| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625694_209625695del | CA2586964552 | LAMB3 | c.1931_1932del (p.Thr644ArgfsTer?) c.1739_1740del (p.Thr580ArgfsTer?) | |
| 1 | g.209625694T>A | CA344589112 | LAMB3 | c.1930A>T (p.Thr644Ser) c.1738A>T (p.Thr580Ser) | |
| 1 | g.209625694T>C | CA344589114 | LAMB3 | c.1930A>G (p.Thr644Ala) c.1738A>G (p.Thr580Ala) | |
| 1 | g.209625694T>G | CA344589113 | LAMB3 | c.1930A>C (p.Thr644Pro) c.1738A>C (p.Thr580Pro) | |
| 1 | g.209625695G>A | CA423142566 | LAMB3 | c.1929C>T (p.Val643=) c.1737C>T (p.Val579=) | |
| 1 | g.209625695G>C | CA423142567 | LAMB3 | c.1929C>G (p.Val643=) c.1737C>G (p.Val579=) | |
| 1 | g.209625695G= | CA2484299200 | LAMB3 | c.1929C= (p.Val643=) c.1737C= (p.Val579=) | |
| 1 | g.209625695G>T | CA423142565 | LAMB3 | c.1929C>A (p.Val643=) c.1737C>A (p.Val579=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209625696A>C | CA344589115 | LAMB3 | c.1928T>G (p.Val643Gly) c.1736T>G (p.Val579Gly) | |
| 1 | g.209625696A>G | CA344589116 | LAMB3 | c.1928T>C (p.Val643Ala) c.1736T>C (p.Val579Ala) | |
| 1 | g.209625696A>T | CA344589117 | LAMB3 | c.1928T>A (p.Val643Asp) c.1736T>A (p.Val579Asp) | |
| 1 | g.209625697C>A | CA344589118 | LAMB3 | c.1927G>T (p.Val643Phe) c.1735G>T (p.Val579Phe) | |
| 1 | g.209625697C= | CA2484299201 | LAMB3 | c.1927G= (p.Val643=) c.1735G= (p.Val579=) | |
| 1 | g.209625697C>G | CA344589119 | LAMB3 | c.1927G>C (p.Val643Leu) c.1735G>C (p.Val579Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625697C>T | CA344589120 | LAMB3 | c.1927G>A (p.Val643Ile) c.1735G>A (p.Val579Ile) | gnomAD v4 COSMIC |
| 1 | g.209625698T>A | CA423142573 | LAMB3 | c.1926A>T (p.Ala642=) c.1734A>T (p.Ala578=) | |
| 1 | g.209625698T>C | CA423142571 | LAMB3 | c.1926A>G (p.Ala642=) c.1734A>G (p.Ala578=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625698T>G | CA423142572 | LAMB3 | c.1926A>C (p.Ala642=) c.1734A>C (p.Ala578=) | |
| 1 | g.209625698T= | CA2484299202 | LAMB3 | c.1926A= (p.Ala642=) c.1734A= (p.Ala578=) | |
| 1 | g.209625699G>A | CA36756209 | LAMB3 | c.1925C>T (p.Ala642Val) c.1733C>T (p.Ala578Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625699G>C | CA344589121 | LAMB3 | c.1925C>G (p.Ala642Gly) c.1733C>G (p.Ala578Gly) | |
| 1 | g.209625699G= | CA2484299203 | LAMB3 | c.1925C= (p.Ala642=) c.1733C= (p.Ala578=) | |
| 1 | g.209625699G>T | CA344589122 | LAMB3 | c.1925C>A (p.Ala642Glu) c.1733C>A (p.Ala578Glu) | gnomAD v4 |
| 1 | g.209625700C>A | CA344589123 | LAMB3 | c.1924G>T (p.Ala642Ser) c.1732G>T (p.Ala578Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625700C= | CA2484299204 | LAMB3 | c.1924G= (p.Ala642=) c.1732G= (p.Ala578=) | |
| 1 | g.209625700C>G | CA344589124 | LAMB3 | c.1924G>C (p.Ala642Pro) c.1732G>C (p.Ala578Pro) | |
| 1 | g.209625700C>T | CA1375427 | LAMB3 | c.1924G>A (p.Ala642Thr) c.1732G>A (p.Ala578Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625701G>A | CA1375428 | LAMB3 | c.1923C>T (p.Pro641=) c.1731C>T (p.Pro577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625701G>C | CA423142576 | LAMB3 | c.1923C>G (p.Pro641=) c.1731C>G (p.Pro577=) | |
| 1 | g.209625701G= | CA2484299205 | LAMB3 | c.1923C= (p.Pro641=) c.1731C= (p.Pro577=) | |
| 1 | g.209625701G>T | CA423142575 | LAMB3 | c.1923C>A (p.Pro641=) c.1731C>A (p.Pro577=) | |
| 1 | g.209625704del | CA2573051471 | LAMB3 | c.1923del (p.Ala642GlnfsTer?) c.1731del (p.Ala578GlnfsTer?) | dbSNP |
| 1 | g.209625702G>A | CA344589126 | LAMB3 | c.1922C>T (p.Pro641Leu) c.1730C>T (p.Pro577Leu) | COSMIC |
| 1 | g.209625702G>C | CA344589125 | LAMB3 | c.1922C>G (p.Pro641Arg) c.1730C>G (p.Pro577Arg) | |
| 1 | g.209625702G>T | CA344589127 | LAMB3 | c.1922C>A (p.Pro641His) c.1730C>A (p.Pro577His) | |
| 1 | g.209625703G>A | CA1375429 | LAMB3 | c.1921C>T (p.Pro641Ser) c.1729C>T (p.Pro577Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.209625703G>C | CA344589128 | LAMB3 | c.1921C>G (p.Pro641Ala) c.1729C>G (p.Pro577Ala) | |
| 1 | g.209625703G= | CA2484299206 | LAMB3 | c.1921C= (p.Pro641=) c.1729C= (p.Pro577=) | |
| 1 | g.209625703G>T | CA344589129 | LAMB3 | c.1921C>A (p.Pro641Thr) c.1729C>A (p.Pro577Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.209625704G>A | CA423142578 | LAMB3 | c.1920C>T (p.Ser640=) c.1728C>T (p.Ser576=) | |
| 1 | g.209625704G>C | CA344589130 | LAMB3 | c.1920C>G (p.Ser640Arg) c.1728C>G (p.Ser576Arg) | |
| 1 | g.209625704G= | CA2484299207 | LAMB3 | c.1920C= (p.Ser640=) c.1728C= (p.Ser576=) | |
| 1 | g.209625704G>T | CA344589131 | LAMB3 | c.1920C>A (p.Ser640Arg) c.1728C>A (p.Ser576Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209625705C>A | CA344589132 | LAMB3 | c.1919G>T (p.Ser640Ile) c.1727G>T (p.Ser576Ile) | |
| 1 | g.209625705C= | CA2484299208 | LAMB3 | c.1919G= (p.Ser640=) c.1727G= (p.Ser576=) | |
| 1 | g.209625705C>G | CA344589133 | LAMB3 | c.1919G>C (p.Ser640Thr) c.1727G>C (p.Ser576Thr) | COSMIC |
| 1 | g.209625705C>T | CA344589134 | LAMB3 | c.1919G>A (p.Ser640Asn) c.1727G>A (p.Ser576Asn) | dbSNP |
| 1 | g.209625706T>A | CA344589135 | LAMB3 | c.1918A>T (p.Ser640Cys) c.1726A>T (p.Ser576Cys) | |
| 1 | g.209625706T>C | CA344589136 | LAMB3 | c.1918A>G (p.Ser640Gly) c.1726A>G (p.Ser576Gly) | dbSNP |
| 1 | g.209625706T>G | CA344589137 | LAMB3 | c.1918A>C (p.Ser640Arg) c.1726A>C (p.Ser576Arg) |