Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33164432G>A | CA449867056 | COL11A2 | n.711C>T c.4905C>T (p.Val1635=) c.4584C>T (p.Val1528=) c.4647C>T (p.Val1549=) n.695C>T c.4059C>T (p.Val1353=) c.4191C>T (p.Val1397=) c.4011C>T (p.Val1337=) c.3948C>T (p.Val1316=) c.3792C>T (p.Val1264=) c.3723C>T (p.Val1241=) | gnomAD v4 |
6 | g.33164432G>C | CA449867057 | COL11A2 | n.711C>G c.4905C>G (p.Val1635=) c.4584C>G (p.Val1528=) c.4647C>G (p.Val1549=) n.695C>G c.4059C>G (p.Val1353=) c.4191C>G (p.Val1397=) c.4011C>G (p.Val1337=) c.3948C>G (p.Val1316=) c.3792C>G (p.Val1264=) c.3723C>G (p.Val1241=) | |
6 | g.33164432G>T | CA449867058 | COL11A2 | n.711C>A c.4905C>A (p.Val1635=) c.4584C>A (p.Val1528=) c.4647C>A (p.Val1549=) n.695C>A c.4059C>A (p.Val1353=) c.4191C>A (p.Val1397=) c.4011C>A (p.Val1337=) c.3948C>A (p.Val1316=) c.3792C>A (p.Val1264=) c.3723C>A (p.Val1241=) | gnomAD v4 |
6 | g.33164433A= | CA1619889834 | COL11A2 | n.710T= c.4904T= (p.Val1635=) c.4583T= (p.Val1528=) c.4646T= (p.Val1549=) n.694T= c.4058T= (p.Val1353=) c.4190T= (p.Val1397=) c.4010T= (p.Val1337=) c.3947T= (p.Val1316=) c.3791T= (p.Val1264=) c.3722T= (p.Val1241=) | |
6 | g.33164433A>C | CA363616502 | COL11A2 | n.710T>G c.4904T>G (p.Val1635Gly) c.4583T>G (p.Val1528Gly) c.4646T>G (p.Val1549Gly) n.694T>G c.4058T>G (p.Val1353Gly) c.4190T>G (p.Val1397Gly) c.4010T>G (p.Val1337Gly) c.3947T>G (p.Val1316Gly) c.3791T>G (p.Val1264Gly) c.3722T>G (p.Val1241Gly) | |
6 | g.33164433A>G | CA363616504 | COL11A2 | n.710T>C c.4904T>C (p.Val1635Ala) c.4583T>C (p.Val1528Ala) c.4646T>C (p.Val1549Ala) n.694T>C c.4058T>C (p.Val1353Ala) c.4190T>C (p.Val1397Ala) c.4010T>C (p.Val1337Ala) c.3947T>C (p.Val1316Ala) c.3791T>C (p.Val1264Ala) c.3722T>C (p.Val1241Ala) | dbSNP |
6 | g.33164433A>T | CA363616505 | COL11A2 | n.710T>A c.4904T>A (p.Val1635Asp) c.4583T>A (p.Val1528Asp) c.4646T>A (p.Val1549Asp) n.694T>A c.4058T>A (p.Val1353Asp) c.4190T>A (p.Val1397Asp) c.4010T>A (p.Val1337Asp) c.3947T>A (p.Val1316Asp) c.3791T>A (p.Val1264Asp) c.3722T>A (p.Val1241Asp) | gnomAD v4 |
6 | g.33164434C>A | CA363616508 | COL11A2 | n.709G>T c.4903G>T (p.Val1635Phe) c.4582G>T (p.Val1528Phe) c.4645G>T (p.Val1549Phe) n.693G>T c.4057G>T (p.Val1353Phe) c.4189G>T (p.Val1397Phe) c.4009G>T (p.Val1337Phe) c.3946G>T (p.Val1316Phe) c.3790G>T (p.Val1264Phe) c.3721G>T (p.Val1241Phe) | gnomAD v4 |
6 | g.33164434C= | CA1619889836 | COL11A2 | n.709G= c.4903G= (p.Val1635=) c.4582G= (p.Val1528=) c.4645G= (p.Val1549=) n.693G= c.4057G= (p.Val1353=) c.4189G= (p.Val1397=) c.4009G= (p.Val1337=) c.3946G= (p.Val1316=) c.3790G= (p.Val1264=) c.3721G= (p.Val1241=) | |
6 | g.33164434C>G | CA363616511 | COL11A2 | n.709G>C c.4903G>C (p.Val1635Leu) c.4582G>C (p.Val1528Leu) c.4645G>C (p.Val1549Leu) n.693G>C c.4057G>C (p.Val1353Leu) c.4189G>C (p.Val1397Leu) c.4009G>C (p.Val1337Leu) c.3946G>C (p.Val1316Leu) c.3790G>C (p.Val1264Leu) c.3721G>C (p.Val1241Leu) | gnomAD v4 |
6 | g.33164434C>T | CA363616514 | COL11A2 | n.709G>A c.4903G>A (p.Val1635Ile) c.4582G>A (p.Val1528Ile) c.4645G>A (p.Val1549Ile) n.693G>A c.4057G>A (p.Val1353Ile) c.4189G>A (p.Val1397Ile) c.4009G>A (p.Val1337Ile) c.3946G>A (p.Val1316Ile) c.3790G>A (p.Val1264Ile) c.3721G>A (p.Val1241Ile) | dbSNP gnomAD v2 |
6 | g.33164435del | CA2678226373 | COL11A2 | n.709del c.4903del (p.Val1635SerfsTer30) c.4582del (p.Val1528SerfsTer30) c.4645del (p.Val1549SerfsTer30) n.693del c.4057del (p.Val1353SerfsTer30) c.4189del (p.Val1397SerfsTer30) c.4009del (p.Val1337SerfsTer30) c.3946del (p.Val1316SerfsTer30) c.3790del (p.Val1264SerfsTer30) c.3721del (p.Val1241SerfsTer30) | gnomAD v4 |
6 | g.33164435C>A | CA449867059 | COL11A2 | n.708G>T c.4902G>T (p.Val1634=) c.4581G>T (p.Val1527=) c.4644G>T (p.Val1548=) n.692G>T c.4056G>T (p.Val1352=) c.4188G>T (p.Val1396=) c.4008G>T (p.Val1336=) c.3945G>T (p.Val1315=) c.3789G>T (p.Val1263=) c.3720G>T (p.Val1240=) | gnomAD v4 |
6 | g.33164435C>G | CA449867060 | COL11A2 | n.708G>C c.4902G>C (p.Val1634=) c.4581G>C (p.Val1527=) c.4644G>C (p.Val1548=) n.692G>C c.4056G>C (p.Val1352=) c.4188G>C (p.Val1396=) c.4008G>C (p.Val1336=) c.3945G>C (p.Val1315=) c.3789G>C (p.Val1263=) c.3720G>C (p.Val1240=) | |
6 | g.33164435C>T | CA449867061 | COL11A2 | n.708G>A c.4902G>A (p.Val1634=) c.4581G>A (p.Val1527=) c.4644G>A (p.Val1548=) n.692G>A c.4056G>A (p.Val1352=) c.4188G>A (p.Val1396=) c.4008G>A (p.Val1336=) c.3945G>A (p.Val1315=) c.3789G>A (p.Val1263=) c.3720G>A (p.Val1240=) | ClinVar |
6 | g.33164436A= | CA1619889838 | COL11A2 | n.707T= c.4901T= (p.Val1634=) c.4580T= (p.Val1527=) c.4643T= (p.Val1548=) n.691T= c.4055T= (p.Val1352=) c.4187T= (p.Val1396=) c.4007T= (p.Val1336=) c.3944T= (p.Val1315=) c.3788T= (p.Val1263=) c.3719T= (p.Val1240=) | |
6 | g.33164436A>C | CA363616515 | COL11A2 | n.707T>G c.4901T>G (p.Val1634Gly) c.4580T>G (p.Val1527Gly) c.4643T>G (p.Val1548Gly) n.691T>G c.4055T>G (p.Val1352Gly) c.4187T>G (p.Val1396Gly) c.4007T>G (p.Val1336Gly) c.3944T>G (p.Val1315Gly) c.3788T>G (p.Val1263Gly) c.3719T>G (p.Val1240Gly) | |
6 | g.33164436A>G | CA363616517 | COL11A2 | n.707T>C c.4901T>C (p.Val1634Ala) c.4580T>C (p.Val1527Ala) c.4643T>C (p.Val1548Ala) n.691T>C c.4055T>C (p.Val1352Ala) c.4187T>C (p.Val1396Ala) c.4007T>C (p.Val1336Ala) c.3944T>C (p.Val1315Ala) c.3788T>C (p.Val1263Ala) c.3719T>C (p.Val1240Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164436A>T | CA363616518 | COL11A2 | n.707T>A c.4901T>A (p.Val1634Glu) c.4580T>A (p.Val1527Glu) c.4643T>A (p.Val1548Glu) n.691T>A c.4055T>A (p.Val1352Glu) c.4187T>A (p.Val1396Glu) c.4007T>A (p.Val1336Glu) c.3944T>A (p.Val1315Glu) c.3788T>A (p.Val1263Glu) c.3719T>A (p.Val1240Glu) | |
6 | g.33164437C>A | CA363616520 | COL11A2 | n.706G>T c.4900G>T (p.Val1634Leu) c.4579G>T (p.Val1527Leu) c.4642G>T (p.Val1548Leu) n.690G>T c.4054G>T (p.Val1352Leu) c.4186G>T (p.Val1396Leu) c.4006G>T (p.Val1336Leu) c.3943G>T (p.Val1315Leu) c.3787G>T (p.Val1263Leu) c.3718G>T (p.Val1240Leu) | gnomAD v4 |
6 | g.33164437C>G | CA363616523 | COL11A2 | n.706G>C c.4900G>C (p.Val1634Leu) c.4579G>C (p.Val1527Leu) c.4642G>C (p.Val1548Leu) n.690G>C c.4054G>C (p.Val1352Leu) c.4186G>C (p.Val1396Leu) c.4006G>C (p.Val1336Leu) c.3943G>C (p.Val1315Leu) c.3787G>C (p.Val1263Leu) c.3718G>C (p.Val1240Leu) | |
6 | g.33164437C>T | CA363616524 | COL11A2 | n.706G>A c.4900G>A (p.Val1634Met) c.4579G>A (p.Val1527Met) c.4642G>A (p.Val1548Met) n.690G>A c.4054G>A (p.Val1352Met) c.4186G>A (p.Val1396Met) c.4006G>A (p.Val1336Met) c.3943G>A (p.Val1315Met) c.3787G>A (p.Val1263Met) c.3718G>A (p.Val1240Met) | gnomAD v4 |
6 | g.33164438A>C | CA449867062 | COL11A2 | n.705T>G c.4899T>G (p.Gly1633=) c.4578T>G (p.Gly1526=) c.4641T>G (p.Gly1547=) n.689T>G c.4053T>G (p.Gly1351=) c.4185T>G (p.Gly1395=) c.4005T>G (p.Gly1335=) c.3942T>G (p.Gly1314=) c.3786T>G (p.Gly1262=) c.3717T>G (p.Gly1239=) | |
6 | g.33164438A>G | CA449867063 | COL11A2 | n.705T>C c.4899T>C (p.Gly1633=) c.4578T>C (p.Gly1526=) c.4641T>C (p.Gly1547=) n.689T>C c.4053T>C (p.Gly1351=) c.4185T>C (p.Gly1395=) c.4005T>C (p.Gly1335=) c.3942T>C (p.Gly1314=) c.3786T>C (p.Gly1262=) c.3717T>C (p.Gly1239=) | |
6 | g.33164438A>T | CA449867064 | COL11A2 | n.705T>A c.4899T>A (p.Gly1633=) c.4578T>A (p.Gly1526=) c.4641T>A (p.Gly1547=) n.689T>A c.4053T>A (p.Gly1351=) c.4185T>A (p.Gly1395=) c.4005T>A (p.Gly1335=) c.3942T>A (p.Gly1314=) c.3786T>A (p.Gly1262=) c.3717T>A (p.Gly1239=) | |
6 | g.33164439C>A | CA363616530 | COL11A2 | n.704G>T c.4898G>T (p.Gly1633Val) c.4577G>T (p.Gly1526Val) c.4640G>T (p.Gly1547Val) n.688G>T c.4052G>T (p.Gly1351Val) c.4184G>T (p.Gly1395Val) c.4004G>T (p.Gly1335Val) c.3941G>T (p.Gly1314Val) c.3785G>T (p.Gly1262Val) c.3716G>T (p.Gly1239Val) | gnomAD v4 |
6 | g.33164439C= | CA1619889844 | COL11A2 | n.704G= c.4898G= (p.Gly1633=) c.4577G= (p.Gly1526=) c.4640G= (p.Gly1547=) n.688G= c.4052G= (p.Gly1351=) c.4184G= (p.Gly1395=) c.4004G= (p.Gly1335=) c.3941G= (p.Gly1314=) c.3785G= (p.Gly1262=) c.3716G= (p.Gly1239=) | |
6 | g.33164439C>G | CA363616527 | COL11A2 | n.704G>C c.4898G>C (p.Gly1633Ala) c.4577G>C (p.Gly1526Ala) c.4640G>C (p.Gly1547Ala) n.688G>C c.4052G>C (p.Gly1351Ala) c.4184G>C (p.Gly1395Ala) c.4004G>C (p.Gly1335Ala) c.3941G>C (p.Gly1314Ala) c.3785G>C (p.Gly1262Ala) c.3716G>C (p.Gly1239Ala) | gnomAD v4 |
6 | g.33164439C>T | CA3749959 | COL11A2 | n.704G>A c.4898G>A (p.Gly1633Asp) c.4577G>A (p.Gly1526Asp) c.4640G>A (p.Gly1547Asp) n.688G>A c.4052G>A (p.Gly1351Asp) c.4184G>A (p.Gly1395Asp) c.4004G>A (p.Gly1335Asp) c.3941G>A (p.Gly1314Asp) c.3785G>A (p.Gly1262Asp) c.3716G>A (p.Gly1239Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164440C>A | CA363616532 | COL11A2 | n.703G>T c.4897G>T (p.Gly1633Cys) c.4576G>T (p.Gly1526Cys) c.4639G>T (p.Gly1547Cys) n.687G>T c.4051G>T (p.Gly1351Cys) c.4183G>T (p.Gly1395Cys) c.4003G>T (p.Gly1335Cys) c.3940G>T (p.Gly1314Cys) c.3784G>T (p.Gly1262Cys) c.3715G>T (p.Gly1239Cys) | gnomAD v4 |
6 | g.33164440C= | CA1619889850 | COL11A2 | n.703G= c.4897G= (p.Gly1633=) c.4576G= (p.Gly1526=) c.4639G= (p.Gly1547=) n.687G= c.4051G= (p.Gly1351=) c.4183G= (p.Gly1395=) c.4003G= (p.Gly1335=) c.3940G= (p.Gly1314=) c.3784G= (p.Gly1262=) c.3715G= (p.Gly1239=) | |
6 | g.33164440C>G | CA3749960 | COL11A2 | n.703G>C c.4897G>C (p.Gly1633Arg) c.4576G>C (p.Gly1526Arg) c.4639G>C (p.Gly1547Arg) n.687G>C c.4051G>C (p.Gly1351Arg) c.4183G>C (p.Gly1395Arg) c.4003G>C (p.Gly1335Arg) c.3940G>C (p.Gly1314Arg) c.3784G>C (p.Gly1262Arg) c.3715G>C (p.Gly1239Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164440C>T | CA363616536 | COL11A2 | n.703G>A c.4897G>A (p.Gly1633Ser) c.4576G>A (p.Gly1526Ser) c.4639G>A (p.Gly1547Ser) n.687G>A c.4051G>A (p.Gly1351Ser) c.4183G>A (p.Gly1395Ser) c.4003G>A (p.Gly1335Ser) c.3940G>A (p.Gly1314Ser) c.3784G>A (p.Gly1262Ser) c.3715G>A (p.Gly1239Ser) | dbSNP gnomAD v2 |
6 | g.33164441C>A | CA449867065 | COL11A2 | n.702G>T c.4896G>T (p.Val1632=) c.4575G>T (p.Val1525=) c.4638G>T (p.Val1546=) n.686G>T c.4050G>T (p.Val1350=) c.4182G>T (p.Val1394=) c.4002G>T (p.Val1334=) c.3939G>T (p.Val1313=) c.3783G>T (p.Val1261=) c.3714G>T (p.Val1238=) | gnomAD v4 |
6 | g.33164441C= | CA1619889854 | COL11A2 | n.702G= c.4896G= (p.Val1632=) c.4575G= (p.Val1525=) c.4638G= (p.Val1546=) n.686G= c.4050G= (p.Val1350=) c.4182G= (p.Val1394=) c.4002G= (p.Val1334=) c.3939G= (p.Val1313=) c.3783G= (p.Val1261=) c.3714G= (p.Val1238=) | |
6 | g.33164441C>G | CA449867066 | COL11A2 | n.702G>C c.4896G>C (p.Val1632=) c.4575G>C (p.Val1525=) c.4638G>C (p.Val1546=) n.686G>C c.4050G>C (p.Val1350=) c.4182G>C (p.Val1394=) c.4002G>C (p.Val1334=) c.3939G>C (p.Val1313=) c.3783G>C (p.Val1261=) c.3714G>C (p.Val1238=) | |
6 | g.33164441C>T | CA449867067 | COL11A2 | n.702G>A c.4896G>A (p.Val1632=) c.4575G>A (p.Val1525=) c.4638G>A (p.Val1546=) n.686G>A c.4050G>A (p.Val1350=) c.4182G>A (p.Val1394=) c.4002G>A (p.Val1334=) c.3939G>A (p.Val1313=) c.3783G>A (p.Val1261=) c.3714G>A (p.Val1238=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.33164442A>C | CA363616538 | COL11A2 | n.701T>G c.4895T>G (p.Val1632Gly) c.4574T>G (p.Val1525Gly) c.4637T>G (p.Val1546Gly) n.685T>G c.4049T>G (p.Val1350Gly) c.4181T>G (p.Val1394Gly) c.4001T>G (p.Val1334Gly) c.3938T>G (p.Val1313Gly) c.3782T>G (p.Val1261Gly) c.3713T>G (p.Val1238Gly) | |
6 | g.33164442A>G | CA363616539 | COL11A2 | n.701T>C c.4895T>C (p.Val1632Ala) c.4574T>C (p.Val1525Ala) c.4637T>C (p.Val1546Ala) n.685T>C c.4049T>C (p.Val1350Ala) c.4181T>C (p.Val1394Ala) c.4001T>C (p.Val1334Ala) c.3938T>C (p.Val1313Ala) c.3782T>C (p.Val1261Ala) c.3713T>C (p.Val1238Ala) | |
6 | g.33164442A>T | CA363616540 | COL11A2 | n.701T>A c.4895T>A (p.Val1632Glu) c.4574T>A (p.Val1525Glu) c.4637T>A (p.Val1546Glu) n.685T>A c.4049T>A (p.Val1350Glu) c.4181T>A (p.Val1394Glu) c.4001T>A (p.Val1334Glu) c.3938T>A (p.Val1313Glu) c.3782T>A (p.Val1261Glu) c.3713T>A (p.Val1238Glu) | |
6 | g.33164443C>A | CA363616541 | COL11A2 | n.700G>T c.4894G>T (p.Val1632Leu) c.4573G>T (p.Val1525Leu) c.4636G>T (p.Val1546Leu) n.684G>T c.4048G>T (p.Val1350Leu) c.4180G>T (p.Val1394Leu) c.4000G>T (p.Val1334Leu) c.3937G>T (p.Val1313Leu) c.3781G>T (p.Val1261Leu) c.3712G>T (p.Val1238Leu) | gnomAD v4 |
