Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33164762_33164834del | CA2770563324 | COL11A2 | n.669+22_669+94del c.4863+22_4863+94del (n.4863+22_4863+94del) c.4542+22_4542+94del (n.4542+22_4542+94del) c.4605+22_4605+94del (n.4605+22_4605+94del) n.653+22_653+94del c.4017+22_4017+94del (n.4017+22_4017+94del) c.4149+22_4149+94del (n.4149+22_4149+94del) c.3969+22_3969+94del (n.3969+22_3969+94del) c.3906+22_3906+94del (n.3906+22_3906+94del) c.3750+22_3750+94del (n.3750+22_3750+94del) c.3681+22_3681+94del (n.3681+22_3681+94del) | |
6 | g.33164810C>A | CA2678226857 | COL11A2 | n.669+42G>T c.4863+42G>T (n.4863+42G>T) c.4542+42G>T (n.4542+42G>T) c.4605+42G>T (n.4605+42G>T) n.653+42G>T c.4017+42G>T (n.4017+42G>T) c.4149+42G>T (n.4149+42G>T) c.3969+42G>T (n.3969+42G>T) c.3906+42G>T (n.3906+42G>T) c.3750+42G>T (n.3750+42G>T) c.3681+42G>T (n.3681+42G>T) | gnomAD v4 |
6 | g.33164810C= | CA1619890311 | COL11A2 | n.669+42G= c.4863+42G= (n.4863+42G=) c.4542+42G= (n.4542+42G=) c.4605+42G= (n.4605+42G=) n.653+42G= c.4017+42G= (n.4017+42G=) c.4149+42G= (n.4149+42G=) c.3969+42G= (n.3969+42G=) c.3906+42G= (n.3906+42G=) c.3750+42G= (n.3750+42G=) c.3681+42G= (n.3681+42G=) | |
6 | g.33164810C>T | CA824029727 | COL11A2 | n.669+42G>A c.4863+42G>A (n.4863+42G>A) c.4542+42G>A (n.4542+42G>A) c.4605+42G>A (n.4605+42G>A) n.653+42G>A c.4017+42G>A (n.4017+42G>A) c.4149+42G>A (n.4149+42G>A) c.3969+42G>A (n.3969+42G>A) c.3906+42G>A (n.3906+42G>A) c.3750+42G>A (n.3750+42G>A) c.3681+42G>A (n.3681+42G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164811A>T | CA2678226859 | COL11A2 | n.669+41T>A c.4863+41T>A (n.4863+41T>A) c.4542+41T>A (n.4542+41T>A) c.4605+41T>A (n.4605+41T>A) n.653+41T>A c.4017+41T>A (n.4017+41T>A) c.4149+41T>A (n.4149+41T>A) c.3969+41T>A (n.3969+41T>A) c.3906+41T>A (n.3906+41T>A) c.3750+41T>A (n.3750+41T>A) c.3681+41T>A (n.3681+41T>A) | gnomAD v4 |
6 | g.33164812C>A | CA915283942 | COL11A2 | n.669+40G>T c.4863+40G>T (n.4863+40G>T) c.4542+40G>T (n.4542+40G>T) c.4605+40G>T (n.4605+40G>T) n.653+40G>T c.4017+40G>T (n.4017+40G>T) c.4149+40G>T (n.4149+40G>T) c.3969+40G>T (n.3969+40G>T) c.3906+40G>T (n.3906+40G>T) c.3750+40G>T (n.3750+40G>T) c.3681+40G>T (n.3681+40G>T) | gnomAD v2 gnomAD v4 |
6 | g.33164812C= | CA1619890314 | COL11A2 | n.669+40G= c.4863+40G= (n.4863+40G=) c.4542+40G= (n.4542+40G=) c.4605+40G= (n.4605+40G=) n.653+40G= c.4017+40G= (n.4017+40G=) c.4149+40G= (n.4149+40G=) c.3969+40G= (n.3969+40G=) c.3906+40G= (n.3906+40G=) c.3750+40G= (n.3750+40G=) c.3681+40G= (n.3681+40G=) | |
6 | g.33164812C>G | CA2678226861 | COL11A2 | n.669+40G>C c.4863+40G>C (n.4863+40G>C) c.4542+40G>C (n.4542+40G>C) c.4605+40G>C (n.4605+40G>C) n.653+40G>C c.4017+40G>C (n.4017+40G>C) c.4149+40G>C (n.4149+40G>C) c.3969+40G>C (n.3969+40G>C) c.3906+40G>C (n.3906+40G>C) c.3750+40G>C (n.3750+40G>C) c.3681+40G>C (n.3681+40G>C) | gnomAD v4 |
6 | g.33164812C>T | CA3749981 | COL11A2 | n.669+40G>A c.4863+40G>A (n.4863+40G>A) c.4542+40G>A (n.4542+40G>A) c.4605+40G>A (n.4605+40G>A) n.653+40G>A c.4017+40G>A (n.4017+40G>A) c.4149+40G>A (n.4149+40G>A) c.3969+40G>A (n.3969+40G>A) c.3906+40G>A (n.3906+40G>A) c.3750+40G>A (n.3750+40G>A) c.3681+40G>A (n.3681+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164813T>C | CA137061689 | COL11A2 | n.669+39A>G c.4863+39A>G (n.4863+39A>G) c.4542+39A>G (n.4542+39A>G) c.4605+39A>G (n.4605+39A>G) n.653+39A>G c.4017+39A>G (n.4017+39A>G) c.4149+39A>G (n.4149+39A>G) c.3969+39A>G (n.3969+39A>G) c.3906+39A>G (n.3906+39A>G) c.3750+39A>G (n.3750+39A>G) c.3681+39A>G (n.3681+39A>G) | dbSNP |
6 | g.33164813T= | CA1619890318 | COL11A2 | n.669+39A= c.4863+39A= (n.4863+39A=) c.4542+39A= (n.4542+39A=) c.4605+39A= (n.4605+39A=) n.653+39A= c.4017+39A= (n.4017+39A=) c.4149+39A= (n.4149+39A=) c.3969+39A= (n.3969+39A=) c.3906+39A= (n.3906+39A=) c.3750+39A= (n.3750+39A=) c.3681+39A= (n.3681+39A=) | |
6 | g.33164814A= | CA1619890321 | COL11A2 | n.669+38T= c.4863+38T= (n.4863+38T=) c.4542+38T= (n.4542+38T=) c.4605+38T= (n.4605+38T=) n.653+38T= c.4017+38T= (n.4017+38T=) c.4149+38T= (n.4149+38T=) c.3969+38T= (n.3969+38T=) c.3906+38T= (n.3906+38T=) c.3750+38T= (n.3750+38T=) c.3681+38T= (n.3681+38T=) | |
6 | g.33164814A>C | CA1087647672 | COL11A2 | n.669+38T>G c.4863+38T>G (n.4863+38T>G) c.4542+38T>G (n.4542+38T>G) c.4605+38T>G (n.4605+38T>G) n.653+38T>G c.4017+38T>G (n.4017+38T>G) c.4149+38T>G (n.4149+38T>G) c.3969+38T>G (n.3969+38T>G) c.3906+38T>G (n.3906+38T>G) c.3750+38T>G (n.3750+38T>G) c.3681+38T>G (n.3681+38T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164814A>G | CA3749982 | COL11A2 | n.669+38T>C c.4863+38T>C (n.4863+38T>C) c.4542+38T>C (n.4542+38T>C) c.4605+38T>C (n.4605+38T>C) n.653+38T>C c.4017+38T>C (n.4017+38T>C) c.4149+38T>C (n.4149+38T>C) c.3969+38T>C (n.3969+38T>C) c.3906+38T>C (n.3906+38T>C) c.3750+38T>C (n.3750+38T>C) c.3681+38T>C (n.3681+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164814A>T | CA1087647675 | COL11A2 | n.669+38T>A c.4863+38T>A (n.4863+38T>A) c.4542+38T>A (n.4542+38T>A) c.4605+38T>A (n.4605+38T>A) n.653+38T>A c.4017+38T>A (n.4017+38T>A) c.4149+38T>A (n.4149+38T>A) c.3969+38T>A (n.3969+38T>A) c.3906+38T>A (n.3906+38T>A) c.3750+38T>A (n.3750+38T>A) c.3681+38T>A (n.3681+38T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164815T>A | CA2678226866 | COL11A2 | n.669+37A>T c.4863+37A>T (n.4863+37A>T) c.4542+37A>T (n.4542+37A>T) c.4605+37A>T (n.4605+37A>T) n.653+37A>T c.4017+37A>T (n.4017+37A>T) c.4149+37A>T (n.4149+37A>T) c.3969+37A>T (n.3969+37A>T) c.3906+37A>T (n.3906+37A>T) c.3750+37A>T (n.3750+37A>T) c.3681+37A>T (n.3681+37A>T) | gnomAD v4 |
6 | g.33164815T>C | CA824029735 | COL11A2 | n.669+37A>G c.4863+37A>G (n.4863+37A>G) c.4542+37A>G (n.4542+37A>G) c.4605+37A>G (n.4605+37A>G) n.653+37A>G c.4017+37A>G (n.4017+37A>G) c.4149+37A>G (n.4149+37A>G) c.3969+37A>G (n.3969+37A>G) c.3906+37A>G (n.3906+37A>G) c.3750+37A>G (n.3750+37A>G) c.3681+37A>G (n.3681+37A>G) | dbSNP gnomAD v4 |
6 | g.33164815T>G | CA824029734 | COL11A2 | n.669+37A>C c.4863+37A>C (n.4863+37A>C) c.4542+37A>C (n.4542+37A>C) c.4605+37A>C (n.4605+37A>C) n.653+37A>C c.4017+37A>C (n.4017+37A>C) c.4149+37A>C (n.4149+37A>C) c.3969+37A>C (n.3969+37A>C) c.3906+37A>C (n.3906+37A>C) c.3750+37A>C (n.3750+37A>C) c.3681+37A>C (n.3681+37A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164815T= | CA1619890326 | COL11A2 | n.669+37A= c.4863+37A= (n.4863+37A=) c.4542+37A= (n.4542+37A=) c.4605+37A= (n.4605+37A=) n.653+37A= c.4017+37A= (n.4017+37A=) c.4149+37A= (n.4149+37A=) c.3969+37A= (n.3969+37A=) c.3906+37A= (n.3906+37A=) c.3750+37A= (n.3750+37A=) c.3681+37A= (n.3681+37A=) | |
6 | g.33164816G>A | CA566424971 | COL11A2 | n.669+36C>T c.4863+36C>T (n.4863+36C>T) c.4542+36C>T (n.4542+36C>T) c.4605+36C>T (n.4605+36C>T) n.653+36C>T c.4017+36C>T (n.4017+36C>T) c.4149+36C>T (n.4149+36C>T) c.3969+36C>T (n.3969+36C>T) c.3906+36C>T (n.3906+36C>T) c.3750+36C>T (n.3750+36C>T) c.3681+36C>T (n.3681+36C>T) | dbSNP gnomAD v2 |
6 | g.33164816G= | CA1619890333 | COL11A2 | n.669+36C= c.4863+36C= (n.4863+36C=) c.4542+36C= (n.4542+36C=) c.4605+36C= (n.4605+36C=) n.653+36C= c.4017+36C= (n.4017+36C=) c.4149+36C= (n.4149+36C=) c.3969+36C= (n.3969+36C=) c.3906+36C= (n.3906+36C=) c.3750+36C= (n.3750+36C=) c.3681+36C= (n.3681+36C=) | |
6 | g.33164819del | CA2678226867 | COL11A2 | n.669+36del c.4863+36del (n.4863+36del) c.4542+36del (n.4542+36del) c.4605+36del (n.4605+36del) n.653+36del c.4017+36del (n.4017+36del) c.4149+36del (n.4149+36del) c.3969+36del (n.3969+36del) c.3906+36del (n.3906+36del) c.3750+36del (n.3750+36del) c.3681+36del (n.3681+36del) | gnomAD v4 |
6 | g.33164817G>A | CA2678226869 | COL11A2 | n.669+35C>T c.4863+35C>T (n.4863+35C>T) c.4542+35C>T (n.4542+35C>T) c.4605+35C>T (n.4605+35C>T) n.653+35C>T c.4017+35C>T (n.4017+35C>T) c.4149+35C>T (n.4149+35C>T) c.3969+35C>T (n.3969+35C>T) c.3906+35C>T (n.3906+35C>T) c.3750+35C>T (n.3750+35C>T) c.3681+35C>T (n.3681+35C>T) | gnomAD v4 |
6 | g.33164817G>C | CA2678226870 | COL11A2 | n.669+35C>G c.4863+35C>G (n.4863+35C>G) c.4542+35C>G (n.4542+35C>G) c.4605+35C>G (n.4605+35C>G) n.653+35C>G c.4017+35C>G (n.4017+35C>G) c.4149+35C>G (n.4149+35C>G) c.3969+35C>G (n.3969+35C>G) c.3906+35C>G (n.3906+35C>G) c.3750+35C>G (n.3750+35C>G) c.3681+35C>G (n.3681+35C>G) | gnomAD v4 |
6 | g.33164817G>T | CA2678226868 | COL11A2 | n.669+35C>A c.4863+35C>A (n.4863+35C>A) c.4542+35C>A (n.4542+35C>A) c.4605+35C>A (n.4605+35C>A) n.653+35C>A c.4017+35C>A (n.4017+35C>A) c.4149+35C>A (n.4149+35C>A) c.3969+35C>A (n.3969+35C>A) c.3906+35C>A (n.3906+35C>A) c.3750+35C>A (n.3750+35C>A) c.3681+35C>A (n.3681+35C>A) | gnomAD v4 |
6 | g.33164818G>A | CA2578581107 | COL11A2 | n.669+34C>T c.4863+34C>T (n.4863+34C>T) c.4542+34C>T (n.4542+34C>T) c.4605+34C>T (n.4605+34C>T) n.653+34C>T c.4017+34C>T (n.4017+34C>T) c.4149+34C>T (n.4149+34C>T) c.3969+34C>T (n.3969+34C>T) c.3906+34C>T (n.3906+34C>T) c.3750+34C>T (n.3750+34C>T) c.3681+34C>T (n.3681+34C>T) | |
6 | g.33164818G>T | CA2678226871 | COL11A2 | n.669+34C>A c.4863+34C>A (n.4863+34C>A) c.4542+34C>A (n.4542+34C>A) c.4605+34C>A (n.4605+34C>A) n.653+34C>A c.4017+34C>A (n.4017+34C>A) c.4149+34C>A (n.4149+34C>A) c.3969+34C>A (n.3969+34C>A) c.3906+34C>A (n.3906+34C>A) c.3750+34C>A (n.3750+34C>A) c.3681+34C>A (n.3681+34C>A) | gnomAD v4 |
6 | g.33164819G>A | CA2678226872 | COL11A2 | n.669+33C>T c.4863+33C>T (n.4863+33C>T) c.4542+33C>T (n.4542+33C>T) c.4605+33C>T (n.4605+33C>T) n.653+33C>T c.4017+33C>T (n.4017+33C>T) c.4149+33C>T (n.4149+33C>T) c.3969+33C>T (n.3969+33C>T) c.3906+33C>T (n.3906+33C>T) c.3750+33C>T (n.3750+33C>T) c.3681+33C>T (n.3681+33C>T) | gnomAD v4 |
6 | g.33164819G>T | CA2578581108 | COL11A2 | n.669+33C>A c.4863+33C>A (n.4863+33C>A) c.4542+33C>A (n.4542+33C>A) c.4605+33C>A (n.4605+33C>A) n.653+33C>A c.4017+33C>A (n.4017+33C>A) c.4149+33C>A (n.4149+33C>A) c.3969+33C>A (n.3969+33C>A) c.3906+33C>A (n.3906+33C>A) c.3750+33C>A (n.3750+33C>A) c.3681+33C>A (n.3681+33C>A) | |
6 | g.33164820C>A | CA1087647681 | COL11A2 | n.669+32G>T c.4863+32G>T (n.4863+32G>T) c.4542+32G>T (n.4542+32G>T) c.4605+32G>T (n.4605+32G>T) n.653+32G>T c.4017+32G>T (n.4017+32G>T) c.4149+32G>T (n.4149+32G>T) c.3969+32G>T (n.3969+32G>T) c.3906+32G>T (n.3906+32G>T) c.3750+32G>T (n.3750+32G>T) c.3681+32G>T (n.3681+32G>T) | gnomAD v3 gnomAD v4 |
6 | g.33164820C= | CA1619890337 | COL11A2 | n.669+32G= c.4863+32G= (n.4863+32G=) c.4542+32G= (n.4542+32G=) c.4605+32G= (n.4605+32G=) n.653+32G= c.4017+32G= (n.4017+32G=) c.4149+32G= (n.4149+32G=) c.3969+32G= (n.3969+32G=) c.3906+32G= (n.3906+32G=) c.3750+32G= (n.3750+32G=) c.3681+32G= (n.3681+32G=) | |
6 | g.33164820C>G | CA1087647679 | COL11A2 | n.669+32G>C c.4863+32G>C (n.4863+32G>C) c.4542+32G>C (n.4542+32G>C) c.4605+32G>C (n.4605+32G>C) n.653+32G>C c.4017+32G>C (n.4017+32G>C) c.4149+32G>C (n.4149+32G>C) c.3969+32G>C (n.3969+32G>C) c.3906+32G>C (n.3906+32G>C) c.3750+32G>C (n.3750+32G>C) c.3681+32G>C (n.3681+32G>C) | gnomAD v3 gnomAD v4 |
6 | g.33164820C>T | CA566424972 | COL11A2 | n.669+32G>A c.4863+32G>A (n.4863+32G>A) c.4542+32G>A (n.4542+32G>A) c.4605+32G>A (n.4605+32G>A) n.653+32G>A c.4017+32G>A (n.4017+32G>A) c.4149+32G>A (n.4149+32G>A) c.3969+32G>A (n.3969+32G>A) c.3906+32G>A (n.3906+32G>A) c.3750+32G>A (n.3750+32G>A) c.3681+32G>A (n.3681+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164821A= | CA1619890341 | COL11A2 | n.669+31T= c.4863+31T= (n.4863+31T=) c.4542+31T= (n.4542+31T=) c.4605+31T= (n.4605+31T=) n.653+31T= c.4017+31T= (n.4017+31T=) c.4149+31T= (n.4149+31T=) c.3969+31T= (n.3969+31T=) c.3906+31T= (n.3906+31T=) c.3750+31T= (n.3750+31T=) c.3681+31T= (n.3681+31T=) | |
6 | g.33164821A>C | CA2770563327 | COL11A2 | n.669+31T>G c.4863+31T>G (n.4863+31T>G) c.4542+31T>G (n.4542+31T>G) c.4605+31T>G (n.4605+31T>G) n.653+31T>G c.4017+31T>G (n.4017+31T>G) c.4149+31T>G (n.4149+31T>G) c.3969+31T>G (n.3969+31T>G) c.3906+31T>G (n.3906+31T>G) c.3750+31T>G (n.3750+31T>G) c.3681+31T>G (n.3681+31T>G) | |
6 | g.33164821A>G | CA1087647701 | COL11A2 | n.669+31T>C c.4863+31T>C (n.4863+31T>C) c.4542+31T>C (n.4542+31T>C) c.4605+31T>C (n.4605+31T>C) n.653+31T>C c.4017+31T>C (n.4017+31T>C) c.4149+31T>C (n.4149+31T>C) c.3969+31T>C (n.3969+31T>C) c.3906+31T>C (n.3906+31T>C) c.3750+31T>C (n.3750+31T>C) c.3681+31T>C (n.3681+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164821A>T | CA1087647702 | COL11A2 | n.669+31T>A c.4863+31T>A (n.4863+31T>A) c.4542+31T>A (n.4542+31T>A) c.4605+31T>A (n.4605+31T>A) n.653+31T>A c.4017+31T>A (n.4017+31T>A) c.4149+31T>A (n.4149+31T>A) c.3969+31T>A (n.3969+31T>A) c.3906+31T>A (n.3906+31T>A) c.3750+31T>A (n.3750+31T>A) c.3681+31T>A (n.3681+31T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164822G>A | CA915283943 | COL11A2 | n.669+30C>T c.4863+30C>T (n.4863+30C>T) c.4542+30C>T (n.4542+30C>T) c.4605+30C>T (n.4605+30C>T) n.653+30C>T c.4017+30C>T (n.4017+30C>T) c.4149+30C>T (n.4149+30C>T) c.3969+30C>T (n.3969+30C>T) c.3906+30C>T (n.3906+30C>T) c.3750+30C>T (n.3750+30C>T) c.3681+30C>T (n.3681+30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164822G= | CA1619890345 | COL11A2 | n.669+30C= c.4863+30C= (n.4863+30C=) c.4542+30C= (n.4542+30C=) c.4605+30C= (n.4605+30C=) n.653+30C= c.4017+30C= (n.4017+30C=) c.4149+30C= (n.4149+30C=) c.3969+30C= (n.3969+30C=) c.3906+30C= (n.3906+30C=) c.3750+30C= (n.3750+30C=) c.3681+30C= (n.3681+30C=) | |
