OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408410A>C | CA414011192 | PCDH19 | c.188T>G (p.Val63Gly) | |
| X | g.100408410A>G | CA414011194 | PCDH19 | c.188T>C (p.Val63Ala) | |
| X | g.100408410A>T | CA414011193 | PCDH19 | c.188T>A (p.Val63Glu) | |
| X | g.100408411C>A | CA414011195 | PCDH19 | c.187G>T (p.Val63Leu) | gnomAD v4 |
| X | g.100408411C>G | CA414011197 | PCDH19 | c.187G>C (p.Val63Leu) | |
| X | g.100408411C>T | CA414011196 | PCDH19 | c.187G>A (p.Val63Met) | |
| X | g.100408412G>A | CA517748719 | PCDH19 | c.186C>T (p.Arg62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408412G>C | CA517748720 | PCDH19 | c.186C>G (p.Arg62=) | |
| X | g.100408412G= | CA2447977139 | PCDH19 | c.186C= (p.Arg62=) | |
| X | g.100408412G>T | CA517748721 | PCDH19 | c.186C>A (p.Arg62=) | |
| X | g.100408413C>A | CA10469009 | PCDH19 | c.185G>T (p.Arg62Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408413C= | CA2447977140 | PCDH19 | c.185G= (p.Arg62=) | |
| X | g.100408413C>G | CA414011198 | PCDH19 | c.185G>C (p.Arg62Pro) | |
| X | g.100408413C>T | CA333826108 | PCDH19 | c.185G>A (p.Arg62His) | dbSNP |
| X | g.100408414G>A | CA414011199 | PCDH19 | c.184C>T (p.Arg62Cys) | |
| X | g.100408414G>C | CA414011201 | PCDH19 | c.184C>G (p.Arg62Gly) | |
| X | g.100408414G>T | CA414011200 | PCDH19 | c.184C>A (p.Arg62Ser) | gnomAD v4 |
| X | g.100408415A>C | CA414011202 | PCDH19 | c.183T>G (p.Phe61Leu) | |
| X | g.100408415A>G | CA517748726 | PCDH19 | c.183T>C (p.Phe61=) | |
| X | g.100408415A>T | CA414011203 | PCDH19 | c.183T>A (p.Phe61Leu) | |
| X | g.100408417dup | CA2695234750 | PCDH19 | c.183dup (p.Arg62SerfsTer27) | |
| X | g.100408416A>C | CA414011204 | PCDH19 | c.182T>G (p.Phe61Cys) | gnomAD v4 |
| X | g.100408416A>G | CA414011206 | PCDH19 | c.182T>C (p.Phe61Ser) | gnomAD v4 |
| X | g.100408416A>T | CA414011205 | PCDH19 | c.182T>A (p.Phe61Tyr) | |
| X | g.100408417A>C | CA414011207 | PCDH19 | c.181T>G (p.Phe61Val) | |
| X | g.100408417A>G | CA414011208 | PCDH19 | c.181T>C (p.Phe61Leu) | |
| X | g.100408417A>T | CA414011209 | PCDH19 | c.181T>A (p.Phe61Ile) | |
| X | g.100408418G>A | CA517748733 | PCDH19 | c.180C>T (p.Ala60=) | |
| X | g.100408418G>C | CA517748731 | PCDH19 | c.180C>G (p.Ala60=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408418G= | CA2447977141 | PCDH19 | c.180C= (p.Ala60=) | |
| X | g.100408418G>T | CA517748729 | PCDH19 | c.180C>A (p.Ala60=) | |
| X | g.100408419G>A | CA10469010 | PCDH19 | c.179C>T (p.Ala60Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408419G>C | CA414011210 | PCDH19 | c.179C>G (p.Ala60Gly) | |
| X | g.100408419G= | CA2447977142 | PCDH19 | c.179C= (p.Ala60=) | |
| X | g.100408419G>T | CA414011211 | PCDH19 | c.179C>A (p.Ala60Asp) | |
| X | g.100408420C>A | CA414011212 | PCDH19 | c.178G>T (p.Ala60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408420C= | CA2447977143 | PCDH19 | c.178G= (p.Ala60=) | |
| X | g.100408420C>G | CA414011213 | PCDH19 | c.178G>C (p.Ala60Pro) | |
| X | g.100408420C>T | CA414011214 | PCDH19 | c.178G>A (p.Ala60Thr) | |
| X | g.100408420_100408421insGG | CA2504833779 | PCDH19 | c.177_178insCC (p.Ala60ProfsTer13) | |
| X | g.100408421T>A | CA517748738 | PCDH19 | c.177A>T (p.Ser59=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408421T>C | CA517748740 | PCDH19 | c.177A>G (p.Ser59=) | gnomAD v4 |
| X | g.100408421T>G | CA517748741 | PCDH19 | c.177A>C (p.Ser59=) | ClinVar dbSNP |
| X | g.100408421T= | CA2447977144 | PCDH19 | c.177A= (p.Ser59=) | |
