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.209615217del | CA2484294952 | LAMB3 | c.*58del (n.*58del) | dbSNP gnomAD v4 |
| 1 | g.209615217C>A | CA2650319273 | LAMB3 | c.*54G>T (n.*54G>T) | gnomAD v4 |
| 1 | g.209615219A= | CA2484294955 | LAMB3 | c.*52T= (n.*52T=) | |
| 1 | g.209615219A>G | CA36742891 | LAMB3 | c.*52T>C (n.*52T>C) | dbSNP |
| 1 | g.209615220C>A | CA2650319274 | LAMB3 | c.*51G>T (n.*51G>T) | gnomAD v4 |
| 1 | g.209615220C>T | CA2573655829 | LAMB3 | c.*51G>A (n.*51G>A) | |
| 1 | g.209615221C>A | CA2650319275 | LAMB3 | c.*50G>T (n.*50G>T) | gnomAD v4 |
| 1 | g.209615221C= | CA2484294956 | LAMB3 | c.*50G= (n.*50G=) | |
| 1 | g.209615221C>T | CA2484294957 | LAMB3 | c.*50G>A (n.*50G>A) | dbSNP gnomAD v4 |
| 1 | g.209615222A= | CA2484294958 | LAMB3 | c.*49T= (n.*49T=) | |
| 1 | g.209615222A>G | CA528652363 | LAMB3 | c.*49T>C (n.*49T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615225del | CA2650319276 | LAMB3 | c.*49del (n.*49del) | gnomAD v4 |
| 1 | g.209615228A>G | CA2650319277 | LAMB3 | c.*43T>C (n.*43T>C) | gnomAD v4 |
| 1 | g.209615231G>T | CA2573996992 | LAMB3 | c.*40C>A (n.*40C>A) | |
| 1 | g.209615232G>C | CA2747561635 | LAMB3 | c.*39C>G (n.*39C>G) | |
| 1 | g.209615233C>A | CA528652364 | LAMB3 | c.*38G>T (n.*38G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615233C= | CA2484294959 | LAMB3 | c.*38G= (n.*38G=) | |
| 1 | g.209615233C>T | CA1374823 | LAMB3 | c.*38G>A (n.*38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615234G>A | CA1374824 | LAMB3 | c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615234G= | CA1145078872 | LAMB3 | c.*37C= (n.*37C=) | |
| 1 | g.209615234G>T | CA2650319282 | LAMB3 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| 1 | g.209615235G= | CA2484294960 | LAMB3 | c.*36C= (n.*36C=) | |
| 1 | g.209615235G>T | CA2484294961 | LAMB3 | c.*36C>A (n.*36C>A) | dbSNP |
| 1 | g.209615236C>G | CA2650319284 | LAMB3 | c.*35G>C (n.*35G>C) | gnomAD v4 |
| 1 | g.209615237A= | CA2484294962 | LAMB3 | c.*34T= (n.*34T=) | |
| 1 | g.209615237A>G | CA2650319286 | LAMB3 | c.*34T>C (n.*34T>C) | gnomAD v4 |
| 1 | g.209615237A>T | CA2484294963 | LAMB3 | c.*34T>A (n.*34T>A) | dbSNP |
| 1 | g.209615239A= | CA2484294964 | LAMB3 | c.*32T= (n.*32T=) | |
| 1 | g.209615239A>C | CA36742898 | LAMB3 | c.*32T>G (n.*32T>G) | dbSNP |
| 1 | g.209615240T>C | CA528652365 | LAMB3 | c.*31A>G (n.*31A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615240T= | CA2484294965 | LAMB3 | c.*31A= (n.*31A=) | |
| 1 | g.209615241G>A | CA1374825 | LAMB3 | c.*30C>T (n.*30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615241G= | CA1143517319 | LAMB3 | c.*30C= (n.*30C=) | |
| 1 | g.209615241G>T | CA2650319291 | LAMB3 | c.*30C>A (n.*30C>A) | gnomAD v4 |
| 1 | g.209615242A>T | CA2650319293 | LAMB3 | c.*29T>A (n.*29T>A) | gnomAD v4 |
| 1 | g.209615244T>G | CA1374826 | LAMB3 | c.*27A>C (n.*27A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615244T= | CA1147896919 | LAMB3 | c.*27A= (n.*27A=) | |
