| X | g.100407396C>A | CA414003710 | PCDH19 | c.1202G>T (p.Ser401Ile)
| |
| X | g.100407396C>G | CA414003712 | PCDH19 | c.1202G>C (p.Ser401Thr)
| |
| X | g.100407396C>T | CA414003714 | PCDH19 | c.1202G>A (p.Ser401Asn)
| |
| X | g.100407397T>A | CA414003718 | PCDH19 | c.1201A>T (p.Ser401Cys)
| |
| X | g.100407397T>C | CA414003724 | PCDH19 | c.1201A>G (p.Ser401Gly)
| |
| X | g.100407397T>G | CA414003716 | PCDH19 | c.1201A>C (p.Ser401Arg)
| |
| X | g.100407398C>A | CA414003727 | PCDH19 | c.1200G>T (p.Glu400Asp)
| |
| X | g.100407398C= | CA2447976705 | PCDH19 | c.1200G= (p.Glu400=)
| |
| X | g.100407398C>G | CA414003728 | PCDH19 | c.1200G>C (p.Glu400Asp)
| |
| X | g.100407398C>T | CA10468910 | PCDH19 | c.1200G>A (p.Glu400=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407399T>A | CA414003729 | PCDH19 | c.1199A>T (p.Glu400Val)
| |
| X | g.100407399T>C | CA414003730 | PCDH19 | c.1199A>G (p.Glu400Gly)
| |
| X | g.100407399T>G | CA414003731 | PCDH19 | c.1199A>C (p.Glu400Ala)
| |
| X | g.100407400C>A | CA414003734 | PCDH19 | c.1198G>T (p.Glu400Ter)
| |
| X | g.100407400C>G | CA414003740 | PCDH19 | c.1198G>C (p.Glu400Gln)
| |
| X | g.100407400C>T | CA414003738 | PCDH19 | c.1198G>A (p.Glu400Lys)
| gnomAD v4 |
| X | g.100407401A>C | CA414003742 | PCDH19 | c.1197T>G (p.Tyr399Ter)
| ClinVar dbSNP |
| X | g.100407401A>G | CA517747977 | PCDH19 | c.1197T>C (p.Tyr399=)
| |
| X | g.100407401A>T | CA414003744 | PCDH19 | c.1197T>A (p.Tyr399Ter)
| |
| X | g.100407403_100407404del | CA2697553221 | PCDH19 | c.1196_1197del (p.Tyr399Ter)
| ClinVar |
| X | g.100407402T>A | CA414003745 | PCDH19 | c.1196A>T (p.Tyr399Phe)
| dbSNP |
| X | g.100407402T>C | CA414003746 | PCDH19 | c.1196A>G (p.Tyr399Cys)
| |
| X | g.100407402T>G | CA414003748 | PCDH19 | c.1196A>C (p.Tyr399Ser)
| |
| X | g.100407402T= | CA2447976706 | PCDH19 | c.1196A= (p.Tyr399=)
| |
| X | g.100407403A>C | CA414003753 | PCDH19 | c.1195T>G (p.Tyr399Asp)
| |
| X | g.100407403A>G | CA414003754 | PCDH19 | c.1195T>C (p.Tyr399His)
| |
| X | g.100407403A>T | CA414003751 | PCDH19 | c.1195T>A (p.Tyr399Asn)
| |
| X | g.100407404T>A | CA414003755 | PCDH19 | c.1194A>T (p.Glu398Asp)
| |
| X | g.100407404T>C | CA517747979 | PCDH19 | c.1194A>G (p.Glu398=)
| |
| X | g.100407404T>G | CA414003756 | PCDH19 | c.1194A>C (p.Glu398Asp)
| |
| X | g.100407405T>A | CA414003757 | PCDH19 | c.1193A>T (p.Glu398Val)
| |
| X | g.100407405T>C | CA414003758 | PCDH19 | c.1193A>G (p.Glu398Gly)
| |
| X | g.100407405T>G | CA414003765 | PCDH19 | c.1193A>C (p.Glu398Ala)
| |
| X | g.100407406C>A | CA414003767 | PCDH19 | c.1192G>T (p.Glu398Ter)
| ClinVar dbSNP |
| X | g.100407406C>G | CA414003770 | PCDH19 | c.1192G>C (p.Glu398Gln)
| |
| X | g.100407406C>T | CA414003774 | PCDH19 | c.1192G>A (p.Glu398Lys)
| |
| X | g.100407407C>A | CA414003776 | PCDH19 | c.1191G>T (p.Gln397His)
| |
| X | g.100407407C= | CA2447976707 | PCDH19 | c.1191G= (p.Gln397=)
| |
| X | g.100407407C>G | CA414003777 | PCDH19 | c.1191G>C (p.Gln397His)
| |
| X | g.100407407C>T | CA517747982 | PCDH19 | c.1191G>A (p.Gln397=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407407_100407420delinsGA | CA2695235320 | PCDH19 | c.1178_1191delinsTC (p.Pro393_Gln397delinsLeu)
| |
| X | g.100407408T>A | CA414003778 | PCDH19 | c.1190A>T (p.Gln397Leu)
| dbSNP |
| X | g.100407408T>C | CA414003779 | PCDH19 | c.1190A>G (p.Gln397Arg)
| |
| X | g.100407408T>G | CA414003780 | PCDH19 | c.1190A>C (p.Gln397Pro)
| |
| X | g.100407409G>A | CA414003796 | PCDH19 | c.1189C>T (p.Gln397Ter)
| ClinVar dbSNP |
| X | g.100407409G>C | CA414003790 | PCDH19 | c.1189C>G (p.Gln397Glu)
| |
| X | g.100407409G>T | CA414003784 | PCDH19 | c.1189C>A (p.Gln397Lys)
| |
| X | g.100407410C>A | CA10468911 | PCDH19 | c.1188G>T (p.Leu396=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407410C= | CA2447976708 | PCDH19 | c.1188G= (p.Leu396=)
| |
| X | g.100407410C>G | CA517747984 | PCDH19 | c.1188G>C (p.Leu396=)
| |
| X | g.100407410C>T | CA517747985 | PCDH19 | c.1188G>A (p.Leu396=)
| |
| X | g.100407411A>C | CA414003799 | PCDH19 | c.1187T>G (p.Leu396Arg)
| |
| X | g.100407411A>G | CA414003804 | PCDH19 | c.1187T>C (p.Leu396Pro)
| |
| X | g.100407411A>T | CA414003806 | PCDH19 | c.1187T>A (p.Leu396Gln)
| |
| X | g.100407412G>A | CA517747987 | PCDH19 | c.1186C>T (p.Leu396=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407412G>C | CA414003809 | PCDH19 | c.1186C>G (p.Leu396Val)
| |
| X | g.100407412G= | CA2447976709 | PCDH19 | c.1186C= (p.Leu396=)
| |
| X | g.100407412G>T | CA414003811 | PCDH19 | c.1186C>A (p.Leu396Met)
| |
| X | g.100407413T>A | CA517747988 | PCDH19 | c.1185A>T (p.Arg395=)
| |
| X | g.100407413T>C | CA517747989 | PCDH19 | c.1185A>G (p.Arg395=)
| |
| X | g.100407413T>G | CA517747990 | PCDH19 | c.1185A>C (p.Arg395=)
| |
| X | g.100407414C>A | CA414003813 | PCDH19 | c.1184G>T (p.Arg395Leu)
| |
| X | g.100407414C>G | CA414003814 | PCDH19 | c.1184G>C (p.Arg395Pro)
| |
| X | g.100407414C>T | CA414003815 | PCDH19 | c.1184G>A (p.Arg395Gln)
| COSMIC |
| X | g.100407415G>A | CA10468912 | PCDH19 | c.1183C>T (p.Arg395Ter)
| ClinVar dbSNP ExAC COSMIC |
| X | g.100407415G>C | CA414003816 | PCDH19 | c.1183C>G (p.Arg395Gly)
| |
| X | g.100407415G= | CA2447976710 | PCDH19 | c.1183C= (p.Arg395=)
| |
| X | g.100407415G>T | CA517747991 | PCDH19 | c.1183C>A (p.Arg395=)
| ClinVar dbSNP |
| X | g.100407416A>C | CA414003818 | PCDH19 | c.1182T>G (p.Phe394Leu)
| |
| X | g.100407416A>G | CA517747992 | PCDH19 | c.1182T>C (p.Phe394=)
| |
| X | g.100407416A>T | CA414003819 | PCDH19 | c.1182T>A (p.Phe394Leu)
| |
| X | g.100407417A>C | CA414003821 | PCDH19 | c.1181T>G (p.Phe394Cys)
| |
| X | g.100407417A>G | CA414003822 | PCDH19 | c.1181T>C (p.Phe394Ser)
| |
| X | g.100407417A>T | CA414003820 | PCDH19 | c.1181T>A (p.Phe394Tyr)
| |
| X | g.100407418A>C | CA414003825 | PCDH19 | c.1180T>G (p.Phe394Val)
| |
| X | g.100407418A>G | CA414003826 | PCDH19 | c.1180T>C (p.Phe394Leu)
| |
| X | g.100407418A>T | CA414003834 | PCDH19 | c.1180T>A (p.Phe394Ile)
| |
| X | g.100407419G>A | CA517747994 | PCDH19 | c.1179C>T (p.Pro393=)
| |
| X | g.100407419G>C | CA517747995 | PCDH19 | c.1179C>G (p.Pro393=)
| |
| X | g.100407419G>T | CA517747997 | PCDH19 | c.1179C>A (p.Pro393=)
| |
| X | g.100407420G>A | CA414003838 | PCDH19 | c.1178C>T (p.Pro393Leu)
| ClinVar |
| X | g.100407420G>C | CA414003840 | PCDH19 | c.1178C>G (p.Pro393Arg)
| |
| X | g.100407420G>T | CA414003842 | PCDH19 | c.1178C>A (p.Pro393His)
| |
| X | g.100407421G>A | CA10468913 | PCDH19 | c.1177C>T (p.Pro393Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407421G>C | CA414003843 | PCDH19 | c.1177C>G (p.Pro393Ala)
| COSMIC |
| X | g.100407421G= | CA2447976711 | PCDH19 | c.1177C= (p.Pro393=)
| |
| X | g.100407421G>T | CA414003844 | PCDH19 | c.1177C>A (p.Pro393Thr)
| |
| X | g.100407422C>A | CA517748004 | PCDH19 | c.1176G>T (p.Val392=)
| ClinVar dbSNP |
| X | g.100407422C= | CA2447976712 | PCDH19 | c.1176G= (p.Val392=)
| |
| X | g.100407422C>G | CA517748008 | PCDH19 | c.1176G>C (p.Val392=)
