Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996436_189001956delCA916081383COL3A1c.1602_2293-342del
c.1701_2392-342del
 ClinVar
2g.188999894_189002903delCA2740096382COL3A1c.2183_2347-52del
c.2282_2446-52del
 ClinVar
2g.188999894_189002899delCA2740096383COL3A1c.2183_2347-56del
c.2282_2446-56del
 ClinVar
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001364T>CCA2662309359COL3A1c.2185-33T>C (n.2185-33T>C)
c.2284-33T>C (n.2284-33T>C)
 gnomAD v4
2g.189001365T>ACA1040410509COL3A1c.2185-32T>A (n.2185-32T>A)
c.2284-32T>A (n.2284-32T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189001365T=CA1315401826COL3A1c.2185-32T= (n.2185-32T=)
c.2284-32T= (n.2284-32T=)
2g.189001366C>ACA2662309360COL3A1c.2185-31C>A (n.2185-31C>A)
c.2284-31C>A (n.2284-31C>A)
 gnomAD v4
2g.189001366C=CA1315401827COL3A1c.2185-31C= (n.2185-31C=)
c.2284-31C= (n.2284-31C=)
2g.189001366C>TCA538448786COL3A1c.2185-31C>T (n.2185-31C>T)
c.2284-31C>T (n.2284-31C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189001370A>GCA2662309361COL3A1c.2185-27A>G (n.2185-27A>G)
c.2284-27A>G (n.2284-27A>G)
 gnomAD v4
2g.189001372T>CCA1040410510COL3A1c.2185-25T>C (n.2185-25T>C)
c.2284-25T>C (n.2284-25T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.189001372T=CA1315401828COL3A1c.2185-25T= (n.2185-25T=)
c.2284-25T= (n.2284-25T=)
2g.189001373A=CA1315401829COL3A1c.2185-24A= (n.2185-24A=)
c.2284-24A= (n.2284-24A=)
2g.189001373A>TCA075172COL3A1c.2185-24A>T (n.2185-24A>T)
c.2284-24A>T (n.2284-24A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001378dupCA2570293818COL3A1c.2185-19dup (n.2185-19dup)
c.2284-19dup (n.2284-19dup)
2g.189001378delCA2662309362COL3A1c.2185-19del (n.2185-19del)
c.2284-19del (n.2284-19del)
 gnomAD v4
2g.189001374A=CA1315401830COL3A1c.2185-23A= (n.2185-23A=)
c.2284-23A= (n.2284-23A=)
2g.189001374A>CCA1315401831COL3A1c.2185-23A>C (n.2185-23A>C)
c.2284-23A>C (n.2284-23A>C)
 dbSNP
2g.189001375A>GCA2662309363COL3A1c.2185-22A>G (n.2185-22A>G)
c.2284-22A>G (n.2284-22A>G)
 gnomAD v4
2g.189001377A>GCA2662309364COL3A1c.2185-20A>G (n.2185-20A>G)
c.2284-20A>G (n.2284-20A>G)
 gnomAD v4
2g.189001378A=CA1315401832COL3A1c.2185-19A= (n.2185-19A=)
c.2284-19A= (n.2284-19A=)
2g.189001378A>GCA1315401833COL3A1c.2185-19A>G (n.2185-19A>G)
c.2284-19A>G (n.2284-19A>G)
 dbSNP gnomAD v4
2g.189001378A>TCA538448787COL3A1c.2185-19A>T (n.2185-19A>T)
c.2284-19A>T (n.2284-19A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189001380A>GCA2697551456COL3A1c.2185-17A>G (n.2185-17A>G)
c.2284-17A>G (n.2284-17A>G)
 ClinVar
2g.189001382T>ACA62555603COL3A1c.2185-15T>A (n.2185-15T>A)
c.2284-15T>A (n.2284-15T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001382T=CA1315401834COL3A1c.2185-15T= (n.2185-15T=)
c.2284-15T= (n.2284-15T=)
2g.189001383T>GCA2701313706COL3A1c.2185-14T>G (n.2185-14T>G)
c.2284-14T>G (n.2284-14T>G)
 dbSNP
2g.189001384T>GCA1040410515COL3A1c.2185-13T>G (n.2185-13T>G)
