| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134842259C>A | CA375462038 | COL5A1 | c.5473C>A (p.Gln1825Lys) n.71-22050G>T | |
| 9 | g.134842259C= | CA1883396655 | COL5A1 | c.5473C= (p.Gln1825=) n.71-22050G= | |
| 9 | g.134842259C>G | CA375462039 | COL5A1 | c.5473C>G (p.Gln1825Glu) n.71-22050G>C | |
| 9 | g.134842259C>T | CA16042686 | COL5A1 | c.5473C>T (p.Gln1825Ter) n.71-22050G>A | ClinVar dbSNP |
| 9 | g.134842260A>C | CA375462041 | COL5A1 | c.5474A>C (p.Gln1825Pro) n.71-22051T>G | |
| 9 | g.134842260A>G | CA375462043 | COL5A1 | c.5474A>G (p.Gln1825Arg) n.71-22051T>C | |
| 9 | g.134842260A>T | CA375462044 | COL5A1 | c.5474A>T (p.Gln1825Leu) n.71-22051T>A | |
| 9 | g.134842261G>A | CA467668281 | COL5A1 | c.5475G>A (p.Gln1825=) n.71-22052C>T | |
| 9 | g.134842261G>C | CA375462045 | COL5A1 | c.5475G>C (p.Gln1825His) n.71-22052C>G | |
| 9 | g.134842261G>T | CA375462047 | COL5A1 | c.5475G>T (p.Gln1825His) n.71-22052C>A | |
| 9 | g.134842262A>C | CA375462048 | COL5A1 | c.5476A>C (p.Lys1826Gln) n.71-22053T>G | ClinVar |
| 9 | g.134842262A>G | CA375462050 | COL5A1 | c.5476A>G (p.Lys1826Glu) n.71-22053T>C | |
| 9 | g.134842262A>T | CA375462052 | COL5A1 | c.5476A>T (p.Lys1826Ter) n.71-22053T>A | |
| 9 | g.134842263A>C | CA375462056 | COL5A1 | c.5477A>C (p.Lys1826Thr) n.71-22054T>G | gnomAD v4 |
| 9 | g.134842263A>G | CA375462054 | COL5A1 | c.5477A>G (p.Lys1826Arg) n.71-22054T>C | |
| 9 | g.134842263A>T | CA375462053 | COL5A1 | c.5477A>T (p.Lys1826Ile) n.71-22054T>A | |
| 9 | g.134842264A>C | CA375462058 | COL5A1 | c.5478A>C (p.Lys1826Asn) n.71-22055T>G | |
| 9 | g.134842264A>G | CA467668284 | COL5A1 | c.5478A>G (p.Lys1826=) n.71-22055T>C | |
| 9 | g.134842264A>T | CA375462060 | COL5A1 | c.5478A>T (p.Lys1826Asn) n.71-22055T>A | |
| 9 | g.134842265T>A | CA375462061 | COL5A1 | c.5479T>A (p.Phe1827Ile) n.71-22056A>T | |
| 9 | g.134842265T>C | CA375462063 | COL5A1 | c.5479T>C (p.Phe1827Leu) n.71-22056A>G | |
| 9 | g.134842265T>G | CA375462065 | COL5A1 | c.5479T>G (p.Phe1827Val) n.71-22056A>C | |
| 9 | g.134842266T>A | CA375462066 | COL5A1 | c.5480T>A (p.Phe1827Tyr) n.71-22057A>T | |
| 9 | g.134842266T>C | CA375462067 | COL5A1 | c.5480T>C (p.Phe1827Ser) n.71-22057A>G | |
| 9 | g.134842266T>G | CA375462069 | COL5A1 | c.5480T>G (p.Phe1827Cys) n.71-22057A>C | |
| 9 | g.134842267T>A | CA375462072 | COL5A1 | c.5481T>A (p.Phe1827Leu) n.71-22058A>T | |
| 9 | g.134842267T>C | CA467668286 | COL5A1 | c.5481T>C (p.Phe1827=) n.71-22058A>G | |
| 9 | g.134842267T>G | CA375462071 | COL5A1 | c.5481T>G (p.Phe1827Leu) n.71-22058A>C | gnomAD v4 |
| 9 | g.134842268G>A | CA375462073 | COL5A1 | c.5482G>A (p.Gly1828Arg) n.71-22059C>T | |
| 9 | g.134842268G>C | CA375462074 | COL5A1 | c.5482G>C (p.Gly1828Arg) n.71-22059C>G | |
| 9 | g.134842268G>T | CA375462075 | COL5A1 | c.5482G>T (p.Gly1828Ter) n.71-22059C>A | |
| 9 | g.134842269G>A | CA375462077 | COL5A1 | c.5483G>A (p.Gly1828Glu) n.71-22060C>T | |
| 9 | g.134842269G>C | CA375462078 | COL5A1 | c.5483G>C (p.Gly1828Ala) n.71-22060C>G | |
| 9 | g.134842269G= | CA1883396660 | COL5A1 | c.5483G= (p.Gly1828=) n.71-22060C= | |
| 9 | g.134842269G>T | CA375462080 | COL5A1 | c.5483G>T (p.Gly1828Val) n.71-22060C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134842270A>C | CA467668290 | COL5A1 | c.5484A>C (p.Gly1828=) n.71-22061T>G | |
| 9 | g.134842270A>G | CA467668289 | COL5A1 | c.5484A>G (p.Gly1828=) n.71-22061T>C | |
| 9 | g.134842270A>T | CA467668288 | COL5A1 | c.5484A>T (p.Gly1828=) n.71-22061T>A | |
| 9 | g.134842271T>A | CA375462082 | COL5A1 | c.5485T>A (p.Phe1829Ile) n.71-22062A>T | |
| 9 | g.134842271T>C | CA375462085 | COL5A1 | c.5485T>C (p.Phe1829Leu) n.71-22062A>G | |
| 9 | g.134842271T>G | CA375462083 | COL5A1 | c.5485T>G (p.Phe1829Val) n.71-22062A>C | |
| 9 | g.134842272T>A | CA375462087 | COL5A1 | c.5486T>A (p.Phe1829Tyr) n.71-22063A>T | |
| 9 | g.134842272T>C | CA375462088 | COL5A1 | c.5486T>C (p.Phe1829Ser) n.71-22063A>G | |
| 9 | g.134842272T>G | CA320339 | COL5A1 | c.5486T>G (p.Phe1829Cys) n.71-22063A>C | ClinVar dbSNP |
| 9 | g.134842272T= | CA1883396662 | COL5A1 | c.5486T= (p.Phe1829=) n.71-22063A= | |
| 9 | g.134842273T>A | CA375462091 | COL5A1 | c.5487T>A (p.Phe1829Leu) n.71-22064A>T | |
| 9 | g.134842273T>C | CA467668291 | COL5A1 | c.5487T>C (p.Phe1829=) n.71-22064A>G | gnomAD v4 |
| 9 | g.134842273T>G | CA375462092 | COL5A1 | c.5487T>G (p.Phe1829Leu) n.71-22064A>C | |
| 9 | g.134842274G>A | CA375462095 | COL5A1 | c.5488G>A (p.Glu1830Lys) n.71-22065C>T | |
| 9 | g.134842274G>C | CA375462096 | COL5A1 | c.5488G>C (p.Glu1830Gln) n.71-22065C>G |