| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 3 | g.183152471G>A | CA2719441 | LAMP3 | c.792C>T (p.Asp264=) c.720C>T (p.Asp240=) n.852C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152471G>C | CA355321465 | LAMP3 | c.792C>G (p.Asp264Glu) c.720C>G (p.Asp240Glu) n.852C>G | |
| 3 | g.183152471G= | CA1425434293 | LAMP3 | c.792C= (p.Asp264=) c.720C= (p.Asp240=) n.852C= | |
| 3 | g.183152471G>T | CA355321464 | LAMP3 | c.792C>A (p.Asp264Glu) c.720C>A (p.Asp240Glu) n.852C>A | gnomAD v4 |
| 3 | g.183152472T>A | CA355321466 | LAMP3 | c.791A>T (p.Asp264Val) c.719A>T (p.Asp240Val) n.851A>T | |
| 3 | g.183152472T>C | CA355321467 | LAMP3 | c.791A>G (p.Asp264Gly) c.719A>G (p.Asp240Gly) n.851A>G | |
| 3 | g.183152472T>G | CA355321468 | LAMP3 | c.791A>C (p.Asp264Ala) c.719A>C (p.Asp240Ala) n.851A>C | dbSNP |
| 3 | g.183152472T= | CA1425434294 | LAMP3 | c.791A= (p.Asp264=) c.719A= (p.Asp240=) n.851A= | |
| 3 | g.183152473C>A | CA355321469 | LAMP3 | c.790G>T (p.Asp264Tyr) c.718G>T (p.Asp240Tyr) n.850G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152473C= | CA1425434295 | LAMP3 | c.790G= (p.Asp264=) c.718G= (p.Asp240=) n.850G= | |
| 3 | g.183152473C>G | CA355321470 | LAMP3 | c.790G>C (p.Asp264His) c.718G>C (p.Asp240His) n.850G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152473C>T | CA88719923 | LAMP3 | c.790G>A (p.Asp264Asn) c.718G>A (p.Asp240Asn) n.850G>A | dbSNP gnomAD v4 |
| 3 | g.183152474G>A | CA437096306 | LAMP3 | c.789C>T (p.Ile263=) c.717C>T (p.Ile239=) n.849C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152474G>C | CA355321471 | LAMP3 | c.789C>G (p.Ile263Met) c.717C>G (p.Ile239Met) n.849C>G | gnomAD v4 |
| 3 | g.183152474G= | CA1425434296 | LAMP3 | c.789C= (p.Ile263=) c.717C= (p.Ile239=) n.849C= | |
| 3 | g.183152474G>T | CA437096305 | LAMP3 | c.789C>A (p.Ile263=) c.717C>A (p.Ile239=) n.849C>A | |
| 3 | g.183152475A= | CA1425434297 | LAMP3 | c.788T= (p.Ile263=) c.716T= (p.Ile239=) n.848T= | |
| 3 | g.183152475A>C | CA355321473 | LAMP3 | c.788T>G (p.Ile263Ser) c.716T>G (p.Ile239Ser) n.848T>G | |
| 3 | g.183152475A>G | CA355321475 | LAMP3 | c.788T>C (p.Ile263Thr) c.716T>C (p.Ile239Thr) n.848T>C | dbSNP |
| 3 | g.183152475A>T | CA355321477 | LAMP3 | c.788T>A (p.Ile263Asn) c.716T>A (p.Ile239Asn) n.848T>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152476T>A | CA355321479 | LAMP3 | c.787A>T (p.Ile263Phe) c.715A>T (p.Ile239Phe) n.847A>T | |
| 3 | g.183152476T>C | CA355321481 | LAMP3 | c.787A>G (p.Ile263Val) c.715A>G (p.Ile239Val) n.847A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152476T>G | CA355321483 | LAMP3 | c.787A>C (p.Ile263Leu) c.715A>C (p.Ile239Leu) n.847A>C | |
| 3 | g.183152476T= | CA1425434298 | LAMP3 | c.787A= (p.Ile263=) c.715A= (p.Ile239=) n.847A= | |
| 3 | g.183152477G>A | CA437096308 | LAMP3 | c.786C>T (p.Asn262=) c.714C>T (p.Asn238=) n.846C>T | gnomAD v4 |