| 1 | g.209615245G>T | CA2573655830 | LAMB3 | c.*26C>A (n.*26C>A) | |
| 1 | g.209615246G>C | CA528652366 | LAMB3 | c.*25C>G (n.*25C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615246G= | CA2484294966 | LAMB3 | c.*25C= (n.*25C=) | |
| 1 | g.209615247G>A | CA646385708 | LAMB3 | c.*24C>T (n.*24C>T) | gnomAD v4 COSMIC |
| 1 | g.209615248G>T | CA2747561636 | LAMB3 | c.*23C>A (n.*23C>A) | |
| 1 | g.209615249C= | CA2484294967 | LAMB3 | c.*22G= (n.*22G=) | |
| 1 | g.209615249C>T | CA1374827 | LAMB3 | c.*22G>A (n.*22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615251_209615273del | CA2573997047 | LAMB3 | c.3519_*22del (n.[c.3519_*22del;Ter1173CysextTer?]) c.3327_*22del (n.[c.3327_*22del;Ter1109CysextTer?]) | gnomAD v4 |
| 1 | g.209615251A>T | CA2573655831 | LAMB3 | c.*20T>A (n.*20T>A) | |
| 1 | g.209615252C= | CA1143649263 | LAMB3 | c.*19G= (n.*19G=) | |
| 1 | g.209615252C>T | CA1374828 | LAMB3 | c.*19G>A (n.*19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615253G>A | CA1374829 | LAMB3 | c.*18C>T (n.*18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615253G= | CA1143755650 | LAMB3 | c.*18C= (n.*18C=) | |
| 1 | g.209615255dup | CA528652367 | LAMB3 | c.*18dup (n.*18dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615254G>A | CA2484294969 | LAMB3 | c.*17C>T (n.*17C>T) | dbSNP |
| 1 | g.209615254G= | CA2484294968 | LAMB3 | c.*17C= (n.*17C=) | |
| 1 | g.209615255G>C | CA2566736757 | LAMB3 | c.*16C>G (n.*16C>G) | |
| 1 | g.209615255G= | CA2484294970 | LAMB3 | c.*16C= (n.*16C=) | |
| 1 | g.209615255G>T | CA730844330 | LAMB3 | c.*16C>A (n.*16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209615256C>A | CA2484294972 | LAMB3 | c.*15G>T (n.*15G>T) | dbSNP gnomAD v4 |
| 1 | g.209615256C= | CA2484294971 | LAMB3 | c.*15G= (n.*15G=) | |
| 1 | g.209615256C>T | CA1011766065 | LAMB3 | c.*15G>A (n.*15G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209615257T>C | CA2650319311 | LAMB3 | c.*14A>G (n.*14A>G) | gnomAD v4 |
| 1 | g.209615258G>A | CA528652368 | LAMB3 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615258G= | CA2484294973 | LAMB3 | c.*13C= (n.*13C=) | |
| 1 | g.209615259G>A | CA2747561637 | LAMB3 | c.*12C>T (n.*12C>T) | |
| 1 | g.209615260A= | CA2484294974 | LAMB3 | c.*11T= (n.*11T=) | |
| 1 | g.209615260A>C | CA2650319312 | LAMB3 | c.*11T>G (n.*11T>G) | gnomAD v4 |
| 1 | g.209615260A>G | CA2484294975 | LAMB3 | c.*11T>C (n.*11T>C) | dbSNP gnomAD v4 |
| 1 | g.209615262G>A | CA1374830 | LAMB3 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615262G= | CA2484294976 | LAMB3 | c.*9C= (n.*9C=) | |
| 1 | g.209615263C>A | CA528652369 | LAMB3 | c.*8G>T (n.*8G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615263C= | CA2484294977 | LAMB3 | c.*8G= (n.*8G=) | |
