Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.134842163_134842166del | CA1139661327 | COL5A1 | c.5377_5380del (p.Lys1793AlafsTer?) n.71-21954_71-21951del | ClinVar dbSNP |
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 | |
9 | g.134842172C>T | CA375461742 | COL5A1 | c.5386C>T (p.Gln1796Ter) n.71-21963G>A | ClinVar dbSNP |
9 | g.134842173A>C | CA375461747 | COL5A1 | c.5387A>C (p.Gln1796Pro) n.71-21964T>G | |
9 | g.134842173A>G | CA375461749 | COL5A1 | c.5387A>G (p.Gln1796Arg) n.71-21964T>C | |
9 | g.134842173A>T | CA375461750 | COL5A1 | c.5387A>T (p.Gln1796Leu) n.71-21964T>A | |
9 | g.134842174G>A | CA467668205 | COL5A1 | c.5388G>A (p.Gln1796=) n.71-21965C>T | gnomAD v4 |
9 | g.134842174G>C | CA5320738 | COL5A1 | c.5388G>C (p.Gln1796His) n.71-21965C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134842174G= | CA1883396600 | COL5A1 | c.5388G= (p.Gln1796=) n.71-21965C= | |
9 | g.134842174G>T | CA375461752 | COL5A1 | c.5388G>T (p.Gln1796His) n.71-21965C>A | gnomAD v4 |
9 | g.134842175A= | CA1883396601 | COL5A1 | c.5389A= (p.Lys1797=) n.71-21966T= | |
9 | g.134842175A>C | CA5320739 | COL5A1 | c.5389A>C (p.Lys1797Gln) n.71-21966T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.134842175A>G | CA375461755 | COL5A1 | c.5389A>G (p.Lys1797Glu) n.71-21966T>C | |
9 | g.134842175A>T | CA375461756 | COL5A1 | c.5389A>T (p.Lys1797Ter) n.71-21966T>A | |
9 | g.134842176A= | CA1883396602 | COL5A1 | c.5390A= (p.Lys1797=) n.71-21967T= | |
9 | g.134842176A>C | CA375461758 | COL5A1 | c.5390A>C (p.Lys1797Thr) n.71-21967T>G | |
9 | g.134842176A>G | CA5320740 | COL5A1 | c.5390A>G (p.Lys1797Arg) n.71-21967T>C | ClinVar dbSNP ExAC gnomAD v4 |
9 | g.134842176A>T | CA375461760 | COL5A1 | c.5390A>T (p.Lys1797Met) n.71-21967T>A | |
9 | g.134842177G>A | CA467668206 | COL5A1 | c.5391G>A (p.Lys1797=) n.71-21968C>T | |
9 | g.134842177G>C | CA375461762 | COL5A1 | c.5391G>C (p.Lys1797Asn) n.71-21968C>G | ClinVar dbSNP |
9 | g.134842177G>T | CA375461763 | COL5A1 | c.5391G>T (p.Lys1797Asn) n.71-21968C>A | |
9 | g.134842178A>C | CA375461767 | COL5A1 | c.5392A>C (p.Thr1798Pro) n.71-21969T>G | |
9 | g.134842178A>G | CA375461766 | COL5A1 | c.5392A>G (p.Thr1798Ala) n.71-21969T>C |