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 |
|---|---|---|---|---|---|
| 1 | g.183218394T>A | CA343674973 | LAMC2 | c.409T>A (p.Ser137Thr) | |
| 1 | g.183218394T>C | CA343674974 | LAMC2 | c.409T>C (p.Ser137Pro) | |
| 1 | g.183218394T>G | CA343674979 | LAMC2 | c.409T>G (p.Ser137Ala) | |
| 1 | g.183218395C>A | CA343674982 | LAMC2 | c.410C>A (p.Ser137Tyr) | |
| 1 | g.183218395C>G | CA343674983 | LAMC2 | c.410C>G (p.Ser137Cys) | |
| 1 | g.183218395C>T | CA343674988 | LAMC2 | c.410C>T (p.Ser137Phe) | |
| 1 | g.183218396C>A | CA422114892 | LAMC2 | c.411C>A (p.Ser137=) | |
| 1 | g.183218396C= | CA1211816068 | LAMC2 | c.411C= (p.Ser137=) | |
| 1 | g.183218396C>G | CA422114893 | LAMC2 | c.411C>G (p.Ser137=) | |
| 1 | g.183218396C>T | CA422114895 | LAMC2 | c.411C>T (p.Ser137=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218397A>C | CA343674993 | LAMC2 | c.412A>C (p.Lys138Gln) | |
| 1 | g.183218397A>G | CA343674994 | LAMC2 | c.412A>G (p.Lys138Glu) | |
| 1 | g.183218397A>T | CA343674997 | LAMC2 | c.412A>T (p.Lys138Ter) | |
| 1 | g.183218398A= | CA1211816069 | LAMC2 | c.413A= (p.Lys138=) | |
| 1 | g.183218398A>C | CA343675012 | LAMC2 | c.413A>C (p.Lys138Thr) | |
| 1 | g.183218398A>G | CA343675004 | LAMC2 | c.413A>G (p.Lys138Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218398A>T | CA343675006 | LAMC2 | c.413A>T (p.Lys138Met) | |
| 1 | g.183218399G>A | CA422114904 | LAMC2 | c.414G>A (p.Lys138=) | dbSNP |
| 1 | g.183218399G>C | CA343675017 | LAMC2 | c.414G>C (p.Lys138Asn) | |
| 1 | g.183218399G= | CA1211816070 | LAMC2 | c.414G= (p.Lys138=) | |
| 1 | g.183218399G>T | CA343675022 | LAMC2 | c.414G>T (p.Lys138Asn) | |
| 1 | g.183218400T>A | CA343675040 | LAMC2 | c.415T>A (p.Cys139Ser) | |
| 1 | g.183218400T>C | CA343675047 | LAMC2 | c.415T>C (p.Cys139Arg) | |
| 1 | g.183218400T>G | CA343675050 | LAMC2 | c.415T>G (p.Cys139Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183218400T= | CA1211816071 | LAMC2 | c.415T= (p.Cys139=) | |
| 1 | g.183218401G>A | CA343675069 | LAMC2 | c.416G>A (p.Cys139Tyr) | gnomAD v4 |
| 1 | g.183218401G>C | CA343675098 | LAMC2 | c.416G>C (p.Cys139Ser) | |
| 1 | g.183218401G>T | CA343675105 | LAMC2 | c.416G>T (p.Cys139Phe) | |
| 1 | g.183218402T>A | CA343675112 | LAMC2 | c.417T>A (p.Cys139Ter) | |
| 1 | g.183218402T>C | CA422114908 | LAMC2 | c.417T>C (p.Cys139=) | |
| 1 | g.183218402T>G | CA343675121 | LAMC2 | c.417T>G (p.Cys139Trp) | |
| 1 | g.183218403G>A | CA343675127 | LAMC2 | c.418G>A (p.Asp140Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218403G>C | CA343675128 | LAMC2 | c.418G>C (p.Asp140His) | |
| 1 | g.183218403G= | CA1211816072 | LAMC2 | c.418G= (p.Asp140=) | |
| 1 | g.183218403G>T | CA343675129 | LAMC2 | c.418G>T (p.Asp140Tyr) | gnomAD v4 |
| 1 | g.183218404A>C | CA343675132 | LAMC2 | c.419A>C (p.Asp140Ala) | |
| 1 | g.183218404A>G | CA343675133 | LAMC2 | c.419A>G (p.Asp140Gly) | |
| 1 | g.183218404A>T | CA343675131 | LAMC2 | c.419A>T (p.Asp140Val) | |
| 1 | g.183218405C>A | CA343675140 | LAMC2 | c.420C>A (p.Asp140Glu) | |
| 1 | g.183218405C>G | CA343675146 | LAMC2 | c.420C>G (p.Asp140Glu) | |
| 1 | g.183218405C>T | CA422114917 | LAMC2 | c.420C>T (p.Asp140=) | |
| 1 | g.183218406T>A | CA343675152 | LAMC2 | c.421T>A (p.Cys141Ser) | |
| 1 | g.183218406T>C | CA343675159 | LAMC2 | c.421T>C (p.Cys141Arg) | |