| X | g.100408422G>A | CA414011217 | PCDH19 | c.176C>T (p.Ser59Leu) | |
| X | g.100408422G>C | CA414011216 | PCDH19 | c.176C>G (p.Ser59Ter) | |
| X | g.100408422G>T | CA414011215 | PCDH19 | c.176C>A (p.Ser59Ter) | gnomAD v4 |
| X | g.100408428_100408450del | CA2695234751 | PCDH19 | c.154_176del (p.Ala52SerfsTer29) | |
| X | g.100408423A>C | CA414011218 | PCDH19 | c.175T>G (p.Ser59Ala) | |
| X | g.100408423A>G | CA414011219 | PCDH19 | c.175T>C (p.Ser59Pro) | |
| X | g.100408423A>T | CA414011220 | PCDH19 | c.175T>A (p.Ser59Thr) | |
| X | g.100408423_100408424del | CA2524514447 | PCDH19 | c.174_175del (p.Ala60LeufsTer28) | |
| X | g.100408424A>C | CA517748748 | PCDH19 | c.174T>G (p.Ala58=) | |
| X | g.100408424A>G | CA517748743 | PCDH19 | c.174T>C (p.Ala58=) | |
| X | g.100408424A>T | CA517748746 | PCDH19 | c.174T>A (p.Ala58=) | |
| X | g.100408425G>A | CA414011221 | PCDH19 | c.173C>T (p.Ala58Val) | |
| X | g.100408425G>C | CA414011222 | PCDH19 | c.173C>G (p.Ala58Gly) | |
| X | g.100408425G>T | CA414011223 | PCDH19 | c.173C>A (p.Ala58Asp) | |
| X | g.100408426C>A | CA10469011 | PCDH19 | c.172G>T (p.Ala58Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408426C= | CA2447977145 | PCDH19 | c.172G= (p.Ala58=) | |
| X | g.100408426C>G | CA414011224 | PCDH19 | c.172G>C (p.Ala58Pro) | |
| X | g.100408426C>T | CA414011225 | PCDH19 | c.172G>A (p.Ala58Thr) | |
| X | g.100408427C>A | CA414011226 | PCDH19 | c.171G>T (p.Gln57His) | |
| X | g.100408427C>G | CA414011227 | PCDH19 | c.171G>C (p.Gln57His) | |
| X | g.100408427C>T | CA517748750 | PCDH19 | c.171G>A (p.Gln57=) | |
| X | g.100408428T>A | CA414011229 | PCDH19 | c.170A>T (p.Gln57Leu) | |
| X | g.100408428T>C | CA414011230 | PCDH19 | c.170A>G (p.Gln57Arg) | |
| X | g.100408428T>G | CA414011228 | PCDH19 | c.170A>C (p.Gln57Pro) | |
| X | g.100408429G>A | CA414011231 | PCDH19 | c.169C>T (p.Gln57Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408429G>C | CA414011232 | PCDH19 | c.169C>G (p.Gln57Glu) | |
| X | g.100408429G= | CA2447977146 | PCDH19 | c.169C= (p.Gln57=) | |
| X | g.100408429G>T | CA414011233 | PCDH19 | c.169C>A (p.Gln57Lys) | gnomAD v4 |
| X | g.100408430C>A | CA517748758 | PCDH19 | c.168G>T (p.Arg56=) | gnomAD v4 |
| X | g.100408430C>G | CA517748756 | PCDH19 | c.168G>C (p.Arg56=) | |
| X | g.100408430C>T | CA517748757 | PCDH19 | c.168G>A (p.Arg56=) | gnomAD v4 |
| X | g.100408431C>A | CA414011234 | PCDH19 | c.167G>T (p.Arg56Leu) | |
| X | g.100408431C= | CA2447977147 | PCDH19 | c.167G= (p.Arg56=) | |
| X | g.100408431C>G | CA414011235 | PCDH19 | c.167G>C (p.Arg56Pro) | |
| X | g.100408431C>T | CA414011236 | PCDH19 | c.167G>A (p.Arg56Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.100408432G>A | CA414011237 | PCDH19 | c.166C>T (p.Arg56Trp) | |
| X | g.100408432G>C | CA333826109 | PCDH19 | c.166C>G (p.Arg56Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408432G= | CA2447977148 | PCDH19 | c.166C= (p.Arg56=) | |
| X | g.100408432G>T | CA517748759 | PCDH19 | c.166C>A (p.Arg56=) | gnomAD v4 |
| X | g.100408436del | CA2543821128 | PCDH19 | c.166del (p.Arg56GlyfsTer16) | gnomAD v4 |
| X | g.100408433G>A | CA517748763 | PCDH19 | c.165C>T (p.Pro55=) | |
| X | g.100408433G>C | CA16616622 | PCDH19 | c.165C>G (p.Pro55=) | ClinVar dbSNP |
| X | g.100408433G= | CA2447977149 | PCDH19 | c.165C= (p.Pro55=) | |
| X | g.100408433G>T | CA517748765 | PCDH19 | c.165C>A (p.Pro55=) | gnomAD v4 |
| X | g.100408434G>A | CA414011238 | PCDH19 | c.164C>T (p.Pro55Leu) | gnomAD v4 |
