| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134842159C>A | CA467668193 | COL5A1 | c.5373C>A (p.Thr1791=) n.71-21950G>T | |
| 9 | g.134842159C= | CA1883396593 | COL5A1 | c.5373C= (p.Thr1791=) n.71-21950G= | |
| 9 | g.134842159C>G | CA467668194 | COL5A1 | c.5373C>G (p.Thr1791=) n.71-21950G>C | |
| 9 | g.134842159C>T | CA467668195 | COL5A1 | c.5373C>T (p.Thr1791=) n.71-21950G>A | dbSNP COSMIC |
| 9 | g.134842159_134842163delinsCAAGA | CA1883396592 | COL5A1 | c.5373_5377delinsCAAGA (p.Thr1791=) n.71-21954_71-21950delinsTCTTG | |
| 9 | g.134842160A>C | CA375461696 | COL5A1 | c.5374A>C (p.Lys1792Gln) n.71-21951T>G | |
| 9 | g.134842160A>G | CA375461699 | COL5A1 | c.5374A>G (p.Lys1792Glu) n.71-21951T>C | |
| 9 | g.134842160A>T | CA375461698 | COL5A1 | c.5374A>T (p.Lys1792Ter) n.71-21951T>A | |
| 9 | g.134842163_134842166del | CA1139661327 | COL5A1 | c.5377_5380del (p.Lys1793AlafsTer?) n.71-21954_71-21951del | ClinVar dbSNP |
| 9 | g.134842161A= | CA1883396594 | COL5A1 | c.5375A= (p.Lys1792=) n.71-21952T= | |
| 9 | g.134842161A>C | CA375461700 | COL5A1 | c.5375A>C (p.Lys1792Thr) n.71-21952T>G | |
| 9 | g.134842161A>G | CA375461704 | COL5A1 | c.5375A>G (p.Lys1792Arg) n.71-21952T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842161A>T | CA375461702 | COL5A1 | c.5375A>T (p.Lys1792Met) n.71-21952T>A | |
| 9 | g.134842162G>A | CA467668196 | COL5A1 | c.5376G>A (p.Lys1792=) n.71-21953C>T | |
| 9 | g.134842162G>C | CA375461705 | COL5A1 | c.5376G>C (p.Lys1792Asn) n.71-21953C>G | |
| 9 | g.134842162G>T | CA375461706 | COL5A1 | c.5376G>T (p.Lys1792Asn) n.71-21953C>A | COSMIC |
| 9 | g.134842163A>C | CA375461709 | COL5A1 | c.5377A>C (p.Lys1793Gln) n.71-21954T>G | |
| 9 | g.134842163A>G | CA375461711 | COL5A1 | c.5377A>G (p.Lys1793Glu) n.71-21954T>C | gnomAD v4 |
| 9 | g.134842163A>T | CA375461712 | COL5A1 | c.5377A>T (p.Lys1793Ter) n.71-21954T>A | |
| 9 | g.134842164A>C | CA375461714 | COL5A1 | c.5378A>C (p.Lys1793Thr) n.71-21955T>G | |
| 9 | g.134842164A>G | CA375461716 | COL5A1 | c.5378A>G (p.Lys1793Arg) n.71-21955T>C | |
| 9 | g.134842164A>T | CA375461717 | COL5A1 | c.5378A>T (p.Lys1793Ile) n.71-21955T>A | |
| 9 | g.134842165A= | CA1883396595 | COL5A1 | c.5379A= (p.Lys1793=) n.71-21956T= | |
| 9 | g.134842165A>C | CA375461719 | COL5A1 | c.5379A>C (p.Lys1793Asn) n.71-21956T>G | |
| 9 | g.134842165A>G | CA467668197 | COL5A1 | c.5379A>G (p.Lys1793=) n.71-21956T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134842165A>T | CA375461720 | COL5A1 | c.5379A>T (p.Lys1793Asn) n.71-21956T>A | |
| 9 | g.134842166G>A | CA375461726 | COL5A1 | c.5380G>A (p.Gly1794Ser) n.71-21957C>T | |
| 9 | g.134842166G>C | CA375461724 | COL5A1 | c.5380G>C (p.Gly1794Arg) n.71-21957C>G | |
| 9 | g.134842166G>T | CA375461722 | COL5A1 | c.5380G>T (p.Gly1794Cys) n.71-21957C>A | |
| 9 | g.134842167G>A | CA375461728 | COL5A1 | c.5381G>A (p.Gly1794Asp) n.71-21958C>T | gnomAD v4 |
| 9 | g.134842167G>C | CA375461730 | COL5A1 | c.5381G>C (p.Gly1794Ala) n.71-21958C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134842167G= | CA1883396596 | COL5A1 | c.5381G= (p.Gly1794=) n.71-21958C= | |
| 9 | g.134842167G>T | CA375461731 | COL5A1 | c.5381G>T (p.Gly1794Val) n.71-21958C>A | |
| 9 | g.134842168C>A | CA467668199 | COL5A1 | c.5382C>A (p.Gly1794=) n.71-21959G>T | |
| 9 | g.134842168C= | CA1883396597 | COL5A1 | c.5382C= (p.Gly1794=) n.71-21959G= | |
| 9 | g.134842168C>G | CA467668201 | COL5A1 | c.5382C>G (p.Gly1794=) n.71-21959G>C | |
| 9 | g.134842168C>T | CA467668200 | COL5A1 | c.5382C>T (p.Gly1794=) n.71-21959G>A | dbSNP |
| 9 | g.134842169T>A | CA375461732 | COL5A1 | c.5383T>A (p.Tyr1795Asn) n.71-21960A>T | |
| 9 | g.134842169T>C | CA5320737 | COL5A1 | c.5383T>C (p.Tyr1795His) n.71-21960A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134842169T>G | CA375461733 | COL5A1 | c.5383T>G (p.Tyr1795Asp) n.71-21960A>C | |
| 9 | g.134842169T= | CA1883396598 | COL5A1 | c.5383T= (p.Tyr1795=) n.71-21960A= | |
| 9 | g.134842170A>C | CA375461734 | COL5A1 | c.5384A>C (p.Tyr1795Ser) n.71-21961T>G | |
| 9 | g.134842170A>G | CA375461735 | COL5A1 | c.5384A>G (p.Tyr1795Cys) n.71-21961T>C | gnomAD v4 |
| 9 | g.134842170A>T | CA375461736 | COL5A1 | c.5384A>T (p.Tyr1795Phe) n.71-21961T>A | |
| 9 | g.134842171C>A | CA375461738 | COL5A1 | c.5385C>A (p.Tyr1795Ter) n.71-21962G>T | |
| 9 | g.134842171C>G | CA375461740 | COL5A1 | c.5385C>G (p.Tyr1795Ter) n.71-21962G>C | |
| 9 | g.134842171C>T | CA467668203 | COL5A1 | c.5385C>T (p.Tyr1795=) n.71-21962G>A | gnomAD v4 |
| 9 | g.134842172C>A | CA375461743 | COL5A1 | c.5386C>A (p.Gln1796Lys) n.71-21963G>T | |
| 9 | g.134842172C= | CA1883396599 | COL5A1 | c.5386C= (p.Gln1796=) n.71-21963G= | |
| 9 | g.134842172C>G | CA375461744 | COL5A1 | c.5386C>G (p.Gln1796Glu) n.71-21963G>C |