6 | g.33164443C>G | CA363616542 | COL11A2 | n.700G>C c.4894G>C (p.Val1632Leu) c.4573G>C (p.Val1525Leu) c.4636G>C (p.Val1546Leu) n.684G>C c.4048G>C (p.Val1350Leu) c.4180G>C (p.Val1394Leu) c.4000G>C (p.Val1334Leu) c.3937G>C (p.Val1313Leu) c.3781G>C (p.Val1261Leu) c.3712G>C (p.Val1238Leu) | |
6 | g.33164443C>T | CA363616544 | COL11A2 | n.700G>A c.4894G>A (p.Val1632Met) c.4573G>A (p.Val1525Met) c.4636G>A (p.Val1546Met) n.684G>A c.4048G>A (p.Val1350Met) c.4180G>A (p.Val1394Met) c.4000G>A (p.Val1334Met) c.3937G>A (p.Val1313Met) c.3781G>A (p.Val1261Met) c.3712G>A (p.Val1238Met) | gnomAD v4 |
6 | g.33164444T>A | CA449867068 | COL11A2 | n.699A>T c.4893A>T (p.Pro1631=) c.4572A>T (p.Pro1524=) c.4635A>T (p.Pro1545=) n.683A>T c.4047A>T (p.Pro1349=) c.4179A>T (p.Pro1393=) c.3999A>T (p.Pro1333=) c.3936A>T (p.Pro1312=) c.3780A>T (p.Pro1260=) c.3711A>T (p.Pro1237=) | |
6 | g.33164444T>C | CA449867070 | COL11A2 | n.699A>G c.4893A>G (p.Pro1631=) c.4572A>G (p.Pro1524=) c.4635A>G (p.Pro1545=) n.683A>G c.4047A>G (p.Pro1349=) c.4179A>G (p.Pro1393=) c.3999A>G (p.Pro1333=) c.3936A>G (p.Pro1312=) c.3780A>G (p.Pro1260=) c.3711A>G (p.Pro1237=) | ClinVar gnomAD v4 |
6 | g.33164444T>G | CA449867069 | COL11A2 | n.699A>C c.4893A>C (p.Pro1631=) c.4572A>C (p.Pro1524=) c.4635A>C (p.Pro1545=) n.683A>C c.4047A>C (p.Pro1349=) c.4179A>C (p.Pro1393=) c.3999A>C (p.Pro1333=) c.3936A>C (p.Pro1312=) c.3780A>C (p.Pro1260=) c.3711A>C (p.Pro1237=) | |
6 | g.33164445G>A | CA363616545 | COL11A2 | n.698C>T c.4892C>T (p.Pro1631Leu) c.4571C>T (p.Pro1524Leu) c.4634C>T (p.Pro1545Leu) n.682C>T c.4046C>T (p.Pro1349Leu) c.4178C>T (p.Pro1393Leu) c.3998C>T (p.Pro1333Leu) c.3935C>T (p.Pro1312Leu) c.3779C>T (p.Pro1260Leu) c.3710C>T (p.Pro1237Leu) | gnomAD v4 |
6 | g.33164445G>C | CA363616546 | COL11A2 | n.698C>G c.4892C>G (p.Pro1631Arg) c.4571C>G (p.Pro1524Arg) c.4634C>G (p.Pro1545Arg) n.682C>G c.4046C>G (p.Pro1349Arg) c.4178C>G (p.Pro1393Arg) c.3998C>G (p.Pro1333Arg) c.3935C>G (p.Pro1312Arg) c.3779C>G (p.Pro1260Arg) c.3710C>G (p.Pro1237Arg) | |
6 | g.33164445G>T | CA363616549 | COL11A2 | n.698C>A c.4892C>A (p.Pro1631Gln) c.4571C>A (p.Pro1524Gln) c.4634C>A (p.Pro1545Gln) n.682C>A c.4046C>A (p.Pro1349Gln) c.4178C>A (p.Pro1393Gln) c.3998C>A (p.Pro1333Gln) c.3935C>A (p.Pro1312Gln) c.3779C>A (p.Pro1260Gln) c.3710C>A (p.Pro1237Gln) | gnomAD v4 |
6 | g.33164448del | CA2578581069 | COL11A2 | n.698del c.4892del (p.Pro1631GlnfsTer?) c.4571del (p.Pro1524GlnfsTer?) c.4634del (p.Pro1545GlnfsTer?) n.682del c.4046del (p.Pro1349GlnfsTer?) c.4178del (p.Pro1393GlnfsTer?) c.3998del (p.Pro1333GlnfsTer?) c.3935del (p.Pro1312GlnfsTer?) c.3779del (p.Pro1260GlnfsTer?) c.3710del (p.Pro1237GlnfsTer?) | gnomAD v4 |
6 | g.33164446G>A | CA363616556 | COL11A2 | n.697C>T c.4891C>T (p.Pro1631Ser) c.4570C>T (p.Pro1524Ser) c.4633C>T (p.Pro1545Ser) n.681C>T c.4045C>T (p.Pro1349Ser) c.4177C>T (p.Pro1393Ser) c.3997C>T (p.Pro1333Ser) c.3934C>T (p.Pro1312Ser) c.3778C>T (p.Pro1260Ser) c.3709C>T (p.Pro1237Ser) | |
6 | g.33164446G>C | CA363616554 | COL11A2 | n.697C>G c.4891C>G (p.Pro1631Ala) c.4570C>G (p.Pro1524Ala) c.4633C>G (p.Pro1545Ala) n.681C>G c.4045C>G (p.Pro1349Ala) c.4177C>G (p.Pro1393Ala) c.3997C>G (p.Pro1333Ala) c.3934C>G (p.Pro1312Ala) c.3778C>G (p.Pro1260Ala) c.3709C>G (p.Pro1237Ala) | |
6 | g.33164446G>T | CA363616551 | COL11A2 | n.697C>A c.4891C>A (p.Pro1631Thr) c.4570C>A (p.Pro1524Thr) c.4633C>A (p.Pro1545Thr) n.681C>A c.4045C>A (p.Pro1349Thr) c.4177C>A (p.Pro1393Thr) c.3997C>A (p.Pro1333Thr) c.3934C>A (p.Pro1312Thr) c.3778C>A (p.Pro1260Thr) c.3709C>A (p.Pro1237Thr) | gnomAD v4 |
6 | g.33164447G>A | CA449867071 | COL11A2 | n.696C>T c.4890C>T (p.Ser1630=) c.4569C>T (p.Ser1523=) c.4632C>T (p.Ser1544=) n.680C>T c.4044C>T (p.Ser1348=) c.4176C>T (p.Ser1392=) c.3996C>T (p.Ser1332=) c.3933C>T (p.Ser1311=) c.3777C>T (p.Ser1259=) c.3708C>T (p.Ser1236=) | |
6 | g.33164447G>C | CA449867072 | COL11A2 | n.696C>G c.4890C>G (p.Ser1630=) c.4569C>G (p.Ser1523=) c.4632C>G (p.Ser1544=) n.680C>G c.4044C>G (p.Ser1348=) c.4176C>G (p.Ser1392=) c.3996C>G (p.Ser1332=) c.3933C>G (p.Ser1311=) c.3777C>G (p.Ser1259=) c.3708C>G (p.Ser1236=) | dbSNP |
6 | g.33164447G= | CA1619889858 | COL11A2 | n.696C= c.4890C= (p.Ser1630=) c.4569C= (p.Ser1523=) c.4632C= (p.Ser1544=) n.680C= c.4044C= (p.Ser1348=) c.4176C= (p.Ser1392=) c.3996C= (p.Ser1332=) c.3933C= (p.Ser1311=) c.3777C= (p.Ser1259=) c.3708C= (p.Ser1236=) | |
6 | g.33164447G>T | CA449867073 | COL11A2 | n.696C>A c.4890C>A (p.Ser1630=) c.4569C>A (p.Ser1523=) c.4632C>A (p.Ser1544=) n.680C>A c.4044C>A (p.Ser1348=) c.4176C>A (p.Ser1392=) c.3996C>A (p.Ser1332=) c.3933C>A (p.Ser1311=) c.3777C>A (p.Ser1259=) c.3708C>A (p.Ser1236=) | gnomAD v4 |
6 | g.33164448G>A | CA3749961 | COL11A2 | n.695C>T c.4889C>T (p.Ser1630Phe) c.4568C>T (p.Ser1523Phe) c.4631C>T (p.Ser1544Phe) n.679C>T c.4043C>T (p.Ser1348Phe) c.4175C>T (p.Ser1392Phe) c.3995C>T (p.Ser1332Phe) c.3932C>T (p.Ser1311Phe) c.3776C>T (p.Ser1259Phe) c.3707C>T (p.Ser1236Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164448G>C | CA363616560 | COL11A2 | n.695C>G c.4889C>G (p.Ser1630Cys) c.4568C>G (p.Ser1523Cys) c.4631C>G (p.Ser1544Cys) n.679C>G c.4043C>G (p.Ser1348Cys) c.4175C>G (p.Ser1392Cys) c.3995C>G (p.Ser1332Cys) c.3932C>G (p.Ser1311Cys) c.3776C>G (p.Ser1259Cys) c.3707C>G (p.Ser1236Cys) | |
6 | g.33164448G= | CA1619889861 | COL11A2 | n.695C= c.4889C= (p.Ser1630=) c.4568C= (p.Ser1523=) c.4631C= (p.Ser1544=) n.679C= c.4043C= (p.Ser1348=) c.4175C= (p.Ser1392=) c.3995C= (p.Ser1332=) c.3932C= (p.Ser1311=) c.3776C= (p.Ser1259=) c.3707C= (p.Ser1236=) | |
6 | g.33164448G>T | CA363616562 | COL11A2 | n.695C>A c.4889C>A (p.Ser1630Tyr) c.4568C>A (p.Ser1523Tyr) c.4631C>A (p.Ser1544Tyr) n.679C>A c.4043C>A (p.Ser1348Tyr) c.4175C>A (p.Ser1392Tyr) c.3995C>A (p.Ser1332Tyr) c.3932C>A (p.Ser1311Tyr) c.3776C>A (p.Ser1259Tyr) c.3707C>A (p.Ser1236Tyr) | gnomAD v4 |
6 | g.33164449A>C | CA363616565 | COL11A2 | n.694T>G c.4888T>G (p.Ser1630Ala) c.4567T>G (p.Ser1523Ala) c.4630T>G (p.Ser1544Ala) n.678T>G c.4042T>G (p.Ser1348Ala) c.4174T>G (p.Ser1392Ala) c.3994T>G (p.Ser1332Ala) c.3931T>G (p.Ser1311Ala) c.3775T>G (p.Ser1259Ala) c.3706T>G (p.Ser1236Ala) | |
6 | g.33164449A>G | CA363616566 | COL11A2 | n.694T>C c.4888T>C (p.Ser1630Pro) c.4567T>C (p.Ser1523Pro) c.4630T>C (p.Ser1544Pro) n.678T>C c.4042T>C (p.Ser1348Pro) c.4174T>C (p.Ser1392Pro) c.3994T>C (p.Ser1332Pro) c.3931T>C (p.Ser1311Pro) c.3775T>C (p.Ser1259Pro) c.3706T>C (p.Ser1236Pro) | gnomAD v4 |
6 | g.33164449A>T | CA363616568 | COL11A2 | n.694T>A c.4888T>A (p.Ser1630Thr) c.4567T>A (p.Ser1523Thr) c.4630T>A (p.Ser1544Thr) n.678T>A c.4042T>A (p.Ser1348Thr) c.4174T>A (p.Ser1392Thr) c.3994T>A (p.Ser1332Thr) c.3931T>A (p.Ser1311Thr) c.3775T>A (p.Ser1259Thr) c.3706T>A (p.Ser1236Thr) | |
6 | g.33164450G>A | CA449867074 | COL11A2 | n.693C>T c.4887C>T (p.Gly1629=) c.4566C>T (p.Gly1522=) c.4629C>T (p.Gly1543=) n.677C>T c.4041C>T (p.Gly1347=) c.4173C>T (p.Gly1391=) c.3993C>T (p.Gly1331=) c.3930C>T (p.Gly1310=) c.3774C>T (p.Gly1258=) c.3705C>T (p.Gly1235=) | gnomAD v4 |
6 | g.33164450G>C | CA449867075 | COL11A2 | n.693C>G c.4887C>G (p.Gly1629=) c.4566C>G (p.Gly1522=) c.4629C>G (p.Gly1543=) n.677C>G c.4041C>G (p.Gly1347=) c.4173C>G (p.Gly1391=) c.3993C>G (p.Gly1331=) c.3930C>G (p.Gly1310=) c.3774C>G (p.Gly1258=) c.3705C>G (p.Gly1235=) | |
6 | g.33164450G>T | CA449867076 | COL11A2 | n.693C>A c.4887C>A (p.Gly1629=) c.4566C>A (p.Gly1522=) c.4629C>A (p.Gly1543=) n.677C>A c.4041C>A (p.Gly1347=) c.4173C>A (p.Gly1391=) c.3993C>A (p.Gly1331=) c.3930C>A (p.Gly1310=) c.3774C>A (p.Gly1258=) c.3705C>A (p.Gly1235=) | gnomAD v4 |
6 | g.33164451C>A | CA363616574 | COL11A2 | n.692G>T c.4886G>T (p.Gly1629Val) c.4565G>T (p.Gly1522Val) c.4628G>T (p.Gly1543Val) n.676G>T c.4040G>T (p.Gly1347Val) c.4172G>T (p.Gly1391Val) c.3992G>T (p.Gly1331Val) c.3929G>T (p.Gly1310Val) c.3773G>T (p.Gly1258Val) c.3704G>T (p.Gly1235Val) | gnomAD v4 |
6 | g.33164451C= | CA1619889865 | COL11A2 | n.692G= c.4886G= (p.Gly1629=) c.4565G= (p.Gly1522=) c.4628G= (p.Gly1543=) n.676G= c.4040G= (p.Gly1347=) c.4172G= (p.Gly1391=) c.3992G= (p.Gly1331=) c.3929G= (p.Gly1310=) c.3773G= (p.Gly1258=) c.3704G= (p.Gly1235=) | |
6 | g.33164451C>G | CA363616571 | COL11A2 | n.692G>C c.4886G>C (p.Gly1629Ala) c.4565G>C (p.Gly1522Ala) c.4628G>C (p.Gly1543Ala) n.676G>C c.4040G>C (p.Gly1347Ala) c.4172G>C (p.Gly1391Ala) c.3992G>C (p.Gly1331Ala) c.3929G>C (p.Gly1310Ala) c.3773G>C (p.Gly1258Ala) c.3704G>C (p.Gly1235Ala) | gnomAD v4 |
6 | g.33164451C>T | CA363616573 | COL11A2 | n.692G>A c.4886G>A (p.Gly1629Asp) c.4565G>A (p.Gly1522Asp) c.4628G>A (p.Gly1543Asp) n.676G>A c.4040G>A (p.Gly1347Asp) c.4172G>A (p.Gly1391Asp) c.3992G>A (p.Gly1331Asp) c.3929G>A (p.Gly1310Asp) c.3773G>A (p.Gly1258Asp) c.3704G>A (p.Gly1235Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164452C>A | CA363616578 | COL11A2 | n.691G>T c.4885G>T (p.Gly1629Cys) c.4564G>T (p.Gly1522Cys) c.4627G>T (p.Gly1543Cys) n.675G>T c.4039G>T (p.Gly1347Cys) c.4171G>T (p.Gly1391Cys) c.3991G>T (p.Gly1331Cys) c.3928G>T (p.Gly1310Cys) c.3772G>T (p.Gly1258Cys) c.3703G>T (p.Gly1235Cys) | gnomAD v4 |
6 | g.33164452C= | CA1619889869 | COL11A2 | n.691G= c.4885G= (p.Gly1629=) c.4564G= (p.Gly1522=) c.4627G= (p.Gly1543=) n.675G= c.4039G= (p.Gly1347=) c.4171G= (p.Gly1391=) c.3991G= (p.Gly1331=) c.3928G= (p.Gly1310=) c.3772G= (p.Gly1258=) c.3703G= (p.Gly1235=) | |
6 | g.33164452C>G | CA363616580 | COL11A2 | n.691G>C c.4885G>C (p.Gly1629Arg) c.4564G>C (p.Gly1522Arg) c.4627G>C (p.Gly1543Arg) n.675G>C c.4039G>C (p.Gly1347Arg) c.4171G>C (p.Gly1391Arg) c.3991G>C (p.Gly1331Arg) c.3928G>C (p.Gly1310Arg) c.3772G>C (p.Gly1258Arg) c.3703G>C (p.Gly1235Arg) | |
6 | g.33164452C>T | CA363616583 | COL11A2 | n.691G>A c.4885G>A (p.Gly1629Ser) c.4564G>A (p.Gly1522Ser) c.4627G>A (p.Gly1543Ser) n.675G>A c.4039G>A (p.Gly1347Ser) c.4171G>A (p.Gly1391Ser) c.3991G>A (p.Gly1331Ser) c.3928G>A (p.Gly1310Ser) c.3772G>A (p.Gly1258Ser) c.3703G>A (p.Gly1235Ser) | dbSNP gnomAD v2 |
6 | g.33164453C>A | CA363616585 | COL11A2 | n.690G>T c.4884G>T (p.Glu1628Asp) c.4563G>T (p.Glu1521Asp) c.4626G>T (p.Glu1542Asp) n.674G>T c.4038G>T (p.Glu1346Asp) c.4170G>T (p.Glu1390Asp) c.3990G>T (p.Glu1330Asp) c.3927G>T (p.Glu1309Asp) c.3771G>T (p.Glu1257Asp) c.3702G>T (p.Glu1234Asp) | gnomAD v4 |
6 | g.33164453C= | CA1619889875 | COL11A2 | n.690G= c.4884G= (p.Glu1628=) c.4563G= (p.Glu1521=) c.4626G= (p.Glu1542=) n.674G= c.4038G= (p.Glu1346=) c.4170G= (p.Glu1390=) c.3990G= (p.Glu1330=) c.3927G= (p.Glu1309=) c.3771G= (p.Glu1257=) c.3702G= (p.Glu1234=) | |
6 | g.33164453C>G | CA182752 | COL11A2 | n.690G>C c.4884G>C (p.Glu1628Asp) c.4563G>C (p.Glu1521Asp) c.4626G>C (p.Glu1542Asp) n.674G>C c.4038G>C (p.Glu1346Asp) c.4170G>C (p.Glu1390Asp) c.3990G>C (p.Glu1330Asp) c.3927G>C (p.Glu1309Asp) c.3771G>C (p.Glu1257Asp) c.3702G>C (p.Glu1234Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164453C>T | CA449867077 | COL11A2 | n.690G>A c.4884G>A (p.Glu1628=) c.4563G>A (p.Glu1521=) c.4626G>A (p.Glu1542=) n.674G>A c.4038G>A (p.Glu1346=) c.4170G>A (p.Glu1390=) c.3990G>A (p.Glu1330=) c.3927G>A (p.Glu1309=) c.3771G>A (p.Glu1257=) c.3702G>A (p.Glu1234=) | gnomAD v4 |
6 | g.33164454T>A | CA363616588 | COL11A2 | n.689A>T c.4883A>T (p.Glu1628Val) c.4562A>T (p.Glu1521Val) c.4625A>T (p.Glu1542Val) n.673A>T c.4037A>T (p.Glu1346Val) c.4169A>T (p.Glu1390Val) c.3989A>T (p.Glu1330Val) c.3926A>T (p.Glu1309Val) c.3770A>T (p.Glu1257Val) c.3701A>T (p.Glu1234Val) | |
6 | g.33164454T>C | CA363616594 | COL11A2 | n.689A>G c.4883A>G (p.Glu1628Gly) c.4562A>G (p.Glu1521Gly) c.4625A>G (p.Glu1542Gly) n.673A>G c.4037A>G (p.Glu1346Gly) c.4169A>G (p.Glu1390Gly) c.3989A>G (p.Glu1330Gly) c.3926A>G (p.Glu1309Gly) c.3770A>G (p.Glu1257Gly) c.3701A>G (p.Glu1234Gly) | |
