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.100408229G>A | CA333826100 | PCDH19 | c.369C>T (p.Asn123=) | dbSNP gnomAD v4 COSMIC |
| X | g.100408229G>C | CA414010286 | PCDH19 | c.369C>G (p.Asn123Lys) | ClinVar dbSNP |
| X | g.100408229G= | CA2447977069 | PCDH19 | c.369C= (p.Asn123=) | |
| X | g.100408229G>T | CA316287 | PCDH19 | c.369C>A (p.Asn123Lys) | ClinVar dbSNP |
| X | g.100408230T>A | CA414010289 | PCDH19 | c.368A>T (p.Asn123Ile) | |
| X | g.100408230T>C | CA414010291 | PCDH19 | c.368A>G (p.Asn123Ser) | |
| X | g.100408230T>G | CA414010295 | PCDH19 | c.368A>C (p.Asn123Thr) | |
| X | g.100408231T>A | CA414010300 | PCDH19 | c.367A>T (p.Asn123Tyr) | |
| X | g.100408231T>C | CA414010304 | PCDH19 | c.367A>G (p.Asn123Asp) | |
| X | g.100408231T>G | CA414010307 | PCDH19 | c.367A>C (p.Asn123His) | |
| X | g.100408232C>A | CA517748956 | PCDH19 | c.366G>T (p.Leu122=) | |
| X | g.100408232C>G | CA517748957 | PCDH19 | c.366G>C (p.Leu122=) | |
| X | g.100408232C>T | CA517748958 | PCDH19 | c.366G>A (p.Leu122=) | |
| X | g.100408233A>C | CA414010311 | PCDH19 | c.365T>G (p.Leu122Arg) | |
| X | g.100408233A>G | CA414010314 | PCDH19 | c.365T>C (p.Leu122Pro) | |
| X | g.100408233A>T | CA414010317 | PCDH19 | c.365T>A (p.Leu122Gln) | |
| X | g.100408234G>A | CA517748960 | PCDH19 | c.364C>T (p.Leu122=) | |
| X | g.100408234G>C | CA414010318 | PCDH19 | c.364C>G (p.Leu122Val) | |
| X | g.100408234G>T | CA414010319 | PCDH19 | c.364C>A (p.Leu122Met) | |
| X | g.100408235G>A | CA517748963 | PCDH19 | c.363C>T (p.Asp121=) | |
| X | g.100408235G>C | CA414010320 | PCDH19 | c.363C>G (p.Asp121Glu) | |
| X | g.100408235G>T | CA414010322 | PCDH19 | c.363C>A (p.Asp121Glu) | |
| X | g.100408236T>A | CA414010324 | PCDH19 | c.362A>T (p.Asp121Val) | |
| X | g.100408236T>C | CA414010330 | PCDH19 | c.362A>G (p.Asp121Gly) | |
| X | g.100408236T>G | CA414010327 | PCDH19 | c.362A>C (p.Asp121Ala) | ClinVar dbSNP |
| X | g.100408236T= | CA2447977070 | PCDH19 | c.362A= (p.Asp121=) | |
| X | g.100408237C>A | CA414010334 | PCDH19 | c.361G>T (p.Asp121Tyr) | |
| X | g.100408237C= | CA2447977071 | PCDH19 | c.361G= (p.Asp121=) | |
| X | g.100408237C>G | CA316284 | PCDH19 | c.361G>C (p.Asp121His) | ClinVar dbSNP |
| X | g.100408237C>T | CA414010340 | PCDH19 | c.361G>A (p.Asp121Asn) | ClinVar dbSNP |
| X | g.100408238C>A | CA414010345 | PCDH19 | c.360G>T (p.Lys120Asn) | ClinVar |
| X | g.100408238C= | CA2447977072 | PCDH19 | c.360G= (p.Lys120=) | |
| X | g.100408238C>G | CA414010347 | PCDH19 | c.360G>C (p.Lys120Asn) | ClinVar dbSNP |
| X | g.100408238C>T | CA517748965 | PCDH19 | c.360G>A (p.Lys120=) | |
| X | g.100408239T>A | CA414010349 | PCDH19 | c.359A>T (p.Lys120Met) | |
| X | g.100408239T>C | CA414010353 | PCDH19 | c.359A>G (p.Lys120Arg) | |
| X | g.100408239T>G | CA414010355 | PCDH19 | c.359A>C (p.Lys120Thr) | |
| X | g.100408240T>A | CA414010360 | PCDH19 | c.358A>T (p.Lys120Ter) | |
| X | g.100408240T>C | CA414010362 | PCDH19 | c.358A>G (p.Lys120Glu) | |
| X | g.100408240T>G | CA414010366 | PCDH19 | c.358A>C (p.Lys120Gln) | |
| X | g.100408241del | CA2695234743 | PCDH19 | c.357del (p.Lys120ArgfsTer3) | ClinVar |
| X | g.100408241G>A | CA517748968 | PCDH19 | c.357C>T (p.Ile119=) | |
| X | g.100408241G>C | CA414010368 | PCDH19 | c.357C>G (p.Ile119Met) | |
| X | g.100408241G>T | CA517748969 | PCDH19 | c.357C>A (p.Ile119=) | COSMIC |
| X | g.100408242A>C | CA414010378 | PCDH19 | c.356T>G (p.Ile119Ser) | |
