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 |
|---|---|---|---|---|---|
| 1 | g.209629802T>A | CA344592371 | LAMB3 | c.1067A>T (p.Glu356Val) c.875A>T (p.Glu292Val) | |
| 1 | g.209629802T>C | CA344592373 | LAMB3 | c.1067A>G (p.Glu356Gly) c.875A>G (p.Glu292Gly) | gnomAD v4 |
| 1 | g.209629802T>G | CA344592375 | LAMB3 | c.1067A>C (p.Glu356Ala) c.875A>C (p.Glu292Ala) | |
| 1 | g.209629802_209629804del | CA913072634 | LAMB3 | c.1065_1067del (p.Cys355_Glu356delinsTrp) c.873_875del (p.Cys291_Glu292delinsTrp) | |
| 1 | g.209629802_209629804delinsTCA | CA2484300833 | LAMB3 | c.1065_1067delinsTGA (p.Cys355=) c.873_875delinsTGA (p.Cys291=) | |
| 1 | g.209629803C>A | CA344592383 | LAMB3 | c.1066G>T (p.Glu356Ter) c.874G>T (p.Glu292Ter) | gnomAD v4 |
| 1 | g.209629803C= | CA2484300834 | LAMB3 | c.1066G= (p.Glu356=) c.874G= (p.Glu292=) | |
| 1 | g.209629803C>G | CA344592378 | LAMB3 | c.1066G>C (p.Glu356Gln) c.874G>C (p.Glu292Gln) | |
| 1 | g.209629803C>T | CA344592380 | LAMB3 | c.1066G>A (p.Glu356Lys) c.874G>A (p.Glu292Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629805_209629806del | CA658822569 | LAMB3 | c.1065_1066del (p.Cys355Ter) c.873_874del (p.Cys291Ter) | ClinVar dbSNP |
| 1 | g.209629804A>C | CA344592385 | LAMB3 | c.1065T>G (p.Cys355Trp) c.873T>G (p.Cys291Trp) | |
| 1 | g.209629804A>G | CA423032259 | LAMB3 | c.1065T>C (p.Cys355=) c.873T>C (p.Cys291=) | |
| 1 | g.209629804A>T | CA344592387 | LAMB3 | c.1065T>A (p.Cys355Ter) c.873T>A (p.Cys291Ter) | |
| 1 | g.209629805C>A | CA344592390 | LAMB3 | c.1064G>T (p.Cys355Phe) c.872G>T (p.Cys291Phe) | |
| 1 | g.209629805C= | CA2484300835 | LAMB3 | c.1064G= (p.Cys355=) c.872G= (p.Cys291=) | |
| 1 | g.209629805C>G | CA344592392 | LAMB3 | c.1064G>C (p.Cys355Ser) c.872G>C (p.Cys291Ser) | |
| 1 | g.209629805C>T | CA344592395 | LAMB3 | c.1064G>A (p.Cys355Tyr) c.872G>A (p.Cys291Tyr) | dbSNP |
| 1 | g.209629806A= | CA1144662679 | LAMB3 | c.1063T= (p.Cys355=) c.871T= (p.Cys291=) | |
| 1 | g.209629806A>C | CA344592397 | LAMB3 | c.1063T>G (p.Cys355Gly) c.871T>G (p.Cys291Gly) | |
| 1 | g.209629806A>G | CA36758460 | LAMB3 | c.1063T>C (p.Cys355Arg) c.871T>C (p.Cys291Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629806A>T | CA344592400 | LAMB3 | c.1063T>A (p.Cys355Ser) c.871T>A (p.Cys291Ser) | |
| 1 | g.209629807G>A | CA423032260 | LAMB3 | c.1062C>T (p.Asn354=) c.870C>T (p.Asn290=) | gnomAD v4 |
| 1 | g.209629807G>C | CA344592404 | LAMB3 | c.1062C>G (p.Asn354Lys) c.870C>G (p.Asn290Lys) | gnomAD v4 |
| 1 | g.209629807G>T | CA344592405 | LAMB3 | c.1062C>A (p.Asn354Lys) c.870C>A (p.Asn290Lys) | |
| 1 | g.209629807_209629814dup | CA2650323370 | LAMB3 | c.1055_1062dup (p.Cys355AlafsTer?) c.863_870dup (p.Cys291AlafsTer?) | gnomAD v4 |
| 1 | g.209629808T>A | CA344592409 | LAMB3 | c.1061A>T (p.Asn354Ile) c.869A>T (p.Asn290Ile) | |
| 1 | g.209629808T>C | CA344592412 | LAMB3 | c.1061A>G (p.Asn354Ser) c.869A>G (p.Asn290Ser) | |
| 1 | g.209629808T>G | CA344592414 | LAMB3 | c.1061A>C (p.Asn354Thr) c.869A>C (p.Asn290Thr) | |
| 1 | g.209629809T>A | CA344592418 | LAMB3 | c.1060A>T (p.Asn354Tyr) c.868A>T (p.Asn290Tyr) | |
| 1 | g.209629809T>C | CA344592422 | LAMB3 | c.1060A>G (p.Asn354Asp) c.868A>G (p.Asn290Asp) | |
| 1 | g.209629809T>G | CA344592419 | LAMB3 | c.1060A>C (p.Asn354His) c.868A>C (p.Asn290His) | |
| 1 | g.209629810C>A | CA344592424 | LAMB3 | c.1059G>T (p.Lys353Asn) c.867G>T (p.Lys289Asn) | |
| 1 | g.209629810C>G | CA344592426 | LAMB3 | c.1059G>C (p.Lys353Asn) c.867G>C (p.Lys289Asn) | |
| 1 | g.209629810C>T | CA423032261 | LAMB3 | c.1059G>A (p.Lys353=) c.867G>A (p.Lys289=) | gnomAD v4 |
| 1 | g.209629811T>A | CA344592430 | LAMB3 | c.1058A>T (p.Lys353Met) c.866A>T (p.Lys289Met) | |
| 1 | g.209629811T>C | CA344592432 | LAMB3 | c.1058A>G (p.Lys353Arg) c.866A>G (p.Lys289Arg) | gnomAD v4 |
| 1 | g.209629811T>G | CA344592435 | LAMB3 | c.1058A>C (p.Lys353Thr) c.866A>C (p.Lys289Thr) | |
| 1 | g.209629812T>A | CA344592438 | LAMB3 | c.1057A>T (p.Lys353Ter) c.865A>T (p.Lys289Ter) | |
| 1 | g.209629812T>C | CA344592441 | LAMB3 | c.1057A>G (p.Lys353Glu) c.865A>G (p.Lys289Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629812T>G | CA344592442 | LAMB3 | c.1057A>C (p.Lys353Gln) c.865A>C (p.Lys289Gln) | |
| 1 | g.209629812T= | CA2484300836 | LAMB3 | c.1057A= (p.Lys353=) c.865A= (p.Lys289=) | |
| 1 | g.209629813G>A | CA423032262 | LAMB3 | c.1056C>T (p.Gly352=) c.864C>T (p.Gly288=) | gnomAD v4 |
| 1 | g.209629813G>C | CA1375709 | LAMB3 | c.1056C>G (p.Gly352=) c.864C>G (p.Gly288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629813G= | CA1143953351 | LAMB3 | c.1056C= (p.Gly352=) c.864C= (p.Gly288=) | |
| 1 | g.209629813G>T | CA423032263 | LAMB3 | c.1056C>A (p.Gly352=) c.864C>A (p.Gly288=) | |
