| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134835102_134835111del | CA2695211572 | COL5A1 | c.5268_5277del (p.Gly1758ThrfsTer?) c.526_535del n.71-14897_71-14888del | |
| 9 | g.134835107G>A | CA375460666 | COL5A1 | c.5273G>A (p.Gly1758Asp) c.531G>A n.71-14898C>T | |
| 9 | g.134835107G>C | CA375460668 | COL5A1 | c.5273G>C (p.Gly1758Ala) c.531G>C n.71-14898C>G | |
| 9 | g.134835107G>T | CA375460669 | COL5A1 | c.5273G>T (p.Gly1758Val) c.531G>T n.71-14898C>A | |
| 9 | g.134835108C>A | CA467667157 | COL5A1 | c.5274C>A (p.Gly1758=) c.532C>A n.71-14899G>T | gnomAD v4 COSMIC |
| 9 | g.134835108C= | CA1883393008 | COL5A1 | c.5274C= (p.Gly1758=) c.532C= n.71-14899G= | |
| 9 | g.134835108C>G | CA467667158 | COL5A1 | c.5274C>G (p.Gly1758=) c.532C>G n.71-14899G>C | |
| 9 | g.134835108C>T | CA467667160 | COL5A1 | c.5274C>T (p.Gly1758=) c.532C>T n.71-14899G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835109A>C | CA375460672 | COL5A1 | c.5275A>C (p.Ser1759Arg) c.533A>C n.71-14900T>G | |
| 9 | g.134835109A>G | CA375460674 | COL5A1 | c.5275A>G (p.Ser1759Gly) c.533A>G n.71-14900T>C | |
| 9 | g.134835109A>T | CA375460675 | COL5A1 | c.5275A>T (p.Ser1759Cys) c.533A>T n.71-14900T>A | |
| 9 | g.134835110G>A | CA375460679 | COL5A1 | c.5276G>A (p.Ser1759Asn) c.534G>A n.71-14901C>T | |
| 9 | g.134835110G>C | CA375460681 | COL5A1 | c.5276G>C (p.Ser1759Thr) c.534G>C n.71-14901C>G | |
| 9 | g.134835110G>T | CA375460677 | COL5A1 | c.5276G>T (p.Ser1759Ile) c.534G>T n.71-14901C>A | |
| 9 | g.134835111C>A | CA375460682 | COL5A1 | c.5277C>A (p.Ser1759Arg) c.535C>A n.71-14902G>T | |
| 9 | g.134835111C>G | CA375460684 | COL5A1 | c.5277C>G (p.Ser1759Arg) c.535C>G n.71-14902G>C | |
| 9 | g.134835111C>T | CA467667170 | COL5A1 | c.5277C>T (p.Ser1759=) c.535C>T n.71-14902G>A | |
| 9 | g.134835112T>A | CA375460686 | COL5A1 | c.5278T>A (p.Tyr1760Asn) c.536T>A n.71-14903A>T | |
| 9 | g.134835112T>C | CA375460687 | COL5A1 | c.5278T>C (p.Tyr1760His) c.536T>C n.71-14903A>G | |
| 9 | g.134835112T>G | CA375460689 | COL5A1 | c.5278T>G (p.Tyr1760Asp) c.536T>G n.71-14903A>C | |
| 9 | g.134835112_134835115delinsTACG | CA1883393009 | COL5A1 | c.5278_5281delinsTACG (p.Tyr1760=) c.536_539delinsTACG n.71-14906_71-14903delinsCGTA | |
| 9 | g.134835113A= | CA1883393010 | COL5A1 | c.5279A= (p.Tyr1760=) c.537A= n.71-14904T= | |
| 9 | g.134835113A>C | CA375460695 | COL5A1 | c.5279A>C (p.Tyr1760Ser) c.537A>C n.71-14904T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835113A>G | CA375460693 | COL5A1 | c.5279A>G (p.Tyr1760Cys) c.537A>G n.71-14904T>C | |
| 9 | g.134835113A>T | CA375460691 | COL5A1 | c.5279A>T (p.Tyr1760Phe) c.537A>T n.71-14904T>A | |
| 9 | g.134835115_134835117del | CA1129890367 | COL5A1 | c.5281_5283del (p.Asp1761del) c.539_541del n.71-14906_71-14904del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835114C>A | CA375460697 | COL5A1 | c.5280C>A (p.Tyr1760Ter) c.538C>A n.71-14905G>T | |
| 9 | g.134835114C= | CA1883393011 | COL5A1 | c.5280C= (p.Tyr1760=) c.538C= n.71-14905G= | |
| 9 | g.134835114C>G | CA375460699 | COL5A1 | c.5280C>G (p.Tyr1760Ter) c.538C>G n.71-14905G>C | |
| 9 | g.134835114C>T | CA5320680 | COL5A1 | c.5280C>T (p.Tyr1760=) c.538C>T n.71-14905G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835115G>A | CA5320681 | COL5A1 | c.5281G>A (p.Asp1761Asn) c.539G>A n.71-14906C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835115G>C | CA375460702 | COL5A1 | c.5281G>C (p.Asp1761His) c.539G>C n.71-14906C>G | gnomAD v4 |
| 9 | g.134835115G= | CA1883393012 | COL5A1 | c.5281G= (p.Asp1761=) c.539G= n.71-14906C= | |
| 9 | g.134835115G>T | CA375460704 | COL5A1 | c.5281G>T (p.Asp1761Tyr) c.539G>T n.71-14906C>A | COSMIC |
| 9 | g.134835116A>C | CA375460706 | COL5A1 | c.5282A>C (p.Asp1761Ala) c.540A>C n.71-14907T>G | |
| 9 | g.134835116A>G | CA375460708 | COL5A1 | c.5282A>G (p.Asp1761Gly) c.540A>G n.71-14907T>C | |
| 9 | g.134835116A>T | CA375460707 | COL5A1 | c.5282A>T (p.Asp1761Val) c.540A>T n.71-14907T>A | gnomAD v4 |
| 9 | g.134835117C>A | CA375460710 | COL5A1 | c.5283C>A (p.Asp1761Glu) c.541C>A n.71-14908G>T | gnomAD v4 |
| 9 | g.134835117C>G | CA375460711 | COL5A1 | c.5283C>G (p.Asp1761Glu) c.541C>G n.71-14908G>C | |
| 9 | g.134835117C>T | CA467667183 | COL5A1 | c.5283C>T (p.Asp1761=) c.541C>T n.71-14908G>A | |
| 9 | g.134835118A>C | CA375460712 | COL5A1 | c.5284A>C (p.Lys1762Gln) c.542A>C n.71-14909T>G | |
| 9 | g.134835118A>G | CA375460713 | COL5A1 | c.5284A>G (p.Lys1762Glu) c.542A>G n.71-14909T>C | gnomAD v4 |
| 9 | g.134835118A>T | CA375460714 | COL5A1 | c.5284A>T (p.Lys1762Ter) c.542A>T n.71-14909T>A | |
| 9 | g.134835119A= | CA1883393013 | COL5A1 | c.5285A= (p.Lys1762=) c.543A= n.71-14910T= | |
| 9 | g.134835119A>C | CA375460716 | COL5A1 | c.5285A>C (p.Lys1762Thr) c.543A>C n.71-14910T>G | |
| 9 | g.134835119A>G | CA5320682 | COL5A1 | c.5285A>G (p.Lys1762Arg) c.543A>G n.71-14910T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835119A>T | CA375460718 | COL5A1 | c.5285A>T (p.Lys1762Met) c.543A>T n.71-14910T>A | |
| 9 | g.134835120G>A | CA467667193 | COL5A1 | c.5286G>A (p.Lys1762=) c.544G>A n.71-14911C>T | |
| 9 | g.134835120G>C | CA375460720 | COL5A1 | c.5286G>C (p.Lys1762Asn) c.544G>C n.71-14911C>G | |
| 9 | g.134835120G>T | CA375460722 | COL5A1 | c.5286G>T (p.Lys1762Asn) c.544G>T n.71-14911C>A |