| 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)
| |
| X | g.100407355G>A | CA414003484 | PCDH19 | c.1243C>T (p.Gln415Ter)
| |
| X | g.100407355G>C | CA414003486 | PCDH19 | c.1243C>G (p.Gln415Glu)
| |
| X | g.100407355G>T | CA414003488 | PCDH19 | c.1243C>A (p.Gln415Lys)
| |
| X | g.100407356C>A | CA414003493 | PCDH19 | c.1242G>T (p.Glu414Asp)
| |
| X | g.100407356C>G | CA414003491 | PCDH19 | c.1242G>C (p.Glu414Asp)
| |
| X | g.100407356C>T | CA517747932 | PCDH19 | c.1242G>A (p.Glu414=)
| |
| X | g.100407356_100407357insAGAG | CA2822656797 | PCDH19 | c.1241_1242insCTCT (p.Glu414AspfsTer?)
| |
| X | g.100407357T>A | CA316345 | PCDH19 | c.1241A>T (p.Glu414Val)
| ClinVar dbSNP |
| X | g.100407357T>C | CA414003498 | PCDH19 | c.1241A>G (p.Glu414Gly)
| |
| X | g.100407357T>G | CA414003501 | PCDH19 | c.1241A>C (p.Glu414Ala)
| |
| X | g.100407357T= | CA2447976694 | PCDH19 | c.1241A= (p.Glu414=)
| |
| X | g.100407357_100407358insGCCAAGTCCTTTAC | CA2822656798 | PCDH19 | c.1240_1241insGTAAAGGACTTGGC (p.Glu414GlyfsTer?)
| |
| 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)
| |