| 1 | g.183218406T>G | CA343675163 | LAMC2 | c.421T>G (p.Cys141Gly) | |
| 1 | g.183218407G>A | CA33964254 | LAMC2 | c.422G>A (p.Cys141Tyr) | dbSNP gnomAD v4 |
| 1 | g.183218407G>C | CA343675165 | LAMC2 | c.422G>C (p.Cys141Ser) | |
| 1 | g.183218407G= | CA1141255376 | LAMC2 | c.422G= (p.Cys141=) | |
| 1 | g.183218407G>T | CA343675167 | LAMC2 | c.422G>T (p.Cys141Phe) | |
| 1 | g.183218408T>A | CA343675169 | LAMC2 | c.423T>A (p.Cys141Ter) | |
| 1 | g.183218408T>C | CA422114929 | LAMC2 | c.423T>C (p.Cys141=) | |
| 1 | g.183218408T>G | CA343675175 | LAMC2 | c.423T>G (p.Cys141Trp) | |
| 1 | g.183218409G>A | CA343675187 | LAMC2 | c.424G>A (p.Asp142Asn) | |
| 1 | g.183218409G>C | CA343675192 | LAMC2 | c.424G>C (p.Asp142His) | gnomAD v4 |
| 1 | g.183218409G>T | CA343675200 | LAMC2 | c.424G>T (p.Asp142Tyr) | gnomAD v4 |
| 1 | g.183218410A>C | CA343675205 | LAMC2 | c.425A>C (p.Asp142Ala) | |
| 1 | g.183218410A>G | CA343675204 | LAMC2 | c.425A>G (p.Asp142Gly) | |
| 1 | g.183218410A>T | CA343675203 | LAMC2 | c.425A>T (p.Asp142Val) | |
| 1 | g.183218411C>A | CA343675212 | LAMC2 | c.426C>A (p.Asp142Glu) | gnomAD v4 |
| 1 | g.183218411C>G | CA343675219 | LAMC2 | c.426C>G (p.Asp142Glu) | |
| 1 | g.183218411C>T | CA422114943 | LAMC2 | c.426C>T (p.Asp142=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.183218412C>A | CA343675225 | LAMC2 | c.427C>A (p.Pro143Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.183218412C= | CA1211816073 | LAMC2 | c.427C= (p.Pro143=) | |
| 1 | g.183218412C>G | CA343675230 | LAMC2 | c.427C>G (p.Pro143Ala) | gnomAD v4 |
| 1 | g.183218412C>T | CA343675235 | LAMC2 | c.427C>T (p.Pro143Ser) | |
| 1 | g.183218413C>A | CA343675236 | LAMC2 | c.428C>A (p.Pro143Gln) | |
| 1 | g.183218413C>G | CA343675237 | LAMC2 | c.428C>G (p.Pro143Arg) | |
| 1 | g.183218413C>T | CA343675238 | LAMC2 | c.428C>T (p.Pro143Leu) | |
| 1 | g.183218414A>C | CA422114946 | LAMC2 | c.429A>C (p.Pro143=) | |
| 1 | g.183218414A>G | CA422114948 | LAMC2 | c.429A>G (p.Pro143=) | |
| 1 | g.183218414A>T | CA422114950 | LAMC2 | c.429A>T (p.Pro143=) | |
| 1 | g.183218415G>A | CA343675241 | LAMC2 | c.430G>A (p.Ala144Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218415G>C | CA1282331 | LAMC2 | c.430G>C (p.Ala144Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183218415G= | CA1143733159 | LAMC2 | c.430G= (p.Ala144=) | |
| 1 | g.183218415G>T | CA343675249 | LAMC2 | c.430G>T (p.Ala144Ser) | |
| 1 | g.183218416C>A | CA343675259 | LAMC2 | c.431C>A (p.Ala144Asp) | dbSNP |
| 1 | g.183218416C= | CA1211816074 | LAMC2 | c.431C= (p.Ala144=) | |
| 1 | g.183218416C>G | CA343675263 | LAMC2 | c.431C>G (p.Ala144Gly) | gnomAD v4 |
| 1 | g.183218416C>T | CA343675267 | LAMC2 | c.431C>T (p.Ala144Val) | |
| 1 | g.183218417T>A | CA422114961 | LAMC2 | c.432T>A (p.Ala144=) | |
| 1 | g.183218417T>C | CA422114963 | LAMC2 | c.432T>C (p.Ala144=) | |
| 1 | g.183218417T>G | CA422114959 | LAMC2 | c.432T>G (p.Ala144=) | |
| 1 | g.183218418G>A | CA343675272 | LAMC2 | c.433G>A (p.Gly145Ser) | ClinVar |
| 1 | g.183218418G>C | CA343675276 | LAMC2 | c.433G>C (p.Gly145Arg) | |
| 1 | g.183218418G>T | CA343675271 | LAMC2 | c.433G>T (p.Gly145Cys) | |
| 1 | g.183218419G>A | CA33964266 | LAMC2 | c.434G>A (p.Gly145Asp) | dbSNP gnomAD v4 |
| 1 | g.183218419G>C | CA343675281 | LAMC2 | c.434G>C (p.Gly145Ala) | |
| 1 | g.183218419G= | CA1211816075 | LAMC2 | c.434G= (p.Gly145=) | |
| 1 | g.183218419G>T | CA343675282 | LAMC2 | c.434G>T (p.Gly145Val) | |
| 1 | g.183218420C>A | CA422114967 | LAMC2 | c.435C>A (p.Gly145=) | |
| 1 | g.183218420C>G | CA422114969 | LAMC2 | c.435C>G (p.Gly145=) | |
| 1 | g.183218420C>T | CA422114971 | LAMC2 | c.435C>T (p.Gly145=) | |
| 1 | g.183218421A= | CA1211816076 | LAMC2 | c.436A= (p.Ile146=) | |
| 1 | g.183218421A>C | CA343675283 | LAMC2 | c.436A>C (p.Ile146Leu) | |
| 1 | g.183218421A>G | CA343675284 | LAMC2 | c.436A>G (p.Ile146Val) | |
| 1 | g.183218421A>T | CA343675285 | LAMC2 | c.436A>T (p.Ile146Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183218422T>A | CA343675286 | LAMC2 | c.437T>A (p.Ile146Asn) | |
| 1 | g.183218422T>C | CA343675290 | LAMC2 | c.437T>C (p.Ile146Thr) | |
| 1 | g.183218422T>G | CA343675294 | LAMC2 | c.437T>G (p.Ile146Ser) | |
| 1 | g.183218423C>A | CA422114987 | LAMC2 | c.438C>A (p.Ile146=) | |
| 1 | g.183218423C= | CA1211816077 | LAMC2 | c.438C= (p.Ile146=) | |
| 1 | g.183218423C>G | CA343675302 | LAMC2 | c.438C>G (p.Ile146Met) | gnomAD v4 |
| 1 | g.183218423C>T | CA1282332 | LAMC2 | c.438C>T (p.Ile146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218424G>A | CA1282333 | LAMC2 | c.439G>A (p.Ala147Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.183218424G>C | CA343675335 | LAMC2 | c.439G>C (p.Ala147Pro) | COSMIC |
| 1 | g.183218424G= | CA1211816078 | LAMC2 | c.439G= (p.Ala147=) | |
| 1 | g.183218424G>T | CA343675330 | LAMC2 | c.439G>T (p.Ala147Ser) | dbSNP |
| 1 | g.183218425C>A | CA343675339 | LAMC2 | c.440C>A (p.Ala147Glu) | |
| 1 | g.183218425C>G | CA343675343 | LAMC2 | c.440C>G (p.Ala147Gly) | |
| 1 | g.183218425C>T | CA343675344 | LAMC2 | c.440C>T (p.Ala147Val) | gnomAD v4 |
| 1 | g.183218426A>C | CA422114993 | LAMC2 | c.441A>C (p.Ala147=) | |
| 1 | g.183218426A>G | CA422114996 | LAMC2 | c.441A>G (p.Ala147=) | |
| 1 | g.183218426A>T | CA422114998 | LAMC2 | c.441A>T (p.Ala147=) | |
| 1 | g.183218426_183218427del | CA2697554737 | LAMC2 | c.441_442del (p.Gly148AlafsTer3) | ClinVar |
| 1 | g.183218427G>A | CA33964278 | LAMC2 | c.442G>A (p.Gly148Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218427G>C | CA343675369 | LAMC2 | c.442G>C (p.Gly148Arg) | |
| 1 | g.183218427G= | CA1211816079 | LAMC2 | c.442G= (p.Gly148=) | |
| 1 | g.183218427G>T | CA343675373 | LAMC2 | c.442G>T (p.Gly148Trp) | |
| 1 | g.183218428G>A | CA343675378 | LAMC2 | c.443G>A (p.Gly148Glu) | |
| 1 | g.183218428G>C | CA343675379 | LAMC2 | c.443G>C (p.Gly148Ala) | |
| 1 | g.183218428G>T | CA343675380 | LAMC2 | c.443G>T (p.Gly148Val) | |
| 1 | g.183218429G>A | CA422115009 | LAMC2 | c.444G>A (p.Gly148=) | |
| 1 | g.183218429G>C | CA422115015 | LAMC2 | c.444G>C (p.Gly148=) | |
| 1 | g.183218429G= | CA1211816080 | LAMC2 | c.444G= (p.Gly148=) | |
| 1 | g.183218429G>T | CA422115011 | LAMC2 | c.444G>T (p.Gly148=) | dbSNP |
| 1 | g.183218430C>A | CA343675384 | LAMC2 | c.445C>A (p.Pro149Thr) | |
| 1 | g.183218430C= | CA1211816081 | LAMC2 | c.445C= (p.Pro149=) | |
| 1 | g.183218430C>G | CA343675385 | LAMC2 | c.445C>G (p.Pro149Ala) | |
| 1 | g.183218430C>T | CA1282334 | LAMC2 | c.445C>T (p.Pro149Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218431C>A | CA343675386 | LAMC2 | c.446C>A (p.Pro149His) | |