| X | g.100408434G>C | CA414011239 | PCDH19 | c.164C>G (p.Pro55Arg) | ClinVar dbSNP |
| X | g.100408434G= | CA2447977150 | PCDH19 | c.164C= (p.Pro55=) | |
| X | g.100408434G>T | CA414011240 | PCDH19 | c.164C>A (p.Pro55His) | gnomAD v4 |
| X | g.100408435G>A | CA414011242 | PCDH19 | c.163C>T (p.Pro55Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408435G>C | CA10469012 | PCDH19 | c.163C>G (p.Pro55Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408435G= | CA2447977151 | PCDH19 | c.163C= (p.Pro55=) | |
| X | g.100408435G>T | CA414011241 | PCDH19 | c.163C>A (p.Pro55Thr) | gnomAD v4 |
| X | g.100408436G>A | CA333826110 | PCDH19 | c.162C>T (p.Asp54=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408436G>C | CA414011243 | PCDH19 | c.162C>G (p.Asp54Glu) | |
| X | g.100408436G= | CA2447977152 | PCDH19 | c.162C= (p.Asp54=) | |
| X | g.100408436G>T | CA414011244 | PCDH19 | c.162C>A (p.Asp54Glu) | gnomAD v4 |
| X | g.100408437T>A | CA414011245 | PCDH19 | c.161A>T (p.Asp54Val) | |
| X | g.100408437T>C | CA414011246 | PCDH19 | c.161A>G (p.Asp54Gly) | |
| X | g.100408437T>G | CA414011247 | PCDH19 | c.161A>C (p.Asp54Ala) | |
| X | g.100408438C>A | CA414011250 | PCDH19 | c.160G>T (p.Asp54Tyr) | |
| X | g.100408438C>G | CA414011248 | PCDH19 | c.160G>C (p.Asp54His) | |
| X | g.100408438C>T | CA414011249 | PCDH19 | c.160G>A (p.Asp54Asn) | gnomAD v4 |
| X | g.100408439del | CA2579659336 | PCDH19 | c.160del (p.Asp54ThrfsTer18) | |
| X | g.100408439C>A | CA517748772 | PCDH19 | c.159G>T (p.Leu53=) | |
| X | g.100408439C>G | CA517748773 | PCDH19 | c.159G>C (p.Leu53=) | |
| X | g.100408439C>T | CA517748774 | PCDH19 | c.159G>A (p.Leu53=) | |
| X | g.100408440A>C | CA414011251 | PCDH19 | c.158T>G (p.Leu53Arg) | |
| X | g.100408440A>G | CA414011252 | PCDH19 | c.158T>C (p.Leu53Pro) | gnomAD v4 |
| X | g.100408440A>T | CA414011253 | PCDH19 | c.158T>A (p.Leu53Gln) | gnomAD v4 |
| X | g.100408440dup | CA2580100092 | PCDH19 | c.158dup (p.Asp54GlyfsTer?) | ClinVar |
| X | g.100408441G>A | CA517748776 | PCDH19 | c.157C>T (p.Leu53=) | |
| X | g.100408441G>C | CA414011254 | PCDH19 | c.157C>G (p.Leu53Val) | |
| X | g.100408441G>T | CA414011255 | PCDH19 | c.157C>A (p.Leu53Met) | gnomAD v4 |
| X | g.100408442C>A | CA517748779 | PCDH19 | c.156G>T (p.Ala52=) | gnomAD v4 |
| X | g.100408442C>G | CA517748781 | PCDH19 | c.156G>C (p.Ala52=) | |
| X | g.100408442C>T | CA517748782 | PCDH19 | c.156G>A (p.Ala52=) | gnomAD v4 |
| X | g.100408443G>A | CA414011258 | PCDH19 | c.155C>T (p.Ala52Val) | ClinVar dbSNP |
| X | g.100408443G>C | CA414011257 | PCDH19 | c.155C>G (p.Ala52Gly) | |
| X | g.100408443G= | CA2695202054 | PCDH19 | c.155C= (p.Ala52=) | |
| X | g.100408443G>T | CA414011256 | PCDH19 | c.155C>A (p.Ala52Glu) | |
| X | g.100408444C>A | CA414011259 | PCDH19 | c.154G>T (p.Ala52Ser) | |
| X | g.100408444C= | CA2447977153 | PCDH19 | c.154G= (p.Ala52=) | |
| X | g.100408444C>G | CA414011261 | PCDH19 | c.154G>C (p.Ala52Pro) | ClinVar dbSNP gnomAD v4 |
| X | g.100408444C>T | CA414011260 | PCDH19 | c.154G>A (p.Ala52Thr) | gnomAD v4 |
| X | g.100408445G>A | CA517748785 | PCDH19 | c.153C>T (p.Phe51=) | |
| X | g.100408445G>C | CA414011262 | PCDH19 | c.153C>G (p.Phe51Leu) | |
| X | g.100408445G>T | CA414011263 | PCDH19 | c.153C>A (p.Phe51Leu) | |
| X | g.100408446A>C | CA414011264 | PCDH19 | c.152T>G (p.Phe51Cys) | |
| X | g.100408446A>G | CA414011265 | PCDH19 | c.152T>C (p.Phe51Ser) | |
| X | g.100408446A>T | CA414011266 | PCDH19 | c.152T>A (p.Phe51Tyr) | |
| X | g.100408447dup | CA2695234752 | PCDH19 | c.152dup (p.Ala52ArgfsTer?) | |
