| X | g.100407253_100407255dup | CA2695235317 | PCDH19 | c.1345_1347dup (p.Asn449_His450insAsn)
| |
| X | g.100407254G>A | CA517747827 | PCDH19 | c.1344C>T (p.Asp448=)
| |
| X | g.100407254G>C | CA414002931 | PCDH19 | c.1344C>G (p.Asp448Glu)
| |
| X | g.100407254G>T | CA414002932 | PCDH19 | c.1344C>A (p.Asp448Glu)
| |
| X | g.100407255T>A | CA414002933 | PCDH19 | c.1343A>T (p.Asp448Val)
| |
| X | g.100407255T>C | CA414002935 | PCDH19 | c.1343A>G (p.Asp448Gly)
| ClinVar dbSNP |
| X | g.100407255T>G | CA414002934 | PCDH19 | c.1343A>C (p.Asp448Ala)
| |
| X | g.100407255T= | CA2447976653 | PCDH19 | c.1343A= (p.Asp448=)
| |
| X | g.100407256C>A | CA414002936 | PCDH19 | c.1342G>T (p.Asp448Tyr)
| ClinVar dbSNP |
| X | g.100407256C= | CA2447976654 | PCDH19 | c.1342G= (p.Asp448=)
| |
| X | g.100407256C>G | CA414002937 | PCDH19 | c.1342G>C (p.Asp448His)
| |
| X | g.100407256C>T | CA414002938 | PCDH19 | c.1342G>A (p.Asp448Asn)
| ClinVar dbSNP |
| X | g.100407257A>C | CA414002939 | PCDH19 | c.1341T>G (p.Asn447Lys)
| |
| X | g.100407257A>G | CA517747830 | PCDH19 | c.1341T>C (p.Asn447=)
| |
| X | g.100407257A>T | CA414002940 | PCDH19 | c.1341T>A (p.Asn447Lys)
| |
| X | g.100407258T>A | CA414002941 | PCDH19 | c.1340A>T (p.Asn447Ile)
| |
| X | g.100407258T>C | CA414002942 | PCDH19 | c.1340A>G (p.Asn447Ser)
| |
| X | g.100407258T>G | CA414002944 | PCDH19 | c.1340A>C (p.Asn447Thr)
| ClinVar |
| X | g.100407259T>A | CA414002947 | PCDH19 | c.1339A>T (p.Asn447Tyr)
| dbSNP |
| X | g.100407259T>C | CA414002949 | PCDH19 | c.1339A>G (p.Asn447Asp)
| ClinVar dbSNP |
| X | g.100407259T>G | CA414002951 | PCDH19 | c.1339A>C (p.Asn447His)
| |
| X | g.100407260T>A | CA414002953 | PCDH19 | c.1338A>T (p.Glu446Asp)
| |
| X | g.100407260T>C | CA517747834 | PCDH19 | c.1338A>G (p.Glu446=)
| |
| X | g.100407260T>G | CA414002955 | PCDH19 | c.1338A>C (p.Glu446Asp)
| |
| X | g.100407261T>A | CA414002958 | PCDH19 | c.1337A>T (p.Glu446Val)
| |
| X | g.100407261T>C | CA414002956 | PCDH19 | c.1337A>G (p.Glu446Gly)
| |
| X | g.100407261T>G | CA414002957 | PCDH19 | c.1337A>C (p.Glu446Ala)
| |
| X | g.100407262C>A | CA414002959 | PCDH19 | c.1336G>T (p.Glu446Ter)
| dbSNP gnomAD v4 |
| X | g.100407262C= | CA2447976655 | PCDH19 | c.1336G= (p.Glu446=)
| |
| X | g.100407262C>G | CA414002961 | PCDH19 | c.1336G>C (p.Glu446Gln)
| |
| X | g.100407262C>T | CA414002962 | PCDH19 | c.1336G>A (p.Glu446Lys)
| COSMIC |
| X | g.100407263G>A | CA517747835 | PCDH19 | c.1335C>T (p.Asp445=)
| |
| X | g.100407263G>C | CA16616395 | PCDH19 | c.1335C>G (p.Asp445Glu)
| ClinVar dbSNP |
| X | g.100407263G= | CA2447976656 | PCDH19 | c.1335C= (p.Asp445=)
| |
| X | g.100407263G>T | CA316348 | PCDH19 | c.1335C>A (p.Asp445Glu)
| ClinVar dbSNP |
| X | g.100407264T>A | CA414002964 | PCDH19 | c.1334A>T (p.Asp445Val)
| |
| X | g.100407264T>C | CA414002966 | PCDH19 | c.1334A>G (p.Asp445Gly)
| |
| X | g.100407264T>G | CA414002969 | PCDH19 | c.1334A>C (p.Asp445Ala)
| |
| X | g.100407265C>A | CA414002973 | PCDH19 | c.1333G>T (p.Asp445Tyr)
| |
| X | g.100407265C>G | CA414002979 | PCDH19 | c.1333G>C (p.Asp445His)
| |
| X | g.100407265C>T | CA414002980 | PCDH19 | c.1333G>A (p.Asp445Asn)
| |
| X | g.100407266A>C | CA517747836 | PCDH19 | c.1332T>G (p.Thr444=)
| gnomAD v4 |
| X | g.100407266A>G | CA517747837 | PCDH19 | c.1332T>C (p.Thr444=)
| |
| X | g.100407266A>T | CA517747838 | PCDH19 | c.1332T>A (p.Thr444=)
| |
| X | g.100407267G>A | CA414002983 | PCDH19 | c.1331C>T (p.Thr444Ile)
| |
| X | g.100407267G>C | CA414002988 | PCDH19 | c.1331C>G (p.Thr444Ser)
| |
| X | g.100407267G>T | CA414002985 | PCDH19 | c.1331C>A (p.Thr444Asn)
| |
| X | g.100407268T>A | CA414002992 | PCDH19 | c.1330A>T (p.Thr444Ser)
| |
| X | g.100407268T>C | CA316245 | PCDH19 | c.1330A>G (p.Thr444Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407268T>G | CA414002995 | PCDH19 | c.1330A>C (p.Thr444Pro)
| |
| X | g.100407268T= | CA2447976657 | PCDH19 | c.1330A= (p.Thr444=)
| |
| X | g.100407269G>A | CA517747840 | PCDH19 | c.1329C>T (p.Ile443=)
| dbSNP |
| X | g.100407269G>C | CA414002998 | PCDH19 | c.1329C>G (p.Ile443Met)
| |
| X | g.100407269G= | CA2447976658 | PCDH19 | c.1329C= (p.Ile443=)
| |
| X | g.100407269G>T | CA517747841 | PCDH19 | c.1329C>A (p.Ile443=)
| |
| X | g.100407270A>C | CA414003001 | PCDH19 | c.1328T>G (p.Ile443Ser)
| |
| X | g.100407270A>G | CA414003003 | PCDH19 | c.1328T>C (p.Ile443Thr)
| |
| X | g.100407270A>T | CA414003005 | PCDH19 | c.1328T>A (p.Ile443Asn)
| |
| X | g.100407271T>A | CA414003007 | PCDH19 | c.1327A>T (p.Ile443Phe)
| |
| X | g.100407271T>C | CA414003018 | PCDH19 | c.1327A>G (p.Ile443Val)
| |
| X | g.100407271T>G | CA414003019 | PCDH19 | c.1327A>C (p.Ile443Leu)
| gnomAD v4 |
| X | g.100407271_100407272insCTT | CA2528467898 | PCDH19 | c.1327_1328insAGA (p.Leu442_Ile443insLys)
| |
| X | g.100407272G>A | CA517747845 | PCDH19 | c.1326C>T (p.Leu442=)
| |
| X | g.100407272G>C | CA517747846 | PCDH19 | c.1326C>G (p.Leu442=)
| |
| X | g.100407272G>T | CA517747847 | PCDH19 | c.1326C>A (p.Leu442=)
| |
| X | g.100407273A>C | CA414003022 | PCDH19 | c.1325T>G (p.Leu442Arg)
| |
| X | g.100407273A>G | CA414003024 | PCDH19 | c.1325T>C (p.Leu442Pro)
| |
| X | g.100407273A>T | CA414003027 | PCDH19 | c.1325T>A (p.Leu442His)
| |
| X | g.100407274del | CA2543824684 | PCDH19 | c.1324del (p.Leu442SerfsTer?)
| |
| X | g.100407274G>A | CA414003033 | PCDH19 | c.1324C>T (p.Leu442Phe)
| |
| X | g.100407274G>C | CA414003031 | PCDH19 | c.1324C>G (p.Leu442Val)
| gnomAD v4 |
| X | g.100407274G>T | CA414003029 | PCDH19 | c.1324C>A (p.Leu442Ile)
| |
| X | g.100407275C>A | CA517747851 | PCDH19 | c.1323G>T (p.Val441=)
| |
| X | g.100407275C>G | CA517747852 | PCDH19 | c.1323G>C (p.Val441=)
| |
| X | g.100407275C>T | CA517747853 | PCDH19 | c.1323G>A (p.Val441=)
| |
| X | g.100407276A= | CA2447976659 | PCDH19 | c.1322T= (p.Val441=)
| |
| X | g.100407276A>C | CA414003036 | PCDH19 | c.1322T>G (p.Val441Gly)
| |
| X | g.100407276A>G | CA414003038 | PCDH19 | c.1322T>C (p.Val441Ala)
| |
| X | g.100407276A>T | CA121293 | PCDH19 | c.1322T>A (p.Val441Glu)
| ClinVar dbSNP |
| X | g.100407277C>A | CA414003042 | PCDH19 | c.1321G>T (p.Val441Leu)
| ClinVar |
| X | g.100407277C= | CA2447976660 | PCDH19 | c.1321G= (p.Val441=)
| |
| X | g.100407277C>G | CA316423 | PCDH19 | c.1321G>C (p.Val441Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407277C>T | CA414003045 | PCDH19 | c.1321G>A (p.Val441Met)
| dbSNP |
| X | g.100407277_100407278del | CA2503610296 | PCDH19 | c.1320_1321del (p.Val441AlafsTer4)
| |
| X | g.100407278G>A | CA517747854 | PCDH19 | c.1320C>T (p.Thr440=)
| dbSNP gnomAD v4 COSMIC |
| X | g.100407278G>C | CA517747855 | PCDH19 | c.1320C>G (p.Thr440=)
| |
| X | g.100407278G= | CA2447976661 | PCDH19 | c.1320C= (p.Thr440=)
| |
| X | g.100407278G>T | CA517747856 | PCDH19 | c.1320C>A (p.Thr440=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407279G>A | CA10468898 | PCDH19 | c.1319C>T (p.Thr440Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407279G>C | CA414003050 | PCDH19 | c.1319C>G (p.Thr440Ser)
| |
| X | g.100407279G= | CA2447976662 | PCDH19 | c.1319C= (p.Thr440=)
| |
| X | g.100407279G>T | CA414003052 | PCDH19 | c.1319C>A (p.Thr440Asn)
| |
| X | g.100407280T>A | CA414003054 | PCDH19 | c.1318A>T (p.Thr440Ser)
| |
| X | g.100407280T>C | CA414003056 | PCDH19 | c.1318A>G (p.Thr440Ala)
| |
| X | g.100407280T>G | CA414003062 | PCDH19 | c.1318A>C (p.Thr440Pro)
| |
| X | g.100407281A= | CA2447976663 | PCDH19 | c.1317T= (p.Phe439=)
| |
| X | g.100407281A>C | CA414003066 | PCDH19 | c.1317T>G (p.Phe439Leu)
| |
| X | g.100407281A>G | CA517747858 | PCDH19 | c.1317T>C (p.Phe439=)
| dbSNP |
| X | g.100407281A>T | CA414003074 | PCDH19 | c.1317T>A (p.Phe439Leu)
| |
| X | g.100407282A>C | CA414003088 | PCDH19 | c.1316T>G (p.Phe439Cys)
| |
| X | g.100407282A>G | CA414003085 | PCDH19 | c.1316T>C (p.Phe439Ser)
| |
| X | g.100407282A>T | CA414003077 | PCDH19 | c.1316T>A (p.Phe439Tyr)
| |
| X | g.100407283A>C | CA414003091 | PCDH19 | c.1315T>G (p.Phe439Val)
| |
| X | g.100407283A>G | CA414003093 | PCDH19 | c.1315T>C (p.Phe439Leu)
| |
| X | g.100407283A>T | CA414003094 | PCDH19 | c.1315T>A (p.Phe439Ile)
| |
| X | g.100407283_100407284del | CA2695235318 | PCDH19 | c.1314_1315del (p.Phe439TyrfsTer6)
| |
| X | g.100407284G>A | CA517747862 | PCDH19 | c.1314C>T (p.Ser438=)
| COSMIC |
| X | g.100407284G>C | CA517747864 | PCDH19 | c.1314C>G (p.Ser438=)
| |
| X | g.100407284G>T | CA517747863 | PCDH19 | c.1314C>A (p.Ser438=)
| |
| X | g.100407285G>A | CA414003095 | PCDH19 | c.1313C>T (p.Ser438Phe)
| |
| X | g.100407285G>C | CA414003096 | PCDH19 | c.1313C>G (p.Ser438Cys)
| |
| X | g.100407285G= | CA2447976664 | PCDH19 | c.1313C= (p.Ser438=)
| |
| X | g.100407285G>T | CA10468899 | PCDH19 | c.1313C>A (p.Ser438Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407286A>C | CA414003105 | PCDH19 | c.1312T>G (p.Ser438Ala)
| |
| X | g.100407286A>G | CA414003097 | PCDH19 | c.1312T>C (p.Ser438Pro)
| |
| X | g.100407286A>T | CA414003098 | PCDH19 | c.1312T>A (p.Ser438Thr)
| |
| X | g.100407287C>A | CA414003108 | PCDH19 | c.1311G>T (p.Lys437Asn)
| |
| X | g.100407287C>G | CA414003109 | PCDH19 | c.1311G>C (p.Lys437Asn)
| |
| X | g.100407287C>T | CA517747866 | PCDH19 | c.1311G>A (p.Lys437=)
| |
| X | g.100407288T>A | CA414003112 | PCDH19 | c.1310A>T (p.Lys437Met)
| |
| X | g.100407288T>C | CA414003113 | PCDH19 | c.1310A>G (p.Lys437Arg)
| |
| X | g.100407288T>G | CA414003115 | PCDH19 | c.1310A>C (p.Lys437Thr)
| |
| X | g.100407289T>A | CA414003122 | PCDH19 | c.1309A>T (p.Lys437Ter)
| |
| X | g.100407289T>C | CA414003118 | PCDH19 | c.1309A>G (p.Lys437Glu)
| |
| X | g.100407289T>G | CA414003120 | PCDH19 | c.1309A>C (p.Lys437Gln)
| |
| X | g.100407289_100407290delinsTG | CA2447976665 | PCDH19 | c.1308_1309delinsCA (p.Ala436=)
| |
| X | g.100407290G>A | CA517747867 | PCDH19 | c.1308C>T (p.Ala436=)
| |
| X | g.100407290G>C | CA517747868 | PCDH19 | c.1308C>G (p.Ala436=)
| dbSNP |
| X | g.100407290G= | CA2447976666 | PCDH19 | c.1308C= (p.Ala436=)
| |
| X | g.100407290G>T | CA517747869 | PCDH19 | c.1308C>A (p.Ala436=)
| |
| X | g.100407291del | CA316404 | PCDH19 | c.1308del (p.Lys437SerfsTer?)
| ClinVar dbSNP |
| X | g.100407291G>A | CA414003127 | PCDH19 | c.1307C>T (p.Ala436Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407291G>C | CA414003128 | PCDH19 | c.1307C>G (p.Ala436Gly)
| |
| X | g.100407291G= | CA2447976667 | PCDH19 | c.1307C= (p.Ala436=)
| |
| X | g.100407291G>T | CA414003129 | PCDH19 | c.1307C>A (p.Ala436Asp)
| |
| X | g.100407292C>A | CA414003132 | PCDH19 | c.1306G>T (p.Ala436Ser)
| |
| X | g.100407292C= | CA2447976668 | PCDH19 | c.1306G= (p.Ala436=)
| |
| X | g.100407292C>G | CA414003134 | PCDH19 | c.1306G>C (p.Ala436Pro)
| |
| X | g.100407292C>T | CA414003136 | PCDH19 | c.1306G>A (p.Ala436Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407293A= | CA2447976669 | PCDH19 | c.1305T= (p.Ser435=)
| |
| X | g.100407293A>C | CA414003139 | PCDH19 | c.1305T>G (p.Ser435Arg)
| |
| X | g.100407293A>G | CA517747873 | PCDH19 | c.1305T>C (p.Ser435=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407293A>T | CA414003141 | PCDH19 | c.1305T>A (p.Ser435Arg)
| |
| X | g.100407293_100407294insG | CA2512437037 | PCDH19 | c.1304_1305insC (p.Ala436CysfsTer10)
| |
| X | g.100407294C>A | CA414003143 | PCDH19 | c.1304G>T (p.Ser435Ile)
| |
| X | g.100407294C= | CA2447976670 | PCDH19 | c.1304G= (p.Ser435=)
| |
| X | g.100407294C>G | CA414003144 | PCDH19 | c.1304G>C (p.Ser435Thr)
| |
| X | g.100407294C>T | CA414003146 | PCDH19 | c.1304G>A (p.Ser435Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407295T>A | CA414003147 | PCDH19 | c.1303A>T (p.Ser435Cys)
| |
| X | g.100407295T>C | CA414003151 | PCDH19 | c.1303A>G (p.Ser435Gly)
| |
| X | g.100407295T>G | CA414003148 | PCDH19 | c.1303A>C (p.Ser435Arg)
| |
| X | g.100407296del | CA2546032924 | PCDH19 | c.1302del (p.Ser435ValfsTer?)
| |
| X | g.100407296C>A | CA414003154 | PCDH19 | c.1302G>T (p.Gln434His)
| |
| X | g.100407296C= | CA2447976671 | PCDH19 | c.1302G= (p.Gln434=)
| |
| X | g.100407296C>G | CA414003156 | PCDH19 | c.1302G>C (p.Gln434His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407296C>T | CA517747874 | PCDH19 | c.1302G>A (p.Gln434=)
| |
| X | g.100407297T>A | CA414003159 | PCDH19 | c.1301A>T (p.Gln434Leu)
| |
| X | g.100407297T>C | CA414003161 | PCDH19 | c.1301A>G (p.Gln434Arg)
| |
| X | g.100407297T>G | CA414003167 | PCDH19 | c.1301A>C (p.Gln434Pro)
| |
| X | g.100407297_100407298del | CA913187338 | PCDH19 | c.1300_1301del (p.Gln434GlufsTer11)
| |
| X | g.100407298G>A | CA414003173 | PCDH19 | c.1300C>T (p.Gln434Ter)
| ClinVar dbSNP |
| X | g.100407298G>C | CA414003172 | PCDH19 | c.1300C>G (p.Gln434Glu)
| |
| X | g.100407298G= | CA2447976672 | PCDH19 | c.1300C= (p.Gln434=)
| |
| X | g.100407298G>T | CA414003170 | PCDH19 | c.1300C>A (p.Gln434Lys)
| |
| X | g.100407299C>A | CA517747878 | PCDH19 | c.1299G>T (p.Leu433=)
| |
| X | g.100407299C>G | CA517747879 | PCDH19 | c.1299G>C (p.Leu433=)
| |
| X | g.100407299C>T | CA517747880 | PCDH19 | c.1299G>A (p.Leu433=)
| |
| X | g.100407300A>C | CA414003183 | PCDH19 | c.1298T>G (p.Leu433Arg)
| |
| X | g.100407300A>G | CA414003185 | PCDH19 | c.1298T>C (p.Leu433Pro)
| |
| X | g.100407300A>T | CA414003187 | PCDH19 | c.1298T>A (p.Leu433Gln)
| |
| X | g.100407300dup | CA2514837737 | PCDH19 | c.1298dup (p.Gln434AlafsTer12)
| |
| X | g.100407301G>A | CA10468900 | PCDH19 | c.1297C>T (p.Leu433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407301G>C | CA414003188 | PCDH19 | c.1297C>G (p.Leu433Val)
| |
| X | g.100407301G= | CA2447976673 | PCDH19 | c.1297C= (p.Leu433=)
| |
| X | g.100407301G>T | CA414003190 | PCDH19 | c.1297C>A (p.Leu433Met)
| ClinVar dbSNP COSMIC |
| X | g.100407302C>A | CA414003198 | PCDH19 | c.1296G>T (p.Met432Ile)
| |
| X | g.100407302C>G | CA414003194 | PCDH19 | c.1296G>C (p.Met432Ile)
| |
| X | g.100407302C>T | CA414003196 | PCDH19 | c.1296G>A (p.Met432Ile)
| |
| X | g.100407303A>C | CA414003201 | PCDH19 | c.1295T>G (p.Met432Arg)
| |
| X | g.100407303A>G | CA414003202 | PCDH19 | c.1295T>C (p.Met432Thr)
| |
| X | g.100407303A>T | CA414003205 | PCDH19 | c.1295T>A (p.Met432Lys)
| |
| X | g.100407304del | CA2546525383 | PCDH19 | c.1294del (p.Met432CysfsTer?)
| |
| X | g.100407304T>A | CA414003208 | PCDH19 | c.1294A>T (p.Met432Leu)
| |
| X | g.100407304T>C | CA316242 | PCDH19 | c.1294A>G (p.Met432Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407304T>G | CA414003213 | PCDH19 | c.1294A>C (p.Met432Leu)
| |
| X | g.100407304T= | CA2447976674 | PCDH19 | c.1294A= (p.Met432=)
| |
| X | g.100407305G>A | CA517747887 | PCDH19 | c.1293C>T (p.Pro431=)
| |
| X | g.100407305G>C | CA517747889 | PCDH19 | c.1293C>G (p.Pro431=)
| |
| X | g.100407305G>T | CA517747888 | PCDH19 | c.1293C>A (p.Pro431=)
| |
| X | g.100407306G>A | CA414003222 | PCDH19 | c.1292C>T (p.Pro431Leu)
| COSMIC |
| X | g.100407306G>C | CA414003227 | PCDH19 | c.1292C>G (p.Pro431Arg)
| ClinVar dbSNP |
| X | g.100407306G= | CA2447976675 | PCDH19 | c.1292C= (p.Pro431=)
| |
| X | g.100407306G>T | CA414003228 | PCDH19 | c.1292C>A (p.Pro431His)
| gnomAD v4 |
| X | g.100407306_100407310delinsGGCAC | CA2447976676 | PCDH19 | c.1288_1292delinsGTGCC (p.Val430=)
| |
| X | g.100407307G>A | CA414003229 | PCDH19 | c.1291C>T (p.Pro431Ser)
| |
| X | g.100407307G>C | CA10468901 | PCDH19 | c.1291C>G (p.Pro431Ala)
| dbSNP ExAC gnomAD v2 |
| X | g.100407307G= | CA2447976677 | PCDH19 | c.1291C= (p.Pro431=)
| |
| X | g.100407307G>T | CA414003230 | PCDH19 | c.1291C>A (p.Pro431Thr)
| |
| X | g.100407309_100407312del | CA915951271 | PCDH19 | c.1288_1291del (p.Val430ProfsTer?)
| ClinVar dbSNP |
| X | g.100407308C>A | CA517747893 | PCDH19 | c.1290G>T (p.Val430=)
| |
| X | g.100407308C= | CA2447976678 | PCDH19 | c.1290G= (p.Val430=)
| |
| X | g.100407308C>G | CA517747894 | PCDH19 | c.1290G>C (p.Val430=)
| |
| X | g.100407308C>T | CA517747895 | PCDH19 | c.1290G>A (p.Val430=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407309A>C | CA414003232 | PCDH19 | c.1289T>G (p.Val430Gly)
| |
| X | g.100407309A>G | CA414003235 | PCDH19 | c.1289T>C (p.Val430Ala)
| |
| X | g.100407309A>T | CA414003234 | PCDH19 | c.1289T>A (p.Val430Glu)
| |
| X | g.100407310C>A | CA414003236 | PCDH19 | c.1288G>T (p.Val430Leu)
| |
| X | g.100407310C>G | CA414003237 | PCDH19 | c.1288G>C (p.Val430Leu)
| |
| X | g.100407310C>T | CA414003239 | PCDH19 | c.1288G>A (p.Val430Met)
| ClinVar COSMIC |
| X | g.100407311G>A | CA517747897 | PCDH19 | c.1287C>T (p.Gly429=)
| |
| X | g.100407311G>C | CA517747898 | PCDH19 | c.1287C>G (p.Gly429=)
| |
| X | g.100407311G>T | CA517747899 | PCDH19 | c.1287C>A (p.Gly429=)
| |
| X | g.100407312C>A | CA414003240 | PCDH19 | c.1286G>T (p.Gly429Val)
| |
| X | g.100407312C>G | CA414003241 | PCDH19 | c.1286G>C (p.Gly429Ala)
| |
| X | g.100407312C>T | CA414003246 | PCDH19 | c.1286G>A (p.Gly429Asp)
| |
| X | g.100407313C>A | CA414003248 | PCDH19 | c.1285G>T (p.Gly429Cys)
| |
| X | g.100407313C>G | CA414003252 | PCDH19 | c.1285G>C (p.Gly429Arg)
| |
| X | g.100407313C>T | CA414003254 | PCDH19 | c.1285G>A (p.Gly429Ser)
| COSMIC |
| X | g.100407314G>A | CA517747904 | PCDH19 | c.1284C>T (p.Gly428=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407314G>C | CA517747905 | PCDH19 | c.1284C>G (p.Gly428=)
| |
| X | g.100407314G= | CA2447976679 | PCDH19 | c.1284C= (p.Gly428=)
| |
| X | g.100407314G>T | CA517747906 | PCDH19 | c.1284C>A (p.Gly428=)
| ClinVar |
| X | g.100407315C>A | CA414003256 | PCDH19 | c.1283G>T (p.Gly428Val)
| |
| X | g.100407315C>G | CA414003257 | PCDH19 | c.1283G>C (p.Gly428Ala)
| |
| X | g.100407315C>T | CA414003258 | PCDH19 | c.1283G>A (p.Gly428Asp)
| gnomAD v4 |
| X | g.100407316C>A | CA414003263 | PCDH19 | c.1282G>T (p.Gly428Cys)
| |
| X | g.100407316C>G | CA414003260 | PCDH19 | c.1282G>C (p.Gly428Arg)
| |
| X | g.100407316C>T | CA414003262 | PCDH19 | c.1282G>A (p.Gly428Ser)
| |
| X | g.100407317G>A | CA517747908 | PCDH19 | c.1281C>T (p.Asp427=)
| gnomAD v4 |
| X | g.100407317G>C | CA414003264 | PCDH19 | c.1281C>G (p.Asp427Glu)
| ClinVar dbSNP |
| X | g.100407317G= | CA2447976680 | PCDH19 | c.1281C= (p.Asp427=)
| |
| X | g.100407317G>T | CA414003266 | PCDH19 | c.1281C>A (p.Asp427Glu)
| |
| X | g.100407318T>A | CA414003268 | PCDH19 | c.1280A>T (p.Asp427Val)
| |
| X | g.100407318T>C | CA414003269 | PCDH19 | c.1280A>G (p.Asp427Gly)
| |
| X | g.100407318T>G | CA414003270 | PCDH19 | c.1280A>C (p.Asp427Ala)
| |
| X | g.100407319C>A | CA414003274 | PCDH19 | c.1279G>T (p.Asp427Tyr)
| |
| X | g.100407319C>G | CA414003276 | PCDH19 | c.1279G>C (p.Asp427His)
| |
| X | g.100407319C>T | CA414003278 | PCDH19 | c.1279G>A (p.Asp427Asn)
| ClinVar |
| X | g.100407320G>A | CA517747912 | PCDH19 | c.1278C>T (p.Arg426=)
| COSMIC |
| X | g.100407320G>C | CA517747913 | PCDH19 | c.1278C>G (p.Arg426=)
| |
| X | g.100407320G>T | CA517747914 | PCDH19 | c.1278C>A (p.Arg426=)
| |
| X | g.100407321C>A | CA414003279 | PCDH19 | c.1277G>T (p.Arg426Leu)
| |
| X | g.100407321C>G | CA414003281 | PCDH19 | c.1277G>C (p.Arg426Pro)
| |
| X | g.100407321C>T | CA414003283 | PCDH19 | c.1277G>A (p.Arg426His)
| |
| X | g.100407322G>A | CA414003285 | PCDH19 | c.1276C>T (p.Arg426Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407322G>C | CA414003288 | PCDH19 | c.1276C>G (p.Arg426Gly)
| |
| X | g.100407322G= | CA2447976681 | PCDH19 | c.1276C= (p.Arg426=)
| |
| X | g.100407322G>T | CA414003286 | PCDH19 | c.1276C>A (p.Arg426Ser)
| |
| X | g.100407323T>A | CA517747915 | PCDH19 | c.1275A>T (p.Ala425=)
| |
| X | g.100407323T>C | CA517747916 | PCDH19 | c.1275A>G (p.Ala425=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407323T>G | CA517747917 | PCDH19 | c.1275A>C (p.Ala425=)
| |
| X | g.100407323T= | CA2447976682 | PCDH19 | c.1275A= (p.Ala425=)
| |
| X | g.100407324G>A | CA414003290 | PCDH19 | c.1274C>T (p.Ala425Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407324G>C | CA414003295 | PCDH19 | c.1274C>G (p.Ala425Gly)
| |
| X | g.100407324G= | CA2447976683 | PCDH19 | c.1274C= (p.Ala425=)
| |
| X | g.100407324G>T | CA414003293 | PCDH19 | c.1274C>A (p.Ala425Glu)
| |
| X | g.100407324dup | CA2554132421 | PCDH19 | c.1274dup (p.Arg426ThrfsTer20)
| |
| X | g.100407325C>A | CA414003297 | PCDH19 | c.1273G>T (p.Ala425Ser)
| |
| X | g.100407325C= | CA2447976684 | PCDH19 | c.1273G= (p.Ala425=)
| |
| X | g.100407325C>G | CA414003301 | PCDH19 | c.1273G>C (p.Ala425Pro)
| |
| X | g.100407325C>T | CA414003299 | PCDH19 | c.1273G>A (p.Ala425Thr)
| dbSNP |
| X | g.100407326C>A | CA414003303 | PCDH19 | c.1272G>T (p.Gln424His)
| |
| X | g.100407326C= | CA2447976685 | PCDH19 | c.1272G= (p.Gln424=)
| |
| X | g.100407326C>G | CA414003305 | PCDH19 | c.1272G>C (p.Gln424His)
| |
| X | g.100407326C>T | CA517747918 | PCDH19 | c.1272G>A (p.Gln424=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407327T>A | CA414003307 | PCDH19 | c.1271A>T (p.Gln424Leu)
| |
| X | g.100407327T>C | CA414003309 | PCDH19 | c.1271A>G (p.Gln424Arg)
| |
| X | g.100407327T>G | CA414003312 | PCDH19 | c.1271A>C (p.Gln424Pro)
| |
| X | g.100407328G>A | CA414003315 | PCDH19 | c.1270C>T (p.Gln424Ter)
| |
| X | g.100407328G>C | CA414003316 | PCDH19 | c.1270C>G (p.Gln424Glu)
| |
| X | g.100407328G>T | CA414003317 | PCDH19 | c.1270C>A (p.Gln424Lys)
| |
| X | g.100407329A>C | CA414003318 | PCDH19 | c.1269T>G (p.Ile423Met)
| |
| X | g.100407329A>G | CA517747919 | PCDH19 | c.1269T>C (p.Ile423=)
| |
| X | g.100407329A>T | CA517747920 | PCDH19 | c.1269T>A (p.Ile423=)
| |
| X | g.100407330A>C | CA414003326 | PCDH19 | c.1268T>G (p.Ile423Ser)
| |
| X | g.100407330A>G | CA414003321 | PCDH19 | c.1268T>C (p.Ile423Thr)
| |
| X | g.100407330A>T | CA414003323 | PCDH19 | c.1268T>A (p.Ile423Asn)
| |
| X | g.100407334_100407346del | CA2697553220 | PCDH19 | c.1256_1268del (p.Tyr419PhefsTer?)
| ClinVar |
| X | g.100407331T>A | CA414003328 | PCDH19 | c.1267A>T (p.Ile423Phe)
| |
| X | g.100407331T>C | CA414003331 | PCDH19 | c.1267A>G (p.Ile423Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407331T>G | CA414003333 | PCDH19 | c.1267A>C (p.Ile423Leu)
| |
| X | g.100407331T= | CA2447976687 | PCDH19 | c.1267A= (p.Ile423=)
| |
| X | g.100407331_100407333delinsTTG | CA2447976686 | PCDH19 | c.1265_1267delinsCAA (p.Thr422=)
| |
| X | g.100407332T>A | CA10468902 | PCDH19 | c.1266A>T (p.Thr422=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407332T>C | CA517747922 | PCDH19 | c.1266A>G (p.Thr422=)
| |
| X | g.100407332T>G | CA517747921 | PCDH19 | c.1266A>C (p.Thr422=)
| |
| X | g.100407332T= | CA2447976688 | PCDH19 | c.1266A= (p.Thr422=)
| |
| X | g.100407334_100407335del | CA10605674 | PCDH19 | c.1265_1266del (p.Thr422AsnfsTer23)
| ClinVar dbSNP |
| X | g.100407333G>A | CA10468903 | PCDH19 | c.1265C>T (p.Thr422Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407333G>C | CA414003342 | PCDH19 | c.1265C>G (p.Thr422Arg)
| |
| X | g.100407333G= | CA2447976689 | PCDH19 | c.1265C= (p.Thr422=)
| |
| X | g.100407333G>T | CA414003341 | PCDH19 | c.1265C>A (p.Thr422Lys)
| |
| X | g.100407334T>A | CA414003344 | PCDH19 | c.1264A>T (p.Thr422Ser)
| |
| X | g.100407334T>C | CA414003346 | PCDH19 | c.1264A>G (p.Thr422Ala)
| gnomAD v4 |
| X | g.100407334T>G | CA414003347 | PCDH19 | c.1264A>C (p.Thr422Pro)
| gnomAD v4 |
| X | g.100407335G>A | CA517747923 | PCDH19 | c.1263C>T (p.Leu421=)
| ClinVar |
| X | g.100407335G>C | CA517747924 | PCDH19 | c.1263C>G (p.Leu421=)
| |
| X | g.100407335G>T | CA517747925 | PCDH19 | c.1263C>A (p.Leu421=)
| |
| X | g.100407336A>C | CA414003350 | PCDH19 | c.1262T>G (p.Leu421Arg)
| |
| X | g.100407336A>G | CA414003351 | PCDH19 | c.1262T>C (p.Leu421Pro)
| |
| X | g.100407336A>T | CA414003354 | PCDH19 | c.1262T>A (p.Leu421His)
| |
| X | g.100407337G>A | CA414003357 | PCDH19 | c.1261C>T (p.Leu421Phe)
| |
| X | g.100407337G>C | CA414003359 | PCDH19 | c.1261C>G (p.Leu421Val)
| |
| X | g.100407337G>T | CA414003362 | PCDH19 | c.1261C>A (p.Leu421Ile)
| |
| X | g.100407338G>A | CA517747926 | PCDH19 | c.1260C>T (p.Asn420=)
| |
| X | g.100407338G>C | CA414003365 | PCDH19 | c.1260C>G (p.Asn420Lys)
| |
| X | g.100407338G>T | CA414003367 | PCDH19 | c.1260C>A (p.Asn420Lys)
| |
| X | g.100407339T>A | CA414003371 | PCDH19 | c.1259A>T (p.Asn420Ile)
| |
| X | g.100407339T>C | CA414003375 | PCDH19 | c.1259A>G (p.Asn420Ser)
| |
| X | g.100407339T>G | CA10468904 | PCDH19 | c.1259A>C (p.Asn420Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407339T= | CA2447976690 | PCDH19 | c.1259A= (p.Asn420=)
| |
| X | g.100407340T>A | CA414003378 | PCDH19 | c.1258A>T (p.Asn420Tyr)
| |
| X | g.100407340T>C | CA414003380 | PCDH19 | c.1258A>G (p.Asn420Asp)
| |
| X | g.100407340T>G | CA414003382 | PCDH19 | c.1258A>C (p.Asn420His)
| |
| X | g.100407341G>A | CA517747927 | PCDH19 | c.1257C>T (p.Tyr419=)
| |
| X | g.100407341G>C | CA414003385 | PCDH19 | c.1257C>G (p.Tyr419Ter)
| |
| X | g.100407341G>T | CA414003387 | PCDH19 | c.1257C>A (p.Tyr419Ter)
| |
| X | g.100407342T>A | CA414003391 | PCDH19 | c.1256A>T (p.Tyr419Phe)
| |
| X | g.100407342T>C | CA414003392 | PCDH19 | c.1256A>G (p.Tyr419Cys)
| |
| X | g.100407342T>G | CA414003395 | PCDH19 | c.1256A>C (p.Tyr419Ser)
| |
| X | g.100407343A>C | CA414003398 | PCDH19 | c.1255T>G (p.Tyr419Asp)
| |
| X | g.100407343A>G | CA414003400 | PCDH19 | c.1255T>C (p.Tyr419His)
| |
| X | g.100407343A>T | CA414003403 | PCDH19 | c.1255T>A (p.Tyr419Asn)
| |
| X | g.100407344T>A | CA414003406 | PCDH19 | c.1254A>T (p.Gln418His)
| |
| X | g.100407344T>C | CA517747928 | PCDH19 | c.1254A>G (p.Gln418=)
| gnomAD v4 |
| X | g.100407344T>G | CA414003409 | PCDH19 | c.1254A>C (p.Gln418His)
| |
| X | g.100407345T>A | CA414003413 | PCDH19 | c.1253A>T (p.Gln418Leu)
| |
| X | g.100407345T>C | CA414003416 | PCDH19 | c.1253A>G (p.Gln418Arg)
| |
| X | g.100407345T>G | CA414003414 | PCDH19 | c.1253A>C (p.Gln418Pro)
| |
| X | g.100407346G>A | CA414003419 | PCDH19 | c.1252C>T (p.Gln418Ter)
| ClinVar |
| X | g.100407346G>C | CA414003422 | PCDH19 | c.1252C>G (p.Gln418Glu)
| ClinVar gnomAD v4 |
| X | g.100407346G>T | CA414003424 | PCDH19 | c.1252C>A (p.Gln418Lys)
| ClinVar |
| X | g.100407347del | CA915940195 | PCDH19 | c.1252del (p.Gln418AsnfsTer?)
| |
| X | g.100407347G>A | CA517747929 | PCDH19 | c.1251C>T (p.Asp417=)
| |
| X | g.100407347G>C | CA414003427 | PCDH19 | c.1251C>G (p.Asp417Glu)
| |
| X | g.100407347G>T | CA414003428 | PCDH19 | c.1251C>A (p.Asp417Glu)
| |
| X | g.100407348T>A | CA414003432 | PCDH19 | c.1250A>T (p.Asp417Val)
| ClinVar dbSNP |
| X | g.100407348T>C | CA414003434 | PCDH19 | c.1250A>G (p.Asp417Gly)
| |
| X | g.100407348T>G | CA414003438 | PCDH19 | c.1250A>C (p.Asp417Ala)
| |
| X | g.100407349C>A | CA414003441 | PCDH19 | c.1249G>T (p.Asp417Tyr)
| ClinVar |
| X | g.100407349C>G | CA414003444 | PCDH19 | c.1249G>C (p.Asp417His)
| |
| X | g.100407349C>T | CA414003445 | PCDH19 | c.1249G>A (p.Asp417Asn)
| |
| X | g.100407350G>A | CA517747930 | PCDH19 | c.1248C>T (p.His416=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407350G>C | CA414003448 | PCDH19 | c.1248C>G (p.His416Gln)
| |
| X | g.100407350G= | CA2447976691 | PCDH19 | c.1248C= (p.His416=)
| |
| X | g.100407350G>T | CA414003450 | PCDH19 | c.1248C>A (p.His416Gln)
| |
| X | g.100407350_100407352del | CA2527861517 | PCDH19 | c.1246_1248del (p.His416del)
| |
| X | g.100407351T>A | CA414003454 | PCDH19 | c.1247A>T (p.His416Leu)
| |
| X | g.100407351T>C | CA414003458 | PCDH19 | c.1247A>G (p.His416Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407351T>G | CA414003455 | PCDH19 | c.1247A>C (p.His416Pro)
| |
| X | g.100407351T= | CA2447976692 | PCDH19 | c.1247A= (p.His416=)
| |
| X | g.100407352G>A | CA414003462 | PCDH19 | c.1246C>T (p.His416Tyr)
| |
| X | g.100407352G>C | CA414003464 | PCDH19 | c.1246C>G (p.His416Asp)
| |
| X | g.100407352G= | CA2447976693 | PCDH19 | c.1246C= (p.His416=)
| |
| X | g.100407352G>T | CA10468905 | PCDH19 | c.1246C>A (p.His416Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407353C>A | CA414003470 | PCDH19 | c.1245G>T (p.Gln415His)
| |
| X | g.100407353C>G | CA414003472 | PCDH19 | c.1245G>C (p.Gln415His)
| |
| X | g.100407353C>T | CA517747931 | PCDH19 | c.1245G>A (p.Gln415=)
| |
| X | g.100407353_100407354insCTT | CA2522849274 | PCDH19 | c.1244_1245insAAG (p.Gln415_His416insArg)
| |
| X | g.100407354T>A | CA414003476 | PCDH19 | c.1244A>T (p.Gln415Leu)
| |
| X | g.100407354T>C | CA414003479 | PCDH19 | c.1244A>G (p.Gln415Arg)
| gnomAD v4 |
| X | g.100407354T>G | CA414003481 | PCDH19 | c.1244A>C (p.Gln415Pro)
| |
