Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188988189_188990680delinsTATGCAAAATCAAAC | CA913190219 | COL3A1 | c.582+55_798+320delinsTATGCAAAATCAAAC | ClinVar |
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188990083_188990098del | CA1139768232 | COL3A1 | c.691-13_693del | |
2 | g.188990095G>A | CA349848941 | COL3A1 | c.691-1G>A (n.691-1G>A) | ClinVar |
2 | g.188990095G>C | CA349848943 | COL3A1 | c.691-1G>C (n.691-1G>C) | |
2 | g.188990095G>T | CA349848944 | COL3A1 | c.691-1G>T (n.691-1G>T) | |
2 | g.188990096G>A | CA349848945 | COL3A1 | c.691G>A (p.Gly231Arg) | |
2 | g.188990096G>C | CA349848947 | COL3A1 | c.691G>C (p.Gly231Arg) | |
2 | g.188990096G>T | CA349848949 | COL3A1 | c.691G>T (p.Gly231Ter) | |
2 | g.188990097G>A | CA349848950 | COL3A1 | c.692G>A (p.Gly231Glu) | COSMIC COSMIC |
2 | g.188990097G>C | CA349848952 | COL3A1 | c.692G>C (p.Gly231Ala) | |
2 | g.188990097G>T | CA349848953 | COL3A1 | c.692G>T (p.Gly231Val) | |
2 | g.188990098A= | CA1315396632 | COL3A1 | c.693A= (p.Gly231=) | |
2 | g.188990098A>C | CA430309032 | COL3A1 | c.693A>C (p.Gly231=) | |
2 | g.188990098A>G | CA076821 | COL3A1 | c.693A>G (p.Gly231=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990098A>T | CA430309033 | COL3A1 | c.693A>T (p.Gly231=) | |
2 | g.188990099G>A | CA349848956 | COL3A1 | c.694G>A (p.Glu232Lys) | |
2 | g.188990099G>C | CA349848958 | COL3A1 | c.694G>C (p.Glu232Gln) | gnomAD v4 |
2 | g.188990099G>T | CA349848959 | COL3A1 | c.694G>T (p.Glu232Ter) | COSMIC COSMIC |
2 | g.188990100A= | CA1315396634 | COL3A1 | c.695A= (p.Glu232=) | |
2 | g.188990100A>C | CA076823 | COL3A1 | c.695A>C (p.Glu232Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990100A>G | CA349848963 | COL3A1 | c.695A>G (p.Glu232Gly) | |
2 | g.188990100A>T | CA349848961 | COL3A1 | c.695A>T (p.Glu232Val) | |
2 | g.188990101A= | CA1315396637 | COL3A1 | c.696A= (p.Glu232=) | |
2 | g.188990101A>C | CA349848965 | COL3A1 | c.696A>C (p.Glu232Asp) | |
2 | g.188990101A>G | CA007287 | COL3A1 | c.696A>G (p.Glu232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990101A>T | CA349848966 | COL3A1 | c.696A>T (p.Glu232Asp) | |
2 | g.188990102T>A | CA349848968 | COL3A1 | c.697T>A (p.Ser233Thr) | |
2 | g.188990102T>C | CA349848970 | COL3A1 | c.697T>C (p.Ser233Pro) | |
2 | g.188990102T>G | CA349848971 | COL3A1 | c.697T>G (p.Ser233Ala) | |
2 | g.188990103C>A | CA349848973 | COL3A1 | c.698C>A (p.Ser233Ter) | |
2 | g.188990103C>G | CA349848975 | COL3A1 | c.698C>G (p.Ser233Ter) | ClinVar dbSNP |
2 | g.188990103C>T | CA349848977 | COL3A1 | c.698C>T (p.Ser233Leu) | |
2 | g.188990104A>C | CA430309034 | COL3A1 | c.699A>C (p.Ser233=) | |
2 | g.188990104A>G | CA430309036 | COL3A1 | c.699A>G (p.Ser233=) | gnomAD v4 |
2 | g.188990104A>T | CA430309035 | COL3A1 | c.699A>T (p.Ser233=) | |
2 | g.188990105G>A | CA349848978 | COL3A1 | c.700G>A (p.Gly234Ser) | |
2 | g.188990105G>C | CA349848980 | COL3A1 | c.700G>C (p.Gly234Arg) | |
2 | g.188990105G>T | CA349848982 | COL3A1 | c.700G>T (p.Gly234Cys) | |
2 | g.188990106G>A | CA007294 | COL3A1 | c.701G>A (p.Gly234Asp) | ClinVar dbSNP |
2 | g.188990106G>C | CA349848983 | COL3A1 | c.701G>C (p.Gly234Ala) | |
2 | g.188990106G= | CA1315396639 | COL3A1 | c.701G= (p.Gly234=) | |
2 | g.188990106G>T | CA349848985 | COL3A1 | c.701G>T (p.Gly234Val) | |
2 | g.188990107T>A | CA430309037 | COL3A1 | c.702T>A (p.Gly234=) | |
2 | g.188990107T>C | CA430309038 | COL3A1 | c.702T>C (p.Gly234=) | gnomAD v4 |
2 | g.188990107T>G | CA430309039 | COL3A1 | c.702T>G (p.Gly234=) | |
2 | g.188990108A>C | CA430309040 | COL3A1 | c.703A>C (p.Arg235=) | |
2 | g.188990108A>G | CA349848988 | COL3A1 | c.703A>G (p.Arg235Gly) | |
2 | g.188990108A>T | CA349848987 | COL3A1 | c.703A>T (p.Arg235Ter) | |
2 | g.188990109G>A | CA349848989 | COL3A1 | c.704G>A (p.Arg235Lys) | |
2 | g.188990109G>C | CA349848990 | COL3A1 | c.704G>C (p.Arg235Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990109G= | CA1315396641 | COL3A1 | c.704G= (p.Arg235=) | |
2 | g.188990109G>T | CA076825 | COL3A1 | c.704G>T (p.Arg235Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990110A>C | CA349848992 | COL3A1 | c.705A>C (p.Arg235Ser) | |
2 | g.188990110A>G | CA430309041 | COL3A1 | c.705A>G (p.Arg235=) | |
2 | g.188990110A>T | CA349848994 | COL3A1 | c.705A>T (p.Arg235Ser) | |
2 | g.188990111C>A | CA349848996 | COL3A1 | c.706C>A (p.Pro236Thr) | |
2 | g.188990111C= | CA1315396642 | COL3A1 | c.706C= (p.Pro236=) | |
2 | g.188990111C>G | CA349848997 | COL3A1 | c.706C>G (p.Pro236Ala) | |
2 | g.188990111C>T | CA007305 | COL3A1 | c.706C>T (p.Pro236Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990112C>A | CA349848998 | COL3A1 | c.707C>A (p.Pro236His) | |
2 | g.188990112C= | CA1315396644 | COL3A1 | c.707C= (p.Pro236=) | |
2 | g.188990112C>G | CA349848999 | COL3A1 | c.707C>G (p.Pro236Arg) | ClinVar dbSNP |
2 | g.188990112C>T | CA349849000 | COL3A1 | c.707C>T (p.Pro236Leu) | ClinVar |
2 | g.188990113C>A | CA430309042 | COL3A1 | c.708C>A (p.Pro236=) | |
2 | g.188990113C= | CA1315396646 | COL3A1 | c.708C= (p.Pro236=) | |
2 | g.188990113C>G | CA076829 | COL3A1 | c.708C>G (p.Pro236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990113C>T | CA430309043 | COL3A1 | c.708C>T (p.Pro236=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.188990114G>A | CA007314 | COL3A1 | c.709G>A (p.Gly237Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.188990114G>C | CA349849002 | COL3A1 | c.709G>C (p.Gly237Arg) | |
2 | g.188990114G= | CA1315396649 | COL3A1 | c.709G= (p.Gly237=) | |
2 | g.188990114G>T | CA349849001 | COL3A1 | c.709G>T (p.Gly237Ter) | |
2 | g.188990115G>A | CA349849003 | COL3A1 | c.710G>A (p.Gly237Glu) | |
2 | g.188990115G>C | CA349849004 | COL3A1 | c.710G>C (p.Gly237Ala) | |
2 | g.188990115G>T | CA349849005 | COL3A1 | c.710G>T (p.Gly237Val) | |
2 | g.188990116A>C | CA430309044 | COL3A1 | c.711A>C (p.Gly237=) | |
2 | g.188990116A>G | CA430309045 | COL3A1 | c.711A>G (p.Gly237=) | ClinVar dbSNP |
2 | g.188990116A>T | CA430309046 | COL3A1 | c.711A>T (p.Gly237=) | |
2 | g.188990117C>A | CA430309047 | COL3A1 | c.712C>A (p.Arg238=) | |
2 | g.188990117C= | CA1315396651 | COL3A1 | c.712C= (p.Arg238=) | |
2 | g.188990117C>G | CA349849006 | COL3A1 | c.712C>G (p.Arg238Gly) | |
2 | g.188990117C>T | CA349849007 | COL3A1 | c.712C>T (p.Arg238Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188990118G>A | CA076831 | COL3A1 | c.713G>A (p.Arg238Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188990118G>C | CA349849009 | COL3A1 | c.713G>C (p.Arg238Pro) | |
2 | g.188990118G= | CA1315396653 | COL3A1 | c.713G= (p.Arg238=) | |
2 | g.188990118G>T | CA349849008 | COL3A1 | c.713G>T (p.Arg238Leu) | |
2 | g.188990119A>C | CA430309048 | COL3A1 | c.714A>C (p.Arg238=) | |
2 | g.188990119A>G | CA430309049 | COL3A1 | c.714A>G (p.Arg238=) | |
2 | g.188990119A>T | CA430309050 | COL3A1 | c.714A>T (p.Arg238=) | |
2 | g.188990120C>A | CA349849010 | COL3A1 | c.715C>A (p.Pro239Thr) | gnomAD v4 |
2 | g.188990120C>G | CA349849011 | COL3A1 | c.715C>G (p.Pro239Ala) | |
2 | g.188990120C>T | CA349849012 | COL3A1 | c.715C>T (p.Pro239Ser) | |
2 | g.188990121C>A | CA349849013 | COL3A1 | c.716C>A (p.Pro239His) | ClinVar dbSNP |
2 | g.188990121C= | CA1315396656 | COL3A1 | c.716C= (p.Pro239=) | |
2 | g.188990121C>G | CA349849014 | COL3A1 | c.716C>G (p.Pro239Arg) | |
2 | g.188990121C>T | CA349849015 | COL3A1 | c.716C>T (p.Pro239Leu) | |
2 | g.188990122T>A | CA430309051 | COL3A1 | c.717T>A (p.Pro239=) | |
2 | g.188990122T>C | CA430309052 | COL3A1 | c.717T>C (p.Pro239=) | gnomAD v4 |
2 | g.188990122T>G | CA430309053 | COL3A1 | c.717T>G (p.Pro239=) | |
2 | g.188990123G>A | CA349849016 | COL3A1 | c.718G>A (p.Gly240Arg) | dbSNP gnomAD v2 |
2 | g.188990123G>C | CA007322 | COL3A1 | c.718G>C (p.Gly240Arg) | ClinVar dbSNP |
2 | g.188990123G= | CA1315396659 | COL3A1 | c.718G= (p.Gly240=) | |
2 | g.188990123G>T | CA349849017 | COL3A1 | c.718G>T (p.Gly240Ter) | |
2 | g.188990124G>A | CA349849018 | COL3A1 | c.719G>A (p.Gly240Glu) | COSMIC COSMIC |
2 | g.188990124G>C | CA349849019 | COL3A1 | c.719G>C (p.Gly240Ala) | |
2 | g.188990124G>T | CA349849020 | COL3A1 | c.719G>T (p.Gly240Val) | |
2 | g.188990125A>C | CA430309055 | COL3A1 | c.720A>C (p.Gly240=) | |
2 | g.188990125A>G | CA430309056 | COL3A1 | c.720A>G (p.Gly240=) | |
2 | g.188990125A>T | CA430309054 | COL3A1 | c.720A>T (p.Gly240=) | |
2 | g.188990126G>A | CA349849021 | COL3A1 | c.721G>A (p.Glu241Lys) | ClinVar dbSNP |
2 | g.188990126G>C | CA349849022 | COL3A1 | c.721G>C (p.Glu241Gln) | gnomAD v4 |
2 | g.188990126G= | CA1315396666 | COL3A1 | c.721G= (p.Glu241=) | |
2 | g.188990126G>T | CA349849023 | COL3A1 | c.721G>T (p.Glu241Ter) | |
2 | g.188990127A= | CA1315396668 | COL3A1 | c.722A= (p.Glu241=) | |
2 | g.188990127A>C | CA349849024 | COL3A1 | c.722A>C (p.Glu241Ala) | |
2 | g.188990127A>G | CA62590260 | COL3A1 | c.722A>G (p.Glu241Gly) | dbSNP |
2 | g.188990127A>T | CA349849025 | COL3A1 | c.722A>T (p.Glu241Val) | |
2 | g.188990128G>A | CA430309057 | COL3A1 | c.723G>A (p.Glu241=) | |
2 | g.188990128G>C | CA349849026 | COL3A1 | c.723G>C (p.Glu241Asp) | gnomAD v4 |
2 | g.188990128G>T | CA349849027 | COL3A1 | c.723G>T (p.Glu241Asp) | ClinVar |
2 | g.188990129C>A | CA430309058 | COL3A1 | c.724C>A (p.Arg242=) | |
2 | g.188990129C= | CA1315396672 | COL3A1 | c.724C= (p.Arg242=) | |
2 | g.188990129C>G | CA349849028 | COL3A1 | c.724C>G (p.Arg242Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.188990129C>T | CA349849029 | COL3A1 | c.724C>T (p.Arg242Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990130G>A | CA076833 | COL3A1 | c.725G>A (p.Arg242Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990130G>C | CA349849031 | COL3A1 | c.725G>C (p.Arg242Pro) | |
2 | g.188990130G= | CA1315396677 | COL3A1 | c.725G= (p.Arg242=) | |
2 | g.188990130G>T | CA349849030 | COL3A1 | c.725G>T (p.Arg242Leu) | |
2 | g.188990131A>C | CA430309059 | COL3A1 | c.726A>C (p.Arg242=) | |
2 | g.188990131A>G | CA430309061 | COL3A1 | c.726A>G (p.Arg242=) | |
2 | g.188990131A>T | CA430309060 | COL3A1 | c.726A>T (p.Arg242=) | |
2 | g.188990132G>A | CA349849032 | COL3A1 | c.727G>A (p.Gly243Arg) | |
2 | g.188990132G>C | CA349849034 | COL3A1 | c.727G>C (p.Gly243Arg) | ClinVar |
2 | g.188990132G>T | CA349849033 | COL3A1 | c.727G>T (p.Gly243Ter) | |
2 | g.188990133G>A | CA007327 | COL3A1 | c.728G>A (p.Gly243Glu) | ClinVar dbSNP COSMIC COSMIC |
2 | g.188990133G>C | CA349849035 | COL3A1 | c.728G>C (p.Gly243Ala) | |
2 | g.188990133G= | CA1315396685 | COL3A1 | c.728G= (p.Gly243=) | |
2 | g.188990133G>T | CA007335 | COL3A1 | c.728G>T (p.Gly243Val) | ClinVar dbSNP |
2 | g.188990134A>C | CA430309062 | COL3A1 | c.729A>C (p.Gly243=) | |
2 | g.188990134A>G | CA430309063 | COL3A1 | c.729A>G (p.Gly243=) | ClinVar |
2 | g.188990134A>T | CA430309064 | COL3A1 | c.729A>T (p.Gly243=) | |
2 | g.188990135T>A | CA349849036 | COL3A1 | c.730T>A (p.Leu244Met) | |
2 | g.188990135T>C | CA430309065 | COL3A1 | c.730T>C (p.Leu244=) | |
2 | g.188990135T>G | CA349849037 | COL3A1 | c.730T>G (p.Leu244Val) | |
2 | g.188990136T>A | CA349849038 | COL3A1 | c.731T>A (p.Leu244Ter) | |
2 | g.188990136T>C | CA349849039 | COL3A1 | c.731T>C (p.Leu244Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990136T>G | CA349849040 | COL3A1 | c.731T>G (p.Leu244Trp) | |
2 | g.188990136T= | CA1315396691 | COL3A1 | c.731T= (p.Leu244=) | |
2 | g.188990137G>A | CA430309066 | COL3A1 | c.732G>A (p.Leu244=) | gnomAD v4 |
2 | g.188990137G>C | CA349849041 | COL3A1 | c.732G>C (p.Leu244Phe) | |
2 | g.188990137G>T | CA349849043 | COL3A1 | c.732G>T (p.Leu244Phe) | |
2 | g.188990138C>A | CA349849045 | COL3A1 | c.733C>A (p.Pro245Thr) | |
2 | g.188990138C>G | CA349849047 | COL3A1 | c.733C>G (p.Pro245Ala) | |
2 | g.188990138C>T | CA349849048 | COL3A1 | c.733C>T (p.Pro245Ser) | |
2 | g.188990139C>A | CA349849049 | COL3A1 | c.734C>A (p.Pro245His) | |
2 | g.188990139C>G | CA349849050 | COL3A1 | c.734C>G (p.Pro245Arg) | |
2 | g.188990139C>T | CA349849052 | COL3A1 | c.734C>T (p.Pro245Leu) | |
2 | g.188990140T>A | CA430309067 | COL3A1 | c.735T>A (p.Pro245=) | |
2 | g.188990140T>C | CA430309068 | COL3A1 | c.735T>C (p.Pro245=) | |
2 | g.188990140T>G | CA430309069 | COL3A1 | c.735T>G (p.Pro245=) | |
2 | g.188990141G>A | CA349849054 | COL3A1 | c.736G>A (p.Gly246Arg) | |
2 | g.188990141G>C | CA349849057 | COL3A1 | c.736G>C (p.Gly246Arg) | |
2 | g.188990141G>T | CA349849056 | COL3A1 | c.736G>T (p.Gly246Ter) | |
2 | g.188990142del | CA2586965486 | COL3A1 | c.737del (p.Gly246AspfsTer17) | |
2 | g.188990142G>A | CA007342 | COL3A1 | c.737G>A (p.Gly246Glu) | ClinVar dbSNP |
2 | g.188990142G>C | CA349849060 | COL3A1 | c.737G>C (p.Gly246Ala) | |
2 | g.188990142G= | CA1315396695 | COL3A1 | c.737G= (p.Gly246=) | |
2 | g.188990142G>T | CA349849062 | COL3A1 | c.737G>T (p.Gly246Val) | |
2 | g.188990143A>C | CA430309070 | COL3A1 | c.738A>C (p.Gly246=) | |
2 | g.188990143A>G | CA430309071 | COL3A1 | c.738A>G (p.Gly246=) | |
2 | g.188990143A>T | CA430309072 | COL3A1 | c.738A>T (p.Gly246=) | |
2 | g.188990144C>A | CA349849063 | COL3A1 | c.739C>A (p.Pro247Thr) | ClinVar dbSNP |
2 | g.188990144C= | CA1315396704 | COL3A1 | c.739C= (p.Pro247=) | |
2 | g.188990144C>G | CA349849064 | COL3A1 | c.739C>G (p.Pro247Ala) | |
2 | g.188990144C>T | CA349849066 | COL3A1 | c.739C>T (p.Pro247Ser) | |
2 | g.188990145C>A | CA349849067 | COL3A1 | c.740C>A (p.Pro247His) | |
2 | g.188990145C>G | CA349849069 | COL3A1 | c.740C>G (p.Pro247Arg) | gnomAD v4 |
2 | g.188990145C>T | CA349849070 | COL3A1 | c.740C>T (p.Pro247Leu) | ClinVar |
2 | g.188990146T>A | CA430309073 | COL3A1 | c.741T>A (p.Pro247=) | |
2 | g.188990146T>C | CA430309075 | COL3A1 | c.741T>C (p.Pro247=) | |
2 | g.188990146T>G | CA430309074 | COL3A1 | c.741T>G (p.Pro247=) | |
2 | g.188990147C>A | CA62590291 | COL3A1 | c.742C>A (p.Pro248Thr) | dbSNP |
2 | g.188990147C= | CA1315396708 | COL3A1 | c.742C= (p.Pro248=) | |
2 | g.188990147C>G | CA349849074 | COL3A1 | c.742C>G (p.Pro248Ala) | |
2 | g.188990147C>T | CA349849072 | COL3A1 | c.742C>T (p.Pro248Ser) | gnomAD v4 COSMIC |
2 | g.188990148C>A | CA349849076 | COL3A1 | c.743C>A (p.Pro248Gln) | |
2 | g.188990148C>G | CA349849077 | COL3A1 | c.743C>G (p.Pro248Arg) | |
2 | g.188990148C>T | CA349849079 | COL3A1 | c.743C>T (p.Pro248Leu) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.188990149A= | CA1315396711 | COL3A1 | c.744A= (p.Pro248=) | |
2 | g.188990149A>C | CA430309076 | COL3A1 | c.744A>C (p.Pro248=) | |
2 | g.188990149A>G | CA076849 | COL3A1 | c.744A>G (p.Pro248=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990149A>T | CA430309077 | COL3A1 | c.744A>T (p.Pro248=) | |
2 | g.188990152_188990155dup | CA2586965487 | COL3A1 | c.744+3_744+6dup | gnomAD v4 |
2 | g.188990150G>A | CA349849080 | COL3A1 | c.744+1G>A (n.744+1G>A) | |
2 | g.188990150G>C | CA349849082 | COL3A1 | c.744+1G>C (n.744+1G>C) | |
2 | g.188990150G>T | CA349849083 | COL3A1 | c.744+1G>T (n.744+1G>T) | |
2 | g.188990151T>A | CA349849084 | COL3A1 | c.744+2T>A (n.744+2T>A) | |
2 | g.188990151T>C | CA349849086 | COL3A1 | c.744+2T>C (n.744+2T>C) | |
2 | g.188990151T>G | CA349849088 | COL3A1 | c.744+2T>G (n.744+2T>G) | |
2 | g.188990156C= | CA1315396714 | COL3A1 | c.744+7C= (n.744+7C=) | |
2 | g.188990156C>G | CA62590315 | COL3A1 | c.744+7C>G (n.744+7C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990159C>A | CA076835 | COL3A1 | c.744+10C>A (n.744+10C>A) | dbSNP ExAC gnomAD v2 |
2 | g.188990159C= | CA1315396716 | COL3A1 | c.744+10C= (n.744+10C=) | |
2 | g.188990159C>T | CA538441091 | COL3A1 | c.744+10C>T (n.744+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188990160A= | CA1315396718 | COL3A1 | c.744+11A= (n.744+11A=) | |
2 | g.188990160A>G | CA076837 | COL3A1 | c.744+11A>G (n.744+11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990161G>A | CA076838 | COL3A1 | c.744+12G>A (n.744+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990161G>C | CA2577185177 | COL3A1 | c.744+12G>C (n.744+12G>C) | |
2 | g.188990161G= | CA1315396720 | COL3A1 | c.744+12G= (n.744+12G=) | |
2 | g.188990163A= | CA1315396722 | COL3A1 | c.744+14A= (n.744+14A=) | |
2 | g.188990163A>G | CA538441092 | COL3A1 | c.744+14A>G (n.744+14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990164T>C | CA076840 | COL3A1 | c.744+15T>C (n.744+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990164T= | CA1315396725 | COL3A1 | c.744+15T= (n.744+15T=) | |
2 | g.188990166T>C | CA2662287064 | COL3A1 | c.744+17T>C (n.744+17T>C) | gnomAD v4 |
2 | g.188990167A>G | CA2662287066 | COL3A1 | c.744+18A>G (n.744+18A>G) | gnomAD v4 |
2 | g.188990169T>C | CA076842 | COL3A1 | c.744+20T>C (n.744+20T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188990169T= | CA1315396727 | COL3A1 | c.744+20T= (n.744+20T=) | |
2 | g.188990173T>C | CA62590361 | COL3A1 | c.744+24T>C (n.744+24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990173T= | CA1315396730 | COL3A1 | c.744+24T= (n.744+24T=) | |
2 | g.188990176A= | CA1315396732 | COL3A1 | c.744+27A= (n.744+27A=) | |
2 | g.188990176A>C | CA076843 | COL3A1 | c.744+27A>C (n.744+27A>C) | dbSNP ExAC |
2 | g.188990176A>G | CA2577185178 | COL3A1 | c.744+27A>G (n.744+27A>G) | gnomAD v4 |
2 | g.188990177T>C | CA2662287069 | COL3A1 | c.744+28T>C (n.744+28T>C) | gnomAD v4 |
2 | g.188990178T>C | CA2662287071 | COL3A1 | c.744+29T>C (n.744+29T>C) | gnomAD v4 |
2 | g.188990179G>A | CA762192166 | COL3A1 | c.744+30G>A (n.744+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990179G= | CA1315396734 | COL3A1 | c.744+30G= (n.744+30G=) | |
2 | g.188990183T>G | CA1040404919 | COL3A1 | c.744+34T>G (n.744+34T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188990183T= | CA1315396735 | COL3A1 | c.744+34T= (n.744+34T=) | |
2 | g.188990186T>C | CA538441093 | COL3A1 | c.744+37T>C (n.744+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188990186T= | CA1315396737 | COL3A1 | c.744+37T= (n.744+37T=) | |
2 | g.188990190A= | CA1315396738 | COL3A1 | c.744+41A= (n.744+41A=) | |
2 | g.188990190A>G | CA076845 | COL3A1 | c.744+41A>G (n.744+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188990191G>A | CA1315396741 | COL3A1 | c.744+42G>A (n.744+42G>A) | dbSNP gnomAD v4 |
2 | g.188990191G= | CA1315396740 | COL3A1 | c.744+42G= (n.744+42G=) | |
2 | g.188990192C>A | CA2662287075 | COL3A1 | c.744+43C>A (n.744+43C>A) | gnomAD v4 |
2 | g.188990193T>G | CA538441094 | COL3A1 | c.744+44T>G (n.744+44T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188990193T= | CA1315396742 | COL3A1 | c.744+44T= (n.744+44T=) | |
2 | g.188990195G>A | CA2662287076 | COL3A1 | c.744+46G>A (n.744+46G>A) | gnomAD v4 |
2 | g.188990195G>C | CA2701315181 | COL3A1 | c.744+46G>C (n.744+46G>C) | dbSNP |