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.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 |
| 1 | g.209615318G>A | CA1374846 | LAMB3 | c.3472C>T (p.Arg1158Cys) c.3280C>T (p.Arg1094Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615318G>C | CA344580792 | LAMB3 | c.3472C>G (p.Arg1158Gly) c.3280C>G (p.Arg1094Gly) | |
| 1 | g.209615318G= | CA1143702460 | LAMB3 | c.3472C= (p.Arg1158=) c.3280C= (p.Arg1094=) | |
| 1 | g.209615318G>T | CA344580793 | LAMB3 | c.3472C>A (p.Arg1158Ser) c.3280C>A (p.Arg1094Ser) | |
| 1 | g.209615319G>A | CA423028182 | LAMB3 | c.3471C>T (p.Ile1157=) c.3279C>T (p.Ile1093=) | |
| 1 | g.209615319G>C | CA344580796 | LAMB3 | c.3471C>G (p.Ile1157Met) c.3279C>G (p.Ile1093Met) | |
| 1 | g.209615319G>T | CA423028185 | LAMB3 | c.3471C>A (p.Ile1157=) c.3279C>A (p.Ile1093=) | |
| 1 | g.209615320A>C | CA344580800 | LAMB3 | c.3470T>G (p.Ile1157Ser) c.3278T>G (p.Ile1093Ser) | |
| 1 | g.209615320A>G | CA344580802 | LAMB3 | c.3470T>C (p.Ile1157Thr) c.3278T>C (p.Ile1093Thr) | |
| 1 | g.209615320A>T | CA344580804 | LAMB3 | c.3470T>A (p.Ile1157Asn) c.3278T>A (p.Ile1093Asn) | |
| 1 | g.209615321T>A | CA344580817 | LAMB3 | c.3469A>T (p.Ile1157Phe) c.3277A>T (p.Ile1093Phe) | |
| 1 | g.209615321T>C | CA344580818 | LAMB3 | c.3469A>G (p.Ile1157Val) c.3277A>G (p.Ile1093Val) | gnomAD v4 |
| 1 | g.209615321T>G | CA344580819 | LAMB3 | c.3469A>C (p.Ile1157Leu) c.3277A>C (p.Ile1093Leu) | |
| 1 | g.209615322C>A | CA344580822 | LAMB3 | c.3468G>T (p.Gln1156His) c.3276G>T (p.Gln1092His) | |
| 1 | g.209615322C= | CA2484294997 | LAMB3 | c.3468G= (p.Gln1156=) c.3276G= (p.Gln1092=) | |
| 1 | g.209615322C>G | CA344580824 | LAMB3 | c.3468G>C (p.Gln1156His) c.3276G>C (p.Gln1092His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615322C>T | CA423028189 | LAMB3 | c.3468G>A (p.Gln1156=) c.3276G>A (p.Gln1092=) | |
| 1 | g.209615323T>A | CA344580830 | LAMB3 | c.3467A>T (p.Gln1156Leu) c.3275A>T (p.Gln1092Leu) | |
| 1 | g.209615323T>C | CA344580833 | LAMB3 | c.3467A>G (p.Gln1156Arg) c.3275A>G (p.Gln1092Arg) | |
| 1 | g.209615323T>G | CA344580836 | LAMB3 | c.3467A>C (p.Gln1156Pro) c.3275A>C (p.Gln1092Pro) | |
| 1 | g.209615324G>A | CA344580844 | LAMB3 | c.3466C>T (p.Gln1156Ter) c.3274C>T (p.Gln1092Ter) | |
| 1 | g.209615324G>C | CA344580848 | LAMB3 | c.3466C>G (p.Gln1156Glu) c.3274C>G (p.Gln1092Glu) | |
| 1 | g.209615324G= | CA2484294998 | LAMB3 | c.3466C= (p.Gln1156=) c.3274C= (p.Gln1092=) | |
| 1 | g.209615324G>T | CA1374847 | LAMB3 | c.3466C>A (p.Gln1156Lys) c.3274C>A (p.Gln1092Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209615325C>A | CA344580849 | LAMB3 | c.3465G>T (p.Glu1155Asp) c.3273G>T (p.Glu1091Asp) | |
| 1 | g.209615325C>G | CA344580850 | LAMB3 | c.3465G>C (p.Glu1155Asp) c.3273G>C (p.Glu1091Asp) | |
| 1 | g.209615325C>T | CA423028191 | LAMB3 | c.3465G>A (p.Glu1155=) c.3273G>A (p.Glu1091=) | gnomAD v4 |
| 1 | g.209615326T>A | CA344580852 | LAMB3 | c.3464A>T (p.Glu1155Val) c.3272A>T (p.Glu1091Val) | |
