UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.152862637C>A | CA519157354 | NSDHL | c.456C>A (p.Gly152=) c.504C>A (p.Gly168=) | gnomAD v4 |
| X | g.152862637C= | CA2466152380 | NSDHL | c.456C= (p.Gly152=) c.504C= (p.Gly168=) | |
| X | g.152862637C>G | CA519157355 | NSDHL | c.456C>G (p.Gly152=) c.504C>G (p.Gly168=) | |
| X | g.152862637C>T | CA337612331 | NSDHL | c.456C>T (p.Gly152=) c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152862638G>A | CA415285202 | NSDHL | c.457G>A (p.Val153Ile) c.505G>A (p.Val169Ile) | dbSNP COSMIC |
| X | g.152862638G>C | CA415285203 | NSDHL | c.457G>C (p.Val153Leu) c.505G>C (p.Val169Leu) | |
| X | g.152862638G= | CA2466152381 | NSDHL | c.457G= (p.Val153=) c.505G= (p.Val169=) | |
| X | g.152862638G>T | CA415285204 | NSDHL | c.457G>T (p.Val153Phe) c.505G>T (p.Val169Phe) | |
| X | g.152862639T>A | CA415285205 | NSDHL | c.458T>A (p.Val153Asp) c.506T>A (p.Val169Asp) | |
| X | g.152862639T>C | CA415285206 | NSDHL | c.458T>C (p.Val153Ala) c.506T>C (p.Val169Ala) | |
| X | g.152862639T>G | CA415285207 | NSDHL | c.458T>G (p.Val153Gly) c.506T>G (p.Val169Gly) | |
| X | g.152862640C>A | CA519157356 | NSDHL | c.459C>A (p.Val153=) c.507C>A (p.Val169=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862640C= | CA2466152382 | NSDHL | c.459C= (p.Val153=) c.507C= (p.Val169=) | |
| X | g.152862640C>G | CA519157357 | NSDHL | c.459C>G (p.Val153=) c.507C>G (p.Val169=) | |
| X | g.152862640C>T | CA10544773 | NSDHL | c.459C>T (p.Val153=) c.507C>T (p.Val169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152862641G>A | CA415285210 | NSDHL | c.460G>A (p.Asp154Asn) c.508G>A (p.Asp170Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862641G>C | CA415285209 | NSDHL | c.460G>C (p.Asp154His) c.508G>C (p.Asp170His) | |
| X | g.152862641G= | CA2466152383 | NSDHL | c.460G= (p.Asp154=) c.508G= (p.Asp170=) | |
| X | g.152862641G>T | CA415285208 | NSDHL | c.460G>T (p.Asp154Tyr) c.508G>T (p.Asp170Tyr) | |
| X | g.152862642A>C | CA415285211 | NSDHL | c.461A>C (p.Asp154Ala) c.509A>C (p.Asp170Ala) | |
| X | g.152862642A>G | CA415285212 | NSDHL | c.461A>G (p.Asp154Gly) c.509A>G (p.Asp170Gly) | gnomAD v4 |
| X | g.152862642A>T | CA415285213 | NSDHL | c.461A>T (p.Asp154Val) c.509A>T (p.Asp170Val) | |
| X | g.152862643T>A | CA415285214 | NSDHL | c.462T>A (p.Asp154Glu) c.510T>A (p.Asp170Glu) | |
| X | g.152862643T>C | CA519157358 | NSDHL | c.462T>C (p.Asp154=) c.510T>C (p.Asp170=) | |
| X | g.152862643T>G | CA415285215 | NSDHL | c.462T>G (p.Asp154Glu) c.510T>G (p.Asp170Glu) | |
| X | g.152862644A= | CA2466152384 | NSDHL | c.463A= (p.Ile155=) c.511A= (p.Ile171=) | |
| X | g.152862644A>C | CA415285216 | NSDHL | c.463A>C (p.Ile155Leu) c.511A>C (p.Ile171Leu) | |
| X | g.152862644A>G | CA415285217 | NSDHL | c.463A>G (p.Ile155Val) c.511A>G (p.Ile171Val) | dbSNP |
| X | g.152862644A>T | CA415285218 | NSDHL | c.463A>T (p.Ile155Phe) c.511A>T (p.Ile171Phe) | |
| X | g.152862645T>A | CA415285219 | NSDHL | c.464T>A (p.Ile155Asn) c.512T>A (p.Ile171Asn) | |
| X | g.152862645T>C | CA415285220 | NSDHL | c.464T>C (p.Ile155Thr) c.512T>C (p.Ile171Thr) | |
| X | g.152862645T>G | CA415285221 | NSDHL | c.464T>G (p.Ile155Ser) c.512T>G (p.Ile171Ser) | |
| X | g.152862646C>A | CA519157361 | NSDHL | c.465C>A (p.Ile155=) c.513C>A (p.Ile171=) | |
| X | g.152862646C>G | CA415285222 | NSDHL | c.465C>G (p.Ile155Met) c.513C>G (p.Ile171Met) | |
| X | g.152862646C>T | CA519157363 | NSDHL | c.465C>T (p.Ile155=) c.513C>T (p.Ile171=) | |
| X | g.152862647A>C | CA415285224 | NSDHL | c.466A>C (p.Lys156Gln) c.514A>C (p.Lys172Gln) | |
| X | g.152862647A>G | CA415285225 | NSDHL | c.466A>G (p.Lys156Glu) c.514A>G (p.Lys172Glu) | gnomAD v4 |
| X | g.152862647A>T | CA415285223 | NSDHL | c.466A>T (p.Lys156Ter) c.514A>T (p.Lys172Ter) | |
| X | g.152862648A>C | CA415285228 | NSDHL | c.467A>C (p.Lys156Thr) c.515A>C (p.Lys172Thr) | |
| X | g.152862648A>G | CA415285226 | NSDHL | c.467A>G (p.Lys156Arg) c.515A>G (p.Lys172Arg) | dbSNP |
| X | g.152862648A>T | CA415285227 | NSDHL | c.467A>T (p.Lys156Met) c.515A>T (p.Lys172Met) | |
| X | g.152862649G>A | CA519157364 | NSDHL | c.468G>A (p.Lys156=) c.516G>A (p.Lys172=) | |
| X | g.152862649G>C | CA415285229 | NSDHL | c.468G>C (p.Lys156Asn) c.516G>C (p.Lys172Asn) | |
| X | g.152862649G>T | CA415285230 | NSDHL | c.468G>T (p.Lys156Asn) c.516G>T (p.Lys172Asn) | |
| X | g.152862650A>C | CA415285231 | NSDHL | c.469A>C (p.Asn157His) c.517A>C (p.Asn173His) | |
| X | g.152862650A>G | CA415285232 | NSDHL | c.469A>G (p.Asn157Asp) c.517A>G (p.Asn173Asp) | |
| X | g.152862650A>T | CA415285233 | NSDHL | c.469A>T (p.Asn157Tyr) c.517A>T (p.Asn173Tyr) | |
| X | g.152862651A>C | CA415285234 | NSDHL | c.470A>C (p.Asn157Thr) c.518A>C (p.Asn173Thr) | |
| X | g.152862651A>G | CA415285235 | NSDHL | c.470A>G (p.Asn157Ser) c.518A>G (p.Asn173Ser) | |
| X | g.152862651A>T | CA415285236 | NSDHL | c.470A>T (p.Asn157Ile) c.518A>T (p.Asn173Ile) | |
| X | g.152862652T>A | CA415285237 | NSDHL | c.471T>A (p.Asn157Lys) c.519T>A (p.Asn173Lys) | |
| X | g.152862652T>C | CA519157365 | NSDHL | c.471T>C (p.Asn157=) c.519T>C (p.Asn173=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862652T>G | CA415285238 | NSDHL | c.471T>G (p.Asn157Lys) c.519T>G (p.Asn173Lys) | |
| X | g.152862652T= | CA2466152385 | NSDHL | c.471T= (p.Asn157=) c.519T= (p.Asn173=) | |
| X | g.152862653G>A | CA415285241 | NSDHL | c.472G>A (p.Gly158Arg) c.520G>A (p.Gly174Arg) | |
| X | g.152862653G>C | CA415285240 | NSDHL | c.472G>C (p.Gly158Arg) c.520G>C (p.Gly174Arg) | |
| X | g.152862653G>T | CA415285239 | NSDHL | c.472G>T (p.Gly158Ter) c.520G>T (p.Gly174Ter) | |
| X | g.152862654G>A | CA415285242 | NSDHL | c.473G>A (p.Gly158Glu) c.521G>A (p.Gly174Glu) | |
| X | g.152862654G>C | CA415285243 | NSDHL | c.473G>C (p.Gly158Ala) c.521G>C (p.Gly174Ala) | |
| X | g.152862654G>T | CA415285244 | NSDHL | c.473G>T (p.Gly158Val) c.521G>T (p.Gly174Val) | |
| X | g.152862655A>C | CA519157366 | NSDHL | c.474A>C (p.Gly158=) c.522A>C (p.Gly174=) | |
| X | g.152862655A>G | CA519157368 | NSDHL | c.474A>G (p.Gly158=) c.522A>G (p.Gly174=) | |
| X | g.152862655A>T | CA519157367 | NSDHL | c.474A>T (p.Gly158=) c.522A>T (p.Gly174=) | |
| X | g.152862656A>C | CA415285245 | NSDHL | c.475A>C (p.Thr159Pro) c.523A>C (p.Thr175Pro) | |
| X | g.152862656A>G | CA415285246 | NSDHL | c.475A>G (p.Thr159Ala) c.523A>G (p.Thr175Ala) | |
| X | g.152862656A>T | CA415285247 | NSDHL | c.475A>T (p.Thr159Ser) c.523A>T (p.Thr175Ser) | |
| X | g.152862657C>A | CA415285248 | NSDHL | c.476C>A (p.Thr159Asn) c.524C>A (p.Thr175Asn) | |
| X | g.152862657C>G | CA415285249 | NSDHL | c.476C>G (p.Thr159Ser) c.524C>G (p.Thr175Ser) | |
| X | g.152862657C>T | CA415285250 | NSDHL | c.476C>T (p.Thr159Ile) c.524C>T (p.Thr175Ile) | |
| X | g.152862658T>A | CA519157369 | NSDHL | c.477T>A (p.Thr159=) c.525T>A (p.Thr175=) | |
| X | g.152862658T>C | CA519157370 | NSDHL | c.477T>C (p.Thr159=) c.525T>C (p.Thr175=) | |
| X | g.152862658T>G | CA519157371 | NSDHL | c.477T>G (p.Thr159=) c.525T>G (p.Thr175=) | |
| X | g.152862659G>A | CA415285251 | NSDHL | c.478G>A (p.Glu160Lys) c.526G>A (p.Glu176Lys) | |
| X | g.152862659G>C | CA415285252 | NSDHL | c.478G>C (p.Glu160Gln) c.526G>C (p.Glu176Gln) | |
| X | g.152862659G>T | CA415285253 | NSDHL | c.478G>T (p.Glu160Ter) c.526G>T (p.Glu176Ter) | |
| X | g.152862660A= | CA2466152386 | NSDHL | c.479A= (p.Glu160=) c.527A= (p.Glu176=) | |
| X | g.152862660A>C | CA415285254 | NSDHL | c.479A>C (p.Glu160Ala) c.527A>C (p.Glu176Ala) | |
| X | g.152862660A>G | CA337612333 | NSDHL | c.479A>G (p.Glu160Gly) c.527A>G (p.Glu176Gly) | dbSNP |
| X | g.152862660A>T | CA415285255 | NSDHL | c.479A>T (p.Glu160Val) c.527A>T (p.Glu176Val) | |
| X | g.152862661A>C | CA415285256 | NSDHL | c.480A>C (p.Glu160Asp) c.528A>C (p.Glu176Asp) | |
| X | g.152862661A>G | CA519157372 | NSDHL | c.480A>G (p.Glu160=) c.528A>G (p.Glu176=) | |
| X | g.152862661A>T | CA415285257 | NSDHL | c.480A>T (p.Glu160Asp) c.528A>T (p.Glu176Asp) | |
| X | g.152862662G>A | CA415285258 | NSDHL | c.481G>A (p.Asp161Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862662G>C | CA415285259 | NSDHL | c.481G>C (p.Asp161His) c.529G>C (p.Asp177His) | |
| X | g.152862662G= | CA2466152387 | NSDHL | c.481G= (p.Asp161=) c.529G= (p.Asp177=) | |
| X | g.152862662G>T | CA415285260 | NSDHL | c.481G>T (p.Asp161Tyr) c.529G>T (p.Asp177Tyr) | COSMIC |
| X | g.152862663A>C | CA415285261 | NSDHL | c.482A>C (p.Asp161Ala) c.530A>C (p.Asp177Ala) | |
| X | g.152862663A>G | CA415285262 | NSDHL | c.482A>G (p.Asp161Gly) c.530A>G (p.Asp177Gly) | |
| X | g.152862663A>T | CA415285263 | NSDHL | c.482A>T (p.Asp161Val) c.530A>T (p.Asp177Val) | |
| X | g.152862664C>A | CA415285264 | NSDHL | c.483C>A (p.Asp161Glu) c.531C>A (p.Asp177Glu) | |
| X | g.152862664C>G | CA415285265 | NSDHL | c.483C>G (p.Asp161Glu) c.531C>G (p.Asp177Glu) | |
| X | g.152862664C>T | CA519157374 | NSDHL | c.483C>T (p.Asp161=) c.531C>T (p.Asp177=) | |
| X | g.152862665C>A | CA415285268 | NSDHL | c.484C>A (p.Leu162Ile) c.532C>A (p.Leu178Ile) | gnomAD v4 |
| X | g.152862665C>G | CA415285267 | NSDHL | c.484C>G (p.Leu162Val) c.532C>G (p.Leu178Val) | |
| X | g.152862665C>T | CA415285266 | NSDHL | c.484C>T (p.Leu162Phe) c.532C>T (p.Leu178Phe) | |
| X | g.152862666T>A | CA415285269 | NSDHL | c.485T>A (p.Leu162His) c.533T>A (p.Leu178His) | |
| X | g.152862666T>C | CA415285270 | NSDHL | c.485T>C (p.Leu162Pro) c.533T>C (p.Leu178Pro) | |
| X | g.152862666T>G | CA415285271 | NSDHL | c.485T>G (p.Leu162Arg) c.533T>G (p.Leu178Arg) | |
| X | g.152862667T>A | CA519157377 | NSDHL | c.486T>A (p.Leu162=) c.534T>A (p.Leu178=) | |
| X | g.152862667T>C | CA519157376 | NSDHL | c.486T>C (p.Leu162=) c.534T>C (p.Leu178=) | |
| X | g.152862667T>G | CA519157375 | NSDHL | c.486T>G (p.Leu162=) c.534T>G (p.Leu178=) | |
| X | g.152862668C>A | CA415285272 | NSDHL | c.487C>A (p.Pro163Thr) c.535C>A (p.Pro179Thr) | |
| X | g.152862668C= | CA2466152388 | NSDHL | c.487C= (p.Pro163=) c.535C= (p.Pro179=) | |
| X | g.152862668C>G | CA415285273 | NSDHL | c.487C>G (p.Pro163Ala) c.535C>G (p.Pro179Ala) | |
| X | g.152862668C>T | CA10544774 | NSDHL | c.487C>T (p.Pro163Ser) c.535C>T (p.Pro179Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152862669C>A | CA415285274 | NSDHL | c.488C>A (p.Pro163His) c.536C>A (p.Pro179His) | |
| X | g.152862669C>G | CA415285275 | NSDHL | c.488C>G (p.Pro163Arg) c.536C>G (p.Pro179Arg) | |
| X | g.152862669C>T | CA415285276 | NSDHL | c.488C>T (p.Pro163Leu) c.536C>T (p.Pro179Leu) | dbSNP |
| X | g.152862670C>A | CA519157378 | NSDHL | c.489C>A (p.Pro163=) c.537C>A (p.Pro179=) | |
| X | g.152862670C= | CA2466152389 | NSDHL | c.489C= (p.Pro163=) c.537C= (p.Pro179=) | |
| X | g.152862670C>G | CA519157379 | NSDHL | c.489C>G (p.Pro163=) c.537C>G (p.Pro179=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862670C>T | CA519157380 | NSDHL | c.489C>T (p.Pro163=) c.537C>T (p.Pro179=) | |
| X | g.152862671T>A | CA415285277 | NSDHL | c.490T>A (p.Tyr164Asn) c.538T>A (p.Tyr180Asn) | |
| X | g.152862671T>C | CA415285278 | NSDHL | c.490T>C (p.Tyr164His) c.538T>C (p.Tyr180His) | |
| X | g.152862671T>G | CA415285279 | NSDHL | c.490T>G (p.Tyr164Asp) c.538T>G (p.Tyr180Asp) | |
| X | g.152862672A>C | CA415285281 | NSDHL | c.491A>C (p.Tyr164Ser) c.539A>C (p.Tyr180Ser) | |
| X | g.152862672A>G | CA415285282 | NSDHL | c.491A>G (p.Tyr164Cys) c.539A>G (p.Tyr180Cys) | |
| X | g.152862672A>T | CA415285280 | NSDHL | c.491A>T (p.Tyr164Phe) c.539A>T (p.Tyr180Phe) | |
| X | g.152862673T>A | CA415285283 | NSDHL | c.492T>A (p.Tyr164Ter) c.540T>A (p.Tyr180Ter) | |
| X | g.152862673T>C | CA519157381 | NSDHL | c.492T>C (p.Tyr164=) c.540T>C (p.Tyr180=) | |
| X | g.152862673T>G | CA415285284 | NSDHL | c.492T>G (p.Tyr164Ter) c.540T>G (p.Tyr180Ter) | |
| X | g.152862674G>A | CA415285285 | NSDHL | c.493G>A (p.Ala165Thr) c.541G>A (p.Ala181Thr) | |
| X | g.152862674G>C | CA415285286 | NSDHL | c.493G>C (p.Ala165Pro) c.541G>C (p.Ala181Pro) | |
| X | g.152862674G>T | CA415285287 | NSDHL | c.493G>T (p.Ala165Ser) c.541G>T (p.Ala181Ser) | |
| X | g.152862675C>A | CA415285290 | NSDHL | c.494C>A (p.Ala165Asp) c.542C>A (p.Ala181Asp) | |
| X | g.152862675C>G | CA415285289 | NSDHL | c.494C>G (p.Ala165Gly) c.542C>G (p.Ala181Gly) | |
| X | g.152862675C>T | CA415285288 | NSDHL | c.494C>T (p.Ala165Val) c.542C>T (p.Ala181Val) | gnomAD v4 |
| X | g.152862676C>A | CA519157382 | NSDHL | c.495C>A (p.Ala165=) c.543C>A (p.Ala181=) | |
| X | g.152862676C>G | CA519157383 | NSDHL | c.495C>G (p.Ala165=) c.543C>G (p.Ala181=) | |
| X | g.152862676C>T | CA519157384 | NSDHL | c.495C>T (p.Ala165=) c.543C>T (p.Ala181=) | |
| X | g.152862677A>C | CA415285291 | NSDHL | c.496A>C (p.Met166Leu) c.544A>C (p.Met182Leu) | |
| X | g.152862677A>G | CA415285292 | NSDHL | c.496A>G (p.Met166Val) c.544A>G (p.Met182Val) | |
| X | g.152862677A>T | CA415285293 | NSDHL | c.496A>T (p.Met166Leu) c.544A>T (p.Met182Leu) | |
| X | g.152862678T>A | CA415285294 | NSDHL | c.497T>A (p.Met166Lys) c.545T>A (p.Met182Lys) | |
| X | g.152862678T>C | CA415285295 | NSDHL | c.497T>C (p.Met166Thr) c.545T>C (p.Met182Thr) | |
| X | g.152862678T>G | CA415285296 | NSDHL | c.497T>G (p.Met166Arg) c.545T>G (p.Met182Arg) | |
| X | g.152862679G>A | CA415285297 | NSDHL | c.498G>A (p.Met166Ile) c.546G>A (p.Met182Ile) | |
| X | g.152862679G>C | CA415285299 | NSDHL | c.498G>C (p.Met166Ile) c.546G>C (p.Met182Ile) | |
| X | g.152862679G>T | CA415285298 | NSDHL | c.498G>T (p.Met166Ile) c.546G>T (p.Met182Ile) | |
| X | g.152862680A>C | CA415285300 | NSDHL | c.499A>C (p.Lys167Gln) c.547A>C (p.Lys183Gln) | |
| X | g.152862680A>G | CA415285301 | NSDHL | c.499A>G (p.Lys167Glu) c.547A>G (p.Lys183Glu) | |
| X | g.152862680A>T | CA415285302 | NSDHL | c.499A>T (p.Lys167Ter) c.547A>T (p.Lys183Ter) | |
| X | g.152862681A>C | CA415285303 | NSDHL | c.500A>C (p.Lys167Thr) c.548A>C (p.Lys183Thr) | |
| X | g.152862681A>G | CA415285304 | NSDHL | c.500A>G (p.Lys167Arg) c.548A>G (p.Lys183Arg) | |
| X | g.152862681A>T | CA415285305 | NSDHL | c.500A>T (p.Lys167Ile) c.548A>T (p.Lys183Ile) | |
| X | g.152862682A>C | CA415285306 | NSDHL | c.501A>C (p.Lys167Asn) c.549A>C (p.Lys183Asn) | |
| X | g.152862682A>G | CA519157385 | NSDHL | c.501A>G (p.Lys167=) c.549A>G (p.Lys183=) | |
| X | g.152862682A>T | CA415285307 | NSDHL | c.501A>T (p.Lys167Asn) c.549A>T (p.Lys183Asn) | COSMIC |
| X | g.152862683C>A | CA415285308 | NSDHL | c.502C>A (p.Pro168Thr) c.550C>A (p.Pro184Thr) | |
| X | g.152862683C>G | CA415285309 | NSDHL | c.502C>G (p.Pro168Ala) c.550C>G (p.Pro184Ala) | |
| X | g.152862683C>T | CA415285310 | NSDHL | c.502C>T (p.Pro168Ser) c.550C>T (p.Pro184Ser) | |
| X | g.152862684C>A | CA415285311 | NSDHL | c.503C>A (p.Pro168His) c.551C>A (p.Pro184His) | |
| X | g.152862684C>G | CA415285313 | NSDHL | c.503C>G (p.Pro168Arg) c.551C>G (p.Pro184Arg) | |
| X | g.152862684C>T | CA415285312 | NSDHL | c.503C>T (p.Pro168Leu) c.551C>T (p.Pro184Leu) | |
| X | g.152862685C>A | CA519157386 | NSDHL | c.504C>A (p.Pro168=) c.552C>A (p.Pro184=) | |
| X | g.152862685C>G | CA519157387 | NSDHL | c.504C>G (p.Pro168=) c.552C>G (p.Pro184=) | |
| X | g.152862685C>T | CA519157388 | NSDHL | c.504C>T (p.Pro168=) c.552C>T (p.Pro184=) | |
| X | g.152862686A= | CA2466152390 | NSDHL | c.505A= (p.Ile169=) c.553A= (p.Ile185=) | |
| X | g.152862686A>C | CA415285314 | NSDHL | c.505A>C (p.Ile169Leu) c.553A>C (p.Ile185Leu) | |
| X | g.152862686A>G | CA10544775 | NSDHL | c.505A>G (p.Ile169Val) c.553A>G (p.Ile185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862686A>T | CA415285315 | NSDHL | c.505A>T (p.Ile169Phe) c.553A>T (p.Ile185Phe) | |
| X | g.152862687T>A | CA415285316 | NSDHL | c.506T>A (p.Ile169Asn) c.554T>A (p.Ile185Asn) | |
| X | g.152862687T>C | CA10544776 | NSDHL | c.506T>C (p.Ile169Thr) c.554T>C (p.Ile185Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862687T>G | CA415285317 | NSDHL | c.506T>G (p.Ile169Ser) c.554T>G (p.Ile185Ser) | |
| X | g.152862687T= | CA2466152391 | NSDHL | c.506T= (p.Ile169=) c.554T= (p.Ile185=) | |
| X | g.152862688T>A | CA519157389 | NSDHL | c.507T>A (p.Ile169=) c.555T>A (p.Ile185=) | |
| X | g.152862688T>C | CA519157390 | NSDHL | c.507T>C (p.Ile169=) c.555T>C (p.Ile185=) | |
| X | g.152862688T>G | CA415285318 | NSDHL | c.507T>G (p.Ile169Met) c.555T>G (p.Ile185Met) | |
| X | g.152862689G>A | CA415285319 | NSDHL | c.508G>A (p.Asp170Asn) c.556G>A (p.Asp186Asn) | |
| X | g.152862689G>C | CA415285320 | NSDHL | c.508G>C (p.Asp170His) c.556G>C (p.Asp186His) | |
| X | g.152862689G>T | CA415285321 | NSDHL | c.508G>T (p.Asp170Tyr) c.556G>T (p.Asp186Tyr) | |
| X | g.152862690A>C | CA415285322 | NSDHL | c.509A>C (p.Asp170Ala) c.557A>C (p.Asp186Ala) | |
| X | g.152862690A>G | CA415285323 | NSDHL | c.509A>G (p.Asp170Gly) c.557A>G (p.Asp186Gly) | |
| X | g.152862690A>T | CA415285324 | NSDHL | c.509A>T (p.Asp170Val) c.557A>T (p.Asp186Val) | |
| X | g.152862691C>A | CA415285325 | NSDHL | c.510C>A (p.Asp170Glu) c.558C>A (p.Asp186Glu) | |
| X | g.152862691C>G | CA415285326 | NSDHL | c.510C>G (p.Asp170Glu) c.558C>G (p.Asp186Glu) | |
| X | g.152862691C>T | CA519157391 | NSDHL | c.510C>T (p.Asp170=) c.558C>T (p.Asp186=) | |
| X | g.152862692T>A | CA415285327 | NSDHL | c.511T>A (p.Tyr171Asn) c.559T>A (p.Tyr187Asn) | |
| X | g.152862692T>C | CA415285328 | NSDHL | c.511T>C (p.Tyr171His) c.559T>C (p.Tyr187His) | |
| X | g.152862692T>G | CA415285329 | NSDHL | c.511T>G (p.Tyr171Asp) c.559T>G (p.Tyr187Asp) | |
| X | g.152862693A= | CA2466152392 | NSDHL | c.512A= (p.Tyr171=) c.560A= (p.Tyr187=) | |
| X | g.152862693A>C | CA415285330 | NSDHL | c.512A>C (p.Tyr171Ser) c.560A>C (p.Tyr187Ser) | |
| X | g.152862693A>G | CA415285331 | NSDHL | c.512A>G (p.Tyr171Cys) c.560A>G (p.Tyr187Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152862693A>T | CA415285332 | NSDHL | c.512A>T (p.Tyr171Phe) c.560A>T (p.Tyr187Phe) | |
| X | g.152862694C>A | CA415285333 | NSDHL | c.513C>A (p.Tyr171Ter) c.561C>A (p.Tyr187Ter) | |
| X | g.152862694C>G | CA415285334 | NSDHL | c.513C>G (p.Tyr171Ter) c.561C>G (p.Tyr187Ter) | |
| X | g.152862694C>T | CA519157392 | NSDHL | c.513C>T (p.Tyr171=) c.561C>T (p.Tyr187=) | |
| X | g.152862695T>A | CA415285335 | NSDHL | c.514T>A (p.Tyr172Asn) c.562T>A (p.Tyr188Asn) | |
| X | g.152862695T>C | CA415285336 | NSDHL | c.514T>C (p.Tyr172His) c.562T>C (p.Tyr188His) | |
| X | g.152862695T>G | CA415285337 | NSDHL | c.514T>G (p.Tyr172Asp) c.562T>G (p.Tyr188Asp) | |
| X | g.152862696A>C | CA415285340 | NSDHL | c.515A>C (p.Tyr172Ser) c.563A>C (p.Tyr188Ser) | |
| X | g.152862696A>G | CA415285339 | NSDHL | c.515A>G (p.Tyr172Cys) c.563A>G (p.Tyr188Cys) | |
| X | g.152862696A>T | CA415285338 | NSDHL | c.515A>T (p.Tyr172Phe) c.563A>T (p.Tyr188Phe) | |
| X | g.152862697C>A | CA415285341 | NSDHL | c.516C>A (p.Tyr172Ter) c.564C>A (p.Tyr188Ter) | |
| X | g.152862697C>G | CA415285342 | NSDHL | c.516C>G (p.Tyr172Ter) c.564C>G (p.Tyr188Ter) | |
| X | g.152862697C>T | CA519157393 | NSDHL | c.516C>T (p.Tyr172=) c.564C>T (p.Tyr188=) | |
| X | g.152862698A>C | CA415285343 | NSDHL | c.517A>C (p.Thr173Pro) c.565A>C (p.Thr189Pro) | |
| X | g.152862698A>G | CA415285345 | NSDHL | c.517A>G (p.Thr173Ala) c.565A>G (p.Thr189Ala) | |
| X | g.152862698A>T | CA415285344 | NSDHL | c.517A>T (p.Thr173Ser) c.565A>T (p.Thr189Ser) | |
| X | g.152862699C>A | CA415285346 | NSDHL | c.518C>A (p.Thr173Lys) c.566C>A (p.Thr189Lys) | gnomAD v4 |
| X | g.152862699C>G | CA415285350 | NSDHL | c.518C>G (p.Thr173Arg) c.566C>G (p.Thr189Arg) | |
| X | g.152862699C>T | CA415285348 | NSDHL | c.518C>T (p.Thr173Ile) c.566C>T (p.Thr189Ile) | |
| X | g.152862700A= | CA2466152393 | NSDHL | c.519A= (p.Thr173=) c.567A= (p.Thr189=) | |
| X | g.152862700A>C | CA519157394 | NSDHL | c.519A>C (p.Thr173=) c.567A>C (p.Thr189=) | COSMIC |
| X | g.152862700A>G | CA337612344 | NSDHL | c.519A>G (p.Thr173=) c.567A>G (p.Thr189=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862700A>T | CA519157395 | NSDHL | c.519A>T (p.Thr173=) c.567A>T (p.Thr189=) | |
| X | g.152862701G>A | CA415285352 | NSDHL | c.520G>A (p.Glu174Lys) c.568G>A (p.Glu190Lys) | |
| X | g.152862701G>C | CA415285356 | NSDHL | c.520G>C (p.Glu174Gln) c.568G>C (p.Glu190Gln) | |
| X | g.152862701G>T | CA415285354 | NSDHL | c.520G>T (p.Glu174Ter) c.568G>T (p.Glu190Ter) | |
| X | g.152862702A>C | CA415285358 | NSDHL | c.521A>C (p.Glu174Ala) c.569A>C (p.Glu190Ala) | |
| X | g.152862702A>G | CA415285362 | NSDHL | c.521A>G (p.Glu174Gly) c.569A>G (p.Glu190Gly) | |
| X | g.152862702A>T | CA415285360 | NSDHL | c.521A>T (p.Glu174Val) c.569A>T (p.Glu190Val) | |
| X | g.152862703G>A | CA519157396 | NSDHL | c.522G>A (p.Glu174=) c.570G>A (p.Glu190=) | |
| X | g.152862703G>C | CA415285363 | NSDHL | c.522G>C (p.Glu174Asp) c.570G>C (p.Glu190Asp) | |
| X | g.152862703G>T | CA415285365 | NSDHL | c.522G>T (p.Glu174Asp) c.570G>T (p.Glu190Asp) | |
| X | g.152862704A>C | CA415285367 | NSDHL | c.523A>C (p.Thr175Pro) c.571A>C (p.Thr191Pro) | |
| X | g.152862704A>G | CA415285369 | NSDHL | c.523A>G (p.Thr175Ala) c.571A>G (p.Thr191Ala) | |
| X | g.152862704A>T | CA415285371 | NSDHL | c.523A>T (p.Thr175Ser) c.571A>T (p.Thr191Ser) | |
| X | g.152862705C>A | CA415285373 | NSDHL | c.524C>A (p.Thr175Asn) c.572C>A (p.Thr191Asn) | |
| X | g.152862705C>G | CA415285375 | NSDHL | c.524C>G (p.Thr175Ser) c.572C>G (p.Thr191Ser) | |
| X | g.152862705C>T | CA415285376 | NSDHL | c.524C>T (p.Thr175Ile) c.572C>T (p.Thr191Ile) | |
| X | g.152862706T>A | CA519157399 | NSDHL | c.525T>A (p.Thr175=) c.573T>A (p.Thr191=) | |
| X | g.152862706T>C | CA519157398 | NSDHL | c.525T>C (p.Thr175=) c.573T>C (p.Thr191=) | |
| X | g.152862706T>G | CA519157397 | NSDHL | c.525T>G (p.Thr175=) c.573T>G (p.Thr191=) | |
| X | g.152862707A>C | CA415285379 | NSDHL | c.526A>C (p.Lys176Gln) c.574A>C (p.Lys192Gln) | |
| X | g.152862707A>G | CA415285381 | NSDHL | c.526A>G (p.Lys176Glu) c.574A>G (p.Lys192Glu) | |
| X | g.152862707A>T | CA415285383 | NSDHL | c.526A>T (p.Lys176Ter) c.574A>T (p.Lys192Ter) | |
| X | g.152862708del | CA2579725465 | NSDHL | c.527del (p.Lys176ArgfsTer19) c.575del (p.Lys192ArgfsTer19) | |
| X | g.152862708A>C | CA415285385 | NSDHL | c.527A>C (p.Lys176Thr) c.575A>C (p.Lys192Thr) | |
| X | g.152862708A>G | CA415285386 | NSDHL | c.527A>G (p.Lys176Arg) c.575A>G (p.Lys192Arg) | |
| X | g.152862708A>T | CA415285389 | NSDHL | c.527A>T (p.Lys176Met) c.575A>T (p.Lys192Met) | |
| X | g.152862709G>A | CA519157400 | NSDHL | c.528G>A (p.Lys176=) c.576G>A (p.Lys192=) | |
| X | g.152862709G>C | CA415285391 | NSDHL | c.528G>C (p.Lys176Asn) c.576G>C (p.Lys192Asn) | |
| X | g.152862709G>T | CA415285390 | NSDHL | c.528G>T (p.Lys176Asn) c.576G>T (p.Lys192Asn) | |
| X | g.152862710A= | CA2466152394 | NSDHL | c.529A= (p.Ile177=) c.577A= (p.Ile193=) | |
| X | g.152862710A>C | CA415285392 | NSDHL | c.529A>C (p.Ile177Leu) c.577A>C (p.Ile193Leu) | |
| X | g.152862710A>G | CA337612347 | NSDHL | c.529A>G (p.Ile177Val) c.577A>G (p.Ile193Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862710A>T | CA415285393 | NSDHL | c.529A>T (p.Ile177Phe) c.577A>T (p.Ile193Phe) | |
| X | g.152862711T>A | CA415285396 | NSDHL | c.530T>A (p.Ile177Asn) c.578T>A (p.Ile193Asn) | |
| X | g.152862711T>C | CA415285398 | NSDHL | c.530T>C (p.Ile177Thr) c.578T>C (p.Ile193Thr) | |
| X | g.152862711T>G | CA415285399 | NSDHL | c.530T>G (p.Ile177Ser) c.578T>G (p.Ile193Ser) | |
| X | g.152862712C>A | CA519157401 | NSDHL | c.531C>A (p.Ile177=) c.579C>A (p.Ile193=) | |
| X | g.152862712C>G | CA415285401 | NSDHL | c.531C>G (p.Ile177Met) c.579C>G (p.Ile193Met) | |
| X | g.152862712C>T | CA519157402 | NSDHL | c.531C>T (p.Ile177=) c.579C>T (p.Ile193=) | |
| X | g.152862713T>A | CA415285404 | NSDHL | c.532T>A (p.Leu178Ile) c.580T>A (p.Leu194Ile) | |
| X | g.152862713T>C | CA519157403 | NSDHL | c.532T>C (p.Leu178=) c.580T>C (p.Leu194=) | |
| X | g.152862713T>G | CA415285405 | NSDHL | c.532T>G (p.Leu178Val) c.580T>G (p.Leu194Val) | |
| X | g.152862714del | CA2579725466 | NSDHL | c.533del (p.Leu178TyrfsTer17) c.581del (p.Leu194TyrfsTer17) | |
| X | g.152862714T>A | CA415285408 | NSDHL | c.533T>A (p.Leu178Ter) c.581T>A (p.Leu194Ter) | |
| X | g.152862714T>C | CA415285409 | NSDHL | c.533T>C (p.Leu178Ser) c.581T>C (p.Leu194Ser) | |
| X | g.152862714T>G | CA415285412 | NSDHL | c.533T>G (p.Leu178Ter) c.581T>G (p.Leu194Ter) | |
| X | g.152862715A= | CA2466152395 | NSDHL | c.534A= (p.Leu178=) c.582A= (p.Leu194=) | |
| X | g.152862715A>C | CA415285414 | NSDHL | c.534A>C (p.Leu178Phe) c.582A>C (p.Leu194Phe) | |
| X | g.152862715A>G | CA10544777 | NSDHL | c.534A>G (p.Leu178=) c.582A>G (p.Leu194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152862715A>T | CA415285417 | NSDHL | c.534A>T (p.Leu178Phe) c.582A>T (p.Leu194Phe) | |
| X | g.152862716C>A | CA415285419 | NSDHL | c.535C>A (p.Gln179Lys) c.583C>A (p.Gln195Lys) | |
| X | g.152862716C>G | CA415285421 | NSDHL | c.535C>G (p.Gln179Glu) c.583C>G (p.Gln195Glu) | |
| X | g.152862716C>T | CA415285423 | NSDHL | c.535C>T (p.Gln179Ter) c.583C>T (p.Gln195Ter) | |
| X | g.152862717A>C | CA415285425 | NSDHL | c.536A>C (p.Gln179Pro) c.584A>C (p.Gln195Pro) | |
| X | g.152862717A>G | CA415285427 | NSDHL | c.536A>G (p.Gln179Arg) c.584A>G (p.Gln195Arg) | |
| X | g.152862717A>T | CA415285429 | NSDHL | c.536A>T (p.Gln179Leu) c.584A>T (p.Gln195Leu) | |
| X | g.152862718G>A | CA519157404 | NSDHL | c.537G>A (p.Gln179=) c.585G>A (p.Gln195=) | gnomAD v4 |
| X | g.152862718G>C | CA415285431 | NSDHL | c.537G>C (p.Gln179His) c.585G>C (p.Gln195His) | |
| X | g.152862718G>T | CA415285433 | NSDHL | c.537G>T (p.Gln179His) c.585G>T (p.Gln195His) | |
| X | g.152862719G>A | CA415285436 | NSDHL | c.538G>A (p.Glu180Lys) c.586G>A (p.Glu196Lys) | |
| X | g.152862719G>C | CA415285438 | NSDHL | c.538G>C (p.Glu180Gln) c.586G>C (p.Glu196Gln) | |
| X | g.152862719G>T | CA415285440 | NSDHL | c.538G>T (p.Glu180Ter) c.586G>T (p.Glu196Ter) | |
| X | g.152862720A>C | CA415285446 | NSDHL | c.539A>C (p.Glu180Ala) c.587A>C (p.Glu196Ala) | |
| X | g.152862720A>G | CA415285442 | NSDHL | c.539A>G (p.Glu180Gly) c.587A>G (p.Glu196Gly) | |
| X | g.152862720A>T | CA415285444 | NSDHL | c.539A>T (p.Glu180Val) c.587A>T (p.Glu196Val) | |
| X | g.152862721G>A | CA519157405 | NSDHL | c.540G>A (p.Glu180=) c.588G>A (p.Glu196=) | |
| X | g.152862721G>C | CA415285448 | NSDHL | c.540G>C (p.Glu180Asp) c.588G>C (p.Glu196Asp) | |
| X | g.152862721G>T | CA415285450 | NSDHL | c.540G>T (p.Glu180Asp) c.588G>T (p.Glu196Asp) | |
| X | g.152862722A>C | CA519157406 | NSDHL | c.541A>C (p.Arg181=) c.589A>C (p.Arg197=) | |
| X | g.152862722A>G | CA415285452 | NSDHL | c.541A>G (p.Arg181Gly) c.589A>G (p.Arg197Gly) | |
| X | g.152862722A>T | CA415285454 | NSDHL | c.541A>T (p.Arg181Trp) c.589A>T (p.Arg197Trp) | gnomAD v4 |
| X | g.152862723G>A | CA415285456 | NSDHL | c.542G>A (p.Arg181Lys) c.590G>A (p.Arg197Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.152862723G>C | CA415285457 | NSDHL | c.542G>C (p.Arg181Thr) c.590G>C (p.Arg197Thr) | |
| X | g.152862723G= | CA2466152396 | NSDHL | c.542G= (p.Arg181=) c.590G= (p.Arg197=) | |
| X | g.152862723G>T | CA415285459 | NSDHL | c.542G>T (p.Arg181Met) c.590G>T (p.Arg197Met) | |
| X | g.152862724G>A | CA519157407 | NSDHL | c.543G>A (p.Arg181=) c.591G>A (p.Arg197=) | |
| X | g.152862724G>C | CA415285461 | NSDHL | c.543G>C (p.Arg181Ser) c.591G>C (p.Arg197Ser) | |
| X | g.152862724G>T | CA415285462 | NSDHL | c.543G>T (p.Arg181Ser) c.591G>T (p.Arg197Ser) | |
| X | g.152862725G>A | CA415285469 | NSDHL | c.543+1G>A (n.543+1G>A) c.591+1G>A (n.591+1G>A) | COSMIC |
| X | g.152862725G>C | CA415285467 | NSDHL | c.543+1G>C (n.543+1G>C) c.591+1G>C (n.591+1G>C) | |
| X | g.152862725G>T | CA415285465 | NSDHL | c.543+1G>T (n.543+1G>T) c.591+1G>T (n.591+1G>T) | |
| X | g.152862726T>A | CA415285471 | NSDHL | c.543+2T>A (n.543+2T>A) c.591+2T>A (n.591+2T>A) | |
| X | g.152862726T>C | CA415285474 | NSDHL | c.543+2T>C (n.543+2T>C) c.591+2T>C (n.591+2T>C) | |
| X | g.152862726T>G | CA415285473 | NSDHL | c.543+2T>G (n.543+2T>G) c.591+2T>G (n.591+2T>G) | |
| X | g.152862727A>G | CA2824241885 | NSDHL | c.543+3A>G (n.543+3A>G) c.591+3A>G (n.591+3A>G) | |
| X | g.152862728T>G | CA645215058 | NSDHL | c.543+4T>G (n.543+4T>G) c.591+4T>G (n.591+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152862728T= | CA2466152397 | NSDHL | c.543+4T= (n.543+4T=) c.591+4T= (n.591+4T=) | |
| X | g.152862729G>T | CA645617034 | NSDHL | c.543+5G>T (n.543+5G>T) c.591+5G>T (n.591+5G>T) | COSMIC |
| X | g.152862730T>A | CA2579725467 | NSDHL | c.543+6T>A (n.543+6T>A) c.591+6T>A (n.591+6T>A) | |
| X | g.152862730T>C | CA2694983103 | NSDHL | c.543+6T>C (n.543+6T>C) c.591+6T>C (n.591+6T>C) | ClinVar gnomAD v4 |
| X | g.152862731A= | CA2466152398 | NSDHL | c.543+7A= (n.543+7A=) c.591+7A= (n.591+7A=) | |
| X | g.152862731A>G | CA2466152399 | NSDHL | c.543+7A>G (n.543+7A>G) c.591+7A>G (n.591+7A>G) | dbSNP gnomAD v4 |
| X | g.152862732C= | CA2466152400 | NSDHL | c.543+8C= (n.543+8C=) c.591+8C= (n.591+8C=) | |
| X | g.152862732C>T | CA10544778 | NSDHL | c.543+8C>T (n.543+8C>T) c.591+8C>T (n.591+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152862734T>G | CA10544779 | NSDHL | c.543+10T>G (n.543+10T>G) c.591+10T>G (n.591+10T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.152862734T= | CA2466152401 | NSDHL | c.543+10T= (n.543+10T=) c.591+10T= (n.591+10T=) | |
| X | g.152862735T>G | CA2556366872 | NSDHL | c.543+11T>G (n.543+11T>G) c.591+11T>G (n.591+11T>G) | |
| X | g.152862736G>A | CA2502123636 | NSDHL | c.543+12G>A (n.543+12G>A) c.591+12G>A (n.591+12G>A) |