Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.94408720delCA2683768025COL1A2c.739-50del (n.739-50del)
c.733-50del (n.733-50del)
 gnomAD v4
7g.94408721C=CA1726749281COL1A2c.739-49C= (n.739-49C=)
c.733-49C= (n.733-49C=)
7g.94408721C>TCA576321745COL1A2c.739-49C>T (n.739-49C>T)
c.733-49C>T (n.733-49C>T)
 dbSNP gnomAD v2 gnomAD v4
7g.94408724A=CA1726749286COL1A2c.739-46A= (n.739-46A=)
c.733-46A= (n.733-46A=)
7g.94408724A>TCA4346807COL1A2c.739-46A>T (n.739-46A>T)
c.733-46A>T (n.733-46A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94408726T>CCA576321746COL1A2c.739-44T>C (n.739-44T>C)
c.733-44T>C (n.733-44T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94408726T=CA1726749288COL1A2c.739-44T= (n.739-44T=)
c.733-44T= (n.733-44T=)
7g.94408727T>CCA2683768026COL1A2c.739-43T>C (n.739-43T>C)
c.733-43T>C (n.733-43T>C)
 gnomAD v4
7g.94408728T>GCA4346808COL1A2c.739-42T>G (n.739-42T>G)
c.733-42T>G (n.733-42T>G)
 dbSNP ExAC gnomAD v2
7g.94408728T=CA1726749291COL1A2c.739-42T= (n.739-42T=)
c.733-42T= (n.733-42T=)
7g.94408730C>ACA2683768027COL1A2c.739-40C>A (n.739-40C>A)
c.733-40C>A (n.733-40C>A)
 gnomAD v4
7g.94408733G>ACA2683768028COL1A2c.739-37G>A (n.739-37G>A)
c.733-37G>A (n.733-37G>A)
 gnomAD v4
7g.94408734G>ACA4346809COL1A2c.739-36G>A (n.739-36G>A)
c.733-36G>A (n.733-36G>A)
 dbSNP ExAC gnomAD v4
7g.94408734G>CCA2683768029COL1A2c.739-36G>C (n.739-36G>C)
c.733-36G>C (n.733-36G>C)
 gnomAD v4
7g.94408734G=CA1726749296COL1A2c.739-36G= (n.739-36G=)
c.733-36G= (n.733-36G=)
7g.94408735A>GCA2683768030COL1A2c.739-35A>G (n.739-35A>G)
c.733-35A>G (n.733-35A>G)
 gnomAD v4
7g.94408736G>ACA576321748COL1A2c.739-34G>A (n.739-34G>A)
c.733-34G>A (n.733-34G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.94408736G=CA1726749300COL1A2c.739-34G= (n.739-34G=)
c.733-34G= (n.733-34G=)
7g.94408736G>TCA576321747COL1A2c.739-34G>T (n.739-34G>T)
c.733-34G>T (n.733-34G>T)
 dbSNP gnomAD v2 gnomAD v4
7g.94408737G>ACA2683768031COL1A2c.739-33G>A (n.739-33G>A)
c.733-33G>A (n.733-33G>A)
 gnomAD v4
7g.94408740delCA2683768032COL1A2c.739-30del (n.739-30del)
c.733-30del (n.733-30del)
 gnomAD v4
7g.94408740A=CA1726749303COL1A2c.739-30A= (n.739-30A=)
c.733-30A= (n.733-30A=)
7g.94408740A>GCA844001443COL1A2c.739-30A>G (n.739-30A>G)
c.733-30A>G (n.733-30A>G)
 dbSNP gnomAD v4
7g.94408741T>ACA2683768033COL1A2c.739-29T>A (n.739-29T>A)
c.733-29T>A (n.733-29T>A)
 gnomAD v4
7g.94408741T>CCA1726749310COL1A2c.739-29T>C (n.739-29T>C)
c.733-29T>C (n.733-29T>C)
 dbSNP
7g.94408741T=CA1726749309COL1A2c.739-29T= (n.739-29T=)
c.733-29T= (n.733-29T=)
7g.94408743T>CCA651752907COL1A2c.739-27T>C (n.739-27T>C)
c.733-27T>C (n.733-27T>C)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.94408743T=CA1726749312COL1A2c.739-27T= (n.739-27T=)
c.733-27T= (n.733-27T=)
7g.94408748C>ACA844001449COL1A2c.739-22C>A (n.739-22C>A)
c.733-22C>A (n.733-22C>A)
 dbSNP gnomAD v4
7g.94408748C=CA1726749317COL1A2c.739-22C= (n.739-22C=)
c.733-22C= (n.733-22C=)
7g.94408750A>TCA2683768034COL1A2c.739-20A>T (n.739-20A>T)
c.733-20A>T (n.733-20A>T)
 gnomAD v4
7g.94408751C=CA1726749320COL1A2c.739-19C= (n.739-19C=)
c.733-19C= (n.733-19C=)
7g.94408751C>TCA844001456COL1A2c.739-19C>T (n.739-19C>T)
c.733-19C>T (n.733-19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94408752C=CA1726749333COL1A2c.739-18C= (n.739-18C=)
c.733-18C= (n.733-18C=)
7g.94408752C>TCA162918890COL1A2c.739-18C>T (n.739-18C>T)
c.733-18C>T (n.733-18C>T)
 dbSNP gnomAD v4
7g.94408753T>CCA2683768035COL1A2c.739-17T>C (n.739-17T>C)
c.733-17T>C (n.733-17T>C)
 gnomAD v4
7g.94408757G>TCA2683768036COL1A2c.739-13G>T (n.739-13G>T)
c.733-13G>T (n.733-13G>T)
 gnomAD v4
7g.94408761T>GCA2683768037COL1A2c.739-9T>G (n.739-9T>G)
c.733-9T>G (n.733-9T>G)
 gnomAD v4
7g.94408762G>CCA162918891COL1A2c.739-8G>C (n.739-8G>C)
c.733-8G>C (n.733-8G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94408762G=CA1726749339COL1A2c.739-8G= (n.739-8G=)
c.733-8G= (n.733-8G=)
7g.94408762G>TCA2683768038COL1A2c.739-8G>T (n.739-8G>T)
c.733-8G>T (n.733-8G>T)
 gnomAD v4
7g.94408763A>GCA2683768039COL1A2c.739-7A>G (n.739-7A>G)
c.733-7A>G (n.733-7A>G)
 gnomAD v4
7g.94408766T>GCA4346810COL1A2c.739-4T>G (n.739-4T>G)
c.733-4T>G (n.733-4T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94408766T=CA1726749344COL1A2c.739-4T= (n.739-4T=)
c.733-4T= (n.733-4T=)
7g.94408767C=CA1726749350COL1A2c.739-3C= (n.739-3C=)
c.733-3C= (n.733-3C=)
7g.94408767C>TCA576321749COL1A2c.739-3C>T (n.739-3C>T)
c.733-3C>T (n.733-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94408768A=CA1726749358COL1A2c.739-2A= (n.739-2A=)
c.733-2A= (n.733-2A=)
7g.94408768A>CCA368220425COL1A2c.739-2A>C (n.739-2A>C)
c.733-2A>C (n.733-2A>C)
7g.94408768A>GCA162918911COL1A2c.739-2A>G (n.739-2A>G)
c.733-2A>G (n.733-2A>G)
 dbSNP
7g.94408768A>TCA368220426COL1A2c.739-2A>T (n.739-2A>T)
c.733-2A>T (n.733-2A>T)
 ClinVar dbSNP
7g.94408769G>ACA368220428COL1A2c.739-1G>A (n.739-1G>A)
c.733-1G>A (n.733-1G>A)
7g.94408769G>CCA162918913COL1A2c.739-1G>C (n.739-1G>C)
c.733-1G>C (n.733-1G>C)
 dbSNP
7g.94408769G=CA1726749367COL1A2c.739-1G= (n.739-1G=)
c.733-1G= (n.733-1G=)
7g.94408769G>TCA368220427COL1A2c.739-1G>T (n.739-1G>T)
c.733-1G>T (n.733-1G>T)
7g.94408770G>ACA368220429COL1A2c.739G>A (p.Gly247Ser)
c.733G>A (p.Gly245Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.94408770G>CCA368220430COL1A2c.739G>C (p.Gly247Arg)
c.733G>C (p.Gly245Arg)
 ClinVar gnomAD v4
7g.94408770G=CA1726749378COL1A2c.739G= (p.Gly247=)
c.733G= (p.Gly245=)
7g.94408770G>TCA16618573COL1A2c.739G>T (p.Gly247Cys)
c.733G>T (p.Gly245Cys)
 ClinVar dbSNP
7g.94408771G>ACA162918918COL1A2c.740G>A (p.Gly247Asp)
c.734G>A (p.Gly245Asp)
 dbSNP
7g.94408771G>CCA368220431COL1A2c.740G>C (p.Gly247Ala)
c.734G>C (p.Gly245Ala)
7g.94408771G=CA1726749390COL1A2c.740G= (p.Gly247=)
c.734G= (p.Gly245=)
7g.94408771G>TCA368220432COL1A2c.740G>T (p.Gly247Val)
c.734G>T (p.Gly245Val)
7g.94408772T>ACA456488198COL1A2c.741T>A (p.Gly247=)
c.735T>A (p.Gly245=)
7g.94408772T>CCA456488197COL1A2c.741T>C (p.Gly247=)
c.735T>C (p.Gly245=)
 ClinVar dbSNP
7g.94408772T>GCA456488196COL1A2c.741T>G (p.Gly247=)
c.735T>G (p.Gly245=)
7g.94408772T=CA1726749403COL1A2c.741T= (p.Gly247=)
c.735T= (p.Gly245=)
7g.94408773C>ACA368220433COL1A2c.742C>A (p.Pro248Thr)
c.736C>A (p.Pro246Thr)
 dbSNP
7g.94408773C=CA1726749407COL1A2c.742C= (p.Pro248=)
c.736C= (p.Pro246=)
7g.94408773C>GCA368220434COL1A2c.742C>G (p.Pro248Ala)
c.736C>G (p.Pro246Ala)
7g.94408773C>TCA4346811COL1A2c.742C>T (p.Pro248Ser)
c.736C>T (p.Pro246Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94408774C>ACA368220435COL1A2c.743C>A (p.Pro248His)
c.737C>A (p.Pro246His)
7g.94408774C>GCA368220436COL1A2c.743C>G (p.Pro248Arg)
c.737C>G (p.Pro246Arg)
7g.94408774C>TCA368220437COL1A2c.743C>T (p.Pro248Leu)
c.737C>T (p.Pro246Leu)
 dbSNP gnomAD v4
7g.94408775C>ACA456488199COL1A2c.744C>A (p.Pro248=)
c.738C>A (p.Pro246=)
7g.94408775C=CA1726749411COL1A2c.744C= (p.Pro248=)
c.738C= (p.Pro246=)
7g.94408775C>GCA456488200COL1A2c.744C>G (p.Pro248=)
c.738C>G (p.Pro246=)
7g.94408775C>TCA162918940COL1A2c.744C>T (p.Pro248=)
c.738C>T (p.Pro246=)
 dbSNP COSMIC
7g.94408776A>CCA368220438COL1A2c.745A>C (p.Ile249Leu)
c.739A>C (p.Ile247Leu)
7g.94408776A>GCA368220439COL1A2c.745A>G (p.Ile249Val)
c.739A>G (p.Ile247Val)
7g.94408776A>TCA368220440COL1A2c.745A>T (p.Ile249Phe)
c.739A>T (p.Ile247Phe)
7g.94408777T>ACA162918952COL1A2c.746T>A (p.Ile249Asn)
c.740T>A (p.Ile247Asn)
 dbSNP
7g.94408777T>CCA368220441COL1A2c.746T>C (p.Ile249Thr)
c.740T>C (p.Ile247Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94408777T>GCA368220442COL1A2c.746T>G (p.Ile249Ser)