| X | g.100408447A>C | CA414011267 | PCDH19 | c.151T>G (p.Phe51Val) | |
| X | g.100408447A>G | CA414011268 | PCDH19 | c.151T>C (p.Phe51Leu) | |
| X | g.100408447A>T | CA414011269 | PCDH19 | c.151T>A (p.Phe51Ile) | |
| X | g.100408448G>A | CA517748791 | PCDH19 | c.150C>T (p.Gly50=) | |
| X | g.100408448G>C | CA517748792 | PCDH19 | c.150C>G (p.Gly50=) | |
| X | g.100408448G>T | CA517748793 | PCDH19 | c.150C>A (p.Gly50=) | gnomAD v4 |
| X | g.100408448dup | CA2697544634 | PCDH19 | c.150dup (p.Phe51LeufsTer?) | ClinVar |
| X | g.100408449C>A | CA414011270 | PCDH19 | c.149G>T (p.Gly50Val) | |
| X | g.100408449C>G | CA414011271 | PCDH19 | c.149G>C (p.Gly50Ala) | |
| X | g.100408449C>T | CA414011272 | PCDH19 | c.149G>A (p.Gly50Asp) | gnomAD v4 |
| X | g.100408450C>A | CA414011275 | PCDH19 | c.148G>T (p.Gly50Cys) | |
| X | g.100408450C>G | CA414011274 | PCDH19 | c.148G>C (p.Gly50Arg) | |
| X | g.100408450C>T | CA414011273 | PCDH19 | c.148G>A (p.Gly50Ser) | gnomAD v4 |
| X | g.100408451C>A | CA517748801 | PCDH19 | c.147G>T (p.Ala49=) | |
| X | g.100408451C>G | CA517748803 | PCDH19 | c.147G>C (p.Ala49=) | |
| X | g.100408451C>T | CA517748802 | PCDH19 | c.147G>A (p.Ala49=) | |
| X | g.100408452G>A | CA414011276 | PCDH19 | c.146C>T (p.Ala49Val) | gnomAD v4 |
| X | g.100408452G>C | CA414011277 | PCDH19 | c.146C>G (p.Ala49Gly) | |
| X | g.100408452G>T | CA414011278 | PCDH19 | c.146C>A (p.Ala49Glu) | gnomAD v4 |
| X | g.100408453C>A | CA414011279 | PCDH19 | c.145G>T (p.Ala49Ser) | gnomAD v4 |
| X | g.100408453C= | CA2447977154 | PCDH19 | c.145G= (p.Ala49=) | |
| X | g.100408453C>G | CA414011280 | PCDH19 | c.145G>C (p.Ala49Pro) | |
| X | g.100408453C>T | CA414011281 | PCDH19 | c.145G>A (p.Ala49Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408454C>A | CA414011282 | PCDH19 | c.144G>T (p.Glu48Asp) | |
| X | g.100408454C>G | CA414011283 | PCDH19 | c.144G>C (p.Glu48Asp) | |
| X | g.100408454C>T | CA517748807 | PCDH19 | c.144G>A (p.Glu48=) | |
| X | g.100408455T>A | CA414011284 | PCDH19 | c.143A>T (p.Glu48Val) | |
| X | g.100408455T>C | CA414011285 | PCDH19 | c.143A>G (p.Glu48Gly) | dbSNP |
| X | g.100408455T>G | CA414011286 | PCDH19 | c.143A>C (p.Glu48Ala) | |
| X | g.100408455T= | CA2447977155 | PCDH19 | c.143A= (p.Glu48=) | |
| X | g.100408456C>A | CA121300 | PCDH19 | c.142G>T (p.Glu48Ter) | ClinVar dbSNP |
| X | g.100408456C= | CA2447977156 | PCDH19 | c.142G= (p.Glu48=) | |
| X | g.100408456C>G | CA414011288 | PCDH19 | c.142G>C (p.Glu48Gln) | |
| X | g.100408456C>T | CA414011287 | PCDH19 | c.142G>A (p.Glu48Lys) | dbSNP gnomAD v2 |
| X | g.100408456_100408481dup | CA2580612244 | PCDH19 | c.117_142dup (p.Glu48ValfsTer33) | ClinVar |
| X | g.100408457T>A | CA517748809 | PCDH19 | c.141A>T (p.Arg47=) | |
| X | g.100408457T>C | CA517748810 | PCDH19 | c.141A>G (p.Arg47=) | |
| X | g.100408457T>G | CA517748811 | PCDH19 | c.141A>C (p.Arg47=) | |
| X | g.100408458C>A | CA414011289 | PCDH19 | c.140G>T (p.Arg47Leu) | ClinVar gnomAD v4 |
| X | g.100408458C>G | CA414011290 | PCDH19 | c.140G>C (p.Arg47Pro) | |
| X | g.100408458C>T | CA414011291 | PCDH19 | c.140G>A (p.Arg47Gln) | |
| X | g.100408459G>A | CA414011292 | PCDH19 | c.139C>T (p.Arg47Ter) | ClinVar |
| X | g.100408459G>C | CA10469013 | PCDH19 | c.139C>G (p.Arg47Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408459G= | CA2447977157 | PCDH19 | c.139C= (p.Arg47=) | |
| X | g.100408459G>T | CA517748816 | PCDH19 | c.139C>A (p.Arg47=) | gnomAD v4 |
| X | g.100408459_100408460delinsAA | CA658659031 | PCDH19 | c.138_139delinsTT (p.Ala47Ter) | ClinVar dbSNP |
| X | g.100408459_100408460delinsGC | CA2447977158 | PCDH19 | c.138_139delinsGC (p.Ala46=) | |
| X | g.100408460C>A | CA517748817 | PCDH19 | c.138G>T (p.Ala46=) | gnomAD v4 |
| X | g.100408460C>G | CA517748818 | PCDH19 | c.138G>C (p.Ala46=) | |
| X | g.100408460C>T | CA517748819 | PCDH19 | c.138G>A (p.Ala46=) | gnomAD v4 COSMIC |
| X | g.100408461G>A | CA414011293 | PCDH19 | c.137C>T (p.Ala46Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408461G>C | CA414011294 | PCDH19 | c.137C>G (p.Ala46Gly) | |
| X | g.100408461G= | CA2447977159 | PCDH19 | c.137C= (p.Ala46=) | |
| X | g.100408461G>T | CA414011295 | PCDH19 | c.137C>A (p.Ala46Glu) | gnomAD v4 |
| X | g.100408462C>A | CA414011296 | PCDH19 | c.136G>T (p.Ala46Ser) | |
| X | g.100408462C>G | CA414011297 | PCDH19 | c.136G>C (p.Ala46Pro) | |
| X | g.100408462C>T | CA414011298 | PCDH19 | c.136G>A (p.Ala46Thr) | gnomAD v4 |
| X | g.100408462_100408464delinsCGT | CA2447977160 | PCDH19 | c.134_136delinsACG (p.Asp45=) | |
| X | g.100408463G>A | CA517748826 | PCDH19 | c.135C>T (p.Asp45=) | gnomAD v4 COSMIC |
| X | g.100408463G>C | CA414011299 | PCDH19 | c.135C>G (p.Asp45Glu) | gnomAD v4 |
| X | g.100408463G>T | CA414011300 | PCDH19 | c.135C>A (p.Asp45Glu) | gnomAD v4 |
| X | g.100408463_100408464del | CA915951278 | PCDH19 | c.134_135del (p.Asp45GlyfsTer?) | ClinVar dbSNP |
| X | g.100408464T>A | CA414011301 | PCDH19 | c.134A>T (p.Asp45Val) | |
| X | g.100408464T>C | CA414011303 | PCDH19 | c.134A>G (p.Asp45Gly) | |
| X | g.100408464T>G | CA414011302 | PCDH19 | c.134A>C (p.Asp45Ala) | |
| X | g.100408465C>A | CA414011304 | PCDH19 | c.133G>T (p.Asp45Tyr) | |
| X | g.100408465C>G | CA414011305 | PCDH19 | c.133G>C (p.Asp45His) | |
| X | g.100408465C>T | CA414011306 | PCDH19 | c.133G>A (p.Asp45Asn) | |
| X | g.100408465_100408466delinsCT | CA2447977161 | PCDH19 | c.132_133delinsAG (p.Lys44=) | |
| X | g.100408466T>A | CA414011307 | PCDH19 | c.132A>T (p.Lys44Asn) | |
| X | g.100408466T>C | CA517748832 | PCDH19 | c.132A>G (p.Lys44=) | |
| X | g.100408466T>G | CA414011308 | PCDH19 | c.132A>C (p.Lys44Asn) | |
| X | g.100408468del | CA915951279 | PCDH19 | c.132del (p.Asp45ThrfsTer27) | ClinVar dbSNP |
| X | g.100408467T>A | CA414011309 | PCDH19 | c.131A>T (p.Lys44Ile) | |
| X | g.100408467T>C | CA414011310 | PCDH19 | c.131A>G (p.Lys44Arg) | |
| X | g.100408467T>G | CA414011311 | PCDH19 | c.131A>C (p.Lys44Thr) | |
| X | g.100408468T>A | CA414011312 | PCDH19 | c.130A>T (p.Lys44Ter) | |
| X | g.100408468T>C | CA414011313 | PCDH19 | c.130A>G (p.Lys44Glu) | |
| X | g.100408468T>G | CA414011314 | PCDH19 | c.130A>C (p.Lys44Gln) | |
| X | g.100408469G>A | CA517748837 | PCDH19 | c.129C>T (p.Ala43=) | |
| X | g.100408469G>C | CA517748838 | PCDH19 | c.129C>G (p.Ala43=) | |
| X | g.100408469G= | CA2447977162 | PCDH19 | c.129C= (p.Ala43=) | |
| X | g.100408469G>T | CA517748839 | PCDH19 | c.129C>A (p.Ala43=) | dbSNP gnomAD v4 |
| X | g.100408470G>A | CA16621151 | PCDH19 | c.128C>T (p.Ala43Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408470G>C | CA414011316 | PCDH19 | c.128C>G (p.Ala43Gly) | |
| X | g.100408470G= | CA2447977163 | PCDH19 | c.128C= (p.Ala43=) | |
| X | g.100408470G>T | CA414011315 | PCDH19 | c.128C>A (p.Ala43Asp) | gnomAD v4 |
| X | g.100408471C>A | CA414011319 | PCDH19 | c.127G>T (p.Ala43Ser) | gnomAD v4 COSMIC |
| X | g.100408471C>G | CA414011317 | PCDH19 | c.127G>C (p.Ala43Pro) | |
| X | g.100408471C>T | CA414011318 | PCDH19 | c.127G>A (p.Ala43Thr) | gnomAD v4 COSMIC |
| X | g.100408472C>A | CA517748848 | PCDH19 | c.126G>T (p.Val42=) | gnomAD v4 |
| X | g.100408472C>G | CA517748846 | PCDH19 | c.126G>C (p.Val42=) | |
| X | g.100408472C>T | CA517748844 | PCDH19 | c.126G>A (p.Val42=) | gnomAD v4 |
| X | g.100408473A>C | CA414011320 | PCDH19 | c.125T>G (p.Val42Gly) | |
| X | g.100408473A>G | CA414011321 | PCDH19 | c.125T>C (p.Val42Ala) | |
| X | g.100408473A>T | CA414011322 | PCDH19 | c.125T>A (p.Val42Glu) | |
| X | g.100408474C>A | CA10469014 | PCDH19 | c.124G>T (p.Val42Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408474C= | CA2447977164 | PCDH19 | c.124G= (p.Val42=) | |
| X | g.100408474C>G | CA414011323 | PCDH19 | c.124G>C (p.Val42Leu) | |
| X | g.100408474C>T | CA414011324 | PCDH19 | c.124G>A (p.Val42Met) | ClinVar dbSNP |
| X | g.100408475G>A | CA517748852 | PCDH19 | c.123C>T (p.Asn41=) | gnomAD v4 |
| X | g.100408475G>C | CA414011325 | PCDH19 | c.123C>G (p.Asn41Lys) | gnomAD v4 |
| X | g.100408475G= | CA2447977165 | PCDH19 | c.123C= (p.Asn41=) | |
| X | g.100408475G>T | CA414011326 | PCDH19 | c.123C>A (p.Asn41Lys) | dbSNP gnomAD v4 |
| X | g.100408476T>A | CA414011327 | PCDH19 | c.122A>T (p.Asn41Ile) | |
| X | g.100408476T>C | CA414011328 | PCDH19 | c.122A>G (p.Asn41Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.100408476T>G | CA414011329 | PCDH19 | c.122A>C (p.Asn41Thr) | |
| X | g.100408477T>A | CA414011332 | PCDH19 | c.121A>T (p.Asn41Tyr) | |
| X | g.100408477T>C | CA414011331 | PCDH19 | c.121A>G (p.Asn41Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408477T>G | CA414011330 | PCDH19 | c.121A>C (p.Asn41His) | |
| X | g.100408477T= | CA2447977166 | PCDH19 | c.121A= (p.Asn41=) | |
| X | g.100408478G>A | CA517748854 | PCDH19 | c.120C>T (p.Ala40=) | gnomAD v4 COSMIC |
| X | g.100408478G>C | CA517748855 | PCDH19 | c.120C>G (p.Ala40=) | |
| X | g.100408478G>T | CA517748856 | PCDH19 | c.120C>A (p.Ala40=) | gnomAD v4 |
| X | g.100408479G>A | CA414011333 | PCDH19 | c.119C>T (p.Ala40Val) | gnomAD v4 |
| X | g.100408479G>C | CA414011334 | PCDH19 | c.119C>G (p.Ala40Gly) | |
| X | g.100408479G>T | CA414011335 | PCDH19 | c.119C>A (p.Ala40Asp) | gnomAD v4 |
| X | g.100408480C>A | CA414011336 | PCDH19 | c.118G>T (p.Ala40Ser) | gnomAD v4 |
| X | g.100408480C>G | CA414011337 | PCDH19 | c.118G>C (p.Ala40Pro) | |
| X | g.100408480C>T | CA414011338 | PCDH19 | c.118G>A (p.Ala40Thr) | gnomAD v4 |
| X | g.100408481A= | CA2447977167 | PCDH19 | c.117T= (p.Ile39=) | |
| X | g.100408481A>C | CA414011339 | PCDH19 | c.117T>G (p.Ile39Met) | |
| X | g.100408481A>G | CA517748858 | PCDH19 | c.117T>C (p.Ile39=) | |
| X | g.100408481A>T | CA10469015 | PCDH19 | c.117T>A (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408482A>C | CA414011340 | PCDH19 | c.116T>G (p.Ile39Ser) | |
| X | g.100408482A>G | CA414011341 | PCDH19 | c.116T>C (p.Ile39Thr) | |
| X | g.100408482A>T | CA414011342 | PCDH19 | c.116T>A (p.Ile39Asn) | |
| X | g.100408483T>A | CA414011343 | PCDH19 | c.115A>T (p.Ile39Phe) | |
| X | g.100408483T>C | CA414011344 | PCDH19 | c.115A>G (p.Ile39Val) | |
| X | g.100408483T>G | CA414011345 | PCDH19 | c.115A>C (p.Ile39Leu) | ClinVar |
| X | g.100408484C>A | CA517748866 | PCDH19 | c.114G>T (p.Val38=) | |
| X | g.100408484C>G | CA517748867 | PCDH19 | c.114G>C (p.Val38=) | |
| X | g.100408484C>T | CA517748868 | PCDH19 | c.114G>A (p.Val38=) | |
| X | g.100408485A>C | CA414011347 | PCDH19 | c.113T>G (p.Val38Gly) | |
