Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
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 |