| X | g.100407898_100407900del | CA2447976910 | PCDH19 | c.703_705del (p.Asn235del)
| ClinVar dbSNP |
| X | g.100407898_100407901delinsGTTA | CA2695234727 | PCDH19 | c.697_700delinsTAAC (p.Asp233Ter)
| |
| 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=)
| |
| X | g.100407938G>A | CA10468964 | PCDH19 | c.660C>T (p.Gly220=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.100407938G>C | CA517748618 | PCDH19 | c.660C>G (p.Gly220=)
| |
| X | g.100407938G= | CA2447976931 | PCDH19 | c.660C= (p.Gly220=)
| |
| X | g.100407938G>T | CA517748620 | PCDH19 | c.660C>A (p.Gly220=)
| gnomAD v4 COSMIC |
| X | g.100407938_100407939delinsGC | CA2447976932 | PCDH19 | c.659_660delinsGC (p.Gly220=)
| |
| X | g.100407939C>A | CA414008805 | PCDH19 | c.659G>T (p.Gly220Val)
| gnomAD v4 |
| X | g.100407939C>G | CA414008807 | PCDH19 | c.659G>C (p.Gly220Ala)
| |
| X | g.100407939C>T | CA414008809 | PCDH19 | c.659G>A (p.Gly220Asp)
| gnomAD v4 COSMIC |
| X | g.100407941del | CA1139667692 | PCDH19 | c.659del (p.Gly220AlafsTer9)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407940C>A | CA414008812 | PCDH19 | c.658G>T (p.Gly220Cys)
| COSMIC |
| X | g.100407940C>G | CA414008814 | PCDH19 | c.658G>C (p.Gly220Arg)
| |
| X | g.100407940C>T | CA414008816 | PCDH19 | c.658G>A (p.Gly220Ser)
| |
| X | g.100407941C>A | CA517748627 | PCDH19 | c.657G>T (p.Leu219=)
| dbSNP gnomAD v4 |
| X | g.100407941C= | CA2447976933 | PCDH19 | c.657G= (p.Leu219=)
| |
| X | g.100407941C>G | CA517748629 | PCDH19 | c.657G>C (p.Leu219=)
| |
| X | g.100407941C>T | CA517748626 | PCDH19 | c.657G>A (p.Leu219=)
| |
| X | g.100407942A>C | CA414008819 | PCDH19 | c.656T>G (p.Leu219Arg)
| gnomAD v4 |
| X | g.100407942A>G | CA414008823 | PCDH19 | c.656T>C (p.Leu219Pro)
| |
| X | g.100407942A>T | CA414008821 | PCDH19 | c.656T>A (p.Leu219Gln)
| |
| X | g.100407942_100407952delinsAGGCGCGGCGG | CA2447976934 | PCDH19 | c.646_656delinsCCGCCGCGCCT (p.Pro216=)
| |
| X | g.100407943G>A | CA285470 | PCDH19 | c.655C>T (p.Leu219=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407943G>C | CA414008827 | PCDH19 | c.655C>G (p.Leu219Val)
| |
| X | g.100407943G= | CA2447976935 | PCDH19 | c.655C= (p.Leu219=)
| |
| X | g.100407943G>T | CA414008829 | PCDH19 | c.655C>A (p.Leu219Met)
| gnomAD v4 |
| X | g.100407944_100407953del | CA10588730 | PCDH19 | c.646_655del (p.Pro216TrpfsTer10)
| ClinVar dbSNP |
| X | g.100407944G>A | CA333826089 | PCDH19 | c.654C>T (p.Arg218=)
| dbSNP gnomAD v4 |
| X | g.100407944G>C | CA517748641 | PCDH19 | c.654C>G (p.Arg218=)
| |
| X | g.100407944G= | CA2447976936 | PCDH19 | c.654C= (p.Arg218=)
| |
| X | g.100407944G>T | CA517748642 | PCDH19 | c.654C>A (p.Arg218=)
| gnomAD v4 |
| X | g.100407945C>A | CA414008836 | PCDH19 | c.653G>T (p.Arg218Leu)
| |
| X | g.100407945C= | CA2447976937 | PCDH19 | c.653G= (p.Arg218=)
| |
| X | g.100407945C>G | CA414008837 | PCDH19 | c.653G>C (p.Arg218Pro)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407945C>T | CA414008839 | PCDH19 | c.653G>A (p.Arg218His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407946G>A | CA414008842 | PCDH19 | c.652C>T (p.Arg218Cys)
| |
| X | g.100407946G>C | CA414008844 | PCDH19 | c.652C>G (p.Arg218Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407946G= | CA2447976938 | PCDH19 | c.652C= (p.Arg218=)
| |
| X | g.100407946G>T | CA414008847 | PCDH19 | c.652C>A (p.Arg218Ser)
| |
| X | g.100407947C>A | CA517748646 | PCDH19 | c.651G>T (p.Pro217=)
| |
| X | g.100407947C>G | CA517748648 | PCDH19 | c.651G>C (p.Pro217=)
| |
| X | g.100407947C>T | CA517748653 | PCDH19 | c.651G>A (p.Pro217=)
| gnomAD v4 |
| X | g.100407948G>A | CA414008851 | PCDH19 | c.650C>T (p.Pro217Leu)
| |
| X | g.100407948G>C | CA414008853 | PCDH19 | c.650C>G (p.Pro217Arg)
| |
| X | g.100407948G= | CA2447976939 | PCDH19 | c.650C= (p.Pro217=)
| |
| X | g.100407948G>T | CA10468965 | PCDH19 | c.650C>A (p.Pro217Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407949G>A | CA414008860 | PCDH19 | c.649C>T (p.Pro217Ser)
| dbSNP |
| X | g.100407949G>C | CA414008856 | PCDH19 | c.649C>G (p.Pro217Ala)
| |
| X | g.100407949G= | CA2447976940 | PCDH19 | c.649C= (p.Pro217=)
| |
| X | g.100407949G>T | CA414008858 | PCDH19 | c.649C>A (p.Pro217Thr)
| |
| X | g.100407950C>A | CA517748667 | PCDH19 | c.648G>T (p.Pro216=)
| gnomAD v4 |
| X | g.100407950C= | CA2447976941 | PCDH19 | c.648G= (p.Pro216=)
| |
| X | g.100407950C>G | CA517748668 | PCDH19 | c.648G>C (p.Pro216=)
| dbSNP gnomAD v4 |
| X | g.100407950C>T | CA16609108 | PCDH19 | c.648G>A (p.Pro216=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.100407950_100407951delinsCG | CA2447976942 | PCDH19 | c.647_648delinsCG (p.Pro216=)
| |
| X | g.100407951G>A | CA414008863 | PCDH19 | c.647C>T (p.Pro216Leu)
| COSMIC |
| X | g.100407951G>C | CA414008865 | PCDH19 | c.647C>G (p.Pro216Arg)
| gnomAD v4 |
| X | g.100407951G>T | CA414008867 | PCDH19 | c.647C>A (p.Pro216Gln)
| |
| X | g.100407953del | CA915951276 | PCDH19 | c.647del (p.Pro216ArgfsTer13)
| ClinVar dbSNP |
| X | g.100407952G>A | CA414008871 | PCDH19 | c.646C>T (p.Pro216Ser)
| |
| X | g.100407952G>C | CA414008873 | PCDH19 | c.646C>G (p.Pro216Ala)
| |
| X | g.100407952G>T | CA414008875 | PCDH19 | c.646C>A (p.Pro216Thr)
| |
| X | g.100407953G>A | CA517748684 | PCDH19 | c.645C>T (p.Asp215=)
| gnomAD v4 |
| X | g.100407953G>C | CA414008877 | PCDH19 | c.645C>G (p.Asp215Glu)
| |
| X | g.100407953G>T | CA414008878 | PCDH19 | c.645C>A (p.Asp215Glu)
| |
| X | g.100407954T>A | CA414008879 | PCDH19 | c.644A>T (p.Asp215Val)
| ClinVar dbSNP |
| X | g.100407954T>C | CA414008880 | PCDH19 | c.644A>G (p.Asp215Gly)
| |
| X | g.100407954T>G | CA333826090 | PCDH19 | c.644A>C (p.Asp215Ala)
| dbSNP |
| X | g.100407954T= | CA2447976943 | PCDH19 | c.644A= (p.Asp215=)
| |
| X | g.100407955C>A | CA414008883 | PCDH19 | c.643G>T (p.Asp215Tyr)
| |
| X | g.100407955C= | CA2447976944 | PCDH19 | c.643G= (p.Asp215=)
| |
| X | g.100407955C>G | CA414008881 | PCDH19 | c.643G>C (p.Asp215His)
| |
| X | g.100407955C>T | CA414008882 | PCDH19 | c.643G>A (p.Asp215Asn)
| dbSNP gnomAD v2 |
| X | g.100407956G>A | CA517748689 | PCDH19 | c.642C>T (p.Gly214=)
| gnomAD v4 COSMIC |
| X | g.100407956G>C | CA517748691 | PCDH19 | c.642C>G (p.Gly214=)
| gnomAD v4 |
| X | g.100407956G= | CA2447976945 | PCDH19 | c.642C= (p.Gly214=)
| |
| X | g.100407956G>T | CA517748693 | PCDH19 | c.642C>A (p.Gly214=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407957C>A | CA414008884 | PCDH19 | c.641G>T (p.Gly214Val)
| |
| X | g.100407957C>G | CA414008885 | PCDH19 | c.641G>C (p.Gly214Ala)
| |
| X | g.100407957C>T | CA414008888 | PCDH19 | c.641G>A (p.Gly214Asp)
| |
| X | g.100407958C>A | CA414008890 | PCDH19 | c.640G>T (p.Gly214Cys)
| |
| X | g.100407958C>G | CA414008892 | PCDH19 | c.640G>C (p.Gly214Arg)
| |
| X | g.100407958C>T | CA414008894 | PCDH19 | c.640G>A (p.Gly214Ser)
| |
| X | g.100407959A= | CA2447976946 | PCDH19 | c.639T= (p.Gly213=)
| |
| X | g.100407959A>C | CA517748701 | PCDH19 | c.639T>G (p.Gly213=)
| |
| X | g.100407959A>G | CA517748703 | PCDH19 | c.639T>C (p.Gly213=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407959A>T | CA517748705 | PCDH19 | c.639T>A (p.Gly213=)
| |
| X | g.100407960C>A | CA414008897 | PCDH19 | c.638G>T (p.Gly213Val)
| ClinVar dbSNP |
| X | g.100407960C= | CA2447976947 | PCDH19 | c.638G= (p.Gly213=)
| |
| X | g.100407960C>G | CA414008899 | PCDH19 | c.638G>C (p.Gly213Ala)
| |
| X | g.100407960C>T | CA414008902 | PCDH19 | c.638G>A (p.Gly213Asp)
| |
| X | g.100407961C>A | CA414008905 | PCDH19 | c.637G>T (p.Gly213Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407961C= | CA2447976948 | PCDH19 | c.637G= (p.Gly213=)
| |
| X | g.100407961C>G | CA414008907 | PCDH19 | c.637G>C (p.Gly213Arg)
| |
| X | g.100407961C>T | CA414008909 | PCDH19 | c.637G>A (p.Gly213Ser)
| dbSNP gnomAD v2 |
| X | g.100407962G>A | CA517748709 | PCDH19 | c.636C>T (p.Asp212=)
| ClinVar gnomAD v4 |
| X | g.100407962G>C | CA414008913 | PCDH19 | c.636C>G (p.Asp212Glu)
| ClinVar dbSNP |
| X | g.100407962G>T | CA414008912 | PCDH19 | c.636C>A (p.Asp212Glu)
| dbSNP gnomAD v4 |
| X | g.100407963T>A | CA414008917 | PCDH19 | c.635A>T (p.Asp212Val)
| |
| X | g.100407963T>C | CA414008919 | PCDH19 | c.635A>G (p.Asp212Gly)
| |
| X | g.100407963T>G | CA414008921 | PCDH19 | c.635A>C (p.Asp212Ala)
| dbSNP |
| X | g.100407963T= | CA2447976949 | PCDH19 | c.635A= (p.Asp212=)
| |
| X | g.100407964C>A | CA414008923 | PCDH19 | c.634G>T (p.Asp212Tyr)
| |
| X | g.100407964C= | CA2447976950 | PCDH19 | c.634G= (p.Asp212=)
| |
| X | g.100407964C>G | CA316316 | PCDH19 | c.634G>C (p.Asp212His)
| ClinVar dbSNP |
| X | g.100407964C>T | CA414008927 | PCDH19 | c.634G>A (p.Asp212Asn)
| |
| X | g.100407965T>A | CA517748714 | PCDH19 | c.633A>T (p.Leu211=)
| |
| X | g.100407965T>C | CA517748716 | PCDH19 | c.633A>G (p.Leu211=)
| gnomAD v4 |
| X | g.100407965T>G | CA517748717 | PCDH19 | c.633A>C (p.Leu211=)
| |
| X | g.100407966A>C | CA414008930 | PCDH19 | c.632T>G (p.Leu211Arg)
| |
| X | g.100407966A>G | CA414008932 | PCDH19 | c.632T>C (p.Leu211Pro)
| |
| X | g.100407966A>T | CA414008935 | PCDH19 | c.632T>A (p.Leu211Gln)
| |
| X | g.100407967G>A | CA10468966 | PCDH19 | c.631C>T (p.Leu211=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407967G>C | CA414008938 | PCDH19 | c.631C>G (p.Leu211Val)
| dbSNP |
| X | g.100407967G= | CA2447976951 | PCDH19 | c.631C= (p.Leu211=)
| |
| X | g.100407967G>T | CA414008940 | PCDH19 | c.631C>A (p.Leu211Ile)
| |
| X | g.100407968C>A | CA517748722 | PCDH19 | c.630G>T (p.Ala210=)
| gnomAD v4 |
| X | g.100407968C= | CA2447976952 | PCDH19 | c.630G= (p.Ala210=)
| |
| X | g.100407968C>G | CA517748725 | PCDH19 | c.630G>C (p.Ala210=)
| gnomAD v4 |
| X | g.100407968C>T | CA10468967 | PCDH19 | c.630G>A (p.Ala210=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407969G>A | CA414008948 | PCDH19 | c.629C>T (p.Ala210Val)
| |
| X | g.100407969G>C | CA414008950 | PCDH19 | c.629C>G (p.Ala210Gly)
| |
| X | g.100407969G>T | CA414008946 | PCDH19 | c.629C>A (p.Ala210Glu)
| |
| X | g.100407970C>A | CA414008953 | PCDH19 | c.628G>T (p.Ala210Ser)
| |
| X | g.100407970C>G | CA414008955 | PCDH19 | c.628G>C (p.Ala210Pro)
| |
| X | g.100407970C>T | CA414008957 | PCDH19 | c.628G>A (p.Ala210Thr)
| |
| X | g.100407971A>C | CA517748732 | PCDH19 | c.627T>G (p.Thr209=)
| |
| X | g.100407971A>G | CA517748735 | PCDH19 | c.627T>C (p.Thr209=)
| |
| X | g.100407971A>T | CA517748737 | PCDH19 | c.627T>A (p.Thr209=)
| |
| X | g.100407972G>A | CA414008960 | PCDH19 | c.626C>T (p.Thr209Ile)
| |
| X | g.100407972G>C | CA414008962 | PCDH19 | c.626C>G (p.Thr209Ser)
| |
| X | g.100407972G= | CA2447976953 | PCDH19 | c.626C= (p.Thr209=)
| |
| X | g.100407972G>T | CA414008964 | PCDH19 | c.626C>A (p.Thr209Asn)
| ClinVar dbSNP |
| X | g.100407973T>A | CA414008967 | PCDH19 | c.625A>T (p.Thr209Ser)
| |
| X | g.100407973T>C | CA414008971 | PCDH19 | c.625A>G (p.Thr209Ala)
| |
| X | g.100407973T>G | CA316313 | PCDH19 | c.625A>C (p.Thr209Pro)
| ClinVar dbSNP |
| X | g.100407973T= | CA2447976954 | PCDH19 | c.625A= (p.Thr209=)
| |
| X | g.100407974G>A | CA517748742 | PCDH19 | c.624C>T (p.Ile208=)
| gnomAD v4 |
| X | g.100407974G>C | CA333826091 | PCDH19 | c.624C>G (p.Ile208Met)
| dbSNP gnomAD v2 |
| X | g.100407974G= | CA2447976955 | PCDH19 | c.624C= (p.Ile208=)
| |
| X | g.100407974G>T | CA517748745 | PCDH19 | c.624C>A (p.Ile208=)
| |
| X | g.100407974_100407975delinsTT | CA2573159046 | PCDH19 | c.623_624delinsAA (p.Ile208Lys)
| ClinVar dbSNP |
| X | g.100407975A= | CA2447976956 | PCDH19 | c.623T= (p.Ile208=)
| |
| X | g.100407975A>C | CA414008975 | PCDH19 | c.623T>G (p.Ile208Ser)
| |
| X | g.100407975A>G | CA414008977 | PCDH19 | c.623T>C (p.Ile208Thr)
| |
| X | g.100407975A>T | CA316310 | PCDH19 | c.623T>A (p.Ile208Asn)
| ClinVar dbSNP |
| X | g.100407976T>A | CA414008981 | PCDH19 | c.622A>T (p.Ile208Phe)
| |
| X | g.100407976T>C | CA414008985 | PCDH19 | c.622A>G (p.Ile208Val)
| |
| X | g.100407976T>G | CA414008983 | PCDH19 | c.622A>C (p.Ile208Leu)
| |
| X | g.100407977T>A | CA517748751 | PCDH19 | c.621A>T (p.Arg207=)
| |
| X | g.100407977T>C | CA517748753 | PCDH19 | c.621A>G (p.Arg207=)
| |
| X | g.100407977T>G | CA517748754 | PCDH19 | c.621A>C (p.Arg207=)
| |
| X | g.100407978C>A | CA414008989 | PCDH19 | c.620G>T (p.Arg207Leu)
| |
| X | g.100407978C= | CA2447976957 | PCDH19 | c.620G= (p.Arg207=)
| |
| X | g.100407978C>G | CA414008992 | PCDH19 | c.620G>C (p.Arg207Pro)
| |
| X | g.100407978C>T | CA414008994 | PCDH19 | c.620G>A (p.Arg207Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407978_100407979delinsT | CA658761349 | PCDH19 | c.619_620delinsA (p.Arg207LysfsTer5)
| |
| X | g.100407978_100407979delinsCG | CA2447976958 | PCDH19 | c.619_620delinsCG (p.Arg207=)
| |
| X | g.100407979G>A | CA316304 | PCDH19 | c.619C>T (p.Arg207Ter)
| ClinVar dbSNP |
| X | g.100407979G>C | CA333826092 | PCDH19 | c.619C>G (p.Arg207Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407979G= | CA2447976959 | PCDH19 | c.619C= (p.Arg207=)
| |
| X | g.100407979G>T | CA517748760 | PCDH19 | c.619C>A (p.Arg207=)
| |
| X | g.100407980del | CA658659029 | PCDH19 | c.619del (p.Arg207GlufsTer5)
| ClinVar dbSNP |
| X | g.100407980G>A | CA517748762 | PCDH19 | c.618C>T (p.Phe206=)
| ClinVar gnomAD v4 |
| X | g.100407980G>C | CA414008998 | PCDH19 | c.618C>G (p.Phe206Leu)
| |
| X | g.100407980G>T | CA414009000 | PCDH19 | c.618C>A (p.Phe206Leu)
| |
| X | g.100407981A= | CA2447976960 | PCDH19 | c.617T= (p.Phe206=)
| |
| X | g.100407981A>C | CA10468968 | PCDH19 | c.617T>G (p.Phe206Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407981A>G | CA414009003 | PCDH19 | c.617T>C (p.Phe206Ser)
| |
| X | g.100407981A>T | CA414009005 | PCDH19 | c.617T>A (p.Phe206Tyr)
| ClinVar |
| X | g.100407981_100407990delinsCAGCTGTAGG | CA2695234729 | PCDH19 | c.608_617delinsCCTACAGCTG (p.His203_Phe206delinsProTyrSerCys)
| |
| X | g.100407982A>C | CA414009007 | PCDH19 | c.616T>G (p.Phe206Val)
| |
| X | g.100407982A>G | CA414009009 | PCDH19 | c.616T>C (p.Phe206Leu)
| |
| X | g.100407982A>T | CA414009012 | PCDH19 | c.616T>A (p.Phe206Ile)
| |
| X | g.100407982_100407983delinsAG | CA2447976961 | PCDH19 | c.615_616delinsCT (p.Ser205=)
| |
| X | g.100407983del | CA916083983 | PCDH19 | c.615del (p.Phe206SerfsTer6)
| ClinVar dbSNP |
| X | g.100407983G>A | CA517748771 | PCDH19 | c.615C>T (p.Ser205=)
| |
| X | g.100407983G>C | CA414009014 | PCDH19 | c.615C>G (p.Ser205Arg)
| ClinVar gnomAD v4 COSMIC |
| X | g.100407983G>T | CA414009017 | PCDH19 | c.615C>A (p.Ser205Arg)
| gnomAD v4 |
| X | g.100407984del | CA2695234730 | PCDH19 | c.614del (p.Ser205ThrfsTer7)
| |
| X | g.100407984C>A | CA414009023 | PCDH19 | c.614G>T (p.Ser205Ile)
| |
| X | g.100407984C>G | CA414009019 | PCDH19 | c.614G>C (p.Ser205Thr)
| |
| X | g.100407984C>T | CA414009022 | PCDH19 | c.614G>A (p.Ser205Asn)
| |
| X | g.100407985T>A | CA414009026 | PCDH19 | c.613A>T (p.Ser205Cys)
| |
| X | g.100407985T>C | CA414009028 | PCDH19 | c.613A>G (p.Ser205Gly)
| |
| X | g.100407985T>G | CA414009031 | PCDH19 | c.613A>C (p.Ser205Arg)
| dbSNP gnomAD v4 |
| X | g.100407985T= | CA2447976962 | PCDH19 | c.613A= (p.Ser205=)
| |
| X | g.100407986G>A | CA517748783 | PCDH19 | c.612C>T (p.Tyr204=)
| dbSNP |
| X | g.100407986G>C | CA414009034 | PCDH19 | c.612C>G (p.Tyr204Ter)
| |
| X | g.100407986G= | CA2447976963 | PCDH19 | c.612C= (p.Tyr204=)
| |
| X | g.100407986G>T | CA414009036 | PCDH19 | c.612C>A (p.Tyr204Ter)
| ClinVar dbSNP |
| X | g.100407987T>A | CA414009039 | PCDH19 | c.611A>T (p.Tyr204Phe)
| |
| X | g.100407987T>C | CA10468969 | PCDH19 | c.611A>G (p.Tyr204Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407987T>G | CA414009040 | PCDH19 | c.611A>C (p.Tyr204Ser)
| |
| X | g.100407987T= | CA2447976964 | PCDH19 | c.611A= (p.Tyr204=)
| |
| X | g.100407988A>C | CA414009044 | PCDH19 | c.610T>G (p.Tyr204Asp)
| |
| X | g.100407988A>G | CA414009046 | PCDH19 | c.610T>C (p.Tyr204His)
| |
| X | g.100407988A>T | CA414009048 | PCDH19 | c.610T>A (p.Tyr204Asn)
| |
| X | g.100407989G>A | CA517748794 | PCDH19 | c.609C>T (p.His203=)
| dbSNP |
| X | g.100407989G>C | CA414009050 | PCDH19 | c.609C>G (p.His203Gln)
| ClinVar gnomAD v4 |
| X | g.100407989G>T | CA414009052 | PCDH19 | c.609C>A (p.His203Gln)
| |
| X | g.100407990T>A | CA414009061 | PCDH19 | c.608A>T (p.His203Leu)
| gnomAD v4 |
| X | g.100407990T>C | CA414009056 | PCDH19 | c.608A>G (p.His203Arg)
| |
| X | g.100407990T>G | CA414009058 | PCDH19 | c.608A>C (p.His203Pro)
| |
| X | g.100407991G>A | CA10468970 | PCDH19 | c.607C>T (p.His203Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407991G>C | CA414009065 | PCDH19 | c.607C>G (p.His203Asp)
| |
| X | g.100407991G= | CA2447976965 | PCDH19 | c.607C= (p.His203=)
| |
| X | g.100407991G>T | CA414009067 | PCDH19 | c.607C>A (p.His203Asn)
| gnomAD v4 |
| X | g.100407992C>A | CA517748805 | PCDH19 | c.606G>T (p.Ser202=)
| |
| X | g.100407992C= | CA2447976966 | PCDH19 | c.606G= (p.Ser202=)
| |
| X | g.100407992C>G | CA517748806 | PCDH19 | c.606G>C (p.Ser202=)
| |
| X | g.100407992C>T | CA10468971 | PCDH19 | c.606G>A (p.Ser202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.100407993G>A | CA414009072 | PCDH19 | c.605C>T (p.Ser202Leu)
| |
| X | g.100407993G>C | CA414009074 | PCDH19 | c.605C>G (p.Ser202Trp)
| |
| X | g.100407993G>T | CA414009076 | PCDH19 | c.605C>A (p.Ser202Ter)
| gnomAD v4 |
| X | g.100407994A>C | CA414009084 | PCDH19 | c.604T>G (p.Ser202Ala)
| |
| X | g.100407994A>G | CA414009080 | PCDH19 | c.604T>C (p.Ser202Pro)
| |
| X | g.100407994A>T | CA414009082 | PCDH19 | c.604T>A (p.Ser202Thr)
| |
| X | g.100407995C>A | CA414009086 | PCDH19 | c.603G>T (p.Gln201His)
| |
| X | g.100407995C>G | CA414009088 | PCDH19 | c.603G>C (p.Gln201His)
| |
| X | g.100407995C>T | CA517748814 | PCDH19 | c.603G>A (p.Gln201=)
| |
| X | g.100407995_100407998dup | CA2499226259 | PCDH19 | c.600_603dup (p.Ser202AlafsTer25)
| ClinVar dbSNP |
| X | g.100407996T>A | CA414009091 | PCDH19 | c.602A>T (p.Gln201Leu)
| |
| X | g.100407996T>C | CA414009093 | PCDH19 | c.602A>G (p.Gln201Arg)
| dbSNP |
| X | g.100407996T>G | CA414009096 | PCDH19 | c.602A>C (p.Gln201Pro)
| ClinVar dbSNP |
| X | g.100407996T= | CA2447976967 | PCDH19 | c.602A= (p.Gln201=)
| |
| X | g.100407997G>A | CA414009099 | PCDH19 | c.601C>T (p.Gln201Ter)
| |
| X | g.100407997G>C | CA414009103 | PCDH19 | c.601C>G (p.Gln201Glu)
| |
| X | g.100407997G>T | CA414009101 | PCDH19 | c.601C>A (p.Gln201Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407998C>A | CA517748820 | PCDH19 | c.600G>T (p.Thr200=)
| |
| X | g.100407998C>G | CA517748821 | PCDH19 | c.600G>C (p.Thr200=)
| gnomAD v4 |
| X | g.100407998C>T | CA517748822 | PCDH19 | c.600G>A (p.Thr200=)
| gnomAD v4 |
| X | g.100407999G>A | CA414009106 | PCDH19 | c.599C>T (p.Thr200Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407999G>C | CA414009108 | PCDH19 | c.599C>G (p.Thr200Arg)
| |
| X | g.100407999G= | CA2447976968 | PCDH19 | c.599C= (p.Thr200=)
| |
| X | g.100407999G>T | CA414009110 | PCDH19 | c.599C>A (p.Thr200Lys)
| gnomAD v4 |
| X | g.100408002_100408009del | CA2695234731 | PCDH19 | c.592_599del (p.Arg198AlafsTer25)
| |
| X | g.100408000T>A | CA414009112 | PCDH19 | c.598A>T (p.Thr200Ser)
| |
| X | g.100408000T>C | CA414009114 | PCDH19 | c.598A>G (p.Thr200Ala)
| |
| X | g.100408000T>G | CA414009116 | PCDH19 | c.598A>C (p.Thr200Pro)
| |
