Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33164908_33164909insCAGAGCTTTGCACA2678226374COL11A2n.617_618insAGCTCTGTGCAA
c.4811_4812insAGCTCTGTGCAA (p.Cys1603_Asn1604insLysAlaLeuCys)
c.4490_4491insAGCTCTGTGCAA (p.Cys1496_Asn1497insLysAlaLeuCys)
c.4553_4554insAGCTCTGTGCAA (p.Cys1517_Asn1518insLysAlaLeuCys)
n.601_602insAGCTCTGTGCAA
c.3965_3966insAGCTCTGTGCAA (p.Cys1321_Asn1322insLysAlaLeuCys)
c.4097_4098insAGCTCTGTGCAA (p.Cys1365_Asn1366insLysAlaLeuCys)
c.3917_3918insAGCTCTGTGCAA (p.Cys1305_Asn1306insLysAlaLeuCys)
c.3854_3855insAGCTCTGTGCAA (p.Cys1284_Asn1285insLysAlaLeuCys)
c.3698_3699insAGCTCTGTGCAA (p.Cys1232_Asn1233insLysAlaLeuCys)
c.3629_3630insAGCTCTGTGCAA (p.Cys1209_Asn1210insLysAlaLeuCys)
 gnomAD v4
6g.33164906G>ACA449867297COL11A2n.615C>T
c.4809C>T (p.Cys1603=)
c.4488C>T (p.Cys1496=)
c.4551C>T (p.Cys1517=)
n.599C>T
c.3963C>T (p.Cys1321=)
c.4095C>T (p.Cys1365=)
c.3915C>T (p.Cys1305=)
c.3852C>T (p.Cys1284=)
c.3696C>T (p.Cys1232=)
c.3627C>T (p.Cys1209=)
 gnomAD v4
6g.33164906G>CCA363617592COL11A2n.615C>G
c.4809C>G (p.Cys1603Trp)
c.4488C>G (p.Cys1496Trp)
c.4551C>G (p.Cys1517Trp)
n.599C>G
c.3963C>G (p.Cys1321Trp)
c.4095C>G (p.Cys1365Trp)
c.3915C>G (p.Cys1305Trp)
c.3852C>G (p.Cys1284Trp)
c.3696C>G (p.Cys1232Trp)
c.3627C>G (p.Cys1209Trp)
6g.33164906G>TCA363617593COL11A2n.615C>A
c.4809C>A (p.Cys1603Ter)
c.4488C>A (p.Cys1496Ter)
c.4551C>A (p.Cys1517Ter)
n.599C>A
c.3963C>A (p.Cys1321Ter)
c.4095C>A (p.Cys1365Ter)
c.3915C>A (p.Cys1305Ter)
c.3852C>A (p.Cys1284Ter)
c.3696C>A (p.Cys1232Ter)
c.3627C>A (p.Cys1209Ter)
 gnomAD v4
6g.33164907C>ACA363617595COL11A2n.614G>T
c.4808G>T (p.Cys1603Phe)
c.4487G>T (p.Cys1496Phe)
c.4550G>T (p.Cys1517Phe)
n.598G>T
c.3962G>T (p.Cys1321Phe)
c.4094G>T (p.Cys1365Phe)
c.3914G>T (p.Cys1305Phe)
c.3851G>T (p.Cys1284Phe)
c.3695G>T (p.Cys1232Phe)
c.3626G>T (p.Cys1209Phe)
 gnomAD v4
6g.33164907C=CA1619890517COL11A2n.614G=
c.4808G= (p.Cys1603=)
c.4487G= (p.Cys1496=)
c.4550G= (p.Cys1517=)
n.598G=
c.3962G= (p.Cys1321=)
c.4094G= (p.Cys1365=)
c.3914G= (p.Cys1305=)
c.3851G= (p.Cys1284=)
c.3695G= (p.Cys1232=)
c.3626G= (p.Cys1209=)
6g.33164907C>GCA363617598COL11A2n.614G>C
c.4808G>C (p.Cys1603Ser)
c.4487G>C (p.Cys1496Ser)
c.4550G>C (p.Cys1517Ser)
n.598G>C
c.3962G>C (p.Cys1321Ser)
c.4094G>C (p.Cys1365Ser)
c.3914G>C (p.Cys1305Ser)
c.3851G>C (p.Cys1284Ser)
c.3695G>C (p.Cys1232Ser)
c.3626G>C (p.Cys1209Ser)
6g.33164907C>TCA363617599COL11A2n.614G>A
c.4808G>A (p.Cys1603Tyr)
c.4487G>A (p.Cys1496Tyr)
c.4550G>A (p.Cys1517Tyr)
n.598G>A
c.3962G>A (p.Cys1321Tyr)
c.4094G>A (p.Cys1365Tyr)
c.3914G>A (p.Cys1305Tyr)
c.3851G>A (p.Cys1284Tyr)
c.3695G>A (p.Cys1232Tyr)
c.3626G>A (p.Cys1209Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164908A>CCA363617601COL11A2n.613T>G
c.4807T>G (p.Cys1603Gly)
c.4486T>G (p.Cys1496Gly)
c.4549T>G (p.Cys1517Gly)
n.597T>G
c.3961T>G (p.Cys1321Gly)
c.4093T>G (p.Cys1365Gly)
c.3913T>G (p.Cys1305Gly)
c.3850T>G (p.Cys1284Gly)
c.3694T>G (p.Cys1232Gly)
c.3625T>G (p.Cys1209Gly)
6g.33164908A>GCA363617603COL11A2n.613T>C
c.4807T>C (p.Cys1603Arg)
c.4486T>C (p.Cys1496Arg)
c.4549T>C (p.Cys1517Arg)
n.597T>C
c.3961T>C (p.Cys1321Arg)
c.4093T>C (p.Cys1365Arg)
c.3913T>C (p.Cys1305Arg)
c.3850T>C (p.Cys1284Arg)
c.3694T>C (p.Cys1232Arg)
c.3625T>C (p.Cys1209Arg)
 gnomAD v4
6g.33164908A>TCA363617604COL11A2n.613T>A
c.4807T>A (p.Cys1603Ser)
c.4486T>A (p.Cys1496Ser)
c.4549T>A (p.Cys1517Ser)
n.597T>A
c.3961T>A (p.Cys1321Ser)
c.4093T>A (p.Cys1365Ser)
c.3913T>A (p.Cys1305Ser)
c.3850T>A (p.Cys1284Ser)
c.3694T>A (p.Cys1232Ser)
c.3625T>A (p.Cys1209Ser)
 gnomAD v4
6g.33164909G>ACA449867298COL11A2n.612C>T
c.4806C>T (p.Phe1602=)
c.4485C>T (p.Phe1495=)
c.4548C>T (p.Phe1516=)
n.596C>T
c.3960C>T (p.Phe1320=)
c.4092C>T (p.Phe1364=)
c.3912C>T (p.Phe1304=)
c.3849C>T (p.Phe1283=)
c.3693C>T (p.Phe1231=)
c.3624C>T (p.Phe1208=)
 gnomAD v4
6g.33164909G>CCA363617607COL11A2n.612C>G
c.4806C>G (p.Phe1602Leu)
c.4485C>G (p.Phe1495Leu)
c.4548C>G (p.Phe1516Leu)
n.596C>G
c.3960C>G (p.Phe1320Leu)
c.4092C>G (p.Phe1364Leu)
c.3912C>G (p.Phe1304Leu)
c.3849C>G (p.Phe1283Leu)
c.3693C>G (p.Phe1231Leu)
c.3624C>G (p.Phe1208Leu)
6g.33164909G>TCA363617608COL11A2n.612C>A
c.4806C>A (p.Phe1602Leu)
c.4485C>A (p.Phe1495Leu)
c.4548C>A (p.Phe1516Leu)
n.596C>A
c.3960C>A (p.Phe1320Leu)
c.4092C>A (p.Phe1364Leu)
c.3912C>A (p.Phe1304Leu)
c.3849C>A (p.Phe1283Leu)
c.3693C>A (p.Phe1231Leu)
c.3624C>A (p.Phe1208Leu)
 gnomAD v4
6g.33164910A>CCA363617610COL11A2n.611T>G
c.4805T>G (p.Phe1602Cys)
c.4484T>G (p.Phe1495Cys)
c.4547T>G (p.Phe1516Cys)
n.595T>G
c.3959T>G (p.Phe1320Cys)
c.4091T>G (p.Phe1364Cys)
c.3911T>G (p.Phe1304Cys)
c.3848T>G (p.Phe1283Cys)
c.3692T>G (p.Phe1231Cys)
c.3623T>G (p.Phe1208Cys)
6g.33164910A>GCA363617612COL11A2n.611T>C
c.4805T>C (p.Phe1602Ser)
c.4484T>C (p.Phe1495Ser)
c.4547T>C (p.Phe1516Ser)
n.595T>C
c.3959T>C (p.Phe1320Ser)
c.4091T>C (p.Phe1364Ser)
c.3911T>C (p.Phe1304Ser)
c.3848T>C (p.Phe1283Ser)
c.3692T>C (p.Phe1231Ser)
c.3623T>C (p.Phe1208Ser)
6g.33164910A>TCA363617614COL11A2n.611T>A
c.4805T>A (p.Phe1602Tyr)
c.4484T>A (p.Phe1495Tyr)
c.4547T>A (p.Phe1516Tyr)
n.595T>A
c.3959T>A (p.Phe1320Tyr)
c.4091T>A (p.Phe1364Tyr)
c.3911T>A (p.Phe1304Tyr)
c.3848T>A (p.Phe1283Tyr)
c.3692T>A (p.Phe1231Tyr)
c.3623T>A (p.Phe1208Tyr)
6g.33164911A>CCA363617615COL11A2n.610T>G
c.4804T>G (p.Phe1602Val)
c.4483T>G (p.Phe1495Val)
c.4546T>G (p.Phe1516Val)
n.594T>G
c.3958T>G (p.Phe1320Val)
c.4090T>G (p.Phe1364Val)
c.3910T>G (p.Phe1304Val)
c.3847T>G (p.Phe1283Val)
c.3691T>G (p.Phe1231Val)
c.3622T>G (p.Phe1208Val)
 gnomAD v4
6g.33164911A>GCA363617617COL11A2n.610T>C
c.4804T>C (p.Phe1602Leu)
c.4483T>C (p.Phe1495Leu)
c.4546T>C (p.Phe1516Leu)
n.594T>C
c.3958T>C (p.Phe1320Leu)
c.4090T>C (p.Phe1364Leu)
c.3910T>C (p.Phe1304Leu)
c.3847T>C (p.Phe1283Leu)
c.3691T>C (p.Phe1231Leu)
c.3622T>C (p.Phe1208Leu)
 gnomAD v4
6g.33164911A>TCA363617618COL11A2n.610T>A
c.4804T>A (p.Phe1602Ile)
c.4483T>A (p.Phe1495Ile)
c.4546T>A (p.Phe1516Ile)
n.594T>A
c.3958T>A (p.Phe1320Ile)
c.4090T>A (p.Phe1364Ile)
c.3910T>A (p.Phe1304Ile)
c.3847T>A (p.Phe1283Ile)
c.3691T>A (p.Phe1231Ile)
c.3622T>A (p.Phe1208Ile)
6g.33164912A>CCA449867301COL11A2n.609T>G
c.4803T>G (p.Val1601=)
c.4482T>G (p.Val1494=)
c.4545T>G (p.Val1515=)
n.593T>G
c.3957T>G (p.Val1319=)
c.4089T>G (p.Val1363=)
c.3909T>G (p.Val1303=)
c.3846T>G (p.Val1282=)
c.3690T>G (p.Val1230=)
c.3621T>G (p.Val1207=)
6g.33164912A>GCA449867299COL11A2n.609T>C
c.4803T>C (p.Val1601=)
c.4482T>C (p.Val1494=)
c.4545T>C (p.Val1515=)
n.593T>C
c.3957T>C (p.Val1319=)
c.4089T>C (p.Val1363=)
c.3909T>C (p.Val1303=)
c.3846T>C (p.Val1282=)
c.3690T>C (p.Val1230=)
c.3621T>C (p.Val1207=)
6g.33164912A>TCA449867300COL11A2n.609T>A
c.4803T>A (p.Val1601=)
c.4482T>A (p.Val1494=)
c.4545T>A (p.Val1515=)
n.593T>A
c.3957T>A (p.Val1319=)
c.4089T>A (p.Val1363=)
c.3909T>A (p.Val1303=)
c.3846T>A (p.Val1282=)
c.3690T>A (p.Val1230=)
c.3621T>A (p.Val1207=)
6g.33164913A>CCA363617620COL11A2n.608T>G
c.4802T>G (p.Val1601Gly)
c.4481T>G (p.Val1494Gly)
c.4544T>G (p.Val1515Gly)
n.592T>G
c.3956T>G (p.Val1319Gly)
c.4088T>G (p.Val1363Gly)
c.3908T>G (p.Val1303Gly)
c.3845T>G (p.Val1282Gly)
c.3689T>G (p.Val1230Gly)
c.3620T>G (p.Val1207Gly)
6g.33164913A>GCA363617621COL11A2n.608T>C
c.4802T>C (p.Val1601Ala)
c.4481T>C (p.Val1494Ala)
c.4544T>C (p.Val1515Ala)
n.592T>C
c.3956T>C (p.Val1319Ala)
c.4088T>C (p.Val1363Ala)
c.3908T>C (p.Val1303Ala)
c.3845T>C (p.Val1282Ala)
c.3689T>C (p.Val1230Ala)
c.3620T>C (p.Val1207Ala)
 gnomAD v4
6g.33164913A>TCA363617623COL11A2n.608T>A
c.4802T>A (p.Val1601Asp)
c.4481T>A (p.Val1494Asp)
c.4544T>A (p.Val1515Asp)
n.592T>A
c.3956T>A (p.Val1319Asp)
c.4088T>A (p.Val1363Asp)
c.3908T>A (p.Val1303Asp)
c.3845T>A (p.Val1282Asp)
c.3689T>A (p.Val1230Asp)
c.3620T>A (p.Val1207Asp)
6g.33164914C>ACA363617625COL11A2n.607G>T
c.4801G>T (p.Val1601Phe)
c.4480G>T (p.Val1494Phe)
c.4543G>T (p.Val1515Phe)
n.591G>T
c.3955G>T (p.Val1319Phe)
c.4087G>T (p.Val1363Phe)
c.3907G>T (p.Val1303Phe)
c.3844G>T (p.Val1282Phe)
c.3688G>T (p.Val1230Phe)
c.3619G>T (p.Val1207Phe)
 gnomAD v4
6g.33164914C>GCA363617627COL11A2n.607G>C
c.4801G>C (p.Val1601Leu)
c.4480G>C (p.Val1494Leu)
c.4543G>C (p.Val1515Leu)
n.591G>C
c.3955G>C (p.Val1319Leu)
c.4087G>C (p.Val1363Leu)
c.3907G>C (p.Val1303Leu)
c.3844G>C (p.Val1282Leu)
c.3688G>C (p.Val1230Leu)
c.3619G>C (p.Val1207Leu)
6g.33164914C>TCA363617629COL11A2n.607G>A
c.4801G>A (p.Val1601Ile)
c.4480G>A (p.Val1494Ile)
c.4543G>A (p.Val1515Ile)
n.591G>A
c.3955G>A (p.Val1319Ile)
c.4087G>A (p.Val1363Ile)
c.3907G>A (p.Val1303Ile)
c.3844G>A (p.Val1282Ile)
c.3688G>A (p.Val1230Ile)
c.3619G>A (p.Val1207Ile)
 gnomAD v4
6g.33164915T>ACA449867302COL11A2n.606A>T
c.4800A>T (p.Arg1600=)
c.4479A>T (p.Arg1493=)
c.4542A>T (p.Arg1514=)
n.590A>T
c.3954A>T (p.Arg1318=)
c.4086A>T (p.Arg1362=)
c.3906A>T (p.Arg1302=)
c.3843A>T (p.Arg1281=)
c.3687A>T (p.Arg1229=)
c.3618A>T (p.Arg1206=)
 gnomAD v4
6g.33164915T>CCA449867303COL11A2n.606A>G
c.4800A>G (p.Arg1600=)
c.4479A>G (p.Arg1493=)
c.4542A>G (p.Arg1514=)
n.590A>G
c.3954A>G (p.Arg1318=)
c.4086A>G (p.Arg1362=)
c.3906A>G (p.Arg1302=)
c.3843A>G (p.Arg1281=)
c.3687A>G (p.Arg1229=)
c.3618A>G (p.Arg1206=)
6g.33164915T>GCA449867304COL11A2n.606A>C
c.4800A>C (p.Arg1600=)
c.4479A>C (p.Arg1493=)
c.4542A>C (p.Arg1514=)
n.590A>C
c.3954A>C (p.Arg1318=)
c.4086A>C (p.Arg1362=)
c.3906A>C (p.Arg1302=)
c.3843A>C (p.Arg1281=)
c.3687A>C (p.Arg1229=)
c.3618A>C (p.Arg1206=)
6g.33164916C>ACA363617632COL11A2n.605G>T
c.4799G>T (p.Arg1600Leu)
c.4478G>T (p.Arg1493Leu)
c.4541G>T (p.Arg1514Leu)
n.589G>T
c.3953G>T (p.Arg1318Leu)
c.4085G>T (p.Arg1362Leu)
c.3905G>T (p.Arg1302Leu)
c.3842G>T (p.Arg1281Leu)
c.3686G>T (p.Arg1229Leu)
c.3617G>T (p.Arg1206Leu)
 gnomAD v4
6g.33164916C=CA1619890522COL11A2n.605G=
c.4799G= (p.Arg1600=)
c.4478G= (p.Arg1493=)
c.4541G= (p.Arg1514=)
n.589G=
c.3953G= (p.Arg1318=)
c.4085G= (p.Arg1362=)
c.3905G= (p.Arg1302=)
c.3842G= (p.Arg1281=)
c.3686G= (p.Arg1229=)
c.3617G= (p.Arg1206=)
6g.33164916C>GCA363617634COL11A2n.605G>C
c.4799G>C (p.Arg1600Pro)
c.4478G>C (p.Arg1493Pro)
c.4541G>C (p.Arg1514Pro)
n.589G>C
c.3953G>C (p.Arg1318Pro)
c.4085G>C (p.Arg1362Pro)
c.3905G>C (p.Arg1302Pro)
c.3842G>C (p.Arg1281Pro)
c.3686G>C (p.Arg1229Pro)
c.3617G>C (p.Arg1206Pro)
 gnomAD v4
6g.33164916C>TCA182640COL11A2n.605G>A
c.4799G>A (p.Arg1600Gln)
c.4478G>A (p.Arg1493Gln)
c.4541G>A (p.Arg1514Gln)
n.589G>A
c.3953G>A (p.Arg1318Gln)
c.4085G>A (p.Arg1362Gln)
c.3905G>A (p.Arg1302Gln)
c.3842G>A (p.Arg1281Gln)
c.3686G>A (p.Arg1229Gln)
c.3617G>A (p.Arg1206Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164917G>ACA363617637COL11A2n.604C>T
c.4798C>T (p.Arg1600Ter)
c.4477C>T (p.Arg1493Ter)
c.4540C>T (p.Arg1514Ter)
n.588C>T
c.3952C>T (p.Arg1318Ter)
c.4084C>T (p.Arg1362Ter)
c.3904C>T (p.Arg1302Ter)
c.3841C>T (p.Arg1281Ter)
c.3685C>T (p.Arg1229Ter)
c.3616C>T (p.Arg1206Ter)
 ClinVar gnomAD v4
6g.33164917G>CCA363617639COL11A2n.604C>G
c.4798C>G (p.Arg1600Gly)
c.4477C>G (p.Arg1493Gly)
c.4540C>G (p.Arg1514Gly)
n.588C>G
c.3952C>G (p.Arg1318Gly)
c.4084C>G (p.Arg1362Gly)
c.3904C>G (p.Arg1302Gly)
c.3841C>G (p.Arg1281Gly)
c.3685C>G (p.Arg1229Gly)
c.3616C>G (p.Arg1206Gly)
6g.33164917G>TCA449867305COL11A2n.604C>A
c.4798C>A (p.Arg1600=)
c.4477C>A (p.Arg1493=)
c.4540C>A (p.Arg1514=)
n.588C>A
c.3952C>A (p.Arg1318=)
c.4084C>A (p.Arg1362=)
c.3904C>A (p.Arg1302=)
c.3841C>A (p.Arg1281=)
c.3685C>A (p.Arg1229=)
c.3616C>A (p.Arg1206=)
 gnomAD v4
6g.33164918G>ACA449867306COL11A2n.603C>T
c.4797C>T (p.Phe1599=)
c.4476C>T (p.Phe1492=)
c.4539C>T (p.Phe1513=)
n.587C>T
c.3951C>T (p.Phe1317=)
c.4083C>T (p.Phe1361=)
c.3903C>T (p.Phe1301=)
c.3840C>T (p.Phe1280=)
c.3684C>T (p.Phe1228=)
c.3615C>T (p.Phe1205=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164918G>CCA363617641COL11A2n.603C>G
c.4797C>G (p.Phe1599Leu)
c.4476C>G (p.Phe1492Leu)
c.4539C>G (p.Phe1513Leu)
n.587C>G
c.3951C>G (p.Phe1317Leu)
c.4083C>G (p.Phe1361Leu)
c.3903C>G (p.Phe1301Leu)
c.3840C>G (p.Phe1280Leu)
c.3684C>G (p.Phe1228Leu)
c.3615C>G (p.Phe1205Leu)
6g.33164918G=CA1619890530COL11A2n.603C=
c.4797C= (p.Phe1599=)
c.4476C= (p.Phe1492=)
c.4539C= (p.Phe1513=)
n.587C=
c.3951C= (p.Phe1317=)
c.4083C= (p.Phe1361=)
c.3903C= (p.Phe1301=)
c.3840C= (p.Phe1280=)
c.3684C= (p.Phe1228=)
c.3615C= (p.Phe1205=)
6g.33164918G>TCA363617642COL11A2n.603C>A
c.4797C>A (p.Phe1599Leu)
c.4476C>A (p.Phe1492Leu)
c.4539C>A (p.Phe1513Leu)
n.587C>A
c.3951C>A (p.Phe1317Leu)
c.4083C>A (p.Phe1361Leu)
c.3903C>A (p.Phe1301Leu)
c.3840C>A (p.Phe1280Leu)
c.3684C>A (p.Phe1228Leu)
c.3615C>A (p.Phe1205Leu)
 gnomAD v4
6g.33164919A>CCA363617648COL11A2n.602T>G
c.4796T>G (p.Phe1599Cys)
c.4475T>G (p.Phe1492Cys)
c.4538T>G (p.Phe1513Cys)
n.586T>G
c.3950T>G (p.Phe1317Cys)
c.4082T>G (p.Phe1361Cys)
c.3902T>G (p.Phe1301Cys)
c.3839T>G (p.Phe1280Cys)
c.3683T>G (p.Phe1228Cys)
c.3614T>G (p.Phe1205Cys)
6g.33164919A>GCA363617647COL11A2n.602T>C
c.4796T>C (p.Phe1599Ser)
c.4475T>C (p.Phe1492Ser)
c.4538T>C (p.Phe1513Ser)
n.586T>C
c.3950T>C (p.Phe1317Ser)
c.4082T>C (p.Phe1361Ser)
c.3902T>C (p.Phe1301Ser)
c.3839T>C (p.Phe1280Ser)
c.3683T>C (p.Phe1228Ser)
c.3614T>C (p.Phe1205Ser)
6g.33164919A>TCA363617645COL11A2n.602T>A
c.4796T>A (p.Phe1599Tyr)
c.4475T>A (p.Phe1492Tyr)
c.4538T>A (p.Phe1513Tyr)
n.586T>A
c.3950T>A (p.Phe1317Tyr)
c.4082T>A (p.Phe1361Tyr)
c.3902T>A (p.Phe1301Tyr)
c.3839T>A (p.Phe1280Tyr)
c.3683T>A (p.Phe1228Tyr)
c.3614T>A (p.Phe1205Tyr)
6g.33164920A>CCA363617650COL11A2n.601T>G
c.4795T>G (p.Phe1599Val)
c.4474T>G (p.Phe1492Val)
c.4537T>G (p.Phe1513Val)
n.585T>G
c.3949T>G (p.Phe1317Val)
c.4081T>G (p.Phe1361Val)
c.3901T>G (p.Phe1301Val)
c.3838T>G (p.Phe1280Val)
c.3682T>G (p.Phe1228Val)
c.3613T>G (p.Phe1205Val)
6g.33164920A>GCA363617652COL11A2n.601T>C
c.4795T>C (p.Phe1599Leu)
c.4474T>C (p.Phe1492Leu)
c.4537T>C (p.Phe1513Leu)
n.585T>C
c.3949T>C (p.Phe1317Leu)
c.4081T>C (p.Phe1361Leu)
c.3901T>C (p.Phe1301Leu)
c.3838T>C (p.Phe1280Leu)
c.3682T>C (p.Phe1228Leu)
c.3613T>C (p.Phe1205Leu)
 gnomAD v4
6g.33164920A>TCA363617654COL11A2n.601T>A
c.4795T>A (p.Phe1599Ile)
c.4474T>A (p.Phe1492Ile)
c.4537T>A (p.Phe1513Ile)
n.585T>A
c.3949T>A (p.Phe1317Ile)
c.4081T>A (p.Phe1361Ile)
c.3901T>A (p.Phe1301Ile)
c.3838T>A (p.Phe1280Ile)
c.3682T>A (p.Phe1228Ile)
c.3613T>A (p.Phe1205Ile)
 gnomAD v4
6g.33164921G>ACA449867307COL11A2n.600C>T
c.4794C>T (p.Ala1598=)
c.4473C>T (p.Ala1491=)
c.4536C>T (p.Ala1512=)
n.584C>T
c.3948C>T (p.Ala1316=)
c.4080C>T (p.Ala1360=)
c.3900C>T (p.Ala1300=)
c.3837C>T (p.Ala1279=)
c.3681C>T (p.Ala1227=)
c.3612C>T (p.Ala1204=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164921G>CCA449867308COL11A2n.600C>G
c.4794C>G (p.Ala1598=)
c.4473C>G (p.Ala1491=)
c.4536C>G (p.Ala1512=)
n.584C>G
c.3948C>G (p.Ala1316=)
c.4080C>G (p.Ala1360=)
c.3900C>G (p.Ala1300=)
c.3837C>G (p.Ala1279=)
c.3681C>G (p.Ala1227=)
c.3612C>G (p.Ala1204=)
6g.33164921G=CA1619890536COL11A2n.600C=
c.4794C= (p.Ala1598=)
c.4473C= (p.Ala1491=)
c.4536C= (p.Ala1512=)
n.584C=
c.3948C= (p.Ala1316=)
c.4080C= (p.Ala1360=)
c.3900C= (p.Ala1300=)
c.3837C= (p.Ala1279=)
c.3681C= (p.Ala1227=)
c.3612C= (p.Ala1204=)
6g.33164921G>TCA449867309COL11A2n.600C>A
c.4794C>A (p.Ala1598=)
c.4473C>A (p.Ala1491=)
c.4536C>A (p.Ala1512=)
n.584C>A
c.3948C>A (p.Ala1316=)
c.4080C>A (p.Ala1360=)
c.3900C>A (p.Ala1300=)
c.3837C>A (p.Ala1279=)
c.3681C>A (p.Ala1227=)
c.3612C>A (p.Ala1204=)
 gnomAD v4
6g.33164922G>ACA363617656COL11A2n.599C>T
c.4793C>T (p.Ala1598Val)
c.4472C>T (p.Ala1491Val)
c.4535C>T (p.Ala1512Val)
n.583C>T
c.3947C>T (p.Ala1316Val)
c.4079C>T (p.Ala1360Val)
c.3899C>T (p.Ala1300Val)
c.3836C>T (p.Ala1279Val)
c.3680C>T (p.Ala1227Val)
c.3611C>T (p.Ala1204Val)
 gnomAD v4
6g.33164922G>CCA363617659COL11A2n.599C>G
c.4793C>G (p.Ala1598Gly)
c.4472C>G (p.Ala1491Gly)
c.4535C>G (p.Ala1512Gly)
n.583C>G
c.3947C>G (p.Ala1316Gly)
c.4079C>G (p.Ala1360Gly)
c.3899C>G (p.Ala1300Gly)
c.3836C>G (p.Ala1279Gly)
c.3680C>G (p.Ala1227Gly)
c.3611C>G (p.Ala1204Gly)
6g.33164922G>TCA363617661COL11A2n.599C>A
c.4793C>A (p.Ala1598Asp)
c.4472C>A (p.Ala1491Asp)
c.4535C>A (p.Ala1512Asp)
n.583C>A
c.3947C>A (p.Ala1316Asp)
c.4079C>A (p.Ala1360Asp)
c.3899C>A (p.Ala1300Asp)
c.3836C>A (p.Ala1279Asp)
c.3680C>A (p.Ala1227Asp)
c.3611C>A (p.Ala1204Asp)
6g.33164923C>ACA363617667COL11A2n.598G>T
c.4792G>T (p.Ala1598Ser)
c.4471G>T (p.Ala1491Ser)
c.4534G>T (p.Ala1512Ser)
n.582G>T
c.3946G>T (p.Ala1316Ser)
c.4078G>T (p.Ala1360Ser)
c.3898G>T (p.Ala1300Ser)
c.3835G>T (p.Ala1279Ser)
c.3679G>T (p.Ala1227Ser)
c.3610G>T (p.Ala1204Ser)
 gnomAD v4
6g.33164923C>GCA363617665COL11A2n.598G>C
c.4792G>C (p.Ala1598Pro)
c.4471G>C (p.Ala1491Pro)
c.4534G>C (p.Ala1512Pro)
n.582G>C
c.3946G>C (p.Ala1316Pro)
c.4078G>C (p.Ala1360Pro)
c.3898G>C (p.Ala1300Pro)
c.3835G>C (p.Ala1279Pro)
c.3679G>C (p.Ala1227Pro)
c.3610G>C (p.Ala1204Pro)
6g.33164923C>TCA363617664COL11A2n.598G>A
c.4792G>A (p.Ala1598Thr)
c.4471G>A (p.Ala1491Thr)
c.4534G>A (p.Ala1512Thr)
n.582G>A
c.3946G>A (p.Ala1316Thr)
c.4078G>A (p.Ala1360Thr)
c.3898G>A (p.Ala1300Thr)
c.3835G>A (p.Ala1279Thr)
c.3679G>A (p.Ala1227Thr)
c.3610G>A (p.Ala1204Thr)
 gnomAD v4
6g.33164924A>CCA363617669COL11A2n.597T>G
c.4791T>G (p.Asp1597Glu)
c.4470T>G (p.Asp1490Glu)
c.4533T>G (p.Asp1511Glu)
n.581T>G
c.3945T>G (p.Asp1315Glu)
c.4077T>G (p.Asp1359Glu)
c.3897T>G (p.Asp1299Glu)
c.3834T>G (p.Asp1278Glu)
c.3678T>G (p.Asp1226Glu)
c.3609T>G (p.Asp1203Glu)
6g.33164924A>GCA449867310COL11A2n.597T>C
c.4791T>C (p.Asp1597=)
c.4470T>C (p.Asp1490=)
c.4533T>C (p.Asp1511=)
n.581T>C
c.3945T>C (p.Asp1315=)
c.4077T>C (p.Asp1359=)
c.3897T>C (p.Asp1299=)
c.3834T>C (p.Asp1278=)
c.3678T>C (p.Asp1226=)
c.3609T>C (p.Asp1203=)
6g.33164924A>TCA363617671COL11A2n.597T>A
c.4791T>A (p.Asp1597Glu)
c.4470T>A (p.Asp1490Glu)
c.4533T>A (p.Asp1511Glu)
n.581T>A
c.3945T>A (p.Asp1315Glu)
c.4077T>A (p.Asp1359Glu)
c.3897T>A (p.Asp1299Glu)
c.3834T>A (p.Asp1278Glu)
c.3678T>A (p.Asp1226Glu)
c.3609T>A (p.Asp1203Glu)
6g.33164925T>ACA363617672COL11A2n.596A>T
c.4790A>T (p.Asp1597Val)
c.4469A>T (p.Asp1490Val)
c.4532A>T (p.Asp1511Val)
n.580A>T
c.3944A>T (p.Asp1315Val)
c.4076A>T (p.Asp1359Val)
c.3896A>T (p.Asp1299Val)
c.3833A>T (p.Asp1278Val)
c.3677A>T (p.Asp1226Val)
c.3608A>T (p.Asp1203Val)
 gnomAD v4
6g.33164925T>CCA363617674COL11A2n.596A>G
c.4790A>G (p.Asp1597Gly)
c.4469A>G (p.Asp1490Gly)
c.4532A>G (p.Asp1511Gly)
n.580A>G
c.3944A>G (p.Asp1315Gly)
c.4076A>G (p.Asp1359Gly)
c.3896A>G (p.Asp1299Gly)
c.3833A>G (p.Asp1278Gly)
c.3677A>G (p.Asp1226Gly)
c.3608A>G (p.Asp1203Gly)
6g.33164925T>GCA363617675COL11A2n.596A>C
c.4790A>C (p.Asp1597Ala)
c.4469A>C (p.Asp1490Ala)
c.4532A>C (p.Asp1511Ala)
n.580A>C
c.3944A>C (p.Asp1315Ala)
c.4076A>C (p.Asp1359Ala)
c.3896A>C (p.Asp1299Ala)
c.3833A>C (p.Asp1278Ala)
c.3677A>C (p.Asp1226Ala)
c.3608A>C (p.Asp1203Ala)
6g.33164926C>ACA363617677COL11A2n.595G>T
c.4789G>T (p.Asp1597Tyr)
c.4468G>T (p.Asp1490Tyr)
c.4531G>T (p.Asp1511Tyr)
n.579G>T
c.3943G>T (p.Asp1315Tyr)
c.4075G>T (p.Asp1359Tyr)
c.3895G>T (p.Asp1299Tyr)
c.3832G>T (p.Asp1278Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3607G>T (p.Asp1203Tyr)
 gnomAD v4
6g.33164926C=CA1619890538COL11A2n.595G=
c.4789G= (p.Asp1597=)
c.4468G= (p.Asp1490=)
c.4531G= (p.Asp1511=)
n.579G=
c.3943G= (p.Asp1315=)
c.4075G= (p.Asp1359=)
c.3895G= (p.Asp1299=)
c.3832G= (p.Asp1278=)
c.3676G= (p.Asp1226=)
c.3607G= (p.Asp1203=)
6g.33164926C>GCA363617679COL11A2n.595G>C
c.4789G>C (p.Asp1597His)
c.4468G>C (p.Asp1490His)
c.4531G>C (p.Asp1511His)
n.579G>C
c.3943G>C (p.Asp1315His)
c.4075G>C (p.Asp1359His)
c.3895G>C (p.Asp1299His)
c.3832G>C (p.Asp1278His)
c.3676G>C (p.Asp1226His)
c.3607G>C (p.Asp1203His)
6g.33164926C>TCA363617681COL11A2n.595G>A
c.4789G>A (p.Asp1597Asn)
c.4468G>A (p.Asp1490Asn)
c.4531G>A (p.Asp1511Asn)
n.579G>A
c.3943G>A (p.Asp1315Asn)
c.4075G>A (p.Asp1359Asn)
c.3895G>A (p.Asp1299Asn)
c.3832G>A (p.Asp1278Asn)
c.3676G>A (p.Asp1226Asn)
c.3607G>A (p.Asp1203Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.33164928delCA2739273023COL11A2n.595del
c.4789del (p.Asp1597MetfsTer17)
c.4468del (p.Asp1490MetfsTer17)
c.4531del (p.Asp1511MetfsTer17)
n.579del
c.3943del (p.Asp1315MetfsTer17)
c.4075del (p.Asp1359MetfsTer17)
c.3895del (p.Asp1299MetfsTer17)
c.3832del (p.Asp1278MetfsTer17)
c.3676del (p.Asp1226MetfsTer17)
c.3607del (p.Asp1203MetfsTer17)
 ClinVar
6g.33164927C>ACA449867311COL11A2n.594G>T
c.4788G>T (p.Arg1596=)
c.4467G>T (p.Arg1489=)
c.4530G>T (p.Arg1510=)
n.578G>T
c.3942G>T (p.Arg1314=)
c.4074G>T (p.Arg1358=)
c.3894G>T (p.Arg1298=)
c.3831G>T (p.Arg1277=)
c.3675G>T (p.Arg1225=)
c.3606G>T (p.Arg1202=)
 gnomAD v4
6g.33164927C>GCA449867312COL11A2n.594G>C
c.4788G>C (p.Arg1596=)
c.4467G>C (p.Arg1489=)
c.4530G>C (p.Arg1510=)
n.578G>C
c.3942G>C (p.Arg1314=)
c.4074G>C (p.Arg1358=)
c.3894G>C (p.Arg1298=)
c.3831G>C (p.Arg1277=)
c.3675G>C (p.Arg1225=)
c.3606G>C (p.Arg1202=)
 gnomAD v4
6g.33164927C>TCA449867313COL11A2n.594G>A
c.4788G>A (p.Arg1596=)
c.4467G>A (p.Arg1489=)
c.4530G>A (p.Arg1510=)
n.578G>A
c.3942G>A (p.Arg1314=)
c.4074G>A (p.Arg1358=)
c.3894G>A (p.Arg1298=)
c.3831G>A (p.Arg1277=)
c.3675G>A (p.Arg1225=)
c.3606G>A (p.Arg1202=)
 gnomAD v4
6g.33164927_33164933delinsCCGAGCACA1619890540COL11A2n.588_594delinsTGCTCGG
c.4782_4788delinsTGCTCGG (p.Cys1594=)
c.4461_4467delinsTGCTCGG (p.Cys1487=)
c.4524_4530delinsTGCTCGG (p.Cys1508=)
n.572_578delinsTGCTCGG
c.3936_3942delinsTGCTCGG (p.Cys1312=)
c.4068_4074delinsTGCTCGG (p.Cys1356=)
c.3888_3894delinsTGCTCGG (p.Cys1296=)
c.3825_3831delinsTGCTCGG (p.Cys1275=)
c.3669_3675delinsTGCTCGG (p.Cys1223=)
c.3600_3606delinsTGCTCGG (p.Cys1200=)
6g.33164928C>ACA363617686COL11A2n.593G>T
c.4787G>T (p.Arg1596Leu)
c.4466G>T (p.Arg1489Leu)
c.4529G>T (p.Arg1510Leu)
n.577G>T
c.3941G>T (p.Arg1314Leu)
c.4073G>T (p.Arg1358Leu)
c.3893G>T (p.Arg1298Leu)
c.3830G>T (p.Arg1277Leu)
c.3674G>T (p.Arg1225Leu)
c.3605G>T (p.Arg1202Leu)
 gnomAD v4
6g.33164928C=CA1619890544COL11A2n.593G=
c.4787G= (p.Arg1596=)
c.4466G= (p.Arg1489=)
c.4529G= (p.Arg1510=)
n.577G=
c.3941G= (p.Arg1314=)
c.4073G= (p.Arg1358=)
c.3893G= (p.Arg1298=)
c.3830G= (p.Arg1277=)
c.3674G= (p.Arg1225=)
c.3605G= (p.Arg1202=)
6g.33164928C>GCA363617685COL11A2n.593G>C
c.4787G>C (p.Arg1596Pro)
c.4466G>C (p.Arg1489Pro)
c.4529G>C (p.Arg1510Pro)
n.577G>C
c.3941G>C (p.Arg1314Pro)
c.4073G>C (p.Arg1358Pro)
c.3893G>C (p.Arg1298Pro)
c.3830G>C (p.Arg1277Pro)
c.3674G>C (p.Arg1225Pro)
c.3605G>C (p.Arg1202Pro)
6g.33164928C>TCA137061744COL11A2n.593G>A
c.4787G>A (p.Arg1596Gln)
c.4466G>A (p.Arg1489Gln)
c.4529G>A (p.Arg1510Gln)
n.577G>A
c.3941G>A (p.Arg1314Gln)
c.4073G>A (p.Arg1358Gln)
c.3893G>A (p.Arg1298Gln)
c.3830G>A (p.Arg1277Gln)
c.3674G>A (p.Arg1225Gln)
c.3605G>A (p.Arg1202Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164929_33164934delCA3749994COL11A2n.588_593del
c.4782_4787del (p.Cys1594_Arg1596delinsTrp)
c.4461_4466del (p.Cys1487_Arg1489delinsTrp)
c.4524_4529del (p.Cys1508_Arg1510delinsTrp)
n.572_577del
c.3936_3941del (p.Cys1312_Arg1314delinsTrp)
c.4068_4073del (p.Cys1356_Arg1358delinsTrp)
c.3888_3893del (p.Cys1296_Arg1298delinsTrp)
c.3825_3830del (p.Cys1275_Arg1277delinsTrp)
c.3669_3674del (p.Cys1223_Arg1225delinsTrp)
c.3600_3605del (p.Cys1200_Arg1202delinsTrp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164929G>ACA3749995COL11A2n.592C>T
c.4786C>T (p.Arg1596Trp)
c.4465C>T (p.Arg1489Trp)
c.4528C>T (p.Arg1510Trp)
n.576C>T
c.3940C>T (p.Arg1314Trp)
c.4072C>T (p.Arg1358Trp)
c.3892C>T (p.Arg1298Trp)
c.3829C>T (p.Arg1277Trp)
c.3673C>T (p.Arg1225Trp)
c.3604C>T (p.Arg1202Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164929G>CCA363617691COL11A2n.592C>G
c.4786C>G (p.Arg1596Gly)
c.4465C>G (p.Arg1489Gly)
c.4528C>G (p.Arg1510Gly)
n.576C>G
c.3940C>G (p.Arg1314Gly)
c.4072C>G (p.Arg1358Gly)
c.3892C>G (p.Arg1298Gly)
c.3829C>G (p.Arg1277Gly)
c.3673C>G (p.Arg1225Gly)
c.3604C>G (p.Arg1202Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.33164929G=CA1619890549COL11A2n.592C=
c.4786C= (p.Arg1596=)
c.4465C= (p.Arg1489=)
c.4528C= (p.Arg1510=)
n.576C=
c.3940C= (p.Arg1314=)
c.4072C= (p.Arg1358=)
c.3892C= (p.Arg1298=)
c.3829C= (p.Arg1277=)
c.3673C= (p.Arg1225=)
c.3604C= (p.Arg1202=)
6g.33164929G>TCA449867314COL11A2n.592C>A
c.4786C>A (p.Arg1596=)
c.4465C>A (p.Arg1489=)
c.4528C>A (p.Arg1510=)
n.576C>A
c.3940C>A (p.Arg1314=)
c.4072C>A (p.Arg1358=)
c.3892C>A (p.Arg1298=)
c.3829C>A (p.Arg1277=)
c.3673C>A (p.Arg1225=)
c.3604C>A (p.Arg1202=)
 gnomAD v4
6g.33164930A>CCA449867315COL11A2n.591T>G
c.4785T>G (p.Ala1595=)
c.4464T>G (p.Ala1488=)
c.4527T>G (p.Ala1509=)
n.575T>G
c.3939T>G (p.Ala1313=)
c.4071T>G (p.Ala1357=)
c.3891T>G (p.Ala1297=)
c.3828T>G (p.Ala1276=)
c.3672T>G (p.Ala1224=)
c.3603T>G (p.Ala1201=)
6g.33164930A>GCA449867316COL11A2n.591T>C
c.4785T>C (p.Ala1595=)
c.4464T>C (p.Ala1488=)
c.4527T>C (p.Ala1509=)
n.575T>C
c.3939T>C (p.Ala1313=)
c.4071T>C (p.Ala1357=)
c.3891T>C (p.Ala1297=)
c.3828T>C (p.Ala1276=)
c.3672T>C (p.Ala1224=)
c.3603T>C (p.Ala1201=)
6g.33164930A>TCA449867317COL11A2n.591T>A
c.4785T>A (p.Ala1595=)
c.4464T>A (p.Ala1488=)
c.4527T>A (p.Ala1509=)
n.575T>A
c.3939T>A (p.Ala1313=)
c.4071T>A (p.Ala1357=)
c.3891T>A (p.Ala1297=)
c.3828T>A (p.Ala1276=)
c.3672T>A (p.Ala1224=)
c.3603T>A (p.Ala1201=)
6g.33164931G>ACA363617694COL11A2n.590C>T
c.4784C>T (p.Ala1595Val)
c.4463C>T (p.Ala1488Val)
c.4526C>T (p.Ala1509Val)
n.574C>T
c.3938C>T (p.Ala1313Val)
c.4070C>T (p.Ala1357Val)
c.3890C>T (p.Ala1297Val)
c.3827C>T (p.Ala1276Val)
c.3671C>T (p.Ala1224Val)
c.3602C>T (p.Ala1201Val)
 gnomAD v4
6g.33164931G>CCA363617697COL11A2n.590C>G
c.4784C>G (p.Ala1595Gly)
c.4463C>G (p.Ala1488Gly)
c.4526C>G (p.Ala1509Gly)
n.574C>G
c.3938C>G (p.Ala1313Gly)
c.4070C>G (p.Ala1357Gly)
c.3890C>G (p.Ala1297Gly)
c.3827C>G (p.Ala1276Gly)
c.3671C>G (p.Ala1224Gly)
c.3602C>G (p.Ala1201Gly)
6g.33164931G>TCA363617698COL11A2n.590C>A
c.4784C>A (p.Ala1595Asp)
c.4463C>A (p.Ala1488Asp)
c.4526C>A (p.Ala1509Asp)
n.574C>A
c.3938C>A (p.Ala1313Asp)
c.4070C>A (p.Ala1357Asp)
c.3890C>A (p.Ala1297Asp)
c.3827C>A (p.Ala1276Asp)
c.3671C>A (p.Ala1224Asp)
c.3602C>A (p.Ala1201Asp)
 gnomAD v4
6g.33164932C>ACA363617701COL11A2n.589G>T
c.4783G>T (p.Ala1595Ser)
c.4462G>T (p.Ala1488Ser)
c.4525G>T (p.Ala1509Ser)
n.573G>T
c.3937G>T (p.Ala1313Ser)
c.4069G>T (p.Ala1357Ser)
c.3889G>T (p.Ala1297Ser)
c.3826G>T (p.Ala1276Ser)
c.3670G>T (p.Ala1224Ser)
c.3601G>T (p.Ala1201Ser)
 gnomAD v4
6g.33164932C>GCA363617703COL11A2n.589G>C
c.4783G>C (p.Ala1595Pro)
c.4462G>C (p.Ala1488Pro)
c.4525G>C (p.Ala1509Pro)
n.573G>C
c.3937G>C (p.Ala1313Pro)
c.4069G>C (p.Ala1357Pro)
c.3889G>C (p.Ala1297Pro)
c.3826G>C (p.Ala1276Pro)
c.3670G>C (p.Ala1224Pro)
c.3601G>C (p.Ala1201Pro)
6g.33164932C>TCA363617702COL11A2n.589G>A
c.4783G>A (p.Ala1595Thr)
c.4462G>A (p.Ala1488Thr)
c.4525G>A (p.Ala1509Thr)
n.573G>A
c.3937G>A (p.Ala1313Thr)
c.4069G>A (p.Ala1357Thr)
c.3889G>A (p.Ala1297Thr)
c.3826G>A (p.Ala1276Thr)
c.3670G>A (p.Ala1224Thr)
c.3601G>A (p.Ala1201Thr)
 gnomAD v4
6g.33164933A>CCA363617704COL11A2n.588T>G
c.4782T>G (p.Cys1594Trp)
c.4461T>G (p.Cys1487Trp)
c.4524T>G (p.Cys1508Trp)
n.572T>G
c.3936T>G (p.Cys1312Trp)
c.4068T>G (p.Cys1356Trp)
c.3888T>G (p.Cys1296Trp)
c.3825T>G (p.Cys1275Trp)
c.3669T>G (p.Cys1223Trp)
c.3600T>G (p.Cys1200Trp)
6g.33164933A>GCA449867318COL11A2n.588T>C
c.4782T>C (p.Cys1594=)
c.4461T>C (p.Cys1487=)
c.4524T>C (p.Cys1508=)
n.572T>C
c.3936T>C (p.Cys1312=)
c.4068T>C (p.Cys1356=)
c.3888T>C (p.Cys1296=)
c.3825T>C (p.Cys1275=)
c.3669T>C (p.Cys1223=)
c.3600T>C (p.Cys1200=)
 gnomAD v4
6g.33164933A>TCA363617705COL11A2n.588T>A
c.4782T>A (p.Cys1594Ter)
c.4461T>A (p.Cys1487Ter)
c.4524T>A (p.Cys1508Ter)
n.572T>A
c.3936T>A (p.Cys1312Ter)
c.4068T>A (p.Cys1356Ter)
c.3888T>A (p.Cys1296Ter)
c.3825T>A (p.Cys1275Ter)
c.3669T>A (p.Cys1223Ter)
c.3600T>A (p.Cys1200Ter)
 gnomAD v4
6g.33164934C>ACA363617708COL11A2n.587G>T
c.4781G>T (p.Cys1594Phe)
c.4460G>T (p.Cys1487Phe)
c.4523G>T (p.Cys1508Phe)
n.571G>T
c.3935G>T (p.Cys1312Phe)
c.4067G>T (p.Cys1356Phe)
c.3887G>T (p.Cys1296Phe)
c.3824G>T (p.Cys1275Phe)
c.3668G>T (p.Cys1223Phe)
c.3599G>T (p.Cys1200Phe)
 gnomAD v4
6g.33164934C=CA1619890555COL11A2n.587G=
c.4781G= (p.Cys1594=)
c.4460G= (p.Cys1487=)
c.4523G= (p.Cys1508=)
n.571G=
c.3935G= (p.Cys1312=)
c.4067G= (p.Cys1356=)
c.3887G= (p.Cys1296=)
c.3824G= (p.Cys1275=)
c.3668G= (p.Cys1223=)
c.3599G= (p.Cys1200=)
6g.33164934C>GCA363617709COL11A2n.587G>C
c.4781G>C (p.Cys1594Ser)
c.4460G>C (p.Cys1487Ser)
c.4523G>C (p.Cys1508Ser)
n.571G>C
c.3935G>C (p.Cys1312Ser)
c.4067G>C (p.Cys1356Ser)
c.3887G>C (p.Cys1296Ser)
c.3824G>C (p.Cys1275Ser)
c.3668G>C (p.Cys1223Ser)
c.3599G>C (p.Cys1200Ser)
6g.33164934C>TCA363617712COL11A2n.587G>A
c.4781G>A (p.Cys1594Tyr)
c.4460G>A (p.Cys1487Tyr)
c.4523G>A (p.Cys1508Tyr)
n.571G>A
c.3935G>A (p.Cys1312Tyr)
c.4067G>A (p.Cys1356Tyr)
c.3887G>A (p.Cys1296Tyr)
c.3824G>A (p.Cys1275Tyr)
c.3668G>A (p.Cys1223Tyr)
c.3599G>A (p.Cys1200Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164935A=CA1619890562COL11A2n.586T=
c.4780T= (p.Cys1594=)
c.4459T= (p.Cys1487=)
c.4522T= (p.Cys1508=)
n.570T=
c.3934T= (p.Cys1312=)
c.4066T= (p.Cys1356=)
c.3886T= (p.Cys1296=)
c.3823T= (p.Cys1275=)
c.3667T= (p.Cys1223=)
c.3598T= (p.Cys1200=)
6g.33164935A>CCA363617716COL11A2n.586T>G
c.4780T>G (p.Cys1594Gly)
c.4459T>G (p.Cys1487Gly)
c.4522T>G (p.Cys1508Gly)
n.570T>G
c.3934T>G (p.Cys1312Gly)
c.4066T>G (p.Cys1356Gly)
c.3886T>G (p.Cys1296Gly)
c.3823T>G (p.Cys1275Gly)
c.3667T>G (p.Cys1223Gly)
c.3598T>G (p.Cys1200Gly)
 gnomAD v4
6g.33164935A>GCA363617718COL11A2n.586T>C
c.4780T>C (p.Cys1594Arg)
c.4459T>C (p.Cys1487Arg)
c.4522T>C (p.Cys1508Arg)
n.570T>C
c.3934T>C (p.Cys1312Arg)
c.4066T>C (p.Cys1356Arg)
c.3886T>C (p.Cys1296Arg)
c.3823T>C (p.Cys1275Arg)
c.3667T>C (p.Cys1223Arg)
c.3598T>C (p.Cys1200Arg)
 gnomAD v4
6g.33164935A>TCA363617720COL11A2n.586T>A
c.4780T>A (p.Cys1594Ser)
c.4459T>A (p.Cys1487Ser)
c.4522T>A (p.Cys1508Ser)
n.570T>A
c.3934T>A (p.Cys1312Ser)
c.4066T>A (p.Cys1356Ser)
c.3886T>A (p.Cys1296Ser)
c.3823T>A (p.Cys1275Ser)
c.3667T>A (p.Cys1223Ser)
c.3598T>A (p.Cys1200Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.33164936G>ACA449867319COL11A2n.585C>T
c.4779C>T (p.Gly1593=)
c.4458C>T (p.Gly1486=)
c.4521C>T (p.Gly1507=)
n.569C>T
c.3933C>T (p.Gly1311=)
c.4065C>T (p.Gly1355=)
c.3885C>T (p.Gly1295=)
c.3822C>T (p.Gly1274=)
c.3666C>T (p.Gly1222=)
c.3597C>T (p.Gly1199=)
 gnomAD v4
6g.33164936G>CCA449867320COL11A2n.585C>G
c.4779C>G (p.Gly1593=)
c.4458C>G (p.Gly1486=)
c.4521C>G (p.Gly1507=)
n.569C>G
c.3933C>G (p.Gly1311=)
c.4065C>G (p.Gly1355=)
c.3885C>G (p.Gly1295=)
c.3822C>G (p.Gly1274=)
c.3666C>G (p.Gly1222=)
c.3597C>G (p.Gly1199=)
 gnomAD v4
6g.33164936G>TCA449867321COL11A2n.585C>A
c.4779C>A (p.Gly1593=)
c.4458C>A (p.Gly1486=)
c.4521C>A (p.Gly1507=)
n.569C>A
c.3933C>A (p.Gly1311=)
c.4065C>A (p.Gly1355=)
c.3885C>A (p.Gly1295=)
c.3822C>A (p.Gly1274=)
c.3666C>A (p.Gly1222=)
c.3597C>A (p.Gly1199=)
 gnomAD v4
6g.33164937C>ACA363617723COL11A2n.584G>T
c.4778G>T (p.Gly1593Val)
c.4457G>T (p.Gly1486Val)
c.4520G>T (p.Gly1507Val)
n.568G>T
c.3932G>T (p.Gly1311Val)
c.4064G>T (p.Gly1355Val)
c.3884G>T (p.Gly1295Val)
c.3821G>T (p.Gly1274Val)
c.3665G>T (p.Gly1222Val)
c.3596G>T (p.Gly1199Val)
 gnomAD v4
6g.33164937C>GCA363617726COL11A2n.584G>C
c.4778G>C (p.Gly1593Ala)
c.4457G>C (p.Gly1486Ala)
c.4520G>C (p.Gly1507Ala)
n.568G>C
c.3932G>C (p.Gly1311Ala)
c.4064G>C (p.Gly1355Ala)
c.3884G>C (p.Gly1295Ala)
c.3821G>C (p.Gly1274Ala)
c.3665G>C (p.Gly1222Ala)
c.3596G>C (p.Gly1199Ala)
6g.33164937C>TCA363617727COL11A2n.584G>A
c.4778G>A (p.Gly1593Asp)
c.4457G>A (p.Gly1486Asp)
c.4520G>A (p.Gly1507Asp)
n.568G>A
c.3932G>A (p.Gly1311Asp)
c.4064G>A (p.Gly1355Asp)
c.3884G>A (p.Gly1295Asp)
c.3821G>A (p.Gly1274Asp)
c.3665G>A (p.Gly1222Asp)
c.3596G>A (p.Gly1199Asp)
 gnomAD v4
6g.33164938C>ACA363617731COL11A2n.583G>T
c.4777G>T (p.Gly1593Cys)
c.4456G>T (p.Gly1486Cys)
c.4519G>T (p.Gly1507Cys)
n.567G>T
c.3931G>T (p.Gly1311Cys)
c.4063G>T (p.Gly1355Cys)
c.3883G>T (p.Gly1295Cys)
c.3820G>T (p.Gly1274Cys)
c.3664G>T (p.Gly1222Cys)
c.3595G>T (p.Gly1199Cys)
 gnomAD v4
6g.33164938C=CA1619890567COL11A2n.583G=
c.4777G= (p.Gly1593=)
c.4456G= (p.Gly1486=)
c.4519G= (p.Gly1507=)
n.567G=
c.3931G= (p.Gly1311=)
c.4063G= (p.Gly1355=)
c.3883G= (p.Gly1295=)
c.3820G= (p.Gly1274=)
c.3664G= (p.Gly1222=)
c.3595G= (p.Gly1199=)
6g.33164938C>GCA363617750COL11A2n.583G>C
c.4777G>C (p.Gly1593Arg)
c.4456G>C (p.Gly1486Arg)
c.4519G>C (p.Gly1507Arg)
n.567G>C
c.3931G>C (p.Gly1311Arg)
c.4063G>C (p.Gly1355Arg)
c.3883G>C (p.Gly1295Arg)
c.3820G>C (p.Gly1274Arg)
c.3664G>C (p.Gly1222Arg)
c.3595G>C (p.Gly1199Arg)
6g.33164938C>TCA363617747COL11A2n.583G>A
c.4777G>A (p.Gly1593Ser)
c.4456G>A (p.Gly1486Ser)
c.4519G>A (p.Gly1507Ser)
n.567G>A
c.3931G>A (p.Gly1311Ser)
c.4063G>A (p.Gly1355Ser)
c.3883G>A (p.Gly1295Ser)
c.3820G>A (p.Gly1274Ser)
c.3664G>A (p.Gly1222Ser)
c.3595G>A (p.Gly1199Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164939C>ACA363617753COL11A2n.582G>T
c.4776G>T (p.Gln1592His)
c.4455G>T (p.Gln1485His)
c.4518G>T (p.Gln1506His)
n.566G>T
c.3930G>T (p.Gln1310His)
c.4062G>T (p.Gln1354His)
c.3882G>T (p.Gln1294His)
c.3819G>T (p.Gln1273His)
c.3663G>T (p.Gln1221His)
c.3594G>T (p.Gln1198His)
 gnomAD v4
6g.33164939C=CA1619890574COL11A2n.582G=
c.4776G= (p.Gln1592=)
c.4455G= (p.Gln1485=)
c.4518G= (p.Gln1506=)
n.566G=
c.3930G= (p.Gln1310=)
c.4062G= (p.Gln1354=)
c.3882G= (p.Gln1294=)
c.3819G= (p.Gln1273=)
c.3663G= (p.Gln1221=)
c.3594G= (p.Gln1198=)
6g.33164939C>GCA363617755COL11A2n.582G>C
c.4776G>C (p.Gln1592His)
c.4455G>C (p.Gln1485His)
c.4518G>C (p.Gln1506His)
n.566G>C
c.3930G>C (p.Gln1310His)
c.4062G>C (p.Gln1354His)
c.3882G>C (p.Gln1294His)
c.3819G>C (p.Gln1273His)
c.3663G>C (p.Gln1221His)
c.3594G>C (p.Gln1198His)
6g.33164939C>TCA449867322COL11A2n.582G>A
c.4776G>A (p.Gln1592=)
c.4455G>A (p.Gln1485=)
c.4518G>A (p.Gln1506=)
n.566G>A
c.3930G>A (p.Gln1310=)
c.4062G>A (p.Gln1354=)
c.3882G>A (p.Gln1294=)
c.3819G>A (p.Gln1273=)
c.3663G>A (p.Gln1221=)
c.3594G>A (p.Gln1198=)
 dbSNP gnomAD v2
6g.33164940T>ACA363617758COL11A2n.581A>T
c.4775A>T (p.Gln1592Leu)
c.4454A>T (p.Gln1485Leu)
c.4517A>T (p.Gln1506Leu)
n.565A>T
c.3929A>T (p.Gln1310Leu)
c.4061A>T (p.Gln1354Leu)
c.3881A>T (p.Gln1294Leu)
c.3818A>T (p.Gln1273Leu)
c.3662A>T (p.Gln1221Leu)
c.3593A>T (p.Gln1198Leu)
 gnomAD v4 COSMIC
6g.33164940T>CCA363617761COL11A2n.581A>G
c.4775A>G (p.Gln1592Arg)
c.4454A>G (p.Gln1485Arg)
c.4517A>G (p.Gln1506Arg)
n.565A>G
c.3929A>G (p.Gln1310Arg)
c.4061A>G (p.Gln1354Arg)
c.3881A>G (p.Gln1294Arg)
c.3818A>G (p.Gln1273Arg)
c.3662A>G (p.Gln1221Arg)
c.3593A>G (p.Gln1198Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.33164940T>GCA363617763COL11A2n.581A>C
c.4775A>C (p.Gln1592Pro)
c.4454A>C (p.Gln1485Pro)
c.4517A>C (p.Gln1506Pro)
n.565A>C
c.3929A>C (p.Gln1310Pro)
c.4061A>C (p.Gln1354Pro)
c.3881A>C (p.Gln1294Pro)
c.3818A>C (p.Gln1273Pro)
c.3662A>C (p.Gln1221Pro)
c.3593A>C (p.Gln1198Pro)
6g.33164940T=CA1619890578COL11A2n.581A=
c.4775A= (p.Gln1592=)
c.4454A= (p.Gln1485=)
c.4517A= (p.Gln1506=)
n.565A=
c.3929A= (p.Gln1310=)
c.4061A= (p.Gln1354=)
c.3881A= (p.Gln1294=)
c.3818A= (p.Gln1273=)
c.3662A= (p.Gln1221=)
c.3593A= (p.Gln1198=)
6g.33164941G>ACA363617767COL11A2n.580C>T
c.4774C>T (p.Gln1592Ter)
c.4453C>T (p.Gln1485Ter)
c.4516C>T (p.Gln1506Ter)
n.564C>T
c.3928C>T (p.Gln1310Ter)
c.4060C>T (p.Gln1354Ter)
c.3880C>T (p.Gln1294Ter)
c.3817C>T (p.Gln1273Ter)
c.3661C>T (p.Gln1221Ter)
c.3592C>T (p.Gln1198Ter)
 gnomAD v4
6g.33164941G>CCA363617770COL11A2n.580C>G
c.4774C>G (p.Gln1592Glu)
c.4453C>G (p.Gln1485Glu)
c.4516C>G (p.Gln1506Glu)
n.564C>G
c.3928C>G (p.Gln1310Glu)
c.4060C>G (p.Gln1354Glu)
c.3880C>G (p.Gln1294Glu)
c.3817C>G (p.Gln1273Glu)
c.3661C>G (p.Gln1221Glu)
c.3592C>G (p.Gln1198Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.33164941G=CA1619890582COL11A2n.580C=
c.4774C= (p.Gln1592=)
c.4453C= (p.Gln1485=)
c.4516C= (p.Gln1506=)
n.564C=
c.3928C= (p.Gln1310=)
c.4060C= (p.Gln1354=)
c.3880C= (p.Gln1294=)
c.3817C= (p.Gln1273=)
c.3661C= (p.Gln1221=)
c.3592C= (p.Gln1198=)
6g.33164941G>TCA363617772COL11A2n.580C>A
c.4774C>A (p.Gln1592Lys)
c.4453C>A (p.Gln1485Lys)
c.4516C>A (p.Gln1506Lys)
n.564C>A
c.3928C>A (p.Gln1310Lys)
c.4060C>A (p.Gln1354Lys)
c.3880C>A (p.Gln1294Lys)
c.3817C>A (p.Gln1273Lys)
c.3661C>A (p.Gln1221Lys)
c.3592C>A (p.Gln1198Lys)
 gnomAD v4
6g.33164942G>ACA449867323COL11A2n.579C>T
c.4773C>T (p.Asn1591=)
c.4452C>T (p.Asn1484=)
c.4515C>T (p.Asn1505=)
n.563C>T
c.3927C>T (p.Asn1309=)
c.4059C>T (p.Asn1353=)
c.3879C>T (p.Asn1293=)
c.3816C>T (p.Asn1272=)
c.3660C>T (p.Asn1220=)
c.3591C>T (p.Asn1197=)
 ClinVar dbSNP gnomAD v4
6g.33164942G>CCA363617774COL11A2n.579C>G
c.4773C>G (p.Asn1591Lys)
c.4452C>G (p.Asn1484Lys)
c.4515C>G (p.Asn1505Lys)
n.563C>G
c.3927C>G (p.Asn1309Lys)
c.4059C>G (p.Asn1353Lys)
c.3879C>G (p.Asn1293Lys)
c.3816C>G (p.Asn1272Lys)
c.3660C>G (p.Asn1220Lys)
c.3591C>G (p.Asn1197Lys)
6g.33164942G=CA1619890586COL11A2n.579C=
c.4773C= (p.Asn1591=)
c.4452C= (p.Asn1484=)
c.4515C= (p.Asn1505=)
n.563C=
c.3927C= (p.Asn1309=)
c.4059C= (p.Asn1353=)
c.3879C= (p.Asn1293=)
c.3816C= (p.Asn1272=)
c.3660C= (p.Asn1220=)
c.3591C= (p.Asn1197=)
6g.33164942G>TCA363617776COL11A2n.579C>A
c.4773C>A (p.Asn1591Lys)
c.4452C>A (p.Asn1484Lys)
c.4515C>A (p.Asn1505Lys)
n.563C>A
c.3927C>A (p.Asn1309Lys)
c.4059C>A (p.Asn1353Lys)
c.3879C>A (p.Asn1293Lys)
c.3816C>A (p.Asn1272Lys)
c.3660C>A (p.Asn1220Lys)
c.3591C>A (p.Asn1197Lys)
 gnomAD v4
6g.33164943T>ACA363617780COL11A2n.578A>T
c.4772A>T (p.Asn1591Ile)
c.4451A>T (p.Asn1484Ile)
c.4514A>T (p.Asn1505Ile)
n.562A>T
c.3926A>T (p.Asn1309Ile)
c.4058A>T (p.Asn1353Ile)
c.3878A>T (p.Asn1293Ile)
c.3815A>T (p.Asn1272Ile)
c.3659A>T (p.Asn1220Ile)
c.3590A>T (p.Asn1197Ile)
 gnomAD v4
6g.33164943T>CCA363617783COL11A2n.578A>G
c.4772A>G (p.Asn1591Ser)
c.4451A>G (p.Asn1484Ser)
c.4514A>G (p.Asn1505Ser)
n.562A>G
c.3926A>G (p.Asn1309Ser)
c.4058A>G (p.Asn1353Ser)
c.3878A>G (p.Asn1293Ser)
c.3815A>G (p.Asn1272Ser)
c.3659A>G (p.Asn1220Ser)
c.3590A>G (p.Asn1197Ser)
 gnomAD v4
6g.33164943T>GCA363617785COL11A2n.578A>C
c.4772A>C (p.Asn1591Thr)
c.4451A>C (p.Asn1484Thr)
c.4514A>C (p.Asn1505Thr)
n.562A>C
c.3926A>C (p.Asn1309Thr)
c.4058A>C (p.Asn1353Thr)
c.3878A>C (p.Asn1293Thr)
c.3815A>C (p.Asn1272Thr)
c.3659A>C (p.Asn1220Thr)
c.3590A>C (p.Asn1197Thr)
6g.33164944delCA2678226389COL11A2n.578del
c.4772del (p.Asn1591ThrfsTer23)
c.4451del (p.Asn1484ThrfsTer23)
c.4514del (p.Asn1505ThrfsTer23)
n.562del
c.3926del (p.Asn1309ThrfsTer23)
c.4058del (p.Asn1353ThrfsTer23)
c.3878del (p.Asn1293ThrfsTer23)
c.3815del (p.Asn1272ThrfsTer23)
c.3659del (p.Asn1220ThrfsTer23)
c.3590del (p.Asn1197ThrfsTer23)
 gnomAD v4
6g.33164944T>ACA363617790COL11A2n.577A>T
c.4771A>T (p.Asn1591Tyr)
c.4450A>T (p.Asn1484Tyr)
c.4513A>T (p.Asn1505Tyr)
n.561A>T
c.3925A>T (p.Asn1309Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3877A>T (p.Asn1293Tyr)
c.3814A>T (p.Asn1272Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3589A>T (p.Asn1197Tyr)
6g.33164944T>CCA363617794COL11A2n.577A>G
c.4771A>G (p.Asn1591Asp)
c.4450A>G (p.Asn1484Asp)
c.4513A>G (p.Asn1505Asp)
n.561A>G
c.3925A>G (p.Asn1309Asp)
c.4057A>G (p.Asn1353Asp)
c.3877A>G (p.Asn1293Asp)
c.3814A>G (p.Asn1272Asp)
c.3658A>G (p.Asn1220Asp)
c.3589A>G (p.Asn1197Asp)
 gnomAD v4
6g.33164944T>GCA363617793COL11A2n.577A>C
c.4771A>C (p.Asn1591His)
c.4450A>C (p.Asn1484His)
c.4513A>C (p.Asn1505His)
n.561A>C
c.3925A>C (p.Asn1309His)
c.4057A>C (p.Asn1353His)
c.3877A>C (p.Asn1293His)
c.3814A>C (p.Asn1272His)
c.3658A>C (p.Asn1220His)
c.3589A>C (p.Asn1197His)
6g.33164945G>ACA3749996COL11A2n.576C>T
c.4770C>T (p.Pro1590=)
c.4449C>T (p.Pro1483=)
c.4512C>T (p.Pro1504=)
n.560C>T
c.3924C>T (p.Pro1308=)
c.4056C>T (p.Pro1352=)
c.3876C>T (p.Pro1292=)
c.3813C>T (p.Pro1271=)
c.3657C>T (p.Pro1219=)
c.3588C>T (p.Pro1196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164945G>CCA449867325COL11A2n.576C>G
c.4770C>G (p.Pro1590=)
c.4449C>G (p.Pro1483=)
c.4512C>G (p.Pro1504=)
n.560C>G
c.3924C>G (p.Pro1308=)
c.4056C>G (p.Pro1352=)
c.3876C>G (p.Pro1292=)
c.3813C>G (p.Pro1271=)
c.3657C>G (p.Pro1219=)
c.3588C>G (p.Pro1196=)
6g.33164945G=CA1619890590COL11A2n.576C=
c.4770C= (p.Pro1590=)
c.4449C= (p.Pro1483=)
c.4512C= (p.Pro1504=)
n.560C=
c.3924C= (p.Pro1308=)
c.4056C= (p.Pro1352=)
c.3876C= (p.Pro1292=)
c.3813C= (p.Pro1271=)
c.3657C= (p.Pro1219=)
c.3588C= (p.Pro1196=)
6g.33164945G>TCA449867324COL11A2n.576C>A
c.4770C>A (p.Pro1590=)
c.4449C>A (p.Pro1483=)
c.4512C>A (p.Pro1504=)
n.560C>A
c.3924C>A (p.Pro1308=)
c.4056C>A (p.Pro1352=)
c.3876C>A (p.Pro1292=)
c.3813C>A (p.Pro1271=)
c.3657C>A (p.Pro1219=)
c.3588C>A (p.Pro1196=)
 gnomAD v4
6g.33164948delCA2678226393COL11A2n.576del
c.4770del (p.Asn1591ThrfsTer23)
c.4449del (p.Asn1484ThrfsTer23)
c.4512del (p.Asn1505ThrfsTer23)
n.560del
c.3924del (p.Asn1309ThrfsTer23)
c.4056del (p.Asn1353ThrfsTer23)
c.3876del (p.Asn1293ThrfsTer23)
c.3813del (p.Asn1272ThrfsTer23)
c.3657del (p.Asn1220ThrfsTer23)
c.3588del (p.Asn1197ThrfsTer23)
 gnomAD v4
6g.33164946G>ACA363617800COL11A2n.575C>T
c.4769C>T (p.Pro1590Leu)
c.4448C>T (p.Pro1483Leu)
c.4511C>T (p.Pro1504Leu)
n.559C>T
c.3923C>T (p.Pro1308Leu)
c.4055C>T (p.Pro1352Leu)
c.3875C>T (p.Pro1292Leu)
c.3812C>T (p.Pro1271Leu)
c.3656C>T (p.Pro1219Leu)
c.3587C>T (p.Pro1196Leu)
 gnomAD v4
6g.33164946G>CCA363617803COL11A2n.575C>G
c.4769C>G (p.Pro1590Arg)
c.4448C>G (p.Pro1483Arg)
c.4511C>G (p.Pro1504Arg)
n.559C>G
c.3923C>G (p.Pro1308Arg)
c.4055C>G (p.Pro1352Arg)
c.3875C>G (p.Pro1292Arg)
c.3812C>G (p.Pro1271Arg)
c.3656C>G (p.Pro1219Arg)
c.3587C>G (p.Pro1196Arg)
6g.33164946G>TCA363617806COL11A2n.575C>A
c.4769C>A (p.Pro1590His)
c.4448C>A (p.Pro1483His)
c.4511C>A (p.Pro1504His)
n.559C>A
c.3923C>A (p.Pro1308His)
c.4055C>A (p.Pro1352His)
c.3875C>A (p.Pro1292His)
c.3812C>A (p.Pro1271His)
c.3656C>A (p.Pro1219His)
c.3587C>A (p.Pro1196His)
 gnomAD v4
6g.33164947G>ACA363617808COL11A2n.574C>T
c.4768C>T (p.Pro1590Ser)
c.4447C>T (p.Pro1483Ser)
c.4510C>T (p.Pro1504Ser)
n.558C>T
c.3922C>T (p.Pro1308Ser)
c.4054C>T (p.Pro1352Ser)
c.3874C>T (p.Pro1292Ser)
c.3811C>T (p.Pro1271Ser)
c.3655C>T (p.Pro1219Ser)
c.3586C>T (p.Pro1196Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.33164947G>CCA363617810COL11A2n.574C>G
c.4768C>G (p.Pro1590Ala)
c.4447C>G (p.Pro1483Ala)
c.4510C>G (p.Pro1504Ala)
n.558C>G
c.3922C>G (p.Pro1308Ala)
c.4054C>G (p.Pro1352Ala)
c.3874C>G (p.Pro1292Ala)
c.3811C>G (p.Pro1271Ala)
c.3655C>G (p.Pro1219Ala)
c.3586C>G (p.Pro1196Ala)
6g.33164947G=CA1619890595COL11A2n.574C=
c.4768C= (p.Pro1590=)
c.4447C= (p.Pro1483=)
c.4510C= (p.Pro1504=)
n.558C=
c.3922C= (p.Pro1308=)
c.4054C= (p.Pro1352=)
c.3874C= (p.Pro1292=)
c.3811C= (p.Pro1271=)
c.3655C= (p.Pro1219=)
c.3586C= (p.Pro1196=)
6g.33164947G>TCA363617812COL11A2n.574C>A
c.4768C>A (p.Pro1590Thr)
c.4447C>A (p.Pro1483Thr)
c.4510C>A (p.Pro1504Thr)
n.558C>A
c.3922C>A (p.Pro1308Thr)
c.4054C>A (p.Pro1352Thr)
c.3874C>A (p.Pro1292Thr)
c.3811C>A (p.Pro1271Thr)
c.3655C>A (p.Pro1219Thr)
c.3586C>A (p.Pro1196Thr)
 gnomAD v4 COSMIC
6g.33164948G>ACA10606444COL11A2n.573C>T
c.4767C>T (p.Asp1589=)
c.4446C>T (p.Asp1482=)
c.4509C>T (p.Asp1503=)
n.557C>T
c.3921C>T (p.Asp1307=)
c.4053C>T (p.Asp1351=)
c.3873C>T (p.Asp1291=)
c.3810C>T (p.Asp1270=)
c.3654C>T (p.Asp1218=)
c.3585C>T (p.Asp1195=)
 ClinVar dbSNP gnomAD v4
6g.33164948G>CCA363617817COL11A2n.573C>G
c.4767C>G (p.Asp1589Glu)
c.4446C>G (p.Asp1482Glu)
c.4509C>G (p.Asp1503Glu)
n.557C>G
c.3921C>G (p.Asp1307Glu)
c.4053C>G (p.Asp1351Glu)
c.3873C>G (p.Asp1291Glu)
c.3810C>G (p.Asp1270Glu)
c.3654C>G (p.Asp1218Glu)
c.3585C>G (p.Asp1195Glu)
 gnomAD v4
6g.33164948G=CA1619890602COL11A2n.573C=
c.4767C= (p.Asp1589=)
c.4446C= (p.Asp1482=)
c.4509C= (p.Asp1503=)
n.557C=
c.3921C= (p.Asp1307=)
c.4053C= (p.Asp1351=)
c.3873C= (p.Asp1291=)
c.3810C= (p.Asp1270=)
c.3654C= (p.Asp1218=)
c.3585C= (p.Asp1195=)
6g.33164948G>TCA363617820COL11A2n.573C>A
c.4767C>A (p.Asp1589Glu)
c.4446C>A (p.Asp1482Glu)
c.4509C>A (p.Asp1503Glu)
n.557C>A
c.3921C>A (p.Asp1307Glu)
c.4053C>A (p.Asp1351Glu)
c.3873C>A (p.Asp1291Glu)
c.3810C>A (p.Asp1270Glu)
c.3654C>A (p.Asp1218Glu)
c.3585C>A (p.Asp1195Glu)
 gnomAD v4
6g.33164949T>ACA363617825COL11A2n.572A>T
c.4766A>T (p.Asp1589Val)
c.4445A>T (p.Asp1482Val)
c.4508A>T (p.Asp1503Val)
n.556A>T
c.3920A>T (p.Asp1307Val)
c.4052A>T (p.Asp1351Val)
c.3872A>T (p.Asp1291Val)
c.3809A>T (p.Asp1270Val)
c.3653A>T (p.Asp1218Val)
c.3584A>T (p.Asp1195Val)
 gnomAD v4
6g.33164949T>CCA363617828COL11A2n.572A>G
c.4766A>G (p.Asp1589Gly)
c.4445A>G (p.Asp1482Gly)
c.4508A>G (p.Asp1503Gly)
n.556A>G
c.3920A>G (p.Asp1307Gly)
c.4052A>G (p.Asp1351Gly)
c.3872A>G (p.Asp1291Gly)
c.3809A>G (p.Asp1270Gly)
c.3653A>G (p.Asp1218Gly)
c.3584A>G (p.Asp1195Gly)
 ClinVar gnomAD v4
6g.33164949T>GCA363617822COL11A2n.572A>C
c.4766A>C (p.Asp1589Ala)
c.4445A>C (p.Asp1482Ala)
c.4508A>C (p.Asp1503Ala)
n.556A>C
c.3920A>C (p.Asp1307Ala)
c.4052A>C (p.Asp1351Ala)
c.3872A>C (p.Asp1291Ala)
c.3809A>C (p.Asp1270Ala)
c.3653A>C (p.Asp1218Ala)
c.3584A>C (p.Asp1195Ala)
6g.33164950delCA2678226407COL11A2n.571del
c.4765del (p.Asp1589ThrfsTer25)
c.4444del (p.Asp1482ThrfsTer25)
c.4507del (p.Asp1503ThrfsTer25)
n.555del
c.3919del (p.Asp1307ThrfsTer25)
c.4051del (p.Asp1351ThrfsTer25)
c.3871del (p.Asp1291ThrfsTer25)
c.3808del (p.Asp1270ThrfsTer25)
c.3652del (p.Asp1218ThrfsTer25)
c.3583del (p.Asp1195ThrfsTer25)
 gnomAD v4
6g.33164950C>ACA363617837COL11A2n.571G>T
c.4765G>T (p.Asp1589Tyr)
c.4444G>T (p.Asp1482Tyr)
c.4507G>T (p.Asp1503Tyr)
n.555G>T
c.3919G>T (p.Asp1307Tyr)
c.4051G>T (p.Asp1351Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3808G>T (p.Asp1270Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3583G>T (p.Asp1195Tyr)
 gnomAD v4
6g.33164950C=CA1619890609COL11A2n.571G=
c.4765G= (p.Asp1589=)
c.4444G= (p.Asp1482=)
c.4507G= (p.Asp1503=)
n.555G=
c.3919G= (p.Asp1307=)
c.4051G= (p.Asp1351=)
c.3871G= (p.Asp1291=)
c.3808G= (p.Asp1270=)
c.3652G= (p.Asp1218=)
c.3583G= (p.Asp1195=)
6g.33164950C>GCA363617832COL11A2n.571G>C
c.4765G>C (p.Asp1589His)
c.4444G>C (p.Asp1482His)
c.4507G>C (p.Asp1503His)
n.555G>C
c.3919G>C (p.Asp1307His)
c.4051G>C (p.Asp1351His)
c.3871G>C (p.Asp1291His)
c.3808G>C (p.Asp1270His)
c.3652G>C (p.Asp1218His)
c.3583G>C (p.Asp1195His)
 gnomAD v4
6g.33164950C>TCA363617835COL11A2n.571G>A
c.4765G>A (p.Asp1589Asn)
c.4444G>A (p.Asp1482Asn)
c.4507G>A (p.Asp1503Asn)
n.555G>A
c.3919G>A (p.Asp1307Asn)
c.4051G>A (p.Asp1351Asn)
c.3871G>A (p.Asp1291Asn)
c.3808G>A (p.Asp1270Asn)
c.3652G>A (p.Asp1218Asn)
c.3583G>A (p.Asp1195Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.33164951G>ACA3749997COL11A2n.570C>T
c.4764C>T (p.Val1588=)
c.4443C>T (p.Val1481=)
c.4506C>T (p.Val1502=)
n.554C>T
c.3918C>T (p.Val1306=)
c.4050C>T (p.Val1350=)
c.3870C>T (p.Val1290=)
c.3807C>T (p.Val1269=)
c.3651C>T (p.Val1217=)
c.3582C>T (p.Val1194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164951G>CCA449867326COL11A2n.570C>G
c.4764C>G (p.Val1588=)
c.4443C>G (p.Val1481=)
c.4506C>G (p.Val1502=)
n.554C>G
c.3918C>G (p.Val1306=)
c.4050C>G (p.Val1350=)
c.3870C>G (p.Val1290=)
c.3807C>G (p.Val1269=)
c.3651C>G (p.Val1217=)
c.3582C>G (p.Val1194=)
 ClinVar gnomAD v4
6g.33164951G=CA1619890613COL11A2n.570C=
c.4764C= (p.Val1588=)
c.4443C= (p.Val1481=)
c.4506C= (p.Val1502=)
n.554C=
c.3918C= (p.Val1306=)
c.4050C= (p.Val1350=)
c.3870C= (p.Val1290=)
c.3807C= (p.Val1269=)
c.3651C= (p.Val1217=)
c.3582C= (p.Val1194=)
6g.33164951G>TCA449867327COL11A2n.570C>A
c.4764C>A (p.Val1588=)
c.4443C>A (p.Val1481=)
c.4506C>A (p.Val1502=)
n.554C>A
c.3918C>A (p.Val1306=)
c.4050C>A (p.Val1350=)
c.3870C>A (p.Val1290=)
c.3807C>A (p.Val1269=)
c.3651C>A (p.Val1217=)
c.3582C>A (p.Val1194=)
 gnomAD v4
6g.33164952A=CA1619890619COL11A2n.569T=
c.4763T= (p.Val1588=)
c.4442T= (p.Val1481=)
c.4505T= (p.Val1502=)
n.553T=
c.3917T= (p.Val1306=)
c.4049T= (p.Val1350=)
c.3869T= (p.Val1290=)
c.3806T= (p.Val1269=)
c.3650T= (p.Val1217=)
c.3581T= (p.Val1194=)
6g.33164952A>CCA363617843COL11A2n.569T>G
c.4763T>G (p.Val1588Gly)
c.4442T>G (p.Val1481Gly)
c.4505T>G (p.Val1502Gly)
n.553T>G
c.3917T>G (p.Val1306Gly)
c.4049T>G (p.Val1350Gly)
c.3869T>G (p.Val1290Gly)
c.3806T>G (p.Val1269Gly)
c.3650T>G (p.Val1217Gly)
c.3581T>G (p.Val1194Gly)
6g.33164952A>GCA363617846COL11A2n.569T>C
c.4763T>C (p.Val1588Ala)
c.4442T>C (p.Val1481Ala)
c.4505T>C (p.Val1502Ala)
n.553T>C
c.3917T>C (p.Val1306Ala)
c.4049T>C (p.Val1350Ala)
c.3869T>C (p.Val1290Ala)
c.3806T>C (p.Val1269Ala)
c.3650T>C (p.Val1217Ala)
c.3581T>C (p.Val1194Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.33164952A>TCA363617848COL11A2n.569T>A
c.4763T>A (p.Val1588Asp)
c.4442T>A (p.Val1481Asp)
c.4505T>A (p.Val1502Asp)
n.553T>A
c.3917T>A (p.Val1306Asp)
c.4049T>A (p.Val1350Asp)
c.3869T>A (p.Val1290Asp)
c.3806T>A (p.Val1269Asp)
c.3650T>A (p.Val1217Asp)
c.3581T>A (p.Val1194Asp)
6g.33164953C>ACA363617851COL11A2n.568G>T
c.4762G>T (p.Val1588Phe)
c.4441G>T (p.Val1481Phe)
c.4504G>T (p.Val1502Phe)
n.552G>T
c.3916G>T (p.Val1306Phe)
c.4048G>T (p.Val1350Phe)
c.3868G>T (p.Val1290Phe)
c.3805G>T (p.Val1269Phe)
c.3649G>T (p.Val1217Phe)
c.3580G>T (p.Val1194Phe)
 gnomAD v4
6g.33164953C>GCA363617854COL11A2n.568G>C
c.4762G>C (p.Val1588Leu)
c.4441G>C (p.Val1481Leu)
c.4504G>C (p.Val1502Leu)
n.552G>C
c.3916G>C (p.Val1306Leu)
c.4048G>C (p.Val1350Leu)
c.3868G>C (p.Val1290Leu)
c.3805G>C (p.Val1269Leu)
c.3649G>C (p.Val1217Leu)
c.3580G>C (p.Val1194Leu)
6g.33164953C>TCA363617857COL11A2n.568G>A
c.4762G>A (p.Val1588Ile)
c.4441G>A (p.Val1481Ile)
c.4504G>A (p.Val1502Ile)
n.552G>A
c.3916G>A (p.Val1306Ile)
c.4048G>A (p.Val1350Ile)
c.3868G>A (p.Val1290Ile)
c.3805G>A (p.Val1269Ile)
c.3649G>A (p.Val1217Ile)
c.3580G>A (p.Val1194Ile)
6g.33164955delCA2678226419COL11A2n.568del
c.4762del (p.Val1588SerfsTer26)
c.4441del (p.Val1481SerfsTer26)
c.4504del (p.Val1502SerfsTer26)
n.552del
c.3916del (p.Val1306SerfsTer26)
c.4048del (p.Val1350SerfsTer26)
c.3868del (p.Val1290SerfsTer26)
c.3805del (p.Val1269SerfsTer26)
c.3649del (p.Val1217SerfsTer26)
c.3580del (p.Val1194SerfsTer26)
 gnomAD v4
6g.33164954C>ACA363617860COL11A2n.567G>T
c.4761G>T (p.Trp1587Cys)
c.4440G>T (p.Trp1480Cys)
c.4503G>T (p.Trp1501Cys)
n.551G>T
c.3915G>T (p.Trp1305Cys)
c.4047G>T (p.Trp1349Cys)
c.3867G>T (p.Trp1289Cys)
c.3804G>T (p.Trp1268Cys)
c.3648G>T (p.Trp1216Cys)
c.3579G>T (p.Trp1193Cys)
 gnomAD v4
6g.33164954C>GCA363617863COL11A2n.567G>C
c.4761G>C (p.Trp1587Cys)
c.4440G>C (p.Trp1480Cys)
c.4503G>C (p.Trp1501Cys)
n.551G>C
c.3915G>C (p.Trp1305Cys)
c.4047G>C (p.Trp1349Cys)
c.3867G>C (p.Trp1289Cys)
c.3804G>C (p.Trp1268Cys)
c.3648G>C (p.Trp1216Cys)
c.3579G>C (p.Trp1193Cys)
6g.33164954C>TCA363617866COL11A2n.567G>A
c.4761G>A (p.Trp1587Ter)
c.4440G>A (p.Trp1480Ter)
c.4503G>A (p.Trp1501Ter)
n.551G>A
c.3915G>A (p.Trp1305Ter)
c.4047G>A (p.Trp1349Ter)
c.3867G>A (p.Trp1289Ter)
c.3804G>A (p.Trp1268Ter)
c.3648G>A (p.Trp1216Ter)
c.3579G>A (p.Trp1193Ter)
 gnomAD v4
6g.33164955C>ACA363617872COL11A2n.566G>T
c.4760G>T (p.Trp1587Leu)
c.4439G>T (p.Trp1480Leu)
c.4502G>T (p.Trp1501Leu)
n.550G>T
c.3914G>T (p.Trp1305Leu)
c.4046G>T (p.Trp1349Leu)
c.3866G>T (p.Trp1289Leu)
c.3803G>T (p.Trp1268Leu)
c.3647G>T (p.Trp1216Leu)
c.3578G>T (p.Trp1193Leu)
 gnomAD v4
6g.33164955C=CA1619890623COL11A2n.566G=
c.4760G= (p.Trp1587=)
c.4439G= (p.Trp1480=)
c.4502G= (p.Trp1501=)
n.550G=
c.3914G= (p.Trp1305=)
c.4046G= (p.Trp1349=)
c.3866G= (p.Trp1289=)
c.3803G= (p.Trp1268=)
c.3647G= (p.Trp1216=)
c.3578G= (p.Trp1193=)
6g.33164955C>GCA363617874COL11A2n.566G>C
c.4760G>C (p.Trp1587Ser)
c.4439G>C (p.Trp1480Ser)
c.4502G>C (p.Trp1501Ser)
n.550G>C
c.3914G>C (p.Trp1305Ser)
c.4046G>C (p.Trp1349Ser)
c.3866G>C (p.Trp1289Ser)
c.3803G>C (p.Trp1268Ser)
c.3647G>C (p.Trp1216Ser)
c.3578G>C (p.Trp1193Ser)
6g.33164955C>TCA363617869COL11A2n.566G>A
c.4760G>A (p.Trp1587Ter)
c.4439G>A (p.Trp1480Ter)
c.4502G>A (p.Trp1501Ter)
n.550G>A
c.3914G>A (p.Trp1305Ter)
c.4046G>A (p.Trp1349Ter)
c.3866G>A (p.Trp1289Ter)
c.3803G>A (p.Trp1268Ter)
c.3647G>A (p.Trp1216Ter)
c.3578G>A (p.Trp1193Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164956A>CCA363617878COL11A2n.565T>G
c.4759T>G (p.Trp1587Gly)
c.4438T>G (p.Trp1480Gly)
c.4501T>G (p.Trp1501Gly)
n.549T>G
c.3913T>G (p.Trp1305Gly)
c.4045T>G (p.Trp1349Gly)
c.3865T>G (p.Trp1289Gly)
c.3802T>G (p.Trp1268Gly)
c.3646T>G (p.Trp1216Gly)
c.3577T>G (p.Trp1193Gly)
6g.33164956A>GCA363617880COL11A2n.565T>C
c.4759T>C (p.Trp1587Arg)
c.4438T>C (p.Trp1480Arg)
c.4501T>C (p.Trp1501Arg)
n.549T>C
c.3913T>C (p.Trp1305Arg)
c.4045T>C (p.Trp1349Arg)
c.3865T>C (p.Trp1289Arg)
c.3802T>C (p.Trp1268Arg)
c.3646T>C (p.Trp1216Arg)
c.3577T>C (p.Trp1193Arg)
 COSMIC
6g.33164956A>TCA363617883COL11A2n.565T>A
c.4759T>A (p.Trp1587Arg)
c.4438T>A (p.Trp1480Arg)
c.4501T>A (p.Trp1501Arg)
n.549T>A
c.3913T>A (p.Trp1305Arg)
c.4045T>A (p.Trp1349Arg)
c.3865T>A (p.Trp1289Arg)
c.3802T>A (p.Trp1268Arg)
c.3646T>A (p.Trp1216Arg)
c.3577T>A (p.Trp1193Arg)
6g.33164957G>ACA449867328COL11A2n.564C>T
c.4758C>T (p.Tyr1586=)
c.4437C>T (p.Tyr1479=)
c.4500C>T (p.Tyr1500=)
n.548C>T
c.3912C>T (p.Tyr1304=)
c.4044C>T (p.Tyr1348=)
c.3864C>T (p.Tyr1288=)
c.3801C>T (p.Tyr1267=)
c.3645C>T (p.Tyr1215=)
c.3576C>T (p.Tyr1192=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164957G>CCA363617887COL11A2n.564C>G
c.4758C>G (p.Tyr1586Ter)
c.4437C>G (p.Tyr1479Ter)
c.4500C>G (p.Tyr1500Ter)
n.548C>G
c.3912C>G (p.Tyr1304Ter)
c.4044C>G (p.Tyr1348Ter)
c.3864C>G (p.Tyr1288Ter)
c.3801C>G (p.Tyr1267Ter)
c.3645C>G (p.Tyr1215Ter)
c.3576C>G (p.Tyr1192Ter)
 ClinVar gnomAD v4
6g.33164957G=CA1619890626COL11A2n.564C=
c.4758C= (p.Tyr1586=)
c.4437C= (p.Tyr1479=)
c.4500C= (p.Tyr1500=)
n.548C=
c.3912C= (p.Tyr1304=)
c.4044C= (p.Tyr1348=)
c.3864C= (p.Tyr1288=)
c.3801C= (p.Tyr1267=)
c.3645C= (p.Tyr1215=)
c.3576C= (p.Tyr1192=)
6g.33164957G>TCA363617889COL11A2n.564C>A
c.4758C>A (p.Tyr1586Ter)
c.4437C>A (p.Tyr1479Ter)
c.4500C>A (p.Tyr1500Ter)
n.548C>A
c.3912C>A (p.Tyr1304Ter)
c.4044C>A (p.Tyr1348Ter)
c.3864C>A (p.Tyr1288Ter)
c.3801C>A (p.Tyr1267Ter)
c.3645C>A (p.Tyr1215Ter)
c.3576C>A (p.Tyr1192Ter)
6g.33164958T>ACA363617898COL11A2n.563A>T
c.4757A>T (p.Tyr1586Phe)
c.4436A>T (p.Tyr1479Phe)
c.4499A>T (p.Tyr1500Phe)
n.547A>T
c.3911A>T (p.Tyr1304Phe)
c.4043A>T (p.Tyr1348Phe)
c.3863A>T (p.Tyr1288Phe)
c.3800A>T (p.Tyr1267Phe)
c.3644A>T (p.Tyr1215Phe)
c.3575A>T (p.Tyr1192Phe)
6g.33164958T>CCA363617893COL11A2n.563A>G
c.4757A>G (p.Tyr1586Cys)
c.4436A>G (p.Tyr1479Cys)
c.4499A>G (p.Tyr1500Cys)
n.547A>G
c.3911A>G (p.Tyr1304Cys)
c.4043A>G (p.Tyr1348Cys)
c.3863A>G (p.Tyr1288Cys)
c.3800A>G (p.Tyr1267Cys)
c.3644A>G (p.Tyr1215Cys)
c.3575A>G (p.Tyr1192Cys)
6g.33164958T>GCA363617896COL11A2n.563A>C
c.4757A>C (p.Tyr1586Ser)
c.4436A>C (p.Tyr1479Ser)
c.4499A>C (p.Tyr1500Ser)
n.547A>C
c.3911A>C (p.Tyr1304Ser)
c.4043A>C (p.Tyr1348Ser)
c.3863A>C (p.Tyr1288Ser)
c.3800A>C (p.Tyr1267Ser)
c.3644A>C (p.Tyr1215Ser)
c.3575A>C (p.Tyr1192Ser)
6g.33164959A>CCA363617902COL11A2n.562T>G
c.4756T>G (p.Tyr1586Asp)
c.4435T>G (p.Tyr1479Asp)
c.4498T>G (p.Tyr1500Asp)
n.546T>G
c.3910T>G (p.Tyr1304Asp)
c.4042T>G (p.Tyr1348Asp)
c.3862T>G (p.Tyr1288Asp)
c.3799T>G (p.Tyr1267Asp)
c.3643T>G (p.Tyr1215Asp)
c.3574T>G (p.Tyr1192Asp)
6g.33164959A>GCA363617914COL11A2n.562T>C
c.4756T>C (p.Tyr1586His)
c.4435T>C (p.Tyr1479His)
c.4498T>C (p.Tyr1500His)
n.546T>C
c.3910T>C (p.Tyr1304His)
c.4042T>C (p.Tyr1348His)
c.3862T>C (p.Tyr1288His)
c.3799T>C (p.Tyr1267His)
c.3643T>C (p.Tyr1215His)
c.3574T>C (p.Tyr1192His)
 gnomAD v4
6g.33164959A>TCA363617917COL11A2n.562T>A
c.4756T>A (p.Tyr1586Asn)
c.4435T>A (p.Tyr1479Asn)
c.4498T>A (p.Tyr1500Asn)
n.546T>A
c.3910T>A (p.Tyr1304Asn)
c.4042T>A (p.Tyr1348Asn)
c.3862T>A (p.Tyr1288Asn)
c.3799T>A (p.Tyr1267Asn)
c.3643T>A (p.Tyr1215Asn)
c.3574T>A (p.Tyr1192Asn)
6g.33164960C>ACA3749998COL11A2n.561G>T
c.4755G>T (p.Glu1585Asp)
c.4434G>T (p.Glu1478Asp)
c.4497G>T (p.Glu1499Asp)
n.545G>T
c.3909G>T (p.Glu1303Asp)
c.4041G>T (p.Glu1347Asp)
c.3861G>T (p.Glu1287Asp)
c.3798G>T (p.Glu1266Asp)
c.3642G>T (p.Glu1214Asp)
c.3573G>T (p.Glu1191Asp)
 dbSNP ExAC gnomAD v4
6g.33164960C=CA1619890630COL11A2n.561G=
c.4755G= (p.Glu1585=)
c.4434G= (p.Glu1478=)
c.4497G= (p.Glu1499=)
n.545G=
c.3909G= (p.Glu1303=)
c.4041G= (p.Glu1347=)
c.3861G= (p.Glu1287=)
c.3798G= (p.Glu1266=)
c.3642G= (p.Glu1214=)
c.3573G= (p.Glu1191=)
6g.33164960C>GCA137061756COL11A2n.561G>C
c.4755G>C (p.Glu1585Asp)
c.4434G>C (p.Glu1478Asp)
c.4497G>C (p.Glu1499Asp)
n.545G>C
c.3909G>C (p.Glu1303Asp)
c.4041G>C (p.Glu1347Asp)
c.3861G>C (p.Glu1287Asp)
c.3798G>C (p.Glu1266Asp)
c.3642G>C (p.Glu1214Asp)
c.3573G>C (p.Glu1191Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164960C>TCA449867329COL11A2n.561G>A
c.4755G>A (p.Glu1585=)
c.4434G>A (p.Glu1478=)
c.4497G>A (p.Glu1499=)
n.545G>A
c.3909G>A (p.Glu1303=)
c.4041G>A (p.Glu1347=)
c.3861G>A (p.Glu1287=)
c.3798G>A (p.Glu1266=)
c.3642G>A (p.Glu1214=)
c.3573G>A (p.Glu1191=)
6g.33164961T>ACA363617930COL11A2n.560A>T
c.4754A>T (p.Glu1585Val)
c.4433A>T (p.Glu1478Val)
c.4496A>T (p.Glu1499Val)
n.544A>T
c.3908A>T (p.Glu1303Val)
c.4040A>T (p.Glu1347Val)
c.3860A>T (p.Glu1287Val)
c.3797A>T (p.Glu1266Val)
c.3641A>T (p.Glu1214Val)
c.3572A>T (p.Glu1191Val)
6g.33164961T>CCA363617927COL11A2n.560A>G
c.4754A>G (p.Glu1585Gly)
c.4433A>G (p.Glu1478Gly)
c.4496A>G (p.Glu1499Gly)
n.544A>G
c.3908A>G (p.Glu1303Gly)
c.4040A>G (p.Glu1347Gly)
c.3860A>G (p.Glu1287Gly)
c.3797A>G (p.Glu1266Gly)
c.3641A>G (p.Glu1214Gly)
c.3572A>G (p.Glu1191Gly)
6g.33164961T>GCA363617924COL11A2n.560A>C
c.4754A>C (p.Glu1585Ala)
c.4433A>C (p.Glu1478Ala)
c.4496A>C (p.Glu1499Ala)
n.544A>C
c.3908A>C (p.Glu1303Ala)
c.4040A>C (p.Glu1347Ala)
c.3860A>C (p.Glu1287Ala)
c.3797A>C (p.Glu1266Ala)
c.3641A>C (p.Glu1214Ala)
c.3572A>C (p.Glu1191Ala)
6g.33164962C>ACA363617933COL11A2n.559G>T
c.4753G>T (p.Glu1585Ter)
c.4432G>T (p.Glu1478Ter)
c.4495G>T (p.Glu1499Ter)
n.543G>T
c.3907G>T (p.Glu1303Ter)
c.4039G>T (p.Glu1347Ter)
c.3859G>T (p.Glu1287Ter)
c.3796G>T (p.Glu1266Ter)
c.3640G>T (p.Glu1214Ter)
c.3571G>T (p.Glu1191Ter)
 gnomAD v4
6g.33164962C=CA1619890639COL11A2n.559G=
c.4753G= (p.Glu1585=)
c.4432G= (p.Glu1478=)
c.4495G= (p.Glu1499=)
n.543G=
c.3907G= (p.Glu1303=)
c.4039G= (p.Glu1347=)
c.3859G= (p.Glu1287=)
c.3796G= (p.Glu1266=)
c.3640G= (p.Glu1214=)
c.3571G= (p.Glu1191=)
6g.33164962C>GCA137061758COL11A2n.559G>C
c.4753G>C (p.Glu1585Gln)
c.4432G>C (p.Glu1478Gln)
c.4495G>C (p.Glu1499Gln)
n.543G>C
c.3907G>C (p.Glu1303Gln)
c.4039G>C (p.Glu1347Gln)
c.3859G>C (p.Glu1287Gln)
c.3796G>C (p.Glu1266Gln)
c.3640G>C (p.Glu1214Gln)
c.3571G>C (p.Glu1191Gln)
 ClinVar dbSNP
6g.33164962C>TCA363617939COL11A2n.559G>A
c.4753G>A (p.Glu1585Lys)
c.4432G>A (p.Glu1478Lys)
c.4495G>A (p.Glu1499Lys)
n.543G>A
c.3907G>A (p.Glu1303Lys)
c.4039G>A (p.Glu1347Lys)
c.3859G>A (p.Glu1287Lys)
c.3796G>A (p.Glu1266Lys)
c.3640G>A (p.Glu1214Lys)
c.3571G>A (p.Glu1191Lys)
 gnomAD v4
6g.33164963T>ACA449867330COL11A2n.558A>T
c.4752A>T (p.Gly1584=)
c.4431A>T (p.Gly1477=)
c.4494A>T (p.Gly1498=)
n.542A>T
c.3906A>T (p.Gly1302=)
c.4038A>T (p.Gly1346=)
c.3858A>T (p.Gly1286=)
c.3795A>T (p.Gly1265=)
c.3639A>T (p.Gly1213=)
c.3570A>T (p.Gly1190=)
 ClinVar
6g.33164963T>CCA449867331COL11A2n.558A>G
c.4752A>G (p.Gly1584=)
c.4431A>G (p.Gly1477=)
c.4494A>G (p.Gly1498=)
n.542A>G
c.3906A>G (p.Gly1302=)
c.4038A>G (p.Gly1346=)
c.3858A>G (p.Gly1286=)
c.3795A>G (p.Gly1265=)
c.3639A>G (p.Gly1213=)
c.3570A>G (p.Gly1190=)
 ClinVar dbSNP gnomAD v4
6g.33164963T>GCA449867332COL11A2n.558A>C
c.4752A>C (p.Gly1584=)
c.4431A>C (p.Gly1477=)
c.4494A>C (p.Gly1498=)
n.542A>C
c.3906A>C (p.Gly1302=)
c.4038A>C (p.Gly1346=)
c.3858A>C (p.Gly1286=)
c.3795A>C (p.Gly1265=)
c.3639A>C (p.Gly1213=)
c.3570A>C (p.Gly1190=)
6g.33164963T=CA1619890641COL11A2n.558A=
c.4752A= (p.Gly1584=)
c.4431A= (p.Gly1477=)
c.4494A= (p.Gly1498=)
n.542A=
c.3906A= (p.Gly1302=)
c.4038A= (p.Gly1346=)
c.3858A= (p.Gly1286=)
c.3795A= (p.Gly1265=)
c.3639A= (p.Gly1213=)
c.3570A= (p.Gly1190=)
6g.33164964C>ACA363617942COL11A2n.557G>T
c.4751G>T (p.Gly1584Val)
c.4430G>T (p.Gly1477Val)
c.4493G>T (p.Gly1498Val)
n.541G>T
c.3905G>T (p.Gly1302Val)
c.4037G>T (p.Gly1346Val)
c.3857G>T (p.Gly1286Val)
c.3794G>T (p.Gly1265Val)
c.3638G>T (p.Gly1213Val)
c.3569G>T (p.Gly1190Val)
 gnomAD v4
6g.33164964C>GCA363617944COL11A2n.557G>C
c.4751G>C (p.Gly1584Ala)
c.4430G>C (p.Gly1477Ala)
c.4493G>C (p.Gly1498Ala)
n.541G>C
c.3905G>C (p.Gly1302Ala)
c.4037G>C (p.Gly1346Ala)
c.3857G>C (p.Gly1286Ala)
c.3794G>C (p.Gly1265Ala)
c.3638G>C (p.Gly1213Ala)
c.3569G>C (p.Gly1190Ala)
6g.33164964C>TCA363617945COL11A2n.557G>A
c.4751G>A (p.Gly1584Glu)
c.4430G>A (p.Gly1477Glu)
c.4493G>A (p.Gly1498Glu)
n.541G>A
c.3905G>A (p.Gly1302Glu)
c.4037G>A (p.Gly1346Glu)
c.3857G>A (p.Gly1286Glu)
c.3794G>A (p.Gly1265Glu)
c.3638G>A (p.Gly1213Glu)
c.3569G>A (p.Gly1190Glu)
 gnomAD v4
6g.33164965C>ACA363617949COL11A2n.557-1G>T
c.4751-1G>T (n.4751-1G>T)
c.4430-1G>T (n.4430-1G>T)
c.4493-1G>T (n.4493-1G>T)
n.541-1G>T
c.3905-1G>T (n.3905-1G>T)
c.4037-1G>T (n.4037-1G>T)
c.3857-1G>T (n.3857-1G>T)
c.3794-1G>T (n.3794-1G>T)
c.3638-1G>T (n.3638-1G>T)
c.3569-1G>T (n.3569-1G>T)
 gnomAD v4
6g.33164965C=CA1619890644COL11A2n.557-1G=
c.4751-1G= (n.4751-1G=)
c.4430-1G= (n.4430-1G=)
c.4493-1G= (n.4493-1G=)
n.541-1G=
c.3905-1G= (n.3905-1G=)
c.4037-1G= (n.4037-1G=)
c.3857-1G= (n.3857-1G=)
c.3794-1G= (n.3794-1G=)
c.3638-1G= (n.3638-1G=)
c.3569-1G= (n.3569-1G=)
6g.33164965C>GCA363617950COL11A2n.557-1G>C
c.4751-1G>C (n.4751-1G>C)
c.4430-1G>C (n.4430-1G>C)
c.4493-1G>C (n.4493-1G>C)
n.541-1G>C
c.3905-1G>C (n.3905-1G>C)
c.4037-1G>C (n.4037-1G>C)
c.3857-1G>C (n.3857-1G>C)
c.3794-1G>C (n.3794-1G>C)
c.3638-1G>C (n.3638-1G>C)
c.3569-1G>C (n.3569-1G>C)
6g.33164965C>TCA363617953COL11A2n.557-1G>A
c.4751-1G>A (n.4751-1G>A)
c.4430-1G>A (n.4430-1G>A)
c.4493-1G>A (n.4493-1G>A)
n.541-1G>A
c.3905-1G>A (n.3905-1G>A)
c.4037-1G>A (n.4037-1G>A)
c.3857-1G>A (n.3857-1G>A)
c.3794-1G>A (n.3794-1G>A)
c.3638-1G>A (n.3638-1G>A)
c.3569-1G>A (n.3569-1G>A)
 dbSNP
6g.33164966T>ACA363617955COL11A2n.557-2A>T
c.4751-2A>T (n.4751-2A>T)
c.4430-2A>T (n.4430-2A>T)
c.4493-2A>T (n.4493-2A>T)
n.541-2A>T
c.3905-2A>T (n.3905-2A>T)
c.4037-2A>T (n.4037-2A>T)
c.3857-2A>T (n.3857-2A>T)
c.3794-2A>T (n.3794-2A>T)
c.3638-2A>T (n.3638-2A>T)
c.3569-2A>T (n.3569-2A>T)
6g.33164966T>CCA363617958COL11A2n.557-2A>G
c.4751-2A>G (n.4751-2A>G)
c.4430-2A>G (n.4430-2A>G)
c.4493-2A>G (n.4493-2A>G)
n.541-2A>G
c.3905-2A>G (n.3905-2A>G)
c.4037-2A>G (n.4037-2A>G)
c.3857-2A>G (n.3857-2A>G)
c.3794-2A>G (n.3794-2A>G)
c.3638-2A>G (n.3638-2A>G)
c.3569-2A>G (n.3569-2A>G)
 gnomAD v4
6g.33164966T>GCA363617960COL11A2n.557-2A>C
c.4751-2A>C (n.4751-2A>C)
c.4430-2A>C (n.4430-2A>C)
c.4493-2A>C (n.4493-2A>C)
n.541-2A>C
c.3905-2A>C (n.3905-2A>C)
c.4037-2A>C (n.4037-2A>C)
c.3857-2A>C (n.3857-2A>C)
c.3794-2A>C (n.3794-2A>C)
c.3638-2A>C (n.3638-2A>C)
c.3569-2A>C (n.3569-2A>C)
6g.33164967G>ACA566424999COL11A2n.557-3C>T
c.4751-3C>T (n.4751-3C>T)
c.4430-3C>T (n.4430-3C>T)
c.4493-3C>T (n.4493-3C>T)
n.541-3C>T
c.3905-3C>T (n.3905-3C>T)
c.4037-3C>T (n.4037-3C>T)
c.3857-3C>T (n.3857-3C>T)
c.3794-3C>T (n.3794-3C>T)
c.3638-3C>T (n.3638-3C>T)
c.3569-3C>T (n.3569-3C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.33164967G=CA1619890646COL11A2n.557-3C=
c.4751-3C= (n.4751-3C=)
c.4430-3C= (n.4430-3C=)
c.4493-3C= (n.4493-3C=)
n.541-3C=
c.3905-3C= (n.3905-3C=)
c.4037-3C= (n.4037-3C=)
c.3857-3C= (n.3857-3C=)
c.3794-3C= (n.3794-3C=)
c.3638-3C= (n.3638-3C=)
c.3569-3C= (n.3569-3C=)
6g.33164967G>TCA2678226454COL11A2n.557-3C>A
c.4751-3C>A (n.4751-3C>A)
c.4430-3C>A (n.4430-3C>A)
c.4493-3C>A (n.4493-3C>A)
n.541-3C>A
c.3905-3C>A (n.3905-3C>A)
c.4037-3C>A (n.4037-3C>A)
c.3857-3C>A (n.3857-3C>A)
c.3794-3C>A (n.3794-3C>A)
c.3638-3C>A (n.3638-3C>A)
c.3569-3C>A (n.3569-3C>A)
 gnomAD v4
6g.33164968T>CCA566425000COL11A2n.557-4A>G
c.4751-4A>G (n.4751-4A>G)
c.4430-4A>G (n.4430-4A>G)
c.4493-4A>G (n.4493-4A>G)
n.541-4A>G
c.3905-4A>G (n.3905-4A>G)
c.4037-4A>G (n.4037-4A>G)
c.3857-4A>G (n.3857-4A>G)
c.3794-4A>G (n.3794-4A>G)
c.3638-4A>G (n.3638-4A>G)
c.3569-4A>G (n.3569-4A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.33164968T=CA1619890650COL11A2n.557-4A=
c.4751-4A= (n.4751-4A=)
c.4430-4A= (n.4430-4A=)
c.4493-4A= (n.4493-4A=)
n.541-4A=
c.3905-4A= (n.3905-4A=)
c.4037-4A= (n.4037-4A=)
c.3857-4A= (n.3857-4A=)
c.3794-4A= (n.3794-4A=)
c.3638-4A= (n.3638-4A=)
c.3569-4A= (n.3569-4A=)
6g.33164969T>GCA1087647783COL11A2n.557-5A>C
c.4751-5A>C (n.4751-5A>C)
c.4430-5A>C (n.4430-5A>C)
c.4493-5A>C (n.4493-5A>C)
n.541-5A>C
c.3905-5A>C (n.3905-5A>C)
c.4037-5A>C (n.4037-5A>C)
c.3857-5A>C (n.3857-5A>C)
c.3794-5A>C (n.3794-5A>C)
c.3638-5A>C (n.3638-5A>C)
c.3569-5A>C (n.3569-5A>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164969T=CA1619890652COL11A2n.557-5A=
c.4751-5A= (n.4751-5A=)
c.4430-5A= (n.4430-5A=)
c.4493-5A= (n.4493-5A=)
n.541-5A=
c.3905-5A= (n.3905-5A=)
c.4037-5A= (n.4037-5A=)
c.3857-5A= (n.3857-5A=)
c.3794-5A= (n.3794-5A=)
c.3638-5A= (n.3638-5A=)
c.3569-5A= (n.3569-5A=)
6g.33164970G>ACA566425001COL11A2n.557-6C>T
c.4751-6C>T (n.4751-6C>T)
c.4430-6C>T (n.4430-6C>T)
c.4493-6C>T (n.4493-6C>T)
n.541-6C>T
c.3905-6C>T (n.3905-6C>T)
c.4037-6C>T (n.4037-6C>T)
c.3857-6C>T (n.3857-6C>T)
c.3794-6C>T (n.3794-6C>T)
c.3638-6C>T (n.3638-6C>T)
c.3569-6C>T (n.3569-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164970G=CA1619890654COL11A2n.557-6C=
c.4751-6C= (n.4751-6C=)
c.4430-6C= (n.4430-6C=)
c.4493-6C= (n.4493-6C=)
n.541-6C=
c.3905-6C= (n.3905-6C=)
c.4037-6C= (n.4037-6C=)
c.3857-6C= (n.3857-6C=)
c.3794-6C= (n.3794-6C=)
c.3638-6C= (n.3638-6C=)
c.3569-6C= (n.3569-6C=)
6g.33164970G>TCA2678226458COL11A2n.557-6C>A
c.4751-6C>A (n.4751-6C>A)
c.4430-6C>A (n.4430-6C>A)
c.4493-6C>A (n.4493-6C>A)
n.541-6C>A
c.3905-6C>A (n.3905-6C>A)
c.4037-6C>A (n.4037-6C>A)
c.3857-6C>A (n.3857-6C>A)
c.3794-6C>A (n.3794-6C>A)
c.3638-6C>A (n.3638-6C>A)
c.3569-6C>A (n.3569-6C>A)
 gnomAD v4
6g.33164971G>ACA137061761COL11A2n.557-7C>T
c.4751-7C>T (n.4751-7C>T)
c.4430-7C>T (n.4430-7C>T)
c.4493-7C>T (n.4493-7C>T)
n.541-7C>T
c.3905-7C>T (n.3905-7C>T)
c.4037-7C>T (n.4037-7C>T)
c.3857-7C>T (n.3857-7C>T)
c.3794-7C>T (n.3794-7C>T)
c.3638-7C>T (n.3638-7C>T)
c.3569-7C>T (n.3569-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164971G=CA1619890656COL11A2n.557-7C=
c.4751-7C= (n.4751-7C=)
c.4430-7C= (n.4430-7C=)
c.4493-7C= (n.4493-7C=)
n.541-7C=
c.3905-7C= (n.3905-7C=)
c.4037-7C= (n.4037-7C=)
c.3857-7C= (n.3857-7C=)
c.3794-7C= (n.3794-7C=)
c.3638-7C= (n.3638-7C=)
c.3569-7C= (n.3569-7C=)
6g.33164971G>TCA2678226467COL11A2n.557-7C>A
c.4751-7C>A (n.4751-7C>A)
c.4430-7C>A (n.4430-7C>A)
c.4493-7C>A (n.4493-7C>A)
n.541-7C>A
c.3905-7C>A (n.3905-7C>A)
c.4037-7C>A (n.4037-7C>A)
c.3857-7C>A (n.3857-7C>A)
c.3794-7C>A (n.3794-7C>A)
c.3638-7C>A (n.3638-7C>A)
c.3569-7C>A (n.3569-7C>A)
 gnomAD v4
6g.33164972G>ACA2678226472COL11A2n.557-8C>T
c.4751-8C>T (n.4751-8C>T)
c.4430-8C>T (n.4430-8C>T)
c.4493-8C>T (n.4493-8C>T)
n.541-8C>T
c.3905-8C>T (n.3905-8C>T)
c.4037-8C>T (n.4037-8C>T)
c.3857-8C>T (n.3857-8C>T)
c.3794-8C>T (n.3794-8C>T)
c.3638-8C>T (n.3638-8C>T)
c.3569-8C>T (n.3569-8C>T)
 gnomAD v4
6g.33164972G=CA1619890659COL11A2n.557-8C=
c.4751-8C= (n.4751-8C=)
c.4430-8C= (n.4430-8C=)
c.4493-8C= (n.4493-8C=)
n.541-8C=
c.3905-8C= (n.3905-8C=)
c.4037-8C= (n.4037-8C=)
c.3857-8C= (n.3857-8C=)
c.3794-8C= (n.3794-8C=)
c.3638-8C= (n.3638-8C=)
c.3569-8C= (n.3569-8C=)
6g.33164972G>TCA566425002COL11A2n.557-8C>A
c.4751-8C>A (n.4751-8C>A)
c.4430-8C>A (n.4430-8C>A)
c.4493-8C>A (n.4493-8C>A)
n.541-8C>A
c.3905-8C>A (n.3905-8C>A)
c.4037-8C>A (n.4037-8C>A)
c.3857-8C>A (n.3857-8C>A)
c.3794-8C>A (n.3794-8C>A)
c.3638-8C>A (n.3638-8C>A)
c.3569-8C>A (n.3569-8C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164973T>CCA3749999COL11A2n.557-9A>G
c.4751-9A>G (n.4751-9A>G)
c.4430-9A>G (n.4430-9A>G)
c.4493-9A>G (n.4493-9A>G)
n.541-9A>G
c.3905-9A>G (n.3905-9A>G)
c.4037-9A>G (n.4037-9A>G)
c.3857-9A>G (n.3857-9A>G)
c.3794-9A>G (n.3794-9A>G)
c.3638-9A>G (n.3638-9A>G)
c.3569-9A>G (n.3569-9A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164973T>GCA2739273024COL11A2n.557-9A>C
c.4751-9A>C (n.4751-9A>C)
c.4430-9A>C (n.4430-9A>C)
c.4493-9A>C (n.4493-9A>C)
n.541-9A>C
c.3905-9A>C (n.3905-9A>C)
c.4037-9A>C (n.4037-9A>C)
c.3857-9A>C (n.3857-9A>C)
c.3794-9A>C (n.3794-9A>C)
c.3638-9A>C (n.3638-9A>C)
c.3569-9A>C (n.3569-9A>C)
 ClinVar
6g.33164973T=CA1619890663COL11A2n.557-9A=
c.4751-9A= (n.4751-9A=)
c.4430-9A= (n.4430-9A=)
c.4493-9A= (n.4493-9A=)
n.541-9A=
c.3905-9A= (n.3905-9A=)
c.4037-9A= (n.4037-9A=)
c.3857-9A= (n.3857-9A=)
c.3794-9A= (n.3794-9A=)
c.3638-9A= (n.3638-9A=)
c.3569-9A= (n.3569-9A=)
6g.33164974G>TCA2678226477COL11A2n.557-10C>A
c.4751-10C>A (n.4751-10C>A)
c.4430-10C>A (n.4430-10C>A)
c.4493-10C>A (n.4493-10C>A)
n.541-10C>A
c.3905-10C>A (n.3905-10C>A)
c.4037-10C>A (n.4037-10C>A)
c.3857-10C>A (n.3857-10C>A)
c.3794-10C>A (n.3794-10C>A)
c.3638-10C>A (n.3638-10C>A)
c.3569-10C>A (n.3569-10C>A)
 gnomAD v4
6g.33164975A>GCA2678226479COL11A2n.557-11T>C
c.4751-11T>C (n.4751-11T>C)
c.4430-11T>C (n.4430-11T>C)
c.4493-11T>C (n.4493-11T>C)
n.541-11T>C
c.3905-11T>C (n.3905-11T>C)
c.4037-11T>C (n.4037-11T>C)
c.3857-11T>C (n.3857-11T>C)
c.3794-11T>C (n.3794-11T>C)
c.3638-11T>C (n.3638-11T>C)
c.3569-11T>C (n.3569-11T>C)
 gnomAD v4
6g.33164975A>TCA2678226480COL11A2n.557-11T>A
c.4751-11T>A (n.4751-11T>A)
c.4430-11T>A (n.4430-11T>A)
c.4493-11T>A (n.4493-11T>A)
n.541-11T>A
c.3905-11T>A (n.3905-11T>A)
c.4037-11T>A (n.4037-11T>A)
c.3857-11T>A (n.3857-11T>A)
c.3794-11T>A (n.3794-11T>A)
c.3638-11T>A (n.3638-11T>A)
c.3569-11T>A (n.3569-11T>A)
 gnomAD v4
6g.33164976G>ACA2678226481COL11A2n.557-12C>T
c.4751-12C>T (n.4751-12C>T)
c.4430-12C>T (n.4430-12C>T)
c.4493-12C>T (n.4493-12C>T)
n.541-12C>T
c.3905-12C>T (n.3905-12C>T)
c.4037-12C>T (n.4037-12C>T)
c.3857-12C>T (n.3857-12C>T)
c.3794-12C>T (n.3794-12C>T)
c.3638-12C>T (n.3638-12C>T)
c.3569-12C>T (n.3569-12C>T)
 gnomAD v4
6g.33164976G>CCA137061766COL11A2n.557-12C>G
c.4751-12C>G (n.4751-12C>G)
c.4430-12C>G (n.4430-12C>G)
c.4493-12C>G (n.4493-12C>G)
n.541-12C>G
c.3905-12C>G (n.3905-12C>G)
c.4037-12C>G (n.4037-12C>G)
c.3857-12C>G (n.3857-12C>G)
c.3794-12C>G (n.3794-12C>G)
c.3638-12C>G (n.3638-12C>G)
c.3569-12C>G (n.3569-12C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164976G=CA1619890671COL11A2n.557-12C=
c.4751-12C= (n.4751-12C=)
c.4430-12C= (n.4430-12C=)
c.4493-12C= (n.4493-12C=)
n.541-12C=
c.3905-12C= (n.3905-12C=)
c.4037-12C= (n.4037-12C=)
c.3857-12C= (n.3857-12C=)
c.3794-12C= (n.3794-12C=)
c.3638-12C= (n.3638-12C=)
c.3569-12C= (n.3569-12C=)
6g.33164976G>TCA2678226482COL11A2n.557-12C>A
c.4751-12C>A (n.4751-12C>A)
c.4430-12C>A (n.4430-12C>A)
c.4493-12C>A (n.4493-12C>A)
n.541-12C>A
c.3905-12C>A (n.3905-12C>A)
c.4037-12C>A (n.4037-12C>A)
c.3857-12C>A (n.3857-12C>A)
c.3794-12C>A (n.3794-12C>A)
c.3638-12C>A (n.3638-12C>A)
c.3569-12C>A (n.3569-12C>A)
 gnomAD v4
6g.33164977G>ACA566425003COL11A2n.557-13C>T
c.4751-13C>T (n.4751-13C>T)
c.4430-13C>T (n.4430-13C>T)
c.4493-13C>T (n.4493-13C>T)
n.541-13C>T
c.3905-13C>T (n.3905-13C>T)
c.4037-13C>T (n.4037-13C>T)
c.3857-13C>T (n.3857-13C>T)
c.3794-13C>T (n.3794-13C>T)
c.3638-13C>T (n.3638-13C>T)
c.3569-13C>T (n.3569-13C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.33164977G=CA1619890677COL11A2n.557-13C=
c.4751-13C= (n.4751-13C=)
c.4430-13C= (n.4430-13C=)
c.4493-13C= (n.4493-13C=)
n.541-13C=
c.3905-13C= (n.3905-13C=)
c.4037-13C= (n.4037-13C=)
c.3857-13C= (n.3857-13C=)
c.3794-13C= (n.3794-13C=)
c.3638-13C= (n.3638-13C=)
c.3569-13C= (n.3569-13C=)
6g.33164977G>TCA2678226488COL11A2n.557-13C>A
c.4751-13C>A (n.4751-13C>A)
c.4430-13C>A (n.4430-13C>A)
c.4493-13C>A (n.4493-13C>A)
n.541-13C>A
c.3905-13C>A (n.3905-13C>A)
c.4037-13C>A (n.4037-13C>A)
c.3857-13C>A (n.3857-13C>A)
c.3794-13C>A (n.3794-13C>A)
c.3638-13C>A (n.3638-13C>A)
c.3569-13C>A (n.3569-13C>A)
 gnomAD v4
6g.33164978G>ACA3750000COL11A2n.557-14C>T
c.4751-14C>T (n.4751-14C>T)
c.4430-14C>T (n.4430-14C>T)
c.4493-14C>T (n.4493-14C>T)
n.541-14C>T
c.3905-14C>T (n.3905-14C>T)
c.4037-14C>T (n.4037-14C>T)
c.3857-14C>T (n.3857-14C>T)
c.3794-14C>T (n.3794-14C>T)
c.3638-14C>T (n.3638-14C>T)
c.3569-14C>T (n.3569-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164978G>CCA2678226495COL11A2n.557-14C>G
c.4751-14C>G (n.4751-14C>G)
c.4430-14C>G (n.4430-14C>G)
c.4493-14C>G (n.4493-14C>G)
n.541-14C>G
c.3905-14C>G (n.3905-14C>G)
c.4037-14C>G (n.4037-14C>G)
c.3857-14C>G (n.3857-14C>G)
c.3794-14C>G (n.3794-14C>G)
c.3638-14C>G (n.3638-14C>G)
c.3569-14C>G (n.3569-14C>G)
 gnomAD v4
6g.33164978G=CA1619890680COL11A2n.557-14C=
c.4751-14C= (n.4751-14C=)
c.4430-14C= (n.4430-14C=)
c.4493-14C= (n.4493-14C=)
n.541-14C=
c.3905-14C= (n.3905-14C=)
c.4037-14C= (n.4037-14C=)
c.3857-14C= (n.3857-14C=)
c.3794-14C= (n.3794-14C=)
c.3638-14C= (n.3638-14C=)
c.3569-14C= (n.3569-14C=)
6g.33164978G>TCA2678226494COL11A2n.557-14C>A
c.4751-14C>A (n.4751-14C>A)
c.4430-14C>A (n.4430-14C>A)
c.4493-14C>A (n.4493-14C>A)
n.541-14C>A
c.3905-14C>A (n.3905-14C>A)
c.4037-14C>A (n.4037-14C>A)
c.3857-14C>A (n.3857-14C>A)
c.3794-14C>A (n.3794-14C>A)
c.3638-14C>A (n.3638-14C>A)
c.3569-14C>A (n.3569-14C>A)
 gnomAD v4
6g.33164979A=CA1619890682COL11A2n.557-15T=
c.4751-15T= (n.4751-15T=)
c.4430-15T= (n.4430-15T=)
c.4493-15T= (n.4493-15T=)
n.541-15T=
c.3905-15T= (n.3905-15T=)
c.4037-15T= (n.4037-15T=)
c.3857-15T= (n.3857-15T=)
c.3794-15T= (n.3794-15T=)
c.3638-15T= (n.3638-15T=)
c.3569-15T= (n.3569-15T=)
6g.33164979A>GCA2678226499COL11A2n.557-15T>C
c.4751-15T>C (n.4751-15T>C)
c.4430-15T>C (n.4430-15T>C)
c.4493-15T>C (n.4493-15T>C)
n.541-15T>C
c.3905-15T>C (n.3905-15T>C)
c.4037-15T>C (n.4037-15T>C)
c.3857-15T>C (n.3857-15T>C)
c.3794-15T>C (n.3794-15T>C)
c.3638-15T>C (n.3638-15T>C)
c.3569-15T>C (n.3569-15T>C)
 gnomAD v4
6g.33164980G>ACA566425004COL11A2n.557-16C>T
c.4751-16C>T (n.4751-16C>T)
c.4430-16C>T (n.4430-16C>T)
c.4493-16C>T (n.4493-16C>T)
n.541-16C>T
c.3905-16C>T (n.3905-16C>T)
c.4037-16C>T (n.4037-16C>T)
c.3857-16C>T (n.3857-16C>T)
c.3794-16C>T (n.3794-16C>T)
c.3638-16C>T (n.3638-16C>T)
c.3569-16C>T (n.3569-16C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164980G=CA1619890686COL11A2n.557-16C=
c.4751-16C= (n.4751-16C=)
c.4430-16C= (n.4430-16C=)
c.4493-16C= (n.4493-16C=)
n.541-16C=
c.3905-16C= (n.3905-16C=)
c.4037-16C= (n.4037-16C=)
c.3857-16C= (n.3857-16C=)
c.3794-16C= (n.3794-16C=)
c.3638-16C= (n.3638-16C=)
c.3569-16C= (n.3569-16C=)
6g.33164980G>TCA2678226502COL11A2n.557-16C>A
c.4751-16C>A (n.4751-16C>A)
c.4430-16C>A (n.4430-16C>A)
c.4493-16C>A (n.4493-16C>A)
n.541-16C>A
c.3905-16C>A (n.3905-16C>A)
c.4037-16C>A (n.4037-16C>A)
c.3857-16C>A (n.3857-16C>A)
c.3794-16C>A (n.3794-16C>A)
c.3638-16C>A (n.3638-16C>A)
c.3569-16C>A (n.3569-16C>A)
 gnomAD v4
6g.33164980dupCA137061777COL11A2n.557-16dup
c.4751-16dup (n.4751-16dup)
c.4430-16dup (n.4430-16dup)
c.4493-16dup (n.4493-16dup)
n.541-16dup
c.3905-16dup (n.3905-16dup)
c.4037-16dup (n.4037-16dup)
c.3857-16dup (n.3857-16dup)
c.3794-16dup (n.3794-16dup)
c.3638-16dup (n.3638-16dup)
c.3569-16dup (n.3569-16dup)
 dbSNP
6g.33164981delCA2578581111COL11A2n.557-17del
c.4751-17del (n.4751-17del)
c.4430-17del (n.4430-17del)
c.4493-17del (n.4493-17del)
n.541-17del
c.3905-17del (n.3905-17del)
c.4037-17del (n.4037-17del)
c.3857-17del (n.3857-17del)
c.3794-17del (n.3794-17del)
c.3638-17del (n.3638-17del)
c.3569-17del (n.3569-17del)
 gnomAD v4
6g.33164981A>GCA2678226510COL11A2n.557-17T>C
c.4751-17T>C (n.4751-17T>C)
c.4430-17T>C (n.4430-17T>C)
c.4493-17T>C (n.4493-17T>C)
n.541-17T>C
c.3905-17T>C (n.3905-17T>C)
c.4037-17T>C (n.4037-17T>C)
c.3857-17T>C (n.3857-17T>C)
c.3794-17T>C (n.3794-17T>C)
c.3638-17T>C (n.3638-17T>C)
c.3569-17T>C (n.3569-17T>C)
 gnomAD v4
6g.33164982G>ACA2678226515COL11A2n.557-18C>T
c.4751-18C>T (n.4751-18C>T)
c.4430-18C>T (n.4430-18C>T)
c.4493-18C>T (n.4493-18C>T)
n.541-18C>T
c.3905-18C>T (n.3905-18C>T)
c.4037-18C>T (n.4037-18C>T)
c.3857-18C>T (n.3857-18C>T)
c.3794-18C>T (n.3794-18C>T)
c.3638-18C>T (n.3638-18C>T)
c.3569-18C>T (n.3569-18C>T)
 gnomAD v4
6g.33164982G>CCA2578581112COL11A2n.557-18C>G
c.4751-18C>G (n.4751-18C>G)
c.4430-18C>G (n.4430-18C>G)
c.4493-18C>G (n.4493-18C>G)
n.541-18C>G
c.3905-18C>G (n.3905-18C>G)
c.4037-18C>G (n.4037-18C>G)
c.3857-18C>G (n.3857-18C>G)
c.3794-18C>G (n.3794-18C>G)
c.3638-18C>G (n.3638-18C>G)
c.3569-18C>G (n.3569-18C>G)
6g.33164982G=CA1619890689COL11A2n.557-18C=
c.4751-18C= (n.4751-18C=)
c.4430-18C= (n.4430-18C=)
c.4493-18C= (n.4493-18C=)
n.541-18C=
c.3905-18C= (n.3905-18C=)
c.4037-18C= (n.4037-18C=)
c.3857-18C= (n.3857-18C=)
c.3794-18C= (n.3794-18C=)
c.3638-18C= (n.3638-18C=)
c.3569-18C= (n.3569-18C=)
6g.33164982G>TCA1619890691COL11A2n.557-18C>A
c.4751-18C>A (n.4751-18C>A)
c.4430-18C>A (n.4430-18C>A)
c.4493-18C>A (n.4493-18C>A)
n.541-18C>A
c.3905-18C>A (n.3905-18C>A)
c.4037-18C>A (n.4037-18C>A)
c.3857-18C>A (n.3857-18C>A)
c.3794-18C>A (n.3794-18C>A)
c.3638-18C>A (n.3638-18C>A)
c.3569-18C>A (n.3569-18C>A)
 dbSNP gnomAD v4
6g.33164983G>CCA2678226521COL11A2n.557-19C>G
c.4751-19C>G (n.4751-19C>G)
c.4430-19C>G (n.4430-19C>G)
c.4493-19C>G (n.4493-19C>G)
n.541-19C>G
c.3905-19C>G (n.3905-19C>G)
c.4037-19C>G (n.4037-19C>G)
c.3857-19C>G (n.3857-19C>G)
c.3794-19C>G (n.3794-19C>G)
c.3638-19C>G (n.3638-19C>G)
c.3569-19C>G (n.3569-19C>G)
 gnomAD v4
6g.33164983G>TCA2678226518COL11A2n.557-19C>A
c.4751-19C>A (n.4751-19C>A)
c.4430-19C>A (n.4430-19C>A)
c.4493-19C>A (n.4493-19C>A)
n.541-19C>A
c.3905-19C>A (n.3905-19C>A)
c.4037-19C>A (n.4037-19C>A)
c.3857-19C>A (n.3857-19C>A)
c.3794-19C>A (n.3794-19C>A)
c.3638-19C>A (n.3638-19C>A)
c.3569-19C>A (n.3569-19C>A)
 gnomAD v4
6g.33164984G>ACA2678226524COL11A2n.557-20C>T
c.4751-20C>T (n.4751-20C>T)
c.4430-20C>T (n.4430-20C>T)
c.4493-20C>T (n.4493-20C>T)
n.541-20C>T
c.3905-20C>T (n.3905-20C>T)
c.4037-20C>T (n.4037-20C>T)
c.3857-20C>T (n.3857-20C>T)
c.3794-20C>T (n.3794-20C>T)
c.3638-20C>T (n.3638-20C>T)
c.3569-20C>T (n.3569-20C>T)
 gnomAD v4
6g.33164984G>TCA2678226525COL11A2n.557-20C>A
c.4751-20C>A (n.4751-20C>A)
c.4430-20C>A (n.4430-20C>A)
c.4493-20C>A (n.4493-20C>A)
n.541-20C>A
c.3905-20C>A (n.3905-20C>A)
c.4037-20C>A (n.4037-20C>A)
c.3857-20C>A (n.3857-20C>A)
c.3794-20C>A (n.3794-20C>A)
c.3638-20C>A (n.3638-20C>A)
c.3569-20C>A (n.3569-20C>A)
 gnomAD v4
6g.33164985G>ACA3750001COL11A2n.557-21C>T
c.4751-21C>T (n.4751-21C>T)
c.4430-21C>T (n.4430-21C>T)
c.4493-21C>T (n.4493-21C>T)
n.541-21C>T
c.3905-21C>T (n.3905-21C>T)
c.4037-21C>T (n.4037-21C>T)
c.3857-21C>T (n.3857-21C>T)
c.3794-21C>T (n.3794-21C>T)
c.3638-21C>T (n.3638-21C>T)
c.3569-21C>T (n.3569-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164985G=CA1619890692COL11A2n.557-21C=
c.4751-21C= (n.4751-21C=)
c.4430-21C= (n.4430-21C=)
c.4493-21C= (n.4493-21C=)
n.541-21C=
c.3905-21C= (n.3905-21C=)
c.4037-21C= (n.4037-21C=)
c.3857-21C= (n.3857-21C=)
c.3794-21C= (n.3794-21C=)
c.3638-21C= (n.3638-21C=)
c.3569-21C= (n.3569-21C=)
6g.33164986A>CCA2539539469COL11A2n.557-22T>G
c.4751-22T>G (n.4751-22T>G)
c.4430-22T>G (n.4430-22T>G)
c.4493-22T>G (n.4493-22T>G)
n.541-22T>G
c.3905-22T>G (n.3905-22T>G)
c.4037-22T>G (n.4037-22T>G)
c.3857-22T>G (n.3857-22T>G)
c.3794-22T>G (n.3794-22T>G)
c.3638-22T>G (n.3638-22T>G)
c.3569-22T>G (n.3569-22T>G)
6g.33164987G>ACA566425005COL11A2n.557-23C>T
c.4751-23C>T (n.4751-23C>T)
c.4430-23C>T (n.4430-23C>T)
c.4493-23C>T (n.4493-23C>T)
n.541-23C>T
c.3905-23C>T (n.3905-23C>T)
c.4037-23C>T (n.4037-23C>T)
c.3857-23C>T (n.3857-23C>T)
c.3794-23C>T (n.3794-23C>T)
c.3638-23C>T (n.3638-23C>T)
c.3569-23C>T (n.3569-23C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164987G=CA1619890694COL11A2n.557-23C=
c.4751-23C= (n.4751-23C=)
c.4430-23C= (n.4430-23C=)
c.4493-23C= (n.4493-23C=)
n.541-23C=
c.3905-23C= (n.3905-23C=)
c.4037-23C= (n.4037-23C=)
c.3857-23C= (n.3857-23C=)
c.3794-23C= (n.3794-23C=)
c.3638-23C= (n.3638-23C=)
c.3569-23C= (n.3569-23C=)
6g.33164987G>TCA2678226530COL11A2n.557-23C>A
c.4751-23C>A (n.4751-23C>A)
c.4430-23C>A (n.4430-23C>A)
c.4493-23C>A (n.4493-23C>A)
n.541-23C>A
c.3905-23C>A (n.3905-23C>A)
c.4037-23C>A (n.4037-23C>A)
c.3857-23C>A (n.3857-23C>A)
c.3794-23C>A (n.3794-23C>A)
c.3638-23C>A (n.3638-23C>A)
c.3569-23C>A (n.3569-23C>A)
 gnomAD v4
6g.33164988G>ACA3750002COL11A2n.557-24C>T
c.4751-24C>T (n.4751-24C>T)
c.4430-24C>T (n.4430-24C>T)
c.4493-24C>T (n.4493-24C>T)
n.541-24C>T
c.3905-24C>T (n.3905-24C>T)
c.4037-24C>T (n.4037-24C>T)
c.3857-24C>T (n.3857-24C>T)
c.3794-24C>T (n.3794-24C>T)
c.3638-24C>T (n.3638-24C>T)
c.3569-24C>T (n.3569-24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164988G=CA1619890696COL11A2n.557-24C=
c.4751-24C= (n.4751-24C=)
c.4430-24C= (n.4430-24C=)
c.4493-24C= (n.4493-24C=)
n.541-24C=
c.3905-24C= (n.3905-24C=)
c.4037-24C= (n.4037-24C=)
c.3857-24C= (n.3857-24C=)
c.3794-24C= (n.3794-24C=)
c.3638-24C= (n.3638-24C=)
c.3569-24C= (n.3569-24C=)
6g.33164990C>TCA2678226533COL11A2n.557-26G>A
c.4751-26G>A (n.4751-26G>A)
c.4430-26G>A (n.4430-26G>A)
c.4493-26G>A (n.4493-26G>A)
n.541-26G>A
c.3905-26G>A (n.3905-26G>A)
c.4037-26G>A (n.4037-26G>A)
c.3857-26G>A (n.3857-26G>A)
c.3794-26G>A (n.3794-26G>A)
c.3638-26G>A (n.3638-26G>A)
c.3569-26G>A (n.3569-26G>A)
 gnomAD v4
6g.33164991delCA2578581113COL11A2n.557-27del
c.4751-27del (n.4751-27del)
c.4430-27del (n.4430-27del)
c.4493-27del (n.4493-27del)
n.541-27del
c.3905-27del (n.3905-27del)
c.4037-27del (n.4037-27del)
c.3857-27del (n.3857-27del)
c.3794-27del (n.3794-27del)
c.3638-27del (n.3638-27del)
c.3569-27del (n.3569-27del)
6g.33164991A>GCA2678226534COL11A2n.557-27T>C
c.4751-27T>C (n.4751-27T>C)
c.4430-27T>C (n.4430-27T>C)
c.4493-27T>C (n.4493-27T>C)
n.541-27T>C
c.3905-27T>C (n.3905-27T>C)
c.4037-27T>C (n.4037-27T>C)
c.3857-27T>C (n.3857-27T>C)
c.3794-27T>C (n.3794-27T>C)
c.3638-27T>C (n.3638-27T>C)
c.3569-27T>C (n.3569-27T>C)
 gnomAD v4
6g.33164992G>CCA3750003COL11A2n.557-28C>G
c.4751-28C>G (n.4751-28C>G)
c.4430-28C>G (n.4430-28C>G)
c.4493-28C>G (n.4493-28C>G)
n.541-28C>G
c.3905-28C>G (n.3905-28C>G)
c.4037-28C>G (n.4037-28C>G)
c.3857-28C>G (n.3857-28C>G)
c.3794-28C>G (n.3794-28C>G)
c.3638-28C>G (n.3638-28C>G)
c.3569-28C>G (n.3569-28C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164992G=CA1619890700COL11A2n.557-28C=
c.4751-28C= (n.4751-28C=)
c.4430-28C= (n.4430-28C=)
c.4493-28C= (n.4493-28C=)
n.541-28C=
c.3905-28C= (n.3905-28C=)
c.4037-28C= (n.4037-28C=)
c.3857-28C= (n.3857-28C=)
c.3794-28C= (n.3794-28C=)
c.3638-28C= (n.3638-28C=)
c.3569-28C= (n.3569-28C=)
6g.33164993G>ACA2578581114COL11A2n.557-29C>T
c.4751-29C>T (n.4751-29C>T)
c.4430-29C>T (n.4430-29C>T)
c.4493-29C>T (n.4493-29C>T)
n.541-29C>T
c.3905-29C>T (n.3905-29C>T)
c.4037-29C>T (n.4037-29C>T)
c.3857-29C>T (n.3857-29C>T)
c.3794-29C>T (n.3794-29C>T)
c.3638-29C>T (n.3638-29C>T)
c.3569-29C>T (n.3569-29C>T)
6g.33164994G>ACA2678226538COL11A2n.557-30C>T
c.4751-30C>T (n.4751-30C>T)
c.4430-30C>T (n.4430-30C>T)
c.4493-30C>T (n.4493-30C>T)
n.541-30C>T
c.3905-30C>T (n.3905-30C>T)
c.4037-30C>T (n.4037-30C>T)
c.3857-30C>T (n.3857-30C>T)
c.3794-30C>T (n.3794-30C>T)
c.3638-30C>T (n.3638-30C>T)
c.3569-30C>T (n.3569-30C>T)
 gnomAD v4
6g.33164995C>ACA2678226539COL11A2n.557-31G>T
c.4751-31G>T (n.4751-31G>T)
c.4430-31G>T (n.4430-31G>T)
c.4493-31G>T (n.4493-31G>T)
n.541-31G>T
c.3905-31G>T (n.3905-31G>T)
c.4037-31G>T (n.4037-31G>T)
c.3857-31G>T (n.3857-31G>T)
c.3794-31G>T (n.3794-31G>T)
c.3638-31G>T (n.3638-31G>T)
c.3569-31G>T (n.3569-31G>T)
 gnomAD v4
6g.33164995C=CA1619890703COL11A2n.557-31G=
c.4751-31G= (n.4751-31G=)
c.4430-31G= (n.4430-31G=)
c.4493-31G= (n.4493-31G=)
n.541-31G=
c.3905-31G= (n.3905-31G=)
c.4037-31G= (n.4037-31G=)
c.3857-31G= (n.3857-31G=)
c.3794-31G= (n.3794-31G=)
c.3638-31G= (n.3638-31G=)
c.3569-31G= (n.3569-31G=)
6g.33164995C>TCA566425006COL11A2n.557-31G>A
c.4751-31G>A (n.4751-31G>A)
c.4430-31G>A (n.4430-31G>A)
c.4493-31G>A (n.4493-31G>A)
n.541-31G>A
c.3905-31G>A (n.3905-31G>A)
c.4037-31G>A (n.4037-31G>A)
c.3857-31G>A (n.3857-31G>A)
c.3794-31G>A (n.3794-31G>A)
c.3638-31G>A (n.3638-31G>A)
c.3569-31G>A (n.3569-31G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.33164996C>ACA2578581115COL11A2n.557-32G>T
c.4751-32G>T (n.4751-32G>T)
c.4430-32G>T (n.4430-32G>T)
c.4493-32G>T (n.4493-32G>T)
n.541-32G>T
c.3905-32G>T (n.3905-32G>T)
c.4037-32G>T (n.4037-32G>T)
c.3857-32G>T (n.3857-32G>T)
c.3794-32G>T (n.3794-32G>T)
c.3638-32G>T (n.3638-32G>T)
c.3569-32G>T (n.3569-32G>T)
6g.33164996C>TCA2578581116COL11A2n.557-32G>A
c.4751-32G>A (n.4751-32G>A)
c.4430-32G>A (n.4430-32G>A)
c.4493-32G>A (n.4493-32G>A)
n.541-32G>A
c.3905-32G>A (n.3905-32G>A)
c.4037-32G>A (n.4037-32G>A)
c.3857-32G>A (n.3857-32G>A)
c.3794-32G>A (n.3794-32G>A)
c.3638-32G>A (n.3638-32G>A)
c.3569-32G>A (n.3569-32G>A)
6g.33164998C>TCA2678226540COL11A2n.557-34G>A
c.4751-34G>A (n.4751-34G>A)
c.4430-34G>A (n.4430-34G>A)
c.4493-34G>A (n.4493-34G>A)
n.541-34G>A
c.3905-34G>A (n.3905-34G>A)
c.4037-34G>A (n.4037-34G>A)
c.3857-34G>A (n.3857-34G>A)
c.3794-34G>A (n.3794-34G>A)
c.3638-34G>A (n.3638-34G>A)
c.3569-34G>A (n.3569-34G>A)
 gnomAD v4
6g.33165000T>CCA2678226542COL11A2n.557-36A>G
c.4751-36A>G (n.4751-36A>G)
c.4430-36A>G (n.4430-36A>G)
c.4493-36A>G (n.4493-36A>G)
n.541-36A>G
c.3905-36A>G (n.3905-36A>G)
c.4037-36A>G (n.4037-36A>G)
c.3857-36A>G (n.3857-36A>G)
c.3794-36A>G (n.3794-36A>G)
c.3638-36A>G (n.3638-36A>G)
c.3569-36A>G (n.3569-36A>G)
 gnomAD v4
6g.33165000T>GCA137061792COL11A2n.557-36A>C
c.4751-36A>C (n.4751-36A>C)
c.4430-36A>C (n.4430-36A>C)
c.4493-36A>C (n.4493-36A>C)
n.541-36A>C
c.3905-36A>C (n.3905-36A>C)
c.4037-36A>C (n.4037-36A>C)
c.3857-36A>C (n.3857-36A>C)
c.3794-36A>C (n.3794-36A>C)
c.3638-36A>C (n.3638-36A>C)
c.3569-36A>C (n.3569-36A>C)
 dbSNP gnomAD v4
6g.33165000T=CA1619890705COL11A2n.557-36A=
c.4751-36A= (n.4751-36A=)
c.4430-36A= (n.4430-36A=)
c.4493-36A= (n.4493-36A=)
n.541-36A=
c.3905-36A= (n.3905-36A=)
c.4037-36A= (n.4037-36A=)
c.3857-36A= (n.3857-36A=)
c.3794-36A= (n.3794-36A=)
c.3638-36A= (n.3638-36A=)
c.3569-36A= (n.3569-36A=)
6g.33165001A>GCA2555606163COL11A2n.557-37T>C
c.4751-37T>C (n.4751-37T>C)
c.4430-37T>C (n.4430-37T>C)
c.4493-37T>C (n.4493-37T>C)
n.541-37T>C
c.3905-37T>C (n.3905-37T>C)
c.4037-37T>C (n.4037-37T>C)
c.3857-37T>C (n.3857-37T>C)
c.3794-37T>C (n.3794-37T>C)
c.3638-37T>C (n.3638-37T>C)
c.3569-37T>C (n.3569-37T>C)
 gnomAD v4
6g.33165002G>CCA137061795COL11A2n.557-38C>G
c.4751-38C>G (n.4751-38C>G)
c.4430-38C>G (n.4430-38C>G)
c.4493-38C>G (n.4493-38C>G)
n.541-38C>G
c.3905-38C>G (n.3905-38C>G)
c.4037-38C>G (n.4037-38C>G)
c.3857-38C>G (n.3857-38C>G)
c.3794-38C>G (n.3794-38C>G)
c.3638-38C>G (n.3638-38C>G)
c.3569-38C>G (n.3569-38C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33165002G=CA1619890708COL11A2n.557-38C=
c.4751-38C= (n.4751-38C=)
c.4430-38C= (n.4430-38C=)
c.4493-38C= (n.4493-38C=)
n.541-38C=
c.3905-38C= (n.3905-38C=)
c.4037-38C= (n.4037-38C=)
c.3857-38C= (n.3857-38C=)
c.3794-38C= (n.3794-38C=)
c.3638-38C= (n.3638-38C=)
c.3569-38C= (n.3569-38C=)
6g.33165002G>TCA566425008COL11A2n.557-38C>A
c.4751-38C>A (n.4751-38C>A)
c.4430-38C>A (n.4430-38C>A)
c.4493-38C>A (n.4493-38C>A)
n.541-38C>A
c.3905-38C>A (n.3905-38C>A)
c.4037-38C>A (n.4037-38C>A)
c.3857-38C>A (n.3857-38C>A)
c.3794-38C>A (n.3794-38C>A)
c.3638-38C>A (n.3638-38C>A)
c.3569-38C>A (n.3569-38C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.33165003G>ACA2678226547COL11A2n.557-39C>T
c.4751-39C>T (n.4751-39C>T)
c.4430-39C>T (n.4430-39C>T)
c.4493-39C>T (n.4493-39C>T)
n.541-39C>T
c.3905-39C>T (n.3905-39C>T)
c.4037-39C>T (n.4037-39C>T)
c.3857-39C>T (n.3857-39C>T)
c.3794-39C>T (n.3794-39C>T)
c.3638-39C>T (n.3638-39C>T)
c.3569-39C>T (n.3569-39C>T)
 gnomAD v4
6g.33165003G=CA1619890713COL11A2n.557-39C=
c.4751-39C= (n.4751-39C=)
c.4430-39C= (n.4430-39C=)
c.4493-39C= (n.4493-39C=)
n.541-39C=
c.3905-39C= (n.3905-39C=)
c.4037-39C= (n.4037-39C=)
c.3857-39C= (n.3857-39C=)
c.3794-39C= (n.3794-39C=)
c.3638-39C= (n.3638-39C=)
c.3569-39C= (n.3569-39C=)
6g.33165003G>TCA1619890711COL11A2n.557-39C>A
c.4751-39C>A (n.4751-39C>A)
c.4430-39C>A (n.4430-39C>A)
c.4493-39C>A (n.4493-39C>A)
n.541-39C>A
c.3905-39C>A (n.3905-39C>A)
c.4037-39C>A (n.4037-39C>A)
c.3857-39C>A (n.3857-39C>A)
c.3794-39C>A (n.3794-39C>A)
c.3638-39C>A (n.3638-39C>A)
c.3569-39C>A (n.3569-39C>A)
 dbSNP gnomAD v4
6g.33165004T>GCA2678226550COL11A2n.557-40A>C
c.4751-40A>C (n.4751-40A>C)
c.4430-40A>C (n.4430-40A>C)
c.4493-40A>C (n.4493-40A>C)
n.541-40A>C
c.3905-40A>C (n.3905-40A>C)
c.4037-40A>C (n.4037-40A>C)
c.3857-40A>C (n.3857-40A>C)
c.3794-40A>C (n.3794-40A>C)
c.3638-40A>C (n.3638-40A>C)
c.3569-40A>C (n.3569-40A>C)
 gnomAD v4
6g.33165005C>ACA2578581117COL11A2n.557-41G>T
c.4751-41G>T (n.4751-41G>T)
c.4430-41G>T (n.4430-41G>T)
c.4493-41G>T (n.4493-41G>T)
n.541-41G>T
c.3905-41G>T (n.3905-41G>T)
c.4037-41G>T (n.4037-41G>T)
c.3857-41G>T (n.3857-41G>T)
c.3794-41G>T (n.3794-41G>T)
c.3638-41G>T (n.3638-41G>T)
c.3569-41G>T (n.3569-41G>T)
6g.33165006delCA2678226552COL11A2n.557-41del
c.4751-41del (n.4751-41del)
c.4430-41del (n.4430-41del)
c.4493-41del (n.4493-41del)
n.541-41del
c.3905-41del (n.3905-41del)
c.4037-41del (n.4037-41del)
c.3857-41del (n.3857-41del)
c.3794-41del (n.3794-41del)
c.3638-41del (n.3638-41del)
c.3569-41del (n.3569-41del)
 gnomAD v4
6g.33165006C=CA1619890716COL11A2n.557-42G=
c.4751-42G= (n.4751-42G=)
c.4430-42G= (n.4430-42G=)
c.4493-42G= (n.4493-42G=)
n.541-42G=
c.3905-42G= (n.3905-42G=)
c.4037-42G= (n.4037-42G=)
c.3857-42G= (n.3857-42G=)
c.3794-42G= (n.3794-42G=)
c.3638-42G= (n.3638-42G=)
c.3569-42G= (n.3569-42G=)
6g.33165006C>TCA3750004COL11A2n.557-42G>A
c.4751-42G>A (n.4751-42G>A)
c.4430-42G>A (n.4430-42G>A)
c.4493-42G>A (n.4493-42G>A)
n.541-42G>A
c.3905-42G>A (n.3905-42G>A)
c.4037-42G>A (n.4037-42G>A)
c.3857-42G>A (n.3857-42G>A)
c.3794-42G>A (n.3794-42G>A)
c.3638-42G>A (n.3638-42G>A)
c.3569-42G>A (n.3569-42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched