Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50185791_50185799delCA2695226436COL1A1c.4229_4237del (p.Val1410_Val1412del)
c.3959_3967del (p.Val1320_Val1322del)
c.3311_3319del (p.Val1104_Val1106del)
c.4031_4039del (p.Val1344_Val1346del)
17g.50185795T>ACA400191334COL1A1c.4231A>T (p.Thr1411Ser)
c.3961A>T (p.Thr1321Ser)
c.3313A>T (p.Thr1105Ser)
c.4033A>T (p.Thr1345Ser)
17g.50185795T>CCA400191328COL1A1c.4231A>G (p.Thr1411Ala)
c.3961A>G (p.Thr1321Ala)
c.3313A>G (p.Thr1105Ala)
c.4033A>G (p.Thr1345Ala)
17g.50185795T>GCA400191323COL1A1c.4231A>C (p.Thr1411Pro)
c.3961A>C (p.Thr1321Pro)
c.3313A>C (p.Thr1105Pro)
c.4033A>C (p.Thr1345Pro)
17g.50185796G>ACA500991527COL1A1c.4230C>T (p.Val1410=)
c.3960C>T (p.Val1320=)
c.3312C>T (p.Val1104=)
c.4032C>T (p.Val1344=)
 gnomAD v4
17g.50185796G>CCA500991526COL1A1c.4230C>G (p.Val1410=)
c.3960C>G (p.Val1320=)
c.3312C>G (p.Val1104=)
c.4032C>G (p.Val1344=)
17g.50185796G>TCA500991528COL1A1c.4230C>A (p.Val1410=)
c.3960C>A (p.Val1320=)
c.3312C>A (p.Val1104=)
c.4032C>A (p.Val1344=)
17g.50185797A>CCA400191336COL1A1c.4229T>G (p.Val1410Gly)
c.3959T>G (p.Val1320Gly)
c.3311T>G (p.Val1104Gly)
c.4031T>G (p.Val1344Gly)
17g.50185797A>GCA400191345COL1A1c.4229T>C (p.Val1410Ala)
c.3959T>C (p.Val1320Ala)
c.3311T>C (p.Val1104Ala)
c.4031T>C (p.Val1344Ala)
17g.50185797A>TCA400191342COL1A1c.4229T>A (p.Val1410Asp)
c.3959T>A (p.Val1320Asp)
c.3311T>A (p.Val1104Asp)
c.4031T>A (p.Val1344Asp)
17g.50185798C>ACA400191350COL1A1c.4228G>T (p.Val1410Phe)
c.3958G>T (p.Val1320Phe)
c.3310G>T (p.Val1104Phe)
c.4030G>T (p.Val1344Phe)
17g.50185798C=CA2263913854COL1A1c.4228G= (p.Val1410=)
c.3958G= (p.Val1320=)
c.3310G= (p.Val1104=)
c.4030G= (p.Val1344=)
17g.50185798C>GCA400191355COL1A1c.4228G>C (p.Val1410Leu)
c.3958G>C (p.Val1320Leu)
c.3310G>C (p.Val1104Leu)
c.4030G>C (p.Val1344Leu)
 gnomAD v4
17g.50185798C>TCA8644223COL1A1c.4228G>A (p.Val1410Ile)
c.3958G>A (p.Val1320Ile)
c.3310G>A (p.Val1104Ile)
c.4030G>A (p.Val1344Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185799G>ACA8644224COL1A1c.4227C>T (p.Ser1409=)
c.3957C>T (p.Ser1319=)
c.3309C>T (p.Ser1103=)
c.4029C>T (p.Ser1343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185799G>CCA400191366COL1A1c.4227C>G (p.Ser1409Arg)
c.3957C>G (p.Ser1319Arg)
c.3309C>G (p.Ser1103Arg)
c.4029C>G (p.Ser1343Arg)
17g.50185799G=CA2263913855COL1A1c.4227C= (p.Ser1409=)
c.3957C= (p.Ser1319=)
c.3309C= (p.Ser1103=)
c.4029C= (p.Ser1343=)
17g.50185799G>TCA400191370COL1A1c.4227C>A (p.Ser1409Arg)
c.3957C>A (p.Ser1319Arg)
c.3309C>A (p.Ser1103Arg)
c.4029C>A (p.Ser1343Arg)
17g.50185800C>ACA400191382COL1A1c.4226G>T (p.Ser1409Ile)
c.3956G>T (p.Ser1319Ile)
c.3308G>T (p.Ser1103Ile)
c.4028G>T (p.Ser1343Ile)
 ClinVar dbSNP gnomAD v4
17g.50185800C=CA2263913856COL1A1c.4226G= (p.Ser1409=)
c.3956G= (p.Ser1319=)
c.3308G= (p.Ser1103=)
c.4028G= (p.Ser1343=)
17g.50185800C>GCA400191386COL1A1c.4226G>C (p.Ser1409Thr)
c.3956G>C (p.Ser1319Thr)
c.3308G>C (p.Ser1103Thr)
c.4028G>C (p.Ser1343Thr)
17g.50185800C>TCA400191390COL1A1c.4226G>A (p.Ser1409Asn)
c.3956G>A (p.Ser1319Asn)
c.3308G>A (p.Ser1103Asn)
c.4028G>A (p.Ser1343Asn)
 gnomAD v4
17g.50185801T>ACA400191395COL1A1c.4225A>T (p.Ser1409Cys)
c.3955A>T (p.Ser1319Cys)
c.3307A>T (p.Ser1103Cys)
c.4027A>T (p.Ser1343Cys)
17g.50185801T>CCA400191399COL1A1c.4225A>G (p.Ser1409Gly)
c.3955A>G (p.Ser1319Gly)
c.3307A>G (p.Ser1103Gly)
c.4027A>G (p.Ser1343Gly)
 dbSNP gnomAD v4
17g.50185801T>GCA400191402COL1A1c.4225A>C (p.Ser1409Arg)
c.3955A>C (p.Ser1319Arg)
c.3307A>C (p.Ser1103Arg)
c.4027A>C (p.Ser1343Arg)
17g.50185801T=CA2263913857COL1A1c.4225A= (p.Ser1409=)
c.3955A= (p.Ser1319=)
c.3307A= (p.Ser1103=)
c.4027A= (p.Ser1343=)
17g.50185802G>ACA8644225COL1A1c.4224C>T (p.Tyr1408=)
c.3954C>T (p.Tyr1318=)
c.3306C>T (p.Tyr1102=)
c.4026C>T (p.Tyr1342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185802G>CCA400191405COL1A1c.4224C>G (p.Tyr1408Ter)
c.3954C>G (p.Tyr1318Ter)
c.3306C>G (p.Tyr1102Ter)
c.4026C>G (p.Tyr1342Ter)
17g.50185802G=CA2263913858COL1A1c.4224C= (p.Tyr1408=)
c.3954C= (p.Tyr1318=)
c.3306C= (p.Tyr1102=)
c.4026C= (p.Tyr1342=)
17g.50185802G>TCA400191409COL1A1c.4224C>A (p.Tyr1408Ter)
c.3954C>A (p.Tyr1318Ter)
c.3306C>A (p.Tyr1102Ter)
c.4026C>A (p.Tyr1342Ter)
17g.50185803T>ACA400191420COL1A1c.4223A>T (p.Tyr1408Phe)
c.3953A>T (p.Tyr1318Phe)
c.3305A>T (p.Tyr1102Phe)
c.4025A>T (p.Tyr1342Phe)
17g.50185803T>CCA400191423COL1A1c.4223A>G (p.Tyr1408Cys)
c.3953A>G (p.Tyr1318Cys)
c.3305A>G (p.Tyr1102Cys)
c.4025A>G (p.Tyr1342Cys)
17g.50185803T>GCA400191426COL1A1c.4223A>C (p.Tyr1408Ser)
c.3953A>C (p.Tyr1318Ser)
c.3305A>C (p.Tyr1102Ser)
c.4025A>C (p.Tyr1342Ser)
17g.50185804A>CCA400191432COL1A1c.4222T>G (p.Tyr1408Asp)
c.3952T>G (p.Tyr1318Asp)
c.3304T>G (p.Tyr1102Asp)
c.4024T>G (p.Tyr1342Asp)
17g.50185804A>GCA400191435COL1A1c.4222T>C (p.Tyr1408His)
c.3952T>C (p.Tyr1318His)
c.3304T>C (p.Tyr1102His)
c.4024T>C (p.Tyr1342His)
17g.50185804A>TCA400191437COL1A1c.4222T>A (p.Tyr1408Asn)
c.3952T>A (p.Tyr1318Asn)
c.3304T>A (p.Tyr1102Asn)
c.4024T>A (p.Tyr1342Asn)
17g.50185805G>ACA500991531COL1A1c.4221C>T (p.Thr1407=)
c.3951C>T (p.Thr1317=)
c.3303C>T (p.Thr1101=)
c.4023C>T (p.Thr1341=)
17g.50185805G>CCA500991532COL1A1c.4221C>G (p.Thr1407=)
c.3951C>G (p.Thr1317=)
c.3303C>G (p.Thr1101=)
c.4023C>G (p.Thr1341=)
17g.50185805G>TCA500991533COL1A1c.4221C>A (p.Thr1407=)
c.3951C>A (p.Thr1317=)
c.3303C>A (p.Thr1101=)
c.4023C>A (p.Thr1341=)
17g.50185806G>ACA400191442COL1A1c.4220C>T (p.Thr1407Ile)
c.3950C>T (p.Thr1317Ile)
c.3302C>T (p.Thr1101Ile)
c.4022C>T (p.Thr1341Ile)
17g.50185806G>CCA400191445COL1A1c.4220C>G (p.Thr1407Ser)
c.3950C>G (p.Thr1317Ser)
c.3302C>G (p.Thr1101Ser)
c.4022C>G (p.Thr1341Ser)
17g.50185806G>TCA400191449COL1A1c.4220C>A (p.Thr1407Asn)
c.3950C>A (p.Thr1317Asn)
c.3302C>A (p.Thr1101Asn)
c.4022C>A (p.Thr1341Asn)
17g.50185807T>ACA400191460COL1A1c.4219A>T (p.Thr1407Ser)
c.3949A>T (p.Thr1317Ser)
c.3301A>T (p.Thr1101Ser)
c.4021A>T (p.Thr1341Ser)
17g.50185807T>CCA400191463COL1A1c.4219A>G (p.Thr1407Ala)
c.3949A>G (p.Thr1317Ala)
c.3301A>G (p.Thr1101Ala)
c.4021A>G (p.Thr1341Ala)
 gnomAD v4
17g.50185807T>GCA400191466COL1A1c.4219A>C (p.Thr1407Pro)
c.3949A>C (p.Thr1317Pro)
c.3301A>C (p.Thr1101Pro)
c.4021A>C (p.Thr1341Pro)
17g.50185808G>ACA500991537COL1A1c.4218C>T (p.Phe1406=)
c.3948C>T (p.Phe1316=)
c.3300C>T (p.Phe1100=)
c.4020C>T (p.Phe1340=)
 gnomAD v4
17g.50185808G>CCA400191472COL1A1c.4218C>G (p.Phe1406Leu)
c.3948C>G (p.Phe1316Leu)
c.3300C>G (p.Phe1100Leu)
c.4020C>G (p.Phe1340Leu)
17g.50185808G>TCA400191475COL1A1c.4218C>A (p.Phe1406Leu)
c.3948C>A (p.Phe1316Leu)
c.3300C>A (p.Phe1100Leu)
c.4020C>A (p.Phe1340Leu)
 gnomAD v4
17g.50185809A>CCA400191488COL1A1c.4217T>G (p.Phe1406Cys)
c.3947T>G (p.Phe1316Cys)
c.3299T>G (p.Phe1100Cys)
c.4019T>G (p.Phe1340Cys)
17g.50185809A>GCA400191492COL1A1c.4217T>C (p.Phe1406Ser)
c.3947T>C (p.Phe1316Ser)
c.3299T>C (p.Phe1100Ser)
c.4019T>C (p.Phe1340Ser)
17g.50185809A>TCA400191495COL1A1c.4217T>A (p.Phe1406Tyr)
c.3947T>A (p.Phe1316Tyr)
c.3299T>A (p.Phe1100Tyr)
c.4019T>A (p.Phe1340Tyr)
 gnomAD v4
17g.50185810A>CCA400191499COL1A1c.4216T>G (p.Phe1406Val)
c.3946T>G (p.Phe1316Val)
c.3298T>G (p.Phe1100Val)
c.4018T>G (p.Phe1340Val)
17g.50185810A>GCA400191501COL1A1c.4216T>C (p.Phe1406Leu)
c.3946T>C (p.Phe1316Leu)
c.3298T>C (p.Phe1100Leu)
c.4018T>C (p.Phe1340Leu)
17g.50185810A>TCA400191504COL1A1c.4216T>A (p.Phe1406Ile)
c.3946T>A (p.Phe1316Ile)
c.3298T>A (p.Phe1100Ile)
c.4018T>A (p.Phe1340Ile)
17g.50185811G>ACA500991538COL1A1c.4215C>T (p.Arg1405=)
c.3945C>T (p.Arg1315=)
c.3297C>T (p.Arg1099=)
c.4017C>T (p.Arg1339=)
 dbSNP gnomAD v4
17g.50185811G>CCA500991539COL1A1c.4215C>G (p.Arg1405=)
c.3945C>G (p.Arg1315=)
c.3297C>G (p.Arg1099=)
c.4017C>G (p.Arg1339=)
17g.50185811G=CA2263913859COL1A1c.4215C= (p.Arg1405=)
c.3945C= (p.Arg1315=)
c.3297C= (p.Arg1099=)
c.4017C= (p.Arg1339=)
17g.50185811G>TCA500991540COL1A1c.4215C>A (p.Arg1405=)
c.3945C>A (p.Arg1315=)
c.3297C>A (p.Arg1099=)
c.4017C>A (p.Arg1339=)
 dbSNP
17g.50185812C>ACA400191507COL1A1c.4214G>T (p.Arg1405Leu)
c.3944G>T (p.Arg1315Leu)
c.3296G>T (p.Arg1099Leu)
c.4016G>T (p.Arg1339Leu)
17g.50185812C=CA2263913860COL1A1c.4214G= (p.Arg1405=)
c.3944G= (p.Arg1315=)
c.3296G= (p.Arg1099=)
c.4016G= (p.Arg1339=)
17g.50185812C>GCA400191512COL1A1c.4214G>C (p.Arg1405Pro)
c.3944G>C (p.Arg1315Pro)
c.3296G>C (p.Arg1099Pro)
c.4016G>C (p.Arg1339Pro)
 gnomAD v4
17g.50185812C>TCA8644226COL1A1c.4214G>A (p.Arg1405His)
c.3944G>A (p.Arg1315His)
c.3296G>A (p.Arg1099His)
c.4016G>A (p.Arg1339His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185813G>ACA400191518COL1A1c.4213C>T (p.Arg1405Cys)
c.3943C>T (p.Arg1315Cys)
c.3295C>T (p.Arg1099Cys)
c.4015C>T (p.Arg1339Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185813G>CCA400191521COL1A1c.4213C>G (p.Arg1405Gly)
c.3943C>G (p.Arg1315Gly)
c.3295C>G (p.Arg1099Gly)
c.4015C>G (p.Arg1339Gly)
17g.50185813G=CA2263913861COL1A1c.4213C= (p.Arg1405=)
c.3943C= (p.Arg1315=)
c.3295C= (p.Arg1099=)
c.4015C= (p.Arg1339=)
17g.50185813G>TCA400191524COL1A1c.4213C>A (p.Arg1405Ser)
c.3943C>A (p.Arg1315Ser)
c.3295C>A (p.Arg1099Ser)
c.4015C>A (p.Arg1339Ser)
 ClinVar
17g.50185814G>ACA8644227COL1A1c.4212C>T (p.Ser1404=)
c.3942C>T (p.Ser1314=)
c.3294C>T (p.Ser1098=)
c.4014C>T (p.Ser1338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185814G>CCA400191529COL1A1c.4212C>G (p.Ser1404Arg)
c.3942C>G (p.Ser1314Arg)
c.3294C>G (p.Ser1098Arg)
c.4014C>G (p.Ser1338Arg)
17g.50185814G=CA2263913862COL1A1c.4212C= (p.Ser1404=)
c.3942C= (p.Ser1314=)
c.3294C= (p.Ser1098=)
c.4014C= (p.Ser1338=)
17g.50185814G>TCA400191527COL1A1c.4212C>A (p.Ser1404Arg)
c.3942C>A (p.Ser1314Arg)
c.3294C>A (p.Ser1098Arg)
c.4014C>A (p.Ser1338Arg)
 gnomAD v4
17g.50185815C>ACA400191532COL1A1c.4211G>T (p.Ser1404Ile)
c.3941G>T (p.Ser1314Ile)
c.3293G>T (p.Ser1098Ile)
c.4013G>T (p.Ser1338Ile)
17g.50185815C=CA2263913863COL1A1c.4211G= (p.Ser1404=)
c.3941G= (p.Ser1314=)
c.3293G= (p.Ser1098=)
c.4013G= (p.Ser1338=)
17g.50185815C>GCA400191533COL1A1c.4211G>C (p.Ser1404Thr)
c.3941G>C (p.Ser1314Thr)
c.3293G>C (p.Ser1098Thr)
c.4013G>C (p.Ser1338Thr)
17g.50185815C>TCA8644228COL1A1c.4211G>A (p.Ser1404Asn)
c.3941G>A (p.Ser1314Asn)
c.3293G>A (p.Ser1098Asn)
c.4013G>A (p.Ser1338Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185816T>ACA400191540COL1A1c.4210A>T (p.Ser1404Cys)
c.3940A>T (p.Ser1314Cys)
c.3292A>T (p.Ser1098Cys)
c.4012A>T (p.Ser1338Cys)
17g.50185816T>CCA8644229COL1A1c.4210A>G (p.Ser1404Gly)
c.3940A>G (p.Ser1314Gly)
c.3292A>G (p.Ser1098Gly)
c.4012A>G (p.Ser1338Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185816T>GCA400191546COL1A1c.4210A>C (p.Ser1404Arg)
c.3940A>C (p.Ser1314Arg)
c.3292A>C (p.Ser1098Arg)
c.4012A>C (p.Ser1338Arg)
17g.50185816T=CA2263913864COL1A1c.4210A= (p.Ser1404=)
c.3940A= (p.Ser1314=)
c.3292A= (p.Ser1098=)
c.4012A= (p.Ser1338=)
17g.50185817G>ACA291542791COL1A1c.4209C>T (p.Asn1403=)
c.3939C>T (p.Asn1313=)
c.3291C>T (p.Asn1097=)
c.4011C>T (p.Asn1337=)
 dbSNP gnomAD v4
17g.50185817G>CCA400191552COL1A1c.4209C>G (p.Asn1403Lys)
c.3939C>G (p.Asn1313Lys)
c.3291C>G (p.Asn1097Lys)
c.4011C>G (p.Asn1337Lys)
17g.50185817G=CA2263913865COL1A1c.4209C= (p.Asn1403=)
c.3939C= (p.Asn1313=)
c.3291C= (p.Asn1097=)
c.4011C= (p.Asn1337=)
17g.50185817G>TCA400191555COL1A1c.4209C>A (p.Asn1403Lys)
c.3939C>A (p.Asn1313Lys)
c.3291C>A (p.Asn1097Lys)
c.4011C>A (p.Asn1337Lys)
17g.50185817_50185818insGGGCA291542790COL1A1c.4209_4210insCCC (p.Asn1403_Ser1404insPro)
c.3939_3940insCCC (p.Asn1313_Ser1314insPro)
c.3291_3292insCCC (p.Asn1097_Ser1098insPro)
c.4011_4012insCCC (p.Asn1337_Ser1338insPro)
 dbSNP
17g.50185818T>ACA400191559COL1A1c.4208A>T (p.Asn1403Ile)
c.3938A>T (p.Asn1313Ile)
c.3290A>T (p.Asn1097Ile)
c.4010A>T (p.Asn1337Ile)
17g.50185818T>CCA400191563COL1A1c.4208A>G (p.Asn1403Ser)
c.3938A>G (p.Asn1313Ser)
c.3290A>G (p.Asn1097Ser)
c.4010A>G (p.Asn1337Ser)
17g.50185818T>GCA8644230COL1A1c.4208A>C (p.Asn1403Thr)
c.3938A>C (p.Asn1313Thr)
c.3290A>C (p.Asn1097Thr)
c.4010A>C (p.Asn1337Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185818T=CA2263913866COL1A1c.4208A= (p.Asn1403=)
c.3938A= (p.Asn1313=)
c.3290A= (p.Asn1097=)
c.4010A= (p.Asn1337=)
17g.50185819T>ACA400191575COL1A1c.4207A>T (p.Asn1403Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3289A>T (p.Asn1097Tyr)
c.4009A>T (p.Asn1337Tyr)
17g.50185819T>CCA400191581COL1A1c.4207A>G (p.Asn1403Asp)
c.3937A>G (p.Asn1313Asp)
c.3289A>G (p.Asn1097Asp)
c.4009A>G (p.Asn1337Asp)
17g.50185819T>GCA400191579COL1A1c.4207A>C (p.Asn1403His)
c.3937A>C (p.Asn1313His)
c.3289A>C (p.Asn1097His)
c.4009A>C (p.Asn1337His)
17g.50185820G>ACA500991601COL1A1c.4206C>T (p.Gly1402=)
c.3936C>T (p.Gly1312=)
c.3288C>T (p.Gly1096=)
c.4008C>T (p.Gly1336=)
17g.50185820G>CCA500991599COL1A1c.4206C>G (p.Gly1402=)
c.3936C>G (p.Gly1312=)
c.3288C>G (p.Gly1096=)
c.4008C>G (p.Gly1336=)
17g.50185820G>TCA500991594COL1A1c.4206C>A (p.Gly1402=)
c.3936C>A (p.Gly1312=)
c.3288C>A (p.Gly1096=)
c.4008C>A (p.Gly1336=)
17g.50185821_50185957dupCA2697560244COL1A1c.4070_4206dup (p.Asn1403Ter)
c.3800_3936dup (p.Asn1313Ter)
c.3152_3288dup (p.Asn1097Ter)
c.3872_4008dup (p.Asn1337Ter)
 ClinVar
17g.50185821C>ACA400191586COL1A1c.4205G>T (p.Gly1402Val)
c.3935G>T (p.Gly1312Val)
c.3287G>T (p.Gly1096Val)
c.4007G>T (p.Gly1336Val)
17g.50185821C>GCA400191591COL1A1c.4205G>C (p.Gly1402Ala)
c.3935G>C (p.Gly1312Ala)
c.3287G>C (p.Gly1096Ala)
c.4007G>C (p.Gly1336Ala)
17g.50185821C>TCA400191588COL1A1c.4205G>A (p.Gly1402Asp)
c.3935G>A (p.Gly1312Asp)
c.3287G>A (p.Gly1096Asp)
c.4007G>A (p.Gly1336Asp)
17g.50185822C>ACA400191594COL1A1c.4204G>T (p.Gly1402Cys)
c.3934G>T (p.Gly1312Cys)
c.3286G>T (p.Gly1096Cys)
c.4006G>T (p.Gly1336Cys)
17g.50185822C>GCA400191597COL1A1c.4204G>C (p.Gly1402Arg)
c.3934G>C (p.Gly1312Arg)
c.3286G>C (p.Gly1096Arg)
c.4006G>C (p.Gly1336Arg)
17g.50185822C>TCA400191595COL1A1c.4204G>A (p.Gly1402Ser)
c.3934G>A (p.Gly1312Ser)
c.3286G>A (p.Gly1096Ser)
c.4006G>A (p.Gly1336Ser)
 gnomAD v4
17g.50185823C>ACA400191601COL1A1c.4203G>T (p.Glu1401Asp)
c.3933G>T (p.Glu1311Asp)
c.3285G>T (p.Glu1095Asp)
c.4005G>T (p.Glu1335Asp)
17g.50185823C=CA2263913867COL1A1c.4203G= (p.Glu1401=)
c.3933G= (p.Glu1311=)
c.3285G= (p.Glu1095=)
c.4005G= (p.Glu1335=)
17g.50185823C>GCA400191602COL1A1c.4203G>C (p.Glu1401Asp)
c.3933G>C (p.Glu1311Asp)
c.3285G>C (p.Glu1095Asp)
c.4005G>C (p.Glu1335Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.50185823C>TCA500991602COL1A1c.4203G>A (p.Glu1401=)
c.3933G>A (p.Glu1311=)
c.3285G>A (p.Glu1095=)
c.4005G>A (p.Glu1335=)
 dbSNP gnomAD v4
17g.50185824T>ACA400191605COL1A1c.4202A>T (p.Glu1401Val)
c.3932A>T (p.Glu1311Val)
c.3284A>T (p.Glu1095Val)
c.4004A>T (p.Glu1335Val)
17g.50185824T>CCA400191610COL1A1c.4202A>G (p.Glu1401Gly)
c.3932A>G (p.Glu1311Gly)
c.3284A>G (p.Glu1095Gly)
c.4004A>G (p.Glu1335Gly)
17g.50185824T>GCA400191607COL1A1c.4202A>C (p.Glu1401Ala)
c.3932A>C (p.Glu1311Ala)
c.3284A>C (p.Glu1095Ala)
c.4004A>C (p.Glu1335Ala)
17g.50185825C>ACA400191614COL1A1c.4201G>T (p.Glu1401Ter)
c.3931G>T (p.Glu1311Ter)
c.3283G>T (p.Glu1095Ter)
c.4003G>T (p.Glu1335Ter)
 ClinVar
17g.50185825C=CA2263913868COL1A1c.4201G= (p.Glu1401=)
c.3931G= (p.Glu1311=)
c.3283G= (p.Glu1095=)
c.4003G= (p.Glu1335=)
17g.50185825C>GCA400191619COL1A1c.4201G>C (p.Glu1401Gln)
c.3931G>C (p.Glu1311Gln)
c.3283G>C (p.Glu1095Gln)
c.4003G>C (p.Glu1335Gln)
17g.50185825C>TCA8644231COL1A1c.4201G>A (p.Glu1401Lys)
c.3931G>A (p.Glu1311Lys)
c.3283G>A (p.Glu1095Lys)
c.4003G>A (p.Glu1335Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.50185826G>ACA8644232COL1A1c.4200C>T (p.Ala1400=)
c.3930C>T (p.Ala1310=)
c.3282C>T (p.Ala1094=)
c.4002C>T (p.Ala1334=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185826G>CCA500991606COL1A1c.4200C>G (p.Ala1400=)
c.3930C>G (p.Ala1310=)
c.3282C>G (p.Ala1094=)
c.4002C>G (p.Ala1334=)
17g.50185826G=CA2263913869COL1A1c.4200C= (p.Ala1400=)
c.3930C= (p.Ala1310=)
c.3282C= (p.Ala1094=)
c.4002C= (p.Ala1334=)
17g.50185826G>TCA500991607COL1A1c.4200C>A (p.Ala1400=)
c.3930C>A (p.Ala1310=)
c.3282C>A (p.Ala1094=)
c.4002C>A (p.Ala1334=)
 gnomAD v4 COSMIC
17g.50185827G>ACA400191624COL1A1c.4199C>T (p.Ala1400Val)
c.3929C>T (p.Ala1310Val)
c.3281C>T (p.Ala1094Val)
c.4001C>T (p.Ala1334Val)
17g.50185827G>CCA400191627COL1A1c.4199C>G (p.Ala1400Gly)
c.3929C>G (p.Ala1310Gly)
c.3281C>G (p.Ala1094Gly)
c.4001C>G (p.Ala1334Gly)
 dbSNP
17g.50185827G=CA2263913870COL1A1c.4199C= (p.Ala1400=)
c.3929C= (p.Ala1310=)
c.3281C= (p.Ala1094=)
c.4001C= (p.Ala1334=)
17g.50185827G>TCA400191629COL1A1c.4199C>A (p.Ala1400Asp)
c.3929C>A (p.Ala1310Asp)
c.3281C>A (p.Ala1094Asp)
c.4001C>A (p.Ala1334Asp)
 ClinVar dbSNP
17g.50185828C>ACA400191634COL1A1c.4198G>T (p.Ala1400Ser)
c.3928G>T (p.Ala1310Ser)
c.3280G>T (p.Ala1094Ser)
c.4000G>T (p.Ala1334Ser)
17g.50185828C=CA2263913871COL1A1c.4198G= (p.Ala1400=)
c.3928G= (p.Ala1310=)
c.3280G= (p.Ala1094=)
c.4000G= (p.Ala1334=)
17g.50185828C>GCA8644233COL1A1c.4198G>C (p.Ala1400Pro)
c.3928G>C (p.Ala1310Pro)
c.3280G>C (p.Ala1094Pro)
c.4000G>C (p.Ala1334Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185828C>TCA400191639COL1A1c.4198G>A (p.Ala1400Thr)
c.3928G>A (p.Ala1310Thr)
c.3280G>A (p.Ala1094Thr)
c.4000G>A (p.Ala1334Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.50185829G>ACA8644234COL1A1c.4197C>T (p.Arg1399=)
c.3927C>T (p.Arg1309=)
c.3279C>T (p.Arg1093=)
c.3999C>T (p.Arg1333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185829G>CCA500991608COL1A1c.4197C>G (p.Arg1399=)
c.3927C>G (p.Arg1309=)
c.3279C>G (p.Arg1093=)
c.3999C>G (p.Arg1333=)
 dbSNP
17g.50185829G=CA2263913872COL1A1c.4197C= (p.Arg1399=)
c.3927C= (p.Arg1309=)
c.3279C= (p.Arg1093=)
c.3999C= (p.Arg1333=)
17g.50185829G>TCA500991609COL1A1c.4197C>A (p.Arg1399=)
c.3927C>A (p.Arg1309=)
c.3279C>A (p.Arg1093=)
c.3999C>A (p.Arg1333=)
17g.50185830C>ACA400191651COL1A1c.4196G>T (p.Arg1399Leu)
c.3926G>T (p.Arg1309Leu)
c.3278G>T (p.Arg1093Leu)
c.3998G>T (p.Arg1333Leu)
17g.50185830C=CA2263913873COL1A1c.4196G= (p.Arg1399=)
c.3926G= (p.Arg1309=)
c.3278G= (p.Arg1093=)
c.3998G= (p.Arg1333=)
17g.50185830C>GCA400191648COL1A1c.4196G>C (p.Arg1399Pro)
c.3926G>C (p.Arg1309Pro)
c.3278G>C (p.Arg1093Pro)
c.3998G>C (p.Arg1333Pro)
17g.50185830C>TCA8644235COL1A1c.4196G>A (p.Arg1399His)
c.3926G>A (p.Arg1309His)
c.3278G>A (p.Arg1093His)
c.3998G>A (p.Arg1333His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185831G>ACA8644236COL1A1c.4195C>T (p.Arg1399Cys)
c.3925C>T (p.Arg1309Cys)
c.3277C>T (p.Arg1093Cys)
c.3997C>T (p.Arg1333Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185831G>CCA400191657COL1A1c.4195C>G (p.Arg1399Gly)
c.3925C>G (p.Arg1309Gly)
c.3277C>G (p.Arg1093Gly)
c.3997C>G (p.Arg1333Gly)
17g.50185831G=CA2263913874COL1A1c.4195C= (p.Arg1399=)
c.3925C= (p.Arg1309=)
c.3277C= (p.Arg1093=)
c.3997C= (p.Arg1333=)
17g.50185831G>TCA400191660COL1A1c.4195C>A (p.Arg1399Ser)
c.3925C>A (p.Arg1309Ser)
c.3277C>A (p.Arg1093Ser)
c.3997C>A (p.Arg1333Ser)
 dbSNP
17g.50185832G>ACA500991615COL1A1c.4194C>T (p.Ile1398=)
c.3924C>T (p.Ile1308=)
c.3276C>T (p.Ile1092=)
c.3996C>T (p.Ile1332=)
17g.50185832G>CCA400191664COL1A1c.4194C>G (p.Ile1398Met)
c.3924C>G (p.Ile1308Met)
c.3276C>G (p.Ile1092Met)
c.3996C>G (p.Ile1332Met)
17g.50185832G>TCA500991617COL1A1c.4194C>A (p.Ile1398=)
c.3924C>A (p.Ile1308=)
c.3276C>A (p.Ile1092=)
c.3996C>A (p.Ile1332=)
17g.50185833A>CCA400191667COL1A1c.4193T>G (p.Ile1398Ser)
c.3923T>G (p.Ile1308Ser)
c.3275T>G (p.Ile1092Ser)
c.3995T>G (p.Ile1332Ser)
 ClinVar
17g.50185833A>GCA400191669COL1A1c.4193T>C (p.Ile1398Thr)
c.3923T>C (p.Ile1308Thr)
c.3275T>C (p.Ile1092Thr)
c.3995T>C (p.Ile1332Thr)
17g.50185833A>TCA400191671COL1A1c.4193T>A (p.Ile1398Asn)
c.3923T>A (p.Ile1308Asn)
c.3275T>A (p.Ile1092Asn)
c.3995T>A (p.Ile1332Asn)
17g.50185834T>ACA8644237COL1A1c.4192A>T (p.Ile1398Phe)
c.3922A>T (p.Ile1308Phe)
c.3274A>T (p.Ile1092Phe)
c.3994A>T (p.Ile1332Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185834T>CCA400191675COL1A1c.4192A>G (p.Ile1398Val)
c.3922A>G (p.Ile1308Val)
c.3274A>G (p.Ile1092Val)
c.3994A>G (p.Ile1332Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185834T>GCA400191677COL1A1c.4192A>C (p.Ile1398Leu)
c.3922A>C (p.Ile1308Leu)
c.3274A>C (p.Ile1092Leu)
c.3994A>C (p.Ile1332Leu)
 dbSNP
17g.50185834T=CA2263913875COL1A1c.4192A= (p.Ile1398=)
c.3922A= (p.Ile1308=)
c.3274A= (p.Ile1092=)
c.3994A= (p.Ile1332=)
17g.50185835C>ACA400191680COL1A1c.4191G>T (p.Glu1397Asp)
c.3921G>T (p.Glu1307Asp)
c.3273G>T (p.Glu1091Asp)
c.3993G>T (p.Glu1331Asp)
 ClinVar
17g.50185835C>GCA400191683COL1A1c.4191G>C (p.Glu1397Asp)
c.3921G>C (p.Glu1307Asp)
c.3273G>C (p.Glu1091Asp)
c.3993G>C (p.Glu1331Asp)
17g.50185835C>TCA500991621COL1A1c.4191G>A (p.Glu1397=)
c.3921G>A (p.Glu1307=)
c.3273G>A (p.Glu1091=)
c.3993G>A (p.Glu1331=)
 gnomAD v4
17g.50185836T>ACA400191687COL1A1c.4190A>T (p.Glu1397Val)
c.3920A>T (p.Glu1307Val)
c.3272A>T (p.Glu1091Val)
c.3992A>T (p.Glu1331Val)
17g.50185836T>CCA400191686COL1A1c.4190A>G (p.Glu1397Gly)
c.3920A>G (p.Glu1307Gly)
c.3272A>G (p.Glu1091Gly)
c.3992A>G (p.Glu1331Gly)
17g.50185836T>GCA400191685COL1A1c.4190A>C (p.Glu1397Ala)
c.3920A>C (p.Glu1307Ala)
c.3272A>C (p.Glu1091Ala)
c.3992A>C (p.Glu1331Ala)
17g.50185837C>ACA400191688COL1A1c.4189G>T (p.Glu1397Ter)
c.3919G>T (p.Glu1307Ter)
c.3271G>T (p.Glu1091Ter)
c.3991G>T (p.Glu1331Ter)
 ClinVar dbSNP
17g.50185837C=CA2263913876COL1A1c.4189G= (p.Glu1397=)
c.3919G= (p.Glu1307=)
c.3271G= (p.Glu1091=)
c.3991G= (p.Glu1331=)
17g.50185837C>GCA291542792COL1A1c.4189G>C (p.Glu1397Gln)
c.3919G>C (p.Glu1307Gln)
c.3271G>C (p.Glu1091Gln)
c.3991G>C (p.Glu1331Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185837C>TCA400191690COL1A1c.4189G>A (p.Glu1397Lys)
c.3919G>A (p.Glu1307Lys)
c.3271G>A (p.Glu1091Lys)
c.3991G>A (p.Glu1331Lys)
 ClinVar gnomAD v4
17g.50185838G>ACA8644238COL1A1c.4188C>T (p.Ile1396=)
c.3918C>T (p.Ile1306=)
c.3270C>T (p.Ile1090=)
c.3990C>T (p.Ile1330=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185838G>CCA400191694COL1A1c.4188C>G (p.Ile1396Met)
c.3918C>G (p.Ile1306Met)
c.3270C>G (p.Ile1090Met)
c.3990C>G (p.Ile1330Met)
 gnomAD v4
17g.50185838G=CA2263913877COL1A1c.4188C= (p.Ile1396=)
c.3918C= (p.Ile1306=)
c.3270C= (p.Ile1090=)
c.3990C= (p.Ile1330=)
17g.50185838G>TCA500991627COL1A1c.4188C>A (p.Ile1396=)
c.3918C>A (p.Ile1306=)
c.3270C>A (p.Ile1090=)
c.3990C>A (p.Ile1330=)
17g.50185839A=CA2263913878COL1A1c.4187T= (p.Ile1396=)
c.3917T= (p.Ile1306=)
c.3269T= (p.Ile1090=)
c.3989T= (p.Ile1330=)
17g.50185839A>CCA400191695COL1A1c.4187T>G (p.Ile1396Ser)
c.3917T>G (p.Ile1306Ser)
c.3269T>G (p.Ile1090Ser)
c.3989T>G (p.Ile1330Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.50185839A>GCA400191698COL1A1c.4187T>C (p.Ile1396Thr)
c.3917T>C (p.Ile1306Thr)
c.3269T>C (p.Ile1090Thr)
c.3989T>C (p.Ile1330Thr)
17g.50185839A>TCA400191699COL1A1c.4187T>A (p.Ile1396Asn)
c.3917T>A (p.Ile1306Asn)
c.3269T>A (p.Ile1090Asn)
c.3989T>A (p.Ile1330Asn)
17g.50185840T>ACA400191701COL1A1c.4186A>T (p.Ile1396Phe)
c.3916A>T (p.Ile1306Phe)
c.3268A>T (p.Ile1090Phe)
c.3988A>T (p.Ile1330Phe)
17g.50185840T>CCA400191703COL1A1c.4186A>G (p.Ile1396Val)
c.3916A>G (p.Ile1306Val)
c.3268A>G (p.Ile1090Val)
c.3988A>G (p.Ile1330Val)
17g.50185840T>GCA400191706COL1A1c.4186A>C (p.Ile1396Leu)
c.3916A>C (p.Ile1306Leu)
c.3268A>C (p.Ile1090Leu)
c.3988A>C (p.Ile1330Leu)
17g.50185841C>ACA400191709COL1A1c.4185G>T (p.Glu1395Asp)
c.3915G>T (p.Glu1305Asp)
c.3267G>T (p.Glu1089Asp)
c.3987G>T (p.Glu1329Asp)
17g.50185841C>GCA400191711COL1A1c.4185G>C (p.Glu1395Asp)
c.3915G>C (p.Glu1305Asp)
c.3267G>C (p.Glu1089Asp)
c.3987G>C (p.Glu1329Asp)
17g.50185841C>TCA500991630COL1A1c.4185G>A (p.Glu1395=)
c.3915G>A (p.Glu1305=)
c.3267G>A (p.Glu1089=)
c.3987G>A (p.Glu1329=)
17g.50185842T>ACA400191718COL1A1c.4184A>T (p.Glu1395Val)
c.3914A>T (p.Glu1305Val)
c.3266A>T (p.Glu1089Val)
c.3986A>T (p.Glu1329Val)
17g.50185842T>CCA400191714COL1A1c.4184A>G (p.Glu1395Gly)
c.3914A>G (p.Glu1305Gly)
c.3266A>G (p.Glu1089Gly)
c.3986A>G (p.Glu1329Gly)
17g.50185842T>GCA400191716COL1A1c.4184A>C (p.Glu1395Ala)
c.3914A>C (p.Glu1305Ala)
c.3266A>C (p.Glu1089Ala)
c.3986A>C (p.Glu1329Ala)
17g.50185843C>ACA400191720COL1A1c.4183G>T (p.Glu1395Ter)
c.3913G>T (p.Glu1305Ter)
c.3265G>T (p.Glu1089Ter)
c.3985G>T (p.Glu1329Ter)
 ClinVar COSMIC
17g.50185843C=CA2263913879COL1A1c.4183G= (p.Glu1395=)
c.3913G= (p.Glu1305=)
c.3265G= (p.Glu1089=)
c.3985G= (p.Glu1329=)
17g.50185843C>GCA400191722COL1A1c.4183G>C (p.Glu1395Gln)
c.3913G>C (p.Glu1305Gln)
c.3265G>C (p.Glu1089Gln)
c.3985G>C (p.Glu1329Gln)
17g.50185843C>TCA8644239COL1A1c.4183G>A (p.Glu1395Lys)
c.3913G>A (p.Glu1305Lys)
c.3265G>A (p.Glu1089Lys)
c.3985G>A (p.Glu1329Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185843_50185846delinsCGTTCA2263913880COL1A1c.4180_4183delinsAACG (p.Asn1394=)
c.3910_3913delinsAACG (p.Asn1304=)
c.3262_3265delinsAACG (p.Asn1088=)
c.3982_3985delinsAACG (p.Asn1328=)
17g.50185844G>ACA8644240COL1A1c.4182C>T (p.Asn1394=)
n.1147C>T
c.3912C>T (p.Asn1304=)
c.3264C>T (p.Asn1088=)
c.3984C>T (p.Asn1328=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185844G>CCA400191728COL1A1c.4182C>G (p.Asn1394Lys)
n.1147C>G
c.3912C>G (p.Asn1304Lys)
c.3264C>G (p.Asn1088Lys)
c.3984C>G (p.Asn1328Lys)
17g.50185844G=CA2263913881COL1A1c.4182C= (p.Asn1394=)
n.1147C=
c.3912C= (p.Asn1304=)
c.3264C= (p.Asn1088=)
c.3984C= (p.Asn1328=)
17g.50185844G>TCA8644241COL1A1c.4182C>A (p.Asn1394Lys)
n.1147C>A
c.3912C>A (p.Asn1304Lys)
c.3264C>A (p.Asn1088Lys)
c.3984C>A (p.Asn1328Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185845_50185847delCA984452345COL1A1c.4180_4182del (p.Asn1394del)
n.1145_1147del
c.3910_3912del (p.Asn1304del)
c.3262_3264del (p.Asn1088del)
c.3982_3984del (p.Asn1328del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185845T>ACA400191732COL1A1c.4181A>T (p.Asn1394Ile)
n.1146A>T
c.3911A>T (p.Asn1304Ile)
c.3263A>T (p.Asn1088Ile)
c.3983A>T (p.Asn1328Ile)
17g.50185845T>CCA8644242COL1A1c.4181A>G (p.Asn1394Ser)
n.1146A>G
c.3911A>G (p.Asn1304Ser)
c.3263A>G (p.Asn1088Ser)
c.3983A>G (p.Asn1328Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185845T>GCA400191734COL1A1c.4181A>C (p.Asn1394Thr)
n.1146A>C
c.3911A>C (p.Asn1304Thr)
c.3263A>C (p.Asn1088Thr)
c.3983A>C (p.Asn1328Thr)
17g.50185845T=CA2263913882COL1A1c.4181A= (p.Asn1394=)
n.1146A=
c.3911A= (p.Asn1304=)
c.3263A= (p.Asn1088=)
c.3983A= (p.Asn1328=)
17g.50185846T>ACA400191736COL1A1c.4180A>T (p.Asn1394Tyr)
n.1145A>T
c.3910A>T (p.Asn1304Tyr)
c.3262A>T (p.Asn1088Tyr)
c.3982A>T (p.Asn1328Tyr)
17g.50185846T>CCA400191738COL1A1c.4180A>G (p.Asn1394Asp)
n.1145A>G
c.3910A>G (p.Asn1304Asp)
c.3262A>G (p.Asn1088Asp)
c.3982A>G (p.Asn1328Asp)
17g.50185846T>GCA400191739COL1A1c.4180A>C (p.Asn1394His)
n.1145A>C
c.3910A>C (p.Asn1304His)
c.3262A>C (p.Asn1088His)
c.3982A>C (p.Asn1328His)
17g.50185847G>ACA8644243COL1A1c.4179C>T (p.Ser1393=)
n.1144C>T
c.3909C>T (p.Ser1303=)
c.3261C>T (p.Ser1087=)
c.3981C>T (p.Ser1327=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185847G>CCA500991640COL1A1c.4179C>G (p.Ser1393=)
n.1144C>G
c.3909C>G (p.Ser1303=)
c.3261C>G (p.Ser1087=)
c.3981C>G (p.Ser1327=)
17g.50185847G=CA2263913883COL1A1c.4179C= (p.Ser1393=)
n.1144C=
c.3909C= (p.Ser1303=)
c.3261C= (p.Ser1087=)
c.3981C= (p.Ser1327=)
17g.50185847G>TCA500991642COL1A1c.4179C>A (p.Ser1393=)
n.1144C>A
c.3909C>A (p.Ser1303=)
c.3261C>A (p.Ser1087=)
c.3981C>A (p.Ser1327=)
17g.50185848G>ACA8644244COL1A1c.4178C>T (p.Ser1393Phe)
n.1143C>T
c.3908C>T (p.Ser1303Phe)
c.3260C>T (p.Ser1087Phe)
c.3980C>T (p.Ser1327Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185848G>CCA400191740COL1A1c.4178C>G (p.Ser1393Cys)
n.1143C>G
c.3908C>G (p.Ser1303Cys)
c.3260C>G (p.Ser1087Cys)
c.3980C>G (p.Ser1327Cys)
17g.50185848G=CA2263913884COL1A1c.4178C= (p.Ser1393=)
n.1143C=
c.3908C= (p.Ser1303=)
c.3260C= (p.Ser1087=)
c.3980C= (p.Ser1327=)
17g.50185848G>TCA400191741COL1A1c.4178C>A (p.Ser1393Tyr)
n.1143C>A
c.3908C>A (p.Ser1303Tyr)
c.3260C>A (p.Ser1087Tyr)
c.3980C>A (p.Ser1327Tyr)
17g.50185849A=CA2263913885COL1A1c.4177T= (p.Ser1393=)
n.1142T=
c.3907T= (p.Ser1303=)
c.3259T= (p.Ser1087=)
c.3979T= (p.Ser1327=)
17g.50185849A>CCA400191742COL1A1c.4177T>G (p.Ser1393Ala)
n.1142T>G
c.3907T>G (p.Ser1303Ala)
c.3259T>G (p.Ser1087Ala)
c.3979T>G (p.Ser1327Ala)
 dbSNP
17g.50185849A>GCA400191744COL1A1c.4177T>C (p.Ser1393Pro)
n.1142T>C
c.3907T>C (p.Ser1303Pro)
c.3259T>C (p.Ser1087Pro)
c.3979T>C (p.Ser1327Pro)
17g.50185849A>TCA400191746COL1A1c.4177T>A (p.Ser1393Thr)
n.1142T>A
c.3907T>A (p.Ser1303Thr)
c.3259T>A (p.Ser1087Thr)
c.3979T>A (p.Ser1327Thr)
 ClinVar gnomAD v4
17g.50185850G>ACA8644245COL1A1c.4176C>T (p.Gly1392=)
n.1141C>T
c.3906C>T (p.Gly1302=)
c.3258C>T (p.Gly1086=)
c.3978C>T (p.Gly1326=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185850G>CCA500991646COL1A1c.4176C>G (p.Gly1392=)
n.1141C>G
c.3906C>G (p.Gly1302=)
c.3258C>G (p.Gly1086=)
c.3978C>G (p.Gly1326=)
17g.50185850G=CA2263913886COL1A1c.4176C= (p.Gly1392=)
n.1141C=
c.3906C= (p.Gly1302=)
c.3258C= (p.Gly1086=)
c.3978C= (p.Gly1326=)
17g.50185850G>TCA500991647COL1A1c.4176C>A (p.Gly1392=)
n.1141C>A
c.3906C>A (p.Gly1302=)
c.3258C>A (p.Gly1086=)
c.3978C>A (p.Gly1326=)
 dbSNP
17g.50185851C>ACA400191753COL1A1c.4175G>T (p.Gly1392Val)
n.1140G>T
c.3905G>T (p.Gly1302Val)
c.3257G>T (p.Gly1086Val)
c.3977G>T (p.Gly1326Val)
17g.50185851C=CA2263913887COL1A1c.4175G= (p.Gly1392=)
n.1140G=
c.3905G= (p.Gly1302=)
c.3257G= (p.Gly1086=)
c.3977G= (p.Gly1326=)
17g.50185851C>GCA8644246COL1A1c.4175G>C (p.Gly1392Ala)
n.1140G>C
c.3905G>C (p.Gly1302Ala)
c.3257G>C (p.Gly1086Ala)
c.3977G>C (p.Gly1326Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185851C>TCA400191751COL1A1c.4175G>A (p.Gly1392Asp)
n.1140G>A
c.3905G>A (p.Gly1302Asp)
c.3257G>A (p.Gly1086Asp)
c.3977G>A (p.Gly1326Asp)
17g.50185852C>ACA400191756COL1A1c.4174G>T (p.Gly1392Cys)
n.1139G>T
c.3904G>T (p.Gly1302Cys)
c.3256G>T (p.Gly1086Cys)
c.3976G>T (p.Gly1326Cys)
17g.50185852C=CA2263913888COL1A1c.4174G= (p.Gly1392=)
n.1139G=
c.3904G= (p.Gly1302=)
c.3256G= (p.Gly1086=)
c.3976G= (p.Gly1326=)
17g.50185852C>GCA400191758COL1A1c.4174G>C (p.Gly1392Arg)
n.1139G>C
c.3904G>C (p.Gly1302Arg)
c.3256G>C (p.Gly1086Arg)
c.3976G>C (p.Gly1326Arg)
17g.50185852C>TCA291542793COL1A1c.4174G>A (p.Gly1392Ser)
n.1139G>A
c.3904G>A (p.Gly1302Ser)
c.3256G>A (p.Gly1086Ser)
c.3976G>A (p.Gly1326Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185853C>ACA400191762COL1A1c.4173G>T (p.Gln1391His)
n.1138G>T
c.3903G>T (p.Gln1301His)
c.3255G>T (p.Gln1085His)
c.3975G>T (p.Gln1325His)
17g.50185853C>GCA400191764COL1A1c.4173G>C (p.Gln1391His)
n.1138G>C
c.3903G>C (p.Gln1301His)
c.3255G>C (p.Gln1085His)
c.3975G>C (p.Gln1325His)
17g.50185853C>TCA500991654COL1A1c.4173G>A (p.Gln1391=)
n.1138G>A
c.3903G>A (p.Gln1301=)
c.3255G>A (p.Gln1085=)
c.3975G>A (p.Gln1325=)
17g.50185854T>ACA400191767COL1A1c.4172A>T (p.Gln1391Leu)
n.1137A>T
c.3902A>T (p.Gln1301Leu)
c.3254A>T (p.Gln1085Leu)
c.3974A>T (p.Gln1325Leu)
17g.50185854T>CCA8644247COL1A1c.4172A>G (p.Gln1391Arg)
n.1137A>G
c.3902A>G (p.Gln1301Arg)
c.3254A>G (p.Gln1085Arg)
c.3974A>G (p.Gln1325Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185854T>GCA400191766COL1A1c.4172A>C (p.Gln1391Pro)
n.1137A>C
c.3902A>C (p.Gln1301Pro)
c.3254A>C (p.Gln1085Pro)
c.3974A>C (p.Gln1325Pro)
17g.50185854T=CA2263913889COL1A1c.4172A= (p.Gln1391=)
n.1137A=
c.3902A= (p.Gln1301=)
c.3254A= (p.Gln1085=)
c.3974A= (p.Gln1325=)
17g.50185855G>ACA400191768COL1A1c.4171C>T (p.Gln1391Ter)
n.1136C>T
c.3901C>T (p.Gln1301Ter)
c.3253C>T (p.Gln1085Ter)
c.3973C>T (p.Gln1325Ter)
 ClinVar dbSNP
17g.50185855G>CCA400191770COL1A1c.4171C>G (p.Gln1391Glu)
n.1136C>G
c.3901C>G (p.Gln1301Glu)
c.3253C>G (p.Gln1085Glu)
c.3973C>G (p.Gln1325Glu)
17g.50185855G=CA2263913890COL1A1c.4171C= (p.Gln1391=)
n.1136C=
c.3901C= (p.Gln1301=)
c.3253C= (p.Gln1085=)
c.3973C= (p.Gln1325=)
17g.50185855G>TCA291542794COL1A1c.4171C>A (p.Gln1391Lys)
n.1136C>A
c.3901C>A (p.Gln1301Lys)
c.3253C>A (p.Gln1085Lys)
c.3973C>A (p.Gln1325Lys)
 dbSNP
17g.50185856G>ACA8644248COL1A1c.4170C>T (p.Leu1390=)
n.1135C>T
c.3900C>T (p.Leu1300=)
c.3252C>T (p.Leu1084=)
c.3972C>T (p.Leu1324=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185856G>CCA500991656COL1A1c.4170C>G (p.Leu1390=)
n.1135C>G
c.3900C>G (p.Leu1300=)
c.3252C>G (p.Leu1084=)
c.3972C>G (p.Leu1324=)
17g.50185856G=CA2263913891COL1A1c.4170C= (p.Leu1390=)
n.1135C=
c.3900C= (p.Leu1300=)
c.3252C= (p.Leu1084=)
c.3972C= (p.Leu1324=)
17g.50185856G>TCA500991657COL1A1c.4170C>A (p.Leu1390=)
n.1135C>A
c.3900C>A (p.Leu1300=)
c.3252C>A (p.Leu1084=)
c.3972C>A (p.Leu1324=)
17g.50185857A>CCA400191772COL1A1c.4169T>G (p.Leu1390Arg)
n.1134T>G
c.3899T>G (p.Leu1300Arg)
c.3251T>G (p.Leu1084Arg)
c.3971T>G (p.Leu1324Arg)
17g.50185857A>GCA400191774COL1A1c.4169T>C (p.Leu1390Pro)
n.1134T>C
c.3899T>C (p.Leu1300Pro)
c.3251T>C (p.Leu1084Pro)
c.3971T>C (p.Leu1324Pro)
17g.50185857A>TCA400191775COL1A1c.4169T>A (p.Leu1390His)
n.1134T>A
c.3899T>A (p.Leu1300His)
c.3251T>A (p.Leu1084His)
c.3971T>A (p.Leu1324His)
17g.50185858G>ACA8644249COL1A1c.4168C>T (p.Leu1390Phe)
n.1133C>T
c.3898C>T (p.Leu1300Phe)
c.3250C>T (p.Leu1084Phe)
c.3970C>T (p.Leu1324Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185858G>CCA400191785COL1A1c.4168C>G (p.Leu1390Val)
n.1133C>G
c.3898C>G (p.Leu1300Val)
c.3250C>G (p.Leu1084Val)
c.3970C>G (p.Leu1324Val)
17g.50185858G=CA2263913892COL1A1c.4168C= (p.Leu1390=)
n.1133C=
c.3898C= (p.Leu1300=)
c.3250C= (p.Leu1084=)
c.3970C= (p.Leu1324=)
17g.50185858G>TCA400191787COL1A1c.4168C>A (p.Leu1390Ile)
n.1133C>A
c.3898C>A (p.Leu1300Ile)
c.3250C>A (p.Leu1084Ile)
c.3970C>A (p.Leu1324Ile)
17g.50185859G>ACA500991662COL1A1c.4167C>T (p.Leu1389=)
n.1132C>T
c.3897C>T (p.Leu1299=)
c.3249C>T (p.Leu1083=)
c.3969C>T (p.Leu1323=)
17g.50185859G>CCA500991661COL1A1c.4167C>G (p.Leu1389=)
n.1132C>G
c.3897C>G (p.Leu1299=)
c.3249C>G (p.Leu1083=)
c.3969C>G (p.Leu1323=)
 dbSNP
17g.50185859G=CA2263913893COL1A1c.4167C= (p.Leu1389=)
n.1132C=
c.3897C= (p.Leu1299=)
c.3249C= (p.Leu1083=)
c.3969C= (p.Leu1323=)
17g.50185859G>TCA500991659COL1A1c.4167C>A (p.Leu1389=)
n.1132C>A
c.3897C>A (p.Leu1299=)
c.3249C>A (p.Leu1083=)
c.3969C>A (p.Leu1323=)
17g.50185860A>CCA400191789COL1A1c.4166T>G (p.Leu1389Arg)
n.1131T>G
c.3896T>G (p.Leu1299Arg)
c.3248T>G (p.Leu1083Arg)
c.3968T>G (p.Leu1323Arg)
17g.50185860A>GCA400191791COL1A1c.4166T>C (p.Leu1389Pro)
n.1131T>C
c.3896T>C (p.Leu1299Pro)
c.3248T>C (p.Leu1083Pro)
c.3968T>C (p.Leu1323Pro)
 ClinVar dbSNP
17g.50185860A>TCA400191794COL1A1c.4166T>A (p.Leu1389His)
n.1131T>A
c.3896T>A (p.Leu1299His)
c.3248T>A (p.Leu1083His)
c.3968T>A (p.Leu1323His)
17g.50185861G>ACA400191797COL1A1c.4165C>T (p.Leu1389Phe)
n.1130C>T
c.3895C>T (p.Leu1299Phe)
c.3247C>T (p.Leu1083Phe)
c.3967C>T (p.Leu1323Phe)
17g.50185861G>CCA400191800COL1A1c.4165C>G (p.Leu1389Val)
n.1130C>G
c.3895C>G (p.Leu1299Val)
c.3247C>G (p.Leu1083Val)
c.3967C>G (p.Leu1323Val)
17g.50185861G>TCA400191798COL1A1c.4165C>A (p.Leu1389Ile)
n.1130C>A
c.3895C>A (p.Leu1299Ile)
c.3247C>A (p.Leu1083Ile)
c.3967C>A (p.Leu1323Ile)
17g.50185862C>ACA500991668COL1A1c.4164G>T (p.Leu1388=)
n.1129G>T
c.3894G>T (p.Leu1298=)
c.3246G>T (p.Leu1082=)
c.3966G>T (p.Leu1322=)
 dbSNP gnomAD v4
17g.50185862C=CA2263913894COL1A1c.4164G= (p.Leu1388=)
n.1129G=
c.3894G= (p.Leu1298=)
c.3246G= (p.Leu1082=)
c.3966G= (p.Leu1322=)
17g.50185862C>GCA500991667COL1A1c.4164G>C (p.Leu1388=)
n.1129G>C
c.3894G>C (p.Leu1298=)
c.3246G>C (p.Leu1082=)
c.3966G>C (p.Leu1322=)
17g.50185862C>TCA500991666COL1A1c.4164G>A (p.Leu1388=)
n.1129G>A
c.3894G>A (p.Leu1298=)
c.3246G>A (p.Leu1082=)
c.3966G>A (p.Leu1322=)
17g.50185863A=CA2263913895COL1A1c.4163T= (p.Leu1388=)
n.1128T=
c.3893T= (p.Leu1298=)
c.3245T= (p.Leu1082=)
c.3965T= (p.Leu1322=)
17g.50185863A>CCA291542795COL1A1c.4163T>G (p.Leu1388Arg)
n.1128T>G
c.3893T>G (p.Leu1298Arg)
c.3245T>G (p.Leu1082Arg)
c.3965T>G (p.Leu1322Arg)
 dbSNP
17g.50185863A>GCA400191803COL1A1c.4163T>C (p.Leu1388Pro)
n.1128T>C
c.3893T>C (p.Leu1298Pro)
c.3245T>C (p.Leu1082Pro)
c.3965T>C (p.Leu1322Pro)
 ClinVar dbSNP
17g.50185863A>TCA400191804COL1A1c.4163T>A (p.Leu1388Gln)
n.1128T>A
c.3893T>A (p.Leu1298Gln)
c.3245T>A (p.Leu1082Gln)
c.3965T>A (p.Leu1322Gln)
17g.50185864G>ACA500991671COL1A1c.4162C>T (p.Leu1388=)
n.1127C>T
c.3892C>T (p.Leu1298=)
c.3244C>T (p.Leu1082=)
c.3964C>T (p.Leu1322=)
 COSMIC
17g.50185864G>CCA400191806COL1A1c.4162C>G (p.Leu1388Val)
n.1127C>G
c.3892C>G (p.Leu1298Val)
c.3244C>G (p.Leu1082Val)
c.3964C>G (p.Leu1322Val)
 dbSNP gnomAD v2 gnomAD v4
17g.50185864G=CA2263913896COL1A1c.4162C= (p.Leu1388=)
n.1127C=
c.3892C= (p.Leu1298=)
c.3244C= (p.Leu1082=)
c.3964C= (p.Leu1322=)
17g.50185864G>TCA400191808COL1A1c.4162C>A (p.Leu1388Met)
n.1127C>A
c.3892C>A (p.Leu1298Met)
c.3244C>A (p.Leu1082Met)
c.3964C>A (p.Leu1322Met)
17g.50185865G>ACA500991673COL1A1c.4161C>T (p.Ala1387=)
n.1126C>T
c.3891C>T (p.Ala1297=)
c.3243C>T (p.Ala1081=)
c.3963C>T (p.Ala1321=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.50185865G>CCA500991675COL1A1c.4161C>G (p.Ala1387=)
n.1126C>G
c.3891C>G (p.Ala1297=)
c.3243C>G (p.Ala1081=)
c.3963C>G (p.Ala1321=)
17g.50185865G=CA2263913897COL1A1c.4161C= (p.Ala1387=)
n.1126C=
c.3891C= (p.Ala1297=)
c.3243C= (p.Ala1081=)
c.3963C= (p.Ala1321=)
17g.50185865G>TCA500991674COL1A1c.4161C>A (p.Ala1387=)
n.1126C>A
c.3891C>A (p.Ala1297=)
c.3243C>A (p.Ala1081=)
c.3963C>A (p.Ala1321=)
17g.50185866G>ACA261266COL1A1c.4160C>T (p.Ala1387Val)
n.1125C>T
c.3890C>T (p.Ala1297Val)
c.3242C>T (p.Ala1081Val)
c.3962C>T (p.Ala1321Val)
 ClinVar dbSNP
17g.50185866G>CCA400191810COL1A1c.4160C>G (p.Ala1387Gly)
n.1125C>G
c.3890C>G (p.Ala1297Gly)
c.3242C>G (p.Ala1081Gly)
c.3962C>G (p.Ala1321Gly)
17g.50185866G=CA2263913898COL1A1c.4160C= (p.Ala1387=)
n.1125C=
c.3890C= (p.Ala1297=)
c.3242C= (p.Ala1081=)
c.3962C= (p.Ala1321=)
17g.50185866G>TCA400191811COL1A1c.4160C>A (p.Ala1387Asp)
n.1125C>A
c.3890C>A (p.Ala1297Asp)
c.3242C>A (p.Ala1081Asp)
c.3962C>A (p.Ala1321Asp)
17g.50185867C>ACA400191813COL1A1c.4159G>T (p.Ala1387Ser)
n.1124G>T
c.3889G>T (p.Ala1297Ser)
c.3241G>T (p.Ala1081Ser)
c.3961G>T (p.Ala1321Ser)
 dbSNP
17g.50185867C=CA2263913899COL1A1c.4159G= (p.Ala1387=)
n.1124G=
c.3889G= (p.Ala1297=)
c.3241G= (p.Ala1081=)
c.3961G= (p.Ala1321=)
17g.50185867C>GCA400191815COL1A1c.4159G>C (p.Ala1387Pro)
n.1124G>C
c.3889G>C (p.Ala1297Pro)
c.3241G>C (p.Ala1081Pro)
c.3961G>C (p.Ala1321Pro)
17g.50185867C>TCA400191818COL1A1c.4159G>A (p.Ala1387Thr)
n.1124G>A
c.3889G>A (p.Ala1297Thr)
c.3241G>A (p.Ala1081Thr)
c.3961G>A (p.Ala1321Thr)
 ClinVar dbSNP
17g.50185868delCA645569622COL1A1c.4159del (p.Ala1387ProfsTer?)
n.1124del
c.3889del (p.Ala1297ProfsTer?)
c.3241del (p.Ala1081ProfsTer?)
c.3961del (p.Ala1321ProfsTer?)
 COSMIC
17g.50185868C>ACA400191821COL1A1c.4158G>T (p.Lys1386Asn)
n.1123G>T
c.3888G>T (p.Lys1296Asn)
c.3240G>T (p.Lys1080Asn)
c.3960G>T (p.Lys1320Asn)
17g.50185868C=CA2263913900COL1A1c.4158G= (p.Lys1386=)
n.1123G=
c.3888G= (p.Lys1296=)
c.3240G= (p.Lys1080=)
c.3960G= (p.Lys1320=)
17g.50185868C>GCA400191823COL1A1c.4158G>C (p.Lys1386Asn)
n.1123G>C
c.3888G>C (p.Lys1296Asn)
c.3240G>C (p.Lys1080Asn)
c.3960G>C (p.Lys1320Asn)
17g.50185868C>TCA500991678COL1A1c.4158G>A (p.Lys1386=)
n.1123G>A
c.3888G>A (p.Lys1296=)
c.3240G>A (p.Lys1080=)
c.3960G>A (p.Lys1320=)
 dbSNP
17g.50185869T>ACA400191830COL1A1c.4157A>T (p.Lys1386Met)
n.1122A>T
c.3887A>T (p.Lys1296Met)
c.3239A>T (p.Lys1080Met)
c.3959A>T (p.Lys1320Met)
17g.50185869T>CCA400191826COL1A1c.4157A>G (p.Lys1386Arg)
n.1122A>G
c.3887A>G (p.Lys1296Arg)
c.3239A>G (p.Lys1080Arg)
c.3959A>G (p.Lys1320Arg)
17g.50185869T>GCA400191828COL1A1c.4157A>C (p.Lys1386Thr)
n.1122A>C
c.3887A>C (p.Lys1296Thr)
c.3239A>C (p.Lys1080Thr)
c.3959A>C (p.Lys1320Thr)
17g.50185870T>ACA400191834COL1A1c.4156A>T (p.Lys1386Ter)
n.1121A>T
c.3886A>T (p.Lys1296Ter)
c.3238A>T (p.Lys1080Ter)
c.3958A>T (p.Lys1320Ter)
17g.50185870T>CCA400191836COL1A1c.4156A>G (p.Lys1386Glu)
n.1121A>G
c.3886A>G (p.Lys1296Glu)
c.3238A>G (p.Lys1080Glu)
c.3958A>G (p.Lys1320Glu)
17g.50185870T>GCA400191838COL1A1c.4156A>C (p.Lys1386Gln)
n.1121A>C
c.3886A>C (p.Lys1296Gln)
c.3238A>C (p.Lys1080Gln)
c.3958A>C (p.Lys1320Gln)
17g.50185871C>ACA400191840COL1A1c.4155G>T (p.Lys1385Asn)
n.1120G>T
c.3885G>T (p.Lys1295Asn)
c.3237G>T (p.Lys1079Asn)
c.3957G>T (p.Lys1319Asn)
17g.50185871C>GCA400191842COL1A1c.4155G>C (p.Lys1385Asn)
n.1120G>C
c.3885G>C (p.Lys1295Asn)
c.3237G>C (p.Lys1079Asn)
c.3957G>C (p.Lys1319Asn)
17g.50185871C>TCA500991682COL1A1c.4155G>A (p.Lys1385=)
n.1120G>A
c.3885G>A (p.Lys1295=)
c.3237G>A (p.Lys1079=)
c.3957G>A (p.Lys1319=)
 ClinVar
17g.50185872T>ACA400191845COL1A1c.4154A>T (p.Lys1385Met)
n.1119A>T
c.3884A>T (p.Lys1295Met)
c.3236A>T (p.Lys1079Met)
c.3956A>T (p.Lys1319Met)
17g.50185872T>CCA8644250COL1A1c.4154A>G (p.Lys1385Arg)
n.1119A>G
c.3884A>G (p.Lys1295Arg)
c.3236A>G (p.Lys1079Arg)
c.3956A>G (p.Lys1319Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185872T>GCA400191848COL1A1c.4154A>C (p.Lys1385Thr)
n.1119A>C
c.3884A>C (p.Lys1295Thr)
c.3236A>C (p.Lys1079Thr)
c.3956A>C (p.Lys1319Thr)
17g.50185872T=CA2263913901COL1A1c.4154A= (p.Lys1385=)
n.1119A=
c.3884A= (p.Lys1295=)
c.3236A= (p.Lys1079=)
c.3956A= (p.Lys1319=)
17g.50185873T>ACA400191851COL1A1c.4153A>T (p.Lys1385Ter)
n.1118A>T
c.3883A>T (p.Lys1295Ter)
c.3235A>T (p.Lys1079Ter)
c.3955A>T (p.Lys1319Ter)
17g.50185873T>CCA400191853COL1A1c.4153A>G (p.Lys1385Glu)
n.1118A>G
c.3883A>G (p.Lys1295Glu)
c.3235A>G (p.Lys1079Glu)
c.3955A>G (p.Lys1319Glu)
17g.50185873T>GCA400191857COL1A1c.4153A>C (p.Lys1385Gln)
n.1118A>C
c.3883A>C (p.Lys1295Gln)
c.3235A>C (p.Lys1079Gln)
c.3955A>C (p.Lys1319Gln)
 gnomAD v4
17g.50185874G>ACA500991687COL1A1c.4152C>T (p.Leu1384=)
n.1117C>T
c.3882C>T (p.Leu1294=)
c.3234C>T (p.Leu1078=)
c.3954C>T (p.Leu1318=)
17g.50185874G>CCA500991688COL1A1c.4152C>G (p.Leu1384=)
n.1117C>G
c.3882C>G (p.Leu1294=)
c.3234C>G (p.Leu1078=)
c.3954C>G (p.Leu1318=)
 dbSNP
17g.50185874G=CA2263913902COL1A1c.4152C= (p.Leu1384=)
n.1117C=
c.3882C= (p.Leu1294=)
c.3234C= (p.Leu1078=)
c.3954C= (p.Leu1318=)
17g.50185874G>TCA500991690COL1A1c.4152C>A (p.Leu1384=)
n.1117C>A
c.3882C>A (p.Leu1294=)
c.3234C>A (p.Leu1078=)
c.3954C>A (p.Leu1318=)
17g.50185875A>CCA400191861COL1A1c.4151T>G (p.Leu1384Arg)
n.1116T>G
c.3881T>G (p.Leu1294Arg)
c.3233T>G (p.Leu1078Arg)
c.3953T>G (p.Leu1318Arg)
17g.50185875A>GCA400191867COL1A1c.4151T>C (p.Leu1384Pro)
n.1116T>C
c.3881T>C (p.Leu1294Pro)
c.3233T>C (p.Leu1078Pro)
c.3953T>C (p.Leu1318Pro)
17g.50185875A>TCA400191864COL1A1c.4151T>A (p.Leu1384His)
n.1116T>A
c.3881T>A (p.Leu1294His)
c.3233T>A (p.Leu1078His)
c.3953T>A (p.Leu1318His)
17g.50185876G>ACA291542796COL1A1c.4150C>T (p.Leu1384Phe)
n.1115C>T
c.3880C>T (p.Leu1294Phe)
c.3232C>T (p.Leu1078Phe)
c.3952C>T (p.Leu1318Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185876G>CCA400191873COL1A1c.4150C>G (p.Leu1384Val)
n.1115C>G
c.3880C>G (p.Leu1294Val)
c.3232C>G (p.Leu1078Val)
c.3952C>G (p.Leu1318Val)
 COSMIC
17g.50185876G=CA2263913903COL1A1c.4150C= (p.Leu1384=)
n.1115C=
c.3880C= (p.Leu1294=)
c.3232C= (p.Leu1078=)
c.3952C= (p.Leu1318=)
17g.50185876G>TCA400191878COL1A1c.4150C>A (p.Leu1384Ile)
n.1115C>A
c.3880C>A (p.Leu1294Ile)
c.3232C>A (p.Leu1078Ile)
c.3952C>A (p.Leu1318Ile)
17g.50185877G>ACA8644251COL1A1c.4149C>T (p.Asn1383=)
n.1114C>T
c.3879C>T (p.Asn1293=)
c.3231C>T (p.Asn1077=)
c.3951C>T (p.Asn1317=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185877G>CCA400191885COL1A1c.4149C>G (p.Asn1383Lys)
n.1114C>G
c.3879C>G (p.Asn1293Lys)
c.3231C>G (p.Asn1077Lys)
c.3951C>G (p.Asn1317Lys)
17g.50185877G=CA2263913904COL1A1c.4149C= (p.Asn1383=)
n.1114C=
c.3879C= (p.Asn1293=)
c.3231C= (p.Asn1077=)
c.3951C= (p.Asn1317=)
17g.50185877G>TCA400191887COL1A1c.4149C>A (p.Asn1383Lys)
n.1114C>A
c.3879C>A (p.Asn1293Lys)
c.3231C>A (p.Asn1077Lys)
c.3951C>A (p.Asn1317Lys)
17g.50185878T>ACA400191899COL1A1c.4148A>T (p.Asn1383Ile)
n.1113A>T
c.3878A>T (p.Asn1293Ile)
c.3230A>T (p.Asn1077Ile)
c.3950A>T (p.Asn1317Ile)
17g.50185878T>CCA400191894COL1A1c.4148A>G (p.Asn1383Ser)
n.1113A>G
c.3878A>G (p.Asn1293Ser)
c.3230A>G (p.Asn1077Ser)
c.3950A>G (p.Asn1317Ser)
 ClinVar dbSNP
17g.50185878T>GCA400191893COL1A1c.4148A>C (p.Asn1383Thr)
n.1113A>C
c.3878A>C (p.Asn1293Thr)
c.3230A>C (p.Asn1077Thr)
c.3950A>C (p.Asn1317Thr)
17g.50185878T=CA2263913905COL1A1c.4148A= (p.Asn1383=)
n.1113A=
c.3878A= (p.Asn1293=)
c.3230A= (p.Asn1077=)
c.3950A= (p.Asn1317=)
17g.50185879T>ACA400191903COL1A1c.4147A>T (p.Asn1383Tyr)
n.1112A>T
c.3877A>T (p.Asn1293Tyr)
c.3229A>T (p.Asn1077Tyr)
c.3949A>T (p.Asn1317Tyr)
17g.50185879T>CCA400191910COL1A1c.4147A>G (p.Asn1383Asp)
n.1112A>G
c.3877A>G (p.Asn1293Asp)
c.3229A>G (p.Asn1077Asp)
c.3949A>G (p.Asn1317Asp)
17g.50185879T>GCA400191913COL1A1c.4147A>C (p.Asn1383His)
n.1112A>C
c.3877A>C (p.Asn1293His)
c.3229A>C (p.Asn1077His)
c.3949A>C (p.Asn1317His)
17g.50185880G>ACA500991697COL1A1c.4146C>T (p.Gly1382=)
n.1111C>T
c.3876C>T (p.Gly1292=)
c.3228C>T (p.Gly1076=)
c.3948C>T (p.Gly1316=)
17g.50185880G>CCA500991698COL1A1c.4146C>G (p.Gly1382=)
n.1111C>G
c.3876C>G (p.Gly1292=)
c.3228C>G (p.Gly1076=)
c.3948C>G (p.Gly1316=)
17g.50185880G>TCA500991696COL1A1c.4146C>A (p.Gly1382=)
n.1111C>A
c.3876C>A (p.Gly1292=)
c.3228C>A (p.Gly1076=)
c.3948C>A (p.Gly1316=)
17g.50185881C>ACA400191917COL1A1c.4145G>T (p.Gly1382Val)
n.1110G>T
c.3875G>T (p.Gly1292Val)
c.3227G>T (p.Gly1076Val)
c.3947G>T (p.Gly1316Val)
17g.50185881C>GCA400191920COL1A1c.4145G>C (p.Gly1382Ala)
n.1110G>C
c.3875G>C (p.Gly1292Ala)
c.3227G>C (p.Gly1076Ala)
c.3947G>C (p.Gly1316Ala)
17g.50185881C>TCA400191923COL1A1c.4145G>A (p.Gly1382Asp)
n.1110G>A
c.3875G>A (p.Gly1292Asp)
c.3227G>A (p.Gly1076Asp)
c.3947G>A (p.Gly1316Asp)
 COSMIC
17g.50185882C>ACA8644252COL1A1c.4144G>T (p.Gly1382Cys)
n.1109G>T
c.3874G>T (p.Gly1292Cys)
c.3226G>T (p.Gly1076Cys)
c.3946G>T (p.Gly1316Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185882C=CA2263913906COL1A1c.4144G= (p.Gly1382=)
n.1109G=
c.3874G= (p.Gly1292=)
c.3226G= (p.Gly1076=)
c.3946G= (p.Gly1316=)
17g.50185882C>GCA400191931COL1A1c.4144G>C (p.Gly1382Arg)
n.1109G>C
c.3874G>C (p.Gly1292Arg)
c.3226G>C (p.Gly1076Arg)
c.3946G>C (p.Gly1316Arg)
17g.50185882C>TCA400191928COL1A1c.4144G>A (p.Gly1382Ser)
n.1109G>A
c.3874G>A (p.Gly1292Ser)
c.3226G>A (p.Gly1076Ser)
c.3946G>A (p.Gly1316Ser)
17g.50185883A>CCA500991705COL1A1c.4143T>G (p.Thr1381=)
n.1108T>G
c.3873T>G (p.Thr1291=)
c.3225T>G (p.Thr1075=)
c.3945T>G (p.Thr1315=)
17g.50185883A>GCA500991706COL1A1c.4143T>C (p.Thr1381=)
n.1108T>C
c.3873T>C (p.Thr1291=)
c.3225T>C (p.Thr1075=)
c.3945T>C (p.Thr1315=)
17g.50185883A>TCA500991707COL1A1c.4143T>A (p.Thr1381=)
n.1108T>A
c.3873T>A (p.Thr1291=)
c.3225T>A (p.Thr1075=)
c.3945T>A (p.Thr1315=)
17g.50185884G>ACA400191934COL1A1c.4142C>T (p.Thr1381Ile)
n.1107C>T
c.3872C>T (p.Thr1291Ile)
c.3224C>T (p.Thr1075Ile)
c.3944C>T (p.Thr1315Ile)
17g.50185884G>CCA400191936COL1A1c.4142C>G (p.Thr1381Ser)
n.1107C>G
c.3872C>G (p.Thr1291Ser)
c.3224C>G (p.Thr1075Ser)
c.3944C>G (p.Thr1315Ser)
17g.50185884G>TCA400191938COL1A1c.4142C>A (p.Thr1381Asn)
n.1107C>A
c.3872C>A (p.Thr1291Asn)
c.3224C>A (p.Thr1075Asn)
c.3944C>A (p.Thr1315Asn)
17g.50185885T>ACA400191942COL1A1c.4141A>T (p.Thr1381Ser)
n.1106A>T
c.3871A>T (p.Thr1291Ser)
c.3223A>T (p.Thr1075Ser)
c.3943A>T (p.Thr1315Ser)
17g.50185885T>CCA291542797COL1A1c.4141A>G (p.Thr1381Ala)
n.1106A>G
c.3871A>G (p.Thr1291Ala)
c.3223A>G (p.Thr1075Ala)
c.3943A>G (p.Thr1315Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185885T>GCA400191943COL1A1c.4141A>C (p.Thr1381Pro)
n.1106A>C
c.3871A>C (p.Thr1291Pro)
c.3223A>C (p.Thr1075Pro)
c.3943A>C (p.Thr1315Pro)
17g.50185885T=CA2263913907COL1A1c.4141A= (p.Thr1381=)
n.1106A=
c.3871A= (p.Thr1291=)
c.3223A= (p.Thr1075=)
c.3943A= (p.Thr1315=)
17g.50185886C>ACA400191944COL1A1c.4140G>T (p.Gln1380His)
n.1105G>T
c.3870G>T (p.Gln1290His)
c.3222G>T (p.Gln1074His)
c.3942G>T (p.Gln1314His)
17g.50185886C=CA2263913908COL1A1c.4140G= (p.Gln1380=)
n.1105G=
c.3870G= (p.Gln1290=)
c.3222G= (p.Gln1074=)
c.3942G= (p.Gln1314=)
17g.50185886C>GCA10640064COL1A1c.4140G>C (p.Gln1380His)
n.1105G>C
c.3870G>C (p.Gln1290His)
c.3222G>C (p.Gln1074His)
c.3942G>C (p.Gln1314His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185886C>TCA500991710COL1A1c.4140G>A (p.Gln1380=)
n.1105G>A
c.3870G>A (p.Gln1290=)
c.3222G>A (p.Gln1074=)
c.3942G>A (p.Gln1314=)
17g.50185887T>ACA400191949COL1A1c.4139A>T (p.Gln1380Leu)
n.1104A>T
c.3869A>T (p.Gln1290Leu)
c.3221A>T (p.Gln1074Leu)
c.3941A>T (p.Gln1314Leu)
17g.50185887T>CCA400191954COL1A1c.4139A>G (p.Gln1380Arg)
n.1104A>G
c.3869A>G (p.Gln1290Arg)
c.3221A>G (p.Gln1074Arg)
c.3941A>G (p.Gln1314Arg)
17g.50185887T>GCA400191957COL1A1c.4139A>C (p.Gln1380Pro)
n.1104A>C
c.3869A>C (p.Gln1290Pro)
c.3221A>C (p.Gln1074Pro)
c.3941A>C (p.Gln1314Pro)
17g.50185888G>ACA400191964COL1A1c.4138C>T (p.Gln1380Ter)
n.1103C>T
c.3868C>T (p.Gln1290Ter)
c.3220C>T (p.Gln1074Ter)
c.3940C>T (p.Gln1314Ter)
17g.50185888G>CCA400191961COL1A1c.4138C>G (p.Gln1380Glu)
n.1103C>G
c.3868C>G (p.Gln1290Glu)
c.3220C>G (p.Gln1074Glu)
c.3940C>G (p.Gln1314Glu)
17g.50185888G>TCA400191963COL1A1c.4138C>A (p.Gln1380Lys)
n.1103C>A
c.3868C>A (p.Gln1290Lys)
c.3220C>A (p.Gln1074Lys)
c.3940C>A (p.Gln1314Lys)
17g.50185889C>ACA400191968COL1A1c.4137G>T (p.Gln1379His)
n.1102G>T
c.3867G>T (p.Gln1289His)
c.3219G>T (p.Gln1073His)
c.3939G>T (p.Gln1313His)
17g.50185889C=CA2263913909COL1A1c.4137G= (p.Gln1379=)
n.1102G=
c.3867G= (p.Gln1289=)
c.3219G= (p.Gln1073=)
c.3939G= (p.Gln1313=)
17g.50185889C>GCA400191971COL1A1c.4137G>C (p.Gln1379His)
n.1102G>C
c.3867G>C (p.Gln1289His)
c.3219G>C (p.Gln1073His)
c.3939G>C (p.Gln1313His)
17g.50185889C>TCA500991711COL1A1c.4137G>A (p.Gln1379=)
n.1102G>A
c.3867G>A (p.Gln1289=)
c.3219G>A (p.Gln1073=)
c.3939G>A (p.Gln1313=)
 dbSNP
17g.50185890T>ACA400191975COL1A1c.4136A>T (p.Gln1379Leu)
n.1101A>T
c.3866A>T (p.Gln1289Leu)
c.3218A>T (p.Gln1073Leu)
c.3938A>T (p.Gln1313Leu)
17g.50185890T>CCA400191977COL1A1c.4136A>G (p.Gln1379Arg)
n.1101A>G
c.3866A>G (p.Gln1289Arg)
c.3218A>G (p.Gln1073Arg)
c.3938A>G (p.Gln1313Arg)
 dbSNP
17g.50185890T>GCA400191982COL1A1c.4136A>C (p.Gln1379Pro)
n.1101A>C
c.3866A>C (p.Gln1289Pro)
c.3218A>C (p.Gln1073Pro)
c.3938A>C (p.Gln1313Pro)
17g.50185890T=CA2263913910COL1A1c.4136A= (p.Gln1379=)
n.1101A=
c.3866A= (p.Gln1289=)
c.3218A= (p.Gln1073=)
c.3938A= (p.Gln1313=)
17g.50185891G>ACA400191991COL1A1c.4135C>T (p.Gln1379Ter)
n.1100C>T
c.3865C>T (p.Gln1289Ter)
c.3217C>T (p.Gln1073Ter)
c.3937C>T (p.Gln1313Ter)
 ClinVar COSMIC
17g.50185891G>CCA400191987COL1A1c.4135C>G (p.Gln1379Glu)
n.1100C>G
c.3865C>G (p.Gln1289Glu)
c.3217C>G (p.Gln1073Glu)
c.3937C>G (p.Gln1313Glu)
17g.50185891G=CA2263913911COL1A1c.4135C= (p.Gln1379=)
n.1100C=
c.3865C= (p.Gln1289=)
c.3217C= (p.Gln1073=)
c.3937C= (p.Gln1313=)
17g.50185891G>TCA291542798COL1A1c.4135C>A (p.Gln1379Lys)
n.1100C>A
c.3865C>A (p.Gln1289Lys)
c.3217C>A (p.Gln1073Lys)
c.3937C>A (p.Gln1313Lys)
 dbSNP gnomAD v4
17g.50185892G>ACA291542799COL1A1c.4134C>T (p.Asp1378=)
n.1099C>T
c.3864C>T (p.Asp1288=)
c.3216C>T (p.Asp1072=)
c.3936C>T (p.Asp1312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185892G>CCA400191994COL1A1c.4134C>G (p.Asp1378Glu)
n.1099C>G
c.3864C>G (p.Asp1288Glu)
c.3216C>G (p.Asp1072Glu)
c.3936C>G (p.Asp1312Glu)
 gnomAD v4
17g.50185892G=CA2263913912COL1A1c.4134C= (p.Asp1378=)
n.1099C=
c.3864C= (p.Asp1288=)
c.3216C= (p.Asp1072=)
c.3936C= (p.Asp1312=)
17g.50185892G>TCA400191996COL1A1c.4134C>A (p.Asp1378Glu)
n.1099C>A
c.3864C>A (p.Asp1288Glu)
c.3216C>A (p.Asp1072Glu)
c.3936C>A (p.Asp1312Glu)
17g.50185893T>ACA400191997COL1A1c.4133A>T (p.Asp1378Val)
n.1098A>T
c.3863A>T (p.Asp1288Val)
c.3215A>T (p.Asp1072Val)
c.3935A>T (p.Asp1312Val)
17g.50185893T>CCA400191998COL1A1c.4133A>G (p.Asp1378Gly)
n.1098A>G
c.3863A>G (p.Asp1288Gly)
c.3215A>G (p.Asp1072Gly)
c.3935A>G (p.Asp1312Gly)
17g.50185893T>GCA400192000COL1A1c.4133A>C (p.Asp1378Ala)
n.1098A>C
c.3863A>C (p.Asp1288Ala)
c.3215A>C (p.Asp1072Ala)
c.3935A>C (p.Asp1312Ala)
17g.50185894C>ACA400192005COL1A1c.4132G>T (p.Asp1378Tyr)
n.1097G>T
c.3862G>T (p.Asp1288Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3934G>T (p.Asp1312Tyr)
17g.50185894C=CA2263913913COL1A1c.4132G= (p.Asp1378=)
n.1097G=
c.3862G= (p.Asp1288=)
c.3214G= (p.Asp1072=)
c.3934G= (p.Asp1312=)
17g.50185894C>GCA400192010COL1A1c.4132G>C (p.Asp1378His)
n.1097G>C
c.3862G>C (p.Asp1288His)
c.3214G>C (p.Asp1072His)
c.3934G>C (p.Asp1312His)
17g.50185894C>TCA8644253COL1A1c.4132G>A (p.Asp1378Asn)
n.1097G>A
c.3862G>A (p.Asp1288Asn)
c.3214G>A (p.Asp1072Asn)
c.3934G>A (p.Asp1312Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185895C>ACA400192013COL1A1c.4131G>T (p.Met1377Ile)
n.1096G>T
c.3861G>T (p.Met1287Ile)
c.3213G>T (p.Met1071Ile)
c.3933G>T (p.Met1311Ile)
17g.50185895C>GCA400192015COL1A1c.4131G>C (p.Met1377Ile)
n.1096G>C
c.3861G>C (p.Met1287Ile)
c.3213G>C (p.Met1071Ile)
c.3933G>C (p.Met1311Ile)
17g.50185895C>TCA400192019COL1A1c.4131G>A (p.Met1377Ile)
n.1096G>A
c.3861G>A (p.Met1287Ile)
c.3213G>A (p.Met1071Ile)
c.3933G>A (p.Met1311Ile)

Number of alleles fetched