c.2284-13T>G (n.2284-13T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189001384T=CA1315401835COL3A1c.2185-13T= (n.2185-13T=)
c.2284-13T= (n.2284-13T=)
2g.189001387T>CCA62555604COL3A1c.2185-10T>C (n.2185-10T>C)
c.2284-10T>C (n.2284-10T>C)
 dbSNP gnomAD v4
2g.189001387T=CA1315401836COL3A1c.2185-10T= (n.2185-10T=)
c.2284-10T= (n.2284-10T=)
2g.189001389T>ACA538448788COL3A1c.2185-8T>A (n.2185-8T>A)
c.2284-8T>A (n.2284-8T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189001389T=CA1315401837COL3A1c.2185-8T= (n.2185-8T=)
c.2284-8T= (n.2284-8T=)
2g.189001390_189001392delinsCCTCA1315401838COL3A1c.2185-7_2185-5delinsCCT (n.2185-7_2185-5delinsCCT)
c.2284-7_2284-5delinsCCT (n.2284-7_2284-5delinsCCT)
2g.189001393_189001394delCA762201569COL3A1c.2185-4_2185-3del (n.2185-4_2185-3del)
c.2284-4_2284-3del (n.2284-4_2284-3del)
 dbSNP
2g.189001392T>CCA2662309365COL3A1c.2185-5T>C (n.2185-5T>C)
c.2284-5T>C (n.2284-5T>C)
 gnomAD v4
2g.189001393C=CA1315401839COL3A1c.2185-4C= (n.2185-4C=)
c.2284-4C= (n.2284-4C=)
2g.189001393C>GCA2499215538COL3A1c.2185-4C>G (n.2185-4C>G)
c.2284-4C>G (n.2284-4C>G)
 ClinVar dbSNP gnomAD v4
2g.189001393C>TCA1315401840COL3A1c.2185-4C>T (n.2185-4C>T)
c.2284-4C>T (n.2284-4C>T)
 dbSNP
2g.189001394T>CCA2753571816COL3A1c.2185-3T>C (n.2185-3T>C)
c.2284-3T>C (n.2284-3T>C)
2g.189001395A=CA1315401841COL3A1c.2185-2A= (n.2185-2A=)
c.2284-2A= (n.2284-2A=)
2g.189001395A>CCA349842338COL3A1c.2185-2A>C (n.2185-2A>C)
c.2284-2A>C (n.2284-2A>C)
2g.189001395A>GCA005275COL3A1c.2185-2A>G (n.2185-2A>G)
c.2284-2A>G (n.2284-2A>G)
 ClinVar dbSNP COSMIC
2g.189001395A>TCA349842339COL3A1c.2185-2A>T (n.2185-2A>T)
c.2284-2A>T (n.2284-2A>T)
2g.189001396G>ACA349842340COL3A1c.2185-1G>A (n.2185-1G>A)
c.2284-1G>A (n.2284-1G>A)
2g.189001396G>CCA349842341COL3A1c.2185-1G>C (n.2185-1G>C)
c.2284-1G>C (n.2284-1G>C)
2g.189001396G=CA1315401842COL3A1c.2185-1G= (n.2185-1G=)
c.2284-1G= (n.2284-1G=)
2g.189001396G>TCA349842342COL3A1c.2185-1G>T (n.2185-1G>T)
c.2284-1G>T (n.2284-1G>T)
 dbSNP
2g.189001397G>ACA349842343COL3A1c.2185G>A (p.Gly729Ser)
c.2284G>A (p.Gly762Ser)
 ClinVar dbSNP
2g.189001397G>CCA005283COL3A1c.2185G>C (p.Gly729Arg)
c.2284G>C (p.Gly762Arg)
 ClinVar dbSNP
2g.189001397G=CA1315401843COL3A1c.2185G= (p.Gly729=)
c.2284G= (p.Gly762=)
2g.189001397G>TCA349842344COL3A1c.2185G>T (p.Gly729Cys)
c.2284G>T (p.Gly762Cys)
 ClinVar
2g.189001398G>ACA005290COL3A1c.2186G>A (p.Gly729Asp)
c.2285G>A (p.Gly762Asp)
 ClinVar dbSNP
2g.189001398G>CCA349842345COL3A1c.2186G>C (p.Gly729Ala)
c.2285G>C (p.Gly762Ala)
2g.189001398G=CA1315401844COL3A1c.2186G= (p.Gly729=)
c.2285G= (p.Gly762=)
2g.189001398G>TCA005297COL3A1c.2186G>T (p.Gly729Val)
c.2285G>T (p.Gly762Val)
 ClinVar dbSNP
2g.189001399T>ACA430310848COL3A1c.2187T>A (p.Gly729=)
c.2286T>A (p.Gly762=)
2g.189001399T>CCA430310851COL3A1c.2187T>C (p.Gly729=)
c.2286T>C (p.Gly762=)
2g.189001399T>GCA430310853COL3A1c.2187T>G (p.Gly729=)
c.2286T>G (p.Gly762=)
 COSMIC COSMIC
2g.189001400C>ACA349842346COL3A1c.2188C>A (p.Pro730Thr)