| 1 | g.183218431C>G | CA343675390 | LAMC2 | c.446C>G (p.Pro149Arg) | |
| 1 | g.183218431C>T | CA343675388 | LAMC2 | c.446C>T (p.Pro149Leu) | |
| 1 | g.183218432C>A | CA422115027 | LAMC2 | c.447C>A (p.Pro149=) | |
| 1 | g.183218432C= | CA1211816082 | LAMC2 | c.447C= (p.Pro149=) | |
| 1 | g.183218432C>G | CA422115029 | LAMC2 | c.447C>G (p.Pro149=) | dbSNP COSMIC |
| 1 | g.183218432C>T | CA1282335 | LAMC2 | c.447C>T (p.Pro149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218433T>A | CA343675406 | LAMC2 | c.448T>A (p.Cys150Ser) | |
| 1 | g.183218433T>C | CA343675401 | LAMC2 | c.448T>C (p.Cys150Arg) | |
| 1 | g.183218433T>G | CA343675415 | LAMC2 | c.448T>G (p.Cys150Gly) | |
| 1 | g.183218434G>A | CA343675421 | LAMC2 | c.449G>A (p.Cys150Tyr) | |
| 1 | g.183218434G>C | CA343675423 | LAMC2 | c.449G>C (p.Cys150Ser) | gnomAD v4 |
| 1 | g.183218434G>T | CA343675422 | LAMC2 | c.449G>T (p.Cys150Phe) | |
| 1 | g.183218435T>A | CA343675425 | LAMC2 | c.450T>A (p.Cys150Ter) | |
| 1 | g.183218435T>C | CA422115041 | LAMC2 | c.450T>C (p.Cys150=) | |
| 1 | g.183218435T>G | CA343675432 | LAMC2 | c.450T>G (p.Cys150Trp) | |
| 1 | g.183218436G>A | CA343675435 | LAMC2 | c.451G>A (p.Asp151Asn) | |
| 1 | g.183218436G>C | CA343675437 | LAMC2 | c.451G>C (p.Asp151His) | |
| 1 | g.183218436G>T | CA343675438 | LAMC2 | c.451G>T (p.Asp151Tyr) | |
| 1 | g.183218437A>C | CA343675439 | LAMC2 | c.452A>C (p.Asp151Ala) | |
| 1 | g.183218437A>G | CA343675440 | LAMC2 | c.452A>G (p.Asp151Gly) | |
| 1 | g.183218437A>T | CA343675441 | LAMC2 | c.452A>T (p.Asp151Val) | |
| 1 | g.183218438C>A | CA343675444 | LAMC2 | c.453C>A (p.Asp151Glu) | |
| 1 | g.183218438C= | CA1211816083 | LAMC2 | c.453C= (p.Asp151=) | |
| 1 | g.183218438C>G | CA343675446 | LAMC2 | c.453C>G (p.Asp151Glu) | |
| 1 | g.183218438C>T | CA1282336 | LAMC2 | c.453C>T (p.Asp151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218439G>A | CA1282337 | LAMC2 | c.454G>A (p.Ala152Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218439G>C | CA343675459 | LAMC2 | c.454G>C (p.Ala152Pro) | |
| 1 | g.183218439G= | CA1143645211 | LAMC2 | c.454G= (p.Ala152=) | |
| 1 | g.183218439G>T | CA343675462 | LAMC2 | c.454G>T (p.Ala152Ser) | |
| 1 | g.183218440C>A | CA343675466 | LAMC2 | c.455C>A (p.Ala152Glu) | |
| 1 | g.183218440C= | CA1143406978 | LAMC2 | c.455C= (p.Ala152=) | |
| 1 | g.183218440C>G | CA343675468 | LAMC2 | c.455C>G (p.Ala152Gly) | |
| 1 | g.183218440C>T | CA1282338 | LAMC2 | c.455C>T (p.Ala152Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218441G>A | CA422115061 | LAMC2 | c.456G>A (p.Ala152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218441G>C | CA33964332 | LAMC2 | c.456G>C (p.Ala152=) | ClinVar dbSNP |
| 1 | g.183218441G= | CA1211816084 | LAMC2 | c.456G= (p.Ala152=) | |
| 1 | g.183218441G>T | CA422115064 | LAMC2 | c.456G>T (p.Ala152=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218442G>A | CA343675471 | LAMC2 | c.457G>A (p.Gly153Ser) | |
| 1 | g.183218442G>C | CA343675479 | LAMC2 | c.457G>C (p.Gly153Arg) | |
| 1 | g.183218442G>T | CA343675480 | LAMC2 | c.457G>T (p.Gly153Cys) | gnomAD v4 |
| 1 | g.183218443G>A | CA343675482 | LAMC2 | c.458G>A (p.Gly153Asp) | |
| 1 | g.183218443G>C | CA343675487 | LAMC2 | c.458G>C (p.Gly153Ala) | |
| 1 | g.183218443G= | CA1211816085 | LAMC2 | c.458G= (p.Gly153=) | |
| 1 | g.183218443G>T | CA33964336 | LAMC2 | c.458G>T (p.Gly153Val) | dbSNP |