| 1 | g.209629814C>A | CA344592448 | LAMB3 | c.1055G>T (p.Gly352Val) c.863G>T (p.Gly288Val) | |
| 1 | g.209629814C= | CA2484300837 | LAMB3 | c.1055G= (p.Gly352=) c.863G= (p.Gly288=) | |
| 1 | g.209629814C>G | CA344592450 | LAMB3 | c.1055G>C (p.Gly352Ala) c.863G>C (p.Gly288Ala) | |
| 1 | g.209629814C>T | CA344592452 | LAMB3 | c.1055G>A (p.Gly352Asp) c.863G>A (p.Gly288Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629815C>A | CA344592459 | LAMB3 | c.1054G>T (p.Gly352Cys) c.862G>T (p.Gly288Cys) | |
| 1 | g.209629815C>G | CA344592455 | LAMB3 | c.1054G>C (p.Gly352Arg) c.862G>C (p.Gly288Arg) | |
| 1 | g.209629815C>T | CA344592458 | LAMB3 | c.1054G>A (p.Gly352Ser) c.862G>A (p.Gly288Ser) | |
| 1 | g.209629816T>A | CA344592462 | LAMB3 | c.1053A>T (p.Glu351Asp) c.861A>T (p.Glu287Asp) | |
| 1 | g.209629816T>C | CA423032265 | LAMB3 | c.1053A>G (p.Glu351=) c.861A>G (p.Glu287=) | |
| 1 | g.209629816T>G | CA344592464 | LAMB3 | c.1053A>C (p.Glu351Asp) c.861A>C (p.Glu287Asp) | |
| 1 | g.209629817T>A | CA344592467 | LAMB3 | c.1052A>T (p.Glu351Val) c.860A>T (p.Glu287Val) | |
| 1 | g.209629817T>C | CA344592470 | LAMB3 | c.1052A>G (p.Glu351Gly) c.860A>G (p.Glu287Gly) | |
| 1 | g.209629817T>G | CA344592472 | LAMB3 | c.1052A>C (p.Glu351Ala) c.860A>C (p.Glu287Ala) | |
| 1 | g.209629818C>A | CA344592475 | LAMB3 | c.1051G>T (p.Glu351Ter) c.859G>T (p.Glu287Ter) | dbSNP |
| 1 | g.209629818C= | CA1141430375 | LAMB3 | c.1051G= (p.Glu351=) c.859G= (p.Glu287=) | |
| 1 | g.209629818C>G | CA344592477 | LAMB3 | c.1051G>C (p.Glu351Gln) c.859G>C (p.Glu287Gln) | |
| 1 | g.209629818C>T | CA1375710 | LAMB3 | c.1051G>A (p.Glu351Lys) c.859G>A (p.Glu287Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629819G>A | CA1375711 | LAMB3 | c.1050C>T (p.Thr350=) c.858C>T (p.Thr286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629819G>C | CA423032266 | LAMB3 | c.1050C>G (p.Thr350=) c.858C>G (p.Thr286=) | ClinVar dbSNP |
| 1 | g.209629819G= | CA1141006461 | LAMB3 | c.1050C= (p.Thr350=) c.858C= (p.Thr286=) | |
| 1 | g.209629819G>T | CA423032267 | LAMB3 | c.1050C>A (p.Thr350=) c.858C>A (p.Thr286=) | ClinVar |
| 1 | g.209629820G>A | CA344592484 | LAMB3 | c.1049C>T (p.Thr350Ile) c.857C>T (p.Thr286Ile) | |
| 1 | g.209629820G>C | CA344592486 | LAMB3 | c.1049C>G (p.Thr350Ser) c.857C>G (p.Thr286Ser) | |
| 1 | g.209629820G>T | CA344592488 | LAMB3 | c.1049C>A (p.Thr350Asn) c.857C>A (p.Thr286Asn) | |
| 1 | g.209629821T>A | CA344592493 | LAMB3 | c.1048A>T (p.Thr350Ser) c.856A>T (p.Thr286Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629821T>C | CA344592496 | LAMB3 | c.1048A>G (p.Thr350Ala) c.856A>G (p.Thr286Ala) | |
| 1 | g.209629821T>G | CA344592490 | LAMB3 | c.1048A>C (p.Thr350Pro) c.856A>C (p.Thr286Pro) | gnomAD v4 |
| 1 | g.209629821T= | CA2484300838 | LAMB3 | c.1048A= (p.Thr350=) c.856A= (p.Thr286=) | |
| 1 | g.209629822G>A | CA423032268 | LAMB3 | c.1047C>T (p.His349=) c.855C>T (p.His285=) | |
| 1 | g.209629822G>C | CA344592502 | LAMB3 | c.1047C>G (p.His349Gln) c.855C>G (p.His285Gln) | |
| 1 | g.209629822G>T | CA344592499 | LAMB3 | c.1047C>A (p.His349Gln) c.855C>A (p.His285Gln) | |
| 1 | g.209629823T>A | CA344592509 | LAMB3 | c.1046A>T (p.His349Leu) c.854A>T (p.His285Leu) | |
| 1 | g.209629823T>C | CA344592505 | LAMB3 | c.1046A>G (p.His349Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
| 1 | g.209629823T>G | CA344592507 | LAMB3 | c.1046A>C (p.His349Pro) c.854A>C (p.His285Pro) | |
| 1 | g.209629824G>A | CA344592513 | LAMB3 | c.1045C>T (p.His349Tyr) c.853C>T (p.His285Tyr) | |
| 1 | g.209629824G>C | CA344592515 | LAMB3 | c.1045C>G (p.His349Asp) c.853C>G (p.His285Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629824G= | CA2484300839 | LAMB3 | c.1045C= (p.His349=) c.853C= (p.His285=) | |
| 1 | g.209629824G>T | CA344592517 | LAMB3 | c.1045C>A (p.His349Asn) c.853C>A (p.His285Asn) | gnomAD v4 |
| 1 | g.209629825G>A | CA423032270 | LAMB3 | c.1044C>T (p.Asp348=) c.852C>T (p.Asp284=) | ClinVar gnomAD v4 |
| 1 | g.209629825G>C | CA344592521 | LAMB3 | c.1044C>G (p.Asp348Glu) c.852C>G (p.Asp284Glu) | dbSNP |
| 1 | g.209629825G= | CA2484300840 | LAMB3 | c.1044C= (p.Asp348=) c.852C= (p.Asp284=) | |
| 1 | g.209629825G>T | CA344592523 | LAMB3 | c.1044C>A (p.Asp348Glu) c.852C>A (p.Asp284Glu) | |
| 1 | g.209629826T>A | CA344592526 | LAMB3 | c.1043A>T (p.Asp348Val) c.851A>T (p.Asp284Val) | dbSNP |
| 1 | g.209629826T>C | CA344592528 | LAMB3 | c.1043A>G (p.Asp348Gly) c.851A>G (p.Asp284Gly) | |
| 1 | g.209629826T>G | CA344592529 | LAMB3 | c.1043A>C (p.Asp348Ala) c.851A>C (p.Asp284Ala) | gnomAD v4 |
| 1 | g.209629826T= | CA2484300841 | LAMB3 | c.1043A= (p.Asp348=) c.851A= (p.Asp284=) | |
| 1 | g.209629827C>A | CA344592530 | LAMB3 | c.1042G>T (p.Asp348Tyr) c.850G>T (p.Asp284Tyr) | gnomAD v4 |
| 1 | g.209629827C= | CA2484300842 | LAMB3 | c.1042G= (p.Asp348=) c.850G= (p.Asp284=) | |
