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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.183152370C>A | CA2668720111 | LAMP3 | c.888+5G>T (n.888+5G>T) c.816+5G>T (n.816+5G>T) n.948+5G>T | gnomAD v4 |
| 3 | g.183152371_183152374dup | CA2668720110 | LAMP3 | c.888+2_888+5dup (n.888+2_888+5dup) c.816+2_816+5dup (n.816+2_816+5dup) n.948+2_948+5dup | gnomAD v4 |
| 3 | g.183152371T>A | CA2719416 | LAMP3 | c.888+4A>T (n.888+4A>T) c.816+4A>T (n.816+4A>T) n.948+4A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152371T= | CA1425434252 | LAMP3 | c.888+4A= (n.888+4A=) c.816+4A= (n.816+4A=) n.948+4A= | |
| 3 | g.183152372C= | CA1425434253 | LAMP3 | c.888+3G= (n.888+3G=) c.816+3G= (n.816+3G=) n.948+3G= | |
| 3 | g.183152372C>T | CA548353056 | LAMP3 | c.888+3G>A (n.888+3G>A) c.816+3G>A (n.816+3G>A) n.948+3G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152373A>C | CA355321263 | LAMP3 | c.888+2T>G (n.888+2T>G) c.816+2T>G (n.816+2T>G) n.948+2T>G | gnomAD v4 |
| 3 | g.183152373A>G | CA355321264 | LAMP3 | c.888+2T>C (n.888+2T>C) c.816+2T>C (n.816+2T>C) n.948+2T>C | |
| 3 | g.183152373A>T | CA355321265 | LAMP3 | c.888+2T>A (n.888+2T>A) c.816+2T>A (n.816+2T>A) n.948+2T>A | |
| 3 | g.183152374C>A | CA355321266 | LAMP3 | c.888+1G>T (n.888+1G>T) c.816+1G>T (n.816+1G>T) n.948+1G>T | |
| 3 | g.183152374C>G | CA355321267 | LAMP3 | c.888+1G>C (n.888+1G>C) c.816+1G>C (n.816+1G>C) n.948+1G>C | gnomAD v4 |
| 3 | g.183152374C>T | CA355321268 | LAMP3 | c.888+1G>A (n.888+1G>A) c.816+1G>A (n.816+1G>A) n.948+1G>A | |
| 3 | g.183152375C>A | CA355321270 | LAMP3 | c.888G>T (p.Lys296Asn) c.816G>T (p.Lys272Asn) n.948G>T | |
| 3 | g.183152375C= | CA1425434254 | LAMP3 | c.888G= (p.Lys296=) c.816G= (p.Lys272=) n.948G= | |
| 3 | g.183152375C>G | CA355321269 | LAMP3 | c.888G>C (p.Lys296Asn) c.816G>C (p.Lys272Asn) n.948G>C | dbSNP gnomAD v4 |
| 3 | g.183152375C>T | CA437096160 | LAMP3 | c.888G>A (p.Lys296=) c.816G>A (p.Lys272=) n.948G>A | dbSNP |
| 3 | g.183152376T>A | CA355321271 | LAMP3 | c.887A>T (p.Lys296Met) c.815A>T (p.Lys272Met) n.947A>T | |
| 3 | g.183152376T>C | CA355321272 | LAMP3 | c.887A>G (p.Lys296Arg) c.815A>G (p.Lys272Arg) n.947A>G | |
| 3 | g.183152376T>G | CA355321273 | LAMP3 | c.887A>C (p.Lys296Thr) c.815A>C (p.Lys272Thr) n.947A>C | |
| 3 | g.183152377T>A | CA355321274 | LAMP3 | c.886A>T (p.Lys296Ter) c.814A>T (p.Lys272Ter) n.946A>T | |
| 3 | g.183152377T>C | CA355321275 | LAMP3 | c.886A>G (p.Lys296Glu) c.814A>G (p.Lys272Glu) n.946A>G | |
| 3 | g.183152377T>G | CA355321276 | LAMP3 | c.886A>C (p.Lys296Gln) c.814A>C (p.Lys272Gln) n.946A>C | gnomAD v4 |
| 3 | g.183152378G>A | CA437096161 | LAMP3 | c.885C>T (p.Thr295=) c.813C>T (p.Thr271=) n.945C>T | |
| 3 | g.183152378G>C | CA437096162 | LAMP3 | c.885C>G (p.Thr295=) c.813C>G (p.Thr271=) n.945C>G | |
| 3 | g.183152378G>T | CA437096163 | LAMP3 | c.885C>A (p.Thr295=) c.813C>A (p.Thr271=) n.945C>A | |
| 3 | g.183152379G>A | CA355321279 | LAMP3 | c.884C>T (p.Thr295Ile) c.812C>T (p.Thr271Ile) n.944C>T | |
| 3 | g.183152379G>C | CA355321277 | LAMP3 | c.884C>G (p.Thr295Ser) c.812C>G (p.Thr271Ser) n.944C>G | |
| 3 | g.183152379G>T | CA355321278 | LAMP3 | c.884C>A (p.Thr295Asn) c.812C>A (p.Thr271Asn) n.944C>A | gnomAD v4 |
| 3 | g.183152380T>A | CA2719417 | LAMP3 | c.883A>T (p.Thr295Ser) c.811A>T (p.Thr271Ser) n.943A>T | dbSNP ExAC gnomAD v2 |
| 3 | g.183152380T>C | CA355321280 | LAMP3 | c.883A>G (p.Thr295Ala) c.811A>G (p.Thr271Ala) n.943A>G | |
| 3 | g.183152380T>G | CA355321281 | LAMP3 | c.883A>C (p.Thr295Pro) c.811A>C (p.Thr271Pro) n.943A>C | |
| 3 | g.183152380T= | CA1425434255 | LAMP3 | c.883A= (p.Thr295=) c.811A= (p.Thr271=) n.943A= | |
| 3 | g.183152381A>C | CA355321282 | LAMP3 | c.882T>G (p.Phe294Leu) c.810T>G (p.Phe270Leu) n.942T>G | |
| 3 | g.183152381A>G | CA437096167 | LAMP3 | c.882T>C (p.Phe294=) c.810T>C (p.Phe270=) n.942T>C | gnomAD v4 |
| 3 | g.183152381A>T | CA355321283 | LAMP3 | c.882T>A (p.Phe294Leu) c.810T>A (p.Phe270Leu) n.942T>A | |
| 3 | g.183152382A>C | CA355321286 | LAMP3 | c.881T>G (p.Phe294Cys) c.809T>G (p.Phe270Cys) n.941T>G | |
| 3 | g.183152382A>G | CA355321284 | LAMP3 | c.881T>C (p.Phe294Ser) c.809T>C (p.Phe270Ser) n.941T>C | |
| 3 | g.183152382A>T | CA355321285 | LAMP3 | c.881T>A (p.Phe294Tyr) c.809T>A (p.Phe270Tyr) n.941T>A | |
| 3 | g.183152383A>C | CA355321287 | LAMP3 | c.880T>G (p.Phe294Val) c.808T>G (p.Phe270Val) n.940T>G | |
| 3 | g.183152383A>G | CA355321288 | LAMP3 | c.880T>C (p.Phe294Leu) c.808T>C (p.Phe270Leu) n.940T>C | |
| 3 | g.183152383A>T | CA355321289 | LAMP3 | c.880T>A (p.Phe294Ile) c.808T>A (p.Phe270Ile) n.940T>A | |
| 3 | g.183152384T>A | CA437096175 | LAMP3 | c.879A>T (p.Thr293=) c.807A>T (p.Thr269=) n.939A>T | |
| 3 | g.183152384T>C | CA437096177 | LAMP3 | c.879A>G (p.Thr293=) c.807A>G (p.Thr269=) n.939A>G | gnomAD v4 |
| 3 | g.183152384T>G | CA437096179 | LAMP3 | c.879A>C (p.Thr293=) c.807A>C (p.Thr269=) n.939A>C | |
| 3 | g.183152385G>A | CA355321290 | LAMP3 | c.878C>T (p.Thr293Ile) c.806C>T (p.Thr269Ile) n.938C>T | |
| 3 | g.183152385G>C | CA355321291 | LAMP3 | c.878C>G (p.Thr293Arg) c.806C>G (p.Thr269Arg) n.938C>G | |
| 3 | g.183152385G= | CA1425434256 | LAMP3 | c.878C= (p.Thr293=) c.806C= (p.Thr269=) n.938C= | |
| 3 | g.183152385G>T | CA355321292 | LAMP3 | c.878C>A (p.Thr293Lys) c.806C>A (p.Thr269Lys) n.938C>A | |
| 3 | g.183152386T>A | CA355321293 | LAMP3 | c.877A>T (p.Thr293Ser) c.805A>T (p.Thr269Ser) n.937A>T | |
| 3 | g.183152386T>C | CA355321294 | LAMP3 | c.877A>G (p.Thr293Ala) c.805A>G (p.Thr269Ala) n.937A>G | |
| 3 | g.183152386T>G | CA355321295 | LAMP3 | c.877A>C (p.Thr293Pro) c.805A>C (p.Thr269Pro) n.937A>C | gnomAD v4 |
| 3 | g.183152386dup | CA2719418 | LAMP3 | c.877dup (p.Thr293AsnfsTer6) c.805dup (p.Thr269AsnfsTer6) n.937dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152387G>A | CA437096183 | LAMP3 | c.876C>T (p.Leu292=) c.804C>T (p.Leu268=) n.936C>T | |
| 3 | g.183152387G>C | CA437096181 | LAMP3 | c.876C>G (p.Leu292=) c.804C>G (p.Leu268=) n.936C>G | |
| 3 | g.183152387G>T | CA437096182 | LAMP3 | c.876C>A (p.Leu292=) c.804C>A (p.Leu268=) n.936C>A | |
| 3 | g.183152388A>C | CA355321296 | LAMP3 | c.875T>G (p.Leu292Arg) c.803T>G (p.Leu268Arg) n.935T>G | |
| 3 | g.183152388A>G | CA355321297 | LAMP3 | c.875T>C (p.Leu292Pro) c.803T>C (p.Leu268Pro) n.935T>C | gnomAD v4 |
| 3 | g.183152388A>T | CA355321298 | LAMP3 | c.875T>A (p.Leu292His) c.803T>A (p.Leu268His) n.935T>A | |
| 3 | g.183152389G>A | CA2719419 | LAMP3 | c.874C>T (p.Leu292Phe) c.802C>T (p.Leu268Phe) n.934C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152389G>C | CA355321300 | LAMP3 | c.874C>G (p.Leu292Val) c.802C>G (p.Leu268Val) n.934C>G | |
| 3 | g.183152389G= | CA1425434257 | LAMP3 | c.874C= (p.Leu292=) c.802C= (p.Leu268=) n.934C= | |
| 3 | g.183152389G>T | CA355321299 | LAMP3 | c.874C>A (p.Leu292Ile) c.802C>A (p.Leu268Ile) n.934C>A | |
| 3 | g.183152390A= | CA1425434258 | LAMP3 | c.873T= (p.Asn291=) c.801T= (p.Asn267=) n.933T= | |
| 3 | g.183152390A>C | CA355321301 | LAMP3 | c.873T>G (p.Asn291Lys) c.801T>G (p.Asn267Lys) n.933T>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152390A>G | CA437096186 | LAMP3 | c.873T>C (p.Asn291=) c.801T>C (p.Asn267=) n.933T>C | |
| 3 | g.183152390A>T | CA355321302 | LAMP3 | c.873T>A (p.Asn291Lys) c.801T>A (p.Asn267Lys) n.933T>A | |
| 3 | g.183152391T>A | CA355321303 | LAMP3 | c.872A>T (p.Asn291Ile) c.800A>T (p.Asn267Ile) n.932A>T | |
| 3 | g.183152391T>C | CA355321304 | LAMP3 | c.872A>G (p.Asn291Ser) c.800A>G (p.Asn267Ser) n.932A>G | |
| 3 | g.183152391T>G | CA355321305 | LAMP3 | c.872A>C (p.Asn291Thr) c.800A>C (p.Asn267Thr) n.932A>C | |
| 3 | g.183152392T>A | CA355321306 | LAMP3 | c.871A>T (p.Asn291Tyr) c.799A>T (p.Asn267Tyr) n.931A>T | |
| 3 | g.183152392T>C | CA355321307 | LAMP3 | c.871A>G (p.Asn291Asp) c.799A>G (p.Asn267Asp) n.931A>G | |
| 3 | g.183152392T>G | CA355321308 | LAMP3 | c.871A>C (p.Asn291His) c.799A>C (p.Asn267His) n.931A>C | |
| 3 | g.183152393C>A | CA437096191 | LAMP3 | c.870G>T (p.Val290=) c.798G>T (p.Val266=) n.930G>T | |
| 3 | g.183152393C= | CA1425434259 | LAMP3 | c.870G= (p.Val290=) c.798G= (p.Val266=) n.930G= | |
| 3 | g.183152393C>G | CA437096192 | LAMP3 | c.870G>C (p.Val290=) c.798G>C (p.Val266=) n.930G>C | |
| 3 | g.183152393C>T | CA437096193 | LAMP3 | c.870G>A (p.Val290=) c.798G>A (p.Val266=) n.930G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152394A>C | CA355321309 | LAMP3 | c.869T>G (p.Val290Gly) c.797T>G (p.Val266Gly) n.929T>G | |
| 3 | g.183152394A>G | CA355321310 | LAMP3 | c.869T>C (p.Val290Ala) c.797T>C (p.Val266Ala) n.929T>C | gnomAD v4 |
| 3 | g.183152394A>T | CA355321311 | LAMP3 | c.869T>A (p.Val290Glu) c.797T>A (p.Val266Glu) n.929T>A | |
| 3 | g.183152395C>A | CA355321312 | LAMP3 | c.868G>T (p.Val290Leu) c.796G>T (p.Val266Leu) n.928G>T | |
| 3 | g.183152395C= | CA1425434260 | LAMP3 | c.868G= (p.Val290=) c.796G= (p.Val266=) n.928G= | |
| 3 | g.183152395C>G | CA355321313 | LAMP3 | c.868G>C (p.Val290Leu) c.796G>C (p.Val266Leu) n.928G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152395C>T | CA2719420 | LAMP3 | c.868G>A (p.Val290Met) c.796G>A (p.Val266Met) n.928G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152396A>C | CA355321315 | LAMP3 | c.867T>G (p.Phe289Leu) c.795T>G (p.Phe265Leu) n.927T>G | |
| 3 | g.183152396A>G | CA437096195 | LAMP3 | c.867T>C (p.Phe289=) c.795T>C (p.Phe265=) n.927T>C | gnomAD v4 |
| 3 | g.183152396A>T | CA355321314 | LAMP3 | c.867T>A (p.Phe289Leu) c.795T>A (p.Phe265Leu) n.927T>A | |
| 3 | g.183152397A>C | CA355321316 | LAMP3 | c.866T>G (p.Phe289Cys) c.794T>G (p.Phe265Cys) n.926T>G | |
| 3 | g.183152397A>G | CA355321317 | LAMP3 | c.866T>C (p.Phe289Ser) c.794T>C (p.Phe265Ser) n.926T>C | |
| 3 | g.183152397A>T | CA355321318 | LAMP3 | c.866T>A (p.Phe289Tyr) c.794T>A (p.Phe265Tyr) n.926T>A | gnomAD v4 |
| 3 | g.183152398A>C | CA355321319 | LAMP3 | c.865T>G (p.Phe289Val) c.793T>G (p.Phe265Val) n.925T>G | |
| 3 | g.183152398A>G | CA355321320 | LAMP3 | c.865T>C (p.Phe289Leu) c.793T>C (p.Phe265Leu) n.925T>C | |
| 3 | g.183152398A>T | CA355321321 | LAMP3 | c.865T>A (p.Phe289Ile) c.793T>A (p.Phe265Ile) n.925T>A | |
| 3 | g.183152399T>A | CA437096197 | LAMP3 | c.864A>T (p.Gly288=) c.792A>T (p.Gly264=) n.924A>T | |
| 3 | g.183152399T>C | CA437096198 | LAMP3 | c.864A>G (p.Gly288=) c.792A>G (p.Gly264=) n.924A>G | |
| 3 | g.183152399T>G | CA437096199 | LAMP3 | c.864A>C (p.Gly288=) c.792A>C (p.Gly264=) n.924A>C | |
| 3 | g.183152400C>A | CA355321322 | LAMP3 | c.863G>T (p.Gly288Val) c.791G>T (p.Gly264Val) n.923G>T | |
| 3 | g.183152400C>G | CA355321323 | LAMP3 | c.863G>C (p.Gly288Ala) c.791G>C (p.Gly264Ala) n.923G>C | |
| 3 | g.183152400C>T | CA355321324 | LAMP3 | c.863G>A (p.Gly288Glu) c.791G>A (p.Gly264Glu) n.923G>A | |
| 3 | g.183152401del | CA2668720112 | LAMP3 | c.863del (p.Gly288AspfsTer3) c.791del (p.Gly264AspfsTer3) n.923del | dbSNP gnomAD v4 |
| 3 | g.183152401C>A | CA2719421 | LAMP3 | c.862G>T (p.Gly288Ter) c.790G>T (p.Gly264Ter) n.922G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152401C= | CA1425434261 | LAMP3 | c.862G= (p.Gly288=) c.790G= (p.Gly264=) n.922G= | |
| 3 | g.183152401C>G | CA355321325 | LAMP3 | c.862G>C (p.Gly288Arg) c.790G>C (p.Gly264Arg) n.922G>C | |
| 3 | g.183152401C>T | CA88719830 | LAMP3 | c.862G>A (p.Gly288Arg) c.790G>A (p.Gly264Arg) n.922G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152402G>A | CA2719422 | LAMP3 | c.861C>T (p.Gly287=) c.789C>T (p.Gly263=) n.921C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152402G>C | CA437096204 | LAMP3 | c.861C>G (p.Gly287=) c.789C>G (p.Gly263=) n.921C>G | |
| 3 | g.183152402G= | CA1425434262 | LAMP3 | c.861C= (p.Gly287=) c.789C= (p.Gly263=) n.921C= | |
| 3 | g.183152402G>T | CA437096205 | LAMP3 | c.861C>A (p.Gly287=) c.789C>A (p.Gly263=) n.921C>A | dbSNP |
| 3 | g.183152403C>A | CA355321326 | LAMP3 | c.860G>T (p.Gly287Val) c.788G>T (p.Gly263Val) n.920G>T | |
| 3 | g.183152403C= | CA1425434263 | LAMP3 | c.860G= (p.Gly287=) c.788G= (p.Gly263=) n.920G= | |
| 3 | g.183152403C>G | CA355321327 | LAMP3 | c.860G>C (p.Gly287Ala) c.788G>C (p.Gly263Ala) n.920G>C | |
| 3 | g.183152403C>T | CA88719838 | LAMP3 | c.860G>A (p.Gly287Asp) c.788G>A (p.Gly263Asp) n.920G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152404C>A | CA355321328 | LAMP3 | c.859G>T (p.Gly287Cys) c.787G>T (p.Gly263Cys) n.919G>T | |
| 3 | g.183152404C>G | CA355321329 | LAMP3 | c.859G>C (p.Gly287Arg) c.787G>C (p.Gly263Arg) n.919G>C | |
| 3 | g.183152404C>T | CA355321330 | LAMP3 | c.859G>A (p.Gly287Ser) c.787G>A (p.Gly263Ser) n.919G>A | |
| 3 | g.183152405C>A | CA2719423 | LAMP3 | c.858G>T (p.Gln286His) c.786G>T (p.Gln262His) n.918G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152405C= | CA1425434264 | LAMP3 | c.858G= (p.Gln286=) c.786G= (p.Gln262=) n.918G= | |
| 3 | g.183152405C>G | CA355321331 | LAMP3 | c.858G>C (p.Gln286His) c.786G>C (p.Gln262His) n.918G>C | |
| 3 | g.183152405C>T | CA437096208 | LAMP3 | c.858G>A (p.Gln286=) c.786G>A (p.Gln262=) n.918G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152406T>A | CA355321332 | LAMP3 | c.857A>T (p.Gln286Leu) c.785A>T (p.Gln262Leu) n.917A>T | |
| 3 | g.183152406T>C | CA355321333 | LAMP3 | c.857A>G (p.Gln286Arg) c.785A>G (p.Gln262Arg) n.917A>G | gnomAD v4 |
| 3 | g.183152406T>G | CA355321334 | LAMP3 | c.857A>C (p.Gln286Pro) c.785A>C (p.Gln262Pro) n.917A>C | |
| 3 | g.183152407G>A | CA355321335 | LAMP3 | c.856C>T (p.Gln286Ter) c.784C>T (p.Gln262Ter) n.916C>T | COSMIC |
| 3 | g.183152407G>C | CA355321336 | LAMP3 | c.856C>G (p.Gln286Glu) c.784C>G (p.Gln262Glu) n.916C>G | |
| 3 | g.183152407G= | CA1425434265 | LAMP3 | c.856C= (p.Gln286=) c.784C= (p.Gln262=) n.916C= | |
| 3 | g.183152407G>T | CA355321337 | LAMP3 | c.856C>A (p.Gln286Lys) c.784C>A (p.Gln262Lys) n.916C>A | |
| 3 | g.183152408A>C | CA355321338 | LAMP3 | c.855T>G (p.Phe285Leu) c.783T>G (p.Phe261Leu) n.915T>G | |
| 3 | g.183152408A>G | CA437096210 | LAMP3 | c.855T>C (p.Phe285=) c.783T>C (p.Phe261=) n.915T>C | |
| 3 | g.183152408A>T | CA355321339 | LAMP3 | c.855T>A (p.Phe285Leu) c.783T>A (p.Phe261Leu) n.915T>A | |
| 3 | g.183152411dup | CA1057153641 | LAMP3 | c.855dup (p.Gln286SerfsTer13) c.783dup (p.Gln262SerfsTer13) n.915dup | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152409A>C | CA355321340 | LAMP3 | c.854T>G (p.Phe285Cys) c.782T>G (p.Phe261Cys) n.914T>G | |
| 3 | g.183152409A>G | CA355321342 | LAMP3 | c.854T>C (p.Phe285Ser) c.782T>C (p.Phe261Ser) n.914T>C | gnomAD v4 |
| 3 | g.183152409A>T | CA355321341 | LAMP3 | c.854T>A (p.Phe285Tyr) c.782T>A (p.Phe261Tyr) n.914T>A | |
| 3 | g.183152410A>C | CA355321343 | LAMP3 | c.853T>G (p.Phe285Val) c.781T>G (p.Phe261Val) n.913T>G | |
| 3 | g.183152410A>G | CA355321344 | LAMP3 | c.853T>C (p.Phe285Leu) c.781T>C (p.Phe261Leu) n.913T>C | |
| 3 | g.183152410A>T | CA355321345 | LAMP3 | c.853T>A (p.Phe285Ile) c.781T>A (p.Phe261Ile) n.913T>A | |
| 3 | g.183152411A>C | CA355321346 | LAMP3 | c.852T>G (p.Asn284Lys) c.780T>G (p.Asn260Lys) n.912T>G | |
| 3 | g.183152411A>G | CA437096213 | LAMP3 | c.852T>C (p.Asn284=) c.780T>C (p.Asn260=) n.912T>C | |
| 3 | g.183152411A>T | CA355321347 | LAMP3 | c.852T>A (p.Asn284Lys) c.780T>A (p.Asn260Lys) n.912T>A | |
| 3 | g.183152412T>A | CA355321348 | LAMP3 | c.851A>T (p.Asn284Ile) c.779A>T (p.Asn260Ile) n.911A>T | |
| 3 | g.183152412T>C | CA355321349 | LAMP3 | c.851A>G (p.Asn284Ser) c.779A>G (p.Asn260Ser) n.911A>G | |
| 3 | g.183152412T>G | CA355321350 | LAMP3 | c.851A>C (p.Asn284Thr) c.779A>C (p.Asn260Thr) n.911A>C | |
| 3 | g.183152413T>A | CA355321351 | LAMP3 | c.850A>T (p.Asn284Tyr) c.778A>T (p.Asn260Tyr) n.910A>T | |
| 3 | g.183152413T>C | CA355321352 | LAMP3 | c.850A>G (p.Asn284Asp) c.778A>G (p.Asn260Asp) n.910A>G | |
| 3 | g.183152413T>G | CA355321353 | LAMP3 | c.850A>C (p.Asn284His) c.778A>C (p.Asn260His) n.910A>C | |
| 3 | g.183152414C>A | CA355321354 | LAMP3 | c.849G>T (p.Leu283Phe) c.777G>T (p.Leu259Phe) n.909G>T | gnomAD v4 |
| 3 | g.183152414C>G | CA355321355 | LAMP3 | c.849G>C (p.Leu283Phe) c.777G>C (p.Leu259Phe) n.909G>C | |
| 3 | g.183152414C>T | CA437096217 | LAMP3 | c.849G>A (p.Leu283=) c.777G>A (p.Leu259=) n.909G>A | |
| 3 | g.183152415A= | CA1425434266 | LAMP3 | c.848T= (p.Leu283=) c.776T= (p.Leu259=) n.908T= | |
| 3 | g.183152415A>C | CA88719844 | LAMP3 | c.848T>G (p.Leu283Trp) c.776T>G (p.Leu259Trp) n.908T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152415A>G | CA355321357 | LAMP3 | c.848T>C (p.Leu283Ser) c.776T>C (p.Leu259Ser) n.908T>C | |
| 3 | g.183152415A>T | CA355321356 | LAMP3 | c.848T>A (p.Leu283Ter) c.776T>A (p.Leu259Ter) n.908T>A | |
| 3 | g.183152416A>C | CA355321358 | LAMP3 | c.847T>G (p.Leu283Val) c.775T>G (p.Leu259Val) n.907T>G | |
| 3 | g.183152416A>G | CA437096220 | LAMP3 | c.847T>C (p.Leu283=) c.775T>C (p.Leu259=) n.907T>C | |
| 3 | g.183152416A>T | CA355321359 | LAMP3 | c.847T>A (p.Leu283Met) c.775T>A (p.Leu259Met) n.907T>A | |
| 3 | g.183152417C>A | CA437096223 | LAMP3 | c.846G>T (p.Leu282=) c.774G>T (p.Leu258=) n.906G>T | |
| 3 | g.183152417C>G | CA437096224 | LAMP3 | c.846G>C (p.Leu282=) c.774G>C (p.Leu258=) n.906G>C | |
| 3 | g.183152417C>T | CA437096225 | LAMP3 | c.846G>A (p.Leu282=) c.774G>A (p.Leu258=) n.906G>A | |
| 3 | g.183152418A= | CA1425434267 | LAMP3 | c.845T= (p.Leu282=) c.773T= (p.Leu258=) n.905T= | |
| 3 | g.183152418A>C | CA355321360 | LAMP3 | c.845T>G (p.Leu282Arg) c.773T>G (p.Leu258Arg) n.905T>G | |
| 3 | g.183152418A>G | CA88719853 | LAMP3 | c.845T>C (p.Leu282Pro) c.773T>C (p.Leu258Pro) n.905T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152418A>T | CA355321361 | LAMP3 | c.845T>A (p.Leu282Gln) c.773T>A (p.Leu258Gln) n.905T>A | |
| 3 | g.183152419G>A | CA437096229 | LAMP3 | c.844C>T (p.Leu282=) c.772C>T (p.Leu258=) n.904C>T | gnomAD v4 |
| 3 | g.183152419G>C | CA355321362 | LAMP3 | c.844C>G (p.Leu282Val) c.772C>G (p.Leu258Val) n.904C>G | gnomAD v4 |
| 3 | g.183152419G= | CA1425434268 | LAMP3 | c.844C= (p.Leu282=) c.772C= (p.Leu258=) n.904C= | |
| 3 | g.183152419G>T | CA355321363 | LAMP3 | c.844C>A (p.Leu282Met) c.772C>A (p.Leu258Met) n.904C>A | dbSNP |
| 3 | g.183152420A= | CA1425434269 | LAMP3 | c.843T= (p.Leu281=) c.771T= (p.Leu257=) n.903T= | |
| 3 | g.183152420A>C | CA437096232 | LAMP3 | c.843T>G (p.Leu281=) c.771T>G (p.Leu257=) n.903T>G | |
| 3 | g.183152420A>G | CA437096233 | LAMP3 | c.843T>C (p.Leu281=) c.771T>C (p.Leu257=) n.903T>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152420A>T | CA437096234 | LAMP3 | c.843T>A (p.Leu281=) c.771T>A (p.Leu257=) n.903T>A | |
| 3 | g.183152421A>C | CA355321364 | LAMP3 | c.842T>G (p.Leu281Arg) c.770T>G (p.Leu257Arg) n.902T>G | |
| 3 | g.183152421A>G | CA355321365 | LAMP3 | c.842T>C (p.Leu281Pro) c.770T>C (p.Leu257Pro) n.902T>C | |
| 3 | g.183152421A>T | CA355321366 | LAMP3 | c.842T>A (p.Leu281His) c.770T>A (p.Leu257His) n.902T>A | |
| 3 | g.183152422G>A | CA355321367 | LAMP3 | c.841C>T (p.Leu281Phe) c.769C>T (p.Leu257Phe) n.901C>T | |
| 3 | g.183152422G>C | CA355321368 | LAMP3 | c.841C>G (p.Leu281Val) c.769C>G (p.Leu257Val) n.901C>G | |
| 3 | g.183152422G>T | CA355321369 | LAMP3 | c.841C>A (p.Leu281Ile) c.769C>A (p.Leu257Ile) n.901C>A | |
| 3 | g.183152423G>A | CA2719425 | LAMP3 | c.840C>T (p.Asn280=) c.768C>T (p.Asn256=) n.900C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152423G>C | CA2719426 | LAMP3 | c.840C>G (p.Asn280Lys) c.768C>G (p.Asn256Lys) n.900C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152423G= | CA1425434270 | LAMP3 | c.840C= (p.Asn280=) c.768C= (p.Asn256=) n.900C= | |
| 3 | g.183152423G>T | CA2719424 | LAMP3 | c.840C>A (p.Asn280Lys) c.768C>A (p.Asn256Lys) n.900C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152424T>A | CA355321372 | LAMP3 | c.839A>T (p.Asn280Ile) c.767A>T (p.Asn256Ile) n.899A>T | COSMIC |
| 3 | g.183152424T>C | CA355321371 | LAMP3 | c.839A>G (p.Asn280Ser) c.767A>G (p.Asn256Ser) n.899A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152424T>G | CA355321370 | LAMP3 | c.839A>C (p.Asn280Thr) c.767A>C (p.Asn256Thr) n.899A>C | |
| 3 | g.183152424T= | CA1425434271 | LAMP3 | c.839A= (p.Asn280=) c.767A= (p.Asn256=) n.899A= | |
| 3 | g.183152425T>A | CA355321373 | LAMP3 | c.838A>T (p.Asn280Tyr) c.766A>T (p.Asn256Tyr) n.898A>T | |
| 3 | g.183152425T>C | CA355321374 | LAMP3 | c.838A>G (p.Asn280Asp) c.766A>G (p.Asn256Asp) n.898A>G | |
| 3 | g.183152425T>G | CA355321375 | LAMP3 | c.838A>C (p.Asn280His) c.766A>C (p.Asn256His) n.898A>C | |
| 3 | g.183152426G>A | CA437096242 | LAMP3 | c.837C>T (p.Ser279=) c.765C>T (p.Ser255=) n.897C>T | gnomAD v4 |
| 3 | g.183152426G>C | CA437096243 | LAMP3 | c.837C>G (p.Ser279=) c.765C>G (p.Ser255=) n.897C>G | |
| 3 | g.183152426G>T | CA437096244 | LAMP3 | c.837C>A (p.Ser279=) c.765C>A (p.Ser255=) n.897C>A | |
| 3 | g.183152427G>A | CA355321376 | LAMP3 | c.836C>T (p.Ser279Phe) c.764C>T (p.Ser255Phe) n.896C>T | |
| 3 | g.183152427G>C | CA355321377 | LAMP3 | c.836C>G (p.Ser279Cys) c.764C>G (p.Ser255Cys) n.896C>G | |
| 3 | g.183152427G>T | CA355321378 | LAMP3 | c.836C>A (p.Ser279Tyr) c.764C>A (p.Ser255Tyr) n.896C>A | |
| 3 | g.183152428A>C | CA355321379 | LAMP3 | c.835T>G (p.Ser279Ala) c.763T>G (p.Ser255Ala) n.895T>G | |
| 3 | g.183152428A>G | CA355321380 | LAMP3 | c.835T>C (p.Ser279Pro) c.763T>C (p.Ser255Pro) n.895T>C | COSMIC |
| 3 | g.183152428A>T | CA355321381 | LAMP3 | c.835T>A (p.Ser279Thr) c.763T>A (p.Ser255Thr) n.895T>A | |
| 3 | g.183152429T>A | CA355321382 | LAMP3 | c.834A>T (p.Lys278Asn) c.762A>T (p.Lys254Asn) n.894A>T | |
| 3 | g.183152429T>C | CA437096248 | LAMP3 | c.834A>G (p.Lys278=) c.762A>G (p.Lys254=) n.894A>G | gnomAD v4 |
| 3 | g.183152429T>G | CA355321383 | LAMP3 | c.834A>C (p.Lys278Asn) c.762A>C (p.Lys254Asn) n.894A>C | |
| 3 | g.183152432dup | CA2668720113 | LAMP3 | c.834dup (p.Ser279IlefsTer20) c.762dup (p.Ser255IlefsTer20) n.894dup | gnomAD v4 |
| 3 | g.183152430T>A | CA355321386 | LAMP3 | c.833A>T (p.Lys278Ile) c.761A>T (p.Lys254Ile) n.893A>T | |
| 3 | g.183152430T>C | CA355321385 | LAMP3 | c.833A>G (p.Lys278Arg) c.761A>G (p.Lys254Arg) n.893A>G | |
| 3 | g.183152430T>G | CA355321384 | LAMP3 | c.833A>C (p.Lys278Thr) c.761A>C (p.Lys254Thr) n.893A>C | |
| 3 | g.183152431T>A | CA355321387 | LAMP3 | c.832A>T (p.Lys278Ter) c.760A>T (p.Lys254Ter) n.892A>T | |
| 3 | g.183152431T>C | CA355321388 | LAMP3 | c.832A>G (p.Lys278Glu) c.760A>G (p.Lys254Glu) n.892A>G | |
| 3 | g.183152431T>G | CA355321389 | LAMP3 | c.832A>C (p.Lys278Gln) c.760A>C (p.Lys254Gln) n.892A>C | |
| 3 | g.183152432_183152437dup | CA2668720114 | LAMP3 | c.827_832dup (p.Arg277_Lys278insThrArg) c.755_760dup (p.Arg253_Lys254insThrArg) n.887_892dup | gnomAD v4 |
| 3 | g.183152432T>A | CA437096249 | LAMP3 | c.831A>T (p.Arg277=) c.759A>T (p.Arg253=) n.891A>T | |
| 3 | g.183152432T>C | CA437096250 | LAMP3 | c.831A>G (p.Arg277=) c.759A>G (p.Arg253=) n.891A>G | |
| 3 | g.183152432T>G | CA437096251 | LAMP3 | c.831A>C (p.Arg277=) c.759A>C (p.Arg253=) n.891A>C | |
| 3 | g.183152433C>A | CA355321390 | LAMP3 | c.830G>T (p.Arg277Leu) c.758G>T (p.Arg253Leu) n.890G>T | |
| 3 | g.183152433C= | CA1425434272 | LAMP3 | c.830G= (p.Arg277=) c.758G= (p.Arg253=) n.890G= | |
| 3 | g.183152433C>G | CA355321391 | LAMP3 | c.830G>C (p.Arg277Pro) c.758G>C (p.Arg253Pro) n.890G>C | |
| 3 | g.183152433C>T | CA2719427 | LAMP3 | c.830G>A (p.Arg277Gln) c.758G>A (p.Arg253Gln) n.890G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152434G>A | CA2719428 | LAMP3 | c.829C>T (p.Arg277Ter) c.757C>T (p.Arg253Ter) n.889C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152434G>C | CA355321392 | LAMP3 | c.829C>G (p.Arg277Gly) c.757C>G (p.Arg253Gly) n.889C>G | |
| 3 | g.183152434G= | CA1425434273 | LAMP3 | c.829C= (p.Arg277=) c.757C= (p.Arg253=) n.889C= | |
| 3 | g.183152434G>T | CA437096258 | LAMP3 | c.829C>A (p.Arg277=) c.757C>A (p.Arg253=) n.889C>A | |
| 3 | g.183152435G>A | CA437096259 | LAMP3 | c.828C>T (p.Thr276=) c.756C>T (p.Thr252=) n.888C>T | |
| 3 | g.183152435G>C | CA437096260 | LAMP3 | c.828C>G (p.Thr276=) c.756C>G (p.Thr252=) n.888C>G | |
| 3 | g.183152435G>T | CA437096261 | LAMP3 | c.828C>A (p.Thr276=) c.756C>A (p.Thr252=) n.888C>A | |
| 3 | g.183152436G>A | CA355321393 | LAMP3 | c.827C>T (p.Thr276Ile) c.755C>T (p.Thr252Ile) n.887C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152436G>C | CA355321394 | LAMP3 | c.827C>G (p.Thr276Ser) c.755C>G (p.Thr252Ser) n.887C>G | |
| 3 | g.183152436G= | CA1425434274 | LAMP3 | c.827C= (p.Thr276=) c.755C= (p.Thr252=) n.887C= | |
| 3 | g.183152436G>T | CA355321395 | LAMP3 | c.827C>A (p.Thr276Asn) c.755C>A (p.Thr252Asn) n.887C>A | |
| 3 | g.183152437T>A | CA355321396 | LAMP3 | c.826A>T (p.Thr276Ser) c.754A>T (p.Thr252Ser) n.886A>T | |
| 3 | g.183152437T>C | CA355321397 | LAMP3 | c.826A>G (p.Thr276Ala) c.754A>G (p.Thr252Ala) n.886A>G | |
| 3 | g.183152437T>G | CA355321398 | LAMP3 | c.826A>C (p.Thr276Pro) c.754A>C (p.Thr252Pro) n.886A>C | |
| 3 | g.183152437_183152438delinsTG | CA1425434275 | LAMP3 | c.825_826delinsCA (p.Gly275=) c.753_754delinsCA (p.Gly251=) n.885_886delinsCA | |
| 3 | g.183152438del | CA2719429 | LAMP3 | c.825del (p.Thr276ProfsTer8) c.753del (p.Thr252ProfsTer8) n.885del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152438G>A | CA437096266 | LAMP3 | c.825C>T (p.Gly275=) c.753C>T (p.Gly251=) n.885C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152438G>C | CA437096267 | LAMP3 | c.825C>G (p.Gly275=) c.753C>G (p.Gly251=) n.885C>G | |
| 3 | g.183152438G= | CA1425434276 | LAMP3 | c.825C= (p.Gly275=) c.753C= (p.Gly251=) n.885C= | |
| 3 | g.183152438G>T | CA437096265 | LAMP3 | c.825C>A (p.Gly275=) c.753C>A (p.Gly251=) n.885C>A | |
| 3 | g.183152439C>A | CA355321399 | LAMP3 | c.824G>T (p.Gly275Val) c.752G>T (p.Gly251Val) n.884G>T | |
| 3 | g.183152439C= | CA1425434277 | LAMP3 | c.824G= (p.Gly275=) c.752G= (p.Gly251=) n.884G= | |
| 3 | g.183152439C>G | CA355321400 | LAMP3 | c.824G>C (p.Gly275Ala) c.752G>C (p.Gly251Ala) n.884G>C | |
| 3 | g.183152439C>T | CA355321401 | LAMP3 | c.824G>A (p.Gly275Asp) c.752G>A (p.Gly251Asp) n.884G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152440del | CA355321402 | LAMP3 | c.824del (p.Gly275AlafsTer9) c.752del (p.Gly251AlafsTer9) n.884del | |
| 3 | g.183152440C>A | CA355321403 | LAMP3 | c.823G>T (p.Gly275Cys) c.751G>T (p.Gly251Cys) n.883G>T | |
| 3 | g.183152440C= | CA1425434278 | LAMP3 | c.823G= (p.Gly275=) c.751G= (p.Gly251=) n.883G= | |
| 3 | g.183152440C>G | CA355321404 | LAMP3 | c.823G>C (p.Gly275Arg) c.751G>C (p.Gly251Arg) n.883G>C | |
| 3 | g.183152440C>T | CA2719430 | LAMP3 | c.823G>A (p.Gly275Ser) c.751G>A (p.Gly251Ser) n.883G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152441A>C | CA355321405 | LAMP3 | c.822T>G (p.Cys274Trp) c.750T>G (p.Cys250Trp) n.882T>G | |
| 3 | g.183152441A>G | CA437096271 | LAMP3 | c.822T>C (p.Cys274=) c.750T>C (p.Cys250=) n.882T>C | |
| 3 | g.183152441A>T | CA355321406 | LAMP3 | c.822T>A (p.Cys274Ter) c.750T>A (p.Cys250Ter) n.882T>A | |
| 3 | g.183152442C>A | CA355321407 | LAMP3 | c.821G>T (p.Cys274Phe) c.749G>T (p.Cys250Phe) n.881G>T | |
| 3 | g.183152442C>G | CA355321408 | LAMP3 | c.821G>C (p.Cys274Ser) c.749G>C (p.Cys250Ser) n.881G>C | |
| 3 | g.183152442C>T | CA355321409 | LAMP3 | c.821G>A (p.Cys274Tyr) c.749G>A (p.Cys250Tyr) n.881G>A | |
| 3 | g.183152443A= | CA1425434279 | LAMP3 | c.820T= (p.Cys274=) c.748T= (p.Cys250=) n.880T= | |
| 3 | g.183152443A>C | CA355321412 | LAMP3 | c.820T>G (p.Cys274Gly) c.748T>G (p.Cys250Gly) n.880T>G | |
| 3 | g.183152443A>G | CA355321411 | LAMP3 | c.820T>C (p.Cys274Arg) c.748T>C (p.Cys250Arg) n.880T>C | |
| 3 | g.183152443A>T | CA355321410 | LAMP3 | c.820T>A (p.Cys274Ser) c.748T>A (p.Cys250Ser) n.880T>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152444G>A | CA437096275 | LAMP3 | c.819C>T (p.Asn273=) c.747C>T (p.Asn249=) n.879C>T | |
| 3 | g.183152444G>C | CA355321413 | LAMP3 | c.819C>G (p.Asn273Lys) c.747C>G (p.Asn249Lys) n.879C>G | dbSNP |
| 3 | g.183152444G= | CA1425434280 | LAMP3 | c.819C= (p.Asn273=) c.747C= (p.Asn249=) n.879C= | |
| 3 | g.183152444G>T | CA355321414 | LAMP3 | c.819C>A (p.Asn273Lys) c.747C>A (p.Asn249Lys) n.879C>A | |
| 3 | g.183152445T>A | CA355321415 | LAMP3 | c.818A>T (p.Asn273Ile) c.746A>T (p.Asn249Ile) n.878A>T | |
| 3 | g.183152445T>C | CA355321416 | LAMP3 | c.818A>G (p.Asn273Ser) c.746A>G (p.Asn249Ser) n.878A>G | |
| 3 | g.183152445T>G | CA355321417 | LAMP3 | c.818A>C (p.Asn273Thr) c.746A>C (p.Asn249Thr) n.878A>C | |
| 3 | g.183152446T>A | CA355321418 | LAMP3 | c.817A>T (p.Asn273Tyr) c.745A>T (p.Asn249Tyr) n.877A>T | |
| 3 | g.183152446T>C | CA355321419 | LAMP3 | c.817A>G (p.Asn273Asp) c.745A>G (p.Asn249Asp) n.877A>G | |
| 3 | g.183152446T>G | CA355321420 | LAMP3 | c.817A>C (p.Asn273His) c.745A>C (p.Asn249His) n.877A>C | |
| 3 | g.183152447C>A | CA437096282 | LAMP3 | c.816G>T (p.Gly272=) c.744G>T (p.Gly248=) n.876G>T | |
| 3 | g.183152447C= | CA1425434281 | LAMP3 | c.816G= (p.Gly272=) c.744G= (p.Gly248=) n.876G= | |
| 3 | g.183152447C>G | CA437096283 | LAMP3 | c.816G>C (p.Gly272=) c.744G>C (p.Gly248=) n.876G>C | gnomAD v4 |
| 3 | g.183152447C>T | CA437096284 | LAMP3 | c.816G>A (p.Gly272=) c.744G>A (p.Gly248=) n.876G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.183152448C>A | CA355321421 | LAMP3 | c.815G>T (p.Gly272Val) c.743G>T (p.Gly248Val) n.875G>T | |
| 3 | g.183152448C>G | CA355321422 | LAMP3 | c.815G>C (p.Gly272Ala) c.743G>C (p.Gly248Ala) n.875G>C | gnomAD v4 |
| 3 | g.183152448C>T | CA355321423 | LAMP3 | c.815G>A (p.Gly272Glu) c.743G>A (p.Gly248Glu) n.875G>A | |
| 3 | g.183152449C>A | CA355321424 | LAMP3 | c.814G>T (p.Gly272Trp) c.742G>T (p.Gly248Trp) n.874G>T | |
| 3 | g.183152449C= | CA1425434282 | LAMP3 | c.814G= (p.Gly272=) c.742G= (p.Gly248=) n.874G= | |
| 3 | g.183152449C>G | CA355321425 | LAMP3 | c.814G>C (p.Gly272Arg) c.742G>C (p.Gly248Arg) n.874G>C | |
| 3 | g.183152449C>T | CA88719877 | LAMP3 | c.814G>A (p.Gly272Arg) c.742G>A (p.Gly248Arg) n.874G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.183152450A>C | CA437096285 | LAMP3 | c.813T>G (p.Ser271=) c.741T>G (p.Ser247=) n.873T>G | |
| 3 | g.183152450A>G | CA437096286 | LAMP3 | c.813T>C (p.Ser271=) c.741T>C (p.Ser247=) n.873T>C | gnomAD v4 |
| 3 | g.183152450A>T | CA437096287 | LAMP3 | c.813T>A (p.Ser271=) c.741T>A (p.Ser247=) n.873T>A | |
| 3 | g.183152451G>A | CA355321428 | LAMP3 | c.812C>T (p.Ser271Phe) c.740C>T (p.Ser247Phe) n.872C>T | gnomAD v4 COSMIC |
| 3 | g.183152451G>C | CA355321426 | LAMP3 | c.812C>G (p.Ser271Cys) c.740C>G (p.Ser247Cys) n.872C>G | |
| 3 | g.183152451G>T | CA355321427 | LAMP3 | c.812C>A (p.Ser271Tyr) c.740C>A (p.Ser247Tyr) n.872C>A | |
| 3 | g.183152452A>C | CA355321429 | LAMP3 | c.811T>G (p.Ser271Ala) c.739T>G (p.Ser247Ala) n.871T>G | |
| 3 | g.183152452A>G | CA355321430 | LAMP3 | c.811T>C (p.Ser271Pro) c.739T>C (p.Ser247Pro) n.871T>C | |
| 3 | g.183152452A>T | CA355321431 | LAMP3 | c.811T>A (p.Ser271Thr) c.739T>A (p.Ser247Thr) n.871T>A | |
| 3 | g.183152453G>A | CA437096290 | LAMP3 | c.810C>T (p.Ala270=) c.738C>T (p.Ala246=) n.870C>T | |
| 3 | g.183152453G>C | CA437096291 | LAMP3 | c.810C>G (p.Ala270=) c.738C>G (p.Ala246=) n.870C>G | |
| 3 | g.183152453G>T | CA437096292 | LAMP3 | c.810C>A (p.Ala270=) c.738C>A (p.Ala246=) n.870C>A | |
| 3 | g.183152454G>A | CA355321432 | LAMP3 | c.809C>T (p.Ala270Val) c.737C>T (p.Ala246Val) n.869C>T | |
| 3 | g.183152454G>C | CA355321433 | LAMP3 | c.809C>G (p.Ala270Gly) c.737C>G (p.Ala246Gly) n.869C>G | dbSNP gnomAD v4 |
| 3 | g.183152454G= | CA1425434283 | LAMP3 | c.809C= (p.Ala270=) c.737C= (p.Ala246=) n.869C= | |
| 3 | g.183152454G>T | CA355321434 | LAMP3 | c.809C>A (p.Ala270Asp) c.737C>A (p.Ala246Asp) n.869C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.183152455C>A | CA2719432 | LAMP3 | c.808G>T (p.Ala270Ser) c.736G>T (p.Ala246Ser) n.868G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.183152455C= | CA1425434284 | LAMP3 | c.808G= (p.Ala270=) c.736G= (p.Ala246=) n.868G= | |
| 3 | g.183152455C>G | CA355321435 | LAMP3 | c.808G>C (p.Ala270Pro) c.736G>C (p.Ala246Pro) n.868G>C | gnomAD v4 |
| 3 | g.183152455C>T | CA2719431 | LAMP3 | c.808G>A (p.Ala270Thr) c.736G>A (p.Ala246Thr) n.868G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152456T>A | CA355321436 | LAMP3 | c.807A>T (p.Gln269His) c.735A>T (p.Gln245His) n.867A>T | |
| 3 | g.183152456T>C | CA437096296 | LAMP3 | c.807A>G (p.Gln269=) c.735A>G (p.Gln245=) n.867A>G | |
| 3 | g.183152456T>G | CA355321437 | LAMP3 | c.807A>C (p.Gln269His) c.735A>C (p.Gln245His) n.867A>C | dbSNP |
| 3 | g.183152456T= | CA1425434285 | LAMP3 | c.807A= (p.Gln269=) c.735A= (p.Gln245=) n.867A= | |
| 3 | g.183152464_183152468dup | CA2668720115 | LAMP3 | c.803_807dup (p.Ala270ArgfsTer16) c.731_735dup (p.Ala246ArgfsTer16) n.863_867dup | gnomAD v4 |
| 3 | g.183152457T>A | CA355321439 | LAMP3 | c.806A>T (p.Gln269Leu) c.734A>T (p.Gln245Leu) n.866A>T | |
| 3 | g.183152457T>C | CA355321440 | LAMP3 | c.806A>G (p.Gln269Arg) c.734A>G (p.Gln245Arg) n.866A>G | |
| 3 | g.183152457T>G | CA355321438 | LAMP3 | c.806A>C (p.Gln269Pro) c.734A>C (p.Gln245Pro) n.866A>C | |
| 3 | g.183152458G>A | CA355321441 | LAMP3 | c.805C>T (p.Gln269Ter) c.733C>T (p.Gln245Ter) n.865C>T | |
| 3 | g.183152458G>C | CA2719433 | LAMP3 | c.805C>G (p.Gln269Glu) c.733C>G (p.Gln245Glu) n.865C>G | dbSNP ExAC gnomAD v2 |
| 3 | g.183152458G= | CA1425434286 | LAMP3 | c.805C= (p.Gln269=) c.733C= (p.Gln245=) n.865C= | |
| 3 | g.183152458G>T | CA355321442 | LAMP3 | c.805C>A (p.Gln269Lys) c.733C>A (p.Gln245Lys) n.865C>A | |
| 3 | g.183152459C>A | CA437096297 | LAMP3 | c.804G>T (p.Thr268=) c.732G>T (p.Thr244=) n.864G>T | |
| 3 | g.183152459C= | CA1425434287 | LAMP3 | c.804G= (p.Thr268=) c.732G= (p.Thr244=) n.864G= | |
| 3 | g.183152459C>G | CA437096298 | LAMP3 | c.804G>C (p.Thr268=) c.732G>C (p.Thr244=) n.864G>C | dbSNP |
| 3 | g.183152459C>T | CA2719434 | LAMP3 | c.804G>A (p.Thr268=) c.732G>A (p.Thr244=) n.864G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152460G>A | CA2719435 | LAMP3 | c.803C>T (p.Thr268Met) c.731C>T (p.Thr244Met) n.863C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152460G>C | CA2719436 | LAMP3 | c.803C>G (p.Thr268Arg) c.731C>G (p.Thr244Arg) n.863C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152460G= | CA1425434288 | LAMP3 | c.803C= (p.Thr268=) c.731C= (p.Thr244=) n.863C= | |
| 3 | g.183152460G>T | CA355321443 | LAMP3 | c.803C>A (p.Thr268Lys) c.731C>A (p.Thr244Lys) n.863C>A | |
| 3 | g.183152461T>A | CA355321444 | LAMP3 | c.802A>T (p.Thr268Ser) c.730A>T (p.Thr244Ser) n.862A>T | |
| 3 | g.183152461T>C | CA355321445 | LAMP3 | c.802A>G (p.Thr268Ala) c.730A>G (p.Thr244Ala) n.862A>G | |
| 3 | g.183152461T>G | CA355321446 | LAMP3 | c.802A>C (p.Thr268Pro) c.730A>C (p.Thr244Pro) n.862A>C | |
| 3 | g.183152462T>A | CA437096299 | LAMP3 | c.801A>T (p.Ala267=) c.729A>T (p.Ala243=) n.861A>T | |
| 3 | g.183152462T>C | CA437096300 | LAMP3 | c.801A>G (p.Ala267=) c.729A>G (p.Ala243=) n.861A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152462T>G | CA437096301 | LAMP3 | c.801A>C (p.Ala267=) c.729A>C (p.Ala243=) n.861A>C | |
| 3 | g.183152462T= | CA1425434289 | LAMP3 | c.801A= (p.Ala267=) c.729A= (p.Ala243=) n.861A= | |
| 3 | g.183152463G>A | CA355321447 | LAMP3 | c.800C>T (p.Ala267Val) c.728C>T (p.Ala243Val) n.860C>T | |
| 3 | g.183152463G>C | CA355321448 | LAMP3 | c.800C>G (p.Ala267Gly) c.728C>G (p.Ala243Gly) n.860C>G | |
| 3 | g.183152463G>T | CA355321449 | LAMP3 | c.800C>A (p.Ala267Glu) c.728C>A (p.Ala243Glu) n.860C>A | |
| 3 | g.183152464C>A | CA355321451 | LAMP3 | c.799G>T (p.Ala267Ser) c.727G>T (p.Ala243Ser) n.859G>T | dbSNP gnomAD v4 |
| 3 | g.183152464C= | CA1425434290 | LAMP3 | c.799G= (p.Ala267=) c.727G= (p.Ala243=) n.859G= | |
| 3 | g.183152464C>G | CA355321450 | LAMP3 | c.799G>C (p.Ala267Pro) c.727G>C (p.Ala243Pro) n.859G>C | |
| 3 | g.183152464C>T | CA2719437 | LAMP3 | c.799G>A (p.Ala267Thr) c.727G>A (p.Ala243Thr) n.859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152465G>A | CA2719439 | LAMP3 | c.798C>T (p.Asn266=) c.726C>T (p.Asn242=) n.858C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152465G>C | CA2719438 | LAMP3 | c.798C>G (p.Asn266Lys) c.726C>G (p.Asn242Lys) n.858C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152465G= | CA1425434291 | LAMP3 | c.798C= (p.Asn266=) c.726C= (p.Asn242=) n.858C= | |
| 3 | g.183152465G>T | CA2719440 | LAMP3 | c.798C>A (p.Asn266Lys) c.726C>A (p.Asn242Lys) n.858C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152466T>A | CA355321452 | LAMP3 | c.797A>T (p.Asn266Ile) c.725A>T (p.Asn242Ile) n.857A>T | |
| 3 | g.183152466T>C | CA355321453 | LAMP3 | c.797A>G (p.Asn266Ser) c.725A>G (p.Asn242Ser) n.857A>G | gnomAD v4 |
| 3 | g.183152466T>G | CA355321454 | LAMP3 | c.797A>C (p.Asn266Thr) c.725A>C (p.Asn242Thr) n.857A>C | |
| 3 | g.183152467T>A | CA355321455 | LAMP3 | c.796A>T (p.Asn266Tyr) c.724A>T (p.Asn242Tyr) n.856A>T | |
| 3 | g.183152467T>C | CA355321456 | LAMP3 | c.796A>G (p.Asn266Asp) c.724A>G (p.Asn242Asp) n.856A>G | |
| 3 | g.183152467T>G | CA355321457 | LAMP3 | c.796A>C (p.Asn266His) c.724A>C (p.Asn242His) n.856A>C | |
| 3 | g.183152468G>A | CA437096302 | LAMP3 | c.795C>T (p.Pro265=) c.723C>T (p.Pro241=) n.855C>T | |
| 3 | g.183152468G>C | CA437096303 | LAMP3 | c.795C>G (p.Pro265=) c.723C>G (p.Pro241=) n.855C>G | |
| 3 | g.183152468G= | CA1425434292 | LAMP3 | c.795C= (p.Pro265=) c.723C= (p.Pro241=) n.855C= | |
| 3 | g.183152468G>T | CA88719917 | LAMP3 | c.795C>A (p.Pro265=) c.723C>A (p.Pro241=) n.855C>A | dbSNP gnomAD v4 |
| 3 | g.183152469G>A | CA355321458 | LAMP3 | c.794C>T (p.Pro265Leu) c.722C>T (p.Pro241Leu) n.854C>T | gnomAD v4 |
| 3 | g.183152469G>C | CA355321459 | LAMP3 | c.794C>G (p.Pro265Arg) c.722C>G (p.Pro241Arg) n.854C>G | |
| 3 | g.183152469G>T | CA355321460 | LAMP3 | c.794C>A (p.Pro265His) c.722C>A (p.Pro241His) n.854C>A | |
| 3 | g.183152470_183152471insTGTGTTTGG | CA2759683046 | LAMP3 | c.794_795insAAACACACC (p.Pro265_Asn266insAsnThrPro) c.722_723insAAACACACC (p.Pro241_Asn242insAsnThrPro) n.854_855insAAACACACC | |
| 3 | g.183152470G>A | CA355321463 | LAMP3 | c.793C>T (p.Pro265Ser) c.721C>T (p.Pro241Ser) n.853C>T | gnomAD v4 |
| 3 | g.183152470G>C | CA355321462 | LAMP3 | c.793C>G (p.Pro265Ala) c.721C>G (p.Pro241Ala) n.853C>G | |
| 3 | g.183152470G>T | CA355321461 | LAMP3 | c.793C>A (p.Pro265Thr) c.721C>A (p.Pro241Thr) n.853C>A |