| X | g.100407358C>A | CA316342 | PCDH19 | c.1240G>T (p.Glu414Ter)
| ClinVar dbSNP |
| X | g.100407358C= | CA2447976695 | PCDH19 | c.1240G= (p.Glu414=)
| |
| X | g.100407358C>G | CA414003509 | PCDH19 | c.1240G>C (p.Glu414Gln)
| |
| X | g.100407358C>T | CA414003512 | PCDH19 | c.1240G>A (p.Glu414Lys)
| ClinVar dbSNP |
| X | g.100407359G>A | CA517747933 | PCDH19 | c.1239C>T (p.Arg413=)
| dbSNP gnomAD v4 |
| X | g.100407359G>C | CA517747935 | PCDH19 | c.1239C>G (p.Arg413=)
| |
| X | g.100407359G= | CA2447976696 | PCDH19 | c.1239C= (p.Arg413=)
| |
| X | g.100407359G>T | CA517747934 | PCDH19 | c.1239C>A (p.Arg413=)
| |
| X | g.100407360C>A | CA414003513 | PCDH19 | c.1238G>T (p.Arg413Leu)
| |
| X | g.100407360C>G | CA414003514 | PCDH19 | c.1238G>C (p.Arg413Pro)
| ClinVar dbSNP |
| X | g.100407360C>T | CA414003520 | PCDH19 | c.1238G>A (p.Arg413His)
| |
| X | g.100407361G>A | CA414003522 | PCDH19 | c.1237C>T (p.Arg413Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407361G>C | CA414003524 | PCDH19 | c.1237C>G (p.Arg413Gly)
| |
| X | g.100407361G= | CA2447976697 | PCDH19 | c.1237C= (p.Arg413=)
| |
| X | g.100407361G>T | CA414003527 | PCDH19 | c.1237C>A (p.Arg413Ser)
| COSMIC |
| X | g.100407362G>A | CA517747936 | PCDH19 | c.1236C>T (p.Asp412=)
| |
| X | g.100407362G>C | CA414003532 | PCDH19 | c.1236C>G (p.Asp412Glu)
| |
| X | g.100407362G>T | CA414003530 | PCDH19 | c.1236C>A (p.Asp412Glu)
| |
| X | g.100407366_100407373del | CA2695235319 | PCDH19 | c.1229_1236del (p.Arg410ProfsTer?)
| |
| X | g.100407363T>A | CA414003533 | PCDH19 | c.1235A>T (p.Asp412Val)
| |
| X | g.100407363T>C | CA414003534 | PCDH19 | c.1235A>G (p.Asp412Gly)
| |
| X | g.100407363T>G | CA414003535 | PCDH19 | c.1235A>C (p.Asp412Ala)
| |
| X | g.100407364C>A | CA414003536 | PCDH19 | c.1234G>T (p.Asp412Tyr)
| |
| X | g.100407364C>G | CA414003537 | PCDH19 | c.1234G>C (p.Asp412His)
| |
| X | g.100407364C>T | CA414003538 | PCDH19 | c.1234G>A (p.Asp412Asn)
| gnomAD v4 |
| X | g.100407365C>A | CA517747937 | PCDH19 | c.1233G>T (p.Leu411=)
| |
| X | g.100407365C>G | CA517747939 | PCDH19 | c.1233G>C (p.Leu411=)
| |
| X | g.100407365C>T | CA517747938 | PCDH19 | c.1233G>A (p.Leu411=)
| COSMIC |
| X | g.100407366A>C | CA414003539 | PCDH19 | c.1232T>G (p.Leu411Arg)
| |
| X | g.100407366A>G | CA414003540 | PCDH19 | c.1232T>C (p.Leu411Pro)
| |
| X | g.100407366A>T | CA414003541 | PCDH19 | c.1232T>A (p.Leu411Gln)
| ClinVar |
| X | g.100407367G>A | CA517747940 | PCDH19 | c.1231C>T (p.Leu411=)
| |
| X | g.100407367G>C | CA414003542 | PCDH19 | c.1231C>G (p.Leu411Val)
| |
| X | g.100407367G>T | CA414003544 | PCDH19 | c.1231C>A (p.Leu411Met)
| |
| X | g.100407368C>A | CA10468906 | PCDH19 | c.1230G>T (p.Arg410=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407368C= | CA2447976698 | PCDH19 | c.1230G= (p.Arg410=)
| |
| X | g.100407368C>G | CA517747941 | PCDH19 | c.1230G>C (p.Arg410=)
| |
| X | g.100407368C>T | CA517747942 | PCDH19 | c.1230G>A (p.Arg410=)
| |
| X | g.100407369C>A | CA414003556 | PCDH19 | c.1229G>T (p.Arg410Leu)
| |
| X | g.100407369C>G | CA414003559 | PCDH19 | c.1229G>C (p.Arg410Pro)
| |
| X | g.100407369C>T | CA414003550 | PCDH19 | c.1229G>A (p.Arg410Gln)
| |
| X | g.100407370G>A | CA414003563 | PCDH19 | c.1228C>T (p.Arg410Trp)
| COSMIC |
| X | g.100407370G>C | CA414003565 | PCDH19 | c.1228C>G (p.Arg410Gly)
| ClinVar |
| X | g.100407370G>T | CA517747943 | PCDH19 | c.1228C>A (p.Arg410=)
| |
| X | g.100407371T>A | CA517747944 | PCDH19 | c.1227A>T (p.Gly409=)
| |
| X | g.100407371T>C | CA517747945 | PCDH19 | c.1227A>G (p.Gly409=)
| |
| X | g.100407371T>G | CA517747946 | PCDH19 | c.1227A>C (p.Gly409=)
| |
| X | g.100407372C>A | CA414003567 | PCDH19 | c.1226G>T (p.Gly409Val)
| |
| X | g.100407372C= | CA2447976699 | PCDH19 | c.1226G= (p.Gly409=)
| |
| X | g.100407372C>G | CA10468907 | PCDH19 | c.1226G>C (p.Gly409Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407372C>T | CA414003569 | PCDH19 | c.1226G>A (p.Gly409Glu)
| |
| X | g.100407373C>A | CA414003577 | PCDH19 | c.1225G>T (p.Gly409Ter)
| |
| X | g.100407373C= | CA2447976700 | PCDH19 | c.1225G= (p.Gly409=)
| |
| X | g.100407373C>G | CA414003573 | PCDH19 | c.1225G>C (p.Gly409Arg)
| ClinVar dbSNP |
| X | g.100407373C>T | CA414003575 | PCDH19 | c.1225G>A (p.Gly409Arg)
| dbSNP gnomAD v4 |
| X | g.100407374G>A | CA517747947 | PCDH19 | c.1224C>T (p.Asp408=)
| COSMIC |
| X | g.100407374G>C | CA414003582 | PCDH19 | c.1224C>G (p.Asp408Glu)
| |
| X | g.100407374G>T | CA414003584 | PCDH19 | c.1224C>A (p.Asp408Glu)
| |
| X | g.100407375T>A | CA414003585 | PCDH19 | c.1223A>T (p.Asp408Val)
| |
| X | g.100407375T>C | CA414003586 | PCDH19 | c.1223A>G (p.Asp408Gly)
| |
| X | g.100407375T>G | CA414003588 | PCDH19 | c.1223A>C (p.Asp408Ala)
| |
| X | g.100407376C>A | CA414003604 | PCDH19 | c.1222G>T (p.Asp408Tyr)
| |
| X | g.100407376C>G | CA414003601 | PCDH19 | c.1222G>C (p.Asp408His)
| |
| X | g.100407376C>T | CA414003591 | PCDH19 | c.1222G>A (p.Asp408Asn)
| |
| X | g.100407377C>A | CA517747948 | PCDH19 | c.1221G>T (p.Val407=)
| |
| X | g.100407377C>G | CA517747949 | PCDH19 | c.1221G>C (p.Val407=)
| |
| X | g.100407377C>T | CA517747950 | PCDH19 | c.1221G>A (p.Val407=)
| |
| X | g.100407378A>C | CA414003608 | PCDH19 | c.1220T>G (p.Val407Gly)
| |
| X | g.100407378A>G | CA414003613 | PCDH19 | c.1220T>C (p.Val407Ala)
| |
| X | g.100407378A>T | CA414003611 | PCDH19 | c.1220T>A (p.Val407Glu)
| |
| X | g.100407379C>A | CA414003615 | PCDH19 | c.1219G>T (p.Val407Leu)
| |
| X | g.100407379C>G | CA414003617 | PCDH19 | c.1219G>C (p.Val407Leu)
| |
| X | g.100407379C>T | CA414003619 | PCDH19 | c.1219G>A (p.Val407Met)
| |
| X | g.100407380C>A | CA517747951 | PCDH19 | c.1218G>T (p.Leu406=)
| |
| X | g.100407380C= | CA2447976701 | PCDH19 | c.1218G= (p.Leu406=)
| |
| X | g.100407380C>G | CA10468908 | PCDH19 | c.1218G>C (p.Leu406=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407380C>T | CA517747952 | PCDH19 | c.1218G>A (p.Leu406=)
| |
| X | g.100407381A>C | CA414003626 | PCDH19 | c.1217T>G (p.Leu406Arg)
| |
| X | g.100407381A>G | CA414003628 | PCDH19 | c.1217T>C (p.Leu406Pro)
| |
| X | g.100407381A>T | CA414003630 | PCDH19 | c.1217T>A (p.Leu406Gln)
| |
| X | g.100407382G>A | CA517747955 | PCDH19 | c.1216C>T (p.Leu406=)
| |
| X | g.100407382G>C | CA414003634 | PCDH19 | c.1216C>G (p.Leu406Val)
| |
| X | g.100407382G>T | CA414003635 | PCDH19 | c.1216C>A (p.Leu406Met)
| |
| X | g.100407383A>C | CA414003636 | PCDH19 | c.1215T>G (p.Ile405Met)
| |
| X | g.100407383A>G | CA517747956 | PCDH19 | c.1215T>C (p.Ile405=)
| |
| X | g.100407383A>T | CA517747957 | PCDH19 | c.1215T>A (p.Ile405=)
| |
| X | g.100407384A>C | CA414003639 | PCDH19 | c.1214T>G (p.Ile405Ser)
| |
| X | g.100407384A>G | CA414003641 | PCDH19 | c.1214T>C (p.Ile405Thr)
| |
| X | g.100407384A>T | CA414003642 | PCDH19 | c.1214T>A (p.Ile405Asn)
| |
| X | g.100407385T>A | CA414003645 | PCDH19 | c.1213A>T (p.Ile405Phe)
| |
| X | g.100407385T>C | CA414003652 | PCDH19 | c.1213A>G (p.Ile405Val)
| |
| X | g.100407385T>G | CA414003647 | PCDH19 | c.1213A>C (p.Ile405Leu)
| |
| X | g.100407386A>C | CA517747961 | PCDH19 | c.1212T>G (p.Thr404=)
| gnomAD v4 |
| X | g.100407386A>G | CA517747962 | PCDH19 | c.1212T>C (p.Thr404=)
| |
| X | g.100407386A>T | CA517747963 | PCDH19 | c.1212T>A (p.Thr404=)
| |
| X | g.100407387G>A | CA414003656 | PCDH19 | c.1211C>T (p.Thr404Ile)
| ClinVar dbSNP |
| X | g.100407387G>C | CA414003659 | PCDH19 | c.1211C>G (p.Thr404Ser)
| |
| X | g.100407387G>T | CA414003660 | PCDH19 | c.1211C>A (p.Thr404Asn)
| |
| X | g.100407388T>A | CA414003663 | PCDH19 | c.1210A>T (p.Thr404Ser)
| |
| X | g.100407388T>C | CA10468909 | PCDH19 | c.1210A>G (p.Thr404Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407388T>G | CA414003666 | PCDH19 | c.1210A>C (p.Thr404Pro)
| |
| X | g.100407388T= | CA2447976702 | PCDH19 | c.1210A= (p.Thr404=)
| |
| X | g.100407389G>A | CA316239 | PCDH19 | c.1209C>T (p.Ser403=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407389G>C | CA517747967 | PCDH19 | c.1209C>G (p.Ser403=)
| |
| X | g.100407389G= | CA2447976703 | PCDH19 | c.1209C= (p.Ser403=)
| |
| X | g.100407389G>T | CA517747968 | PCDH19 | c.1209C>A (p.Ser403=)
| gnomAD v4 |
| X | g.100407390G>A | CA414003669 | PCDH19 | c.1208C>T (p.Ser403Phe)
| |
| X | g.100407390G>C | CA414003671 | PCDH19 | c.1208C>G (p.Ser403Cys)
| |
| X | g.100407390G>T | CA414003674 | PCDH19 | c.1208C>A (p.Ser403Tyr)
| |
| X | g.100407391A>C | CA414003682 | PCDH19 | c.1207T>G (p.Ser403Ala)
| |
| X | g.100407391A>G | CA414003680 | PCDH19 | c.1207T>C (p.Ser403Pro)
| |
| X | g.100407391A>T | CA414003678 | PCDH19 | c.1207T>A (p.Ser403Thr)
| |
| X | g.100407392del | CA915951272 | PCDH19 | c.1206del (p.Ser403ProfsTer?)
| ClinVar |
| X | g.100407392G>A | CA517747970 | PCDH19 | c.1206C>T (p.Phe402=)
| |
| X | g.100407392G>C | CA414003686 | PCDH19 | c.1206C>G (p.Phe402Leu)
| |
| X | g.100407392G>T | CA414003684 | PCDH19 | c.1206C>A (p.Phe402Leu)
| |
| X | g.100407393A= | CA2447976704 | PCDH19 | c.1205T= (p.Phe402=)
| |
| X | g.100407393A>C | CA414003693 | PCDH19 | c.1205T>G (p.Phe402Cys)
| dbSNP |
| X | g.100407393A>G | CA414003695 | PCDH19 | c.1205T>C (p.Phe402Ser)
| |
| X | g.100407393A>T | CA414003696 | PCDH19 | c.1205T>A (p.Phe402Tyr)
| |
| X | g.100407394A>C | CA414003697 | PCDH19 | c.1204T>G (p.Phe402Val)
| |
| X | g.100407394A>G | CA414003698 | PCDH19 | c.1204T>C (p.Phe402Leu)
| |
| X | g.100407394A>T | CA414003699 | PCDH19 | c.1204T>A (p.Phe402Ile)
| |
| X | g.100407395G>A | CA517747972 | PCDH19 | c.1203C>T (p.Ser401=)
| |
| X | g.100407395G>C | CA414003704 | PCDH19 | c.1203C>G (p.Ser401Arg)
| |
| X | g.100407395G>T | CA414003707 | PCDH19 | c.1203C>A (p.Ser401Arg)
| COSMIC |
| 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)
| |