| 3 | g.183152477G>C | CA355321484 | LAMP3 | c.786C>G (p.Asn262Lys) c.714C>G (p.Asn238Lys) n.846C>G | |
| 3 | g.183152477G>T | CA355321486 | LAMP3 | c.786C>A (p.Asn262Lys) c.714C>A (p.Asn238Lys) n.846C>A | |
| 3 | g.183152478T>A | CA355321489 | LAMP3 | c.785A>T (p.Asn262Ile) c.713A>T (p.Asn238Ile) n.845A>T | |
| 3 | g.183152478T>C | CA355321490 | LAMP3 | c.785A>G (p.Asn262Ser) c.713A>G (p.Asn238Ser) n.845A>G | |
| 3 | g.183152478T>G | CA355321492 | LAMP3 | c.785A>C (p.Asn262Thr) c.713A>C (p.Asn238Thr) n.845A>C | |
| 3 | g.183152479T>A | CA355321495 | LAMP3 | c.784A>T (p.Asn262Tyr) c.712A>T (p.Asn238Tyr) n.844A>T | |
| 3 | g.183152479T>C | CA355321496 | LAMP3 | c.784A>G (p.Asn262Asp) c.712A>G (p.Asn238Asp) n.844A>G | |
| 3 | g.183152479T>G | CA355321498 | LAMP3 | c.784A>C (p.Asn262His) c.712A>C (p.Asn238His) n.844A>C | |
| 3 | g.183152480G>A | CA437096309 | LAMP3 | c.783C>T (p.Phe261=) c.711C>T (p.Phe237=) n.843C>T | |
| 3 | g.183152480G>C | CA355321500 | LAMP3 | c.783C>G (p.Phe261Leu) c.711C>G (p.Phe237Leu) n.843C>G | |
| 3 | g.183152480G>T | CA355321502 | LAMP3 | c.783C>A (p.Phe261Leu) c.711C>A (p.Phe237Leu) n.843C>A | |
| 3 | g.183152481A>C | CA355321504 | LAMP3 | c.782T>G (p.Phe261Cys) c.710T>G (p.Phe237Cys) n.842T>G | |
| 3 | g.183152481A>G | CA355321506 | LAMP3 | c.782T>C (p.Phe261Ser) c.710T>C (p.Phe237Ser) n.842T>C | |
| 3 | g.183152481A>T | CA355321507 | LAMP3 | c.782T>A (p.Phe261Tyr) c.710T>A (p.Phe237Tyr) n.842T>A | |
| 3 | g.183152482A>C | CA355321514 | LAMP3 | c.781T>G (p.Phe261Val) c.709T>G (p.Phe237Val) n.841T>G | |
| 3 | g.183152482A>G | CA355321512 | LAMP3 | c.781T>C (p.Phe261Leu) c.709T>C (p.Phe237Leu) n.841T>C | gnomAD v4 |
| 3 | g.183152482A>T | CA355321510 | LAMP3 | c.781T>A (p.Phe261Ile) c.709T>A (p.Phe237Ile) n.841T>A | |
| 3 | g.183152483G>A | CA437096310 | LAMP3 | c.780C>T (p.Tyr260=) c.708C>T (p.Tyr236=) n.840C>T | |
| 3 | g.183152483G>C | CA355321518 | LAMP3 | c.780C>G (p.Tyr260Ter) c.708C>G (p.Tyr236Ter) n.840C>G | gnomAD v4 |
| 3 | g.183152483G>T | CA355321516 | LAMP3 | c.780C>A (p.Tyr260Ter) c.708C>A (p.Tyr236Ter) n.840C>A | |
| 3 | g.183152484T>A | CA355321519 | LAMP3 | c.779A>T (p.Tyr260Phe) c.707A>T (p.Tyr236Phe) n.839A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152484T>C | CA355321520 | LAMP3 | c.779A>G (p.Tyr260Cys) c.707A>G (p.Tyr236Cys) n.839A>G | |
| 3 | g.183152484T>G | CA355321522 | LAMP3 | c.779A>C (p.Tyr260Ser) c.707A>C (p.Tyr236Ser) n.839A>C | |
| 3 | g.183152484T= | CA1425434299 | LAMP3 | c.779A= (p.Tyr260=) c.707A= (p.Tyr236=) n.839A= | |
| 3 | g.183152485A= | CA1425434300 | LAMP3 | c.778T= (p.Tyr260=) c.706T= (p.Tyr236=) n.838T= | |
| 3 | g.183152485A>C | CA355321525 | LAMP3 | c.778T>G (p.Tyr260Asp) c.706T>G (p.Tyr236Asp) n.838T>G | |