| 1 | g.209629827C>G | CA344592532 | LAMB3 | c.1042G>C (p.Asp348His) c.850G>C (p.Asp284His) | |
| 1 | g.209629827C>T | CA344592533 | LAMB3 | c.1042G>A (p.Asp348Asn) c.850G>A (p.Asp284Asn) | dbSNP |
| 1 | g.209629828C>A | CA423032271 | LAMB3 | c.1041G>T (p.Arg347=) c.849G>T (p.Arg283=) | |
| 1 | g.209629828C>G | CA423032272 | LAMB3 | c.1041G>C (p.Arg347=) c.849G>C (p.Arg283=) | ClinVar |
| 1 | g.209629828C>T | CA423032273 | LAMB3 | c.1041G>A (p.Arg347=) c.849G>A (p.Arg283=) | |
| 1 | g.209629829C>A | CA344592536 | LAMB3 | c.1040G>T (p.Arg347Leu) c.848G>T (p.Arg283Leu) | |
| 1 | g.209629829C= | CA1148230017 | LAMB3 | c.1040G= (p.Arg347=) c.848G= (p.Arg283=) | |
| 1 | g.209629829C>G | CA344592539 | LAMB3 | c.1040G>C (p.Arg347Pro) c.848G>C (p.Arg283Pro) | |
| 1 | g.209629829C>T | CA1375712 | LAMB3 | c.1040G>A (p.Arg347Gln) c.848G>A (p.Arg283Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629830G>A | CA1375713 | LAMB3 | c.1039C>T (p.Arg347Trp) c.847C>T (p.Arg283Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629830G>C | CA1375714 | LAMB3 | c.1039C>G (p.Arg347Gly) c.847C>G (p.Arg283Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629830G= | CA1144076748 | LAMB3 | c.1039C= (p.Arg347=) c.847C= (p.Arg283=) | |
| 1 | g.209629830G>T | CA423032274 | LAMB3 | c.1039C>A (p.Arg347=) c.847C>A (p.Arg283=) | dbSNP |
| 1 | g.209629831G>A | CA1375715 | LAMB3 | c.1038C>T (p.Cys346=) c.846C>T (p.Cys282=) | dbSNP ExAC gnomAD v2 |
| 1 | g.209629831G>C | CA344592540 | LAMB3 | c.1038C>G (p.Cys346Trp) c.846C>G (p.Cys282Trp) | |
| 1 | g.209629831G= | CA1149068135 | LAMB3 | c.1038C= (p.Cys346=) c.846C= (p.Cys282=) | |
| 1 | g.209629831G>T | CA344592541 | LAMB3 | c.1038C>A (p.Cys346Ter) c.846C>A (p.Cys282Ter) | |
| 1 | g.209629832C>A | CA344592542 | LAMB3 | c.1037G>T (p.Cys346Phe) c.845G>T (p.Cys282Phe) | gnomAD v4 |
| 1 | g.209629832C>G | CA344592543 | LAMB3 | c.1037G>C (p.Cys346Ser) c.845G>C (p.Cys282Ser) | |
| 1 | g.209629832C>T | CA344592544 | LAMB3 | c.1037G>A (p.Cys346Tyr) c.845G>A (p.Cys282Tyr) | gnomAD v4 |
| 1 | g.209629833A>C | CA344592545 | LAMB3 | c.1036T>G (p.Cys346Gly) c.844T>G (p.Cys282Gly) | COSMIC |
| 1 | g.209629833A>G | CA344592546 | LAMB3 | c.1036T>C (p.Cys346Arg) c.844T>C (p.Cys282Arg) | |
| 1 | g.209629833A>T | CA344592547 | LAMB3 | c.1036T>A (p.Cys346Ser) c.844T>A (p.Cys282Ser) | |
| 1 | g.209629834A= | CA2484300843 | LAMB3 | c.1035T= (p.Asn345=) c.843T= (p.Asn281=) | |
| 1 | g.209629834A>C | CA344592548 | LAMB3 | c.1035T>G (p.Asn345Lys) c.843T>G (p.Asn281Lys) | |
| 1 | g.209629834A>G | CA423032275 | LAMB3 | c.1035T>C (p.Asn345=) c.843T>C (p.Asn281=) | |
| 1 | g.209629834A>T | CA344592549 | LAMB3 | c.1035T>A (p.Asn345Lys) c.843T>A (p.Asn281Lys) | |
| 1 | g.209629835T>A | CA344592550 | LAMB3 | c.1034A>T (p.Asn345Ile) c.842A>T (p.Asn281Ile) | |
| 1 | g.209629835T>C | CA344592551 | LAMB3 | c.1034A>G (p.Asn345Ser) c.842A>G (p.Asn281Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629835T>G | CA1375716 | LAMB3 | c.1034A>C (p.Asn345Thr) c.842A>C (p.Asn281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629835T= | CA2484300844 | LAMB3 | c.1034A= (p.Asn345=) c.842A= (p.Asn281=) | |
| 1 | g.209629860_209629861insATGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCCTTGTCACACACACCTCCATATGCCCC | CA1011768218 | LAMB3 | c.1034_1035insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn345LysfsTer?) c.842_843insGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCATGGGGCATATGGAGGTGTGTGTGACAA (p.Asn281LysfsTer?) | gnomAD v3 gnomAD v4 |
| 1 | g.209629835_209629911dup | CA10602754 | LAMB3 | c.958_1034dup (p.Asn345LysfsTer?) c.766_842dup (p.Asn281LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629836T>A | CA344592552 | LAMB3 | c.1033A>T (p.Asn345Tyr) c.841A>T (p.Asn281Tyr) | gnomAD v4 |
| 1 | g.209629836T>C | CA344592553 | LAMB3 | c.1033A>G (p.Asn345Asp) c.841A>G (p.Asn281Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629836T>G | CA36758488 | LAMB3 | c.1033A>C (p.Asn345His) c.841A>C (p.Asn281His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629836T= | CA2484300845 | LAMB3 | c.1033A= (p.Asn345=) c.841A= (p.Asn281=) | |
| 1 | g.209629837G>A | CA423032276 | LAMB3 | c.1032C>T (p.Asp344=) c.840C>T (p.Asp280=) | |
| 1 | g.209629837G>C | CA344592554 | LAMB3 | c.1032C>G (p.Asp344Glu) c.840C>G (p.Asp280Glu) | |
| 1 | g.209629837G>T | CA344592555 | LAMB3 | c.1032C>A (p.Asp344Glu) c.840C>A (p.Asp280Glu) | |
| 1 | g.209629838T>A | CA344592556 | LAMB3 | c.1031A>T (p.Asp344Val) c.839A>T (p.Asp280Val) | |
| 1 | g.209629838T>C | CA344592557 | LAMB3 | c.1031A>G (p.Asp344Gly) c.839A>G (p.Asp280Gly) | |
| 1 | g.209629838T>G | CA344592558 | LAMB3 | c.1031A>C (p.Asp344Ala) c.839A>C (p.Asp280Ala) | |
| 1 | g.209629838T= | CA2484300846 | LAMB3 | c.1031A= (p.Asp344=) c.839A= (p.Asp280=) | |
