Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46011577_46011590dup | CA9886542 | MMP9 | c.827_840dup | ClinVar ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46011577_46011590del | CA9886543 | MMP9 | c.827_840del | ExAC gnomAD v2 gnomAD v4 |
20 | g.46011586A= | CA2366478856 | MMP9 | c.836A= (p.Gln279=) | |
20 | g.46011586A>C | CA409214474 | MMP9 | c.836A>C (p.Gln279Pro) | dbSNP |
20 | g.46011586A>G | CA9886546 | MMP9 | c.836A>G (p.Gln279Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46011586A>T | CA409214480 | MMP9 | c.836A>T (p.Gln279Leu) | dbSNP |
20 | g.46011587G>A | CA510642507 | MMP9 | c.837G>A (p.Gln279=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46011587G>C | CA409214483 | MMP9 | c.837G>C (p.Gln279His) | |
20 | g.46011587G= | CA2366478857 | MMP9 | c.837G= (p.Gln279=) | |
20 | g.46011587G>T | CA409214489 | MMP9 | c.837G>T (p.Gln279His) | |
20 | g.46011588G>A | CA409214491 | MMP9 | c.838G>A (p.Asp280Asn) | gnomAD v4 |
20 | g.46011588G>C | CA409214493 | MMP9 | c.838G>C (p.Asp280His) | |
20 | g.46011588G>T | CA409214496 | MMP9 | c.838G>T (p.Asp280Tyr) | |
20 | g.46011589A= | CA2366478858 | MMP9 | c.839A= (p.Asp280=) | |
20 | g.46011589A>C | CA409214499 | MMP9 | c.839A>C (p.Asp280Ala) | |
20 | g.46011589A>G | CA315635304 | MMP9 | c.839A>G (p.Asp280Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46011589A>T | CA409214504 | MMP9 | c.839A>T (p.Asp280Val) | |
20 | g.46011590C>A | CA409214513 | MMP9 | c.840C>A (p.Asp280Glu) | |
20 | g.46011590C= | CA2366478859 | MMP9 | c.840C= (p.Asp280=) | |
20 | g.46011590C>G | CA409214510 | MMP9 | c.840C>G (p.Asp280Glu) | |
20 | g.46011590C>T | CA9886547 | MMP9 | c.840C>T (p.Asp280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46011591G>A | CA409214538 | MMP9 | c.841G>A (p.Gly281Ser) | gnomAD v4 |
20 | g.46011591G>C | CA409214517 | MMP9 | c.841G>C (p.Gly281Arg) | dbSNP gnomAD v4 |
20 | g.46011591G= | CA2366478860 | MMP9 | c.841G= (p.Gly281=) | |
20 | g.46011591G>T | CA409214534 | MMP9 | c.841G>T (p.Gly281Cys) | dbSNP gnomAD v4 |
20 | g.46011591_46011592insA | CA315635312 | MMP9 | c.841_842insA (p.Gly281GlufsTer4) | dbSNP |
20 | g.46011592G>A | CA409214549 | MMP9 | c.842G>A (p.Gly281Asp) | gnomAD v4 |
20 | g.46011592G>C | CA409214553 | MMP9 | c.842G>C (p.Gly281Ala) | dbSNP gnomAD v4 |
20 | g.46011592G= | CA2366478861 | MMP9 | c.842G= (p.Gly281=) | |
20 | g.46011592G>T | CA409214557 | MMP9 | c.842G>T (p.Gly281Val) | |
20 | g.46011593C>A | CA510642511 | MMP9 | c.843C>A (p.Gly281=) | |
20 | g.46011593C>G | CA510642513 | MMP9 | c.843C>G (p.Gly281=) | gnomAD v4 |
20 | g.46011593C>T | CA510642514 | MMP9 | c.843C>T (p.Gly281=) | |
20 | g.46011594A>C | CA409214565 | MMP9 | c.844A>C (p.Asn282His) | |
20 | g.46011594A>G | CA409214560 | MMP9 | c.844A>G (p.Asn282Asp) | |
20 | g.46011594A>T | CA409214562 | MMP9 | c.844A>T (p.Asn282Tyr) | gnomAD v4 |
20 | g.46011595A= | CA2366478862 | MMP9 | c.845A= (p.Asn282=) | |
20 | g.46011595A>C | CA409214567 | MMP9 | c.845A>C (p.Asn282Thr) | |
20 | g.46011595A>G | CA409214569 | MMP9 | c.845A>G (p.Asn282Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46011595A>T | CA409214572 | MMP9 | c.845A>T (p.Asn282Ile) | |
20 | g.46011596T>A | CA409214576 | MMP9 | c.846T>A (p.Asn282Lys) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46011596T>C | CA510642515 | MMP9 | c.846T>C (p.Asn282=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46011596T>G | CA409214578 | MMP9 | c.846T>G (p.Asn282Lys) | |
20 | g.46011596T= | CA2366478863 | MMP9 | c.846T= (p.Asn282=) | |
20 | g.46011597G>A | CA9886548 | MMP9 | c.847G>A (p.Ala283Thr) | dbSNP ExAC gnomAD v2 |
20 | g.46011597G>C | CA409214589 | MMP9 | c.847G>C (p.Ala283Pro) | |
20 | g.46011597G= | CA2366478864 | MMP9 | c.847G= (p.Ala283=) | |
20 | g.46011597G>T | CA409214587 | MMP9 | c.847G>T (p.Ala283Ser) | |
20 | g.46011598C>A | CA409214591 | MMP9 | c.848C>A (p.Ala283Asp) | dbSNP |
20 | g.46011598C>G | CA409214596 | MMP9 | c.848C>G (p.Ala283Gly) |