| 3 | g.183152485A>G | CA355321526 | LAMP3 | c.778T>C (p.Tyr260His) c.706T>C (p.Tyr236His) n.838T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152485A>T | CA355321528 | LAMP3 | c.778T>A (p.Tyr260Asn) c.706T>A (p.Tyr236Asn) n.838T>A | |
| 3 | g.183152486T>A | CA355321530 | LAMP3 | c.777A>T (p.Arg259Ser) c.705A>T (p.Arg235Ser) n.837A>T | |
| 3 | g.183152486T>C | CA437096311 | LAMP3 | c.777A>G (p.Arg259=) c.705A>G (p.Arg235=) n.837A>G | |
| 3 | g.183152486T>G | CA355321532 | LAMP3 | c.777A>C (p.Arg259Ser) c.705A>C (p.Arg235Ser) n.837A>C | |
| 3 | g.183152487C>A | CA2719442 | LAMP3 | c.776G>T (p.Arg259Ile) c.704G>T (p.Arg235Ile) n.836G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152487C= | CA1425434301 | LAMP3 | c.776G= (p.Arg259=) c.704G= (p.Arg235=) n.836G= | |
| 3 | g.183152487C>G | CA355321535 | LAMP3 | c.776G>C (p.Arg259Thr) c.704G>C (p.Arg235Thr) n.836G>C | |
| 3 | g.183152487C>T | CA2719443 | LAMP3 | c.776G>A (p.Arg259Lys) c.704G>A (p.Arg235Lys) n.836G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152488T>A | CA355321538 | LAMP3 | c.775A>T (p.Arg259Ter) c.703A>T (p.Arg235Ter) n.835A>T | |
| 3 | g.183152488T>C | CA355321540 | LAMP3 | c.775A>G (p.Arg259Gly) c.703A>G (p.Arg235Gly) n.835A>G | |
| 3 | g.183152488T>G | CA437096312 | LAMP3 | c.775A>C (p.Arg259=) c.703A>C (p.Arg235=) n.835A>C | |
| 3 | g.183152489C>A | CA437096313 | LAMP3 | c.774G>T (p.Arg258=) c.702G>T (p.Arg234=) n.834G>T | |
| 3 | g.183152489C= | CA1425434302 | LAMP3 | c.774G= (p.Arg258=) c.702G= (p.Arg234=) n.834G= | |
| 3 | g.183152489C>G | CA437096314 | LAMP3 | c.774G>C (p.Arg258=) c.702G>C (p.Arg234=) n.834G>C | |
| 3 | g.183152489C>T | CA2719444 | LAMP3 | c.774G>A (p.Arg258=) c.702G>A (p.Arg234=) n.834G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152490C>A | CA2719445 | LAMP3 | c.773G>T (p.Arg258Leu) c.701G>T (p.Arg234Leu) n.833G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152490C= | CA1425434303 | LAMP3 | c.773G= (p.Arg258=) c.701G= (p.Arg234=) n.833G= | |
| 3 | g.183152490C>G | CA355321542 | LAMP3 | c.773G>C (p.Arg258Pro) c.701G>C (p.Arg234Pro) n.833G>C | |
| 3 | g.183152490C>T | CA2719446 | LAMP3 | c.773G>A (p.Arg258Gln) c.701G>A (p.Arg234Gln) n.833G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152491G>A | CA355321545 | LAMP3 | c.772C>T (p.Arg258Trp) c.700C>T (p.Arg234Trp) n.832C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.183152491G>C | CA355321547 | LAMP3 | c.772C>G (p.Arg258Gly) c.700C>G (p.Arg234Gly) n.832C>G | |
| 3 | g.183152491G= | CA1425434304 | LAMP3 | c.772C= (p.Arg258=) c.700C= (p.Arg234=) n.832C= | |
| 3 | g.183152491G>T | CA437096315 | LAMP3 | c.772C>A (p.Arg258=) c.700C>A (p.Arg234=) n.832C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152492A>C | CA437096316 | LAMP3 | c.771T>G (p.Pro257=) c.699T>G (p.Pro233=) n.831T>G | |
| 3 | g.183152492A>G | CA437096318 | LAMP3 | c.771T>C (p.Pro257=) c.699T>C (p.Pro233=) n.831T>C | |
