | c.672T>G (p.Leu224=)
| |
| X | g.100407926A>G | CA517748568 | PCDH19 | c.672T>C (p.Leu224=)
| |
| X | g.100407926A>T | CA517748570 | PCDH19 | c.672T>A (p.Leu224=)
| |
| X | g.100407927A>C | CA414008749 | PCDH19 | c.671T>G (p.Leu224Arg)
| |
| X | g.100407927A>G | CA414008747 | PCDH19 | c.671T>C (p.Leu224Pro)
| ClinVar dbSNP |
| X | g.100407927A>T | CA414008745 | PCDH19 | c.671T>A (p.Leu224His)
| |
| X | g.100407927_100407928delinsAG | CA2447976927 | PCDH19 | c.670_671delinsCT (p.Leu224=)
| |
| X | g.100407928G>A | CA414008751 | PCDH19 | c.670C>T (p.Leu224Phe)
| |
| X | g.100407928G>C | CA414008753 | PCDH19 | c.670C>G (p.Leu224Val)
| |
| X | g.100407928G>T | CA414008756 | PCDH19 | c.670C>A (p.Leu224Ile)
| gnomAD v4 |
| X | g.100407929del | CA915951275 | PCDH19 | c.670del (p.Ser225ValfsTer4)
| ClinVar dbSNP |
| X | g.100407929G>A | CA517748583 | PCDH19 | c.669C>T (p.Gly223=)
| gnomAD v4 |
| X | g.100407929G>C | CA517748585 | PCDH19 | c.669C>G (p.Gly223=)
| |
| X | g.100407929G>T | CA517748587 | PCDH19 | c.669C>A (p.Gly223=)
| |
| X | g.100407930C>A | CA414008758 | PCDH19 | c.668G>T (p.Gly223Val)
| |
| X | g.100407930C>G | CA414008760 | PCDH19 | c.668G>C (p.Gly223Ala)
| |
| X | g.100407930C>T | CA414008763 | PCDH19 | c.668G>A (p.Gly223Asp)
| dbSNP gnomAD v4 |
| X | g.100407931C>A | CA414008766 | PCDH19 | c.667G>T (p.Gly223Cys)
| |
| X | g.100407931C>G | CA414008768 | PCDH19 | c.667G>C (p.Gly223Arg)
| ClinVar gnomAD v4 |
| X | g.100407931C>T | CA414008770 | PCDH19 | c.667G>A (p.Gly223Ser)
| |
| X | g.100407932A>C | CA517748597 | PCDH19 | c.666T>G (p.Val222=)
| |
| X | g.100407932A>G | CA517748599 | PCDH19 | c.666T>C (p.Val222=)
| |
| X | g.100407932A>T | CA517748598 | PCDH19 | c.666T>A (p.Val222=)
| |
| X | g.100407933A>C | CA414008773 | PCDH19 | c.665T>G (p.Val222Gly)
| |
| X | g.100407933A>G | CA414008775 | PCDH19 | c.665T>C (p.Val222Ala)
| gnomAD v4 |
| X | g.100407933A>T | CA414008777 | PCDH19 | c.665T>A (p.Val222Asp)
| |
| X | g.100407934C>A | CA414008785 | PCDH19 | c.664G>T (p.Val222Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407934C= | CA2447976928 | PCDH19 | c.664G= (p.Val222=)
| |
| X | g.100407934C>G | CA414008783 | PCDH19 | c.664G>C (p.Val222Leu)
| |
| X | g.100407934C>T | CA414008780 | PCDH19 | c.664G>A (p.Val222Ile)
| |
| X | g.100407935G>A | CA517748606 | PCDH19 | c.663C>T (p.Thr221=)
| gnomAD v4 COSMIC |
| X | g.100407935G>C | CA517748608 | PCDH19 | c.663C>G (p.Thr221=)
| dbSNP gnomAD v4 |
| X | g.100407935G= | CA2447976929 | PCDH19 | c.663C= (p.Thr221=)
| |
| X | g.100407935G>T | CA517748610 | PCDH19 | c.663C>A (p.Thr221=)
| |
| X | g.100407936G>A | CA414008788 | PCDH19 | c.662C>T (p.Thr221Ile)
| |
| X | g.100407936G>C | CA414008790 | PCDH19 | c.662C>G (p.Thr221Ser)
| |
| X | g.100407936G>T | CA414008792 | PCDH19 | c.662C>A (p.Thr221Asn)
| |
| X | g.100407937T>A | CA10468963 | PCDH19 | c.661A>T (p.Thr221Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407937T>C | CA414008797 | PCDH19 | c.661A>G (p.Thr221Ala)
| ClinVar |
| X | g.100407937T>G | CA414008800 | PCDH19 | c.661A>C (p.Thr221Pro)
| |
| X | g.100407937T= | CA2447976930 | PCDH19 | c.661A= (p.Thr221=)
| |
