Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94404862_94404873del | CA2740097418 | COL1A2 | c.402_413del (p.Ala135_Pro138del) c.396_407del (p.Ala133_Pro136del) | ClinVar |
7 | g.94404867G>A | CA16605302 | COL1A2 | c.407G>A (p.Gly136Asp) c.401G>A (p.Gly134Asp) | ClinVar dbSNP COSMIC |
7 | g.94404867G>C | CA368219695 | COL1A2 | c.407G>C (p.Gly136Ala) c.401G>C (p.Gly134Ala) | |
7 | g.94404867G= | CA1726792263 | COL1A2 | c.407G= (p.Gly136=) c.401G= (p.Gly134=) | |
7 | g.94404867G>T | CA368219696 | COL1A2 | c.407G>T (p.Gly136Val) c.401G>T (p.Gly134Val) | |
7 | g.94404867_94404868insA | CA1104605249 | COL1A2 | c.407_408insA (p.Pro138SerfsTer6) c.401_402insA (p.Pro136SerfsTer6) | gnomAD v3 gnomAD v4 |
7 | g.94404868C>A | CA456487333 | COL1A2 | c.408C>A (p.Gly136=) c.402C>A (p.Gly134=) | dbSNP |
7 | g.94404868C= | CA1726792264 | COL1A2 | c.408C= (p.Gly136=) c.402C= (p.Gly134=) | |
7 | g.94404868C>G | CA456487332 | COL1A2 | c.408C>G (p.Gly136=) c.402C>G (p.Gly134=) | |
7 | g.94404868C>T | CA456487331 | COL1A2 | c.408C>T (p.Gly136=) c.402C>T (p.Gly134=) | gnomAD v4 |
7 | g.94404869C>A | CA368219697 | COL1A2 | c.409C>A (p.Pro137Thr) c.403C>A (p.Pro135Thr) | |
7 | g.94404869C>G | CA368219698 | COL1A2 | c.409C>G (p.Pro137Ala) c.403C>G (p.Pro135Ala) | |
7 | g.94404869C>T | CA368219699 | COL1A2 | c.409C>T (p.Pro137Ser) c.403C>T (p.Pro135Ser) | |
7 | g.94404869_94404870delinsAA | CA645565821 | COL1A2 | c.409_410delinsAA (p.Pro137Asn) c.403_404delinsAA (p.Pro135Asn) | COSMIC |
7 | g.94404870C>A | CA368219702 | COL1A2 | c.410C>A (p.Pro137His) c.404C>A (p.Pro135His) | |
7 | g.94404870C>G | CA368219701 | COL1A2 | c.410C>G (p.Pro137Arg) c.404C>G (p.Pro135Arg) | |
7 | g.94404870C>T | CA368219700 | COL1A2 | c.410C>T (p.Pro137Leu) c.404C>T (p.Pro135Leu) | |
7 | g.94404871T>A | CA456487336 | COL1A2 | c.411T>A (p.Pro137=) c.405T>A (p.Pro135=) | COSMIC |
7 | g.94404871T>C | CA456487337 | COL1A2 | c.411T>C (p.Pro137=) c.405T>C (p.Pro135=) | |
7 | g.94404871T>G | CA456487338 | COL1A2 | c.411T>G (p.Pro137=) c.405T>G (p.Pro135=) | |
7 | g.94404872C>A | CA368219703 | COL1A2 | c.412C>A (p.Pro138Thr) c.406C>A (p.Pro136Thr) | |
7 | g.94404872C>G | CA368219704 | COL1A2 | c.412C>G (p.Pro138Ala) c.406C>G (p.Pro136Ala) | gnomAD v4 |
7 | g.94404872C>T | CA368219705 | COL1A2 | c.412C>T (p.Pro138Ser) c.406C>T (p.Pro136Ser) | ClinVar |
7 | g.94404873C>A | CA368219706 | COL1A2 | c.413C>A (p.Pro138His) c.407C>A (p.Pro136His) | |
7 | g.94404873C>G | CA368219707 | COL1A2 | c.413C>G (p.Pro138Arg) c.407C>G (p.Pro136Arg) | |
7 | g.94404873C>T | CA368219708 | COL1A2 | c.413C>T (p.Pro138Leu) c.407C>T (p.Pro136Leu) | |
7 | g.94404874T>A | CA456487340 | COL1A2 | c.414T>A (p.Pro138=) c.408T>A (p.Pro136=) | |
7 | g.94404874T>C | CA456487341 | COL1A2 | c.414T>C (p.Pro138=) c.408T>C (p.Pro136=) | |
7 | g.94404874T>G | CA456487343 | COL1A2 | c.414T>G (p.Pro138=) c.408T>G (p.Pro136=) | |
7 | g.94404875G>A | CA368219709 | COL1A2 | c.415G>A (p.Gly139Ser) c.409G>A (p.Gly137Ser) | gnomAD v4 |
7 | g.94404875G>C | CA368219710 | COL1A2 | c.415G>C (p.Gly139Arg) c.409G>C (p.Gly137Arg) | |
7 | g.94404875G>T | CA368219711 | COL1A2 | c.415G>T (p.Gly139Cys) c.409G>T (p.Gly137Cys) | |
7 | g.94404876G>A | CA368219712 | COL1A2 | c.416G>A (p.Gly139Asp) c.410G>A (p.Gly137Asp) | |
7 | g.94404876G>C | CA368219713 | COL1A2 | c.416G>C (p.Gly139Ala) c.410G>C (p.Gly137Ala) | |
7 | g.94404876G>T | CA368219714 | COL1A2 | c.416G>T (p.Gly139Val) c.410G>T (p.Gly137Val) | |
7 | g.94404877C>A | CA456487345 | COL1A2 | c.417C>A (p.Gly139=) c.411C>A (p.Gly137=) | |
7 | g.94404877C= | CA1726792265 | COL1A2 | c.417C= (p.Gly139=) c.411C= (p.Gly137=) | |
7 | g.94404877C>G | CA456487346 | COL1A2 | c.417C>G (p.Gly139=) c.411C>G (p.Gly137=) | |
7 | g.94404877C>T | CA456487347 | COL1A2 | c.417C>T (p.Gly139=) c.411C>T (p.Gly137=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.94404878A>C | CA368219715 | COL1A2 | c.418A>C (p.Lys140Gln) c.412A>C (p.Lys138Gln) | |
7 | g.94404878A>G | CA368219717 | COL1A2 | c.418A>G (p.Lys140Glu) c.412A>G (p.Lys138Glu) | |
7 | g.94404878A>T | CA368219716 | COL1A2 | c.418A>T (p.Lys140Ter) c.412A>T (p.Lys138Ter) | |
7 | g.94404879A>C | CA368219718 | COL1A2 | c.419A>C (p.Lys140Thr) c.413A>C (p.Lys138Thr) | |
7 | g.94404879A>G | CA368219719 | COL1A2 | c.419A>G (p.Lys140Arg) c.413A>G (p.Lys138Arg) | |
7 | g.94404879A>T | CA368219720 | COL1A2 | c.419A>T (p.Lys140Met) c.413A>T (p.Lys138Met) | COSMIC |
7 | g.94404880G>A | CA456487352 | COL1A2 | c.420G>A (p.Lys140=) c.414G>A (p.Lys138=) | |
7 | g.94404880G>C | CA368219721 | COL1A2 | c.420G>C (p.Lys140Asn) c.414G>C (p.Lys138Asn) | |
7 | g.94404880G>T | CA368219722 | COL1A2 | c.420G>T (p.Lys140Asn) c.414G>T (p.Lys138Asn) | |
7 | g.94404881G>A | CA4346663 | COL1A2 | c.421G>A (p.Ala141Thr) c.415G>A (p.Ala139Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94404881G>C | CA368219724 | COL1A2 | c.421G>C (p.Ala141Pro) c.415G>C (p.Ala139Pro) |