6 | g.33164454T>G | CA363616591 | COL11A2 | n.689A>C c.4883A>C (p.Glu1628Ala) c.4562A>C (p.Glu1521Ala) c.4625A>C (p.Glu1542Ala) n.673A>C c.4037A>C (p.Glu1346Ala) c.4169A>C (p.Glu1390Ala) c.3989A>C (p.Glu1330Ala) c.3926A>C (p.Glu1309Ala) c.3770A>C (p.Glu1257Ala) c.3701A>C (p.Glu1234Ala) | |
6 | g.33164455C>A | CA363616595 | COL11A2 | n.688G>T c.4882G>T (p.Glu1628Ter) c.4561G>T (p.Glu1521Ter) c.4624G>T (p.Glu1542Ter) n.672G>T c.4036G>T (p.Glu1346Ter) c.4168G>T (p.Glu1390Ter) c.3988G>T (p.Glu1330Ter) c.3925G>T (p.Glu1309Ter) c.3769G>T (p.Glu1257Ter) c.3700G>T (p.Glu1234Ter) | gnomAD v4 |
6 | g.33164455C>G | CA363616597 | COL11A2 | n.688G>C c.4882G>C (p.Glu1628Gln) c.4561G>C (p.Glu1521Gln) c.4624G>C (p.Glu1542Gln) n.672G>C c.4036G>C (p.Glu1346Gln) c.4168G>C (p.Glu1390Gln) c.3988G>C (p.Glu1330Gln) c.3925G>C (p.Glu1309Gln) c.3769G>C (p.Glu1257Gln) c.3700G>C (p.Glu1234Gln) | |
6 | g.33164455C>T | CA363616599 | COL11A2 | n.688G>A c.4882G>A (p.Glu1628Lys) c.4561G>A (p.Glu1521Lys) c.4624G>A (p.Glu1542Lys) n.672G>A c.4036G>A (p.Glu1346Lys) c.4168G>A (p.Glu1390Lys) c.3988G>A (p.Glu1330Lys) c.3925G>A (p.Glu1309Lys) c.3769G>A (p.Glu1257Lys) c.3700G>A (p.Glu1234Lys) | gnomAD v4 COSMIC |
6 | g.33164456T>A | CA449867078 | COL11A2 | n.687A>T c.4881A>T (p.Ser1627=) c.4560A>T (p.Ser1520=) c.4623A>T (p.Ser1541=) n.671A>T c.4035A>T (p.Ser1345=) c.4167A>T (p.Ser1389=) c.3987A>T (p.Ser1329=) c.3924A>T (p.Ser1308=) c.3768A>T (p.Ser1256=) c.3699A>T (p.Ser1233=) | |
6 | g.33164456T>C | CA449867079 | COL11A2 | n.687A>G c.4881A>G (p.Ser1627=) c.4560A>G (p.Ser1520=) c.4623A>G (p.Ser1541=) n.671A>G c.4035A>G (p.Ser1345=) c.4167A>G (p.Ser1389=) c.3987A>G (p.Ser1329=) c.3924A>G (p.Ser1308=) c.3768A>G (p.Ser1256=) c.3699A>G (p.Ser1233=) | ClinVar |
6 | g.33164456T>G | CA449867080 | COL11A2 | n.687A>C c.4881A>C (p.Ser1627=) c.4560A>C (p.Ser1520=) c.4623A>C (p.Ser1541=) n.671A>C c.4035A>C (p.Ser1345=) c.4167A>C (p.Ser1389=) c.3987A>C (p.Ser1329=) c.3924A>C (p.Ser1308=) c.3768A>C (p.Ser1256=) c.3699A>C (p.Ser1233=) | |
6 | g.33164457G>A | CA3749962 | COL11A2 | n.686C>T c.4880C>T (p.Ser1627Leu) c.4559C>T (p.Ser1520Leu) c.4622C>T (p.Ser1541Leu) n.670C>T c.4034C>T (p.Ser1345Leu) c.4166C>T (p.Ser1389Leu) c.3986C>T (p.Ser1329Leu) c.3923C>T (p.Ser1308Leu) c.3767C>T (p.Ser1256Leu) c.3698C>T (p.Ser1233Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164457G>C | CA363616602 | COL11A2 | n.686C>G c.4880C>G (p.Ser1627Ter) c.4559C>G (p.Ser1520Ter) c.4622C>G (p.Ser1541Ter) n.670C>G c.4034C>G (p.Ser1345Ter) c.4166C>G (p.Ser1389Ter) c.3986C>G (p.Ser1329Ter) c.3923C>G (p.Ser1308Ter) c.3767C>G (p.Ser1256Ter) c.3698C>G (p.Ser1233Ter) | |
6 | g.33164457G= | CA1619889879 | COL11A2 | n.686C= c.4880C= (p.Ser1627=) c.4559C= (p.Ser1520=) c.4622C= (p.Ser1541=) n.670C= c.4034C= (p.Ser1345=) c.4166C= (p.Ser1389=) c.3986C= (p.Ser1329=) c.3923C= (p.Ser1308=) c.3767C= (p.Ser1256=) c.3698C= (p.Ser1233=) | |
6 | g.33164457G>T | CA363616605 | COL11A2 | n.686C>A c.4880C>A (p.Ser1627Ter) c.4559C>A (p.Ser1520Ter) c.4622C>A (p.Ser1541Ter) n.670C>A c.4034C>A (p.Ser1345Ter) c.4166C>A (p.Ser1389Ter) c.3986C>A (p.Ser1329Ter) c.3923C>A (p.Ser1308Ter) c.3767C>A (p.Ser1256Ter) c.3698C>A (p.Ser1233Ter) | gnomAD v4 |
6 | g.33164458A>C | CA363616607 | COL11A2 | n.685T>G c.4879T>G (p.Ser1627Ala) c.4558T>G (p.Ser1520Ala) c.4621T>G (p.Ser1541Ala) n.669T>G c.4033T>G (p.Ser1345Ala) c.4165T>G (p.Ser1389Ala) c.3985T>G (p.Ser1329Ala) c.3922T>G (p.Ser1308Ala) c.3766T>G (p.Ser1256Ala) c.3697T>G (p.Ser1233Ala) | ClinVar dbSNP |
6 | g.33164458A>G | CA363616609 | COL11A2 | n.685T>C c.4879T>C (p.Ser1627Pro) c.4558T>C (p.Ser1520Pro) c.4621T>C (p.Ser1541Pro) n.669T>C c.4033T>C (p.Ser1345Pro) c.4165T>C (p.Ser1389Pro) c.3985T>C (p.Ser1329Pro) c.3922T>C (p.Ser1308Pro) c.3766T>C (p.Ser1256Pro) c.3697T>C (p.Ser1233Pro) | |
6 | g.33164458A>T | CA363616610 | COL11A2 | n.685T>A c.4879T>A (p.Ser1627Thr) c.4558T>A (p.Ser1520Thr) c.4621T>A (p.Ser1541Thr) n.669T>A c.4033T>A (p.Ser1345Thr) c.4165T>A (p.Ser1389Thr) c.3985T>A (p.Ser1329Thr) c.3922T>A (p.Ser1308Thr) c.3766T>A (p.Ser1256Thr) c.3697T>A (p.Ser1233Thr) | |
6 | g.33164459G>A | CA449867081 | COL11A2 | n.684C>T c.4878C>T (p.Asp1626=) c.4557C>T (p.Asp1519=) c.4620C>T (p.Asp1540=) n.668C>T c.4032C>T (p.Asp1344=) c.4164C>T (p.Asp1388=) c.3984C>T (p.Asp1328=) c.3921C>T (p.Asp1307=) c.3765C>T (p.Asp1255=) c.3696C>T (p.Asp1232=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164459G>C | CA363616613 | COL11A2 | n.684C>G c.4878C>G (p.Asp1626Glu) c.4557C>G (p.Asp1519Glu) c.4620C>G (p.Asp1540Glu) n.668C>G c.4032C>G (p.Asp1344Glu) c.4164C>G (p.Asp1388Glu) c.3984C>G (p.Asp1328Glu) c.3921C>G (p.Asp1307Glu) c.3765C>G (p.Asp1255Glu) c.3696C>G (p.Asp1232Glu) | |
6 | g.33164459G= | CA1619889882 | COL11A2 | n.684C= c.4878C= (p.Asp1626=) c.4557C= (p.Asp1519=) c.4620C= (p.Asp1540=) n.668C= c.4032C= (p.Asp1344=) c.4164C= (p.Asp1388=) c.3984C= (p.Asp1328=) c.3921C= (p.Asp1307=) c.3765C= (p.Asp1255=) c.3696C= (p.Asp1232=) | |
6 | g.33164459G>T | CA363616615 | COL11A2 | n.684C>A c.4878C>A (p.Asp1626Glu) c.4557C>A (p.Asp1519Glu) c.4620C>A (p.Asp1540Glu) n.668C>A c.4032C>A (p.Asp1344Glu) c.4164C>A (p.Asp1388Glu) c.3984C>A (p.Asp1328Glu) c.3921C>A (p.Asp1307Glu) c.3765C>A (p.Asp1255Glu) c.3696C>A (p.Asp1232Glu) | COSMIC |
6 | g.33164461_33164466del | CA2578581070 | COL11A2 | n.679_684del c.4873_4878del (p.Val1625_Asp1626del) c.4552_4557del (p.Val1518_Asp1519del) c.4615_4620del (p.Val1539_Asp1540del) n.663_668del c.4027_4032del (p.Val1343_Asp1344del) c.4159_4164del (p.Val1387_Asp1388del) c.3979_3984del (p.Val1327_Asp1328del) c.3916_3921del (p.Val1306_Asp1307del) c.3760_3765del (p.Val1254_Asp1255del) c.3691_3696del (p.Val1231_Asp1232del) | |
6 | g.33164460T>A | CA363616620 | COL11A2 | n.683A>T c.4877A>T (p.Asp1626Val) c.4556A>T (p.Asp1519Val) c.4619A>T (p.Asp1540Val) n.667A>T c.4031A>T (p.Asp1344Val) c.4163A>T (p.Asp1388Val) c.3983A>T (p.Asp1328Val) c.3920A>T (p.Asp1307Val) c.3764A>T (p.Asp1255Val) c.3695A>T (p.Asp1232Val) | |
6 | g.33164460T>C | CA363616622 | COL11A2 | n.683A>G c.4877A>G (p.Asp1626Gly) c.4556A>G (p.Asp1519Gly) c.4619A>G (p.Asp1540Gly) n.667A>G c.4031A>G (p.Asp1344Gly) c.4163A>G (p.Asp1388Gly) c.3983A>G (p.Asp1328Gly) c.3920A>G (p.Asp1307Gly) c.3764A>G (p.Asp1255Gly) c.3695A>G (p.Asp1232Gly) | gnomAD v4 |
6 | g.33164460T>G | CA363616618 | COL11A2 | n.683A>C c.4877A>C (p.Asp1626Ala) c.4556A>C (p.Asp1519Ala) c.4619A>C (p.Asp1540Ala) n.667A>C c.4031A>C (p.Asp1344Ala) c.4163A>C (p.Asp1388Ala) c.3983A>C (p.Asp1328Ala) c.3920A>C (p.Asp1307Ala) c.3764A>C (p.Asp1255Ala) c.3695A>C (p.Asp1232Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164460T= | CA1619889889 | COL11A2 | n.683A= c.4877A= (p.Asp1626=) c.4556A= (p.Asp1519=) c.4619A= (p.Asp1540=) n.667A= c.4031A= (p.Asp1344=) c.4163A= (p.Asp1388=) c.3983A= (p.Asp1328=) c.3920A= (p.Asp1307=) c.3764A= (p.Asp1255=) c.3695A= (p.Asp1232=) | |
6 | g.33164461C>A | CA363616624 | COL11A2 | n.682G>T c.4876G>T (p.Asp1626Tyr) c.4555G>T (p.Asp1519Tyr) c.4618G>T (p.Asp1540Tyr) n.666G>T c.4030G>T (p.Asp1344Tyr) c.4162G>T (p.Asp1388Tyr) c.3982G>T (p.Asp1328Tyr) c.3919G>T (p.Asp1307Tyr) c.3763G>T (p.Asp1255Tyr) c.3694G>T (p.Asp1232Tyr) | gnomAD v4 |
6 | g.33164461C>G | CA363616629 | COL11A2 | n.682G>C c.4876G>C (p.Asp1626His) c.4555G>C (p.Asp1519His) c.4618G>C (p.Asp1540His) n.666G>C c.4030G>C (p.Asp1344His) c.4162G>C (p.Asp1388His) c.3982G>C (p.Asp1328His) c.3919G>C (p.Asp1307His) c.3763G>C (p.Asp1255His) c.3694G>C (p.Asp1232His) | gnomAD v4 |
6 | g.33164461C>T | CA363616627 | COL11A2 | n.682G>A c.4876G>A (p.Asp1626Asn) c.4555G>A (p.Asp1519Asn) c.4618G>A (p.Asp1540Asn) n.666G>A c.4030G>A (p.Asp1344Asn) c.4162G>A (p.Asp1388Asn) c.3982G>A (p.Asp1328Asn) c.3919G>A (p.Asp1307Asn) c.3763G>A (p.Asp1255Asn) c.3694G>A (p.Asp1232Asn) | |
6 | g.33164462C>A | CA449867082 | COL11A2 | n.681G>T c.4875G>T (p.Val1625=) c.4554G>T (p.Val1518=) c.4617G>T (p.Val1539=) n.665G>T c.4029G>T (p.Val1343=) c.4161G>T (p.Val1387=) c.3981G>T (p.Val1327=) c.3918G>T (p.Val1306=) c.3762G>T (p.Val1254=) c.3693G>T (p.Val1231=) | gnomAD v4 |
6 | g.33164462C>G | CA449867083 | COL11A2 | n.681G>C c.4875G>C (p.Val1625=) c.4554G>C (p.Val1518=) c.4617G>C (p.Val1539=) n.665G>C c.4029G>C (p.Val1343=) c.4161G>C (p.Val1387=) c.3981G>C (p.Val1327=) c.3918G>C (p.Val1306=) c.3762G>C (p.Val1254=) c.3693G>C (p.Val1231=) | |
6 | g.33164462C>T | CA449867084 | COL11A2 | n.681G>A c.4875G>A (p.Val1625=) c.4554G>A (p.Val1518=) c.4617G>A (p.Val1539=) n.665G>A c.4029G>A (p.Val1343=) c.4161G>A (p.Val1387=) c.3981G>A (p.Val1327=) c.3918G>A (p.Val1306=) c.3762G>A (p.Val1254=) c.3693G>A (p.Val1231=) | gnomAD v4 |
6 | g.33164463A>C | CA363616632 | COL11A2 | n.680T>G c.4874T>G (p.Val1625Gly) c.4553T>G (p.Val1518Gly) c.4616T>G (p.Val1539Gly) n.664T>G c.4028T>G (p.Val1343Gly) c.4160T>G (p.Val1387Gly) c.3980T>G (p.Val1327Gly) c.3917T>G (p.Val1306Gly) c.3761T>G (p.Val1254Gly) c.3692T>G (p.Val1231Gly) | |
6 | g.33164463A>G | CA363616637 | COL11A2 | n.680T>C c.4874T>C (p.Val1625Ala) c.4553T>C (p.Val1518Ala) c.4616T>C (p.Val1539Ala) n.664T>C c.4028T>C (p.Val1343Ala) c.4160T>C (p.Val1387Ala) c.3980T>C (p.Val1327Ala) c.3917T>C (p.Val1306Ala) c.3761T>C (p.Val1254Ala) c.3692T>C (p.Val1231Ala) | gnomAD v4 |
6 | g.33164463A>T | CA363616634 | COL11A2 | n.680T>A c.4874T>A (p.Val1625Glu) c.4553T>A (p.Val1518Glu) c.4616T>A (p.Val1539Glu) n.664T>A c.4028T>A (p.Val1343Glu) c.4160T>A (p.Val1387Glu) c.3980T>A (p.Val1327Glu) c.3917T>A (p.Val1306Glu) c.3761T>A (p.Val1254Glu) c.3692T>A (p.Val1231Glu) | gnomAD v4 |
6 | g.33164464C>A | CA363616639 | COL11A2 | n.679G>T c.4873G>T (p.Val1625Leu) c.4552G>T (p.Val1518Leu) c.4615G>T (p.Val1539Leu) n.663G>T c.4027G>T (p.Val1343Leu) c.4159G>T (p.Val1387Leu) c.3979G>T (p.Val1327Leu) c.3916G>T (p.Val1306Leu) c.3760G>T (p.Val1254Leu) c.3691G>T (p.Val1231Leu) | gnomAD v4 |
6 | g.33164464C= | CA1619889894 | COL11A2 | n.679G= c.4873G= (p.Val1625=) c.4552G= (p.Val1518=) c.4615G= (p.Val1539=) n.663G= c.4027G= (p.Val1343=) c.4159G= (p.Val1387=) c.3979G= (p.Val1327=) c.3916G= (p.Val1306=) c.3760G= (p.Val1254=) c.3691G= (p.Val1231=) | |
6 | g.33164464C>G | CA363616642 | COL11A2 | n.679G>C c.4873G>C (p.Val1625Leu) c.4552G>C (p.Val1518Leu) c.4615G>C (p.Val1539Leu) n.663G>C c.4027G>C (p.Val1343Leu) c.4159G>C (p.Val1387Leu) c.3979G>C (p.Val1327Leu) c.3916G>C (p.Val1306Leu) c.3760G>C (p.Val1254Leu) c.3691G>C (p.Val1231Leu) | ClinVar |
6 | g.33164464C>T | CA3749963 | COL11A2 | n.679G>A c.4873G>A (p.Val1625Met) c.4552G>A (p.Val1518Met) c.4615G>A (p.Val1539Met) n.663G>A c.4027G>A (p.Val1343Met) c.4159G>A (p.Val1387Met) c.3979G>A (p.Val1327Met) c.3916G>A (p.Val1306Met) c.3760G>A (p.Val1254Met) c.3691G>A (p.Val1231Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164465G>A | CA3749964 | COL11A2 | n.678C>T c.4872C>T (p.Tyr1624=) c.4551C>T (p.Tyr1517=) c.4614C>T (p.Tyr1538=) n.662C>T c.4026C>T (p.Tyr1342=) c.4158C>T (p.Tyr1386=) c.3978C>T (p.Tyr1326=) c.3915C>T (p.Tyr1305=) c.3759C>T (p.Tyr1253=) c.3690C>T (p.Tyr1230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164465G>C | CA363616647 | COL11A2 | n.678C>G c.4872C>G (p.Tyr1624Ter) c.4551C>G (p.Tyr1517Ter) c.4614C>G (p.Tyr1538Ter) n.662C>G c.4026C>G (p.Tyr1342Ter) c.4158C>G (p.Tyr1386Ter) c.3978C>G (p.Tyr1326Ter) c.3915C>G (p.Tyr1305Ter) c.3759C>G (p.Tyr1253Ter) c.3690C>G (p.Tyr1230Ter) | |
6 | g.33164465G= | CA1619889901 | COL11A2 | n.678C= c.4872C= (p.Tyr1624=) c.4551C= (p.Tyr1517=) c.4614C= (p.Tyr1538=) n.662C= c.4026C= (p.Tyr1342=) c.4158C= (p.Tyr1386=) c.3978C= (p.Tyr1326=) c.3915C= (p.Tyr1305=) c.3759C= (p.Tyr1253=) c.3690C= (p.Tyr1230=) | |
6 | g.33164465G>T | CA363616650 | COL11A2 | n.678C>A c.4872C>A (p.Tyr1624Ter) c.4551C>A (p.Tyr1517Ter) c.4614C>A (p.Tyr1538Ter) n.662C>A c.4026C>A (p.Tyr1342Ter) c.4158C>A (p.Tyr1386Ter) c.3978C>A (p.Tyr1326Ter) c.3915C>A (p.Tyr1305Ter) c.3759C>A (p.Tyr1253Ter) c.3690C>A (p.Tyr1230Ter) | |
6 | g.33164466T>A | CA363616652 | COL11A2 | n.677A>T c.4871A>T (p.Tyr1624Phe) c.4550A>T (p.Tyr1517Phe) c.4613A>T (p.Tyr1538Phe) n.661A>T c.4025A>T (p.Tyr1342Phe) c.4157A>T (p.Tyr1386Phe) c.3977A>T (p.Tyr1326Phe) c.3914A>T (p.Tyr1305Phe) c.3758A>T (p.Tyr1253Phe) c.3689A>T (p.Tyr1230Phe) | COSMIC |