| 3 | g.183152492A>T | CA437096317 | LAMP3 | c.771T>A (p.Pro257=) c.699T>A (p.Pro233=) n.831T>A | |
| 3 | g.183152493G>A | CA355321550 | LAMP3 | c.770C>T (p.Pro257Leu) c.698C>T (p.Pro233Leu) n.830C>T | |
| 3 | g.183152493G>C | CA355321552 | LAMP3 | c.770C>G (p.Pro257Arg) c.698C>G (p.Pro233Arg) n.830C>G | |
| 3 | g.183152493G>T | CA355321554 | LAMP3 | c.770C>A (p.Pro257His) c.698C>A (p.Pro233His) n.830C>A | |
| 3 | g.183152494G>A | CA355321556 | LAMP3 | c.769C>T (p.Pro257Ser) c.697C>T (p.Pro233Ser) n.829C>T | |
| 3 | g.183152494G>C | CA355321558 | LAMP3 | c.769C>G (p.Pro257Ala) c.697C>G (p.Pro233Ala) n.829C>G | |
| 3 | g.183152494G>T | CA355321560 | LAMP3 | c.769C>A (p.Pro257Thr) c.697C>A (p.Pro233Thr) n.829C>A | |
| 3 | g.183152495T>A | CA437096319 | LAMP3 | c.768A>T (p.Ser256=) c.696A>T (p.Ser232=) n.828A>T | gnomAD v4 |
| 3 | g.183152495T>C | CA437096320 | LAMP3 | c.768A>G (p.Ser256=) c.696A>G (p.Ser232=) n.828A>G | |
| 3 | g.183152495T>G | CA437096321 | LAMP3 | c.768A>C (p.Ser256=) c.696A>C (p.Ser232=) n.828A>C | dbSNP |
| 3 | g.183152495T= | CA1425434305 | LAMP3 | c.768A= (p.Ser256=) c.696A= (p.Ser232=) n.828A= | |
| 3 | g.183152496G>A | CA355321562 | LAMP3 | c.767C>T (p.Ser256Leu) c.695C>T (p.Ser232Leu) n.827C>T | COSMIC |
| 3 | g.183152496G>C | CA355321563 | LAMP3 | c.767C>G (p.Ser256Ter) c.695C>G (p.Ser232Ter) n.827C>G | |
| 3 | g.183152496G= | CA1425434306 | LAMP3 | c.767C= (p.Ser256=) c.695C= (p.Ser232=) n.827C= | |
| 3 | g.183152496G>T | CA355321565 | LAMP3 | c.767C>A (p.Ser256Ter) c.695C>A (p.Ser232Ter) n.827C>A | gnomAD v4 |
| 3 | g.183152497A= | CA1425434307 | LAMP3 | c.766T= (p.Ser256=) c.694T= (p.Ser232=) n.826T= | |
| 3 | g.183152497A>C | CA355321569 | LAMP3 | c.766T>G (p.Ser256Ala) c.694T>G (p.Ser232Ala) n.826T>G | |
| 3 | g.183152497A>G | CA88719949 | LAMP3 | c.766T>C (p.Ser256Pro) c.694T>C (p.Ser232Pro) n.826T>C | dbSNP gnomAD v4 |
| 3 | g.183152497A>T | CA355321567 | LAMP3 | c.766T>A (p.Ser256Thr) c.694T>A (p.Ser232Thr) n.826T>A | |
| 3 | g.183152502dup | CA1425434308 | LAMP3 | c.766dup (p.Ser256PhefsTer?) c.694dup (p.Ser232PhefsTer?) n.826dup | dbSNP |
| 3 | g.183152502del | CA2577970280 | LAMP3 | c.766del (p.Ser256HisfsTer28) c.694del (p.Ser232HisfsTer28) n.826del | gnomAD v4 |
| 3 | g.183152498A>C | CA355321572 | LAMP3 | c.765T>G (p.Phe255Leu) c.693T>G (p.Phe231Leu) n.825T>G | gnomAD v4 |
| 3 | g.183152498A>G | CA437096322 | LAMP3 | c.765T>C (p.Phe255=) c.693T>C (p.Phe231=) n.825T>C | |
| 3 | g.183152498A>T | CA355321574 | LAMP3 | c.765T>A (p.Phe255Leu) c.693T>A (p.Phe231Leu) n.825T>A | |
| 3 | g.183152499A= | CA1425434309 | LAMP3 | c.764T= (p.Phe255=) c.692T= (p.Phe231=) n.824T= | |
| 3 | g.183152499A>C | CA355321576 | LAMP3 | c.764T>G (p.Phe255Cys) c.692T>G (p.Phe231Cys) n.824T>G | dbSNP |
| 3 | g.183152499A>G | CA355321578 | LAMP3 | c.764T>C (p.Phe255Ser) c.692T>C (p.Phe231Ser) n.824T>C | gnomAD v4 COSMIC |