| 1 | g.209629839C>A | CA344592561 | LAMB3 | c.1030G>T (p.Asp344Tyr) c.838G>T (p.Asp280Tyr) | |
| 1 | g.209629839C= | CA2484300847 | LAMB3 | c.1030G= (p.Asp344=) c.838G= (p.Asp280=) | |
| 1 | g.209629839C>G | CA344592559 | LAMB3 | c.1030G>C (p.Asp344His) c.838G>C (p.Asp280His) | |
| 1 | g.209629839C>T | CA344592560 | LAMB3 | c.1030G>A (p.Asp344Asn) c.838G>A (p.Asp280Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629846_209629847dup | CA16040696 | LAMB3 | c.1029_1030dup (p.Asp344ValfsTer?) c.837_838dup (p.Asp280ValfsTer?) | ClinVar dbSNP |
| 1 | g.209629846_209629847del | CA2697554893 | LAMB3 | c.1029_1030del (p.Cys343Ter) c.837_838del (p.Cys279Ter) | ClinVar dbSNP |
| 1 | g.209629839_209629840insTGTT | CA2569788114 | LAMB3 | c.1029_1030insAACA (p.Asp344AsnfsTer14) c.837_838insAACA (p.Asp280AsnfsTer14) | |
| 1 | g.209629840A= | CA2484300848 | LAMB3 | c.1029T= (p.Cys343=) c.837T= (p.Cys279=) | |
| 1 | g.209629840A>C | CA344592562 | LAMB3 | c.1029T>G (p.Cys343Trp) c.837T>G (p.Cys279Trp) | |
| 1 | g.209629840A>G | CA423032278 | LAMB3 | c.1029T>C (p.Cys343=) c.837T>C (p.Cys279=) | |
| 1 | g.209629840A>T | CA16040697 | LAMB3 | c.1029T>A (p.Cys343Ter) c.837T>A (p.Cys279Ter) | ClinVar dbSNP |
| 1 | g.209629841C>A | CA344592563 | LAMB3 | c.1028G>T (p.Cys343Phe) c.836G>T (p.Cys279Phe) | |
| 1 | g.209629841C>G | CA344592564 | LAMB3 | c.1028G>C (p.Cys343Ser) c.836G>C (p.Cys279Ser) | |
| 1 | g.209629841C>T | CA344592565 | LAMB3 | c.1028G>A (p.Cys343Tyr) c.836G>A (p.Cys279Tyr) | |
| 1 | g.209629842A>C | CA344592566 | LAMB3 | c.1027T>G (p.Cys343Gly) c.835T>G (p.Cys279Gly) | |
| 1 | g.209629842A>G | CA344592567 | LAMB3 | c.1027T>C (p.Cys343Arg) c.835T>C (p.Cys279Arg) | |
| 1 | g.209629842A>T | CA344592568 | LAMB3 | c.1027T>A (p.Cys343Ser) c.835T>A (p.Cys279Ser) | |
| 1 | g.209629843C>A | CA423032282 | LAMB3 | c.1026G>T (p.Val342=) c.834G>T (p.Val278=) | |
| 1 | g.209629843C>G | CA423032283 | LAMB3 | c.1026G>C (p.Val342=) c.834G>C (p.Val278=) | |
| 1 | g.209629843C>T | CA423032285 | LAMB3 | c.1026G>A (p.Val342=) c.834G>A (p.Val278=) | |
| 1 | g.209629844A>C | CA344592569 | LAMB3 | c.1025T>G (p.Val342Gly) c.833T>G (p.Val278Gly) | |
| 1 | g.209629844A>G | CA344592570 | LAMB3 | c.1025T>C (p.Val342Ala) c.833T>C (p.Val278Ala) | |
| 1 | g.209629844A>T | CA344592571 | LAMB3 | c.1025T>A (p.Val342Glu) c.833T>A (p.Val278Glu) | |
| 1 | g.209629845C>A | CA344592573 | LAMB3 | c.1024G>T (p.Val342Leu) c.832G>T (p.Val278Leu) | |
| 1 | g.209629845C>G | CA344592574 | LAMB3 | c.1024G>C (p.Val342Leu) c.832G>C (p.Val278Leu) | |
| 1 | g.209629845C>T | CA344592572 | LAMB3 | c.1024G>A (p.Val342Met) c.832G>A (p.Val278Met) | |
| 1 | g.209629846A>C | CA423032286 | LAMB3 | c.1023T>G (p.Gly341=) c.831T>G (p.Gly277=) | |
| 1 | g.209629846A>G | CA423032288 | LAMB3 | c.1023T>C (p.Gly341=) c.831T>C (p.Gly277=) | COSMIC |
| 1 | g.209629846A>T | CA423032289 | LAMB3 | c.1023T>A (p.Gly341=) c.831T>A (p.Gly277=) | |
| 1 | g.209629847C>A | CA344592577 | LAMB3 | c.1022G>T (p.Gly341Val) c.830G>T (p.Gly277Val) | |
| 1 | g.209629847C>G | CA344592575 | LAMB3 | c.1022G>C (p.Gly341Ala) c.830G>C (p.Gly277Ala) | |
| 1 | g.209629847C>T | CA344592576 | LAMB3 | c.1022G>A (p.Gly341Asp) c.830G>A (p.Gly277Asp) | |
| 1 | g.209629848C>A | CA344592578 | LAMB3 | c.1021G>T (p.Gly341Cys) c.829G>T (p.Gly277Cys) | |
| 1 | g.209629848C>G | CA344592579 | LAMB3 | c.1021G>C (p.Gly341Arg) c.829G>C (p.Gly277Arg) | |
| 1 | g.209629848C>T | CA344592580 | LAMB3 | c.1021G>A (p.Gly341Ser) c.829G>A (p.Gly277Ser) | |
| 1 | g.209629849T>A | CA423032292 | LAMB3 | c.1020A>T (p.Gly340=) c.828A>T (p.Gly276=) | |
| 1 | g.209629849T>C | CA423032293 | LAMB3 | c.1020A>G (p.Gly340=) c.828A>G (p.Gly276=) | |
| 1 | g.209629849T>G | CA423032294 | LAMB3 | c.1020A>C (p.Gly340=) c.828A>C (p.Gly276=) | |
| 1 | g.209629850C>A | CA344592581 | LAMB3 | c.1019G>T (p.Gly340Val) c.827G>T (p.Gly276Val) | |
| 1 | g.209629850C>G | CA344592582 | LAMB3 | c.1019G>C (p.Gly340Ala) c.827G>C (p.Gly276Ala) | |
| 1 | g.209629850C>T | CA344592583 | LAMB3 | c.1019G>A (p.Gly340Glu) c.827G>A (p.Gly276Glu) | |
| 1 | g.209629851C>A | CA344592584 | LAMB3 | c.1018G>T (p.Gly340Ter) c.826G>T (p.Gly276Ter) | |
| 1 | g.209629851C= | CA2484300849 | LAMB3 | c.1018G= (p.Gly340=) c.826G= (p.Gly276=) | |
| 1 | g.209629851C>G | CA344592585 | LAMB3 | c.1018G>C (p.Gly340Arg) c.826G>C (p.Gly276Arg) | |
| 1 | g.209629851C>T | CA344592586 | LAMB3 | c.1018G>A (p.Gly340Arg) c.826G>A (p.Gly276Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629852A= | CA2484300850 | LAMB3 | c.1017T= (p.Tyr339=) c.825T= (p.Tyr275=) | |
| 1 | g.209629852A>C | CA1375717 | LAMB3 | c.1017T>G (p.Tyr339Ter) c.825T>G (p.Tyr275Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629852A>G | CA423032298 | LAMB3 | c.1017T>C (p.Tyr339=) c.825T>C (p.Tyr275=) | COSMIC |
