Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209625793_209625801del | CA2747564043 | LAMB3 | c.1823_1831del (p.Ser608_Ser611delinsThr) c.1631_1639del (p.Ser544_Ser547delinsThr) | |
1 | g.209625795C>A | CA344589311 | LAMB3 | c.1829G>T (p.Trp610Leu) c.1637G>T (p.Trp546Leu) | |
1 | g.209625795C= | CA1143777576 | LAMB3 | c.1829G= (p.Trp610=) c.1637G= (p.Trp546=) | |
1 | g.209625795C>G | CA1375452 | LAMB3 | c.1829G>C (p.Trp610Ser) c.1637G>C (p.Trp546Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625795C>T | CA344589312 | LAMB3 | c.1829G>A (p.Trp610Ter) c.1637G>A (p.Trp546Ter) | ClinVar |
1 | g.209625796A>C | CA344589313 | LAMB3 | c.1828T>G (p.Trp610Gly) c.1636T>G (p.Trp546Gly) | |
1 | g.209625796A>G | CA344589314 | LAMB3 | c.1828T>C (p.Trp610Arg) c.1636T>C (p.Trp546Arg) | |
1 | g.209625796A>T | CA344589315 | LAMB3 | c.1828T>A (p.Trp610Arg) c.1636T>A (p.Trp546Arg) | |
1 | g.209625796_209625810delinsACAGGCTGGCGGTGG | CA2484299235 | LAMB3 | c.1814_1828delinsCCACCGCCAGCCTGT (p.Ala605=) c.1622_1636delinsCCACCGCCAGCCTGT (p.Ala541=) | |
1 | g.209625797C>A | CA423142645 | LAMB3 | c.1827G>T (p.Leu609=) c.1635G>T (p.Leu545=) | |
1 | g.209625797C= | CA2484299236 | LAMB3 | c.1827G= (p.Leu609=) c.1635G= (p.Leu545=) | |
1 | g.209625797C>G | CA423142644 | LAMB3 | c.1827G>C (p.Leu609=) c.1635G>C (p.Leu545=) | |
1 | g.209625797C>T | CA423142643 | LAMB3 | c.1827G>A (p.Leu609=) c.1635G>A (p.Leu545=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625799_209625812del | CA1011767307 | LAMB3 | c.1814_1827del (p.Ala605ValfsTer21) c.1622_1635del (p.Ala541ValfsTer21) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625798A= | CA2484299237 | LAMB3 | c.1826T= (p.Leu609=) c.1634T= (p.Leu545=) | |
1 | g.209625798A>C | CA344589316 | LAMB3 | c.1826T>G (p.Leu609Arg) c.1634T>G (p.Leu545Arg) | |
1 | g.209625798A>G | CA344589317 | LAMB3 | c.1826T>C (p.Leu609Pro) c.1634T>C (p.Leu545Pro) | |
1 | g.209625798A>T | CA36756296 | LAMB3 | c.1826T>A (p.Leu609Gln) c.1634T>A (p.Leu545Gln) | ClinVar dbSNP COSMIC |
1 | g.209625799G>A | CA423142646 | LAMB3 | c.1825C>T (p.Leu609=) c.1633C>T (p.Leu545=) | |
1 | g.209625799G>C | CA344589318 | LAMB3 | c.1825C>G (p.Leu609Val) c.1633C>G (p.Leu545Val) | |
1 | g.209625799G>T | CA344589319 | LAMB3 | c.1825C>A (p.Leu609Met) c.1633C>A (p.Leu545Met) | |
1 | g.209625800G>A | CA423142647 | LAMB3 | c.1824C>T (p.Ser608=) c.1632C>T (p.Ser544=) | |
1 | g.209625800G>C | CA344589320 | LAMB3 | c.1824C>G (p.Ser608Arg) c.1632C>G (p.Ser544Arg) | dbSNP |
1 | g.209625800G= | CA2484299238 | LAMB3 | c.1824C= (p.Ser608=) c.1632C= (p.Ser544=) | |
1 | g.209625800G>T | CA344589321 | LAMB3 | c.1824C>A (p.Ser608Arg) c.1632C>A (p.Ser544Arg) | |
1 | g.209625801C>A | CA344589322 | LAMB3 | c.1823G>T (p.Ser608Ile) c.1631G>T (p.Ser544Ile) | |
1 | g.209625801C>G | CA344589323 | LAMB3 | c.1823G>C (p.Ser608Thr) c.1631G>C (p.Ser544Thr) | |
1 | g.209625801C>T | CA344589324 | LAMB3 | c.1823G>A (p.Ser608Asn) c.1631G>A (p.Ser544Asn) | |
1 | g.209625801dup | CA16040694 | LAMB3 | c.1823dup (p.Ser608ArgfsTer23) c.1631dup (p.Ser544ArgfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625802T>A | CA344589325 | LAMB3 | c.1822A>T (p.Ser608Cys) c.1630A>T (p.Ser544Cys) | |
1 | g.209625802T>C | CA344589326 | LAMB3 | c.1822A>G (p.Ser608Gly) c.1630A>G (p.Ser544Gly) | |
1 | g.209625802T>G | CA344589327 | LAMB3 | c.1822A>C (p.Ser608Arg) c.1630A>C (p.Ser544Arg) | |
1 | g.209625803G>A | CA1375453 | LAMB3 | c.1821C>T (p.Ala607=) c.1629C>T (p.Ala543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625803G>C | CA423142649 | LAMB3 | c.1821C>G (p.Ala607=) c.1629C>G (p.Ala543=) | |
1 | g.209625803G= | CA2484299239 | LAMB3 | c.1821C= (p.Ala607=) c.1629C= (p.Ala543=) | |
1 | g.209625803G>T | CA423142648 | LAMB3 | c.1821C>A (p.Ala607=) c.1629C>A (p.Ala543=) | gnomAD v4 |
1 | g.209625805_209625807del | CA2747564044 | LAMB3 | c.1819_1821del (p.Ala607del) c.1627_1629del (p.Ala543del) | |
1 | g.209625804G>A | CA344589328 | LAMB3 | c.1820C>T (p.Ala607Val) c.1628C>T (p.Ala543Val) | |
1 | g.209625804G>C | CA344589329 | LAMB3 | c.1820C>G (p.Ala607Gly) c.1628C>G (p.Ala543Gly) | gnomAD v4 |
1 | g.209625804G>T | CA344589330 | LAMB3 | c.1820C>A (p.Ala607Asp) c.1628C>A (p.Ala543Asp) | |
1 | g.209625805C>A | CA344589332 | LAMB3 | c.1819G>T (p.Ala607Ser) c.1627G>T (p.Ala543Ser) | |
1 | g.209625805C= | CA1142372613 | LAMB3 | c.1819G= (p.Ala607=) c.1627G= (p.Ala543=) | |
1 | g.209625805C>G | CA344589331 | LAMB3 | c.1819G>C (p.Ala607Pro) c.1627G>C (p.Ala543Pro) | |
1 | g.209625805C>T | CA1375454 | LAMB3 | c.1819G>A (p.Ala607Thr) c.1627G>A (p.Ala543Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625806G>A | CA1375455 | LAMB3 | c.1818C>T (p.Thr606=) c.1626C>T (p.Thr542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625806G>C | CA423142650 | LAMB3 | c.1818C>G (p.Thr606=) c.1626C>G (p.Thr542=) | |
1 | g.209625806G= | CA2484299240 | LAMB3 | c.1818C= (p.Thr606=) c.1626C= (p.Thr542=) | |
1 | g.209625806G>T | CA423142651 | LAMB3 | c.1818C>A (p.Thr606=) c.1626C>A (p.Thr542=) | |
1 | g.209625807G>A | CA344589333 | LAMB3 | c.1817C>T (p.Thr606Ile) c.1625C>T (p.Thr542Ile) | |
1 | g.209625807G>C | CA344589334 | LAMB3 | c.1817C>G (p.Thr606Ser) c.1625C>G (p.Thr542Ser) |