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.189001328_189001330delinsTTCCA1315401816COL3A1c.2185-69_2185-67delinsTTC (n.2185-69_2185-67delinsTTC)
c.2284-69_2284-67delinsTTC (n.2284-69_2284-67delinsTTC)
2g.189001330_189001331delCA762201544COL3A1c.2185-67_2185-66del (n.2185-67_2185-66del)
c.2284-67_2284-66del (n.2284-67_2284-66del)
 dbSNP gnomAD v3 gnomAD v4
2g.189001330C>GCA2662309339COL3A1c.2185-67C>G (n.2185-67C>G)
c.2284-67C>G (n.2284-67C>G)
 gnomAD v4
2g.189001332_189001362dupCA2662309340COL3A1c.2185-65_2185-35dup (n.2185-65_2185-35dup)
c.2284-65_2284-35dup (n.2284-65_2284-35dup)
 gnomAD v4
2g.189001332G>TCA2662309341COL3A1c.2185-65G>T (n.2185-65G>T)
c.2284-65G>T (n.2284-65G>T)
 gnomAD v4
2g.189001334T>ACA2662309342COL3A1c.2185-63T>A (n.2185-63T>A)
c.2284-63T>A (n.2284-63T>A)
 gnomAD v4
2g.189001335T>CCA2662309343COL3A1c.2185-62T>C (n.2185-62T>C)
c.2284-62T>C (n.2284-62T>C)
 gnomAD v4
2g.189001336G>TCA2662309344COL3A1c.2185-61G>T (n.2185-61G>T)
c.2284-61G>T (n.2284-61G>T)
 gnomAD v4
2g.189001337A=CA1315401817COL3A1c.2185-60A= (n.2185-60A=)
c.2284-60A= (n.2284-60A=)
2g.189001337A>TCA62555585COL3A1c.2185-60A>T (n.2185-60A>T)
c.2284-60A>T (n.2284-60A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001338T>CCA2662309345COL3A1c.2185-59T>C (n.2185-59T>C)
c.2284-59T>C (n.2284-59T>C)
 gnomAD v4
2g.189001339T>ACA2662309346COL3A1c.2185-58T>A (n.2185-58T>A)
c.2284-58T>A (n.2284-58T>A)
 gnomAD v4
2g.189001340A>TCA2577185690COL3A1c.2185-57A>T (n.2185-57A>T)
c.2284-57A>T (n.2284-57A>T)
 gnomAD v4
2g.189001343G>ACA62555587COL3A1c.2185-54G>A (n.2185-54G>A)
c.2284-54G>A (n.2284-54G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001343G=CA1315401818COL3A1c.2185-54G= (n.2185-54G=)
c.2284-54G= (n.2284-54G=)
2g.189001343G>TCA2662309347COL3A1c.2185-54G>T (n.2185-54G>T)
c.2284-54G>T (n.2284-54G>T)
 gnomAD v4
2g.189001344C>ACA2577185691COL3A1c.2185-53C>A (n.2185-53C>A)
c.2284-53C>A (n.2284-53C>A)
 gnomAD v4
2g.189001344C=CA1315401819COL3A1c.2185-53C= (n.2185-53C=)
c.2284-53C= (n.2284-53C=)
2g.189001345A>GCA2662309349COL3A1c.2185-52A>G (n.2185-52A>G)
c.2284-52A>G (n.2284-52A>G)
 gnomAD v4
2g.189001350dupCA538448785COL3A1c.2185-47dup (n.2185-47dup)
c.2284-47dup (n.2284-47dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189001350delCA2662309348COL3A1c.2185-47del (n.2185-47del)
c.2284-47del (n.2284-47del)
 gnomAD v4
2g.189001347A>CCA2662309350COL3A1c.2185-50A>C (n.2185-50A>C)
c.2284-50A>C (n.2284-50A>C)
 gnomAD v4
2g.189001348A>GCA2662309351COL3A1c.2185-49A>G (n.2185-49A>G)
c.2284-49A>G (n.2284-49A>G)
 gnomAD v4
2g.189001348A>TCA2662309352COL3A1c.2185-49A>T (n.2185-49A>T)
c.2284-49A>T (n.2284-49A>T)
 gnomAD v4
2g.189001349A=CA1315401820COL3A1c.2185-48A= (n.2185-48A=)
c.2284-48A= (n.2284-48A=)
2g.189001349A>GCA075186COL3A1c.2185-48A>G (n.2185-48A>G)
c.2284-48A>G (n.2284-48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001351C>ACA075181COL3A1c.2185-46C>A (n.2185-46C>A)
c.2284-46C>A (n.2284-46C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001351C=CA1315401821COL3A1c.2185-46C= (n.2185-46C=)
c.2284-46C= (n.2284-46C=)
2g.189001351C>TCA075182COL3A1c.2185-46C>T (n.2185-46C>T)
c.2284-46C>T (n.2284-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001352G>ACA075177COL3A1c.2185-45G>A (n.2185-45G>A)
c.2284-45G>A (n.2284-45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189001352G=CA1315401822COL3A1c.2185-45G= (n.2185-45G=)
c.2284-45G= (n.2284-45G=)
2g.189001354T>ACA1315401824COL3A1c.2185-43T>A (n.2185-43T>A)
c.2284-43T>A (n.2284-43T>A)
 dbSNP
2g.189001354T=CA1315401823COL3A1c.2185-43T= (n.2185-43T=)
c.2284-43T= (n.2284-43T=)
2g.189001356T>CCA2662309353COL3A1c.2185-41T>C (n.2185-41T>C)
c.2284-41T>C (n.2284-41T>C)
 gnomAD v4
2g.189001357T>ACA2662309354COL3A1c.2185-40T>A (n.2185-40T>A)
c.2284-40T>A (n.2284-40T>A)
 gnomAD v4
2g.189001357T>CCA2662309355COL3A1c.2185-40T>C (n.2185-40T>C)
c.2284-40T>C (n.2284-40T>C)
 gnomAD v4
2g.189001358T>ACA2662309356COL3A1c.2185-39T>A (n.2185-39T>A)
c.2284-39T>A (n.2284-39T>A)
 gnomAD v4
2g.189001359G>ACA075175COL3A1c.2185-38G>A (n.2185-38G>A)
c.2284-38G>A (n.2284-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189001359G=CA1315401825COL3A1c.2185-38G= (n.2185-38G=)
c.2284-38G= (n.2284-38G=)
2g.189001361A>GCA2577185692COL3A1c.2185-36A>G (n.2185-36A>G)
c.2284-36A>G (n.2284-36A>G)
2g.189001362T>CCA2662309357COL3A1c.2185-35T>C (n.2185-35T>C)
c.2284-35T>C (n.2284-35T>C)
 gnomAD v4
2g.189001363C>ACA2662309358COL3A1c.2185-34C>A (n.2185-34C>A)
c.2284-34C>A (n.2284-34C>A)
 gnomAD v4
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)
 ClinVar
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=)

Number of alleles fetched