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