Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.46010953G>A | CA510751653 | MMP9 | c.552G>A (p.Lys184=) | |
20 | g.46010953G>C | CA409212898 | MMP9 | c.552G>C (p.Lys184Asn) | |
20 | g.46010953G>T | CA409212899 | MMP9 | c.552G>T (p.Lys184Asn) | |
20 | g.46010954G>A | CA409212900 | MMP9 | c.553G>A (p.Asp185Asn) | |
20 | g.46010954G>C | CA409212901 | MMP9 | c.553G>C (p.Asp185His) | |
20 | g.46010954G>T | CA409212902 | MMP9 | c.553G>T (p.Asp185Tyr) | gnomAD v4 |
20 | g.46010955A= | CA2366478550 | MMP9 | c.554A= (p.Asp185=) | |
20 | g.46010955A>C | CA409212903 | MMP9 | c.554A>C (p.Asp185Ala) | |
20 | g.46010955A>G | CA409212904 | MMP9 | c.554A>G (p.Asp185Gly) | dbSNP |
20 | g.46010955A>T | CA409212905 | MMP9 | c.554A>T (p.Asp185Val) | |
20 | g.46010956C>A | CA9886438 | MMP9 | c.555C>A (p.Asp185Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46010956C= | CA2366478551 | MMP9 | c.555C= (p.Asp185=) | |
20 | g.46010956C>G | CA409212906 | MMP9 | c.555C>G (p.Asp185Glu) | dbSNP |
20 | g.46010956C>T | CA9886439 | MMP9 | c.555C>T (p.Asp185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46010957G>A | CA9886440 | MMP9 | c.556G>A (p.Gly186Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46010957G>C | CA409212907 | MMP9 | c.556G>C (p.Gly186Arg) | gnomAD v4 |
20 | g.46010957G= | CA2366478552 | MMP9 | c.556G= (p.Gly186=) | |
20 | g.46010957G>T | CA409212908 | MMP9 | c.556G>T (p.Gly186Trp) | |
20 | g.46010958G>A | CA409212911 | MMP9 | c.557G>A (p.Gly186Glu) | |
20 | g.46010958G>C | CA409212910 | MMP9 | c.557G>C (p.Gly186Ala) | |
20 | g.46010958G>T | CA409212909 | MMP9 | c.557G>T (p.Gly186Val) | |
20 | g.46010959G>A | CA510751655 | MMP9 | c.558G>A (p.Gly186=) | dbSNP gnomAD v4 |
20 | g.46010959G>C | CA510751656 | MMP9 | c.558G>C (p.Gly186=) | |
20 | g.46010959G= | CA2366478553 | MMP9 | c.558G= (p.Gly186=) | |
20 | g.46010959G>T | CA510751657 | MMP9 | c.558G>T (p.Gly186=) | |
20 | g.46010960C>A | CA409212912 | MMP9 | c.559C>A (p.Leu187Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46010960C= | CA2366478554 | MMP9 | c.559C= (p.Leu187=) | |
20 | g.46010960C>G | CA9886443 | MMP9 | c.559C>G (p.Leu187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46010960C>T | CA9886442 | MMP9 | c.559C>T (p.Leu187Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46010968_46010986dup | CA9886441 | MMP9 | c.567_585dup (p.Pro196ThrfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46010961T>A | CA409212913 | MMP9 | c.560T>A (p.Leu187His) | |
20 | g.46010961T>C | CA409212914 | MMP9 | c.560T>C (p.Leu187Pro) | |
20 | g.46010961T>G | CA409212915 | MMP9 | c.560T>G (p.Leu187Arg) | |
20 | g.46010962C>A | CA510751661 | MMP9 | c.561C>A (p.Leu187=) | |
20 | g.46010962C= | CA2366478555 | MMP9 | c.561C= (p.Leu187=) | |
20 | g.46010962C>G | CA510751663 | MMP9 | c.561C>G (p.Leu187=) | |
20 | g.46010962C>T | CA9886444 | MMP9 | c.561C>T (p.Leu187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46010963C>A | CA409212916 | MMP9 | c.562C>A (p.Leu188Met) | COSMIC |
20 | g.46010963C= | CA2366478556 | MMP9 | c.562C= (p.Leu188=) | |
20 | g.46010963C>G | CA409212917 | MMP9 | c.562C>G (p.Leu188Val) | |
20 | g.46010963C>T | CA510751666 | MMP9 | c.562C>T (p.Leu188=) | dbSNP |
20 | g.46010964T>A | CA409212918 | MMP9 | c.563T>A (p.Leu188Gln) | gnomAD v4 |
20 | g.46010964T>C | CA315634858 | MMP9 | c.563T>C (p.Leu188Pro) | dbSNP gnomAD v4 |
20 | g.46010964T>G | CA409212919 | MMP9 | c.563T>G (p.Leu188Arg) | gnomAD v4 |
20 | g.46010964T= | CA2366478557 | MMP9 | c.563T= (p.Leu188=) | |
20 | g.46010965G>A | CA510751667 | MMP9 | c.564G>A (p.Leu188=) | |
20 | g.46010965G>C | CA510751668 | MMP9 | c.564G>C (p.Leu188=) | |
20 | g.46010965G>T | CA510751669 | MMP9 | c.564G>T (p.Leu188=) | |
20 | g.46010966dup | CA636176590 | MMP9 | c.565dup (p.Ala189GlyfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46010966G>A | CA409212921 | MMP9 | c.565G>A (p.Ala189Thr) |