| 3 | g.183152499A>T | CA355321579 | LAMP3 | c.764T>A (p.Phe255Tyr) c.692T>A (p.Phe231Tyr) n.824T>A | |
| 3 | g.183152500A>C | CA355321581 | LAMP3 | c.763T>G (p.Phe255Val) c.691T>G (p.Phe231Val) n.823T>G | |
| 3 | g.183152500A>G | CA355321583 | LAMP3 | c.763T>C (p.Phe255Leu) c.691T>C (p.Phe231Leu) n.823T>C | |
| 3 | g.183152500A>T | CA355321585 | LAMP3 | c.763T>A (p.Phe255Ile) c.691T>A (p.Phe231Ile) n.823T>A | |
| 3 | g.183152501A= | CA1425434310 | LAMP3 | c.762T= (p.Val254=) c.690T= (p.Val230=) n.822T= | |
| 3 | g.183152501A>C | CA437096323 | LAMP3 | c.762T>G (p.Val254=) c.690T>G (p.Val230=) n.822T>G | |
| 3 | g.183152501A>G | CA88719952 | LAMP3 | c.762T>C (p.Val254=) c.690T>C (p.Val230=) n.822T>C | dbSNP gnomAD v4 |
| 3 | g.183152501A>T | CA437096324 | LAMP3 | c.762T>A (p.Val254=) c.690T>A (p.Val230=) n.822T>A | |
| 3 | g.183152502A>C | CA355321587 | LAMP3 | c.761T>G (p.Val254Gly) c.689T>G (p.Val230Gly) n.821T>G | COSMIC |
| 3 | g.183152502A>G | CA355321589 | LAMP3 | c.761T>C (p.Val254Ala) c.689T>C (p.Val230Ala) n.821T>C | |
| 3 | g.183152502A>T | CA355321591 | LAMP3 | c.761T>A (p.Val254Asp) c.689T>A (p.Val230Asp) n.821T>A | gnomAD v4 |
| 3 | g.183152503C>A | CA2719447 | LAMP3 | c.760G>T (p.Val254Phe) c.688G>T (p.Val230Phe) n.820G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152503C= | CA1425434311 | LAMP3 | c.760G= (p.Val254=) c.688G= (p.Val230=) n.820G= | |
| 3 | g.183152503C>G | CA355321594 | LAMP3 | c.760G>C (p.Val254Leu) c.688G>C (p.Val230Leu) n.820G>C | |
| 3 | g.183152503C>T | CA355321596 | LAMP3 | c.760G>A (p.Val254Ile) c.688G>A (p.Val230Ile) n.820G>A | |
| 3 | g.183152504C>A | CA355321601 | LAMP3 | c.760-1G>T (n.760-1G>T) c.688-1G>T (n.688-1G>T) n.820-1G>T | |
| 3 | g.183152504C>G | CA355321599 | LAMP3 | c.760-1G>C (n.760-1G>C) c.688-1G>C (n.688-1G>C) n.820-1G>C | COSMIC |
| 3 | g.183152504C>T | CA355321598 | LAMP3 | c.760-1G>A (n.760-1G>A) c.688-1G>A (n.688-1G>A) n.820-1G>A | |
| 3 | g.183152505T>A | CA355321603 | LAMP3 | c.760-2A>T (n.760-2A>T) c.688-2A>T (n.688-2A>T) n.820-2A>T | |
| 3 | g.183152505T>C | CA355321605 | LAMP3 | c.760-2A>G (n.760-2A>G) c.688-2A>G (n.688-2A>G) n.820-2A>G | |
| 3 | g.183152505T>G | CA355321607 | LAMP3 | c.760-2A>C (n.760-2A>C) c.688-2A>C (n.688-2A>C) n.820-2A>C | |
| 3 | g.183152508A= | CA1425434312 | LAMP3 | c.760-5T= (n.760-5T=) c.688-5T= (n.688-5T=) n.820-5T= | |
| 3 | g.183152508A>G | CA903608680 | LAMP3 | c.760-5T>C (n.760-5T>C) c.688-5T>C (n.688-5T>C) n.820-5T>C | dbSNP |
| 3 | g.183152509T>C | CA2759683048 | LAMP3 | c.760-6A>G (n.760-6A>G) c.688-6A>G (n.688-6A>G) n.820-6A>G | |
| 3 | g.183152510C>A | CA2668720117 | LAMP3 | c.760-7G>T (n.760-7G>T) c.688-7G>T (n.688-7G>T) n.820-7G>T | gnomAD v4 |
| 3 | g.183152510C= | CA1425434313 | LAMP3 | c.760-7G= (n.760-7G=) c.688-7G= (n.688-7G=) n.820-7G= | |