| 1 | g.209629852A>T | CA344592587 | LAMB3 | c.1017T>A (p.Tyr339Ter) c.825T>A (p.Tyr275Ter) | |
| 1 | g.209629853T>A | CA344592589 | LAMB3 | c.1016A>T (p.Tyr339Phe) c.824A>T (p.Tyr275Phe) | |
| 1 | g.209629853T>C | CA1375718 | LAMB3 | c.1016A>G (p.Tyr339Cys) c.824A>G (p.Tyr275Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629853T>G | CA344592588 | LAMB3 | c.1016A>C (p.Tyr339Ser) c.824A>C (p.Tyr275Ser) | |
| 1 | g.209629853T= | CA1148448106 | LAMB3 | c.1016A= (p.Tyr339=) c.824A= (p.Tyr275=) | |
| 1 | g.209629854A= | CA1140616900 | LAMB3 | c.1015T= (p.Tyr339=) c.823T= (p.Tyr275=) | |
| 1 | g.209629854A>C | CA344592590 | LAMB3 | c.1015T>G (p.Tyr339Asp) c.823T>G (p.Tyr275Asp) | |
| 1 | g.209629854A>G | CA1375719 | LAMB3 | c.1015T>C (p.Tyr339His) c.823T>C (p.Tyr275His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629854A>T | CA344592591 | LAMB3 | c.1015T>A (p.Tyr339Asn) c.823T>A (p.Tyr275Asn) | |
| 1 | g.209629855T>A | CA423032301 | LAMB3 | c.1014A>T (p.Ala338=) c.822A>T (p.Ala274=) | |
| 1 | g.209629855T>C | CA423032303 | LAMB3 | c.1014A>G (p.Ala338=) c.822A>G (p.Ala274=) | |
| 1 | g.209629855T>G | CA423032305 | LAMB3 | c.1014A>C (p.Ala338=) c.822A>C (p.Ala274=) | |
| 1 | g.209629856G>A | CA344592592 | LAMB3 | c.1013C>T (p.Ala338Val) c.821C>T (p.Ala274Val) | |
| 1 | g.209629856G>C | CA344592593 | LAMB3 | c.1013C>G (p.Ala338Gly) c.821C>G (p.Ala274Gly) | |
| 1 | g.209629856G= | CA2484300852 | LAMB3 | c.1013C= (p.Ala338=) c.821C= (p.Ala274=) | |
| 1 | g.209629856G>T | CA344592594 | LAMB3 | c.1013C>A (p.Ala338Glu) c.821C>A (p.Ala274Glu) | dbSNP |
| 1 | g.209629856_209629857delinsGC | CA2484300851 | LAMB3 | c.1012_1013delinsGC (p.Ala338=) c.820_821delinsGC (p.Ala274=) | |
| 1 | g.209629857C>A | CA344592595 | LAMB3 | c.1012G>T (p.Ala338Ser) c.820G>T (p.Ala274Ser) | dbSNP gnomAD v4 |
| 1 | g.209629857C= | CA2484300853 | LAMB3 | c.1012G= (p.Ala338=) c.820G= (p.Ala274=) | |
| 1 | g.209629857C>G | CA344592597 | LAMB3 | c.1012G>C (p.Ala338Pro) c.820G>C (p.Ala274Pro) | |
| 1 | g.209629857C>T | CA344592600 | LAMB3 | c.1012G>A (p.Ala338Thr) c.820G>A (p.Ala274Thr) | gnomAD v4 |
| 1 | g.209629861del | CA529000297 | LAMB3 | c.1012del (p.Ala338HisfsTer?) c.820del (p.Ala274HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629858C>A | CA423032307 | LAMB3 | c.1011G>T (p.Gly337=) c.819G>T (p.Gly273=) | |
| 1 | g.209629858C>G | CA423032309 | LAMB3 | c.1011G>C (p.Gly337=) c.819G>C (p.Gly273=) | |
| 1 | g.209629858C>T | CA423032310 | LAMB3 | c.1011G>A (p.Gly337=) c.819G>A (p.Gly273=) | gnomAD v4 |
| 1 | g.209629859C>A | CA344592603 | LAMB3 | c.1010G>T (p.Gly337Val) c.818G>T (p.Gly273Val) | |
| 1 | g.209629859C= | CA2484300854 | LAMB3 | c.1010G= (p.Gly337=) c.818G= (p.Gly273=) | |
| 1 | g.209629859C>G | CA344592605 | LAMB3 | c.1010G>C (p.Gly337Ala) c.818G>C (p.Gly273Ala) | |
| 1 | g.209629859C>T | CA344592606 | LAMB3 | c.1010G>A (p.Gly337Glu) c.818G>A (p.Gly273Glu) | dbSNP |
| 1 | g.209629860C>A | CA344592613 | LAMB3 | c.1009G>T (p.Gly337Trp) c.817G>T (p.Gly273Trp) | |
| 1 | g.209629860C= | CA2484300855 | LAMB3 | c.1009G= (p.Gly337=) c.817G= (p.Gly273=) | |
| 1 | g.209629860C>G | CA344592610 | LAMB3 | c.1009G>C (p.Gly337Arg) c.817G>C (p.Gly273Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629860C>T | CA344592608 | LAMB3 | c.1009G>A (p.Gly337Arg) c.817G>A (p.Gly273Arg) | |
| 1 | g.209629861C>A | CA344592616 | LAMB3 | c.1008G>T (p.Gln336His) c.816G>T (p.Gln272His) | |
| 1 | g.209629861C= | CA1141400395 | LAMB3 | c.1008G= (p.Gln336=) c.816G= (p.Gln272=) | |
| 1 | g.209629861C>G | CA344592618 | LAMB3 | c.1008G>C (p.Gln336His) c.816G>C (p.Gln272His) | gnomAD v4 |
| 1 | g.209629861C>T | CA1375720 | LAMB3 | c.1008G>A (p.Gln336=) c.816G>A (p.Gln272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629861_209629862delinsCT | CA2484300856 | LAMB3 | c.1007_1008delinsAG (p.Gln336=) c.815_816delinsAG (p.Gln272=) | |
| 1 | g.209629862del | CA16040698 | LAMB3 | c.1007del (p.Gln336ArgfsTer?) c.815del (p.Gln272ArgfsTer?) | ClinVar dbSNP |
| 1 | g.209629862T>A | CA344592624 | LAMB3 | c.1007A>T (p.Gln336Leu) c.815A>T (p.Gln272Leu) | |
| 1 | g.209629862T>C | CA1375721 | LAMB3 | c.1007A>G (p.Gln336Arg) c.815A>G (p.Gln272Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629862T>G | CA344592626 | LAMB3 | c.1007A>C (p.Gln336Pro) c.815A>C (p.Gln272Pro) | |
| 1 | g.209629862T= | CA2484300857 | LAMB3 | c.1007A= (p.Gln336=) c.815A= (p.Gln272=) | |
| 1 | g.209629863G>A | CA344592636 | LAMB3 | c.1006C>T (p.Gln336Ter) c.814C>T (p.Gln272Ter) | |
| 1 | g.209629863G>C | CA344592631 | LAMB3 | c.1006C>G (p.Gln336Glu) c.814C>G (p.Gln272Glu) | |
| 1 | g.209629863G>T | CA344592633 | LAMB3 | c.1006C>A (p.Gln336Lys) c.814C>A (p.Gln272Lys) | |
| 1 | g.209629864G>A | CA423032315 | LAMB3 | c.1005C>T (p.Ser335=) c.813C>T (p.Ser271=) | |
| 1 | g.209629864G>C | CA344592639 | LAMB3 | c.1005C>G (p.Ser335Arg) c.813C>G (p.Ser271Arg) | |
| 1 | g.209629864G>T | CA344592641 | LAMB3 | c.1005C>A (p.Ser335Arg) c.813C>A (p.Ser271Arg) | |
| 1 | g.209629865C>A | CA344592643 | LAMB3 | c.1004G>T (p.Ser335Ile) c.812G>T (p.Ser271Ile) | gnomAD v4 COSMIC |
| 1 | g.209629865C>G | CA344592645 | LAMB3 | c.1004G>C (p.Ser335Thr) c.812G>C (p.Ser271Thr) | |
| 1 | g.209629865C>T | CA344592647 | LAMB3 | c.1004G>A (p.Ser335Asn) c.812G>A (p.Ser271Asn) | |
| 1 | g.209629866T>A | CA344592650 | LAMB3 | c.1003A>T (p.Ser335Cys) c.811A>T (p.Ser271Cys) | gnomAD v4 |
| 1 | g.209629866T>C | CA344592654 | LAMB3 | c.1003A>G (p.Ser335Gly) c.811A>G (p.Ser271Gly) | |
| 1 | g.209629866T>G | CA344592652 | LAMB3 | c.1003A>C (p.Ser335Arg) c.811A>C (p.Ser271Arg) | |
| 1 | g.209629867G>A | CA423032320 | LAMB3 | c.1002C>T (p.Ala334=) c.810C>T (p.Ala270=) | ClinVar dbSNP |
| 1 | g.209629867G>C | CA423032322 | LAMB3 | c.1002C>G (p.Ala334=) c.810C>G (p.Ala270=) | |
| 1 | g.209629867G>T | CA423032324 | LAMB3 | c.1002C>A (p.Ala334=) c.810C>A (p.Ala270=) | |
| 1 | g.209629868G>A | CA344592659 | LAMB3 | c.1001C>T (p.Ala334Val) c.809C>T (p.Ala270Val) | |
| 1 | g.209629868G>C | CA344592662 | LAMB3 | c.1001C>G (p.Ala334Gly) c.809C>G (p.Ala270Gly) | |
| 1 | g.209629868G>T | CA344592665 | LAMB3 | c.1001C>A (p.Ala334Asp) c.809C>A (p.Ala270Asp) | |
| 1 | g.209629869C>A | CA344592669 | LAMB3 | c.1000G>T (p.Ala334Ser) c.808G>T (p.Ala270Ser) | |
| 1 | g.209629869C= | CA2484300858 | LAMB3 | c.1000G= (p.Ala334=) c.808G= (p.Ala270=) | |
| 1 | g.209629869C>G | CA344592672 | LAMB3 | c.1000G>C (p.Ala334Pro) c.808G>C (p.Ala270Pro) | |
| 1 | g.209629869C>T | CA36758504 | LAMB3 | c.1000G>A (p.Ala334Thr) c.808G>A (p.Ala270Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629870G>A | CA423032330 | LAMB3 | c.999C>T (p.Ala333=) c.807C>T (p.Ala269=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629870G>C | CA423032329 | LAMB3 | c.999C>G (p.Ala333=) c.807C>G (p.Ala269=) | |
| 1 | g.209629870G= | CA2484300859 | LAMB3 | c.999C= (p.Ala333=) c.807C= (p.Ala269=) | |
| 1 | g.209629870G>T | CA423032327 | LAMB3 | c.999C>A (p.Ala333=) c.807C>A (p.Ala269=) | |
| 1 | g.209629871G>A | CA344592676 | LAMB3 | c.998C>T (p.Ala333Val) c.806C>T (p.Ala269Val) | |
| 1 | g.209629871G>C | CA344592679 | LAMB3 | c.998C>G (p.Ala333Gly) c.806C>G (p.Ala269Gly) | |
| 1 | g.209629871G>T | CA344592682 | LAMB3 | c.998C>A (p.Ala333Asp) c.806C>A (p.Ala269Asp) | |
| 1 | g.209629872C>A | CA344592686 | LAMB3 | c.997G>T (p.Ala333Ser) c.805G>T (p.Ala269Ser) | |
| 1 | g.209629872C>G | CA344592689 | LAMB3 | c.997G>C (p.Ala333Pro) c.805G>C (p.Ala269Pro) | |
| 1 | g.209629872C>T | CA344592692 | LAMB3 | c.997G>A (p.Ala333Thr) c.805G>A (p.Ala269Thr) | |
| 1 | g.209629873A>C | CA344592697 | LAMB3 | c.996T>G (p.Phe332Leu) c.804T>G (p.Phe268Leu) | |
| 1 | g.209629873A>G | CA423032334 | LAMB3 | c.996T>C (p.Phe332=) c.804T>C (p.Phe268=) | |
| 1 | g.209629873A>T | CA344592695 | LAMB3 | c.996T>A (p.Phe332Leu) c.804T>A (p.Phe268Leu) | |
| 1 | g.209629874A>C | CA344592708 | LAMB3 | c.995T>G (p.Phe332Cys) c.803T>G (p.Phe268Cys) | |
| 1 | g.209629874A>G | CA344592713 | LAMB3 | c.995T>C (p.Phe332Ser) c.803T>C (p.Phe268Ser) | |
| 1 | g.209629874A>T | CA344592711 | LAMB3 | c.995T>A (p.Phe332Tyr) c.803T>A (p.Phe268Tyr) | |
| 1 | g.209629875A>C | CA344592716 | LAMB3 | c.994T>G (p.Phe332Val) c.802T>G (p.Phe268Val) | |
| 1 | g.209629875A>G | CA344592721 | LAMB3 | c.994T>C (p.Phe332Leu) c.802T>C (p.Phe268Leu) | gnomAD v4 |
| 1 | g.209629875A>T | CA344592719 | LAMB3 | c.994T>A (p.Phe332Ile) c.802T>A (p.Phe268Ile) | |
| 1 | g.209629876C>A | CA423032338 | LAMB3 | c.993G>T (p.Val331=) c.801G>T (p.Val267=) | |
| 1 | g.209629876C>G | CA423032339 | LAMB3 | c.993G>C (p.Val331=) c.801G>C (p.Val267=) | |
| 1 | g.209629876C>T | CA423032340 | LAMB3 | c.993G>A (p.Val331=) c.801G>A (p.Val267=) | ClinVar gnomAD v4 COSMIC |
| 1 | g.209629877A>C | CA344592725 | LAMB3 | c.992T>G (p.Val331Gly) c.800T>G (p.Val267Gly) | |
| 1 | g.209629877A>G | CA344592727 | LAMB3 | c.992T>C (p.Val331Ala) c.800T>C (p.Val267Ala) | |
| 1 | g.209629877A>T | CA344592730 | LAMB3 | c.992T>A (p.Val331Glu) c.800T>A (p.Val267Glu) | |
| 1 | g.209629878C>A | CA344592733 | LAMB3 | c.991G>T (p.Val331Leu) c.799G>T (p.Val267Leu) | |
| 1 | g.209629878C>G | CA344592736 | LAMB3 | c.991G>C (p.Val331Leu) c.799G>C (p.Val267Leu) | |
| 1 | g.209629878C>T | CA344592738 | LAMB3 | c.991G>A (p.Val331Met) c.799G>A (p.Val267Met) | |
| 1 | g.209629879A>C | CA423032341 | LAMB3 | c.990T>G (p.Ala330=) c.798T>G (p.Ala266=) | |
| 1 | g.209629879A>G | CA423032343 | LAMB3 | c.990T>C (p.Ala330=) c.798T>C (p.Ala266=) | |
| 1 | g.209629879A>T | CA423032345 | LAMB3 | c.990T>A (p.Ala330=) c.798T>A (p.Ala266=) | |
| 1 | g.209629880G>A | CA36758505 | LAMB3 | c.989C>T (p.Ala330Val) c.797C>T (p.Ala266Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629880G>C | CA344592745 | LAMB3 | c.989C>G (p.Ala330Gly) c.797C>G (p.Ala266Gly) | |
| 1 | g.209629880G= | CA2484300860 | LAMB3 | c.989C= (p.Ala330=) c.797C= (p.Ala266=) | |
| 1 | g.209629880G>T | CA344592742 | LAMB3 | c.989C>A (p.Ala330Asp) c.797C>A (p.Ala266Asp) | COSMIC |
| 1 | g.209629881C>A | CA1375723 | LAMB3 | c.988G>T (p.Ala330Ser) c.796G>T (p.Ala266Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629881C= | CA1146400229 | LAMB3 | c.988G= (p.Ala330=) c.796G= (p.Ala266=) | |
| 1 | g.209629881C>G | CA344592751 | LAMB3 | c.988G>C (p.Ala330Pro) c.796G>C (p.Ala266Pro) | |
| 1 | g.209629881C>T | CA1375722 | LAMB3 | c.988G>A (p.Ala330Thr) c.796G>A (p.Ala266Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629882G>A | CA36758509 | LAMB3 | c.987C>T (p.Pro329=) c.795C>T (p.Pro265=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629882G>C | CA423032348 | LAMB3 | c.987C>G (p.Pro329=) c.795C>G (p.Pro265=) | |
| 1 | g.209629882G= | CA2484300861 | LAMB3 | c.987C= (p.Pro329=) c.795C= (p.Pro265=) | |
| 1 | g.209629882G>T | CA423032349 | LAMB3 | c.987C>A (p.Pro329=) c.795C>A (p.Pro265=) | gnomAD v4 |
| 1 | g.209629883G>A | CA1375724 | LAMB3 | c.986C>T (p.Pro329Leu) c.794C>T (p.Pro265Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209629883G>C | CA344592757 | LAMB3 | c.986C>G (p.Pro329Arg) c.794C>G (p.Pro265Arg) | |
| 1 | g.209629883G= | CA1147327242 | LAMB3 | c.986C= (p.Pro329=) c.794C= (p.Pro265=) | |
| 1 | g.209629883G>T | CA344592759 | LAMB3 | c.986C>A (p.Pro329His) c.794C>A (p.Pro265His) | |
| 1 | g.209629884G>A | CA344592763 | LAMB3 | c.985C>T (p.Pro329Ser) c.793C>T (p.Pro265Ser) | |
| 1 | g.209629884G>C | CA344592766 | LAMB3 | c.985C>G (p.Pro329Ala) c.793C>G (p.Pro265Ala) | |
| 1 | g.209629884G>T | CA344592765 | LAMB3 | c.985C>A (p.Pro329Thr) c.793C>A (p.Pro265Thr) | gnomAD v4 |
| 1 | g.209629885G>A | CA1375726 | LAMB3 | c.984C>T (p.Asp328=) c.792C>T (p.Asp264=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629885G>C | CA344592767 | LAMB3 | c.984C>G (p.Asp328Glu) c.792C>G (p.Asp264Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629885G= | CA2484300862 | LAMB3 | c.984C= (p.Asp328=) c.792C= (p.Asp264=) | |
| 1 | g.209629885G>T | CA1375725 | LAMB3 | c.984C>A (p.Asp328Glu) c.792C>A (p.Asp264Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629886T>A | CA344592772 | LAMB3 | c.983A>T (p.Asp328Val) c.791A>T (p.Asp264Val) | |
| 1 | g.209629886T>C | CA344592774 | LAMB3 | c.983A>G (p.Asp328Gly) c.791A>G (p.Asp264Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209629886T>G | CA344592777 | LAMB3 | c.983A>C (p.Asp328Ala) c.791A>C (p.Asp264Ala) | |
| 1 | g.209629886T= | CA2484300863 | LAMB3 | c.983A= (p.Asp328=) c.791A= (p.Asp264=) | |
| 1 | g.209629887C>A | CA344592780 | LAMB3 | c.982G>T (p.Asp328Tyr) c.790G>T (p.Asp264Tyr) | dbSNP |
| 1 | g.209629887C= | CA2484300864 | LAMB3 | c.982G= (p.Asp328=) c.790G= (p.Asp264=) | |
| 1 | g.209629887C>G | CA344592782 | LAMB3 | c.982G>C (p.Asp328His) c.790G>C (p.Asp264His) | |
| 1 | g.209629887C>T | CA344592784 | LAMB3 | c.982G>A (p.Asp328Asn) c.790G>A (p.Asp264Asn) | |
| 1 | g.209629888A>C | CA344592787 | LAMB3 | c.981T>G (p.Phe327Leu) c.789T>G (p.Phe263Leu) | |
| 1 | g.209629888A>G | CA423032353 | LAMB3 | c.981T>C (p.Phe327=) c.789T>C (p.Phe263=) | |
| 1 | g.209629888A>T | CA344592788 | LAMB3 | c.981T>A (p.Phe327Leu) c.789T>A (p.Phe263Leu) | |
| 1 | g.209629890del | CA2580062012 | LAMB3 | c.981del (p.Phe327LeufsTer?) c.789del (p.Phe263LeufsTer?) | ClinVar |
| 1 | g.209629889A>C | CA344592789 | LAMB3 | c.980T>G (p.Phe327Cys) c.788T>G (p.Phe263Cys) | |
| 1 | g.209629889A>G | CA344592792 | LAMB3 | c.980T>C (p.Phe327Ser) c.788T>C (p.Phe263Ser) | |
| 1 | g.209629889A>T | CA344592790 | LAMB3 | c.980T>A (p.Phe327Tyr) c.788T>A (p.Phe263Tyr) | |
| 1 | g.209629890A>C | CA344592794 | LAMB3 | c.979T>G (p.Phe327Val) c.787T>G (p.Phe263Val) | |
| 1 | g.209629890A>G | CA344592796 | LAMB3 | c.979T>C (p.Phe327Leu) c.787T>C (p.Phe263Leu) | |
| 1 | g.209629890A>T | CA344592799 | LAMB3 | c.979T>A (p.Phe327Ile) c.787T>A (p.Phe263Ile) | |
| 1 | g.209629890_209629891delinsAG | CA2484300865 | LAMB3 | c.978_979delinsCT (p.His326=) c.786_787delinsCT (p.His262=) | |
| 1 | g.209629891del | CA1375727 | LAMB3 | c.978del (p.Phe327LeufsTer?) c.786del (p.Phe263LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629891G>A | CA1375728 | LAMB3 | c.978C>T (p.His326=) c.786C>T (p.His262=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629891G>C | CA344592805 | LAMB3 | c.978C>G (p.His326Gln) c.786C>G (p.His262Gln) | gnomAD v4 |
| 1 | g.209629891G= | CA1142056791 | LAMB3 | c.978C= (p.His326=) c.786C= (p.His262=) | |
| 1 | g.209629891G>T | CA344592807 | LAMB3 | c.978C>A (p.His326Gln) c.786C>A (p.His262Gln) | |
| 1 | g.209629891_209629892delinsGT | CA2484300866 | LAMB3 | c.977_978delinsAC (p.His326=) c.785_786delinsAC (p.His262=) | |
| 1 | g.209629892_209629893del | CA913072635 | LAMB3 | c.977_978del (p.His326LeufsTer2) c.785_786del (p.His262LeufsTer2) | |
| 1 | g.209629892del | CA1375729 | LAMB3 | c.977del (p.His326ProfsTer?) c.785del (p.His262ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629892T>A | CA344592812 | LAMB3 | c.977A>T (p.His326Leu) c.785A>T (p.His262Leu) | |
| 1 | g.209629892T>C | CA344592814 | LAMB3 | c.977A>G (p.His326Arg) c.785A>G (p.His262Arg) | |
| 1 | g.209629892T>G | CA344592817 | LAMB3 | c.977A>C (p.His326Pro) c.785A>C (p.His262Pro) | |
| 1 | g.209629893del | CA2586964577 | LAMB3 | c.976del (p.His326ThrfsTer?) c.784del (p.His262ThrfsTer?) | |
| 1 | g.209629893G>A | CA344592827 | LAMB3 | c.976C>T (p.His326Tyr) c.784C>T (p.His262Tyr) | |
| 1 | g.209629893G>C | CA344592824 | LAMB3 | c.976C>G (p.His326Asp) c.784C>G (p.His262Asp) | |
| 1 | g.209629893G>T | CA344592822 | LAMB3 | c.976C>A (p.His326Asn) c.784C>A (p.His262Asn) | |
| 1 | g.209629894A= | CA2484300867 | LAMB3 | c.975T= (p.Cys325=) c.783T= (p.Cys261=) | |
| 1 | g.209629894A>C | CA344592830 | LAMB3 | c.975T>G (p.Cys325Trp) c.783T>G (p.Cys261Trp) | |
| 1 | g.209629894A>G | CA423032355 | LAMB3 | c.975T>C (p.Cys325=) c.783T>C (p.Cys261=) | COSMIC |
| 1 | g.209629894A>T | CA344592836 | LAMB3 | c.975T>A (p.Cys325Ter) c.783T>A (p.Cys261Ter) | ClinVar dbSNP |
| 1 | g.209629895C>A | CA344592839 | LAMB3 | c.974G>T (p.Cys325Phe) c.782G>T (p.Cys261Phe) | |
| 1 | g.209629895C>G | CA344592841 | LAMB3 | c.974G>C (p.Cys325Ser) c.782G>C (p.Cys261Ser) | |
| 1 | g.209629895C>T | CA344592844 | LAMB3 | c.974G>A (p.Cys325Tyr) c.782G>A (p.Cys261Tyr) | |
| 1 | g.209629896A= | CA2484300868 | LAMB3 | c.973T= (p.Cys325=) c.781T= (p.Cys261=) | |
| 1 | g.209629896A>C | CA344592846 | LAMB3 | c.973T>G (p.Cys325Gly) c.781T>G (p.Cys261Gly) | |
| 1 | g.209629896A>G | CA344592849 | LAMB3 | c.973T>C (p.Cys325Arg) c.781T>C (p.Cys261Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209629896A>T | CA344592851 | LAMB3 | c.973T>A (p.Cys325Ser) c.781T>A (p.Cys261Ser) | gnomAD v4 |
| 1 | g.209629896_209629897del | CA2586964580 | LAMB3 | c.972_973del (p.Cys325SerfsTer3) c.780_781del (p.Cys261SerfsTer3) | ClinVar |
| 1 | g.209629897del | CA2586964582 | LAMB3 | c.972del (p.Cys325ValfsTer?) c.780del (p.Cys261ValfsTer?) | |
| 1 | g.209629897T>A | CA423032356 | LAMB3 | c.972A>T (p.Thr324=) c.780A>T (p.Thr260=) | |
| 1 | g.209629897T>C | CA423032357 | LAMB3 | c.972A>G (p.Thr324=) c.780A>G (p.Thr260=) | ClinVar gnomAD v4 |
| 1 | g.209629897T>G | CA423032358 | LAMB3 | c.972A>C (p.Thr324=) c.780A>C (p.Thr260=) | |
| 1 | g.209629898G>A | CA1375730 | LAMB3 | c.971C>T (p.Thr324Ile) c.779C>T (p.Thr260Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209629898G>C | CA344592855 | LAMB3 | c.971C>G (p.Thr324Arg) c.779C>G (p.Thr260Arg) | |
| 1 | g.209629898G= | CA2484300869 | LAMB3 | c.971C= (p.Thr324=) c.779C= (p.Thr260=) | |
| 1 | g.209629898G>T | CA344592858 | LAMB3 | c.971C>A (p.Thr324Lys) c.779C>A (p.Thr260Lys) | |
| 1 | g.209629899T>A | CA344592866 | LAMB3 | c.970A>T (p.Thr324Ser) c.778A>T (p.Thr260Ser) | |
| 1 | g.209629899T>C | CA10609588 | LAMB3 | c.970A>G (p.Thr324Ala) c.778A>G (p.Thr260Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209629899T>G | CA344592862 | LAMB3 | c.970A>C (p.Thr324Pro) c.778A>C (p.Thr260Pro) | |
| 1 | g.209629899T= | CA2484300870 | LAMB3 | c.970A= (p.Thr324=) c.778A= (p.Thr260=) | |
| 1 | g.209629900C>A | CA344592868 | LAMB3 | c.969G>T (p.Glu323Asp) c.777G>T (p.Glu259Asp) | COSMIC |
| 1 | g.209629900C>G | CA344592874 | LAMB3 | c.969G>C (p.Glu323Asp) c.777G>C (p.Glu259Asp) | |
| 1 | g.209629900C>T | CA423032359 | LAMB3 | c.969G>A (p.Glu323=) c.777G>A (p.Glu259=) | |
| 1 | g.209629901T>A | CA344592877 | LAMB3 | c.968A>T (p.Glu323Val) c.776A>T (p.Glu259Val) | |
| 1 | g.209629901T>C | CA36758522 | LAMB3 | c.968A>G (p.Glu323Gly) c.776A>G (p.Glu259Gly) | dbSNP |
| 1 | g.209629901T>G | CA36758525 | LAMB3 | c.968A>C (p.Glu323Ala) c.776A>C (p.Glu259Ala) | dbSNP |
| 1 | g.209629901T= | CA1142748942 | LAMB3 | c.968A= (p.Glu323=) c.776A= (p.Glu259=) | |
| 1 | g.209629902C>A | CA344592884 | LAMB3 | c.967G>T (p.Glu323Ter) c.775G>T (p.Glu259Ter) | ClinVar |
| 1 | g.209629902C= | CA2484300871 | LAMB3 | c.967G= (p.Glu323=) c.775G= (p.Glu259=) | |
| 1 | g.209629902C>G | CA344592886 | LAMB3 | c.967G>C (p.Glu323Gln) c.775G>C (p.Glu259Gln) | |
| 1 | g.209629902C>T | CA344592890 | LAMB3 | c.967G>A (p.Glu323Lys) c.775G>A (p.Glu259Lys) | dbSNP |