| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) | |
| 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=) |