6 | g.33164466T>C | CA363616654 | COL11A2 | n.677A>G c.4871A>G (p.Tyr1624Cys) c.4550A>G (p.Tyr1517Cys) c.4613A>G (p.Tyr1538Cys) n.661A>G c.4025A>G (p.Tyr1342Cys) c.4157A>G (p.Tyr1386Cys) c.3977A>G (p.Tyr1326Cys) c.3914A>G (p.Tyr1305Cys) c.3758A>G (p.Tyr1253Cys) c.3689A>G (p.Tyr1230Cys) | |
6 | g.33164466T>G | CA363616656 | COL11A2 | n.677A>C c.4871A>C (p.Tyr1624Ser) c.4550A>C (p.Tyr1517Ser) c.4613A>C (p.Tyr1538Ser) n.661A>C c.4025A>C (p.Tyr1342Ser) c.4157A>C (p.Tyr1386Ser) c.3977A>C (p.Tyr1326Ser) c.3914A>C (p.Tyr1305Ser) c.3758A>C (p.Tyr1253Ser) c.3689A>C (p.Tyr1230Ser) | |
6 | g.33164467A>C | CA363616664 | COL11A2 | n.676T>G c.4870T>G (p.Tyr1624Asp) c.4549T>G (p.Tyr1517Asp) c.4612T>G (p.Tyr1538Asp) n.660T>G c.4024T>G (p.Tyr1342Asp) c.4156T>G (p.Tyr1386Asp) c.3976T>G (p.Tyr1326Asp) c.3913T>G (p.Tyr1305Asp) c.3757T>G (p.Tyr1253Asp) c.3688T>G (p.Tyr1230Asp) | |
6 | g.33164467A>G | CA363616661 | COL11A2 | n.676T>C c.4870T>C (p.Tyr1624His) c.4549T>C (p.Tyr1517His) c.4612T>C (p.Tyr1538His) n.660T>C c.4024T>C (p.Tyr1342His) c.4156T>C (p.Tyr1386His) c.3976T>C (p.Tyr1326His) c.3913T>C (p.Tyr1305His) c.3757T>C (p.Tyr1253His) c.3688T>C (p.Tyr1230His) | gnomAD v4 |
6 | g.33164467A>T | CA363616660 | COL11A2 | n.676T>A c.4870T>A (p.Tyr1624Asn) c.4549T>A (p.Tyr1517Asn) c.4612T>A (p.Tyr1538Asn) n.660T>A c.4024T>A (p.Tyr1342Asn) c.4156T>A (p.Tyr1386Asn) c.3976T>A (p.Tyr1326Asn) c.3913T>A (p.Tyr1305Asn) c.3757T>A (p.Tyr1253Asn) c.3688T>A (p.Tyr1230Asn) | |
6 | g.33164468A= | CA1619889903 | COL11A2 | n.675T= c.4869T= (p.Ser1623=) c.4548T= (p.Ser1516=) c.4611T= (p.Ser1537=) n.659T= c.4023T= (p.Ser1341=) c.4155T= (p.Ser1385=) c.3975T= (p.Ser1325=) c.3912T= (p.Ser1304=) c.3756T= (p.Ser1252=) c.3687T= (p.Ser1229=) | |
6 | g.33164468A>C | CA449867085 | COL11A2 | n.675T>G c.4869T>G (p.Ser1623=) c.4548T>G (p.Ser1516=) c.4611T>G (p.Ser1537=) n.659T>G c.4023T>G (p.Ser1341=) c.4155T>G (p.Ser1385=) c.3975T>G (p.Ser1325=) c.3912T>G (p.Ser1304=) c.3756T>G (p.Ser1252=) c.3687T>G (p.Ser1229=) | |
6 | g.33164468A>G | CA449867086 | COL11A2 | n.675T>C c.4869T>C (p.Ser1623=) c.4548T>C (p.Ser1516=) c.4611T>C (p.Ser1537=) n.659T>C c.4023T>C (p.Ser1341=) c.4155T>C (p.Ser1385=) c.3975T>C (p.Ser1325=) c.3912T>C (p.Ser1304=) c.3756T>C (p.Ser1252=) c.3687T>C (p.Ser1229=) | ClinVar dbSNP gnomAD v4 |
6 | g.33164468A>T | CA449867087 | COL11A2 | n.675T>A c.4869T>A (p.Ser1623=) c.4548T>A (p.Ser1516=) c.4611T>A (p.Ser1537=) n.659T>A c.4023T>A (p.Ser1341=) c.4155T>A (p.Ser1385=) c.3975T>A (p.Ser1325=) c.3912T>A (p.Ser1304=) c.3756T>A (p.Ser1252=) c.3687T>A (p.Ser1229=) | |
6 | g.33164469G>A | CA363616667 | COL11A2 | n.674C>T c.4868C>T (p.Ser1623Phe) c.4547C>T (p.Ser1516Phe) c.4610C>T (p.Ser1537Phe) n.658C>T c.4022C>T (p.Ser1341Phe) c.4154C>T (p.Ser1385Phe) c.3974C>T (p.Ser1325Phe) c.3911C>T (p.Ser1304Phe) c.3755C>T (p.Ser1252Phe) c.3686C>T (p.Ser1229Phe) | |
6 | g.33164469G>C | CA363616669 | COL11A2 | n.674C>G c.4868C>G (p.Ser1623Cys) c.4547C>G (p.Ser1516Cys) c.4610C>G (p.Ser1537Cys) n.658C>G c.4022C>G (p.Ser1341Cys) c.4154C>G (p.Ser1385Cys) c.3974C>G (p.Ser1325Cys) c.3911C>G (p.Ser1304Cys) c.3755C>G (p.Ser1252Cys) c.3686C>G (p.Ser1229Cys) | dbSNP |
6 | g.33164469G>T | CA363616671 | COL11A2 | n.674C>A c.4868C>A (p.Ser1623Tyr) c.4547C>A (p.Ser1516Tyr) c.4610C>A (p.Ser1537Tyr) n.658C>A c.4022C>A (p.Ser1341Tyr) c.4154C>A (p.Ser1385Tyr) c.3974C>A (p.Ser1325Tyr) c.3911C>A (p.Ser1304Tyr) c.3755C>A (p.Ser1252Tyr) c.3686C>A (p.Ser1229Tyr) | gnomAD v4 |
6 | g.33164470A>C | CA363616673 | COL11A2 | n.673T>G c.4867T>G (p.Ser1623Ala) c.4546T>G (p.Ser1516Ala) c.4609T>G (p.Ser1537Ala) n.657T>G c.4021T>G (p.Ser1341Ala) c.4153T>G (p.Ser1385Ala) c.3973T>G (p.Ser1325Ala) c.3910T>G (p.Ser1304Ala) c.3754T>G (p.Ser1252Ala) c.3685T>G (p.Ser1229Ala) | |
6 | g.33164470A>G | CA363616676 | COL11A2 | n.673T>C c.4867T>C (p.Ser1623Pro) c.4546T>C (p.Ser1516Pro) c.4609T>C (p.Ser1537Pro) n.657T>C c.4021T>C (p.Ser1341Pro) c.4153T>C (p.Ser1385Pro) c.3973T>C (p.Ser1325Pro) c.3910T>C (p.Ser1304Pro) c.3754T>C (p.Ser1252Pro) c.3685T>C (p.Ser1229Pro) | gnomAD v4 |
6 | g.33164470A>T | CA363616679 | COL11A2 | n.673T>A c.4867T>A (p.Ser1623Thr) c.4546T>A (p.Ser1516Thr) c.4609T>A (p.Ser1537Thr) n.657T>A c.4021T>A (p.Ser1341Thr) c.4153T>A (p.Ser1385Thr) c.3973T>A (p.Ser1325Thr) c.3910T>A (p.Ser1304Thr) c.3754T>A (p.Ser1252Thr) c.3685T>A (p.Ser1229Thr) | |
6 | g.33164471G>A | CA449867088 | COL11A2 | n.672C>T c.4866C>T (p.Phe1622=) c.4545C>T (p.Phe1515=) c.4608C>T (p.Phe1536=) n.656C>T c.4020C>T (p.Phe1340=) c.4152C>T (p.Phe1384=) c.3972C>T (p.Phe1324=) c.3909C>T (p.Phe1303=) c.3753C>T (p.Phe1251=) c.3684C>T (p.Phe1228=) | |
6 | g.33164471G>C | CA363616682 | COL11A2 | n.672C>G c.4866C>G (p.Phe1622Leu) c.4545C>G (p.Phe1515Leu) c.4608C>G (p.Phe1536Leu) n.656C>G c.4020C>G (p.Phe1340Leu) c.4152C>G (p.Phe1384Leu) c.3972C>G (p.Phe1324Leu) c.3909C>G (p.Phe1303Leu) c.3753C>G (p.Phe1251Leu) c.3684C>G (p.Phe1228Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164471G= | CA1619889907 | COL11A2 | n.672C= c.4866C= (p.Phe1622=) c.4545C= (p.Phe1515=) c.4608C= (p.Phe1536=) n.656C= c.4020C= (p.Phe1340=) c.4152C= (p.Phe1384=) c.3972C= (p.Phe1324=) c.3909C= (p.Phe1303=) c.3753C= (p.Phe1251=) c.3684C= (p.Phe1228=) | |
6 | g.33164471G>T | CA363616684 | COL11A2 | n.672C>A c.4866C>A (p.Phe1622Leu) c.4545C>A (p.Phe1515Leu) c.4608C>A (p.Phe1536Leu) n.656C>A c.4020C>A (p.Phe1340Leu) c.4152C>A (p.Phe1384Leu) c.3972C>A (p.Phe1324Leu) c.3909C>A (p.Phe1303Leu) c.3753C>A (p.Phe1251Leu) c.3684C>A (p.Phe1228Leu) | COSMIC |
6 | g.33164472A>C | CA363616686 | COL11A2 | n.671T>G c.4865T>G (p.Phe1622Cys) c.4544T>G (p.Phe1515Cys) c.4607T>G (p.Phe1536Cys) n.655T>G c.4019T>G (p.Phe1340Cys) c.4151T>G (p.Phe1384Cys) c.3971T>G (p.Phe1324Cys) c.3908T>G (p.Phe1303Cys) c.3752T>G (p.Phe1251Cys) c.3683T>G (p.Phe1228Cys) | |
6 | g.33164472A>G | CA363616689 | COL11A2 | n.671T>C c.4865T>C (p.Phe1622Ser) c.4544T>C (p.Phe1515Ser) c.4607T>C (p.Phe1536Ser) n.655T>C c.4019T>C (p.Phe1340Ser) c.4151T>C (p.Phe1384Ser) c.3971T>C (p.Phe1324Ser) c.3908T>C (p.Phe1303Ser) c.3752T>C (p.Phe1251Ser) c.3683T>C (p.Phe1228Ser) | COSMIC |
6 | g.33164472A>T | CA363616691 | COL11A2 | n.671T>A c.4865T>A (p.Phe1622Tyr) c.4544T>A (p.Phe1515Tyr) c.4607T>A (p.Phe1536Tyr) n.655T>A c.4019T>A (p.Phe1340Tyr) c.4151T>A (p.Phe1384Tyr) c.3971T>A (p.Phe1324Tyr) c.3908T>A (p.Phe1303Tyr) c.3752T>A (p.Phe1251Tyr) c.3683T>A (p.Phe1228Tyr) | |
6 | g.33164473A>C | CA363616697 | COL11A2 | n.670T>G c.4864T>G (p.Phe1622Val) c.4543T>G (p.Phe1515Val) c.4606T>G (p.Phe1536Val) n.654T>G c.4018T>G (p.Phe1340Val) c.4150T>G (p.Phe1384Val) c.3970T>G (p.Phe1324Val) c.3907T>G (p.Phe1303Val) c.3751T>G (p.Phe1251Val) c.3682T>G (p.Phe1228Val) | |
6 | g.33164473A>G | CA363616698 | COL11A2 | n.670T>C c.4864T>C (p.Phe1622Leu) c.4543T>C (p.Phe1515Leu) c.4606T>C (p.Phe1536Leu) n.654T>C c.4018T>C (p.Phe1340Leu) c.4150T>C (p.Phe1384Leu) c.3970T>C (p.Phe1324Leu) c.3907T>C (p.Phe1303Leu) c.3751T>C (p.Phe1251Leu) c.3682T>C (p.Phe1228Leu) | |
6 | g.33164473A>T | CA363616694 | COL11A2 | n.670T>A c.4864T>A (p.Phe1622Ile) c.4543T>A (p.Phe1515Ile) c.4606T>A (p.Phe1536Ile) n.654T>A c.4018T>A (p.Phe1340Ile) c.4150T>A (p.Phe1384Ile) c.3970T>A (p.Phe1324Ile) c.3907T>A (p.Phe1303Ile) c.3751T>A (p.Phe1251Ile) c.3682T>A (p.Phe1228Ile) | |
6 | g.33164474C>A | CA363616700 | COL11A2 | n.670-1G>T c.4864-1G>T (n.4864-1G>T) c.4543-1G>T (n.4543-1G>T) c.4606-1G>T (n.4606-1G>T) n.654-1G>T c.4018-1G>T (n.4018-1G>T) c.4150-1G>T (n.4150-1G>T) c.3970-1G>T (n.3970-1G>T) c.3907-1G>T (n.3907-1G>T) c.3751-1G>T (n.3751-1G>T) c.3682-1G>T (n.3682-1G>T) | gnomAD v4 |
6 | g.33164474C>G | CA363616702 | COL11A2 | n.670-1G>C c.4864-1G>C (n.4864-1G>C) c.4543-1G>C (n.4543-1G>C) c.4606-1G>C (n.4606-1G>C) n.654-1G>C c.4018-1G>C (n.4018-1G>C) c.4150-1G>C (n.4150-1G>C) c.3970-1G>C (n.3970-1G>C) c.3907-1G>C (n.3907-1G>C) c.3751-1G>C (n.3751-1G>C) c.3682-1G>C (n.3682-1G>C) | ClinVar |
6 | g.33164474C>T | CA363616704 | COL11A2 | n.670-1G>A c.4864-1G>A (n.4864-1G>A) c.4543-1G>A (n.4543-1G>A) c.4606-1G>A (n.4606-1G>A) n.654-1G>A c.4018-1G>A (n.4018-1G>A) c.4150-1G>A (n.4150-1G>A) c.3970-1G>A (n.3970-1G>A) c.3907-1G>A (n.3907-1G>A) c.3751-1G>A (n.3751-1G>A) c.3682-1G>A (n.3682-1G>A) | |
6 | g.33164475T>A | CA363616707 | COL11A2 | n.670-2A>T c.4864-2A>T (n.4864-2A>T) c.4543-2A>T (n.4543-2A>T) c.4606-2A>T (n.4606-2A>T) n.654-2A>T c.4018-2A>T (n.4018-2A>T) c.4150-2A>T (n.4150-2A>T) c.3970-2A>T (n.3970-2A>T) c.3907-2A>T (n.3907-2A>T) c.3751-2A>T (n.3751-2A>T) c.3682-2A>T (n.3682-2A>T) | |
6 | g.33164475T>C | CA363616716 | COL11A2 | n.670-2A>G c.4864-2A>G (n.4864-2A>G) c.4543-2A>G (n.4543-2A>G) c.4606-2A>G (n.4606-2A>G) n.654-2A>G c.4018-2A>G (n.4018-2A>G) c.4150-2A>G (n.4150-2A>G) c.3970-2A>G (n.3970-2A>G) c.3907-2A>G (n.3907-2A>G) c.3751-2A>G (n.3751-2A>G) c.3682-2A>G (n.3682-2A>G) | |
6 | g.33164475T>G | CA363616719 | COL11A2 | n.670-2A>C c.4864-2A>C (n.4864-2A>C) c.4543-2A>C (n.4543-2A>C) c.4606-2A>C (n.4606-2A>C) n.654-2A>C c.4018-2A>C (n.4018-2A>C) c.4150-2A>C (n.4150-2A>C) c.3970-2A>C (n.3970-2A>C) c.3907-2A>C (n.3907-2A>C) c.3751-2A>C (n.3751-2A>C) c.3682-2A>C (n.3682-2A>C) | |
6 | g.33164476G>A | CA2499981840 | COL11A2 | n.670-3C>T c.4864-3C>T (n.4864-3C>T) c.4543-3C>T (n.4543-3C>T) c.4606-3C>T (n.4606-3C>T) n.654-3C>T c.4018-3C>T (n.4018-3C>T) c.4150-3C>T (n.4150-3C>T) c.3970-3C>T (n.3970-3C>T) c.3907-3C>T (n.3907-3C>T) c.3751-3C>T (n.3751-3C>T) c.3682-3C>T (n.3682-3C>T) | gnomAD v4 |
6 | g.33164477G>A | CA2504784716 | COL11A2 | n.670-4C>T c.4864-4C>T (n.4864-4C>T) c.4543-4C>T (n.4543-4C>T) c.4606-4C>T (n.4606-4C>T) n.654-4C>T c.4018-4C>T (n.4018-4C>T) c.4150-4C>T (n.4150-4C>T) c.3970-4C>T (n.3970-4C>T) c.3907-4C>T (n.3907-4C>T) c.3751-4C>T (n.3751-4C>T) c.3682-4C>T (n.3682-4C>T) | |
6 | g.33164477G= | CA1619889912 | COL11A2 | n.670-4C= c.4864-4C= (n.4864-4C=) c.4543-4C= (n.4543-4C=) c.4606-4C= (n.4606-4C=) n.654-4C= c.4018-4C= (n.4018-4C=) c.4150-4C= (n.4150-4C=) c.3970-4C= (n.3970-4C=) c.3907-4C= (n.3907-4C=) c.3751-4C= (n.3751-4C=) c.3682-4C= (n.3682-4C=) | |
6 | g.33164477G>T | CA3749965 | COL11A2 | n.670-4C>A c.4864-4C>A (n.4864-4C>A) c.4543-4C>A (n.4543-4C>A) c.4606-4C>A (n.4606-4C>A) n.654-4C>A c.4018-4C>A (n.4018-4C>A) c.4150-4C>A (n.4150-4C>A) c.3970-4C>A (n.3970-4C>A) c.3907-4C>A (n.3907-4C>A) c.3751-4C>A (n.3751-4C>A) c.3682-4C>A (n.3682-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164478A>C | CA2739273021 | COL11A2 | n.670-5T>G c.4864-5T>G (n.4864-5T>G) c.4543-5T>G (n.4543-5T>G) c.4606-5T>G (n.4606-5T>G) n.654-5T>G c.4018-5T>G (n.4018-5T>G) c.4150-5T>G (n.4150-5T>G) c.3970-5T>G (n.3970-5T>G) c.3907-5T>G (n.3907-5T>G) c.3751-5T>G (n.3751-5T>G) c.3682-5T>G (n.3682-5T>G) | ClinVar |
6 | g.33164478A>G | CA2678226375 | COL11A2 | n.670-5T>C c.4864-5T>C (n.4864-5T>C) c.4543-5T>C (n.4543-5T>C) c.4606-5T>C (n.4606-5T>C) n.654-5T>C c.4018-5T>C (n.4018-5T>C) c.4150-5T>C (n.4150-5T>C) c.3970-5T>C (n.3970-5T>C) c.3907-5T>C (n.3907-5T>C) c.3751-5T>C (n.3751-5T>C) c.3682-5T>C (n.3682-5T>C) | gnomAD v4 |
6 | g.33164479A>G | CA2678226376 | COL11A2 | n.670-6T>C c.4864-6T>C (n.4864-6T>C) c.4543-6T>C (n.4543-6T>C) c.4606-6T>C (n.4606-6T>C) n.654-6T>C c.4018-6T>C (n.4018-6T>C) c.4150-6T>C (n.4150-6T>C) c.3970-6T>C (n.3970-6T>C) c.3907-6T>C (n.3907-6T>C) c.3751-6T>C (n.3751-6T>C) c.3682-6T>C (n.3682-6T>C) | gnomAD v4 |
6 | g.33164479_33164505delinsAGGAGAGAGAGGGCTGGCCTCAGAGGG | CA1619889914 | COL11A2 | n.670-32_670-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT c.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4864-32_4864-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4543-32_4543-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4606-32_4606-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) n.654-32_654-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT c.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4018-32_4018-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.4150-32_4150-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3970-32_3970-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3907-32_3907-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3751-32_3751-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) c.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT (n.3682-32_3682-6delinsCCCTCTGAGGCCAGCCCTCTCTCTCCT) | |
6 | g.33164480G>A | CA1619889922 | COL11A2 | n.670-7C>T c.4864-7C>T (n.4864-7C>T) c.4543-7C>T (n.4543-7C>T) c.4606-7C>T (n.4606-7C>T) n.654-7C>T c.4018-7C>T (n.4018-7C>T) c.4150-7C>T (n.4150-7C>T) c.3970-7C>T (n.3970-7C>T) c.3907-7C>T (n.3907-7C>T) c.3751-7C>T (n.3751-7C>T) c.3682-7C>T (n.3682-7C>T) | dbSNP gnomAD v4 |
6 | g.33164480G= | CA1619889923 | COL11A2 | n.670-7C= c.4864-7C= (n.4864-7C=) c.4543-7C= (n.4543-7C=) c.4606-7C= (n.4606-7C=) n.654-7C= c.4018-7C= (n.4018-7C=) c.4150-7C= (n.4150-7C=) c.3970-7C= (n.3970-7C=) c.3907-7C= (n.3907-7C=) c.3751-7C= (n.3751-7C=) c.3682-7C= (n.3682-7C=) | |
6 | g.33164480_33164484delinsGGAGA | CA1619889924 | COL11A2 | n.670-11_670-7delinsTCTCC c.4864-11_4864-7delinsTCTCC (n.4864-11_4864-7delinsTCTCC) c.4543-11_4543-7delinsTCTCC (n.4543-11_4543-7delinsTCTCC) c.4606-11_4606-7delinsTCTCC (n.4606-11_4606-7delinsTCTCC) n.654-11_654-7delinsTCTCC c.4018-11_4018-7delinsTCTCC (n.4018-11_4018-7delinsTCTCC) c.4150-11_4150-7delinsTCTCC (n.4150-11_4150-7delinsTCTCC) c.3970-11_3970-7delinsTCTCC (n.3970-11_3970-7delinsTCTCC) c.3907-11_3907-7delinsTCTCC (n.3907-11_3907-7delinsTCTCC) c.3751-11_3751-7delinsTCTCC (n.3751-11_3751-7delinsTCTCC) c.3682-11_3682-7delinsTCTCC (n.3682-11_3682-7delinsTCTCC) | |
6 | g.33164501_33164502insGGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAG | CA2678226379 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCCCCCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164503_33164504insTGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAG | CA2678226378 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCTCTCCCACTCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164509_33164510insGGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGGGAG | CA2678226377 | COL11A2 | n.670-7_670-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC c.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4864-7_4864-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4543-7_4543-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4606-7_4606-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) n.654-7_654-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC c.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4018-7_4018-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.4150-7_4150-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3970-7_3970-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3907-7_3907-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3751-7_3751-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) c.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC (n.3682-7_3682-6insCCCTCTGAGGCCAGCCCTCTCCCTCCCCCTCTGAGGCCAGCCCTCTCTCTCC) | gnomAD v4 |
6 | g.33164506_33164531dup | CA566698792 | COL11A2 | n.670-32_670-7dup c.4864-32_4864-7dup (n.4864-32_4864-7dup) c.4543-32_4543-7dup (n.4543-32_4543-7dup) c.4606-32_4606-7dup (n.4606-32_4606-7dup) n.654-32_654-7dup c.4018-32_4018-7dup (n.4018-32_4018-7dup) c.4150-32_4150-7dup (n.4150-32_4150-7dup) c.3970-32_3970-7dup (n.3970-32_3970-7dup) c.3907-32_3907-7dup (n.3907-32_3907-7dup) c.3751-32_3751-7dup (n.3751-32_3751-7dup) c.3682-32_3682-7dup (n.3682-32_3682-7dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164480_33164531dup | CA566698793 | COL11A2 | n.670-58_670-7dup c.4864-58_4864-7dup (n.4864-58_4864-7dup) c.4543-58_4543-7dup (n.4543-58_4543-7dup) c.4606-58_4606-7dup (n.4606-58_4606-7dup) n.654-58_654-7dup c.4018-58_4018-7dup (n.4018-58_4018-7dup) c.4150-58_4150-7dup (n.4150-58_4150-7dup) c.3970-58_3970-7dup (n.3970-58_3970-7dup) c.3907-58_3907-7dup (n.3907-58_3907-7dup) c.3751-58_3751-7dup (n.3751-58_3751-7dup) c.3682-58_3682-7dup (n.3682-58_3682-7dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164506_33164531del | CA3749966 | COL11A2 | n.670-32_670-7del c.4864-32_4864-7del (n.4864-32_4864-7del) c.4543-32_4543-7del (n.4543-32_4543-7del) c.4606-32_4606-7del (n.4606-32_4606-7del) n.654-32_654-7del c.4018-32_4018-7del (n.4018-32_4018-7del) c.4150-32_4150-7del (n.4150-32_4150-7del) c.3970-32_3970-7del (n.3970-32_3970-7del) c.3907-32_3907-7del (n.3907-32_3907-7del) c.3751-32_3751-7del (n.3751-32_3751-7del) c.3682-32_3682-7del (n.3682-32_3682-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164481G>A | CA824029585 | COL11A2 | n.670-8C>T c.4864-8C>T (n.4864-8C>T) c.4543-8C>T (n.4543-8C>T) c.4606-8C>T (n.4606-8C>T) n.654-8C>T c.4018-8C>T (n.4018-8C>T) c.4150-8C>T (n.4150-8C>T) c.3970-8C>T (n.3970-8C>T) c.3907-8C>T (n.3907-8C>T) c.3751-8C>T (n.3751-8C>T) c.3682-8C>T (n.3682-8C>T) | ClinVar dbSNP |
6 | g.33164481G>C | CA2578581071 | COL11A2 | n.670-8C>G c.4864-8C>G (n.4864-8C>G) c.4543-8C>G (n.4543-8C>G) c.4606-8C>G (n.4606-8C>G) n.654-8C>G c.4018-8C>G (n.4018-8C>G) c.4150-8C>G (n.4150-8C>G) c.3970-8C>G (n.3970-8C>G) c.3907-8C>G (n.3907-8C>G) c.3751-8C>G (n.3751-8C>G) c.3682-8C>G (n.3682-8C>G) | gnomAD v4 |
6 | g.33164481G= | CA1619889932 | COL11A2 | n.670-8C= c.4864-8C= (n.4864-8C=) c.4543-8C= (n.4543-8C=) c.4606-8C= (n.4606-8C=) n.654-8C= c.4018-8C= (n.4018-8C=) c.4150-8C= (n.4150-8C=) c.3970-8C= (n.3970-8C=) c.3907-8C= (n.3907-8C=) c.3751-8C= (n.3751-8C=) c.3682-8C= (n.3682-8C=) | |
6 | g.33164488_33164489del | CA2678226380 | COL11A2 | n.670-9_670-8del c.4864-9_4864-8del (n.4864-9_4864-8del) c.4543-9_4543-8del (n.4543-9_4543-8del) c.4606-9_4606-8del (n.4606-9_4606-8del) n.654-9_654-8del c.4018-9_4018-8del (n.4018-9_4018-8del) c.4150-9_4150-8del (n.4150-9_4150-8del) c.3970-9_3970-8del (n.3970-9_3970-8del) c.3907-9_3907-8del (n.3907-9_3907-8del) c.3751-9_3751-8del (n.3751-9_3751-8del) c.3682-9_3682-8del (n.3682-9_3682-8del) | ClinVar gnomAD v4 |
6 | g.33164486_33164489del | CA3749967 | COL11A2 | n.670-11_670-8del c.4864-11_4864-8del (n.4864-11_4864-8del) c.4543-11_4543-8del (n.4543-11_4543-8del) c.4606-11_4606-8del (n.4606-11_4606-8del) n.654-11_654-8del c.4018-11_4018-8del (n.4018-11_4018-8del) c.4150-11_4150-8del (n.4150-11_4150-8del) c.3970-11_3970-8del (n.3970-11_3970-8del) c.3907-11_3907-8del (n.3907-11_3907-8del) c.3751-11_3751-8del (n.3751-11_3751-8del) c.3682-11_3682-8del (n.3682-11_3682-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164482A= | CA1619889936 | COL11A2 | n.670-9T= c.4864-9T= (n.4864-9T=) c.4543-9T= (n.4543-9T=) c.4606-9T= (n.4606-9T=) n.654-9T= c.4018-9T= (n.4018-9T=) c.4150-9T= (n.4150-9T=) c.3970-9T= (n.3970-9T=) c.3907-9T= (n.3907-9T=) c.3751-9T= (n.3751-9T=) c.3682-9T= (n.3682-9T=) | |
6 | g.33164482A>G | CA3749968 | COL11A2 | n.670-9T>C c.4864-9T>C (n.4864-9T>C) c.4543-9T>C (n.4543-9T>C) c.4606-9T>C (n.4606-9T>C) n.654-9T>C c.4018-9T>C (n.4018-9T>C) c.4150-9T>C (n.4150-9T>C) c.3970-9T>C (n.3970-9T>C) c.3907-9T>C (n.3907-9T>C) c.3751-9T>C (n.3751-9T>C) c.3682-9T>C (n.3682-9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164483G>C | CA3749969 | COL11A2 | n.670-10C>G c.4864-10C>G (n.4864-10C>G) c.4543-10C>G (n.4543-10C>G) c.4606-10C>G (n.4606-10C>G) n.654-10C>G c.4018-10C>G (n.4018-10C>G) c.4150-10C>G (n.4150-10C>G) c.3970-10C>G (n.3970-10C>G) c.3907-10C>G (n.3907-10C>G) c.3751-10C>G (n.3751-10C>G) c.3682-10C>G (n.3682-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164483G= | CA1619889938 | COL11A2 | n.670-10C= c.4864-10C= (n.4864-10C=) c.4543-10C= (n.4543-10C=) c.4606-10C= (n.4606-10C=) n.654-10C= c.4018-10C= (n.4018-10C=) c.4150-10C= (n.4150-10C=) c.3970-10C= (n.3970-10C=) c.3907-10C= (n.3907-10C=) c.3751-10C= (n.3751-10C=) c.3682-10C= (n.3682-10C=) | |
6 | g.33164484A>G | CA2678226381 | COL11A2 | n.670-11T>C c.4864-11T>C (n.4864-11T>C) c.4543-11T>C (n.4543-11T>C) c.4606-11T>C (n.4606-11T>C) n.654-11T>C c.4018-11T>C (n.4018-11T>C) c.4150-11T>C (n.4150-11T>C) c.3970-11T>C (n.3970-11T>C) c.3907-11T>C (n.3907-11T>C) c.3751-11T>C (n.3751-11T>C) c.3682-11T>C (n.3682-11T>C) | gnomAD v4 |
6 | g.33164484A>T | CA2678226382 | COL11A2 | n.670-11T>A c.4864-11T>A (n.4864-11T>A) c.4543-11T>A (n.4543-11T>A) c.4606-11T>A (n.4606-11T>A) n.654-11T>A c.4018-11T>A (n.4018-11T>A) c.4150-11T>A (n.4150-11T>A) c.3970-11T>A (n.3970-11T>A) c.3907-11T>A (n.3907-11T>A) c.3751-11T>A (n.3751-11T>A) c.3682-11T>A (n.3682-11T>A) | gnomAD v4 |
6 | g.33164485G>A | CA1087647527 | COL11A2 | n.670-12C>T c.4864-12C>T (n.4864-12C>T) c.4543-12C>T (n.4543-12C>T) c.4606-12C>T (n.4606-12C>T) n.654-12C>T c.4018-12C>T (n.4018-12C>T) c.4150-12C>T (n.4150-12C>T) c.3970-12C>T (n.3970-12C>T) c.3907-12C>T (n.3907-12C>T) c.3751-12C>T (n.3751-12C>T) c.3682-12C>T (n.3682-12C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164485G= | CA1619889940 | COL11A2 | n.670-12C= c.4864-12C= (n.4864-12C=) c.4543-12C= (n.4543-12C=) c.4606-12C= (n.4606-12C=) n.654-12C= c.4018-12C= (n.4018-12C=) c.4150-12C= (n.4150-12C=) c.3970-12C= (n.3970-12C=) c.3907-12C= (n.3907-12C=) c.3751-12C= (n.3751-12C=) c.3682-12C= (n.3682-12C=) | |
6 | g.33164489G>C | CA566698794 | COL11A2 | n.670-16C>G c.4864-16C>G (n.4864-16C>G) c.4543-16C>G (n.4543-16C>G) c.4606-16C>G (n.4606-16C>G) n.654-16C>G c.4018-16C>G (n.4018-16C>G) c.4150-16C>G (n.4150-16C>G) c.3970-16C>G (n.3970-16C>G) c.3907-16C>G (n.3907-16C>G) c.3751-16C>G (n.3751-16C>G) c.3682-16C>G (n.3682-16C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164489G= | CA1619889942 | COL11A2 | n.670-16C= c.4864-16C= (n.4864-16C=) c.4543-16C= (n.4543-16C=) c.4606-16C= (n.4606-16C=) n.654-16C= c.4018-16C= (n.4018-16C=) c.4150-16C= (n.4150-16C=) c.3970-16C= (n.3970-16C=) c.3907-16C= (n.3907-16C=) c.3751-16C= (n.3751-16C=) c.3682-16C= (n.3682-16C=) | |
6 | g.33164489G>T | CA2678226384 | COL11A2 | n.670-16C>A c.4864-16C>A (n.4864-16C>A) c.4543-16C>A (n.4543-16C>A) c.4606-16C>A (n.4606-16C>A) n.654-16C>A c.4018-16C>A (n.4018-16C>A) c.4150-16C>A (n.4150-16C>A) c.3970-16C>A (n.3970-16C>A) c.3907-16C>A (n.3907-16C>A) c.3751-16C>A (n.3751-16C>A) c.3682-16C>A (n.3682-16C>A) | gnomAD v4 |
6 | g.33164491dup | CA2678226383 | COL11A2 | n.670-16dup c.4864-16dup (n.4864-16dup) c.4543-16dup (n.4543-16dup) c.4606-16dup (n.4606-16dup) n.654-16dup c.4018-16dup (n.4018-16dup) c.4150-16dup (n.4150-16dup) c.3970-16dup (n.3970-16dup) c.3907-16dup (n.3907-16dup) c.3751-16dup (n.3751-16dup) c.3682-16dup (n.3682-16dup) | ClinVar gnomAD v4 |
6 | g.33164491del | CA2697553314 | COL11A2 | n.670-16del c.4864-16del (n.4864-16del) c.4543-16del (n.4543-16del) c.4606-16del (n.4606-16del) n.654-16del c.4018-16del (n.4018-16del) c.4150-16del (n.4150-16del) c.3970-16del (n.3970-16del) c.3907-16del (n.3907-16del) c.3751-16del (n.3751-16del) c.3682-16del (n.3682-16del) | ClinVar |
6 | g.33164490G>A | CA2678226385 | COL11A2 | n.670-17C>T c.4864-17C>T (n.4864-17C>T) c.4543-17C>T (n.4543-17C>T) c.4606-17C>T (n.4606-17C>T) n.654-17C>T c.4018-17C>T (n.4018-17C>T) c.4150-17C>T (n.4150-17C>T) c.3970-17C>T (n.3970-17C>T) c.3907-17C>T (n.3907-17C>T) c.3751-17C>T (n.3751-17C>T) c.3682-17C>T (n.3682-17C>T) | gnomAD v4 |
6 | g.33164490G>C | CA2678226386 | COL11A2 | n.670-17C>G c.4864-17C>G (n.4864-17C>G) c.4543-17C>G (n.4543-17C>G) c.4606-17C>G (n.4606-17C>G) n.654-17C>G c.4018-17C>G (n.4018-17C>G) c.4150-17C>G (n.4150-17C>G) c.3970-17C>G (n.3970-17C>G) c.3907-17C>G (n.3907-17C>G) c.3751-17C>G (n.3751-17C>G) c.3682-17C>G (n.3682-17C>G) | dbSNP gnomAD v4 |
6 | g.33164490G= | CA1619889945 | COL11A2 | n.670-17C= c.4864-17C= (n.4864-17C=) c.4543-17C= (n.4543-17C=) c.4606-17C= (n.4606-17C=) n.654-17C= c.4018-17C= (n.4018-17C=) c.4150-17C= (n.4150-17C=) c.3970-17C= (n.3970-17C=) c.3907-17C= (n.3907-17C=) c.3751-17C= (n.3751-17C=) c.3682-17C= (n.3682-17C=) | |