| 1 | g.209615265G>A | CA528652370 | LAMB3 | c.*6C>T (n.*6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615265G>C | CA1374831 | LAMB3 | c.*6C>G (n.*6C>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.209615265G= | CA2484294978 | LAMB3 | c.*6C= (n.*6C=) | |
| 1 | g.209615266T>C | CA2484294980 | LAMB3 | c.*5A>G (n.*5A>G) | dbSNP gnomAD v4 |
| 1 | g.209615266T= | CA2484294979 | LAMB3 | c.*5A= (n.*5A=) | |
| 1 | g.209615267A>G | CA2650319322 | LAMB3 | c.*4T>C (n.*4T>C) | gnomAD v4 |
| 1 | g.209615268G>C | CA2484294982 | LAMB3 | c.*3C>G (n.*3C>G) | dbSNP |
| 1 | g.209615268G= | CA2484294981 | LAMB3 | c.*3C= (n.*3C=) | |
| 1 | g.209615269C= | CA2484294983 | LAMB3 | c.*2G= (n.*2G=) | |
| 1 | g.209615269C>T | CA1374832 | LAMB3 | c.*2G>A (n.*2G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615270A= | CA2484294985 | LAMB3 | c.*1T= (n.*1T=) | |
| 1 | g.209615270A>G | CA2484294984 | LAMB3 | c.*1T>C (n.*1T>C) | dbSNP gnomAD v4 |
| 1 | g.209615271T>A | CA344580447 | LAMB3 | c.3519A>T (p.Ter1173Cys) c.3327A>T (p.Ter1109Cys) | |
| 1 | g.209615271T>C | CA344580441 | LAMB3 | c.3519A>G (p.Ter1173Trp) c.3327A>G (p.Ter1109Trp) | |
| 1 | g.209615271T>G | CA344580445 | LAMB3 | c.3519A>C (p.Ter1173Cys) c.3327A>C (p.Ter1109Cys) | |
| 1 | g.209615271_209615273delinsTCA | CA2484294986 | LAMB3 | c.3517_3519delinsTGA (p.Ter1173=) c.3325_3327delinsTGA (p.Ter1109=) | |
| 1 | g.209615272C>A | CA344580452 | LAMB3 | c.3518G>T (p.Ter1173Leu) c.3326G>T (p.Ter1109Leu) | |
| 1 | g.209615272C>G | CA344580456 | LAMB3 | c.3518G>C (p.Ter1173Ser) c.3326G>C (p.Ter1109Ser) | |
| 1 | g.209615272C>T | CA423027914 | LAMB3 | c.3518G>A (p.Ter1173=) c.3326G>A (p.Ter1109=) | |
| 1 | g.209615273_209615274del | CA16040687 | LAMB3 | c.3517_3518del (p.Ter1173MetextTer?) c.3325_3326del (p.Ter1109MetextTer?) | ClinVar dbSNP |
| 1 | g.209615273A>C | CA344580465 | LAMB3 | c.3517T>G (p.Ter1173Gly) c.3325T>G (p.Ter1109Gly) | |
| 1 | g.209615273A>G | CA344580466 | LAMB3 | c.3517T>C (p.Ter1173Arg) c.3325T>C (p.Ter1109Arg) | |
| 1 | g.209615273A>T | CA344580468 | LAMB3 | c.3517T>A (p.Ter1173Arg) c.3325T>A (p.Ter1109Arg) | |
| 1 | g.209615274C>A | CA344580472 | LAMB3 | c.3516G>T (p.Lys1172Asn) c.3324G>T (p.Lys1108Asn) | |
| 1 | g.209615274C>G | CA344580475 | LAMB3 | c.3516G>C (p.Lys1172Asn) c.3324G>C (p.Lys1108Asn) | |
| 1 | g.209615274C>T | CA423027944 | LAMB3 | c.3516G>A (p.Lys1172=) c.3324G>A (p.Lys1108=) | |
| 1 | g.209615275T>A | CA344580478 | LAMB3 | c.3515A>T (p.Lys1172Met) c.3323A>T (p.Lys1108Met) | |
| 1 | g.209615275T>C | CA344580484 | LAMB3 | c.3515A>G (p.Lys1172Arg) c.3323A>G (p.Lys1108Arg) | |
| 1 | g.209615275T>G | CA344580485 | LAMB3 | c.3515A>C (p.Lys1172Thr) c.3323A>C (p.Lys1108Thr) | |
| 1 | g.209615276T>A | CA344580486 | LAMB3 | c.3514A>T (p.Lys1172Ter) c.3322A>T (p.Lys1108Ter) | |
| 1 | g.209615276T>C | CA344580488 | LAMB3 | c.3514A>G (p.Lys1172Glu) c.3322A>G (p.Lys1108Glu) | |
| 1 | g.209615276T>G | CA1374833 | LAMB3 | c.3514A>C (p.Lys1172Gln) c.3322A>C (p.Lys1108Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615276T= | CA2484294987 | LAMB3 | c.3514A= (p.Lys1172=) c.3322A= (p.Lys1108=) | |