6 | g.33164822G>T | CA2678226876 | COL11A2 | n.669+30C>A c.4863+30C>A (n.4863+30C>A) c.4542+30C>A (n.4542+30C>A) c.4605+30C>A (n.4605+30C>A) n.653+30C>A c.4017+30C>A (n.4017+30C>A) c.4149+30C>A (n.4149+30C>A) c.3969+30C>A (n.3969+30C>A) c.3906+30C>A (n.3906+30C>A) c.3750+30C>A (n.3750+30C>A) c.3681+30C>A (n.3681+30C>A) | gnomAD v4 |
6 | g.33164825del | CA2678226875 | COL11A2 | n.669+30del c.4863+30del (n.4863+30del) c.4542+30del (n.4542+30del) c.4605+30del (n.4605+30del) n.653+30del c.4017+30del (n.4017+30del) c.4149+30del (n.4149+30del) c.3969+30del (n.3969+30del) c.3906+30del (n.3906+30del) c.3750+30del (n.3750+30del) c.3681+30del (n.3681+30del) | gnomAD v4 |
6 | g.33164823G>A | CA566424974 | COL11A2 | n.669+29C>T c.4863+29C>T (n.4863+29C>T) c.4542+29C>T (n.4542+29C>T) c.4605+29C>T (n.4605+29C>T) n.653+29C>T c.4017+29C>T (n.4017+29C>T) c.4149+29C>T (n.4149+29C>T) c.3969+29C>T (n.3969+29C>T) c.3906+29C>T (n.3906+29C>T) c.3750+29C>T (n.3750+29C>T) c.3681+29C>T (n.3681+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164823G= | CA1619890347 | COL11A2 | n.669+29C= c.4863+29C= (n.4863+29C=) c.4542+29C= (n.4542+29C=) c.4605+29C= (n.4605+29C=) n.653+29C= c.4017+29C= (n.4017+29C=) c.4149+29C= (n.4149+29C=) c.3969+29C= (n.3969+29C=) c.3906+29C= (n.3906+29C=) c.3750+29C= (n.3750+29C=) c.3681+29C= (n.3681+29C=) | |
6 | g.33164823G>T | CA2678226879 | COL11A2 | n.669+29C>A c.4863+29C>A (n.4863+29C>A) c.4542+29C>A (n.4542+29C>A) c.4605+29C>A (n.4605+29C>A) n.653+29C>A c.4017+29C>A (n.4017+29C>A) c.4149+29C>A (n.4149+29C>A) c.3969+29C>A (n.3969+29C>A) c.3906+29C>A (n.3906+29C>A) c.3750+29C>A (n.3750+29C>A) c.3681+29C>A (n.3681+29C>A) | gnomAD v4 |
6 | g.33164824G>A | CA566424975 | COL11A2 | n.669+28C>T c.4863+28C>T (n.4863+28C>T) c.4542+28C>T (n.4542+28C>T) c.4605+28C>T (n.4605+28C>T) n.653+28C>T c.4017+28C>T (n.4017+28C>T) c.4149+28C>T (n.4149+28C>T) c.3969+28C>T (n.3969+28C>T) c.3906+28C>T (n.3906+28C>T) c.3750+28C>T (n.3750+28C>T) c.3681+28C>T (n.3681+28C>T) | dbSNP gnomAD v2 |
6 | g.33164824G>C | CA566424976 | COL11A2 | n.669+28C>G c.4863+28C>G (n.4863+28C>G) c.4542+28C>G (n.4542+28C>G) c.4605+28C>G (n.4605+28C>G) n.653+28C>G c.4017+28C>G (n.4017+28C>G) c.4149+28C>G (n.4149+28C>G) c.3969+28C>G (n.3969+28C>G) c.3906+28C>G (n.3906+28C>G) c.3750+28C>G (n.3750+28C>G) c.3681+28C>G (n.3681+28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164824G= | CA1619890351 | COL11A2 | n.669+28C= c.4863+28C= (n.4863+28C=) c.4542+28C= (n.4542+28C=) c.4605+28C= (n.4605+28C=) n.653+28C= c.4017+28C= (n.4017+28C=) c.4149+28C= (n.4149+28C=) c.3969+28C= (n.3969+28C=) c.3906+28C= (n.3906+28C=) c.3750+28C= (n.3750+28C=) c.3681+28C= (n.3681+28C=) | |
6 | g.33164824_33164834delinsGGAGGGGCAGC | CA1619890353 | COL11A2 | n.669+18_669+28delinsGCTGCCCCTCC c.4863+18_4863+28delinsGCTGCCCCTCC (n.4863+18_4863+28delinsGCTGCCCCTCC) c.4542+18_4542+28delinsGCTGCCCCTCC (n.4542+18_4542+28delinsGCTGCCCCTCC) c.4605+18_4605+28delinsGCTGCCCCTCC (n.4605+18_4605+28delinsGCTGCCCCTCC) n.653+18_653+28delinsGCTGCCCCTCC c.4017+18_4017+28delinsGCTGCCCCTCC (n.4017+18_4017+28delinsGCTGCCCCTCC) c.4149+18_4149+28delinsGCTGCCCCTCC (n.4149+18_4149+28delinsGCTGCCCCTCC) c.3969+18_3969+28delinsGCTGCCCCTCC (n.3969+18_3969+28delinsGCTGCCCCTCC) c.3906+18_3906+28delinsGCTGCCCCTCC (n.3906+18_3906+28delinsGCTGCCCCTCC) c.3750+18_3750+28delinsGCTGCCCCTCC (n.3750+18_3750+28delinsGCTGCCCCTCC) c.3681+18_3681+28delinsGCTGCCCCTCC (n.3681+18_3681+28delinsGCTGCCCCTCC) | |
6 | g.33164825G>A | CA2678226883 | COL11A2 | n.669+27C>T c.4863+27C>T (n.4863+27C>T) c.4542+27C>T (n.4542+27C>T) c.4605+27C>T (n.4605+27C>T) n.653+27C>T c.4017+27C>T (n.4017+27C>T) c.4149+27C>T (n.4149+27C>T) c.3969+27C>T (n.3969+27C>T) c.3906+27C>T (n.3906+27C>T) c.3750+27C>T (n.3750+27C>T) c.3681+27C>T (n.3681+27C>T) | gnomAD v4 |
6 | g.33164825G>T | CA2678226884 | COL11A2 | n.669+27C>A c.4863+27C>A (n.4863+27C>A) c.4542+27C>A (n.4542+27C>A) c.4605+27C>A (n.4605+27C>A) n.653+27C>A c.4017+27C>A (n.4017+27C>A) c.4149+27C>A (n.4149+27C>A) c.3969+27C>A (n.3969+27C>A) c.3906+27C>A (n.3906+27C>A) c.3750+27C>A (n.3750+27C>A) c.3681+27C>A (n.3681+27C>A) | gnomAD v4 |
6 | g.33164832_33164841del | CA824029745 | COL11A2 | n.669+18_669+27del c.4863+18_4863+27del (n.4863+18_4863+27del) c.4542+18_4542+27del (n.4542+18_4542+27del) c.4605+18_4605+27del (n.4605+18_4605+27del) n.653+18_653+27del c.4017+18_4017+27del (n.4017+18_4017+27del) c.4149+18_4149+27del (n.4149+18_4149+27del) c.3969+18_3969+27del (n.3969+18_3969+27del) c.3906+18_3906+27del (n.3906+18_3906+27del) c.3750+18_3750+27del (n.3750+18_3750+27del) c.3681+18_3681+27del (n.3681+18_3681+27del) | dbSNP |
6 | g.33164826A= | CA1619890359 | COL11A2 | n.669+26T= c.4863+26T= (n.4863+26T=) c.4542+26T= (n.4542+26T=) c.4605+26T= (n.4605+26T=) n.653+26T= c.4017+26T= (n.4017+26T=) c.4149+26T= (n.4149+26T=) c.3969+26T= (n.3969+26T=) c.3906+26T= (n.3906+26T=) c.3750+26T= (n.3750+26T=) c.3681+26T= (n.3681+26T=) | |
6 | g.33164826A>C | CA1087647709 | COL11A2 | n.669+26T>G c.4863+26T>G (n.4863+26T>G) c.4542+26T>G (n.4542+26T>G) c.4605+26T>G (n.4605+26T>G) n.653+26T>G c.4017+26T>G (n.4017+26T>G) c.4149+26T>G (n.4149+26T>G) c.3969+26T>G (n.3969+26T>G) c.3906+26T>G (n.3906+26T>G) c.3750+26T>G (n.3750+26T>G) c.3681+26T>G (n.3681+26T>G) | gnomAD v3 gnomAD v4 |
6 | g.33164826A>G | CA137061695 | COL11A2 | n.669+26T>C c.4863+26T>C (n.4863+26T>C) c.4542+26T>C (n.4542+26T>C) c.4605+26T>C (n.4605+26T>C) n.653+26T>C c.4017+26T>C (n.4017+26T>C) c.4149+26T>C (n.4149+26T>C) c.3969+26T>C (n.3969+26T>C) c.3906+26T>C (n.3906+26T>C) c.3750+26T>C (n.3750+26T>C) c.3681+26T>C (n.3681+26T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164826A>T | CA1087647710 | COL11A2 | n.669+26T>A c.4863+26T>A (n.4863+26T>A) c.4542+26T>A (n.4542+26T>A) c.4605+26T>A (n.4605+26T>A) n.653+26T>A c.4017+26T>A (n.4017+26T>A) c.4149+26T>A (n.4149+26T>A) c.3969+26T>A (n.3969+26T>A) c.3906+26T>A (n.3906+26T>A) c.3750+26T>A (n.3750+26T>A) c.3681+26T>A (n.3681+26T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164827G>A | CA566424978 | COL11A2 | n.669+25C>T c.4863+25C>T (n.4863+25C>T) c.4542+25C>T (n.4542+25C>T) c.4605+25C>T (n.4605+25C>T) n.653+25C>T c.4017+25C>T (n.4017+25C>T) c.4149+25C>T (n.4149+25C>T) c.3969+25C>T (n.3969+25C>T) c.3906+25C>T (n.3906+25C>T) c.3750+25C>T (n.3750+25C>T) c.3681+25C>T (n.3681+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164827G>C | CA2678226891 | COL11A2 | n.669+25C>G c.4863+25C>G (n.4863+25C>G) c.4542+25C>G (n.4542+25C>G) c.4605+25C>G (n.4605+25C>G) n.653+25C>G c.4017+25C>G (n.4017+25C>G) c.4149+25C>G (n.4149+25C>G) c.3969+25C>G (n.3969+25C>G) c.3906+25C>G (n.3906+25C>G) c.3750+25C>G (n.3750+25C>G) c.3681+25C>G (n.3681+25C>G) | gnomAD v4 |
6 | g.33164827G= | CA1619890362 | COL11A2 | n.669+25C= c.4863+25C= (n.4863+25C=) c.4542+25C= (n.4542+25C=) c.4605+25C= (n.4605+25C=) n.653+25C= c.4017+25C= (n.4017+25C=) c.4149+25C= (n.4149+25C=) c.3969+25C= (n.3969+25C=) c.3906+25C= (n.3906+25C=) c.3750+25C= (n.3750+25C=) c.3681+25C= (n.3681+25C=) | |
6 | g.33164827G>T | CA2678226890 | COL11A2 | n.669+25C>A c.4863+25C>A (n.4863+25C>A) c.4542+25C>A (n.4542+25C>A) c.4605+25C>A (n.4605+25C>A) n.653+25C>A c.4017+25C>A (n.4017+25C>A) c.4149+25C>A (n.4149+25C>A) c.3969+25C>A (n.3969+25C>A) c.3906+25C>A (n.3906+25C>A) c.3750+25C>A (n.3750+25C>A) c.3681+25C>A (n.3681+25C>A) | gnomAD v4 |
6 | g.33164828G>A | CA2678226892 | COL11A2 | n.669+24C>T c.4863+24C>T (n.4863+24C>T) c.4542+24C>T (n.4542+24C>T) c.4605+24C>T (n.4605+24C>T) n.653+24C>T c.4017+24C>T (n.4017+24C>T) c.4149+24C>T (n.4149+24C>T) c.3969+24C>T (n.3969+24C>T) c.3906+24C>T (n.3906+24C>T) c.3750+24C>T (n.3750+24C>T) c.3681+24C>T (n.3681+24C>T) | dbSNP gnomAD v4 |
6 | g.33164828G>T | CA2678226893 | COL11A2 | n.669+24C>A c.4863+24C>A (n.4863+24C>A) c.4542+24C>A (n.4542+24C>A) c.4605+24C>A (n.4605+24C>A) n.653+24C>A c.4017+24C>A (n.4017+24C>A) c.4149+24C>A (n.4149+24C>A) c.3969+24C>A (n.3969+24C>A) c.3906+24C>A (n.3906+24C>A) c.3750+24C>A (n.3750+24C>A) c.3681+24C>A (n.3681+24C>A) | gnomAD v4 |
6 | g.33164829G>A | CA3749983 | COL11A2 | n.669+23C>T c.4863+23C>T (n.4863+23C>T) c.4542+23C>T (n.4542+23C>T) c.4605+23C>T (n.4605+23C>T) n.653+23C>T c.4017+23C>T (n.4017+23C>T) c.4149+23C>T (n.4149+23C>T) c.3969+23C>T (n.3969+23C>T) c.3906+23C>T (n.3906+23C>T) c.3750+23C>T (n.3750+23C>T) c.3681+23C>T (n.3681+23C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164829G= | CA1619890365 | COL11A2 | n.669+23C= c.4863+23C= (n.4863+23C=) c.4542+23C= (n.4542+23C=) c.4605+23C= (n.4605+23C=) n.653+23C= c.4017+23C= (n.4017+23C=) c.4149+23C= (n.4149+23C=) c.3969+23C= (n.3969+23C=) c.3906+23C= (n.3906+23C=) c.3750+23C= (n.3750+23C=) c.3681+23C= (n.3681+23C=) | |
6 | g.33164830G>A | CA2678226894 | COL11A2 | n.669+22C>T c.4863+22C>T (n.4863+22C>T) c.4542+22C>T (n.4542+22C>T) c.4605+22C>T (n.4605+22C>T) n.653+22C>T c.4017+22C>T (n.4017+22C>T) c.4149+22C>T (n.4149+22C>T) c.3969+22C>T (n.3969+22C>T) c.3906+22C>T (n.3906+22C>T) c.3750+22C>T (n.3750+22C>T) c.3681+22C>T (n.3681+22C>T) | gnomAD v4 |
6 | g.33164830G>C | CA1087647713 | COL11A2 | n.669+22C>G c.4863+22C>G (n.4863+22C>G) c.4542+22C>G (n.4542+22C>G) c.4605+22C>G (n.4605+22C>G) n.653+22C>G c.4017+22C>G (n.4017+22C>G) c.4149+22C>G (n.4149+22C>G) c.3969+22C>G (n.3969+22C>G) c.3906+22C>G (n.3906+22C>G) c.3750+22C>G (n.3750+22C>G) c.3681+22C>G (n.3681+22C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164830G>T | CA2578581109 | COL11A2 | n.669+22C>A c.4863+22C>A (n.4863+22C>A) c.4542+22C>A (n.4542+22C>A) c.4605+22C>A (n.4605+22C>A) n.653+22C>A c.4017+22C>A (n.4017+22C>A) c.4149+22C>A (n.4149+22C>A) c.3969+22C>A (n.3969+22C>A) c.3906+22C>A (n.3906+22C>A) c.3750+22C>A (n.3750+22C>A) c.3681+22C>A (n.3681+22C>A) | gnomAD v4 |
6 | g.33164831C= | CA1619890367 | COL11A2 | n.669+21G= c.4863+21G= (n.4863+21G=) c.4542+21G= (n.4542+21G=) c.4605+21G= (n.4605+21G=) n.653+21G= c.4017+21G= (n.4017+21G=) c.4149+21G= (n.4149+21G=) c.3969+21G= (n.3969+21G=) c.3906+21G= (n.3906+21G=) c.3750+21G= (n.3750+21G=) c.3681+21G= (n.3681+21G=) | |
6 | g.33164831C>T | CA566424980 | COL11A2 | n.669+21G>A c.4863+21G>A (n.4863+21G>A) c.4542+21G>A (n.4542+21G>A) c.4605+21G>A (n.4605+21G>A) n.653+21G>A c.4017+21G>A (n.4017+21G>A) c.4149+21G>A (n.4149+21G>A) c.3969+21G>A (n.3969+21G>A) c.3906+21G>A (n.3906+21G>A) c.3750+21G>A (n.3750+21G>A) c.3681+21G>A (n.3681+21G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164832A>G | CA2678226895 | COL11A2 | n.669+20T>C c.4863+20T>C (n.4863+20T>C) c.4542+20T>C (n.4542+20T>C) c.4605+20T>C (n.4605+20T>C) n.653+20T>C c.4017+20T>C (n.4017+20T>C) c.4149+20T>C (n.4149+20T>C) c.3969+20T>C (n.3969+20T>C) c.3906+20T>C (n.3906+20T>C) c.3750+20T>C (n.3750+20T>C) c.3681+20T>C (n.3681+20T>C) | gnomAD v4 |
6 | g.33164833G>A | CA2678226896 | COL11A2 | n.669+19C>T c.4863+19C>T (n.4863+19C>T) c.4542+19C>T (n.4542+19C>T) c.4605+19C>T (n.4605+19C>T) n.653+19C>T c.4017+19C>T (n.4017+19C>T) c.4149+19C>T (n.4149+19C>T) c.3969+19C>T (n.3969+19C>T) c.3906+19C>T (n.3906+19C>T) c.3750+19C>T (n.3750+19C>T) c.3681+19C>T (n.3681+19C>T) | gnomAD v4 |
6 | g.33164833G>T | CA2578581110 | COL11A2 | n.669+19C>A c.4863+19C>A (n.4863+19C>A) c.4542+19C>A (n.4542+19C>A) c.4605+19C>A (n.4605+19C>A) n.653+19C>A c.4017+19C>A (n.4017+19C>A) c.4149+19C>A (n.4149+19C>A) c.3969+19C>A (n.3969+19C>A) c.3906+19C>A (n.3906+19C>A) c.3750+19C>A (n.3750+19C>A) c.3681+19C>A (n.3681+19C>A) | gnomAD v4 |
6 | g.33164834C>A | CA2678226897 | COL11A2 | n.669+18G>T c.4863+18G>T (n.4863+18G>T) c.4542+18G>T (n.4542+18G>T) c.4605+18G>T (n.4605+18G>T) n.653+18G>T c.4017+18G>T (n.4017+18G>T) c.4149+18G>T (n.4149+18G>T) c.3969+18G>T (n.3969+18G>T) c.3906+18G>T (n.3906+18G>T) c.3750+18G>T (n.3750+18G>T) c.3681+18G>T (n.3681+18G>T) | gnomAD v4 |
6 | g.33164834C= | CA1619890371 | COL11A2 | n.669+18G= c.4863+18G= (n.4863+18G=) c.4542+18G= (n.4542+18G=) c.4605+18G= (n.4605+18G=) n.653+18G= c.4017+18G= (n.4017+18G=) c.4149+18G= (n.4149+18G=) c.3969+18G= (n.3969+18G=) c.3906+18G= (n.3906+18G=) c.3750+18G= (n.3750+18G=) c.3681+18G= (n.3681+18G=) | |
6 | g.33164834C>G | CA824029754 | COL11A2 | n.669+18G>C c.4863+18G>C (n.4863+18G>C) c.4542+18G>C (n.4542+18G>C) c.4605+18G>C (n.4605+18G>C) n.653+18G>C c.4017+18G>C (n.4017+18G>C) c.4149+18G>C (n.4149+18G>C) c.3969+18G>C (n.3969+18G>C) c.3906+18G>C (n.3906+18G>C) c.3750+18G>C (n.3750+18G>C) c.3681+18G>C (n.3681+18G>C) | dbSNP gnomAD v4 |
6 | g.33164834C>T | CA137061700 | COL11A2 | n.669+18G>A c.4863+18G>A (n.4863+18G>A) c.4542+18G>A (n.4542+18G>A) c.4605+18G>A (n.4605+18G>A) n.653+18G>A c.4017+18G>A (n.4017+18G>A) c.4149+18G>A (n.4149+18G>A) c.3969+18G>A (n.3969+18G>A) c.3906+18G>A (n.3906+18G>A) c.3750+18G>A (n.3750+18G>A) c.3681+18G>A (n.3681+18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164835G>A | CA566424982 | COL11A2 | n.669+17C>T c.4863+17C>T (n.4863+17C>T) c.4542+17C>T (n.4542+17C>T) c.4605+17C>T (n.4605+17C>T) n.653+17C>T c.4017+17C>T (n.4017+17C>T) c.4149+17C>T (n.4149+17C>T) c.3969+17C>T (n.3969+17C>T) c.3906+17C>T (n.3906+17C>T) c.3750+17C>T (n.3750+17C>T) c.3681+17C>T (n.3681+17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164835G>C | CA2678226898 | COL11A2 | n.669+17C>G c.4863+17C>G (n.4863+17C>G) c.4542+17C>G (n.4542+17C>G) c.4605+17C>G (n.4605+17C>G) n.653+17C>G c.4017+17C>G (n.4017+17C>G) c.4149+17C>G (n.4149+17C>G) c.3969+17C>G (n.3969+17C>G) c.3906+17C>G (n.3906+17C>G) c.3750+17C>G (n.3750+17C>G) c.3681+17C>G (n.3681+17C>G) | gnomAD v4 |
6 | g.33164835G= | CA1619890375 | COL11A2 | n.669+17C= c.4863+17C= (n.4863+17C=) c.4542+17C= (n.4542+17C=) c.4605+17C= (n.4605+17C=) n.653+17C= c.4017+17C= (n.4017+17C=) c.4149+17C= (n.4149+17C=) c.3969+17C= (n.3969+17C=) c.3906+17C= (n.3906+17C=) c.3750+17C= (n.3750+17C=) c.3681+17C= (n.3681+17C=) | |
6 | g.33164835G>T | CA137061705 | COL11A2 | n.669+17C>A c.4863+17C>A (n.4863+17C>A) c.4542+17C>A (n.4542+17C>A) c.4605+17C>A (n.4605+17C>A) n.653+17C>A c.4017+17C>A (n.4017+17C>A) c.4149+17C>A (n.4149+17C>A) c.3969+17C>A (n.3969+17C>A) c.3906+17C>A (n.3906+17C>A) c.3750+17C>A (n.3750+17C>A) c.3681+17C>A (n.3681+17C>A) | dbSNP gnomAD v4 |
6 | g.33164838G>A | CA566424983 | COL11A2 | n.669+14C>T c.4863+14C>T (n.4863+14C>T) c.4542+14C>T (n.4542+14C>T) c.4605+14C>T (n.4605+14C>T) n.653+14C>T c.4017+14C>T (n.4017+14C>T) c.4149+14C>T (n.4149+14C>T) c.3969+14C>T (n.3969+14C>T) c.3906+14C>T (n.3906+14C>T) c.3750+14C>T (n.3750+14C>T) c.3681+14C>T (n.3681+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164838G= | CA1619890378 | COL11A2 | n.669+14C= c.4863+14C= (n.4863+14C=) c.4542+14C= (n.4542+14C=) c.4605+14C= (n.4605+14C=) n.653+14C= c.4017+14C= (n.4017+14C=) c.4149+14C= (n.4149+14C=) c.3969+14C= (n.3969+14C=) c.3906+14C= (n.3906+14C=) c.3750+14C= (n.3750+14C=) c.3681+14C= (n.3681+14C=) | |
6 | g.33164839G>T | CA2678226899 | COL11A2 | n.669+13C>A c.4863+13C>A (n.4863+13C>A) c.4542+13C>A (n.4542+13C>A) c.4605+13C>A (n.4605+13C>A) n.653+13C>A c.4017+13C>A (n.4017+13C>A) c.4149+13C>A (n.4149+13C>A) c.3969+13C>A (n.3969+13C>A) c.3906+13C>A (n.3906+13C>A) c.3750+13C>A (n.3750+13C>A) c.3681+13C>A (n.3681+13C>A) | gnomAD v4 |
6 | g.33164840G>A | CA566424985 | COL11A2 | n.669+12C>T c.4863+12C>T (n.4863+12C>T) c.4542+12C>T (n.4542+12C>T) c.4605+12C>T (n.4605+12C>T) n.653+12C>T c.4017+12C>T (n.4017+12C>T) c.4149+12C>T (n.4149+12C>T) c.3969+12C>T (n.3969+12C>T) c.3906+12C>T (n.3906+12C>T) c.3750+12C>T (n.3750+12C>T) c.3681+12C>T (n.3681+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164840G>C | CA2678226900 | COL11A2 | n.669+12C>G c.4863+12C>G (n.4863+12C>G) c.4542+12C>G (n.4542+12C>G) c.4605+12C>G (n.4605+12C>G) n.653+12C>G c.4017+12C>G (n.4017+12C>G) c.4149+12C>G (n.4149+12C>G) c.3969+12C>G (n.3969+12C>G) c.3906+12C>G (n.3906+12C>G) c.3750+12C>G (n.3750+12C>G) c.3681+12C>G (n.3681+12C>G) | gnomAD v4 |
6 | g.33164840G= | CA1619890379 | COL11A2 | n.669+12C= c.4863+12C= (n.4863+12C=) c.4542+12C= (n.4542+12C=) c.4605+12C= (n.4605+12C=) n.653+12C= c.4017+12C= (n.4017+12C=) c.4149+12C= (n.4149+12C=) c.3969+12C= (n.3969+12C=) c.3906+12C= (n.3906+12C=) c.3750+12C= (n.3750+12C=) c.3681+12C= (n.3681+12C=) | |
6 | g.33164840G>T | CA2678226901 | COL11A2 | n.669+12C>A c.4863+12C>A (n.4863+12C>A) c.4542+12C>A (n.4542+12C>A) c.4605+12C>A (n.4605+12C>A) n.653+12C>A c.4017+12C>A (n.4017+12C>A) c.4149+12C>A (n.4149+12C>A) c.3969+12C>A (n.3969+12C>A) c.3906+12C>A (n.3906+12C>A) c.3750+12C>A (n.3750+12C>A) c.3681+12C>A (n.3681+12C>A) | gnomAD v4 |
6 | g.33164841C>A | CA2678226902 | COL11A2 | n.669+11G>T c.4863+11G>T (n.4863+11G>T) c.4542+11G>T (n.4542+11G>T) c.4605+11G>T (n.4605+11G>T) n.653+11G>T c.4017+11G>T (n.4017+11G>T) c.4149+11G>T (n.4149+11G>T) c.3969+11G>T (n.3969+11G>T) c.3906+11G>T (n.3906+11G>T) c.3750+11G>T (n.3750+11G>T) c.3681+11G>T (n.3681+11G>T) | ClinVar gnomAD v4 |
6 | g.33164841C= | CA1619890381 | COL11A2 | n.669+11G= c.4863+11G= (n.4863+11G=) c.4542+11G= (n.4542+11G=) c.4605+11G= (n.4605+11G=) n.653+11G= c.4017+11G= (n.4017+11G=) c.4149+11G= (n.4149+11G=) c.3969+11G= (n.3969+11G=) c.3906+11G= (n.3906+11G=) c.3750+11G= (n.3750+11G=) c.3681+11G= (n.3681+11G=) | |
6 | g.33164841C>G | CA2711194876 | COL11A2 | n.669+11G>C c.4863+11G>C (n.4863+11G>C) c.4542+11G>C (n.4542+11G>C) c.4605+11G>C (n.4605+11G>C) n.653+11G>C c.4017+11G>C (n.4017+11G>C) c.4149+11G>C (n.4149+11G>C) c.3969+11G>C (n.3969+11G>C) c.3906+11G>C (n.3906+11G>C) c.3750+11G>C (n.3750+11G>C) c.3681+11G>C (n.3681+11G>C) | dbSNP |
6 | g.33164841C>T | CA1087647725 | COL11A2 | n.669+11G>A c.4863+11G>A (n.4863+11G>A) c.4542+11G>A (n.4542+11G>A) c.4605+11G>A (n.4605+11G>A) n.653+11G>A c.4017+11G>A (n.4017+11G>A) c.4149+11G>A (n.4149+11G>A) c.3969+11G>A (n.3969+11G>A) c.3906+11G>A (n.3906+11G>A) c.3750+11G>A (n.3750+11G>A) c.3681+11G>A (n.3681+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164842C>A | CA2678226903 | COL11A2 | n.669+10G>T c.4863+10G>T (n.4863+10G>T) c.4542+10G>T (n.4542+10G>T) c.4605+10G>T (n.4605+10G>T) n.653+10G>T c.4017+10G>T (n.4017+10G>T) c.4149+10G>T (n.4149+10G>T) c.3969+10G>T (n.3969+10G>T) c.3906+10G>T (n.3906+10G>T) c.3750+10G>T (n.3750+10G>T) c.3681+10G>T (n.3681+10G>T) | gnomAD v4 |
6 | g.33164842C>T | CA2678226904 | COL11A2 | n.669+10G>A c.4863+10G>A (n.4863+10G>A) c.4542+10G>A (n.4542+10G>A) c.4605+10G>A (n.4605+10G>A) n.653+10G>A c.4017+10G>A (n.4017+10G>A) c.4149+10G>A (n.4149+10G>A) c.3969+10G>A (n.3969+10G>A) c.3906+10G>A (n.3906+10G>A) c.3750+10G>A (n.3750+10G>A) c.3681+10G>A (n.3681+10G>A) | gnomAD v4 |
6 | g.33164844G>T | CA2678226905 | COL11A2 | n.669+8C>A c.4863+8C>A (n.4863+8C>A) c.4542+8C>A (n.4542+8C>A) c.4605+8C>A (n.4605+8C>A) n.653+8C>A c.4017+8C>A (n.4017+8C>A) c.4149+8C>A (n.4149+8C>A) c.3969+8C>A (n.3969+8C>A) c.3906+8C>A (n.3906+8C>A) c.3750+8C>A (n.3750+8C>A) c.3681+8C>A (n.3681+8C>A) | gnomAD v4 |
6 | g.33164845C>A | CA2678226906 | COL11A2 | n.669+7G>T c.4863+7G>T (n.4863+7G>T) c.4542+7G>T (n.4542+7G>T) c.4605+7G>T (n.4605+7G>T) n.653+7G>T c.4017+7G>T (n.4017+7G>T) c.4149+7G>T (n.4149+7G>T) c.3969+7G>T (n.3969+7G>T) c.3906+7G>T (n.3906+7G>T) c.3750+7G>T (n.3750+7G>T) c.3681+7G>T (n.3681+7G>T) | gnomAD v4 |
6 | g.33164845C= | CA1619890385 | COL11A2 | n.669+7G= c.4863+7G= (n.4863+7G=) c.4542+7G= (n.4542+7G=) c.4605+7G= (n.4605+7G=) n.653+7G= c.4017+7G= (n.4017+7G=) c.4149+7G= (n.4149+7G=) c.3969+7G= (n.3969+7G=) c.3906+7G= (n.3906+7G=) c.3750+7G= (n.3750+7G=) c.3681+7G= (n.3681+7G=) | |
6 | g.33164845C>G | CA2594850938 | COL11A2 | n.669+7G>C c.4863+7G>C (n.4863+7G>C) c.4542+7G>C (n.4542+7G>C) c.4605+7G>C (n.4605+7G>C) n.653+7G>C c.4017+7G>C (n.4017+7G>C) c.4149+7G>C (n.4149+7G>C) c.3969+7G>C (n.3969+7G>C) c.3906+7G>C (n.3906+7G>C) c.3750+7G>C (n.3750+7G>C) c.3681+7G>C (n.3681+7G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164845C>T | CA183322 | COL11A2 | n.669+7G>A c.4863+7G>A (n.4863+7G>A) c.4542+7G>A (n.4542+7G>A) c.4605+7G>A (n.4605+7G>A) n.653+7G>A c.4017+7G>A (n.4017+7G>A) c.4149+7G>A (n.4149+7G>A) c.3969+7G>A (n.3969+7G>A) c.3906+7G>A (n.3906+7G>A) c.3750+7G>A (n.3750+7G>A) c.3681+7G>A (n.3681+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164847C>A | CA2678226907 | COL11A2 | n.669+5G>T c.4863+5G>T (n.4863+5G>T) c.4542+5G>T (n.4542+5G>T) c.4605+5G>T (n.4605+5G>T) n.653+5G>T c.4017+5G>T (n.4017+5G>T) c.4149+5G>T (n.4149+5G>T) c.3969+5G>T (n.3969+5G>T) c.3906+5G>T (n.3906+5G>T) c.3750+5G>T (n.3750+5G>T) c.3681+5G>T (n.3681+5G>T) | gnomAD v4 |
6 | g.33164847C= | CA1619890393 | COL11A2 | n.669+5G= c.4863+5G= (n.4863+5G=) c.4542+5G= (n.4542+5G=) c.4605+5G= (n.4605+5G=) n.653+5G= c.4017+5G= (n.4017+5G=) c.4149+5G= (n.4149+5G=) c.3969+5G= (n.3969+5G=) c.3906+5G= (n.3906+5G=) c.3750+5G= (n.3750+5G=) c.3681+5G= (n.3681+5G=) | |
6 | g.33164847C>G | CA566424987 | COL11A2 | n.669+5G>C c.4863+5G>C (n.4863+5G>C) c.4542+5G>C (n.4542+5G>C) c.4605+5G>C (n.4605+5G>C) n.653+5G>C c.4017+5G>C (n.4017+5G>C) c.4149+5G>C (n.4149+5G>C) c.3969+5G>C (n.3969+5G>C) c.3906+5G>C (n.3906+5G>C) c.3750+5G>C (n.3750+5G>C) c.3681+5G>C (n.3681+5G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164847C>T | CA2770563331 | COL11A2 | n.669+5G>A c.4863+5G>A (n.4863+5G>A) c.4542+5G>A (n.4542+5G>A) c.4605+5G>A (n.4605+5G>A) n.653+5G>A c.4017+5G>A (n.4017+5G>A) c.4149+5G>A (n.4149+5G>A) c.3969+5G>A (n.3969+5G>A) c.3906+5G>A (n.3906+5G>A) c.3750+5G>A (n.3750+5G>A) c.3681+5G>A (n.3681+5G>A) | |
6 | g.33164849C>A | CA2678226908 | COL11A2 | n.669+3G>T c.4863+3G>T (n.4863+3G>T) c.4542+3G>T (n.4542+3G>T) c.4605+3G>T (n.4605+3G>T) n.653+3G>T c.4017+3G>T (n.4017+3G>T) c.4149+3G>T (n.4149+3G>T) c.3969+3G>T (n.3969+3G>T) c.3906+3G>T (n.3906+3G>T) c.3750+3G>T (n.3750+3G>T) c.3681+3G>T (n.3681+3G>T) | gnomAD v4 |
6 | g.33164849C= | CA1619890395 | COL11A2 | n.669+3G= c.4863+3G= (n.4863+3G=) c.4542+3G= (n.4542+3G=) c.4605+3G= (n.4605+3G=) n.653+3G= c.4017+3G= (n.4017+3G=) c.4149+3G= (n.4149+3G=) c.3969+3G= (n.3969+3G=) c.3906+3G= (n.3906+3G=) c.3750+3G= (n.3750+3G=) c.3681+3G= (n.3681+3G=) | |
6 | g.33164849C>T | CA3749984 | COL11A2 | n.669+3G>A c.4863+3G>A (n.4863+3G>A) c.4542+3G>A (n.4542+3G>A) c.4605+3G>A (n.4605+3G>A) n.653+3G>A c.4017+3G>A (n.4017+3G>A) c.4149+3G>A (n.4149+3G>A) c.3969+3G>A (n.3969+3G>A) c.3906+3G>A (n.3906+3G>A) c.3750+3G>A (n.3750+3G>A) c.3681+3G>A (n.3681+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164850A>C | CA363617349 | COL11A2 | n.669+2T>G c.4863+2T>G (n.4863+2T>G) c.4542+2T>G (n.4542+2T>G) c.4605+2T>G (n.4605+2T>G) n.653+2T>G c.4017+2T>G (n.4017+2T>G) c.4149+2T>G (n.4149+2T>G) c.3969+2T>G (n.3969+2T>G) c.3906+2T>G (n.3906+2T>G) c.3750+2T>G (n.3750+2T>G) c.3681+2T>G (n.3681+2T>G) | |
6 | g.33164850A>G | CA363617352 | COL11A2 | n.669+2T>C c.4863+2T>C (n.4863+2T>C) c.4542+2T>C (n.4542+2T>C) c.4605+2T>C (n.4605+2T>C) n.653+2T>C c.4017+2T>C (n.4017+2T>C) c.4149+2T>C (n.4149+2T>C) c.3969+2T>C (n.3969+2T>C) c.3906+2T>C (n.3906+2T>C) c.3750+2T>C (n.3750+2T>C) c.3681+2T>C (n.3681+2T>C) | |
6 | g.33164850A>T | CA363617350 | COL11A2 | n.669+2T>A c.4863+2T>A (n.4863+2T>A) c.4542+2T>A (n.4542+2T>A) c.4605+2T>A (n.4605+2T>A) n.653+2T>A c.4017+2T>A (n.4017+2T>A) c.4149+2T>A (n.4149+2T>A) c.3969+2T>A (n.3969+2T>A) c.3906+2T>A (n.3906+2T>A) c.3750+2T>A (n.3750+2T>A) c.3681+2T>A (n.3681+2T>A) | |
6 | g.33164851C>A | CA363617355 | COL11A2 | n.669+1G>T c.4863+1G>T (n.4863+1G>T) c.4542+1G>T (n.4542+1G>T) c.4605+1G>T (n.4605+1G>T) n.653+1G>T c.4017+1G>T (n.4017+1G>T) c.4149+1G>T (n.4149+1G>T) c.3969+1G>T (n.3969+1G>T) c.3906+1G>T (n.3906+1G>T) c.3750+1G>T (n.3750+1G>T) c.3681+1G>T (n.3681+1G>T) | gnomAD v4 |
6 | g.33164851C= | CA1619890400 | COL11A2 | n.669+1G= c.4863+1G= (n.4863+1G=) c.4542+1G= (n.4542+1G=) c.4605+1G= (n.4605+1G=) n.653+1G= c.4017+1G= (n.4017+1G=) c.4149+1G= (n.4149+1G=) c.3969+1G= (n.3969+1G=) c.3906+1G= (n.3906+1G=) c.3750+1G= (n.3750+1G=) c.3681+1G= (n.3681+1G=) | |
6 | g.33164851C>G | CA363617356 | COL11A2 | n.669+1G>C c.4863+1G>C (n.4863+1G>C) c.4542+1G>C (n.4542+1G>C) c.4605+1G>C (n.4605+1G>C) n.653+1G>C c.4017+1G>C (n.4017+1G>C) c.4149+1G>C (n.4149+1G>C) c.3969+1G>C (n.3969+1G>C) c.3906+1G>C (n.3906+1G>C) c.3750+1G>C (n.3750+1G>C) c.3681+1G>C (n.3681+1G>C) | |
6 | g.33164851C>T | CA363617359 | COL11A2 | n.669+1G>A c.4863+1G>A (n.4863+1G>A) c.4542+1G>A (n.4542+1G>A) c.4605+1G>A (n.4605+1G>A) n.653+1G>A c.4017+1G>A (n.4017+1G>A) c.4149+1G>A (n.4149+1G>A) c.3969+1G>A (n.3969+1G>A) c.3906+1G>A (n.3906+1G>A) c.3750+1G>A (n.3750+1G>A) c.3681+1G>A (n.3681+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164852C>A | CA363617361 | COL11A2 | n.669G>T c.4863G>T (p.Gln1621His) c.4542G>T (p.Gln1514His) c.4605G>T (p.Gln1535His) n.653G>T c.4017G>T (p.Gln1339His) c.4149G>T (p.Gln1383His) c.3969G>T (p.Gln1323His) c.3906G>T (p.Gln1302His) c.3750G>T (p.Gln1250His) c.3681G>T (p.Gln1227His) | gnomAD v4 |