| 3 | g.183152510C>T | CA88719957 | LAMP3 | c.760-7G>A (n.760-7G>A) c.688-7G>A (n.688-7G>A) n.820-7G>A | dbSNP |
| 3 | g.183152512A= | CA1425434314 | LAMP3 | c.760-9T= (n.760-9T=) c.688-9T= (n.688-9T=) n.820-9T= | |
| 3 | g.183152512A>G | CA2719448 | LAMP3 | c.760-9T>C (n.760-9T>C) c.688-9T>C (n.688-9T>C) n.820-9T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152512_183152513insACACACCCAACACA | CA2759683049 | LAMP3 | c.760-9_760-8insGTGTTGGGTGTGTT (n.760-9_760-8insGTGTTGGGTGTGTT) c.688-9_688-8insGTGTTGGGTGTGTT (n.688-9_688-8insGTGTTGGGTGTGTT) n.820-9_820-8insGTGTTGGGTGTGTT | |
| 3 | g.183152513G>C | CA88719961 | LAMP3 | c.760-10C>G (n.760-10C>G) c.688-10C>G (n.688-10C>G) n.820-10C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152513G= | CA1425434315 | LAMP3 | c.760-10C= (n.760-10C=) c.688-10C= (n.688-10C=) n.820-10C= | |
| 3 | g.183152515T>C | CA1425434317 | LAMP3 | c.760-12A>G (n.760-12A>G) c.688-12A>G (n.688-12A>G) n.820-12A>G | dbSNP gnomAD v4 |
| 3 | g.183152515T= | CA1425434316 | LAMP3 | c.760-12A= (n.760-12A=) c.688-12A= (n.688-12A=) n.820-12A= | |
| 3 | g.183152519T>C | CA903608686 | LAMP3 | c.760-16A>G (n.760-16A>G) c.688-16A>G (n.688-16A>G) n.820-16A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152519T>G | CA2668720118 | LAMP3 | c.760-16A>C (n.760-16A>C) c.688-16A>C (n.688-16A>C) n.820-16A>C | gnomAD v4 |
| 3 | g.183152519T= | CA1425434318 | LAMP3 | c.760-16A= (n.760-16A=) c.688-16A= (n.688-16A=) n.820-16A= | |
| 3 | g.183152521G>A | CA2577970281 | LAMP3 | c.760-18C>T (n.760-18C>T) c.688-18C>T (n.688-18C>T) n.820-18C>T | gnomAD v4 |
| 3 | g.183152522A= | CA1425434319 | LAMP3 | c.760-19T= (n.760-19T=) c.688-19T= (n.688-19T=) n.820-19T= | |
| 3 | g.183152522A>G | CA2719449 | LAMP3 | c.760-19T>C (n.760-19T>C) c.688-19T>C (n.688-19T>C) n.820-19T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152524del | CA2668720119 | LAMP3 | c.760-21del (n.760-21del) c.688-21del (n.688-21del) n.820-21del | gnomAD v4 |
| 3 | g.183152524C>A | CA2668720120 | LAMP3 | c.760-21G>T (n.760-21G>T) c.688-21G>T (n.688-21G>T) n.820-21G>T | gnomAD v4 |
| 3 | g.183152525A>G | CA2668720121 | LAMP3 | c.760-22T>C (n.760-22T>C) c.688-22T>C (n.688-22T>C) n.820-22T>C | gnomAD v4 |
| 3 | g.183152526G>A | CA88719967 | LAMP3 | c.760-23C>T (n.760-23C>T) c.688-23C>T (n.688-23C>T) n.820-23C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152526G= | CA1425434320 | LAMP3 | c.760-23C= (n.760-23C=) c.688-23C= (n.688-23C=) n.820-23C= | |
| 3 | g.183152527C>A | CA2668720122 | LAMP3 | c.760-24G>T (n.760-24G>T) c.688-24G>T (n.688-24G>T) n.820-24G>T | gnomAD v4 |
| 3 | g.183152529A>C | CA2759683050 | LAMP3 | c.760-26T>G (n.760-26T>G) c.688-26T>G (n.688-26T>G) n.820-26T>G | |
| 3 | g.183152530A= | CA1425434321 | LAMP3 | c.760-27T= (n.760-27T=) c.688-27T= (n.688-27T=) n.820-27T= | |
| 3 | g.183152530A>C | CA1425434322 | LAMP3 | c.760-27T>G (n.760-27T>G) c.688-27T>G (n.688-27T>G) n.820-27T>G | dbSNP |
| 3 | g.183152532T>G | CA2668720123 | LAMP3 | c.760-29A>C (n.760-29A>C) c.688-29A>C (n.688-29A>C) n.820-29A>C | gnomAD v4 |
| 3 | g.183152533G= | CA1425434323 | LAMP3 | c.760-30C= (n.760-30C=) c.688-30C= (n.688-30C=) n.820-30C= | |
| 3 | g.183152533G>T | CA903608691 | LAMP3 | c.760-30C>A (n.760-30C>A) c.688-30C>A (n.688-30C>A) n.820-30C>A | dbSNP gnomAD v4 |
| 3 | g.183152534A>G | CA2759683051 | LAMP3 | c.760-31T>C (n.760-31T>C) c.688-31T>C (n.688-31T>C) n.820-31T>C | |
| 3 | g.183152535G>T | CA2668720124 | LAMP3 | c.760-32C>A (n.760-32C>A) c.688-32C>A (n.688-32C>A) n.820-32C>A | gnomAD v4 |
| 3 | g.183152536A= | CA1425434324 | LAMP3 | c.760-33T= (n.760-33T=) c.688-33T= (n.688-33T=) n.820-33T= | |
| 3 | g.183152536A>C | CA1425434325 | LAMP3 | c.760-33T>G (n.760-33T>G) c.688-33T>G (n.688-33T>G) n.820-33T>G | dbSNP |
| 3 | g.183152536A>G | CA548353112 | LAMP3 | c.760-33T>C (n.760-33T>C) c.688-33T>C (n.688-33T>C) n.820-33T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152536A>T | CA2668720125 | LAMP3 | c.760-33T>A (n.760-33T>A) c.688-33T>A (n.688-33T>A) n.820-33T>A | gnomAD v4 |
| 3 | g.183152537T>A | CA2668720126 | LAMP3 | c.760-34A>T (n.760-34A>T) c.688-34A>T (n.688-34A>T) n.820-34A>T | gnomAD v4 |
| 3 | g.183152537T>C | CA2719451 | LAMP3 | c.760-34A>G (n.760-34A>G) c.688-34A>G (n.688-34A>G) n.820-34A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152537T>G | CA2719450 | LAMP3 | c.760-34A>C (n.760-34A>C) c.688-34A>C (n.688-34A>C) n.820-34A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152537T= | CA1425434326 | LAMP3 | c.760-34A= (n.760-34A=) c.688-34A= (n.688-34A=) n.820-34A= | |
| 3 | g.183152538G>A | CA903608698 | LAMP3 | c.760-35C>T (n.760-35C>T) c.688-35C>T (n.688-35C>T) n.820-35C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.183152538G= | CA1425434327 | LAMP3 | c.760-35C= (n.760-35C=) c.688-35C= (n.688-35C=) n.820-35C= | |
| 3 | g.183152538G>T | CA548353114 | LAMP3 | c.760-35C>A (n.760-35C>A) c.688-35C>A (n.688-35C>A) n.820-35C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.183152539T>A | CA2759683052 | LAMP3 | c.760-36A>T (n.760-36A>T) c.688-36A>T (n.688-36A>T) n.820-36A>T | |
| 3 | g.183152539T>C | CA1425434329 | LAMP3 | c.760-36A>G (n.760-36A>G) c.688-36A>G (n.688-36A>G) n.820-36A>G | dbSNP gnomAD v4 |
| 3 | g.183152539T= | CA1425434328 | LAMP3 | c.760-36A= (n.760-36A=) c.688-36A= (n.688-36A=) n.820-36A= | |
| 3 | g.183152540A>G | CA2759683053 | LAMP3 | c.760-37T>C (n.760-37T>C) c.688-37T>C (n.688-37T>C) n.820-37T>C | |
| 3 | g.183152541G>A | CA2719452 | LAMP3 | c.760-38C>T (n.760-38C>T) c.688-38C>T (n.688-38C>T) n.820-38C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152541G= | CA1425434330 | LAMP3 | c.760-38C= (n.760-38C=) c.688-38C= (n.688-38C=) n.820-38C= | |
| 3 | g.183152542A>C | CA2668720127 | LAMP3 | c.760-39T>G (n.760-39T>G) c.688-39T>G (n.688-39T>G) n.820-39T>G | gnomAD v4 |
| 3 | g.183152542A>G | CA2577970282 | LAMP3 | c.760-39T>C (n.760-39T>C) c.688-39T>C (n.688-39T>C) n.820-39T>C | |
| 3 | g.183152542A>T | CA2546002596 | LAMP3 | c.760-39T>A (n.760-39T>A) c.688-39T>A (n.688-39T>A) n.820-39T>A | |
| 3 | g.183152543G>A | CA2668720128 | LAMP3 | c.760-40C>T (n.760-40C>T) c.688-40C>T (n.688-40C>T) n.820-40C>T | gnomAD v4 |
| 3 | g.183152543G>T | CA2668720129 | LAMP3 | c.760-40C>A (n.760-40C>A) c.688-40C>A (n.688-40C>A) n.820-40C>A | gnomAD v4 |
| 3 | g.183152544dup | CA2668720130 | LAMP3 | c.760-40dup (n.760-40dup) c.688-40dup (n.688-40dup) n.820-40dup | gnomAD v4 |
| 3 | g.183152544G>A | CA2719453 | LAMP3 | c.760-41C>T (n.760-41C>T) c.688-41C>T (n.688-41C>T) n.820-41C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152544G= | CA1425434331 | LAMP3 | c.760-41C= (n.760-41C=) c.688-41C= (n.688-41C=) n.820-41C= | |
| 3 | g.183152544G>T | CA2668720131 | LAMP3 | c.760-41C>A (n.760-41C>A) c.688-41C>A (n.688-41C>A) n.820-41C>A | gnomAD v4 |
| 3 | g.183152545A>T | CA2668720132 | LAMP3 | c.760-42T>A (n.760-42T>A) c.688-42T>A (n.688-42T>A) n.820-42T>A | gnomAD v4 |
| 3 | g.183152548del | CA2577970283 | LAMP3 | c.760-42del (n.760-42del) c.688-42del (n.688-42del) n.820-42del | gnomAD v4 |
| 3 | g.183152546A= | CA1425434332 | LAMP3 | c.760-43T= (n.760-43T=) c.688-43T= (n.688-43T=) n.820-43T= | |
| 3 | g.183152546A>G | CA2719454 | LAMP3 | c.760-43T>C (n.760-43T>C) c.688-43T>C (n.688-43T>C) n.820-43T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152547A>T | CA2668720133 | LAMP3 | c.760-44T>A (n.760-44T>A) c.688-44T>A (n.688-44T>A) n.820-44T>A | gnomAD v4 |
| 3 | g.183152548A>T | CA2668720134 | LAMP3 | c.760-45T>A (n.760-45T>A) c.688-45T>A (n.688-45T>A) n.820-45T>A | gnomAD v4 |
| 3 | g.183152549C>A | CA2668720135 | LAMP3 | c.760-46G>T (n.760-46G>T) c.688-46G>T (n.688-46G>T) n.820-46G>T | gnomAD v4 |
| 3 | g.183152549C>G | CA2668720136 | LAMP3 | c.760-46G>C (n.760-46G>C) c.688-46G>C (n.688-46G>C) n.820-46G>C | gnomAD v4 |
| 3 | g.183152551C>A | CA2668720137 | LAMP3 | c.760-48G>T (n.760-48G>T) c.688-48G>T (n.688-48G>T) n.820-48G>T | gnomAD v4 |
| 3 | g.183152552T>C | CA2719455 | LAMP3 | c.760-49A>G (n.760-49A>G) c.688-49A>G (n.688-49A>G) n.820-49A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.183152552T= | CA1425434333 | LAMP3 | c.760-49A= (n.760-49A=) c.688-49A= (n.688-49A=) n.820-49A= | |
| 3 | g.183152554G>A | CA2719456 | LAMP3 | c.760-51C>T (n.760-51C>T) c.688-51C>T (n.688-51C>T) n.820-51C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.183152554G= | CA1425434334 | LAMP3 | c.760-51C= (n.760-51C=) c.688-51C= (n.688-51C=) n.820-51C= | |
| 3 | g.183152554G>T | CA2668720138 | LAMP3 | c.760-51C>A (n.760-51C>A) c.688-51C>A (n.688-51C>A) n.820-51C>A | gnomAD v4 |