| 1 | g.209615277G>A | CA423027963 | LAMB3 | c.3513C>T (p.Cys1171=) c.3321C>T (p.Cys1107=) | dbSNP |
| 1 | g.209615277G>C | CA344580494 | LAMB3 | c.3513C>G (p.Cys1171Trp) c.3321C>G (p.Cys1107Trp) | |
| 1 | g.209615277G= | CA2484294988 | LAMB3 | c.3513C= (p.Cys1171=) c.3321C= (p.Cys1107=) | |
| 1 | g.209615277G>T | CA344580498 | LAMB3 | c.3513C>A (p.Cys1171Ter) c.3321C>A (p.Cys1107Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615278C>A | CA344580501 | LAMB3 | c.3512G>T (p.Cys1171Phe) c.3320G>T (p.Cys1107Phe) | gnomAD v4 |
| 1 | g.209615278C>G | CA344580503 | LAMB3 | c.3512G>C (p.Cys1171Ser) c.3320G>C (p.Cys1107Ser) | |
| 1 | g.209615278C>T | CA344580506 | LAMB3 | c.3512G>A (p.Cys1171Tyr) c.3320G>A (p.Cys1107Tyr) | |
| 1 | g.209615279A>C | CA344580508 | LAMB3 | c.3511T>G (p.Cys1171Gly) c.3319T>G (p.Cys1107Gly) | |
| 1 | g.209615279A>G | CA344580510 | LAMB3 | c.3511T>C (p.Cys1171Arg) c.3319T>C (p.Cys1107Arg) | |
| 1 | g.209615279A>T | CA344580512 | LAMB3 | c.3511T>A (p.Cys1171Ser) c.3319T>A (p.Cys1107Ser) | |
| 1 | g.209615280G>A | CA423027975 | LAMB3 | c.3510C>T (p.Thr1170=) c.3318C>T (p.Thr1106=) | |
| 1 | g.209615280G>C | CA423027976 | LAMB3 | c.3510C>G (p.Thr1170=) c.3318C>G (p.Thr1106=) | |
| 1 | g.209615280G>T | CA423027978 | LAMB3 | c.3510C>A (p.Thr1170=) c.3318C>A (p.Thr1106=) | |
| 1 | g.209615281G>A | CA344580515 | LAMB3 | c.3509C>T (p.Thr1170Ile) c.3317C>T (p.Thr1106Ile) | |
| 1 | g.209615281G>C | CA344580521 | LAMB3 | c.3509C>G (p.Thr1170Ser) c.3317C>G (p.Thr1106Ser) | |
| 1 | g.209615281G>T | CA344580523 | LAMB3 | c.3509C>A (p.Thr1170Asn) c.3317C>A (p.Thr1106Asn) | |
| 1 | g.209615282T>A | CA344580529 | LAMB3 | c.3508A>T (p.Thr1170Ser) c.3316A>T (p.Thr1106Ser) | |
| 1 | g.209615282T>C | CA344580531 | LAMB3 | c.3508A>G (p.Thr1170Ala) c.3316A>G (p.Thr1106Ala) | |
| 1 | g.209615282T>G | CA344580527 | LAMB3 | c.3508A>C (p.Thr1170Pro) c.3316A>C (p.Thr1106Pro) | |
| 1 | g.209615283G>A | CA423027994 | LAMB3 | c.3507C>T (p.Ala1169=) c.3315C>T (p.Ala1105=) | ClinVar |
| 1 | g.209615283G>C | CA423027997 | LAMB3 | c.3507C>G (p.Ala1169=) c.3315C>G (p.Ala1105=) | |
| 1 | g.209615283G>T | CA423027999 | LAMB3 | c.3507C>A (p.Ala1169=) c.3315C>A (p.Ala1105=) | |
| 1 | g.209615284G>A | CA36742922 | LAMB3 | c.3506C>T (p.Ala1169Val) c.3314C>T (p.Ala1105Val) | dbSNP gnomAD v4 |
| 1 | g.209615284G>C | CA344580533 | LAMB3 | c.3506C>G (p.Ala1169Gly) c.3314C>G (p.Ala1105Gly) | |
| 1 | g.209615284G= | CA2484294989 | LAMB3 | c.3506C= (p.Ala1169=) c.3314C= (p.Ala1105=) | |
| 1 | g.209615284G>T | CA344580534 | LAMB3 | c.3506C>A (p.Ala1169Asp) c.3314C>A (p.Ala1105Asp) | |
| 1 | g.209615285C>A | CA344580536 | LAMB3 | c.3505G>T (p.Ala1169Ser) c.3313G>T (p.Ala1105Ser) | |
| 1 | g.209615285C>G | CA344580547 | LAMB3 | c.3505G>C (p.Ala1169Pro) c.3313G>C (p.Ala1105Pro) | |
