Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94404602_94404693delCA2776990967COL1A2c.324+2_325del
c.318+2_319del
7g.94404688T>CCA576321553COL1A2c.325-5T>C (n.325-5T>C)
c.319-5T>C (n.319-5T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404688T=CA1726792195COL1A2c.325-5T= (n.325-5T=)
c.319-5T= (n.319-5T=)
7g.94404690T>GCA2683767104COL1A2c.325-3T>G (n.325-3T>G)
c.319-3T>G (n.319-3T>G)
 gnomAD v4
7g.94404691A>CCA368219513COL1A2c.325-2A>C (n.325-2A>C)
c.319-2A>C (n.319-2A>C)
7g.94404691A>GCA368219514COL1A2c.325-2A>G (n.325-2A>G)
c.319-2A>G (n.319-2A>G)
7g.94404691A>TCA368219515COL1A2c.325-2A>T (n.325-2A>T)
c.319-2A>T (n.319-2A>T)
7g.94404692G>ACA368219518COL1A2c.325-1G>A (n.325-1G>A)
c.319-1G>A (n.319-1G>A)
7g.94404692G>CCA368219516COL1A2c.325-1G>C (n.325-1G>C)
c.319-1G>C (n.319-1G>C)
7g.94404692G>TCA368219517COL1A2c.325-1G>T (n.325-1G>T)
c.319-1G>T (n.319-1G>T)
7g.94404693G>ACA368219519COL1A2c.325G>A (p.Gly109Ser)
c.319G>A (p.Gly107Ser)
7g.94404693G>CCA368219520COL1A2c.325G>C (p.Gly109Arg)
c.319G>C (p.Gly107Arg)
 ClinVar
7g.94404693G>TCA368219521COL1A2c.325G>T (p.Gly109Cys)
c.319G>T (p.Gly107Cys)
 COSMIC
7g.94404694G>ACA368219522COL1A2c.326G>A (p.Gly109Asp)
c.320G>A (p.Gly107Asp)
 ClinVar dbSNP
7g.94404694G>CCA368219523COL1A2c.326G>C (p.Gly109Ala)
c.320G>C (p.Gly107Ala)
7g.94404694G=CA1726792196COL1A2c.326G= (p.Gly109=)
c.320G= (p.Gly107=)
7g.94404694G>TCA368219524COL1A2c.326G>T (p.Gly109Val)
c.320G>T (p.Gly107Val)
 ClinVar dbSNP gnomAD v4
7g.94404694_94404695insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCACCA2776990983COL1A2c.326_327insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC (p.Gly109_Pro110insLysGlnSerSerIleIleTrpAlaIlePheSerThrIleIleSerTyrAsnArgLeuPheGlnLysAlaValSerIleMetPheTyrPheSerPheThr)
c.320_321insAAAACAATCTTCCATCATTTGGGCCATATTTTCAACAATAATATCATATAATAGACTCTTCCAGAAGGCTGTTTCAATAATGTTTTATTTTTCCTTCAC (p.Gly107_Pro108insLysGlnSerSerIleIleTrpAlaIlePheSerThrIleIleSerTyrAsnArgLeuPheGlnLysAlaValSerIleMetPheTyrPheSerPheThr)
7g.94404695C>ACA456487091COL1A2c.327C>A (p.Gly109=)
c.321C>A (p.Gly107=)
 dbSNP gnomAD v2 gnomAD v4
7g.94404695C=CA1726792197COL1A2c.327C= (p.Gly109=)
c.321C= (p.Gly107=)
7g.94404695C>GCA456487090COL1A2c.327C>G (p.Gly109=)
c.321C>G (p.Gly107=)
7g.94404695C>TCA4346631COL1A2c.327C>T (p.Gly109=)
c.321C>T (p.Gly107=)
 dbSNP ExAC gnomAD v4
7g.94404696C>ACA368219525COL1A2c.328C>A (p.Pro110Thr)
c.322C>A (p.Pro108Thr)
7g.94404696C>GCA368219526COL1A2c.328C>G (p.Pro110Ala)
c.322C>G (p.Pro108Ala)
7g.94404696C>TCA368219527COL1A2c.328C>T (p.Pro110Ser)
c.322C>T (p.Pro108Ser)
7g.94404697C>ACA368219528COL1A2c.329C>A (p.Pro110His)
c.323C>A (p.Pro108His)
7g.94404697C=CA1726792198COL1A2c.329C= (p.Pro110=)
c.323C= (p.Pro108=)
7g.94404697C>GCA368219529COL1A2c.329C>G (p.Pro110Arg)
