Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94404748_94404839delCA2776991007COL1A2c.378+2_379del
c.372+2_373del
7g.94404791_94404802delCA2776991011COL1A2c.378+45_379-37del (n.378+45_379-37del)
c.372+45_373-37del (n.372+45_373-37del)
7g.94404801A>GCA2683767109COL1A2c.379-38A>G (n.379-38A>G)
c.373-38A>G (n.373-38A>G)
 gnomAD v4
7g.94404802dupCA2548957693COL1A2c.379-37dup (n.379-37dup)
c.373-37dup (n.373-37dup)
7g.94404805C>ACA576321559COL1A2c.379-34C>A (n.379-34C>A)
c.373-34C>A (n.373-34C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404805C=CA1726792243COL1A2c.379-34C= (n.379-34C=)
c.373-34C= (n.373-34C=)
7g.94404806_94404807insCGGACGACCA2776991013COL1A2c.379-33_379-32insCGGACGAC (n.379-33_379-32insCGGACGAC)
c.373-33_373-32insCGGACGAC (n.373-33_373-32insCGGACGAC)
7g.94404806_94404812delCA2568936694COL1A2c.379-33_379-27del (n.379-33_379-27del)
c.373-33_373-27del (n.373-33_373-27del)
7g.94404807T>CCA2776991016COL1A2c.379-32T>C (n.379-32T>C)
c.373-32T>C (n.373-32T>C)
7g.94404807T>GCA2683767110COL1A2c.379-32T>G (n.379-32T>G)
c.373-32T>G (n.373-32T>G)
 gnomAD v4
7g.94404808T>CCA2683767111COL1A2c.379-31T>C (n.379-31T>C)
c.373-31T>C (n.373-31T>C)
 gnomAD v4
7g.94404809A>GCA2776991019COL1A2c.379-30A>G (n.379-30A>G)
c.373-30A>G (n.373-30A>G)
7g.94404810G>ACA2683767112COL1A2c.379-29G>A (n.379-29G>A)
c.373-29G>A (n.373-29G>A)
 gnomAD v4
7g.94404811T>CCA4346652COL1A2c.379-28T>C (n.379-28T>C)
c.373-28T>C (n.373-28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404811T=CA1726792244COL1A2c.379-28T= (n.379-28T=)
c.373-28T= (n.373-28T=)
7g.94404812G>CCA2715125182COL1A2c.379-27G>C (n.379-27G>C)
c.373-27G>C (n.373-27G>C)
 dbSNP
7g.94404814A>GCA2776991021COL1A2c.379-25A>G (n.379-25A>G)
c.373-25A>G (n.373-25A>G)
7g.94404815A=CA1726792245COL1A2c.379-24A= (n.379-24A=)
c.373-24A= (n.373-24A=)
7g.94404815A>GCA4346653COL1A2c.379-24A>G (n.379-24A>G)
c.373-24A>G (n.373-24A>G)
 dbSNP ExAC gnomAD v2
7g.94404818_94404820delCA2683767113COL1A2c.379-21_379-19del (n.379-21_379-19del)
c.373-21_373-19del (n.373-21_373-19del)
 gnomAD v4
7g.94404816delCA2776991022COL1A2c.379-23del (n.379-23del)
c.373-23del (n.373-23del)
7g.94404816T>GCA576321560COL1A2c.379-23T>G (n.379-23T>G)
c.373-23T>G (n.373-23T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404816T=CA1726792246COL1A2c.379-23T= (n.379-23T=)
c.373-23T= (n.373-23T=)
7g.94404817_94404818insGGGTCA651752744COL1A2c.379-22_379-21insGGGT (n.379-22_379-21insGGGT)
c.373-22_373-21insGGGT (n.373-22_373-21insGGGT)
 COSMIC COSMIC
7g.94404818A>TCA2683767114COL1A2c.379-21A>T (n.379-21A>T)
c.373-21A>T (n.373-21A>T)
 gnomAD v4
7g.94404819T>GCA2776991025COL1A2c.379-20T>G (n.379-20T>G)
c.373-20T>G (n.373-20T>G)
7g.94404821G>ACA2776991027COL1A2c.379-18G>A (n.379-18G>A)
c.373-18G>A (n.373-18G>A)
7g.94404822G>ACA2683767115COL1A2c.379-17G>A (n.379-17G>A)
c.373-17G>A (n.373-17G>A)
 gnomAD v4
7g.94404822G>TCA2683767116COL1A2c.379-17G>T (n.379-17G>T)
c.373-17G>T (n.373-17G>T)
 gnomAD v4
7g.94404824C>TCA2683767117COL1A2c.379-15C>T (n.379-15C>T)
c.373-15C>T (n.373-15C>T)
 gnomAD v4
7g.94404824_94404829delCA2776991029COL1A2c.379-15_379-10del (n.379-15_379-10del)
c.373-15_373-10del (n.373-15_373-10del)
7g.94404826C>ACA843998712COL1A2c.379-13C>A (n.379-13C>A)
c.373-13C>A (n.373-13C>A)
 dbSNP gnomAD v4
7g.94404826C=CA1726792247COL1A2c.379-13C= (n.379-13C=)
c.373-13C= (n.373-13C=)
7g.94404826C>TCA843998714COL1A2c.379-13C>T (n.379-13C>T)
c.373-13C>T (n.373-13C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94404827C>GCA2683767118COL1A2c.379-12C>G (n.379-12C>G)
c.373-12C>G (n.373-12C>G)
 gnomAD v4
7g.94404827C>TCA2578941497COL1A2c.379-12C>T (n.379-12C>T)
c.373-12C>T (n.373-12C>T)
 gnomAD v4
7g.94404831T>CCA576321561COL1A2c.379-8T>C (n.379-8T>C)
c.373-8T>C (n.373-8T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94404831T>GCA2776991030COL1A2c.379-8T>G (n.379-8T>G)
c.373-8T>G (n.373-8T>G)
7g.94404831T=CA1726792248COL1A2c.379-8T= (n.379-8T=)
c.373-8T= (n.373-8T=)
7g.94404832T>GCA2683767119COL1A2c.379-7T>G (n.379-7T>G)
c.373-7T>G (n.373-7T>G)
 gnomAD v4
7g.94404833T>CCA2683767120COL1A2c.379-6T>C (n.379-6T>C)
c.373-6T>C (n.373-6T>C)
 gnomAD v4
7g.94404834C=CA1726792249COL1A2c.379-5C= (n.379-5C=)
c.373-5C= (n.373-5C=)
7g.94404834C>GCA4346654COL1A2c.379-5C>G (n.379-5C>G)
c.373-5C>G (n.373-5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404834C>TCA2683767121COL1A2c.379-5C>T (n.379-5C>T)
c.373-5C>T (n.373-5C>T)
 gnomAD v4
7g.94404834_94404838delCA2776991031COL1A2c.379-5_379-1del (n.379-5_379-1del)
c.373-5_373-1del (n.373-5_373-1del)
7g.94404836T>ACA2578941498COL1A2c.379-3T>A (n.379-3T>A)
c.373-3T>A (n.373-3T>A)
 gnomAD v4
7g.94404836T>CCA576321562COL1A2c.379-3T>C (n.379-3T>C)
c.373-3T>C (n.373-3T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404836T=CA1726792250COL1A2c.379-3T= (n.379-3T=)
c.373-3T= (n.373-3T=)
7g.94404837A=CA1726792251COL1A2c.379-2A= (n.379-2A=)
c.373-2A= (n.373-2A=)
7g.94404837A>CCA368219642COL1A2c.379-2A>C (n.379-2A>C)
c.373-2A>C (n.373-2A>C)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.94404837A>GCA368219641COL1A2c.379-2A>G (n.379-2A>G)
c.373-2A>G (n.373-2A>G)
 gnomAD v4
7g.94404837A>TCA368219640COL1A2c.379-2A>T (n.379-2A>T)
c.373-2A>T (n.373-2A>T)
7g.94404838G>ACA368219643COL1A2c.379-1G>A (n.379-1G>A)
c.373-1G>A (n.373-1G>A)
7g.94404838G>CCA368219644COL1A2c.379-1G>C (n.379-1G>C)
c.373-1G>C (n.373-1G>C)
7g.94404838G>TCA368219645COL1A2c.379-1G>T (n.379-1G>T)
c.373-1G>T (n.373-1G>T)
7g.94404839G>ACA368219646COL1A2c.379G>A (p.Gly127Ser)
c.373G>A (p.Gly125Ser)
7g.94404839G>CCA368219647COL1A2c.379G>C (p.Gly127Arg)
c.373G>C (p.Gly125Arg)
7g.94404839G>TCA368219648COL1A2c.379G>T (p.Gly127Cys)
c.373G>T (p.Gly125Cys)
7g.94404840G>ACA368219649COL1A2c.380G>A (p.Gly127Asp)
c.374G>A (p.Gly125Asp)
7g.94404840G>CCA368219651COL1A2c.380G>C (p.Gly127Ala)
c.374G>C (p.Gly125Ala)
7g.94404840G>TCA368219650COL1A2c.380G>T (p.Gly127Val)
c.374G>T (p.Gly125Val)
7g.94404841T>ACA456487199COL1A2c.381T>A (p.Gly127=)
c.375T>A (p.Gly125=)
7g.94404841T>CCA456487200COL1A2c.381T>C (p.Gly127=)
c.375T>C (p.Gly125=)
7g.94404841T>GCA456487201COL1A2c.381T>G (p.Gly127=)
c.375T>G (p.Gly125=)
 gnomAD v4
7g.94404842C>ACA4346656COL1A2c.382C>A (p.Pro128Thr)
c.376C>A (p.Pro126Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404842C=CA1726792252COL1A2c.382C= (p.Pro128=)
c.376C= (p.Pro126=)
7g.94404842C>GCA368219652COL1A2c.382C>G (p.Pro128Ala)
c.376C>G (p.Pro126Ala)
 gnomAD v4
7g.94404842C>TCA4346655COL1A2c.382C>T (p.Pro128Ser)
c.376C>T (p.Pro126Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404843C>ACA368219653COL1A2c.383C>A (p.Pro128His)
c.377C>A (p.Pro126His)
7g.94404843C>GCA368219654COL1A2c.383C>G (p.Pro128Arg)
c.377C>G (p.Pro126Arg)
7g.94404843C>TCA368219655COL1A2c.383C>T (p.Pro128Leu)
c.377C>T (p.Pro126Leu)
7g.94404844T>ACA4346657COL1A2c.384T>A (p.Pro128=)
c.378T>A (p.Pro126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404844T>CCA456487203COL1A2c.384T>C (p.Pro128=)
c.378T>C (p.Pro126=)
7g.94404844T>GCA456487204COL1A2c.384T>G (p.Pro128=)
c.378T>G (p.Pro126=)
7g.94404844T=CA1726792253COL1A2c.384T= (p.Pro128=)
c.378T= (p.Pro126=)
7g.94404845G>ACA368219656COL1A2c.385G>A (p.Ala129Thr)
c.379G>A (p.Ala127Thr)
7g.94404845G>CCA368219657COL1A2c.385G>C (p.Ala129Pro)
c.379G>C (p.Ala127Pro)
7g.94404845G>TCA368219658COL1A2c.385G>T (p.Ala129Ser)
c.379G>T (p.Ala127Ser)
7g.94404846C>ACA368219661COL1A2c.386C>A (p.Ala129Glu)
c.380C>A (p.Ala127Glu)
7g.94404846C>GCA368219660COL1A2c.386C>G (p.Ala129Gly)
c.380C>G (p.Ala127Gly)
7g.94404846C>TCA368219659COL1A2c.386C>T (p.Ala129Val)
c.380C>T (p.Ala127Val)
7g.94404847A>CCA456487209COL1A2c.387A>C (p.Ala129=)
c.381A>C (p.Ala127=)
7g.94404847A>GCA456487208COL1A2c.387A>G (p.Ala129=)
c.381A>G (p.Ala127=)
 gnomAD v4
7g.94404847A>TCA456487207COL1A2c.387A>T (p.Ala129=)
c.381A>T (p.Ala127=)
7g.94404848G>ACA368219662COL1A2c.388G>A (p.Gly130Ser)
c.382G>A (p.Gly128Ser)
7g.94404848G>CCA368219664COL1A2c.388G>C (p.Gly130Arg)
c.382G>C (p.Gly128Arg)
7g.94404848G>TCA368219663COL1A2c.388G>T (p.Gly130Cys)
c.382G>T (p.Gly128Cys)
7g.94404849G>ACA162914426COL1A2c.389G>A (p.Gly130Asp)
c.383G>A (p.Gly128Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94404849G>CCA368219665COL1A2c.389G>C (p.Gly130Ala)
c.383G>C (p.Gly128Ala)
7g.94404849G=CA1726792254COL1A2c.389G= (p.Gly130=)
c.383G= (p.Gly128=)
7g.94404849G>TCA368219666COL1A2c.389G>T (p.Gly130Val)
c.383G>T (p.Gly128Val)
 ClinVar dbSNP gnomAD v4
7g.94404850T>ACA456487303COL1A2c.390T>A (p.Gly130=)
c.384T>A (p.Gly128=)
 gnomAD v4
7g.94404850T>CCA456487304COL1A2c.390T>C (p.Gly130=)
c.384T>C (p.Gly128=)
7g.94404850T>GCA456487305COL1A2c.390T>G (p.Gly130=)
c.384T>G (p.Gly128=)
7g.94404851G>ACA368219667COL1A2c.391G>A (p.Ala131Thr)
c.385G>A (p.Ala129Thr)
 gnomAD v4
7g.94404851G>CCA368219668COL1A2c.391G>C (p.Ala131Pro)
c.385G>C (p.Ala129Pro)
7g.94404851G>TCA368219669COL1A2c.391G>T (p.Ala131Ser)
c.385G>T (p.Ala129Ser)
 gnomAD v4
7g.94404852C>ACA368219670COL1A2c.392C>A (p.Ala131Asp)
c.386C>A (p.Ala129Asp)
7g.94404852C>GCA368219671COL1A2c.392C>G (p.Ala131Gly)
c.386C>G (p.Ala129Gly)
7g.94404852C>TCA368219672COL1A2c.392C>T (p.Ala131Val)
c.386C>T (p.Ala129Val)
 ClinVar gnomAD v4
7g.94404853T>ACA456487309COL1A2c.393T>A (p.Ala131=)
c.387T>A (p.Ala129=)
7g.94404853T>CCA456487310COL1A2c.393T>C (p.Ala131=)
c.387T>C (p.Ala129=)
7g.94404853T>GCA456487311COL1A2c.393T>G (p.Ala131=)
c.387T>G (p.Ala129=)
7g.94404854C>ACA368219673COL1A2c.394C>A (p.Arg132Ser)
c.388C>A (p.Arg130Ser)
 gnomAD v4
7g.94404854C=CA1726792255COL1A2c.394C= (p.Arg132=)
c.388C= (p.Arg130=)
7g.94404854C>GCA4346658COL1A2c.394C>G (p.Arg132Gly)
c.388C>G (p.Arg130Gly)
 dbSNP ExAC gnomAD v2
7g.94404854C>TCA4346659COL1A2c.394C>T (p.Arg132Cys)
c.388C>T (p.Arg130Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404855G>ACA4346660COL1A2c.395G>A (p.Arg132His)
c.389G>A (p.Arg130His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94404855G>CCA368219675COL1A2c.395G>C (p.Arg132Pro)
c.389G>C (p.Arg130Pro)
7g.94404855G=CA1726792256COL1A2c.395G= (p.Arg132=)
c.389G= (p.Arg130=)
7g.94404855G>TCA368219674COL1A2c.395G>T (p.Arg132Leu)
c.389G>T (p.Arg130Leu)
7g.94404856T>ACA456487312COL1A2c.396T>A (p.Arg132=)
c.390T>A (p.Arg130=)
 gnomAD v4
7g.94404856T>CCA456487313COL1A2c.396T>C (p.Arg132=)
c.390T>C (p.Arg130=)
7g.94404856T>GCA456487315COL1A2c.396T>G (p.Arg132=)
c.390T>G (p.Arg130=)
7g.94404857G>ACA162914443COL1A2c.397G>A (p.Gly133Ser)
c.391G>A (p.Gly131Ser)
 dbSNP COSMIC
7g.94404857G>CCA368219676COL1A2c.397G>C (p.Gly133Arg)
c.391G>C (p.Gly131Arg)
7g.94404857G=CA1726792257COL1A2c.397G= (p.Gly133=)
c.391G= (p.Gly131=)
7g.94404857G>TCA368219677COL1A2c.397G>T (p.Gly133Cys)
c.391G>T (p.Gly131Cys)
7g.94404858G>ACA368219678COL1A2c.398G>A (p.Gly133Asp)
c.392G>A (p.Gly131Asp)
7g.94404858G>CCA368219679COL1A2c.398G>C (p.Gly133Ala)
c.392G>C (p.Gly131Ala)
7g.94404858G=CA1726792258COL1A2c.398G= (p.Gly133=)
c.392G= (p.Gly131=)
7g.94404858G>TCA368219680COL1A2c.398G>T (p.Gly133Val)
c.392G>T (p.Gly131Val)
 ClinVar dbSNP COSMIC
7g.94404859T>ACA456487317COL1A2c.399T>A (p.Gly133=)
c.393T>A (p.Gly131=)
7g.94404859T>CCA456487318COL1A2c.399T>C (p.Gly133=)
c.393T>C (p.Gly131=)
7g.94404859T>GCA456487319COL1A2c.399T>G (p.Gly133=)
c.393T>G (p.Gly131=)
7g.94404859_94404860delinsTCCA1726792259COL1A2c.399_400delinsTC (p.Gly133=)
c.393_394delinsTC (p.Gly131=)
7g.94404862_94404873delCA2740097418COL1A2c.402_413del (p.Ala135_Pro138del)
c.396_407del (p.Ala133_Pro136del)
 ClinVar
7g.94404860C>ACA368219681COL1A2c.400C>A (p.Pro134Thr)
c.394C>A (p.Pro132Thr)
 gnomAD v4
7g.94404860C=CA1726792260COL1A2c.400C= (p.Pro134=)
c.394C= (p.Pro132=)
7g.94404860C>GCA368219682COL1A2c.400C>G (p.Pro134Ala)
c.394C>G (p.Pro132Ala)
7g.94404860C>TCA368219683COL1A2c.400C>T (p.Pro134Ser)
c.394C>T (p.Pro132Ser)
 dbSNP COSMIC
7g.94404861delCA16042604COL1A2c.401del (p.Pro134GlnfsTer?)
c.395del (p.Pro132GlnfsTer?)
 ClinVar dbSNP
7g.94404861C>ACA368219684COL1A2c.401C>A (p.Pro134Gln)
c.395C>A (p.Pro132Gln)
7g.94404861C=CA1726792261COL1A2c.401C= (p.Pro134=)
c.395C= (p.Pro132=)
7g.94404861C>GCA368219685COL1A2c.401C>G (p.Pro134Arg)
c.395C>G (p.Pro132Arg)
7g.94404861C>TCA4346661COL1A2c.401C>T (p.Pro134Leu)
c.395C>T (p.Pro132Leu)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.94404862A=CA1726792262COL1A2c.402A= (p.Pro134=)
c.396A= (p.Pro132=)
7g.94404862A>CCA4346662COL1A2c.402A>C (p.Pro134=)
c.396A>C (p.Pro132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404862A>GCA456487322COL1A2c.402A>G (p.Pro134=)
c.396A>G (p.Pro132=)
7g.94404862A>TCA456487323COL1A2c.402A>T (p.Pro134=)
c.396A>T (p.Pro132=)
7g.94404863G>ACA368219687COL1A2c.403G>A (p.Ala135Thr)
c.397G>A (p.Ala133Thr)
7g.94404863G>CCA368219686COL1A2c.403G>C (p.Ala135Pro)
c.397G>C (p.Ala133Pro)
 gnomAD v4
7g.94404863G>TCA368219688COL1A2c.403G>T (p.Ala135Ser)
c.397G>T (p.Ala133Ser)
7g.94404864C>ACA368219689COL1A2c.404C>A (p.Ala135Asp)
c.398C>A (p.Ala133Asp)
7g.94404864C>GCA368219690COL1A2c.404C>G (p.Ala135Gly)
c.398C>G (p.Ala133Gly)
7g.94404864C>TCA368219691COL1A2c.404C>T (p.Ala135Val)
c.398C>T (p.Ala133Val)
 gnomAD v4 COSMIC
7g.94404865T>ACA456487327COL1A2c.405T>A (p.Ala135=)
c.399T>A (p.Ala133=)
7g.94404865T>CCA456487328COL1A2c.405T>C (p.Ala135=)
c.399T>C (p.Ala133=)
7g.94404865T>GCA456487329COL1A2c.405T>G (p.Ala135=)
c.399T>G (p.Ala133=)
7g.94404866G>ACA368219692COL1A2c.406G>A (p.Gly136Ser)
c.400G>A (p.Gly134Ser)
7g.94404866G>CCA368219693COL1A2c.406G>C (p.Gly136Arg)
c.400G>C (p.Gly134Arg)
7g.94404866G>TCA368219694COL1A2c.406G>T (p.Gly136Cys)
c.400G>T (p.Gly134Cys)
7g.94404867G>ACA16605302COL1A2c.407G>A (p.Gly136Asp)
c.401G>A (p.Gly134Asp)
 ClinVar dbSNP COSMIC
7g.94404867G>CCA368219695COL1A2c.407G>C (p.Gly136Ala)
c.401G>C (p.Gly134Ala)
7g.94404867G=CA1726792263COL1A2c.407G= (p.Gly136=)
c.401G= (p.Gly134=)
7g.94404867G>TCA368219696COL1A2c.407G>T (p.Gly136Val)
c.401G>T (p.Gly134Val)
7g.94404867_94404868insACA1104605249COL1A2c.407_408insA (p.Pro138SerfsTer6)
c.401_402insA (p.Pro136SerfsTer6)
 gnomAD v3 gnomAD v4
7g.94404868C>ACA456487333COL1A2c.408C>A (p.Gly136=)
c.402C>A (p.Gly134=)
 dbSNP
7g.94404868C=CA1726792264COL1A2c.408C= (p.Gly136=)
c.402C= (p.Gly134=)
7g.94404868C>GCA456487332COL1A2c.408C>G (p.Gly136=)
c.402C>G (p.Gly134=)
7g.94404868C>TCA456487331COL1A2c.408C>T (p.Gly136=)
c.402C>T (p.Gly134=)
 gnomAD v4
7g.94404869C>ACA368219697COL1A2c.409C>A (p.Pro137Thr)
c.403C>A (p.Pro135Thr)
7g.94404869C>GCA368219698COL1A2c.409C>G (p.Pro137Ala)
c.403C>G (p.Pro135Ala)
7g.94404869C>TCA368219699COL1A2c.409C>T (p.Pro137Ser)
c.403C>T (p.Pro135Ser)
7g.94404869_94404870delinsAACA645565821COL1A2c.409_410delinsAA (p.Pro137Asn)
c.403_404delinsAA (p.Pro135Asn)
 COSMIC
7g.94404870C>ACA368219702COL1A2c.410C>A (p.Pro137His)
c.404C>A (p.Pro135His)
7g.94404870C>GCA368219701COL1A2c.410C>G (p.Pro137Arg)
c.404C>G (p.Pro135Arg)
7g.94404870C>TCA368219700COL1A2c.410C>T (p.Pro137Leu)
c.404C>T (p.Pro135Leu)
7g.94404871T>ACA456487336COL1A2c.411T>A (p.Pro137=)
c.405T>A (p.Pro135=)
 COSMIC
7g.94404871T>CCA456487337COL1A2c.411T>C (p.Pro137=)
c.405T>C (p.Pro135=)
7g.94404871T>GCA456487338COL1A2c.411T>G (p.Pro137=)
c.405T>G (p.Pro135=)
7g.94404872C>ACA368219703COL1A2c.412C>A (p.Pro138Thr)
c.406C>A (p.Pro136Thr)
7g.94404872C>GCA368219704COL1A2c.412C>G (p.Pro138Ala)
c.406C>G (p.Pro136Ala)
 gnomAD v4
7g.94404872C>TCA368219705COL1A2c.412C>T (p.Pro138Ser)
c.406C>T (p.Pro136Ser)
 ClinVar
7g.94404873C>ACA368219706COL1A2c.413C>A (p.Pro138His)
c.407C>A (p.Pro136His)
7g.94404873C>GCA368219707COL1A2c.413C>G (p.Pro138Arg)
c.407C>G (p.Pro136Arg)
7g.94404873C>TCA368219708COL1A2c.413C>T (p.Pro138Leu)
c.407C>T (p.Pro136Leu)
7g.94404874T>ACA456487340COL1A2c.414T>A (p.Pro138=)
c.408T>A (p.Pro136=)
7g.94404874T>CCA456487341COL1A2c.414T>C (p.Pro138=)
c.408T>C (p.Pro136=)
7g.94404874T>GCA456487343COL1A2c.414T>G (p.Pro138=)
c.408T>G (p.Pro136=)
7g.94404875G>ACA368219709COL1A2c.415G>A (p.Gly139Ser)
c.409G>A (p.Gly137Ser)
 gnomAD v4
7g.94404875G>CCA368219710COL1A2c.415G>C (p.Gly139Arg)
c.409G>C (p.Gly137Arg)
7g.94404875G>TCA368219711COL1A2c.415G>T (p.Gly139Cys)
c.409G>T (p.Gly137Cys)
7g.94404876G>ACA368219712COL1A2c.416G>A (p.Gly139Asp)
c.410G>A (p.Gly137Asp)
7g.94404876G>CCA368219713COL1A2c.416G>C (p.Gly139Ala)
c.410G>C (p.Gly137Ala)
7g.94404876G>TCA368219714COL1A2c.416G>T (p.Gly139Val)
c.410G>T (p.Gly137Val)
7g.94404877C>ACA456487345COL1A2c.417C>A (p.Gly139=)
c.411C>A (p.Gly137=)
7g.94404877C=CA1726792265COL1A2c.417C= (p.Gly139=)
c.411C= (p.Gly137=)
7g.94404877C>GCA456487346COL1A2c.417C>G (p.Gly139=)
c.411C>G (p.Gly137=)
7g.94404877C>TCA456487347COL1A2c.417C>T (p.Gly139=)
c.411C>T (p.Gly137=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.94404878A>CCA368219715COL1A2c.418A>C (p.Lys140Gln)
c.412A>C (p.Lys138Gln)
7g.94404878A>GCA368219717COL1A2c.418A>G (p.Lys140Glu)
c.412A>G (p.Lys138Glu)
7g.94404878A>TCA368219716COL1A2c.418A>T (p.Lys140Ter)
c.412A>T (p.Lys138Ter)
7g.94404879A>CCA368219718COL1A2c.419A>C (p.Lys140Thr)
c.413A>C (p.Lys138Thr)
7g.94404879A>GCA368219719COL1A2c.419A>G (p.Lys140Arg)
c.413A>G (p.Lys138Arg)
7g.94404879A>TCA368219720COL1A2c.419A>T (p.Lys140Met)
c.413A>T (p.Lys138Met)
 COSMIC
7g.94404880G>ACA456487352COL1A2c.420G>A (p.Lys140=)
c.414G>A (p.Lys138=)
7g.94404880G>CCA368219721COL1A2c.420G>C (p.Lys140Asn)
c.414G>C (p.Lys138Asn)
7g.94404880G>TCA368219722COL1A2c.420G>T (p.Lys140Asn)
c.414G>T (p.Lys138Asn)
7g.94404881G>ACA4346663COL1A2c.421G>A (p.Ala141Thr)
c.415G>A (p.Ala139Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404881G>CCA368219724COL1A2c.421G>C (p.Ala141Pro)
c.415G>C (p.Ala139Pro)
7g.94404881G=CA1726792266COL1A2c.421G= (p.Ala141=)
c.415G= (p.Ala139=)
7g.94404881G>TCA368219723COL1A2c.421G>T (p.Ala141Ser)
c.415G>T (p.Ala139Ser)
7g.94404882C>ACA368219725COL1A2c.422C>A (p.Ala141Asp)
c.416C>A (p.Ala139Asp)
7g.94404882C>GCA368219726COL1A2c.422C>G (p.Ala141Gly)
c.416C>G (p.Ala139Gly)
7g.94404882C>TCA368219727COL1A2c.422C>T (p.Ala141Val)
c.416C>T (p.Ala139Val)
7g.94404883T>ACA456487355COL1A2c.423T>A (p.Ala141=)
c.417T>A (p.Ala139=)
7g.94404883T>CCA456487356COL1A2c.423T>C (p.Ala141=)
c.417T>C (p.Ala139=)
 gnomAD v4
7g.94404883T>GCA456487357COL1A2c.423T>G (p.Ala141=)
c.417T>G (p.Ala139=)
7g.94404884G>ACA368219728COL1A2c.424G>A (p.Gly142Ser)
c.418G>A (p.Gly140Ser)
 ClinVar gnomAD v4
7g.94404884G>CCA368219729COL1A2c.424G>C (p.Gly142Arg)
c.418G>C (p.Gly140Arg)
7g.94404884G>TCA368219730COL1A2c.424G>T (p.Gly142Cys)
c.418G>T (p.Gly140Cys)
7g.94404885G>ACA368219733COL1A2c.425G>A (p.Gly142Asp)
c.419G>A (p.Gly140Asp)
7g.94404885G>CCA368219731COL1A2c.425G>C (p.Gly142Ala)
c.419G>C (p.Gly140Ala)
7g.94404885G>TCA368219732COL1A2c.425G>T (p.Gly142Val)
c.419G>T (p.Gly140Val)
7g.94404886T>ACA456487359COL1A2c.426T>A (p.Gly142=)
c.420T>A (p.Gly140=)
7g.94404886T>CCA456487360COL1A2c.426T>C (p.Gly142=)
c.420T>C (p.Gly140=)
7g.94404886T>GCA4346664COL1A2c.426T>G (p.Gly142=)
c.420T>G (p.Gly140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404886T=CA1726792267COL1A2c.426T= (p.Gly142=)
c.420T= (p.Gly140=)
7g.94404887G>ACA4346665COL1A2c.427G>A (p.Glu143Lys)
c.421G>A (p.Glu141Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404887G>CCA368219734COL1A2c.427G>C (p.Glu143Gln)
c.421G>C (p.Glu141Gln)
7g.94404887G=CA1726792268COL1A2c.427G= (p.Glu143=)
c.421G= (p.Glu141=)
7g.94404887G>TCA368219735COL1A2c.427G>T (p.Glu143Ter)
c.421G>T (p.Glu141Ter)
7g.94404888A>CCA368219736COL1A2c.428A>C (p.Glu143Ala)
c.422A>C (p.Glu141Ala)
 gnomAD v4
7g.94404888A>GCA368219737COL1A2c.428A>G (p.Glu143Gly)
c.422A>G (p.Glu141Gly)
7g.94404888A>TCA368219738COL1A2c.428A>T (p.Glu143Val)
c.422A>T (p.Glu141Val)
7g.94404889A=CA1726792269COL1A2c.429A= (p.Glu143=)
c.423A= (p.Glu141=)
7g.94404889A>CCA4346666COL1A2c.429A>C (p.Glu143Asp)
c.423A>C (p.Glu141Asp)
 dbSNP ExAC gnomAD v2
7g.94404889A>GCA456487364COL1A2c.429A>G (p.Glu143=)
c.423A>G (p.Glu141=)
7g.94404889A>TCA368219739COL1A2c.429A>T (p.Glu143Asp)
c.423A>T (p.Glu141Asp)
7g.94404890G>ACA162914477COL1A2c.430G>A (p.Asp144Asn)
c.424G>A (p.Asp142Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94404890G>CCA368219740COL1A2c.430G>C (p.Asp144His)
c.424G>C (p.Asp142His)
7g.94404890G=CA1726792270COL1A2c.430G= (p.Asp144=)
c.424G= (p.Asp142=)
7g.94404890G>TCA368219741COL1A2c.430G>T (p.Asp144Tyr)
c.424G>T (p.Asp142Tyr)
7g.94404891A=CA1726792271COL1A2c.431A= (p.Asp144=)
c.425A= (p.Asp142=)
7g.94404891A>CCA368219742COL1A2c.431A>C (p.Asp144Ala)
c.425A>C (p.Asp142Ala)
 ClinVar
7g.94404891A>GCA368219744COL1A2c.431A>G (p.Asp144Gly)
c.425A>G (p.Asp142Gly)
 ClinVar dbSNP
7g.94404891A>TCA368219743COL1A2c.431A>T (p.Asp144Val)
c.425A>T (p.Asp142Val)
 dbSNP gnomAD v3 gnomAD v4
7g.94404892T>ACA368219745COL1A2c.432T>A (p.Asp144Glu)
c.426T>A (p.Asp142Glu)
 gnomAD v4
7g.94404892T>CCA456487366COL1A2c.432T>C (p.Asp144=)
c.426T>C (p.Asp142=)
7g.94404892T>GCA368219746COL1A2c.432T>G (p.Asp144Glu)
c.426T>G (p.Asp142Glu)
 dbSNP
7g.94404892T=CA1726792273COL1A2c.432T= (p.Asp144=)
c.426T= (p.Asp142=)
7g.94404892_94404896delinsTGTAACA1726792272COL1A2c.432_432+4delinsTGTAA
c.426_426+4delinsTGTAA
7g.94404893G>ACA368219747COL1A2c.432+1G>A (n.432+1G>A)
c.426+1G>A (n.426+1G>A)
 ClinVar dbSNP
7g.94404893G>CCA368219748COL1A2c.432+1G>C (n.432+1G>C)
c.426+1G>C (n.426+1G>C)
 ClinVar
7g.94404893G=CA1726792275COL1A2c.432+1G= (n.432+1G=)
c.426+1G= (n.426+1G=)
7g.94404893G>TCA368219749COL1A2c.432+1G>T (n.432+1G>T)
c.426+1G>T (n.426+1G>T)
 ClinVar dbSNP gnomAD v4
7g.94404896_94404899delCA162914491COL1A2c.432+4_432+7del (n.432+4_432+7del)
c.426+4_426+7del (n.426+4_426+7del)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.94404893_94404904delinsGTAAGTATTTACCA1726792274COL1A2c.432+1_432+12delinsGTAAGTATTTAC (n.432+1_432+12delinsGTAAGTATTTAC)
c.426+1_426+12delinsGTAAGTATTTAC (n.426+1_426+12delinsGTAAGTATTTAC)
7g.94404893_94404894insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTCA2715125273COL1A2c.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT (n.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT)
c.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT (n.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGT)
 dbSNP
7g.94404893_94404894insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCACA2776991045COL1A2c.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA (n.432+1_432+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA)
c.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA (n.426+1_426+2insGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCA)
7g.94404894T>ACA368219750COL1A2c.432+2T>A (n.432+2T>A)
c.426+2T>A (n.426+2T>A)
 ClinVar dbSNP
7g.94404894T>CCA368219751COL1A2c.432+2T>C (n.432+2T>C)
c.426+2T>C (n.426+2T>C)
7g.94404894T>GCA368219752COL1A2c.432+2T>G (n.432+2T>G)
c.426+2T>G (n.426+2T>G)
7g.94404895_94404905delCA162914495COL1A2c.432+3_432+13del (n.432+3_432+13del)
c.426+3_426+13del (n.426+3_426+13del)
 ClinVar dbSNP
7g.94404895A>CCA2580615935COL1A2c.432+3A>C (n.432+3A>C)
c.426+3A>C (n.426+3A>C)
 ClinVar
7g.94404895A>TCA2776991046COL1A2c.432+3A>T (n.432+3A>T)
c.426+3A>T (n.426+3A>T)
7g.94404897G>ACA162914496COL1A2c.432+5G>A (n.432+5G>A)
c.426+5G>A (n.426+5G>A)
 ClinVar dbSNP gnomAD v4
7g.94404897G=CA1726792276COL1A2c.432+5G= (n.432+5G=)
c.426+5G= (n.426+5G=)
7g.94404898T>CCA162914497COL1A2c.432+6T>C (n.432+6T>C)
c.426+6T>C (n.426+6T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404898T=CA1726792277COL1A2c.432+6T= (n.432+6T=)
c.426+6T= (n.426+6T=)

Number of alleles fetched