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.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) | |
1 | g.209625807G>T | CA344589335 | LAMB3 | c.1817C>A (p.Thr606Asn) c.1625C>A (p.Thr542Asn) | |
1 | g.209625808T>A | CA344589336 | LAMB3 | c.1816A>T (p.Thr606Ser) c.1624A>T (p.Thr542Ser) | |
1 | g.209625808T>C | CA344589337 | LAMB3 | c.1816A>G (p.Thr606Ala) c.1624A>G (p.Thr542Ala) | |
1 | g.209625808T>G | CA344589338 | LAMB3 | c.1816A>C (p.Thr606Pro) c.1624A>C (p.Thr542Pro) | |
1 | g.209625809G>A | CA423142652 | LAMB3 | c.1815C>T (p.Ala605=) c.1623C>T (p.Ala541=) | gnomAD v4 |
1 | g.209625809G>C | CA423142653 | LAMB3 | c.1815C>G (p.Ala605=) c.1623C>G (p.Ala541=) | |
1 | g.209625809G>T | CA423142654 | LAMB3 | c.1815C>A (p.Ala605=) c.1623C>A (p.Ala541=) | |
1 | g.209625809_209625832del | CA2747564045 | LAMB3 | c.1792_1815del (p.Arg598_Ala605del) c.1600_1623del (p.Arg534_Ala541del) | |
1 | g.209625810G>A | CA344589339 | LAMB3 | c.1814C>T (p.Ala605Val) c.1622C>T (p.Ala541Val) | |
1 | g.209625810G>C | CA344589340 | LAMB3 | c.1814C>G (p.Ala605Gly) c.1622C>G (p.Ala541Gly) | |
1 | g.209625810G>T | CA344589341 | LAMB3 | c.1814C>A (p.Ala605Asp) c.1622C>A (p.Ala541Asp) | gnomAD v4 |
1 | g.209625811C>A | CA344589342 | LAMB3 | c.1813G>T (p.Ala605Ser) c.1621G>T (p.Ala541Ser) | |
1 | g.209625811C>G | CA344589343 | LAMB3 | c.1813G>C (p.Ala605Pro) c.1621G>C (p.Ala541Pro) | |
1 | g.209625811C>T | CA344589344 | LAMB3 | c.1813G>A (p.Ala605Thr) c.1621G>A (p.Ala541Thr) | |
1 | g.209625812A>C | CA344589346 | LAMB3 | c.1812T>G (p.Asn604Lys) c.1620T>G (p.Asn540Lys) | |
1 | g.209625812A>G | CA423142655 | LAMB3 | c.1812T>C (p.Asn604=) c.1620T>C (p.Asn540=) | |
1 | g.209625812A>T | CA344589345 | LAMB3 | c.1812T>A (p.Asn604Lys) c.1620T>A (p.Asn540Lys) | |
1 | g.209625813T>A | CA344589347 | LAMB3 | c.1811A>T (p.Asn604Ile) c.1619A>T (p.Asn540Ile) | |
1 | g.209625813T>C | CA344589349 | LAMB3 | c.1811A>G (p.Asn604Ser) c.1619A>G (p.Asn540Ser) | dbSNP gnomAD v4 |
1 | g.209625813T>G | CA344589348 | LAMB3 | c.1811A>C (p.Asn604Thr) c.1619A>C (p.Asn540Thr) | |
1 | g.209625813T= | CA2484299241 | LAMB3 | c.1811A= (p.Asn604=) c.1619A= (p.Asn540=) | |
1 | g.209625814T>A | CA344589350 | LAMB3 | c.1810A>T (p.Asn604Tyr) c.1618A>T (p.Asn540Tyr) | |
1 | g.209625814T>C | CA344589351 | LAMB3 | c.1810A>G (p.Asn604Asp) c.1618A>G (p.Asn540Asp) | |
1 | g.209625814T>G | CA344589352 | LAMB3 | c.1810A>C (p.Asn604His) c.1618A>C (p.Asn540His) | |
1 | g.209625815G>A | CA423142656 | LAMB3 | c.1809C>T (p.Arg603=) c.1617C>T (p.Arg539=) | dbSNP |
1 | g.209625815G>C | CA423142657 | LAMB3 | c.1809C>G (p.Arg603=) c.1617C>G (p.Arg539=) | |
1 | g.209625815G= | CA2484299242 | LAMB3 | c.1809C= (p.Arg603=) c.1617C= (p.Arg539=) | |
1 | g.209625815G>T | CA423142658 | LAMB3 | c.1809C>A (p.Arg603=) c.1617C>A (p.Arg539=) | |
1 | g.209625816C>A | CA1375456 | LAMB3 | c.1808G>T (p.Arg603Leu) c.1616G>T (p.Arg539Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625816C= | CA1141416399 | LAMB3 | c.1808G= (p.Arg603=) c.1616G= (p.Arg539=) | |
1 | g.209625816C>G | CA344589353 | LAMB3 | c.1808G>C (p.Arg603Pro) c.1616G>C (p.Arg539Pro) | |
1 | g.209625816C>T | CA1375457 | LAMB3 | c.1808G>A (p.Arg603His) c.1616G>A (p.Arg539His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625817G>A | CA1375458 | LAMB3 | c.1807C>T (p.Arg603Cys) c.1615C>T (p.Arg539Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625817G>C | CA344589354 | LAMB3 | c.1807C>G (p.Arg603Gly) c.1615C>G (p.Arg539Gly) | |
1 | g.209625817G= | CA1143981188 | LAMB3 | c.1807C= (p.Arg603=) c.1615C= (p.Arg539=) | |
1 | g.209625817G>T | CA344589355 | LAMB3 | c.1807C>A (p.Arg603Ser) c.1615C>A (p.Arg539Ser) | |
1 | g.209625818G>A | CA423142659 | LAMB3 | c.1806C>T (p.Leu602=) c.1614C>T (p.Leu538=) | ClinVar COSMIC |
1 | g.209625818G>C | CA423142660 | LAMB3 | c.1806C>G (p.Leu602=) c.1614C>G (p.Leu538=) | |
1 | g.209625818G= | CA2484299243 | LAMB3 | c.1806C= (p.Leu602=) c.1614C= (p.Leu538=) | |
1 | g.209625818G>T | CA423142661 | LAMB3 | c.1806C>A (p.Leu602=) c.1614C>A (p.Leu538=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625819A>C | CA344589356 | LAMB3 | c.1805T>G (p.Leu602Arg) c.1613T>G (p.Leu538Arg) | |
