Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188994964_188998496delCA285891COL3A1c.1357-82_1879-178del
c.1456-82_1978-178del
 ClinVar
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188996511_188997600delCA913190214COL3A1c.1662+15_1771-100del
c.1761+15_1870-100del
 ClinVar
2g.188997305_188997307delCA2753572328COL3A1c.1717-31_1717-29del (n.1717-31_1717-29del)
c.1816-31_1816-29del (n.1816-31_1816-29del)
2g.188997306T=CA1315399980COL3A1c.1717-30T= (n.1717-30T=)
c.1816-30T= (n.1816-30T=)
2g.188997306_188997307insGTCTCATATATACA2559692743COL3A1c.1717-30_1717-29insGTCTCATATATA (n.1717-30_1717-29insGTCTCATATATA)
c.1816-30_1816-29insGTCTCATATATA (n.1816-30_1816-29insGTCTCATATATA)
2g.188997306_188997307insGTCTCATATATATATGCA538441367COL3A1c.1717-30_1717-29insGTCTCATATATATATG (n.1717-30_1717-29insGTCTCATATATATATG)
c.1816-30_1816-29insGTCTCATATATATATG (n.1816-30_1816-29insGTCTCATATATATATG)
 dbSNP gnomAD v2
2g.188997307T>CCA2662308458COL3A1c.1717-29T>C (n.1717-29T>C)
c.1816-29T>C (n.1816-29T>C)
 gnomAD v4
2g.188997309T>ACA2753572329COL3A1c.1717-27T>A (n.1717-27T>A)
c.1816-27T>A (n.1816-27T>A)
2g.188997310A=CA1315399981COL3A1c.1717-26A= (n.1717-26A=)
c.1816-26A= (n.1816-26A=)
2g.188997310A>GCA62598846COL3A1c.1717-26A>G (n.1717-26A>G)
c.1816-26A>G (n.1816-26A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.188997310_188997311insGGCA2753572331COL3A1c.1717-26_1717-25insGG (n.1717-26_1717-25insGG)
c.1816-26_1816-25insGG (n.1816-26_1816-25insGG)
2g.188997312T>ACA1315399983COL3A1c.1717-24T>A (n.1717-24T>A)
c.1816-24T>A (n.1816-24T>A)
 dbSNP gnomAD v4
2g.188997312T=CA1315399982COL3A1c.1717-24T= (n.1717-24T=)
c.1816-24T= (n.1816-24T=)
2g.188997314C>GCA2753572332COL3A1c.1717-22C>G (n.1717-22C>G)
c.1816-22C>G (n.1816-22C>G)
2g.188997315C>ACA2662308459COL3A1c.1717-21C>A (n.1717-21C>A)
c.1816-21C>A (n.1816-21C>A)
 gnomAD v4
2g.188997315C>TCA2662308460COL3A1c.1717-21C>T (n.1717-21C>T)
c.1816-21C>T (n.1816-21C>T)
 gnomAD v4
2g.188997317T>CCA004579COL3A1c.1717-19T>C (n.1717-19T>C)
c.1816-19T>C (n.1816-19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997317T=CA1315399984COL3A1c.1717-19T= (n.1717-19T=)
c.1816-19T= (n.1816-19T=)
2g.188997318A=CA1315399985COL3A1c.1717-18A= (n.1717-18A=)
c.1816-18A= (n.1816-18A=)
2g.188997318A>CCA2662308461COL3A1c.1717-18A>C (n.1717-18A>C)
c.1816-18A>C (n.1816-18A>C)
 gnomAD v4
2g.188997318A>GCA62598856COL3A1c.1717-18A>G (n.1717-18A>G)
c.1816-18A>G (n.1816-18A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.188997319A=CA1315399986COL3A1c.1717-17A= (n.1717-17A=)
c.1816-17A= (n.1816-17A=)
2g.188997319A>TCA074688COL3A1c.1717-17A>T (n.1717-17A>T)
c.1816-17A>T (n.1816-17A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188997321T>GCA2739279665COL3A1c.1717-15T>G (n.1717-15T>G)
c.1816-15T>G (n.1816-15T>G)
 ClinVar
2g.188997322G>ACA2573133086COL3A1c.1717-14G>A (n.1717-14G>A)
c.1816-14G>A (n.1816-14G>A)
 ClinVar dbSNP gnomAD v4
2g.188997322G>CCA004573COL3A1c.1717-14G>C (n.1717-14G>C)
c.1816-14G>C (n.1816-14G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997322G=CA1315399987COL3A1c.1717-14G= (n.1717-14G=)
c.1816-14G= (n.1816-14G=)
2g.188997322G>TCA2581840822COL3A1c.1717-14G>T (n.1717-14G>T)
c.1816-14G>T (n.1816-14G>T)
2g.188997324T>ACA2753572335COL3A1c.1717-12T>A (n.1717-12T>A)
c.1816-12T>A (n.1816-12T>A)
2g.188997325C>ACA2577185549COL3A1c.1717-11C>A (n.1717-11C>A)
c.1816-11C>A (n.1816-11C>A)
2g.188997326_188997333delCA2753572336COL3A1c.1717-10_1717-3del (n.1717-10_1717-3del)
c.1816-10_1816-3del (n.1816-10_1816-3del)
2g.188997330T>GCA538441368COL3A1c.1717-6T>G (n.1717-6T>G)
c.1816-6T>G (n.1816-6T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188997330T=CA1315399988COL3A1c.1717-6T= (n.1717-6T=)
c.1816-6T= (n.1816-6T=)
2g.188997332T>CCA074705COL3A1c.1717-4T>C (n.1717-4T>C)
c.1816-4T>C (n.1816-4T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997332T=CA1315399989COL3A1c.1717-4T= (n.1717-4T=)
c.1816-4T= (n.1816-4T=)
2g.188997333T>GCA2577185550COL3A1c.1717-3T>G (n.1717-3T>G)
c.1816-3T>G (n.1816-3T>G)
2g.188997334A>CCA349853357COL3A1c.1717-2A>C (n.1717-2A>C)
c.1816-2A>C (n.1816-2A>C)
2g.188997334A>GCA349853360COL3A1c.1717-2A>G (n.1717-2A>G)
c.1816-2A>G (n.1816-2A>G)
 ClinVar
2g.188997334A>TCA349853362COL3A1c.1717-2A>T (n.1717-2A>T)
c.1816-2A>T (n.1816-2A>T)
2g.188997335G>ACA349853363COL3A1c.1717-1G>A (n.1717-1G>A)
c.1816-1G>A (n.1816-1G>A)
 COSMIC COSMIC
2g.188997335G>CCA349853364COL3A1c.1717-1G>C (n.1717-1G>C)
c.1816-1G>C (n.1816-1G>C)
2g.188997335G>TCA349853365COL3A1c.1717-1G>T (n.1717-1G>T)
c.1816-1G>T (n.1816-1G>T)
2g.188997336G>ACA349853367COL3A1c.1717G>A (p.Gly573Ser)
c.1816G>A (p.Gly606Ser)
 COSMIC
2g.188997336G>CCA004587COL3A1c.1717G>C (p.Gly573Arg)
c.1816G>C (p.Gly606Arg)
 ClinVar dbSNP
2g.188997336G=CA1315399990COL3A1c.1717G= (p.Gly573=)
c.1816G= (p.Gly606=)
2g.188997336G>TCA349853366COL3A1c.1717G>T (p.Gly573Cys)
c.1816G>T (p.Gly606Cys)
 ClinVar
2g.188997337G>ACA349853370COL3A1c.1718G>A (p.Gly573Asp)
c.1817G>A (p.Gly606Asp)
 ClinVar
2g.188997337G>CCA349853374COL3A1c.1718G>C (p.Gly573Ala)
c.1817G>C (p.Gly606Ala)
2g.188997337G>TCA349853372COL3A1c.1718G>T (p.Gly573Val)
c.1817G>T (p.Gly606Val)
2g.188997338T>ACA430309923COL3A1c.1719T>A (p.Gly573=)
c.1818T>A (p.Gly606=)
2g.188997338T>CCA430309921COL3A1c.1719T>C (p.Gly573=)
c.1818T>C (p.Gly606=)
2g.188997338T>GCA430309922COL3A1c.1719T>G (p.Gly573=)
c.1818T>G (p.Gly606=)
 ClinVar
2g.188997339C>ACA349853376COL3A1c.1720C>A (p.Pro574Thr)
c.1819C>A (p.Pro607Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188997339C=CA1315399991COL3A1c.1720C= (p.Pro574=)
c.1819C= (p.Pro607=)
2g.188997339C>GCA074709COL3A1c.1720C>G (p.Pro574Ala)
c.1819C>G (p.Pro607Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997339C>TCA074713COL3A1c.1720C>T (p.Pro574Ser)
c.1819C>T (p.Pro607Ser)
 dbSNP ExAC gnomAD v2
2g.188997340C>ACA349853379COL3A1c.1721C>A (p.Pro574His)
c.1820C>A (p.Pro607His)
2g.188997340C=CA1315399992COL3A1c.1721C= (p.Pro574=)
c.1820C= (p.Pro607=)
2g.188997340C>GCA349853381COL3A1c.1721C>G (p.Pro574Arg)
c.1820C>G (p.Pro607Arg)
2g.188997340C>TCA16610548COL3A1c.1721C>T (p.Pro574Leu)
c.1820C>T (p.Pro607Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188997341T>ACA430309924COL3A1c.1722T>A (p.Pro574=)
c.1821T>A (p.Pro607=)
2g.188997341T>CCA430309926COL3A1c.1722T>C (p.Pro574=)
c.1821T>C (p.Pro607=)
2g.188997341T>GCA430309925COL3A1c.1722T>G (p.Pro574=)
c.1821T>G (p.Pro607=)
2g.188997342C>ACA349853383COL3A1c.1723C>A (p.Pro575Thr)
c.1822C>A (p.Pro608Thr)
2g.188997342C>GCA349853384COL3A1c.1723C>G (p.Pro575Ala)
c.1822C>G (p.Pro608Ala)
2g.188997342C>TCA349853385COL3A1c.1723C>T (p.Pro575Ser)
c.1822C>T (p.Pro608Ser)
 gnomAD v4 COSMIC
2g.188997343C>ACA349853387COL3A1c.1724C>A (p.Pro575His)
c.1823C>A (p.Pro608His)
2g.188997343C>GCA349853389COL3A1c.1724C>G (p.Pro575Arg)
c.1823C>G (p.Pro608Arg)
2g.188997343C>TCA349853391COL3A1c.1724C>T (p.Pro575Leu)
c.1823C>T (p.Pro608Leu)
2g.188997344T>ACA430309927COL3A1c.1725T>A (p.Pro575=)
c.1824T>A (p.Pro608=)
2g.188997344T>CCA430309928COL3A1c.1725T>C (p.Pro575=)
c.1824T>C (p.Pro608=)
2g.188997344T>GCA430309929COL3A1c.1725T>G (p.Pro575=)
c.1824T>G (p.Pro608=)
 gnomAD v4
2g.188997345G>ACA62598923COL3A1c.1726G>A (p.Gly576Arg)
c.1825G>A (p.Gly609Arg)
 dbSNP
2g.188997345G>CCA349853394COL3A1c.1726G>C (p.Gly576Arg)
c.1825G>C (p.Gly609Arg)
2g.188997345G=CA1315399993COL3A1c.1726G= (p.Gly576=)
c.1825G= (p.Gly609=)
2g.188997345G>TCA349853395COL3A1c.1726G>T (p.Gly576Ter)
c.1825G>T (p.Gly609Ter)
2g.188997346G>ACA349853397COL3A1c.1727G>A (p.Gly576Glu)
c.1826G>A (p.Gly609Glu)
 ClinVar COSMIC COSMIC
2g.188997346G>CCA349853398COL3A1c.1727G>C (p.Gly576Ala)
c.1826G>C (p.Gly609Ala)
2g.188997346G>TCA349853399COL3A1c.1727G>T (p.Gly576Val)
c.1826G>T (p.Gly609Val)
2g.188997347A>CCA430309930COL3A1c.1728A>C (p.Gly576=)
c.1827A>C (p.Gly609=)
2g.188997347A>GCA430309931COL3A1c.1728A>G (p.Gly576=)
c.1827A>G (p.Gly609=)
 gnomAD v4
2g.188997347A>TCA430309932COL3A1c.1728A>T (p.Gly576=)
c.1827A>T (p.Gly609=)
2g.188997348A>CCA349853404COL3A1c.1729A>C (p.Lys577Gln)
c.1828A>C (p.Lys610Gln)
 COSMIC COSMIC
2g.188997348A>GCA349853401COL3A1c.1729A>G (p.Lys577Glu)
c.1828A>G (p.Lys610Glu)
2g.188997348A>TCA349853402COL3A1c.1729A>T (p.Lys577Ter)
c.1828A>T (p.Lys610Ter)
2g.188997349A>CCA349853405COL3A1c.1730A>C (p.Lys577Thr)
c.1829A>C (p.Lys610Thr)
2g.188997349A>GCA349853407COL3A1c.1730A>G (p.Lys577Arg)
c.1829A>G (p.Lys610Arg)
 COSMIC COSMIC
2g.188997349A>TCA349853408COL3A1c.1730A>T (p.Lys577Met)
c.1829A>T (p.Lys610Met)
2g.188997350G>ACA430309933COL3A1c.1731G>A (p.Lys577=)
c.1830G>A (p.Lys610=)
2g.188997350G>CCA349853409COL3A1c.1731G>C (p.Lys577Asn)
c.1830G>C (p.Lys610Asn)
2g.188997350G>TCA349853411COL3A1c.1731G>T (p.Lys577Asn)
c.1830G>T (p.Lys610Asn)
2g.188997350_188997352delinsGAACA1315399994COL3A1c.1731_1733delinsGAA (p.Lys577=)
c.1830_1832delinsGAA (p.Lys610=)
2g.188997351A>CCA349853413COL3A1c.1732A>C (p.Asn578His)
c.1831A>C (p.Asn611His)
2g.188997351A>GCA349853414COL3A1c.1732A>G (p.Asn578Asp)
c.1831A>G (p.Asn611Asp)
2g.188997351A>TCA349853416COL3A1c.1732A>T (p.Asn578Tyr)
c.1831A>T (p.Asn611Tyr)
2g.188997351_188997352delCA004593COL3A1c.1732_1733del (p.Asn578TrpfsTer2)
c.1831_1832del (p.Asn611TrpfsTer2)
 ClinVar dbSNP
2g.188997352A>CCA349853418COL3A1c.1733A>C (p.Asn578Thr)
c.1832A>C (p.Asn611Thr)
2g.188997352A>GCA349853420COL3A1c.1733A>G (p.Asn578Ser)
c.1832A>G (p.Asn611Ser)
2g.188997352A>TCA349853421COL3A1c.1733A>T (p.Asn578Ile)
c.1832A>T (p.Asn611Ile)
2g.188997353T>ACA349853424COL3A1c.1734T>A (p.Asn578Lys)
c.1833T>A (p.Asn611Lys)
2g.188997353T>CCA430309934COL3A1c.1734T>C (p.Asn578=)
c.1833T>C (p.Asn611=)
 dbSNP gnomAD v4
2g.188997353T>GCA349853422COL3A1c.1734T>G (p.Asn578Lys)
c.1833T>G (p.Asn611Lys)
2g.188997353T=CA1315399995COL3A1c.1734T= (p.Asn578=)
c.1833T= (p.Asn611=)
2g.188997354G>ACA349853425COL3A1c.1735G>A (p.Gly579Ser)
c.1834G>A (p.Gly612Ser)
 ClinVar dbSNP
2g.188997354G>CCA349853426COL3A1c.1735G>C (p.Gly579Arg)
c.1834G>C (p.Gly612Arg)
2g.188997354G>TCA349853427COL3A1c.1735G>T (p.Gly579Cys)
c.1834G>T (p.Gly612Cys)
2g.188997355G>ACA349853429COL3A1c.1736G>A (p.Gly579Asp)
c.1835G>A (p.Gly612Asp)
2g.188997355G>CCA074715COL3A1c.1736G>C (p.Gly579Ala)
c.1835G>C (p.Gly612Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997355G=CA1315399996COL3A1c.1736G= (p.Gly579=)
c.1835G= (p.Gly612=)
2g.188997355G>TCA349853431COL3A1c.1736G>T (p.Gly579Val)
c.1835G>T (p.Gly612Val)
 COSMIC COSMIC
2g.188997356T>ACA430309935COL3A1c.1737T>A (p.Gly579=)
c.1836T>A (p.Gly612=)
2g.188997356T>CCA430309937COL3A1c.1737T>C (p.Gly579=)
c.1836T>C (p.Gly612=)
 ClinVar dbSNP gnomAD v4
2g.188997356T>GCA430309936COL3A1c.1737T>G (p.Gly579=)
c.1836T>G (p.Gly612=)
2g.188997356T=CA1315399997COL3A1c.1737T= (p.Gly579=)
c.1836T= (p.Gly612=)
2g.188997357G>ACA349853436COL3A1c.1738G>A (p.Glu580Lys)
c.1837G>A (p.Glu613Lys)
 gnomAD v4
2g.188997357G>CCA349853433COL3A1c.1738G>C (p.Glu580Gln)
c.1837G>C (p.Glu613Gln)
2g.188997357G>TCA349853435COL3A1c.1738G>T (p.Glu580Ter)
c.1837G>T (p.Glu613Ter)
2g.188997358A>CCA349853438COL3A1c.1739A>C (p.Glu580Ala)
c.1838A>C (p.Glu613Ala)
2g.188997358A>GCA349853439COL3A1c.1739A>G (p.Glu580Gly)
c.1838A>G (p.Glu613Gly)
2g.188997358A>TCA349853440COL3A1c.1739A>T (p.Glu580Val)
c.1838A>T (p.Glu613Val)
2g.188997359A>CCA349853441COL3A1c.1740A>C (p.Glu580Asp)
c.1839A>C (p.Glu613Asp)
2g.188997359A>GCA430309938COL3A1c.1740A>G (p.Glu580=)
c.1839A>G (p.Glu613=)
 COSMIC COSMIC
2g.188997359A>TCA349853442COL3A1c.1740A>T (p.Glu580Asp)
c.1839A>T (p.Glu613Asp)
2g.188997360A=CA1315399998COL3A1c.1741A= (p.Thr581=)
c.1840A= (p.Thr614=)
2g.188997360A>CCA349853446COL3A1c.1741A>C (p.Thr581Pro)
c.1840A>C (p.Thr614Pro)
2g.188997360A>GCA349853443COL3A1c.1741A>G (p.Thr581Ala)
c.1840A>G (p.Thr614Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188997360A>TCA349853445COL3A1c.1741A>T (p.Thr581Ser)
c.1840A>T (p.Thr614Ser)
2g.188997361C>ACA349853447COL3A1c.1742C>A (p.Thr581Asn)
c.1841C>A (p.Thr614Asn)
2g.188997361C>GCA349853449COL3A1c.1742C>G (p.Thr581Ser)
c.1841C>G (p.Thr614Ser)
2g.188997361C>TCA349853452COL3A1c.1742C>T (p.Thr581Ile)
c.1841C>T (p.Thr614Ile)
2g.188997362T>ACA430309939COL3A1c.1743T>A (p.Thr581=)
c.1842T>A (p.Thr614=)
2g.188997362T>CCA430309940COL3A1c.1743T>C (p.Thr581=)
c.1842T>C (p.Thr614=)
2g.188997362T>GCA430309941COL3A1c.1743T>G (p.Thr581=)
c.1842T>G (p.Thr614=)
2g.188997363G>ACA349853455COL3A1c.1744G>A (p.Gly582Arg)
c.1843G>A (p.Gly615Arg)
2g.188997363G>CCA349853457COL3A1c.1744G>C (p.Gly582Arg)
c.1843G>C (p.Gly615Arg)
2g.188997363G=CA1315399999COL3A1c.1744G= (p.Gly582=)
c.1843G= (p.Gly615=)
2g.188997363G>TCA349853460COL3A1c.1744G>T (p.Gly582Ter)
c.1843G>T (p.Gly615Ter)
 dbSNP gnomAD v4
2g.188997364G>ACA004607COL3A1c.1745G>A (p.Gly582Glu)
c.1844G>A (p.Gly615Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188997364G>CCA349853464COL3A1c.1745G>C (p.Gly582Ala)
c.1844G>C (p.Gly615Ala)
2g.188997364G=CA1315400000COL3A1c.1745G= (p.Gly582=)
c.1844G= (p.Gly615=)
2g.188997364G>TCA349853466COL3A1c.1745G>T (p.Gly582Val)
c.1844G>T (p.Gly615Val)
 gnomAD v4
2g.188997365A>CCA430309942COL3A1c.1746A>C (p.Gly582=)
c.1845A>C (p.Gly615=)
2g.188997365A>GCA430309943COL3A1c.1746A>G (p.Gly582=)
c.1845A>G (p.Gly615=)
2g.188997365A>TCA430309944COL3A1c.1746A>T (p.Gly582=)
c.1845A>T (p.Gly615=)
2g.188997366C>ACA349853470COL3A1c.1747C>A (p.Pro583Thr)
c.1846C>A (p.Pro616Thr)
2g.188997366C>GCA349853471COL3A1c.1747C>G (p.Pro583Ala)
c.1846C>G (p.Pro616Ala)
2g.188997366C>TCA349853472COL3A1c.1747C>T (p.Pro583Ser)
c.1846C>T (p.Pro616Ser)
2g.188997367C>ACA349853474COL3A1c.1748C>A (p.Pro583His)
c.1847C>A (p.Pro616His)
2g.188997367C>GCA349853477COL3A1c.1748C>G (p.Pro583Arg)
c.1847C>G (p.Pro616Arg)
2g.188997367C>TCA349853475COL3A1c.1748C>T (p.Pro583Leu)
c.1847C>T (p.Pro616Leu)
 gnomAD v4
2g.188997368T>ACA430309945COL3A1c.1749T>A (p.Pro583=)
c.1848T>A (p.Pro616=)
2g.188997368T>CCA430309946COL3A1c.1749T>C (p.Pro583=)
c.1848T>C (p.Pro616=)
2g.188997368T>GCA430309947COL3A1c.1749T>G (p.Pro583=)
c.1848T>G (p.Pro616=)
 gnomAD v4
2g.188997369C>ACA349853479COL3A1c.1750C>A (p.Gln584Lys)
c.1849C>A (p.Gln617Lys)
2g.188997369C>GCA349853482COL3A1c.1750C>G (p.Gln584Glu)
c.1849C>G (p.Gln617Glu)
2g.188997369C>TCA349853481COL3A1c.1750C>T (p.Gln584Ter)
c.1849C>T (p.Gln617Ter)
 COSMIC COSMIC
2g.188997370A=CA1315400001COL3A1c.1751A= (p.Gln584=)
c.1850A= (p.Gln617=)
2g.188997370A>CCA349853485COL3A1c.1751A>C (p.Gln584Pro)
c.1850A>C (p.Gln617Pro)
2g.188997370A>GCA349853488COL3A1c.1751A>G (p.Gln584Arg)
c.1850A>G (p.Gln617Arg)
 ClinVar dbSNP
2g.188997370A>TCA349853491COL3A1c.1751A>T (p.Gln584Leu)
c.1850A>T (p.Gln617Leu)
 dbSNP
2g.188997370_188997375delinsAGGGACCA1315400002COL3A1c.1751_1756delinsAGGGAC (p.Gln584=)
c.1850_1855delinsAGGGAC (p.Gln617=)
2g.188997371G>ACA004615COL3A1c.1752G>A (p.Gln584=)
c.1851G>A (p.Gln617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997371G>CCA349853497COL3A1c.1752G>C (p.Gln584His)
c.1851G>C (p.Gln617His)
2g.188997371G=CA1315400003COL3A1c.1752G= (p.Gln584=)
c.1851G= (p.Gln617=)
2g.188997371G>TCA349853499COL3A1c.1752G>T (p.Gln584His)
c.1851G>T (p.Gln617His)
2g.188997371_188997375delinsAGCA915942282COL3A1c.1752_1756delinsAG (p.Gly585_Pro586delinsAla)
c.1851_1855delinsAG (p.Gly618_Pro619delinsAla)
 ClinVar dbSNP
2g.188997372G>ACA349853502COL3A1c.1753G>A (p.Gly585Arg)
c.1852G>A (p.Gly618Arg)
 COSMIC
2g.188997372G>CCA349853504COL3A1c.1753G>C (p.Gly585Arg)
c.1852G>C (p.Gly618Arg)
 dbSNP
2g.188997372G=CA1315400004COL3A1c.1753G= (p.Gly585=)
c.1852G= (p.Gly618=)
2g.188997372G>TCA349853508COL3A1c.1753G>T (p.Gly585Ter)
c.1852G>T (p.Gly618Ter)
2g.188997373G>ACA349853510COL3A1c.1754G>A (p.Gly585Glu)
c.1853G>A (p.Gly618Glu)
 ClinVar COSMIC COSMIC
2g.188997373G>CCA349853512COL3A1c.1754G>C (p.Gly585Ala)
c.1853G>C (p.Gly618Ala)
2g.188997373G>TCA349853514COL3A1c.1754G>T (p.Gly585Val)
c.1853G>T (p.Gly618Val)
2g.188997374A=CA1315400005COL3A1c.1755A= (p.Gly585=)
c.1854A= (p.Gly618=)
2g.188997374A>CCA430309949COL3A1c.1755A>C (p.Gly585=)
c.1854A>C (p.Gly618=)
2g.188997374A>GCA430309948COL3A1c.1755A>G (p.Gly585=)
c.1854A>G (p.Gly618=)
 gnomAD v4
2g.188997374A>TCA074725COL3A1c.1755A>T (p.Gly585=)
c.1854A>T (p.Gly618=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997375C>ACA074729COL3A1c.1756C>A (p.Pro586Thr)
c.1855C>A (p.Pro619Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188997375C=CA1315400006COL3A1c.1756C= (p.Pro586=)
c.1855C= (p.Pro619=)
2g.188997375C>GCA349853521COL3A1c.1756C>G (p.Pro586Ala)
c.1855C>G (p.Pro619Ala)
2g.188997375C>TCA349853519COL3A1c.1756C>T (p.Pro586Ser)
c.1855C>T (p.Pro619Ser)
 ClinVar dbSNP
2g.188997379dupCA915942283COL3A1c.1760dup (p.Gly588ArgfsTer8)
c.1859dup (p.Gly621ArgfsTer8)
 ClinVar dbSNP
2g.188997379delCA2573133087COL3A1c.1760del (p.Pro587GlnfsTer?)
c.1859del (p.Pro620GlnfsTer?)
 ClinVar dbSNP
2g.188997376C>ACA349853524COL3A1c.1757C>A (p.Pro586His)
c.1856C>A (p.Pro619His)
2g.188997376C=CA1315400007COL3A1c.1757C= (p.Pro586=)
c.1856C= (p.Pro619=)
2g.188997376C>GCA349853527COL3A1c.1757C>G (p.Pro586Arg)
c.1856C>G (p.Pro619Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188997376C>TCA074732COL3A1c.1757C>T (p.Pro586Leu)
c.1856C>T (p.Pro619Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997377C>ACA430309950COL3A1c.1758C>A (p.Pro586=)
c.1857C>A (p.Pro619=)
 gnomAD v4
2g.188997377C=CA1315400008COL3A1c.1758C= (p.Pro586=)
c.1857C= (p.Pro619=)
2g.188997377C>GCA074737COL3A1c.1758C>G (p.Pro586=)
c.1857C>G (p.Pro619=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188997377C>TCA430309951COL3A1c.1758C>T (p.Pro586=)
c.1857C>T (p.Pro619=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188997378C>ACA349853533COL3A1c.1759C>A (p.Pro587Thr)
c.1858C>A (p.Pro620Thr)
2g.188997378C>GCA349853534COL3A1c.1759C>G (p.Pro587Ala)
c.1858C>G (p.Pro620Ala)
2g.188997378C>TCA349853536COL3A1c.1759C>T (p.Pro587Ser)
c.1858C>T (p.Pro620Ser)
2g.188997379C>ACA349853538COL3A1c.1760C>A (p.Pro587Gln)
c.1859C>A (p.Pro620Gln)
2g.188997379C=CA1315400009COL3A1c.1760C= (p.Pro587=)
c.1859C= (p.Pro620=)
2g.188997379C>GCA349853540COL3A1c.1760C>G (p.Pro587Arg)
c.1859C>G (p.Pro620Arg)
2g.188997379C>TCA349853542COL3A1c.1760C>T (p.Pro587Leu)
c.1859C>T (p.Pro620Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.188997380A=CA1315400010COL3A1c.1761A= (p.Pro587=)
c.1860A= (p.Pro620=)
2g.188997380A>CCA430309952COL3A1c.1761A>C (p.Pro587=)
c.1860A>C (p.Pro620=)
 dbSNP
2g.188997380A>GCA430309953COL3A1c.1761A>G (p.Pro587=)
c.1860A>G (p.Pro620=)
 ClinVar dbSNP gnomAD v4
2g.188997380A>TCA074740COL3A1c.1761A>T (p.Pro587=)
c.1860A>T (p.Pro620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997382_188997394delCA2580065276COL3A1c.1763_1770+5del
c.1862_1869+5del
 ClinVar
2g.188997381G>ACA349853547COL3A1c.1762G>A (p.Gly588Arg)
c.1861G>A (p.Gly621Arg)
2g.188997381G>CCA004622COL3A1c.1762G>C (p.Gly588Arg)
c.1861G>C (p.Gly621Arg)
 ClinVar dbSNP
2g.188997381G=CA1315400011COL3A1c.1762G= (p.Gly588=)
c.1861G= (p.Gly621=)
2g.188997381G>TCA004630COL3A1c.1762G>T (p.Gly588Trp)
c.1861G>T (p.Gly621Trp)
 ClinVar dbSNP
2g.188997382G>ACA004636COL3A1c.1763G>A (p.Gly588Glu)
c.1862G>A (p.Gly621Glu)
 ClinVar dbSNP
2g.188997382G>CCA349853552COL3A1c.1763G>C (p.Gly588Ala)
c.1862G>C (p.Gly621Ala)
2g.188997382G=CA1315400012COL3A1c.1763G= (p.Gly588=)
c.1862G= (p.Gly621=)
2g.188997382G>TCA004643COL3A1c.1763G>T (p.Gly588Val)
c.1862G>T (p.Gly621Val)
 ClinVar dbSNP
2g.188997383G>ACA074745COL3A1c.1764G>A (p.Gly588=)
c.1863G>A (p.Gly621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997383G>CCA430309954COL3A1c.1764G>C (p.Gly588=)
c.1863G>C (p.Gly621=)
2g.188997383G=CA1315400013COL3A1c.1764G= (p.Gly588=)
c.1863G= (p.Gly621=)
2g.188997383G>TCA430309955COL3A1c.1764G>T (p.Gly588=)
c.1863G>T (p.Gly621=)
2g.188997384C>ACA349853557COL3A1c.1765C>A (p.Pro589Thr)
c.1864C>A (p.Pro622Thr)
2g.188997384C=CA1315400014COL3A1c.1765C= (p.Pro589=)
c.1864C= (p.Pro622=)
2g.188997384C>GCA349853560COL3A1c.1765C>G (p.Pro589Ala)
c.1864C>G (p.Pro622Ala)
2g.188997384C>TCA074749COL3A1c.1765C>T (p.Pro589Ser)
c.1864C>T (p.Pro622Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188997385C>ACA349853565COL3A1c.1766C>A (p.Pro589His)
c.1865C>A (p.Pro622His)
2g.188997385C>GCA349853567COL3A1c.1766C>G (p.Pro589Arg)
c.1865C>G (p.Pro622Arg)
 gnomAD v4
2g.188997385C>TCA349853568COL3A1c.1766C>T (p.Pro589Leu)
c.1865C>T (p.Pro622Leu)
 ClinVar COSMIC COSMIC
2g.188997386T>ACA430309956COL3A1c.1767T>A (p.Pro589=)
c.1866T>A (p.Pro622=)
2g.188997386T>CCA074753COL3A1c.1767T>C (p.Pro589=)
c.1866T>C (p.Pro622=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188997386T>GCA430309957COL3A1c.1767T>G (p.Pro589=)
c.1866T>G (p.Pro622=)
2g.188997386T=CA1315400015COL3A1c.1767T= (p.Pro589=)
c.1866T= (p.Pro622=)
2g.188997387A>CCA349853578COL3A1c.1768A>C (p.Thr590Pro)
c.1867A>C (p.Thr623Pro)
2g.188997387A>GCA349853573COL3A1c.1768A>G (p.Thr590Ala)
c.1867A>G (p.Thr623Ala)
 ClinVar gnomAD v4
2g.188997387A>TCA349853576COL3A1c.1768A>T (p.Thr590Ser)
c.1867A>T (p.Thr623Ser)
2g.188997388C>ACA349853581COL3A1c.1769C>A (p.Thr590Asn)
c.1868C>A (p.Thr623Asn)
2g.188997388C>GCA349853582COL3A1c.1769C>G (p.Thr590Ser)
c.1868C>G (p.Thr623Ser)
2g.188997388C>TCA349853585COL3A1c.1769C>T (p.Thr590Ile)
c.1868C>T (p.Thr623Ile)
 gnomAD v4
2g.188997389T>ACA430309959COL3A1c.1770T>A (p.Thr590=)
c.1869T>A (p.Thr623=)
2g.188997389T>CCA430309960COL3A1c.1770T>C (p.Thr590=)
c.1869T>C (p.Thr623=)
2g.188997389T>GCA430309958COL3A1c.1770T>G (p.Thr590=)
c.1869T>G (p.Thr623=)
2g.188997390G>ACA349853589COL3A1c.1770+1G>A (n.1770+1G>A)
c.1869+1G>A (n.1869+1G>A)
 COSMIC COSMIC
2g.188997390G>CCA004649COL3A1c.1770+1G>C (n.1770+1G>C)
c.1869+1G>C (n.1869+1G>C)
 ClinVar dbSNP
2g.188997390G=CA1315400016COL3A1c.1770+1G= (n.1770+1G=)
c.1869+1G= (n.1869+1G=)
2g.188997390G>TCA349853591COL3A1c.1770+1G>T (n.1770+1G>T)
c.1869+1G>T (n.1869+1G>T)
2g.188997390_188997391insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAACA2753572343COL3A1c.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA (n.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA)
c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA (n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAA)
2g.188997390_188997391insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCCA2753572344COL3A1c.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACC (n.1770+1_1770+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACC)
c.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACC (n.1869+1_1869+2insGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACC)
2g.188997391T>ACA349853593COL3A1c.1770+2T>A (n.1770+2T>A)
c.1869+2T>A (n.1869+2T>A)
2g.188997391T>CCA349853596COL3A1c.1770+2T>C (n.1770+2T>C)
c.1869+2T>C (n.1869+2T>C)
2g.188997391T>GCA349853598COL3A1c.1770+2T>G (n.1770+2T>G)
c.1869+2T>G (n.1869+2T>G)
2g.188997392A=CA1315400017COL3A1c.1770+3A= (n.1770+3A=)
c.1869+3A= (n.1869+3A=)
2g.188997392A>CCA915942284COL3A1c.1770+3A>C (n.1770+3A>C)
c.1869+3A>C (n.1869+3A>C)
 ClinVar dbSNP
2g.188997392A>GCA2662308462COL3A1c.1770+3A>G (n.1770+3A>G)
c.1869+3A>G (n.1869+3A>G)
 gnomAD v4
2g.188997393A=CA1315400018COL3A1c.1770+4A= (n.1770+4A=)
c.1869+4A= (n.1869+4A=)
2g.188997393A>GCA762198527COL3A1c.1770+4A>G (n.1770+4A>G)
c.1869+4A>G (n.1869+4A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188997394G>ACA004656COL3A1c.1770+5G>A (n.1770+5G>A)
c.1869+5G>A (n.1869+5G>A)
 ClinVar dbSNP
2g.188997394G=CA1315400019COL3A1c.1770+5G= (n.1770+5G=)
c.1869+5G= (n.1869+5G=)
2g.188997394G>TCA004663COL3A1c.1770+5G>T (n.1770+5G>T)
c.1869+5G>T (n.1869+5G>T)
 ClinVar dbSNP
2g.188997395T>CCA2662308463COL3A1c.1770+6T>C (n.1770+6T>C)
c.1869+6T>C (n.1869+6T>C)
 gnomAD v4
2g.188997395T>GCA004670COL3A1c.1770+6T>G (n.1770+6T>G)
c.1869+6T>G (n.1869+6T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997395T=CA1315400020COL3A1c.1770+6T= (n.1770+6T=)
c.1869+6T= (n.1869+6T=)
2g.188997397C>ACA2662308464COL3A1c.1770+8C>A (n.1770+8C>A)
c.1869+8C>A (n.1869+8C>A)
 gnomAD v4
2g.188997398A>CCA2580065278COL3A1c.1770+9A>C (n.1770+9A>C)
c.1869+9A>C (n.1869+9A>C)
 ClinVar gnomAD v4
2g.188997399C=CA1315400022COL3A1c.1770+10C= (n.1770+10C=)
c.1869+10C= (n.1869+10C=)
2g.188997399C>TCA1315400021COL3A1c.1770+10C>T (n.1770+10C>T)
c.1869+10C>T (n.1869+10C>T)
 dbSNP gnomAD v4
2g.188997400T>CCA2662308465COL3A1c.1770+11T>C (n.1770+11T>C)
c.1869+11T>C (n.1869+11T>C)
 gnomAD v4
2g.188997400T>GCA2701315689COL3A1c.1770+11T>G (n.1770+11T>G)
c.1869+11T>G (n.1869+11T>G)
 dbSNP
2g.188997401C>ACA2662308466COL3A1c.1770+12C>A (n.1770+12C>A)
c.1869+12C>A (n.1869+12C>A)
 gnomAD v4
2g.188997401C=CA1315400023COL3A1c.1770+12C= (n.1770+12C=)
c.1869+12C= (n.1869+12C=)
2g.188997401C>TCA62599070COL3A1c.1770+12C>T (n.1770+12C>T)
c.1869+12C>T (n.1869+12C>T)
 dbSNP gnomAD v4
2g.188997401_188997403delinsCATCA1315400024COL3A1c.1770+12_1770+14delinsCAT (n.1770+12_1770+14delinsCAT)
c.1869+12_1869+14delinsCAT (n.1869+12_1869+14delinsCAT)
2g.188997402A=CA1315400025COL3A1c.1770+13A= (n.1770+13A=)
c.1869+13A= (n.1869+13A=)
2g.188997402A>GCA538441370COL3A1c.1770+13A>G (n.1770+13A>G)
c.1869+13A>G (n.1869+13A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.188997402A>TCA074756COL3A1c.1770+13A>T (n.1770+13A>T)
c.1869+13A>T (n.1869+13A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188997405_188997406delCA538441369COL3A1c.1770+16_1770+17del (n.1770+16_1770+17del)
c.1869+16_1869+17del (n.1869+16_1869+17del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188997403T>CCA538441371COL3A1c.1770+14T>C (n.1770+14T>C)
c.1869+14T>C (n.1869+14T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188997403T=CA1315400026COL3A1c.1770+14T= (n.1770+14T=)
c.1869+14T= (n.1869+14T=)
2g.188997404A>GCA2662308467COL3A1c.1770+15A>G (n.1770+15A>G)
c.1869+15A>G (n.1869+15A>G)
 gnomAD v4
2g.188997405T>CCA074759COL3A1c.1770+16T>C (n.1770+16T>C)
c.1869+16T>C (n.1869+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188997405T=CA1315400027COL3A1c.1770+16T= (n.1770+16T=)
c.1869+16T= (n.1869+16T=)
2g.188997406A=CA1315400028COL3A1c.1770+17A= (n.1770+17A=)
c.1869+17A= (n.1869+17A=)
2g.188997406A>GCA62599071COL3A1c.1770+17A>G (n.1770+17A>G)
c.1869+17A>G (n.1869+17A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188997409delCA2662308468COL3A1c.1770+20del (n.1770+20del)
c.1869+20del (n.1869+20del)
 gnomAD v4

Number of alleles fetched