| 1 | g.209615326T>C | CA344580855 | LAMB3 | c.3464A>G (p.Glu1155Gly) c.3272A>G (p.Glu1091Gly) | |
| 1 | g.209615326T>G | CA344580856 | LAMB3 | c.3464A>C (p.Glu1155Ala) c.3272A>C (p.Glu1091Ala) | |
| 1 | g.209615327C>A | CA344580857 | LAMB3 | c.3463G>T (p.Glu1155Ter) c.3271G>T (p.Glu1091Ter) | |
| 1 | g.209615327C>G | CA344580861 | LAMB3 | c.3463G>C (p.Glu1155Gln) c.3271G>C (p.Glu1091Gln) | |
| 1 | g.209615327C>T | CA344580864 | LAMB3 | c.3463G>A (p.Glu1155Lys) c.3271G>A (p.Glu1091Lys) | |
| 1 | g.209615328C>A | CA423028192 | LAMB3 | c.3462G>T (p.Val1154=) c.3270G>T (p.Val1090=) | |
| 1 | g.209615328C= | CA2484294999 | LAMB3 | c.3462G= (p.Val1154=) c.3270G= (p.Val1090=) | |
| 1 | g.209615328C>G | CA423028193 | LAMB3 | c.3462G>C (p.Val1154=) c.3270G>C (p.Val1090=) | |
| 1 | g.209615328C>T | CA423028194 | LAMB3 | c.3462G>A (p.Val1154=) c.3270G>A (p.Val1090=) | dbSNP gnomAD v2 |
| 1 | g.209615329A>C | CA344580865 | LAMB3 | c.3461T>G (p.Val1154Gly) c.3269T>G (p.Val1090Gly) | |
| 1 | g.209615329A>G | CA344580866 | LAMB3 | c.3461T>C (p.Val1154Ala) c.3269T>C (p.Val1090Ala) | |
| 1 | g.209615329A>T | CA344580867 | LAMB3 | c.3461T>A (p.Val1154Glu) c.3269T>A (p.Val1090Glu) | |
| 1 | g.209615330C>A | CA344580870 | LAMB3 | c.3460G>T (p.Val1154Leu) c.3268G>T (p.Val1090Leu) | |
| 1 | g.209615330C= | CA1148716188 | LAMB3 | c.3460G= (p.Val1154=) c.3268G= (p.Val1090=) | |
| 1 | g.209615330C>G | CA344580883 | LAMB3 | c.3460G>C (p.Val1154Leu) c.3268G>C (p.Val1090Leu) | |
| 1 | g.209615330C>T | CA1374848 | LAMB3 | c.3460G>A (p.Val1154Met) c.3268G>A (p.Val1090Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615331A>C | CA423028196 | LAMB3 | c.3459T>G (p.Arg1153=) c.3267T>G (p.Arg1089=) | |
| 1 | g.209615331A>G | CA423028197 | LAMB3 | c.3459T>C (p.Arg1153=) c.3267T>C (p.Arg1089=) | |
| 1 | g.209615331A>T | CA423028198 | LAMB3 | c.3459T>A (p.Arg1153=) c.3267T>A (p.Arg1089=) | |
| 1 | g.209615332C>A | CA344580886 | LAMB3 | c.3458G>T (p.Arg1153Leu) c.3266G>T (p.Arg1089Leu) | gnomAD v4 |
| 1 | g.209615332C= | CA2484295000 | LAMB3 | c.3458G= (p.Arg1153=) c.3266G= (p.Arg1089=) | |
| 1 | g.209615332C>G | CA344580889 | LAMB3 | c.3458G>C (p.Arg1153Pro) c.3266G>C (p.Arg1089Pro) | gnomAD v4 |
| 1 | g.209615332C>T | CA1374849 | LAMB3 | c.3458G>A (p.Arg1153His) c.3266G>A (p.Arg1089His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615333_209615339del | CA2586967980 | LAMB3 | c.3452_3458del (p.Glu1151ValfsTer?) c.3260_3266del (p.Glu1087ValfsTer?) | |
| 1 | g.209615333G>A | CA1374850 | LAMB3 | c.3457C>T (p.Arg1153Cys) c.3265C>T (p.Arg1089Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615333G>C | CA344580893 | LAMB3 | c.3457C>G (p.Arg1153Gly) c.3265C>G (p.Arg1089Gly) | |
| 1 | g.209615333G= | CA1147131330 | LAMB3 | c.3457C= (p.Arg1153=) c.3265C= (p.Arg1089=) | |
| 1 | g.209615333G>T | CA344580896 | LAMB3 | c.3457C>A (p.Arg1153Ser) c.3265C>A (p.Arg1089Ser) | ClinVar |
| 1 | g.209615334C>A | CA344580902 | LAMB3 | c.3456G>T (p.Lys1152Asn) c.3264G>T (p.Lys1088Asn) | gnomAD v4 |
| 1 | g.209615334C>G | CA344580904 | LAMB3 | c.3456G>C (p.Lys1152Asn) c.3264G>C (p.Lys1088Asn) | |
| 1 | g.209615334C>T | CA423028200 | LAMB3 | c.3456G>A (p.Lys1152=) c.3264G>A (p.Lys1088=) | ClinVar gnomAD v4 |
| 1 | g.209615335T>A | CA344580906 | LAMB3 | c.3455A>T (p.Lys1152Met) c.3263A>T (p.Lys1088Met) | |
| 1 | g.209615335T>C | CA36742980 | LAMB3 | c.3455A>G (p.Lys1152Arg) c.3263A>G (p.Lys1088Arg) | dbSNP |
| 1 | g.209615335T>G | CA344580917 | LAMB3 | c.3455A>C (p.Lys1152Thr) c.3263A>C (p.Lys1088Thr) | |
| 1 | g.209615335T= | CA2484295001 | LAMB3 | c.3455A= (p.Lys1152=) c.3263A= (p.Lys1088=) | |
| 1 | g.209615336T>A | CA344580920 | LAMB3 | c.3454A>T (p.Lys1152Ter) c.3262A>T (p.Lys1088Ter) | |
| 1 | g.209615336T>C | CA344580922 | LAMB3 | c.3454A>G (p.Lys1152Glu) c.3262A>G (p.Lys1088Glu) | |
| 1 | g.209615336T>G | CA344580923 | LAMB3 | c.3454A>C (p.Lys1152Gln) c.3262A>C (p.Lys1088Gln) | gnomAD v4 |
| 1 | g.209615336_209615344delinsTCTCCAGTC | CA2484295002 | LAMB3 | c.3446_3454delinsGACTGGAGA (p.Gly1149=) c.3254_3262delinsGACTGGAGA (p.Gly1085=) | |
| 1 | g.209615337C>A | CA344580926 | LAMB3 | c.3453G>T (p.Glu1151Asp) c.3261G>T (p.Glu1087Asp) | |
| 1 | g.209615337C>G | CA344580928 | LAMB3 | c.3453G>C (p.Glu1151Asp) c.3261G>C (p.Glu1087Asp) | |
| 1 | g.209615337C>T | CA423028201 | LAMB3 | c.3453G>A (p.Glu1151=) c.3261G>A (p.Glu1087=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.209615339_209615346del | CA358700 | LAMB3 | c.3446_3453del (p.Gly1149GlufsTer8) c.3254_3261del (p.Gly1085GlufsTer8) | ClinVar dbSNP |
| 1 | g.209615338T>A | CA344580935 | LAMB3 | c.3452A>T (p.Glu1151Val) c.3260A>T (p.Glu1087Val) | |
| 1 | g.209615338T>C | CA344580931 | LAMB3 | c.3452A>G (p.Glu1151Gly) c.3260A>G (p.Glu1087Gly) | |
| 1 | g.209615338T>G | CA344580934 | LAMB3 | c.3452A>C (p.Glu1151Ala) c.3260A>C (p.Glu1087Ala) | |
| 1 | g.209615339C>A | CA344580936 | LAMB3 | c.3451G>T (p.Glu1151Ter) c.3259G>T (p.Glu1087Ter) | |
| 1 | g.209615339C= | CA2484295003 | LAMB3 | c.3451G= (p.Glu1151=) c.3259G= (p.Glu1087=) | |
| 1 | g.209615339C>G | CA344580937 | LAMB3 | c.3451G>C (p.Glu1151Gln) c.3259G>C (p.Glu1087Gln) | gnomAD v4 |
| 1 | g.209615339C>T | CA1374851 | LAMB3 | c.3451G>A (p.Glu1151Lys) c.3259G>A (p.Glu1087Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615340C>A | CA423028203 | LAMB3 | c.3450G>T (p.Leu1150=) c.3258G>T (p.Leu1086=) | |
| 1 | g.209615340C>G | CA423028204 | LAMB3 | c.3450G>C (p.Leu1150=) c.3258G>C (p.Leu1086=) | |
| 1 | g.209615340C>T | CA423028205 | LAMB3 | c.3450G>A (p.Leu1150=) c.3258G>A (p.Leu1086=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209615341A>C | CA344580948 | LAMB3 | c.3449T>G (p.Leu1150Arg) c.3257T>G (p.Leu1086Arg) | |
| 1 | g.209615341A>G | CA344580946 | LAMB3 | c.3449T>C (p.Leu1150Pro) c.3257T>C (p.Leu1086Pro) | |
| 1 | g.209615341A>T | CA344580943 | LAMB3 | c.3449T>A (p.Leu1150Gln) c.3257T>A (p.Leu1086Gln) | |
| 1 | g.209615342G>A | CA1374852 | LAMB3 | c.3448C>T (p.Leu1150=) c.3256C>T (p.Leu1086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615342G>C | CA344580953 | LAMB3 | c.3448C>G (p.Leu1150Val) c.3256C>G (p.Leu1086Val) | |
| 1 | g.209615342G= | CA1139922142 | LAMB3 | c.3448C= (p.Leu1150=) c.3256C= (p.Leu1086=) | |
| 1 | g.209615342G>T | CA344580956 | LAMB3 | c.3448C>A (p.Leu1150Met) c.3256C>A (p.Leu1086Met) | |
| 1 | g.209615343T>A | CA423028209 | LAMB3 | c.3447A>T (p.Gly1149=) c.3255A>T (p.Gly1085=) | |
| 1 | g.209615343T>C | CA423028210 | LAMB3 | c.3447A>G (p.Gly1149=) c.3255A>G (p.Gly1085=) | |
| 1 | g.209615343T>G | CA423028211 | LAMB3 | c.3447A>C (p.Gly1149=) c.3255A>C (p.Gly1085=) | |
| 1 | g.209615344C>A | CA344580961 | LAMB3 | c.3446G>T (p.Gly1149Val) c.3254G>T (p.Gly1085Val) | |
| 1 | g.209615344C= | CA2484295004 | LAMB3 | c.3446G= (p.Gly1149=) c.3254G= (p.Gly1085=) | |
| 1 | g.209615344C>G | CA344580962 | LAMB3 | c.3446G>C (p.Gly1149Ala) c.3254G>C (p.Gly1085Ala) | |
| 1 | g.209615344C>T | CA344580963 | LAMB3 | c.3446G>A (p.Gly1149Glu) c.3254G>A (p.Gly1085Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209615345C>A | CA344580964 | LAMB3 | c.3445G>T (p.Gly1149Ter) c.3253G>T (p.Gly1085Ter) | |
| 1 | g.209615345C>G | CA344580969 | LAMB3 | c.3445G>C (p.Gly1149Arg) c.3253G>C (p.Gly1085Arg) | |
| 1 | g.209615345C>T | CA344580965 | LAMB3 | c.3445G>A (p.Gly1149Arg) c.3253G>A (p.Gly1085Arg) | |
| 1 | g.209615346T>A | CA423028212 | LAMB3 | c.3444A>T (p.Thr1148=) c.3252A>T (p.Thr1084=) | |
| 1 | g.209615346T>C | CA1374853 | LAMB3 | c.3444A>G (p.Thr1148=) c.3252A>G (p.Thr1084=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615346T>G | CA423028213 | LAMB3 | c.3444A>C (p.Thr1148=) c.3252A>C (p.Thr1084=) | |
| 1 | g.209615346T= | CA1143995776 | LAMB3 | c.3444A= (p.Thr1148=) c.3252A= (p.Thr1084=) | |
| 1 | g.209615347G>A | CA344580974 | LAMB3 | c.3443C>T (p.Thr1148Ile) c.3251C>T (p.Thr1084Ile) | gnomAD v4 |
| 1 | g.209615347G>C | CA344580984 | LAMB3 | c.3443C>G (p.Thr1148Arg) c.3251C>G (p.Thr1084Arg) | |
| 1 | g.209615347G= | CA1145558651 | LAMB3 | c.3443C= (p.Thr1148=) c.3251C= (p.Thr1084=) | |
| 1 | g.209615347G>T | CA1374854 | LAMB3 | c.3443C>A (p.Thr1148Lys) c.3251C>A (p.Thr1084Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615348T>A | CA344580990 | LAMB3 | c.3442A>T (p.Thr1148Ser) c.3250A>T (p.Thr1084Ser) | COSMIC |
| 1 | g.209615348T>C | CA344580993 | LAMB3 | c.3442A>G (p.Thr1148Ala) c.3250A>G (p.Thr1084Ala) | gnomAD v4 |
| 1 | g.209615348T>G | CA344580996 | LAMB3 | c.3442A>C (p.Thr1148Pro) c.3250A>C (p.Thr1084Pro) | |
| 1 | g.209615349C>A | CA1374855 | LAMB3 | c.3441G>T (p.Leu1147=) c.3249G>T (p.Leu1083=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615349C= | CA2484295005 | LAMB3 | c.3441G= (p.Leu1147=) c.3249G= (p.Leu1083=) | |
| 1 | g.209615349C>G | CA423028218 | LAMB3 | c.3441G>C (p.Leu1147=) c.3249G>C (p.Leu1083=) | dbSNP |
| 1 | g.209615349C>T | CA423028216 | LAMB3 | c.3441G>A (p.Leu1147=) c.3249G>A (p.Leu1083=) | COSMIC |
| 1 | g.209615350A= | CA2484295006 | LAMB3 | c.3440T= (p.Leu1147=) c.3248T= (p.Leu1083=) | |