| 1 | g.183218444C>A | CA422115076 | LAMC2 | c.459C>A (p.Gly153=) | |
| 1 | g.183218444C>G | CA422115080 | LAMC2 | c.459C>G (p.Gly153=) | |
| 1 | g.183218444C>T | CA422115082 | LAMC2 | c.459C>T (p.Gly153=) | |
| 1 | g.183218445C>A | CA343675505 | LAMC2 | c.460C>A (p.Arg154Ser) | |
| 1 | g.183218445C= | CA1144873122 | LAMC2 | c.460C= (p.Arg154=) | |
| 1 | g.183218445C>G | CA343675508 | LAMC2 | c.460C>G (p.Arg154Gly) | |
| 1 | g.183218445C>T | CA1282339 | LAMC2 | c.460C>T (p.Arg154Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218446G>A | CA1282340 | LAMC2 | c.461G>A (p.Arg154His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183218446G>C | CA343675511 | LAMC2 | c.461G>C (p.Arg154Pro) | |
| 1 | g.183218446G= | CA1211816086 | LAMC2 | c.461G= (p.Arg154=) | |
| 1 | g.183218446G>T | CA343675509 | LAMC2 | c.461G>T (p.Arg154Leu) | dbSNP gnomAD v2 |
| 1 | g.183218447C>A | CA422115092 | LAMC2 | c.462C>A (p.Arg154=) | |
| 1 | g.183218447C>G | CA422115093 | LAMC2 | c.462C>G (p.Arg154=) | |
| 1 | g.183218447C>T | CA422115094 | LAMC2 | c.462C>T (p.Arg154=) | |
| 1 | g.183218448T>A | CA343675516 | LAMC2 | c.463T>A (p.Cys155Ser) | |
| 1 | g.183218448T>C | CA343675517 | LAMC2 | c.463T>C (p.Cys155Arg) | |
| 1 | g.183218448T>G | CA343675521 | LAMC2 | c.463T>G (p.Cys155Gly) | |
| 1 | g.183218449G>A | CA343675528 | LAMC2 | c.464G>A (p.Cys155Tyr) | |
| 1 | g.183218449G>C | CA343675530 | LAMC2 | c.464G>C (p.Cys155Ser) | gnomAD v4 |
| 1 | g.183218449G>T | CA343675533 | LAMC2 | c.464G>T (p.Cys155Phe) | |
| 1 | g.183218450T>A | CA343675535 | LAMC2 | c.465T>A (p.Cys155Ter) | |
| 1 | g.183218450T>C | CA422115107 | LAMC2 | c.465T>C (p.Cys155=) | |
| 1 | g.183218450T>G | CA343675539 | LAMC2 | c.465T>G (p.Cys155Trp) | |
| 1 | g.183218451G>A | CA343675543 | LAMC2 | c.466G>A (p.Val156Ile) | gnomAD v4 |
| 1 | g.183218451G>C | CA343675544 | LAMC2 | c.466G>C (p.Val156Leu) | |
| 1 | g.183218451G>T | CA343675546 | LAMC2 | c.466G>T (p.Val156Phe) | |
| 1 | g.183218452T>A | CA343675550 | LAMC2 | c.467T>A (p.Val156Asp) | |
| 1 | g.183218452T>C | CA33964352 | LAMC2 | c.467T>C (p.Val156Ala) | dbSNP |
| 1 | g.183218452T>G | CA343675548 | LAMC2 | c.467T>G (p.Val156Gly) | |
| 1 | g.183218452T= | CA1211816087 | LAMC2 | c.467T= (p.Val156=) | |
| 1 | g.183218453C>A | CA422115116 | LAMC2 | c.468C>A (p.Val156=) | |
| 1 | g.183218453C>G | CA422115118 | LAMC2 | c.468C>G (p.Val156=) | |
| 1 | g.183218453C>T | CA422115120 | LAMC2 | c.468C>T (p.Val156=) | |
| 1 | g.183218454T>A | CA343675563 | LAMC2 | c.469T>A (p.Cys157Ser) | |
| 1 | g.183218454T>C | CA343675565 | LAMC2 | c.469T>C (p.Cys157Arg) | |
| 1 | g.183218454T>G | CA343675567 | LAMC2 | c.469T>G (p.Cys157Gly) | |
| 1 | g.183218455G>A | CA343675570 | LAMC2 | c.470G>A (p.Cys157Tyr) | |
| 1 | g.183218455G>C | CA343675575 | LAMC2 | c.470G>C (p.Cys157Ser) | |
| 1 | g.183218455G>T | CA343675577 | LAMC2 | c.470G>T (p.Cys157Phe) | |
| 1 | g.183218456C>A | CA343675583 | LAMC2 | c.471C>A (p.Cys157Ter) | gnomAD v4 |
| 1 | g.183218456C>G | CA343675585 | LAMC2 | c.471C>G (p.Cys157Trp) | |
| 1 | g.183218456C>T | CA422115131 | LAMC2 | c.471C>T (p.Cys157=) | |
| 1 | g.183218457A>C | CA343675587 | LAMC2 | c.472A>C (p.Lys158Gln) | |
| 1 | g.183218457A>G | CA343675589 | LAMC2 | c.472A>G (p.Lys158Glu) | |
