Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.134835009_134835034dupCA2499219767COL5A1c.5175_5200dup (p.Leu1734ArgfsTer4)
c.433_458dup
n.71-14825_71-14800dup
n.5859_5884dup
n.5727_5752dup
 ClinVar dbSNP
9g.134835030G>ACA467666843COL5A1c.5196G>A (p.Arg1732=)
c.454G>A
n.71-14821C>T
n.5880G>A
n.5748G>A
9g.134835030G>CCA467666844COL5A1c.5196G>C (p.Arg1732=)
c.454G>C
n.71-14821C>G
n.5880G>C
n.5748G>C
9g.134835030G>TCA467666846COL5A1c.5196G>T (p.Arg1732=)
c.454G>T
n.71-14821C>A
n.5880G>T
n.5748G>T
9g.134835030_134835031insGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAGCA2786218715COL5A1c.5196_5197insGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAG (p.Leu1733ValfsTer15)
c.454_455insGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAG
n.71-14821_71-14820insTGGCCTGGGGCCTGGGCCTTCCCAGGGGCGAGGGAACC
n.5880_5881insGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAG
n.5748_5749insGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAG
9g.134835031C>ACA375460408COL5A1c.5197C>A (p.Leu1733Met)
c.455C>A
n.71-14822G>T
n.5881C>A
n.5749C>A
9g.134835031C=CA1883392973COL5A1c.5197C= (p.Leu1733=)
c.455C=
n.71-14822G=
n.5881C=
n.5749C=
9g.134835031C>GCA375460409COL5A1c.5197C>G (p.Leu1733Val)
c.455C>G
n.71-14822G>C
n.5881C>G
n.5749C>G
9g.134835031C>TCA467666850COL5A1c.5197C>T (p.Leu1733=)
c.455C>T
n.71-14822G>A
n.5881C>T
n.5749C>T
 ClinVar dbSNP gnomAD v4
9g.134835032T>ACA375460411COL5A1c.5198T>A (p.Leu1733Gln)
c.456T>A
n.71-14823A>T
n.5882T>A
n.5750T>A
9g.134835032T>CCA375460412COL5A1c.5198T>C (p.Leu1733Pro)
c.456T>C
n.71-14823A>G
n.5882T>C
n.5750T>C
9g.134835032T>GCA375460410COL5A1c.5198T>G (p.Leu1733Arg)
c.456T>G
n.71-14823A>C
n.5882T>G
n.5750T>G
9g.134835033G>ACA467666855COL5A1c.5199G>A (p.Leu1733=)
c.457G>A
n.71-14824C>T
n.5883G>A
n.5751G>A
9g.134835033G>CCA467666859COL5A1c.5199G>C (p.Leu1733=)
c.457G>C
n.71-14824C>G
n.5883G>C
n.5751G>C
9g.134835033G>TCA467666857COL5A1c.5199G>T (p.Leu1733=)
c.457G>T
n.71-14824C>A
n.5883G>T
n.5751G>T
9g.134835034C>ACA375460413COL5A1c.5200C>A (p.Leu1734Met)
c.458C>A
n.71-14825G>T
n.5884C>A
n.5752C>A
9g.134835034C=CA1883392974COL5A1c.5200C= (p.Leu1734=)
c.458C=
n.71-14825G=
n.5884C=
n.5752C=
9g.134835034C>GCA5320667COL5A1c.5200C>G (p.Leu1734Val)
c.458C>G
n.71-14825G>C
n.5884C>G
n.5752C>G
 dbSNP ExAC gnomAD v2
9g.134835034C>TCA467666863COL5A1c.5200C>T (p.Leu1734=)
c.458C>T
n.71-14825G>A
n.5884C>T
n.5752C>T
 dbSNP
9g.134835035T>ACA375460414COL5A1c.5201T>A (p.Leu1734Gln)
c.459T>A
n.71-14826A>T
n.5885T>A
n.5753T>A
9g.134835035T>CCA375460415COL5A1c.5201T>C (p.Leu1734Pro)
c.459T>C
n.71-14826A>G
n.5885T>C
n.5753T>C
9g.134835035T>GCA375460416COL5A1c.5201T>G (p.Leu1734Arg)
c.459T>G
n.71-14826A>C
n.5885T>G
n.5753T>G
9g.134835036G>ACA467666868COL5A1c.5202G>A (p.Leu1734=)
c.460G>A
n.71-14827C>T
n.5886G>A
n.5754G>A
9g.134835036G>CCA5320668COL5A1c.5202G>C (p.Leu1734=)
c.460G>C
n.71-14827C>G
n.5886G>C
n.5754G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835036G=CA1883392975COL5A1c.5202G= (p.Leu1734=)
c.460G=
n.71-14827C=
n.5886G=
n.5754G=
9g.134835036G>TCA467666870COL5A1c.5202G>T (p.Leu1734=)
c.460G>T
n.71-14827C>A
n.5886G>T
n.5754G>T
9g.134835037A>CCA375460417COL5A1c.5203A>C (p.Ser1735Arg)
c.461A>C
n.71-14828T>G
n.5887A>C
n.5755A>C
9g.134835037A>GCA375460418COL5A1c.5203A>G (p.Ser1735Gly)
c.461A>G
n.71-14828T>C
n.5887A>G
n.5755A>G
9g.134835037A>TCA375460419COL5A1c.5203A>T (p.Ser1735Cys)
c.461A>T
n.71-14828T>A
n.5887A>T
n.5755A>T
9g.134835038G>ACA375460420COL5A1c.5204G>A (p.Ser1735Asn)
c.462G>A
n.71-14829C>T
n.5888G>A
n.5756G>A
 ClinVar dbSNP
9g.134835038G>CCA375460421COL5A1c.5204G>C (p.Ser1735Thr)
c.462G>C
n.71-14829C>G
n.5888G>C
n.5756G>C
9g.134835038G=CA1883392976COL5A1c.5204G= (p.Ser1735=)
c.462G=
n.71-14829C=
n.5888G=
n.5756G=
9g.134835038G>TCA375460422COL5A1c.5204G>T (p.Ser1735Ile)
c.462G>T
n.71-14829C>A
n.5888G>T
n.5756G>T
9g.134835039C>ACA375460424COL5A1c.5205C>A (p.Ser1735Arg)
c.463C>A
n.71-14830G>T
n.5889C>A
n.5757C>A
9g.134835039C=CA1883392977COL5A1c.5205C= (p.Ser1735=)
c.463C=
n.71-14830G=
n.5889C=
n.5757C=
9g.134835039C>GCA375460423COL5A1c.5205C>G (p.Ser1735Arg)
c.463C>G
n.71-14830G>C