| 1 | g.209615285C>T | CA344580548 | LAMB3 | c.3505G>A (p.Ala1169Thr) c.3313G>A (p.Ala1105Thr) | |
| 1 | g.209615286A>C | CA344580550 | LAMB3 | c.3504T>G (p.Tyr1168Ter) c.3312T>G (p.Tyr1104Ter) | gnomAD v4 |
| 1 | g.209615286A>G | CA423028018 | LAMB3 | c.3504T>C (p.Tyr1168=) c.3312T>C (p.Tyr1104=) | |
| 1 | g.209615286A>T | CA344580549 | LAMB3 | c.3504T>A (p.Tyr1168Ter) c.3312T>A (p.Tyr1104Ter) | |
| 1 | g.209615287T>A | CA344580551 | LAMB3 | c.3503A>T (p.Tyr1168Phe) c.3311A>T (p.Tyr1104Phe) | |
| 1 | g.209615287T>C | CA344580552 | LAMB3 | c.3503A>G (p.Tyr1168Cys) c.3311A>G (p.Tyr1104Cys) | gnomAD v4 |
| 1 | g.209615287T>G | CA344580553 | LAMB3 | c.3503A>C (p.Tyr1168Ser) c.3311A>C (p.Tyr1104Ser) | dbSNP |
| 1 | g.209615287T= | CA2484294990 | LAMB3 | c.3503A= (p.Tyr1168=) c.3311A= (p.Tyr1104=) | |
| 1 | g.209615288A>C | CA344580554 | LAMB3 | c.3502T>G (p.Tyr1168Asp) c.3310T>G (p.Tyr1104Asp) | |
| 1 | g.209615288A>G | CA344580555 | LAMB3 | c.3502T>C (p.Tyr1168His) c.3310T>C (p.Tyr1104His) | |
| 1 | g.209615288A>T | CA344580556 | LAMB3 | c.3502T>A (p.Tyr1168Asn) c.3310T>A (p.Tyr1104Asn) | |
| 1 | g.209615289G>A | CA1374834 | LAMB3 | c.3501C>T (p.Tyr1167=) c.3309C>T (p.Tyr1103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615289G>C | CA344580557 | LAMB3 | c.3501C>G (p.Tyr1167Ter) c.3309C>G (p.Tyr1103Ter) | |
| 1 | g.209615289G= | CA2484294991 | LAMB3 | c.3501C= (p.Tyr1167=) c.3309C= (p.Tyr1103=) | |
| 1 | g.209615289G>T | CA344580558 | LAMB3 | c.3501C>A (p.Tyr1167Ter) c.3309C>A (p.Tyr1103Ter) | |
| 1 | g.209615290T>A | CA344580559 | LAMB3 | c.3500A>T (p.Tyr1167Phe) c.3308A>T (p.Tyr1103Phe) | |
| 1 | g.209615290T>C | CA344580560 | LAMB3 | c.3500A>G (p.Tyr1167Cys) c.3308A>G (p.Tyr1103Cys) | |
| 1 | g.209615290T>G | CA344580561 | LAMB3 | c.3500A>C (p.Tyr1167Ser) c.3308A>C (p.Tyr1103Ser) | |
| 1 | g.209615291A>C | CA344580562 | LAMB3 | c.3499T>G (p.Tyr1167Asp) c.3307T>G (p.Tyr1103Asp) | |
| 1 | g.209615291A>G | CA344580563 | LAMB3 | c.3499T>C (p.Tyr1167His) c.3307T>C (p.Tyr1103His) | |
| 1 | g.209615291A>T | CA344580564 | LAMB3 | c.3499T>A (p.Tyr1167Asn) c.3307T>A (p.Tyr1103Asn) | |
| 1 | g.209615292G>A | CA36742931 | LAMB3 | c.3498C>T (p.Leu1166=) c.3306C>T (p.Leu1102=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615292G>C | CA1374835 | LAMB3 | c.3498C>G (p.Leu1166=) c.3306C>G (p.Leu1102=) | dbSNP ExAC gnomAD v2 |
| 1 | g.209615292G= | CA2484294992 | LAMB3 | c.3498C= (p.Leu1166=) c.3306C= (p.Leu1102=) | |
| 1 | g.209615292G>T | CA423028049 | LAMB3 | c.3498C>A (p.Leu1166=) c.3306C>A (p.Leu1102=) | |
| 1 | g.209615293A>C | CA344580565 | LAMB3 | c.3497T>G (p.Leu1166Arg) c.3305T>G (p.Leu1102Arg) | |
| 1 | g.209615293A>G | CA344580566 | LAMB3 | c.3497T>C (p.Leu1166Pro) c.3305T>C (p.Leu1102Pro) | |
| 1 | g.209615293A>T | CA344580567 | LAMB3 | c.3497T>A (p.Leu1166His) c.3305T>A (p.Leu1102His) | |
| 1 | g.209615294G>A | CA344580568 | LAMB3 | c.3496C>T (p.Leu1166Phe) c.3304C>T (p.Leu1102Phe) | |
| 1 | g.209615294G>C | CA344580571 | LAMB3 | c.3496C>G (p.Leu1166Val) c.3304C>G (p.Leu1102Val) | |
| 1 | g.209615294G>T | CA344580573 | LAMB3 | c.3496C>A (p.Leu1166Ile) c.3304C>A (p.Leu1102Ile) | |
| 1 | g.209615295C>A | CA423028069 | LAMB3 | c.3495G>T (p.Val1165=) c.3303G>T (p.Val1101=) | |
| 1 | g.209615295C>G | CA423028071 | LAMB3 | c.3495G>C (p.Val1165=) c.3303G>C (p.Val1101=) | |
| 1 | g.209615295C>T | CA423028074 | LAMB3 | c.3495G>A (p.Val1165=) c.3303G>A (p.Val1101=) | |
| 1 | g.209615296A= | CA1147765241 | LAMB3 | c.3494T= (p.Val1165=) c.3302T= (p.Val1101=) | |
| 1 | g.209615296A>C | CA344580580 | LAMB3 | c.3494T>G (p.Val1165Gly) c.3302T>G (p.Val1101Gly) | |
| 1 | g.209615296A>G | CA344580590 | LAMB3 | c.3494T>C (p.Val1165Ala) c.3302T>C (p.Val1101Ala) | |
| 1 | g.209615296A>T | CA1374836 | LAMB3 | c.3494T>A (p.Val1165Glu) c.3302T>A (p.Val1101Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615297C>A | CA344580596 | LAMB3 | c.3493G>T (p.Val1165Leu) c.3301G>T (p.Val1101Leu) | |
| 1 | g.209615297C= | CA1143919650 | LAMB3 | c.3493G= (p.Val1165=) c.3301G= (p.Val1101=) | |
| 1 | g.209615297C>G | CA344580599 | LAMB3 | c.3493G>C (p.Val1165Leu) c.3301G>C (p.Val1101Leu) | |
| 1 | g.209615297C>T | CA1374837 | LAMB3 | c.3493G>A (p.Val1165Met) c.3301G>A (p.Val1101Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615300_209615301del | CA2586967978 | LAMB3 | c.3492_3493del (p.Val1165AlafsTer?) c.3300_3301del (p.Val1101AlafsTer?) | |
| 1 | g.209615298G>A | CA1374838 | LAMB3 | c.3492C>T (p.Arg1164=) c.3300C>T (p.Arg1100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209615298G>C | CA423028091 | LAMB3 | c.3492C>G (p.Arg1164=) c.3300C>G (p.Arg1100=) | |
| 1 | g.209615298G= | CA2484294993 | LAMB3 | c.3492C= (p.Arg1164=) c.3300C= (p.Arg1100=) | |
| 1 | g.209615298G>T | CA423028093 | LAMB3 | c.3492C>A (p.Arg1164=) c.3300C>A (p.Arg1100=) | |
| 1 | g.209615299C>A | CA344580602 | LAMB3 | c.3491G>T (p.Arg1164Leu) c.3299G>T (p.Arg1100Leu) | |
| 1 | g.209615299C= | CA1144131324 | LAMB3 | c.3491G= (p.Arg1164=) c.3299G= (p.Arg1100=) | |
| 1 | g.209615299C>G | CA344580604 | LAMB3 | c.3491G>C (p.Arg1164Pro) c.3299G>C (p.Arg1100Pro) | |
| 1 | g.209615299C>T | CA1374839 | LAMB3 | c.3491G>A (p.Arg1164His) c.3299G>A (p.Arg1100His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209615300G>A | CA1374840 | LAMB3 | c.3490C>T (p.Arg1164Cys) c.3298C>T (p.Arg1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209615300G>C | CA1374841 | LAMB3 | c.3490C>G (p.Arg1164Gly) c.3298C>G (p.Arg1100Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615300G= | CA1145280199 | LAMB3 | c.3490C= (p.Arg1164=) c.3298C= (p.Arg1100=) | |
| 1 | g.209615300G>T | CA344580615 | LAMB3 | c.3490C>A (p.Arg1164Ser) c.3298C>A (p.Arg1100Ser) | dbSNP gnomAD v4 |
| 1 | g.209615301C>A | CA423028111 | LAMB3 | c.3489G>T (p.Gly1163=) c.3297G>T (p.Gly1099=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209615301C= | CA2484294994 | LAMB3 | c.3489G= (p.Gly1163=) c.3297G= (p.Gly1099=) | |
| 1 | g.209615301C>G | CA423028112 | LAMB3 | c.3489G>C (p.Gly1163=) c.3297G>C (p.Gly1099=) | |
| 1 | g.209615301C>T | CA423028114 | LAMB3 | c.3489G>A (p.Gly1163=) c.3297G>A (p.Gly1099=) | |
| 1 | g.209615302C>A | CA344580617 | LAMB3 | c.3488G>T (p.Gly1163Val) c.3296G>T (p.Gly1099Val) | |
| 1 | g.209615302C>G | CA344580618 | LAMB3 | c.3488G>C (p.Gly1163Ala) c.3296G>C (p.Gly1099Ala) | |
| 1 | g.209615302C>T | CA344580619 | LAMB3 | c.3488G>A (p.Gly1163Glu) c.3296G>A (p.Gly1099Glu) | |
| 1 | g.209615303C>A | CA344580639 | LAMB3 | c.3487G>T (p.Gly1163Trp) c.3295G>T (p.Gly1099Trp) | |
| 1 | g.209615303C= | CA1148235737 | LAMB3 | c.3487G= (p.Gly1163=) c.3295G= (p.Gly1099=) | |
| 1 | g.209615303C>G | CA344580629 | LAMB3 | c.3487G>C (p.Gly1163Arg) c.3295G>C (p.Gly1099Arg) | |
| 1 | g.209615303C>T | CA1374842 | LAMB3 | c.3487G>A (p.Gly1163Arg) c.3295G>A (p.Gly1099Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615304A>C | CA344580643 | LAMB3 | c.3486T>G (p.Asn1162Lys) c.3294T>G (p.Asn1098Lys) | |
| 1 | g.209615304A>G | CA423028127 | LAMB3 | c.3486T>C (p.Asn1162=) c.3294T>C (p.Asn1098=) | |
| 1 | g.209615304A>T | CA344580646 | LAMB3 | c.3486T>A (p.Asn1162Lys) c.3294T>A (p.Asn1098Lys) | |
| 1 | g.209615305T>A | CA344580647 | LAMB3 | c.3485A>T (p.Asn1162Ile) c.3293A>T (p.Asn1098Ile) | |
| 1 | g.209615305T>C | CA344580648 | LAMB3 | c.3485A>G (p.Asn1162Ser) c.3293A>G (p.Asn1098Ser) | |
| 1 | g.209615305T>G | CA344580649 | LAMB3 | c.3485A>C (p.Asn1162Thr) c.3293A>C (p.Asn1098Thr) | |
| 1 | g.209615306T>A | CA344580653 | LAMB3 | c.3484A>T (p.Asn1162Tyr) c.3292A>T (p.Asn1098Tyr) | |
| 1 | g.209615306T>C | CA344580657 | LAMB3 | c.3484A>G (p.Asn1162Asp) c.3292A>G (p.Asn1098Asp) | |
| 1 | g.209615306T>G | CA344580658 | LAMB3 | c.3484A>C (p.Asn1162His) c.3292A>C (p.Asn1098His) | |
| 1 | g.209615307G>A | CA423028138 | LAMB3 | c.3483C>T (p.Ile1161=) c.3291C>T (p.Ile1097=) | ClinVar |
| 1 | g.209615307G>C | CA344580659 | LAMB3 | c.3483C>G (p.Ile1161Met) c.3291C>G (p.Ile1097Met) | |
| 1 | g.209615307G>T | CA423028140 | LAMB3 | c.3483C>A (p.Ile1161=) c.3291C>A (p.Ile1097=) | |
| 1 | g.209615308A>C | CA344580663 | LAMB3 | c.3482T>G (p.Ile1161Ser) c.3290T>G (p.Ile1097Ser) | |
| 1 | g.209615308A>G | CA344580666 | LAMB3 | c.3482T>C (p.Ile1161Thr) c.3290T>C (p.Ile1097Thr) | |
| 1 | g.209615308A>T | CA344580681 | LAMB3 | c.3482T>A (p.Ile1161Asn) c.3290T>A (p.Ile1097Asn) | |
| 1 | g.209615309T>A | CA344580690 | LAMB3 | c.3481A>T (p.Ile1161Phe) c.3289A>T (p.Ile1097Phe) | gnomAD v4 |
| 1 | g.209615309T>C | CA1374843 | LAMB3 | c.3481A>G (p.Ile1161Val) c.3289A>G (p.Ile1097Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615309T>G | CA344580688 | LAMB3 | c.3481A>C (p.Ile1161Leu) c.3289A>C (p.Ile1097Leu) | |
| 1 | g.209615309T= | CA2484294995 | LAMB3 | c.3481A= (p.Ile1161=) c.3289A= (p.Ile1097=) | |
| 1 | g.209615310G>A | CA423028149 | LAMB3 | c.3480C>T (p.His1160=) c.3288C>T (p.His1096=) | |
| 1 | g.209615310G>C | CA344580713 | LAMB3 | c.3480C>G (p.His1160Gln) c.3288C>G (p.His1096Gln) | |
| 1 | g.209615310G>T | CA344580701 | LAMB3 | c.3480C>A (p.His1160Gln) c.3288C>A (p.His1096Gln) | |
| 1 | g.209615311T>A | CA344580728 | LAMB3 | c.3479A>T (p.His1160Leu) c.3287A>T (p.His1096Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209615311T>C | CA1374844 | LAMB3 | c.3479A>G (p.His1160Arg) c.3287A>G (p.His1096Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615311T>G | CA344580736 | LAMB3 | c.3479A>C (p.His1160Pro) c.3287A>C (p.His1096Pro) | |
| 1 | g.209615311T= | CA1142209679 | LAMB3 | c.3479A= (p.His1160=) c.3287A= (p.His1096=) | |
| 1 | g.209615312G>A | CA344580742 | LAMB3 | c.3478C>T (p.His1160Tyr) c.3286C>T (p.His1096Tyr) | gnomAD v4 |
| 1 | g.209615312G>C | CA344580748 | LAMB3 | c.3478C>G (p.His1160Asp) c.3286C>G (p.His1096Asp) | |
| 1 | g.209615312G>T | CA344580746 | LAMB3 | c.3478C>A (p.His1160Asn) c.3286C>A (p.His1096Asn) | COSMIC |
| 1 | g.209615313G>A | CA423028157 | LAMB3 | c.3477C>T (p.Asp1159=) c.3285C>T (p.Asp1095=) | |
| 1 | g.209615313G>C | CA344580752 | LAMB3 | c.3477C>G (p.Asp1159Glu) c.3285C>G (p.Asp1095Glu) | |
| 1 | g.209615313G>T | CA344580765 | LAMB3 | c.3477C>A (p.Asp1159Glu) c.3285C>A (p.Asp1095Glu) | |
| 1 | g.209615314T>A | CA344580766 | LAMB3 | c.3476A>T (p.Asp1159Val) c.3284A>T (p.Asp1095Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615314T>C | CA344580768 | LAMB3 | c.3476A>G (p.Asp1159Gly) c.3284A>G (p.Asp1095Gly) | gnomAD v4 |
| 1 | g.209615314T>G | CA344580773 | LAMB3 | c.3476A>C (p.Asp1159Ala) c.3284A>C (p.Asp1095Ala) | gnomAD v4 |
| 1 | g.209615314T= | CA2484294996 | LAMB3 | c.3476A= (p.Asp1159=) c.3284A= (p.Asp1095=) | |
| 1 | g.209615315C>A | CA344580777 | LAMB3 | c.3475G>T (p.Asp1159Tyr) c.3283G>T (p.Asp1095Tyr) | |
| 1 | g.209615315C>G | CA344580780 | LAMB3 | c.3475G>C (p.Asp1159His) c.3283G>C (p.Asp1095His) | |
| 1 | g.209615315C>T | CA344580781 | LAMB3 | c.3475G>A (p.Asp1159Asn) c.3283G>A (p.Asp1095Asn) | |
| 1 | g.209615318_209615330del | CA2586967979 | LAMB3 | c.3463_3475del (p.Glu1155ThrfsTer?) c.3271_3283del (p.Glu1091ThrfsTer?) | ClinVar |
| 1 | g.209615316A>C | CA423028169 | LAMB3 | c.3474T>G (p.Arg1158=) c.3282T>G (p.Arg1094=) | |
| 1 | g.209615316A>G | CA423028170 | LAMB3 | c.3474T>C (p.Arg1158=) c.3282T>C (p.Arg1094=) | |
| 1 | g.209615316A>T | CA423028172 | LAMB3 | c.3474T>A (p.Arg1158=) c.3282T>A (p.Arg1094=) | |
| 1 | g.209615317C>A | CA344580782 | LAMB3 | c.3473G>T (p.Arg1158Leu) c.3281G>T (p.Arg1094Leu) | |
| 1 | g.209615317C= | CA1149037323 | LAMB3 | c.3473G= (p.Arg1158=) c.3281G= (p.Arg1094=) | |
| 1 | g.209615317C>G | CA344580788 | LAMB3 | c.3473G>C (p.Arg1158Pro) c.3281G>C (p.Arg1094Pro) | |
| 1 | g.209615317C>T | CA1374845 | LAMB3 | c.3473G>A (p.Arg1158His) c.3281G>A (p.Arg1094His) | dbSNP ExAC gnomAD v2 gnomAD v4 |