c.2287C>A (p.Pro763Thr)
2g.189001400C=CA1315401845COL3A1c.2188C= (p.Pro730=)
c.2287C= (p.Pro763=)
2g.189001400C>GCA349842347COL3A1c.2188C>G (p.Pro730Ala)
c.2287C>G (p.Pro763Ala)
2g.189001400C>TCA075189COL3A1c.2188C>T (p.Pro730Ser)
c.2287C>T (p.Pro763Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001401C>ACA349842348COL3A1c.2189C>A (p.Pro730His)
c.2288C>A (p.Pro763His)
2g.189001401C=CA1315401846COL3A1c.2189C= (p.Pro730=)
c.2288C= (p.Pro763=)
2g.189001401C>GCA349842349COL3A1c.2189C>G (p.Pro730Arg)
c.2288C>G (p.Pro763Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.189001401C>TCA349842350COL3A1c.2189C>T (p.Pro730Leu)
c.2288C>T (p.Pro763Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001402T>ACA430310861COL3A1c.2190T>A (p.Pro730=)
c.2289T>A (p.Pro763=)
2g.189001402T>CCA430310858COL3A1c.2190T>C (p.Pro730=)
c.2289T>C (p.Pro763=)
 dbSNP gnomAD v2 gnomAD v4
2g.189001402T>GCA430310860COL3A1c.2190T>G (p.Pro730=)
c.2289T>G (p.Pro763=)
2g.189001402T=CA1315401847COL3A1c.2190T= (p.Pro730=)
c.2289T= (p.Pro763=)
2g.189001403A=CA1315401848COL3A1c.2191A= (p.Thr731=)
c.2290A= (p.Thr764=)
2g.189001403A>CCA349842351COL3A1c.2191A>C (p.Thr731Pro)
c.2290A>C (p.Thr764Pro)
2g.189001403A>GCA075193COL3A1c.2191A>G (p.Thr731Ala)
c.2290A>G (p.Thr764Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001403A>TCA349842352COL3A1c.2191A>T (p.Thr731Ser)
c.2290A>T (p.Thr764Ser)
2g.189001404C>ACA349842353COL3A1c.2192C>A (p.Thr731Asn)
c.2291C>A (p.Thr764Asn)
2g.189001404C>GCA349842354COL3A1c.2192C>G (p.Thr731Ser)
c.2291C>G (p.Thr764Ser)
2g.189001404C>TCA349842355COL3A1c.2192C>T (p.Thr731Ile)
c.2291C>T (p.Thr764Ile)
2g.189001405T>ACA430310863COL3A1c.2193T>A (p.Thr731=)
c.2292T>A (p.Thr764=)
2g.189001405T>CCA430310864COL3A1c.2193T>C (p.Thr731=)
c.2292T>C (p.Thr764=)
 gnomAD v4
2g.189001405T>GCA430310865COL3A1c.2193T>G (p.Thr731=)
c.2292T>G (p.Thr764=)
2g.189001406G>ACA005305COL3A1c.2194G>A (p.Gly732Ser)
c.2293G>A (p.Gly765Ser)
 ClinVar dbSNP
2g.189001406G>CCA349842356COL3A1c.2194G>C (p.Gly732Arg)
c.2293G>C (p.Gly765Arg)
2g.189001406G=CA1315401849COL3A1c.2194G= (p.Gly732=)
c.2293G= (p.Gly765=)
2g.189001406G>TCA349842357COL3A1c.2194G>T (p.Gly732Cys)
c.2293G>T (p.Gly765Cys)
2g.189001407G>ACA349842358COL3A1c.2195G>A (p.Gly732Asp)
c.2294G>A (p.Gly765Asp)
2g.189001407G>CCA349842359COL3A1c.2195G>C (p.Gly732Ala)
c.2294G>C (p.Gly765Ala)
2g.189001407G=CA1315401850COL3A1c.2195G= (p.Gly732=)
c.2294G= (p.Gly765=)
2g.189001407G>TCA005313COL3A1c.2195G>T (p.Gly732Val)
c.2294G>T (p.Gly765Val)
 ClinVar dbSNP
2g.189001408T>ACA430310871COL3A1c.2196T>A (p.Gly732=)
c.2295T>A (p.Gly765=)
2g.189001408T>CCA430310868COL3A1c.2196T>C (p.Gly732=)
c.2295T>C (p.Gly765=)
2g.189001408T>GCA430310869COL3A1c.2196T>G (p.Gly732=)
c.2295T>G (p.Gly765=)
2g.189001409C>ACA349842360COL3A1c.2197C>A (p.Pro733Thr)
c.2296C>A (p.Pro766Thr)
 dbSNP
2g.189001409C>GCA349842361COL3A1c.2197C>G (p.Pro733Ala)
c.2296C>G (p.Pro766Ala)
2g.189001409C>TCA349842362COL3A1c.2197C>T (p.Pro733Ser)
c.2296C>T (p.Pro766Ser)
 COSMIC COSMIC
2g.189001410C>ACA349842363COL3A1c.2198C>A (p.Pro733His)
c.2297C>A (p.Pro766His)
2g.189001410C>GCA349842364COL3A1c.2198C>G (p.Pro733Arg)
c.2297C>G (p.Pro766Arg)
2g.189001410C>TCA349842365COL3A1c.2198C>T (p.Pro733Leu)
c.2297C>T (p.Pro766Leu)
 gnomAD v4
2g.189001411T>ACA430310874COL3A1c.2199T>A (p.Pro733=)
c.2298T>A (p.Pro766=)
2g.189001411T>CCA430310876COL3A1c.2199T>C (p.Pro733=)
c.2298T>C (p.Pro766=)
2g.189001411T>GCA430310877COL3A1c.2199T>G (p.Pro733=)
c.2298T>G (p.Pro766=)
 ClinVar dbSNP gnomAD v2
2g.189001411T=CA1315401851COL3A1c.2199T= (p.Pro733=)
c.2298T= (p.Pro766=)
2g.189001412A=CA1315401852COL3A1c.2200A= (p.Ile734=)
c.2299A= (p.Ile767=)
2g.189001412A>CCA349842366COL3A1c.2200A>C (p.Ile734Leu)
c.2299A>C (p.Ile767Leu)
2g.189001412A>GCA349842368COL3A1c.2200A>G (p.Ile734Val)
c.2299A>G (p.Ile767Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001412A>TCA349842367COL3A1c.2200A>T (p.Ile734Phe)
c.2299A>T (p.Ile767Phe)
 ClinVar gnomAD v4
2g.189001412_189001429dupCA2586965494COL3A1c.2200_2217dup (p.Pro739_Ala740insIleGlyProProGlyPro)
c.2299_2316dup (p.Pro772_Ala773insIleGlyProProGlyPro)
2g.189001413T>ACA349842369COL3A1c.2201T>A (p.Ile734Asn)
c.2300T>A (p.Ile767Asn)
2g.189001413T>CCA349842370COL3A1c.2201T>C (p.Ile734Thr)
c.2300T>C (p.Ile767Thr)
2g.189001413T>GCA349842371COL3A1c.2201T>G (p.Ile734Ser)
c.2300T>G (p.Ile767Ser)
2g.189001414T>ACA430310880COL3A1c.2202T>A (p.Ile734=)
c.2301T>A (p.Ile767=)
2g.189001414T>CCA430310881COL3A1c.2202T>C (p.Ile734=)
c.2301T>C (p.Ile767=)
 ClinVar dbSNP gnomAD v4
2g.189001414T>GCA349842372COL3A1c.2202T>G (p.Ile734Met)
c.2301T>G (p.Ile767Met)
2g.189001414T=CA1315401853COL3A1c.2202T= (p.Ile734=)
c.2301T= (p.Ile767=)
2g.189001415G>ACA349842375COL3A1c.2203G>A (p.Gly735Ser)
c.2302G>A (p.Gly768Ser)
2g.189001415G>CCA349842374COL3A1c.2203G>C (p.Gly735Arg)
c.2302G>C (p.Gly768Arg)
 ClinVar
2g.189001415G>TCA349842373COL3A1c.2203G>T (p.Gly735Cys)
c.2302G>T (p.Gly768Cys)
2g.189001416G>ACA349842376COL3A1c.2204G>A (p.Gly735Asp)
c.2303G>A (p.Gly768Asp)
2g.189001416G>CCA349842378COL3A1c.2204G>C (p.Gly735Ala)
c.2303G>C (p.Gly768Ala)
2g.189001416G>TCA349842377COL3A1c.2204G>T (p.Gly735Val)
c.2303G>T (p.Gly768Val)
 COSMIC COSMIC
2g.189001417T>ACA430310887COL3A1c.2205T>A (p.Gly735=)
c.2304T>A (p.Gly768=)
2g.189001417T>CCA430310888COL3A1c.2205T>C (p.Gly735=)
c.2304T>C (p.Gly768=)
 ClinVar
2g.189001417T>GCA430310885COL3A1c.2205T>G (p.Gly735=)
c.2304T>G (p.Gly768=)
2g.189001421_189001423delCA2580616653COL3A1c.2209_2211del (p.Pro737del)
c.2308_2310del (p.Pro770del)
 ClinVar dbSNP
2g.189001418C>ACA349842379COL3A1c.2206C>A (p.Pro736Thr)
c.2305C>A (p.Pro769Thr)
2g.189001418C=CA1315401854COL3A1c.2206C= (p.Pro736=)
c.2305C= (p.Pro769=)
2g.189001418C>GCA349842380COL3A1c.2206C>G (p.Pro736Ala)
c.2305C>G (p.Pro769Ala)
2g.189001418C>TCA075199COL3A1c.2206C>T (p.Pro736Ser)
c.2305C>T (p.Pro769Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189001419C>ACA349842381COL3A1c.2207C>A (p.Pro736His)
c.2306C>A (p.Pro769His)
2g.189001419C>GCA349842382COL3A1c.2207C>G (p.Pro736Arg)
c.2306C>G (p.Pro769Arg)
2g.189001419C>TCA349842383COL3A1c.2207C>T (p.Pro736Leu)
c.2306C>T (p.Pro769Leu)
2g.189001420T>ACA430310891COL3A1c.2208T>A (p.Pro736=)
c.2307T>A (p.Pro769=)
2g.189001420T>CCA430310892COL3A1c.2208T>C (p.Pro736=)
c.2307T>C (p.Pro769=)
 gnomAD v4
2g.189001420T>GCA430310893COL3A1c.2208T>G (p.Pro736=)
c.2307T>G (p.Pro769=)
2g.189001421C>ACA349842384COL3A1c.2209C>A (p.Pro737Thr)
c.2308C>A (p.Pro770Thr)
2g.189001421C=CA1315401855COL3A1c.2209C= (p.Pro737=)
c.2308C= (p.Pro770=)
2g.189001421C>GCA349842385COL3A1c.2209C>G (p.Pro737Ala)
c.2308C>G (p.Pro770Ala)
2g.189001421C>TCA075200COL3A1c.2209C>T (p.Pro737Ser)
c.2308C>T (p.Pro770Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.189001422C>ACA349842386COL3A1c.2210C>A (p.Pro737His)
c.2309C>A (p.Pro770His)
2g.189001422C=CA1315401856COL3A1c.2210C= (p.Pro737=)
c.2309C= (p.Pro770=)
2g.189001422C>GCA349842387COL3A1c.2210C>G (p.Pro737Arg)
c.2309C>G (p.Pro770Arg)
2g.189001422C>TCA349842388COL3A1c.2210C>T (p.Pro737Leu)
c.2309C>T (p.Pro770Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.189001423T>ACA430310897COL3A1c.2211T>A (p.Pro737=)
c.2310T>A (p.Pro770=)
2g.189001423T>CCA430310898COL3A1c.2211T>C (p.Pro737=)
c.2310T>C (p.Pro770=)
2g.189001423T>GCA430310904COL3A1c.2211T>G (p.Pro737=)
c.2310T>G (p.Pro770=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189001423T=CA1315401857COL3A1c.2211T= (p.Pro737=)
c.2310T= (p.Pro770=)
2g.189001424G>ACA349842389COL3A1c.2212G>A (p.Gly738Ser)
c.2311G>A (p.Gly771Ser)
 gnomAD v4
2g.189001424G>CCA349842390COL3A1c.2212G>C (p.Gly738Arg)
c.2311G>C (p.Gly771Arg)
2g.189001424G>TCA349842391COL3A1c.2212G>T (p.Gly738Cys)
c.2311G>T (p.Gly771Cys)
2g.189001425G>ACA16610666COL3A1c.2213G>A (p.Gly738Asp)
c.2312G>A (p.Gly771Asp)
 ClinVar dbSNP
2g.189001425G>CCA349842392COL3A1c.2213G>C (p.Gly738Ala)
c.2312G>C (p.Gly771Ala)
2g.189001425G=CA1315401858COL3A1c.2213G= (p.Gly738=)
c.2312G= (p.Gly771=)
2g.189001425G>TCA349842393COL3A1c.2213G>T (p.Gly738Val)
c.2312G>T (p.Gly771Val)
2g.189001426C>ACA430310907COL3A1c.2214C>A (p.Gly738=)
c.2313C>A (p.Gly771=)
 gnomAD v4
2g.189001426C>GCA430310909COL3A1c.2214C>G (p.Gly738=)
c.2313C>G (p.Gly771=)
2g.189001426C>TCA430310911COL3A1c.2214C>T (p.Gly738=)
c.2313C>T (p.Gly771=)
2g.189001427C>ACA349842394COL3A1c.2215C>A (p.Pro739Thr)
c.2314C>A (p.Pro772Thr)
2g.189001427C>GCA349842395COL3A1c.2215C>G (p.Pro739Ala)
c.2314C>G (p.Pro772Ala)
2g.189001427C>TCA349842396COL3A1c.2215C>T (p.Pro739Ser)
c.2314C>T (p.Pro772Ser)
 dbSNP
2g.189001428C>ACA349842397COL3A1c.2216C>A (p.Pro739Gln)
c.2315C>A (p.Pro772Gln)
2g.189001428C>GCA349842398COL3A1c.2216C>G (p.Pro739Arg)
c.2315C>G (p.Pro772Arg)
2g.189001428C>TCA349842399COL3A1c.2216C>T (p.Pro739Leu)
c.2315C>T (p.Pro772Leu)
2g.189001429A=CA1315401859COL3A1c.2217A= (p.Pro739=)
c.2316A= (p.Pro772=)
2g.189001429A>CCA430310917COL3A1c.2217A>C (p.Pro739=)
c.2316A>C (p.Pro772=)
2g.189001429A>GCA075202COL3A1c.2217A>G (p.Pro739=)
c.2316A>G (p.Pro772=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001429A>TCA430310915COL3A1c.2217A>T (p.Pro739=)
c.2316A>T (p.Pro772=)
2g.189001430G>ACA349842400COL3A1c.2218G>A (p.Ala740Thr)
c.2317G>A (p.Ala773Thr)
2g.189001430G>CCA349842401COL3A1c.2218G>C (p.Ala740Pro)
c.2317G>C (p.Ala773Pro)
2g.189001430G=CA1315401860COL3A1c.2218G= (p.Ala740=)
c.2317G= (p.Ala773=)
2g.189001430G>TCA349842402COL3A1c.2218G>T (p.Ala740Ser)
c.2317G>T (p.Ala773Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001431C>ACA349842405COL3A1c.2219C>A (p.Ala740Asp)
c.2318C>A (p.Ala773Asp)
2g.189001431C>GCA349842404COL3A1c.2219C>G (p.Ala740Gly)
c.2318C>G (p.Ala773Gly)
 ClinVar dbSNP
2g.189001431C>TCA349842403COL3A1c.2219C>T (p.Ala740Val)
c.2318C>T (p.Ala773Val)
2g.189001432T>ACA430310919COL3A1c.2220T>A (p.Ala740=)
c.2319T>A (p.Ala773=)
2g.189001432T>CCA430310921COL3A1c.2220T>C (p.Ala740=)
c.2319T>C (p.Ala773=)
 ClinVar dbSNP
2g.189001432T>GCA430310923COL3A1c.2220T>G (p.Ala740=)
c.2319T>G (p.Ala773=)
2g.189001433G>ACA349842406COL3A1c.2221G>A (p.Gly741Ser)
c.2320G>A (p.Gly774Ser)
2g.189001433G>CCA349842407COL3A1c.2221G>C (p.Gly741Arg)
c.2320G>C (p.Gly774Arg)
2g.189001433G>TCA349842408COL3A1c.2221G>T (p.Gly741Cys)
c.2320G>T (p.Gly774Cys)
2g.189001434G>ACA349842409COL3A1c.2222G>A (p.Gly741Asp)
c.2321G>A (p.Gly774Asp)
 ClinVar gnomAD v4
2g.189001434G>CCA349842410COL3A1c.2222G>C (p.Gly741Ala)
c.2321G>C (p.Gly774Ala)
2g.189001434G>TCA349842411COL3A1c.2222G>T (p.Gly741Val)
c.2321G>T (p.Gly774Val)
2g.189001435C>ACA430310931COL3A1c.2223C>A (p.Gly741=)
c.2322C>A (p.Gly774=)
2g.189001435C=CA1315401861COL3A1c.2223C= (p.Gly741=)
c.2322C= (p.Gly774=)
2g.189001435C>GCA430310932COL3A1c.2223C>G (p.Gly741=)
c.2322C>G (p.Gly774=)
2g.189001435C>TCA430310936COL3A1c.2223C>T (p.Gly741=)
c.2322C>T (p.Gly774=)
 dbSNP
2g.189001436C>ACA349842412COL3A1c.2224C>A (p.Gln742Lys)
c.2323C>A (p.Gln775Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.189001436C=CA1315401862COL3A1c.2224C= (p.Gln742=)
c.2323C= (p.Gln775=)
2g.189001436C>GCA349842413COL3A1c.2224C>G (p.Gln742Glu)
c.2323C>G (p.Gln775Glu)
2g.189001436C>TCA349842414COL3A1c.2224C>T (p.Gln742Ter)
c.2323C>T (p.Gln775Ter)
2g.189001437A>CCA349842415COL3A1c.2225A>C (p.Gln742Pro)
c.2324A>C (p.Gln775Pro)
2g.189001437A>GCA349842416COL3A1c.2225A>G (p.Gln742Arg)
c.2324A>G (p.Gln775Arg)
2g.189001437A>TCA349842417COL3A1c.2225A>T (p.Gln742Leu)
c.2324A>T (p.Gln775Leu)
2g.189001438G>ACA430310939COL3A1c.2226G>A (p.Gln742=)
c.2325G>A (p.Gln775=)
 dbSNP
2g.189001438G>CCA349842419COL3A1c.2226G>C (p.Gln742His)
c.2325G>C (p.Gln775His)
2g.189001438G=CA1315401863COL3A1c.2226G= (p.Gln742=)
c.2325G= (p.Gln775=)
2g.189001438G>TCA349842418COL3A1c.2226G>T (p.Gln742His)
c.2325G>T (p.Gln775His)
 gnomAD v4
2g.189001439C>ACA349842420COL3A1c.2227C>A (p.Pro743Thr)
c.2326C>A (p.Pro776Thr)
2g.189001439C>GCA349842421COL3A1c.2227C>G (p.Pro743Ala)
c.2326C>G (p.Pro776Ala)
2g.189001439C>TCA349842422COL3A1c.2227C>T (p.Pro743Ser)
c.2326C>T (p.Pro776Ser)
2g.189001440delCA2753571817COL3A1c.2228del (p.Pro743LeufsTer15)
c.2327del (p.Pro776LeufsTer15)
2g.189001440C>ACA349842423COL3A1c.2228C>A (p.Pro743His)
c.2327C>A (p.Pro776His)
 dbSNP
2g.189001440C=CA1315401864COL3A1c.2228C= (p.Pro743=)
c.2327C= (p.Pro776=)
2g.189001440C>GCA349842424COL3A1c.2228C>G (p.Pro743Arg)
c.2327C>G (p.Pro776Arg)
2g.189001440C>TCA349842425COL3A1c.2228C>T (p.Pro743Leu)
c.2327C>T (p.Pro776Leu)
 gnomAD v4
2g.189001441T>ACA430310941COL3A1c.2229T>A (p.Pro743=)
c.2328T>A (p.Pro776=)
2g.189001441T>CCA430310942COL3A1c.2229T>C (p.Pro743=)
c.2328T>C (p.Pro776=)
2g.189001441T>GCA430310943COL3A1c.2229T>G (p.Pro743=)
c.2328T>G (p.Pro776=)
2g.189001442G>ACA349842426COL3A1c.2230G>A (p.Gly744Arg)
c.2329G>A (p.Gly777Arg)
2g.189001442G>CCA349842427COL3A1c.2230G>C (p.Gly744Arg)
c.2329G>C (p.Gly777Arg)
2g.189001442G>TCA349842428COL3A1c.2230G>T (p.Gly744Ter)
c.2329G>T (p.Gly777Ter)
2g.189001443G>ACA349842429COL3A1c.2231G>A (p.Gly744Glu)
c.2330G>A (p.Gly777Glu)
 ClinVar COSMIC
2g.189001443G>CCA349842430COL3A1c.2231G>C (p.Gly744Ala)
c.2330G>C (p.Gly777Ala)
2g.189001443G>TCA349842431COL3A1c.2231G>T (p.Gly744Val)
c.2330G>T (p.Gly777Val)
2g.189001444A>CCA430310950COL3A1c.2232A>C (p.Gly744=)
c.2331A>C (p.Gly777=)
2g.189001444A>GCA430310948COL3A1c.2232A>G (p.Gly744=)
c.2331A>G (p.Gly777=)
2g.189001444A>TCA430310949COL3A1c.2232A>T (p.Gly744=)
c.2331A>T (p.Gly777=)
2g.189001445G>ACA349842433COL3A1c.2233G>A (p.Asp745Asn)
c.2332G>A (p.Asp778Asn)
 gnomAD v4
2g.189001445G>CCA62555615COL3A1c.2233G>C (p.Asp745His)
c.2332G>C (p.Asp778His)
 dbSNP
2g.189001445G=CA1315401865COL3A1c.2233G= (p.Asp745=)
c.2332G= (p.Asp778=)
2g.189001445G>TCA349842432COL3A1c.2233G>T (p.Asp745Tyr)
c.2332G>T (p.Asp778Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.189001446A>CCA349842434COL3A1c.2234A>C (p.Asp745Ala)
c.2333A>C (p.Asp778Ala)
2g.189001446A>GCA349842436COL3A1c.2234A>G (p.Asp745Gly)
c.2333A>G (p.Asp778Gly)
2g.189001446A>TCA349842435COL3A1c.2234A>T (p.Asp745Val)
c.2333A>T (p.Asp778Val)
2g.189001447T>ACA349842437COL3A1c.2235T>A (p.Asp745Glu)
c.2334T>A (p.Asp778Glu)
2g.189001447T>CCA430310955COL3A1c.2235T>C (p.Asp745=)
c.2334T>C (p.Asp778=)
2g.189001447T>GCA349842438COL3A1c.2235T>G (p.Asp745Glu)
c.2334T>G (p.Asp778Glu)
 dbSNP
2g.189001447T=CA1315401866COL3A1c.2235T= (p.Asp745=)
c.2334T= (p.Asp778=)
2g.189001448A>CCA349842439COL3A1c.2236A>C (p.Lys746Gln)
c.2335A>C (p.Lys779Gln)
 gnomAD v4
2g.189001448A>GCA349842440COL3A1c.2236A>G (p.Lys746Glu)
c.2335A>G (p.Lys779Glu)
2g.189001448A>TCA349842441COL3A1c.2236A>T (p.Lys746Ter)
c.2335A>T (p.Lys779Ter)
2g.189001449A>CCA349842442COL3A1c.2237A>C (p.Lys746Thr)
c.2336A>C (p.Lys779Thr)
2g.189001449A>GCA349842443COL3A1c.2237A>G (p.Lys746Arg)
c.2336A>G (p.Lys779Arg)
2g.189001449A>TCA349842444COL3A1c.2237A>T (p.Lys746Met)
c.2336A>T (p.Lys779Met)
2g.189001450G>ACA005337COL3A1c.2238G>A (p.Lys746=)
c.2337G>A (p.Lys779=)
 ClinVar dbSNP
2g.189001450G>CCA349842445COL3A1c.2238G>C (p.Lys746Asn)
c.2337G>C (p.Lys779Asn)
 ClinVar
2g.189001450G=CA1315401867COL3A1c.2238G= (p.Lys746=)
c.2337G= (p.Lys779=)
2g.189001450G>TCA349842446COL3A1c.2238G>T (p.Lys746Asn)
c.2337G>T (p.Lys779Asn)
2g.189001451G>ACA005320COL3A1c.2238+1G>A (n.2238+1G>A)
c.2337+1G>A (n.2337+1G>A)
 ClinVar dbSNP
2g.189001451G>CCA349842448COL3A1c.2238+1G>C (n.2238+1G>C)
c.2337+1G>C (n.2337+1G>C)
2g.189001451G=CA1315401868COL3A1c.2238+1G= (n.2238+1G=)
c.2337+1G= (n.2337+1G=)
2g.189001451G>TCA349842447COL3A1c.2238+1G>T (n.2238+1G>T)
c.2337+1G>T (n.2337+1G>T)
2g.189001452T>ACA349842449COL3A1c.2238+2T>A (n.2238+2T>A)
c.2337+2T>A (n.2337+2T>A)
2g.189001452T>CCA005327COL3A1c.2238+2T>C (n.2238+2T>C)
c.2337+2T>C (n.2337+2T>C)
 ClinVar dbSNP
2g.189001452T>GCA349842450COL3A1c.2238+2T>G (n.2238+2T>G)
c.2337+2T>G (n.2337+2T>G)
2g.189001452T=CA1315401869COL3A1c.2238+2T= (n.2238+2T=)
c.2337+2T= (n.2337+2T=)
2g.189001454A=CA1315401870COL3A1c.2238+4A= (n.2238+4A=)
c.2337+4A= (n.2337+4A=)
2g.189001454A>GCA075218COL3A1c.2238+4A>G (n.2238+4A>G)
c.2337+4A>G (n.2337+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001455C>TCA2662309366COL3A1c.2238+5C>T (n.2238+5C>T)
c.2337+5C>T (n.2337+5C>T)
 gnomAD v4
2g.189001456C>ACA538448789COL3A1c.2238+6C>A (n.2238+6C>A)
c.2337+6C>A (n.2337+6C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189001456C=CA1315401871COL3A1c.2238+6C= (n.2238+6C=)
c.2337+6C= (n.2337+6C=)
2g.189001456C>TCA2662309367COL3A1c.2238+6C>T (n.2238+6C>T)
c.2337+6C>T (n.2337+6C>T)
 gnomAD v4
2g.189001457C>ACA16610550COL3A1c.2238+7C>A (n.2238+7C>A)
c.2337+7C>A (n.2337+7C>A)
 ClinVar dbSNP gnomAD v4
2g.189001457C=CA1315401872COL3A1c.2238+7C= (n.2238+7C=)
c.2337+7C= (n.2337+7C=)
2g.189001461A=CA1315401873COL3A1c.2238+11A= (n.2238+11A=)
c.2337+11A= (n.2337+11A=)
2g.189001461A>CCA075205COL3A1c.2238+11A>C (n.2238+11A>C)
c.2337+11A>C (n.2337+11A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001465_189001467delCA2577185693COL3A1c.2238+15_2238+17del (n.2238+15_2238+17del)
c.2337+15_2337+17del (n.2337+15_2337+17del)
2g.189001463A=CA1315401874COL3A1c.2238+13A= (n.2238+13A=)
c.2337+13A= (n.2337+13A=)
2g.189001463A>CCA075206COL3A1c.2238+13A>C (n.2238+13A>C)
c.2337+13A>C (n.2337+13A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001463A>GCA1040410543COL3A1c.2238+13A>G (n.2238+13A>G)
c.2337+13A>G (n.2337+13A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189001464C>ACA2662309368COL3A1c.2238+14C>A (n.2238+14C>A)
c.2337+14C>A (n.2337+14C>A)
 gnomAD v4
2g.189001464C=CA1315401875COL3A1c.2238+14C= (n.2238+14C=)
c.2337+14C= (n.2337+14C=)
2g.189001464C>GCA538448790COL3A1c.2238+14C>G (n.2238+14C>G)
c.2337+14C>G (n.2337+14C>G)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched