Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94408806G>A | CA368220497 | COL1A2 | c.775G>A (p.Gly259Ser) c.769G>A (p.Gly257Ser) | |
7 | g.94408806G>C | CA368220498 | COL1A2 | c.775G>C (p.Gly259Arg) c.769G>C (p.Gly257Arg) | |
7 | g.94408806G= | CA1726749512 | COL1A2 | c.775G= (p.Gly259=) c.769G= (p.Gly257=) | |
7 | g.94408806G>T | CA257765 | COL1A2 | c.775G>T (p.Gly259Cys) c.769G>T (p.Gly257Cys) | ClinVar dbSNP |
7 | g.94408807G>A | CA368220499 | COL1A2 | c.776G>A (p.Gly259Asp) c.770G>A (p.Gly257Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.94408807G>C | CA368220500 | COL1A2 | c.776G>C (p.Gly259Ala) c.770G>C (p.Gly257Ala) | ClinVar dbSNP |
7 | g.94408807G= | CA1726749519 | COL1A2 | c.776G= (p.Gly259=) c.770G= (p.Gly257=) | |
7 | g.94408807G>T | CA368220501 | COL1A2 | c.776G>T (p.Gly259Val) c.770G>T (p.Gly257Val) | ClinVar dbSNP |
7 | g.94408808T>A | CA456488224 | COL1A2 | c.777T>A (p.Gly259=) c.771T>A (p.Gly257=) | |
7 | g.94408808T>C | CA456488225 | COL1A2 | c.777T>C (p.Gly259=) c.771T>C (p.Gly257=) | |
7 | g.94408808T>G | CA456488226 | COL1A2 | c.777T>G (p.Gly259=) c.771T>G (p.Gly257=) | |
7 | g.94408809G>A | CA368220502 | COL1A2 | c.778G>A (p.Ala260Thr) c.772G>A (p.Ala258Thr) | ClinVar gnomAD v4 COSMIC |
7 | g.94408809G>C | CA368220503 | COL1A2 | c.778G>C (p.Ala260Pro) c.772G>C (p.Ala258Pro) | |
7 | g.94408809G>T | CA368220504 | COL1A2 | c.778G>T (p.Ala260Ser) c.772G>T (p.Ala258Ser) | |
7 | g.94408810C>A | CA368220505 | COL1A2 | c.779C>A (p.Ala260Asp) c.773C>A (p.Ala258Asp) | dbSNP gnomAD v4 |
7 | g.94408810C= | CA1726749530 | COL1A2 | c.779C= (p.Ala260=) c.773C= (p.Ala258=) | |
7 | g.94408810C>G | CA368220506 | COL1A2 | c.779C>G (p.Ala260Gly) c.773C>G (p.Ala258Gly) | |
7 | g.94408810C>T | CA368220507 | COL1A2 | c.779C>T (p.Ala260Val) c.773C>T (p.Ala258Val) | ClinVar dbSNP |
7 | g.94408811C>A | CA456488228 | COL1A2 | c.780C>A (p.Ala260=) c.774C>A (p.Ala258=) | |
7 | g.94408811C>G | CA456488227 | COL1A2 | c.780C>G (p.Ala260=) c.774C>G (p.Ala258=) | |
7 | g.94408811C>T | CA456488229 | COL1A2 | c.780C>T (p.Ala260=) c.774C>T (p.Ala258=) | gnomAD v4 |
7 | g.94408812C>A | CA4346814 | COL1A2 | c.781C>A (p.Pro261Thr) c.775C>A (p.Pro259Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94408812C= | CA1726749549 | COL1A2 | c.781C= (p.Pro261=) c.775C= (p.Pro259=) | |
7 | g.94408812C>G | CA368220508 | COL1A2 | c.781C>G (p.Pro261Ala) c.775C>G (p.Pro259Ala) | ClinVar dbSNP |
7 | g.94408812C>T | CA4346815 | COL1A2 | c.781C>T (p.Pro261Ser) c.775C>T (p.Pro259Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.94408813C>A | CA368220509 | COL1A2 | c.782C>A (p.Pro261His) c.776C>A (p.Pro259His) | |
7 | g.94408813C>G | CA368220511 | COL1A2 | c.782C>G (p.Pro261Arg) c.776C>G (p.Pro259Arg) | |
7 | g.94408813C>T | CA368220510 | COL1A2 | c.782C>T (p.Pro261Leu) c.776C>T (p.Pro259Leu) | gnomAD v4 |
7 | g.94408814del | CA2683768040 | COL1A2 | c.783del (p.Gly262AlafsTer?) c.777del (p.Gly260AlafsTer?) | gnomAD v4 |
7 | g.94408814T>A | CA456488230 | COL1A2 | c.783T>A (p.Pro261=) c.777T>A (p.Pro259=) | |
7 | g.94408814T>C | CA4346816 | COL1A2 | c.783T>C (p.Pro261=) c.777T>C (p.Pro259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94408814T>G | CA456488231 | COL1A2 | c.783T>G (p.Pro261=) c.777T>G (p.Pro259=) | |
7 | g.94408814T= | CA1726749562 | COL1A2 | c.783T= (p.Pro261=) c.777T= (p.Pro259=) | |
7 | g.94408815G>A | CA368220512 | COL1A2 | c.784G>A (p.Gly262Ser) c.778G>A (p.Gly260Ser) | |
7 | g.94408815G>C | CA368220513 | COL1A2 | c.784G>C (p.Gly262Arg) c.778G>C (p.Gly260Arg) | ClinVar dbSNP |
7 | g.94408815G= | CA1726749570 | COL1A2 | c.784G= (p.Gly262=) c.778G= (p.Gly260=) | |
7 | g.94408815G>T | CA368220514 | COL1A2 | c.784G>T (p.Gly262Cys) c.778G>T (p.Gly260Cys) | |
7 | g.94408816G>A | CA368220515 | COL1A2 | c.785G>A (p.Gly262Asp) c.779G>A (p.Gly260Asp) | ClinVar dbSNP |
7 | g.94408816G>C | CA368220516 | COL1A2 | c.785G>C (p.Gly262Ala) c.779G>C (p.Gly260Ala) | |
7 | g.94408816G= | CA1726749587 | COL1A2 | c.785G= (p.Gly262=) c.779G= (p.Gly260=) | |
7 | g.94408816G>T | CA368220517 | COL1A2 | c.785G>T (p.Gly262Val) c.779G>T (p.Gly260Val) | |
7 | g.94408817C>A | CA456488232 | COL1A2 | c.786C>A (p.Gly262=) c.780C>A (p.Gly260=) | gnomAD v4 |
7 | g.94408817C= | CA1726749595 | COL1A2 | c.786C= (p.Gly262=) c.780C= (p.Gly260=) | |
7 | g.94408817C>G | CA456488233 | COL1A2 | c.786C>G (p.Gly262=) c.780C>G (p.Gly260=) | |
7 | g.94408817C>T | CA162919025 | COL1A2 | c.786C>T (p.Gly262=) c.780C>T (p.Gly260=) | dbSNP gnomAD v4 |
7 | g.94408818C>A | CA368220518 | COL1A2 | c.787C>A (p.Pro263Thr) c.781C>A (p.Pro261Thr) | |
7 | g.94408818C= | CA1726749599 | COL1A2 | c.787C= (p.Pro263=) c.781C= (p.Pro261=) | |
7 | g.94408818C>G | CA368220519 | COL1A2 | c.787C>G (p.Pro263Ala) c.781C>G (p.Pro261Ala) | dbSNP |
7 | g.94408818C>T | CA368220520 | COL1A2 | c.787C>T (p.Pro263Ser) c.781C>T (p.Pro261Ser) | |
7 | g.94408819C>A | CA368220522 | COL1A2 | c.788C>A (p.Pro263His) c.782C>A (p.Pro261His) |