| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209626876del | CA2586964560 | LAMB3 | c.1589del (p.Gly530AspfsTer30) c.1397del (p.Gly466AspfsTer30) | |
| 1 | g.209626875_209626877delinsCCT | CA2484299669 | LAMB3 | c.1587_1589delinsAGG (p.Thr529=) c.1395_1397delinsAGG (p.Thr465=) | |
| 1 | g.209626876C>A | CA344590067 | LAMB3 | c.1588G>T (p.Gly530Ter) c.1396G>T (p.Gly466Ter) | |
| 1 | g.209626876C= | CA2484299670 | LAMB3 | c.1588G= (p.Gly530=) c.1396G= (p.Gly466=) | |
| 1 | g.209626876C>G | CA344590066 | LAMB3 | c.1588G>C (p.Gly530Arg) c.1396G>C (p.Gly466Arg) | |
| 1 | g.209626876C>T | CA344590065 | LAMB3 | c.1588G>A (p.Gly530Arg) c.1396G>A (p.Gly466Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209626876_209626877del | CA257283 | LAMB3 | c.1587_1588del (p.Gly530MetfsTer5) c.1395_1396del (p.Gly466MetfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209626877T>A | CA423031199 | LAMB3 | c.1587A>T (p.Thr529=) c.1395A>T (p.Thr465=) | |
| 1 | g.209626877T>C | CA423031200 | LAMB3 | c.1587A>G (p.Thr529=) c.1395A>G (p.Thr465=) | ClinVar dbSNP |
| 1 | g.209626877T>G | CA423031201 | LAMB3 | c.1587A>C (p.Thr529=) c.1395A>C (p.Thr465=) | |
| 1 | g.209626878G>A | CA1375539 | LAMB3 | c.1586C>T (p.Thr529Ile) c.1394C>T (p.Thr465Ile) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.209626878G>C | CA344590068 | LAMB3 | c.1586C>G (p.Thr529Arg) c.1394C>G (p.Thr465Arg) | |
| 1 | g.209626878G= | CA2484299671 | LAMB3 | c.1586C= (p.Thr529=) c.1394C= (p.Thr465=) | |
| 1 | g.209626878G>T | CA344590069 | LAMB3 | c.1586C>A (p.Thr529Lys) c.1394C>A (p.Thr465Lys) | |
| 1 | g.209626879T>A | CA344590070 | LAMB3 | c.1585A>T (p.Thr529Ser) c.1393A>T (p.Thr465Ser) | |
| 1 | g.209626879T>C | CA344590071 | LAMB3 | c.1585A>G (p.Thr529Ala) c.1393A>G (p.Thr465Ala) | gnomAD v4 |
| 1 | g.209626879T>G | CA344590072 | LAMB3 | c.1585A>C (p.Thr529Pro) c.1393A>C (p.Thr465Pro) | |
| 1 | g.209626880G>A | CA423031202 | LAMB3 | c.1584C>T (p.Ala528=) c.1392C>T (p.Ala464=) | |
| 1 | g.209626880G>C | CA423031203 | LAMB3 | c.1584C>G (p.Ala528=) c.1392C>G (p.Ala464=) | |
| 1 | g.209626880G>T | CA423031204 | LAMB3 | c.1584C>A (p.Ala528=) c.1392C>A (p.Ala464=) | |
| 1 | g.209626881G>A | CA344590073 | LAMB3 | c.1583C>T (p.Ala528Val) c.1391C>T (p.Ala464Val) | |
| 1 | g.209626881G>C | CA344590074 | LAMB3 | c.1583C>G (p.Ala528Gly) c.1391C>G (p.Ala464Gly) | |
| 1 | g.209626881G>T | CA344590075 | LAMB3 | c.1583C>A (p.Ala528Asp) c.1391C>A (p.Ala464Asp) | |
| 1 | g.209626882C>A | CA344590076 | LAMB3 | c.1582G>T (p.Ala528Ser) c.1390G>T (p.Ala464Ser) | COSMIC |
| 1 | g.209626882C= | CA2484299672 | LAMB3 | c.1582G= (p.Ala528=) c.1390G= (p.Ala464=) | |
| 1 | g.209626882C>G | CA344590077 | LAMB3 | c.1582G>C (p.Ala528Pro) c.1390G>C (p.Ala464Pro) | |
| 1 | g.209626882C>T | CA344590078 | LAMB3 | c.1582G>A (p.Ala528Thr) c.1390G>A (p.Ala464Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209626883C>A | CA423031210 | LAMB3 | c.1581G>T (p.Val527=) c.1389G>T (p.Val463=) | |
| 1 | g.209626883C>G | CA423031214 | LAMB3 | c.1581G>C (p.Val527=) c.1389G>C (p.Val463=) | |
| 1 | g.209626883C>T | CA423031215 | LAMB3 | c.1581G>A (p.Val527=) c.1389G>A (p.Val463=) | |
| 1 | g.209626884A= | CA2484299673 | LAMB3 | c.1580T= (p.Val527=) c.1388T= (p.Val463=) | |
| 1 | g.209626884A>C | CA344590081 | LAMB3 | c.1580T>G (p.Val527Gly) c.1388T>G (p.Val463Gly) | |
| 1 | g.209626884A>G | CA344590080 | LAMB3 | c.1580T>C (p.Val527Ala) c.1388T>C (p.Val463Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209626884A>T | CA344590079 | LAMB3 | c.1580T>A (p.Val527Glu) c.1388T>A (p.Val463Glu) | |
| 1 | g.209626885C>A | CA344590083 | LAMB3 | c.1579G>T (p.Val527Leu) c.1387G>T (p.Val463Leu) | |
| 1 | g.209626885C= | CA1139912089 | LAMB3 | c.1579G= (p.Val527=) c.1387G= (p.Val463=) | |
| 1 | g.209626885C>G | CA344590082 | LAMB3 | c.1579G>C (p.Val527Leu) c.1387G>C (p.Val463Leu) | |
| 1 | g.209626885C>T | CA1375540 | LAMB3 | c.1579G>A (p.Val527Met) c.1387G>A (p.Val463Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209626886G>A | CA1375541 | LAMB3 | c.1578C>T (p.Asp526=) c.1386C>T (p.Asp462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209626886G>C | CA344590084 | LAMB3 | c.1578C>G (p.Asp526Glu) c.1386C>G (p.Asp462Glu) | gnomAD v4 |
| 1 | g.209626886G= | CA1147275104 | LAMB3 | c.1578C= (p.Asp526=) c.1386C= (p.Asp462=) | |
| 1 | g.209626886G>T | CA36756929 | LAMB3 | c.1578C>A (p.Asp526Glu) c.1386C>A (p.Asp462Glu) | dbSNP |
| 1 | g.209626887T>A | CA344590087 | LAMB3 | c.1577A>T (p.Asp526Val) c.1385A>T (p.Asp462Val) | |
| 1 | g.209626887T>C | CA344590086 | LAMB3 | c.1577A>G (p.Asp526Gly) c.1385A>G (p.Asp462Gly) | |
| 1 | g.209626887T>G | CA344590085 | LAMB3 | c.1577A>C (p.Asp526Ala) c.1385A>C (p.Asp462Ala) | |
| 1 | g.209626888C>A | CA344590088 | LAMB3 | c.1576G>T (p.Asp526Tyr) c.1384G>T (p.Asp462Tyr) | |
| 1 | g.209626888C>G | CA344590089 | LAMB3 | c.1576G>C (p.Asp526His) c.1384G>C (p.Asp462His) | |
| 1 | g.209626888C>T | CA344590090 | LAMB3 | c.1576G>A (p.Asp526Asn) c.1384G>A (p.Asp462Asn) | dbSNP gnomAD v4 |
| 1 | g.209626889T>A | CA423031219 | LAMB3 | c.1575A>T (p.Gly525=) c.1383A>T (p.Gly461=) | |
| 1 | g.209626889T>C | CA423031218 | LAMB3 | c.1575A>G (p.Gly525=) c.1383A>G (p.Gly461=) |