Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50185488G>ACA2263913666COL1A1c.*14C>T (n.*14C>T)
 dbSNP gnomAD v4
17g.50185488G>CCA2638704258COL1A1c.*14C>G (n.*14C>G)
 gnomAD v4
17g.50185488G=CA2263913665COL1A1c.*14C= (n.*14C=)
17g.50185488G>TCA291542756COL1A1c.*14C>A (n.*14C>A)
 dbSNP
17g.50185492_50185495dupCA2263913667COL1A1c.*10_*13dup (n.*10_*13dup)
 dbSNP
17g.50185491A=CA2263913668COL1A1c.*11T= (n.*11T=)
17g.50185491A>GCA2576316969COL1A1c.*11T>C (n.*11T>C)
 gnomAD v4
17g.50185491A>TCA984452150COL1A1c.*11T>A (n.*11T>A)
 dbSNP gnomAD v3 gnomAD v4
17g.50185493G>TCA2576316970COL1A1c.*9C>A (n.*9C>A)
17g.50185494G>ACA772779943COL1A1c.*8C>T (n.*8C>T)
 dbSNP gnomAD v4
17g.50185494G>CCA2576316971COL1A1c.*8C>G (n.*8C>G)
 gnomAD v4
17g.50185494G=CA2263913669COL1A1c.*8C= (n.*8C=)
17g.50185495A=CA2263913670COL1A1c.*7T= (n.*7T=)
17g.50185495A>TCA626485712COL1A1c.*7T>A (n.*7T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185496G>ACA8644163COL1A1c.*6C>T (n.*6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185496G=CA2263913671COL1A1c.*6C= (n.*6C=)
17g.50185497G>ACA772779950COL1A1c.*5C>T (n.*5C>T)
 dbSNP
17g.50185497G=CA2263913672COL1A1c.*5C= (n.*5C=)
17g.50185498G>ACA8644164COL1A1c.*4C>T (n.*4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185498G=CA2263913673COL1A1c.*4C= (n.*4C=)
17g.50185498G>TCA2263913674COL1A1c.*4C>A (n.*4C>A)
 dbSNP
17g.50185500G>ACA2576316972COL1A1c.*2C>T (n.*2C>T)
 gnomAD v4
17g.50185501T>CCA2263913676COL1A1c.*1A>G (n.*1A>G)
 dbSNP
17g.50185501T=CA2263913675COL1A1c.*1A= (n.*1A=)
17g.50185502T>ACA400189746COL1A1c.4395A>T (p.Ter1465Tyr)
c.4125A>T (p.Ter1375Tyr)
c.3477A>T (p.Ter1159Tyr)
c.4197A>T (p.Ter1399Tyr)
17g.50185502T>CCA500842571COL1A1c.4395A>G (p.Ter1465=)
c.4125A>G (p.Ter1375=)
c.3477A>G (p.Ter1159=)
c.4197A>G (p.Ter1399=)
17g.50185502T>GCA400189749COL1A1c.4395A>C (p.Ter1465Tyr)
c.4125A>C (p.Ter1375Tyr)
c.3477A>C (p.Ter1159Tyr)
c.4197A>C (p.Ter1399Tyr)
17g.50185503T>ACA400189752COL1A1c.4394A>T (p.Ter1465Leu)
c.4124A>T (p.Ter1375Leu)
c.3476A>T (p.Ter1159Leu)
c.4196A>T (p.Ter1399Leu)
17g.50185503T>CCA500842579COL1A1c.4394A>G (p.Ter1465=)
c.4124A>G (p.Ter1375=)
c.3476A>G (p.Ter1159=)
c.4196A>G (p.Ter1399=)
17g.50185503T>GCA400189753COL1A1c.4394A>C (p.Ter1465Ser)
c.4124A>C (p.Ter1375Ser)
c.3476A>C (p.Ter1159Ser)
c.4196A>C (p.Ter1399Ser)
17g.50185504A>CCA400189763COL1A1c.4393T>G (p.Ter1465Glu)
c.4123T>G (p.Ter1375Glu)
c.3475T>G (p.Ter1159Glu)
c.4195T>G (p.Ter1399Glu)
17g.50185504A>GCA400189766COL1A1c.4393T>C (p.Ter1465Gln)
c.4123T>C (p.Ter1375Gln)
c.3475T>C (p.Ter1159Gln)
c.4195T>C (p.Ter1399Gln)
17g.50185504A>TCA400189771COL1A1c.4393T>A (p.Ter1465Lys)
c.4123T>A (p.Ter1375Lys)
c.3475T>A (p.Ter1159Lys)
c.4195T>A (p.Ter1399Lys)
17g.50185505C>ACA500842586COL1A1c.4392G>T (p.Leu1464=)
c.4122G>T (p.Leu1374=)
c.3474G>T (p.Leu1158=)
c.4194G>T (p.Leu1398=)
17g.50185505C=CA2263913677COL1A1c.4392G= (p.Leu1464=)
c.4122G= (p.Leu1374=)
c.3474G= (p.Leu1158=)
c.4194G= (p.Leu1398=)
17g.50185505C>GCA500842588COL1A1c.4392G>C (p.Leu1464=)
c.4122G>C (p.Leu1374=)
c.3474G>C (p.Leu1158=)
c.4194G>C (p.Leu1398=)
17g.50185505C>TCA500842591COL1A1c.4392G>A (p.Leu1464=)
c.4122G>A (p.Leu1374=)
c.3474G>A (p.Leu1158=)
c.4194G>A (p.Leu1398=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185506A=CA2263913678COL1A1c.4391T= (p.Leu1464=)
c.4121T= (p.Leu1374=)
c.3473T= (p.Leu1158=)
c.4193T= (p.Leu1398=)
17g.50185506A>CCA400189774COL1A1c.4391T>G (p.Leu1464Arg)
c.4121T>G (p.Leu1374Arg)
c.3473T>G (p.Leu1158Arg)
c.4193T>G (p.Leu1398Arg)
 gnomAD v4
17g.50185506A>GCA257905COL1A1c.4391T>C (p.Leu1464Pro)
c.4121T>C (p.Leu1374Pro)
c.3473T>C (p.Leu1158Pro)
c.4193T>C (p.Leu1398Pro)
 ClinVar dbSNP
17g.50185506A>TCA400189779COL1A1c.4391T>A (p.Leu1464Gln)
c.4121T>A (p.Leu1374Gln)
c.3473T>A (p.Leu1158Gln)
c.4193T>A (p.Leu1398Gln)
17g.50185507G>ACA500842597COL1A1c.4390C>T (p.Leu1464=)
c.4120C>T (p.Leu1374=)
c.3472C>T (p.Leu1158=)
c.4192C>T (p.Leu1398=)
 dbSNP gnomAD v2 gnomAD v4
17g.50185507G>CCA400189784COL1A1c.4390C>G (p.Leu1464Val)
c.4120C>G (p.Leu1374Val)
c.3472C>G (p.Leu1158Val)
c.4192C>G (p.Leu1398Val)
 dbSNP
17g.50185507G=CA2263913679COL1A1c.4390C= (p.Leu1464=)
c.4120C= (p.Leu1374=)
c.3472C= (p.Leu1158=)
c.4192C= (p.Leu1398=)
17g.50185507G>TCA400189787COL1A1c.4390C>A (p.Leu1464Met)
c.4120C>A (p.Leu1374Met)
c.3472C>A (p.Leu1158Met)
c.4192C>A (p.Leu1398Met)
17g.50185508G>ACA500842603COL1A1c.4389C>T (p.Phe1463=)
c.4119C>T (p.Phe1373=)
c.3471C>T (p.Phe1157=)
c.4191C>T (p.Phe1397=)
 COSMIC
17g.50185508G>CCA400189789COL1A1c.4389C>G (p.Phe1463Leu)
c.4119C>G (p.Phe1373Leu)
c.3471C>G (p.Phe1157Leu)
c.4191C>G (p.Phe1397Leu)
17g.50185508G>TCA400189791COL1A1c.4389C>A (p.Phe1463Leu)
c.4119C>A (p.Phe1373Leu)
c.3471C>A (p.Phe1157Leu)
c.4191C>A (p.Phe1397Leu)
17g.50185509A>CCA400189802COL1A1c.4388T>G (p.Phe1463Cys)
c.4118T>G (p.Phe1373Cys)
c.3470T>G (p.Phe1157Cys)
c.4190T>G (p.Phe1397Cys)
17g.50185509A>GCA400189799COL1A1c.4388T>C (p.Phe1463Ser)
c.4118T>C (p.Phe1373Ser)
c.3470T>C (p.Phe1157Ser)
c.4190T>C (p.Phe1397Ser)
17g.50185509A>TCA400189796COL1A1c.4388T>A (p.Phe1463Tyr)
c.4118T>A (p.Phe1373Tyr)
c.3470T>A (p.Phe1157Tyr)
c.4190T>A (p.Phe1397Tyr)
17g.50185510A=CA2263913680COL1A1c.4387T= (p.Phe1463=)
c.4117T= (p.Phe1373=)
c.3469T= (p.Phe1157=)
c.4189T= (p.Phe1397=)
17g.50185510A>CCA400189808COL1A1c.4387T>G (p.Phe1463Val)
c.4117T>G (p.Phe1373Val)
c.3469T>G (p.Phe1157Val)
c.4189T>G (p.Phe1397Val)
17g.50185510A>GCA8644165COL1A1c.4387T>C (p.Phe1463Leu)
c.4117T>C (p.Phe1373Leu)
c.3469T>C (p.Phe1157Leu)
c.4189T>C (p.Phe1397Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185510A>TCA400189805COL1A1c.4387T>A (p.Phe1463Ile)
c.4117T>A (p.Phe1373Ile)
c.3469T>A (p.Phe1157Ile)
c.4189T>A (p.Phe1397Ile)
17g.50185510_50185511delinsAGCA2263913681COL1A1c.4386_4387delinsCT (p.Cys1462=)
c.4116_4117delinsCT (p.Cys1372=)
c.3468_3469delinsCT (p.Cys1156=)
c.4188_4189delinsCT (p.Cys1396=)
17g.50185511delCA645293904COL1A1c.4386del (p.Phe1463SerfsTer?)
c.4116del (p.Phe1373SerfsTer?)
c.3468del (p.Phe1157SerfsTer?)
c.4188del (p.Phe1397SerfsTer?)
 ClinVar dbSNP
17g.50185511G>ACA500842617COL1A1c.4386C>T (p.Cys1462=)
c.4116C>T (p.Cys1372=)
c.3468C>T (p.Cys1156=)
c.4188C>T (p.Cys1396=)
17g.50185511G>CCA400189810COL1A1c.4386C>G (p.Cys1462Trp)
c.4116C>G (p.Cys1372Trp)
c.3468C>G (p.Cys1156Trp)
c.4188C>G (p.Cys1396Trp)
17g.50185511G>TCA400189812COL1A1c.4386C>A (p.Cys1462Ter)
c.4116C>A (p.Cys1372Ter)
c.3468C>A (p.Cys1156Ter)
c.4188C>A (p.Cys1396Ter)
17g.50185512C>ACA400189816COL1A1c.4385G>T (p.Cys1462Phe)
c.4115G>T (p.Cys1372Phe)
c.3467G>T (p.Cys1156Phe)
c.4187G>T (p.Cys1396Phe)
17g.50185512C>GCA400189819COL1A1c.4385G>C (p.Cys1462Ser)
c.4115G>C (p.Cys1372Ser)
c.3467G>C (p.Cys1156Ser)
c.4187G>C (p.Cys1396Ser)
17g.50185512C>TCA400189823COL1A1c.4385G>A (p.Cys1462Tyr)
c.4115G>A (p.Cys1372Tyr)
c.3467G>A (p.Cys1156Tyr)
c.4187G>A (p.Cys1396Tyr)
17g.50185513A>CCA400189828COL1A1c.4384T>G (p.Cys1462Gly)
c.4114T>G (p.Cys1372Gly)
c.3466T>G (p.Cys1156Gly)
c.4186T>G (p.Cys1396Gly)
17g.50185513A>GCA400189833COL1A1c.4384T>C (p.Cys1462Arg)
c.4114T>C (p.Cys1372Arg)
c.3466T>C (p.Cys1156Arg)
c.4186T>C (p.Cys1396Arg)
17g.50185513A>TCA400189829COL1A1c.4384T>A (p.Cys1462Ser)
c.4114T>A (p.Cys1372Ser)
c.3466T>A (p.Cys1156Ser)
c.4186T>A (p.Cys1396Ser)
17g.50185514G>ACA500842630COL1A1c.4383C>T (p.Val1461=)
c.4113C>T (p.Val1371=)
c.3465C>T (p.Val1155=)
c.4185C>T (p.Val1395=)
17g.50185514G>CCA500842632COL1A1c.4383C>G (p.Val1461=)
c.4113C>G (p.Val1371=)
c.3465C>G (p.Val1155=)
c.4185C>G (p.Val1395=)
17g.50185514G=CA2263913682COL1A1c.4383C= (p.Val1461=)
c.4113C= (p.Val1371=)
c.3465C= (p.Val1155=)
c.4185C= (p.Val1395=)
17g.50185514G>TCA8644166COL1A1c.4383C>A (p.Val1461=)
c.4113C>A (p.Val1371=)
c.3465C>A (p.Val1155=)
c.4185C>A (p.Val1395=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185515A=CA2263913683COL1A1c.4382T= (p.Val1461=)
c.4112T= (p.Val1371=)
c.3464T= (p.Val1155=)
c.4184T= (p.Val1395=)
17g.50185515A>CCA400189837COL1A1c.4382T>G (p.Val1461Gly)
c.4112T>G (p.Val1371Gly)
c.3464T>G (p.Val1155Gly)
c.4184T>G (p.Val1395Gly)
17g.50185515A>GCA400189841COL1A1c.4382T>C (p.Val1461Ala)
c.4112T>C (p.Val1371Ala)
c.3464T>C (p.Val1155Ala)
c.4184T>C (p.Val1395Ala)
 dbSNP
17g.50185515A>TCA400189845COL1A1c.4382T>A (p.Val1461Asp)
c.4112T>A (p.Val1371Asp)
c.3464T>A (p.Val1155Asp)
c.4184T>A (p.Val1395Asp)
17g.50185516_50185517delCA2739291001COL1A1c.4381_4382del (p.Val1461LeufsTer?)
c.4111_4112del (p.Val1371LeufsTer?)
c.3463_3464del (p.Val1155LeufsTer?)
c.4183_4184del (p.Val1395LeufsTer?)
17g.50185516C>ACA400189851COL1A1c.4381G>T (p.Val1461Phe)
c.4111G>T (p.Val1371Phe)
c.3463G>T (p.Val1155Phe)
c.4183G>T (p.Val1395Phe)
17g.50185516C=CA2263913684COL1A1c.4381G= (p.Val1461=)
c.4111G= (p.Val1371=)
c.3463G= (p.Val1155=)
c.4183G= (p.Val1395=)
17g.50185516C>GCA400189855COL1A1c.4381G>C (p.Val1461Leu)
c.4111G>C (p.Val1371Leu)
c.3463G>C (p.Val1155Leu)
c.4183G>C (p.Val1395Leu)
17g.50185516C>TCA400189852COL1A1c.4381G>A (p.Val1461Ile)
c.4111G>A (p.Val1371Ile)
c.3463G>A (p.Val1155Ile)
c.4183G>A (p.Val1395Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.50185517A>CCA500842652COL1A1c.4380T>G (p.Pro1460=)
c.4110T>G (p.Pro1370=)
c.3462T>G (p.Pro1154=)
c.4182T>G (p.Pro1394=)
17g.50185517A>GCA500842654COL1A1c.4380T>C (p.Pro1460=)
c.4110T>C (p.Pro1370=)
c.3462T>C (p.Pro1154=)
c.4182T>C (p.Pro1394=)
17g.50185517A>TCA500842656COL1A1c.4380T>A (p.Pro1460=)
c.4110T>A (p.Pro1370=)
c.3462T>A (p.Pro1154=)
c.4182T>A (p.Pro1394=)
17g.50185518G>ACA400189858COL1A1c.4379C>T (p.Pro1460Leu)
c.4109C>T (p.Pro1370Leu)
c.3461C>T (p.Pro1154Leu)
c.4181C>T (p.Pro1394Leu)
 gnomAD v4 COSMIC
17g.50185518G>CCA400189862COL1A1c.4379C>G (p.Pro1460Arg)
c.4109C>G (p.Pro1370Arg)
c.3461C>G (p.Pro1154Arg)
c.4181C>G (p.Pro1394Arg)
17g.50185518G=CA2263913685COL1A1c.4379C= (p.Pro1460=)
c.4109C= (p.Pro1370=)
c.3461C= (p.Pro1154=)
c.4181C= (p.Pro1394=)
17g.50185518G>TCA291542757COL1A1c.4379C>A (p.Pro1460His)
c.4109C>A (p.Pro1370His)
c.3461C>A (p.Pro1154His)
c.4181C>A (p.Pro1394His)
 dbSNP
17g.50185519G>ACA400189867COL1A1c.4378C>T (p.Pro1460Ser)
c.4108C>T (p.Pro1370Ser)
c.3460C>T (p.Pro1154Ser)
c.4180C>T (p.Pro1394Ser)
17g.50185519G>CCA400189870COL1A1c.4378C>G (p.Pro1460Ala)
c.4108C>G (p.Pro1370Ala)
c.3460C>G (p.Pro1154Ala)
c.4180C>G (p.Pro1394Ala)
17g.50185519G>TCA400189874COL1A1c.4378C>A (p.Pro1460Thr)
c.4108C>A (p.Pro1370Thr)
c.3460C>A (p.Pro1154Thr)
c.4180C>A (p.Pro1394Thr)
17g.50185520G>ACA500842667COL1A1c.4377C>T (p.Gly1459=)
c.4107C>T (p.Gly1369=)
c.3459C>T (p.Gly1153=)
c.4179C>T (p.Gly1393=)
17g.50185520G>CCA500842669COL1A1c.4377C>G (p.Gly1459=)
c.4107C>G (p.Gly1369=)
c.3459C>G (p.Gly1153=)
c.4179C>G (p.Gly1393=)
17g.50185520G>TCA500842670COL1A1c.4377C>A (p.Gly1459=)
c.4107C>A (p.Gly1369=)
c.3459C>A (p.Gly1153=)
c.4179C>A (p.Gly1393=)
17g.50185521C>ACA400189877COL1A1c.4376G>T (p.Gly1459Val)
c.4106G>T (p.Gly1369Val)
c.3458G>T (p.Gly1153Val)
c.4178G>T (p.Gly1393Val)
 COSMIC
17g.50185521C=CA2263913686COL1A1c.4376G= (p.Gly1459=)
c.4106G= (p.Gly1369=)
c.3458G= (p.Gly1153=)
c.4178G= (p.Gly1393=)
17g.50185521C>GCA8644167COL1A1c.4376G>C (p.Gly1459Ala)
c.4106G>C (p.Gly1369Ala)
c.3458G>C (p.Gly1153Ala)
c.4178G>C (p.Gly1393Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185521C>TCA400189882COL1A1c.4376G>A (p.Gly1459Asp)
c.4106G>A (p.Gly1369Asp)
c.3458G>A (p.Gly1153Asp)
c.4178G>A (p.Gly1393Asp)
17g.50185522C>ACA400189885COL1A1c.4375G>T (p.Gly1459Cys)
c.4105G>T (p.Gly1369Cys)
c.3457G>T (p.Gly1153Cys)
c.4177G>T (p.Gly1393Cys)
17g.50185522C>GCA400189889COL1A1c.4375G>C (p.Gly1459Arg)
c.4105G>C (p.Gly1369Arg)
c.3457G>C (p.Gly1153Arg)
c.4177G>C (p.Gly1393Arg)
17g.50185522C>TCA400189892COL1A1c.4375G>A (p.Gly1459Ser)
c.4105G>A (p.Gly1369Ser)
c.3457G>A (p.Gly1153Ser)
c.4177G>A (p.Gly1393Ser)
 gnomAD v4
17g.50185523A>CCA500842683COL1A1c.4374T>G (p.Val1458=)
c.4104T>G (p.Val1368=)
c.3456T>G (p.Val1152=)
c.4176T>G (p.Val1392=)
17g.50185523A>GCA500842685COL1A1c.4374T>C (p.Val1458=)
c.4104T>C (p.Val1368=)
c.3456T>C (p.Val1152=)
c.4176T>C (p.Val1392=)
17g.50185523A>TCA500842687COL1A1c.4374T>A (p.Val1458=)
c.4104T>A (p.Val1368=)
c.3456T>A (p.Val1152=)
c.4176T>A (p.Val1392=)
17g.50185524A=CA2263913687COL1A1c.4373T= (p.Val1458=)
c.4103T= (p.Val1368=)
c.3455T= (p.Val1152=)
c.4175T= (p.Val1392=)
17g.50185524A>CCA400189898COL1A1c.4373T>G (p.Val1458Gly)
c.4103T>G (p.Val1368Gly)
c.3455T>G (p.Val1152Gly)
c.4175T>G (p.Val1392Gly)
17g.50185524A>GCA8644168COL1A1c.4373T>C (p.Val1458Ala)
c.4103T>C (p.Val1368Ala)
c.3455T>C (p.Val1152Ala)
c.4175T>C (p.Val1392Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185524A>TCA400189896COL1A1c.4373T>A (p.Val1458Asp)
c.4103T>A (p.Val1368Asp)
c.3455T>A (p.Val1152Asp)
c.4175T>A (p.Val1392Asp)
17g.50185525C>ACA400189900COL1A1c.4372G>T (p.Val1458Phe)
c.4102G>T (p.Val1368Phe)
c.3454G>T (p.Val1152Phe)
c.4174G>T (p.Val1392Phe)
17g.50185525C=CA2263913688COL1A1c.4372G= (p.Val1458=)
c.4102G= (p.Val1368=)
c.3454G= (p.Val1152=)
c.4174G= (p.Val1392=)
17g.50185525C>GCA400189904COL1A1c.4372G>C (p.Val1458Leu)
c.4102G>C (p.Val1368Leu)
c.3454G>C (p.Val1152Leu)
c.4174G>C (p.Val1392Leu)
 ClinVar dbSNP
17g.50185525C>TCA8644169COL1A1c.4372G>A (p.Val1458Ile)
c.4102G>A (p.Val1368Ile)
c.3454G>A (p.Val1152Ile)
c.4174G>A (p.Val1392Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185526G>ACA8644170COL1A1c.4371C>T (p.Asp1457=)
c.4101C>T (p.Asp1367=)
c.3453C>T (p.Asp1151=)
c.4173C>T (p.Asp1391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185526G>CCA8644171COL1A1c.4371C>G (p.Asp1457Glu)
c.4101C>G (p.Asp1367Glu)
c.3453C>G (p.Asp1151Glu)
c.4173C>G (p.Asp1391Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185526G=CA2263913689COL1A1c.4371C= (p.Asp1457=)
c.4101C= (p.Asp1367=)
c.3453C= (p.Asp1151=)
c.4173C= (p.Asp1391=)
17g.50185526G>TCA400189912COL1A1c.4371C>A (p.Asp1457Glu)
c.4101C>A (p.Asp1367Glu)
c.3453C>A (p.Asp1151Glu)
c.4173C>A (p.Asp1391Glu)
17g.50185527T>ACA400189916COL1A1c.4370A>T (p.Asp1457Val)
c.4100A>T (p.Asp1367Val)
c.3452A>T (p.Asp1151Val)
c.4172A>T (p.Asp1391Val)
 dbSNP gnomAD v4
17g.50185527T>CCA400189919COL1A1c.4370A>G (p.Asp1457Gly)
c.4100A>G (p.Asp1367Gly)
c.3452A>G (p.Asp1151Gly)
c.4172A>G (p.Asp1391Gly)
17g.50185527T>GCA400189922COL1A1c.4370A>C (p.Asp1457Ala)
c.4100A>C (p.Asp1367Ala)
c.3452A>C (p.Asp1151Ala)
c.4172A>C (p.Asp1391Ala)
17g.50185527T=CA2263913690COL1A1c.4370A= (p.Asp1457=)
c.4100A= (p.Asp1367=)
c.3452A= (p.Asp1151=)
c.4172A= (p.Asp1391=)
17g.50185528C>ACA400189927COL1A1c.4369G>T (p.Asp1457Tyr)
c.4099G>T (p.Asp1367Tyr)
c.3451G>T (p.Asp1151Tyr)
c.4171G>T (p.Asp1391Tyr)
17g.50185528C=CA2263913691COL1A1c.4369G= (p.Asp1457=)
c.4099G= (p.Asp1367=)
c.3451G= (p.Asp1151=)
c.4171G= (p.Asp1391=)
17g.50185528C>GCA291542758COL1A1c.4369G>C (p.Asp1457His)
c.4099G>C (p.Asp1367His)
c.3451G>C (p.Asp1151His)
c.4171G>C (p.Asp1391His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185528C>TCA8644172COL1A1c.4369G>A (p.Asp1457Asn)
c.4099G>A (p.Asp1367Asn)
c.3451G>A (p.Asp1151Asn)
c.4171G>A (p.Asp1391Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185529G>ACA8644173COL1A1c.4368C>T (p.Phe1456=)
c.4098C>T (p.Phe1366=)
c.3450C>T (p.Phe1150=)
c.4170C>T (p.Phe1390=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185529G>CCA8644174COL1A1c.4368C>G (p.Phe1456Leu)
c.4098C>G (p.Phe1366Leu)
c.3450C>G (p.Phe1150Leu)
c.4170C>G (p.Phe1390Leu)
 ClinVar dbSNP ExAC
17g.50185529G=CA2263913692COL1A1c.4368C= (p.Phe1456=)
c.4098C= (p.Phe1366=)
c.3450C= (p.Phe1150=)
c.4170C= (p.Phe1390=)
17g.50185529G>TCA400189934COL1A1c.4368C>A (p.Phe1456Leu)
c.4098C>A (p.Phe1366Leu)
c.3450C>A (p.Phe1150Leu)
c.4170C>A (p.Phe1390Leu)
 gnomAD v4
17g.50185529_50185530delCA2809756891COL1A1c.4367_4368del (p.Phe1456Ter)
c.4097_4098del (p.Phe1366Ter)
c.3449_3450del (p.Phe1150Ter)
c.4169_4170del (p.Phe1390Ter)
17g.50185530A>CCA400189939COL1A1c.4367T>G (p.Phe1456Cys)
c.4097T>G (p.Phe1366Cys)
c.3449T>G (p.Phe1150Cys)
c.4169T>G (p.Phe1390Cys)
 ClinVar
17g.50185530A>GCA400189943COL1A1c.4367T>C (p.Phe1456Ser)
c.4097T>C (p.Phe1366Ser)
c.3449T>C (p.Phe1150Ser)
c.4169T>C (p.Phe1390Ser)
17g.50185530A>TCA400189941COL1A1c.4367T>A (p.Phe1456Tyr)
c.4097T>A (p.Phe1366Tyr)
c.3449T>A (p.Phe1150Tyr)
c.4169T>A (p.Phe1390Tyr)
17g.50185531A=CA2263913693COL1A1c.4366T= (p.Phe1456=)
c.4096T= (p.Phe1366=)
c.3448T= (p.Phe1150=)
c.4168T= (p.Phe1390=)
17g.50185531A>CCA400189953COL1A1c.4366T>G (p.Phe1456Val)
c.4096T>G (p.Phe1366Val)
c.3448T>G (p.Phe1150Val)
c.4168T>G (p.Phe1390Val)
17g.50185531A>GCA400189958COL1A1c.4366T>C (p.Phe1456Leu)
c.4096T>C (p.Phe1366Leu)
c.3448T>C (p.Phe1150Leu)
c.4168T>C (p.Phe1390Leu)
17g.50185531A>TCA291542759COL1A1c.4366T>A (p.Phe1456Ile)
c.4096T>A (p.Phe1366Ile)
c.3448T>A (p.Phe1150Ile)
c.4168T>A (p.Phe1390Ile)
 dbSNP gnomAD v4
17g.50185532G>ACA500842726COL1A1c.4365C>T (p.Gly1455=)
c.4095C>T (p.Gly1365=)
c.3447C>T (p.Gly1149=)
c.4167C>T (p.Gly1389=)
17g.50185532G>CCA500842724COL1A1c.4365C>G (p.Gly1455=)
c.4095C>G (p.Gly1365=)
c.3447C>G (p.Gly1149=)
c.4167C>G (p.Gly1389=)
17g.50185532G=CA2263913694COL1A1c.4365C= (p.Gly1455=)
c.4095C= (p.Gly1365=)
c.3447C= (p.Gly1149=)
c.4167C= (p.Gly1389=)
17g.50185532G>TCA500842722COL1A1c.4365C>A (p.Gly1455=)
c.4095C>A (p.Gly1365=)
c.3447C>A (p.Gly1149=)
c.4167C>A (p.Gly1389=)
 dbSNP
17g.50185533C>ACA400189963COL1A1c.4364G>T (p.Gly1455Val)
c.4094G>T (p.Gly1365Val)
c.3446G>T (p.Gly1149Val)
c.4166G>T (p.Gly1389Val)
17g.50185533C=CA2263913695COL1A1c.4364G= (p.Gly1455=)
c.4094G= (p.Gly1365=)
c.3446G= (p.Gly1149=)
c.4166G= (p.Gly1389=)
17g.50185533C>GCA400189966COL1A1c.4364G>C (p.Gly1455Ala)
c.4094G>C (p.Gly1365Ala)
c.3446G>C (p.Gly1149Ala)
c.4166G>C (p.Gly1389Ala)
 dbSNP gnomAD v4
17g.50185533C>TCA400189973COL1A1c.4364G>A (p.Gly1455Asp)
c.4094G>A (p.Gly1365Asp)
c.3446G>A (p.Gly1149Asp)
c.4166G>A (p.Gly1389Asp)
17g.50185533_50185558delCA2695226404COL1A1c.4339_4364del (p.Val1447LeufsTer?)
c.4069_4094del (p.Val1357LeufsTer?)
c.3421_3446del (p.Val1141LeufsTer?)
c.4141_4166del (p.Val1381LeufsTer?)
17g.50185534C>ACA400189977COL1A1c.4363G>T (p.Gly1455Cys)
c.4093G>T (p.Gly1365Cys)
c.3445G>T (p.Gly1149Cys)
c.4165G>T (p.Gly1389Cys)
17g.50185534C=CA2263913697COL1A1c.4363G= (p.Gly1455=)
c.4093G= (p.Gly1365=)
c.3445G= (p.Gly1149=)
c.4165G= (p.Gly1389=)
17g.50185534C>GCA400189979COL1A1c.4363G>C (p.Gly1455Arg)
c.4093G>C (p.Gly1365Arg)
c.3445G>C (p.Gly1149Arg)
c.4165G>C (p.Gly1389Arg)
 dbSNP gnomAD v4
17g.50185534C>TCA291542760COL1A1c.4363G>A (p.Gly1455Ser)
c.4093G>A (p.Gly1365Ser)
c.3445G>A (p.Gly1149Ser)
c.4165G>A (p.Gly1389Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185534_50185539delinsCGAATTCA2263913696COL1A1c.4358_4363delinsAATTCG (p.Glu1453=)
c.4088_4093delinsAATTCG (p.Glu1363=)
c.3440_3445delinsAATTCG (p.Glu1147=)
c.4160_4165delinsAATTCG (p.Glu1387=)
17g.50185535G>ACA8644175COL1A1c.4362C>T (p.Phe1454=)
c.4092C>T (p.Phe1364=)
c.3444C>T (p.Phe1148=)
c.4164C>T (p.Phe1388=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.50185535G>CCA400189998COL1A1c.4362C>G (p.Phe1454Leu)
c.4092C>G (p.Phe1364Leu)
c.3444C>G (p.Phe1148Leu)
c.4164C>G (p.Phe1388Leu)
17g.50185535G=CA2263913698COL1A1c.4362C= (p.Phe1454=)
c.4092C= (p.Phe1364=)
c.3444C= (p.Phe1148=)
c.4164C= (p.Phe1388=)
17g.50185535G>TCA400189992COL1A1c.4362C>A (p.Phe1454Leu)
c.4092C>A (p.Phe1364Leu)
c.3444C>A (p.Phe1148Leu)
c.4164C>A (p.Phe1388Leu)
17g.50185535_50185539delCA281085COL1A1c.4358_4362del (p.Glu1453GlyfsTer?)
c.4088_4092del (p.Glu1363GlyfsTer?)
c.3440_3444del (p.Glu1147GlyfsTer?)
c.4160_4164del (p.Glu1387GlyfsTer?)
 ClinVar dbSNP
17g.50185536A>CCA400190003COL1A1c.4361T>G (p.Phe1454Cys)
c.4091T>G (p.Phe1364Cys)
c.3443T>G (p.Phe1148Cys)
c.4163T>G (p.Phe1388Cys)
17g.50185536A>GCA400190010COL1A1c.4361T>C (p.Phe1454Ser)
c.4091T>C (p.Phe1364Ser)
c.3443T>C (p.Phe1148Ser)
c.4163T>C (p.Phe1388Ser)
 ClinVar dbSNP
17g.50185536A>TCA400190011COL1A1c.4361T>A (p.Phe1454Tyr)
c.4091T>A (p.Phe1364Tyr)
c.3443T>A (p.Phe1148Tyr)
c.4163T>A (p.Phe1388Tyr)
17g.50185536_50185540delCA2695226407COL1A1c.4357_4361del (p.Glu1453ArgfsTer?)
c.4087_4091del (p.Glu1363ArgfsTer?)
c.3439_3443del (p.Glu1147ArgfsTer?)
c.4159_4163del (p.Glu1387ArgfsTer?)
17g.50185537A>CCA400190012COL1A1c.4360T>G (p.Phe1454Val)
c.4090T>G (p.Phe1364Val)
c.3442T>G (p.Phe1148Val)
c.4162T>G (p.Phe1388Val)
17g.50185537A>GCA400190013COL1A1c.4360T>C (p.Phe1454Leu)
c.4090T>C (p.Phe1364Leu)
c.3442T>C (p.Phe1148Leu)
c.4162T>C (p.Phe1388Leu)
17g.50185537A>TCA400190014COL1A1c.4360T>A (p.Phe1454Ile)
c.4090T>A (p.Phe1364Ile)
c.3442T>A (p.Phe1148Ile)
c.4162T>A (p.Phe1388Ile)
17g.50185538T>ACA400190019COL1A1c.4359A>T (p.Glu1453Asp)
c.4089A>T (p.Glu1363Asp)
c.3441A>T (p.Glu1147Asp)
c.4161A>T (p.Glu1387Asp)
17g.50185538T>CCA500842757COL1A1c.4359A>G (p.Glu1453=)
c.4089A>G (p.Glu1363=)
c.3441A>G (p.Glu1147=)
c.4161A>G (p.Glu1387=)
17g.50185538T>GCA400190022COL1A1c.4359A>C (p.Glu1453Asp)
c.4089A>C (p.Glu1363Asp)
c.3441A>C (p.Glu1147Asp)
c.4161A>C (p.Glu1387Asp)
17g.50185539_50185542dupCA2580094158COL1A1c.4356_4359dup (p.Phe1454GlyfsTer?)
c.4086_4089dup (p.Phe1364GlyfsTer?)
c.3438_3441dup (p.Phe1148GlyfsTer?)
c.4158_4161dup (p.Phe1388GlyfsTer?)
 ClinVar
17g.50185539T>ACA400190028COL1A1c.4358A>T (p.Glu1453Val)
c.4088A>T (p.Glu1363Val)
c.3440A>T (p.Glu1147Val)
c.4160A>T (p.Glu1387Val)
17g.50185539T>CCA400190030COL1A1c.4358A>G (p.Glu1453Gly)
c.4088A>G (p.Glu1363Gly)
c.3440A>G (p.Glu1147Gly)
c.4160A>G (p.Glu1387Gly)
17g.50185539T>GCA400190033COL1A1c.4358A>C (p.Glu1453Ala)
c.4088A>C (p.Glu1363Ala)
c.3440A>C (p.Glu1147Ala)
c.4160A>C (p.Glu1387Ala)
17g.50185540C>ACA400190039COL1A1c.4357G>T (p.Glu1453Ter)
c.4087G>T (p.Glu1363Ter)
c.3439G>T (p.Glu1147Ter)
c.4159G>T (p.Glu1387Ter)
17g.50185540C>GCA400190049COL1A1c.4357G>C (p.Glu1453Gln)
c.4087G>C (p.Glu1363Gln)
c.3439G>C (p.Glu1147Gln)
c.4159G>C (p.Glu1387Gln)
17g.50185540C>TCA400190037COL1A1c.4357G>A (p.Glu1453Lys)
c.4087G>A (p.Glu1363Lys)
c.3439G>A (p.Glu1147Lys)
c.4159G>A (p.Glu1387Lys)
 gnomAD v4
17g.50185541C>ACA400190055COL1A1c.4356G>T (p.Gln1452His)
c.4086G>T (p.Gln1362His)
c.3438G>T (p.Gln1146His)
c.4158G>T (p.Gln1386His)
17g.50185541C=CA2263913699COL1A1c.4356G= (p.Gln1452=)
c.4086G= (p.Gln1362=)
c.3438G= (p.Gln1146=)
c.4158G= (p.Gln1386=)
17g.50185541C>GCA400190059COL1A1c.4356G>C (p.Gln1452His)
c.4086G>C (p.Gln1362His)
c.3438G>C (p.Gln1146His)
c.4158G>C (p.Gln1386His)
17g.50185541C>TCA8644176COL1A1c.4356G>A (p.Gln1452=)
c.4086G>A (p.Gln1362=)
c.3438G>A (p.Gln1146=)
c.4158G>A (p.Gln1386=)
 ClinVar dbSNP ExAC gnomAD v2
17g.50185545_50185549delCA2580094159COL1A1c.4352_4356del (p.Asp1451GlyfsTer?)
c.4082_4086del (p.Asp1361GlyfsTer?)
c.3434_3438del (p.Asp1145GlyfsTer?)
c.4154_4158del (p.Asp1385GlyfsTer?)
 ClinVar
17g.50185542T>ACA400190072COL1A1c.4355A>T (p.Gln1452Leu)
c.4085A>T (p.Gln1362Leu)
c.3437A>T (p.Gln1146Leu)
c.4157A>T (p.Gln1386Leu)
17g.50185542T>CCA400190073COL1A1c.4355A>G (p.Gln1452Arg)
c.4085A>G (p.Gln1362Arg)
c.3437A>G (p.Gln1146Arg)
c.4157A>G (p.Gln1386Arg)
17g.50185542T>GCA400190078COL1A1c.4355A>C (p.Gln1452Pro)
c.4085A>C (p.Gln1362Pro)
c.3437A>C (p.Gln1146Pro)
c.4157A>C (p.Gln1386Pro)
17g.50185543G>ACA400190082COL1A1c.4354C>T (p.Gln1452Ter)
c.4084C>T (p.Gln1362Ter)
c.3436C>T (p.Gln1146Ter)
c.4156C>T (p.Gln1386Ter)
17g.50185543G>CCA400190090COL1A1c.4354C>G (p.Gln1452Glu)
c.4084C>G (p.Gln1362Glu)
c.3436C>G (p.Gln1146Glu)
c.4156C>G (p.Gln1386Glu)
17g.50185543G>TCA400190085COL1A1c.4354C>A (p.Gln1452Lys)
c.4084C>A (p.Gln1362Lys)
c.3436C>A (p.Gln1146Lys)
c.4156C>A (p.Gln1386Lys)
17g.50185544G>ACA500842781COL1A1c.4353C>T (p.Asp1451=)
c.4083C>T (p.Asp1361=)
c.3435C>T (p.Asp1145=)
c.4155C>T (p.Asp1385=)
 gnomAD v4
17g.50185544G>CCA400190096COL1A1c.4353C>G (p.Asp1451Glu)
c.4083C>G (p.Asp1361Glu)
c.3435C>G (p.Asp1145Glu)
c.4155C>G (p.Asp1385Glu)
17g.50185544G>TCA400190102COL1A1c.4353C>A (p.Asp1451Glu)
c.4083C>A (p.Asp1361Glu)
c.3435C>A (p.Asp1145Glu)
c.4155C>A (p.Asp1385Glu)
17g.50185545T>ACA400190106COL1A1c.4352A>T (p.Asp1451Val)
c.4082A>T (p.Asp1361Val)
c.3434A>T (p.Asp1145Val)
c.4154A>T (p.Asp1385Val)
 gnomAD v4
17g.50185545T>CCA400190110COL1A1c.4352A>G (p.Asp1451Gly)
c.4082A>G (p.Asp1361Gly)
c.3434A>G (p.Asp1145Gly)
c.4154A>G (p.Asp1385Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185545T>GCA400190114COL1A1c.4352A>C (p.Asp1451Ala)
c.4082A>C (p.Asp1361Ala)
c.3434A>C (p.Asp1145Ala)
c.4154A>C (p.Asp1385Ala)
17g.50185545T=CA2263913700COL1A1c.4352A= (p.Asp1451=)
c.4082A= (p.Asp1361=)
c.3434A= (p.Asp1145=)
c.4154A= (p.Asp1385=)
17g.50185545dupCA2695226408COL1A1c.4352dup (p.Asp1451GlufsTer?)
c.4082dup (p.Asp1361GlufsTer?)
c.3434dup (p.Asp1145GlufsTer?)
c.4154dup (p.Asp1385GlufsTer?)
17g.50185546C>ACA400190135COL1A1c.4351G>T (p.Asp1451Tyr)
c.4081G>T (p.Asp1361Tyr)
c.3433G>T (p.Asp1145Tyr)
c.4153G>T (p.Asp1385Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185546C=CA2263913701COL1A1c.4351G= (p.Asp1451=)
c.4081G= (p.Asp1361=)
c.3433G= (p.Asp1145=)
c.4153G= (p.Asp1385=)
17g.50185546C>GCA400190132COL1A1c.4351G>C (p.Asp1451His)
c.4081G>C (p.Asp1361His)
c.3433G>C (p.Asp1145His)
c.4153G>C (p.Asp1385His)
17g.50185546C>TCA400190128COL1A1c.4351G>A (p.Asp1451Asn)
c.4081G>A (p.Asp1361Asn)
c.3433G>A (p.Asp1145Asn)
c.4153G>A (p.Asp1385Asn)
17g.50185547T>ACA500842801COL1A1c.4350A>T (p.Pro1450=)
c.4080A>T (p.Pro1360=)
c.3432A>T (p.Pro1144=)
c.4152A>T (p.Pro1384=)
17g.50185547T>CCA500842800COL1A1c.4350A>G (p.Pro1450=)
c.4080A>G (p.Pro1360=)
c.3432A>G (p.Pro1144=)
c.4152A>G (p.Pro1384=)
 gnomAD v4
17g.50185547T>GCA500842793COL1A1c.4350A>C (p.Pro1450=)
c.4080A>C (p.Pro1360=)
c.3432A>C (p.Pro1144=)
c.4152A>C (p.Pro1384=)
17g.50185548G>ACA400190146COL1A1c.4349C>T (p.Pro1450Leu)
c.4079C>T (p.Pro1360Leu)
c.3431C>T (p.Pro1144Leu)
c.4151C>T (p.Pro1384Leu)
 gnomAD v4
17g.50185548G>CCA400190143COL1A1c.4349C>G (p.Pro1450Arg)
c.4079C>G (p.Pro1360Arg)
c.3431C>G (p.Pro1144Arg)
c.4151C>G (p.Pro1384Arg)
17g.50185548G>TCA400190148COL1A1c.4349C>A (p.Pro1450Gln)
c.4079C>A (p.Pro1360Gln)
c.3431C>A (p.Pro1144Gln)
c.4151C>A (p.Pro1384Gln)
17g.50185549G>ACA400190155COL1A1c.4348C>T (p.Pro1450Ser)
c.4078C>T (p.Pro1360Ser)
c.3430C>T (p.Pro1144Ser)
c.4150C>T (p.Pro1384Ser)
17g.50185549G>CCA400190170COL1A1c.4348C>G (p.Pro1450Ala)
c.4078C>G (p.Pro1360Ala)
c.3430C>G (p.Pro1144Ala)
c.4150C>G (p.Pro1384Ala)
17g.50185549G>TCA400190169COL1A1c.4348C>A (p.Pro1450Thr)
c.4078C>A (p.Pro1360Thr)
c.3430C>A (p.Pro1144Thr)
c.4150C>A (p.Pro1384Thr)
17g.50185549_50185572delinsGGGCACCAACGTCCAAGGGGGCCACA2263913702COL1A1c.4325_4348delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1442=)
c.4055_4078delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1352=)
c.3407_3430delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1136=)
c.4127_4150delinsTGGCCCCCTTGGACGTTGGTGCCC (p.Val1376=)
17g.50185550G>ACA291542761COL1A1c.4347C>T (p.Ala1449=)
c.4077C>T (p.Ala1359=)
c.3429C>T (p.Ala1143=)
c.4149C>T (p.Ala1383=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185550G>CCA500842812COL1A1c.4347C>G (p.Ala1449=)
c.4077C>G (p.Ala1359=)
c.3429C>G (p.Ala1143=)
c.4149C>G (p.Ala1383=)
17g.50185550G=CA2263913703COL1A1c.4347C= (p.Ala1449=)
c.4077C= (p.Ala1359=)
c.3429C= (p.Ala1143=)
c.4149C= (p.Ala1383=)
17g.50185550G>TCA500842814COL1A1c.4347C>A (p.Ala1449=)
c.4077C>A (p.Ala1359=)
c.3429C>A (p.Ala1143=)
c.4149C>A (p.Ala1383=)
 dbSNP
17g.50185550_50185572delCA916080908COL1A1c.4325_4347del (p.Val1442AlafsTer?)
c.4055_4077del (p.Val1352AlafsTer?)
c.3407_3429del (p.Val1136AlafsTer?)
c.4127_4149del (p.Val1376AlafsTer?)
 ClinVar dbSNP
17g.50185551G>ACA400190173COL1A1c.4346C>T (p.Ala1449Val)
c.4076C>T (p.Ala1359Val)
c.3428C>T (p.Ala1143Val)
c.4148C>T (p.Ala1383Val)
 gnomAD v4
17g.50185551G>CCA400190176COL1A1c.4346C>G (p.Ala1449Gly)
c.4076C>G (p.Ala1359Gly)
c.3428C>G (p.Ala1143Gly)
c.4148C>G (p.Ala1383Gly)
17g.50185551G=CA2263913704COL1A1c.4346C= (p.Ala1449=)
c.4076C= (p.Ala1359=)
c.3428C= (p.Ala1143=)
c.4148C= (p.Ala1383=)
17g.50185551G>TCA400190180COL1A1c.4346C>A (p.Ala1449Asp)
c.4076C>A (p.Ala1359Asp)
c.3428C>A (p.Ala1143Asp)
c.4148C>A (p.Ala1383Asp)
 dbSNP COSMIC
17g.50185552C>ACA400190185COL1A1c.4345G>T (p.Ala1449Ser)
c.4075G>T (p.Ala1359Ser)
c.3427G>T (p.Ala1143Ser)
c.4147G>T (p.Ala1383Ser)
 gnomAD v4
17g.50185552C>GCA400190191COL1A1c.4345G>C (p.Ala1449Pro)
c.4075G>C (p.Ala1359Pro)
c.3427G>C (p.Ala1143Pro)
c.4147G>C (p.Ala1383Pro)
17g.50185552C>TCA400190195COL1A1c.4345G>A (p.Ala1449Thr)
c.4075G>A (p.Ala1359Thr)
c.3427G>A (p.Ala1143Thr)
c.4147G>A (p.Ala1383Thr)
 gnomAD v4
17g.50185553A>CCA500842827COL1A1c.4344T>G (p.Gly1448=)
c.4074T>G (p.Gly1358=)
c.3426T>G (p.Gly1142=)
c.4146T>G (p.Gly1382=)
17g.50185553A>GCA500842830COL1A1c.4344T>C (p.Gly1448=)
c.4074T>C (p.Gly1358=)
c.3426T>C (p.Gly1142=)
c.4146T>C (p.Gly1382=)
17g.50185553A>TCA500842829COL1A1c.4344T>A (p.Gly1448=)
c.4074T>A (p.Gly1358=)
c.3426T>A (p.Gly1142=)
c.4146T>A (p.Gly1382=)
17g.50185554C>ACA400190200COL1A1c.4343G>T (p.Gly1448Val)
c.4073G>T (p.Gly1358Val)
c.3425G>T (p.Gly1142Val)
c.4145G>T (p.Gly1382Val)
17g.50185554C>GCA400190204COL1A1c.4343G>C (p.Gly1448Ala)
c.4073G>C (p.Gly1358Ala)
c.3425G>C (p.Gly1142Ala)
c.4145G>C (p.Gly1382Ala)
17g.50185554C>TCA400190207COL1A1c.4343G>A (p.Gly1448Asp)
c.4073G>A (p.Gly1358Asp)
c.3425G>A (p.Gly1142Asp)
c.4145G>A (p.Gly1382Asp)
 ClinVar dbSNP
17g.50185555C>ACA400190212COL1A1c.4342G>T (p.Gly1448Cys)
c.4072G>T (p.Gly1358Cys)
c.3424G>T (p.Gly1142Cys)
c.4144G>T (p.Gly1382Cys)
17g.50185555C>GCA400190214COL1A1c.4342G>C (p.Gly1448Arg)
c.4072G>C (p.Gly1358Arg)
c.3424G>C (p.Gly1142Arg)
c.4144G>C (p.Gly1382Arg)
 ClinVar
17g.50185555C>TCA400190216COL1A1c.4342G>A (p.Gly1448Ser)
c.4072G>A (p.Gly1358Ser)
c.3424G>A (p.Gly1142Ser)
c.4144G>A (p.Gly1382Ser)
17g.50185556A=CA2263913705COL1A1c.4341T= (p.Val1447=)
c.4071T= (p.Val1357=)
c.3423T= (p.Val1141=)
c.4143T= (p.Val1381=)
17g.50185556A>CCA500842845COL1A1c.4341T>G (p.Val1447=)
c.4071T>G (p.Val1357=)
c.3423T>G (p.Val1141=)
c.4143T>G (p.Val1381=)
17g.50185556A>GCA500842847COL1A1c.4341T>C (p.Val1447=)
c.4071T>C (p.Val1357=)
c.3423T>C (p.Val1141=)
c.4143T>C (p.Val1381=)
17g.50185556A>TCA500842850COL1A1c.4341T>A (p.Val1447=)
c.4071T>A (p.Val1357=)
c.3423T>A (p.Val1141=)
c.4143T>A (p.Val1381=)
 dbSNP
17g.50185557A=CA2263913706COL1A1c.4340T= (p.Val1447=)
c.4070T= (p.Val1357=)
c.3422T= (p.Val1141=)
c.4142T= (p.Val1381=)
17g.50185557A>CCA400190220COL1A1c.4340T>G (p.Val1447Gly)
c.4070T>G (p.Val1357Gly)
c.3422T>G (p.Val1141Gly)
c.4142T>G (p.Val1381Gly)
 ClinVar dbSNP
17g.50185557A>GCA291542762COL1A1c.4340T>C (p.Val1447Ala)
c.4070T>C (p.Val1357Ala)
c.3422T>C (p.Val1141Ala)
c.4142T>C (p.Val1381Ala)
 dbSNP gnomAD v4
17g.50185557A>TCA400190223COL1A1c.4340T>A (p.Val1447Asp)
c.4070T>A (p.Val1357Asp)
c.3422T>A (p.Val1141Asp)
c.4142T>A (p.Val1381Asp)
17g.50185557_50185558delinsACCA2263913707COL1A1c.4339_4340delinsGT (p.Val1447=)
c.4069_4070delinsGT (p.Val1357=)
c.3421_3422delinsGT (p.Val1141=)
c.4141_4142delinsGT (p.Val1381=)
17g.50185557_50185568delinsGACCTGGTCTCA2695226410COL1A1c.4329_4340delinsAGACCAGGTC (p.Pro1444AspfsTer?)
c.4059_4070delinsAGACCAGGTC (p.Pro1354AspfsTer?)
c.3411_3422delinsAGACCAGGTC (p.Pro1138AspfsTer?)
c.4131_4142delinsAGACCAGGTC (p.Pro1378AspfsTer?)
17g.50185558delCA891863028COL1A1c.4339del (p.Val1447LeufsTer?)
c.4069del (p.Val1357LeufsTer?)
c.3421del (p.Val1141LeufsTer?)
c.4141del (p.Val1381LeufsTer?)
 ClinVar dbSNP
17g.50185558C>ACA8644178COL1A1c.4339G>T (p.Val1447Phe)
c.4069G>T (p.Val1357Phe)
c.3421G>T (p.Val1141Phe)
c.4141G>T (p.Val1381Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185558C=CA2263913708COL1A1c.4339G= (p.Val1447=)
c.4069G= (p.Val1357=)
c.3421G= (p.Val1141=)
c.4141G= (p.Val1381=)
17g.50185558C>GCA400190236COL1A1c.4339G>C (p.Val1447Leu)
c.4069G>C (p.Val1357Leu)
c.3421G>C (p.Val1141Leu)
c.4141G>C (p.Val1381Leu)
 gnomAD v4
17g.50185558C>TCA8644177COL1A1c.4339G>A (p.Val1447Ile)
c.4069G>A (p.Val1357Ile)
c.3421G>A (p.Val1141Ile)
c.4141G>A (p.Val1381Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185559G>ACA8644179COL1A1c.4338C>T (p.Asp1446=)
c.4068C>T (p.Asp1356=)
c.3420C>T (p.Asp1140=)
c.4140C>T (p.Asp1380=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185559G>CCA400190237COL1A1c.4338C>G (p.Asp1446Glu)
c.4068C>G (p.Asp1356Glu)
c.3420C>G (p.Asp1140Glu)
c.4140C>G (p.Asp1380Glu)
 ClinVar
17g.50185559G=CA2263913709COL1A1c.4338C= (p.Asp1446=)
c.4068C= (p.Asp1356=)
c.3420C= (p.Asp1140=)
c.4140C= (p.Asp1380=)
17g.50185559G>TCA400190238COL1A1c.4338C>A (p.Asp1446Glu)
c.4068C>A (p.Asp1356Glu)
c.3420C>A (p.Asp1140Glu)
c.4140C>A (p.Asp1380Glu)
17g.50185559dupCA2695226412COL1A1c.4338dup (p.Val1447ArgfsTer?)
c.4068dup (p.Val1357ArgfsTer?)
c.3420dup (p.Val1141ArgfsTer?)
c.4140dup (p.Val1381ArgfsTer?)
17g.50185559_50185574dupCA2695226413COL1A1c.4323_4338dup (p.Val1447CysfsTer?)
c.4053_4068dup (p.Val1357CysfsTer?)
c.3405_3420dup (p.Val1141CysfsTer?)
c.4125_4140dup (p.Val1381CysfsTer?)
17g.50185560T>ACA400190240COL1A1c.4337A>T (p.Asp1446Val)
c.4067A>T (p.Asp1356Val)
c.3419A>T (p.Asp1140Val)
c.4139A>T (p.Asp1380Val)
17g.50185560T>CCA400190243COL1A1c.4337A>G (p.Asp1446Gly)
c.4067A>G (p.Asp1356Gly)
c.3419A>G (p.Asp1140Gly)
c.4139A>G (p.Asp1380Gly)
17g.50185560T>GCA400190252COL1A1c.4337A>C (p.Asp1446Ala)
c.4067A>C (p.Asp1356Ala)
c.3419A>C (p.Asp1140Ala)
c.4139A>C (p.Asp1380Ala)
17g.50185560_50185562delinsTCCCA2263913710COL1A1c.4335_4337delinsGGA (p.Leu1445=)
c.4065_4067delinsGGA (p.Leu1355=)
c.3417_3419delinsGGA (p.Leu1139=)
c.4137_4139delinsGGA (p.Leu1379=)
17g.50185561C>ACA400190259COL1A1c.4336G>T (p.Asp1446Tyr)
c.4066G>T (p.Asp1356Tyr)
c.3418G>T (p.Asp1140Tyr)
c.4138G>T (p.Asp1380Tyr)
17g.50185561C>GCA400190264COL1A1c.4336G>C (p.Asp1446His)
c.4066G>C (p.Asp1356His)
c.3418G>C (p.Asp1140His)
c.4138G>C (p.Asp1380His)
17g.50185561C>TCA400190256COL1A1c.4336G>A (p.Asp1446Asn)
c.4066G>A (p.Asp1356Asn)
c.3418G>A (p.Asp1140Asn)
c.4138G>A (p.Asp1380Asn)
17g.50185561_50185562delCA984452221COL1A1c.4335_4336del (p.Asp1446ArgfsTer?)
c.4065_4066del (p.Asp1356ArgfsTer?)
c.3417_3418del (p.Asp1140ArgfsTer?)
c.4137_4138del (p.Asp1380ArgfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185562C>ACA400190269COL1A1c.4335G>T (p.Leu1445Phe)
c.4065G>T (p.Leu1355Phe)
c.3417G>T (p.Leu1139Phe)
c.4137G>T (p.Leu1379Phe)
17g.50185562C>GCA400190273COL1A1c.4335G>C (p.Leu1445Phe)
c.4065G>C (p.Leu1355Phe)
c.3417G>C (p.Leu1139Phe)
c.4137G>C (p.Leu1379Phe)
17g.50185562C>TCA500842869COL1A1c.4335G>A (p.Leu1445=)
c.4065G>A (p.Leu1355=)
c.3417G>A (p.Leu1139=)
c.4137G>A (p.Leu1379=)
17g.50185563A>CCA400190277COL1A1c.4334T>G (p.Leu1445Trp)
c.4064T>G (p.Leu1355Trp)
c.3416T>G (p.Leu1139Trp)
c.4136T>G (p.Leu1379Trp)
17g.50185563A>GCA400190279COL1A1c.4334T>C (p.Leu1445Ser)
c.4064T>C (p.Leu1355Ser)
c.3416T>C (p.Leu1139Ser)
c.4136T>C (p.Leu1379Ser)
 ClinVar
17g.50185563A>TCA400190282COL1A1c.4334T>A (p.Leu1445Ter)
c.4064T>A (p.Leu1355Ter)
c.3416T>A (p.Leu1139Ter)
c.4136T>A (p.Leu1379Ter)
17g.50185564A=CA2263913711COL1A1c.4333T= (p.Leu1445=)
c.4063T= (p.Leu1355=)
c.3415T= (p.Leu1139=)
c.4135T= (p.Leu1379=)
17g.50185564A>CCA400190289COL1A1c.4333T>G (p.Leu1445Val)
c.4063T>G (p.Leu1355Val)
c.3415T>G (p.Leu1139Val)
c.4135T>G (p.Leu1379Val)
 gnomAD v4
17g.50185564A>GCA500991345COL1A1c.4333T>C (p.Leu1445=)
c.4063T>C (p.Leu1355=)
c.3415T>C (p.Leu1139=)
c.4135T>C (p.Leu1379=)
 gnomAD v4
17g.50185564A>TCA400190284COL1A1c.4333T>A (p.Leu1445Met)
c.4063T>A (p.Leu1355Met)
c.3415T>A (p.Leu1139Met)
c.4135T>A (p.Leu1379Met)
17g.50185565G>ACA500991349COL1A1c.4332C>T (p.Pro1444=)
c.4062C>T (p.Pro1354=)
c.3414C>T (p.Pro1138=)
c.4134C>T (p.Pro1378=)
 gnomAD v4 COSMIC
17g.50185565G>CCA500991350COL1A1c.4332C>G (p.Pro1444=)
c.4062C>G (p.Pro1354=)
c.3414C>G (p.Pro1138=)
c.4134C>G (p.Pro1378=)
 gnomAD v4
17g.50185565G>TCA500991351COL1A1c.4332C>A (p.Pro1444=)
c.4062C>A (p.Pro1354=)
c.3414C>A (p.Pro1138=)
c.4134C>A (p.Pro1378=)
17g.50185569dupCA645294098COL1A1c.4332dup (p.Asp1446GlyfsTer?)
c.4062dup (p.Asp1356GlyfsTer?)
c.3414dup (p.Asp1140GlyfsTer?)
c.4134dup (p.Asp1380GlyfsTer?)
 ClinVar dbSNP
17g.50185566_50185569dupCA658798885COL1A1c.4329_4332dup (p.Leu1445ProfsTer?)
c.4059_4062dup (p.Leu1355ProfsTer?)
c.3411_3414dup (p.Leu1139ProfsTer?)
c.4131_4134dup (p.Leu1379ProfsTer?)
 ClinVar dbSNP
17g.50185569delCA2580094160COL1A1c.4332del (p.Leu1445TrpfsTer?)
c.4062del (p.Leu1355TrpfsTer?)
c.3414del (p.Leu1139TrpfsTer?)
c.4134del (p.Leu1379TrpfsTer?)
 ClinVar dbSNP
17g.50185566G>ACA400190291COL1A1c.4331C>T (p.Pro1444Leu)
c.4061C>T (p.Pro1354Leu)
c.3413C>T (p.Pro1138Leu)
c.4133C>T (p.Pro1378Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.50185566G>CCA400190292COL1A1c.4331C>G (p.Pro1444Arg)
c.4061C>G (p.Pro1354Arg)
c.3413C>G (p.Pro1138Arg)
c.4133C>G (p.Pro1378Arg)
17g.50185566G=CA2263913712COL1A1c.4331C= (p.Pro1444=)
c.4061C= (p.Pro1354=)
c.3413C= (p.Pro1138=)
c.4133C= (p.Pro1378=)
17g.50185566G>TCA400190295COL1A1c.4331C>A (p.Pro1444His)
c.4061C>A (p.Pro1354His)
c.3413C>A (p.Pro1138His)
c.4133C>A (p.Pro1378His)
17g.50185567G>ACA400190299COL1A1c.4330C>T (p.Pro1444Ser)
c.4060C>T (p.Pro1354Ser)
c.3412C>T (p.Pro1138Ser)
c.4132C>T (p.Pro1378Ser)
17g.50185567G>CCA400190303COL1A1c.4330C>G (p.Pro1444Ala)
c.4060C>G (p.Pro1354Ala)
c.3412C>G (p.Pro1138Ala)
c.4132C>G (p.Pro1378Ala)
17g.50185567G>TCA400190305COL1A1c.4330C>A (p.Pro1444Thr)
c.4060C>A (p.Pro1354Thr)
c.3412C>A (p.Pro1138Thr)
c.4132C>A (p.Pro1378Thr)
17g.50185576_50185577insCTTGGGCCACATCCA2695226415COL1A1c.4330_4331insAAGGATGTGGCCC (p.Pro1444GlnfsTer?)
c.4060_4061insAAGGATGTGGCCC (p.Pro1354GlnfsTer?)
c.3412_3413insAAGGATGTGGCCC (p.Pro1138GlnfsTer?)
c.4132_4133insAAGGATGTGGCCC (p.Pro1378GlnfsTer?)
17g.50185568G>ACA500991356COL1A1c.4329C>T (p.Ala1443=)
c.4059C>T (p.Ala1353=)
c.3411C>T (p.Ala1137=)
c.4131C>T (p.Ala1377=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185568G>CCA500991354COL1A1c.4329C>G (p.Ala1443=)
c.4059C>G (p.Ala1353=)
c.3411C>G (p.Ala1137=)
c.4131C>G (p.Ala1377=)
 ClinVar
17g.50185568G=CA2263913713COL1A1c.4329C= (p.Ala1443=)
c.4059C= (p.Ala1353=)
c.3411C= (p.Ala1137=)
c.4131C= (p.Ala1377=)
17g.50185568G>TCA500991355COL1A1c.4329C>A (p.Ala1443=)
c.4059C>A (p.Ala1353=)
c.3411C>A (p.Ala1137=)
c.4131C>A (p.Ala1377=)
17g.50185569G>ACA400190313COL1A1c.4328C>T (p.Ala1443Val)
c.4058C>T (p.Ala1353Val)
c.3410C>T (p.Ala1137Val)
c.4130C>T (p.Ala1377Val)
 ClinVar dbSNP COSMIC
17g.50185569G>CCA400190321COL1A1c.4328C>G (p.Ala1443Gly)
c.4058C>G (p.Ala1353Gly)
c.3410C>G (p.Ala1137Gly)
c.4130C>G (p.Ala1377Gly)
17g.50185569G=CA2263913714COL1A1c.4328C= (p.Ala1443=)
c.4058C= (p.Ala1353=)
c.3410C= (p.Ala1137=)
c.4130C= (p.Ala1377=)
17g.50185569G>TCA400190316COL1A1c.4328C>A (p.Ala1443Asp)
c.4058C>A (p.Ala1353Asp)
c.3410C>A (p.Ala1137Asp)
c.4130C>A (p.Ala1377Asp)
17g.50185570C>ACA400190324COL1A1c.4327G>T (p.Ala1443Ser)
c.4057G>T (p.Ala1353Ser)
c.3409G>T (p.Ala1137Ser)
c.4129G>T (p.Ala1377Ser)
 gnomAD v4
17g.50185570C>GCA400190325COL1A1c.4327G>C (p.Ala1443Pro)
c.4057G>C (p.Ala1353Pro)
c.3409G>C (p.Ala1137Pro)
c.4129G>C (p.Ala1377Pro)
17g.50185570C>TCA400190327COL1A1c.4327G>A (p.Ala1443Thr)
c.4057G>A (p.Ala1353Thr)
c.3409G>A (p.Ala1137Thr)
c.4129G>A (p.Ala1377Thr)
17g.50185570_50185576dupCA658656733COL1A1c.4321_4327dup (p.Ala1443GlyfsTer?)
c.4051_4057dup (p.Ala1353GlyfsTer?)
c.3403_3409dup (p.Ala1137GlyfsTer?)
c.4123_4129dup (p.Ala1377GlyfsTer?)
 ClinVar dbSNP
17g.50185571C>ACA500991361COL1A1c.4326G>T (p.Val1442=)
c.4056G>T (p.Val1352=)
c.3408G>T (p.Val1136=)
c.4128G>T (p.Val1376=)
17g.50185571C>GCA500991363COL1A1c.4326G>C (p.Val1442=)
c.4056G>C (p.Val1352=)
c.3408G>C (p.Val1136=)
c.4128G>C (p.Val1376=)
17g.50185571C>TCA500991364COL1A1c.4326G>A (p.Val1442=)
c.4056G>A (p.Val1352=)
c.3408G>A (p.Val1136=)
c.4128G>A (p.Val1376=)
17g.50185572A=CA2263913715COL1A1c.4325T= (p.Val1442=)
c.4055T= (p.Val1352=)
c.3407T= (p.Val1136=)
c.4127T= (p.Val1376=)
17g.50185572A>CCA400190330COL1A1c.4325T>G (p.Val1442Gly)
c.4055T>G (p.Val1352Gly)
c.3407T>G (p.Val1136Gly)
c.4127T>G (p.Val1376Gly)
17g.50185572A>GCA400190332COL1A1c.4325T>C (p.Val1442Ala)
c.4055T>C (p.Val1352Ala)
c.3407T>C (p.Val1136Ala)
c.4127T>C (p.Val1376Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.50185572A>TCA400190339COL1A1c.4325T>A (p.Val1442Glu)
c.4055T>A (p.Val1352Glu)
c.3407T>A (p.Val1136Glu)
c.4127T>A (p.Val1376Glu)
17g.50185573C>ACA400190346COL1A1c.4324G>T (p.Val1442Leu)
c.4054G>T (p.Val1352Leu)
c.3406G>T (p.Val1136Leu)
c.4126G>T (p.Val1376Leu)
17g.50185573C=CA2263913716COL1A1c.4324G= (p.Val1442=)
c.4054G= (p.Val1352=)
c.3406G= (p.Val1136=)
c.4126G= (p.Val1376=)
17g.50185573C>GCA400190349COL1A1c.4324G>C (p.Val1442Leu)
c.4054G>C (p.Val1352Leu)
c.3406G>C (p.Val1136Leu)
c.4126G>C (p.Val1376Leu)
17g.50185573C>TCA400190353COL1A1c.4324G>A (p.Val1442Met)
c.4054G>A (p.Val1352Met)
c.3406G>A (p.Val1136Met)
c.4126G>A (p.Val1376Met)
 dbSNP gnomAD v4
17g.50185574A=CA2263913717COL1A1c.4323T= (p.Asp1441=)
c.4053T= (p.Asp1351=)
c.3405T= (p.Asp1135=)
c.4125T= (p.Asp1375=)
17g.50185574A>CCA400190360COL1A1c.4323T>G (p.Asp1441Glu)
c.4053T>G (p.Asp1351Glu)
c.3405T>G (p.Asp1135Glu)
c.4125T>G (p.Asp1375Glu)
17g.50185574A>GCA8644180COL1A1c.4323T>C (p.Asp1441=)
c.4053T>C (p.Asp1351=)
c.3405T>C (p.Asp1135=)
c.4125T>C (p.Asp1375=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185574A>TCA400190372COL1A1c.4323T>A (p.Asp1441Glu)
c.4053T>A (p.Asp1351Glu)
c.3405T>A (p.Asp1135Glu)
c.4125T>A (p.Asp1375Glu)
 ClinVar
17g.50185575T>ACA400190383COL1A1c.4322A>T (p.Asp1441Val)
c.4052A>T (p.Asp1351Val)
c.3404A>T (p.Asp1135Val)
c.4124A>T (p.Asp1375Val)
17g.50185575T>CCA400190390COL1A1c.4322A>G (p.Asp1441Gly)
c.4052A>G (p.Asp1351Gly)
c.3404A>G (p.Asp1135Gly)
c.4124A>G (p.Asp1375Gly)
 gnomAD v4
17g.50185575T>GCA400190377COL1A1c.4322A>C (p.Asp1441Ala)
c.4052A>C (p.Asp1351Ala)
c.3404A>C (p.Asp1135Ala)
c.4124A>C (p.Asp1375Ala)
17g.50185576C>ACA291542763COL1A1c.4321G>T (p.Asp1441Tyr)
c.4051G>T (p.Asp1351Tyr)
c.3403G>T (p.Asp1135Tyr)
c.4123G>T (p.Asp1375Tyr)
 ClinVar dbSNP
17g.50185576C=CA2263913718COL1A1c.4321G= (p.Asp1441=)
c.4051G= (p.Asp1351=)
c.3403G= (p.Asp1135=)
c.4123G= (p.Asp1375=)
17g.50185576C>GCA400190398COL1A1c.4321G>C (p.Asp1441His)
c.4051G>C (p.Asp1351His)
c.3403G>C (p.Asp1135His)
c.4123G>C (p.Asp1375His)
 ClinVar dbSNP
17g.50185576C>TCA400190401COL1A1c.4321G>A (p.Asp1441Asn)
c.4051G>A (p.Asp1351Asn)
c.3403G>A (p.Asp1135Asn)
c.4123G>A (p.Asp1375Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.50185577G>ACA8644181COL1A1c.4320C>T (p.Ile1440=)
c.4050C>T (p.Ile1350=)
c.3402C>T (p.Ile1134=)
c.4122C>T (p.Ile1374=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185577G>CCA400190421COL1A1c.4320C>G (p.Ile1440Met)
c.4050C>G (p.Ile1350Met)
c.3402C>G (p.Ile1134Met)
c.4122C>G (p.Ile1374Met)
 ClinVar dbSNP
17g.50185577G=CA2263913719COL1A1c.4320C= (p.Ile1440=)
c.4050C= (p.Ile1350=)
c.3402C= (p.Ile1134=)
c.4122C= (p.Ile1374=)
17g.50185577G>TCA500991380COL1A1c.4320C>A (p.Ile1440=)
c.4050C>A (p.Ile1350=)
c.3402C>A (p.Ile1134=)
c.4122C>A (p.Ile1374=)
17g.50185578A=CA2263913720COL1A1c.4319T= (p.Ile1440=)
c.4049T= (p.Ile1350=)
c.3401T= (p.Ile1134=)
c.4121T= (p.Ile1374=)
17g.50185578A>CCA400190423COL1A1c.4319T>G (p.Ile1440Ser)
c.4049T>G (p.Ile1350Ser)
c.3401T>G (p.Ile1134Ser)
c.4121T>G (p.Ile1374Ser)
17g.50185578A>GCA400190427COL1A1c.4319T>C (p.Ile1440Thr)
c.4049T>C (p.Ile1350Thr)
c.3401T>C (p.Ile1134Thr)
c.4121T>C (p.Ile1374Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.50185578A>TCA291542764COL1A1c.4319T>A (p.Ile1440Asn)
c.4049T>A (p.Ile1350Asn)
c.3401T>A (p.Ile1134Asn)
c.4121T>A (p.Ile1374Asn)
 dbSNP
17g.50185579T>ACA400190429COL1A1c.4318A>T (p.Ile1440Phe)
c.4048A>T (p.Ile1350Phe)
c.3400A>T (p.Ile1134Phe)
c.4120A>T (p.Ile1374Phe)
17g.50185579T>CCA400190433COL1A1c.4318A>G (p.Ile1440Val)
c.4048A>G (p.Ile1350Val)
c.3400A>G (p.Ile1134Val)
c.4120A>G (p.Ile1374Val)
17g.50185579T>GCA400190430COL1A1c.4318A>C (p.Ile1440Leu)
c.4048A>C (p.Ile1350Leu)
c.3400A>C (p.Ile1134Leu)
c.4120A>C (p.Ile1374Leu)
17g.50185579_50185590dupCA984452240COL1A1c.4307_4318dup (p.Ile1439_Ile1440insSerLeuProIle)
c.4037_4048dup (p.Ile1349_Ile1350insSerLeuProIle)
c.3389_3400dup (p.Ile1133_Ile1134insSerLeuProIle)
c.4109_4120dup (p.Ile1373_Ile1374insSerLeuProIle)
 dbSNP gnomAD v3 gnomAD v4
17g.50185580G>ACA500991384COL1A1c.4317C>T (p.Ile1439=)
c.4047C>T (p.Ile1349=)
c.3399C>T (p.Ile1133=)
c.4119C>T (p.Ile1373=)
 gnomAD v4
17g.50185580G>CCA8644182COL1A1c.4317C>G (p.Ile1439Met)
c.4047C>G (p.Ile1349Met)
c.3399C>G (p.Ile1133Met)
c.4119C>G (p.Ile1373Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185580G=CA2263913721COL1A1c.4317C= (p.Ile1439=)
c.4047C= (p.Ile1349=)
c.3399C= (p.Ile1133=)
c.4119C= (p.Ile1373=)
17g.50185580G>TCA500991385COL1A1c.4317C>A (p.Ile1439=)
c.4047C>A (p.Ile1349=)
c.3399C>A (p.Ile1133=)
c.4119C>A (p.Ile1373=)
 gnomAD v4
17g.50185581A=CA2263913722COL1A1c.4316T= (p.Ile1439=)
c.4046T= (p.Ile1349=)
c.3398T= (p.Ile1133=)
c.4118T= (p.Ile1373=)
17g.50185581A>CCA400190438COL1A1c.4316T>G (p.Ile1439Ser)
c.4046T>G (p.Ile1349Ser)
c.3398T>G (p.Ile1133Ser)
c.4118T>G (p.Ile1373Ser)
17g.50185581A>GCA400190441COL1A1c.4316T>C (p.Ile1439Thr)
c.4046T>C (p.Ile1349Thr)
c.3398T>C (p.Ile1133Thr)
c.4118T>C (p.Ile1373Thr)
 ClinVar dbSNP
17g.50185581A>TCA400190444COL1A1c.4316T>A (p.Ile1439Asn)
c.4046T>A (p.Ile1349Asn)
c.3398T>A (p.Ile1133Asn)
c.4118T>A (p.Ile1373Asn)
17g.50185582T>ACA400190448COL1A1c.4315A>T (p.Ile1439Phe)
c.4045A>T (p.Ile1349Phe)
c.3397A>T (p.Ile1133Phe)
c.4117A>T (p.Ile1373Phe)
17g.50185582T>CCA8644183COL1A1c.4315A>G (p.Ile1439Val)
c.4045A>G (p.Ile1349Val)
c.3397A>G (p.Ile1133Val)
c.4117A>G (p.Ile1373Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185582T>GCA400190454COL1A1c.4315A>C (p.Ile1439Leu)
c.4045A>C (p.Ile1349Leu)
c.3397A>C (p.Ile1133Leu)
c.4117A>C (p.Ile1373Leu)
17g.50185582T=CA2263913723COL1A1c.4315A= (p.Ile1439=)
c.4045A= (p.Ile1349=)
c.3397A= (p.Ile1133=)
c.4117A= (p.Ile1373=)
17g.50185583G>ACA8644184COL1A1c.4314C>T (p.Pro1438=)
c.4044C>T (p.Pro1348=)
c.3396C>T (p.Pro1132=)
c.4116C>T (p.Pro1372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185583G>CCA500991387COL1A1c.4314C>G (p.Pro1438=)
c.4044C>G (p.Pro1348=)
c.3396C>G (p.Pro1132=)
c.4116C>G (p.Pro1372=)
17g.50185583G=CA2263913724COL1A1c.4314C= (p.Pro1438=)
c.4044C= (p.Pro1348=)
c.3396C= (p.Pro1132=)
c.4116C= (p.Pro1372=)
17g.50185583G>TCA500991388COL1A1c.4314C>A (p.Pro1438=)
c.4044C>A (p.Pro1348=)
c.3396C>A (p.Pro1132=)
c.4116C>A (p.Pro1372=)
17g.50185584G>ACA400190463COL1A1c.4313C>T (p.Pro1438Leu)
c.4043C>T (p.Pro1348Leu)
c.3395C>T (p.Pro1132Leu)
c.4115C>T (p.Pro1372Leu)
17g.50185584G>CCA291542765COL1A1c.4313C>G (p.Pro1438Arg)
c.4043C>G (p.Pro1348Arg)
c.3395C>G (p.Pro1132Arg)
c.4115C>G (p.Pro1372Arg)
 dbSNP
17g.50185584G=CA2263913725COL1A1c.4313C= (p.Pro1438=)
c.4043C= (p.Pro1348=)
c.3395C= (p.Pro1132=)
c.4115C= (p.Pro1372=)
17g.50185584G>TCA400190466COL1A1c.4313C>A (p.Pro1438His)
c.4043C>A (p.Pro1348His)
c.3395C>A (p.Pro1132His)
c.4115C>A (p.Pro1372His)
17g.50185585G>ACA400190469COL1A1c.4312C>T (p.Pro1438Ser)
c.4042C>T (p.Pro1348Ser)
c.3394C>T (p.Pro1132Ser)
c.4114C>T (p.Pro1372Ser)
17g.50185585G>CCA400190472COL1A1c.4312C>G (p.Pro1438Ala)
c.4042C>G (p.Pro1348Ala)
c.3394C>G (p.Pro1132Ala)
c.4114C>G (p.Pro1372Ala)
17g.50185585G>TCA400190474COL1A1c.4312C>A (p.Pro1438Thr)
c.4042C>A (p.Pro1348Thr)
c.3394C>A (p.Pro1132Thr)
c.4114C>A (p.Pro1372Thr)
17g.50185586C>ACA500991392COL1A1c.4311G>T (p.Leu1437=)
c.4041G>T (p.Leu1347=)
c.3393G>T (p.Leu1131=)
c.4113G>T (p.Leu1371=)
17g.50185586C>GCA500991393COL1A1c.4311G>C (p.Leu1437=)
c.4041G>C (p.Leu1347=)
c.3393G>C (p.Leu1131=)
c.4113G>C (p.Leu1371=)
17g.50185586C>TCA500991394COL1A1c.4311G>A (p.Leu1437=)
c.4041G>A (p.Leu1347=)
c.3393G>A (p.Leu1131=)
c.4113G>A (p.Leu1371=)
17g.50185587A=CA2263913726COL1A1c.4310T= (p.Leu1437=)
c.4040T= (p.Leu1347=)
c.3392T= (p.Leu1131=)
c.4112T= (p.Leu1371=)
17g.50185587A>CCA400190478COL1A1c.4310T>G (p.Leu1437Arg)
c.4040T>G (p.Leu1347Arg)
c.3392T>G (p.Leu1131Arg)
c.4112T>G (p.Leu1371Arg)
17g.50185587A>GCA400190481COL1A1c.4310T>C (p.Leu1437Pro)
c.4040T>C (p.Leu1347Pro)
c.3392T>C (p.Leu1131Pro)
c.4112T>C (p.Leu1371Pro)
17g.50185587A>TCA291542766COL1A1c.4310T>A (p.Leu1437Gln)
c.4040T>A (p.Leu1347Gln)
c.3392T>A (p.Leu1131Gln)
c.4112T>A (p.Leu1371Gln)
 dbSNP
17g.50185588G>ACA500991396COL1A1c.4309C>T (p.Leu1437=)
c.4039C>T (p.Leu1347=)
c.3391C>T (p.Leu1131=)
c.4111C>T (p.Leu1371=)
 gnomAD v4
17g.50185588G>CCA400190495COL1A1c.4309C>G (p.Leu1437Val)
c.4039C>G (p.Leu1347Val)
c.3391C>G (p.Leu1131Val)
c.4111C>G (p.Leu1371Val)
17g.50185588G=CA2263913727COL1A1c.4309C= (p.Leu1437=)
c.4039C= (p.Leu1347=)
c.3391C= (p.Leu1131=)
c.4111C= (p.Leu1371=)
17g.50185588G>TCA8644185COL1A1c.4309C>A (p.Leu1437Met)
c.4039C>A (p.Leu1347Met)
c.3391C>A (p.Leu1131Met)
c.4111C>A (p.Leu1371Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185589delCA2695226419COL1A1c.4309del (p.Leu1437CysfsTer?)
c.4039del (p.Leu1347CysfsTer?)
c.3391del (p.Leu1131CysfsTer?)
c.4111del (p.Leu1371CysfsTer?)

Number of alleles fetched