| X | g.100408485A>G | CA414011348 | PCDH19 | c.113T>C (p.Val38Ala) | |
| X | g.100408485A>T | CA414011346 | PCDH19 | c.113T>A (p.Val38Glu) | |
| X | g.100408486C>A | CA414011349 | PCDH19 | c.112G>T (p.Val38Leu) | |
| X | g.100408486C>G | CA414011350 | PCDH19 | c.112G>C (p.Val38Leu) | |
| X | g.100408486C>T | CA414011351 | PCDH19 | c.112G>A (p.Val38Met) | gnomAD v4 |
| X | g.100408487C>A | CA517748873 | PCDH19 | c.111G>T (p.Thr37=) | gnomAD v4 |
| X | g.100408487C= | CA2447977168 | PCDH19 | c.111G= (p.Thr37=) | |
| X | g.100408487C>G | CA517748874 | PCDH19 | c.111G>C (p.Thr37=) | gnomAD v4 |
| X | g.100408487C>T | CA517748875 | PCDH19 | c.111G>A (p.Thr37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408488G>A | CA414011352 | PCDH19 | c.110C>T (p.Thr37Met) | gnomAD v4 COSMIC |
| X | g.100408488G>C | CA414011353 | PCDH19 | c.110C>G (p.Thr37Arg) | |
| X | g.100408488G>T | CA414011354 | PCDH19 | c.110C>A (p.Thr37Lys) | gnomAD v4 |
| X | g.100408489T>A | CA414011355 | PCDH19 | c.109A>T (p.Thr37Ser) | |
| X | g.100408489T>C | CA414011356 | PCDH19 | c.109A>G (p.Thr37Ala) | |
| X | g.100408489T>G | CA414011357 | PCDH19 | c.109A>C (p.Thr37Pro) | |
| X | g.100408490C>A | CA517748876 | PCDH19 | c.108G>T (p.Gly36=) | |
| X | g.100408490C= | CA2447977169 | PCDH19 | c.108G= (p.Gly36=) | |
| X | g.100408490C>G | CA517748877 | PCDH19 | c.108G>C (p.Gly36=) | |
| X | g.100408490C>T | CA517748878 | PCDH19 | c.108G>A (p.Gly36=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408491C>A | CA414011358 | PCDH19 | c.107G>T (p.Gly36Val) | |
| X | g.100408491C>G | CA414011359 | PCDH19 | c.107G>C (p.Gly36Ala) | |
| X | g.100408491C>T | CA414011360 | PCDH19 | c.107G>A (p.Gly36Glu) | gnomAD v4 |
| X | g.100408492C>A | CA414011363 | PCDH19 | c.106G>T (p.Gly36Trp) | gnomAD v4 |
| X | g.100408492C= | CA2447977170 | PCDH19 | c.106G= (p.Gly36=) | |
| X | g.100408492C>G | CA414011361 | PCDH19 | c.106G>C (p.Gly36Arg) | gnomAD v4 |
| X | g.100408492C>T | CA414011362 | PCDH19 | c.106G>A (p.Gly36Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408493G>A | CA517748880 | PCDH19 | c.105C>T (p.Ala35=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408493G>C | CA517748883 | PCDH19 | c.105C>G (p.Ala35=) | |
| X | g.100408493G= | CA2447977171 | PCDH19 | c.105C= (p.Ala35=) | |
| X | g.100408493G>T | CA517748882 | PCDH19 | c.105C>A (p.Ala35=) | gnomAD v4 |
| X | g.100408494G>A | CA414011364 | PCDH19 | c.104C>T (p.Ala35Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408494G>C | CA414011365 | PCDH19 | c.104C>G (p.Ala35Gly) | |
| X | g.100408494G= | CA2447977172 | PCDH19 | c.104C= (p.Ala35=) | |
| X | g.100408494G>T | CA414011366 | PCDH19 | c.104C>A (p.Ala35Asp) | gnomAD v4 |
| X | g.100408495C>A | CA414011367 | PCDH19 | c.103G>T (p.Ala35Ser) | |
| X | g.100408495C>G | CA414011368 | PCDH19 | c.103G>C (p.Ala35Pro) | ClinVar dbSNP |
| X | g.100408495C>T | CA414011369 | PCDH19 | c.103G>A (p.Ala35Thr) | gnomAD v4 COSMIC |
| X | g.100408496G>A | CA517748885 | PCDH19 | c.102C>T (p.Arg34=) | |
| X | g.100408496G>C | CA517748886 | PCDH19 | c.102C>G (p.Arg34=) | |
| X | g.100408496G>T | CA517748888 | PCDH19 | c.102C>A (p.Arg34=) | gnomAD v4 |
| X | g.100408498_100408502del | CA2697544635 | PCDH19 | c.98_102del (p.Gln33ArgfsTer?) | ClinVar |
| X | g.100408497C>A | CA414011370 | PCDH19 | c.101G>T (p.Arg34Leu) | |
| X | g.100408497C>G | CA414011371 | PCDH19 | c.101G>C (p.Arg34Pro) | |
| X | g.100408497C>T | CA414011372 | PCDH19 | c.101G>A (p.Arg34His) | |
| X | g.100408498G>A | CA414011373 | PCDH19 | c.100C>T (p.Arg34Cys) | gnomAD v4 |
| X | g.100408498G>C | CA414011374 | PCDH19 | c.100C>G (p.Arg34Gly) | |
| X | g.100408498G>T | CA414011375 | PCDH19 | c.100C>A (p.Arg34Ser) | gnomAD v4 |
| X | g.100408499C>A | CA414011376 | PCDH19 | c.99G>T (p.Gln33His) | dbSNP |
| X | g.100408499C= | CA2447977173 | PCDH19 | c.99G= (p.Gln33=) | |
| X | g.100408499C>G | CA414011377 | PCDH19 | c.99G>C (p.Gln33His) | |
| X | g.100408499C>T | CA517748891 | PCDH19 | c.99G>A (p.Gln33=) | |
| X | g.100408500T>A | CA414011378 | PCDH19 | c.98A>T (p.Gln33Leu) | gnomAD v4 |
| X | g.100408500T>C | CA414011379 | PCDH19 | c.98A>G (p.Gln33Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408500T>G | CA414011380 | PCDH19 | c.98A>C (p.Gln33Pro) | |
| X | g.100408500T= | CA2447977174 | PCDH19 | c.98A= (p.Gln33=) | |
| X | g.100408501G>A | CA414011381 | PCDH19 | c.97C>T (p.Gln33Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.100408501G>C | CA414011382 | PCDH19 | c.97C>G (p.Gln33Glu) | dbSNP |
| X | g.100408501G= | CA2447977175 | PCDH19 | c.97C= (p.Gln33=) | |
| X | g.100408501G>T | CA414011383 | PCDH19 | c.97C>A (p.Gln33Lys) | ClinVar gnomAD v4 |
| X | g.100408502C>A | CA414011384 | PCDH19 | c.96G>T (p.Glu32Asp) | gnomAD v4 |
| X | g.100408502C>G | CA414011385 | PCDH19 | c.96G>C (p.Glu32Asp) | |
| X | g.100408502C>T | CA517748894 | PCDH19 | c.96G>A (p.Glu32=) | gnomAD v4 |
| X | g.100408503T>A | CA414011386 | PCDH19 | c.95A>T (p.Glu32Val) | ClinVar dbSNP |
| X | g.100408503T>C | CA414011387 | PCDH19 | c.95A>G (p.Glu32Gly) | |
| X | g.100408503T>G | CA414011388 | PCDH19 | c.95A>C (p.Glu32Ala) | |
| X | g.100408503_100408506dup | CA2573159034 | PCDH19 | c.92_95dup (p.Gln33GlyfsTer?) | ClinVar dbSNP |
| X | g.100408504C>A | CA414011389 | PCDH19 | c.94G>T (p.Glu32Ter) | |
| X | g.100408504C>G | CA414011390 | PCDH19 | c.94G>C (p.Glu32Gln) | |
| X | g.100408504C>T | CA414011391 | PCDH19 | c.94G>A (p.Glu32Lys) | |
| X | g.100408505C>A | CA414011393 | PCDH19 | c.93G>T (p.Glu31Asp) | gnomAD v4 |
| X | g.100408505C>G | CA414011392 | PCDH19 | c.93G>C (p.Glu31Asp) | |
| X | g.100408505C>T | CA517748895 | PCDH19 | c.93G>A (p.Glu31=) | gnomAD v4 |
| X | g.100408506T>A | CA16621152 | PCDH19 | c.92A>T (p.Glu31Val) | ClinVar dbSNP |
| X | g.100408506T>C | CA414011394 | PCDH19 | c.92A>G (p.Glu31Gly) | |
| X | g.100408506T>G | CA414011395 | PCDH19 | c.92A>C (p.Glu31Ala) | |
| X | g.100408506T= | CA2447977176 | PCDH19 | c.92A= (p.Glu31=) | |
| X | g.100408507C>A | CA316278 | PCDH19 | c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.100408507C= | CA2447977177 | PCDH19 | c.91G= (p.Glu31=) | |
| X | g.100408507C>G | CA414011396 | PCDH19 | c.91G>C (p.Glu31Gln) | |
| X | g.100408507C>T | CA414011397 | PCDH19 | c.91G>A (p.Glu31Lys) | ClinVar dbSNP |
| X | g.100408508T>A | CA414011399 | PCDH19 | c.90A>T (p.Glu30Asp) | |
| X | g.100408508T>C | CA517748898 | PCDH19 | c.90A>G (p.Glu30=) | |
| X | g.100408508T>G | CA414011398 | PCDH19 | c.90A>C (p.Glu30Asp) | |
| X | g.100408509T>A | CA414011400 | PCDH19 | c.89A>T (p.Glu30Val) | |
| X | g.100408509T>C | CA414011401 | PCDH19 | c.89A>G (p.Glu30Gly) | |
| X | g.100408509T>G | CA414011402 | PCDH19 | c.89A>C (p.Glu30Ala) | |
| X | g.100408510C>A | CA414011403 | PCDH19 | c.88G>T (p.Glu30Ter) | gnomAD v4 |
| X | g.100408510C= | CA2447977178 | PCDH19 | c.88G= (p.Glu30=) | |
| X | g.100408510C>G | CA414011404 | PCDH19 | c.88G>C (p.Glu30Gln) | gnomAD v4 |
| X | g.100408510C>T | CA333826111 | PCDH19 | c.88G>A (p.Glu30Lys) | ClinVar dbSNP gnomAD v4 |