| X | g.100408027_100408029dup | CA16621149 | PCDH19 | c.570_572dup (p.Val191_Val192insVal)
| ClinVar dbSNP |
| X | g.100408028G>A | CA517748253 | PCDH19 | c.570C>T (p.Leu190=)
| dbSNP |
| X | g.100408028G>C | CA517748254 | PCDH19 | c.570C>G (p.Leu190=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408028G= | CA2447976981 | PCDH19 | c.570C= (p.Leu190=)
| |
| X | g.100408028G>T | CA517748257 | PCDH19 | c.570C>A (p.Leu190=)
| gnomAD v4 |
| X | g.100408029A>C | CA414009263 | PCDH19 | c.569T>G (p.Leu190Arg)
| |
| X | g.100408029A>G | CA414009266 | PCDH19 | c.569T>C (p.Leu190Pro)
| ClinVar dbSNP |
| X | g.100408029A>T | CA414009268 | PCDH19 | c.569T>A (p.Leu190His)
| |
| X | g.100408030G>A | CA414009274 | PCDH19 | c.568C>T (p.Leu190Phe)
| |
| X | g.100408030G>C | CA414009271 | PCDH19 | c.568C>G (p.Leu190Val)
| |
| X | g.100408030G>T | CA414009272 | PCDH19 | c.568C>A (p.Leu190Ile)
| |
| X | g.100408031T>A | CA414009277 | PCDH19 | c.567A>T (p.Glu189Asp)
| |
| X | g.100408031T>C | CA517748262 | PCDH19 | c.567A>G (p.Glu189=)
| ClinVar |
| X | g.100408031T>G | CA414009280 | PCDH19 | c.567A>C (p.Glu189Asp)
| |
| X | g.100408032T>A | CA414009283 | PCDH19 | c.566A>T (p.Glu189Val)
| |
| X | g.100408032T>C | CA414009285 | PCDH19 | c.566A>G (p.Glu189Gly)
| |
| X | g.100408032T>G | CA414009287 | PCDH19 | c.566A>C (p.Glu189Ala)
| |
| X | g.100408033C>A | CA414009290 | PCDH19 | c.565G>T (p.Glu189Ter)
| ClinVar dbSNP |
| X | g.100408033C= | CA2447976982 | PCDH19 | c.565G= (p.Glu189=)
| |
| X | g.100408033C>G | CA414009292 | PCDH19 | c.565G>C (p.Glu189Gln)
| |
| X | g.100408033C>T | CA414009295 | PCDH19 | c.565G>A (p.Glu189Lys)
| COSMIC |
| X | g.100408033_100408034delinsCG | CA2447976983 | PCDH19 | c.564_565delinsCG (p.Ala188=)
| |
| X | g.100408034G>A | CA517748271 | PCDH19 | c.564C>T (p.Ala188=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408034G>C | CA517748272 | PCDH19 | c.564C>G (p.Ala188=)
| gnomAD v4 |
| X | g.100408034G= | CA2447976984 | PCDH19 | c.564C= (p.Ala188=)
| |
| X | g.100408034G>T | CA517748273 | PCDH19 | c.564C>A (p.Ala188=)
| ClinVar dbSNP |
| X | g.100408035del | CA1139667694 | PCDH19 | c.564del (p.Glu189AsnfsTer23)
| ClinVar dbSNP |
| X | g.100408035G>A | CA414009297 | PCDH19 | c.563C>T (p.Ala188Val)
| gnomAD v4 |
| X | g.100408035G>C | CA414009301 | PCDH19 | c.563C>G (p.Ala188Gly)
| |
| X | g.100408035G>T | CA414009299 | PCDH19 | c.563C>A (p.Ala188Asp)
| gnomAD v4 |
| X | g.100408036C>A | CA414009303 | PCDH19 | c.562G>T (p.Ala188Ser)
| |
| X | g.100408036C= | CA2447976985 | PCDH19 | c.562G= (p.Ala188=)
| |
| X | g.100408036C>G | CA414009305 | PCDH19 | c.562G>C (p.Ala188Pro)
| |
| X | g.100408036C>T | CA10468977 | PCDH19 | c.562G>A (p.Ala188Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408037A= | CA2447976986 | PCDH19 | c.561T= (p.Phe187=)
| |
| X | g.100408037A>C | CA414009308 | PCDH19 | c.561T>G (p.Phe187Leu)
| |
| X | g.100408037A>G | CA517748280 | PCDH19 | c.561T>C (p.Phe187=)
| dbSNP |
| X | g.100408037A>T | CA414009310 | PCDH19 | c.561T>A (p.Phe187Leu)
| |
| X | g.100408038A>C | CA414009313 | PCDH19 | c.560T>G (p.Phe187Cys)
| |
| X | g.100408038A>G | CA414009316 | PCDH19 | c.560T>C (p.Phe187Ser)
| |
| X | g.100408038A>T | CA414009314 | PCDH19 | c.560T>A (p.Phe187Tyr)
| |
| X | g.100408039A= | CA2447976987 | PCDH19 | c.559T= (p.Phe187=)
| |
| X | g.100408039A>C | CA238713 | PCDH19 | c.559T>G (p.Phe187Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408039A>G | CA414009320 | PCDH19 | c.559T>C (p.Phe187Leu)
| |
| X | g.100408039A>T | CA414009323 | PCDH19 | c.559T>A (p.Phe187Ile)
| |
| X | g.100408040del | CA2579659333 | PCDH19 | c.558del (p.Phe187LeufsTer25)
| |