| |
| X | g.100407422C>T | CA517748000 | PCDH19 | c.1176G>A (p.Val392=)
| |
| X | g.100407423A>C | CA414003847 | PCDH19 | c.1175T>G (p.Val392Gly)
| |
| X | g.100407423A>G | CA414003849 | PCDH19 | c.1175T>C (p.Val392Ala)
| |
| X | g.100407423A>T | CA414003851 | PCDH19 | c.1175T>A (p.Val392Glu)
| |
| X | g.100407424C>A | CA414003857 | PCDH19 | c.1174G>T (p.Val392Leu)
| |
| X | g.100407424C>G | CA414003854 | PCDH19 | c.1174G>C (p.Val392Leu)
| |
| X | g.100407424C>T | CA414003856 | PCDH19 | c.1174G>A (p.Val392Met)
| |
| X | g.100407425A>C | CA414003859 | PCDH19 | c.1173T>G (p.Asn391Lys)
| |
| X | g.100407425A>G | CA517748014 | PCDH19 | c.1173T>C (p.Asn391=)
| |
| X | g.100407425A>T | CA414003861 | PCDH19 | c.1173T>A (p.Asn391Lys)
| |
| X | g.100407425_100407426delinsAT | CA2447976713 | PCDH19 | c.1172_1173delinsAT (p.Asn391=)
| |
| X | g.100407426T>A | CA414003864 | PCDH19 | c.1172A>T (p.Asn391Ile)
| |
| X | g.100407426T>C | CA414003866 | PCDH19 | c.1172A>G (p.Asn391Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407426T>G | CA414003867 | PCDH19 | c.1172A>C (p.Asn391Thr)
| |
| X | g.100407426T= | CA2447976714 | PCDH19 | c.1172A= (p.Asn391=)
| |
| X | g.100407427dup | CA1139667042 | PCDH19 | c.1172dup (p.Asn391LysfsTer10)
| ClinVar dbSNP |
| X | g.100407427del | CA915951273 | PCDH19 | c.1172del (p.Asn391MetfsTer?)
| ClinVar dbSNP |
| X | g.100407427T>A | CA414003869 | PCDH19 | c.1171A>T (p.Asn391Tyr)
| |
| X | g.100407427T>C | CA414003875 | PCDH19 | c.1171A>G (p.Asn391Asp)
| |
| X | g.100407427T>G | CA414003880 | PCDH19 | c.1171A>C (p.Asn391His)
| |
| X | g.100407428G>A | CA517748020 | PCDH19 | c.1170C>T (p.Gly390=)
| |
| X | g.100407428G>C | CA517748023 | PCDH19 | c.1170C>G (p.Gly390=)
| |
| X | g.100407428G>T | CA517748021 | PCDH19 | c.1170C>A (p.Gly390=)
| |
| X | g.100407429C>A | CA414003883 | PCDH19 | c.1169G>T (p.Gly390Val)
| |
| X | g.100407429C= | CA2447976715 | PCDH19 | c.1169G= (p.Gly390=)
| |
| X | g.100407429C>G | CA414003885 | PCDH19 | c.1169G>C (p.Gly390Ala)
| |
| X | g.100407429C>T | CA414003887 | PCDH19 | c.1169G>A (p.Gly390Asp)
| dbSNP |
| X | g.100407431del | CA2579659268 | PCDH19 | c.1169del (p.Gly390AlafsTer?)
| |
| X | g.100407430C>A | CA414003892 | PCDH19 | c.1168G>T (p.Gly390Cys)
| |
| X | g.100407430C>G | CA414003890 | PCDH19 | c.1168G>C (p.Gly390Arg)
| |
| X | g.100407430C>T | CA414003888 | PCDH19 | c.1168G>A (p.Gly390Ser)
| |
| X | g.100407431C>A | CA517748027 | PCDH19 | c.1167G>T (p.Leu389=)
| COSMIC |
| X | g.100407431C>G | CA517748028 | PCDH19 | c.1167G>C (p.Leu389=)
| |
| X | g.100407431C>T | CA517748029 | PCDH19 | c.1167G>A (p.Leu389=)
| |
| X | g.100407432A>C | CA414003894 | PCDH19 | c.1166T>G (p.Leu389Arg)
| |
| X | g.100407432A>G | CA414003898 | PCDH19 | c.1166T>C (p.Leu389Pro)
| |
| X | g.100407432A>T | CA414003895 | PCDH19 | c.1166T>A (p.Leu389Gln)
| |
| X | g.100407433G>A | CA517748030 | PCDH19 | c.1165C>T (p.Leu389=)
| ClinVar |
| X | g.100407433G>C | CA414003900 | PCDH19 | c.1165C>G (p.Leu389Val)
| ClinVar dbSNP |
| X | g.100407433G= | CA2447976716 | PCDH19 | c.1165C= (p.Leu389=)
| |
| X | g.100407433G>T | CA414003902 | PCDH19 | c.1165C>A (p.Leu389Met)
| |
| X | g.100407434C>A | CA316339 | PCDH19 | c.1164G>T (p.Leu388Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407434C= | CA2447976717 | PCDH19 | c.1164G= (p.Leu388=)
| |
| X | g.100407434C>G | CA414003907 | PCDH19 | c.1164G>C (p.Leu388Phe)
| |
| X | g.100407434C>T | CA517748036 | PCDH19 | c.1164G>A (p.Leu388=)