c.323C>G (p.Pro108Arg)
7g.94404697C>TCA4346632COL1A2c.329C>T (p.Pro110Leu)
c.323C>T (p.Pro108Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404698T>ACA456487095COL1A2c.330T>A (p.Pro110=)
c.324T>A (p.Pro108=)
7g.94404698T>CCA456487096COL1A2c.330T>C (p.Pro110=)
c.324T>C (p.Pro108=)
7g.94404698T>GCA456487097COL1A2c.330T>G (p.Pro110=)
c.324T>G (p.Pro108=)
 dbSNP
7g.94404698T=CA1726792199COL1A2c.330T= (p.Pro110=)
c.324T= (p.Pro108=)
7g.94404699C>ACA368219530COL1A2c.331C>A (p.Gln111Lys)
c.325C>A (p.Gln109Lys)
7g.94404699C>GCA368219532COL1A2c.331C>G (p.Gln111Glu)
c.325C>G (p.Gln109Glu)
 COSMIC
7g.94404699C>TCA368219531COL1A2c.331C>T (p.Gln111Ter)
c.325C>T (p.Gln109Ter)
7g.94404700A>CCA368219533COL1A2c.332A>C (p.Gln111Pro)
c.326A>C (p.Gln109Pro)
7g.94404700A>GCA368219534COL1A2c.332A>G (p.Gln111Arg)
c.326A>G (p.Gln109Arg)
7g.94404700A>TCA368219535COL1A2c.332A>T (p.Gln111Leu)
c.326A>T (p.Gln109Leu)
7g.94404701A=CA1726792200COL1A2c.333A= (p.Gln111=)
c.327A= (p.Gln109=)
7g.94404701A>CCA368219536COL1A2c.333A>C (p.Gln111His)
c.327A>C (p.Gln109His)
7g.94404701A>GCA456487100COL1A2c.333A>G (p.Gln111=)
c.327A>G (p.Gln109=)
 ClinVar dbSNP gnomAD v4
7g.94404701A>TCA368219537COL1A2c.333A>T (p.Gln111His)
c.327A>T (p.Gln109His)
7g.94404702G>ACA368219538COL1A2c.334G>A (p.Gly112Ser)
c.328G>A (p.Gly110Ser)
 ClinVar dbSNP
7g.94404702G>CCA368219539COL1A2c.334G>C (p.Gly112Arg)
c.328G>C (p.Gly110Arg)
7g.94404702G=CA1726792201COL1A2c.334G= (p.Gly112=)
c.328G= (p.Gly110=)
7g.94404702G>TCA368219540COL1A2c.334G>T (p.Gly112Cys)
c.328G>T (p.Gly110Cys)
7g.94404703G>ACA368219541COL1A2c.335G>A (p.Gly112Asp)
c.329G>A (p.Gly110Asp)
 ClinVar dbSNP
7g.94404703G>CCA368219542COL1A2c.335G>C (p.Gly112Ala)
c.329G>C (p.Gly110Ala)
7g.94404703G=CA1726792202COL1A2c.335G= (p.Gly112=)
c.329G= (p.Gly110=)
7g.94404703G>TCA368219543COL1A2c.335G>T (p.Gly112Val)
c.329G>T (p.Gly110Val)
 ClinVar
7g.94404704T>ACA456487104COL1A2c.336T>A (p.Gly112=)
c.330T>A (p.Gly110=)
7g.94404704T>CCA456487105COL1A2c.336T>C (p.Gly112=)
c.330T>C (p.Gly110=)
7g.94404704T>GCA456487106COL1A2c.336T>G (p.Gly112=)
c.330T>G (p.Gly110=)
7g.94404705T>ACA368219546COL1A2c.337T>A (p.Phe113Ile)
c.331T>A (p.Phe111Ile)
7g.94404705T>CCA368219545COL1A2c.337T>C (p.Phe113Leu)
c.331T>C (p.Phe111Leu)
7g.94404705T>GCA368219544COL1A2c.337T>G (p.Phe113Val)
c.331T>G (p.Phe111Val)
7g.94404706T>ACA368219547COL1A2c.338T>A (p.Phe113Tyr)
c.332T>A (p.Phe111Tyr)
7g.94404706T>CCA368219548COL1A2c.338T>C (p.Phe113Ser)
c.332T>C (p.Phe111Ser)
7g.94404706T>GCA368219549COL1A2c.338T>G (p.Phe113Cys)
c.332T>G (p.Phe111Cys)
7g.94404707C>ACA368219550COL1A2c.339C>A (p.Phe113Leu)
c.333C>A (p.Phe111Leu)
7g.94404707C>GCA368219551COL1A2c.339C>G (p.Phe113Leu)
c.333C>G (p.Phe111Leu)
7g.94404707C>TCA456487109COL1A2c.339C>T (p.Phe113=)
c.333C>T (p.Phe111=)
7g.94404708C>ACA368219552COL1A2c.340C>A (p.Gln114Lys)
c.334C>A (p.Gln112Lys)
7g.94404708C>GCA368219553COL1A2c.340C>G (p.Gln114Glu)
c.334C>G (p.Gln112Glu)
7g.94404708C>TCA368219554COL1A2c.340C>T (p.Gln114Ter)
c.334C>T (p.Gln112Ter)
7g.94404709A>CCA368219555COL1A2c.341A>C (p.Gln114Pro)
c.335A>C (p.Gln112Pro)
7g.94404709A>GCA368219556COL1A2c.341A>G (p.Gln114Arg)
c.335A>G (p.Gln112Arg)
 ClinVar dbSNP
7g.94404709A>TCA368219557COL1A2c.341A>T (p.Gln114Leu)
c.335A>T (p.Gln112Leu)
7g.94404710A>CCA368219558COL1A2c.342A>C (p.Gln114His)
c.336A>C (p.Gln112His)
7g.94404710A>GCA456487111COL1A2c.342A>G (p.Gln114=)
c.336A>G (p.Gln112=)
7g.94404710A>TCA368219559COL1A2c.342A>T (p.Gln114His)
c.336A>T (p.Gln112His)
7g.94404711G>ACA368219561COL1A2c.343G>A (p.Gly115Arg)
c.337G>A (p.Gly113Arg)
 ClinVar dbSNP
7g.94404711G>CCA368219562COL1A2c.343G>C (p.Gly115Arg)
c.337G>C (p.Gly113Arg)
7g.94404711G=CA1726792203COL1A2c.343G= (p.Gly115=)
c.337G= (p.Gly113=)
7g.94404711G>TCA368219560COL1A2c.343G>T (p.Gly115Ter)
c.337G>T (p.Gly113Ter)
7g.94404712G>ACA368219563COL1A2c.344G>A (p.Gly115Glu)
c.338G>A (p.Gly113Glu)
 gnomAD v4
7g.94404712G>CCA368219565COL1A2c.344G>C (p.Gly115Ala)
c.338G>C (p.Gly113Ala)
7g.94404712G>TCA368219564COL1A2c.344G>T (p.Gly115Val)
c.338G>T (p.Gly113Val)
7g.94404713A>CCA456487114COL1A2c.345A>C (p.Gly115=)
c.339A>C (p.Gly113=)
7g.94404713A>GCA456487116COL1A2c.345A>G (p.Gly115=)
c.339A>G (p.Gly113=)
7g.94404713A>TCA456487118COL1A2c.345A>T (p.Gly115=)
c.339A>T (p.Gly113=)
 gnomAD v4
7g.94404714C>ACA4346633COL1A2c.346C>A (p.Pro116Thr)
c.340C>A (p.Pro114Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.94404714C=CA1726792204COL1A2c.346C= (p.Pro116=)
c.340C= (p.Pro114=)
7g.94404714C>GCA368219567COL1A2c.346C>G (p.Pro116Ala)
c.340C>G (p.Pro114Ala)
7g.94404714C>TCA368219566COL1A2c.346C>T (p.Pro116Ser)
c.340C>T (p.Pro114Ser)
 ClinVar
7g.94404715C>ACA368219568COL1A2c.347C>A (p.Pro116His)
c.341C>A (p.Pro114His)
7g.94404715C>GCA368219570COL1A2c.347C>G (p.Pro116Arg)
c.341C>G (p.Pro114Arg)
7g.94404715C>TCA368219569COL1A2c.347C>T (p.Pro116Leu)
c.341C>T (p.Pro114Leu)
7g.94404716T>ACA456487120COL1A2c.348T>A (p.Pro116=)
c.342T>A (p.Pro114=)
7g.94404716T>CCA456487122COL1A2c.348T>C (p.Pro116=)
c.342T>C (p.Pro114=)
 ClinVar
7g.94404716T>GCA456487121COL1A2c.348T>G (p.Pro116=)
c.342T>G (p.Pro114=)
7g.94404717G>ACA368219571COL1A2c.349G>A (p.Ala117Thr)
c.343G>A (p.Ala115Thr)
7g.94404717G>CCA368219572COL1A2c.349G>C (p.Ala117Pro)
c.343G>C (p.Ala115Pro)
7g.94404717G>TCA368219573COL1A2c.349G>T (p.Ala117Ser)
c.343G>T (p.Ala115Ser)
7g.94404718C>ACA368219574COL1A2c.350C>A (p.Ala117Asp)
c.344C>A (p.Ala115Asp)
7g.94404718C>GCA368219575COL1A2c.350C>G (p.Ala117Gly)
c.344C>G (p.Ala115Gly)
7g.94404718C>TCA368219576COL1A2c.350C>T (p.Ala117Val)
c.344C>T (p.Ala115Val)
 ClinVar gnomAD v4
7g.94404719T>ACA4346634COL1A2c.351T>A (p.Ala117=)
c.345T>A (p.Ala115=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404719T>CCA456487126COL1A2c.351T>C (p.Ala117=)
c.345T>C (p.Ala115=)
 gnomAD v4
7g.94404719T>GCA456487127COL1A2c.351T>G (p.Ala117=)
c.345T>G (p.Ala115=)
7g.94404719T=CA1726792205COL1A2c.351T= (p.Ala117=)
c.345T= (p.Ala115=)
7g.94404720G>ACA368219577COL1A2c.352G>A (p.Gly118Ser)
c.346G>A (p.Gly116Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.94404720G>CCA368219578COL1A2c.352G>C (p.Gly118Arg)
c.346G>C (p.Gly116Arg)
7g.94404720G=CA1726792206COL1A2c.352G= (p.Gly118=)
c.346G= (p.Gly116=)
7g.94404720G>TCA368219579COL1A2c.352G>T (p.Gly118Cys)
c.346G>T (p.Gly116Cys)
7g.94404721G>ACA162914240COL1A2c.353G>A (p.Gly118Asp)
c.347G>A (p.Gly116Asp)
 ClinVar dbSNP
7g.94404721G>CCA368219581COL1A2c.353G>C (p.Gly118Ala)
c.347G>C (p.Gly116Ala)
7g.94404721G=CA1726792207COL1A2c.353G= (p.Gly118=)
c.347G= (p.Gly116=)
7g.94404721G>TCA368219580COL1A2c.353G>T (p.Gly118Val)
c.347G>T (p.Gly116Val)
 ClinVar dbSNP
7g.94404722T>ACA456487131COL1A2c.354T>A (p.Gly118=)
c.348T>A (p.Gly116=)
7g.94404722T>CCA162914245COL1A2c.354T>C (p.Gly118=)
c.348T>C (p.Gly116=)
 dbSNP gnomAD v3 gnomAD v4
7g.94404722T>GCA456487133COL1A2c.354T>G (p.Gly118=)
c.348T>G (p.Gly116=)
7g.94404722T=CA1726792208COL1A2c.354T= (p.Gly118=)
c.348T= (p.Gly116=)
7g.94404723G>ACA368219582COL1A2c.355G>A (p.Glu119Lys)
c.349G>A (p.Glu117Lys)
 gnomAD v4 COSMIC
7g.94404723G>CCA368219583COL1A2c.355G>C (p.Glu119Gln)
c.349G>C (p.Glu117Gln)
7g.94404723G>TCA368219584COL1A2c.355G>T (p.Glu119Ter)
c.349G>T (p.Glu117Ter)
7g.94404724A>CCA368219585COL1A2c.356A>C (p.Glu119Ala)
c.350A>C (p.Glu117Ala)
7g.94404724A>GCA368219586COL1A2c.356A>G (p.Glu119Gly)
c.350A>G (p.Glu117Gly)
7g.94404724A>TCA368219587COL1A2c.356A>T (p.Glu119Val)
c.350A>T (p.Glu117Val)
 gnomAD v4
7g.94404725G>ACA456487135COL1A2c.357G>A (p.Glu119=)
c.351G>A (p.Glu117=)
 gnomAD v4
7g.94404725G>CCA368219588COL1A2c.357G>C (p.Glu119Asp)
c.351G>C (p.Glu117Asp)
7g.94404725G>TCA368219589COL1A2c.357G>T (p.Glu119Asp)
c.351G>T (p.Glu117Asp)
7g.94404726C>ACA368219590COL1A2c.358C>A (p.Pro120Thr)
c.352C>A (p.Pro118Thr)
7g.94404726C>GCA368219591COL1A2c.358C>G (p.Pro120Ala)
c.352C>G (p.Pro118Ala)
 gnomAD v4
7g.94404726C>TCA368219592COL1A2c.358C>T (p.Pro120Ser)
c.352C>T (p.Pro118Ser)
7g.94404727C>ACA368219595COL1A2c.359C>A (p.Pro120His)
c.353C>A (p.Pro118His)
7g.94404727C>GCA368219594COL1A2c.359C>G (p.Pro120Arg)
c.353C>G (p.Pro118Arg)
7g.94404727C>TCA368219593COL1A2c.359C>T (p.Pro120Leu)
c.353C>T (p.Pro118Leu)
7g.94404728T>ACA456487140COL1A2c.360T>A (p.Pro120=)
c.354T>A (p.Pro118=)
7g.94404728T>CCA456487142COL1A2c.360T>C (p.Pro120=)
c.354T>C (p.Pro118=)
 gnomAD v4
7g.94404728T>GCA456487141COL1A2c.360T>G (p.Pro120=)
c.354T>G (p.Pro118=)
7g.94404729G>ACA368219596COL1A2c.361G>A (p.Gly121Ser)
c.355G>A (p.Gly119Ser)
7g.94404729G>CCA368219597COL1A2c.361G>C (p.Gly121Arg)
c.355G>C (p.Gly119Arg)
7g.94404729G>TCA368219598COL1A2c.361G>T (p.Gly121Cys)
c.355G>T (p.Gly119Cys)
7g.94404730G>ACA368219599COL1A2c.362G>A (p.Gly121Asp)
c.356G>A (p.Gly119Asp)
 ClinVar dbSNP
7g.94404730G>CCA368219600COL1A2c.362G>C (p.Gly121Ala)
c.356G>C (p.Gly119Ala)
7g.94404730G>TCA368219601COL1A2c.362G>T (p.Gly121Val)
c.356G>T (p.Gly119Val)
7g.94404731T>ACA456487145COL1A2c.363T>A (p.Gly121=)
c.357T>A (p.Gly119=)
7g.94404731T>CCA162914254COL1A2c.363T>C (p.Gly121=)
c.357T>C (p.Gly119=)
 dbSNP
7g.94404731T>GCA4346635COL1A2c.363T>G (p.Gly121=)
c.357T>G (p.Gly119=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404731T=CA1726792209COL1A2c.363T= (p.Gly121=)
c.357T= (p.Gly119=)
7g.94404732G>ACA368219602COL1A2c.364G>A (p.Glu122Lys)
c.358G>A (p.Glu120Lys)
7g.94404732G>CCA368219603COL1A2c.364G>C (p.Glu122Gln)
c.358G>C (p.Glu120Gln)
7g.94404732G>TCA368219604COL1A2c.364G>T (p.Glu122Ter)
c.358G>T (p.Glu120Ter)
7g.94404733A>CCA368219605COL1A2c.365A>C (p.Glu122Ala)
c.359A>C (p.Glu120Ala)
7g.94404733A>GCA368219606COL1A2c.365A>G (p.Glu122Gly)
c.359A>G (p.Glu120Gly)
7g.94404733A>TCA368219607COL1A2c.365A>T (p.Glu122Val)
c.359A>T (p.Glu120Val)
7g.94404734A>CCA368219608COL1A2c.366A>C (p.Glu122Asp)
c.360A>C (p.Glu120Asp)
7g.94404734A>GCA456487147COL1A2c.366A>G (p.Glu122=)
c.360A>G (p.Glu120=)
7g.94404734A>TCA368219609COL1A2c.366A>T (p.Glu122Asp)
c.360A>T (p.Glu120Asp)
 gnomAD v4
7g.94404735C>ACA368219610COL1A2c.367C>A (p.Pro123Thr)
c.361C>A (p.Pro121Thr)
 ClinVar dbSNP gnomAD v4
7g.94404735C=CA1726792210COL1A2c.367C= (p.Pro123=)
c.361C= (p.Pro121=)
7g.94404735C>GCA368219611COL1A2c.367C>G (p.Pro123Ala)
c.361C>G (p.Pro121Ala)
7g.94404735C>TCA162914283COL1A2c.367C>T (p.Pro123Ser)
c.361C>T (p.Pro121Ser)
 dbSNP gnomAD v4
7g.94404736C>ACA368219612COL1A2c.368C>A (p.Pro123His)
c.362C>A (p.Pro121His)
 ClinVar dbSNP gnomAD v4
7g.94404736C=CA1726792211COL1A2c.368C= (p.Pro123=)
c.362C= (p.Pro121=)
7g.94404736C>GCA368219613COL1A2c.368C>G (p.Pro123Arg)
c.362C>G (p.Pro121Arg)
7g.94404736C>TCA368219614COL1A2c.368C>T (p.Pro123Leu)
c.362C>T (p.Pro121Leu)
 gnomAD v4
7g.94404737T>ACA456487151COL1A2c.369T>A (p.Pro123=)
c.363T>A (p.Pro121=)
7g.94404737T>CCA456487153COL1A2c.369T>C (p.Pro123=)
c.363T>C (p.Pro121=)
 gnomAD v4
7g.94404737T>GCA456487154COL1A2c.369T>G (p.Pro123=)
c.363T>G (p.Pro121=)
7g.94404738G>ACA368219615COL1A2c.370G>A (p.Gly124Ser)
c.364G>A (p.Gly122Ser)
7g.94404738G>CCA368219616COL1A2c.370G>C (p.Gly124Arg)
c.364G>C (p.Gly122Arg)
7g.94404738G>TCA368219617COL1A2c.370G>T (p.Gly124Cys)
c.364G>T (p.Gly122Cys)
7g.94404739G>ACA162914284COL1A2c.371G>A (p.Gly124Asp)
c.365G>A (p.Gly122Asp)
 ClinVar dbSNP
7g.94404739G>CCA368219618COL1A2c.371G>C (p.Gly124Ala)
c.365G>C (p.Gly122Ala)
7g.94404739G=CA1726792212COL1A2c.371G= (p.Gly124=)
c.365G= (p.Gly122=)
7g.94404739G>TCA368219619COL1A2c.371G>T (p.Gly124Val)
c.365G>T (p.Gly122Val)
7g.94404740T>ACA456487162COL1A2c.372T>A (p.Gly124=)
c.366T>A (p.Gly122=)
7g.94404740T>CCA4346637COL1A2c.372T>C (p.Gly124=)
c.366T>C (p.Gly122=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404740T>GCA4346636COL1A2c.372T>G (p.Gly124=)
c.366T>G (p.Gly122=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404740T=CA1726792213COL1A2c.372T= (p.Gly124=)
c.366T= (p.Gly122=)
7g.94404741C>ACA368219620COL1A2c.373C>A (p.Gln125Lys)
c.367C>A (p.Gln123Lys)
7g.94404741C>GCA368219622COL1A2c.373C>G (p.Gln125Glu)
c.367C>G (p.Gln123Glu)
7g.94404741C>TCA368219621COL1A2c.373C>T (p.Gln125Ter)
c.367C>T (p.Gln123Ter)
7g.94404742A>CCA368219623COL1A2c.374A>C (p.Gln125Pro)
c.368A>C (p.Gln123Pro)
7g.94404742A>GCA368219624COL1A2c.374A>G (p.Gln125Arg)
c.368A>G (p.Gln123Arg)
7g.94404742A>TCA368219625COL1A2c.374A>T (p.Gln125Leu)
c.368A>T (p.Gln123Leu)
7g.94404743A=CA1726792214COL1A2c.375A= (p.Gln125=)
c.369A= (p.Gln123=)
7g.94404743A>CCA368219626COL1A2c.375A>C (p.Gln125His)
c.369A>C (p.Gln123His)
7g.94404743A>GCA4346638COL1A2c.375A>G (p.Gln125=)
c.369A>G (p.Gln123=)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.94404743A>TCA368219627COL1A2c.375A>T (p.Gln125His)
c.369A>T (p.Gln123His)
7g.94404744A>CCA368219628COL1A2c.376A>C (p.Thr126Pro)
c.370A>C (p.Thr124Pro)
7g.94404744A>GCA368219629COL1A2c.376A>G (p.Thr126Ala)
c.370A>G (p.Thr124Ala)
7g.94404744A>TCA368219630COL1A2c.376A>T (p.Thr126Ser)
c.370A>T (p.Thr124Ser)
7g.94404745C>ACA368219631COL1A2c.377C>A (p.Thr126Asn)
c.371C>A (p.Thr124Asn)
7g.94404745C=CA1726792215COL1A2c.377C= (p.Thr126=)
c.371C= (p.Thr124=)
7g.94404745C>GCA368219632COL1A2c.377C>G (p.Thr126Ser)
c.371C>G (p.Thr124Ser)
7g.94404745C>TCA368219633COL1A2c.377C>T (p.Thr126Ile)
c.371C>T (p.Thr124Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.94404746T>ACA456487173COL1A2c.378T>A (p.Thr126=)
c.372T>A (p.Thr124=)
 gnomAD v4
7g.94404746T>CCA456487174COL1A2c.378T>C (p.Thr126=)
c.372T>C (p.Thr124=)
 gnomAD v4
7g.94404746T>GCA456487175COL1A2c.378T>G (p.Thr126=)
c.372T>G (p.Thr124=)
7g.94404747G>ACA368219636COL1A2c.378+1G>A (n.378+1G>A)
c.372+1G>A (n.372+1G>A)
7g.94404747G>CCA368219634COL1A2c.378+1G>C (n.378+1G>C)
c.372+1G>C (n.372+1G>C)
7g.94404747G>TCA368219635COL1A2c.378+1G>T (n.378+1G>T)
c.372+1G>T (n.372+1G>T)
7g.94404748_94404839delCA2776991007COL1A2c.378+2_379del
c.372+2_373del
7g.94404748T>ACA368219637COL1A2c.378+2T>A (n.378+2T>A)
c.372+2T>A (n.372+2T>A)
7g.94404748T>CCA368219638COL1A2c.378+2T>C (n.378+2T>C)
c.372+2T>C (n.372+2T>C)
7g.94404748T>GCA368219639COL1A2c.378+2T>G (n.378+2T>G)
c.372+2T>G (n.372+2T>G)
7g.94404750A=CA1726792216COL1A2c.378+4A= (n.378+4A=)
c.372+4A= (n.372+4A=)
7g.94404750A>GCA1726792217COL1A2c.378+4A>G (n.378+4A>G)
c.372+4A>G (n.372+4A>G)
 dbSNP
7g.94404751G>CCA2517441028COL1A2c.378+5G>C (n.378+5G>C)
c.372+5G>C (n.372+5G>C)
7g.94404752T>CCA4346639COL1A2c.378+6T>C (n.378+6T>C)
c.372+6T>C (n.372+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404752T=CA1726792218COL1A2c.378+6T= (n.378+6T=)
c.372+6T= (n.372+6T=)
7g.94404754C>TCA2578941493COL1A2c.378+8C>T (n.378+8C>T)
c.372+8C>T (n.372+8C>T)
7g.94404755A>TCA2683767105COL1A2c.378+9A>T (n.378+9A>T)
c.372+9A>T (n.372+9A>T)
 gnomAD v4
7g.94404756T>CCA843998680COL1A2c.378+10T>C (n.378+10T>C)
c.372+10T>C (n.372+10T>C)
 dbSNP
7g.94404756T=CA1726792219COL1A2c.378+10T= (n.378+10T=)
c.372+10T= (n.372+10T=)
7g.94404757T>GCA2715125180COL1A2c.378+11T>G (n.378+11T>G)
c.372+11T>G (n.372+11T>G)
 dbSNP
7g.94404759T>CCA2558972147COL1A2c.378+13T>C (n.378+13T>C)
c.372+13T>C (n.372+13T>C)
 gnomAD v4
7g.94404760T>CCA576321554COL1A2c.378+14T>C (n.378+14T>C)
c.372+14T>C (n.372+14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94404760T=CA1726792220COL1A2c.378+14T= (n.378+14T=)
c.372+14T= (n.372+14T=)
7g.94404762C>ACA843998685COL1A2c.378+16C>A (n.378+16C>A)
c.372+16C>A (n.372+16C>A)
 dbSNP
7g.94404762C=CA1726792221COL1A2c.378+16C= (n.378+16C=)
c.372+16C= (n.372+16C=)
7g.94404763A=CA1726792222COL1A2c.378+17A= (n.378+17A=)
c.372+17A= (n.372+17A=)
7g.94404763A>TCA1104605214COL1A2c.378+17A>T (n.378+17A>T)
c.372+17A>T (n.372+17A>T)
 dbSNP gnomAD v3 gnomAD v4
7g.94404764C=CA1726792224COL1A2c.378+18C= (n.378+18C=)
c.372+18C= (n.372+18C=)
7g.94404764C>TCA1726792223COL1A2c.378+18C>T (n.378+18C>T)
c.372+18C>T (n.372+18C>T)
 dbSNP
7g.94404765C=CA1726792225COL1A2c.378+19C= (n.378+19C=)
c.372+19C= (n.372+19C=)
7g.94404765C>GCA1726792226COL1A2c.378+19C>G (n.378+19C>G)
c.372+19C>G (n.372+19C>G)
 dbSNP
7g.94404766T>ACA2683767106COL1A2c.378+20T>A (n.378+20T>A)
c.372+20T>A (n.372+20T>A)
 gnomAD v4
7g.94404770T>CCA4346641COL1A2c.378+24T>C (n.378+24T>C)
c.372+24T>C (n.372+24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404770T=CA1726792227COL1A2c.378+24T= (n.378+24T=)
c.372+24T= (n.372+24T=)
7g.94404770_94404771insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTCA4346640COL1A2c.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT (n.378+24_378+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT)
c.372+24_372+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT (n.372+24_372+25insCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTT)
 ExAC
7g.94404772A=CA1726792228COL1A2c.378+26A= (n.378+26A=)
c.372+26A= (n.372+26A=)
7g.94404772A>GCA4346642COL1A2c.378+26A>G (n.378+26A>G)
c.372+26A>G (n.372+26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404773T>CCA576321555COL1A2c.378+27T>C (n.378+27T>C)
c.372+27T>C (n.372+27T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.94404773T=CA1726792229COL1A2c.378+27T= (n.378+27T=)
c.372+27T= (n.372+27T=)
7g.94404773_94404775delinsTAACA1726792230COL1A2c.378+27_378+29delinsTAA (n.378+27_378+29delinsTAA)
c.372+27_372+29delinsTAA (n.372+27_372+29delinsTAA)
7g.94404774_94404775delCA4346643COL1A2c.378+28_378+29del (n.378+28_378+29del)
c.372+28_372+29del (n.372+28_372+29del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94404775A>GCA651752735COL1A2c.378+29A>G (n.378+29A>G)
c.372+29A>G (n.372+29A>G)
 COSMIC
7g.94404776G=CA1726792231COL1A2c.378+30G= (n.378+30G=)
c.372+30G= (n.372+30G=)
7g.94404777T>ACA4346645COL1A2c.378+31T>A (n.378+31T>A)
c.372+31T>A (n.372+31T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404777T>GCA4346644COL1A2c.378+31T>G (n.378+31T>G)
c.372+31T>G (n.372+31T>G)
 dbSNP ExAC
7g.94404777T=CA1726792232COL1A2c.378+31T= (n.378+31T=)
c.372+31T= (n.372+31T=)
7g.94404783dupCA576321556COL1A2c.378+37dup (n.378+37dup)
c.372+37dup (n.372+37dup)
 dbSNP gnomAD v2 gnomAD v4
7g.94404783delCA2683767107COL1A2c.378+37del (n.378+37del)
c.372+37del (n.372+37del)
 gnomAD v4
7g.94404778T>ACA4346646COL1A2c.378+32T>A (n.378+32T>A)
c.372+32T>A (n.372+32T>A)
 dbSNP ExAC
7g.94404778T=CA1726792233COL1A2c.378+32T= (n.378+32T=)
c.372+32T= (n.372+32T=)
7g.94404780T>ACA4346647COL1A2c.378+34T>A (n.378+34T>A)
c.372+34T>A (n.372+34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404780T=CA1726792234COL1A2c.378+34T= (n.378+34T=)
c.372+34T= (n.372+34T=)
7g.94404782T>CCA2578941494COL1A2c.378+36T>C (n.378+36T>C)
c.372+36T>C (n.372+36T>C)
7g.94404783T>CCA2578941495COL1A2c.378+37T>C (n.378+37T>C)
c.372+37T>C (n.372+37T>C)
7g.94404784C=CA1726792235COL1A2c.378+38C= (n.378+38C=)
c.372+38C= (n.372+38C=)
7g.94404784C>TCA4346648COL1A2c.378+38C>T (n.378+38C>T)
c.372+38C>T (n.372+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404786A=CA1726792236COL1A2c.378+40A= (n.378+40A=)
c.372+40A= (n.372+40A=)
7g.94404786A>GCA1104605220COL1A2c.378+40A>G (n.378+40A>G)
c.372+40A>G (n.372+40A>G)
 dbSNP gnomAD v3 gnomAD v4
7g.94404787G>ACA2544245272COL1A2c.378+41G>A (n.378+41G>A)
c.372+41G>A (n.372+41G>A)
7g.94404788G>ACA4346649COL1A2c.378+42G>A (n.378+42G>A)
c.372+42G>A (n.372+42G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94404788G=CA1726792237COL1A2c.378+42G= (n.378+42G=)
c.372+42G= (n.372+42G=)
7g.94404788G>TCA2578941496COL1A2c.378+42G>T (n.378+42G>T)
c.372+42G>T (n.372+42G>T)
 gnomAD v4

Number of alleles fetched