| X | g.100408040G>A | CA517748285 | PCDH19 | c.558C>T (p.Arg186=)
| |
| X | g.100408040G>C | CA517748288 | PCDH19 | c.558C>G (p.Arg186=)
| |
| X | g.100408040G>T | CA517748290 | PCDH19 | c.558C>A (p.Arg186=)
| gnomAD v4 |
| X | g.100408041C>A | CA414009326 | PCDH19 | c.557G>T (p.Arg186Leu)
| |
| X | g.100408041C>G | CA414009327 | PCDH19 | c.557G>C (p.Arg186Pro)
| |
| X | g.100408041C>T | CA414009329 | PCDH19 | c.557G>A (p.Arg186His)
| |
| X | g.100408042G>A | CA414009331 | PCDH19 | c.556C>T (p.Arg186Cys)
| gnomAD v4 |
| X | g.100408042G>C | CA414009333 | PCDH19 | c.556C>G (p.Arg186Gly)
| gnomAD v4 |
| X | g.100408042G>T | CA414009336 | PCDH19 | c.556C>A (p.Arg186Ser)
| gnomAD v4 |
| X | g.100408043G>A | CA517748295 | PCDH19 | c.555C>T (p.Ser185=)
| dbSNP gnomAD v4 |
| X | g.100408043G>C | CA517748299 | PCDH19 | c.555C>G (p.Ser185=)
| |
| X | g.100408043G>T | CA517748297 | PCDH19 | c.555C>A (p.Ser185=)
| |
| X | g.100408044G>A | CA333826093 | PCDH19 | c.554C>T (p.Ser185Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408044G>C | CA414009340 | PCDH19 | c.554C>G (p.Ser185Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408044G= | CA2447976988 | PCDH19 | c.554C= (p.Ser185=)
| |
| X | g.100408044G>T | CA414009342 | PCDH19 | c.554C>A (p.Ser185Tyr)
| gnomAD v3 gnomAD v4 |
| X | g.100408045A= | CA2447976989 | PCDH19 | c.553T= (p.Ser185=)
| |
| X | g.100408045A>C | CA414009348 | PCDH19 | c.553T>G (p.Ser185Ala)
| |
| X | g.100408045A>G | CA333826094 | PCDH19 | c.553T>C (p.Ser185Pro)
| dbSNP |
| X | g.100408045A>T | CA414009346 | PCDH19 | c.553T>A (p.Ser185Thr)
| |
| X | g.100408045dup | CA2695234734 | PCDH19 | c.553dup (p.Ser185PhefsTer?)
| |
| X | g.100408046G>A | CA517748310 | PCDH19 | c.552C>T (p.Gly184=)
| |
| X | g.100408046G>C | CA517748312 | PCDH19 | c.552C>G (p.Gly184=)
| |
| X | g.100408046G= | CA2447976990 | PCDH19 | c.552C= (p.Gly184=)
| |
| X | g.100408046G>T | CA10468978 | PCDH19 | c.552C>A (p.Gly184=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408047C>A | CA414009353 | PCDH19 | c.551G>T (p.Gly184Val)
| gnomAD v4 |
| X | g.100408047C>G | CA414009355 | PCDH19 | c.551G>C (p.Gly184Ala)
| |
| X | g.100408047C>T | CA414009357 | PCDH19 | c.551G>A (p.Gly184Asp)
| gnomAD v4 |
| X | g.100408048C>A | CA414009360 | PCDH19 | c.550G>T (p.Gly184Cys)
| |
| X | g.100408048C= | CA2447976991 | PCDH19 | c.550G= (p.Gly184=)
| |
| X | g.100408048C>G | CA414009361 | PCDH19 | c.550G>C (p.Gly184Arg)
| |
| X | g.100408048C>T | CA10468979 | PCDH19 | c.550G>A (p.Gly184Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408049G>A | CA517748330 | PCDH19 | c.549C>T (p.Asp183=)
| gnomAD v4 |
| X | g.100408049G>C | CA414009363 | PCDH19 | c.549C>G (p.Asp183Glu)
| |
| X | g.100408049G>T | CA414009362 | PCDH19 | c.549C>A (p.Asp183Glu)
| gnomAD v4 |
| X | g.100408050T>A | CA414009364 | PCDH19 | c.548A>T (p.Asp183Val)
| |
| X | g.100408050T>C | CA414009365 | PCDH19 | c.548A>G (p.Asp183Gly)
| gnomAD v4 |
| X | g.100408050T>G | CA414009366 | PCDH19 | c.548A>C (p.Asp183Ala)
| |
| X | g.100408051C>A | CA414009367 | PCDH19 | c.547G>T (p.Asp183Tyr)
| gnomAD v4 |
| X | g.100408051C>G | CA414009368 | PCDH19 | c.547G>C (p.Asp183His)
| |
| X | g.100408051C>T | CA414009369 | PCDH19 | c.547G>A (p.Asp183Asn)
| gnomAD v4 |
| X | g.100408052G>A | CA333826095 | PCDH19 | c.546C>T (p.Gly182=)
| dbSNP gnomAD v4 |
| X | g.100408052G>C | CA517748341 | PCDH19 | c.546C>G (p.Gly182=)
| |
| X | g.100408052G= | CA2447976992 | PCDH19 | c.546C= (p.Gly182=)
| |
| X | g.100408052G>T | CA517748342 | PCDH19 | c.546C>A (p.Gly182=)
| gnomAD v4 |
| X | g.100408053C>A | CA414009370 | PCDH19 | c.545G>T (p.Gly182Val)
| |
| X | g.100408053C= | CA2447976993 | PCDH19 | c.545G= (p.Gly182=)