6 | g.33164852C>G | CA363617363 | COL11A2 | n.669G>C c.4863G>C (p.Gln1621His) c.4542G>C (p.Gln1514His) c.4605G>C (p.Gln1535His) n.653G>C c.4017G>C (p.Gln1339His) c.4149G>C (p.Gln1383His) c.3969G>C (p.Gln1323His) c.3906G>C (p.Gln1302His) c.3750G>C (p.Gln1250His) c.3681G>C (p.Gln1227His) | |
6 | g.33164852C>T | CA449867219 | COL11A2 | n.669G>A c.4863G>A (p.Gln1621=) c.4542G>A (p.Gln1514=) c.4605G>A (p.Gln1535=) n.653G>A c.4017G>A (p.Gln1339=) c.4149G>A (p.Gln1383=) c.3969G>A (p.Gln1323=) c.3906G>A (p.Gln1302=) c.3750G>A (p.Gln1250=) c.3681G>A (p.Gln1227=) | |
6 | g.33164853T>A | CA363617365 | COL11A2 | n.668A>T c.4862A>T (p.Gln1621Leu) c.4541A>T (p.Gln1514Leu) c.4604A>T (p.Gln1535Leu) n.652A>T c.4016A>T (p.Gln1339Leu) c.4148A>T (p.Gln1383Leu) c.3968A>T (p.Gln1323Leu) c.3905A>T (p.Gln1302Leu) c.3749A>T (p.Gln1250Leu) c.3680A>T (p.Gln1227Leu) | |
6 | g.33164853T>C | CA363617367 | COL11A2 | n.668A>G c.4862A>G (p.Gln1621Arg) c.4541A>G (p.Gln1514Arg) c.4604A>G (p.Gln1535Arg) n.652A>G c.4016A>G (p.Gln1339Arg) c.4148A>G (p.Gln1383Arg) c.3968A>G (p.Gln1323Arg) c.3905A>G (p.Gln1302Arg) c.3749A>G (p.Gln1250Arg) c.3680A>G (p.Gln1227Arg) | ClinVar dbSNP |
6 | g.33164853T>G | CA363617369 | COL11A2 | n.668A>C c.4862A>C (p.Gln1621Pro) c.4541A>C (p.Gln1514Pro) c.4604A>C (p.Gln1535Pro) n.652A>C c.4016A>C (p.Gln1339Pro) c.4148A>C (p.Gln1383Pro) c.3968A>C (p.Gln1323Pro) c.3905A>C (p.Gln1302Pro) c.3749A>C (p.Gln1250Pro) c.3680A>C (p.Gln1227Pro) | |
6 | g.33164854G>A | CA363617370 | COL11A2 | n.667C>T c.4861C>T (p.Gln1621Ter) c.4540C>T (p.Gln1514Ter) c.4603C>T (p.Gln1535Ter) n.651C>T c.4015C>T (p.Gln1339Ter) c.4147C>T (p.Gln1383Ter) c.3967C>T (p.Gln1323Ter) c.3904C>T (p.Gln1302Ter) c.3748C>T (p.Gln1250Ter) c.3679C>T (p.Gln1227Ter) | |
6 | g.33164854G>C | CA363617372 | COL11A2 | n.667C>G c.4861C>G (p.Gln1621Glu) c.4540C>G (p.Gln1514Glu) c.4603C>G (p.Gln1535Glu) n.651C>G c.4015C>G (p.Gln1339Glu) c.4147C>G (p.Gln1383Glu) c.3967C>G (p.Gln1323Glu) c.3904C>G (p.Gln1302Glu) c.3748C>G (p.Gln1250Glu) c.3679C>G (p.Gln1227Glu) | |
6 | g.33164854G>T | CA363617374 | COL11A2 | n.667C>A c.4861C>A (p.Gln1621Lys) c.4540C>A (p.Gln1514Lys) c.4603C>A (p.Gln1535Lys) n.651C>A c.4015C>A (p.Gln1339Lys) c.4147C>A (p.Gln1383Lys) c.3967C>A (p.Gln1323Lys) c.3904C>A (p.Gln1302Lys) c.3748C>A (p.Gln1250Lys) c.3679C>A (p.Gln1227Lys) | gnomAD v4 |
6 | g.33164855C>A | CA449867223 | COL11A2 | n.666G>T c.4860G>T (p.Thr1620=) c.4539G>T (p.Thr1513=) c.4602G>T (p.Thr1534=) n.650G>T c.4014G>T (p.Thr1338=) c.4146G>T (p.Thr1382=) c.3966G>T (p.Thr1322=) c.3903G>T (p.Thr1301=) c.3747G>T (p.Thr1249=) c.3678G>T (p.Thr1226=) | dbSNP gnomAD v4 |
6 | g.33164855C= | CA1619890404 | COL11A2 | n.666G= c.4860G= (p.Thr1620=) c.4539G= (p.Thr1513=) c.4602G= (p.Thr1534=) n.650G= c.4014G= (p.Thr1338=) c.4146G= (p.Thr1382=) c.3966G= (p.Thr1322=) c.3903G= (p.Thr1301=) c.3747G= (p.Thr1249=) c.3678G= (p.Thr1226=) | |
6 | g.33164855C>G | CA449867224 | COL11A2 | n.666G>C c.4860G>C (p.Thr1620=) c.4539G>C (p.Thr1513=) c.4602G>C (p.Thr1534=) n.650G>C c.4014G>C (p.Thr1338=) c.4146G>C (p.Thr1382=) c.3966G>C (p.Thr1322=) c.3903G>C (p.Thr1301=) c.3747G>C (p.Thr1249=) c.3678G>C (p.Thr1226=) | |
6 | g.33164855C>T | CA3749985 | COL11A2 | n.666G>A c.4860G>A (p.Thr1620=) c.4539G>A (p.Thr1513=) c.4602G>A (p.Thr1534=) n.650G>A c.4014G>A (p.Thr1338=) c.4146G>A (p.Thr1382=) c.3966G>A (p.Thr1322=) c.3903G>A (p.Thr1301=) c.3747G>A (p.Thr1249=) c.3678G>A (p.Thr1226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164856G>A | CA3749986 | COL11A2 | n.665C>T c.4859C>T (p.Thr1620Met) c.4538C>T (p.Thr1513Met) c.4601C>T (p.Thr1534Met) n.649C>T c.4013C>T (p.Thr1338Met) c.4145C>T (p.Thr1382Met) c.3965C>T (p.Thr1322Met) c.3902C>T (p.Thr1301Met) c.3746C>T (p.Thr1249Met) c.3677C>T (p.Thr1226Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164856G>C | CA363617377 | COL11A2 | n.665C>G c.4859C>G (p.Thr1620Arg) c.4538C>G (p.Thr1513Arg) c.4601C>G (p.Thr1534Arg) n.649C>G c.4013C>G (p.Thr1338Arg) c.4145C>G (p.Thr1382Arg) c.3965C>G (p.Thr1322Arg) c.3902C>G (p.Thr1301Arg) c.3746C>G (p.Thr1249Arg) c.3677C>G (p.Thr1226Arg) | |
6 | g.33164856G= | CA1619890409 | COL11A2 | n.665C= c.4859C= (p.Thr1620=) c.4538C= (p.Thr1513=) c.4601C= (p.Thr1534=) n.649C= c.4013C= (p.Thr1338=) c.4145C= (p.Thr1382=) c.3965C= (p.Thr1322=) c.3902C= (p.Thr1301=) c.3746C= (p.Thr1249=) c.3677C= (p.Thr1226=) | |
6 | g.33164856G>T | CA363617380 | COL11A2 | n.665C>A c.4859C>A (p.Thr1620Lys) c.4538C>A (p.Thr1513Lys) c.4601C>A (p.Thr1534Lys) n.649C>A c.4013C>A (p.Thr1338Lys) c.4145C>A (p.Thr1382Lys) c.3965C>A (p.Thr1322Lys) c.3902C>A (p.Thr1301Lys) c.3746C>A (p.Thr1249Lys) c.3677C>A (p.Thr1226Lys) | dbSNP gnomAD v4 |
6 | g.33164857T>A | CA363617382 | COL11A2 | n.664A>T c.4858A>T (p.Thr1620Ser) c.4537A>T (p.Thr1513Ser) c.4600A>T (p.Thr1534Ser) n.648A>T c.4012A>T (p.Thr1338Ser) c.4144A>T (p.Thr1382Ser) c.3964A>T (p.Thr1322Ser) c.3901A>T (p.Thr1301Ser) c.3745A>T (p.Thr1249Ser) c.3676A>T (p.Thr1226Ser) | |
6 | g.33164857T>C | CA363617383 | COL11A2 | n.664A>G c.4858A>G (p.Thr1620Ala) c.4537A>G (p.Thr1513Ala) c.4600A>G (p.Thr1534Ala) n.648A>G c.4012A>G (p.Thr1338Ala) c.4144A>G (p.Thr1382Ala) c.3964A>G (p.Thr1322Ala) c.3901A>G (p.Thr1301Ala) c.3745A>G (p.Thr1249Ala) c.3676A>G (p.Thr1226Ala) | |
6 | g.33164857T>G | CA363617385 | COL11A2 | n.664A>C c.4858A>C (p.Thr1620Pro) c.4537A>C (p.Thr1513Pro) c.4600A>C (p.Thr1534Pro) n.648A>C c.4012A>C (p.Thr1338Pro) c.4144A>C (p.Thr1382Pro) c.3964A>C (p.Thr1322Pro) c.3901A>C (p.Thr1301Pro) c.3745A>C (p.Thr1249Pro) c.3676A>C (p.Thr1226Pro) | |
6 | g.33164858G>A | CA449867229 | COL11A2 | n.663C>T c.4857C>T (p.Val1619=) c.4536C>T (p.Val1512=) c.4599C>T (p.Val1533=) n.647C>T c.4011C>T (p.Val1337=) c.4143C>T (p.Val1381=) c.3963C>T (p.Val1321=) c.3900C>T (p.Val1300=) c.3744C>T (p.Val1248=) c.3675C>T (p.Val1225=) | |
6 | g.33164858G>C | CA449867231 | COL11A2 | n.663C>G c.4857C>G (p.Val1619=) c.4536C>G (p.Val1512=) c.4599C>G (p.Val1533=) n.647C>G c.4011C>G (p.Val1337=) c.4143C>G (p.Val1381=) c.3963C>G (p.Val1321=) c.3900C>G (p.Val1300=) c.3744C>G (p.Val1248=) c.3675C>G (p.Val1225=) | gnomAD v3 gnomAD v4 |
6 | g.33164858G>T | CA449867230 | COL11A2 | n.663C>A c.4857C>A (p.Val1619=) c.4536C>A (p.Val1512=) c.4599C>A (p.Val1533=) n.647C>A c.4011C>A (p.Val1337=) c.4143C>A (p.Val1381=) c.3963C>A (p.Val1321=) c.3900C>A (p.Val1300=) c.3744C>A (p.Val1248=) c.3675C>A (p.Val1225=) | |
6 | g.33164859A= | CA1619890415 | COL11A2 | n.662T= c.4856T= (p.Val1619=) c.4535T= (p.Val1512=) c.4598T= (p.Val1533=) n.646T= c.4010T= (p.Val1337=) c.4142T= (p.Val1381=) c.3962T= (p.Val1321=) c.3899T= (p.Val1300=) c.3743T= (p.Val1248=) c.3674T= (p.Val1225=) | |
6 | g.33164859A>C | CA363617391 | COL11A2 | n.662T>G c.4856T>G (p.Val1619Gly) c.4535T>G (p.Val1512Gly) c.4598T>G (p.Val1533Gly) n.646T>G c.4010T>G (p.Val1337Gly) c.4142T>G (p.Val1381Gly) c.3962T>G (p.Val1321Gly) c.3899T>G (p.Val1300Gly) c.3743T>G (p.Val1248Gly) c.3674T>G (p.Val1225Gly) | |
6 | g.33164859A>G | CA3749987 | COL11A2 | n.662T>C c.4856T>C (p.Val1619Ala) c.4535T>C (p.Val1512Ala) c.4598T>C (p.Val1533Ala) n.646T>C c.4010T>C (p.Val1337Ala) c.4142T>C (p.Val1381Ala) c.3962T>C (p.Val1321Ala) c.3899T>C (p.Val1300Ala) c.3743T>C (p.Val1248Ala) c.3674T>C (p.Val1225Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164859A>T | CA363617387 | COL11A2 | n.662T>A c.4856T>A (p.Val1619Asp) c.4535T>A (p.Val1512Asp) c.4598T>A (p.Val1533Asp) n.646T>A c.4010T>A (p.Val1337Asp) c.4142T>A (p.Val1381Asp) c.3962T>A (p.Val1321Asp) c.3899T>A (p.Val1300Asp) c.3743T>A (p.Val1248Asp) c.3674T>A (p.Val1225Asp) | dbSNP gnomAD v2 |
6 | g.33164860C>A | CA363617394 | COL11A2 | n.661G>T c.4855G>T (p.Val1619Phe) c.4534G>T (p.Val1512Phe) c.4597G>T (p.Val1533Phe) n.645G>T c.4009G>T (p.Val1337Phe) c.4141G>T (p.Val1381Phe) c.3961G>T (p.Val1321Phe) c.3898G>T (p.Val1300Phe) c.3742G>T (p.Val1248Phe) c.3673G>T (p.Val1225Phe) | |
6 | g.33164860C= | CA1619890421 | COL11A2 | n.661G= c.4855G= (p.Val1619=) c.4534G= (p.Val1512=) c.4597G= (p.Val1533=) n.645G= c.4009G= (p.Val1337=) c.4141G= (p.Val1381=) c.3961G= (p.Val1321=) c.3898G= (p.Val1300=) c.3742G= (p.Val1248=) c.3673G= (p.Val1225=) | |
6 | g.33164860C>G | CA363617395 | COL11A2 | n.661G>C c.4855G>C (p.Val1619Leu) c.4534G>C (p.Val1512Leu) c.4597G>C (p.Val1533Leu) n.645G>C c.4009G>C (p.Val1337Leu) c.4141G>C (p.Val1381Leu) c.3961G>C (p.Val1321Leu) c.3898G>C (p.Val1300Leu) c.3742G>C (p.Val1248Leu) c.3673G>C (p.Val1225Leu) | |
6 | g.33164860C>T | CA363617396 | COL11A2 | n.661G>A c.4855G>A (p.Val1619Ile) c.4534G>A (p.Val1512Ile) c.4597G>A (p.Val1533Ile) n.645G>A c.4009G>A (p.Val1337Ile) c.4141G>A (p.Val1381Ile) c.3961G>A (p.Val1321Ile) c.3898G>A (p.Val1300Ile) c.3742G>A (p.Val1248Ile) c.3673G>A (p.Val1225Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164861G>A | CA3749988 | COL11A2 | n.660C>T c.4854C>T (p.Asp1618=) c.4533C>T (p.Asp1511=) c.4596C>T (p.Asp1532=) n.644C>T c.4008C>T (p.Asp1336=) c.4140C>T (p.Asp1380=) c.3960C>T (p.Asp1320=) c.3897C>T (p.Asp1299=) c.3741C>T (p.Asp1247=) c.3672C>T (p.Asp1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164861G>C | CA3749989 | COL11A2 | n.660C>G c.4854C>G (p.Asp1618Glu) c.4533C>G (p.Asp1511Glu) c.4596C>G (p.Asp1532Glu) n.644C>G c.4008C>G (p.Asp1336Glu) c.4140C>G (p.Asp1380Glu) c.3960C>G (p.Asp1320Glu) c.3897C>G (p.Asp1299Glu) c.3741C>G (p.Asp1247Glu) c.3672C>G (p.Asp1224Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.33164861G= | CA1619890425 | COL11A2 | n.660C= c.4854C= (p.Asp1618=) c.4533C= (p.Asp1511=) c.4596C= (p.Asp1532=) n.644C= c.4008C= (p.Asp1336=) c.4140C= (p.Asp1380=) c.3960C= (p.Asp1320=) c.3897C= (p.Asp1299=) c.3741C= (p.Asp1247=) c.3672C= (p.Asp1224=) | |
6 | g.33164861G>T | CA363617400 | COL11A2 | n.660C>A c.4854C>A (p.Asp1618Glu) c.4533C>A (p.Asp1511Glu) c.4596C>A (p.Asp1532Glu) n.644C>A c.4008C>A (p.Asp1336Glu) c.4140C>A (p.Asp1380Glu) c.3960C>A (p.Asp1320Glu) c.3897C>A (p.Asp1299Glu) c.3741C>A (p.Asp1247Glu) c.3672C>A (p.Asp1224Glu) | ClinVar |
6 | g.33164862T>A | CA363617401 | COL11A2 | n.659A>T c.4853A>T (p.Asp1618Val) c.4532A>T (p.Asp1511Val) c.4595A>T (p.Asp1532Val) n.643A>T c.4007A>T (p.Asp1336Val) c.4139A>T (p.Asp1380Val) c.3959A>T (p.Asp1320Val) c.3896A>T (p.Asp1299Val) c.3740A>T (p.Asp1247Val) c.3671A>T (p.Asp1224Val) | |
6 | g.33164862T>C | CA363617405 | COL11A2 | n.659A>G c.4853A>G (p.Asp1618Gly) c.4532A>G (p.Asp1511Gly) c.4595A>G (p.Asp1532Gly) n.643A>G c.4007A>G (p.Asp1336Gly) c.4139A>G (p.Asp1380Gly) c.3959A>G (p.Asp1320Gly) c.3896A>G (p.Asp1299Gly) c.3740A>G (p.Asp1247Gly) c.3671A>G (p.Asp1224Gly) | |
6 | g.33164862T>G | CA363617403 | COL11A2 | n.659A>C c.4853A>C (p.Asp1618Ala) c.4532A>C (p.Asp1511Ala) c.4595A>C (p.Asp1532Ala) n.643A>C c.4007A>C (p.Asp1336Ala) c.4139A>C (p.Asp1380Ala) c.3959A>C (p.Asp1320Ala) c.3896A>C (p.Asp1299Ala) c.3740A>C (p.Asp1247Ala) c.3671A>C (p.Asp1224Ala) | |
6 | g.33164862_33164866del | CA2770563340 | COL11A2 | n.655_659del c.4849_4853del (p.Asp1617ArgfsTer?) c.4528_4532del (p.Asp1510ArgfsTer?) c.4591_4595del (p.Asp1531ArgfsTer?) n.639_643del c.4003_4007del (p.Asp1335ArgfsTer?) c.4135_4139del (p.Asp1379ArgfsTer?) c.3955_3959del (p.Asp1319ArgfsTer?) c.3892_3896del (p.Asp1298ArgfsTer?) c.3736_3740del (p.Asp1246ArgfsTer?) c.3667_3671del (p.Asp1223ArgfsTer?) | |
6 | g.33164863C>A | CA363617406 | COL11A2 | n.658G>T c.4852G>T (p.Asp1618Tyr) c.4531G>T (p.Asp1511Tyr) c.4594G>T (p.Asp1532Tyr) n.642G>T c.4006G>T (p.Asp1336Tyr) c.4138G>T (p.Asp1380Tyr) c.3958G>T (p.Asp1320Tyr) c.3895G>T (p.Asp1299Tyr) c.3739G>T (p.Asp1247Tyr) c.3670G>T (p.Asp1224Tyr) | gnomAD v4 |
6 | g.33164863C>G | CA363617408 | COL11A2 | n.658G>C c.4852G>C (p.Asp1618His) c.4531G>C (p.Asp1511His) c.4594G>C (p.Asp1532His) n.642G>C c.4006G>C (p.Asp1336His) c.4138G>C (p.Asp1380His) c.3958G>C (p.Asp1320His) c.3895G>C (p.Asp1299His) c.3739G>C (p.Asp1247His) c.3670G>C (p.Asp1224His) | |
6 | g.33164863C>T | CA363617410 | COL11A2 | n.658G>A c.4852G>A (p.Asp1618Asn) c.4531G>A (p.Asp1511Asn) c.4594G>A (p.Asp1532Asn) n.642G>A c.4006G>A (p.Asp1336Asn) c.4138G>A (p.Asp1380Asn) c.3958G>A (p.Asp1320Asn) c.3895G>A (p.Asp1299Asn) c.3739G>A (p.Asp1247Asn) c.3670G>A (p.Asp1224Asn) | |
6 | g.33164864A>C | CA363617412 | COL11A2 | n.657T>G c.4851T>G (p.Asp1617Glu) c.4530T>G (p.Asp1510Glu) c.4593T>G (p.Asp1531Glu) n.641T>G c.4005T>G (p.Asp1335Glu) c.4137T>G (p.Asp1379Glu) c.3957T>G (p.Asp1319Glu) c.3894T>G (p.Asp1298Glu) c.3738T>G (p.Asp1246Glu) c.3669T>G (p.Asp1223Glu) | |
6 | g.33164864A>G | CA449867243 | COL11A2 | n.657T>C c.4851T>C (p.Asp1617=) c.4530T>C (p.Asp1510=) c.4593T>C (p.Asp1531=) n.641T>C c.4005T>C (p.Asp1335=) c.4137T>C (p.Asp1379=) c.3957T>C (p.Asp1319=) c.3894T>C (p.Asp1298=) c.3738T>C (p.Asp1246=) c.3669T>C (p.Asp1223=) | |
6 | g.33164864A>T | CA363617413 | COL11A2 | n.657T>A c.4851T>A (p.Asp1617Glu) c.4530T>A (p.Asp1510Glu) c.4593T>A (p.Asp1531Glu) n.641T>A c.4005T>A (p.Asp1335Glu) c.4137T>A (p.Asp1379Glu) c.3957T>A (p.Asp1319Glu) c.3894T>A (p.Asp1298Glu) c.3738T>A (p.Asp1246Glu) c.3669T>A (p.Asp1223Glu) | |
6 | g.33164865T>A | CA363617417 | COL11A2 | n.656A>T c.4850A>T (p.Asp1617Val) c.4529A>T (p.Asp1510Val) c.4592A>T (p.Asp1531Val) n.640A>T c.4004A>T (p.Asp1335Val) c.4136A>T (p.Asp1379Val) c.3956A>T (p.Asp1319Val) c.3893A>T (p.Asp1298Val) c.3737A>T (p.Asp1246Val) c.3668A>T (p.Asp1223Val) | |
6 | g.33164865T>C | CA363617419 | COL11A2 | n.656A>G c.4850A>G (p.Asp1617Gly) c.4529A>G (p.Asp1510Gly) c.4592A>G (p.Asp1531Gly) n.640A>G c.4004A>G (p.Asp1335Gly) c.4136A>G (p.Asp1379Gly) c.3956A>G (p.Asp1319Gly) c.3893A>G (p.Asp1298Gly) c.3737A>G (p.Asp1246Gly) c.3668A>G (p.Asp1223Gly) | |
6 | g.33164865T>G | CA363617420 | COL11A2 | n.656A>C c.4850A>C (p.Asp1617Ala) c.4529A>C (p.Asp1510Ala) c.4592A>C (p.Asp1531Ala) n.640A>C c.4004A>C (p.Asp1335Ala) c.4136A>C (p.Asp1379Ala) c.3956A>C (p.Asp1319Ala) c.3893A>C (p.Asp1298Ala) c.3737A>C (p.Asp1246Ala) c.3668A>C (p.Asp1223Ala) | |
6 | g.33164865_33164866delinsTC | CA1619890432 | COL11A2 | n.655_656delinsGA c.4849_4850delinsGA (p.Asp1617=) c.4528_4529delinsGA (p.Asp1510=) c.4591_4592delinsGA (p.Asp1531=) n.639_640delinsGA c.4003_4004delinsGA (p.Asp1335=) c.4135_4136delinsGA (p.Asp1379=) c.3955_3956delinsGA (p.Asp1319=) c.3892_3893delinsGA (p.Asp1298=) c.3736_3737delinsGA (p.Asp1246=) c.3667_3668delinsGA (p.Asp1223=) | |
6 | g.33164866C>A | CA363617422 | COL11A2 | n.655G>T c.4849G>T (p.Asp1617Tyr) c.4528G>T (p.Asp1510Tyr) c.4591G>T (p.Asp1531Tyr) n.639G>T c.4003G>T (p.Asp1335Tyr) c.4135G>T (p.Asp1379Tyr) c.3955G>T (p.Asp1319Tyr) c.3892G>T (p.Asp1298Tyr) c.3736G>T (p.Asp1246Tyr) c.3667G>T (p.Asp1223Tyr) | dbSNP gnomAD v4 |
6 | g.33164866C= | CA1619890436 | COL11A2 | n.655G= c.4849G= (p.Asp1617=) c.4528G= (p.Asp1510=) c.4591G= (p.Asp1531=) n.639G= c.4003G= (p.Asp1335=) c.4135G= (p.Asp1379=) c.3955G= (p.Asp1319=) c.3892G= (p.Asp1298=) c.3736G= (p.Asp1246=) c.3667G= (p.Asp1223=) | |
6 | g.33164866C>G | CA363617424 | COL11A2 | n.655G>C c.4849G>C (p.Asp1617His) c.4528G>C (p.Asp1510His) c.4591G>C (p.Asp1531His) n.639G>C c.4003G>C (p.Asp1335His) c.4135G>C (p.Asp1379His) c.3955G>C (p.Asp1319His) c.3892G>C (p.Asp1298His) c.3736G>C (p.Asp1246His) c.3667G>C (p.Asp1223His) | |
6 | g.33164866C>T | CA363617426 | COL11A2 | n.655G>A c.4849G>A (p.Asp1617Asn) c.4528G>A (p.Asp1510Asn) c.4591G>A (p.Asp1531Asn) n.639G>A c.4003G>A (p.Asp1335Asn) c.4135G>A (p.Asp1379Asn) c.3955G>A (p.Asp1319Asn) c.3892G>A (p.Asp1298Asn) c.3736G>A (p.Asp1246Asn) c.3667G>A (p.Asp1223Asn) | |
6 | g.33164868del | CA566424989 | COL11A2 | n.655del c.4849del (p.Asp1617MetfsTer?) c.4528del (p.Asp1510MetfsTer?) c.4591del (p.Asp1531MetfsTer?) n.639del c.4003del (p.Asp1335MetfsTer?) c.4135del (p.Asp1379MetfsTer?) c.3955del (p.Asp1319MetfsTer?) c.3892del (p.Asp1298MetfsTer?) c.3736del (p.Asp1246MetfsTer?) c.3667del (p.Asp1223MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164867C>A | CA363617430 | COL11A2 | n.654G>T c.4848G>T (p.Arg1616Ser) c.4527G>T (p.Arg1509Ser) c.4590G>T (p.Arg1530Ser) n.638G>T c.4002G>T (p.Arg1334Ser) c.4134G>T (p.Arg1378Ser) c.3954G>T (p.Arg1318Ser) c.3891G>T (p.Arg1297Ser) c.3735G>T (p.Arg1245Ser) c.3666G>T (p.Arg1222Ser) | gnomAD v4 |
6 | g.33164867C>G | CA363617428 | COL11A2 | n.654G>C c.4848G>C (p.Arg1616Ser) c.4527G>C (p.Arg1509Ser) c.4590G>C (p.Arg1530Ser) n.638G>C c.4002G>C (p.Arg1334Ser) c.4134G>C (p.Arg1378Ser) c.3954G>C (p.Arg1318Ser) c.3891G>C (p.Arg1297Ser) c.3735G>C (p.Arg1245Ser) c.3666G>C (p.Arg1222Ser) | |
6 | g.33164867C>T | CA449867248 | COL11A2 | n.654G>A c.4848G>A (p.Arg1616=) c.4527G>A (p.Arg1509=) c.4590G>A (p.Arg1530=) n.638G>A c.4002G>A (p.Arg1334=) c.4134G>A (p.Arg1378=) c.3954G>A (p.Arg1318=) c.3891G>A (p.Arg1297=) c.3735G>A (p.Arg1245=) c.3666G>A (p.Arg1222=) | |
6 | g.33164868C>A | CA363617432 | COL11A2 | n.653G>T c.4847G>T (p.Arg1616Met) c.4526G>T (p.Arg1509Met) c.4589G>T (p.Arg1530Met) n.637G>T c.4001G>T (p.Arg1334Met) c.4133G>T (p.Arg1378Met) c.3953G>T (p.Arg1318Met) c.3890G>T (p.Arg1297Met) c.3734G>T (p.Arg1245Met) c.3665G>T (p.Arg1222Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164868C= | CA1619890441 | COL11A2 | n.653G= c.4847G= (p.Arg1616=) c.4526G= (p.Arg1509=) c.4589G= (p.Arg1530=) n.637G= c.4001G= (p.Arg1334=) c.4133G= (p.Arg1378=) c.3953G= (p.Arg1318=) c.3890G= (p.Arg1297=) c.3734G= (p.Arg1245=) c.3665G= (p.Arg1222=) | |
6 | g.33164868C>G | CA363617436 | COL11A2 | n.653G>C c.4847G>C (p.Arg1616Thr) c.4526G>C (p.Arg1509Thr) c.4589G>C (p.Arg1530Thr) n.637G>C c.4001G>C (p.Arg1334Thr) c.4133G>C (p.Arg1378Thr) c.3953G>C (p.Arg1318Thr) c.3890G>C (p.Arg1297Thr) c.3734G>C (p.Arg1245Thr) c.3665G>C (p.Arg1222Thr) | |
6 | g.33164868C>T | CA363617434 | COL11A2 | n.653G>A c.4847G>A (p.Arg1616Lys) c.4526G>A (p.Arg1509Lys) c.4589G>A (p.Arg1530Lys) n.637G>A c.4001G>A (p.Arg1334Lys) c.4133G>A (p.Arg1378Lys) c.3953G>A (p.Arg1318Lys) c.3890G>A (p.Arg1297Lys) c.3734G>A (p.Arg1245Lys) c.3665G>A (p.Arg1222Lys) | ClinVar |
6 | g.33164869T>A | CA363617438 | COL11A2 | n.652A>T c.4846A>T (p.Arg1616Trp) c.4525A>T (p.Arg1509Trp) c.4588A>T (p.Arg1530Trp) n.636A>T c.4000A>T (p.Arg1334Trp) c.4132A>T (p.Arg1378Trp) c.3952A>T (p.Arg1318Trp) c.3889A>T (p.Arg1297Trp) c.3733A>T (p.Arg1245Trp) c.3664A>T (p.Arg1222Trp) | |
6 | g.33164869T>C | CA363617439 | COL11A2 | n.652A>G c.4846A>G (p.Arg1616Gly) c.4525A>G (p.Arg1509Gly) c.4588A>G (p.Arg1530Gly) n.636A>G c.4000A>G (p.Arg1334Gly) c.4132A>G (p.Arg1378Gly) c.3952A>G (p.Arg1318Gly) c.3889A>G (p.Arg1297Gly) c.3733A>G (p.Arg1245Gly) c.3664A>G (p.Arg1222Gly) | |
6 | g.33164869T>G | CA449867252 | COL11A2 | n.652A>C c.4846A>C (p.Arg1616=) c.4525A>C (p.Arg1509=) c.4588A>C (p.Arg1530=) n.636A>C c.4000A>C (p.Arg1334=) c.4132A>C (p.Arg1378=) c.3952A>C (p.Arg1318=) c.3889A>C (p.Arg1297=) c.3733A>C (p.Arg1245=) c.3664A>C (p.Arg1222=) | |
6 | g.33164870A>C | CA449867255 | COL11A2 | n.651T>G c.4845T>G (p.Pro1615=) c.4524T>G (p.Pro1508=) c.4587T>G (p.Pro1529=) n.635T>G c.3999T>G (p.Pro1333=) c.4131T>G (p.Pro1377=) c.3951T>G (p.Pro1317=) c.3888T>G (p.Pro1296=) c.3732T>G (p.Pro1244=) c.3663T>G (p.Pro1221=) | |
6 | g.33164870A>G | CA449867256 | COL11A2 | n.651T>C c.4845T>C (p.Pro1615=) c.4524T>C (p.Pro1508=) c.4587T>C (p.Pro1529=) n.635T>C c.3999T>C (p.Pro1333=) c.4131T>C (p.Pro1377=) c.3951T>C (p.Pro1317=) c.3888T>C (p.Pro1296=) c.3732T>C (p.Pro1244=) c.3663T>C (p.Pro1221=) | gnomAD v4 |
6 | g.33164870A>T | CA449867257 | COL11A2 | n.651T>A c.4845T>A (p.Pro1615=) c.4524T>A (p.Pro1508=) c.4587T>A (p.Pro1529=) n.635T>A c.3999T>A (p.Pro1333=) c.4131T>A (p.Pro1377=) c.3951T>A (p.Pro1317=) c.3888T>A (p.Pro1296=) c.3732T>A (p.Pro1244=) c.3663T>A (p.Pro1221=) | |
6 | g.33164871G>A | CA363617442 | COL11A2 | n.650C>T c.4844C>T (p.Pro1615Leu) c.4523C>T (p.Pro1508Leu) c.4586C>T (p.Pro1529Leu) n.634C>T c.3998C>T (p.Pro1333Leu) c.4130C>T (p.Pro1377Leu) c.3950C>T (p.Pro1317Leu) c.3887C>T (p.Pro1296Leu) c.3731C>T (p.Pro1244Leu) c.3662C>T (p.Pro1221Leu) | |
6 | g.33164871G>C | CA363617445 | COL11A2 | n.650C>G c.4844C>G (p.Pro1615Arg) c.4523C>G (p.Pro1508Arg) c.4586C>G (p.Pro1529Arg) n.634C>G c.3998C>G (p.Pro1333Arg) c.4130C>G (p.Pro1377Arg) c.3950C>G (p.Pro1317Arg) c.3887C>G (p.Pro1296Arg) c.3731C>G (p.Pro1244Arg) c.3662C>G (p.Pro1221Arg) | |
6 | g.33164871G>T | CA363617444 | COL11A2 | n.650C>A c.4844C>A (p.Pro1615His) c.4523C>A (p.Pro1508His) c.4586C>A (p.Pro1529His) n.634C>A c.3998C>A (p.Pro1333His) c.4130C>A (p.Pro1377His) c.3950C>A (p.Pro1317His) c.3887C>A (p.Pro1296His) c.3731C>A (p.Pro1244His) c.3662C>A (p.Pro1221His) | gnomAD v4 |
6 | g.33164872del | CA2678226910 | COL11A2 | n.650del c.4844del (p.Pro1615LeufsTer?) c.4523del (p.Pro1508LeufsTer?) c.4586del (p.Pro1529LeufsTer?) n.634del c.3998del (p.Pro1333LeufsTer?) c.4130del (p.Pro1377LeufsTer?) c.3950del (p.Pro1317LeufsTer?) c.3887del (p.Pro1296LeufsTer?) c.3731del (p.Pro1244LeufsTer?) c.3662del (p.Pro1221LeufsTer?) | gnomAD v4 |
6 | g.33164872G>A | CA363617448 | COL11A2 | n.649C>T c.4843C>T (p.Pro1615Ser) c.4522C>T (p.Pro1508Ser) c.4585C>T (p.Pro1529Ser) n.633C>T c.3997C>T (p.Pro1333Ser) c.4129C>T (p.Pro1377Ser) c.3949C>T (p.Pro1317Ser) c.3886C>T (p.Pro1296Ser) c.3730C>T (p.Pro1244Ser) c.3661C>T (p.Pro1221Ser) | ClinVar gnomAD v4 |
6 | g.33164872G>C | CA363617450 | COL11A2 | n.649C>G c.4843C>G (p.Pro1615Ala) c.4522C>G (p.Pro1508Ala) c.4585C>G (p.Pro1529Ala) n.633C>G c.3997C>G (p.Pro1333Ala) c.4129C>G (p.Pro1377Ala) c.3949C>G (p.Pro1317Ala) c.3886C>G (p.Pro1296Ala) c.3730C>G (p.Pro1244Ala) c.3661C>G (p.Pro1221Ala) | |
6 | g.33164872G>T | CA363617451 | COL11A2 | n.649C>A c.4843C>A (p.Pro1615Thr) c.4522C>A (p.Pro1508Thr) c.4585C>A (p.Pro1529Thr) n.633C>A c.3997C>A (p.Pro1333Thr) c.4129C>A (p.Pro1377Thr) c.3949C>A (p.Pro1317Thr) c.3886C>A (p.Pro1296Thr) c.3730C>A (p.Pro1244Thr) c.3661C>A (p.Pro1221Thr) | gnomAD v4 |
6 | g.33164874_33164896del | CA658795171 | COL11A2 | n.627_649del c.4821_4843del (p.Gly1608Ter) c.4500_4522del (p.Gly1501Ter) c.4563_4585del (p.Gly1522Ter) n.611_633del c.3975_3997del (p.Gly1326Ter) c.4107_4129del (p.Gly1370Ter) c.3927_3949del (p.Gly1310Ter) c.3864_3886del (p.Gly1289Ter) c.3708_3730del (p.Gly1237Ter) c.3639_3661del (p.Gly1214Ter) | |
6 | g.33164872_33164873insGATGA | CA2770563346 | COL11A2 | n.648_649insTCATC c.4842_4843insTCATC (p.Pro1615SerfsTer?) c.4521_4522insTCATC (p.Pro1508SerfsTer?) c.4584_4585insTCATC (p.Pro1529SerfsTer?) n.632_633insTCATC c.3996_3997insTCATC (p.Pro1333SerfsTer?) c.4128_4129insTCATC (p.Pro1377SerfsTer?) c.3948_3949insTCATC (p.Pro1317SerfsTer?) c.3885_3886insTCATC (p.Pro1296SerfsTer?) c.3729_3730insTCATC (p.Pro1244SerfsTer?) c.3660_3661insTCATC (p.Pro1221SerfsTer?) | |
6 | g.33164873C>A | CA449867261 | COL11A2 | n.648G>T c.4842G>T (p.Thr1614=) c.4521G>T (p.Thr1507=) c.4584G>T (p.Thr1528=) n.632G>T c.3996G>T (p.Thr1332=) c.4128G>T (p.Thr1376=) c.3948G>T (p.Thr1316=) c.3885G>T (p.Thr1295=) c.3729G>T (p.Thr1243=) c.3660G>T (p.Thr1220=) | gnomAD v4 |
6 | g.33164873C= | CA1619890444 | COL11A2 | n.648G= c.4842G= (p.Thr1614=) c.4521G= (p.Thr1507=) c.4584G= (p.Thr1528=) n.632G= c.3996G= (p.Thr1332=) c.4128G= (p.Thr1376=) c.3948G= (p.Thr1316=) c.3885G= (p.Thr1295=) c.3729G= (p.Thr1243=) c.3660G= (p.Thr1220=) | |
6 | g.33164873C>G | CA449867263 | COL11A2 | n.648G>C c.4842G>C (p.Thr1614=) c.4521G>C (p.Thr1507=) c.4584G>C (p.Thr1528=) n.632G>C c.3996G>C (p.Thr1332=) c.4128G>C (p.Thr1376=) c.3948G>C (p.Thr1316=) c.3885G>C (p.Thr1295=) c.3729G>C (p.Thr1243=) c.3660G>C (p.Thr1220=) | |
6 | g.33164873C>T | CA449867265 | COL11A2 | n.648G>A c.4842G>A (p.Thr1614=) c.4521G>A (p.Thr1507=) c.4584G>A (p.Thr1528=) n.632G>A c.3996G>A (p.Thr1332=) c.4128G>A (p.Thr1376=) c.3948G>A (p.Thr1316=) c.3885G>A (p.Thr1295=) c.3729G>A (p.Thr1243=) c.3660G>A (p.Thr1220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164874G>A | CA363617452 | COL11A2 | n.647C>T c.4841C>T (p.Thr1614Met) c.4520C>T (p.Thr1507Met) c.4583C>T (p.Thr1528Met) n.631C>T c.3995C>T (p.Thr1332Met) c.4127C>T (p.Thr1376Met) c.3947C>T (p.Thr1316Met) c.3884C>T (p.Thr1295Met) c.3728C>T (p.Thr1243Met) c.3659C>T (p.Thr1220Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164874G>C | CA363617453 | COL11A2 | n.647C>G c.4841C>G (p.Thr1614Arg) c.4520C>G (p.Thr1507Arg) c.4583C>G (p.Thr1528Arg) n.631C>G c.3995C>G (p.Thr1332Arg) c.4127C>G (p.Thr1376Arg) c.3947C>G (p.Thr1316Arg) c.3884C>G (p.Thr1295Arg) c.3728C>G (p.Thr1243Arg) c.3659C>G (p.Thr1220Arg) | |
6 | g.33164874G= | CA1619890449 | COL11A2 | n.647C= c.4841C= (p.Thr1614=) c.4520C= (p.Thr1507=) c.4583C= (p.Thr1528=) n.631C= c.3995C= (p.Thr1332=) c.4127C= (p.Thr1376=) c.3947C= (p.Thr1316=) c.3884C= (p.Thr1295=) c.3728C= (p.Thr1243=) c.3659C= (p.Thr1220=) | |
6 | g.33164874G>T | CA363617454 | COL11A2 | n.647C>A c.4841C>A (p.Thr1614Lys) c.4520C>A (p.Thr1507Lys) c.4583C>A (p.Thr1528Lys) n.631C>A c.3995C>A (p.Thr1332Lys) c.4127C>A (p.Thr1376Lys) c.3947C>A (p.Thr1316Lys) c.3884C>A (p.Thr1295Lys) c.3728C>A (p.Thr1243Lys) c.3659C>A (p.Thr1220Lys) | gnomAD v4 |
6 | g.33164875T>A | CA363617455 | COL11A2 | n.646A>T c.4840A>T (p.Thr1614Ser) c.4519A>T (p.Thr1507Ser) c.4582A>T (p.Thr1528Ser) n.630A>T c.3994A>T (p.Thr1332Ser) c.4126A>T (p.Thr1376Ser) c.3946A>T (p.Thr1316Ser) c.3883A>T (p.Thr1295Ser) c.3727A>T (p.Thr1243Ser) c.3658A>T (p.Thr1220Ser) | |
6 | g.33164875T>C | CA363617456 | COL11A2 | n.646A>G c.4840A>G (p.Thr1614Ala) c.4519A>G (p.Thr1507Ala) c.4582A>G (p.Thr1528Ala) n.630A>G c.3994A>G (p.Thr1332Ala) c.4126A>G (p.Thr1376Ala) c.3946A>G (p.Thr1316Ala) c.3883A>G (p.Thr1295Ala) c.3727A>G (p.Thr1243Ala) c.3658A>G (p.Thr1220Ala) | gnomAD v4 |
6 | g.33164875T>G | CA3749990 | COL11A2 | n.646A>C c.4840A>C (p.Thr1614Pro) c.4519A>C (p.Thr1507Pro) c.4582A>C (p.Thr1528Pro) n.630A>C c.3994A>C (p.Thr1332Pro) c.4126A>C (p.Thr1376Pro) c.3946A>C (p.Thr1316Pro) c.3883A>C (p.Thr1295Pro) c.3727A>C (p.Thr1243Pro) c.3658A>C (p.Thr1220Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164875T= | CA1619890454 | COL11A2 | n.646A= c.4840A= (p.Thr1614=) c.4519A= (p.Thr1507=) c.4582A= (p.Thr1528=) n.630A= c.3994A= (p.Thr1332=) c.4126A= (p.Thr1376=) c.3946A= (p.Thr1316=) c.3883A= (p.Thr1295=) c.3727A= (p.Thr1243=) c.3658A= (p.Thr1220=) | |
6 | g.33164876C>A | CA449867267 | COL11A2 | n.645G>T c.4839G>T (p.Val1613=) c.4518G>T (p.Val1506=) c.4581G>T (p.Val1527=) n.629G>T c.3993G>T (p.Val1331=) c.4125G>T (p.Val1375=) c.3945G>T (p.Val1315=) c.3882G>T (p.Val1294=) c.3726G>T (p.Val1242=) c.3657G>T (p.Val1219=) | gnomAD v4 |
6 | g.33164876C>G | CA449867268 | COL11A2 | n.645G>C c.4839G>C (p.Val1613=) c.4518G>C (p.Val1506=) c.4581G>C (p.Val1527=) n.629G>C c.3993G>C (p.Val1331=) c.4125G>C (p.Val1375=) c.3945G>C (p.Val1315=) c.3882G>C (p.Val1294=) c.3726G>C (p.Val1242=) c.3657G>C (p.Val1219=) | |
6 | g.33164876C>T | CA449867269 | COL11A2 | n.645G>A c.4839G>A (p.Val1613=) c.4518G>A (p.Val1506=) c.4581G>A (p.Val1527=) n.629G>A c.3993G>A (p.Val1331=) c.4125G>A (p.Val1375=) c.3945G>A (p.Val1315=) c.3882G>A (p.Val1294=) c.3726G>A (p.Val1242=) c.3657G>A (p.Val1219=) | |
6 | g.33164880_33164881del | CA2678226911 | COL11A2 | n.644_645del c.4838_4839del (p.Val1613AspfsTer3) c.4517_4518del (p.Val1506AspfsTer3) c.4580_4581del (p.Val1527AspfsTer3) n.628_629del c.3992_3993del (p.Val1331AspfsTer3) c.4124_4125del (p.Val1375AspfsTer3) c.3944_3945del (p.Val1315AspfsTer3) c.3881_3882del (p.Val1294AspfsTer3) c.3725_3726del (p.Val1242AspfsTer3) c.3656_3657del (p.Val1219AspfsTer3) | gnomAD v4 |
6 | g.33164877A>C | CA363617457 | COL11A2 | n.644T>G c.4838T>G (p.Val1613Gly) c.4517T>G (p.Val1506Gly) c.4580T>G (p.Val1527Gly) n.628T>G c.3992T>G (p.Val1331Gly) c.4124T>G (p.Val1375Gly) c.3944T>G (p.Val1315Gly) c.3881T>G (p.Val1294Gly) c.3725T>G (p.Val1242Gly) c.3656T>G (p.Val1219Gly) | |
6 | g.33164877A>G | CA363617458 | COL11A2 | n.644T>C c.4838T>C (p.Val1613Ala) c.4517T>C (p.Val1506Ala) c.4580T>C (p.Val1527Ala) n.628T>C c.3992T>C (p.Val1331Ala) c.4124T>C (p.Val1375Ala) c.3944T>C (p.Val1315Ala) c.3881T>C (p.Val1294Ala) c.3725T>C (p.Val1242Ala) c.3656T>C (p.Val1219Ala) | |
6 | g.33164877A>T | CA363617459 | COL11A2 | n.644T>A c.4838T>A (p.Val1613Glu) c.4517T>A (p.Val1506Glu) c.4580T>A (p.Val1527Glu) n.628T>A c.3992T>A (p.Val1331Glu) c.4124T>A (p.Val1375Glu) c.3944T>A (p.Val1315Glu) c.3881T>A (p.Val1294Glu) c.3725T>A (p.Val1242Glu) c.3656T>A (p.Val1219Glu) | |
6 | g.33164878C>A | CA363617460 | COL11A2 | n.643G>T c.4837G>T (p.Val1613Leu) c.4516G>T (p.Val1506Leu) c.4579G>T (p.Val1527Leu) n.627G>T c.3991G>T (p.Val1331Leu) c.4123G>T (p.Val1375Leu) c.3943G>T (p.Val1315Leu) c.3880G>T (p.Val1294Leu) c.3724G>T (p.Val1242Leu) c.3655G>T (p.Val1219Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.33164878C= | CA1619890459 | COL11A2 | n.643G= c.4837G= (p.Val1613=) c.4516G= (p.Val1506=) c.4579G= (p.Val1527=) n.627G= c.3991G= (p.Val1331=) c.4123G= (p.Val1375=) c.3943G= (p.Val1315=) c.3880G= (p.Val1294=) c.3724G= (p.Val1242=) c.3655G= (p.Val1219=) | |
6 | g.33164878C>G | CA363617462 | COL11A2 | n.643G>C c.4837G>C (p.Val1613Leu) c.4516G>C (p.Val1506Leu) c.4579G>C (p.Val1527Leu) n.627G>C c.3991G>C (p.Val1331Leu) c.4123G>C (p.Val1375Leu) c.3943G>C (p.Val1315Leu) c.3880G>C (p.Val1294Leu) c.3724G>C (p.Val1242Leu) c.3655G>C (p.Val1219Leu) | |
6 | g.33164878C>T | CA363617461 | COL11A2 | n.643G>A c.4837G>A (p.Val1613Met) c.4516G>A (p.Val1506Met) c.4579G>A (p.Val1527Met) n.627G>A c.3991G>A (p.Val1331Met) c.4123G>A (p.Val1375Met) c.3943G>A (p.Val1315Met) c.3880G>A (p.Val1294Met) c.3724G>A (p.Val1242Met) c.3655G>A (p.Val1219Met) | gnomAD v4 |
6 | g.33164879A>C | CA363617464 | COL11A2 | n.642T>G c.4836T>G (p.Cys1612Trp) c.4515T>G (p.Cys1505Trp) c.4578T>G (p.Cys1526Trp) n.626T>G c.3990T>G (p.Cys1330Trp) c.4122T>G (p.Cys1374Trp) c.3942T>G (p.Cys1314Trp) c.3879T>G (p.Cys1293Trp) c.3723T>G (p.Cys1241Trp) c.3654T>G (p.Cys1218Trp) | |
6 | g.33164879A>G | CA449867272 | COL11A2 | n.642T>C c.4836T>C (p.Cys1612=) c.4515T>C (p.Cys1505=) c.4578T>C (p.Cys1526=) n.626T>C c.3990T>C (p.Cys1330=) c.4122T>C (p.Cys1374=) c.3942T>C (p.Cys1314=) c.3879T>C (p.Cys1293=) c.3723T>C (p.Cys1241=) c.3654T>C (p.Cys1218=) | gnomAD v4 |
6 | g.33164879A>T | CA363617466 | COL11A2 | n.642T>A c.4836T>A (p.Cys1612Ter) c.4515T>A (p.Cys1505Ter) c.4578T>A (p.Cys1526Ter) n.626T>A c.3990T>A (p.Cys1330Ter) c.4122T>A (p.Cys1374Ter) c.3942T>A (p.Cys1314Ter) c.3879T>A (p.Cys1293Ter) c.3723T>A (p.Cys1241Ter) c.3654T>A (p.Cys1218Ter) | gnomAD v4 |
6 | g.33164880C>A | CA363617468 | COL11A2 | n.641G>T c.4835G>T (p.Cys1612Phe) c.4514G>T (p.Cys1505Phe) c.4577G>T (p.Cys1526Phe) n.625G>T c.3989G>T (p.Cys1330Phe) c.4121G>T (p.Cys1374Phe) c.3941G>T (p.Cys1314Phe) c.3878G>T (p.Cys1293Phe) c.3722G>T (p.Cys1241Phe) c.3653G>T (p.Cys1218Phe) | gnomAD v4 |
6 | g.33164880C= | CA1619890464 | COL11A2 | n.641G= c.4835G= (p.Cys1612=) c.4514G= (p.Cys1505=) c.4577G= (p.Cys1526=) n.625G= c.3989G= (p.Cys1330=) c.4121G= (p.Cys1374=) c.3941G= (p.Cys1314=) c.3878G= (p.Cys1293=) c.3722G= (p.Cys1241=) c.3653G= (p.Cys1218=) | |
6 | g.33164880C>G | CA363617470 | COL11A2 | n.641G>C c.4835G>C (p.Cys1612Ser) c.4514G>C (p.Cys1505Ser) c.4577G>C (p.Cys1526Ser) n.625G>C c.3989G>C (p.Cys1330Ser) c.4121G>C (p.Cys1374Ser) c.3941G>C (p.Cys1314Ser) c.3878G>C (p.Cys1293Ser) c.3722G>C (p.Cys1241Ser) c.3653G>C (p.Cys1218Ser) | |
6 | g.33164880C>T | CA363617472 | COL11A2 | n.641G>A c.4835G>A (p.Cys1612Tyr) c.4514G>A (p.Cys1505Tyr) c.4577G>A (p.Cys1526Tyr) n.625G>A c.3989G>A (p.Cys1330Tyr) c.4121G>A (p.Cys1374Tyr) c.3941G>A (p.Cys1314Tyr) c.3878G>A (p.Cys1293Tyr) c.3722G>A (p.Cys1241Tyr) c.3653G>A (p.Cys1218Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164881A>C | CA363617474 | COL11A2 | n.640T>G c.4834T>G (p.Cys1612Gly) c.4513T>G (p.Cys1505Gly) c.4576T>G (p.Cys1526Gly) n.624T>G c.3988T>G (p.Cys1330Gly) c.4120T>G (p.Cys1374Gly) c.3940T>G (p.Cys1314Gly) c.3877T>G (p.Cys1293Gly) c.3721T>G (p.Cys1241Gly) c.3652T>G (p.Cys1218Gly) | gnomAD v4 |
6 | g.33164881A>G | CA363617476 | COL11A2 | n.640T>C c.4834T>C (p.Cys1612Arg) c.4513T>C (p.Cys1505Arg) c.4576T>C (p.Cys1526Arg) n.624T>C c.3988T>C (p.Cys1330Arg) c.4120T>C (p.Cys1374Arg) c.3940T>C (p.Cys1314Arg) c.3877T>C (p.Cys1293Arg) c.3721T>C (p.Cys1241Arg) c.3652T>C (p.Cys1218Arg) | gnomAD v4 COSMIC |
6 | g.33164881A>T | CA363617478 | COL11A2 | n.640T>A c.4834T>A (p.Cys1612Ser) c.4513T>A (p.Cys1505Ser) c.4576T>A (p.Cys1526Ser) n.624T>A c.3988T>A (p.Cys1330Ser) c.4120T>A (p.Cys1374Ser) c.3940T>A (p.Cys1314Ser) c.3877T>A (p.Cys1293Ser) c.3721T>A (p.Cys1241Ser) c.3652T>A (p.Cys1218Ser) | gnomAD v4 |
6 | g.33164882G>A | CA449867278 | COL11A2 | n.639C>T c.4833C>T (p.Thr1611=) c.4512C>T (p.Thr1504=) c.4575C>T (p.Thr1525=) n.623C>T c.3987C>T (p.Thr1329=) c.4119C>T (p.Thr1373=) c.3939C>T (p.Thr1313=) c.3876C>T (p.Thr1292=) c.3720C>T (p.Thr1240=) c.3651C>T (p.Thr1217=) | ClinVar gnomAD v4 |
6 | g.33164882G>C | CA449867277 | COL11A2 | n.639C>G c.4833C>G (p.Thr1611=) c.4512C>G (p.Thr1504=) c.4575C>G (p.Thr1525=) n.623C>G c.3987C>G (p.Thr1329=) c.4119C>G (p.Thr1373=) c.3939C>G (p.Thr1313=) c.3876C>G (p.Thr1292=) c.3720C>G (p.Thr1240=) c.3651C>G (p.Thr1217=) | |
6 | g.33164882G= | CA1619890467 | COL11A2 | n.639C= c.4833C= (p.Thr1611=) c.4512C= (p.Thr1504=) c.4575C= (p.Thr1525=) n.623C= c.3987C= (p.Thr1329=) c.4119C= (p.Thr1373=) c.3939C= (p.Thr1313=) c.3876C= (p.Thr1292=) c.3720C= (p.Thr1240=) c.3651C= (p.Thr1217=) | |
6 | g.33164882G>T | CA3749991 | COL11A2 | n.639C>A c.4833C>A (p.Thr1611=) c.4512C>A (p.Thr1504=) c.4575C>A (p.Thr1525=) n.623C>A c.3987C>A (p.Thr1329=) c.4119C>A (p.Thr1373=) c.3939C>A (p.Thr1313=) c.3876C>A (p.Thr1292=) c.3720C>A (p.Thr1240=) c.3651C>A (p.Thr1217=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164883G>A | CA363617486 | COL11A2 | n.638C>T c.4832C>T (p.Thr1611Ile) c.4511C>T (p.Thr1504Ile) c.4574C>T (p.Thr1525Ile) n.622C>T c.3986C>T (p.Thr1329Ile) c.4118C>T (p.Thr1373Ile) c.3938C>T (p.Thr1313Ile) c.3875C>T (p.Thr1292Ile) c.3719C>T (p.Thr1240Ile) c.3650C>T (p.Thr1217Ile) | |
6 | g.33164883G>C | CA363617484 | COL11A2 | n.638C>G c.4832C>G (p.Thr1611Ser) c.4511C>G (p.Thr1504Ser) c.4574C>G (p.Thr1525Ser) n.622C>G c.3986C>G (p.Thr1329Ser) c.4118C>G (p.Thr1373Ser) c.3938C>G (p.Thr1313Ser) c.3875C>G (p.Thr1292Ser) c.3719C>G (p.Thr1240Ser) c.3650C>G (p.Thr1217Ser) | |
6 | g.33164883G= | CA1619890470 | COL11A2 | n.638C= c.4832C= (p.Thr1611=) c.4511C= (p.Thr1504=) c.4574C= (p.Thr1525=) n.622C= c.3986C= (p.Thr1329=) c.4118C= (p.Thr1373=) c.3938C= (p.Thr1313=) c.3875C= (p.Thr1292=) c.3719C= (p.Thr1240=) c.3650C= (p.Thr1217=) | |
6 | g.33164883G>T | CA363617482 | COL11A2 | n.638C>A c.4832C>A (p.Thr1611Asn) c.4511C>A (p.Thr1504Asn) c.4574C>A (p.Thr1525Asn) n.622C>A c.3986C>A (p.Thr1329Asn) c.4118C>A (p.Thr1373Asn) c.3938C>A (p.Thr1313Asn) c.3875C>A (p.Thr1292Asn) c.3719C>A (p.Thr1240Asn) c.3650C>A (p.Thr1217Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164884T>A | CA363617488 | COL11A2 | n.637A>T c.4831A>T (p.Thr1611Ser) c.4510A>T (p.Thr1504Ser) c.4573A>T (p.Thr1525Ser) n.621A>T c.3985A>T (p.Thr1329Ser) c.4117A>T (p.Thr1373Ser) c.3937A>T (p.Thr1313Ser) c.3874A>T (p.Thr1292Ser) c.3718A>T (p.Thr1240Ser) c.3649A>T (p.Thr1217Ser) | ClinVar dbSNP gnomAD v4 |
6 | g.33164884T>C | CA363617490 | COL11A2 | n.637A>G c.4831A>G (p.Thr1611Ala) c.4510A>G (p.Thr1504Ala) c.4573A>G (p.Thr1525Ala) n.621A>G c.3985A>G (p.Thr1329Ala) c.4117A>G (p.Thr1373Ala) c.3937A>G (p.Thr1313Ala) c.3874A>G (p.Thr1292Ala) c.3718A>G (p.Thr1240Ala) c.3649A>G (p.Thr1217Ala) | gnomAD v4 |
6 | g.33164884T>G | CA363617492 | COL11A2 | n.637A>C c.4831A>C (p.Thr1611Pro) c.4510A>C (p.Thr1504Pro) c.4573A>C (p.Thr1525Pro) n.621A>C c.3985A>C (p.Thr1329Pro) c.4117A>C (p.Thr1373Pro) c.3937A>C (p.Thr1313Pro) c.3874A>C (p.Thr1292Pro) c.3718A>C (p.Thr1240Pro) c.3649A>C (p.Thr1217Pro) | |
6 | g.33164885C>A | CA363617494 | COL11A2 | n.636G>T c.4830G>T (p.Glu1610Asp) c.4509G>T (p.Glu1503Asp) c.4572G>T (p.Glu1524Asp) n.620G>T c.3984G>T (p.Glu1328Asp) c.4116G>T (p.Glu1372Asp) c.3936G>T (p.Glu1312Asp) c.3873G>T (p.Glu1291Asp) c.3717G>T (p.Glu1239Asp) c.3648G>T (p.Glu1216Asp) | gnomAD v4 |
6 | g.33164885C= | CA1619890473 | COL11A2 | n.636G= c.4830G= (p.Glu1610=) c.4509G= (p.Glu1503=) c.4572G= (p.Glu1524=) n.620G= c.3984G= (p.Glu1328=) c.4116G= (p.Glu1372=) c.3936G= (p.Glu1312=) c.3873G= (p.Glu1291=) c.3717G= (p.Glu1239=) c.3648G= (p.Glu1216=) | |
6 | g.33164885C>G | CA363617496 | COL11A2 | n.636G>C c.4830G>C (p.Glu1610Asp) c.4509G>C (p.Glu1503Asp) c.4572G>C (p.Glu1524Asp) n.620G>C c.3984G>C (p.Glu1328Asp) c.4116G>C (p.Glu1372Asp) c.3936G>C (p.Glu1312Asp) c.3873G>C (p.Glu1291Asp) c.3717G>C (p.Glu1239Asp) c.3648G>C (p.Glu1216Asp) | dbSNP |
6 | g.33164885C>T | CA449867283 | COL11A2 | n.636G>A c.4830G>A (p.Glu1610=) c.4509G>A (p.Glu1503=) c.4572G>A (p.Glu1524=) n.620G>A c.3984G>A (p.Glu1328=) c.4116G>A (p.Glu1372=) c.3936G>A (p.Glu1312=) c.3873G>A (p.Glu1291=) c.3717G>A (p.Glu1239=) c.3648G>A (p.Glu1216=) | dbSNP gnomAD v2 |
6 | g.33164886T>A | CA363617498 | COL11A2 | n.635A>T c.4829A>T (p.Glu1610Val) c.4508A>T (p.Glu1503Val) c.4571A>T (p.Glu1524Val) n.619A>T c.3983A>T (p.Glu1328Val) c.4115A>T (p.Glu1372Val) c.3935A>T (p.Glu1312Val) c.3872A>T (p.Glu1291Val) c.3716A>T (p.Glu1239Val) c.3647A>T (p.Glu1216Val) | gnomAD v4 |
6 | g.33164886T>C | CA363617500 | COL11A2 | n.635A>G c.4829A>G (p.Glu1610Gly) c.4508A>G (p.Glu1503Gly) c.4571A>G (p.Glu1524Gly) n.619A>G c.3983A>G (p.Glu1328Gly) c.4115A>G (p.Glu1372Gly) c.3935A>G (p.Glu1312Gly) c.3872A>G (p.Glu1291Gly) c.3716A>G (p.Glu1239Gly) c.3647A>G (p.Glu1216Gly) | |
6 | g.33164886T>G | CA363617502 | COL11A2 | n.635A>C c.4829A>C (p.Glu1610Ala) c.4508A>C (p.Glu1503Ala) c.4571A>C (p.Glu1524Ala) n.619A>C c.3983A>C (p.Glu1328Ala) c.4115A>C (p.Glu1372Ala) c.3935A>C (p.Glu1312Ala) c.3872A>C (p.Glu1291Ala) c.3716A>C (p.Glu1239Ala) c.3647A>C (p.Glu1216Ala) | |
6 | g.33164887C>A | CA363617506 | COL11A2 | n.634G>T c.4828G>T (p.Glu1610Ter) c.4507G>T (p.Glu1503Ter) c.4570G>T (p.Glu1524Ter) n.618G>T c.3982G>T (p.Glu1328Ter) c.4114G>T (p.Glu1372Ter) c.3934G>T (p.Glu1312Ter) c.3871G>T (p.Glu1291Ter) c.3715G>T (p.Glu1239Ter) c.3646G>T (p.Glu1216Ter) | gnomAD v4 |
6 | g.33164887C>G | CA363617507 | COL11A2 | n.634G>C c.4828G>C (p.Glu1610Gln) c.4507G>C (p.Glu1503Gln) c.4570G>C (p.Glu1524Gln) n.618G>C c.3982G>C (p.Glu1328Gln) c.4114G>C (p.Glu1372Gln) c.3934G>C (p.Glu1312Gln) c.3871G>C (p.Glu1291Gln) c.3715G>C (p.Glu1239Gln) c.3646G>C (p.Glu1216Gln) | |
6 | g.33164887C>T | CA363617510 | COL11A2 | n.634G>A c.4828G>A (p.Glu1610Lys) c.4507G>A (p.Glu1503Lys) c.4570G>A (p.Glu1524Lys) n.618G>A c.3982G>A (p.Glu1328Lys) c.4114G>A (p.Glu1372Lys) c.3934G>A (p.Glu1312Lys) c.3871G>A (p.Glu1291Lys) c.3715G>A (p.Glu1239Lys) c.3646G>A (p.Glu1216Lys) | gnomAD v4 |
6 | g.33164888A= | CA1619890477 | COL11A2 | n.633T= c.4827T= (p.Gly1609=) c.4506T= (p.Gly1502=) c.4569T= (p.Gly1523=) n.617T= c.3981T= (p.Gly1327=) c.4113T= (p.Gly1371=) c.3933T= (p.Gly1311=) c.3870T= (p.Gly1290=) c.3714T= (p.Gly1238=) c.3645T= (p.Gly1215=) | |
6 | g.33164888A>C | CA449867284 | COL11A2 | n.633T>G c.4827T>G (p.Gly1609=) c.4506T>G (p.Gly1502=) c.4569T>G (p.Gly1523=) n.617T>G c.3981T>G (p.Gly1327=) c.4113T>G (p.Gly1371=) c.3933T>G (p.Gly1311=) c.3870T>G (p.Gly1290=) c.3714T>G (p.Gly1238=) c.3645T>G (p.Gly1215=) | |
6 | g.33164888A>G | CA449867285 | COL11A2 | n.633T>C c.4827T>C (p.Gly1609=) c.4506T>C (p.Gly1502=) c.4569T>C (p.Gly1523=) n.617T>C c.3981T>C (p.Gly1327=) c.4113T>C (p.Gly1371=) c.3933T>C (p.Gly1311=) c.3870T>C (p.Gly1290=) c.3714T>C (p.Gly1238=) c.3645T>C (p.Gly1215=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164888A>T | CA449867286 | COL11A2 | n.633T>A c.4827T>A (p.Gly1609=) c.4506T>A (p.Gly1502=) c.4569T>A (p.Gly1523=) n.617T>A c.3981T>A (p.Gly1327=) c.4113T>A (p.Gly1371=) c.3933T>A (p.Gly1311=) c.3870T>A (p.Gly1290=) c.3714T>A (p.Gly1238=) c.3645T>A (p.Gly1215=) | |
6 | g.33164888dup | CA2711428177 | COL11A2 | n.633dup c.4827dup (p.Glu1610Ter) c.4506dup (p.Glu1503Ter) c.4569dup (p.Glu1524Ter) n.617dup c.3981dup (p.Glu1328Ter) c.4113dup (p.Glu1372Ter) c.3933dup (p.Glu1312Ter) c.3870dup (p.Glu1291Ter) c.3714dup (p.Glu1239Ter) c.3645dup (p.Glu1216Ter) | dbSNP |
6 | g.33164889C>A | CA363617515 | COL11A2 | n.632G>T c.4826G>T (p.Gly1609Val) c.4505G>T (p.Gly1502Val) c.4568G>T (p.Gly1523Val) n.616G>T c.3980G>T (p.Gly1327Val) c.4112G>T (p.Gly1371Val) c.3932G>T (p.Gly1311Val) c.3869G>T (p.Gly1290Val) c.3713G>T (p.Gly1238Val) c.3644G>T (p.Gly1215Val) | gnomAD v4 |
6 | g.33164889C= | CA1619890482 | COL11A2 | n.632G= c.4826G= (p.Gly1609=) c.4505G= (p.Gly1502=) c.4568G= (p.Gly1523=) n.616G= c.3980G= (p.Gly1327=) c.4112G= (p.Gly1371=) c.3932G= (p.Gly1311=) c.3869G= (p.Gly1290=) c.3713G= (p.Gly1238=) c.3644G= (p.Gly1215=) | |
6 | g.33164889C>G | CA363617512 | COL11A2 | n.632G>C c.4826G>C (p.Gly1609Ala) c.4505G>C (p.Gly1502Ala) c.4568G>C (p.Gly1523Ala) n.616G>C c.3980G>C (p.Gly1327Ala) c.4112G>C (p.Gly1371Ala) c.3932G>C (p.Gly1311Ala) c.3869G>C (p.Gly1290Ala) c.3713G>C (p.Gly1238Ala) c.3644G>C (p.Gly1215Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164889C>T | CA3749992 | COL11A2 | n.632G>A c.4826G>A (p.Gly1609Asp) c.4505G>A (p.Gly1502Asp) c.4568G>A (p.Gly1523Asp) n.616G>A c.3980G>A (p.Gly1327Asp) c.4112G>A (p.Gly1371Asp) c.3932G>A (p.Gly1311Asp) c.3869G>A (p.Gly1290Asp) c.3713G>A (p.Gly1238Asp) c.3644G>A (p.Gly1215Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164893del | CA2678226912 | COL11A2 | n.632del c.4826del (p.Gly1609ValfsTer5) c.4505del (p.Gly1502ValfsTer5) c.4568del (p.Gly1523ValfsTer5) n.616del c.3980del (p.Gly1327ValfsTer5) c.4112del (p.Gly1371ValfsTer5) c.3932del (p.Gly1311ValfsTer5) c.3869del (p.Gly1290ValfsTer5) c.3713del (p.Gly1238ValfsTer5) c.3644del (p.Gly1215ValfsTer5) | gnomAD v4 |
6 | g.33164890C>A | CA363617517 | COL11A2 | n.631G>T c.4825G>T (p.Gly1609Cys) c.4504G>T (p.Gly1502Cys) c.4567G>T (p.Gly1523Cys) n.615G>T c.3979G>T (p.Gly1327Cys) c.4111G>T (p.Gly1371Cys) c.3931G>T (p.Gly1311Cys) c.3868G>T (p.Gly1290Cys) c.3712G>T (p.Gly1238Cys) c.3643G>T (p.Gly1215Cys) | gnomAD v4 |
6 | g.33164890C= | CA1619890486 | COL11A2 | n.631G= c.4825G= (p.Gly1609=) c.4504G= (p.Gly1502=) c.4567G= (p.Gly1523=) n.615G= c.3979G= (p.Gly1327=) c.4111G= (p.Gly1371=) c.3931G= (p.Gly1311=) c.3868G= (p.Gly1290=) c.3712G= (p.Gly1238=) c.3643G= (p.Gly1215=) | |
6 | g.33164890C>G | CA363617518 | COL11A2 | n.631G>C c.4825G>C (p.Gly1609Arg) c.4504G>C (p.Gly1502Arg) c.4567G>C (p.Gly1523Arg) n.615G>C c.3979G>C (p.Gly1327Arg) c.4111G>C (p.Gly1371Arg) c.3931G>C (p.Gly1311Arg) c.3868G>C (p.Gly1290Arg) c.3712G>C (p.Gly1238Arg) c.3643G>C (p.Gly1215Arg) | gnomAD v4 |
6 | g.33164890C>T | CA363617520 | COL11A2 | n.631G>A c.4825G>A (p.Gly1609Ser) c.4504G>A (p.Gly1502Ser) c.4567G>A (p.Gly1523Ser) n.615G>A c.3979G>A (p.Gly1327Ser) c.4111G>A (p.Gly1371Ser) c.3931G>A (p.Gly1311Ser) c.3868G>A (p.Gly1290Ser) c.3712G>A (p.Gly1238Ser) c.3643G>A (p.Gly1215Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164891C>A | CA449867287 | COL11A2 | n.630G>T c.4824G>T (p.Gly1608=) c.4503G>T (p.Gly1501=) c.4566G>T (p.Gly1522=) n.614G>T c.3978G>T (p.Gly1326=) c.4110G>T (p.Gly1370=) c.3930G>T (p.Gly1310=) c.3867G>T (p.Gly1289=) c.3711G>T (p.Gly1237=) c.3642G>T (p.Gly1214=) | gnomAD v4 |
6 | g.33164891C= | CA1619890490 | COL11A2 | n.630G= c.4824G= (p.Gly1608=) c.4503G= (p.Gly1501=) c.4566G= (p.Gly1522=) n.614G= c.3978G= (p.Gly1326=) c.4110G= (p.Gly1370=) c.3930G= (p.Gly1310=) c.3867G= (p.Gly1289=) c.3711G= (p.Gly1237=) c.3642G= (p.Gly1214=) | |
6 | g.33164891C>G | CA449867288 | COL11A2 | n.630G>C c.4824G>C (p.Gly1608=) c.4503G>C (p.Gly1501=) c.4566G>C (p.Gly1522=) n.614G>C c.3978G>C (p.Gly1326=) c.4110G>C (p.Gly1370=) c.3930G>C (p.Gly1310=) c.3867G>C (p.Gly1289=) c.3711G>C (p.Gly1237=) c.3642G>C (p.Gly1214=) | ClinVar |
6 | g.33164891C>T | CA449867289 | COL11A2 | n.630G>A c.4824G>A (p.Gly1608=) c.4503G>A (p.Gly1501=) c.4566G>A (p.Gly1522=) n.614G>A c.3978G>A (p.Gly1326=) c.4110G>A (p.Gly1370=) c.3930G>A (p.Gly1310=) c.3867G>A (p.Gly1289=) c.3711G>A (p.Gly1237=) c.3642G>A (p.Gly1214=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164892C>A | CA363617522 | COL11A2 | n.629G>T c.4823G>T (p.Gly1608Val) c.4502G>T (p.Gly1501Val) c.4565G>T (p.Gly1522Val) n.613G>T c.3977G>T (p.Gly1326Val) c.4109G>T (p.Gly1370Val) c.3929G>T (p.Gly1310Val) c.3866G>T (p.Gly1289Val) c.3710G>T (p.Gly1237Val) c.3641G>T (p.Gly1214Val) | gnomAD v4 |
6 | g.33164892C= | CA1619890492 | COL11A2 | n.629G= c.4823G= (p.Gly1608=) c.4502G= (p.Gly1501=) c.4565G= (p.Gly1522=) n.613G= c.3977G= (p.Gly1326=) c.4109G= (p.Gly1370=) c.3929G= (p.Gly1310=) c.3866G= (p.Gly1289=) c.3710G= (p.Gly1237=) c.3641G= (p.Gly1214=) | |
6 | g.33164892C>G | CA363617524 | COL11A2 | n.629G>C c.4823G>C (p.Gly1608Ala) c.4502G>C (p.Gly1501Ala) c.4565G>C (p.Gly1522Ala) n.613G>C c.3977G>C (p.Gly1326Ala) c.4109G>C (p.Gly1370Ala) c.3929G>C (p.Gly1310Ala) c.3866G>C (p.Gly1289Ala) c.3710G>C (p.Gly1237Ala) c.3641G>C (p.Gly1214Ala) | |
6 | g.33164892C>T | CA363617526 | COL11A2 | n.629G>A c.4823G>A (p.Gly1608Glu) c.4502G>A (p.Gly1501Glu) c.4565G>A (p.Gly1522Glu) n.613G>A c.3977G>A (p.Gly1326Glu) c.4109G>A (p.Gly1370Glu) c.3929G>A (p.Gly1310Glu) c.3866G>A (p.Gly1289Glu) c.3710G>A (p.Gly1237Glu) c.3641G>A (p.Gly1214Glu) | dbSNP |
6 | g.33164893C>A | CA137061735 | COL11A2 | n.628G>T c.4822G>T (p.Gly1608Trp) c.4501G>T (p.Gly1501Trp) c.4564G>T (p.Gly1522Trp) n.612G>T c.3976G>T (p.Gly1326Trp) c.4108G>T (p.Gly1370Trp) c.3928G>T (p.Gly1310Trp) c.3865G>T (p.Gly1289Trp) c.3709G>T (p.Gly1237Trp) c.3640G>T (p.Gly1214Trp) | dbSNP gnomAD v4 |
6 | g.33164893C= | CA1619890499 | COL11A2 | n.628G= c.4822G= (p.Gly1608=) c.4501G= (p.Gly1501=) c.4564G= (p.Gly1522=) n.612G= c.3976G= (p.Gly1326=) c.4108G= (p.Gly1370=) c.3928G= (p.Gly1310=) c.3865G= (p.Gly1289=) c.3709G= (p.Gly1237=) c.3640G= (p.Gly1214=) | |
6 | g.33164893C>G | CA363617529 | COL11A2 | n.628G>C c.4822G>C (p.Gly1608Arg) c.4501G>C (p.Gly1501Arg) c.4564G>C (p.Gly1522Arg) n.612G>C c.3976G>C (p.Gly1326Arg) c.4108G>C (p.Gly1370Arg) c.3928G>C (p.Gly1310Arg) c.3865G>C (p.Gly1289Arg) c.3709G>C (p.Gly1237Arg) c.3640G>C (p.Gly1214Arg) | |
6 | g.33164893C>T | CA363617531 | COL11A2 | n.628G>A c.4822G>A (p.Gly1608Arg) c.4501G>A (p.Gly1501Arg) c.4564G>A (p.Gly1522Arg) n.612G>A c.3976G>A (p.Gly1326Arg) c.4108G>A (p.Gly1370Arg) c.3928G>A (p.Gly1310Arg) c.3865G>A (p.Gly1289Arg) c.3709G>A (p.Gly1237Arg) c.3640G>A (p.Gly1214Arg) | gnomAD v4 |
6 | g.33164894T>A | CA449867290 | COL11A2 | n.627A>T c.4821A>T (p.Ala1607=) c.4500A>T (p.Ala1500=) c.4563A>T (p.Ala1521=) n.611A>T c.3975A>T (p.Ala1325=) c.4107A>T (p.Ala1369=) c.3927A>T (p.Ala1309=) c.3864A>T (p.Ala1288=) c.3708A>T (p.Ala1236=) c.3639A>T (p.Ala1213=) | |
6 | g.33164894T>C | CA449867291 | COL11A2 | n.627A>G c.4821A>G (p.Ala1607=) c.4500A>G (p.Ala1500=) c.4563A>G (p.Ala1521=) n.611A>G c.3975A>G (p.Ala1325=) c.4107A>G (p.Ala1369=) c.3927A>G (p.Ala1309=) c.3864A>G (p.Ala1288=) c.3708A>G (p.Ala1236=) c.3639A>G (p.Ala1213=) | ClinVar gnomAD v4 |
6 | g.33164894T>G | CA3749993 | COL11A2 | n.627A>C c.4821A>C (p.Ala1607=) c.4500A>C (p.Ala1500=) c.4563A>C (p.Ala1521=) n.611A>C c.3975A>C (p.Ala1325=) c.4107A>C (p.Ala1369=) c.3927A>C (p.Ala1309=) c.3864A>C (p.Ala1288=) c.3708A>C (p.Ala1236=) c.3639A>C (p.Ala1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164894T= | CA1619890504 | COL11A2 | n.627A= c.4821A= (p.Ala1607=) c.4500A= (p.Ala1500=) c.4563A= (p.Ala1521=) n.611A= c.3975A= (p.Ala1325=) c.4107A= (p.Ala1369=) c.3927A= (p.Ala1309=) c.3864A= (p.Ala1288=) c.3708A= (p.Ala1236=) c.3639A= (p.Ala1213=) | |
6 | g.33164895G>A | CA363617532 | COL11A2 | n.626C>T c.4820C>T (p.Ala1607Val) c.4499C>T (p.Ala1500Val) c.4562C>T (p.Ala1521Val) n.610C>T c.3974C>T (p.Ala1325Val) c.4106C>T (p.Ala1369Val) c.3926C>T (p.Ala1309Val) c.3863C>T (p.Ala1288Val) c.3707C>T (p.Ala1236Val) c.3638C>T (p.Ala1213Val) | gnomAD v4 |
6 | g.33164895G>C | CA363617534 | COL11A2 | n.626C>G c.4820C>G (p.Ala1607Gly) c.4499C>G (p.Ala1500Gly) c.4562C>G (p.Ala1521Gly) n.610C>G c.3974C>G (p.Ala1325Gly) c.4106C>G (p.Ala1369Gly) c.3926C>G (p.Ala1309Gly) c.3863C>G (p.Ala1288Gly) c.3707C>G (p.Ala1236Gly) c.3638C>G (p.Ala1213Gly) | |
6 | g.33164895G>T | CA363617536 | COL11A2 | n.626C>A c.4820C>A (p.Ala1607Glu) c.4499C>A (p.Ala1500Glu) c.4562C>A (p.Ala1521Glu) n.610C>A c.3974C>A (p.Ala1325Glu) c.4106C>A (p.Ala1369Glu) c.3926C>A (p.Ala1309Glu) c.3863C>A (p.Ala1288Glu) c.3707C>A (p.Ala1236Glu) c.3638C>A (p.Ala1213Glu) | gnomAD v4 |
6 | g.33164896C>A | CA363617540 | COL11A2 | n.625G>T c.4819G>T (p.Ala1607Ser) c.4498G>T (p.Ala1500Ser) c.4561G>T (p.Ala1521Ser) n.609G>T c.3973G>T (p.Ala1325Ser) c.4105G>T (p.Ala1369Ser) c.3925G>T (p.Ala1309Ser) c.3862G>T (p.Ala1288Ser) c.3706G>T (p.Ala1236Ser) c.3637G>T (p.Ala1213Ser) | gnomAD v4 |
6 | g.33164896C>G | CA363617541 | COL11A2 | n.625G>C c.4819G>C (p.Ala1607Pro) c.4498G>C (p.Ala1500Pro) c.4561G>C (p.Ala1521Pro) n.609G>C c.3973G>C (p.Ala1325Pro) c.4105G>C (p.Ala1369Pro) c.3925G>C (p.Ala1309Pro) c.3862G>C (p.Ala1288Pro) c.3706G>C (p.Ala1236Pro) c.3637G>C (p.Ala1213Pro) | |
6 | g.33164896C>T | CA363617538 | COL11A2 | n.625G>A c.4819G>A (p.Ala1607Thr) c.4498G>A (p.Ala1500Thr) c.4561G>A (p.Ala1521Thr) n.609G>A c.3973G>A (p.Ala1325Thr) c.4105G>A (p.Ala1369Thr) c.3925G>A (p.Ala1309Thr) c.3862G>A (p.Ala1288Thr) c.3706G>A (p.Ala1236Thr) c.3637G>A (p.Ala1213Thr) | gnomAD v4 COSMIC |
6 | g.33164897T>A | CA449867292 | COL11A2 | n.624A>T c.4818A>T (p.Thr1606=) c.4497A>T (p.Thr1499=) c.4560A>T (p.Thr1520=) n.608A>T c.3972A>T (p.Thr1324=) c.4104A>T (p.Thr1368=) c.3924A>T (p.Thr1308=) c.3861A>T (p.Thr1287=) c.3705A>T (p.Thr1235=) c.3636A>T (p.Thr1212=) | |
6 | g.33164897T>C | CA449867293 | COL11A2 | n.624A>G c.4818A>G (p.Thr1606=) c.4497A>G (p.Thr1499=) c.4560A>G (p.Thr1520=) n.608A>G c.3972A>G (p.Thr1324=) c.4104A>G (p.Thr1368=) c.3924A>G (p.Thr1308=) c.3861A>G (p.Thr1287=) c.3705A>G (p.Thr1235=) c.3636A>G (p.Thr1212=) | gnomAD v4 |
6 | g.33164897T>G | CA449867294 | COL11A2 | n.624A>C c.4818A>C (p.Thr1606=) c.4497A>C (p.Thr1499=) c.4560A>C (p.Thr1520=) n.608A>C c.3972A>C (p.Thr1324=) c.4104A>C (p.Thr1368=) c.3924A>C (p.Thr1308=) c.3861A>C (p.Thr1287=) c.3705A>C (p.Thr1235=) c.3636A>C (p.Thr1212=) | |
6 | g.33164898G>A | CA363617545 | COL11A2 | n.623C>T c.4817C>T (p.Thr1606Ile) c.4496C>T (p.Thr1499Ile) c.4559C>T (p.Thr1520Ile) n.607C>T c.3971C>T (p.Thr1324Ile) c.4103C>T (p.Thr1368Ile) c.3923C>T (p.Thr1308Ile) c.3860C>T (p.Thr1287Ile) c.3704C>T (p.Thr1235Ile) c.3635C>T (p.Thr1212Ile) | gnomAD v4 |
6 | g.33164898G>C | CA363617542 | COL11A2 | n.623C>G c.4817C>G (p.Thr1606Arg) c.4496C>G (p.Thr1499Arg) c.4559C>G (p.Thr1520Arg) n.607C>G c.3971C>G (p.Thr1324Arg) c.4103C>G (p.Thr1368Arg) c.3923C>G (p.Thr1308Arg) c.3860C>G (p.Thr1287Arg) c.3704C>G (p.Thr1235Arg) c.3635C>G (p.Thr1212Arg) | |
6 | g.33164898G>T | CA363617543 | COL11A2 | n.623C>A c.4817C>A (p.Thr1606Lys) c.4496C>A (p.Thr1499Lys) c.4559C>A (p.Thr1520Lys) n.607C>A c.3971C>A (p.Thr1324Lys) c.4103C>A (p.Thr1368Lys) c.3923C>A (p.Thr1308Lys) c.3860C>A (p.Thr1287Lys) c.3704C>A (p.Thr1235Lys) c.3635C>A (p.Thr1212Lys) | gnomAD v4 |
6 | g.33164899T>A | CA363617547 | COL11A2 | n.622A>T c.4816A>T (p.Thr1606Ser) c.4495A>T (p.Thr1499Ser) c.4558A>T (p.Thr1520Ser) n.606A>T c.3970A>T (p.Thr1324Ser) c.4102A>T (p.Thr1368Ser) c.3922A>T (p.Thr1308Ser) c.3859A>T (p.Thr1287Ser) c.3703A>T (p.Thr1235Ser) c.3634A>T (p.Thr1212Ser) | |
6 | g.33164899T>C | CA363617549 | COL11A2 | n.622A>G c.4816A>G (p.Thr1606Ala) c.4495A>G (p.Thr1499Ala) c.4558A>G (p.Thr1520Ala) n.606A>G c.3970A>G (p.Thr1324Ala) c.4102A>G (p.Thr1368Ala) c.3922A>G (p.Thr1308Ala) c.3859A>G (p.Thr1287Ala) c.3703A>G (p.Thr1235Ala) c.3634A>G (p.Thr1212Ala) | ClinVar gnomAD v4 |
6 | g.33164899T>G | CA363617550 | COL11A2 | n.622A>C c.4816A>C (p.Thr1606Pro) c.4495A>C (p.Thr1499Pro) c.4558A>C (p.Thr1520Pro) n.606A>C c.3970A>C (p.Thr1324Pro) c.4102A>C (p.Thr1368Pro) c.3922A>C (p.Thr1308Pro) c.3859A>C (p.Thr1287Pro) c.3703A>C (p.Thr1235Pro) c.3634A>C (p.Thr1212Pro) | |
6 | g.33164900G>A | CA449867295 | COL11A2 | n.621C>T c.4815C>T (p.Phe1605=) c.4494C>T (p.Phe1498=) c.4557C>T (p.Phe1519=) n.605C>T c.3969C>T (p.Phe1323=) c.4101C>T (p.Phe1367=) c.3921C>T (p.Phe1307=) c.3858C>T (p.Phe1286=) c.3702C>T (p.Phe1234=) c.3633C>T (p.Phe1211=) | gnomAD v4 |
6 | g.33164900G>C | CA363617552 | COL11A2 | n.621C>G c.4815C>G (p.Phe1605Leu) c.4494C>G (p.Phe1498Leu) c.4557C>G (p.Phe1519Leu) n.605C>G c.3969C>G (p.Phe1323Leu) c.4101C>G (p.Phe1367Leu) c.3921C>G (p.Phe1307Leu) c.3858C>G (p.Phe1286Leu) c.3702C>G (p.Phe1234Leu) c.3633C>G (p.Phe1211Leu) | |
6 | g.33164900G>T | CA363617554 | COL11A2 | n.621C>A c.4815C>A (p.Phe1605Leu) c.4494C>A (p.Phe1498Leu) c.4557C>A (p.Phe1519Leu) n.605C>A c.3969C>A (p.Phe1323Leu) c.4101C>A (p.Phe1367Leu) c.3921C>A (p.Phe1307Leu) c.3858C>A (p.Phe1286Leu) c.3702C>A (p.Phe1234Leu) c.3633C>A (p.Phe1211Leu) | gnomAD v4 |
6 | g.33164901A>C | CA363617556 | COL11A2 | n.620T>G c.4814T>G (p.Phe1605Cys) c.4493T>G (p.Phe1498Cys) c.4556T>G (p.Phe1519Cys) n.604T>G c.3968T>G (p.Phe1323Cys) c.4100T>G (p.Phe1367Cys) c.3920T>G (p.Phe1307Cys) c.3857T>G (p.Phe1286Cys) c.3701T>G (p.Phe1234Cys) c.3632T>G (p.Phe1211Cys) | |
6 | g.33164901A>G | CA363617558 | COL11A2 | n.620T>C c.4814T>C (p.Phe1605Ser) c.4493T>C (p.Phe1498Ser) c.4556T>C (p.Phe1519Ser) n.604T>C c.3968T>C (p.Phe1323Ser) c.4100T>C (p.Phe1367Ser) c.3920T>C (p.Phe1307Ser) c.3857T>C (p.Phe1286Ser) c.3701T>C (p.Phe1234Ser) c.3632T>C (p.Phe1211Ser) | gnomAD v4 |
6 | g.33164901A>T | CA363617560 | COL11A2 | n.620T>A c.4814T>A (p.Phe1605Tyr) c.4493T>A (p.Phe1498Tyr) c.4556T>A (p.Phe1519Tyr) n.604T>A c.3968T>A (p.Phe1323Tyr) c.4100T>A (p.Phe1367Tyr) c.3920T>A (p.Phe1307Tyr) c.3857T>A (p.Phe1286Tyr) c.3701T>A (p.Phe1234Tyr) c.3632T>A (p.Phe1211Tyr) | |
6 | g.33164902A>C | CA363617571 | COL11A2 | n.619T>G c.4813T>G (p.Phe1605Val) c.4492T>G (p.Phe1498Val) c.4555T>G (p.Phe1519Val) n.603T>G c.3967T>G (p.Phe1323Val) c.4099T>G (p.Phe1367Val) c.3919T>G (p.Phe1307Val) c.3856T>G (p.Phe1286Val) c.3700T>G (p.Phe1234Val) c.3631T>G (p.Phe1211Val) | |
6 | g.33164902A>G | CA363617573 | COL11A2 | n.619T>C c.4813T>C (p.Phe1605Leu) c.4492T>C (p.Phe1498Leu) c.4555T>C (p.Phe1519Leu) n.603T>C c.3967T>C (p.Phe1323Leu) c.4099T>C (p.Phe1367Leu) c.3919T>C (p.Phe1307Leu) c.3856T>C (p.Phe1286Leu) c.3700T>C (p.Phe1234Leu) c.3631T>C (p.Phe1211Leu) | gnomAD v4 |
6 | g.33164902A>T | CA363617575 | COL11A2 | n.619T>A c.4813T>A (p.Phe1605Ile) c.4492T>A (p.Phe1498Ile) c.4555T>A (p.Phe1519Ile) n.603T>A c.3967T>A (p.Phe1323Ile) c.4099T>A (p.Phe1367Ile) c.3919T>A (p.Phe1307Ile) c.3856T>A (p.Phe1286Ile) c.3700T>A (p.Phe1234Ile) c.3631T>A (p.Phe1211Ile) | |
6 | g.33164903G>A | CA449867296 | COL11A2 | n.618C>T c.4812C>T (p.Asn1604=) c.4491C>T (p.Asn1497=) c.4554C>T (p.Asn1518=) n.602C>T c.3966C>T (p.Asn1322=) c.4098C>T (p.Asn1366=) c.3918C>T (p.Asn1306=) c.3855C>T (p.Asn1285=) c.3699C>T (p.Asn1233=) c.3630C>T (p.Asn1210=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164903G>C | CA363617579 | COL11A2 | n.618C>G c.4812C>G (p.Asn1604Lys) c.4491C>G (p.Asn1497Lys) c.4554C>G (p.Asn1518Lys) n.602C>G c.3966C>G (p.Asn1322Lys) c.4098C>G (p.Asn1366Lys) c.3918C>G (p.Asn1306Lys) c.3855C>G (p.Asn1285Lys) c.3699C>G (p.Asn1233Lys) c.3630C>G (p.Asn1210Lys) | |
6 | g.33164903G= | CA1619890508 | COL11A2 | n.618C= c.4812C= (p.Asn1604=) c.4491C= (p.Asn1497=) c.4554C= (p.Asn1518=) n.602C= c.3966C= (p.Asn1322=) c.4098C= (p.Asn1366=) c.3918C= (p.Asn1306=) c.3855C= (p.Asn1285=) c.3699C= (p.Asn1233=) c.3630C= (p.Asn1210=) | |
6 | g.33164903G>T | CA363617577 | COL11A2 | n.618C>A c.4812C>A (p.Asn1604Lys) c.4491C>A (p.Asn1497Lys) c.4554C>A (p.Asn1518Lys) n.602C>A c.3966C>A (p.Asn1322Lys) c.4098C>A (p.Asn1366Lys) c.3918C>A (p.Asn1306Lys) c.3855C>A (p.Asn1285Lys) c.3699C>A (p.Asn1233Lys) c.3630C>A (p.Asn1210Lys) | gnomAD v4 |
6 | g.33164904T>A | CA363617581 | COL11A2 | n.617A>T c.4811A>T (p.Asn1604Ile) c.4490A>T (p.Asn1497Ile) c.4553A>T (p.Asn1518Ile) n.601A>T c.3965A>T (p.Asn1322Ile) c.4097A>T (p.Asn1366Ile) c.3917A>T (p.Asn1306Ile) c.3854A>T (p.Asn1285Ile) c.3698A>T (p.Asn1233Ile) c.3629A>T (p.Asn1210Ile) | |
6 | g.33164904T>C | CA363617582 | COL11A2 | n.617A>G c.4811A>G (p.Asn1604Ser) c.4490A>G (p.Asn1497Ser) c.4553A>G (p.Asn1518Ser) n.601A>G c.3965A>G (p.Asn1322Ser) c.4097A>G (p.Asn1366Ser) c.3917A>G (p.Asn1306Ser) c.3854A>G (p.Asn1285Ser) c.3698A>G (p.Asn1233Ser) c.3629A>G (p.Asn1210Ser) | dbSNP gnomAD v4 |
6 | g.33164904T>G | CA363617584 | COL11A2 | n.617A>C c.4811A>C (p.Asn1604Thr) c.4490A>C (p.Asn1497Thr) c.4553A>C (p.Asn1518Thr) n.601A>C c.3965A>C (p.Asn1322Thr) c.4097A>C (p.Asn1366Thr) c.3917A>C (p.Asn1306Thr) c.3854A>C (p.Asn1285Thr) c.3698A>C (p.Asn1233Thr) c.3629A>C (p.Asn1210Thr) | dbSNP |
6 | g.33164904T= | CA1619890511 | COL11A2 | n.617A= c.4811A= (p.Asn1604=) c.4490A= (p.Asn1497=) c.4553A= (p.Asn1518=) n.601A= c.3965A= (p.Asn1322=) c.4097A= (p.Asn1366=) c.3917A= (p.Asn1306=) c.3854A= (p.Asn1285=) c.3698A= (p.Asn1233=) c.3629A= (p.Asn1210=) | |
6 | g.33164905del | CA2739273022 | COL11A2 | n.617del c.4811del (p.Asn1604ThrfsTer10) c.4490del (p.Asn1497ThrfsTer10) c.4553del (p.Asn1518ThrfsTer10) n.601del c.3965del (p.Asn1322ThrfsTer10) c.4097del (p.Asn1366ThrfsTer10) c.3917del (p.Asn1306ThrfsTer10) c.3854del (p.Asn1285ThrfsTer10) c.3698del (p.Asn1233ThrfsTer10) c.3629del (p.Asn1210ThrfsTer10) | ClinVar |
6 | g.33164908_33164909insCAGAGCTTTGCA | CA2678226374 | COL11A2 | n.617_618insAGCTCTGTGCAA c.4811_4812insAGCTCTGTGCAA (p.Cys1603_Asn1604insLysAlaLeuCys) c.4490_4491insAGCTCTGTGCAA (p.Cys1496_Asn1497insLysAlaLeuCys) c.4553_4554insAGCTCTGTGCAA (p.Cys1517_Asn1518insLysAlaLeuCys) n.601_602insAGCTCTGTGCAA c.3965_3966insAGCTCTGTGCAA (p.Cys1321_Asn1322insLysAlaLeuCys) c.4097_4098insAGCTCTGTGCAA (p.Cys1365_Asn1366insLysAlaLeuCys) c.3917_3918insAGCTCTGTGCAA (p.Cys1305_Asn1306insLysAlaLeuCys) c.3854_3855insAGCTCTGTGCAA (p.Cys1284_Asn1285insLysAlaLeuCys) c.3698_3699insAGCTCTGTGCAA (p.Cys1232_Asn1233insLysAlaLeuCys) c.3629_3630insAGCTCTGTGCAA (p.Cys1209_Asn1210insLysAlaLeuCys) | gnomAD v4 |
6 | g.33164905T>A | CA363617587 | COL11A2 | n.616A>T c.4810A>T (p.Asn1604Tyr) c.4489A>T (p.Asn1497Tyr) c.4552A>T (p.Asn1518Tyr) n.600A>T c.3964A>T (p.Asn1322Tyr) c.4096A>T (p.Asn1366Tyr) c.3916A>T (p.Asn1306Tyr) c.3853A>T (p.Asn1285Tyr) c.3697A>T (p.Asn1233Tyr) c.3628A>T (p.Asn1210Tyr) | |
6 | g.33164905T>C | CA363617588 | COL11A2 | n.616A>G c.4810A>G (p.Asn1604Asp) c.4489A>G (p.Asn1497Asp) c.4552A>G (p.Asn1518Asp) n.600A>G c.3964A>G (p.Asn1322Asp) c.4096A>G (p.Asn1366Asp) c.3916A>G (p.Asn1306Asp) c.3853A>G (p.Asn1285Asp) c.3697A>G (p.Asn1233Asp) c.3628A>G (p.Asn1210Asp) | gnomAD v4 |
6 | g.33164905T>G | CA363617590 | COL11A2 | n.616A>C c.4810A>C (p.Asn1604His) c.4489A>C (p.Asn1497His) c.4552A>C (p.Asn1518His) n.600A>C c.3964A>C (p.Asn1322His) c.4096A>C (p.Asn1366His) c.3916A>C (p.Asn1306His) c.3853A>C (p.Asn1285His) c.3697A>C (p.Asn1233His) c.3628A>C (p.Asn1210His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164905T= | CA1619890515 | COL11A2 | n.616A= c.4810A= (p.Asn1604=) c.4489A= (p.Asn1497=) c.4552A= (p.Asn1518=) n.600A= c.3964A= (p.Asn1322=) c.4096A= (p.Asn1366=) c.3916A= (p.Asn1306=) c.3853A= (p.Asn1285=) c.3697A= (p.Asn1233=) c.3628A= (p.Asn1210=) | |
6 | g.33164906G>A | CA449867297 | COL11A2 | n.615C>T c.4809C>T (p.Cys1603=) c.4488C>T (p.Cys1496=) c.4551C>T (p.Cys1517=) n.599C>T c.3963C>T (p.Cys1321=) c.4095C>T (p.Cys1365=) c.3915C>T (p.Cys1305=) c.3852C>T (p.Cys1284=) c.3696C>T (p.Cys1232=) c.3627C>T (p.Cys1209=) | gnomAD v4 |
6 | g.33164906G>C | CA363617592 | COL11A2 | n.615C>G c.4809C>G (p.Cys1603Trp) c.4488C>G (p.Cys1496Trp) c.4551C>G (p.Cys1517Trp) n.599C>G c.3963C>G (p.Cys1321Trp) c.4095C>G (p.Cys1365Trp) c.3915C>G (p.Cys1305Trp) c.3852C>G (p.Cys1284Trp) c.3696C>G (p.Cys1232Trp) c.3627C>G (p.Cys1209Trp) | |
6 | g.33164906G>T | CA363617593 | COL11A2 | n.615C>A c.4809C>A (p.Cys1603Ter) c.4488C>A (p.Cys1496Ter) c.4551C>A (p.Cys1517Ter) n.599C>A c.3963C>A (p.Cys1321Ter) c.4095C>A (p.Cys1365Ter) c.3915C>A (p.Cys1305Ter) c.3852C>A (p.Cys1284Ter) c.3696C>A (p.Cys1232Ter) c.3627C>A (p.Cys1209Ter) | gnomAD v4 |
6 | g.33164907C>A | CA363617595 | COL11A2 | n.614G>T c.4808G>T (p.Cys1603Phe) c.4487G>T (p.Cys1496Phe) c.4550G>T (p.Cys1517Phe) n.598G>T c.3962G>T (p.Cys1321Phe) c.4094G>T (p.Cys1365Phe) c.3914G>T (p.Cys1305Phe) c.3851G>T (p.Cys1284Phe) c.3695G>T (p.Cys1232Phe) c.3626G>T (p.Cys1209Phe) | gnomAD v4 |
6 | g.33164907C= | CA1619890517 | COL11A2 | n.614G= c.4808G= (p.Cys1603=) c.4487G= (p.Cys1496=) c.4550G= (p.Cys1517=) n.598G= c.3962G= (p.Cys1321=) c.4094G= (p.Cys1365=) c.3914G= (p.Cys1305=) c.3851G= (p.Cys1284=) c.3695G= (p.Cys1232=) c.3626G= (p.Cys1209=) | |
6 | g.33164907C>G | CA363617598 | COL11A2 | n.614G>C c.4808G>C (p.Cys1603Ser) c.4487G>C (p.Cys1496Ser) c.4550G>C (p.Cys1517Ser) n.598G>C c.3962G>C (p.Cys1321Ser) c.4094G>C (p.Cys1365Ser) c.3914G>C (p.Cys1305Ser) c.3851G>C (p.Cys1284Ser) c.3695G>C (p.Cys1232Ser) c.3626G>C (p.Cys1209Ser) | |
6 | g.33164907C>T | CA363617599 | COL11A2 | n.614G>A c.4808G>A (p.Cys1603Tyr) c.4487G>A (p.Cys1496Tyr) c.4550G>A (p.Cys1517Tyr) n.598G>A c.3962G>A (p.Cys1321Tyr) c.4094G>A (p.Cys1365Tyr) c.3914G>A (p.Cys1305Tyr) c.3851G>A (p.Cys1284Tyr) c.3695G>A (p.Cys1232Tyr) c.3626G>A (p.Cys1209Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164908A>C | CA363617601 | COL11A2 | n.613T>G c.4807T>G (p.Cys1603Gly) c.4486T>G (p.Cys1496Gly) c.4549T>G (p.Cys1517Gly) n.597T>G c.3961T>G (p.Cys1321Gly) c.4093T>G (p.Cys1365Gly) c.3913T>G (p.Cys1305Gly) c.3850T>G (p.Cys1284Gly) c.3694T>G (p.Cys1232Gly) c.3625T>G (p.Cys1209Gly) | |
6 | g.33164908A>G | CA363617603 | COL11A2 | n.613T>C c.4807T>C (p.Cys1603Arg) c.4486T>C (p.Cys1496Arg) c.4549T>C (p.Cys1517Arg) n.597T>C c.3961T>C (p.Cys1321Arg) c.4093T>C (p.Cys1365Arg) c.3913T>C (p.Cys1305Arg) c.3850T>C (p.Cys1284Arg) c.3694T>C (p.Cys1232Arg) c.3625T>C (p.Cys1209Arg) | gnomAD v4 |
6 | g.33164908A>T | CA363617604 | COL11A2 | n.613T>A c.4807T>A (p.Cys1603Ser) c.4486T>A (p.Cys1496Ser) c.4549T>A (p.Cys1517Ser) n.597T>A c.3961T>A (p.Cys1321Ser) c.4093T>A (p.Cys1365Ser) c.3913T>A (p.Cys1305Ser) c.3850T>A (p.Cys1284Ser) c.3694T>A (p.Cys1232Ser) c.3625T>A (p.Cys1209Ser) | gnomAD v4 |
6 | g.33164909G>A | CA449867298 | COL11A2 | n.612C>T c.4806C>T (p.Phe1602=) c.4485C>T (p.Phe1495=) c.4548C>T (p.Phe1516=) n.596C>T c.3960C>T (p.Phe1320=) c.4092C>T (p.Phe1364=) c.3912C>T (p.Phe1304=) c.3849C>T (p.Phe1283=) c.3693C>T (p.Phe1231=) c.3624C>T (p.Phe1208=) | gnomAD v4 |
6 | g.33164909G>C | CA363617607 | COL11A2 | n.612C>G c.4806C>G (p.Phe1602Leu) c.4485C>G (p.Phe1495Leu) c.4548C>G (p.Phe1516Leu) n.596C>G c.3960C>G (p.Phe1320Leu) c.4092C>G (p.Phe1364Leu) c.3912C>G (p.Phe1304Leu) c.3849C>G (p.Phe1283Leu) c.3693C>G (p.Phe1231Leu) c.3624C>G (p.Phe1208Leu) | |
6 | g.33164909G>T | CA363617608 | COL11A2 | n.612C>A c.4806C>A (p.Phe1602Leu) c.4485C>A (p.Phe1495Leu) c.4548C>A (p.Phe1516Leu) n.596C>A c.3960C>A (p.Phe1320Leu) c.4092C>A (p.Phe1364Leu) c.3912C>A (p.Phe1304Leu) c.3849C>A (p.Phe1283Leu) c.3693C>A (p.Phe1231Leu) c.3624C>A (p.Phe1208Leu) | gnomAD v4 |
6 | g.33164910A>C | CA363617610 | COL11A2 | n.611T>G c.4805T>G (p.Phe1602Cys) c.4484T>G (p.Phe1495Cys) c.4547T>G (p.Phe1516Cys) n.595T>G c.3959T>G (p.Phe1320Cys) c.4091T>G (p.Phe1364Cys) c.3911T>G (p.Phe1304Cys) c.3848T>G (p.Phe1283Cys) c.3692T>G (p.Phe1231Cys) c.3623T>G (p.Phe1208Cys) | |
6 | g.33164910A>G | CA363617612 | COL11A2 | n.611T>C c.4805T>C (p.Phe1602Ser) c.4484T>C (p.Phe1495Ser) c.4547T>C (p.Phe1516Ser) n.595T>C c.3959T>C (p.Phe1320Ser) c.4091T>C (p.Phe1364Ser) c.3911T>C (p.Phe1304Ser) c.3848T>C (p.Phe1283Ser) c.3692T>C (p.Phe1231Ser) c.3623T>C (p.Phe1208Ser) | |
6 | g.33164910A>T | CA363617614 | COL11A2 | n.611T>A c.4805T>A (p.Phe1602Tyr) c.4484T>A (p.Phe1495Tyr) c.4547T>A (p.Phe1516Tyr) n.595T>A c.3959T>A (p.Phe1320Tyr) c.4091T>A (p.Phe1364Tyr) c.3911T>A (p.Phe1304Tyr) c.3848T>A (p.Phe1283Tyr) c.3692T>A (p.Phe1231Tyr) c.3623T>A (p.Phe1208Tyr) |