| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33164859A= | CA1619890415 | COL11A2 | n.662T= c.4856T= (p.Val1619=) c.4535T= (p.Val1512=) c.4598T= (p.Val1533=) n.646T= c.4010T= (p.Val1337=) c.4142T= (p.Val1381=) c.3962T= (p.Val1321=) c.3899T= (p.Val1300=) c.3743T= (p.Val1248=) c.3674T= (p.Val1225=) | |
| 6 | g.33164859A>C | CA363617391 | COL11A2 | n.662T>G c.4856T>G (p.Val1619Gly) c.4535T>G (p.Val1512Gly) c.4598T>G (p.Val1533Gly) n.646T>G c.4010T>G (p.Val1337Gly) c.4142T>G (p.Val1381Gly) c.3962T>G (p.Val1321Gly) c.3899T>G (p.Val1300Gly) c.3743T>G (p.Val1248Gly) c.3674T>G (p.Val1225Gly) | |
| 6 | g.33164859A>G | CA3749987 | COL11A2 | n.662T>C c.4856T>C (p.Val1619Ala) c.4535T>C (p.Val1512Ala) c.4598T>C (p.Val1533Ala) n.646T>C c.4010T>C (p.Val1337Ala) c.4142T>C (p.Val1381Ala) c.3962T>C (p.Val1321Ala) c.3899T>C (p.Val1300Ala) c.3743T>C (p.Val1248Ala) c.3674T>C (p.Val1225Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33164859A>T | CA363617387 | COL11A2 | n.662T>A c.4856T>A (p.Val1619Asp) c.4535T>A (p.Val1512Asp) c.4598T>A (p.Val1533Asp) n.646T>A c.4010T>A (p.Val1337Asp) c.4142T>A (p.Val1381Asp) c.3962T>A (p.Val1321Asp) c.3899T>A (p.Val1300Asp) c.3743T>A (p.Val1248Asp) c.3674T>A (p.Val1225Asp) | dbSNP gnomAD v2 |
| 6 | g.33164860C>A | CA363617394 | COL11A2 | n.661G>T c.4855G>T (p.Val1619Phe) c.4534G>T (p.Val1512Phe) c.4597G>T (p.Val1533Phe) n.645G>T c.4009G>T (p.Val1337Phe) c.4141G>T (p.Val1381Phe) c.3961G>T (p.Val1321Phe) c.3898G>T (p.Val1300Phe) c.3742G>T (p.Val1248Phe) c.3673G>T (p.Val1225Phe) | |
| 6 | g.33164860C= | CA1619890421 | COL11A2 | n.661G= c.4855G= (p.Val1619=) c.4534G= (p.Val1512=) c.4597G= (p.Val1533=) n.645G= c.4009G= (p.Val1337=) c.4141G= (p.Val1381=) c.3961G= (p.Val1321=) c.3898G= (p.Val1300=) c.3742G= (p.Val1248=) c.3673G= (p.Val1225=) | |
| 6 | g.33164860C>G | CA363617395 | COL11A2 | n.661G>C c.4855G>C (p.Val1619Leu) c.4534G>C (p.Val1512Leu) c.4597G>C (p.Val1533Leu) n.645G>C c.4009G>C (p.Val1337Leu) c.4141G>C (p.Val1381Leu) c.3961G>C (p.Val1321Leu) c.3898G>C (p.Val1300Leu) c.3742G>C (p.Val1248Leu) c.3673G>C (p.Val1225Leu) | |
| 6 | g.33164860C>T | CA363617396 | COL11A2 | n.661G>A c.4855G>A (p.Val1619Ile) c.4534G>A (p.Val1512Ile) c.4597G>A (p.Val1533Ile) n.645G>A c.4009G>A (p.Val1337Ile) c.4141G>A (p.Val1381Ile) c.3961G>A (p.Val1321Ile) c.3898G>A (p.Val1300Ile) c.3742G>A (p.Val1248Ile) c.3673G>A (p.Val1225Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33164861G>A | CA3749988 | COL11A2 | n.660C>T c.4854C>T (p.Asp1618=) c.4533C>T (p.Asp1511=) c.4596C>T (p.Asp1532=) n.644C>T c.4008C>T (p.Asp1336=) c.4140C>T (p.Asp1380=) c.3960C>T (p.Asp1320=) c.3897C>T (p.Asp1299=) c.3741C>T (p.Asp1247=) c.3672C>T (p.Asp1224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33164861G>C | CA3749989 | COL11A2 | n.660C>G c.4854C>G (p.Asp1618Glu) c.4533C>G (p.Asp1511Glu) c.4596C>G (p.Asp1532Glu) n.644C>G c.4008C>G (p.Asp1336Glu) c.4140C>G (p.Asp1380Glu) c.3960C>G (p.Asp1320Glu) c.3897C>G (p.Asp1299Glu) c.3741C>G (p.Asp1247Glu) c.3672C>G (p.Asp1224Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.33164861G= | CA1619890425 | COL11A2 | n.660C= c.4854C= (p.Asp1618=) c.4533C= (p.Asp1511=) c.4596C= (p.Asp1532=) n.644C= c.4008C= (p.Asp1336=) c.4140C= (p.Asp1380=) c.3960C= (p.Asp1320=) c.3897C= (p.Asp1299=) c.3741C= (p.Asp1247=) c.3672C= (p.Asp1224=) | |
| 6 | g.33164861G>T | CA363617400 | COL11A2 | n.660C>A c.4854C>A (p.Asp1618Glu) c.4533C>A (p.Asp1511Glu) c.4596C>A (p.Asp1532Glu) n.644C>A c.4008C>A (p.Asp1336Glu) c.4140C>A (p.Asp1380Glu) c.3960C>A (p.Asp1320Glu) c.3897C>A (p.Asp1299Glu) c.3741C>A (p.Asp1247Glu) c.3672C>A (p.Asp1224Glu) | ClinVar |
| 6 | g.33164862T>A | CA363617401 | COL11A2 | n.659A>T c.4853A>T (p.Asp1618Val) c.4532A>T (p.Asp1511Val) c.4595A>T (p.Asp1532Val) n.643A>T c.4007A>T (p.Asp1336Val) c.4139A>T (p.Asp1380Val) c.3959A>T (p.Asp1320Val) c.3896A>T (p.Asp1299Val) c.3740A>T (p.Asp1247Val) c.3671A>T (p.Asp1224Val) | |
| 6 | g.33164862T>C | CA363617405 | COL11A2 | n.659A>G c.4853A>G (p.Asp1618Gly) c.4532A>G (p.Asp1511Gly) c.4595A>G (p.Asp1532Gly) n.643A>G c.4007A>G (p.Asp1336Gly) c.4139A>G (p.Asp1380Gly) c.3959A>G (p.Asp1320Gly) c.3896A>G (p.Asp1299Gly) c.3740A>G (p.Asp1247Gly) c.3671A>G (p.Asp1224Gly) | |
| 6 | g.33164862T>G | CA363617403 | COL11A2 | n.659A>C c.4853A>C (p.Asp1618Ala) c.4532A>C (p.Asp1511Ala) c.4595A>C (p.Asp1532Ala) n.643A>C c.4007A>C (p.Asp1336Ala) c.4139A>C (p.Asp1380Ala) c.3959A>C (p.Asp1320Ala) c.3896A>C (p.Asp1299Ala) c.3740A>C (p.Asp1247Ala) c.3671A>C (p.Asp1224Ala) | |
| 6 | g.33164863C>A | CA363617406 | COL11A2 | n.658G>T c.4852G>T (p.Asp1618Tyr) c.4531G>T (p.Asp1511Tyr) c.4594G>T (p.Asp1532Tyr) n.642G>T c.4006G>T (p.Asp1336Tyr) c.4138G>T (p.Asp1380Tyr) c.3958G>T (p.Asp1320Tyr) c.3895G>T (p.Asp1299Tyr) c.3739G>T (p.Asp1247Tyr) c.3670G>T (p.Asp1224Tyr) | gnomAD v4 |
| 6 | g.33164863C>G | CA363617408 | COL11A2 | n.658G>C c.4852G>C (p.Asp1618His) c.4531G>C (p.Asp1511His) c.4594G>C (p.Asp1532His) n.642G>C c.4006G>C (p.Asp1336His) c.4138G>C (p.Asp1380His) c.3958G>C (p.Asp1320His) c.3895G>C (p.Asp1299His) c.3739G>C (p.Asp1247His) c.3670G>C (p.Asp1224His) | |
| 6 | g.33164863C>T | CA363617410 | COL11A2 | n.658G>A c.4852G>A (p.Asp1618Asn) c.4531G>A (p.Asp1511Asn) c.4594G>A (p.Asp1532Asn) n.642G>A c.4006G>A (p.Asp1336Asn) c.4138G>A (p.Asp1380Asn) c.3958G>A (p.Asp1320Asn) c.3895G>A (p.Asp1299Asn) c.3739G>A (p.Asp1247Asn) c.3670G>A (p.Asp1224Asn) | |
| 6 | g.33164864A>C | CA363617412 | COL11A2 | n.657T>G c.4851T>G (p.Asp1617Glu) c.4530T>G (p.Asp1510Glu) c.4593T>G (p.Asp1531Glu) n.641T>G c.4005T>G (p.Asp1335Glu) c.4137T>G (p.Asp1379Glu) c.3957T>G (p.Asp1319Glu) c.3894T>G (p.Asp1298Glu) c.3738T>G (p.Asp1246Glu) c.3669T>G (p.Asp1223Glu) | |
| 6 | g.33164864A>G | CA449867243 | COL11A2 | n.657T>C c.4851T>C (p.Asp1617=) c.4530T>C (p.Asp1510=) c.4593T>C (p.Asp1531=) n.641T>C c.4005T>C (p.Asp1335=) c.4137T>C (p.Asp1379=) c.3957T>C (p.Asp1319=) c.3894T>C (p.Asp1298=) c.3738T>C (p.Asp1246=) c.3669T>C (p.Asp1223=) | |
| 6 | g.33164864A>T | CA363617413 | COL11A2 | n.657T>A c.4851T>A (p.Asp1617Glu) c.4530T>A (p.Asp1510Glu) c.4593T>A (p.Asp1531Glu) n.641T>A c.4005T>A (p.Asp1335Glu) c.4137T>A (p.Asp1379Glu) c.3957T>A (p.Asp1319Glu) c.3894T>A (p.Asp1298Glu) c.3738T>A (p.Asp1246Glu) c.3669T>A (p.Asp1223Glu) | |
| 6 | g.33164865T>A | CA363617417 | COL11A2 | n.656A>T c.4850A>T (p.Asp1617Val) c.4529A>T (p.Asp1510Val) c.4592A>T (p.Asp1531Val) n.640A>T c.4004A>T (p.Asp1335Val) c.4136A>T (p.Asp1379Val) c.3956A>T (p.Asp1319Val) c.3893A>T (p.Asp1298Val) c.3737A>T (p.Asp1246Val) c.3668A>T (p.Asp1223Val) | |
| 6 | g.33164865T>C | CA363617419 | COL11A2 | n.656A>G c.4850A>G (p.Asp1617Gly) c.4529A>G (p.Asp1510Gly) c.4592A>G (p.Asp1531Gly) n.640A>G c.4004A>G (p.Asp1335Gly) c.4136A>G (p.Asp1379Gly) c.3956A>G (p.Asp1319Gly) c.3893A>G (p.Asp1298Gly) c.3737A>G (p.Asp1246Gly) c.3668A>G (p.Asp1223Gly) | |
| 6 | g.33164865T>G | CA363617420 | COL11A2 | n.656A>C c.4850A>C (p.Asp1617Ala) c.4529A>C (p.Asp1510Ala) c.4592A>C (p.Asp1531Ala) n.640A>C c.4004A>C (p.Asp1335Ala) c.4136A>C (p.Asp1379Ala) c.3956A>C (p.Asp1319Ala) c.3893A>C (p.Asp1298Ala) c.3737A>C (p.Asp1246Ala) c.3668A>C (p.Asp1223Ala) | |
| 6 | g.33164865_33164866delinsTC | CA1619890432 | COL11A2 | n.655_656delinsGA c.4849_4850delinsGA (p.Asp1617=) c.4528_4529delinsGA (p.Asp1510=) c.4591_4592delinsGA (p.Asp1531=) n.639_640delinsGA c.4003_4004delinsGA (p.Asp1335=) c.4135_4136delinsGA (p.Asp1379=) c.3955_3956delinsGA (p.Asp1319=) c.3892_3893delinsGA (p.Asp1298=) c.3736_3737delinsGA (p.Asp1246=) c.3667_3668delinsGA (p.Asp1223=) | |
| 6 | g.33164866C>A | CA363617422 | COL11A2 | n.655G>T c.4849G>T (p.Asp1617Tyr) c.4528G>T (p.Asp1510Tyr) c.4591G>T (p.Asp1531Tyr) n.639G>T c.4003G>T (p.Asp1335Tyr) c.4135G>T (p.Asp1379Tyr) c.3955G>T (p.Asp1319Tyr) c.3892G>T (p.Asp1298Tyr) c.3736G>T (p.Asp1246Tyr) c.3667G>T (p.Asp1223Tyr) | dbSNP gnomAD v4 |
| 6 | g.33164866C= | CA1619890436 | COL11A2 | n.655G= c.4849G= (p.Asp1617=) c.4528G= (p.Asp1510=) c.4591G= (p.Asp1531=) n.639G= c.4003G= (p.Asp1335=) c.4135G= (p.Asp1379=) c.3955G= (p.Asp1319=) c.3892G= (p.Asp1298=) c.3736G= (p.Asp1246=) c.3667G= (p.Asp1223=) | |
| 6 | g.33164866C>G | CA363617424 | COL11A2 | n.655G>C c.4849G>C (p.Asp1617His) c.4528G>C (p.Asp1510His) c.4591G>C (p.Asp1531His) n.639G>C c.4003G>C (p.Asp1335His) c.4135G>C (p.Asp1379His) c.3955G>C (p.Asp1319His) c.3892G>C (p.Asp1298His) c.3736G>C (p.Asp1246His) c.3667G>C (p.Asp1223His) | |
| 6 | g.33164866C>T | CA363617426 | COL11A2 | n.655G>A c.4849G>A (p.Asp1617Asn) c.4528G>A (p.Asp1510Asn) c.4591G>A (p.Asp1531Asn) n.639G>A c.4003G>A (p.Asp1335Asn) c.4135G>A (p.Asp1379Asn) c.3955G>A (p.Asp1319Asn) c.3892G>A (p.Asp1298Asn) c.3736G>A (p.Asp1246Asn) c.3667G>A (p.Asp1223Asn) | |
| 6 | g.33164868del | CA566424989 | COL11A2 | n.655del c.4849del (p.Asp1617MetfsTer?) c.4528del (p.Asp1510MetfsTer?) c.4591del (p.Asp1531MetfsTer?) n.639del c.4003del (p.Asp1335MetfsTer?) c.4135del (p.Asp1379MetfsTer?) c.3955del (p.Asp1319MetfsTer?) c.3892del (p.Asp1298MetfsTer?) c.3736del (p.Asp1246MetfsTer?) c.3667del (p.Asp1223MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33164867C>A | CA363617430 | COL11A2 | n.654G>T c.4848G>T (p.Arg1616Ser) c.4527G>T (p.Arg1509Ser) c.4590G>T (p.Arg1530Ser) n.638G>T c.4002G>T (p.Arg1334Ser) c.4134G>T (p.Arg1378Ser) c.3954G>T (p.Arg1318Ser) c.3891G>T (p.Arg1297Ser) c.3735G>T (p.Arg1245Ser) c.3666G>T (p.Arg1222Ser) | gnomAD v4 |
| 6 | g.33164867C>G | CA363617428 | COL11A2 | n.654G>C c.4848G>C (p.Arg1616Ser) c.4527G>C (p.Arg1509Ser) c.4590G>C (p.Arg1530Ser) n.638G>C c.4002G>C (p.Arg1334Ser) c.4134G>C (p.Arg1378Ser) c.3954G>C (p.Arg1318Ser) c.3891G>C (p.Arg1297Ser) c.3735G>C (p.Arg1245Ser) c.3666G>C (p.Arg1222Ser) | |
| 6 | g.33164867C>T | CA449867248 | COL11A2 | n.654G>A c.4848G>A (p.Arg1616=) c.4527G>A (p.Arg1509=) c.4590G>A (p.Arg1530=) n.638G>A c.4002G>A (p.Arg1334=) c.4134G>A (p.Arg1378=) c.3954G>A (p.Arg1318=) c.3891G>A (p.Arg1297=) c.3735G>A (p.Arg1245=) c.3666G>A (p.Arg1222=) | |
| 6 | g.33164868C>A | CA363617432 | COL11A2 | n.653G>T c.4847G>T (p.Arg1616Met) c.4526G>T (p.Arg1509Met) c.4589G>T (p.Arg1530Met) n.637G>T c.4001G>T (p.Arg1334Met) c.4133G>T (p.Arg1378Met) c.3953G>T (p.Arg1318Met) c.3890G>T (p.Arg1297Met) c.3734G>T (p.Arg1245Met) c.3665G>T (p.Arg1222Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.33164868C= | CA1619890441 | COL11A2 | n.653G= c.4847G= (p.Arg1616=) c.4526G= (p.Arg1509=) c.4589G= (p.Arg1530=) n.637G= c.4001G= (p.Arg1334=) c.4133G= (p.Arg1378=) c.3953G= (p.Arg1318=) c.3890G= (p.Arg1297=) c.3734G= (p.Arg1245=) c.3665G= (p.Arg1222=) | |
| 6 | g.33164868C>G | CA363617436 | COL11A2 | n.653G>C c.4847G>C (p.Arg1616Thr) c.4526G>C (p.Arg1509Thr) c.4589G>C (p.Arg1530Thr) n.637G>C c.4001G>C (p.Arg1334Thr) c.4133G>C (p.Arg1378Thr) c.3953G>C (p.Arg1318Thr) c.3890G>C (p.Arg1297Thr) c.3734G>C (p.Arg1245Thr) c.3665G>C (p.Arg1222Thr) | |
| 6 | g.33164868C>T | CA363617434 | COL11A2 | n.653G>A c.4847G>A (p.Arg1616Lys) c.4526G>A (p.Arg1509Lys) c.4589G>A (p.Arg1530Lys) n.637G>A c.4001G>A (p.Arg1334Lys) c.4133G>A (p.Arg1378Lys) c.3953G>A (p.Arg1318Lys) c.3890G>A (p.Arg1297Lys) c.3734G>A (p.Arg1245Lys) c.3665G>A (p.Arg1222Lys) | ClinVar |
| 6 | g.33164869T>A | CA363617438 | COL11A2 | n.652A>T c.4846A>T (p.Arg1616Trp) c.4525A>T (p.Arg1509Trp) c.4588A>T (p.Arg1530Trp) n.636A>T c.4000A>T (p.Arg1334Trp) c.4132A>T (p.Arg1378Trp) c.3952A>T (p.Arg1318Trp) c.3889A>T (p.Arg1297Trp) c.3733A>T (p.Arg1245Trp) c.3664A>T (p.Arg1222Trp) | |
| 6 | g.33164869T>C | CA363617439 | COL11A2 | n.652A>G c.4846A>G (p.Arg1616Gly) c.4525A>G (p.Arg1509Gly) c.4588A>G (p.Arg1530Gly) n.636A>G c.4000A>G (p.Arg1334Gly) c.4132A>G (p.Arg1378Gly) c.3952A>G (p.Arg1318Gly) c.3889A>G (p.Arg1297Gly) c.3733A>G (p.Arg1245Gly) c.3664A>G (p.Arg1222Gly) | |
| 6 | g.33164869T>G | CA449867252 | COL11A2 | n.652A>C c.4846A>C (p.Arg1616=) c.4525A>C (p.Arg1509=) c.4588A>C (p.Arg1530=) n.636A>C c.4000A>C (p.Arg1334=) c.4132A>C (p.Arg1378=) c.3952A>C (p.Arg1318=) c.3889A>C (p.Arg1297=) c.3733A>C (p.Arg1245=) c.3664A>C (p.Arg1222=) | |
| 6 | g.33164870A>C | CA449867255 | COL11A2 | n.651T>G c.4845T>G (p.Pro1615=) c.4524T>G (p.Pro1508=) c.4587T>G (p.Pro1529=) n.635T>G c.3999T>G (p.Pro1333=) c.4131T>G (p.Pro1377=) c.3951T>G (p.Pro1317=) c.3888T>G (p.Pro1296=) c.3732T>G (p.Pro1244=) c.3663T>G (p.Pro1221=) | |
| 6 | g.33164870A>G | CA449867256 | COL11A2 | n.651T>C c.4845T>C (p.Pro1615=) c.4524T>C (p.Pro1508=) c.4587T>C (p.Pro1529=) n.635T>C c.3999T>C (p.Pro1333=) c.4131T>C (p.Pro1377=) c.3951T>C (p.Pro1317=) c.3888T>C (p.Pro1296=) c.3732T>C (p.Pro1244=) c.3663T>C (p.Pro1221=) | gnomAD v4 |
| 6 | g.33164870A>T | CA449867257 | COL11A2 | n.651T>A c.4845T>A (p.Pro1615=) c.4524T>A (p.Pro1508=) c.4587T>A (p.Pro1529=) n.635T>A c.3999T>A (p.Pro1333=) c.4131T>A (p.Pro1377=) c.3951T>A (p.Pro1317=) c.3888T>A (p.Pro1296=) c.3732T>A (p.Pro1244=) c.3663T>A (p.Pro1221=) | |
| 6 | g.33164871G>A | CA363617442 | COL11A2 | n.650C>T c.4844C>T (p.Pro1615Leu) c.4523C>T (p.Pro1508Leu) c.4586C>T (p.Pro1529Leu) n.634C>T c.3998C>T (p.Pro1333Leu) c.4130C>T (p.Pro1377Leu) c.3950C>T (p.Pro1317Leu) c.3887C>T (p.Pro1296Leu) c.3731C>T (p.Pro1244Leu) c.3662C>T (p.Pro1221Leu) | |
| 6 | g.33164871G>C | CA363617445 | COL11A2 | n.650C>G c.4844C>G (p.Pro1615Arg) c.4523C>G (p.Pro1508Arg) c.4586C>G (p.Pro1529Arg) n.634C>G c.3998C>G (p.Pro1333Arg) c.4130C>G (p.Pro1377Arg) c.3950C>G (p.Pro1317Arg) c.3887C>G (p.Pro1296Arg) c.3731C>G (p.Pro1244Arg) c.3662C>G (p.Pro1221Arg) | |
| 6 | g.33164871G>T | CA363617444 | COL11A2 | n.650C>A c.4844C>A (p.Pro1615His) c.4523C>A (p.Pro1508His) c.4586C>A (p.Pro1529His) n.634C>A c.3998C>A (p.Pro1333His) c.4130C>A (p.Pro1377His) c.3950C>A (p.Pro1317His) c.3887C>A (p.Pro1296His) c.3731C>A (p.Pro1244His) c.3662C>A (p.Pro1221His) | gnomAD v4 |
| 6 | g.33164872del | CA2678226910 | COL11A2 | n.650del c.4844del (p.Pro1615LeufsTer?) c.4523del (p.Pro1508LeufsTer?) c.4586del (p.Pro1529LeufsTer?) n.634del c.3998del (p.Pro1333LeufsTer?) c.4130del (p.Pro1377LeufsTer?) c.3950del (p.Pro1317LeufsTer?) c.3887del (p.Pro1296LeufsTer?) c.3731del (p.Pro1244LeufsTer?) c.3662del (p.Pro1221LeufsTer?) | gnomAD v4 |
| 6 | g.33164872G>A | CA363617448 | COL11A2 | n.649C>T c.4843C>T (p.Pro1615Ser) c.4522C>T (p.Pro1508Ser) c.4585C>T (p.Pro1529Ser) n.633C>T c.3997C>T (p.Pro1333Ser) c.4129C>T (p.Pro1377Ser) c.3949C>T (p.Pro1317Ser) c.3886C>T (p.Pro1296Ser) c.3730C>T (p.Pro1244Ser) c.3661C>T (p.Pro1221Ser) | ClinVar gnomAD v4 |
| 6 | g.33164872G>C | CA363617450 | COL11A2 | n.649C>G c.4843C>G (p.Pro1615Ala) c.4522C>G (p.Pro1508Ala) c.4585C>G (p.Pro1529Ala) n.633C>G c.3997C>G (p.Pro1333Ala) c.4129C>G (p.Pro1377Ala) c.3949C>G (p.Pro1317Ala) c.3886C>G (p.Pro1296Ala) c.3730C>G (p.Pro1244Ala) c.3661C>G (p.Pro1221Ala) | |
| 6 | g.33164872G>T | CA363617451 | COL11A2 | n.649C>A c.4843C>A (p.Pro1615Thr) c.4522C>A (p.Pro1508Thr) c.4585C>A (p.Pro1529Thr) n.633C>A c.3997C>A (p.Pro1333Thr) c.4129C>A (p.Pro1377Thr) c.3949C>A (p.Pro1317Thr) c.3886C>A (p.Pro1296Thr) c.3730C>A (p.Pro1244Thr) c.3661C>A (p.Pro1221Thr) | gnomAD v4 |