c.740T>G (p.Ile247Ser)
7g.94408777T=CA1726749415COL1A2c.746T= (p.Ile249=)
c.740T= (p.Ile247=)
7g.94408778T>ACA456488201COL1A2c.747T>A (p.Ile249=)
c.741T>A (p.Ile247=)
7g.94408778T>CCA456488202COL1A2c.747T>C (p.Ile249=)
c.741T>C (p.Ile247=)
7g.94408778T>GCA368220443COL1A2c.747T>G (p.Ile249Met)
c.741T>G (p.Ile247Met)
7g.94408779G>ACA368220446COL1A2c.748G>A (p.Gly250Arg)
c.742G>A (p.Gly248Arg)
7g.94408779G>CCA368220445COL1A2c.748G>C (p.Gly250Arg)
c.742G>C (p.Gly248Arg)
7g.94408779G>TCA368220444COL1A2c.748G>T (p.Gly250Trp)
c.742G>T (p.Gly248Trp)
7g.94408780G>ACA368220447COL1A2c.749G>A (p.Gly250Glu)
c.743G>A (p.Gly248Glu)
7g.94408780G>CCA368220449COL1A2c.749G>C (p.Gly250Ala)
c.743G>C (p.Gly248Ala)
7g.94408780G=CA1726749421COL1A2c.749G= (p.Gly250=)
c.743G= (p.Gly248=)
7g.94408780G>TCA368220448COL1A2c.749G>T (p.Gly250Val)
c.743G>T (p.Gly248Val)
 ClinVar dbSNP COSMIC
7g.94408781G>ACA456488203COL1A2c.750G>A (p.Gly250=)
c.744G>A (p.Gly248=)
7g.94408781G>CCA456488204COL1A2c.750G>C (p.Gly250=)
c.744G>C (p.Gly248=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.94408781G=CA1726749434COL1A2c.750G= (p.Gly250=)
c.744G= (p.Gly248=)
7g.94408781G>TCA4346812COL1A2c.750G>T (p.Gly250=)
c.744G>T (p.Gly248=)
 dbSNP ExAC gnomAD v2
7g.94408782T>ACA368220451COL1A2c.751T>A (p.Ser251Thr)
c.745T>A (p.Ser249Thr)
7g.94408782T>CCA368220450COL1A2c.751T>C (p.Ser251Pro)
c.745T>C (p.Ser249Pro)
7g.94408782T>GCA368220452COL1A2c.751T>G (p.Ser251Ala)
c.745T>G (p.Ser249Ala)
7g.94408783C>ACA368220453COL1A2c.752C>A (p.Ser251Tyr)
c.746C>A (p.Ser249Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.94408783C=CA1726749445COL1A2c.752C= (p.Ser251=)
c.746C= (p.Ser249=)
7g.94408783C>GCA368220454COL1A2c.752C>G (p.Ser251Cys)
c.746C>G (p.Ser249Cys)
7g.94408783C>TCA368220455COL1A2c.752C>T (p.Ser251Phe)
c.746C>T (p.Ser249Phe)
 ClinVar dbSNP
7g.94408784T>ACA456488205COL1A2c.753T>A (p.Ser251=)
c.747T>A (p.Ser249=)
 COSMIC
7g.94408784T>CCA456488206COL1A2c.753T>C (p.Ser251=)
c.747T>C (p.Ser249=)
7g.94408784T>GCA456488207COL1A2c.753T>G (p.Ser251=)
c.747T>G (p.Ser249=)
7g.94408785G>ACA368220456COL1A2c.754G>A (p.Ala252Thr)
c.748G>A (p.Ala250Thr)
7g.94408785G>CCA368220457COL1A2c.754G>C (p.Ala252Pro)
c.748G>C (p.Ala250Pro)
7g.94408785G>TCA368220458COL1A2c.754G>T (p.Ala252Ser)
c.748G>T (p.Ala250Ser)
7g.94408786C>ACA368220461COL1A2c.755C>A (p.Ala252Asp)
c.749C>A (p.Ala250Asp)
7g.94408786C>GCA368220460COL1A2c.755C>G (p.Ala252Gly)
c.749C>G (p.Ala250Gly)
7g.94408786C>TCA368220459COL1A2c.755C>T (p.Ala252Val)
c.749C>T (p.Ala250Val)
7g.94408787T>ACA456488208COL1A2c.756T>A (p.Ala252=)
c.750T>A (p.Ala250=)
7g.94408787T>CCA456488209COL1A2c.756T>C (p.Ala252=)
c.750T>C (p.Ala250=)
7g.94408787T>GCA456488210COL1A2c.756T>G (p.Ala252=)
c.750T>G (p.Ala250=)
7g.94408788G>ACA368220462COL1A2c.757G>A (p.Gly253Ser)
c.751G>A (p.Gly251Ser)
7g.94408788G>CCA368220463COL1A2c.757G>C (p.Gly253Arg)
c.751G>C (p.Gly251Arg)
 ClinVar dbSNP
7g.94408788G=CA1726749454COL1A2c.757G= (p.Gly253=)
c.751G= (p.Gly251=)
7g.94408788G>TCA368220464COL1A2c.757G>T (p.Gly253Cys)
c.751G>T (p.Gly251Cys)
7g.94408789G>ACA162918963COL1A2c.758G>A (p.Gly253Asp)
c.752G>A (p.Gly251Asp)
 dbSNP COSMIC
7g.94408789G>CCA368220465COL1A2c.758G>C (p.Gly253Ala)
c.752G>C (p.Gly251Ala)
7g.94408789G=CA1726749465COL1A2c.758G= (p.Gly253=)
c.752G= (p.Gly251=)
7g.94408789G>TCA368220466COL1A2c.758G>T (p.Gly253Val)
c.752G>T (p.Gly251Val)
 ClinVar dbSNP
7g.94408790C>ACA456488211COL1A2c.759C>A (p.Gly253=)
c.753C>A (p.Gly251=)
 gnomAD v4
7g.94408790C>GCA456488213COL1A2c.759C>G (p.Gly253=)
c.753C>G (p.Gly251=)
7g.94408790C>TCA456488212COL1A2c.759C>T (p.Gly253=)
c.753C>T (p.Gly251=)
7g.94408791C>ACA368220467COL1A2c.760C>A (p.Pro254Thr)
c.754C>A (p.Pro252Thr)
7g.94408791C=CA1726749473COL1A2c.760C= (p.Pro254=)
c.754C= (p.Pro252=)
7g.94408791C>GCA368220469COL1A2c.760C>G (p.Pro254Ala)
c.754C>G (p.Pro252Ala)
7g.94408791C>TCA368220468COL1A2c.760C>T (p.Pro254Ser)
c.754C>T (p.Pro252Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.94408792C>ACA368220470COL1A2c.761C>A (p.Pro254His)
c.755C>A (p.Pro252His)
7g.94408792C>GCA368220471COL1A2c.761C>G (p.Pro254Arg)
c.755C>G (p.Pro252Arg)
7g.94408792C>TCA368220472COL1A2c.761C>T (p.Pro254Leu)
c.755C>T (p.Pro252Leu)
7g.94408793T>ACA456488214COL1A2c.762T>A (p.Pro254=)
c.756T>A (p.Pro252=)
 ClinVar
7g.94408793T>CCA456488215COL1A2c.762T>C (p.Pro254=)
c.756T>C (p.Pro252=)
 COSMIC
7g.94408793T>GCA456488216COL1A2c.762T>G (p.Pro254=)
c.756T>G (p.Pro252=)
7g.94408794C>ACA368220473COL1A2c.763C>A (p.Pro255Thr)
c.757C>A (p.Pro253Thr)
7g.94408794C>GCA368220474COL1A2c.763C>G (p.Pro255Ala)
c.757C>G (p.Pro253Ala)
 COSMIC
7g.94408794C>TCA368220475COL1A2c.763C>T (p.Pro255Ser)
c.757C>T (p.Pro253Ser)
 COSMIC
7g.94408795C>ACA368220476COL1A2c.764C>A (p.Pro255Gln)
c.758C>A (p.Pro253Gln)
7g.94408795C>GCA368220477COL1A2c.764C>G (p.Pro255Arg)
c.758C>G (p.Pro253Arg)
7g.94408795C>TCA368220478COL1A2c.764C>T (p.Pro255Leu)
c.758C>T (p.Pro253Leu)
7g.94408796A>CCA456488217COL1A2c.765A>C (p.Pro255=)
c.759A>C (p.Pro253=)
7g.94408796A>GCA456488219COL1A2c.765A>G (p.Pro255=)
c.759A>G (p.Pro253=)
7g.94408796A>TCA456488218COL1A2c.765A>T (p.Pro255=)
c.759A>T (p.Pro253=)
7g.94408797G>ACA368220479COL1A2c.766G>A (p.Gly256Ser)
c.760G>A (p.Gly254Ser)
 gnomAD v4
7g.94408797G>CCA368220480COL1A2c.766G>C (p.Gly256Arg)
c.760G>C (p.Gly254Arg)
7g.94408797G>TCA368220481COL1A2c.766G>T (p.Gly256Cys)
c.760G>T (p.Gly254Cys)
7g.94408798G>ACA162918974COL1A2c.767G>A (p.Gly256Asp)
c.761G>A (p.Gly254Asp)
 ClinVar dbSNP gnomAD v4
7g.94408798G>CCA368220482COL1A2c.767G>C (p.Gly256Ala)
c.761G>C (p.Gly254Ala)
7g.94408798G=CA1726749484COL1A2c.767G= (p.Gly256=)
c.761G= (p.Gly254=)
7g.94408798G>TCA162918982COL1A2c.767G>T (p.Gly256Val)
c.761G>T (p.Gly254Val)
 ClinVar dbSNP
7g.94408799C>ACA4346813COL1A2c.768C>A (p.Gly256=)
c.762C>A (p.Gly254=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94408799C=CA1726749496COL1A2c.768C= (p.Gly256=)
c.762C= (p.Gly254=)
7g.94408799C>GCA456488220COL1A2c.768C>G (p.Gly256=)
c.762C>G (p.Gly254=)
7g.94408799C>TCA162918983COL1A2c.768C>T (p.Gly256=)
c.762C>T (p.Gly254=)
 dbSNP
7g.94408800T>ACA368220483COL1A2c.769T>A (p.Phe257Ile)
c.763T>A (p.Phe255Ile)
7g.94408800T>CCA368220484COL1A2c.769T>C (p.Phe257Leu)
c.763T>C (p.Phe255Leu)
 gnomAD v4
7g.94408800T>GCA368220485COL1A2c.769T>G (p.Phe257Val)
c.763T>G (p.Phe255Val)
7g.94408801T>ACA368220486COL1A2c.770T>A (p.Phe257Tyr)
c.764T>A (p.Phe255Tyr)
7g.94408801T>CCA368220487COL1A2c.770T>C (p.Phe257Ser)
c.764T>C (p.Phe255Ser)
7g.94408801T>GCA368220488COL1A2c.770T>G (p.Phe257Cys)
c.764T>G (p.Phe255Cys)
7g.94408802C>ACA368220489COL1A2c.771C>A (p.Phe257Leu)
c.765C>A (p.Phe255Leu)
 gnomAD v4
7g.94408802C>GCA368220490COL1A2c.771C>G (p.Phe257Leu)
c.765C>G (p.Phe255Leu)
7g.94408802C>TCA456488221COL1A2c.771C>T (p.Phe257=)
c.765C>T (p.Phe255=)
7g.94408803C>ACA368220491COL1A2c.772C>A (p.Pro258Thr)
c.766C>A (p.Pro256Thr)
7g.94408803C>GCA368220492COL1A2c.772C>G (p.Pro258Ala)
c.766C>G (p.Pro256Ala)
7g.94408803C>TCA368220493COL1A2c.772C>T (p.Pro258Ser)
c.766C>T (p.Pro256Ser)
7g.94408804C>ACA368220496COL1A2c.773C>A (p.Pro258Gln)
c.767C>A (p.Pro256Gln)
7g.94408804C>GCA368220494COL1A2c.773C>G (p.Pro258Arg)
c.767C>G (p.Pro256Arg)
7g.94408804C>TCA368220495COL1A2c.773C>T (p.Pro258Leu)
c.767C>T (p.Pro256Leu)
7g.94408805A=CA1726749505COL1A2c.774A= (p.Pro258=)
c.768A= (p.Pro256=)
7g.94408805A>CCA456488223COL1A2c.774A>C (p.Pro258=)
c.768A>C (p.Pro256=)
7g.94408805A>GCA162918984COL1A2c.774A>G (p.Pro258=)
c.768A>G (p.Pro256=)
 dbSNP
7g.94408805A>TCA456488222COL1A2c.774A>T (p.Pro258=)
c.768A>T (p.Pro256=)
7g.94408806G>ACA368220497COL1A2c.775G>A (p.Gly259Ser)
c.769G>A (p.Gly257Ser)
7g.94408806G>CCA368220498COL1A2c.775G>C (p.Gly259Arg)
c.769G>C (p.Gly257Arg)
7g.94408806G=CA1726749512COL1A2c.775G= (p.Gly259=)
c.769G= (p.Gly257=)
7g.94408806G>TCA257765COL1A2c.775G>T (p.Gly259Cys)
c.769G>T (p.Gly257Cys)
 ClinVar dbSNP
7g.94408807G>ACA368220499COL1A2c.776G>A (p.Gly259Asp)
c.770G>A (p.Gly257Asp)
 ClinVar dbSNP gnomAD v4
7g.94408807G>CCA368220500COL1A2c.776G>C (p.Gly259Ala)
c.770G>C (p.Gly257Ala)
 ClinVar dbSNP
7g.94408807G=CA1726749519COL1A2c.776G= (p.Gly259=)
c.770G= (p.Gly257=)
7g.94408807G>TCA368220501COL1A2c.776G>T (p.Gly259Val)
c.770G>T (p.Gly257Val)
 ClinVar dbSNP
7g.94408808T>ACA456488224COL1A2c.777T>A (p.Gly259=)
c.771T>A (p.Gly257=)
7g.94408808T>CCA456488225COL1A2c.777T>C (p.Gly259=)
c.771T>C (p.Gly257=)
7g.94408808T>GCA456488226COL1A2c.777T>G (p.Gly259=)
c.771T>G (p.Gly257=)
7g.94408809G>ACA368220502COL1A2c.778G>A (p.Ala260Thr)
c.772G>A (p.Ala258Thr)
 ClinVar gnomAD v4 COSMIC
7g.94408809G>CCA368220503COL1A2c.778G>C (p.Ala260Pro)
c.772G>C (p.Ala258Pro)
7g.94408809G>TCA368220504COL1A2c.778G>T (p.Ala260Ser)
c.772G>T (p.Ala258Ser)
7g.94408810C>ACA368220505COL1A2c.779C>A (p.Ala260Asp)
c.773C>A (p.Ala258Asp)
 dbSNP gnomAD v4
7g.94408810C=CA1726749530COL1A2c.779C= (p.Ala260=)
c.773C= (p.Ala258=)
7g.94408810C>GCA368220506COL1A2c.779C>G (p.Ala260Gly)
c.773C>G (p.Ala258Gly)
7g.94408810C>TCA368220507COL1A2c.779C>T (p.Ala260Val)
c.773C>T (p.Ala258Val)
 ClinVar dbSNP
7g.94408811C>ACA456488228COL1A2c.780C>A (p.Ala260=)
c.774C>A (p.Ala258=)
7g.94408811C>GCA456488227COL1A2c.780C>G (p.Ala260=)
c.774C>G (p.Ala258=)
7g.94408811C>TCA456488229COL1A2c.780C>T (p.Ala260=)
c.774C>T (p.Ala258=)
 gnomAD v4
7g.94408812C>ACA4346814COL1A2c.781C>A (p.Pro261Thr)
c.775C>A (p.Pro259Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94408812C=CA1726749549COL1A2c.781C= (p.Pro261=)
c.775C= (p.Pro259=)
7g.94408812C>GCA368220508COL1A2c.781C>G (p.Pro261Ala)
c.775C>G (p.Pro259Ala)
 ClinVar dbSNP
7g.94408812C>TCA4346815COL1A2c.781C>T (p.Pro261Ser)
c.775C>T (p.Pro259Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94408813C>ACA368220509COL1A2c.782C>A (p.Pro261His)
c.776C>A (p.Pro259His)
7g.94408813C>GCA368220511COL1A2c.782C>G (p.Pro261Arg)
c.776C>G (p.Pro259Arg)
7g.94408813C>TCA368220510COL1A2c.782C>T (p.Pro261Leu)
c.776C>T (p.Pro259Leu)
 gnomAD v4
7g.94408814delCA2683768040COL1A2c.783del (p.Gly262AlafsTer?)
c.777del (p.Gly260AlafsTer?)
 gnomAD v4
7g.94408814T>ACA456488230COL1A2c.783T>A (p.Pro261=)
c.777T>A (p.Pro259=)
7g.94408814T>CCA4346816COL1A2c.783T>C (p.Pro261=)
c.777T>C (p.Pro259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.94408814T>GCA456488231COL1A2c.783T>G (p.Pro261=)
c.777T>G (p.Pro259=)
7g.94408814T=CA1726749562COL1A2c.783T= (p.Pro261=)
c.777T= (p.Pro259=)
7g.94408815G>ACA368220512COL1A2c.784G>A (p.Gly262Ser)
c.778G>A (p.Gly260Ser)
7g.94408815G>CCA368220513COL1A2c.784G>C (p.Gly262Arg)
c.778G>C (p.Gly260Arg)
 ClinVar dbSNP
7g.94408815G=CA1726749570COL1A2c.784G= (p.Gly262=)
c.778G= (p.Gly260=)
7g.94408815G>TCA368220514COL1A2c.784G>T (p.Gly262Cys)
c.778G>T (p.Gly260Cys)
7g.94408816G>ACA368220515COL1A2c.785G>A (p.Gly262Asp)
c.779G>A (p.Gly260Asp)
 ClinVar dbSNP
7g.94408816G>CCA368220516COL1A2c.785G>C (p.Gly262Ala)
c.779G>C (p.Gly260Ala)
7g.94408816G=CA1726749587COL1A2c.785G= (p.Gly262=)
c.779G= (p.Gly260=)
7g.94408816G>TCA368220517COL1A2c.785G>T (p.Gly262Val)
c.779G>T (p.Gly260Val)
7g.94408817C>ACA456488232COL1A2c.786C>A (p.Gly262=)
c.780C>A (p.Gly260=)
 gnomAD v4
7g.94408817C=CA1726749595COL1A2c.786C= (p.Gly262=)
c.780C= (p.Gly260=)
7g.94408817C>GCA456488233COL1A2c.786C>G (p.Gly262=)
c.780C>G (p.Gly260=)
7g.94408817C>TCA162919025COL1A2c.786C>T (p.Gly262=)
c.780C>T (p.Gly260=)
 ClinVar dbSNP gnomAD v4
7g.94408818C>ACA368220518COL1A2c.787C>A (p.Pro263Thr)
c.781C>A (p.Pro261Thr)
7g.94408818C=CA1726749599COL1A2c.787C= (p.Pro263=)
c.781C= (p.Pro261=)
7g.94408818C>GCA368220519COL1A2c.787C>G (p.Pro263Ala)
c.781C>G (p.Pro261Ala)
 dbSNP
7g.94408818C>TCA368220520COL1A2c.787C>T (p.Pro263Ser)
c.781C>T (p.Pro261Ser)
7g.94408819C>ACA368220522COL1A2c.788C>A (p.Pro263His)
c.782C>A (p.Pro261His)
7g.94408819C=CA1726749602COL1A2c.788C= (p.Pro263=)
c.782C= (p.Pro261=)
7g.94408819C>GCA4346817COL1A2c.788C>G (p.Pro263Arg)
c.782C>G (p.Pro261Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.94408819C>TCA368220521COL1A2c.788C>T (p.Pro263Leu)
c.782C>T (p.Pro261Leu)
 gnomAD v4
7g.94408820C>ACA456488234COL1A2c.789C>A (p.Pro263=)
c.783C>A (p.Pro261=)
7g.94408820C>GCA456488235COL1A2c.789C>G (p.Pro263=)
c.783C>G (p.Pro261=)
7g.94408820C>TCA456488236COL1A2c.789C>T (p.Pro263=)
c.783C>T (p.Pro261=)
 COSMIC

Number of alleles fetched