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.100406926_100406928del | CA2694245852 | PCDH19 | c.1672_1674del (p.Asp558del) | 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.100406992dup | CA2843527219 | PCDH19 | c.1607dup (p.Asp537GlyfsTer?) | |
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) | |
X | g.100406995C>A | CA414002359 | PCDH19 | c.1603G>T (p.Ala535Ser) | |
X | g.100406995C>G | CA414002361 | PCDH19 | c.1603G>C (p.Ala535Pro) | |
X | g.100406995C>T | CA414002360 | PCDH19 | c.1603G>A (p.Ala535Thr) | |
X | g.100406996C>A | CA517747958 | PCDH19 | c.1602G>T (p.Leu534=) | |
X | g.100406996C= | CA2447976553 | PCDH19 | c.1602G= (p.Leu534=) | |
X | g.100406996C>G | CA517747959 | PCDH19 | c.1602G>C (p.Leu534=) | |
X | g.100406996C>T | CA10468866 | PCDH19 | c.1602G>A (p.Leu534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100406997A>C | CA414002364 | PCDH19 | c.1601T>G (p.Leu534Arg) | |
X | g.100406997A>G | CA414002362 | PCDH19 | c.1601T>C (p.Leu534Pro) | ClinVar |
X | g.100406997A>T | CA414002363 | PCDH19 | c.1601T>A (p.Leu534Gln) | |
X | g.100406998G>A | CA517747960 | PCDH19 | c.1600C>T (p.Leu534=) | |
X | g.100406998G>C | CA414002365 | PCDH19 | c.1600C>G (p.Leu534Val) | |
X | g.100406998G>T | CA414002366 | PCDH19 | c.1600C>A (p.Leu534Met) | |
X | g.100406999C>A | CA517747964 | PCDH19 | c.1599G>T (p.Val533=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100406999C= | CA2447976554 | PCDH19 | c.1599G= (p.Val533=) | |
X | g.100406999C>G | CA517747965 | PCDH19 | c.1599G>C (p.Val533=) | |
X | g.100406999C>T | CA517747966 | PCDH19 | c.1599G>A (p.Val533=) | |
X | g.100406999dup | CA2840039128 | PCDH19 | c.1599dup (p.Leu534AlafsTer?) | |
X | g.100407000A>C | CA414002367 | PCDH19 | c.1598T>G (p.Val533Gly) | |
X | g.100407000A>G | CA414002368 | PCDH19 | c.1598T>C (p.Val533Ala) | gnomAD v4 |
X | g.100407000A>T | CA414002369 | PCDH19 | c.1598T>A (p.Val533Glu) | |
X | g.100407001C>A | CA414002370 | PCDH19 | c.1597G>T (p.Val533Leu) | |
X | g.100407001C>G | CA414002371 | PCDH19 | c.1597G>C (p.Val533Leu) | |
X | g.100407001C>T | CA414002372 | PCDH19 | c.1597G>A (p.Val533Met) | |
X | g.100407002C>A | CA414002373 | PCDH19 | c.1596G>T (p.Lys532Asn) | |
X | g.100407002C= | CA2447976555 | PCDH19 | c.1596G= (p.Lys532=) | |
X | g.100407002C>G | CA414002374 | PCDH19 | c.1596G>C (p.Lys532Asn) | |
X | g.100407002C>T | CA517747969 | PCDH19 | c.1596G>A (p.Lys532=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100407003T>A | CA414002375 | PCDH19 | c.1595A>T (p.Lys532Met) | |
X | g.100407003T>C | CA414002377 | PCDH19 | c.1595A>G (p.Lys532Arg) | gnomAD v4 |
X | g.100407003T>G | CA414002376 | PCDH19 | c.1595A>C (p.Lys532Thr) | |
X | g.100407004T>A | CA414002378 | PCDH19 | c.1594A>T (p.Lys532Ter) | |
X | g.100407004T>C | CA414002379 | PCDH19 | c.1594A>G (p.Lys532Glu) | |
X | g.100407004T>G | CA414002380 | PCDH19 | c.1594A>C (p.Lys532Gln) | |
X | g.100407005G>A | CA10468867 | PCDH19 | c.1593C>T (p.Phe531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100407005G>C | CA414002381 | PCDH19 | c.1593C>G (p.Phe531Leu) | dbSNP |
X | g.100407005G= | CA2447976556 | PCDH19 | c.1593C= (p.Phe531=) | |
X | g.100407005G>T | CA333826068 | PCDH19 | c.1593C>A (p.Phe531Leu) | dbSNP gnomAD v4 |
X | g.100407006A>C | CA414002382 | PCDH19 | c.1592T>G (p.Phe531Cys) | |
X | g.100407006A>G | CA414002383 | PCDH19 | c.1592T>C (p.Phe531Ser) | |
X | g.100407006A>T | CA414002384 | PCDH19 | c.1592T>A (p.Phe531Tyr) | |
X | g.100407007A>C | CA414002386 | PCDH19 | c.1591T>G (p.Phe531Val) | |
X | g.100407007A>G | CA414002387 | PCDH19 | c.1591T>C (p.Phe531Leu) | |
X | g.100407007A>T | CA414002385 | PCDH19 | c.1591T>A (p.Phe531Ile) | |
X | g.100407008T>A | CA414002388 | PCDH19 | c.1590A>T (p.Glu530Asp) | |
X | g.100407008T>C | CA517747971 | PCDH19 | c.1590A>G (p.Glu530=) | |
X | g.100407008T>G | CA414002389 | PCDH19 | c.1590A>C (p.Glu530Asp) | |
X | g.100407009T>A | CA414002390 | PCDH19 | c.1589A>T (p.Glu530Val) | |
X | g.100407009T>C | CA414002391 | PCDH19 | c.1589A>G (p.Glu530Gly) | |
X | g.100407009T>G | CA414002392 | PCDH19 | c.1589A>C (p.Glu530Ala) | |
X | g.100407010C>A | CA414002395 | PCDH19 | c.1588G>T (p.Glu530Ter) | |
X | g.100407010C>G | CA414002393 | PCDH19 | c.1588G>C (p.Glu530Gln) | |
X | g.100407010C>T | CA414002394 | PCDH19 | c.1588G>A (p.Glu530Lys) | COSMIC COSMIC |
X | g.100407011G>A | CA517747973 | PCDH19 | c.1587C>T (p.Phe529=) | |
X | g.100407011G>C | CA414002396 | PCDH19 | c.1587C>G (p.Phe529Leu) | |
X | g.100407011G>T | CA414002397 | PCDH19 | c.1587C>A (p.Phe529Leu) | |
X | g.100407012A>C | CA414002398 | PCDH19 | c.1586T>G (p.Phe529Cys) | |
X | g.100407012A>G | CA414002399 | PCDH19 | c.1586T>C (p.Phe529Ser) | |
X | g.100407012A>T | CA414002400 | PCDH19 | c.1586T>A (p.Phe529Tyr) | |
X | g.100407013A>C | CA414002401 | PCDH19 | c.1585T>G (p.Phe529Val) | |
X | g.100407013A>G | CA414002403 | PCDH19 | c.1585T>C (p.Phe529Leu) | |
X | g.100407013A>T | CA414002402 | PCDH19 | c.1585T>A (p.Phe529Ile) | |
X | g.100407014C>A | CA517747974 | PCDH19 | c.1584G>T (p.Ala528=) | gnomAD v4 |
X | g.100407014C>G | CA517747975 | PCDH19 | c.1584G>C (p.Ala528=) | |
X | g.100407014C>T | CA517747976 | PCDH19 | c.1584G>A (p.Ala528=) | |
X | g.100407015G>A | CA414002404 | PCDH19 | c.1583C>T (p.Ala528Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.100407015G>C | CA414002405 | PCDH19 | c.1583C>G (p.Ala528Gly) | |
X | g.100407015G= | CA2447976557 | PCDH19 | c.1583C= (p.Ala528=) | |
X | g.100407015G>T | CA414002406 | PCDH19 | c.1583C>A (p.Ala528Glu) | |
X | g.100407016C>A | CA414002407 | PCDH19 | c.1582G>T (p.Ala528Ser) | |
X | g.100407016C>G | CA414002408 | PCDH19 | c.1582G>C (p.Ala528Pro) | |
X | g.100407016C>T | CA414002409 | PCDH19 | c.1582G>A (p.Ala528Thr) | |
X | g.100407017C>A | CA414002410 | PCDH19 | c.1581G>T (p.Lys527Asn) | |
X | g.100407017C= | CA2447976558 | PCDH19 | c.1581G= (p.Lys527=) | |
X | g.100407017C>G | CA414002411 | PCDH19 | c.1581G>C (p.Lys527Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.100407017C>T | CA517747978 | PCDH19 | c.1581G>A (p.Lys527=) | ClinVar |
X | g.100407018T>A | CA414002412 | PCDH19 | c.1580A>T (p.Lys527Met) | |
X | g.100407018T>C | CA414002413 | PCDH19 | c.1580A>G (p.Lys527Arg) | |
X | g.100407018T>G | CA414002414 | PCDH19 | c.1580A>C (p.Lys527Thr) | |
X | g.100407019T>A | CA414002416 | PCDH19 | c.1579A>T (p.Lys527Ter) | |
X | g.100407019T>C | CA414002417 | PCDH19 | c.1579A>G (p.Lys527Glu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100407019T>G | CA414002415 | PCDH19 | c.1579A>C (p.Lys527Gln) | |
X | g.100407019T= | CA2447976559 | PCDH19 | c.1579A= (p.Lys527=) | |
X | g.100407020G>A | CA517747980 | PCDH19 | c.1578C>T (p.Thr526=) | |
X | g.100407020G>C | CA333826069 | PCDH19 | c.1578C>G (p.Thr526=) | dbSNP gnomAD v4 |
X | g.100407020G= | CA2447976560 | PCDH19 | c.1578C= (p.Thr526=) | |
X | g.100407020G>T | CA517747981 | PCDH19 | c.1578C>A (p.Thr526=) | COSMIC COSMIC |
X | g.100407021G>A | CA414002420 | PCDH19 | c.1577C>T (p.Thr526Ile) | |
X | g.100407021G>C | CA414002418 | PCDH19 | c.1577C>G (p.Thr526Ser) | |
X | g.100407021G>T | CA414002419 | PCDH19 | c.1577C>A (p.Thr526Asn) | |
X | g.100407022T>A | CA414002421 | PCDH19 | c.1576A>T (p.Thr526Ser) | |
X | g.100407022T>C | CA414002422 | PCDH19 | c.1576A>G (p.Thr526Ala) | |
X | g.100407022T>G | CA414002423 | PCDH19 | c.1576A>C (p.Thr526Pro) | |
X | g.100407023C>A | CA414002424 | PCDH19 | c.1575G>T (p.Gln525His) | |
X | g.100407023C>G | CA414002425 | PCDH19 | c.1575G>C (p.Gln525His) | |
X | g.100407023C>T | CA517747983 | PCDH19 | c.1575G>A (p.Gln525=) | |
X | g.100407024T>A | CA414002426 | PCDH19 | c.1574A>T (p.Gln525Leu) | |
X | g.100407024T>C | CA414002427 | PCDH19 | c.1574A>G (p.Gln525Arg) | |
X | g.100407024T>G | CA414002428 | PCDH19 | c.1574A>C (p.Gln525Pro) | |
X | g.100407025G>A | CA414002429 | PCDH19 | c.1573C>T (p.Gln525Ter) | |
X | g.100407025G>C | CA414002430 | PCDH19 | c.1573C>G (p.Gln525Glu) | |
X | g.100407025G>T | CA414002431 | PCDH19 | c.1573C>A (p.Gln525Lys) | |
X | g.100407026C>A | CA414002432 | PCDH19 | c.1572G>T (p.Glu524Asp) | |
X | g.100407026C>G | CA414002433 | PCDH19 | c.1572G>C (p.Glu524Asp) | |
X | g.100407026C>T | CA517747986 | PCDH19 | c.1572G>A (p.Glu524=) | COSMIC COSMIC |
X | g.100407027T>A | CA414002434 | PCDH19 | c.1571A>T (p.Glu524Val) | |
X | g.100407027T>C | CA414002435 | PCDH19 | c.1571A>G (p.Glu524Gly) | |
X | g.100407027T>G | CA414002436 | PCDH19 | c.1571A>C (p.Glu524Ala) |