| 1 | g.209615350A>C | CA344581000 | LAMB3 | c.3440T>G (p.Leu1147Arg) c.3248T>G (p.Leu1083Arg) | |
| 1 | g.209615350A>G | CA1374856 | LAMB3 | c.3440T>C (p.Leu1147Pro) c.3248T>C (p.Leu1083Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615350A>T | CA344581004 | LAMB3 | c.3440T>A (p.Leu1147Gln) c.3248T>A (p.Leu1083Gln) | |
| 1 | g.209615351G>A | CA423028219 | LAMB3 | c.3439C>T (p.Leu1147=) c.3247C>T (p.Leu1083=) | |
| 1 | g.209615351G>C | CA344581008 | LAMB3 | c.3439C>G (p.Leu1147Val) c.3247C>G (p.Leu1083Val) | gnomAD v4 |
| 1 | g.209615351G>T | CA344581007 | LAMB3 | c.3439C>A (p.Leu1147Met) c.3247C>A (p.Leu1083Met) | |
| 1 | g.209615352G>A | CA423028220 | LAMB3 | c.3438C>T (p.Asp1146=) c.3246C>T (p.Asp1082=) | gnomAD v4 |
| 1 | g.209615352G>C | CA344581010 | LAMB3 | c.3438C>G (p.Asp1146Glu) c.3246C>G (p.Asp1082Glu) | |
| 1 | g.209615352G>T | CA344581011 | LAMB3 | c.3438C>A (p.Asp1146Glu) c.3246C>A (p.Asp1082Glu) | |
| 1 | g.209615353T>A | CA344581016 | LAMB3 | c.3437A>T (p.Asp1146Val) c.3245A>T (p.Asp1082Val) | |
| 1 | g.209615353T>C | CA344581018 | LAMB3 | c.3437A>G (p.Asp1146Gly) c.3245A>G (p.Asp1082Gly) | gnomAD v4 |
| 1 | g.209615353T>G | CA344581021 | LAMB3 | c.3437A>C (p.Asp1146Ala) c.3245A>C (p.Asp1082Ala) | |
| 1 | g.209615354C>A | CA1374857 | LAMB3 | c.3436G>T (p.Asp1146Tyr) c.3244G>T (p.Asp1082Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615354C= | CA1142265248 | LAMB3 | c.3436G= (p.Asp1146=) c.3244G= (p.Asp1082=) | |
| 1 | g.209615354C>G | CA344581027 | LAMB3 | c.3436G>C (p.Asp1146His) c.3244G>C (p.Asp1082His) | |
| 1 | g.209615354C>T | CA344581030 | LAMB3 | c.3436G>A (p.Asp1146Asn) c.3244G>A (p.Asp1082Asn) | |
| 1 | g.209615355C>A | CA423028221 | LAMB3 | c.3435G>T (p.Ala1145=) c.3243G>T (p.Ala1081=) | |
| 1 | g.209615355C= | CA1143420046 | LAMB3 | c.3435G= (p.Ala1145=) c.3243G= (p.Ala1081=) | |
| 1 | g.209615355C>G | CA423028222 | LAMB3 | c.3435G>C (p.Ala1145=) c.3243G>C (p.Ala1081=) | |
| 1 | g.209615355C>T | CA1374858 | LAMB3 | c.3435G>A (p.Ala1145=) c.3243G>A (p.Ala1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615356G>A | CA1374859 | LAMB3 | c.3434C>T (p.Ala1145Val) c.3242C>T (p.Ala1081Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615356G>C | CA344581041 | LAMB3 | c.3434C>G (p.Ala1145Gly) c.3242C>G (p.Ala1081Gly) | |
| 1 | g.209615356G= | CA2484295008 | LAMB3 | c.3434C= (p.Ala1145=) c.3242C= (p.Ala1081=) | |
| 1 | g.209615356G>T | CA344581044 | LAMB3 | c.3434C>A (p.Ala1145Glu) c.3242C>A (p.Ala1081Glu) | |
| 1 | g.209615356_209615358delinsACC | CA891862877 | LAMB3 | c.3432_3434delinsGGT (p.Ala1145Val) c.3240_3242delinsGGT (p.Ala1081Val) | ClinVar dbSNP |
| 1 | g.209615356_209615358delinsGCT | CA2484295007 | LAMB3 | c.3432_3434delinsAGC (p.Ser1144=) c.3240_3242delinsAGC (p.Ser1080=) | |
| 1 | g.209615357C>A | CA344581046 | LAMB3 | c.3433G>T (p.Ala1145Ser) c.3241G>T (p.Ala1081Ser) | |
| 1 | g.209615357C>G | CA344581048 | LAMB3 | c.3433G>C (p.Ala1145Pro) c.3241G>C (p.Ala1081Pro) | |
| 1 | g.209615357C>T | CA344581052 | LAMB3 | c.3433G>A (p.Ala1145Thr) c.3241G>A (p.Ala1081Thr) | COSMIC |
| 1 | g.209615358T>A | CA423028223 | LAMB3 | c.3432A>T (p.Ser1144=) c.3240A>T (p.Ser1080=) | gnomAD v4 |
| 1 | g.209615358T>C | CA1374860 | LAMB3 | c.3432A>G (p.Ser1144=) c.3240A>G (p.Ser1080=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615358T>G | CA423028224 | LAMB3 | c.3432A>C (p.Ser1144=) c.3240A>C (p.Ser1080=) | |
| 1 | g.209615358T= | CA1139849130 | LAMB3 | c.3432A= (p.Ser1144=) c.3240A= (p.Ser1080=) | |
| 1 | g.209615359G>A | CA344581059 | LAMB3 | c.3431C>T (p.Ser1144Leu) c.3239C>T (p.Ser1080Leu) | gnomAD v4 |
| 1 | g.209615359G>C | CA344581062 | LAMB3 | c.3431C>G (p.Ser1144Ter) c.3239C>G (p.Ser1080Ter) | |
| 1 | g.209615359G= | CA2484295009 | LAMB3 | c.3431C= (p.Ser1144=) c.3239C= (p.Ser1080=) | |
| 1 | g.209615359G>T | CA358834 | LAMB3 | c.3431C>A (p.Ser1144Ter) c.3239C>A (p.Ser1080Ter) | ClinVar dbSNP |
| 1 | g.209615360A>C | CA344581067 | LAMB3 | c.3430T>G (p.Ser1144Ala) c.3238T>G (p.Ser1080Ala) | |
| 1 | g.209615360A>G | CA344581070 | LAMB3 | c.3430T>C (p.Ser1144Pro) c.3238T>C (p.Ser1080Pro) | |
| 1 | g.209615360A>T | CA344581072 | LAMB3 | c.3430T>A (p.Ser1144Thr) c.3238T>A (p.Ser1080Thr) | |
| 1 | g.209615361G>A | CA423028228 | LAMB3 | c.3429C>T (p.Arg1143=) c.3237C>T (p.Arg1079=) | ClinVar dbSNP |
| 1 | g.209615361G>C | CA423028229 | LAMB3 | c.3429C>G (p.Arg1143=) c.3237C>G (p.Arg1079=) | |
| 1 | g.209615361G>T | CA423028230 | LAMB3 | c.3429C>A (p.Arg1143=) c.3237C>A (p.Arg1079=) | |
| 1 | g.209615363_209615364del | CA2586967981 | LAMB3 | c.3428_3429del (p.Arg1143LeufsTer16) c.3236_3237del (p.Arg1079LeufsTer16) | |
| 1 | g.209615362del | CA2650319475 | LAMB3 | c.3428del (p.Arg1143ProfsTer5) c.3236del (p.Arg1079ProfsTer5) | gnomAD v4 |
| 1 | g.209615362C>A | CA344581075 | LAMB3 | c.3428G>T (p.Arg1143Leu) c.3236G>T (p.Arg1079Leu) | dbSNP |
| 1 | g.209615362C= | CA2484295010 | LAMB3 | c.3428G= (p.Arg1143=) c.3236G= (p.Arg1079=) | |
| 1 | g.209615362C>G | CA344581076 | LAMB3 | c.3428G>C (p.Arg1143Pro) c.3236G>C (p.Arg1079Pro) | |
| 1 | g.209615362C>T | CA344581079 | LAMB3 | c.3428G>A (p.Arg1143His) c.3236G>A (p.Arg1079His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615363G>A | CA1374861 | LAMB3 | c.3427C>T (p.Arg1143Cys) c.3235C>T (p.Arg1079Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615363G>C | CA344581085 | LAMB3 | c.3427C>G (p.Arg1143Gly) c.3235C>G (p.Arg1079Gly) | gnomAD v4 |
| 1 | g.209615363G= | CA1143781496 | LAMB3 | c.3427C= (p.Arg1143=) c.3235C= (p.Arg1079=) | |
| 1 | g.209615363G>T | CA344581087 | LAMB3 | c.3427C>A (p.Arg1143Ser) c.3235C>A (p.Arg1079Ser) | |
| 1 | g.209615365_209615375del | CA2747561638 | LAMB3 | c.3417_3427del (p.Ile1140LeufsTer16) c.3225_3235del (p.Ile1076LeufsTer16) | |
| 1 | g.209615364C>A | CA423028231 | LAMB3 | c.3426G>T (p.Leu1142=) c.3234G>T (p.Leu1078=) | |
| 1 | g.209615364C= | CA2484295011 | LAMB3 | c.3426G= (p.Leu1142=) c.3234G= (p.Leu1078=) | |
| 1 | g.209615364C>G | CA423028232 | LAMB3 | c.3426G>C (p.Leu1142=) c.3234G>C (p.Leu1078=) | |
| 1 | g.209615364C>T | CA1374862 | LAMB3 | c.3426G>A (p.Leu1142=) c.3234G>A (p.Leu1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209615365A>C | CA344581097 | LAMB3 | c.3425T>G (p.Leu1142Arg) c.3233T>G (p.Leu1078Arg) | |
| 1 | g.209615365A>G | CA344581095 | LAMB3 | c.3425T>C (p.Leu1142Pro) c.3233T>C (p.Leu1078Pro) | |
| 1 | g.209615365A>T | CA344581094 | LAMB3 | c.3425T>A (p.Leu1142Gln) c.3233T>A (p.Leu1078Gln) | |
| 1 | g.209615366G>A | CA423028233 | LAMB3 | c.3424C>T (p.Leu1142=) c.3232C>T (p.Leu1078=) | |
| 1 | g.209615366G>C | CA344581098 | LAMB3 | c.3424C>G (p.Leu1142Val) c.3232C>G (p.Leu1078Val) | |
| 1 | g.209615366G>T | CA344581100 | LAMB3 | c.3424C>A (p.Leu1142Met) c.3232C>A (p.Leu1078Met) | |
| 1 | g.209615367C>A | CA344581103 | LAMB3 | c.3423G>T (p.Met1141Ile) c.3231G>T (p.Met1077Ile) | |
| 1 | g.209615367C>G | CA344581105 | LAMB3 | c.3423G>C (p.Met1141Ile) c.3231G>C (p.Met1077Ile) | |
| 1 | g.209615367C>T | CA344581104 | LAMB3 | c.3423G>A (p.Met1141Ile) c.3231G>A (p.Met1077Ile) | |
| 1 | g.209615368A= | CA2484295012 | LAMB3 | c.3422T= (p.Met1141=) c.3230T= (p.Met1077=) | |
| 1 | g.209615368A>C | CA344581109 | LAMB3 | c.3422T>G (p.Met1141Arg) c.3230T>G (p.Met1077Arg) | |
| 1 | g.209615368A>G | CA344581112 | LAMB3 | c.3422T>C (p.Met1141Thr) c.3230T>C (p.Met1077Thr) | dbSNP gnomAD v2 |
| 1 | g.209615368A>T | CA344581114 | LAMB3 | c.3422T>A (p.Met1141Lys) c.3230T>A (p.Met1077Lys) | |
| 1 | g.209615369T>A | CA1374863 | LAMB3 | c.3421A>T (p.Met1141Leu) c.3229A>T (p.Met1077Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615369T>C | CA344581120 | LAMB3 | c.3421A>G (p.Met1141Val) c.3229A>G (p.Met1077Val) | dbSNP gnomAD v2 |
| 1 | g.209615369T>G | CA344581122 | LAMB3 | c.3421A>C (p.Met1141Leu) c.3229A>C (p.Met1077Leu) | |
| 1 | g.209615369T= | CA2484295013 | LAMB3 | c.3421A= (p.Met1141=) c.3229A= (p.Met1077=) | |
| 1 | g.209615370G>A | CA423028235 | LAMB3 | c.3420C>T (p.Ile1140=) c.3228C>T (p.Ile1076=) | COSMIC |
| 1 | g.209615370G>C | CA344581124 | LAMB3 | c.3420C>G (p.Ile1140Met) c.3228C>G (p.Ile1076Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209615370G= | CA2484295014 | LAMB3 | c.3420C= (p.Ile1140=) c.3228C= (p.Ile1076=) | |
| 1 | g.209615370G>T | CA423028236 | LAMB3 | c.3420C>A (p.Ile1140=) c.3228C>A (p.Ile1076=) | gnomAD v4 |
| 1 | g.209615371A>C | CA344581128 | LAMB3 | c.3419T>G (p.Ile1140Ser) c.3227T>G (p.Ile1076Ser) | |
| 1 | g.209615371A>G | CA344581130 | LAMB3 | c.3419T>C (p.Ile1140Thr) c.3227T>C (p.Ile1076Thr) | gnomAD v4 |
| 1 | g.209615371A>T | CA344581132 | LAMB3 | c.3419T>A (p.Ile1140Asn) c.3227T>A (p.Ile1076Asn) | |
| 1 | g.209615372T>A | CA344581136 | LAMB3 | c.3418A>T (p.Ile1140Phe) c.3226A>T (p.Ile1076Phe) | |
| 1 | g.209615372T>C | CA344581139 | LAMB3 | c.3418A>G (p.Ile1140Val) c.3226A>G (p.Ile1076Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615372T>G | CA344581141 | LAMB3 | c.3418A>C (p.Ile1140Leu) c.3226A>C (p.Ile1076Leu) | dbSNP gnomAD v4 |
| 1 | g.209615372T= | CA2484295015 | LAMB3 | c.3418A= (p.Ile1140=) c.3226A= (p.Ile1076=) | |
| 1 | g.209615373G>A | CA423028237 | LAMB3 | c.3417C>T (p.Ala1139=) c.3225C>T (p.Ala1075=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209615373G>C | CA423028239 | LAMB3 | c.3417C>G (p.Ala1139=) c.3225C>G (p.Ala1075=) | ClinVar dbSNP |
| 1 | g.209615373G= | CA2484295016 | LAMB3 | c.3417C= (p.Ala1139=) c.3225C= (p.Ala1075=) | |
| 1 | g.209615373G>T | CA423028240 | LAMB3 | c.3417C>A (p.Ala1139=) c.3225C>A (p.Ala1075=) | |
| 1 | g.209615374G>A | CA344581144 | LAMB3 | c.3416C>T (p.Ala1139Val) c.3224C>T (p.Ala1075Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209615374G>C | CA344581148 | LAMB3 | c.3416C>G (p.Ala1139Gly) c.3224C>G (p.Ala1075Gly) | gnomAD v4 |
| 1 | g.209615374G= | CA2484295017 | LAMB3 | c.3416C= (p.Ala1139=) c.3224C= (p.Ala1075=) | |
| 1 | g.209615374G>T | CA344581146 | LAMB3 | c.3416C>A (p.Ala1139Asp) c.3224C>A (p.Ala1075Asp) | gnomAD v4 |
| 1 | g.209615375C>A | CA344581150 | LAMB3 | c.3415G>T (p.Ala1139Ser) c.3223G>T (p.Ala1075Ser) | |
| 1 | g.209615375C= | CA2484295018 | LAMB3 | c.3415G= (p.Ala1139=) c.3223G= (p.Ala1075=) | |
| 1 | g.209615375C>G | CA36743026 | LAMB3 | c.3415G>C (p.Ala1139Pro) c.3223G>C (p.Ala1075Pro) | dbSNP |
| 1 | g.209615375C>T | CA344581152 | LAMB3 | c.3415G>A (p.Ala1139Thr) c.3223G>A (p.Ala1075Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615376C>A | CA344581154 | LAMB3 | c.3414G>T (p.Gln1138His) c.3222G>T (p.Gln1074His) | |
| 1 | g.209615376C= | CA2484295019 | LAMB3 | c.3414G= (p.Gln1138=) c.3222G= (p.Gln1074=) | |
| 1 | g.209615376C>G | CA344581155 | LAMB3 | c.3414G>C (p.Gln1138His) c.3222G>C (p.Gln1074His) | |
| 1 | g.209615376C>T | CA1374864 | LAMB3 | c.3414G>A (p.Gln1138=) c.3222G>A (p.Gln1074=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.209615377T>A | CA344581158 | LAMB3 | c.3413A>T (p.Gln1138Leu) c.3221A>T (p.Gln1074Leu) | |
| 1 | g.209615377T>C | CA1374865 | LAMB3 | c.3413A>G (p.Gln1138Arg) c.3221A>G (p.Gln1074Arg) | dbSNP ExAC gnomAD v4 |
| 1 | g.209615377T>G | CA344581160 | LAMB3 | c.3413A>C (p.Gln1138Pro) c.3221A>C (p.Gln1074Pro) | |
| 1 | g.209615377T= | CA1148717324 | LAMB3 | c.3413A= (p.Gln1138=) c.3221A= (p.Gln1074=) | |
| 1 | g.209615378G>A | CA344581167 | LAMB3 | c.3412C>T (p.Gln1138Ter) c.3220C>T (p.Gln1074Ter) | |
| 1 | g.209615378G>C | CA344581165 | LAMB3 | c.3412C>G (p.Gln1138Glu) c.3220C>G (p.Gln1074Glu) | |
| 1 | g.209615378G>T | CA344581163 | LAMB3 | c.3412C>A (p.Gln1138Lys) c.3220C>A (p.Gln1074Lys) | |
| 1 | g.209615379G>A | CA1374866 | LAMB3 | c.3411C>T (p.Ser1137=) c.3219C>T (p.Ser1073=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209615379G>C | CA344581170 | LAMB3 | c.3411C>G (p.Ser1137Arg) c.3219C>G (p.Ser1073Arg) | gnomAD v4 |
| 1 | g.209615379G= | CA2484295020 | LAMB3 | c.3411C= (p.Ser1137=) c.3219C= (p.Ser1073=) | |
| 1 | g.209615379G>T | CA344581172 | LAMB3 | c.3411C>A (p.Ser1137Arg) c.3219C>A (p.Ser1073Arg) | dbSNP gnomAD v4 |