| 1 | g.183218457A>T | CA343675591 | LAMC2 | c.472A>T (p.Lys158Ter) | |
| 1 | g.183218458A>C | CA343675597 | LAMC2 | c.473A>C (p.Lys158Thr) | |
| 1 | g.183218458A>G | CA343675601 | LAMC2 | c.473A>G (p.Lys158Arg) | |
| 1 | g.183218458A>T | CA343675604 | LAMC2 | c.473A>T (p.Lys158Met) | |
| 1 | g.183218459G>A | CA422115140 | LAMC2 | c.474G>A (p.Lys158=) | |
| 1 | g.183218459G>C | CA343675614 | LAMC2 | c.474G>C (p.Lys158Asn) | |
| 1 | g.183218459G>T | CA343675612 | LAMC2 | c.474G>T (p.Lys158Asn) | |
| 1 | g.183218460C>A | CA1282341 | LAMC2 | c.475C>A (p.Pro159Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183218460C= | CA1148273690 | LAMC2 | c.475C= (p.Pro159=) | |
| 1 | g.183218460C>G | CA343675621 | LAMC2 | c.475C>G (p.Pro159Ala) | |
| 1 | g.183218460C>T | CA343675619 | LAMC2 | c.475C>T (p.Pro159Ser) | |
| 1 | g.183218461C>A | CA343675624 | LAMC2 | c.476C>A (p.Pro159Gln) | |
| 1 | g.183218461C>G | CA343675626 | LAMC2 | c.476C>G (p.Pro159Arg) | |
| 1 | g.183218461C>T | CA343675628 | LAMC2 | c.476C>T (p.Pro159Leu) | |
| 1 | g.183218462A>C | CA422115148 | LAMC2 | c.477A>C (p.Pro159=) | |
| 1 | g.183218462A>G | CA422115149 | LAMC2 | c.477A>G (p.Pro159=) | |
| 1 | g.183218462A>T | CA422115151 | LAMC2 | c.477A>T (p.Pro159=) | |
| 1 | g.183218463G>A | CA343675632 | LAMC2 | c.478G>A (p.Ala160Thr) | |
| 1 | g.183218463G>C | CA343675638 | LAMC2 | c.478G>C (p.Ala160Pro) | |
| 1 | g.183218463G>T | CA343675641 | LAMC2 | c.478G>T (p.Ala160Ser) | |
| 1 | g.183218464C>A | CA343675642 | LAMC2 | c.479C>A (p.Ala160Asp) | |
| 1 | g.183218464C>G | CA343675643 | LAMC2 | c.479C>G (p.Ala160Gly) | |
| 1 | g.183218464C>T | CA343675644 | LAMC2 | c.479C>T (p.Ala160Val) | |
| 1 | g.183218465T>A | CA422115157 | LAMC2 | c.480T>A (p.Ala160=) | |
| 1 | g.183218465T>C | CA422115160 | LAMC2 | c.480T>C (p.Ala160=) | |
| 1 | g.183218465T>G | CA422115162 | LAMC2 | c.480T>G (p.Ala160=) | |
| 1 | g.183218466G>A | CA343675647 | LAMC2 | c.481G>A (p.Val161Ile) | |
| 1 | g.183218466G>C | CA343675657 | LAMC2 | c.481G>C (p.Val161Leu) | |
| 1 | g.183218466G>T | CA343675660 | LAMC2 | c.481G>T (p.Val161Phe) | gnomAD v4 |
| 1 | g.183218467T>A | CA343675664 | LAMC2 | c.482T>A (p.Val161Asp) | |
| 1 | g.183218467T>C | CA343675667 | LAMC2 | c.482T>C (p.Val161Ala) | |
| 1 | g.183218467T>G | CA343675665 | LAMC2 | c.482T>G (p.Val161Gly) | |
| 1 | g.183218468C>A | CA422115170 | LAMC2 | c.483C>A (p.Val161=) | |
| 1 | g.183218468C= | CA1139853433 | LAMC2 | c.483C= (p.Val161=) | |
| 1 | g.183218468C>G | CA422115172 | LAMC2 | c.483C>G (p.Val161=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183218468C>T | CA1282342 | LAMC2 | c.483C>T (p.Val161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218469A= | CA1211816088 | LAMC2 | c.484A= (p.Thr162=) | |
| 1 | g.183218469A>C | CA343675673 | LAMC2 | c.484A>C (p.Thr162Pro) | |
| 1 | g.183218469A>G | CA343675674 | LAMC2 | c.484A>G (p.Thr162Ala) | dbSNP |
| 1 | g.183218469A>T | CA343675675 | LAMC2 | c.484A>T (p.Thr162Ser) | |
| 1 | g.183218470C>A | CA343675676 | LAMC2 | c.485C>A (p.Thr162Asn) | |
| 1 | g.183218470C>G | CA343675679 | LAMC2 | c.485C>G (p.Thr162Ser) | |
| 1 | g.183218470C>T | CA343675682 | LAMC2 | c.485C>T (p.Thr162Ile) | |
| 1 | g.183218471T>A | CA422115180 | LAMC2 | c.486T>A (p.Thr162=) | |
| 1 | g.183218471T>C | CA422115182 | LAMC2 | c.486T>C (p.Thr162=) | ClinVar gnomAD v4 |
| 1 | g.183218471T>G | CA422115184 | LAMC2 | c.486T>G (p.Thr162=) | |
| 1 | g.183218472G>A | CA343675686 | LAMC2 | c.487G>A (p.Gly163Arg) | |
| 1 | g.183218472G>C | CA343675687 | LAMC2 | c.487G>C (p.Gly163Arg) | |
| 1 | g.183218472G>T | CA343675688 | LAMC2 | c.487G>T (p.Gly163Ter) | |
| 1 | g.183218473G>A | CA343675693 | LAMC2 | c.488G>A (p.Gly163Glu) | |
| 1 | g.183218473G>C | CA343675704 | LAMC2 | c.488G>C (p.Gly163Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.183218473G= | CA1211816089 | LAMC2 | c.488G= (p.Gly163=) | |
| 1 | g.183218473G>T | CA343675691 | LAMC2 | c.488G>T (p.Gly163Val) | |
| 1 | g.183218474A>C | CA422115194 | LAMC2 | c.489A>C (p.Gly163=) | gnomAD v4 |
| 1 | g.183218474A>G | CA422115195 | LAMC2 | c.489A>G (p.Gly163=) | |
| 1 | g.183218474A>T | CA422115197 | LAMC2 | c.489A>T (p.Gly163=) | |
| 1 | g.183218475G>A | CA33964390 | LAMC2 | c.490G>A (p.Glu164Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218475G>C | CA343675711 | LAMC2 | c.490G>C (p.Glu164Gln) | |
| 1 | g.183218475G= | CA1211816090 | LAMC2 | c.490G= (p.Glu164=) | |
| 1 | g.183218475G>T | CA343675716 | LAMC2 | c.490G>T (p.Glu164Ter) | |
| 1 | g.183218476A>C | CA343675721 | LAMC2 | c.491A>C (p.Glu164Ala) | |
| 1 | g.183218476A>G | CA343675726 | LAMC2 | c.491A>G (p.Glu164Gly) | |
| 1 | g.183218476A>T | CA343675731 | LAMC2 | c.491A>T (p.Glu164Val) | |
| 1 | g.183218477A>C | CA343675738 | LAMC2 | c.492A>C (p.Glu164Asp) | |
| 1 | g.183218477A>G | CA422115206 | LAMC2 | c.492A>G (p.Glu164=) | |
| 1 | g.183218477A>T | CA343675739 | LAMC2 | c.492A>T (p.Glu164Asp) | |
| 1 | g.183218478C>A | CA343675740 | LAMC2 | c.493C>A (p.Arg165Ser) | |
| 1 | g.183218478C= | CA1141861012 | LAMC2 | c.493C= (p.Arg165=) | |
| 1 | g.183218478C>G | CA343675741 | LAMC2 | c.493C>G (p.Arg165Gly) | |
| 1 | g.183218478C>T | CA1282343 | LAMC2 | c.493C>T (p.Arg165Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.183218479G>A | CA1282344 | LAMC2 | c.494G>A (p.Arg165His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218479G>C | CA343675749 | LAMC2 | c.494G>C (p.Arg165Pro) | |
| 1 | g.183218479G= | CA1211816091 | LAMC2 | c.494G= (p.Arg165=) | |
| 1 | g.183218479G>T | CA343675751 | LAMC2 | c.494G>T (p.Arg165Leu) | |
| 1 | g.183218480C>A | CA422115215 | LAMC2 | c.495C>A (p.Arg165=) | |
| 1 | g.183218480C= | CA1211816092 | LAMC2 | c.495C= (p.Arg165=) | |
| 1 | g.183218480C>G | CA422115216 | LAMC2 | c.495C>G (p.Arg165=) | |
| 1 | g.183218480C>T | CA1282345 | LAMC2 | c.495C>T (p.Arg165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.183218481T>A | CA343675756 | LAMC2 | c.496T>A (p.Cys166Ser) | |
| 1 | g.183218481T>C | CA343675761 | LAMC2 | c.496T>C (p.Cys166Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218481T>G | CA343675765 | LAMC2 | c.496T>G (p.Cys166Gly) | |
| 1 | g.183218481T= | CA1211816093 | LAMC2 | c.496T= (p.Cys166=) | |
| 1 | g.183218483_183218484del | CA2649463773 | LAMC2 | c.498_499del (p.Cys166Ter) | gnomAD v4 |
| 1 | g.183218482_183218486dup | CA2573963010 | LAMC2 | c.497_501dup (p.Arg168ValfsTer?) | ClinVar |
| 1 | g.183218482G>A | CA343675769 | LAMC2 | c.497G>A (p.Cys166Tyr) | gnomAD v4 |
| 1 | g.183218482G>C | CA343675772 | LAMC2 | c.497G>C (p.Cys166Ser) | |
| 1 | g.183218482G>T | CA343675775 | LAMC2 | c.497G>T (p.Cys166Phe) | |
| 1 | g.183218483T>A | CA343675778 | LAMC2 | c.498T>A (p.Cys166Ter) | |
| 1 | g.183218483T>C | CA422115228 | LAMC2 | c.498T>C (p.Cys166=) | dbSNP |
| 1 | g.183218483T>G | CA343675780 | LAMC2 | c.498T>G (p.Cys166Trp) | |
| 1 | g.183218483T= | CA1211816094 | LAMC2 | c.498T= (p.Cys166=) | |
| 1 | g.183218484G>A | CA343675784 | LAMC2 | c.499G>A (p.Asp167Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183218484G>C | CA343675786 | LAMC2 | c.499G>C (p.Asp167His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218484G= | CA1211816095 | LAMC2 | c.499G= (p.Asp167=) | |
| 1 | g.183218484G>T | CA343675788 | LAMC2 | c.499G>T (p.Asp167Tyr) | dbSNP gnomAD v2 |
| 1 | g.183218485A= | CA1211816096 | LAMC2 | c.500A= (p.Asp167=) | |
| 1 | g.183218485A>C | CA343675793 | LAMC2 | c.500A>C (p.Asp167Ala) | |
| 1 | g.183218485A>G | CA343675817 | LAMC2 | c.500A>G (p.Asp167Gly) | |
| 1 | g.183218485A>T | CA343675821 | LAMC2 | c.500A>T (p.Asp167Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.183218486T>A | CA343675831 | LAMC2 | c.501T>A (p.Asp167Glu) | |
| 1 | g.183218486T>C | CA422115236 | LAMC2 | c.501T>C (p.Asp167=) | gnomAD v4 |
| 1 | g.183218486T>G | CA343675826 | LAMC2 | c.501T>G (p.Asp167Glu) | |
| 1 | g.183218487A= | CA1211816097 | LAMC2 | c.502A= (p.Arg168=) | |
| 1 | g.183218487A>C | CA422115240 | LAMC2 | c.502A>C (p.Arg168=) | |
| 1 | g.183218487A>G | CA343675836 | LAMC2 | c.502A>G (p.Arg168Gly) | dbSNP |
| 1 | g.183218487A>T | CA343675840 | LAMC2 | c.502A>T (p.Arg168Trp) | |
| 1 | g.183218488G>A | CA343675841 | LAMC2 | c.503G>A (p.Arg168Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.183218488G>C | CA343675846 | LAMC2 | c.503G>C (p.Arg168Thr) | |
| 1 | g.183218488G= | CA1211816098 | LAMC2 | c.503G= (p.Arg168=) | |
| 1 | g.183218488G>T | CA343675843 | LAMC2 | c.503G>T (p.Arg168Met) | |
| 1 | g.183218489G>A | CA343675851 | LAMC2 | c.503+1G>A (n.503+1G>A) | |
| 1 | g.183218489G>C | CA16040676 | LAMC2 | c.503+1G>C (n.503+1G>C) | ClinVar dbSNP |
| 1 | g.183218489G= | CA1211816099 | LAMC2 | c.503+1G= (n.503+1G=) | |
| 1 | g.183218489G>T | CA343675856 | LAMC2 | c.503+1G>T (n.503+1G>T) | |
| 1 | g.183218490T>A | CA343675858 | LAMC2 | c.503+2T>A (n.503+2T>A) | |
| 1 | g.183218490T>C | CA343675859 | LAMC2 | c.503+2T>C (n.503+2T>C) | |
| 1 | g.183218490T>G | CA343675866 | LAMC2 | c.503+2T>G (n.503+2T>G) | |
| 1 | g.183218490_183218491insGTCGATCAGGTTACTATAAT | CA2697682863 | LAMC2 | c.503+2_503+3insGTCGATCAGGTTACTATAAT (n.503+2_503+3insGTCGATCAGGTTACTATAAT) | dbSNP |
| 1 | g.183218491C>A | CA2649463774 | LAMC2 | c.503+3C>A (n.503+3C>A) | gnomAD v4 |
| 1 | g.183218491C= | CA1211816100 | LAMC2 | c.503+3C= (n.503+3C=) | |
| 1 | g.183218491C>T | CA1211816101 | LAMC2 | c.503+3C>T (n.503+3C>T) | dbSNP gnomAD v4 |
| 1 | g.183218492T>C | CA2649463776 | LAMC2 | c.503+4T>C (n.503+4T>C) | gnomAD v4 |
| 1 | g.183218496_183218497del | CA2649463775 | LAMC2 | c.503+8_503+9del (n.503+8_503+9del) | gnomAD v4 |
| 1 | g.183218493G>A | CA2649463777 | LAMC2 | c.503+5G>A (n.503+5G>A) | gnomAD v4 |
| 1 | g.183218494T>A | CA2746913265 | LAMC2 | c.503+6T>A (n.503+6T>A) | |
| 1 | g.183218494T>C | CA1282346 | LAMC2 | c.503+6T>C (n.503+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.183218494T>G | CA2697523370 | LAMC2 | c.503+6T>G (n.503+6T>G) | dbSNP |
| 1 | g.183218494T= | CA1144072814 | LAMC2 | c.503+6T= (n.503+6T=) |