1 | g.209625819A>G | CA344589357 | LAMB3 | c.1805T>C (p.Leu602Pro) c.1613T>C (p.Leu538Pro) | gnomAD v4 |
1 | g.209625819A>T | CA344589358 | LAMB3 | c.1805T>A (p.Leu602His) c.1613T>A (p.Leu538His) | |
1 | g.209625820G>A | CA344589361 | LAMB3 | c.1804C>T (p.Leu602Phe) c.1612C>T (p.Leu538Phe) | |
1 | g.209625820G>C | CA344589360 | LAMB3 | c.1804C>G (p.Leu602Val) c.1612C>G (p.Leu538Val) | |
1 | g.209625820G>T | CA344589359 | LAMB3 | c.1804C>A (p.Leu602Ile) c.1612C>A (p.Leu538Ile) | |
1 | g.209625821T>A | CA344589362 | LAMB3 | c.1803A>T (p.Arg601Ser) c.1611A>T (p.Arg537Ser) | |
1 | g.209625821T>C | CA423142662 | LAMB3 | c.1803A>G (p.Arg601=) c.1611A>G (p.Arg537=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625821T>G | CA344589363 | LAMB3 | c.1803A>C (p.Arg601Ser) c.1611A>C (p.Arg537Ser) | |
1 | g.209625822del | CA2586964554 | LAMB3 | c.1802del (p.Arg601AsnfsTer25) c.1610del (p.Arg537AsnfsTer25) | |
1 | g.209625822C>A | CA344589364 | LAMB3 | c.1802G>T (p.Arg601Ile) c.1610G>T (p.Arg537Ile) | |
1 | g.209625822C>G | CA344589365 | LAMB3 | c.1802G>C (p.Arg601Thr) c.1610G>C (p.Arg537Thr) | |
1 | g.209625822C>T | CA344589366 | LAMB3 | c.1802G>A (p.Arg601Lys) c.1610G>A (p.Arg537Lys) | |
1 | g.209625823T>A | CA344589367 | LAMB3 | c.1801A>T (p.Arg601Ter) c.1609A>T (p.Arg537Ter) | |
1 | g.209625823T>C | CA344589368 | LAMB3 | c.1801A>G (p.Arg601Gly) c.1609A>G (p.Arg537Gly) | |
1 | g.209625823T>G | CA423142663 | LAMB3 | c.1801A>C (p.Arg601=) c.1609A>C (p.Arg537=) | |
1 | g.209625824A>C | CA423142664 | LAMB3 | c.1800T>G (p.Gly600=) c.1608T>G (p.Gly536=) | |
1 | g.209625824A>G | CA423142665 | LAMB3 | c.1800T>C (p.Gly600=) c.1608T>C (p.Gly536=) | |
1 | g.209625824A>T | CA423142666 | LAMB3 | c.1800T>A (p.Gly600=) c.1608T>A (p.Gly536=) | |
1 | g.209625825C>A | CA344589369 | LAMB3 | c.1799G>T (p.Gly600Val) c.1607G>T (p.Gly536Val) | |
1 | g.209625825C= | CA2484299244 | LAMB3 | c.1799G= (p.Gly600=) c.1607G= (p.Gly536=) | |
1 | g.209625825C>G | CA344589370 | LAMB3 | c.1799G>C (p.Gly600Ala) c.1607G>C (p.Gly536Ala) | |
1 | g.209625825C>T | CA344589371 | LAMB3 | c.1799G>A (p.Gly600Asp) c.1607G>A (p.Gly536Asp) | dbSNP |
1 | g.209625826C>A | CA344589372 | LAMB3 | c.1798G>T (p.Gly600Cys) c.1606G>T (p.Gly536Cys) | |
1 | g.209625826C= | CA2484299245 | LAMB3 | c.1798G= (p.Gly600=) c.1606G= (p.Gly536=) | |
1 | g.209625826C>G | CA344589373 | LAMB3 | c.1798G>C (p.Gly600Arg) c.1606G>C (p.Gly536Arg) | |
1 | g.209625826C>T | CA344589374 | LAMB3 | c.1798G>A (p.Gly600Ser) c.1606G>A (p.Gly536Ser) | |
1 | g.209625827A>C | CA344589375 | LAMB3 | c.1797T>G (p.Phe599Leu) c.1605T>G (p.Phe535Leu) | |
1 | g.209625827A>G | CA423142667 | LAMB3 | c.1797T>C (p.Phe599=) c.1605T>C (p.Phe535=) | |
1 | g.209625827A>T | CA344589376 | LAMB3 | c.1797T>A (p.Phe599Leu) c.1605T>A (p.Phe535Leu) | |
1 | g.209625827_209625829delinsAAA | CA1140590616 | LAMB3 | c.1795_1797delinsTTT (p.Phe599=) c.1603_1605delinsTTT (p.Phe535=) | |
1 | g.209625829dup | CA36756319 | LAMB3 | c.1797dup (p.Gly600TrpfsTer2) c.1605dup (p.Gly536TrpfsTer2) | dbSNP |
1 | g.209625828A>C | CA344589377 | LAMB3 | c.1796T>G (p.Phe599Cys) c.1604T>G (p.Phe535Cys) | |
1 | g.209625828A>G | CA344589378 | LAMB3 | c.1796T>C (p.Phe599Ser) c.1604T>C (p.Phe535Ser) | |
1 | g.209625828A>T | CA344589379 | LAMB3 | c.1796T>A (p.Phe599Tyr) c.1604T>A (p.Phe535Tyr) | |
1 | g.209625829A= | CA1149131863 | LAMB3 | c.1795T= (p.Phe599=) c.1603T= (p.Phe535=) | |
1 | g.209625829A>C | CA344589380 | LAMB3 | c.1795T>G (p.Phe599Val) c.1603T>G (p.Phe535Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625829A>G | CA1375459 | LAMB3 | c.1795T>C (p.Phe599Leu) c.1603T>C (p.Phe535Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625829A>T | CA344589381 | LAMB3 | c.1795T>A (p.Phe599Ile) c.1603T>A (p.Phe535Ile) | |
1 | g.209625829_209625830insCACACCCA | CA2747564046 | LAMB3 | c.1795_1796insGGGTGTGT (p.Phe599TrpfsTer30) c.1603_1604insGGGTGTGT (p.Phe535TrpfsTer30) | |
1 | g.209625830G>A | CA1375460 | LAMB3 | c.1794C>T (p.Arg598=) c.1602C>T (p.Arg534=) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.209625830G>C | CA423142668 | LAMB3 | c.1794C>G (p.Arg598=) c.1602C>G (p.Arg534=) | |