n.5889C>G
n.5757C>G
9g.134835039C>TCA5320669COL5A1c.5205C>T (p.Ser1735=)
c.463C>T
n.71-14830G>A
n.5889C>T
n.5757C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835040G>ACA5320670COL5A1c.5206G>A (p.Ala1736Thr)
c.464G>A
n.71-14831C>T
n.5890G>A
n.5758G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835040G>CCA375460425COL5A1c.5206G>C (p.Ala1736Pro)
c.464G>C
n.71-14831C>G
n.5890G>C
n.5758G>C
 gnomAD v4
9g.134835040G=CA1883392978COL5A1c.5206G= (p.Ala1736=)
c.464G=
n.71-14831C=
n.5890G=
n.5758G=
9g.134835040G>TCA375460426COL5A1c.5206G>T (p.Ala1736Ser)
c.464G>T
n.71-14831C>A
n.5890G>T
n.5758G>T
 COSMIC
9g.134835041C>ACA375460427COL5A1c.5207C>A (p.Ala1736Asp)
c.465C>A
n.71-14832G>T
n.5891C>A
n.5759C>A
9g.134835041C>GCA375460428COL5A1c.5207C>G (p.Ala1736Gly)
c.465C>G
n.71-14832G>C
n.5891C>G
n.5759C>G
9g.134835041C>TCA375460429COL5A1c.5207C>T (p.Ala1736Val)
c.465C>T
n.71-14832G>A
n.5891C>T
n.5759C>T
9g.134835042C>ACA467666890COL5A1c.5208C>A (p.Ala1736=)
c.466C>A
n.71-14833G>T
n.5892C>A
n.5760C>A
9g.134835042C>GCA467666893COL5A1c.5208C>G (p.Ala1736=)
c.466C>G
n.71-14833G>C
n.5892C>G
n.5760C>G
9g.134835042C>TCA467666888COL5A1c.5208C>T (p.Ala1736=)
c.466C>T
n.71-14833G>A
n.5892C>T
n.5760C>T
 gnomAD v4
9g.134835043T>ACA375460430COL5A1c.5209T>A (p.Ser1737Thr)
c.467T>A
n.71-14834A>T
n.5893T>A
n.5761T>A
9g.134835043T>CCA375460431COL5A1c.5209T>C (p.Ser1737Pro)
c.467T>C
n.71-14834A>G
n.5893T>C
n.5761T>C
9g.134835043T>GCA375460432COL5A1c.5209T>G (p.Ser1737Ala)
c.467T>G
n.71-14834A>C
n.5893T>G
n.5761T>G
9g.134835044C>ACA375460433COL5A1c.5210C>A (p.Ser1737Tyr)
c.468C>A
n.71-14835G>T
n.5894C>A
n.5762C>A
9g.134835044C>GCA375460434COL5A1c.5210C>G (p.Ser1737Cys)
c.468C>G
n.71-14835G>C
n.5894C>G
n.5762C>G
9g.134835044C>TCA375460435COL5A1c.5210C>T (p.Ser1737Phe)
c.468C>T
n.71-14835G>A
n.5894C>T
n.5762C>T
9g.134835045T>ACA467666903COL5A1c.5211T>A (p.Ser1737=)
c.469T>A
n.71-14836A>T
n.5895T>A
n.5763T>A
9g.134835045T>CCA467666905COL5A1c.5211T>C (p.Ser1737=)
c.469T>C
n.71-14836A>G
n.5895T>C
n.5763T>C
9g.134835045T>GCA467666907COL5A1c.5211T>G (p.Ser1737=)
c.469T>G
n.71-14836A>C
n.5895T>G
n.5763T>G
9g.134835046G>ACA375460437COL5A1c.5212G>A (p.Ala1738Thr)
c.470G>A
n.71-14837C>T
n.5896G>A
n.5764G>A
 gnomAD v4
9g.134835046G>CCA375460438COL5A1c.5212G>C (p.Ala1738Pro)
c.470G>C
n.71-14837C>G
n.5896G>C
n.5764G>C
9g.134835046G>TCA375460436COL5A1c.5212G>T (p.Ala1738Ser)
c.470G>T
n.71-14837C>A
n.5896G>T
n.5764G>T
9g.134835047C>ACA375460441COL5A1c.5213C>A (p.Ala1738Asp)
c.471C>A
n.71-14838G>T
n.5897C>A
n.5765C>A
9g.134835047C>GCA375460439COL5A1c.5213C>G (p.Ala1738Gly)
c.471C>G
n.71-14838G>C
n.5897C>G
n.5765C>G
9g.134835047C>TCA375460440COL5A1c.5213C>T (p.Ala1738Val)
c.471C>T
n.71-14838G>A
n.5897C>T
n.5765C>T
 gnomAD v4
9g.134835049delCA2840001351COL5A1c.5215del (p.His1739ThrfsTer?)
c.473del
n.71-14838del
n.5899del
n.5767del
9g.134835048C>ACA467666916COL5A1c.5214C>A (p.Ala1738=)
c.472C>A
n.71-14839G>T
n.5898C>A
n.5766C>A
9g.134835048C=CA1883392979COL5A1c.5214C= (p.Ala1738=)
c.472C=
n.71-14839G=
n.5898C=
n.5766C=
9g.134835048C>GCA467666918COL5A1c.5214C>G (p.Ala1738=)
c.472C>G
n.71-14839G>C
n.5898C>G
n.5766C>G
 gnomAD v4
9g.134835048C>TCA467666920COL5A1c.5214C>T (p.Ala1738=)
c.472C>T
n.71-14839G>A
n.5898C>T
n.5766C>T
 dbSNP
9g.134835049C>ACA375460442COL5A1c.5215C>A (p.His1739Asn)
c.473C>A
n.71-14840G>T
n.5899C>A
n.5767C>A
 gnomAD v4
9g.134835049C>GCA375460443COL5A1c.5215C>G (p.His1739Asp)
c.473C>G
n.71-14840G>C
n.5899C>G
n.5767C>G
9g.134835049C>TCA375460444COL5A1c.5215C>T (p.His1739Tyr)
c.473C>T
n.71-14840G>A
n.5899C>T
n.5767C>T
9g.134835050A=CA1883392980COL5A1c.5216A= (p.His1739=)
c.474A=
n.71-14841T=
n.5900A=
n.5768A=
9g.134835050A>CCA375460445COL5A1c.5216A>C (p.His1739Pro)
c.474A>C
n.71-14841T>G
n.5900A>C
n.5768A>C
 dbSNP
9g.134835050A>GCA375460446COL5A1c.5216A>G (p.His1739Arg)
c.474A>G
n.71-14841T>C
n.5900A>G
n.5768A>G
9g.134835050A>TCA375460447COL5A1c.5216A>T (p.His1739Leu)
c.474A>T
n.71-14841T>A
n.5900A>T
n.5768A>T
9g.134835050_134835051insGCCATCAGACACAGTGAAAGCGCTCCTGCTTCA2692461726COL5A1c.5216_5217insGCCATCAGACACAGTGAAAGCGCTCCTGCTT (p.His1739GlnfsTer?)
c.474_475insGCCATCAGACACAGTGAAAGCGCTCCTGCTT
n.71-14842_71-14841insAAGCAGGAGCGCTTTCACTGTGTCTGATGGC
n.5900_5901insGCCATCAGACACAGTGAAAGCGCTCCTGCTT
n.5768_5769insGCCATCAGACACAGTGAAAGCGCTCCTGCTT
 gnomAD v4
9g.134835051C>ACA353674COL5A1c.5217C>A (p.His1739Gln)
c.475C>A
n.71-14842G>T
n.5901C>A
n.5769C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835051C=CA1883392981COL5A1c.5217C= (p.His1739=)
c.475C=
n.71-14842G=
n.5901C=
n.5769C=
9g.134835051C>GCA375460448COL5A1c.5217C>G (p.His1739Gln)
c.475C>G
n.71-14842G>C
n.5901C>G
n.5769C>G
9g.134835051C>TCA467666929COL5A1c.5217C>T (p.His1739=)
c.475C>T
n.71-14842G>A
n.5901C>T
n.5769C>T
 ClinVar dbSNP COSMIC
9g.134835052C>ACA375460449COL5A1c.5218C>A (p.Gln1740Lys)
c.476C>A
n.71-14843G>T
n.5902C>A
n.5770C>A
9g.134835052C>GCA375460450COL5A1c.5218C>G (p.Gln1740Glu)
c.476C>G
n.71-14843G>C
n.5902C>G
n.5770C>G
9g.134835052C>TCA375460451COL5A1c.5218C>T (p.Gln1740Ter)
c.476C>T
n.71-14843G>A
n.5902C>T
n.5770C>T
 ClinVar dbSNP
9g.134835053A>CCA375460454COL5A1c.5219A>C (p.Gln1740Pro)
c.477A>C
n.71-14844T>G
n.5903A>C
n.5771A>C
9g.134835053A>GCA375460452COL5A1c.5219A>G (p.Gln1740Arg)
c.477A>G
n.71-14844T>C
n.5903A>G
n.5771A>G
9g.134835053A>TCA375460453COL5A1c.5219A>T (p.Gln1740Leu)
c.477A>T
n.71-14844T>A
n.5903A>T
n.5771A>T
9g.134835054G>ACA467666935COL5A1c.5220G>A (p.Gln1740=)
c.478G>A
n.71-14845C>T
n.5904G>A
n.5772G>A
9g.134835054G>CCA375460455COL5A1c.5220G>C (p.Gln1740His)
c.478G>C
n.71-14845C>G
n.5904G>C
n.5772G>C
9g.134835054G>TCA375460456COL5A1c.5220G>T (p.Gln1740His)
c.478G>T
n.71-14845C>A
n.5904G>T
n.5772G>T
9g.134835055A>CCA375460457COL5A1c.5221A>C (p.Asn1741His)
c.479A>C
n.71-14846T>G
n.5905A>C
n.5773A>C
9g.134835055A>GCA375460458COL5A1c.5221A>G (p.Asn1741Asp)
c.479A>G
n.71-14846T>C
n.5905A>G
n.5773A>G
9g.134835055A>TCA375460459COL5A1c.5221A>T (p.Asn1741Tyr)
c.479A>T
n.71-14846T>A
n.5905A>T
n.5773A>T
9g.134835056A=CA1883392982COL5A1c.5222A= (p.Asn1741=)
c.480A=
n.71-14847T=
n.5906A=
n.5774A=
9g.134835056A>CCA375460460COL5A1c.5222A>C (p.Asn1741Thr)
c.480A>C
n.71-14847T>G
n.5906A>C
n.5774A>C
9g.134835056A>GCA375460461COL5A1c.5222A>G (p.Asn1741Ser)
c.480A>G
n.71-14847T>C
n.5906A>G
n.5774A>G
9g.134835056A>TCA375460462COL5A1c.5222A>T (p.Asn1741Ile)
c.480A>T
n.71-14847T>A
n.5906A>T
n.5774A>T
 dbSNP
9g.134835057C>ACA375460463COL5A1c.5223C>A (p.Asn1741Lys)
c.481C>A
n.71-14848G>T
n.5907C>A
n.5775C>A
9g.134835057C=CA1883392983COL5A1c.5223C= (p.Asn1741=)
c.481C=
n.71-14848G=
n.5907C=
n.5775C=
9g.134835057C>GCA375460464COL5A1c.5223C>G (p.Asn1741Lys)
c.481C>G
n.71-14848G>C
n.5907C>G
n.5775C>G
9g.134835057C>TCA5320671COL5A1c.5223C>T (p.Asn1741=)
c.481C>T
n.71-14848G>A
n.5907C>T
n.5775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835058G>ACA201113787COL5A1c.5224G>A (p.Val1742Ile)
c.482G>A
n.71-14849C>T
n.5908G>A
n.5776G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835058G>CCA375460467COL5A1c.5224G>C (p.Val1742Leu)
c.482G>C
n.71-14849C>G
n.5908G>C
n.5776G>C
9g.134835058G=CA1883392984COL5A1c.5224G= (p.Val1742=)
c.482G=
n.71-14849C=
n.5908G=
n.5776G=
9g.134835058G>TCA375460465COL5A1c.5224G>T (p.Val1742Phe)
c.482G>T
n.71-14849C>A
n.5908G>T
n.5776G>T
 gnomAD v4
9g.134835059T>ACA375460470COL5A1c.5225T>A (p.Val1742Asp)
c.483T>A
n.71-14850A>T
n.5909T>A
n.5777T>A
9g.134835059T>CCA375460471COL5A1c.5225T>C (p.Val1742Ala)
c.483T>C
n.71-14850A>G
n.5909T>C
n.5777T>C
9g.134835059T>GCA375460472COL5A1c.5225T>G (p.Val1742Gly)
c.483T>G
n.71-14850A>C
n.5909T>G
n.5777T>G
9g.134835059_134835068delinsTCACCTACCACA1883392985COL5A1c.5225_5234delinsTCACCTACCA (p.Val1742=)
c.483_492delinsTCACCTACCA
n.71-14859_71-14850delinsTGGTAGGTGA
9g.134835060C>ACA467666970COL5A1c.5226C>A (p.Val1742=)
c.484C>A
n.71-14851G>T
n.5910C>A
n.5778C>A
9g.134835060C=CA1883392986COL5A1c.5226C= (p.Val1742=)
c.484C=
n.71-14851G=
n.5910C=
n.5778C=
9g.134835060C>GCA467666966COL5A1c.5226C>G (p.Val1742=)
c.484C>G
n.71-14851G>C
n.5910C>G
n.5778C>G
 dbSNP gnomAD v3 gnomAD v4
9g.134835060C>TCA467666968COL5A1c.5226C>T (p.Val1742=)
c.484C>T
n.71-14851G>A
n.5910C>T
n.5778C>T
 ClinVar dbSNP
9g.134835061_134835069delCA16618790COL5A1c.5227_5235del (p.Thr1743_His1745del)
c.485_493del
n.71-14859_71-14851del
 ClinVar dbSNP
9g.134835061A=CA1883392987COL5A1c.5227A= (p.Thr1743=)
c.485A=
n.71-14852T=
9g.134835061A>CCA5320672COL5A1c.5227A>C (p.Thr1743Pro)
c.485A>C
n.71-14852T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835061A>GCA375460475COL5A1c.5227A>G (p.Thr1743Ala)
c.485A>G
n.71-14852T>C
9g.134835061A>TCA375460477COL5A1c.5227A>T (p.Thr1743Ser)
c.485A>T
n.71-14852T>A
9g.134835062C>ACA375460479COL5A1c.5228C>A (p.Thr1743Asn)
c.486C>A
n.71-14853G>T
9g.134835062C>GCA375460481COL5A1c.5228C>G (p.Thr1743Ser)
c.486C>G
n.71-14853G>C
 gnomAD v4
9g.134835062C>TCA375460482COL5A1c.5228C>T (p.Thr1743Ile)
c.486C>T
n.71-14853G>A
 gnomAD v4
9g.134835063C>ACA467666982COL5A1c.5229C>A (p.Thr1743=)
c.487C>A
n.71-14854G>T
9g.134835063C=CA1883392988COL5A1c.5229C= (p.Thr1743=)
c.487C=
n.71-14854G=
9g.134835063C>GCA467666980COL5A1c.5229C>G (p.Thr1743=)
c.487C>G
n.71-14854G>C
 dbSNP
9g.134835063C>TCA467666978COL5A1c.5229C>T (p.Thr1743=)
c.487C>T
n.71-14854G>A
9g.134835063_134835064delCA2573144156COL5A1c.5229_5230del (p.Tyr1744ProfsTer?)
c.487_488del
n.71-14855_71-14854del
 ClinVar dbSNP
9g.134835064T>ACA375460485COL5A1c.5230T>A (p.Tyr1744Asn)
c.488T>A
n.71-14855A>T
9g.134835064T>CCA375460486COL5A1c.5230T>C (p.Tyr1744His)
c.488T>C
n.71-14855A>G
 COSMIC
9g.134835064T>GCA375460488COL5A1c.5230T>G (p.Tyr1744Asp)
c.488T>G
n.71-14855A>C
9g.134835065A=CA1883392989COL5A1c.5231A= (p.Tyr1744=)
c.489A=
n.71-14856T=
9g.134835065A>CCA375460494COL5A1c.5231A>C (p.Tyr1744Ser)
c.489A>C
n.71-14856T>G
9g.134835065A>GCA375460492COL5A1c.5231A>G (p.Tyr1744Cys)
c.489A>G
n.71-14856T>C
 dbSNP gnomAD v2 gnomAD v4
9g.134835065A>TCA375460490COL5A1c.5231A>T (p.Tyr1744Phe)
c.489A>T
n.71-14856T>A
9g.134835066C>ACA375460495COL5A1c.5232C>A (p.Tyr1744Ter)
c.490C>A
n.71-14857G>T
9g.134835066C>GCA375460497COL5A1c.5232C>G (p.Tyr1744Ter)
c.490C>G
n.71-14857G>C
9g.134835066C>TCA467666993COL5A1c.5232C>T (p.Tyr1744=)
c.490C>T
n.71-14857G>A
9g.134835067C>ACA375460500COL5A1c.5233C>A (p.His1745Asn)
c.491C>A
n.71-14858G>T
9g.134835067C=CA1883392990COL5A1c.5233C= (p.His1745=)
c.491C=
n.71-14858G=
9g.134835067C>GCA375460501COL5A1c.5233C>G (p.His1745Asp)
c.491C>G
n.71-14858G>C
9g.134835067C>TCA201113792COL5A1c.5233C>T (p.His1745Tyr)
c.491C>T
n.71-14858G>A
 dbSNP gnomAD v4
9g.134835068A=CA1883392991COL5A1c.5234A= (p.His1745=)
c.492A=
n.71-14859T=
9g.134835068A>CCA375460504COL5A1c.5234A>C (p.His1745Pro)
c.492A>C
n.71-14859T>G
9g.134835068A>GCA5320673COL5A1c.5234A>G (p.His1745Arg)
c.492A>G
n.71-14859T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835068A>TCA201113799COL5A1c.5234A>T (p.His1745Leu)
c.492A>T
n.71-14859T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.134835068dupCA2838621513COL5A1c.5234dup (p.His1745GlnfsTer?)
c.492dup
n.71-14859dup
9g.134835069C>ACA375460508COL5A1c.5235C>A (p.His1745Gln)
c.493C>A
n.71-14860G>T
9g.134835069C>GCA375460510COL5A1c.5235C>G (p.His1745Gln)
c.493C>G
n.71-14860G>C
9g.134835069C>TCA467667008COL5A1c.5235C>T (p.His1745=)
c.493C>T
n.71-14860G>A
9g.134835070T>ACA375460512COL5A1c.5236T>A (p.Cys1746Ser)
c.494T>A
n.71-14861A>T
 ClinVar dbSNP gnomAD v4
9g.134835070T>CCA375460514COL5A1c.5236T>C (p.Cys1746Arg)
c.494T>C
n.71-14861A>G
9g.134835070T>GCA375460516COL5A1c.5236T>G (p.Cys1746Gly)
c.494T>G
n.71-14861A>C
9g.134835070T=CA1883392992COL5A1c.5236T= (p.Cys1746=)
c.494T=
n.71-14861A=
9g.134835071G>ACA375460520COL5A1c.5237G>A (p.Cys1746Tyr)
c.495G>A
n.71-14862C>T
9g.134835071G>CCA375460521COL5A1c.5237G>C (p.Cys1746Ser)
c.495G>C
n.71-14862C>G
9g.134835071G=CA1883392993COL5A1c.5237G= (p.Cys1746=)
c.495G=
n.71-14862C=
9g.134835071G>TCA375460518COL5A1c.5237G>T (p.Cys1746Phe)
c.495G>T
n.71-14862C>A
9g.134835072C>ACA375460524COL5A1c.5238C>A (p.Cys1746Ter)
c.496C>A
n.71-14863G>T
9g.134835072C>GCA375460522COL5A1c.5238C>G (p.Cys1746Trp)
c.496C>G
n.71-14863G>C
9g.134835072C>TCA467667017COL5A1c.5238C>T (p.Cys1746=)
c.496C>T
n.71-14863G>A
 gnomAD v4
9g.134835072_134835073delCA2842450426COL5A1c.5238_5239del (p.Cys1746Ter)
c.496_497del
n.71-14864_71-14863del
9g.134835073_134835075dupCA591363548COL5A1c.5239_5241dup (p.Tyr1747_Gln1748insTyr)
c.497_499dup
n.71-14865_71-14863dup
 dbSNP gnomAD v2
9g.134835073_134835075delCA2692461731COL5A1c.5239_5241del (p.Tyr1747del)
c.497_499del
n.71-14865_71-14863del
 gnomAD v4
9g.134835073T>ACA375460529COL5A1c.5239T>A (p.Tyr1747Asn)
c.497T>A
n.71-14864A>T
9g.134835073T>CCA375460526COL5A1c.5239T>C (p.Tyr1747His)
c.497T>C
n.71-14864A>G
9g.134835073T>GCA375460527COL5A1c.5239T>G (p.Tyr1747Asp)
c.497T>G
n.71-14864A>C
9g.134835074A=CA1883392994COL5A1c.5240A= (p.Tyr1747=)
c.498A=
n.71-14865T=
9g.134835074A>CCA375460531COL5A1c.5240A>C (p.Tyr1747Ser)
c.498A>C
n.71-14865T>G
9g.134835074A>GCA375460532COL5A1c.5240A>G (p.Tyr1747Cys)
c.498A>G
n.71-14865T>C
 dbSNP gnomAD v4
9g.134835074A>TCA375460534COL5A1c.5240A>T (p.Tyr1747Phe)
c.498A>T
n.71-14865T>A
9g.134835075C>ACA375460538COL5A1c.5241C>A (p.Tyr1747Ter)
c.499C>A
n.71-14866G>T
 ClinVar
9g.134835075C>GCA375460540COL5A1c.5241C>G (p.Tyr1747Ter)
c.499C>G
n.71-14866G>C
 ClinVar
9g.134835075C>TCA467667030COL5A1c.5241C>T (p.Tyr1747=)
c.499C>T
n.71-14866G>A
9g.134835076C>ACA375460542COL5A1c.5242C>A (p.Gln1748Lys)
c.500C>A
n.71-14867G>T
9g.134835076C=CA1883392995COL5A1c.5242C= (p.Gln1748=)
c.500C=
n.71-14867G=
9g.134835076C>GCA375460543COL5A1c.5242C>G (p.Gln1748Glu)
c.500C>G
n.71-14867G>C
9g.134835076C>TCA201113803COL5A1c.5242C>T (p.Gln1748Ter)
c.500C>T
n.71-14867G>A
 dbSNP
9g.134835077A>CCA375460546COL5A1c.5243A>C (p.Gln1748Pro)
c.501A>C
n.71-14868T>G
9g.134835077A>GCA375460548COL5A1c.5243A>G (p.Gln1748Arg)
c.501A>G
n.71-14868T>C
 ClinVar dbSNP gnomAD v4
9g.134835077A>TCA375460549COL5A1c.5243A>T (p.Gln1748Leu)
c.501A>T
n.71-14868T>A
9g.134835078G>ACA467667038COL5A1c.5244G>A (p.Gln1748=)
c.502G>A
n.71-14869C>T
 gnomAD v4
9g.134835078G>CCA375460554COL5A1c.5244G>C (p.Gln1748His)
c.502G>C
n.71-14869C>G
9g.134835078G>TCA375460552COL5A1c.5244G>T (p.Gln1748His)
c.502G>T
n.71-14869C>A
9g.134835079T>ACA375460556COL5A1c.5245T>A (p.Ser1749Thr)
c.503T>A
n.71-14870A>T
9g.134835079T>CCA375460558COL5A1c.5245T>C (p.Ser1749Pro)
c.503T>C
n.71-14870A>G
9g.134835079T>GCA375460560COL5A1c.5245T>G (p.Ser1749Ala)
c.503T>G
n.71-14870A>C
9g.134835079_134835080insAGCA2839260947COL5A1c.5245_5246insAG (p.Ser1749Ter)
c.503_504insAG
n.71-14871_71-14870insCT
9g.134835080C>ACA375460561COL5A1c.5246C>A (p.Ser1749Ter)
c.504C>A
n.71-14871G>T
9g.134835080C>GCA375460563COL5A1c.5246C>G (p.Ser1749Ter)
c.504C>G
n.71-14871G>C
9g.134835080C>TCA375460565COL5A1c.5246C>T (p.Ser1749Leu)
c.504C>T
n.71-14871G>A
 gnomAD v4
9g.134835081A=CA1883392996COL5A1c.5247A= (p.Ser1749=)
c.505A=
n.71-14872T=
9g.134835081A>CCA467667053COL5A1c.5247A>C (p.Ser1749=)
c.505A>C
n.71-14872T>G
9g.134835081A>GCA5320674COL5A1c.5247A>G (p.Ser1749=)
c.505A>G
n.71-14872T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835081A>TCA467667050COL5A1c.5247A>T (p.Ser1749=)
c.505A>T
n.71-14872T>A
9g.134835082G>ACA375460568COL5A1c.5248G>A (p.Val1750Met)
c.506G>A
n.71-14873C>T
 dbSNP gnomAD v2 gnomAD v4
9g.134835082G>CCA375460570COL5A1c.5248G>C (p.Val1750Leu)
c.506G>C
n.71-14873C>G
9g.134835082G=CA1883392997COL5A1c.5248G= (p.Val1750=)
c.506G=
n.71-14873C=
9g.134835082G>TCA375460571COL5A1c.5248G>T (p.Val1750Leu)
c.506G>T
n.71-14873C>A
9g.134835083T>ACA375460573COL5A1c.5249T>A (p.Val1750Glu)
c.507T>A
n.71-14874A>T
9g.134835083T>CCA375460575COL5A1c.5249T>C (p.Val1750Ala)
c.507T>C
n.71-14874A>G
9g.134835083T>GCA375460577COL5A1c.5249T>G (p.Val1750Gly)
c.507T>G
n.71-14874A>C
9g.134835084G>ACA290317COL5A1c.5250G>A (p.Val1750=)
c.508G>A
n.71-14875C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835084G>CCA467667064COL5A1c.5250G>C (p.Val1750=)
c.508G>C
n.71-14875C>G
9g.134835084G=CA1883392998COL5A1c.5250G= (p.Val1750=)
c.508G=
n.71-14875C=
9g.134835084G>TCA467667062COL5A1c.5250G>T (p.Val1750=)
c.508G>T
n.71-14875C>A
9g.134835085G>ACA375460583COL5A1c.5251G>A (p.Ala1751Thr)
c.509G>A
n.71-14876C>T
9g.134835085G>CCA375460581COL5A1c.5251G>C (p.Ala1751Pro)
c.509G>C
n.71-14876C>G
9g.134835085G>TCA375460582COL5A1c.5251G>T (p.Ala1751Ser)
c.509G>T
n.71-14876C>A
9g.134835086C>ACA375460586COL5A1c.5252C>A (p.Ala1751Asp)
c.510C>A
n.71-14877G>T
9g.134835086C>GCA375460588COL5A1c.5252C>G (p.Ala1751Gly)
c.510C>G
n.71-14877G>C
9g.134835086C>TCA375460589COL5A1c.5252C>T (p.Ala1751Val)
c.510C>T
n.71-14877G>A
9g.134835086_134835087delCA2842450427COL5A1c.5252_5253del (p.Ala1751ValfsTer26)
c.510_511del
n.71-14878_71-14877del
9g.134835087C>ACA467667073COL5A1c.5253C>A (p.Ala1751=)
c.511C>A
n.71-14878G>T
9g.134835087C>GCA467667076COL5A1c.5253C>G (p.Ala1751=)
c.511C>G
n.71-14878G>C
9g.134835087C>TCA467667077COL5A1c.5253C>T (p.Ala1751=)
c.511C>T
n.71-14878G>A
9g.134835088T>ACA375460594COL5A1c.5254T>A (p.Trp1752Arg)
c.512T>A
n.71-14879A>T
9g.134835088T>CCA375460593COL5A1c.5254T>C (p.Trp1752Arg)
c.512T>C
n.71-14879A>G
9g.134835088T>GCA375460591COL5A1c.5254T>G (p.Trp1752Gly)
c.512T>G
n.71-14879A>C
9g.134835089G>ACA375460596COL5A1c.5255G>A (p.Trp1752Ter)
c.513G>A
n.71-14880C>T
9g.134835089G>CCA5320675COL5A1c.5255G>C (p.Trp1752Ser)
c.513G>C
n.71-14880C>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.134835089G=CA1883392999COL5A1c.5255G= (p.Trp1752=)
c.513G=
n.71-14880C=
9g.134835089G>TCA375460599COL5A1c.5255G>T (p.Trp1752Leu)
c.513G>T
n.71-14880C>A
9g.134835089_134835091delCA2842450428COL5A1c.5255_5257del (p.Trp1752Ter)
c.513_515del
n.71-14882_71-14880del
9g.134835090G>ACA375460601COL5A1c.5256G>A (p.Trp1752Ter)
c.514G>A
n.71-14881C>T
9g.134835090G>CCA375460603COL5A1c.5256G>C (p.Trp1752Cys)
c.514G>C
n.71-14881C>G
9g.134835090G>TCA375460604COL5A1c.5256G>T (p.Trp1752Cys)
c.514G>T
n.71-14881C>A
9g.134835091C>ACA375460606COL5A1c.5257C>A (p.Gln1753Lys)
c.515C>A
n.71-14882G>T
 gnomAD v4
9g.134835091C>GCA375460610COL5A1c.5257C>G (p.Gln1753Glu)
c.515C>G
n.71-14882G>C
9g.134835091C>TCA375460608COL5A1c.5257C>T (p.Gln1753Ter)
c.515C>T
n.71-14882G>A
9g.134835092A>CCA375460612COL5A1c.5258A>C (p.Gln1753Pro)
c.516A>C
n.71-14883T>G
9g.134835092A>GCA375460614COL5A1c.5258A>G (p.Gln1753Arg)
c.516A>G
n.71-14883T>C
9g.134835092A>TCA375460616COL5A1c.5258A>T (p.Gln1753Leu)
c.516A>T
n.71-14883T>A
9g.134835093G>ACA467667094COL5A1c.5259G>A (p.Gln1753=)
c.517G>A
n.71-14884C>T
9g.134835093G>CCA375460617COL5A1c.5259G>C (p.Gln1753His)
c.517G>C
n.71-14884C>G
9g.134835093G>TCA375460619COL5A1c.5259G>T (p.Gln1753His)
c.517G>T
n.71-14884C>A
9g.134835094G>ACA375460621COL5A1c.5260G>A (p.Asp1754Asn)
c.518G>A
n.71-14885C>T
9g.134835094G>CCA375460623COL5A1c.5260G>C (p.Asp1754His)
c.518G>C
n.71-14885C>G
9g.134835094G>TCA375460625COL5A1c.5260G>T (p.Asp1754Tyr)
c.518G>T
n.71-14885C>A
9g.134835095A>CCA375460627COL5A1c.5261A>C (p.Asp1754Ala)
c.519A>C
n.71-14886T>G
9g.134835095A>GCA375460629COL5A1c.5261A>G (p.Asp1754Gly)
c.519A>G
n.71-14886T>C
9g.134835095A>TCA375460631COL5A1c.5261A>T (p.Asp1754Val)
c.519A>T
n.71-14886T>A
9g.134835096C>ACA375460635COL5A1c.5262C>A (p.Asp1754Glu)
c.520C>A
n.71-14887G>T
9g.134835096C=CA1883393000COL5A1c.5262C= (p.Asp1754=)
c.520C=
n.71-14887G=
9g.134835096C>GCA375460633COL5A1c.5262C>G (p.Asp1754Glu)
c.520C>G
n.71-14887G>C
9g.134835096C>TCA5320676COL5A1c.5262C>T (p.Asp1754=)
c.520C>T
n.71-14887G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835097G>ACA5320677COL5A1c.5263G>A (p.Ala1755Thr)
c.521G>A
n.71-14888C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835097G>CCA375460638COL5A1c.5263G>C (p.Ala1755Pro)
c.521G>C
n.71-14888C>G
 COSMIC
9g.134835097G=CA1883393001COL5A1c.5263G= (p.Ala1755=)
c.521G=
n.71-14888C=
9g.134835097G>TCA375460637COL5A1c.5263G>T (p.Ala1755Ser)
c.521G>T
n.71-14888C>A
9g.134835102_134835111delCA2695211572COL5A1c.5268_5277del (p.Gly1758ThrfsTer?)
c.526_535del
n.71-14897_71-14888del
9g.134835098C>ACA375460640COL5A1c.5264C>A (p.Ala1755Glu)
c.522C>A
n.71-14889G>T
9g.134835098C=CA1883393002COL5A1c.5264C= (p.Ala1755=)
c.522C=
n.71-14889G=
9g.134835098C>GCA375460642COL5A1c.5264C>G (p.Ala1755Gly)
c.522C>G
n.71-14889G>C
9g.134835098C>TCA5320678COL5A1c.5264C>T (p.Ala1755Val)
c.522C>T
n.71-14889G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835099A=CA1883393003COL5A1c.5265A= (p.Ala1755=)
c.523A=
n.71-14890T=
9g.134835099A>CCA467667115COL5A1c.5265A>C (p.Ala1755=)
c.523A>C
n.71-14890T>G
 dbSNP
9g.134835099A>GCA467667113COL5A1c.5265A>G (p.Ala1755=)
c.523A>G
n.71-14890T>C
 gnomAD v4
9g.134835099A>TCA467667118COL5A1c.5265A>T (p.Ala1755=)
c.523A>T
n.71-14890T>A
9g.134835100G>ACA322619COL5A1c.5266G>A (p.Ala1756Thr)
c.524G>A
n.71-14891C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835100G>CCA375460644COL5A1c.5266G>C (p.Ala1756Pro)
c.524G>C
n.71-14891C>G
9g.134835100G=CA1883393004COL5A1c.5266G= (p.Ala1756=)
c.524G=
n.71-14891C=
9g.134835100G>TCA375460645COL5A1c.5266G>T (p.Ala1756Ser)
c.524G>T
n.71-14891C>A
9g.134835101C>ACA375460647COL5A1c.5267C>A (p.Ala1756Asp)
c.525C>A
n.71-14892G>T
9g.134835101C=CA1883393005COL5A1c.5267C= (p.Ala1756=)
c.525C=
n.71-14892G=
9g.134835101C>GCA375460648COL5A1c.5267C>G (p.Ala1756Gly)
c.525C>G
n.71-14892G>C
 ClinVar dbSNP gnomAD v4
9g.134835101C>TCA375460649COL5A1c.5267C>T (p.Ala1756Val)
c.525C>T
n.71-14892G>A
9g.134835102C>ACA467667126COL5A1c.5268C>A (p.Ala1756=)
c.526C>A
n.71-14893G>T
9g.134835102C>GCA467667131COL5A1c.5268C>G (p.Ala1756=)
c.526C>G
n.71-14893G>C
9g.134835102C>TCA467667133COL5A1c.5268C>T (p.Ala1756=)
c.526C>T
n.71-14893G>A
 gnomAD v4
9g.134835103A>CCA375460652COL5A1c.5269A>C (p.Thr1757Pro)
c.527A>C
n.71-14894T>G
9g.134835103A>GCA375460653COL5A1c.5269A>G (p.Thr1757Ala)
c.527A>G
n.71-14894T>C
9g.134835103A>TCA375460655COL5A1c.5269A>T (p.Thr1757Ser)
c.527A>T
n.71-14894T>A
9g.134835104C>ACA375460657COL5A1c.5270C>A (p.Thr1757Lys)
c.528C>A
n.71-14895G>T
9g.134835104C=CA1883393006COL5A1c.5270C= (p.Thr1757=)
c.528C=
n.71-14895G=
9g.134835104C>GCA375460659COL5A1c.5270C>G (p.Thr1757Arg)
c.528C>G
n.71-14895G>C
9g.134835104C>TCA290320COL5A1c.5270C>T (p.Thr1757Met)
c.528C>T
n.71-14895G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835105G>ACA5320679COL5A1c.5271G>A (p.Thr1757=)
c.529G>A
n.71-14896C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835105G>CCA467667141COL5A1c.5271G>C (p.Thr1757=)
c.529G>C
n.71-14896C>G
9g.134835105G=CA1883393007COL5A1c.5271G= (p.Thr1757=)
c.529G=
n.71-14896C=
9g.134835105G>TCA467667142COL5A1c.5271G>T (p.Thr1757=)
c.529G>T
n.71-14896C>A
9g.134835107dupCA2838621510COL5A1c.5273dup (p.Ser1759GlnfsTer19)
c.531dup
n.71-14896dup
9g.134835106G>ACA375460663COL5A1c.5272G>A (p.Gly1758Ser)
c.530G>A
n.71-14897C>T
9g.134835106G>CCA375460664COL5A1c.5272G>C (p.Gly1758Arg)
c.530G>C
n.71-14897C>G
 gnomAD v4
9g.134835106G>TCA375460665COL5A1c.5272G>T (p.Gly1758Cys)
c.530G>T
n.71-14897C>A
9g.134835107G>ACA375460666COL5A1c.5273G>A (p.Gly1758Asp)
c.531G>A
n.71-14898C>T
9g.134835107G>CCA375460668COL5A1c.5273G>C (p.Gly1758Ala)
c.531G>C
n.71-14898C>G
9g.134835107G>TCA375460669COL5A1c.5273G>T (p.Gly1758Val)
c.531G>T
n.71-14898C>A
9g.134835108C>ACA467667157COL5A1c.5274C>A (p.Gly1758=)
c.532C>A
n.71-14899G>T
 gnomAD v4 COSMIC
9g.134835108C=CA1883393008COL5A1c.5274C= (p.Gly1758=)
c.532C=
n.71-14899G=
9g.134835108C>GCA467667158COL5A1c.5274C>G (p.Gly1758=)
c.532C>G
n.71-14899G>C
9g.134835108C>TCA467667160COL5A1c.5274C>T (p.Gly1758=)
c.532C>T
n.71-14899G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134835109A>CCA375460672COL5A1c.5275A>C (p.Ser1759Arg)
c.533A>C
n.71-14900T>G
9g.134835109A>GCA375460674COL5A1c.5275A>G (p.Ser1759Gly)
c.533A>G
n.71-14900T>C
9g.134835109A>TCA375460675COL5A1c.5275A>T (p.Ser1759Cys)
c.533A>T
n.71-14900T>A
9g.134835110G>ACA375460679COL5A1c.5276G>A (p.Ser1759Asn)
c.534G>A
n.71-14901C>T
9g.134835110G>CCA375460681COL5A1c.5276G>C (p.Ser1759Thr)
c.534G>C
n.71-14901C>G
9g.134835110G>TCA375460677COL5A1c.5276G>T (p.Ser1759Ile)
c.534G>T
n.71-14901C>A
9g.134835111C>ACA375460682COL5A1c.5277C>A (p.Ser1759Arg)
c.535C>A
n.71-14902G>T
9g.134835111C>GCA375460684COL5A1c.5277C>G (p.Ser1759Arg)
c.535C>G
n.71-14902G>C
9g.134835111C>TCA467667170COL5A1c.5277C>T (p.Ser1759=)
c.535C>T
n.71-14902G>A
9g.134835112T>ACA375460686COL5A1c.5278T>A (p.Tyr1760Asn)
c.536T>A
n.71-14903A>T
9g.134835112T>CCA375460687COL5A1c.5278T>C (p.Tyr1760His)
c.536T>C
n.71-14903A>G
9g.134835112T>GCA375460689COL5A1c.5278T>G (p.Tyr1760Asp)
c.536T>G
n.71-14903A>C
9g.134835112_134835115delinsTACGCA1883393009COL5A1c.5278_5281delinsTACG (p.Tyr1760=)
c.536_539delinsTACG
n.71-14906_71-14903delinsCGTA
9g.134835113A=CA1883393010COL5A1c.5279A= (p.Tyr1760=)
c.537A=
n.71-14904T=
9g.134835113A>CCA375460695COL5A1c.5279A>C (p.Tyr1760Ser)
c.537A>C
n.71-14904T>G
 dbSNP gnomAD v3 gnomAD v4
9g.134835113A>GCA375460693COL5A1c.5279A>G (p.Tyr1760Cys)
c.537A>G
n.71-14904T>C
9g.134835113A>TCA375460691COL5A1c.5279A>T (p.Tyr1760Phe)
c.537A>T
n.71-14904T>A
9g.134835115_134835117delCA1129890367COL5A1c.5281_5283del (p.Asp1761del)
c.539_541del
n.71-14906_71-14904del
 dbSNP gnomAD v3 gnomAD v4
9g.134835114C>ACA375460697COL5A1c.5280C>A (p.Tyr1760Ter)
c.538C>A
n.71-14905G>T
9g.134835114C=CA1883393011COL5A1c.5280C= (p.Tyr1760=)
c.538C=
n.71-14905G=
9g.134835114C>GCA375460699COL5A1c.5280C>G (p.Tyr1760Ter)
c.538C>G
n.71-14905G>C
9g.134835114C>TCA5320680COL5A1c.5280C>T (p.Tyr1760=)
c.538C>T
n.71-14905G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134835115G>ACA5320681COL5A1c.5281G>A (p.Asp1761Asn)
c.539G>A
n.71-14906C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134835115G>CCA375460702COL5A1c.5281G>C (p.Asp1761His)
c.539G>C
n.71-14906C>G
 gnomAD v4
9g.134835115G=CA1883393012COL5A1c.5281G= (p.Asp1761=)
c.539G=
n.71-14906C=
9g.134835115G>TCA375460704COL5A1c.5281G>T (p.Asp1761Tyr)
c.539G>T
n.71-14906C>A
 COSMIC
9g.134835116A>CCA375460706COL5A1c.5282A>C (p.Asp1761Ala)
c.540A>C
n.71-14907T>G
9g.134835116A>GCA375460708COL5A1c.5282A>G (p.Asp1761Gly)
c.540A>G
n.71-14907T>C
9g.134835116A>TCA375460707COL5A1c.5282A>T (p.Asp1761Val)
c.540A>T
n.71-14907T>A
 gnomAD v4
9g.134835117C>ACA375460710COL5A1c.5283C>A (p.Asp1761Glu)
c.541C>A
n.71-14908G>T
 gnomAD v4
9g.134835117C>GCA375460711COL5A1c.5283C>G (p.Asp1761Glu)
c.541C>G
n.71-14908G>C
9g.134835117C>TCA467667183COL5A1c.5283C>T (p.Asp1761=)
c.541C>T
n.71-14908G>A
9g.134835118A>CCA375460712COL5A1c.5284A>C (p.Lys1762Gln)
c.542A>C
n.71-14909T>G
9g.134835118A>GCA375460713COL5A1c.5284A>G (p.Lys1762Glu)
c.542A>G
n.71-14909T>C
 gnomAD v4
9g.134835118A>TCA375460714COL5A1c.5284A>T (p.Lys1762Ter)
c.542A>T
n.71-14909T>A
9g.134835119A=CA1883393013COL5A1c.5285A= (p.Lys1762=)
c.543A=
n.71-14910T=
9g.134835119A>CCA375460716COL5A1c.5285A>C (p.Lys1762Thr)
c.543A>C
n.71-14910T>G
9g.134835119A>GCA5320682COL5A1c.5285A>G (p.Lys1762Arg)
c.543A>G
n.71-14910T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134835119A>TCA375460718COL5A1c.5285A>T (p.Lys1762Met)
c.543A>T
n.71-14910T>A
9g.134835120G>ACA467667193COL5A1c.5286G>A (p.Lys1762=)
c.544G>A
n.71-14911C>T
9g.134835120G>CCA375460720COL5A1c.5286G>C (p.Lys1762Asn)
c.544G>C
n.71-14911C>G
9g.134835120G>TCA375460722COL5A1c.5286G>T (p.Lys1762Asn)
c.544G>T
n.71-14911C>A
9g.134835121delCA2695211573COL5A1c.5287del (p.Ala1763ProfsTer?)
c.545del
n.71-14911del
9g.134835121G>ACA375460724COL5A1c.5287G>A (p.Ala1763Thr)
c.545G>A
n.71-14912C>T
 dbSNP gnomAD v4
9g.134835121G>CCA375460726COL5A1c.5287G>C (p.Ala1763Pro)
c.545G>C
n.71-14912C>G
9g.134835121G=CA1883393014COL5A1c.5287G= (p.Ala1763=)
c.545G=
n.71-14912C=
9g.134835121G>TCA375460728COL5A1c.5287G>T (p.Ala1763Ser)
c.545G>T
n.71-14912C>A
9g.134835122C>ACA375460732COL5A1c.5288C>A (p.Ala1763Asp)
c.546C>A
n.71-14913G>T
9g.134835122C=CA1883393015COL5A1c.5288C= (p.Ala1763=)
c.546C=
n.71-14913G=
9g.134835122C>GCA375460734COL5A1c.5288C>G (p.Ala1763Gly)
c.546C>G
n.71-14913G>C
9g.134835122C>TCA375460730COL5A1c.5288C>T (p.Ala1763Val)
c.546C>T
n.71-14913G>A
 ClinVar dbSNP gnomAD v2
9g.134835123C>ACA467667209COL5A1c.5289C>A (p.Ala1763=)
c.547C>A
n.71-14914G>T
9g.134835123C=CA1883393016COL5A1c.5289C= (p.Ala1763=)
c.547C=
n.71-14914G=
9g.134835123C>GCA467667205COL5A1c.5289C>G (p.Ala1763=)
c.547C>G
n.71-14914G>C
9g.134835123C>TCA467667207COL5A1c.5289C>T (p.Ala1763=)
c.547C>T
n.71-14914G>A
 dbSNP gnomAD v4
9g.134835124C>ACA375460736COL5A1c.5290C>A (p.Leu1764Ile)
c.548C>A
n.71-14915G>T
9g.134835124C>GCA375460735COL5A1c.5290C>G (p.Leu1764Val)
c.548C>G
n.71-14915G>C
9g.134835124C>TCA375460738COL5A1c.5290C>T (p.Leu1764Phe)
c.548C>T
n.71-14915G>A
9g.134835125T>ACA375460740COL5A1c.5291T>A (p.Leu1764His)
c.549T>A
n.71-14916A>T
 ClinVar dbSNP
9g.134835125T>CCA375460744COL5A1c.5291T>C (p.Leu1764Pro)
c.549T>C
n.71-14916A>G
9g.134835125T>GCA375460742COL5A1c.5291T>G (p.Leu1764Arg)
c.549T>G
n.71-14916A>C
 gnomAD v4
9g.134835125T=CA1883393017COL5A1c.5291T= (p.Leu1764=)
c.549T=
n.71-14916A=
9g.134835126C>ACA467667216COL5A1c.5292C>A (p.Leu1764=)
c.550C>A
n.71-14917G>T
9g.134835126C>GCA467667218COL5A1c.5292C>G (p.Leu1764=)
c.550C>G
n.71-14917G>C
9g.134835126C>TCA467667215COL5A1c.5292C>T (p.Leu1764=)
c.550C>T
n.71-14917G>A
9g.134835127dupCA916083086COL5A1c.5293dup (p.Arg1765ProfsTer13)
c.551dup
n.71-14917dup
 ClinVar dbSNP
9g.134835127C>ACA375460746COL5A1c.5293C>A (p.Arg1765Ser)
c.551C>A
n.71-14918G>T
9g.134835127C=CA1883393018COL5A1c.5293C= (p.Arg1765=)
c.551C=
n.71-14918G=
9g.134835127C>GCA375460749COL5A1c.5293C>G (p.Arg1765Gly)
c.551C>G
n.71-14918G>C
9g.134835127C>TCA5320683COL5A1c.5293C>T (p.Arg1765Cys)
c.551C>T
n.71-14918G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134835128G>ACA5320684COL5A1c.5294G>A (p.Arg1765His)
c.552G>A
n.71-14919C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134835128G>CCA375460752COL5A1c.5294G>C (p.Arg1765Pro)
c.552G>C
n.71-14919C>G
9g.134835128G=CA1883393019COL5A1c.5294G= (p.Arg1765=)
c.552G=
n.71-14919C=
9g.134835128G>TCA375460754COL5A1c.5294G>T (p.Arg1765Leu)
c.552G>T
n.71-14919C>A
9g.134835128dupCA2580617145COL5A1c.5294dup (p.Phe1766LeufsTer12)
c.552dup
n.71-14919dup
 ClinVar
9g.134835131_134835139delCA2573053136COL5A1c.5297_5305del (p.Phe1766_Gly1768del)
c.555_563del
n.71-14927_71-14919del
 ClinVar dbSNP
9g.134835129C>ACA467667225COL5A1c.5295C>A (p.Arg1765=)
c.553C>A
n.71-14920G>T
9g.134835129C=CA1883393020COL5A1c.5295C= (p.Arg1765=)
c.553C=
n.71-14920G=
9g.134835129C>GCA467667226COL5A1c.5295C>G (p.Arg1765=)
c.553C>G
n.71-14920G>C
9g.134835129C>TCA467667227COL5A1c.5295C>T (p.Arg1765=)
c.553C>T
n.71-14920G>A
 ClinVar dbSNP gnomAD v4
9g.134835130T>ACA375460756COL5A1c.5296T>A (p.Phe1766Ile)
c.554T>A
n.71-14921A>T
9g.134835130T>CCA375460758COL5A1c.5296T>C (p.Phe1766Leu)
c.554T>C
n.71-14921A>G
9g.134835130T>GCA375460759COL5A1c.5296T>G (p.Phe1766Val)
c.554T>G
n.71-14921A>C

Number of alleles fetched