| ClinVar |
| X | g.100407435A>C | CA414003908 | PCDH19 | c.1163T>G (p.Leu388Trp)
| |
| X | g.100407435A>G | CA414003909 | PCDH19 | c.1163T>C (p.Leu388Ser)
| |
| X | g.100407435A>T | CA414003911 | PCDH19 | c.1163T>A (p.Leu388Ter)
| |
| X | g.100407436A>C | CA414003912 | PCDH19 | c.1162T>G (p.Leu388Val)
| |
| X | g.100407436A>G | CA517748037 | PCDH19 | c.1162T>C (p.Leu388=)
| |
| X | g.100407436A>T | CA414003914 | PCDH19 | c.1162T>A (p.Leu388Met)
| |
| X | g.100407436_100407438del | CA2514242517 | PCDH19 | c.1160_1162del (p.Arg387del)
| |
| X | g.100407437A>C | CA517748040 | PCDH19 | c.1161T>G (p.Arg387=)
| |
| X | g.100407437A>G | CA517748042 | PCDH19 | c.1161T>C (p.Arg387=)
| |
| X | g.100407437A>T | CA517748044 | PCDH19 | c.1161T>A (p.Arg387=)
| |
| X | g.100407438C>A | CA414003922 | PCDH19 | c.1160G>T (p.Arg387Leu)
| |
| X | g.100407438C>G | CA414003918 | PCDH19 | c.1160G>C (p.Arg387Pro)
| |
| X | g.100407438C>T | CA414003919 | PCDH19 | c.1160G>A (p.Arg387His)
| gnomAD v4 |
| X | g.100407439G>A | CA414003923 | PCDH19 | c.1159C>T (p.Arg387Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407439G>C | CA10468914 | PCDH19 | c.1159C>G (p.Arg387Gly)
| ClinVar dbSNP ExAC gnomAD v4 |
| X | g.100407439G= | CA2447976718 | PCDH19 | c.1159C= (p.Arg387=)
| |
| X | g.100407439G>T | CA414003925 | PCDH19 | c.1159C>A (p.Arg387Ser)
| |
| X | g.100407440del | CA2695234715 | PCDH19 | c.1159del (p.Arg387ValfsTer?)
| |
| X | g.100407439_100407440insCTT | CA2557275514 | PCDH19 | c.1158_1159insAAG (p.Cys386_Arg387insLys)
| |
| X | g.100407440G>A | CA517748049 | PCDH19 | c.1158C>T (p.Cys386=)
| dbSNP |
| X | g.100407440G>C | CA414003928 | PCDH19 | c.1158C>G (p.Cys386Trp)
| |
| X | g.100407440G= | CA2447976719 | PCDH19 | c.1158C= (p.Cys386=)
| |
| X | g.100407440G>T | CA414003930 | PCDH19 | c.1158C>A (p.Cys386Ter)
| |
| X | g.100407441C>A | CA414003933 | PCDH19 | c.1157G>T (p.Cys386Phe)
| ClinVar dbSNP |
| X | g.100407441C>G | CA414003938 | PCDH19 | c.1157G>C (p.Cys386Ser)
| |
| X | g.100407441C>T | CA414003935 | PCDH19 | c.1157G>A (p.Cys386Tyr)
| |
| X | g.100407442A>C | CA414003940 | PCDH19 | c.1156T>G (p.Cys386Gly)
| |
| X | g.100407442A>G | CA414003942 | PCDH19 | c.1156T>C (p.Cys386Arg)
| |
| X | g.100407442A>T | CA414003944 | PCDH19 | c.1156T>A (p.Cys386Ser)
| |
| X | g.100407443del | CA2697553222 | PCDH19 | c.1155del (p.Gln385HisfsTer?)
| ClinVar |
| X | g.100407443C>A | CA414003947 | PCDH19 | c.1155G>T (p.Gln385His)
| |
| X | g.100407443C>G | CA414003948 | PCDH19 | c.1155G>C (p.Gln385His)
| |
| X | g.100407443C>T | CA517748054 | PCDH19 | c.1155G>A (p.Gln385=)
| COSMIC |
| X | g.100407444T>A | CA414003950 | PCDH19 | c.1154A>T (p.Gln385Leu)
| |
| X | g.100407444T>C | CA414003951 | PCDH19 | c.1154A>G (p.Gln385Arg)
| gnomAD v4 |
| X | g.100407444T>G | CA414003952 | PCDH19 | c.1154A>C (p.Gln385Pro)
| COSMIC |
| X | g.100407445G>A | CA414003953 | PCDH19 | c.1153C>T (p.Gln385Ter)
| ClinVar dbSNP |
| X | g.100407445G>C | CA414003955 | PCDH19 | c.1153C>G (p.Gln385Glu)
| ClinVar dbSNP |
| X | g.100407445G= | CA2447976720 | PCDH19 | c.1153C= (p.Gln385=)
| |
| X | g.100407445G>T | CA414003958 | PCDH19 | c.1153C>A (p.Gln385Lys)
| |
| X | g.100407446C>A | CA517748064 | PCDH19 | c.1152G>T (p.Val384=)
| |
| X | g.100407446C>G | CA517748063 | PCDH19 | c.1152G>C (p.Val384=)
| |
| X | g.100407446C>T | CA517748062 | PCDH19 | c.1152G>A (p.Val384=)
| |
| X | g.100407449_100407450dup | CA2447976721 | PCDH19 | c.1151_1152dup (p.Gln385CysfsTer?)
| ClinVar dbSNP |
| X | g.100407447A>C | CA414003962 | PCDH19 | c.1151T>G (p.Val384Gly)
| ClinVar gnomAD v4 |
| X | g.100407447A>G | CA414003966 | PCDH19 | c.1151T>C (p.Val384Ala)
| |
| X | g.100407447A>T | CA414003964 | PCDH19 | c.1151T>A (p.Val384Glu)
| |
| X | g.100407448C>A | CA414003969 | PCDH19 | c.1150G>T (p.Val384Leu)
| |
| X | g.100407448C>G | CA414003971 | PCDH19 | c.1150G>C (p.Val384Leu)
| |
| X | g.100407448C>T | CA414003975 | PCDH19 | c.1150G>A (p.Val384Met)
| |
| X | g.100407449A>C | CA517748067 | PCDH19 | c.1149T>G (p.Arg383=)
| |
| X | g.100407449A>G | CA517748069 | PCDH19 | c.1149T>C (p.Arg383=)
| |
| X | g.100407449A>T | CA517748068 | PCDH19 | c.1149T>A (p.Arg383=)
| |
| X | g.100407450C>A | CA414003977 | PCDH19 | c.1148G>T (p.Arg383Leu)
| |
| X | g.100407450C= | CA2447976722 | PCDH19 | c.1148G= (p.Arg383=)
| |
| X | g.100407450C>G | CA414003980 | PCDH19 | c.1148G>C (p.Arg383Pro)
| |
| X | g.100407450C>T | CA414003981 | PCDH19 | c.1148G>A (p.Arg383His)
| ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.100407451G>A | CA414003984 | PCDH19 | c.1147C>T (p.Arg383Cys)
| |
| X | g.100407451G>C | CA414003987 | PCDH19 | c.1147C>G (p.Arg383Gly)
| |
| X | g.100407451G>T | CA414003988 | PCDH19 | c.1147C>A (p.Arg383Ser)
| |
| X | g.100407452T>A | CA517748078 | PCDH19 | c.1146A>T (p.Gly382=)
| COSMIC |
| X | g.100407452T>C | CA517748079 | PCDH19 | c.1146A>G (p.Gly382=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407452T>G | CA517748081 | PCDH19 | c.1146A>C (p.Gly382=)
| |
| X | g.100407452T= | CA2447976723 | PCDH19 | c.1146A= (p.Gly382=)
| |
| X | g.100407452_100407453delinsTC | CA2447976724 | PCDH19 | c.1145_1146delinsGA (p.Gly382=)
| |
| X | g.100407453C>A | CA414003989 | PCDH19 | c.1145G>T (p.Gly382Val)
| |
| X | g.100407453C>G | CA414003991 | PCDH19 | c.1145G>C (p.Gly382Ala)
| |
| X | g.100407453C>T | CA414003994 | PCDH19 | c.1145G>A (p.Gly382Glu)
| |
| X | g.100407454del | CA1139667043 | PCDH19 | c.1145del (p.Gly382AspfsTer?)
| ClinVar dbSNP |
| X | g.100407454C>A | CA414004001 | PCDH19 | c.1144G>T (p.Gly382Ter)
| |
| X | g.100407454C>G | CA414003997 | PCDH19 | c.1144G>C (p.Gly382Arg)
| |
| X | g.100407454C>T | CA414003999 | PCDH19 | c.1144G>A (p.Gly382Arg)
| |
| X | g.100407455A>C | CA414004003 | PCDH19 | c.1143T>G (p.Asn381Lys)
| |
| X | g.100407455A>G | CA517748085 | PCDH19 | c.1143T>C (p.Asn381=)
| |
| X | g.100407455A>T | CA414004004 | PCDH19 | c.1143T>A (p.Asn381Lys)
| |
| X | g.100407455dup | CA2695234716 | PCDH19 | c.1143dup (p.Gly382TrpfsTer19)
| |
| X | g.100407456T>A | CA414004005 | PCDH19 | c.1142A>T (p.Asn381Ile)
| |
| X | g.100407456T>C | CA414004008 | PCDH19 | c.1142A>G (p.Asn381Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407456T>G | CA414004010 | PCDH19 | c.1142A>C (p.Asn381Thr)
| |
| X | g.100407456T= | CA2447976725 | PCDH19 | c.1142A= (p.Asn381=)
| |
| X | g.100407457T>A | CA414004012 | PCDH19 | c.1141A>T (p.Asn381Tyr)
| |
| X | g.100407457T>C | CA414004015 | PCDH19 | c.1141A>G (p.Asn381Asp)
| |
| X | g.100407457T>G | CA10468915 | PCDH19 | c.1141A>C (p.Asn381His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407457T= | CA2447976726 | PCDH19 | c.1141A= (p.Asn381=)
| |
| X | g.100407461_100407467del | CA2565267703 | PCDH19 | c.1135_1141del (p.Gly379MetfsTer?)
| |
| X | g.100407458G>A | CA517748090 | PCDH19 | c.1140C>T (p.Leu380=)
| gnomAD v4 |
| X | g.100407458G>C | CA517748094 | PCDH19 | c.1140C>G (p.Leu380=)
| |
| X | g.100407458G>T | CA517748096 | PCDH19 | c.1140C>A (p.Leu380=)
| |
| X | g.100407459_100407460del | CA2549008863 | PCDH19 | c.1139_1140del (p.Leu380GlnfsTer20)
| |
| X | g.100407459A>C | CA414004020 | PCDH19 | c.1139T>G (p.Leu380Arg)
| |
| X | g.100407459A>G | CA414004026 | PCDH19 | c.1139T>C (p.Leu380Pro)
| |
| X | g.100407459A>T | CA414004029 | PCDH19 | c.1139T>A (p.Leu380His)
| |
| X | g.100407460G>A | CA414004037 | PCDH19 | c.1138C>T (p.Leu380Phe)
| |
| X | g.100407460G>C | CA414004034 | PCDH19 | c.1138C>G (p.Leu380Val)
| |
| X | g.100407460G>T | CA414004032 | PCDH19 | c.1138C>A (p.Leu380Ile)
| gnomAD v4 |
| X | g.100407461G>A | CA285461 | PCDH19 | c.1137C>T (p.Gly379=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407461G>C | CA517748102 | PCDH19 | c.1137C>G (p.Gly379=)
| |
| X | g.100407461G= | CA2447976727 | PCDH19 | c.1137C= (p.Gly379=)
| |
| X | g.100407461G>T | CA517748104 | PCDH19 | c.1137C>A (p.Gly379=)
| |
| X | g.100407462_100407465dup | CA2695234717 | PCDH19 | c.1134_1137dup (p.Leu380ArgfsTer22)
| ClinVar |
| X | g.100407462C>A | CA414004047 | PCDH19 | c.1136G>T (p.Gly379Val)
| |
| X | g.100407462C>G | CA414004042 | PCDH19 | c.1136G>C (p.Gly379Ala)
| |
| X | g.100407462C>T | CA414004044 | PCDH19 | c.1136G>A (p.Gly379Asp)
| |
| X | g.100407462_100407463dup | CA2525187853 | PCDH19 | c.1135_1136dup (p.Leu380AlafsTer?)
| |
| X | g.100407463C>A | CA414004048 | PCDH19 | c.1135G>T (p.Gly379Cys)
| |
| X | g.100407463C>G | CA414004049 | PCDH19 | c.1135G>C (p.Gly379Arg)
| |
| X | g.100407463C>T | CA414004050 | PCDH19 | c.1135G>A (p.Gly379Ser)
| |
| X | g.100407463_100407464delinsCT | CA2447976728 | PCDH19 | c.1134_1135delinsAG (p.Ser378=)
| |
| X | g.100407464del | CA316403 | PCDH19 | c.1134del (p.Gly379AlafsTer?)
| ClinVar dbSNP |
| X | g.100407464T>A | CA517748114 | PCDH19 | c.1134A>T (p.Ser378=)
| |
| X | g.100407464T>C | CA517748113 | PCDH19 | c.1134A>G (p.Ser378=)
| |
| X | g.100407464T>G | CA517748110 | PCDH19 | c.1134A>C (p.Ser378=)
| |
| X | g.100407465G>A | CA414004054 | PCDH19 | c.1133C>T (p.Ser378Leu)
| |
| X | g.100407465G>C | CA414004055 | PCDH19 | c.1133C>G (p.Ser378Ter)
| ClinVar dbSNP |
| X | g.100407465G= | CA2447976729 | PCDH19 | c.1133C= (p.Ser378=)
| |
| X | g.100407465G>T | CA414004063 | PCDH19 | c.1133C>A (p.Ser378Ter)
| |
| X | g.100407466A>C | CA414004066 | PCDH19 | c.1132T>G (p.Ser378Ala)
| COSMIC |
| X | g.100407466A>G | CA414004069 | PCDH19 | c.1132T>C (p.Ser378Pro)
| COSMIC |
| X | g.100407466A>T | CA414004071 | PCDH19 | c.1132T>A (p.Ser378Thr)
| |
| X | g.100407467G>A | CA517748118 | PCDH19 | c.1131C>T (p.Asp377=)
| gnomAD v4 |
| X | g.100407467G>C | CA414004074 | PCDH19 | c.1131C>G (p.Asp377Glu)
| |
| X | g.100407467G>T | CA414004073 | PCDH19 | c.1131C>A (p.Asp377Glu)
| |
| X | g.100407468T>A | CA414004075 | PCDH19 | c.1130A>T (p.Asp377Val)
| ClinVar dbSNP |
| X | g.100407468T>C | CA414004076 | PCDH19 | c.1130A>G (p.Asp377Gly)
| COSMIC |
| X | g.100407468T>G | CA414004078 | PCDH19 | c.1130A>C (p.Asp377Ala)
| |
| X | g.100407468T= | CA2447976730 | PCDH19 | c.1130A= (p.Asp377=)
| |
| X | g.100407469C>A | CA414004079 | PCDH19 | c.1129G>T (p.Asp377Tyr)
| |
| X | g.100407469C= | CA2447976731 | PCDH19 | c.1129G= (p.Asp377=)
| |
| X | g.100407469C>G | CA414004080 | PCDH19 | c.1129G>C (p.Asp377His)
| ClinVar dbSNP |
| X | g.100407469C>T | CA414004082 | PCDH19 | c.1129G>A (p.Asp377Asn)
| ClinVar |
| X | g.100407470G>A | CA517748123 | PCDH19 | c.1128C>T (p.Arg376=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407470G>C | CA517748126 | PCDH19 | c.1128C>G (p.Arg376=)
| |
| X | g.100407470G= | CA2447976732 | PCDH19 | c.1128C= (p.Arg376=)
| |
| X | g.100407470G>T | CA517748124 | PCDH19 | c.1128C>A (p.Arg376=)
| |
| X | g.100407471C>A | CA414004086 | PCDH19 | c.1127G>T (p.Arg376Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407471C= | CA2447976733 | PCDH19 | c.1127G= (p.Arg376=)
| |
| X | g.100407471C>G | CA414004089 | PCDH19 | c.1127G>C (p.Arg376Pro)
| |
| X | g.100407471C>T | CA414004092 | PCDH19 | c.1127G>A (p.Arg376His)
| gnomAD v4 COSMIC |
| X | g.100407472G>A | CA414004095 | PCDH19 | c.1126C>T (p.Arg376Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100407472G>C | CA414004097 | PCDH19 | c.1126C>G (p.Arg376Gly)
| dbSNP |
| X | g.100407472G= | CA2447976734 | PCDH19 | c.1126C= (p.Arg376=)
| |
| X | g.100407472G>T | CA414004099 | PCDH19 | c.1126C>A (p.Arg376Ser)
| |
| X | g.100407473A>C | CA414004104 | PCDH19 | c.1125T>G (p.Asp375Glu)
| |
| X | g.100407473A>G | CA517748133 | PCDH19 | c.1125T>C (p.Asp375=)
| |
| X | g.100407473A>T | CA414004103 | PCDH19 | c.1125T>A (p.Asp375Glu)
| |
| X | g.100407474T>A | CA414004107 | PCDH19 | c.1124A>T (p.Asp375Val)
| ClinVar dbSNP |
| X | g.100407474T>C | CA414004108 | PCDH19 | c.1124A>G (p.Asp375Gly)
| ClinVar |
| X | g.100407474T>G | CA414004109 | PCDH19 | c.1124A>C (p.Asp375Ala)
| |
| X | g.100407475C>A | CA414004112 | PCDH19 | c.1123G>T (p.Asp375Tyr)
| |
| X | g.100407475C= | CA2447976736 | PCDH19 | c.1123G= (p.Asp375=)
| |
| X | g.100407475C>G | CA414004113 | PCDH19 | c.1123G>C (p.Asp375His)
| |
| X | g.100407475C>T | CA414004114 | PCDH19 | c.1123G>A (p.Asp375Asn)
| ClinVar dbSNP |
| X | g.100407475_100407477delinsCAG | CA2447976735 | PCDH19 | c.1121_1123delinsCTG (p.Ser374=)
| |
| X | g.100407476A>C | CA517748138 | PCDH19 | c.1122T>G (p.Ser374=)
| |
| X | g.100407476A>G | CA517748139 | PCDH19 | c.1122T>C (p.Ser374=)
| |
| X | g.100407476A>T | CA517748141 | PCDH19 | c.1122T>A (p.Ser374=)
| |
| X | g.100407477_100407478del | CA891843593 | PCDH19 | c.1121_1122del (p.Ser374Ter)
| ClinVar dbSNP |
| X | g.100407477G>A | CA414004117 | PCDH19 | c.1121C>T (p.Ser374Phe)
| |
| X | g.100407477G>C | CA414004118 | PCDH19 | c.1121C>G (p.Ser374Cys)
| gnomAD v4 |
| X | g.100407477G>T | CA414004122 | PCDH19 | c.1121C>A (p.Ser374Tyr)
| |
| X | g.100407478A= | CA2447976737 | PCDH19 | c.1120T= (p.Ser374=)
| |
| X | g.100407478A>C | CA414004126 | PCDH19 | c.1120T>G (p.Ser374Ala)
| |
| X | g.100407478A>G | CA414004128 | PCDH19 | c.1120T>C (p.Ser374Pro)
| ClinVar dbSNP |
| X | g.100407478A>T | CA414004129 | PCDH19 | c.1120T>A (p.Ser374Thr)
| ClinVar dbSNP |
| X | g.100407479C>A | CA517748146 | PCDH19 | c.1119G>T (p.Val373=)
| |
| X | g.100407479C>G | CA517748147 | PCDH19 | c.1119G>C (p.Val373=)
| |
| X | g.100407479C>T | CA517748148 | PCDH19 | c.1119G>A (p.Val373=)
| |
| X | g.100407480A>C | CA414004131 | PCDH19 | c.1118T>G (p.Val373Gly)
| |
| X | g.100407480A>G | CA414004132 | PCDH19 | c.1118T>C (p.Val373Ala)
| |
| X | g.100407480A>T | CA414004130 | PCDH19 | c.1118T>A (p.Val373Glu)
| |
| X | g.100407480dup | CA2573159043 | PCDH19 | c.1118dup (p.Ser374ValfsTer2)
| ClinVar dbSNP |
| X | g.100407481C>A | CA414004133 | PCDH19 | c.1117G>T (p.Val373Leu)
| |
| X | g.100407481C>G | CA414004134 | PCDH19 | c.1117G>C (p.Val373Leu)
| |
| X | g.100407481C>T | CA414004135 | PCDH19 | c.1117G>A (p.Val373Met)
| gnomAD v4 |
| X | g.100407482C>A | CA517748152 | PCDH19 | c.1116G>T (p.Arg372=)
| |
| X | g.100407482C= | CA2447976738 | PCDH19 | c.1116G= (p.Arg372=)
| |
| X | g.100407482C>G | CA517748153 | PCDH19 | c.1116G>C (p.Arg372=)
| |
| X | g.100407482C>T | CA333826072 | PCDH19 | c.1116G>A (p.Arg372=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407483C>A | CA414004136 | PCDH19 | c.1115G>T (p.Arg372Leu)
| |
| X | g.100407483C>G | CA414004137 | PCDH19 | c.1115G>C (p.Arg372Pro)
| |
| X | g.100407483C>T | CA414004138 | PCDH19 | c.1115G>A (p.Arg372Gln)
| |
| X | g.100407484G>A | CA316336 | PCDH19 | c.1114C>T (p.Arg372Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407484G>C | CA414004139 | PCDH19 | c.1114C>G (p.Arg372Gly)
| |
| X | g.100407484G= | CA2447976739 | PCDH19 | c.1114C= (p.Arg372=)
| |
| X | g.100407484G>T | CA517748161 | PCDH19 | c.1114C>A (p.Arg372=)
| |
| X | g.100407485C>A | CA517748165 | PCDH19 | c.1113G>T (p.Val371=)
| |
| X | g.100407485C>G | CA517748162 | PCDH19 | c.1113G>C (p.Val371=)
| |
| X | g.100407485C>T | CA517748164 | PCDH19 | c.1113G>A (p.Val371=)
| |
| X | g.100407486A>C | CA414004141 | PCDH19 | c.1112T>G (p.Val371Gly)
| |
| X | g.100407486A>G | CA414004143 | PCDH19 | c.1112T>C (p.Val371Ala)
| COSMIC |
| X | g.100407486A>T | CA414004145 | PCDH19 | c.1112T>A (p.Val371Glu)
| |
| X | g.100407487C>A | CA414004149 | PCDH19 | c.1111G>T (p.Val371Leu)
| COSMIC |
| X | g.100407487C>G | CA414004152 | PCDH19 | c.1111G>C (p.Val371Leu)
| |
| X | g.100407487C>T | CA414004154 | PCDH19 | c.1111G>A (p.Val371Met)
| |
| X | g.100407488del | CA2557613901 | PCDH19 | c.1111del (p.Val371CysfsTer?)
| |
| X | g.100407488C>A | CA414004160 | PCDH19 | c.1110G>T (p.Leu370Phe)
| |
| X | g.100407488C= | CA2447976740 | PCDH19 | c.1110G= (p.Leu370=)
| |
| X | g.100407488C>G | CA414004158 | PCDH19 | c.1110G>C (p.Leu370Phe)
| |
| X | g.100407488C>T | CA517748170 | PCDH19 | c.1110G>A (p.Leu370=)
| ClinVar dbSNP |
| X | g.100407489A>C | CA414004162 | PCDH19 | c.1109T>G (p.Leu370Trp)
| |
| X | g.100407489A>G | CA414004165 | PCDH19 | c.1109T>C (p.Leu370Ser)
| |
| X | g.100407489A>T | CA414004167 | PCDH19 | c.1109T>A (p.Leu370Ter)
| |
| X | g.100407490A>C | CA414004170 | PCDH19 | c.1108T>G (p.Leu370Val)
| |
| X | g.100407490A>G | CA517748182 | PCDH19 | c.1108T>C (p.Leu370=)
| |
| X | g.100407490A>T | CA414004172 | PCDH19 | c.1108T>A (p.Leu370Met)
| |
| X | g.100407491G>A | CA10468916 | PCDH19 | c.1107C>T (p.Ala369=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407491G>C | CA517748186 | PCDH19 | c.1107C>G (p.Ala369=)
| |
| X | g.100407491G= | CA2447976741 | PCDH19 | c.1107C= (p.Ala369=)
| |
| X | g.100407491G>T | CA517748185 | PCDH19 | c.1107C>A (p.Ala369=)
| |
| X | g.100407491_100407492insT | CA2538066410 | PCDH19 | c.1106_1107insA (p.Val371GlyfsTer5)
| |
| X | g.100407492G>A | CA414004186 | PCDH19 | c.1106C>T (p.Ala369Val)
| |
| X | g.100407492G>C | CA414004184 | PCDH19 | c.1106C>G (p.Ala369Gly)
| |
| X | g.100407492G>T | CA414004182 | PCDH19 | c.1106C>A (p.Ala369Asp)
| |
| X | g.100407493C>A | CA414004190 | PCDH19 | c.1105G>T (p.Ala369Ser)
| |
| X | g.100407493C= | CA2447976742 | PCDH19 | c.1105G= (p.Ala369=)
| |
| X | g.100407493C>G | CA414004192 | PCDH19 | c.1105G>C (p.Ala369Pro)
| ClinVar dbSNP |
| X | g.100407493C>T | CA414004195 | PCDH19 | c.1105G>A (p.Ala369Thr)
| COSMIC |
| X | g.100407494G>A | CA517748191 | PCDH19 | c.1104C>T (p.Ile368=)
| COSMIC |
| X | g.100407494G>C | CA414004197 | PCDH19 | c.1104C>G (p.Ile368Met)
| ClinVar |
| X | g.100407494G>T | CA517748192 | PCDH19 | c.1104C>A (p.Ile368=)
| gnomAD v4 |
| X | g.100407495A>C | CA414004200 | PCDH19 | c.1103T>G (p.Ile368Ser)
| |
| X | g.100407495A>G | CA414004203 | PCDH19 | c.1103T>C (p.Ile368Thr)
| |
| X | g.100407495A>T | CA414004205 | PCDH19 | c.1103T>A (p.Ile368Asn)
| |
| X | g.100407496T>A | CA414004209 | PCDH19 | c.1102A>T (p.Ile368Phe)
| COSMIC |
| X | g.100407496T>C | CA414004222 | PCDH19 | c.1102A>G (p.Ile368Val)
| |
| X | g.100407496T>G | CA414004215 | PCDH19 | c.1102A>C (p.Ile368Leu)
| |
| X | g.100407496_100407497delinsTC | CA2447976743 | PCDH19 | c.1101_1102delinsGA (p.Val367=)
| |
