UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408013G>A | CA517748872 | PCDH19 | c.585C>T (p.Ser195=) | gnomAD v4 |
| X | g.100408013G>C | CA414009182 | PCDH19 | c.585C>G (p.Ser195Arg) | |
| X | g.100408013G>T | CA414009183 | PCDH19 | c.585C>A (p.Ser195Arg) | gnomAD v4 |
| X | g.100408014C>A | CA414009186 | PCDH19 | c.584G>T (p.Ser195Ile) | gnomAD v4 |
| X | g.100408014C= | CA2447976974 | PCDH19 | c.584G= (p.Ser195=) | |
| X | g.100408014C>G | CA414009188 | PCDH19 | c.584G>C (p.Ser195Thr) | |
| X | g.100408014C>T | CA414009190 | PCDH19 | c.584G>A (p.Ser195Asn) | dbSNP |
| X | g.100408015T>A | CA414009193 | PCDH19 | c.583A>T (p.Ser195Cys) | |
| X | g.100408015T>C | CA414009194 | PCDH19 | c.583A>G (p.Ser195Gly) | |
| X | g.100408015T>G | CA414009196 | PCDH19 | c.583A>C (p.Ser195Arg) | |
| X | g.100408016del | CA2580100072 | PCDH19 | c.582del (p.Ser195AlafsTer17) | ClinVar |
| X | g.100408016C>A | CA414009199 | PCDH19 | c.582G>T (p.Lys194Asn) | |
| X | g.100408016C= | CA2447976975 | PCDH19 | c.582G= (p.Lys194=) | |
| X | g.100408016C>G | CA414009202 | PCDH19 | c.582G>C (p.Lys194Asn) | |
| X | g.100408016C>T | CA517748223 | PCDH19 | c.582G>A (p.Lys194=) | dbSNP gnomAD v4 |
| X | g.100408016_100408017delinsCT | CA2447976976 | PCDH19 | c.581_582delinsAG (p.Lys194=) | |
| X | g.100408017T>A | CA414009205 | PCDH19 | c.581A>T (p.Lys194Met) | |
| X | g.100408017T>C | CA414009209 | PCDH19 | c.581A>G (p.Lys194Arg) | gnomAD v4 |
| X | g.100408017T>G | CA414009207 | PCDH19 | c.581A>C (p.Lys194Thr) | |
| X | g.100408020del | CA1139667693 | PCDH19 | c.581del (p.Lys194ArgfsTer18) | ClinVar dbSNP |
| X | g.100408018T>A | CA414009211 | PCDH19 | c.580A>T (p.Lys194Ter) | |
| X | g.100408018T>C | CA414009214 | PCDH19 | c.580A>G (p.Lys194Glu) | |
| X | g.100408018T>G | CA414009216 | PCDH19 | c.580A>C (p.Lys194Gln) | |
| X | g.100408019T>A | CA414009219 | PCDH19 | c.579A>T (p.Glu193Asp) | |
| X | g.100408019T>C | CA517748227 | PCDH19 | c.579A>G (p.Glu193=) | dbSNP gnomAD v4 |
| X | g.100408019T>G | CA414009221 | PCDH19 | c.579A>C (p.Glu193Asp) | |
| X | g.100408019T= | CA2447976977 | PCDH19 | c.579A= (p.Glu193=) | |
| X | g.100408020T>A | CA414009227 | PCDH19 | c.578A>T (p.Glu193Val) | |
| X | g.100408020T>C | CA414009225 | PCDH19 | c.578A>G (p.Glu193Gly) | |
| X | g.100408020T>G | CA414009223 | PCDH19 | c.578A>C (p.Glu193Ala) | |
| X | g.100408020_100408021del | CA2695234732 | PCDH19 | c.577_578del (p.Glu193LysfsTer?) | |
| X | g.100408021C>A | CA414009230 | PCDH19 | c.577G>T (p.Glu193Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.100408021C>G | CA414009231 | PCDH19 | c.577G>C (p.Glu193Gln) | |
| X | g.100408021C>T | CA414009233 | PCDH19 | c.577G>A (p.Glu193Lys) | |
| X | g.100408022del | CA2695234733 | PCDH19 | c.577del (p.Glu193LysfsTer19) | |
| X | g.100408022C>A | CA517748232 | PCDH19 | c.576G>T (p.Val192=) | |
| X | g.100408022C>G | CA517748234 | PCDH19 | c.576G>C (p.Val192=) | |
| X | g.100408022C>T | CA517748236 | PCDH19 | c.576G>A (p.Val192=) | |
| X | g.100408023A>C | CA414009235 | PCDH19 | c.575T>G (p.Val192Gly) | |
| X | g.100408023A>G | CA414009237 | PCDH19 | c.575T>C (p.Val192Ala) | |
| X | g.100408023A>T | CA414009240 | PCDH19 | c.575T>A (p.Val192Glu) | |
| X | g.100408024C>A | CA414009242 | PCDH19 | c.574G>T (p.Val192Leu) | |
| X | g.100408024C= | CA2447976978 | PCDH19 | c.574G= (p.Val192=) | |
| X | g.100408024C>G | CA414009247 | PCDH19 | c.574G>C (p.Val192Leu) | |
| X | g.100408024C>T | CA414009244 | PCDH19 | c.574G>A (p.Val192Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408025C>A | CA517748242 | PCDH19 | c.573G>T (p.Val191=) | |
| X | g.100408025C= | CA2447976979 | PCDH19 | c.573G= (p.Val191=) | |
| X | g.100408025C>G | CA10468975 | PCDH19 | c.573G>C (p.Val191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408025C>T | CA517748247 | PCDH19 | c.573G>A (p.Val191=) | ClinVar gnomAD v4 |
| X | g.100408026A>C | CA414009251 | PCDH19 | c.572T>G (p.Val191Gly) | |
| X | g.100408026A>G | CA414009254 | PCDH19 | c.572T>C (p.Val191Ala) | |
| X | g.100408026A>T | CA414009255 | PCDH19 | c.572T>A (p.Val191Glu) | |
| X | g.100408027_100408029dup | CA16621149 | PCDH19 | c.570_572dup (p.Val191_Val192insVal) | ClinVar dbSNP |
| X | g.100408027C>A | CA414009257 | PCDH19 | c.571G>T (p.Val191Leu) | |
| X | g.100408027C= | CA2447976980 | PCDH19 | c.571G= (p.Val191=) | |
| X | g.100408027C>G | CA10468976 | PCDH19 | c.571G>C (p.Val191Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408027C>T | CA414009261 | PCDH19 | c.571G>A (p.Val191Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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 |