| X | g.100407942_100407952delinsAGGCGCGGCGG | CA2447976934 | PCDH19 | c.646_656delinsCCGCCGCGCCT (p.Pro216=)
| |
| X | g.100407944_100407953del | CA10588730 | PCDH19 | c.646_655del (p.Pro216TrpfsTer10)
| ClinVar dbSNP |
| 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)
| |
| X | g.100408001C>A | CA414009118 | PCDH19 | c.597G>T (p.Glu199Asp)
| |
| X | g.100408001C= | CA2447976969 | PCDH19 | c.597G= (p.Glu199=)
| |
| X | g.100408001C>G | CA414009120 | PCDH19 | c.597G>C (p.Glu199Asp)
| |
| X | g.100408001C>T | CA517748836 | PCDH19 | c.597G>A (p.Glu199=)
| dbSNP |
| X | g.100408002T>A | CA414009123 | PCDH19 | c.596A>T (p.Glu199Val)
| |
| X | g.100408002T>C | CA414009125 | PCDH19 | c.596A>G (p.Glu199Gly)
| ClinVar |
| X | g.100408002T>G | CA414009127 | PCDH19 | c.596A>C (p.Glu199Ala)
| |
| X | g.100408003C>A | CA414009134 | PCDH19 | c.595G>T (p.Glu199Ter)
| ClinVar dbSNP |
| X | g.100408003C= | CA2447976970 | PCDH19 | c.595G= (p.Glu199=)
| |
| X | g.100408003C>G | CA414009130 | PCDH19 | c.595G>C (p.Glu199Gln)
| ClinVar |
| X | g.100408003C>T | CA414009132 | PCDH19 | c.595G>A (p.Glu199Lys)
| |
| X | g.100408004G>A | CA517748843 | PCDH19 | c.594C>T (p.Arg198=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408004G>C | CA10468972 | PCDH19 | c.594C>G (p.Arg198=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408004G= | CA2447976971 | PCDH19 | c.594C= (p.Arg198=)
| |
| X | g.100408004G>T | CA517748847 | PCDH19 | c.594C>A (p.Arg198=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408005C>A | CA414009138 | PCDH19 | c.593G>T (p.Arg198Leu)
| ClinVar dbSNP |
| X | g.100408005C= | CA2447976972 | PCDH19 | c.593G= (p.Arg198=)
| |
| X | g.100408005C>G | CA414009140 | PCDH19 | c.593G>C (p.Arg198Pro)
| ClinVar dbSNP |
| X | g.100408005C>T | CA10468973 | PCDH19 | c.593G>A (p.Arg198His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408006G>A | CA414009145 | PCDH19 | c.592C>T (p.Arg198Cys)
| gnomAD v4 |
| X | g.100408006G>C | CA414009147 | PCDH19 | c.592C>G (p.Arg198Gly)
| ClinVar dbSNP |
| X | g.100408006G>T | CA414009148 | PCDH19 | c.592C>A (p.Arg198Ser)
| gnomAD v4 |
| X | g.100408007G>A | CA10468974 | PCDH19 | c.591C>T (p.Asp197=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408007G>C | CA414009150 | PCDH19 | c.591C>G (p.Asp197Glu)
| ClinVar dbSNP |
| X | g.100408007G= | CA2447976973 | PCDH19 | c.591C= (p.Asp197=)
| |
| X | g.100408007G>T | CA414009152 | PCDH19 | c.591C>A (p.Asp197Glu)
| |
| X | g.100408008T>A | CA414009156 | PCDH19 | c.590A>T (p.Asp197Val)
| |
| X | g.100408008T>C | CA414009158 | PCDH19 | c.590A>G (p.Asp197Gly)
| ClinVar dbSNP |
| X | g.100408008T>G | CA414009161 | PCDH19 | c.590A>C (p.Asp197Ala)
| |
| X | g.100408009C>A | CA414009164 | PCDH19 | c.589G>T (p.Asp197Tyr)
| |
| X | g.100408009C>G | CA414009166 | PCDH19 | c.589G>C (p.Asp197His)
| |
| X | g.100408009C>T | CA414009168 | PCDH19 | c.589G>A (p.Asp197Asn)
| gnomAD v4 |
| X | g.100408010C>A | CA517748865 | PCDH19 | c.588G>T (p.Leu196=)
| |
| X | g.100408010C>G | CA517748863 | PCDH19 | c.588G>C (p.Leu196=)
| |
| X | g.100408010C>T | CA517748864 | PCDH19 | c.588G>A (p.Leu196=)
| gnomAD v4 |
| X | g.100408011A>C | CA414009171 | PCDH19 | c.587T>G (p.Leu196Arg)
| |
| X | g.100408011A>G | CA414009174 | PCDH19 | c.587T>C (p.Leu196Pro)
| |
| X | g.100408011A>T | CA414009173 | PCDH19 | c.587T>A (p.Leu196Gln)
| |
| X | g.100408012G>A | CA517748870 | PCDH19 | c.586C>T (p.Leu196=)
| |
| X | g.100408012G>C | CA414009177 | PCDH19 | c.586C>G (p.Leu196Val)
| |
| X | g.100408012G>T | CA414009178 | PCDH19 | c.586C>A (p.Leu196Met)
| |
| 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?)
| |