6 | g.33164490G>T | CA1087647528 | COL11A2 | n.670-17C>A c.4864-17C>A (n.4864-17C>A) c.4543-17C>A (n.4543-17C>A) c.4606-17C>A (n.4606-17C>A) n.654-17C>A c.4018-17C>A (n.4018-17C>A) c.4150-17C>A (n.4150-17C>A) c.3970-17C>A (n.3970-17C>A) c.3907-17C>A (n.3907-17C>A) c.3751-17C>A (n.3751-17C>A) c.3682-17C>A (n.3682-17C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164491G>A | CA1619889950 | COL11A2 | n.670-18C>T c.4864-18C>T (n.4864-18C>T) c.4543-18C>T (n.4543-18C>T) c.4606-18C>T (n.4606-18C>T) n.654-18C>T c.4018-18C>T (n.4018-18C>T) c.4150-18C>T (n.4150-18C>T) c.3970-18C>T (n.3970-18C>T) c.3907-18C>T (n.3907-18C>T) c.3751-18C>T (n.3751-18C>T) c.3682-18C>T (n.3682-18C>T) | dbSNP gnomAD v4 |
6 | g.33164491G= | CA1619889948 | COL11A2 | n.670-18C= c.4864-18C= (n.4864-18C=) c.4543-18C= (n.4543-18C=) c.4606-18C= (n.4606-18C=) n.654-18C= c.4018-18C= (n.4018-18C=) c.4150-18C= (n.4150-18C=) c.3970-18C= (n.3970-18C=) c.3907-18C= (n.3907-18C=) c.3751-18C= (n.3751-18C=) c.3682-18C= (n.3682-18C=) | |
6 | g.33164491G>T | CA824029589 | COL11A2 | n.670-18C>A c.4864-18C>A (n.4864-18C>A) c.4543-18C>A (n.4543-18C>A) c.4606-18C>A (n.4606-18C>A) n.654-18C>A c.4018-18C>A (n.4018-18C>A) c.4150-18C>A (n.4150-18C>A) c.3970-18C>A (n.3970-18C>A) c.3907-18C>A (n.3907-18C>A) c.3751-18C>A (n.3751-18C>A) c.3682-18C>A (n.3682-18C>A) | dbSNP |
6 | g.33164492C>A | CA2678226388 | COL11A2 | n.670-19G>T c.4864-19G>T (n.4864-19G>T) c.4543-19G>T (n.4543-19G>T) c.4606-19G>T (n.4606-19G>T) n.654-19G>T c.4018-19G>T (n.4018-19G>T) c.4150-19G>T (n.4150-19G>T) c.3970-19G>T (n.3970-19G>T) c.3907-19G>T (n.3907-19G>T) c.3751-19G>T (n.3751-19G>T) c.3682-19G>T (n.3682-19G>T) | gnomAD v4 |
6 | g.33164492C>T | CA2678226387 | COL11A2 | n.670-19G>A c.4864-19G>A (n.4864-19G>A) c.4543-19G>A (n.4543-19G>A) c.4606-19G>A (n.4606-19G>A) n.654-19G>A c.4018-19G>A (n.4018-19G>A) c.4150-19G>A (n.4150-19G>A) c.3970-19G>A (n.3970-19G>A) c.3907-19G>A (n.3907-19G>A) c.3751-19G>A (n.3751-19G>A) c.3682-19G>A (n.3682-19G>A) | gnomAD v4 |
6 | g.33164493T>A | CA2678226390 | COL11A2 | n.670-20A>T c.4864-20A>T (n.4864-20A>T) c.4543-20A>T (n.4543-20A>T) c.4606-20A>T (n.4606-20A>T) n.654-20A>T c.4018-20A>T (n.4018-20A>T) c.4150-20A>T (n.4150-20A>T) c.3970-20A>T (n.3970-20A>T) c.3907-20A>T (n.3907-20A>T) c.3751-20A>T (n.3751-20A>T) c.3682-20A>T (n.3682-20A>T) | gnomAD v4 |
6 | g.33164493T>C | CA2578581072 | COL11A2 | n.670-20A>G c.4864-20A>G (n.4864-20A>G) c.4543-20A>G (n.4543-20A>G) c.4606-20A>G (n.4606-20A>G) n.654-20A>G c.4018-20A>G (n.4018-20A>G) c.4150-20A>G (n.4150-20A>G) c.3970-20A>G (n.3970-20A>G) c.3907-20A>G (n.3907-20A>G) c.3751-20A>G (n.3751-20A>G) c.3682-20A>G (n.3682-20A>G) | |
6 | g.33164494G>A | CA824029591 | COL11A2 | n.670-21C>T c.4864-21C>T (n.4864-21C>T) c.4543-21C>T (n.4543-21C>T) c.4606-21C>T (n.4606-21C>T) n.654-21C>T c.4018-21C>T (n.4018-21C>T) c.4150-21C>T (n.4150-21C>T) c.3970-21C>T (n.3970-21C>T) c.3907-21C>T (n.3907-21C>T) c.3751-21C>T (n.3751-21C>T) c.3682-21C>T (n.3682-21C>T) | dbSNP gnomAD v4 |
6 | g.33164494G>C | CA2578581073 | COL11A2 | n.670-21C>G c.4864-21C>G (n.4864-21C>G) c.4543-21C>G (n.4543-21C>G) c.4606-21C>G (n.4606-21C>G) n.654-21C>G c.4018-21C>G (n.4018-21C>G) c.4150-21C>G (n.4150-21C>G) c.3970-21C>G (n.3970-21C>G) c.3907-21C>G (n.3907-21C>G) c.3751-21C>G (n.3751-21C>G) c.3682-21C>G (n.3682-21C>G) | |
6 | g.33164494G= | CA1619889952 | COL11A2 | n.670-21C= c.4864-21C= (n.4864-21C=) c.4543-21C= (n.4543-21C=) c.4606-21C= (n.4606-21C=) n.654-21C= c.4018-21C= (n.4018-21C=) c.4150-21C= (n.4150-21C=) c.3970-21C= (n.3970-21C=) c.3907-21C= (n.3907-21C=) c.3751-21C= (n.3751-21C=) c.3682-21C= (n.3682-21C=) | |
6 | g.33164494G>T | CA1087647530 | COL11A2 | n.670-21C>A c.4864-21C>A (n.4864-21C>A) c.4543-21C>A (n.4543-21C>A) c.4606-21C>A (n.4606-21C>A) n.654-21C>A c.4018-21C>A (n.4018-21C>A) c.4150-21C>A (n.4150-21C>A) c.3970-21C>A (n.3970-21C>A) c.3907-21C>A (n.3907-21C>A) c.3751-21C>A (n.3751-21C>A) c.3682-21C>A (n.3682-21C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164495G>A | CA3749970 | COL11A2 | n.670-22C>T c.4864-22C>T (n.4864-22C>T) c.4543-22C>T (n.4543-22C>T) c.4606-22C>T (n.4606-22C>T) n.654-22C>T c.4018-22C>T (n.4018-22C>T) c.4150-22C>T (n.4150-22C>T) c.3970-22C>T (n.3970-22C>T) c.3907-22C>T (n.3907-22C>T) c.3751-22C>T (n.3751-22C>T) c.3682-22C>T (n.3682-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164495G>C | CA1087647536 | COL11A2 | n.670-22C>G c.4864-22C>G (n.4864-22C>G) c.4543-22C>G (n.4543-22C>G) c.4606-22C>G (n.4606-22C>G) n.654-22C>G c.4018-22C>G (n.4018-22C>G) c.4150-22C>G (n.4150-22C>G) c.3970-22C>G (n.3970-22C>G) c.3907-22C>G (n.3907-22C>G) c.3751-22C>G (n.3751-22C>G) c.3682-22C>G (n.3682-22C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164495G= | CA1619889956 | COL11A2 | n.670-22C= c.4864-22C= (n.4864-22C=) c.4543-22C= (n.4543-22C=) c.4606-22C= (n.4606-22C=) n.654-22C= c.4018-22C= (n.4018-22C=) c.4150-22C= (n.4150-22C=) c.3970-22C= (n.3970-22C=) c.3907-22C= (n.3907-22C=) c.3751-22C= (n.3751-22C=) c.3682-22C= (n.3682-22C=) | |
6 | g.33164496C>A | CA2678226392 | COL11A2 | n.670-23G>T c.4864-23G>T (n.4864-23G>T) c.4543-23G>T (n.4543-23G>T) c.4606-23G>T (n.4606-23G>T) n.654-23G>T c.4018-23G>T (n.4018-23G>T) c.4150-23G>T (n.4150-23G>T) c.3970-23G>T (n.3970-23G>T) c.3907-23G>T (n.3907-23G>T) c.3751-23G>T (n.3751-23G>T) c.3682-23G>T (n.3682-23G>T) | gnomAD v4 |
6 | g.33164496_33164499del | CA2678226391 | COL11A2 | n.670-26_670-23del c.4864-26_4864-23del (n.4864-26_4864-23del) c.4543-26_4543-23del (n.4543-26_4543-23del) c.4606-26_4606-23del (n.4606-26_4606-23del) n.654-26_654-23del c.4018-26_4018-23del (n.4018-26_4018-23del) c.4150-26_4150-23del (n.4150-26_4150-23del) c.3970-26_3970-23del (n.3970-26_3970-23del) c.3907-26_3907-23del (n.3907-26_3907-23del) c.3751-26_3751-23del (n.3751-26_3751-23del) c.3682-26_3682-23del (n.3682-26_3682-23del) | gnomAD v4 |
6 | g.33164497C>A | CA2578581074 | COL11A2 | n.670-24G>T c.4864-24G>T (n.4864-24G>T) c.4543-24G>T (n.4543-24G>T) c.4606-24G>T (n.4606-24G>T) n.654-24G>T c.4018-24G>T (n.4018-24G>T) c.4150-24G>T (n.4150-24G>T) c.3970-24G>T (n.3970-24G>T) c.3907-24G>T (n.3907-24G>T) c.3751-24G>T (n.3751-24G>T) c.3682-24G>T (n.3682-24G>T) | |
6 | g.33164497C= | CA1619889959 | COL11A2 | n.670-24G= c.4864-24G= (n.4864-24G=) c.4543-24G= (n.4543-24G=) c.4606-24G= (n.4606-24G=) n.654-24G= c.4018-24G= (n.4018-24G=) c.4150-24G= (n.4150-24G=) c.3970-24G= (n.3970-24G=) c.3907-24G= (n.3907-24G=) c.3751-24G= (n.3751-24G=) c.3682-24G= (n.3682-24G=) | |
6 | g.33164497C>T | CA3749971 | COL11A2 | n.670-24G>A c.4864-24G>A (n.4864-24G>A) c.4543-24G>A (n.4543-24G>A) c.4606-24G>A (n.4606-24G>A) n.654-24G>A c.4018-24G>A (n.4018-24G>A) c.4150-24G>A (n.4150-24G>A) c.3970-24G>A (n.3970-24G>A) c.3907-24G>A (n.3907-24G>A) c.3751-24G>A (n.3751-24G>A) c.3682-24G>A (n.3682-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33164499C>A | CA2678226394 | COL11A2 | n.670-26G>T c.4864-26G>T (n.4864-26G>T) c.4543-26G>T (n.4543-26G>T) c.4606-26G>T (n.4606-26G>T) n.654-26G>T c.4018-26G>T (n.4018-26G>T) c.4150-26G>T (n.4150-26G>T) c.3970-26G>T (n.3970-26G>T) c.3907-26G>T (n.3907-26G>T) c.3751-26G>T (n.3751-26G>T) c.3682-26G>T (n.3682-26G>T) | gnomAD v4 |
6 | g.33164499C= | CA1619889961 | COL11A2 | n.670-26G= c.4864-26G= (n.4864-26G=) c.4543-26G= (n.4543-26G=) c.4606-26G= (n.4606-26G=) n.654-26G= c.4018-26G= (n.4018-26G=) c.4150-26G= (n.4150-26G=) c.3970-26G= (n.3970-26G=) c.3907-26G= (n.3907-26G=) c.3751-26G= (n.3751-26G=) c.3682-26G= (n.3682-26G=) | |
6 | g.33164499C>G | CA3749972 | COL11A2 | n.670-26G>C c.4864-26G>C (n.4864-26G>C) c.4543-26G>C (n.4543-26G>C) c.4606-26G>C (n.4606-26G>C) n.654-26G>C c.4018-26G>C (n.4018-26G>C) c.4150-26G>C (n.4150-26G>C) c.3970-26G>C (n.3970-26G>C) c.3907-26G>C (n.3907-26G>C) c.3751-26G>C (n.3751-26G>C) c.3682-26G>C (n.3682-26G>C) | dbSNP ExAC gnomAD v4 |
6 | g.33164499C>T | CA2578581075 | COL11A2 | n.670-26G>A c.4864-26G>A (n.4864-26G>A) c.4543-26G>A (n.4543-26G>A) c.4606-26G>A (n.4606-26G>A) n.654-26G>A c.4018-26G>A (n.4018-26G>A) c.4150-26G>A (n.4150-26G>A) c.3970-26G>A (n.3970-26G>A) c.3907-26G>A (n.3907-26G>A) c.3751-26G>A (n.3751-26G>A) c.3682-26G>A (n.3682-26G>A) | |
6 | g.33164500A>G | CA2678226396 | COL11A2 | n.670-27T>C c.4864-27T>C (n.4864-27T>C) c.4543-27T>C (n.4543-27T>C) c.4606-27T>C (n.4606-27T>C) n.654-27T>C c.4018-27T>C (n.4018-27T>C) c.4150-27T>C (n.4150-27T>C) c.3970-27T>C (n.3970-27T>C) c.3907-27T>C (n.3907-27T>C) c.3751-27T>C (n.3751-27T>C) c.3682-27T>C (n.3682-27T>C) | gnomAD v4 |
6 | g.33164502_33164503del | CA2678226395 | COL11A2 | n.670-28_670-27del c.4864-28_4864-27del (n.4864-28_4864-27del) c.4543-28_4543-27del (n.4543-28_4543-27del) c.4606-28_4606-27del (n.4606-28_4606-27del) n.654-28_654-27del c.4018-28_4018-27del (n.4018-28_4018-27del) c.4150-28_4150-27del (n.4150-28_4150-27del) c.3970-28_3970-27del (n.3970-28_3970-27del) c.3907-28_3907-27del (n.3907-28_3907-27del) c.3751-28_3751-27del (n.3751-28_3751-27del) c.3682-28_3682-27del (n.3682-28_3682-27del) | gnomAD v4 |
6 | g.33164501G>C | CA1619889966 | COL11A2 | n.670-28C>G c.4864-28C>G (n.4864-28C>G) c.4543-28C>G (n.4543-28C>G) c.4606-28C>G (n.4606-28C>G) n.654-28C>G c.4018-28C>G (n.4018-28C>G) c.4150-28C>G (n.4150-28C>G) c.3970-28C>G (n.3970-28C>G) c.3907-28C>G (n.3907-28C>G) c.3751-28C>G (n.3751-28C>G) c.3682-28C>G (n.3682-28C>G) | dbSNP |
6 | g.33164501G= | CA1619889964 | COL11A2 | n.670-28C= c.4864-28C= (n.4864-28C=) c.4543-28C= (n.4543-28C=) c.4606-28C= (n.4606-28C=) n.654-28C= c.4018-28C= (n.4018-28C=) c.4150-28C= (n.4150-28C=) c.3970-28C= (n.3970-28C=) c.3907-28C= (n.3907-28C=) c.3751-28C= (n.3751-28C=) c.3682-28C= (n.3682-28C=) | |
6 | g.33164502A>G | CA2678226397 | COL11A2 | n.670-29T>C c.4864-29T>C (n.4864-29T>C) c.4543-29T>C (n.4543-29T>C) c.4606-29T>C (n.4606-29T>C) n.654-29T>C c.4018-29T>C (n.4018-29T>C) c.4150-29T>C (n.4150-29T>C) c.3970-29T>C (n.3970-29T>C) c.3907-29T>C (n.3907-29T>C) c.3751-29T>C (n.3751-29T>C) c.3682-29T>C (n.3682-29T>C) | gnomAD v4 |
6 | g.33164502A>T | CA2678226398 | COL11A2 | n.670-29T>A c.4864-29T>A (n.4864-29T>A) c.4543-29T>A (n.4543-29T>A) c.4606-29T>A (n.4606-29T>A) n.654-29T>A c.4018-29T>A (n.4018-29T>A) c.4150-29T>A (n.4150-29T>A) c.3970-29T>A (n.3970-29T>A) c.3907-29T>A (n.3907-29T>A) c.3751-29T>A (n.3751-29T>A) c.3682-29T>A (n.3682-29T>A) | gnomAD v4 |
6 | g.33164503G>A | CA3749973 | COL11A2 | n.670-30C>T c.4864-30C>T (n.4864-30C>T) c.4543-30C>T (n.4543-30C>T) c.4606-30C>T (n.4606-30C>T) n.654-30C>T c.4018-30C>T (n.4018-30C>T) c.4150-30C>T (n.4150-30C>T) c.3970-30C>T (n.3970-30C>T) c.3907-30C>T (n.3907-30C>T) c.3751-30C>T (n.3751-30C>T) c.3682-30C>T (n.3682-30C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.33164503G>C | CA3749974 | COL11A2 | n.670-30C>G c.4864-30C>G (n.4864-30C>G) c.4543-30C>G (n.4543-30C>G) c.4606-30C>G (n.4606-30C>G) n.654-30C>G c.4018-30C>G (n.4018-30C>G) c.4150-30C>G (n.4150-30C>G) c.3970-30C>G (n.3970-30C>G) c.3907-30C>G (n.3907-30C>G) c.3751-30C>G (n.3751-30C>G) c.3682-30C>G (n.3682-30C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164503G= | CA1619889969 | COL11A2 | n.670-30C= c.4864-30C= (n.4864-30C=) c.4543-30C= (n.4543-30C=) c.4606-30C= (n.4606-30C=) n.654-30C= c.4018-30C= (n.4018-30C=) c.4150-30C= (n.4150-30C=) c.3970-30C= (n.3970-30C=) c.3907-30C= (n.3907-30C=) c.3751-30C= (n.3751-30C=) c.3682-30C= (n.3682-30C=) | |
6 | g.33164503G>T | CA566698839 | COL11A2 | n.670-30C>A c.4864-30C>A (n.4864-30C>A) c.4543-30C>A (n.4543-30C>A) c.4606-30C>A (n.4606-30C>A) n.654-30C>A c.4018-30C>A (n.4018-30C>A) c.4150-30C>A (n.4150-30C>A) c.3970-30C>A (n.3970-30C>A) c.3907-30C>A (n.3907-30C>A) c.3751-30C>A (n.3751-30C>A) c.3682-30C>A (n.3682-30C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164506_33164507dup | CA2678226399 | COL11A2 | n.670-31_670-30dup c.4864-31_4864-30dup (n.4864-31_4864-30dup) c.4543-31_4543-30dup (n.4543-31_4543-30dup) c.4606-31_4606-30dup (n.4606-31_4606-30dup) n.654-31_654-30dup c.4018-31_4018-30dup (n.4018-31_4018-30dup) c.4150-31_4150-30dup (n.4150-31_4150-30dup) c.3970-31_3970-30dup (n.3970-31_3970-30dup) c.3907-31_3907-30dup (n.3907-31_3907-30dup) c.3751-31_3751-30dup (n.3751-31_3751-30dup) c.3682-31_3682-30dup (n.3682-31_3682-30dup) | gnomAD v4 |
6 | g.33164504G>A | CA3749976 | COL11A2 | n.670-31C>T c.4864-31C>T (n.4864-31C>T) c.4543-31C>T (n.4543-31C>T) c.4606-31C>T (n.4606-31C>T) n.654-31C>T c.4018-31C>T (n.4018-31C>T) c.4150-31C>T (n.4150-31C>T) c.3970-31C>T (n.3970-31C>T) c.3907-31C>T (n.3907-31C>T) c.3751-31C>T (n.3751-31C>T) c.3682-31C>T (n.3682-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164504G>C | CA3749975 | COL11A2 | n.670-31C>G c.4864-31C>G (n.4864-31C>G) c.4543-31C>G (n.4543-31C>G) c.4606-31C>G (n.4606-31C>G) n.654-31C>G c.4018-31C>G (n.4018-31C>G) c.4150-31C>G (n.4150-31C>G) c.3970-31C>G (n.3970-31C>G) c.3907-31C>G (n.3907-31C>G) c.3751-31C>G (n.3751-31C>G) c.3682-31C>G (n.3682-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164504G= | CA1619889977 | COL11A2 | n.670-31C= c.4864-31C= (n.4864-31C=) c.4543-31C= (n.4543-31C=) c.4606-31C= (n.4606-31C=) n.654-31C= c.4018-31C= (n.4018-31C=) c.4150-31C= (n.4150-31C=) c.3970-31C= (n.3970-31C=) c.3907-31C= (n.3907-31C=) c.3751-31C= (n.3751-31C=) c.3682-31C= (n.3682-31C=) | |
6 | g.33164504G>T | CA137061518 | COL11A2 | n.670-31C>A c.4864-31C>A (n.4864-31C>A) c.4543-31C>A (n.4543-31C>A) c.4606-31C>A (n.4606-31C>A) n.654-31C>A c.4018-31C>A (n.4018-31C>A) c.4150-31C>A (n.4150-31C>A) c.3970-31C>A (n.3970-31C>A) c.3907-31C>A (n.3907-31C>A) c.3751-31C>A (n.3751-31C>A) c.3682-31C>A (n.3682-31C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164505G>A | CA1619889982 | COL11A2 | n.670-32C>T c.4864-32C>T (n.4864-32C>T) c.4543-32C>T (n.4543-32C>T) c.4606-32C>T (n.4606-32C>T) n.654-32C>T c.4018-32C>T (n.4018-32C>T) c.4150-32C>T (n.4150-32C>T) c.3970-32C>T (n.3970-32C>T) c.3907-32C>T (n.3907-32C>T) c.3751-32C>T (n.3751-32C>T) c.3682-32C>T (n.3682-32C>T) | dbSNP |
6 | g.33164505G= | CA1619889984 | COL11A2 | n.670-32C= c.4864-32C= (n.4864-32C=) c.4543-32C= (n.4543-32C=) c.4606-32C= (n.4606-32C=) n.654-32C= c.4018-32C= (n.4018-32C=) c.4150-32C= (n.4150-32C=) c.3970-32C= (n.3970-32C=) c.3907-32C= (n.3907-32C=) c.3751-32C= (n.3751-32C=) c.3682-32C= (n.3682-32C=) | |
6 | g.33164505G>T | CA2678226401 | COL11A2 | n.670-32C>A c.4864-32C>A (n.4864-32C>A) c.4543-32C>A (n.4543-32C>A) c.4606-32C>A (n.4606-32C>A) n.654-32C>A c.4018-32C>A (n.4018-32C>A) c.4150-32C>A (n.4150-32C>A) c.3970-32C>A (n.3970-32C>A) c.3907-32C>A (n.3907-32C>A) c.3751-32C>A (n.3751-32C>A) c.3682-32C>A (n.3682-32C>A) | gnomAD v4 |
6 | g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGTGGGAGAGAGAGGGCTGGCCTCAGAGGG | CA2678226402 | COL11A2 | n.670-32_670-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC c.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4864-32_4864-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4543-32_4543-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4606-32_4606-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) n.654-32_654-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC c.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4018-32_4018-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.4150-32_4150-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3970-32_3970-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3907-32_3907-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3751-32_3751-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) c.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC (n.3682-32_3682-31insACTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCC) | gnomAD v4 |
6 | g.33164511_33164534del | CA2678226400 | COL11A2 | n.670-55_670-32del c.4864-55_4864-32del (n.4864-55_4864-32del) c.4543-55_4543-32del (n.4543-55_4543-32del) c.4606-55_4606-32del (n.4606-55_4606-32del) n.654-55_654-32del c.4018-55_4018-32del (n.4018-55_4018-32del) c.4150-55_4150-32del (n.4150-55_4150-32del) c.3970-55_3970-32del (n.3970-55_3970-32del) c.3907-55_3907-32del (n.3907-55_3907-32del) c.3751-55_3751-32del (n.3751-55_3751-32del) c.3682-55_3682-32del (n.3682-55_3682-32del) | gnomAD v4 |
6 | g.33164506G>A | CA2578581076 | COL11A2 | n.670-33C>T c.4864-33C>T (n.4864-33C>T) c.4543-33C>T (n.4543-33C>T) c.4606-33C>T (n.4606-33C>T) n.654-33C>T c.4018-33C>T (n.4018-33C>T) c.4150-33C>T (n.4150-33C>T) c.3970-33C>T (n.3970-33C>T) c.3907-33C>T (n.3907-33C>T) c.3751-33C>T (n.3751-33C>T) c.3682-33C>T (n.3682-33C>T) | dbSNP gnomAD v4 |
6 | g.33164506G>T | CA2678226403 | COL11A2 | n.670-33C>A c.4864-33C>A (n.4864-33C>A) c.4543-33C>A (n.4543-33C>A) c.4606-33C>A (n.4606-33C>A) n.654-33C>A c.4018-33C>A (n.4018-33C>A) c.4150-33C>A (n.4150-33C>A) c.3970-33C>A (n.3970-33C>A) c.3907-33C>A (n.3907-33C>A) c.3751-33C>A (n.3751-33C>A) c.3682-33C>A (n.3682-33C>A) | gnomAD v4 |
6 | g.33164506_33164508delinsGGA | CA1619889985 | COL11A2 | n.670-35_670-33delinsTCC c.4864-35_4864-33delinsTCC (n.4864-35_4864-33delinsTCC) c.4543-35_4543-33delinsTCC (n.4543-35_4543-33delinsTCC) c.4606-35_4606-33delinsTCC (n.4606-35_4606-33delinsTCC) n.654-35_654-33delinsTCC c.4018-35_4018-33delinsTCC (n.4018-35_4018-33delinsTCC) c.4150-35_4150-33delinsTCC (n.4150-35_4150-33delinsTCC) c.3970-35_3970-33delinsTCC (n.3970-35_3970-33delinsTCC) c.3907-35_3907-33delinsTCC (n.3907-35_3907-33delinsTCC) c.3751-35_3751-33delinsTCC (n.3751-35_3751-33delinsTCC) c.3682-35_3682-33delinsTCC (n.3682-35_3682-33delinsTCC) | |
6 | g.33164507G>A | CA566698840 | COL11A2 | n.670-34C>T c.4864-34C>T (n.4864-34C>T) c.4543-34C>T (n.4543-34C>T) c.4606-34C>T (n.4606-34C>T) n.654-34C>T c.4018-34C>T (n.4018-34C>T) c.4150-34C>T (n.4150-34C>T) c.3970-34C>T (n.3970-34C>T) c.3907-34C>T (n.3907-34C>T) c.3751-34C>T (n.3751-34C>T) c.3682-34C>T (n.3682-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164507G= | CA1619889987 | COL11A2 | n.670-34C= c.4864-34C= (n.4864-34C=) c.4543-34C= (n.4543-34C=) c.4606-34C= (n.4606-34C=) n.654-34C= c.4018-34C= (n.4018-34C=) c.4150-34C= (n.4150-34C=) c.3970-34C= (n.3970-34C=) c.3907-34C= (n.3907-34C=) c.3751-34C= (n.3751-34C=) c.3682-34C= (n.3682-34C=) | |
6 | g.33164507G>T | CA1619889989 | COL11A2 | n.670-34C>A c.4864-34C>A (n.4864-34C>A) c.4543-34C>A (n.4543-34C>A) c.4606-34C>A (n.4606-34C>A) n.654-34C>A c.4018-34C>A (n.4018-34C>A) c.4150-34C>A (n.4150-34C>A) c.3970-34C>A (n.3970-34C>A) c.3907-34C>A (n.3907-34C>A) c.3751-34C>A (n.3751-34C>A) c.3682-34C>A (n.3682-34C>A) | dbSNP gnomAD v4 |
6 | g.33164514_33164515del | CA566698841 | COL11A2 | n.670-35_670-34del c.4864-35_4864-34del (n.4864-35_4864-34del) c.4543-35_4543-34del (n.4543-35_4543-34del) c.4606-35_4606-34del (n.4606-35_4606-34del) n.654-35_654-34del c.4018-35_4018-34del (n.4018-35_4018-34del) c.4150-35_4150-34del (n.4150-35_4150-34del) c.3970-35_3970-34del (n.3970-35_3970-34del) c.3907-35_3907-34del (n.3907-35_3907-34del) c.3751-35_3751-34del (n.3751-35_3751-34del) c.3682-35_3682-34del (n.3682-35_3682-34del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164508A>G | CA2578581077 | COL11A2 | n.670-35T>C c.4864-35T>C (n.4864-35T>C) c.4543-35T>C (n.4543-35T>C) c.4606-35T>C (n.4606-35T>C) n.654-35T>C c.4018-35T>C (n.4018-35T>C) c.4150-35T>C (n.4150-35T>C) c.3970-35T>C (n.3970-35T>C) c.3907-35T>C (n.3907-35T>C) c.3751-35T>C (n.3751-35T>C) c.3682-35T>C (n.3682-35T>C) | gnomAD v4 |
6 | g.33164509G>A | CA2678226404 | COL11A2 | n.670-36C>T c.4864-36C>T (n.4864-36C>T) c.4543-36C>T (n.4543-36C>T) c.4606-36C>T (n.4606-36C>T) n.654-36C>T c.4018-36C>T (n.4018-36C>T) c.4150-36C>T (n.4150-36C>T) c.3970-36C>T (n.3970-36C>T) c.3907-36C>T (n.3907-36C>T) c.3751-36C>T (n.3751-36C>T) c.3682-36C>T (n.3682-36C>T) | gnomAD v4 |
6 | g.33164509G>C | CA2578581078 | COL11A2 | n.670-36C>G c.4864-36C>G (n.4864-36C>G) c.4543-36C>G (n.4543-36C>G) c.4606-36C>G (n.4606-36C>G) n.654-36C>G c.4018-36C>G (n.4018-36C>G) c.4150-36C>G (n.4150-36C>G) c.3970-36C>G (n.3970-36C>G) c.3907-36C>G (n.3907-36C>G) c.3751-36C>G (n.3751-36C>G) c.3682-36C>G (n.3682-36C>G) | dbSNP |
6 | g.33164511G>C | CA2678226405 | COL11A2 | n.670-38C>G c.4864-38C>G (n.4864-38C>G) c.4543-38C>G (n.4543-38C>G) c.4606-38C>G (n.4606-38C>G) n.654-38C>G c.4018-38C>G (n.4018-38C>G) c.4150-38C>G (n.4150-38C>G) c.3970-38C>G (n.3970-38C>G) c.3907-38C>G (n.3907-38C>G) c.3751-38C>G (n.3751-38C>G) c.3682-38C>G (n.3682-38C>G) | gnomAD v4 |
6 | g.33164511G>T | CA2678226406 | COL11A2 | n.670-38C>A c.4864-38C>A (n.4864-38C>A) c.4543-38C>A (n.4543-38C>A) c.4606-38C>A (n.4606-38C>A) n.654-38C>A c.4018-38C>A (n.4018-38C>A) c.4150-38C>A (n.4150-38C>A) c.3970-38C>A (n.3970-38C>A) c.3907-38C>A (n.3907-38C>A) c.3751-38C>A (n.3751-38C>A) c.3682-38C>A (n.3682-38C>A) | gnomAD v4 |
6 | g.33164514A>G | CA2678226408 | COL11A2 | n.670-41T>C c.4864-41T>C (n.4864-41T>C) c.4543-41T>C (n.4543-41T>C) c.4606-41T>C (n.4606-41T>C) n.654-41T>C c.4018-41T>C (n.4018-41T>C) c.4150-41T>C (n.4150-41T>C) c.3970-41T>C (n.3970-41T>C) c.3907-41T>C (n.3907-41T>C) c.3751-41T>C (n.3751-41T>C) c.3682-41T>C (n.3682-41T>C) | gnomAD v4 |
6 | g.33164515G>C | CA2578581079 | COL11A2 | n.670-42C>G c.4864-42C>G (n.4864-42C>G) c.4543-42C>G (n.4543-42C>G) c.4606-42C>G (n.4606-42C>G) n.654-42C>G c.4018-42C>G (n.4018-42C>G) c.4150-42C>G (n.4150-42C>G) c.3970-42C>G (n.3970-42C>G) c.3907-42C>G (n.3907-42C>G) c.3751-42C>G (n.3751-42C>G) c.3682-42C>G (n.3682-42C>G) | |
6 | g.33164516G>A | CA137061523 | COL11A2 | n.670-43C>T c.4864-43C>T (n.4864-43C>T) c.4543-43C>T (n.4543-43C>T) c.4606-43C>T (n.4606-43C>T) n.654-43C>T c.4018-43C>T (n.4018-43C>T) c.4150-43C>T (n.4150-43C>T) c.3970-43C>T (n.3970-43C>T) c.3907-43C>T (n.3907-43C>T) c.3751-43C>T (n.3751-43C>T) c.3682-43C>T (n.3682-43C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164516G= | CA1619889992 | COL11A2 | n.670-43C= c.4864-43C= (n.4864-43C=) c.4543-43C= (n.4543-43C=) c.4606-43C= (n.4606-43C=) n.654-43C= c.4018-43C= (n.4018-43C=) c.4150-43C= (n.4150-43C=) c.3970-43C= (n.3970-43C=) c.3907-43C= (n.3907-43C=) c.3751-43C= (n.3751-43C=) c.3682-43C= (n.3682-43C=) | |
6 | g.33164516G>T | CA566698842 | COL11A2 | n.670-43C>A c.4864-43C>A (n.4864-43C>A) c.4543-43C>A (n.4543-43C>A) c.4606-43C>A (n.4606-43C>A) n.654-43C>A c.4018-43C>A (n.4018-43C>A) c.4150-43C>A (n.4150-43C>A) c.3970-43C>A (n.3970-43C>A) c.3907-43C>A (n.3907-43C>A) c.3751-43C>A (n.3751-43C>A) c.3682-43C>A (n.3682-43C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33164517G>A | CA2678226409 | COL11A2 | n.670-44C>T c.4864-44C>T (n.4864-44C>T) c.4543-44C>T (n.4543-44C>T) c.4606-44C>T (n.4606-44C>T) n.654-44C>T c.4018-44C>T (n.4018-44C>T) c.4150-44C>T (n.4150-44C>T) c.3970-44C>T (n.3970-44C>T) c.3907-44C>T (n.3907-44C>T) c.3751-44C>T (n.3751-44C>T) c.3682-44C>T (n.3682-44C>T) | gnomAD v4 |
6 | g.33164517G>C | CA2578581080 | COL11A2 | n.670-44C>G c.4864-44C>G (n.4864-44C>G) c.4543-44C>G (n.4543-44C>G) c.4606-44C>G (n.4606-44C>G) n.654-44C>G c.4018-44C>G (n.4018-44C>G) c.4150-44C>G (n.4150-44C>G) c.3970-44C>G (n.3970-44C>G) c.3907-44C>G (n.3907-44C>G) c.3751-44C>G (n.3751-44C>G) c.3682-44C>G (n.3682-44C>G) | gnomAD v4 |
6 | g.33164518C>A | CA2678226410 | COL11A2 | n.670-45G>T c.4864-45G>T (n.4864-45G>T) c.4543-45G>T (n.4543-45G>T) c.4606-45G>T (n.4606-45G>T) n.654-45G>T c.4018-45G>T (n.4018-45G>T) c.4150-45G>T (n.4150-45G>T) c.3970-45G>T (n.3970-45G>T) c.3907-45G>T (n.3907-45G>T) c.3751-45G>T (n.3751-45G>T) c.3682-45G>T (n.3682-45G>T) | gnomAD v4 |
6 | g.33164518C>T | CA2678226411 | COL11A2 | n.670-45G>A c.4864-45G>A (n.4864-45G>A) c.4543-45G>A (n.4543-45G>A) c.4606-45G>A (n.4606-45G>A) n.654-45G>A c.4018-45G>A (n.4018-45G>A) c.4150-45G>A (n.4150-45G>A) c.3970-45G>A (n.3970-45G>A) c.3907-45G>A (n.3907-45G>A) c.3751-45G>A (n.3751-45G>A) c.3682-45G>A (n.3682-45G>A) | gnomAD v4 |
6 | g.33164520G>A | CA2678226413 | COL11A2 | n.670-47C>T c.4864-47C>T (n.4864-47C>T) c.4543-47C>T (n.4543-47C>T) c.4606-47C>T (n.4606-47C>T) n.654-47C>T c.4018-47C>T (n.4018-47C>T) c.4150-47C>T (n.4150-47C>T) c.3970-47C>T (n.3970-47C>T) c.3907-47C>T (n.3907-47C>T) c.3751-47C>T (n.3751-47C>T) c.3682-47C>T (n.3682-47C>T) | gnomAD v4 |
6 | g.33164520G>T | CA2678226414 | COL11A2 | n.670-47C>A c.4864-47C>A (n.4864-47C>A) c.4543-47C>A (n.4543-47C>A) c.4606-47C>A (n.4606-47C>A) n.654-47C>A c.4018-47C>A (n.4018-47C>A) c.4150-47C>A (n.4150-47C>A) c.3970-47C>A (n.3970-47C>A) c.3907-47C>A (n.3907-47C>A) c.3751-47C>A (n.3751-47C>A) c.3682-47C>A (n.3682-47C>A) | gnomAD v4 |
6 | g.33164531_33164532insGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCCGGCCTCAGAGGG | CA2678226412 | COL11A2 | n.670-47_670-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC c.4864-47_4864-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4864-47_4864-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.4543-47_4543-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4543-47_4543-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.4606-47_4606-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4606-47_4606-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) n.654-47_654-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC c.4018-47_4018-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4018-47_4018-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.4150-47_4150-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.4150-47_4150-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.3970-47_3970-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3970-47_3970-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.3907-47_3907-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3907-47_3907-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.3751-47_3751-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3751-47_3751-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) c.3682-47_3682-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC (n.3682-47_3682-46insGGCCCTCTCTCTCCCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTCTGAGGCC) | gnomAD v4 |
6 | g.33164521G>A | CA2678226415 | COL11A2 | n.670-48C>T c.4864-48C>T (n.4864-48C>T) c.4543-48C>T (n.4543-48C>T) c.4606-48C>T (n.4606-48C>T) n.654-48C>T c.4018-48C>T (n.4018-48C>T) c.4150-48C>T (n.4150-48C>T) c.3970-48C>T (n.3970-48C>T) c.3907-48C>T (n.3907-48C>T) c.3751-48C>T (n.3751-48C>T) c.3682-48C>T (n.3682-48C>T) | dbSNP gnomAD v4 |
6 | g.33164521G>T | CA2678226416 | COL11A2 | n.670-48C>A c.4864-48C>A (n.4864-48C>A) c.4543-48C>A (n.4543-48C>A) c.4606-48C>A (n.4606-48C>A) n.654-48C>A c.4018-48C>A (n.4018-48C>A) c.4150-48C>A (n.4150-48C>A) c.3970-48C>A (n.3970-48C>A) c.3907-48C>A (n.3907-48C>A) c.3751-48C>A (n.3751-48C>A) c.3682-48C>A (n.3682-48C>A) | gnomAD v4 |
6 | g.33164522C>A | CA2678226417 | COL11A2 | n.670-49G>T c.4864-49G>T (n.4864-49G>T) c.4543-49G>T (n.4543-49G>T) c.4606-49G>T (n.4606-49G>T) n.654-49G>T c.4018-49G>T (n.4018-49G>T) c.4150-49G>T (n.4150-49G>T) c.3970-49G>T (n.3970-49G>T) c.3907-49G>T (n.3907-49G>T) c.3751-49G>T (n.3751-49G>T) c.3682-49G>T (n.3682-49G>T) | gnomAD v4 |
6 | g.33164522C= | CA1619889994 | COL11A2 | n.670-49G= c.4864-49G= (n.4864-49G=) c.4543-49G= (n.4543-49G=) c.4606-49G= (n.4606-49G=) n.654-49G= c.4018-49G= (n.4018-49G=) c.4150-49G= (n.4150-49G=) c.3970-49G= (n.3970-49G=) c.3907-49G= (n.3907-49G=) c.3751-49G= (n.3751-49G=) c.3682-49G= (n.3682-49G=) | |
6 | g.33164522C>G | CA2678226418 | COL11A2 | n.670-49G>C c.4864-49G>C (n.4864-49G>C) c.4543-49G>C (n.4543-49G>C) c.4606-49G>C (n.4606-49G>C) n.654-49G>C c.4018-49G>C (n.4018-49G>C) c.4150-49G>C (n.4150-49G>C) c.3970-49G>C (n.3970-49G>C) c.3907-49G>C (n.3907-49G>C) c.3751-49G>C (n.3751-49G>C) c.3682-49G>C (n.3682-49G>C) | gnomAD v4 |
6 | g.33164522C>T | CA824029609 | COL11A2 | n.670-49G>A c.4864-49G>A (n.4864-49G>A) c.4543-49G>A (n.4543-49G>A) c.4606-49G>A (n.4606-49G>A) n.654-49G>A c.4018-49G>A (n.4018-49G>A) c.4150-49G>A (n.4150-49G>A) c.3970-49G>A (n.3970-49G>A) c.3907-49G>A (n.3907-49G>A) c.3751-49G>A (n.3751-49G>A) c.3682-49G>A (n.3682-49G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164523C>A | CA2578581081 | COL11A2 | n.670-50G>T c.4864-50G>T (n.4864-50G>T) c.4543-50G>T (n.4543-50G>T) c.4606-50G>T (n.4606-50G>T) n.654-50G>T c.4018-50G>T (n.4018-50G>T) c.4150-50G>T (n.4150-50G>T) c.3970-50G>T (n.3970-50G>T) c.3907-50G>T (n.3907-50G>T) c.3751-50G>T (n.3751-50G>T) c.3682-50G>T (n.3682-50G>T) | gnomAD v4 |
6 | g.33164524T>C | CA3749977 | COL11A2 | n.670-51A>G c.4864-51A>G (n.4864-51A>G) c.4543-51A>G (n.4543-51A>G) c.4606-51A>G (n.4606-51A>G) n.654-51A>G c.4018-51A>G (n.4018-51A>G) c.4150-51A>G (n.4150-51A>G) c.3970-51A>G (n.3970-51A>G) c.3907-51A>G (n.3907-51A>G) c.3751-51A>G (n.3751-51A>G) c.3682-51A>G (n.3682-51A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33164524T= | CA1619889997 | COL11A2 | n.670-51A= c.4864-51A= (n.4864-51A=) c.4543-51A= (n.4543-51A=) c.4606-51A= (n.4606-51A=) n.654-51A= c.4018-51A= (n.4018-51A=) c.4150-51A= (n.4150-51A=) c.3970-51A= (n.3970-51A=) c.3907-51A= (n.3907-51A=) c.3751-51A= (n.3751-51A=) c.3682-51A= (n.3682-51A=) | |
6 | g.33164526A>G | CA2678226421 | COL11A2 | n.670-53T>C c.4864-53T>C (n.4864-53T>C) c.4543-53T>C (n.4543-53T>C) c.4606-53T>C (n.4606-53T>C) n.654-53T>C c.4018-53T>C (n.4018-53T>C) c.4150-53T>C (n.4150-53T>C) c.3970-53T>C (n.3970-53T>C) c.3907-53T>C (n.3907-53T>C) c.3751-53T>C (n.3751-53T>C) c.3682-53T>C (n.3682-53T>C) | gnomAD v4 |
6 | g.33164526A>T | CA2678226420 | COL11A2 | n.670-53T>A c.4864-53T>A (n.4864-53T>A) c.4543-53T>A (n.4543-53T>A) c.4606-53T>A (n.4606-53T>A) n.654-53T>A c.4018-53T>A (n.4018-53T>A) c.4150-53T>A (n.4150-53T>A) c.3970-53T>A (n.3970-53T>A) c.3907-53T>A (n.3907-53T>A) c.3751-53T>A (n.3751-53T>A) c.3682-53T>A (n.3682-53T>A) | gnomAD v4 |
6 | g.33164527G>A | CA2678226422 | COL11A2 | n.670-54C>T c.4864-54C>T (n.4864-54C>T) c.4543-54C>T (n.4543-54C>T) c.4606-54C>T (n.4606-54C>T) n.654-54C>T c.4018-54C>T (n.4018-54C>T) c.4150-54C>T (n.4150-54C>T) c.3970-54C>T (n.3970-54C>T) c.3907-54C>T (n.3907-54C>T) c.3751-54C>T (n.3751-54C>T) c.3682-54C>T (n.3682-54C>T) | gnomAD v4 |
6 | g.33164527G>T | CA2678226423 | COL11A2 | n.670-54C>A c.4864-54C>A (n.4864-54C>A) c.4543-54C>A (n.4543-54C>A) c.4606-54C>A (n.4606-54C>A) n.654-54C>A c.4018-54C>A (n.4018-54C>A) c.4150-54C>A (n.4150-54C>A) c.3970-54C>A (n.3970-54C>A) c.3907-54C>A (n.3907-54C>A) c.3751-54C>A (n.3751-54C>A) c.3682-54C>A (n.3682-54C>A) | gnomAD v4 |
6 | g.33164528A>C | CA2578581082 | COL11A2 | n.670-55T>G c.4864-55T>G (n.4864-55T>G) c.4543-55T>G (n.4543-55T>G) c.4606-55T>G (n.4606-55T>G) n.654-55T>G c.4018-55T>G (n.4018-55T>G) c.4150-55T>G (n.4150-55T>G) c.3970-55T>G (n.3970-55T>G) c.3907-55T>G (n.3907-55T>G) c.3751-55T>G (n.3751-55T>G) c.3682-55T>G (n.3682-55T>G) | gnomAD v4 |
6 | g.33164528A>G | CA2678226424 | COL11A2 | n.670-55T>C c.4864-55T>C (n.4864-55T>C) c.4543-55T>C (n.4543-55T>C) c.4606-55T>C (n.4606-55T>C) n.654-55T>C c.4018-55T>C (n.4018-55T>C) c.4150-55T>C (n.4150-55T>C) c.3970-55T>C (n.3970-55T>C) c.3907-55T>C (n.3907-55T>C) c.3751-55T>C (n.3751-55T>C) c.3682-55T>C (n.3682-55T>C) | gnomAD v4 |
6 | g.33164528A>T | CA2678226425 | COL11A2 | n.670-55T>A c.4864-55T>A (n.4864-55T>A) c.4543-55T>A (n.4543-55T>A) c.4606-55T>A (n.4606-55T>A) n.654-55T>A c.4018-55T>A (n.4018-55T>A) c.4150-55T>A (n.4150-55T>A) c.3970-55T>A (n.3970-55T>A) c.3907-55T>A (n.3907-55T>A) c.3751-55T>A (n.3751-55T>A) c.3682-55T>A (n.3682-55T>A) | gnomAD v4 |
6 | g.33164529G>A | CA2678226427 | COL11A2 | n.670-56C>T c.4864-56C>T (n.4864-56C>T) c.4543-56C>T (n.4543-56C>T) c.4606-56C>T (n.4606-56C>T) n.654-56C>T c.4018-56C>T (n.4018-56C>T) c.4150-56C>T (n.4150-56C>T) c.3970-56C>T (n.3970-56C>T) c.3907-56C>T (n.3907-56C>T) c.3751-56C>T (n.3751-56C>T) c.3682-56C>T (n.3682-56C>T) | gnomAD v4 |
6 | g.33164529G>T | CA2678226428 | COL11A2 | n.670-56C>A c.4864-56C>A (n.4864-56C>A) c.4543-56C>A (n.4543-56C>A) c.4606-56C>A (n.4606-56C>A) n.654-56C>A c.4018-56C>A (n.4018-56C>A) c.4150-56C>A (n.4150-56C>A) c.3970-56C>A (n.3970-56C>A) c.3907-56C>A (n.3907-56C>A) c.3751-56C>A (n.3751-56C>A) c.3682-56C>A (n.3682-56C>A) | gnomAD v4 |
6 | g.33164530_33164531dup | CA2678226426 | COL11A2 | n.670-57_670-56dup c.4864-57_4864-56dup (n.4864-57_4864-56dup) c.4543-57_4543-56dup (n.4543-57_4543-56dup) c.4606-57_4606-56dup (n.4606-57_4606-56dup) n.654-57_654-56dup c.4018-57_4018-56dup (n.4018-57_4018-56dup) c.4150-57_4150-56dup (n.4150-57_4150-56dup) c.3970-57_3970-56dup (n.3970-57_3970-56dup) c.3907-57_3907-56dup (n.3907-57_3907-56dup) c.3751-57_3751-56dup (n.3751-57_3751-56dup) c.3682-57_3682-56dup (n.3682-57_3682-56dup) | gnomAD v4 |
6 | g.33164530G>A | CA2678226429 | COL11A2 | n.670-57C>T c.4864-57C>T (n.4864-57C>T) c.4543-57C>T (n.4543-57C>T) c.4606-57C>T (n.4606-57C>T) n.654-57C>T c.4018-57C>T (n.4018-57C>T) c.4150-57C>T (n.4150-57C>T) c.3970-57C>T (n.3970-57C>T) c.3907-57C>T (n.3907-57C>T) c.3751-57C>T (n.3751-57C>T) c.3682-57C>T (n.3682-57C>T) | gnomAD v4 |
6 | g.33164530G>C | CA824029612 | COL11A2 | n.670-57C>G c.4864-57C>G (n.4864-57C>G) c.4543-57C>G (n.4543-57C>G) c.4606-57C>G (n.4606-57C>G) n.654-57C>G c.4018-57C>G (n.4018-57C>G) c.4150-57C>G (n.4150-57C>G) c.3970-57C>G (n.3970-57C>G) c.3907-57C>G (n.3907-57C>G) c.3751-57C>G (n.3751-57C>G) c.3682-57C>G (n.3682-57C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164530G= | CA1619889999 | COL11A2 | n.670-57C= c.4864-57C= (n.4864-57C=) c.4543-57C= (n.4543-57C=) c.4606-57C= (n.4606-57C=) n.654-57C= c.4018-57C= (n.4018-57C=) c.4150-57C= (n.4150-57C=) c.3970-57C= (n.3970-57C=) c.3907-57C= (n.3907-57C=) c.3751-57C= (n.3751-57C=) c.3682-57C= (n.3682-57C=) | |
6 | g.33164530G>T | CA2678226430 | COL11A2 | n.670-57C>A c.4864-57C>A (n.4864-57C>A) c.4543-57C>A (n.4543-57C>A) c.4606-57C>A (n.4606-57C>A) n.654-57C>A c.4018-57C>A (n.4018-57C>A) c.4150-57C>A (n.4150-57C>A) c.3970-57C>A (n.3970-57C>A) c.3907-57C>A (n.3907-57C>A) c.3751-57C>A (n.3751-57C>A) c.3682-57C>A (n.3682-57C>A) | gnomAD v4 |
6 | g.33164531G>C | CA1619890001 | COL11A2 | n.670-58C>G c.4864-58C>G (n.4864-58C>G) c.4543-58C>G (n.4543-58C>G) c.4606-58C>G (n.4606-58C>G) n.654-58C>G c.4018-58C>G (n.4018-58C>G) c.4150-58C>G (n.4150-58C>G) c.3970-58C>G (n.3970-58C>G) c.3907-58C>G (n.3907-58C>G) c.3751-58C>G (n.3751-58C>G) c.3682-58C>G (n.3682-58C>G) | dbSNP |
6 | g.33164531G= | CA1619890003 | COL11A2 | n.670-58C= c.4864-58C= (n.4864-58C=) c.4543-58C= (n.4543-58C=) c.4606-58C= (n.4606-58C=) n.654-58C= c.4018-58C= (n.4018-58C=) c.4150-58C= (n.4150-58C=) c.3970-58C= (n.3970-58C=) c.3907-58C= (n.3907-58C=) c.3751-58C= (n.3751-58C=) c.3682-58C= (n.3682-58C=) | |
6 | g.33164531G>T | CA2678226431 | COL11A2 | n.670-58C>A c.4864-58C>A (n.4864-58C>A) c.4543-58C>A (n.4543-58C>A) c.4606-58C>A (n.4606-58C>A) n.654-58C>A c.4018-58C>A (n.4018-58C>A) c.4150-58C>A (n.4150-58C>A) c.3970-58C>A (n.3970-58C>A) c.3907-58C>A (n.3907-58C>A) c.3751-58C>A (n.3751-58C>A) c.3682-58C>A (n.3682-58C>A) | gnomAD v4 |
6 | g.33164532A= | CA1619890004 | COL11A2 | n.670-59T= c.4864-59T= (n.4864-59T=) c.4543-59T= (n.4543-59T=) c.4606-59T= (n.4606-59T=) n.654-59T= c.4018-59T= (n.4018-59T=) c.4150-59T= (n.4150-59T=) c.3970-59T= (n.3970-59T=) c.3907-59T= (n.3907-59T=) c.3751-59T= (n.3751-59T=) c.3682-59T= (n.3682-59T=) | |
6 | g.33164532A>G | CA1087647543 | COL11A2 | n.670-59T>C c.4864-59T>C (n.4864-59T>C) c.4543-59T>C (n.4543-59T>C) c.4606-59T>C (n.4606-59T>C) n.654-59T>C c.4018-59T>C (n.4018-59T>C) c.4150-59T>C (n.4150-59T>C) c.3970-59T>C (n.3970-59T>C) c.3907-59T>C (n.3907-59T>C) c.3751-59T>C (n.3751-59T>C) c.3682-59T>C (n.3682-59T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33164532A>T | CA2678226432 | COL11A2 | n.670-59T>A c.4864-59T>A (n.4864-59T>A) c.4543-59T>A (n.4543-59T>A) c.4606-59T>A (n.4606-59T>A) n.654-59T>A c.4018-59T>A (n.4018-59T>A) c.4150-59T>A (n.4150-59T>A) c.3970-59T>A (n.3970-59T>A) c.3907-59T>A (n.3907-59T>A) c.3751-59T>A (n.3751-59T>A) c.3682-59T>A (n.3682-59T>A) | gnomAD v4 |