| X | g.100408242A>G | CA414010374 | PCDH19 | c.356T>C (p.Ile119Thr) | |
| X | g.100408242A>T | CA414010376 | PCDH19 | c.356T>A (p.Ile119Asn) | |
| X | g.100408243T>A | CA414010381 | PCDH19 | c.355A>T (p.Ile119Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408243T>C | CA414010384 | PCDH19 | c.355A>G (p.Ile119Val) | |
| X | g.100408243T>G | CA414010390 | PCDH19 | c.355A>C (p.Ile119Leu) | |
| X | g.100408243T= | CA2447977073 | PCDH19 | c.355A= (p.Ile119=) | |
| X | g.100408243_100408259delinsACGA | CA2695234744 | PCDH19 | c.339_355delinsTCGT (p.Val114ArgfsTer5) | |
| X | g.100408244C>A | CA414010393 | PCDH19 | c.354G>T (p.Glu118Asp) | |
| X | g.100408244C>G | CA414010395 | PCDH19 | c.354G>C (p.Glu118Asp) | |
| X | g.100408244C>T | CA517748973 | PCDH19 | c.354G>A (p.Glu118=) | gnomAD v4 |
| X | g.100408245_100408247del | CA2695234745 | PCDH19 | c.352_354del (p.Glu118del) | |
| X | g.100408245T>A | CA414010400 | PCDH19 | c.353A>T (p.Glu118Val) | |
| X | g.100408245T>C | CA414010403 | PCDH19 | c.353A>G (p.Glu118Gly) | |
| X | g.100408245T>G | CA414010405 | PCDH19 | c.353A>C (p.Glu118Ala) | |
| X | g.100408246C>A | CA414010409 | PCDH19 | c.352G>T (p.Glu118Ter) | |
| X | g.100408246C>G | CA414010412 | PCDH19 | c.352G>C (p.Glu118Gln) | |
| X | g.100408246C>T | CA414010418 | PCDH19 | c.352G>A (p.Glu118Lys) | |
| X | g.100408247C>A | CA517748975 | PCDH19 | c.351G>T (p.Val117=) | |
| X | g.100408247C>G | CA517748977 | PCDH19 | c.351G>C (p.Val117=) | |
| X | g.100408247C>T | CA517748974 | PCDH19 | c.351G>A (p.Val117=) | |
| X | g.100408248A>C | CA414010430 | PCDH19 | c.350T>G (p.Val117Gly) | |
| X | g.100408248A>G | CA414010427 | PCDH19 | c.350T>C (p.Val117Ala) | |
| X | g.100408248A>T | CA414010422 | PCDH19 | c.350T>A (p.Val117Glu) | |
| X | g.100408249C>A | CA414010434 | PCDH19 | c.349G>T (p.Val117Leu) | |
| X | g.100408249C>G | CA414010437 | PCDH19 | c.349G>C (p.Val117Leu) | |
| X | g.100408249C>T | CA414010440 | PCDH19 | c.349G>A (p.Val117Met) | gnomAD v4 |
| X | g.100408250C>A | CA414010443 | PCDH19 | c.348G>T (p.Lys116Asn) | |
| X | g.100408250C= | CA2447977074 | PCDH19 | c.348G= (p.Lys116=) | |
| X | g.100408250C>G | CA414010446 | PCDH19 | c.348G>C (p.Lys116Asn) | |
| X | g.100408250C>T | CA10468995 | PCDH19 | c.348G>A (p.Lys116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408251T>A | CA414010459 | PCDH19 | c.347A>T (p.Lys116Met) | |
| X | g.100408251T>C | CA414010456 | PCDH19 | c.347A>G (p.Lys116Arg) | gnomAD v4 |
| X | g.100408251T>G | CA414010453 | PCDH19 | c.347A>C (p.Lys116Thr) | |
| X | g.100408252T>A | CA414010463 | PCDH19 | c.346A>T (p.Lys116Ter) | |
| X | g.100408252T>C | CA414010466 | PCDH19 | c.346A>G (p.Lys116Glu) | |
| X | g.100408252T>G | CA414010468 | PCDH19 | c.346A>C (p.Lys116Gln) | |
| X | g.100408253T>A | CA517748979 | PCDH19 | c.345A>T (p.Ile115=) | |
| X | g.100408253T>C | CA414010472 | PCDH19 | c.345A>G (p.Ile115Met) | |
| X | g.100408253T>G | CA517748980 | PCDH19 | c.345A>C (p.Ile115=) | |
| X | g.100408254_100408255del | CA2580100085 | PCDH19 | c.344_345del (p.Ile115LysfsTer?) | ClinVar |
| X | g.100408254A= | CA2447977075 | PCDH19 | c.344T= (p.Ile115=) | |
| X | g.100408254A>C | CA414010477 | PCDH19 | c.344T>G (p.Ile115Arg) | |
| X | g.100408254A>G | CA414010480 | PCDH19 | c.344T>C (p.Ile115Thr) | |
| X | g.100408254A>T | CA414010483 | PCDH19 | c.344T>A (p.Ile115Lys) | ClinVar dbSNP |
| X | g.100408254dup | CA2695234746 | PCDH19 | c.344dup (p.Val117GlyfsTer?) | |
| X | g.100408255T>A | CA414010486 | PCDH19 | c.343A>T (p.Ile115Leu) | |
| X | g.100408255T>C | CA414010492 | PCDH19 | c.343A>G (p.Ile115Val) | |
| X | g.100408255T>G | CA414010490 | PCDH19 | c.343A>C (p.Ile115Leu) | |
| X | g.100408256C>A | CA517748982 | PCDH19 | c.342G>T (p.Val114=) | |
| X | g.100408256C>G | CA517748983 | PCDH19 | c.342G>C (p.Val114=) | |
| X | g.100408256C>T | CA517748984 | PCDH19 | c.342G>A (p.Val114=) | gnomAD v4 |
| X | g.100408257A= | CA2447977076 | PCDH19 | c.341T= (p.Val114=) | |
| X | g.100408257A>C | CA414010495 | PCDH19 | c.341T>G (p.Val114Gly) | |
| X | g.100408257A>G | CA414010498 | PCDH19 | c.341T>C (p.Val114Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408257A>T | CA414010502 | PCDH19 | c.341T>A (p.Val114Glu) | |
| X | g.100408258C>A | CA414010505 | PCDH19 | c.340G>T (p.Val114Leu) | |
| X | g.100408258C= | CA2447977077 | PCDH19 | c.340G= (p.Val114=) | |
| X | g.100408258C>G | CA10468996 | PCDH19 | c.340G>C (p.Val114Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408258C>T | CA414010513 | PCDH19 | c.340G>A (p.Val114Met) | ClinVar gnomAD v4 COSMIC |
| X | g.100408259G>A | CA10468997 | PCDH19 | c.339C>T (p.Cys113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408259G>C | CA333826101 | PCDH19 | c.339C>G (p.Cys113Trp) | dbSNP |
| X | g.100408259G= | CA2447977078 | PCDH19 | c.339C= (p.Cys113=) | |
| X | g.100408259G>T | CA414010520 | PCDH19 | c.339C>A (p.Cys113Ter) | |
| X | g.100408259dup | CA2695234747 | PCDH19 | c.339dup (p.Val114ArgfsTer?) | |
| X | g.100408260C>A | CA414010524 | PCDH19 | c.338G>T (p.Cys113Phe) | |
| X | g.100408260C>G | CA414010526 | PCDH19 | c.338G>C (p.Cys113Ser) | |
| X | g.100408260C>T | CA414010528 | PCDH19 | c.338G>A (p.Cys113Tyr) | |
| X | g.100408261A>C | CA414010533 | PCDH19 | c.337T>G (p.Cys113Gly) | |
| X | g.100408261A>G | CA414010539 | PCDH19 | c.337T>C (p.Cys113Arg) | |
| X | g.100408261A>T | CA414010535 | PCDH19 | c.337T>A (p.Cys113Ser) | |
| X | g.100408262G>A | CA517748993 | PCDH19 | c.336C>T (p.Ile112=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408262G>C | CA414010543 | PCDH19 | c.336C>G (p.Ile112Met) | |
| X | g.100408262G= | CA2447977079 | PCDH19 | c.336C= (p.Ile112=) | |
| X | g.100408262G>T | CA517748992 | PCDH19 | c.336C>A (p.Ile112=) | |
| X | g.100408263A>C | CA414010547 | PCDH19 | c.335T>G (p.Ile112Ser) | ClinVar dbSNP |
| X | g.100408263A>G | CA414010550 | PCDH19 | c.335T>C (p.Ile112Thr) | |
| X | g.100408263A>T | CA414010553 | PCDH19 | c.335T>A (p.Ile112Asn) | ClinVar dbSNP |
| X | g.100408264T>A | CA414010558 | PCDH19 | c.334A>T (p.Ile112Phe) | |
| X | g.100408264T>C | CA414010561 | PCDH19 | c.334A>G (p.Ile112Val) | gnomAD v4 |
| X | g.100408264T>G | CA414010563 | PCDH19 | c.334A>C (p.Ile112Leu) | |
| X | g.100408265T>A | CA414010567 | PCDH19 | c.333A>T (p.Glu111Asp) | |
| X | g.100408265T>C | CA517748997 | PCDH19 | c.333A>G (p.Glu111=) | |
| X | g.100408265T>G | CA414010569 | PCDH19 | c.333A>C (p.Glu111Asp) | |
| X | g.100408266T>A | CA414010572 | PCDH19 | c.332A>T (p.Glu111Val) | |
| X | g.100408266T>C | CA414010573 | PCDH19 | c.332A>G (p.Glu111Gly) | |
| X | g.100408266T>G | CA414010576 | PCDH19 | c.332A>C (p.Glu111Ala) | |
| X | g.100408267C>A | CA414010586 | PCDH19 | c.331G>T (p.Glu111Ter) | |
| X | g.100408267C>G | CA414010583 | PCDH19 | c.331G>C (p.Glu111Gln) | |
| X | g.100408267C>T | CA414010580 | PCDH19 | c.331G>A (p.Glu111Lys) | gnomAD v4 COSMIC |
| X | g.100408268C>A | CA414010591 | PCDH19 | c.330G>T (p.Met110Ile) | |
| X | g.100408268C>G | CA414010592 | PCDH19 | c.330G>C (p.Met110Ile) | |
| X | g.100408268C>T | CA414010602 | PCDH19 | c.330G>A (p.Met110Ile) | ClinVar COSMIC |
| X | g.100408269A>C | CA414010607 | PCDH19 | c.329T>G (p.Met110Arg) | |
| X | g.100408269A>G | CA414010610 | PCDH19 | c.329T>C (p.Met110Thr) | |
| X | g.100408269A>T | CA414010613 | PCDH19 | c.329T>A (p.Met110Lys) | COSMIC |
| X | g.100408270T>A | CA414010618 | PCDH19 | c.328A>T (p.Met110Leu) | |
| X | g.100408270T>C | CA16603275 | PCDH19 | c.328A>G (p.Met110Val) | ClinVar dbSNP gnomAD v4 |
| X | g.100408270T>G | CA414010622 | PCDH19 | c.328A>C (p.Met110Leu) | |
| X | g.100408270T= | CA2447977080 | PCDH19 | c.328A= (p.Met110=) | |
| X | g.100408271T>A | CA517748318 | PCDH19 | c.327A>T (p.Ser109=) | |
| X | g.100408271T>C | CA517748319 | PCDH19 | c.327A>G (p.Ser109=) | gnomAD v4 |
| X | g.100408271T>G | CA517748320 | PCDH19 | c.327A>C (p.Ser109=) | gnomAD v4 |
| X | g.100408272G>A | CA414010623 | PCDH19 | c.326C>T (p.Ser109Leu) | |
| X | g.100408272G>C | CA414010624 | PCDH19 | c.326C>G (p.Ser109Ter) | |
| X | g.100408272G>T | CA414010626 | PCDH19 | c.326C>A (p.Ser109Ter) | |
| X | g.100408273A>C | CA414010629 | PCDH19 | c.325T>G (p.Ser109Ala) | |
| X | g.100408273A>G | CA414010634 | PCDH19 | c.325T>C (p.Ser109Pro) | |
| X | g.100408273A>T | CA414010632 | PCDH19 | c.325T>A (p.Ser109Thr) | |
| X | g.100408274G>A | CA517748327 | PCDH19 | c.324C>T (p.Ser108=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408274G>C | CA414010639 | PCDH19 | c.324C>G (p.Ser108Arg) | |
| X | g.100408274G= | CA2447977081 | PCDH19 | c.324C= (p.Ser108=) | |
| X | g.100408274G>T | CA414010641 | PCDH19 | c.324C>A (p.Ser108Arg) | |
| X | g.100408275C>A | CA414010646 | PCDH19 | c.323G>T (p.Ser108Ile) | |
| X | g.100408275C= | CA2447977082 | PCDH19 | c.323G= (p.Ser108=) | |
| X | g.100408275C>G | CA414010649 | PCDH19 | c.323G>C (p.Ser108Thr) | |
| X | g.100408275C>T | CA414010651 | PCDH19 | c.323G>A (p.Ser108Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408276T>A | CA414010656 | PCDH19 | c.322A>T (p.Ser108Cys) | |
| X | g.100408276T>C | CA414010662 | PCDH19 | c.322A>G (p.Ser108Gly) | |
| X | g.100408276T>G | CA414010670 | PCDH19 | c.322A>C (p.Ser108Arg) | gnomAD v4 |
| X | g.100408277G>A | CA10468998 | PCDH19 | c.321C>T (p.Ser107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408277G>C | CA517748335 | PCDH19 | c.321C>G (p.Ser107=) | |
| X | g.100408277G= | CA2447977083 | PCDH19 | c.321C= (p.Ser107=) | |
| X | g.100408277G>T | CA517748337 | PCDH19 | c.321C>A (p.Ser107=) | |
| X | g.100408278G>A | CA414010678 | PCDH19 | c.320C>T (p.Ser107Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408278G>C | CA414010680 | PCDH19 | c.320C>G (p.Ser107Cys) | |
| X | g.100408278G= | CA2447977084 | PCDH19 | c.320C= (p.Ser107=) | |
| X | g.100408278G>T | CA414010682 | PCDH19 | c.320C>A (p.Ser107Tyr) | |
| X | g.100408279A>C | CA414010692 | PCDH19 | c.319T>G (p.Ser107Ala) | |
| X | g.100408279A>G | CA414010690 | PCDH19 | c.319T>C (p.Ser107Pro) | |
| X | g.100408279A>T | CA414010686 | PCDH19 | c.319T>A (p.Ser107Thr) | |
| X | g.100408280C>A | CA414010697 | PCDH19 | c.318G>T (p.Met106Ile) | |
| X | g.100408280C= | CA2447977085 | PCDH19 | c.318G= (p.Met106=) | |
| X | g.100408280C>G | CA414010701 | PCDH19 | c.318G>C (p.Met106Ile) | |
| X | g.100408280C>T | CA10468999 | PCDH19 | c.318G>A (p.Met106Ile) | dbSNP ExAC gnomAD v4 |
| X | g.100408281A>C | CA414010704 | PCDH19 | c.317T>G (p.Met106Arg) | |
| X | g.100408281A>G | CA414010705 | PCDH19 | c.317T>C (p.Met106Thr) | |
| X | g.100408281A>T | CA414010708 | PCDH19 | c.317T>A (p.Met106Lys) | ClinVar |
| X | g.100408282T>A | CA414010713 | PCDH19 | c.316A>T (p.Met106Leu) | |
| X | g.100408282T>C | CA333826102 | PCDH19 | c.316A>G (p.Met106Val) | dbSNP |
| X | g.100408282T>G | CA414010718 | PCDH19 | c.316A>C (p.Met106Leu) | |
| X | g.100408282T= | CA2447977086 | PCDH19 | c.316A= (p.Met106=) | |
| X | g.100408283G>A | CA517748354 | PCDH19 | c.315C>T (p.Val105=) | ClinVar dbSNP gnomAD v4 |
| X | g.100408283G>C | CA517748355 | PCDH19 | c.315C>G (p.Val105=) | |
| X | g.100408283G= | CA2447977087 | PCDH19 | c.315C= (p.Val105=) | |
| X | g.100408283G>T | CA517748356 | PCDH19 | c.315C>A (p.Val105=) | |
| X | g.100408284A>C | CA414010723 | PCDH19 | c.314T>G (p.Val105Gly) | |
| X | g.100408284A>G | CA414010724 | PCDH19 | c.314T>C (p.Val105Ala) | |
| X | g.100408284A>T | CA414010726 | PCDH19 | c.314T>A (p.Val105Asp) | |
| X | g.100408285C>A | CA414010728 | PCDH19 | c.313G>T (p.Val105Phe) | |
| X | g.100408285C= | CA2447977088 | PCDH19 | c.313G= (p.Val105=) | |
| X | g.100408285C>G | CA414010729 | PCDH19 | c.313G>C (p.Val105Leu) | gnomAD v4 |
| X | g.100408285C>T | CA10469000 | PCDH19 | c.313G>A (p.Val105Ile) | dbSNP ExAC gnomAD v4 |
| X | g.100408286C>A | CA414010730 | PCDH19 | c.312G>T (p.Glu104Asp) | |
| X | g.100408286C= | CA2447977089 | PCDH19 | c.312G= (p.Glu104=) | |
| X | g.100408286C>G | CA414010731 | PCDH19 | c.312G>C (p.Glu104Asp) | |
| X | g.100408286C>T | CA517748363 | PCDH19 | c.312G>A (p.Glu104=) | |
| X | g.100408287T>A | CA414010734 | PCDH19 | c.311A>T (p.Glu104Val) | |
| X | g.100408287T>C | CA414010736 | PCDH19 | c.311A>G (p.Glu104Gly) | |
| X | g.100408287T>G | CA414010737 | PCDH19 | c.311A>C (p.Glu104Ala) | |
| X | g.100408287dup | CA658799827 | PCDH19 | c.311dup (p.Val105GlyfsTer?) | ClinVar dbSNP |
| X | g.100408288C>A | CA414010744 | PCDH19 | c.310G>T (p.Glu104Ter) | |
| X | g.100408288C>G | CA414010742 | PCDH19 | c.310G>C (p.Glu104Gln) | |
| X | g.100408288C>T | CA414010740 | PCDH19 | c.310G>A (p.Glu104Lys) | COSMIC |
| X | g.100408289G>A | CA517748370 | PCDH19 | c.309C>T (p.Leu103=) | ClinVar gnomAD v4 COSMIC |
| X | g.100408289G>C | CA16608695 | PCDH19 | c.309C>G (p.Leu103=) | ClinVar dbSNP |
| X | g.100408289G= | CA2447977090 | PCDH19 | c.309C= (p.Leu103=) | |
| X | g.100408289G>T | CA517748367 | PCDH19 | c.309C>A (p.Leu103=) | |
| X | g.100408290A>C | CA414010747 | PCDH19 | c.308T>G (p.Leu103Arg) | |
| X | g.100408290A>G | CA414010748 | PCDH19 | c.308T>C (p.Leu103Pro) | |
| X | g.100408290A>T | CA414010749 | PCDH19 | c.308T>A (p.Leu103His) | |
| X | g.100408291G>A | CA414010751 | PCDH19 | c.307C>T (p.Leu103Phe) | |
| X | g.100408291G>C | CA414010754 | PCDH19 | c.307C>G (p.Leu103Val) | |
| X | g.100408291G>T | CA414010755 | PCDH19 | c.307C>A (p.Leu103Ile) | |
| X | g.100408292C>A | CA517748375 | PCDH19 | c.306G>T (p.Ser102=) | |
| X | g.100408292C>G | CA517748376 | PCDH19 | c.306G>C (p.Ser102=) | gnomAD v4 |
| X | g.100408292C>T | CA517748378 | PCDH19 | c.306G>A (p.Ser102=) | |
| X | g.100408293G>A | CA414010757 | PCDH19 | c.305C>T (p.Ser102Leu) | COSMIC |
| X | g.100408293G>C | CA414010761 | PCDH19 | c.305C>G (p.Ser102Trp) | |
| X | g.100408293G>T | CA414010759 | PCDH19 | c.305C>A (p.Ser102Ter) | gnomAD v4 |
| X | g.100408294A>C | CA414010762 | PCDH19 | c.304T>G (p.Ser102Ala) | |
| X | g.100408294A>G | CA414010763 | PCDH19 | c.304T>C (p.Ser102Pro) | |
| X | g.100408294A>T | CA414010764 | PCDH19 | c.304T>A (p.Ser102Thr) | |
| X | g.100408294_100408297delinsAGAT | CA2447977091 | PCDH19 | c.301_304delinsATCT (p.Ile101=) | |
| X | g.100408295G>A | CA517748383 | PCDH19 | c.303C>T (p.Ile101=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408295G>C | CA414010765 | PCDH19 | c.303C>G (p.Ile101Met) | |
| X | g.100408295G= | CA2447977092 | PCDH19 | c.303C= (p.Ile101=) | |
| X | g.100408295G>T | CA517748385 | PCDH19 | c.303C>A (p.Ile101=) | |
| X | g.100408299_100408301del | CA316396 | PCDH19 | c.301_303del (p.Ile101del) | ClinVar dbSNP |
| X | g.100408296A>C | CA414010768 | PCDH19 | c.302T>G (p.Ile101Ser) | |
| X | g.100408296A>G | CA414010770 | PCDH19 | c.302T>C (p.Ile101Thr) | |
| X | g.100408296A>T | CA414010771 | PCDH19 | c.302T>A (p.Ile101Asn) | |
| X | g.100408297T>A | CA414010774 | PCDH19 | c.301A>T (p.Ile101Phe) | |
| X | g.100408297T>C | CA238705 | PCDH19 | c.301A>G (p.Ile101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408297T>G | CA414010776 | PCDH19 | c.301A>C (p.Ile101Leu) | |
| X | g.100408297T= | CA2447977093 | PCDH19 | c.301A= (p.Ile101=) | |
| X | g.100408297_100408298del | CA2573159047 | PCDH19 | c.300_301del (p.Ile101LeufsTer?) | ClinVar dbSNP |
| X | g.100408298G>A | CA517748393 | PCDH19 | c.300C>T (p.Ile100=) | |
| X | g.100408298G>C | CA414010779 | PCDH19 | c.300C>G (p.Ile100Met) | |
| X | g.100408298G>T | CA517748396 | PCDH19 | c.300C>A (p.Ile100=) | gnomAD v4 |
| X | g.100408299A>C | CA414010782 | PCDH19 | c.299T>G (p.Ile100Ser) | |
| X | g.100408299A>G | CA414010785 | PCDH19 | c.299T>C (p.Ile100Thr) | |
| X | g.100408299A>T | CA414010780 | PCDH19 | c.299T>A (p.Ile100Asn) | |
| X | g.100408300T>A | CA316415 | PCDH19 | c.298A>T (p.Ile100Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408300T>C | CA414010791 | PCDH19 | c.298A>G (p.Ile100Val) | gnomAD v4 |
| X | g.100408300T>G | CA414010792 | PCDH19 | c.298A>C (p.Ile100Leu) | |
| X | g.100408300T= | CA2447977094 | PCDH19 | c.298A= (p.Ile100=) | |
| X | g.100408301G>A | CA10469001 | PCDH19 | c.297C>T (p.Cys99=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408301G>C | CA414010797 | PCDH19 | c.297C>G (p.Cys99Trp) | |
| X | g.100408301G= | CA2447977095 | PCDH19 | c.297C= (p.Cys99=) | |
| X | g.100408301G>T | CA414010800 | PCDH19 | c.297C>A (p.Cys99Ter) | |
| X | g.100408302C>A | CA414010806 | PCDH19 | c.296G>T (p.Cys99Phe) | |
| X | g.100408302C>G | CA414010804 | PCDH19 | c.296G>C (p.Cys99Ser) | |
| X | g.100408302C>T | CA414010805 | PCDH19 | c.296G>A (p.Cys99Tyr) | ClinVar dbSNP |
| X | g.100408303A= | CA2447977096 | PCDH19 | c.295T= (p.Cys99=) | |
| X | g.100408303A>C | CA414010807 | PCDH19 | c.295T>G (p.Cys99Gly) | |
| X | g.100408303A>G | CA414010808 | PCDH19 | c.295T>C (p.Cys99Arg) | |
| X | g.100408303A>T | CA16621150 | PCDH19 | c.295T>A (p.Cys99Ser) | ClinVar dbSNP |
| X | g.100408304C>A | CA414010809 | PCDH19 | c.294G>T (p.Lys98Asn) | |
| X | g.100408304C>G | CA414010810 | PCDH19 | c.294G>C (p.Lys98Asn) | |
| X | g.100408304C>T | CA517748412 | PCDH19 | c.294G>A (p.Lys98=) | |
| X | g.100408305T>A | CA414010822 | PCDH19 | c.293A>T (p.Lys98Met) | |
| X | g.100408305T>C | CA414010811 | PCDH19 | c.293A>G (p.Lys98Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408305T>G | CA414010814 | PCDH19 | c.293A>C (p.Lys98Thr) | |
| X | g.100408305T= | CA2447977097 | PCDH19 | c.293A= (p.Lys98=) | |
| X | g.100408305_100408338delinsTTGGGGCTCTGGCGGCACAGCAGATCACGGTCAA | CA2447977098 | PCDH19 | c.260_293delinsTTGACCGTGATCTGCTGTGCCGCCAGAGCCCCAA (p.Ile87=) | |
| X | g.100408306T>A | CA414010827 | PCDH19 | c.292A>T (p.Lys98Ter) | |
| X | g.100408306T>C | CA414010830 | PCDH19 | c.292A>G (p.Lys98Glu) | |
| X | g.100408306T>G | CA333826103 | PCDH19 | c.292A>C (p.Lys98Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408306T= | CA2447977099 | PCDH19 | c.292A= (p.Lys98=) | |
| X | g.100408307_100408339del | CA915951277 | PCDH19 | c.260_292del (p.Ile87_Pro97del) | ClinVar dbSNP |
| X | g.100408307G>A | CA517748421 | PCDH19 | c.291C>T (p.Pro97=) | |
| X | g.100408307G>C | CA517748423 | PCDH19 | c.291C>G (p.Pro97=) | |
| X | g.100408307G= | CA2447977100 | PCDH19 | c.291C= (p.Pro97=) | |
| X | g.100408307G>T | CA333826104 | PCDH19 | c.291C>A (p.Pro97=) | dbSNP |
| X | g.100408310dup | CA2499226261 | PCDH19 | c.291dup (p.Lys98GlnfsTer?) | ClinVar dbSNP |
| X | g.100408308G>A | CA414010833 | PCDH19 | c.290C>T (p.Pro97Leu) | ClinVar gnomAD v4 |
| X | g.100408308G>C | CA414010834 | PCDH19 | c.290C>G (p.Pro97Arg) | |
| X | g.100408308G>T | CA414010835 | PCDH19 | c.290C>A (p.Pro97His) | |
| X | g.100408309G>A | CA414010841 | PCDH19 | c.289C>T (p.Pro97Ser) | |
| X | g.100408309G>C | CA414010837 | PCDH19 | c.289C>G (p.Pro97Ala) | |
| X | g.100408309G>T | CA414010839 | PCDH19 | c.289C>A (p.Pro97Thr) | |
| X | g.100408310G>A | CA517748430 | PCDH19 | c.288C>T (p.Ser96=) | |
| X | g.100408310G>C | CA414010844 | PCDH19 | c.288C>G (p.Ser96Arg) | |
| X | g.100408310G>T | CA414010849 | PCDH19 | c.288C>A (p.Ser96Arg) | |
| X | g.100408311C>A | CA414010850 | PCDH19 | c.287G>T (p.Ser96Ile) | |
| X | g.100408311C>G | CA414010851 | PCDH19 | c.287G>C (p.Ser96Thr) | |
| X | g.100408311C>T | CA414010853 | PCDH19 | c.287G>A (p.Ser96Asn) | |
| X | g.100408312T>A | CA414010856 | PCDH19 | c.286A>T (p.Ser96Cys) | |
| X | g.100408312T>C | CA414010860 | PCDH19 | c.286A>G (p.Ser96Gly) | |
| X | g.100408312T>G | CA414010858 | PCDH19 | c.286A>C (p.Ser96Arg) | |
| X | g.100408313C>A | CA414010862 | PCDH19 | c.285G>T (p.Gln95His) | |
| X | g.100408313C>G | CA414010864 | PCDH19 | c.285G>C (p.Gln95His) | |
| X | g.100408313C>T | CA517748440 | PCDH19 | c.285G>A (p.Gln95=) | |
| X | g.100408314T>A | CA414010866 | PCDH19 | c.284A>T (p.Gln95Leu) | |
| X | g.100408314T>C | CA10469002 | PCDH19 | c.284A>G (p.Gln95Arg) | dbSNP ExAC |
| X | g.100408314T>G | CA414010868 | PCDH19 | c.284A>C (p.Gln95Pro) | |
| X | g.100408314T= | CA2447977101 | PCDH19 | c.284A= (p.Gln95=) | |
| X | g.100408315G>A | CA414010869 | PCDH19 | c.283C>T (p.Gln95Ter) | |
| X | g.100408315G>C | CA414010870 | PCDH19 | c.283C>G (p.Gln95Glu) | |
| X | g.100408315G>T | CA414010872 | PCDH19 | c.283C>A (p.Gln95Lys) | |
| X | g.100408316G>A | CA517748450 | PCDH19 | c.282C>T (p.Arg94=) | COSMIC |
| X | g.100408316G>C | CA517748453 | PCDH19 | c.282C>G (p.Arg94=) | |
| X | g.100408316G>T | CA517748452 | PCDH19 | c.282C>A (p.Arg94=) | |
| X | g.100408317C>A | CA414010874 | PCDH19 | c.281G>T (p.Arg94Leu) | |
| X | g.100408317C= | CA2447977102 | PCDH19 | c.281G= (p.Arg94=) | |
| X | g.100408317C>G | CA414010876 | PCDH19 | c.281G>C (p.Arg94Pro) | |
| X | g.100408317C>T | CA10469003 | PCDH19 | c.281G>A (p.Arg94His) | dbSNP ExAC gnomAD v2 |
| X | g.100408318G>A | CA414010880 | PCDH19 | c.280C>T (p.Arg94Cys) | gnomAD v4 |
| X | g.100408318G>C | CA414010882 | PCDH19 | c.280C>G (p.Arg94Gly) | |
| X | g.100408318G>T | CA414010885 | PCDH19 | c.280C>A (p.Arg94Ser) | gnomAD v4 |
| X | g.100408319G>A | CA517748458 | PCDH19 | c.279C>T (p.Cys93=) | |
| X | g.100408319G>C | CA414010887 | PCDH19 | c.279C>G (p.Cys93Trp) | |
| X | g.100408319G>T | CA414010889 | PCDH19 | c.279C>A (p.Cys93Ter) | |
| X | g.100408320C>A | CA414010892 | PCDH19 | c.278G>T (p.Cys93Phe) | |
| X | g.100408320C>G | CA414010895 | PCDH19 | c.278G>C (p.Cys93Ser) | |
| X | g.100408320C>T | CA414010897 | PCDH19 | c.278G>A (p.Cys93Tyr) | |
| X | g.100408321A>C | CA414010900 | PCDH19 | c.277T>G (p.Cys93Gly) | |
| X | g.100408321A>G | CA414010901 | PCDH19 | c.277T>C (p.Cys93Arg) | COSMIC |
| X | g.100408321A>T | CA414010903 | PCDH19 | c.277T>A (p.Cys93Ser) | |
| X | g.100408321_100408324delinsACAG | CA2447977103 | PCDH19 | c.274_277delinsCTGT (p.Leu92=) | |
| X | g.100408322C>A | CA517748469 | PCDH19 | c.276G>T (p.Leu92=) | COSMIC |
| X | g.100408322C= | CA2447977104 | PCDH19 | c.276G= (p.Leu92=) | |
| X | g.100408322C>G | CA517748470 | PCDH19 | c.276G>C (p.Leu92=) | COSMIC |
| X | g.100408322C>T | CA517748471 | PCDH19 | c.276G>A (p.Leu92=) | dbSNP gnomAD v4 |
| X | g.100408325_100408327del | CA234494 | PCDH19 | c.274_276del (p.Leu92del) | ClinVar dbSNP |
| X | g.100408323A>C | CA414010907 | PCDH19 | c.275T>G (p.Leu92Arg) | |
| X | g.100408323A>G | CA414010909 | PCDH19 | c.275T>C (p.Leu92Pro) | |
| X | g.100408323A>T | CA414010910 | PCDH19 | c.275T>A (p.Leu92Gln) | |
| X | g.100408324G>A | CA517748479 | PCDH19 | c.274C>T (p.Leu92=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408324G>C | CA414010913 | PCDH19 | c.274C>G (p.Leu92Val) | |
| X | g.100408324G= | CA2447977105 | PCDH19 | c.274C= (p.Leu92=) | |
| X | g.100408324G>T | CA414010915 | PCDH19 | c.274C>A (p.Leu92Met) | |
| X | g.100408324dup | CA2573055043 | PCDH19 | c.274dup (p.Leu92ProfsTer?) | ClinVar dbSNP |
| X | g.100408325C>A | CA517748485 | PCDH19 | c.273G>T (p.Leu91=) | |
| X | g.100408325C>G | CA517748484 | PCDH19 | c.273G>C (p.Leu91=) | |
| X | g.100408325C>T | CA517748482 | PCDH19 | c.273G>A (p.Leu91=) | |
| X | g.100408326A>C | CA414010921 | PCDH19 | c.272T>G (p.Leu91Arg) | |
| X | g.100408326A>G | CA414010918 | PCDH19 | c.272T>C (p.Leu91Pro) | |
| X | g.100408326A>T | CA414010920 | PCDH19 | c.272T>A (p.Leu91Gln) | |
| X | g.100408327G>A | CA517748493 | PCDH19 | c.271C>T (p.Leu91=) | |
| X | g.100408327G>C | CA414010923 | PCDH19 | c.271C>G (p.Leu91Val) | |
| X | g.100408327G= | CA2447977106 | PCDH19 | c.271C= (p.Leu91=) | |
| X | g.100408327G>T | CA10469004 | PCDH19 | c.271C>A (p.Leu91Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408328A= | CA2447977107 | PCDH19 | c.270T= (p.Asp90=) | |
| X | g.100408328A>C | CA414010927 | PCDH19 | c.270T>G (p.Asp90Glu) | |
| X | g.100408328A>G | CA517748495 | PCDH19 | c.270T>C (p.Asp90=) | dbSNP |
| X | g.100408328A>T | CA414010929 | PCDH19 | c.270T>A (p.Asp90Glu) | |
| X | g.100408329T>A | CA414010931 | PCDH19 | c.269A>T (p.Asp90Val) | |
| X | g.100408329T>C | CA414010933 | PCDH19 | c.269A>G (p.Asp90Gly) | ClinVar dbSNP |
| X | g.100408329T>G | CA414010936 | PCDH19 | c.269A>C (p.Asp90Ala) |