| |
| X | g.100408053C>G | CA234492 | PCDH19 | c.545G>C (p.Gly182Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408053C>T | CA414009371 | PCDH19 | c.545G>A (p.Gly182Asp)
| |
| X | g.100408054C>A | CA414009372 | PCDH19 | c.544G>T (p.Gly182Cys)
| |
| X | g.100408054C= | CA2447976994 | PCDH19 | c.544G= (p.Gly182=)
| |
| X | g.100408054C>G | CA10468980 | PCDH19 | c.544G>C (p.Gly182Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408054C>T | CA414009373 | PCDH19 | c.544G>A (p.Gly182Ser)
| gnomAD v4 |
| X | g.100408058_100408059del | CA2580612442 | PCDH19 | c.543_544del (p.Gly182ArgfsTer?)
| ClinVar |
| X | g.100408055G>A | CA517748352 | PCDH19 | c.543C>T (p.Arg181=)
| gnomAD v4 |
| X | g.100408055G>C | CA517748353 | PCDH19 | c.543C>G (p.Arg181=)
| gnomAD v4 |
| X | g.100408055G= | CA2447976995 | PCDH19 | c.543C= (p.Arg181=)
| |
| X | g.100408055G>T | CA10468981 | PCDH19 | c.543C>A (p.Arg181=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408056C>A | CA414009374 | PCDH19 | c.542G>T (p.Arg181Leu)
| |
| X | g.100408056C>G | CA414009375 | PCDH19 | c.542G>C (p.Arg181Pro)
| |
| X | g.100408056C>T | CA414009376 | PCDH19 | c.542G>A (p.Arg181His)
| |
| X | g.100408057G>A | CA414009377 | PCDH19 | c.541C>T (p.Arg181Cys)
| |
| X | g.100408057G>C | CA414009378 | PCDH19 | c.541C>G (p.Arg181Gly)
| |
| X | g.100408057G>T | CA414009379 | PCDH19 | c.541C>A (p.Arg181Ser)
| gnomAD v4 |
| X | g.100408058C>A | CA517748364 | PCDH19 | c.540G>T (p.Thr180=)
| ClinVar |
| X | g.100408058C= | CA2447976996 | PCDH19 | c.540G= (p.Thr180=)
| |
| X | g.100408058C>G | CA517748365 | PCDH19 | c.540G>C (p.Thr180=)
| |
| X | g.100408058C>T | CA10468982 | PCDH19 | c.540G>A (p.Thr180=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408059G>A | CA414009380 | PCDH19 | c.539C>T (p.Thr180Met)
| |
| X | g.100408059G>C | CA316307 | PCDH19 | c.539C>G (p.Thr180Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408059G= | CA2447976997 | PCDH19 | c.539C= (p.Thr180=)
| |
| X | g.100408059G>T | CA414009381 | PCDH19 | c.539C>A (p.Thr180Lys)
| ClinVar dbSNP |
| X | g.100408060T>A | CA414009382 | PCDH19 | c.538A>T (p.Thr180Ser)
| |
| X | g.100408060T>C | CA414009384 | PCDH19 | c.538A>G (p.Thr180Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408060T>G | CA414009383 | PCDH19 | c.538A>C (p.Thr180Pro)
| |
| X | g.100408060T= | CA2447976998 | PCDH19 | c.538A= (p.Thr180=)
| |
| X | g.100408061C>A | CA414009385 | PCDH19 | c.537G>T (p.Lys179Asn)
| |
| X | g.100408061C>G | CA414009386 | PCDH19 | c.537G>C (p.Lys179Asn)
| |
| X | g.100408061C>T | CA517748371 | PCDH19 | c.537G>A (p.Lys179=)
| |
| X | g.100408062T>A | CA414009388 | PCDH19 | c.536A>T (p.Lys179Met)
| |
| X | g.100408062T>C | CA414009389 | PCDH19 | c.536A>G (p.Lys179Arg)
| |
| X | g.100408062T>G | CA414009390 | PCDH19 | c.536A>C (p.Lys179Thr)
| |
| X | g.100408063T>A | CA414009391 | PCDH19 | c.535A>T (p.Lys179Ter)
| ClinVar dbSNP |
| X | g.100408063T>C | CA414009392 | PCDH19 | c.535A>G (p.Lys179Glu)
| |
| X | g.100408063T>G | CA414009393 | PCDH19 | c.535A>C (p.Lys179Gln)
| dbSNP |
| X | g.100408063T= | CA2447976999 | PCDH19 | c.535A= (p.Lys179=)
| |
| X | g.100408064G>A | CA517748382 | PCDH19 | c.534C>T (p.Ile178=)
| |
| X | g.100408064G>C | CA414009394 | PCDH19 | c.534C>G (p.Ile178Met)
| ClinVar gnomAD v4 |
| X | g.100408064G= | CA2447977000 | PCDH19 | c.534C= (p.Ile178=)
| |
| X | g.100408064G>T | CA10468983 | PCDH19 | c.534C>A (p.Ile178=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408064_100408065delinsGA | CA2447977001 | PCDH19 | c.533_534delinsTC (p.Ile178=)
| |
| X | g.100408065del | CA916083984 | PCDH19 | c.533del (p.Ile178ThrfsTer?)
| ClinVar dbSNP |
| X | g.100408065A= | CA2447977002 | PCDH19 | c.533T= (p.Ile178=)
| |
| X | g.100408065A>C | CA414009397 | PCDH19 | c.533T>G (p.Ile178Ser)
| dbSNP gnomAD v4 COSMIC |
| X | g.100408065A>G | CA414009396 | PCDH19 | c.533T>C (p.Ile178Thr)
| |
| X | g.100408065A>T | CA414009395 | PCDH19 | c.533T>A (p.Ile178Asn)
| |
| X | g.100408066T>A | CA414009398 | PCDH19 | c.532A>T (p.Ile178Phe)
| |
| X | g.100408066T>C | CA414009399 | PCDH19 | c.532A>G (p.Ile178Val)
| |
| X | g.100408066T>G | CA414009400 | PCDH19 | c.532A>C (p.Ile178Leu)
| |
| X | g.100408067C>A | CA414009401 | PCDH19 | c.531G>T (p.Glu177Asp)
| |
| X | g.100408067C= | CA2447977003 | PCDH19 | c.531G= (p.Glu177=)
| |
| X | g.100408067C>G | CA414009402 | PCDH19 | c.531G>C (p.Glu177Asp)
| |
| X | g.100408067C>T | CA295138 | PCDH19 | c.531G>A (p.Glu177=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408068T>A | CA414009403 | PCDH19 | c.530A>T (p.Glu177Val)
| |
| X | g.100408068T>C | CA414009405 | PCDH19 | c.530A>G (p.Glu177Gly)
| |
| X | g.100408068T>G | CA414009407 | PCDH19 | c.530A>C (p.Glu177Ala)
| |
| X | g.100408069C>A | CA414009410 | PCDH19 | c.529G>T (p.Glu177Ter)
| |
| X | g.100408069C= | CA2447977004 | PCDH19 | c.529G= (p.Glu177=)
| |
| X | g.100408069C>G | CA414009412 | PCDH19 | c.529G>C (p.Glu177Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408069C>T | CA414009413 | PCDH19 | c.529G>A (p.Glu177Lys)
| |
| X | g.100408070C>A | CA333826096 | PCDH19 | c.528G>T (p.Leu176=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408070C= | CA2447977005 | PCDH19 | c.528G= (p.Leu176=)
| |
| X | g.100408070C>G | CA517748400 | PCDH19 | c.528G>C (p.Leu176=)
| |
| X | g.100408070C>T | CA517748401 | PCDH19 | c.528G>A (p.Leu176=)
| |
| X | g.100408071A>C | CA414009417 | PCDH19 | c.527T>G (p.Leu176Arg)
| |
| X | g.100408071A>G | CA414009419 | PCDH19 | c.527T>C (p.Leu176Pro)
| |
| X | g.100408071A>T | CA414009415 | PCDH19 | c.527T>A (p.Leu176Gln)
| |
| X | g.100408072G>A | CA10468984 | PCDH19 | c.526C>T (p.Leu176=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408072G>C | CA414009424 | PCDH19 | c.526C>G (p.Leu176Val)
| |
| X | g.100408072G= | CA2447977006 | PCDH19 | c.526C= (p.Leu176=)
| |
| X | g.100408072G>T | CA414009426 | PCDH19 | c.526C>A (p.Leu176Met)
| gnomAD v4 |
| X | g.100408073G>A | CA517748414 | PCDH19 | c.525C>T (p.Gly175=)
| |
| X | g.100408073G>C | CA517748413 | PCDH19 | c.525C>G (p.Gly175=)
| |
| X | g.100408073G>T | CA517748407 | PCDH19 | c.525C>A (p.Gly175=)
| gnomAD v4 |
| X | g.100408073_100408074delinsGC | CA2447977007 | PCDH19 | c.524_525delinsGC (p.Gly175=)
| |
| X | g.100408075_100408082del | CA2695234735 | PCDH19 | c.518_525del (p.Leu173ProfsTer?)
| |
| X | g.100408074C>A | CA414009429 | PCDH19 | c.524G>T (p.Gly175Val)
| |
| X | g.100408074C>G | CA414009431 | PCDH19 | c.524G>C (p.Gly175Ala)
| |
| X | g.100408074C>T | CA414009432 | PCDH19 | c.524G>A (p.Gly175Asp)
| gnomAD v4 |
| X | g.100408075del | CA316399 | PCDH19 | c.524del (p.Gly175AlafsTer?)
| ClinVar dbSNP |
| X | g.100408075C>A | CA414009436 | PCDH19 | c.523G>T (p.Gly175Cys)
| |
| X | g.100408075C>G | CA414009438 | PCDH19 | c.523G>C (p.Gly175Arg)
| |
| X | g.100408075C>T | CA414009440 | PCDH19 | c.523G>A (p.Gly175Ser)
| gnomAD v4 |
| X | g.100408076G>A | CA517748428 | PCDH19 | c.522C>T (p.Phe174=)
| dbSNP gnomAD v4 |
| X | g.100408076G>C | CA414009442 | PCDH19 | c.522C>G (p.Phe174Leu)
| |
| X | g.100408076G= | CA2447977008 | PCDH19 | c.522C= (p.Phe174=)
| |
| X | g.100408076G>T | CA414009444 | PCDH19 | c.522C>A (p.Phe174Leu)
| gnomAD v4 |
| X | g.100408077A>C | CA414009447 | PCDH19 | c.521T>G (p.Phe174Cys)
| |
| X | g.100408077A>G | CA414009448 | PCDH19 | c.521T>C (p.Phe174Ser)
| |
| X | g.100408077A>T | CA414009446 | PCDH19 | c.521T>A (p.Phe174Tyr)
| |
| X | g.100408078A>C | CA414009449 | PCDH19 | c.520T>G (p.Phe174Val)
| |
| X | g.100408078A>G | CA414009450 | PCDH19 | c.520T>C (p.Phe174Leu)
| |
| X | g.100408078A>T | CA414009451 | PCDH19 | c.520T>A (p.Phe174Ile)
| |
| X | g.100408079C>A | CA517748444 | PCDH19 | c.519G>T (p.Leu173=)
| gnomAD v4 |
| X | g.100408079C= | CA2447977009 | PCDH19 | c.519G= (p.Leu173=)
| |
| X | g.100408079C>G | CA517748446 | PCDH19 | c.519G>C (p.Leu173=)
| |
| X | g.100408079C>T | CA517748445 | PCDH19 | c.519G>A (p.Leu173=)
| dbSNP gnomAD v2 |
| X | g.100408080A= | CA2447977010 | PCDH19 | c.518T= (p.Leu173=)
| |
| X | g.100408080A>C | CA414009452 | PCDH19 | c.518T>G (p.Leu173Arg)
| |
| X | g.100408080A>G | CA414009453 | PCDH19 | c.518T>C (p.Leu173Pro)
| gnomAD v4 |
| X | g.100408080A>T | CA414009454 | PCDH19 | c.518T>A (p.Leu173Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408081G>A | CA517748455 | PCDH19 | c.517C>T (p.Leu173=)
| dbSNP gnomAD v4 |
| X | g.100408081G>C | CA414009455 | PCDH19 | c.517C>G (p.Leu173Val)
| |
| X | g.100408081G= | CA2447977011 | PCDH19 | c.517C= (p.Leu173=)
| |
| X | g.100408081G>T | CA414009456 | PCDH19 | c.517C>A (p.Leu173Met)
| |
| X | g.100408082C>A | CA414009457 | PCDH19 | c.516G>T (p.Glu172Asp)
| |
| X | g.100408082C= | CA2447977012 | PCDH19 | c.516G= (p.Glu172=)
| |
| X | g.100408082C>G | CA10468985 | PCDH19 | c.516G>C (p.Glu172Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408082C>T | CA517748463 | PCDH19 | c.516G>A (p.Glu172=)
| |
| X | g.100408083del | CA2580100079 | PCDH19 | c.515del (p.Glu172GlyfsTer?)
| ClinVar |
| X | g.100408083T>A | CA414009458 | PCDH19 | c.515A>T (p.Glu172Val)
| |
| X | g.100408083T>C | CA414009459 | PCDH19 | c.515A>G (p.Glu172Gly)
| |
| X | g.100408083T>G | CA414009460 | PCDH19 | c.515A>C (p.Glu172Ala)
| |
| X | g.100408084C>A | CA414009463 | PCDH19 | c.514G>T (p.Glu172Ter)
| ClinVar dbSNP |
| X | g.100408084C= | CA2447977013 | PCDH19 | c.514G= (p.Glu172=)
| |
| X | g.100408084C>G | CA414009461 | PCDH19 | c.514G>C (p.Glu172Gln)
| |
| X | g.100408084C>T | CA414009462 | PCDH19 | c.514G>A (p.Glu172Lys)
| |
| X | g.100408084dup | CA2695234736 | PCDH19 | c.514dup (p.Glu172GlyfsTer?)
| |
| X | g.100408084_100408108delinsCGTTGGGCGTGAGCTCGTAAGTCTG | CA2447977014 | PCDH19 | c.490_514delinsCAGACTTACGAGCTCACGCCCAACG (p.Gln164=)
| |
| X | g.100408085G>A | CA316236 | PCDH19 | c.513C>T (p.Asn171=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408085G>C | CA414009465 | PCDH19 | c.513C>G (p.Asn171Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408085G= | CA2447977015 | PCDH19 | c.513C= (p.Asn171=)
| |
| X | g.100408085G>T | CA414009464 | PCDH19 | c.513C>A (p.Asn171Lys)
| gnomAD v4 |
| X | g.100408085_100408108del | CA1139667695 | PCDH19 | c.490_513del (p.Gln164_Asn171del)
| ClinVar dbSNP |
| X | g.100408086T>A | CA414009466 | PCDH19 | c.512A>T (p.Asn171Ile)
| |
| X | g.100408086T>C | CA10468986 | PCDH19 | c.512A>G (p.Asn171Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408086T>G | CA414009467 | PCDH19 | c.512A>C (p.Asn171Thr)
| dbSNP |
| X | g.100408086T= | CA2447977016 | PCDH19 | c.512A= (p.Asn171=)
| |
| X | g.100408087dup | CA2580100080 | PCDH19 | c.512dup (p.Asn171LysfsTer?)
| ClinVar |
| X | g.100408087T>A | CA414009468 | PCDH19 | c.511A>T (p.Asn171Tyr)
| |
| X | g.100408087T>C | CA414009469 | PCDH19 | c.511A>G (p.Asn171Asp)
| COSMIC |
| X | g.100408087T>G | CA414009470 | PCDH19 | c.511A>C (p.Asn171His)
| |
| X | g.100408088G>A | CA517748487 | PCDH19 | c.510C>T (p.Pro170=)
| dbSNP |
| X | g.100408088G>C | CA517748489 | PCDH19 | c.510C>G (p.Pro170=)
| |
| X | g.100408088G= | CA2447977017 | PCDH19 | c.510C= (p.Pro170=)
| |
| X | g.100408088G>T | CA517748490 | PCDH19 | c.510C>A (p.Pro170=)
| |
| X | g.100408089G>A | CA414009471 | PCDH19 | c.509C>T (p.Pro170Leu)
| |
| X | g.100408089G>C | CA414009472 | PCDH19 | c.509C>G (p.Pro170Arg)
| |
| X | g.100408089G>T | CA414009473 | PCDH19 | c.509C>A (p.Pro170His)
| |
| X | g.100408090G>A | CA414009474 | PCDH19 | c.508C>T (p.Pro170Ser)
| |
| X | g.100408090G>C | CA414009475 | PCDH19 | c.508C>G (p.Pro170Ala)
| |
| X | g.100408090G>T | CA414009476 | PCDH19 | c.508C>A (p.Pro170Thr)
| gnomAD v4 |
| X | g.100408091C>A | CA517748504 | PCDH19 | c.507G>T (p.Thr169=)
| |
| X | g.100408091C= | CA2447977018 | PCDH19 | c.507G= (p.Thr169=)
| |
| X | g.100408091C>G | CA517748508 | PCDH19 | c.507G>C (p.Thr169=)
| |
| X | g.100408091C>T | CA517748510 | PCDH19 | c.507G>A (p.Thr169=)
| dbSNP gnomAD v2 |
| X | g.100408092del | CA913187337 | PCDH19 | c.506del (p.Thr169SerfsTer?)
| ClinVar dbSNP |
| X | g.100408092G>A | CA414009477 | PCDH19 | c.506C>T (p.Thr169Met)
| |
| X | g.100408092G>C | CA414009478 | PCDH19 | c.506C>G (p.Thr169Arg)
| gnomAD v4 |
| X | g.100408092G>T | CA414009479 | PCDH19 | c.506C>A (p.Thr169Lys)
| gnomAD v4 |
| X | g.100408093T>A | CA414009482 | PCDH19 | c.505A>T (p.Thr169Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408093T>C | CA414009480 | PCDH19 | c.505A>G (p.Thr169Ala)
| |
| X | g.100408093T>G | CA414009481 | PCDH19 | c.505A>C (p.Thr169Pro)
| |
| X | g.100408093T= | CA2447977019 | PCDH19 | c.505A= (p.Thr169=)
| |
| X | g.100408094G>A | CA517748515 | PCDH19 | c.504C>T (p.Leu168=)
| gnomAD v4 |
| X | g.100408094G>C | CA517748521 | PCDH19 | c.504C>G (p.Leu168=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408094G= | CA2447977020 | PCDH19 | c.504C= (p.Leu168=)
| |
| X | g.100408094G>T | CA517748523 | PCDH19 | c.504C>A (p.Leu168=)
| |
| X | g.100408095A>C | CA414009483 | PCDH19 | c.503T>G (p.Leu168Arg)
| |
| X | g.100408095A>G | CA414009484 | PCDH19 | c.503T>C (p.Leu168Pro)
| |
| X | g.100408095A>T | CA414009485 | PCDH19 | c.503T>A (p.Leu168His)
| |
| X | g.100408096G>A | CA414009486 | PCDH19 | c.502C>T (p.Leu168Phe)
| |
| X | g.100408096G>C | CA414009487 | PCDH19 | c.502C>G (p.Leu168Val)
| |
| X | g.100408096G>T | CA414009488 | PCDH19 | c.502C>A (p.Leu168Ile)
| |
| X | g.100408097C>A | CA414009489 | PCDH19 | c.501G>T (p.Glu167Asp)
| |
| X | g.100408097C= | CA2447977021 | PCDH19 | c.501G= (p.Glu167=)
| |
| X | g.100408097C>G | CA414009490 | PCDH19 | c.501G>C (p.Glu167Asp)
| |
| X | g.100408097C>T | CA517748538 | PCDH19 | c.501G>A (p.Glu167=)
| dbSNP gnomAD v4 |
| X | g.100408098T>A | CA414009491 | PCDH19 | c.500A>T (p.Glu167Val)
| |
| X | g.100408098T>C | CA414009492 | PCDH19 | c.500A>G (p.Glu167Gly)
| |
| X | g.100408098T>G | CA414009493 | PCDH19 | c.500A>C (p.Glu167Ala)
| |
| X | g.100408099C>A | CA414009496 | PCDH19 | c.499G>T (p.Glu167Ter)
| ClinVar dbSNP |
| X | g.100408099C= | CA2447977022 | PCDH19 | c.499G= (p.Glu167=)
| |
| X | g.100408099C>G | CA414009495 | PCDH19 | c.499G>C (p.Glu167Gln)
| gnomAD v4 COSMIC |
| X | g.100408099C>T | CA414009494 | PCDH19 | c.499G>A (p.Glu167Lys)
| |
| X | g.100408100del | CA2499226260 | PCDH19 | c.498del (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100G>A | CA517748542 | PCDH19 | c.498C>T (p.Tyr166=)
| |
| X | g.100408100G>C | CA316409 | PCDH19 | c.498C>G (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100G= | CA2447977023 | PCDH19 | c.498C= (p.Tyr166=)
| |
| X | g.100408100G>T | CA414009497 | PCDH19 | c.498C>A (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100_100408102delinsTTT | CA2695234737 | PCDH19 | c.496_498delinsAAA (p.Tyr166Lys)
| |
| X | g.100408101T>A | CA172959 | PCDH19 | c.497A>T (p.Tyr166Phe)
| ClinVar dbSNP |
| X | g.100408101T>C | CA414009498 | PCDH19 | c.497A>G (p.Tyr166Cys)
| |
| X | g.100408101T>G | CA414009499 | PCDH19 | c.497A>C (p.Tyr166Ser)
| |
| X | g.100408101T= | CA2447977024 | PCDH19 | c.497A= (p.Tyr166=)
| |
| X | g.100408101dup | CA10468987 | PCDH19 | c.497dup (p.Tyr166Ter)
| dbSNP ExAC gnomAD v2 |
| X | g.100408102A>C | CA414009500 | PCDH19 | c.496T>G (p.Tyr166Asp)
| ClinVar |
| X | g.100408102A>G | CA414009501 | PCDH19 | c.496T>C (p.Tyr166His)
| |
| X | g.100408102A>T | CA414009502 | PCDH19 | c.496T>A (p.Tyr166Asn)
| |
| X | g.100408102_100408103insTTT | CA2573332651 | PCDH19 | c.495_496insAAA (p.Thr165_Tyr166insLys)
| |
| X | g.100408103A>C | CA517748553 | PCDH19 | c.495T>G (p.Thr165=)
| |
| X | g.100408103A>G | CA517748552 | PCDH19 | c.495T>C (p.Thr165=)
| |
| X | g.100408103A>T | CA517748550 | PCDH19 | c.495T>A (p.Thr165=)
| |
| X | g.100408104G>A | CA414009503 | PCDH19 | c.494C>T (p.Thr165Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408104G>C | CA414009504 | PCDH19 | c.494C>G (p.Thr165Ser)
| |
| X | g.100408104G= | CA2447977025 | PCDH19 | c.494C= (p.Thr165=)
| |
| X | g.100408104G>T | CA414009505 | PCDH19 | c.494C>A (p.Thr165Asn)
| |
| X | g.100408105T>A | CA414009506 | PCDH19 | c.493A>T (p.Thr165Ser)
| |
| X | g.100408105T>C | CA414009507 | PCDH19 | c.493A>G (p.Thr165Ala)
| COSMIC |
| X | g.100408105T>G | CA414009508 | PCDH19 | c.493A>C (p.Thr165Pro)
| ClinVar dbSNP |
| X | g.100408106C>A | CA414009509 | PCDH19 | c.492G>T (p.Gln164His)
| |
| X | g.100408106C>G | CA414009510 | PCDH19 | c.492G>C (p.Gln164His)
| |
| X | g.100408106C>T | CA517748564 | PCDH19 | c.492G>A (p.Gln164=)
| |
| X | g.100408107T>A | CA414009511 | PCDH19 | c.491A>T (p.Gln164Leu)
| |
| X | g.100408107T>C | CA414009512 | PCDH19 | c.491A>G (p.Gln164Arg)
| |
| X | g.100408107T>G | CA414009513 | PCDH19 | c.491A>C (p.Gln164Pro)
| |
| X | g.100408107T= | CA2447977026 | PCDH19 | c.491A= (p.Gln164=)
| |
| 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 |
| X | g.100408121T>A | CA517748624 | PCDH19 | c.477A>T (p.Gly159=)
| |
| X | g.100408121T>C | CA517748625 | PCDH19 | c.477A>G (p.Gly159=)
| gnomAD v4 |
| X | g.100408121T>G | CA517748623 | PCDH19 | c.477A>C (p.Gly159=)
| dbSNP |
| X | g.100408121T= | CA2447977033 | PCDH19 | c.477A= (p.Gly159=)
| |
| X | g.100408121_100408122delinsTC | CA2447977034 | PCDH19 | c.476_477delinsGA (p.Gly159=)
| |
| X | g.100408122C>A | CA414009542 | PCDH19 | c.476G>T (p.Gly159Val)
| gnomAD v4 |
| X | g.100408122C>G | CA414009543 | PCDH19 | c.476G>C (p.Gly159Ala)
| |
| X | g.100408122C>T | CA414009544 | PCDH19 | c.476G>A (p.Gly159Glu)
| |
| X | g.100408123del | CA1139667696 | PCDH19 | c.476del (p.Gly159GlufsTer?)
| ClinVar dbSNP |
| X | g.100408123C>A | CA414009545 | PCDH19 | c.475G>T (p.Gly159Ter)
| |
| X | g.100408123C>G | CA414009546 | PCDH19 | c.475G>C (p.Gly159Arg)
| ClinVar gnomAD v4 |
| X | g.100408123C>T | CA414009547 | PCDH19 | c.475G>A (p.Gly159Arg)
| ClinVar dbSNP |
| X | g.100408124T>A | CA517748628 | PCDH19 | c.474A>T (p.Ser158=)
| gnomAD v4 |
| X | g.100408124T>C | CA517748630 | PCDH19 | c.474A>G (p.Ser158=)
| ClinVar gnomAD v4 |
| X | g.100408124T>G | CA517748632 | PCDH19 | c.474A>C (p.Ser158=)
| |
| X | g.100408125G>A | CA414009548 | PCDH19 | c.473C>T (p.Ser158Leu)
| |
| X | g.100408125G>C | CA316301 | PCDH19 | c.473C>G (p.Ser158Ter)
| ClinVar dbSNP |
| X | g.100408125G= | CA2447977035 | PCDH19 | c.473C= (p.Ser158=)
| |
| X | g.100408125G>T | CA414009549 | PCDH19 | c.473C>A (p.Ser158Ter)
| |
| X | g.100408126A= | CA2447977036 | PCDH19 | c.472T= (p.Ser158=)
| |
| X | g.100408126A>C | CA414009552 | PCDH19 | c.472T>G (p.Ser158Ala)
| |
| X | g.100408126A>G | CA414009551 | PCDH19 | c.472T>C (p.Ser158Pro)
| |
| X | g.100408126A>T | CA414009550 | PCDH19 | c.472T>A (p.Ser158Thr)
| |
| X | g.100408127G>A | CA517748649 | PCDH19 | c.471C>T (p.Asp157=)
| |
| X | g.100408127G>C | CA414009554 | PCDH19 | c.471C>G (p.Asp157Glu)
| |
| X | g.100408127G>T | CA414009556 | PCDH19 | c.471C>A (p.Asp157Glu)
| gnomAD v4 |
| X | g.100408127dup | CA916083985 | PCDH19 | c.471dup (p.Ser158LeufsTer?)
| ClinVar dbSNP |
| X | g.100408128T>A | CA414009558 | PCDH19 | c.470A>T (p.Asp157Val)
| |
| X | g.100408128T>C | CA414009559 | PCDH19 | c.470A>G (p.Asp157Gly)
| gnomAD v4 |
| X | g.100408128T>G | CA414009562 | PCDH19 | c.470A>C (p.Asp157Ala)
| ClinVar dbSNP |
| X | g.100408128T= | CA2447977037 | PCDH19 | c.470A= (p.Asp157=)
| |