1 | g.209625830G= | CA1144207122 | LAMB3 | c.1794C= (p.Arg598=) c.1602C= (p.Arg534=) | |
1 | g.209625830G>T | CA423142669 | LAMB3 | c.1794C>A (p.Arg598=) c.1602C>A (p.Arg534=) | |
1 | g.209625831C>A | CA344589382 | LAMB3 | c.1793G>T (p.Arg598Leu) c.1601G>T (p.Arg534Leu) | |
1 | g.209625831C= | CA1141687432 | LAMB3 | c.1793G= (p.Arg598=) c.1601G= (p.Arg534=) | |
1 | g.209625831C>G | CA344589383 | LAMB3 | c.1793G>C (p.Arg598Pro) c.1601G>C (p.Arg534Pro) | gnomAD v4 |
1 | g.209625831C>T | CA1375461 | LAMB3 | c.1793G>A (p.Arg598His) c.1601G>A (p.Arg534His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625831dup | CA2484299246 | LAMB3 | c.1793dup (p.Phe599LeufsTer3) c.1601dup (p.Phe535LeufsTer3) | dbSNP |
1 | g.209625831_209625832insA | CA2697554870 | LAMB3 | c.1792_1793insT (p.Arg598LeufsTer4) c.1600_1601insT (p.Arg534LeufsTer4) | ClinVar |
1 | g.209625832G>A | CA248955 | LAMB3 | c.1792C>T (p.Arg598Cys) c.1600C>T (p.Arg534Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625832G>C | CA344589384 | LAMB3 | c.1792C>G (p.Arg598Gly) c.1600C>G (p.Arg534Gly) | |
1 | g.209625832G= | CA1141687433 | LAMB3 | c.1792C= (p.Arg598=) c.1600C= (p.Arg534=) | |
1 | g.209625832G>T | CA344589385 | LAMB3 | c.1792C>A (p.Arg598Ser) c.1600C>A (p.Arg534Ser) | gnomAD v4 |
1 | g.209625833C>A | CA423142672 | LAMB3 | c.1791G>T (p.Leu597=) c.1599G>T (p.Leu533=) | |
1 | g.209625833C= | CA2484299247 | LAMB3 | c.1791G= (p.Leu597=) c.1599G= (p.Leu533=) | |
1 | g.209625833C>G | CA423142671 | LAMB3 | c.1791G>C (p.Leu597=) c.1599G>C (p.Leu533=) | |
1 | g.209625833C>T | CA423142670 | LAMB3 | c.1791G>A (p.Leu597=) c.1599G>A (p.Leu533=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625834A>C | CA344589387 | LAMB3 | c.1790T>G (p.Leu597Arg) c.1598T>G (p.Leu533Arg) | |
1 | g.209625834A>G | CA344589388 | LAMB3 | c.1790T>C (p.Leu597Pro) c.1598T>C (p.Leu533Pro) | |
1 | g.209625834A>T | CA344589386 | LAMB3 | c.1790T>A (p.Leu597Gln) c.1598T>A (p.Leu533Gln) | COSMIC |
1 | g.209625835G>A | CA423142673 | LAMB3 | c.1789C>T (p.Leu597=) c.1597C>T (p.Leu533=) | dbSNP |
1 | g.209625835G>C | CA344589389 | LAMB3 | c.1789C>G (p.Leu597Val) c.1597C>G (p.Leu533Val) | |
1 | g.209625835G= | CA2484299248 | LAMB3 | c.1789C= (p.Leu597=) c.1597C= (p.Leu533=) | |
1 | g.209625835G>T | CA344589390 | LAMB3 | c.1789C>A (p.Leu597Met) c.1597C>A (p.Leu533Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625836G>A | CA423142674 | LAMB3 | c.1788C>T (p.Ala596=) c.1596C>T (p.Ala532=) | gnomAD v4 |
1 | g.209625836G>C | CA423142675 | LAMB3 | c.1788C>G (p.Ala596=) c.1596C>G (p.Ala532=) | |
1 | g.209625836G>T | CA423142676 | LAMB3 | c.1788C>A (p.Ala596=) c.1596C>A (p.Ala532=) | |
1 | g.209625837G>A | CA1375462 | LAMB3 | c.1787C>T (p.Ala596Val) c.1595C>T (p.Ala532Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625837G>C | CA344589391 | LAMB3 | c.1787C>G (p.Ala596Gly) c.1595C>G (p.Ala532Gly) | |
1 | g.209625837G= | CA1143760869 | LAMB3 | c.1787C= (p.Ala596=) c.1595C= (p.Ala532=) | |
1 | g.209625837G>T | CA344589392 | LAMB3 | c.1787C>A (p.Ala596Asp) c.1595C>A (p.Ala532Asp) | |
1 | g.209625838C>A | CA1375463 | LAMB3 | c.1786G>T (p.Ala596Ser) c.1594G>T (p.Ala532Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625838C= | CA1143967328 | LAMB3 | c.1786G= (p.Ala596=) c.1594G= (p.Ala532=) | |
1 | g.209625838C>G | CA344589393 | LAMB3 | c.1786G>C (p.Ala596Pro) c.1594G>C (p.Ala532Pro) | gnomAD v4 |
1 | g.209625838C>T | CA1375464 | LAMB3 | c.1786G>A (p.Ala596Thr) c.1594G>A (p.Ala532Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625839C>A | CA344589394 | LAMB3 | c.1785G>T (p.Gln595His) c.1593G>T (p.Gln531His) | |
1 | g.209625839C= | CA2484299249 | LAMB3 | c.1785G= (p.Gln595=) c.1593G= (p.Gln531=) | |
1 | g.209625839C>G | CA344589395 | LAMB3 | c.1785G>C (p.Gln595His) c.1593G>C (p.Gln531His) | |
1 | g.209625839C>T | CA423142677 | LAMB3 | c.1785G>A (p.Gln595=) c.1593G>A (p.Gln531=) | ClinVar dbSNP |
1 | g.209625840T>A | CA344589396 | LAMB3 | c.1784A>T (p.Gln595Leu) c.1592A>T (p.Gln531Leu) | |
1 | g.209625840T>C | CA344589397 | LAMB3 | c.1784A>G (p.Gln595Arg) c.1592A>G (p.Gln531Arg) | |
1 | g.209625840T>G | CA344589398 | LAMB3 | c.1784A>C (p.Gln595Pro) c.1592A>C (p.Gln531Pro) | gnomAD v4 |
1 | g.209625841G>A | CA344589399 | LAMB3 | c.1783C>T (p.Gln595Ter) c.1591C>T (p.Gln531Ter) | ClinVar dbSNP |
1 | g.209625841G>C | CA344589401 | LAMB3 | c.1783C>G (p.Gln595Glu) c.1591C>G (p.Gln531Glu) | |
1 | g.209625841G= | CA2484299250 | LAMB3 | c.1783C= (p.Gln595=) c.1591C= (p.Gln531=) | |
1 | g.209625841G>T | CA344589400 | LAMB3 | c.1783C>A (p.Gln595Lys) c.1591C>A (p.Gln531Lys) | |
1 | g.209625841_209625842insGG | CA2747564047 | LAMB3 | c.1783_1784insCC (p.Gln595ProfsTer?) c.1591_1592insCC (p.Gln531ProfsTer?) | |
1 | g.209625842C>A | CA344589402 | LAMB3 | c.1782G>T (p.Glu594Asp) c.1590G>T (p.Glu530Asp) | |
1 | g.209625842C= | CA2484299251 | LAMB3 | c.1782G= (p.Glu594=) c.1590G= (p.Glu530=) | |
1 | g.209625842C>G | CA1375465 | LAMB3 | c.1782G>C (p.Glu594Asp) c.1590G>C (p.Glu530Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625842C>T | CA423142678 | LAMB3 | c.1782G>A (p.Glu594=) c.1590G>A (p.Glu530=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625843T>A | CA344589403 | LAMB3 | c.1781A>T (p.Glu594Val) c.1589A>T (p.Glu530Val) | |
1 | g.209625843T>C | CA344589404 | LAMB3 | c.1781A>G (p.Glu594Gly) c.1589A>G (p.Glu530Gly) | |
1 | g.209625843T>G | CA344589405 | LAMB3 | c.1781A>C (p.Glu594Ala) c.1589A>C (p.Glu530Ala) | |
1 | g.209625844C>A | CA344589406 | LAMB3 | c.1780G>T (p.Glu594Ter) c.1588G>T (p.Glu530Ter) | |
1 | g.209625844C>G | CA344589407 | LAMB3 | c.1780G>C (p.Glu594Gln) c.1588G>C (p.Glu530Gln) | |
1 | g.209625844C>T | CA344589408 | LAMB3 | c.1780G>A (p.Glu594Lys) c.1588G>A (p.Glu530Lys) | gnomAD v4 |
1 | g.209625844_209625846del | CA2747564048 | LAMB3 | c.1778_1780del (p.Arg593_Glu594delinsGln) c.1586_1588del (p.Arg529_Glu530delinsGln) | |
1 | g.209625845C>A | CA423142679 | LAMB3 | c.1779G>T (p.Arg593=) c.1587G>T (p.Arg529=) | |
1 | g.209625845C= | CA2484299252 | LAMB3 | c.1779G= (p.Arg593=) c.1587G= (p.Arg529=) | |
1 | g.209625845C>G | CA423142680 | LAMB3 | c.1779G>C (p.Arg593=) c.1587G>C (p.Arg529=) | |
1 | g.209625845C>T | CA423142681 | LAMB3 | c.1779G>A (p.Arg593=) c.1587G>A (p.Arg529=) | ClinVar dbSNP gnomAD v4 |
1 | g.209625846C>A | CA344589409 | LAMB3 | c.1778G>T (p.Arg593Leu) c.1586G>T (p.Arg529Leu) | gnomAD v4 COSMIC |
1 | g.209625846C= | CA1145713575 | LAMB3 | c.1778G= (p.Arg593=) c.1586G= (p.Arg529=) | |
1 | g.209625846C>G | CA344589410 | LAMB3 | c.1778G>C (p.Arg593Pro) c.1586G>C (p.Arg529Pro) | |
1 | g.209625846C>T | CA1375466 | LAMB3 | c.1778G>A (p.Arg593Gln) c.1586G>A (p.Arg529Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625847G>A | CA1375467 | LAMB3 | c.1777C>T (p.Arg593Trp) c.1585C>T (p.Arg529Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625847G>C | CA344589411 | LAMB3 | c.1777C>G (p.Arg593Gly) c.1585C>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625847G= | CA1142129111 | LAMB3 | c.1777C= (p.Arg593=) c.1585C= (p.Arg529=) | |
1 | g.209625847G>T | CA423142682 | LAMB3 | c.1777C>A (p.Arg593=) c.1585C>A (p.Arg529=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625848G>A | CA423142683 | LAMB3 | c.1776C>T (p.Leu592=) c.1584C>T (p.Leu528=) | |
1 | g.209625848G>C | CA423142684 | LAMB3 | c.1776C>G (p.Leu592=) c.1584C>G (p.Leu528=) | dbSNP |
1 | g.209625848G= | CA2484299253 | LAMB3 | c.1776C= (p.Leu592=) c.1584C= (p.Leu528=) | |
1 | g.209625848G>T | CA423142685 | LAMB3 | c.1776C>A (p.Leu592=) c.1584C>A (p.Leu528=) | |
1 | g.209625849A= | CA2484299254 | LAMB3 | c.1775T= (p.Leu592=) c.1583T= (p.Leu528=) | |
1 | g.209625849A>C | CA344589412 | LAMB3 | c.1775T>G (p.Leu592Arg) c.1583T>G (p.Leu528Arg) | |
1 | g.209625849A>G | CA344589413 | LAMB3 | c.1775T>C (p.Leu592Pro) c.1583T>C (p.Leu528Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625849A>T | CA344589414 | LAMB3 | c.1775T>A (p.Leu592His) c.1583T>A (p.Leu528His) | |
1 | g.209625850G>A | CA344589415 | LAMB3 | c.1774C>T (p.Leu592Phe) c.1582C>T (p.Leu528Phe) | |
1 | g.209625850G>C | CA344589417 | LAMB3 | c.1774C>G (p.Leu592Val) c.1582C>G (p.Leu528Val) | |
1 | g.209625850G= | CA2484299255 | LAMB3 | c.1774C= (p.Leu592=) c.1582C= (p.Leu528=) | |
1 | g.209625850G>T | CA344589416 | LAMB3 | c.1774C>A (p.Leu592Ile) c.1582C>A (p.Leu528Ile) | dbSNP |
1 | g.209625851G>A | CA423142686 | LAMB3 | c.1773C>T (p.Asp591=) c.1581C>T (p.Asp527=) | dbSNP gnomAD v4 |
1 | g.209625851G>C | CA344589418 | LAMB3 | c.1773C>G (p.Asp591Glu) c.1581C>G (p.Asp527Glu) | |
1 | g.209625851G= | CA2484299256 | LAMB3 | c.1773C= (p.Asp591=) c.1581C= (p.Asp527=) | |
1 | g.209625851G>T | CA344589419 | LAMB3 | c.1773C>A (p.Asp591Glu) c.1581C>A (p.Asp527Glu) | gnomAD v4 |
1 | g.209625852T>A | CA344589420 | LAMB3 | c.1772A>T (p.Asp591Val) c.1580A>T (p.Asp527Val) | |
1 | g.209625852T>C | CA344589421 | LAMB3 | c.1772A>G (p.Asp591Gly) c.1580A>G (p.Asp527Gly) | |
1 | g.209625852T>G | CA344589422 | LAMB3 | c.1772A>C (p.Asp591Ala) c.1580A>C (p.Asp527Ala) | |
1 | g.209625853C>A | CA344589424 | LAMB3 | c.1771G>T (p.Asp591Tyr) c.1579G>T (p.Asp527Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625853C= | CA2484299257 | LAMB3 | c.1771G= (p.Asp591=) c.1579G= (p.Asp527=) | |
1 | g.209625853C>G | CA344589425 | LAMB3 | c.1771G>C (p.Asp591His) c.1579G>C (p.Asp527His) | |
1 | g.209625853C>T | CA344589426 | LAMB3 | c.1771G>A (p.Asp591Asn) c.1579G>A (p.Asp527Asn) | dbSNP |
1 | g.209625854C>A | CA423142687 | LAMB3 | c.1770G>T (p.Ala590=) c.1578G>T (p.Ala526=) | |
1 | g.209625854C= | CA1141939592 | LAMB3 | c.1770G= (p.Ala590=) c.1578G= (p.Ala526=) | |
1 | g.209625854C>G | CA423142688 | LAMB3 | c.1770G>C (p.Ala590=) c.1578G>C (p.Ala526=) | |
1 | g.209625854C>T | CA1375468 | LAMB3 | c.1770G>A (p.Ala590=) c.1578G>A (p.Ala526=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625855G>A | CA1375469 | LAMB3 | c.1769C>T (p.Ala590Val) c.1577C>T (p.Ala526Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625855G>C | CA344589428 | LAMB3 | c.1769C>G (p.Ala590Gly) c.1577C>G (p.Ala526Gly) | |
1 | g.209625855G= | CA1141925505 | LAMB3 | c.1769C= (p.Ala590=) c.1577C= (p.Ala526=) | |
1 | g.209625855G>T | CA344589430 | LAMB3 | c.1769C>A (p.Ala590Glu) c.1577C>A (p.Ala526Glu) | gnomAD v4 |
1 | g.209625856C>A | CA344589432 | LAMB3 | c.1768G>T (p.Ala590Ser) c.1576G>T (p.Ala526Ser) | COSMIC |
1 | g.209625856C= | CA2484299258 | LAMB3 | c.1768G= (p.Ala590=) c.1576G= (p.Ala526=) | |
1 | g.209625856C>G | CA344589436 | LAMB3 | c.1768G>C (p.Ala590Pro) c.1576G>C (p.Ala526Pro) | |
1 | g.209625856C>T | CA344589434 | LAMB3 | c.1768G>A (p.Ala590Thr) c.1576G>A (p.Ala526Thr) | dbSNP gnomAD v4 |
1 | g.209625857A= | CA2484299259 | LAMB3 | c.1767T= (p.Asp589=) c.1575T= (p.Asp525=) | |
1 | g.209625857A>C | CA344589438 | LAMB3 | c.1767T>G (p.Asp589Glu) c.1575T>G (p.Asp525Glu) | gnomAD v4 |
1 | g.209625857A>G | CA1375470 | LAMB3 | c.1767T>C (p.Asp589=) c.1575T>C (p.Asp525=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625857A>T | CA344589441 | LAMB3 | c.1767T>A (p.Asp589Glu) c.1575T>A (p.Asp525Glu) | |
1 | g.209625858T>A | CA344589444 | LAMB3 | c.1766A>T (p.Asp589Val) c.1574A>T (p.Asp525Val) | |
1 | g.209625858T>C | CA344589445 | LAMB3 | c.1766A>G (p.Asp589Gly) c.1574A>G (p.Asp525Gly) | |
1 | g.209625858T>G | CA344589447 | LAMB3 | c.1766A>C (p.Asp589Ala) c.1574A>C (p.Asp525Ala) | |
1 | g.209625859C>A | CA344589449 | LAMB3 | c.1765G>T (p.Asp589Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625859C= | CA2484299260 | LAMB3 | c.1765G= (p.Asp589=) c.1573G= (p.Asp525=) | |
1 | g.209625859C>G | CA344589451 | LAMB3 | c.1765G>C (p.Asp589His) c.1573G>C (p.Asp525His) | |
1 | g.209625859C>T | CA344589453 | LAMB3 | c.1765G>A (p.Asp589Asn) c.1573G>A (p.Asp525Asn) | COSMIC |
1 | g.209625860A= | CA1139922146 | LAMB3 | c.1764T= (p.Tyr588=) c.1572T= (p.Tyr524=) | |
1 | g.209625860A>C | CA344589455 | LAMB3 | c.1764T>G (p.Tyr588Ter) c.1572T>G (p.Tyr524Ter) | |
1 | g.209625860A>G | CA1375471 | LAMB3 | c.1764T>C (p.Tyr588=) c.1572T>C (p.Tyr524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625860A>T | CA344589466 | LAMB3 | c.1764T>A (p.Tyr588Ter) c.1572T>A (p.Tyr524Ter) | |
1 | g.209625861T>A | CA344589471 | LAMB3 | c.1763A>T (p.Tyr588Phe) c.1571A>T (p.Tyr524Phe) | |
1 | g.209625861T>C | CA1375472 | LAMB3 | c.1763A>G (p.Tyr588Cys) c.1571A>G (p.Tyr524Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625861T>G | CA344589469 | LAMB3 | c.1763A>C (p.Tyr588Ser) c.1571A>C (p.Tyr524Ser) | |
1 | g.209625861T= | CA2484299261 | LAMB3 | c.1763A= (p.Tyr588=) c.1571A= (p.Tyr524=) | |
1 | g.209625862A>C | CA344589475 | LAMB3 | c.1762T>G (p.Tyr588Asp) c.1570T>G (p.Tyr524Asp) | gnomAD v4 |
1 | g.209625862A>G | CA344589476 | LAMB3 | c.1762T>C (p.Tyr588His) c.1570T>C (p.Tyr524His) | COSMIC |
1 | g.209625862A>T | CA344589478 | LAMB3 | c.1762T>A (p.Tyr588Asn) c.1570T>A (p.Tyr524Asn) | |
1 | g.209625863G>A | CA423142689 | LAMB3 | c.1761C>T (p.Thr587=) c.1569C>T (p.Thr523=) | gnomAD v3 gnomAD v4 |
1 | g.209625863G>C | CA423142690 | LAMB3 | c.1761C>G (p.Thr587=) c.1569C>G (p.Thr523=) | |
1 | g.209625863G= | CA1142775047 | LAMB3 | c.1761C= (p.Thr587=) c.1569C= (p.Thr523=) | |
1 | g.209625863G>T | CA1375473 | LAMB3 | c.1761C>A (p.Thr587=) c.1569C>A (p.Thr523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625864del | CA2586964555 | LAMB3 | c.1761del (p.Tyr588MetfsTer?) c.1569del (p.Tyr524MetfsTer?) | |
1 | g.209625864G>A | CA344589486 | LAMB3 | c.1760C>T (p.Thr587Ile) c.1568C>T (p.Thr523Ile) | |
1 | g.209625864G>C | CA344589484 | LAMB3 | c.1760C>G (p.Thr587Ser) c.1568C>G (p.Thr523Ser) | |
1 | g.209625864G>T | CA344589481 | LAMB3 | c.1760C>A (p.Thr587Asn) c.1568C>A (p.Thr523Asn) | |
1 | g.209625865T>A | CA344589489 | LAMB3 | c.1759A>T (p.Thr587Ser) c.1567A>T (p.Thr523Ser) | gnomAD v4 |
1 | g.209625865T>C | CA344589491 | LAMB3 | c.1759A>G (p.Thr587Ala) c.1567A>G (p.Thr523Ala) | |
1 | g.209625865T>G | CA344589493 | LAMB3 | c.1759A>C (p.Thr587Pro) c.1567A>C (p.Thr523Pro) | |
1 | g.209625866C>A | CA344589495 | LAMB3 | c.1758G>T (p.Gln586His) c.1566G>T (p.Gln522His) | |
1 | g.209625866C= | CA2484299262 | LAMB3 | c.1758G= (p.Gln586=) c.1566G= (p.Gln522=) | |
1 | g.209625866C>G | CA344589496 | LAMB3 | c.1758G>C (p.Gln586His) c.1566G>C (p.Gln522His) | |
1 | g.209625866C>T | CA1375474 | LAMB3 | c.1758G>A (p.Gln586=) c.1566G>A (p.Gln522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625867T>A | CA344589500 | LAMB3 | c.1757A>T (p.Gln586Leu) c.1565A>T (p.Gln522Leu) | |
1 | g.209625867T>C | CA344589503 | LAMB3 | c.1757A>G (p.Gln586Arg) c.1565A>G (p.Gln522Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625867T>G | CA344589502 | LAMB3 | c.1757A>C (p.Gln586Pro) c.1565A>C (p.Gln522Pro) | |
1 | g.209625867T= | CA2484299263 | LAMB3 | c.1757A= (p.Gln586=) c.1565A= (p.Gln522=) | |
1 | g.209625868G>A | CA1375475 | LAMB3 | c.1756C>T (p.Gln586Ter) c.1564C>T (p.Gln522Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625868G>C | CA344589507 | LAMB3 | c.1756C>G (p.Gln586Glu) c.1564C>G (p.Gln522Glu) | |
1 | g.209625868G= | CA1149147611 | LAMB3 | c.1756C= (p.Gln586=) c.1564C= (p.Gln522=) | |
1 | g.209625868G>T | CA344589508 | LAMB3 | c.1756C>A (p.Gln586Lys) c.1564C>A (p.Gln522Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625869G>A | CA423142691 | LAMB3 | c.1755C>T (p.Phe585=) c.1563C>T (p.Phe521=) | |
1 | g.209625869G>C | CA344589510 | LAMB3 | c.1755C>G (p.Phe585Leu) c.1563C>G (p.Phe521Leu) | dbSNP |
1 | g.209625869G= | CA2484299264 | LAMB3 | c.1755C= (p.Phe585=) c.1563C= (p.Phe521=) | |
1 | g.209625869G>T | CA344589512 | LAMB3 | c.1755C>A (p.Phe585Leu) c.1563C>A (p.Phe521Leu) | |
1 | g.209625870A>C | CA344589514 | LAMB3 | c.1754T>G (p.Phe585Cys) c.1562T>G (p.Phe521Cys) | |
1 | g.209625870A>G | CA344589516 | LAMB3 | c.1754T>C (p.Phe585Ser) c.1562T>C (p.Phe521Ser) | |
1 | g.209625870A>T | CA344589518 | LAMB3 | c.1754T>A (p.Phe585Tyr) c.1562T>A (p.Phe521Tyr) | |
1 | g.209625871A= | CA2484299265 | LAMB3 | c.1753T= (p.Phe585=) c.1561T= (p.Phe521=) | |
1 | g.209625871A>C | CA344589520 | LAMB3 | c.1753T>G (p.Phe585Val) c.1561T>G (p.Phe521Val) | |
1 | g.209625871A>G | CA1375476 | LAMB3 | c.1753T>C (p.Phe585Leu) c.1561T>C (p.Phe521Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.209625871A>T | CA344589523 | LAMB3 | c.1753T>A (p.Phe585Ile) c.1561T>A (p.Phe521Ile) | |
1 | g.209625872G>A | CA423142692 | LAMB3 | c.1752C>T (p.Cys584=) c.1560C>T (p.Cys520=) | |
1 | g.209625872G>C | CA344589525 | LAMB3 | c.1752C>G (p.Cys584Trp) c.1560C>G (p.Cys520Trp) | |
1 | g.209625872G>T | CA344589527 | LAMB3 | c.1752C>A (p.Cys584Ter) c.1560C>A (p.Cys520Ter) | |
1 | g.209625873C>A | CA344589533 | LAMB3 | c.1751G>T (p.Cys584Phe) c.1559G>T (p.Cys520Phe) | |
1 | g.209625873C>G | CA344589531 | LAMB3 | c.1751G>C (p.Cys584Ser) c.1559G>C (p.Cys520Ser) | |
1 | g.209625873C>T | CA344589529 | LAMB3 | c.1751G>A (p.Cys584Tyr) c.1559G>A (p.Cys520Tyr) | |
1 | g.209625874A>C | CA344589536 | LAMB3 | c.1750T>G (p.Cys584Gly) c.1558T>G (p.Cys520Gly) | |
1 | g.209625874A>G | CA344589538 | LAMB3 | c.1750T>C (p.Cys584Arg) c.1558T>C (p.Cys520Arg) | |
1 | g.209625874A>T | CA344589540 | LAMB3 | c.1750T>A (p.Cys584Ser) c.1558T>A (p.Cys520Ser) | |
1 | g.209625875A>C | CA423142693 | LAMB3 | c.1749T>G (p.Pro583=) c.1557T>G (p.Pro519=) | |
1 | g.209625875A>G | CA423142694 | LAMB3 | c.1749T>C (p.Pro583=) c.1557T>C (p.Pro519=) | |
1 | g.209625875A>T | CA423142695 | LAMB3 | c.1749T>A (p.Pro583=) c.1557T>A (p.Pro519=) | |
1 | g.209625876G>A | CA344589543 | LAMB3 | c.1748C>T (p.Pro583Leu) c.1556C>T (p.Pro519Leu) | dbSNP COSMIC |
1 | g.209625876G>C | CA344589544 | LAMB3 | c.1748C>G (p.Pro583Arg) c.1556C>G (p.Pro519Arg) | |
1 | g.209625876G= | CA2484299266 | LAMB3 | c.1748C= (p.Pro583=) c.1556C= (p.Pro519=) | |
1 | g.209625876G>T | CA344589546 | LAMB3 | c.1748C>A (p.Pro583His) c.1556C>A (p.Pro519His) | ClinVar dbSNP |
1 | g.209625877G>A | CA344589548 | LAMB3 | c.1747C>T (p.Pro583Ser) c.1555C>T (p.Pro519Ser) | |
1 | g.209625877G>C | CA344589549 | LAMB3 | c.1747C>G (p.Pro583Ala) c.1555C>G (p.Pro519Ala) | |
1 | g.209625877G>T | CA344589552 | LAMB3 | c.1747C>A (p.Pro583Thr) c.1555C>A (p.Pro519Thr) | |
1 | g.209625878G>A | CA423142696 | LAMB3 | c.1746C>T (p.His582=) c.1554C>T (p.His518=) | |
1 | g.209625878G>C | CA344589555 | LAMB3 | c.1746C>G (p.His582Gln) c.1554C>G (p.His518Gln) | |
1 | g.209625878G>T | CA344589557 | LAMB3 | c.1746C>A (p.His582Gln) c.1554C>A (p.His518Gln) | |
1 | g.209625879T>A | CA344589559 | LAMB3 | c.1745A>T (p.His582Leu) c.1553A>T (p.His518Leu) | |
1 | g.209625879T>C | CA344589561 | LAMB3 | c.1745A>G (p.His582Arg) c.1553A>G (p.His518Arg) | |
1 | g.209625879T>G | CA344589564 | LAMB3 | c.1745A>C (p.His582Pro) c.1553A>C (p.His518Pro) | |
1 | g.209625880G>A | CA344589569 | LAMB3 | c.1744C>T (p.His582Tyr) c.1552C>T (p.His518Tyr) | |
1 | g.209625880G>C | CA344589571 | LAMB3 | c.1744C>G (p.His582Asp) c.1552C>G (p.His518Asp) | |
1 | g.209625880G>T | CA344589566 | LAMB3 | c.1744C>A (p.His582Asn) c.1552C>A (p.His518Asn) | |
1 | g.209625881G>A | CA423142697 | LAMB3 | c.1743C>T (p.Cys581=) c.1551C>T (p.Cys517=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625881G>C | CA344589572 | LAMB3 | c.1743C>G (p.Cys581Trp) c.1551C>G (p.Cys517Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625881G= | CA2484299267 | LAMB3 | c.1743C= (p.Cys581=) c.1551C= (p.Cys517=) | |
1 | g.209625881G>T | CA344589573 | LAMB3 | c.1743C>A (p.Cys581Ter) c.1551C>A (p.Cys517Ter) | dbSNP gnomAD v2 COSMIC |
1 | g.209625882C>A | CA344589574 | LAMB3 | c.1742G>T (p.Cys581Phe) c.1550G>T (p.Cys517Phe) | |
1 | g.209625882C>G | CA344589575 | LAMB3 | c.1742G>C (p.Cys581Ser) c.1550G>C (p.Cys517Ser) | |
1 | g.209625882C>T | CA344589577 | LAMB3 | c.1742G>A (p.Cys581Tyr) c.1550G>A (p.Cys517Tyr) | gnomAD v4 |
1 | g.209625883A>C | CA344589580 | LAMB3 | c.1741T>G (p.Cys581Gly) c.1549T>G (p.Cys517Gly) | gnomAD v4 |
1 | g.209625883A>G | CA344589582 | LAMB3 | c.1741T>C (p.Cys581Arg) c.1549T>C (p.Cys517Arg) | |
1 | g.209625883A>T | CA344589584 | LAMB3 | c.1741T>A (p.Cys581Ser) c.1549T>A (p.Cys517Ser) | |
1 | g.209625884G>A | CA423142698 | LAMB3 | c.1740C>T (p.Ala580=) c.1548C>T (p.Ala516=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625884G>C | CA423142699 | LAMB3 | c.1740C>G (p.Ala580=) c.1548C>G (p.Ala516=) | |
1 | g.209625884G= | CA2484299268 | LAMB3 | c.1740C= (p.Ala580=) c.1548C= (p.Ala516=) | |
1 | g.209625884G>T | CA423142700 | LAMB3 | c.1740C>A (p.Ala580=) c.1548C>A (p.Ala516=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.209625885G>A | CA344589586 | LAMB3 | c.1739C>T (p.Ala580Val) c.1547C>T (p.Ala516Val) | |
1 | g.209625885G>C | CA344589587 | LAMB3 | c.1739C>G (p.Ala580Gly) c.1547C>G (p.Ala516Gly) | |
1 | g.209625885G>T | CA344589588 | LAMB3 | c.1739C>A (p.Ala580Asp) c.1547C>A (p.Ala516Asp) | |
1 | g.209625886C>A | CA344589595 | LAMB3 | c.1738G>T (p.Ala580Ser) c.1546G>T (p.Ala516Ser) | |
1 | g.209625886C>G | CA344589593 | LAMB3 | c.1738G>C (p.Ala580Pro) c.1546G>C (p.Ala516Pro) | |
1 | g.209625886C>T | CA344589591 | LAMB3 | c.1738G>A (p.Ala580Thr) c.1546G>A (p.Ala516Thr) | gnomAD v4 |
1 | g.209625887C>A | CA423142703 | LAMB3 | c.1737G>T (p.Val579=) c.1545G>T (p.Val515=) | |
1 | g.209625887C>G | CA423142701 | LAMB3 | c.1737G>C (p.Val579=) c.1545G>C (p.Val515=) | |
1 | g.209625887C>T | CA423142702 | LAMB3 | c.1737G>A (p.Val579=) c.1545G>A (p.Val515=) | gnomAD v4 |
1 | g.209625888A>C | CA344589597 | LAMB3 | c.1736T>G (p.Val579Gly) c.1544T>G (p.Val515Gly) | |
1 | g.209625888A>G | CA344589598 | LAMB3 | c.1736T>C (p.Val579Ala) c.1544T>C (p.Val515Ala) | |
1 | g.209625888A>T | CA344589600 | LAMB3 | c.1736T>A (p.Val579Glu) c.1544T>A (p.Val515Glu) | |
1 | g.209625889C>A | CA344589602 | LAMB3 | c.1735G>T (p.Val579Leu) c.1543G>T (p.Val515Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209625889C= | CA2484299269 | LAMB3 | c.1735G= (p.Val579=) c.1543G= (p.Val515=) | |
1 | g.209625889C>G | CA344589604 | LAMB3 | c.1735G>C (p.Val579Leu) c.1543G>C (p.Val515Leu) | |
1 | g.209625889C>T | CA1375477 | LAMB3 | c.1735G>A (p.Val579Met) c.1543G>A (p.Val515Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625889_209625890insACACCCCCAAACACACCCA | CA2747564049 | LAMB3 | c.1734_1735insTGGGTGTGTTTGGGGGTGT (p.Val579TrpfsTer17) c.1542_1543insTGGGTGTGTTTGGGGGTGT (p.Val515TrpfsTer17) | |
1 | g.209625890G>A | CA1375478 | LAMB3 | c.1734C>T (p.Cys578=) c.1542C>T (p.Cys514=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209625890G>C | CA344589607 | LAMB3 | c.1734C>G (p.Cys578Trp) c.1542C>G (p.Cys514Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209625890G= | CA1141634982 | LAMB3 | c.1734C= (p.Cys578=) c.1542C= (p.Cys514=) | |
1 | g.209625890G>T | CA344589609 | LAMB3 | c.1734C>A (p.Cys578Ter) c.1542C>A (p.Cys514Ter) | |
1 | g.209625891C>A | CA344589610 | LAMB3 | c.1733G>T (p.Cys578Phe) c.1541G>T (p.Cys514Phe) | |
1 | g.209625891C>G | CA344589612 | LAMB3 | c.1733G>C (p.Cys578Ser) c.1541G>C (p.Cys514Ser) | |
1 | g.209625891C>T | CA344589614 | LAMB3 | c.1733G>A (p.Cys578Tyr) c.1541G>A (p.Cys514Tyr) | |
1 | g.209625891_209625892insCT | CA2650321827 | LAMB3 | c.1732_1733insAG (p.Cys578Ter) c.1540_1541insAG (p.Cys514Ter) | gnomAD v4 |
1 | g.209625892A>C | CA344589616 | LAMB3 | c.1732T>G (p.Cys578Gly) c.1540T>G (p.Cys514Gly) | |
1 | g.209625892A>G | CA344589620 | LAMB3 | c.1732T>C (p.Cys578Arg) c.1540T>C (p.Cys514Arg) | |
1 | g.209625892A>T | CA344589618 | LAMB3 | c.1732T>A (p.Cys578Ser) c.1540T>A (p.Cys514Ser) | |
1 | g.209625893C>A | CA423142704 | LAMB3 | c.1731G>T (p.Val577=) c.1539G>T (p.Val513=) | |
1 | g.209625893C>G | CA423142705 | LAMB3 | c.1731G>C (p.Val577=) c.1539G>C (p.Val513=) | |
1 | g.209625893C>T | CA423142706 | LAMB3 | c.1731G>A (p.Val577=) c.1539G>A (p.Val513=) | ClinVar |
1 | g.209625894A>C | CA344589621 | LAMB3 | c.1730T>G (p.Val577Gly) c.1538T>G (p.Val513Gly) | |
1 | g.209625894A>G | CA344589626 | LAMB3 | c.1730T>C (p.Val577Ala) c.1538T>C (p.Val513Ala) | |
1 | g.209625894A>T | CA344589624 | LAMB3 | c.1730T>A (p.Val577Glu) c.1538T>A (p.Val513Glu) | |
1 | g.209625895C>A | CA344589627 | LAMB3 | c.1729G>T (p.Val577Leu) c.1537G>T (p.Val513Leu) | gnomAD v4 |
1 | g.209625895C>G | CA344589629 | LAMB3 | c.1729G>C (p.Val577Leu) c.1537G>C (p.Val513Leu) | |
1 | g.209625895C>T | CA344589628 | LAMB3 | c.1729G>A (p.Val577Met) c.1537G>A (p.Val513Met) | gnomAD v4 |
1 | g.209625896C>A | CA423142707 | LAMB3 | c.1728G>T (p.Pro576=) c.1536G>T (p.Pro512=) | COSMIC |
1 | g.209625896C= | CA2484299270 | LAMB3 | c.1728G= (p.Pro576=) c.1536G= (p.Pro512=) | |
1 | g.209625896C>G | CA423142708 | LAMB3 | c.1728G>C (p.Pro576=) c.1536G>C (p.Pro512=) | |
1 | g.209625896C>T | CA1375479 | LAMB3 | c.1728G>A (p.Pro576=) c.1536G>A (p.Pro512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |