| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100399186_100406943del | CA891843591 | PCDH19 | c.1657_2475+3340del c.1657_2616+3340del | ClinVar |
| X | g.100406541_100407019delinsGCAGAGA | CA2580100061 | PCDH19 | c.1579_2057delinsTCTCTGC (p.Lys527SerfsTer11) | ClinVar |
| X | g.100406894C>A | CA517747548 | PCDH19 | c.1704G>T (p.Leu568=) | |
| X | g.100406894C>G | CA517747549 | PCDH19 | c.1704G>C (p.Leu568=) | |
| X | g.100406894C>T | CA517747550 | PCDH19 | c.1704G>A (p.Leu568=) | |
| X | g.100406895A>C | CA414002154 | PCDH19 | c.1703T>G (p.Leu568Arg) | |
| X | g.100406895A>G | CA414002155 | PCDH19 | c.1703T>C (p.Leu568Pro) | |
| X | g.100406895A>T | CA414002156 | PCDH19 | c.1703T>A (p.Leu568Gln) | |
| X | g.100406895_100406896insTTAAAA | CA2549662020 | PCDH19 | c.1703_1704insTTTAAT (p.Leu568_Ile569insLeuMet) | |
| X | g.100406896G>A | CA517747555 | PCDH19 | c.1702C>T (p.Leu568=) | ClinVar gnomAD v4 |
| X | g.100406896G>C | CA414002157 | PCDH19 | c.1702C>G (p.Leu568Val) | |
| X | g.100406896G>T | CA414002158 | PCDH19 | c.1702C>A (p.Leu568Met) | |
| X | g.100406896_100406899del | CA2554550691 | PCDH19 | c.1699_1702del (p.Pro567Ter) | |
| X | g.100406897A>C | CA517747556 | PCDH19 | c.1701T>G (p.Pro567=) | |
| X | g.100406897A>G | CA517747558 | PCDH19 | c.1701T>C (p.Pro567=) | |
| X | g.100406897A>T | CA517747557 | PCDH19 | c.1701T>A (p.Pro567=) | |
| X | g.100406898G>A | CA414002159 | PCDH19 | c.1700C>T (p.Pro567Leu) | ClinVar dbSNP |
| X | g.100406898G>C | CA10468852 | PCDH19 | c.1700C>G (p.Pro567Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406898G= | CA2447976505 | PCDH19 | c.1700C= (p.Pro567=) | |
| X | g.100406898G>T | CA333826065 | PCDH19 | c.1700C>A (p.Pro567His) | dbSNP |
| X | g.100406900_100406904del | CA2528687005 | PCDH19 | c.1696_1700del (p.Pro566SerfsTer3) | |
| X | g.100406899G>A | CA414002160 | PCDH19 | c.1699C>T (p.Pro567Ser) | |
| X | g.100406899G>C | CA414002161 | PCDH19 | c.1699C>G (p.Pro567Ala) | |
| X | g.100406899G= | CA2447976506 | PCDH19 | c.1699C= (p.Pro567=) | |
| X | g.100406899G>T | CA414002162 | PCDH19 | c.1699C>A (p.Pro567Thr) | dbSNP |
| X | g.100406900T>A | CA517747562 | PCDH19 | c.1698A>T (p.Pro566=) | |
| X | g.100406900T>C | CA517747563 | PCDH19 | c.1698A>G (p.Pro566=) | |
| X | g.100406900T>G | CA517747565 | PCDH19 | c.1698A>C (p.Pro566=) | |
| X | g.100406901G>A | CA414002163 | PCDH19 | c.1697C>T (p.Pro566Leu) | |
| X | g.100406901G>C | CA414002164 | PCDH19 | c.1697C>G (p.Pro566Arg) | |
| X | g.100406901G= | CA2447976507 | PCDH19 | c.1697C= (p.Pro566=) | |
| X | g.100406901G>T | CA414002165 | PCDH19 | c.1697C>A (p.Pro566Gln) | ClinVar dbSNP |
| X | g.100406901_100406915delinsGGGGCTGTGATGACC | CA2447976508 | PCDH19 | c.1683_1697delinsGGTCATCACAGCCCC (p.Pro561=) | |
| X | g.100406901_100406902insAAAAA | CA2508946022 | PCDH19 | c.1696_1697insTTTTT (p.Pro566LeufsTer5) | |
| X | g.100406902G>A | CA414002166 | PCDH19 | c.1696C>T (p.Pro566Ser) | ClinVar dbSNP COSMIC COSMIC |
| X | g.100406902G>C | CA414002167 | PCDH19 | c.1696C>G (p.Pro566Ala) | ClinVar dbSNP |
| X | g.100406902G= | CA2447976509 | PCDH19 | c.1696C= (p.Pro566=) | |
| X | g.100406902G>T | CA414002168 | PCDH19 | c.1696C>A (p.Pro566Thr) | |
| X | g.100406905_100406918del | CA316405 | PCDH19 | c.1683_1696del (p.Val562ThrfsTer4) | ClinVar dbSNP |
| X | g.100406903G>A | CA517747572 | PCDH19 | c.1695C>T (p.Ala565=) | |
| X | g.100406903G>C | CA517747574 | PCDH19 | c.1695C>G (p.Ala565=) | |
| X | g.100406903G>T | CA517747575 | PCDH19 | c.1695C>A (p.Ala565=) | |
| X | g.100406904G>A | CA414002170 | PCDH19 | c.1694C>T (p.Ala565Val) | |
| X | g.100406904G>C | CA414002171 | PCDH19 | c.1694C>G (p.Ala565Gly) | |
| X | g.100406904G>T | CA414002169 | PCDH19 | c.1694C>A (p.Ala565Asp) | |
| X | g.100406905C>A | CA414002172 | PCDH19 | c.1693G>T (p.Ala565Ser) | |
| X | g.100406905C= | CA2447976510 | PCDH19 | c.1693G= (p.Ala565=) | |
| X | g.100406905C>G | CA414002173 | PCDH19 | c.1693G>C (p.Ala565Pro) | ClinVar dbSNP |
| X | g.100406905C>T | CA414002174 | PCDH19 | c.1693G>A (p.Ala565Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406906T>A | CA517747582 | PCDH19 | c.1692A>T (p.Thr564=) | |
| X | g.100406906T>C | CA517747581 | PCDH19 | c.1692A>G (p.Thr564=) | |
| X | g.100406906T>G | CA517747580 | PCDH19 | c.1692A>C (p.Thr564=) | |
| X | g.100406907G>A | CA414002175 | PCDH19 | c.1691C>T (p.Thr564Ile) | dbSNP gnomAD v2 |
| X | g.100406907G>C | CA414002176 | PCDH19 | c.1691C>G (p.Thr564Arg) | |
| X | g.100406907G= | CA2447976511 | PCDH19 | c.1691C= (p.Thr564=) | |
| X | g.100406907G>T | CA414002177 | PCDH19 | c.1691C>A (p.Thr564Lys) | |
| X | g.100406908T>A | CA414002178 | PCDH19 | c.1690A>T (p.Thr564Ser) | |
| X | g.100406908T>C | CA414002180 | PCDH19 | c.1690A>G (p.Thr564Ala) | |
| X | g.100406908T>G | CA414002179 | PCDH19 | c.1690A>C (p.Thr564Pro) | |
| X | g.100406909G>A | CA517747588 | PCDH19 | c.1689C>T (p.Ile563=) | COSMIC COSMIC |
| X | g.100406909G>C | CA414002181 | PCDH19 | c.1689C>G (p.Ile563Met) | |
| X | g.100406909G>T | CA517747589 | PCDH19 | c.1689C>A (p.Ile563=) | |
| X | g.100406910A>C | CA414002182 | PCDH19 | c.1688T>G (p.Ile563Ser) | |
| X | g.100406910A>G | CA414002183 | PCDH19 | c.1688T>C (p.Ile563Thr) | |
| X | g.100406910A>T | CA414002184 | PCDH19 | c.1688T>A (p.Ile563Asn) | |
| X | g.100406911T>A | CA414002187 | PCDH19 | c.1687A>T (p.Ile563Phe) | |
| X | g.100406911T>C | CA414002185 | PCDH19 | c.1687A>G (p.Ile563Val) | |
| X | g.100406911T>G | CA414002186 | PCDH19 | c.1687A>C (p.Ile563Leu) | |
| X | g.100406912G>A | CA517747594 | PCDH19 | c.1686C>T (p.Val562=) | |
| X | g.100406912G>C | CA517747595 | PCDH19 | c.1686C>G (p.Val562=) | |
| X | g.100406912G>T | CA517747596 | PCDH19 | c.1686C>A (p.Val562=) | |
| X | g.100406913A>C | CA414002188 | PCDH19 | c.1685T>G (p.Val562Gly) | |
| X | g.100406913A>G | CA414002190 | PCDH19 | c.1685T>C (p.Val562Ala) | |
| X | g.100406913A>T | CA414002189 | PCDH19 | c.1685T>A (p.Val562Asp) | |
| X | g.100406914C>A | CA414002191 | PCDH19 | c.1684G>T (p.Val562Phe) | |
| X | g.100406914C= | CA2447976512 | PCDH19 | c.1684G= (p.Val562=) | |
| X | g.100406914C>G | CA414002192 | PCDH19 | c.1684G>C (p.Val562Leu) | |
| X | g.100406914C>T | CA10468853 | PCDH19 | c.1684G>A (p.Val562Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406915C>A | CA517747600 | PCDH19 | c.1683G>T (p.Pro561=) | |
| X | g.100406915C= | CA2447976513 | PCDH19 | c.1683G= (p.Pro561=) | |
| X | g.100406915C>G | CA517747602 | PCDH19 | c.1683G>C (p.Pro561=) | |
| X | g.100406915C>T | CA147195 | PCDH19 | c.1683G>A (p.Pro561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406915_100406916delinsCG | CA2447976514 | PCDH19 | c.1682_1683delinsCG (p.Pro561=) | |
| X | g.100406916G>A | CA414002193 | PCDH19 | c.1682C>T (p.Pro561Leu) | ClinVar dbSNP |
| X | g.100406916G>C | CA316366 | PCDH19 | c.1682C>G (p.Pro561Arg) | ClinVar dbSNP |
| X | g.100406916G= | CA2447976515 | PCDH19 | c.1682C= (p.Pro561=) | |
| X | g.100406916G>T | CA414002194 | PCDH19 | c.1682C>A (p.Pro561Gln) | |
| X | g.100406919del | CA915951268 | PCDH19 | c.1682del (p.Pro561ArgfsTer8) | ClinVar dbSNP |
| X | g.100406916_100406922delinsCGCACC | CA2695235307 | PCDH19 | c.1676_1682delinsGGTGCG (p.Asn559ArgfsTer10) | |
| X | g.100406917G>A | CA414002195 | PCDH19 | c.1681C>T (p.Pro561Ser) | ClinVar dbSNP |
| X | g.100406917G>C | CA414002196 | PCDH19 | c.1681C>G (p.Pro561Ala) | ClinVar dbSNP |
| X | g.100406917G= | CA2447976516 | PCDH19 | c.1681C= (p.Pro561=) | |
| X | g.100406917G>T | CA414002197 | PCDH19 | c.1681C>A (p.Pro561Thr) | |
| X | g.100406918G>A | CA517747607 | PCDH19 | c.1680C>T (p.Thr560=) | gnomAD v4 |
| X | g.100406918G>C | CA517747609 | PCDH19 | c.1680C>G (p.Thr560=) | gnomAD v4 |
| X | g.100406918G>T | CA517747611 | PCDH19 | c.1680C>A (p.Thr560=) | |
| X | g.100406919G>A | CA414002198 | PCDH19 | c.1679C>T (p.Thr560Ile) | COSMIC COSMIC |
| X | g.100406919G>C | CA414002199 | PCDH19 | c.1679C>G (p.Thr560Ser) | |
| X | g.100406919G>T | CA414002200 | PCDH19 | c.1679C>A (p.Thr560Asn) | |
| X | g.100406921_100406922del | CA913184428 | PCDH19 | c.1678_1679del (p.Thr560ProfsTer10) | |
| X | g.100406920T>A | CA414002201 | PCDH19 | c.1678A>T (p.Thr560Ser) | dbSNP |
| X | g.100406920T>C | CA414002203 | PCDH19 | c.1678A>G (p.Thr560Ala) | |
| X | g.100406920T>G | CA414002202 | PCDH19 | c.1678A>C (p.Thr560Pro) | dbSNP |
| X | g.100406920T= | CA2447976517 | PCDH19 | c.1678A= (p.Thr560=) | |
| X | g.100406921G>A | CA517747613 | PCDH19 | c.1677C>T (p.Asn559=) | |
| X | g.100406921G>C | CA414002204 | PCDH19 | c.1677C>G (p.Asn559Lys) | |
| X | g.100406921G>T | CA414002205 | PCDH19 | c.1677C>A (p.Asn559Lys) | |
| X | g.100406921_100406922delinsGT | CA2447976518 | PCDH19 | c.1676_1677delinsAC (p.Asn559=) | |
| X | g.100406922T>A | CA414002206 | PCDH19 | c.1676A>T (p.Asn559Ile) | |
| X | g.100406922T>C | CA414002207 | PCDH19 | c.1676A>G (p.Asn559Ser) | |
| X | g.100406922T>G | CA414002208 | PCDH19 | c.1676A>C (p.Asn559Thr) | |
| X | g.100406923del | CA658824637 | PCDH19 | c.1676del (p.Asn559ThrfsTer10) | ClinVar dbSNP |
| X | g.100406923T>A | CA414002209 | PCDH19 | c.1675A>T (p.Asn559Tyr) | |
| X | g.100406923T>C | CA414002210 | PCDH19 | c.1675A>G (p.Asn559Asp) | ClinVar dbSNP |
| X | g.100406923T>G | CA414002211 | PCDH19 | c.1675A>C (p.Asn559His) | |
| X | g.100406924G>A | CA517747616 | PCDH19 | c.1674C>T (p.Asp558=) | gnomAD v4 |
| X | g.100406924G>C | CA414002212 | PCDH19 | c.1674C>G (p.Asp558Glu) | |
| X | g.100406924G>T | CA414002213 | PCDH19 | c.1674C>A (p.Asp558Glu) | |
| X | g.100406926_100406928del | CA2694245852 | PCDH19 | c.1672_1674del (p.Asp558del) | gnomAD v4 |
| X | g.100406925T>A | CA414002216 | PCDH19 | c.1673A>T (p.Asp558Val) | gnomAD v4 |
| X | g.100406925T>C | CA414002215 | PCDH19 | c.1673A>G (p.Asp558Gly) | COSMIC COSMIC |
| X | g.100406925T>G | CA414002214 | PCDH19 | c.1673A>C (p.Asp558Ala) | |
| X | g.100406926C>A | CA414002217 | PCDH19 | c.1672G>T (p.Asp558Tyr) | |
| X | g.100406926C= | CA2447976519 | PCDH19 | c.1672G= (p.Asp558=) | |
| X | g.100406926C>G | CA333826066 | PCDH19 | c.1672G>C (p.Asp558His) | ClinVar dbSNP gnomAD v4 |
| X | g.100406926C>T | CA10468854 | PCDH19 | c.1672G>A (p.Asp558Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406927del | CA2499226252 | PCDH19 | c.1671del (p.Asn557LysfsTer12) | ClinVar dbSNP |
| X | g.100406927G>A | CA517747623 | PCDH19 | c.1671C>T (p.Asn557=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100406927G>C | CA121303 | PCDH19 | c.1671C>G (p.Asn557Lys) | ClinVar dbSNP |
| X | g.100406927G= | CA2447976520 | PCDH19 | c.1671C= (p.Asn557=) | |
| X | g.100406927G>T | CA414002219 | PCDH19 | c.1671C>A (p.Asn557Lys) | ClinVar |
| X | g.100406928T>A | CA414002220 | PCDH19 | c.1670A>T (p.Asn557Ile) | |
| X | g.100406928T>C | CA414002221 | PCDH19 | c.1670A>G (p.Asn557Ser) | ClinVar dbSNP |
| X | g.100406928T>G | CA414002222 | PCDH19 | c.1670A>C (p.Asn557Thr) | |
| X | g.100406928T= | CA2447976521 | PCDH19 | c.1670A= (p.Asn557=) | |
| X | g.100406929T>A | CA414002223 | PCDH19 | c.1669A>T (p.Asn557Tyr) | |
| X | g.100406929T>C | CA414002224 | PCDH19 | c.1669A>G (p.Asn557Asp) | |
| X | g.100406929T>G | CA414002225 | PCDH19 | c.1669A>C (p.Asn557His) | |
| X | g.100406930G>A | CA517747628 | PCDH19 | c.1668C>T (p.Val556=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406930G>C | CA517747630 | PCDH19 | c.1668C>G (p.Val556=) | |
| X | g.100406930G= | CA2447976522 | PCDH19 | c.1668C= (p.Val556=) | |
| X | g.100406930G>T | CA517747631 | PCDH19 | c.1668C>A (p.Val556=) | gnomAD v4 |
| X | g.100406931A>C | CA414002226 | PCDH19 | c.1667T>G (p.Val556Gly) | |
| X | g.100406931A>G | CA414002227 | PCDH19 | c.1667T>C (p.Val556Ala) | |
| X | g.100406931A>T | CA414002228 | PCDH19 | c.1667T>A (p.Val556Asp) | |
| X | g.100406932C>A | CA414002231 | PCDH19 | c.1666G>T (p.Val556Phe) | |
| X | g.100406932C>G | CA414002229 | PCDH19 | c.1666G>C (p.Val556Leu) | |
| X | g.100406932C>T | CA414002230 | PCDH19 | c.1666G>A (p.Val556Ile) | |
| X | g.100406933G>A | CA517747635 | PCDH19 | c.1665C>T (p.Asp555=) | gnomAD v4 |
| X | g.100406933G>C | CA414002232 | PCDH19 | c.1665C>G (p.Asp555Glu) | |
| X | g.100406933G>T | CA414002233 | PCDH19 | c.1665C>A (p.Asp555Glu) | |
| X | g.100406934T>A | CA414002234 | PCDH19 | c.1664A>T (p.Asp555Val) | |
| X | g.100406934T>C | CA414002235 | PCDH19 | c.1664A>G (p.Asp555Gly) | |
| X | g.100406934T>G | CA414002236 | PCDH19 | c.1664A>C (p.Asp555Ala) | |
| X | g.100406935del | CA2695235308 | PCDH19 | c.1663del (p.Asp555ThrfsTer14) | |
| X | g.100406935C>A | CA414002237 | PCDH19 | c.1663G>T (p.Asp555Tyr) | |
| X | g.100406935C>G | CA414002238 | PCDH19 | c.1663G>C (p.Asp555His) | |
| X | g.100406935C>T | CA414002239 | PCDH19 | c.1663G>A (p.Asp555Asn) | gnomAD v4 COSMIC COSMIC |
| X | g.100406936G>A | CA10468855 | PCDH19 | c.1662C>T (p.Leu554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.100406936G>C | CA517747639 | PCDH19 | c.1662C>G (p.Leu554=) | ClinVar |
| X | g.100406936G= | CA2447976523 | PCDH19 | c.1662C= (p.Leu554=) | |
| X | g.100406936G>T | CA517747640 | PCDH19 | c.1662C>A (p.Leu554=) | |
| X | g.100406937A>C | CA414002240 | PCDH19 | c.1661T>G (p.Leu554Arg) | |
| X | g.100406937A>G | CA414002241 | PCDH19 | c.1661T>C (p.Leu554Pro) | |
| X | g.100406937A>T | CA414002242 | PCDH19 | c.1661T>A (p.Leu554His) | |
| X | g.100406938G>A | CA10468856 | PCDH19 | c.1660C>T (p.Leu554Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406938G>C | CA414002245 | PCDH19 | c.1660C>G (p.Leu554Val) | |
| X | g.100406938G= | CA2447976524 | PCDH19 | c.1660C= (p.Leu554=) | |
| X | g.100406938G>T | CA414002243 | PCDH19 | c.1660C>A (p.Leu554Ile) | |
| X | g.100406938_100406941delinsGGAT | CA2447976525 | PCDH19 | c.1657_1660delinsATCC (p.Ile553=) | |
| X | g.100406939G>A | CA517747645 | PCDH19 | c.1659C>T (p.Ile553=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.100406939G>C | CA414002246 | PCDH19 | c.1659C>G (p.Ile553Met) | |
| X | g.100406939G= | CA2447976526 | PCDH19 | c.1659C= (p.Ile553=) | |
| X | g.100406939G>T | CA517747646 | PCDH19 | c.1659C>A (p.Ile553=) | |
| X | g.100406944_100406946del | CA1135787581 | PCDH19 | c.1657_1659del (p.Ile553del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406940A>C | CA414002248 | PCDH19 | c.1658T>G (p.Ile553Ser) | |
| X | g.100406940A>G | CA414002247 | PCDH19 | c.1658T>C (p.Ile553Thr) | |
| X | g.100406940A>T | CA414002249 | PCDH19 | c.1658T>A (p.Ile553Asn) | |
| X | g.100406941T>A | CA414002250 | PCDH19 | c.1657A>T (p.Ile553Phe) | |
| X | g.100406941T>C | CA316363 | PCDH19 | c.1657A>G (p.Ile553Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406941T>G | CA414002251 | PCDH19 | c.1657A>C (p.Ile553Leu) | |
| X | g.100406941T= | CA2447976527 | PCDH19 | c.1657A= (p.Ile553=) | |
| X | g.100406942G>A | CA517747653 | PCDH19 | c.1656C>T (p.Ile552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406942G>C | CA10468857 | PCDH19 | c.1656C>G (p.Ile552Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406942G= | CA2447976528 | PCDH19 | c.1656C= (p.Ile552=) | |
| X | g.100406942G>T | CA517747655 | PCDH19 | c.1656C>A (p.Ile552=) | |
| X | g.100406943A>C | CA414002252 | PCDH19 | c.1655T>G (p.Ile552Ser) | |
| X | g.100406943A>G | CA414002253 | PCDH19 | c.1655T>C (p.Ile552Thr) | |
| X | g.100406943A>T | CA414002254 | PCDH19 | c.1655T>A (p.Ile552Asn) | |
| X | g.100406944T>A | CA414002255 | PCDH19 | c.1654A>T (p.Ile552Phe) | |
| X | g.100406944T>C | CA414002256 | PCDH19 | c.1654A>G (p.Ile552Val) | |
| X | g.100406944T>G | CA414002257 | PCDH19 | c.1654A>C (p.Ile552Leu) | |
| X | g.100406945G>A | CA517747660 | PCDH19 | c.1653C>T (p.Val551=) | |
| X | g.100406945G>C | CA517747662 | PCDH19 | c.1653C>G (p.Val551=) | |
| X | g.100406945G>T | CA517747664 | PCDH19 | c.1653C>A (p.Val551=) | gnomAD v4 |
| X | g.100406946A= | CA2447976529 | PCDH19 | c.1652T= (p.Val551=) | |
| X | g.100406946A>C | CA414002258 | PCDH19 | c.1652T>G (p.Val551Gly) | |
| X | g.100406946A>G | CA414002259 | PCDH19 | c.1652T>C (p.Val551Ala) | ClinVar dbSNP COSMIC COSMIC |
| X | g.100406946A>T | CA414002260 | PCDH19 | c.1652T>A (p.Val551Asp) | ClinVar dbSNP |
| X | g.100406947C>A | CA414002262 | PCDH19 | c.1651G>T (p.Val551Phe) | |
| X | g.100406947C= | CA2447976530 | PCDH19 | c.1651G= (p.Val551=) | |
| X | g.100406947C>G | CA414002261 | PCDH19 | c.1651G>C (p.Val551Leu) | |
| X | g.100406947C>T | CA10468858 | PCDH19 | c.1651G>A (p.Val551Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406948C>A | CA517747667 | PCDH19 | c.1650G>T (p.Arg550=) | |
| X | g.100406948C= | CA2447976531 | PCDH19 | c.1650G= (p.Arg550=) | |
| X | g.100406948C>G | CA517747669 | PCDH19 | c.1650G>C (p.Arg550=) | |
| X | g.100406948C>T | CA10468859 | PCDH19 | c.1650G>A (p.Arg550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406949C>A | CA414002263 | PCDH19 | c.1649G>T (p.Arg550Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406949C= | CA2447976532 | PCDH19 | c.1649G= (p.Arg550=) | |
| X | g.100406949C>G | CA414002264 | PCDH19 | c.1649G>C (p.Arg550Pro) | |
| X | g.100406949C>T | CA10468860 | PCDH19 | c.1649G>A (p.Arg550Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100406950G>A | CA414002265 | PCDH19 | c.1648C>T (p.Arg550Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100406950G>C | CA414002266 | PCDH19 | c.1648C>G (p.Arg550Gly) | |
| X | g.100406950G= | CA2447976533 | PCDH19 | c.1648C= (p.Arg550=) | |
| X | g.100406950G>T | CA517747670 | PCDH19 | c.1648C>A (p.Arg550=) | |
| X | g.100406951C>A | CA517747671 | PCDH19 | c.1647G>T (p.Val549=) | |
| X | g.100406951C>G | CA517747673 | PCDH19 | c.1647G>C (p.Val549=) | |
| X | g.100406951C>T | CA517747674 | PCDH19 | c.1647G>A (p.Val549=) | |
| X | g.100406952A= | CA2447976534 | PCDH19 | c.1646T= (p.Val549=) | |
| X | g.100406952A>C | CA414002267 | PCDH19 | c.1646T>G (p.Val549Gly) | |
| X | g.100406952A>G | CA414002268 | PCDH19 | c.1646T>C (p.Val549Ala) | |
| X | g.100406952A>T | CA414002269 | PCDH19 | c.1646T>A (p.Val549Glu) | |
| X | g.100406953C>A | CA414002270 | PCDH19 | c.1645G>T (p.Val549Leu) | |
| X | g.100406953C>G | CA414002271 | PCDH19 | c.1645G>C (p.Val549Leu) | |
| X | g.100406953C>T | CA414002272 | PCDH19 | c.1645G>A (p.Val549Met) | |
| X | g.100406954dup | CA916083979 | PCDH19 | c.1645dup (p.Val549GlyfsTer22) | ClinVar dbSNP |
| X | g.100406954C>A | CA517747678 | PCDH19 | c.1644G>T (p.Thr548=) | |
| X | g.100406954C= | CA2447976535 | PCDH19 | c.1644G= (p.Thr548=) | |
| X | g.100406954C>G | CA10468861 | PCDH19 | c.1644G>C (p.Thr548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406954C>T | CA292701 | PCDH19 | c.1644G>A (p.Thr548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406955G>A | CA414002273 | PCDH19 | c.1643C>T (p.Thr548Met) | ClinVar dbSNP gnomAD v4 |
| X | g.100406955G>C | CA10468862 | PCDH19 | c.1643C>G (p.Thr548Arg) | dbSNP ExAC gnomAD v4 |
| X | g.100406955G= | CA2447976536 | PCDH19 | c.1643C= (p.Thr548=) | |
| X | g.100406955G>T | CA414002274 | PCDH19 | c.1643C>A (p.Thr548Lys) | |
| X | g.100406956T>A | CA414002275 | PCDH19 | c.1642A>T (p.Thr548Ser) | |
| X | g.100406956T>C | CA333826067 | PCDH19 | c.1642A>G (p.Thr548Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100406956T>G | CA414002276 | PCDH19 | c.1642A>C (p.Thr548Pro) | |
| X | g.100406956T= | CA2447976537 | PCDH19 | c.1642A= (p.Thr548=) | |
| X | g.100406957A>C | CA517747688 | PCDH19 | c.1641T>G (p.Ala547=) | |
| X | g.100406957A>G | CA517747686 | PCDH19 | c.1641T>C (p.Ala547=) | ClinVar dbSNP |
| X | g.100406957A>T | CA517747684 | PCDH19 | c.1641T>A (p.Ala547=) | |
| X | g.100406957_100406958delinsAG | CA2447976538 | PCDH19 | c.1640_1641delinsCT (p.Ala547=) | |
| X | g.100406958G>A | CA414002279 | PCDH19 | c.1640C>T (p.Ala547Val) | |
| X | g.100406958G>C | CA414002277 | PCDH19 | c.1640C>G (p.Ala547Gly) | |
| X | g.100406958G>T | CA414002278 | PCDH19 | c.1640C>A (p.Ala547Asp) | |
| X | g.100406958delinsTA | CA1139667038 | PCDH19 | c.1640delinsTA (p.Ala547ValfsTer24) | ClinVar dbSNP |
| X | g.100406958_100406959delinsAA | CA2447976540 | PCDH19 | c.1639_1640delinsTT (p.Ala547Phe) | ClinVar dbSNP |
| X | g.100406958_100406959delinsGC | CA2447976539 | PCDH19 | c.1639_1640delinsGC (p.Ala547=) | |
| X | g.100406959C>A | CA414002280 | PCDH19 | c.1639G>T (p.Ala547Ser) | |
| X | g.100406959C= | CA2447976541 | PCDH19 | c.1639G= (p.Ala547=) | |
| X | g.100406959C>G | CA414002281 | PCDH19 | c.1639G>C (p.Ala547Pro) | ClinVar dbSNP |
| X | g.100406959C>T | CA414002282 | PCDH19 | c.1639G>A (p.Ala547Thr) | |
| X | g.100406960G>A | CA517747690 | PCDH19 | c.1638C>T (p.Asn546=) | gnomAD v4 |
| X | g.100406960G>C | CA414002283 | PCDH19 | c.1638C>G (p.Asn546Lys) | |
| X | g.100406960G>T | CA414002284 | PCDH19 | c.1638C>A (p.Asn546Lys) | |
| X | g.100406961T>A | CA414002285 | PCDH19 | c.1637A>T (p.Asn546Ile) | |
| X | g.100406961T>C | CA414002287 | PCDH19 | c.1637A>G (p.Asn546Ser) | |
| X | g.100406961T>G | CA414002286 | PCDH19 | c.1637A>C (p.Asn546Thr) | |
| X | g.100406962T>A | CA414002288 | PCDH19 | c.1636A>T (p.Asn546Tyr) | |
| X | g.100406962T>C | CA414002289 | PCDH19 | c.1636A>G (p.Asn546Asp) | |
| X | g.100406962T>G | CA414002290 | PCDH19 | c.1636A>C (p.Asn546His) | |
| X | g.100406963G>A | CA517747693 | PCDH19 | c.1635C>T (p.Ser545=) | |
| X | g.100406963G>C | CA414002291 | PCDH19 | c.1635C>G (p.Ser545Arg) | |
| X | g.100406963G>T | CA414002292 | PCDH19 | c.1635C>A (p.Ser545Arg) | |
| X | g.100406964C>A | CA414002293 | PCDH19 | c.1634G>T (p.Ser545Ile) | |
| X | g.100406964C>G | CA414002294 | PCDH19 | c.1634G>C (p.Ser545Thr) | COSMIC COSMIC |
| X | g.100406964C>T | CA414002295 | PCDH19 | c.1634G>A (p.Ser545Asn) | |
| X | g.100406965T>A | CA414002296 | PCDH19 | c.1633A>T (p.Ser545Cys) | |
| X | g.100406965T>C | CA414002297 | PCDH19 | c.1633A>G (p.Ser545Gly) | |
| X | g.100406965T>G | CA414002298 | PCDH19 | c.1633A>C (p.Ser545Arg) | |
| X | g.100406966T>A | CA414002299 | PCDH19 | c.1632A>T (p.Gln544His) | |
| X | g.100406966T>C | CA517747697 | PCDH19 | c.1632A>G (p.Gln544=) | |
| X | g.100406966T>G | CA414002300 | PCDH19 | c.1632A>C (p.Gln544His) | |
| X | g.100406967T>A | CA414002301 | PCDH19 | c.1631A>T (p.Gln544Leu) | |
| X | g.100406967T>C | CA414002303 | PCDH19 | c.1631A>G (p.Gln544Arg) | |
| X | g.100406967T>G | CA414002302 | PCDH19 | c.1631A>C (p.Gln544Pro) | |
| X | g.100406968G>A | CA414002304 | PCDH19 | c.1630C>T (p.Gln544Ter) | |
| X | g.100406968G>C | CA414002305 | PCDH19 | c.1630C>G (p.Gln544Glu) | |
| X | g.100406968G>T | CA414002306 | PCDH19 | c.1630C>A (p.Gln544Lys) | |
| X | g.100406969C>A | CA517747702 | PCDH19 | c.1629G>T (p.Leu543=) | |
| X | g.100406969C>G | CA517747703 | PCDH19 | c.1629G>C (p.Leu543=) | |
| X | g.100406969C>T | CA517747704 | PCDH19 | c.1629G>A (p.Leu543=) | |
| X | g.100406970A>C | CA414002307 | PCDH19 | c.1628T>G (p.Leu543Arg) | |
| X | g.100406970A>G | CA414002308 | PCDH19 | c.1628T>C (p.Leu543Pro) | ClinVar |
| X | g.100406970A>T | CA414002309 | PCDH19 | c.1628T>A (p.Leu543Gln) | gnomAD v4 |
| X | g.100406971G>A | CA147192 | PCDH19 | c.1627C>T (p.Leu543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406971G>C | CA414002310 | PCDH19 | c.1627C>G (p.Leu543Val) | |
| X | g.100406971G= | CA2447976542 | PCDH19 | c.1627C= (p.Leu543=) | |
| X | g.100406971G>T | CA414002311 | PCDH19 | c.1627C>A (p.Leu543Met) | |
| X | g.100406972T>A | CA517747707 | PCDH19 | c.1626A>T (p.Ser542=) | |
| X | g.100406972T>C | CA517747709 | PCDH19 | c.1626A>G (p.Ser542=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406972T>G | CA517747711 | PCDH19 | c.1626A>C (p.Ser542=) | |
| X | g.100406972T= | CA2447976543 | PCDH19 | c.1626A= (p.Ser542=) | |
| X | g.100406973G>A | CA414002312 | PCDH19 | c.1625C>T (p.Ser542Leu) | |
| X | g.100406973G>C | CA316360 | PCDH19 | c.1625C>G (p.Ser542Ter) | ClinVar dbSNP |
| X | g.100406973G= | CA2447976544 | PCDH19 | c.1625C= (p.Ser542=) | |
| X | g.100406973G>T | CA414002313 | PCDH19 | c.1625C>A (p.Ser542Ter) | |
| X | g.100406974A>C | CA414002314 | PCDH19 | c.1624T>G (p.Ser542Ala) | |
| X | g.100406974A>G | CA414002316 | PCDH19 | c.1624T>C (p.Ser542Pro) | |
| X | g.100406974A>T | CA414002315 | PCDH19 | c.1624T>A (p.Ser542Thr) | |
| X | g.100406974_100406975delinsAG | CA2447976545 | PCDH19 | c.1623_1624delinsCT (p.Pro541=) | |
| X | g.100406975G>A | CA517747714 | PCDH19 | c.1623C>T (p.Pro541=) | |
| X | g.100406975G>C | CA10468863 | PCDH19 | c.1623C>G (p.Pro541=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406975G= | CA2447976546 | PCDH19 | c.1623C= (p.Pro541=) | |
| X | g.100406975G>T | CA517747713 | PCDH19 | c.1623C>A (p.Pro541=) | |
| X | g.100406977del | CA915951269 | PCDH19 | c.1623del (p.Ser542HisfsTer27) | ClinVar dbSNP |
| X | g.100406976G>A | CA414002317 | PCDH19 | c.1622C>T (p.Pro541Leu) | |
| X | g.100406976G>C | CA414002318 | PCDH19 | c.1622C>G (p.Pro541Arg) | |
| X | g.100406976G>T | CA414002319 | PCDH19 | c.1622C>A (p.Pro541His) | |
| X | g.100406977G>A | CA414002320 | PCDH19 | c.1621C>T (p.Pro541Ser) | COSMIC COSMIC |
| X | g.100406977G>C | CA414002321 | PCDH19 | c.1621C>G (p.Pro541Ala) | |
| X | g.100406977G>T | CA414002322 | PCDH19 | c.1621C>A (p.Pro541Thr) | |
| X | g.100406978A>C | CA517747719 | PCDH19 | c.1620T>G (p.Leu540=) | |
| X | g.100406978A>G | CA517747720 | PCDH19 | c.1620T>C (p.Leu540=) | ClinVar gnomAD v4 |
| X | g.100406978A>T | CA517747721 | PCDH19 | c.1620T>A (p.Leu540=) | |
| X | g.100406979A>C | CA414002323 | PCDH19 | c.1619T>G (p.Leu540Arg) | |
| X | g.100406979A>G | CA414002324 | PCDH19 | c.1619T>C (p.Leu540Pro) | |
| X | g.100406979A>T | CA414002325 | PCDH19 | c.1619T>A (p.Leu540His) | |
| X | g.100406980G>A | CA316357 | PCDH19 | c.1618C>T (p.Leu540Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406980G>C | CA414002327 | PCDH19 | c.1618C>G (p.Leu540Val) | |
| X | g.100406980G= | CA2447976547 | PCDH19 | c.1618C= (p.Leu540=) | |
| X | g.100406980G>T | CA414002326 | PCDH19 | c.1618C>A (p.Leu540Ile) | |
| X | g.100406981G>A | CA517747728 | PCDH19 | c.1617C>T (p.Gly539=) | gnomAD v4 |
| X | g.100406981G>C | CA517747726 | PCDH19 | c.1617C>G (p.Gly539=) | gnomAD v4 |
| X | g.100406981G>T | CA517747727 | PCDH19 | c.1617C>A (p.Gly539=) | |
| X | g.100406982C>A | CA414002328 | PCDH19 | c.1616G>T (p.Gly539Val) | |
| X | g.100406982C= | CA2447976548 | PCDH19 | c.1616G= (p.Gly539=) | |
| X | g.100406982C>G | CA414002329 | PCDH19 | c.1616G>C (p.Gly539Ala) | |
| X | g.100406982C>T | CA414002330 | PCDH19 | c.1616G>A (p.Gly539Asp) | dbSNP |
| X | g.100406983C>A | CA414002331 | PCDH19 | c.1615G>T (p.Gly539Cys) | |
| X | g.100406983C>G | CA414002332 | PCDH19 | c.1615G>C (p.Gly539Arg) | |
| X | g.100406983C>T | CA414002333 | PCDH19 | c.1615G>A (p.Gly539Ser) | COSMIC COSMIC |
| X | g.100406984G>A | CA517747731 | PCDH19 | c.1614C>T (p.Gly538=) | dbSNP |
| X | g.100406984G>C | CA517747732 | PCDH19 | c.1614C>G (p.Gly538=) | |
| X | g.100406984G= | CA2447976549 | PCDH19 | c.1614C= (p.Gly538=) | |
| X | g.100406984G>T | CA517747733 | PCDH19 | c.1614C>A (p.Gly538=) | |
| X | g.100406985C>A | CA414002334 | PCDH19 | c.1613G>T (p.Gly538Val) | |
| X | g.100406985C>G | CA414002335 | PCDH19 | c.1613G>C (p.Gly538Ala) | |
| X | g.100406985C>T | CA414002336 | PCDH19 | c.1613G>A (p.Gly538Asp) | ClinVar COSMIC COSMIC |
| X | g.100406986C>A | CA414002337 | PCDH19 | c.1612G>T (p.Gly538Cys) | |
| X | g.100406986C= | CA2447976550 | PCDH19 | c.1612G= (p.Gly538=) | |
| X | g.100406986C>G | CA414002338 | PCDH19 | c.1612G>C (p.Gly538Arg) | |
| X | g.100406986C>T | CA414002339 | PCDH19 | c.1612G>A (p.Gly538Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406986_100406993del | CA2695235309 | PCDH19 | c.1605_1612del (p.Lys536ArgfsTer?) | |
| X | g.100406987G>A | CA10468864 | PCDH19 | c.1611C>T (p.Asp537=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406987G>C | CA414002341 | PCDH19 | c.1611C>G (p.Asp537Glu) | |
| X | g.100406987G= | CA2447976551 | PCDH19 | c.1611C= (p.Asp537=) | |
| X | g.100406987G>T | CA414002340 | PCDH19 | c.1611C>A (p.Asp537Glu) | ClinVar dbSNP |
| X | g.100406988T>A | CA414002342 | PCDH19 | c.1610A>T (p.Asp537Val) | |
| X | g.100406988T>C | CA414002343 | PCDH19 | c.1610A>G (p.Asp537Gly) | |
| X | g.100406988T>G | CA414002344 | PCDH19 | c.1610A>C (p.Asp537Ala) | |
| X | g.100406989C>A | CA414002345 | PCDH19 | c.1609G>T (p.Asp537Tyr) | |
| X | g.100406989C>G | CA414002346 | PCDH19 | c.1609G>C (p.Asp537His) | |
| X | g.100406989C>T | CA414002347 | PCDH19 | c.1609G>A (p.Asp537Asn) | |
| X | g.100406990C>A | CA414002348 | PCDH19 | c.1608G>T (p.Lys536Asn) | |
| X | g.100406990C>G | CA414002349 | PCDH19 | c.1608G>C (p.Lys536Asn) | |
| X | g.100406990C>T | CA517747746 | PCDH19 | c.1608G>A (p.Lys536=) | |
| X | g.100406991T>A | CA414002350 | PCDH19 | c.1607A>T (p.Lys536Met) | |
| X | g.100406991T>C | CA414002351 | PCDH19 | c.1607A>G (p.Lys536Arg) | |
| X | g.100406991T>G | CA414002352 | PCDH19 | c.1607A>C (p.Lys536Thr) | |
| X | g.100406992T>A | CA414002353 | PCDH19 | c.1606A>T (p.Lys536Ter) | |
| X | g.100406992T>C | CA414002354 | PCDH19 | c.1606A>G (p.Lys536Glu) | |
| X | g.100406992T>G | CA414002355 | PCDH19 | c.1606A>C (p.Lys536Gln) | |
| X | g.100406993G>A | CA10468865 | PCDH19 | c.1605C>T (p.Ala535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.100406993G>C | CA517747953 | PCDH19 | c.1605C>G (p.Ala535=) | |
| X | g.100406993G= | CA2447976552 | PCDH19 | c.1605C= (p.Ala535=) | |
| X | g.100406993G>T | CA517747954 | PCDH19 | c.1605C>A (p.Ala535=) | dbSNP |
| X | g.100406994G>A | CA414002357 | PCDH19 | c.1604C>T (p.Ala535Val) | |
| X | g.100406994G>C | CA414002356 | PCDH19 | c.1604C>G (p.Ala535Gly) | |
| X | g.100406994G>T | CA414002358 | PCDH19 | c.1604C>A (p.Ala535Asp) |