| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209623693G>A | CA16040692 | LAMB3 | c.2170C>T (p.Gln724Ter) c.1978C>T (p.Gln660Ter) | ClinVar dbSNP |
| 1 | g.209623693G>C | CA344588575 | LAMB3 | c.2170C>G (p.Gln724Glu) c.1978C>G (p.Gln660Glu) | |
| 1 | g.209623693G= | CA2484298337 | LAMB3 | c.2170C= (p.Gln724=) c.1978C= (p.Gln660=) | |
| 1 | g.209623693G>T | CA344588576 | LAMB3 | c.2170C>A (p.Gln724Lys) c.1978C>A (p.Gln660Lys) | |
| 1 | g.209623694C>A | CA344588578 | LAMB3 | c.2169G>T (p.Glu723Asp) c.1977G>T (p.Glu659Asp) | gnomAD v4 |
| 1 | g.209623694C>G | CA344588577 | LAMB3 | c.2169G>C (p.Glu723Asp) c.1977G>C (p.Glu659Asp) | |
| 1 | g.209623694C>T | CA423142480 | LAMB3 | c.2169G>A (p.Glu723=) c.1977G>A (p.Glu659=) | |
| 1 | g.209623695del | CA2586964547 | LAMB3 | c.2168del (p.Glu723GlyfsTer?) c.1976del (p.Glu659GlyfsTer?) | |
| 1 | g.209623695T>A | CA344588579 | LAMB3 | c.2168A>T (p.Glu723Val) c.1976A>T (p.Glu659Val) | |
| 1 | g.209623695T>C | CA344588580 | LAMB3 | c.2168A>G (p.Glu723Gly) c.1976A>G (p.Glu659Gly) | |
| 1 | g.209623695T>G | CA344588581 | LAMB3 | c.2168A>C (p.Glu723Ala) c.1976A>C (p.Glu659Ala) | |
| 1 | g.209623696C>A | CA344588582 | LAMB3 | c.2167G>T (p.Glu723Ter) c.1975G>T (p.Glu659Ter) | |
| 1 | g.209623696C= | CA2484298338 | LAMB3 | c.2167G= (p.Glu723=) c.1975G= (p.Glu659=) | |
| 1 | g.209623696C>G | CA344588583 | LAMB3 | c.2167G>C (p.Glu723Gln) c.1975G>C (p.Glu659Gln) | |
| 1 | g.209623696C>T | CA36752718 | LAMB3 | c.2167G>A (p.Glu723Lys) c.1975G>A (p.Glu659Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209623697G>A | CA1375338 | LAMB3 | c.2166C>T (p.Tyr722=) c.1974C>T (p.Tyr658=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623697G>C | CA1375339 | LAMB3 | c.2166C>G (p.Tyr722Ter) c.1974C>G (p.Tyr658Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623697G= | CA1146168471 | LAMB3 | c.2166C= (p.Tyr722=) c.1974C= (p.Tyr658=) | |
| 1 | g.209623697G>T | CA344588584 | LAMB3 | c.2166C>A (p.Tyr722Ter) c.1974C>A (p.Tyr658Ter) | ClinVar |
| 1 | g.209623698T>A | CA344588585 | LAMB3 | c.2165A>T (p.Tyr722Phe) c.1973A>T (p.Tyr658Phe) | |
| 1 | g.209623698T>C | CA344588586 | LAMB3 | c.2165A>G (p.Tyr722Cys) c.1973A>G (p.Tyr658Cys) | |
| 1 | g.209623698T>G | CA344588587 | LAMB3 | c.2165A>C (p.Tyr722Ser) c.1973A>C (p.Tyr658Ser) | |
| 1 | g.209623699A= | CA2484298339 | LAMB3 | c.2164T= (p.Tyr722=) c.1972T= (p.Tyr658=) | |
| 1 | g.209623699A>C | CA344588588 | LAMB3 | c.2164T>G (p.Tyr722Asp) c.1972T>G (p.Tyr658Asp) | |
| 1 | g.209623699A>G | CA344588589 | LAMB3 | c.2164T>C (p.Tyr722His) c.1972T>C (p.Tyr658His) | gnomAD v4 |
| 1 | g.209623699A>T | CA1375340 | LAMB3 | c.2164T>A (p.Tyr722Asn) c.1972T>A (p.Tyr658Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623700G>A | CA1375341 | LAMB3 | c.2163C>T (p.Ala721=) c.1971C>T (p.Ala657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623700G>C | CA423142483 | LAMB3 | c.2163C>G (p.Ala721=) c.1971C>G (p.Ala657=) | |
| 1 | g.209623700G= | CA2484298340 | LAMB3 | c.2163C= (p.Ala721=) c.1971C= (p.Ala657=) | |
| 1 | g.209623700G>T | CA423142484 | LAMB3 | c.2163C>A (p.Ala721=) c.1971C>A (p.Ala657=) | |
| 1 | g.209623701G>A | CA344588590 | LAMB3 | c.2162C>T (p.Ala721Val) c.1970C>T (p.Ala657Val) | |
| 1 | g.209623701G>C | CA344588591 | LAMB3 | c.2162C>G (p.Ala721Gly) c.1970C>G (p.Ala657Gly) | |
| 1 | g.209623701G>T | CA344588592 | LAMB3 | c.2162C>A (p.Ala721Asp) c.1970C>A (p.Ala657Asp) | |
| 1 | g.209623702C>A | CA344588593 | LAMB3 | c.2161G>T (p.Ala721Ser) c.1969G>T (p.Ala657Ser) | |
| 1 | g.209623702C>G | CA344588594 | LAMB3 | c.2161G>C (p.Ala721Pro) c.1969G>C (p.Ala657Pro) | |
| 1 | g.209623702C>T | CA344588595 | LAMB3 | c.2161G>A (p.Ala721Thr) c.1969G>A (p.Ala657Thr) | gnomAD v4 |
| 1 | g.209623703T>A | CA423142486 | LAMB3 | c.2160A>T (p.Thr720=) c.1968A>T (p.Thr656=) | gnomAD v4 |
| 1 | g.209623703T>C | CA423142487 | LAMB3 | c.2160A>G (p.Thr720=) c.1968A>G (p.Thr656=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209623703T>G | CA423142488 | LAMB3 | c.2160A>C (p.Thr720=) c.1968A>C (p.Thr656=) | |
| 1 | g.209623703T= | CA2484298341 | LAMB3 | c.2160A= (p.Thr720=) c.1968A= (p.Thr656=) | |
| 1 | g.209623704G>A | CA1375342 | LAMB3 | c.2159C>T (p.Thr720Ile) c.1967C>T (p.Thr656Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209623704G>C | CA344588596 | LAMB3 | c.2159C>G (p.Thr720Arg) c.1967C>G (p.Thr656Arg) | |
| 1 | g.209623704G= | CA2484298342 | LAMB3 | c.2159C= (p.Thr720=) c.1967C= (p.Thr656=) | |
| 1 | g.209623704G>T | CA344588597 | LAMB3 | c.2159C>A (p.Thr720Lys) c.1967C>A (p.Thr656Lys) | |
| 1 | g.209623705T>A | CA344588598 | LAMB3 | c.2158A>T (p.Thr720Ser) c.1966A>T (p.Thr656Ser) | |
| 1 | g.209623705T>C | CA1375343 | LAMB3 | c.2158A>G (p.Thr720Ala) c.1966A>G (p.Thr656Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623705T>G | CA344588599 | LAMB3 | c.2158A>C (p.Thr720Pro) c.1966A>C (p.Thr656Pro) | dbSNP |
| 1 | g.209623705T= | CA2484298343 | LAMB3 | c.2158A= (p.Thr720=) c.1966A= (p.Thr656=) | |
| 1 | g.209623706G>A | CA1375344 | LAMB3 | c.2157C>T (p.Ser719=) c.1965C>T (p.Ser655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209623706G>C | CA344588600 | LAMB3 | c.2157C>G (p.Ser719Arg) c.1965C>G (p.Ser655Arg) |