Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.75119074G>ACA451111334COL12A1c.7323C>T (p.Val2441=)
c.3831C>T (p.Val1277=)
c.237C>T (p.Val79=)
c.3756C>T (p.Val1252=)
c.7050C>T (p.Val2350=)
c.7287C>T (p.Val2429=)
6g.75119074G>CCA451111335COL12A1c.7323C>G (p.Val2441=)
c.3831C>G (p.Val1277=)
c.237C>G (p.Val79=)
c.3756C>G (p.Val1252=)
c.7050C>G (p.Val2350=)
c.7287C>G (p.Val2429=)
 dbSNP
6g.75119074G=CA1638933330COL12A1c.7323C= (p.Val2441=)
c.3831C= (p.Val1277=)
c.237C= (p.Val79=)
c.3756C= (p.Val1252=)
c.7050C= (p.Val2350=)
c.7287C= (p.Val2429=)
6g.75119074G>TCA451111336COL12A1c.7323C>A (p.Val2441=)
c.3831C>A (p.Val1277=)
c.237C>A (p.Val79=)
c.3756C>A (p.Val1252=)
c.7050C>A (p.Val2350=)
c.7287C>A (p.Val2429=)
6g.75119075A>CCA364747469COL12A1c.7322T>G (p.Val2441Gly)
c.3830T>G (p.Val1277Gly)
c.236T>G (p.Val79Gly)
c.3755T>G (p.Val1252Gly)
c.7049T>G (p.Val2350Gly)
c.7286T>G (p.Val2429Gly)
6g.75119075A>GCA364747473COL12A1c.7322T>C (p.Val2441Ala)
c.3830T>C (p.Val1277Ala)
c.236T>C (p.Val79Ala)
c.3755T>C (p.Val1252Ala)
c.7049T>C (p.Val2350Ala)
c.7286T>C (p.Val2429Ala)
 gnomAD v4
6g.75119075A>TCA364747480COL12A1c.7322T>A (p.Val2441Asp)
c.3830T>A (p.Val1277Asp)
c.236T>A (p.Val79Asp)
c.3755T>A (p.Val1252Asp)
c.7049T>A (p.Val2350Asp)
c.7286T>A (p.Val2429Asp)
6g.75119076C>ACA364747484COL12A1c.7321G>T (p.Val2441Phe)
c.3829G>T (p.Val1277Phe)
c.235G>T (p.Val79Phe)
c.3754G>T (p.Val1252Phe)
c.7048G>T (p.Val2350Phe)
c.7285G>T (p.Val2429Phe)
6g.75119076C>GCA364747486COL12A1c.7321G>C (p.Val2441Leu)
c.3829G>C (p.Val1277Leu)
c.235G>C (p.Val79Leu)
c.3754G>C (p.Val1252Leu)
c.7048G>C (p.Val2350Leu)
c.7285G>C (p.Val2429Leu)
 gnomAD v4
6g.75119076C>TCA364747492COL12A1c.7321G>A (p.Val2441Ile)
c.3829G>A (p.Val1277Ile)
c.235G>A (p.Val79Ile)
c.3754G>A (p.Val1252Ile)
c.7048G>A (p.Val2350Ile)
c.7285G>A (p.Val2429Ile)
6g.75119077C>ACA364747495COL12A1c.7320G>T (p.Glu2440Asp)
c.3828G>T (p.Glu1276Asp)
c.234G>T (p.Glu78Asp)
c.3753G>T (p.Glu1251Asp)
c.7047G>T (p.Glu2349Asp)
c.7284G>T (p.Glu2428Asp)
6g.75119077C=CA1638933331COL12A1c.7320G= (p.Glu2440=)
c.3828G= (p.Glu1276=)
c.234G= (p.Glu78=)
c.3753G= (p.Glu1251=)
c.7047G= (p.Glu2349=)
c.7284G= (p.Glu2428=)
6g.75119077C>GCA364747497COL12A1c.7320G>C (p.Glu2440Asp)
c.3828G>C (p.Glu1276Asp)
c.234G>C (p.Glu78Asp)
c.3753G>C (p.Glu1251Asp)
c.7047G>C (p.Glu2349Asp)
c.7284G>C (p.Glu2428Asp)
6g.75119077C>TCA451111340COL12A1c.7320G>A (p.Glu2440=)
c.3828G>A (p.Glu1276=)
c.234G>A (p.Glu78=)
c.3753G>A (p.Glu1251=)
c.7047G>A (p.Glu2349=)
c.7284G>A (p.Glu2428=)
 dbSNP gnomAD v2 gnomAD v4
6g.75119078T>ACA364747499COL12A1c.7319A>T (p.Glu2440Val)
c.3827A>T (p.Glu1276Val)
c.233A>T (p.Glu78Val)
c.3752A>T (p.Glu1251Val)
c.7046A>T (p.Glu2349Val)
c.7283A>T (p.Glu2428Val)
6g.75119078T>CCA364747498COL12A1c.7319A>G (p.Glu2440Gly)
c.3827A>G (p.Glu1276Gly)
c.233A>G (p.Glu78Gly)
c.3752A>G (p.Glu1251Gly)
c.7046A>G (p.Glu2349Gly)
c.7283A>G (p.Glu2428Gly)
6g.75119078T>GCA141013864COL12A1c.7319A>C (p.Glu2440Ala)
c.3827A>C (p.Glu1276Ala)
c.233A>C (p.Glu78Ala)
c.3752A>C (p.Glu1251Ala)
c.7046A>C (p.Glu2349Ala)
c.7283A>C (p.Glu2428Ala)
 dbSNP
6g.75119078T=CA1638933332COL12A1c.7319A= (p.Glu2440=)
c.3827A= (p.Glu1276=)
c.233A= (p.Glu78=)
c.3752A= (p.Glu1251=)
c.7046A= (p.Glu2349=)
c.7283A= (p.Glu2428=)
6g.75119079C>ACA364747500COL12A1c.7318G>T (p.Glu2440Ter)
c.3826G>T (p.Glu1276Ter)
c.232G>T (p.Glu78Ter)
c.3751G>T (p.Glu1251Ter)
c.7045G>T (p.Glu2349Ter)
c.7282G>T (p.Glu2428Ter)
6g.75119079C=CA1638933333COL12A1c.7318G= (p.Glu2440=)
c.3826G= (p.Glu1276=)
c.232G= (p.Glu78=)
c.3751G= (p.Glu1251=)
c.7045G= (p.Glu2349=)
c.7282G= (p.Glu2428=)
6g.75119079C>GCA364747502COL12A1c.7318G>C (p.Glu2440Gln)
c.3826G>C (p.Glu1276Gln)
c.232G>C (p.Glu78Gln)
c.3751G>C (p.Glu1251Gln)
c.7045G>C (p.Glu2349Gln)
c.7282G>C (p.Glu2428Gln)
6g.75119079C>TCA3892599COL12A1c.7318G>A (p.Glu2440Lys)
c.3826G>A (p.Glu1276Lys)
c.232G>A (p.Glu78Lys)
c.3751G>A (p.Glu1251Lys)
c.7045G>A (p.Glu2349Lys)
c.7282G>A (p.Glu2428Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.75119080A>CCA364747506COL12A1c.7317T>G (p.Asp2439Glu)
c.3825T>G (p.Asp1275Glu)
c.231T>G (p.Asp77Glu)
c.3750T>G (p.Asp1250Glu)
c.7044T>G (p.Asp2348Glu)
c.7281T>G (p.Asp2427Glu)
6g.75119080A>GCA451111341COL12A1c.7317T>C (p.Asp2439=)
c.3825T>C (p.Asp1275=)
c.231T>C (p.Asp77=)
c.3750T>C (p.Asp1250=)
c.7044T>C (p.Asp2348=)
c.7281T>C (p.Asp2427=)
 ClinVar dbSNP
6g.75119080A>TCA364747510COL12A1c.7317T>A (p.Asp2439Glu)
c.3825T>A (p.Asp1275Glu)
c.231T>A (p.Asp77Glu)
c.3750T>A (p.Asp1250Glu)
c.7044T>A (p.Asp2348Glu)
c.7281T>A (p.Asp2427Glu)
6g.75119081T>ACA364747513COL12A1c.7316A>T (p.Asp2439Val)
c.3824A>T (p.Asp1275Val)
c.230A>T (p.Asp77Val)
c.3749A>T (p.Asp1250Val)
c.7043A>T (p.Asp2348Val)
c.7280A>T (p.Asp2427Val)
6g.75119081T>CCA364747516COL12A1c.7316A>G (p.Asp2439Gly)
c.3824A>G (p.Asp1275Gly)
c.230A>G (p.Asp77Gly)
c.3749A>G (p.Asp1250Gly)
c.7043A>G (p.Asp2348Gly)
c.7280A>G (p.Asp2427Gly)
6g.75119081T>GCA364747518COL12A1c.7316A>C (p.Asp2439Ala)
c.3824A>C (p.Asp1275Ala)
c.230A>C (p.Asp77Ala)
c.3749A>C (p.Asp1250Ala)
c.7043A>C (p.Asp2348Ala)
c.7280A>C (p.Asp2427Ala)
6g.75119082C>ACA364747521COL12A1c.7315G>T (p.Asp2439Tyr)
c.3823G>T (p.Asp1275Tyr)
c.229G>T (p.Asp77Tyr)
c.3748G>T (p.Asp1250Tyr)
c.7042G>T (p.Asp2348Tyr)
c.7279G>T (p.Asp2427Tyr)
6g.75119082C>GCA364747522COL12A1c.7315G>C (p.Asp2439His)
c.3823G>C (p.Asp1275His)
c.229G>C (p.Asp77His)
c.3748G>C (p.Asp1250His)
c.7042G>C (p.Asp2348His)
c.7279G>C (p.Asp2427His)
6g.75119082C>TCA364747524COL12A1c.7315G>A (p.Asp2439Asn)
c.3823G>A (p.Asp1275Asn)
c.229G>A (p.Asp77Asn)
c.3748G>A (p.Asp1250Asn)
c.7042G>A (p.Asp2348Asn)
c.7279G>A (p.Asp2427Asn)
6g.75119083C>ACA364747536COL12A1c.7314G>T (p.Gln2438His)
c.3822G>T (p.Gln1274His)
c.228G>T (p.Gln76His)
c.3747G>T (p.Gln1249His)
c.7041G>T (p.Gln2347His)
c.7278G>T (p.Gln2426His)
6g.75119083C>GCA364747527COL12A1c.7314G>C (p.Gln2438His)
c.3822G>C (p.Gln1274His)
c.228G>C (p.Gln76His)
c.3747G>C (p.Gln1249His)
c.7041G>C (p.Gln2347His)
c.7278G>C (p.Gln2426His)
6g.75119083C>TCA451111344COL12A1c.7314G>A (p.Gln2438=)
c.3822G>A (p.Gln1274=)
c.228G>A (p.Gln76=)
c.3747G>A (p.Gln1249=)
c.7041G>A (p.Gln2347=)
c.7278G>A (p.Gln2426=)
 gnomAD v4
6g.75119084T>ACA364747540COL12A1c.7313A>T (p.Gln2438Leu)
c.3821A>T (p.Gln1274Leu)
c.227A>T (p.Gln76Leu)
c.3746A>T (p.Gln1249Leu)
c.7040A>T (p.Gln2347Leu)
c.7277A>T (p.Gln2426Leu)
6g.75119084T>CCA364747543COL12A1c.7313A>G (p.Gln2438Arg)
c.3821A>G (p.Gln1274Arg)
c.227A>G (p.Gln76Arg)
c.3746A>G (p.Gln1249Arg)
c.7040A>G (p.Gln2347Arg)
c.7277A>G (p.Gln2426Arg)
6g.75119084T>GCA364747545COL12A1c.7313A>C (p.Gln2438Pro)
c.3821A>C (p.Gln1274Pro)
c.227A>C (p.Gln76Pro)
c.3746A>C (p.Gln1249Pro)
c.7040A>C (p.Gln2347Pro)
c.7277A>C (p.Gln2426Pro)
6g.75119085G>ACA364747549COL12A1c.7312C>T (p.Gln2438Ter)
c.3820C>T (p.Gln1274Ter)
c.226C>T (p.Gln76Ter)
c.3745C>T (p.Gln1249Ter)
c.7039C>T (p.Gln2347Ter)
c.7276C>T (p.Gln2426Ter)
6g.75119085G>CCA364747551COL12A1c.7312C>G (p.Gln2438Glu)
c.3820C>G (p.Gln1274Glu)
c.226C>G (p.Gln76Glu)
c.3745C>G (p.Gln1249Glu)
c.7039C>G (p.Gln2347Glu)
c.7276C>G (p.Gln2426Glu)
6g.75119085G>TCA364747553COL12A1c.7312C>A (p.Gln2438Lys)
c.3820C>A (p.Gln1274Lys)
c.226C>A (p.Gln76Lys)
c.3745C>A (p.Gln1249Lys)
c.7039C>A (p.Gln2347Lys)
c.7276C>A (p.Gln2426Lys)
6g.75119086G>ACA451111350COL12A1c.7311C>T (p.Ser2437=)
c.3819C>T (p.Ser1273=)
c.225C>T (p.Ser75=)
c.3744C>T (p.Ser1248=)
c.7038C>T (p.Ser2346=)
c.7275C>T (p.Ser2425=)
6g.75119086G>CCA451111349COL12A1c.7311C>G (p.Ser2437=)
c.3819C>G (p.Ser1273=)
c.225C>G (p.Ser75=)
c.3744C>G (p.Ser1248=)
c.7038C>G (p.Ser2346=)
c.7275C>G (p.Ser2425=)
 gnomAD v4
6g.75119086G>TCA451111348COL12A1c.7311C>A (p.Ser2437=)
c.3819C>A (p.Ser1273=)
c.225C>A (p.Ser75=)
c.3744C>A (p.Ser1248=)
c.7038C>A (p.Ser2346=)
c.7275C>A (p.Ser2425=)
6g.75119087G>ACA364747555COL12A1c.7310C>T (p.Ser2437Phe)
c.3818C>T (p.Ser1273Phe)
c.224C>T (p.Ser75Phe)
c.3743C>T (p.Ser1248Phe)
c.7037C>T (p.Ser2346Phe)
c.7274C>T (p.Ser2425Phe)
 COSMIC
6g.75119087G>CCA364747556COL12A1c.7310C>G (p.Ser2437Cys)
c.3818C>G (p.Ser1273Cys)
c.224C>G (p.Ser75Cys)
c.3743C>G (p.Ser1248Cys)
c.7037C>G (p.Ser2346Cys)
c.7274C>G (p.Ser2425Cys)
6g.75119087G>TCA364747557COL12A1c.7310C>A (p.Ser2437Tyr)
c.3818C>A (p.Ser1273Tyr)
c.224C>A (p.Ser75Tyr)
c.3743C>A (p.Ser1248Tyr)
c.7037C>A (p.Ser2346Tyr)
c.7274C>A (p.Ser2425Tyr)
6g.75119088A>CCA364747558COL12A1c.7309T>G (p.Ser2437Ala)
c.3817T>G (p.Ser1273Ala)
c.223T>G (p.Ser75Ala)
c.3742T>G (p.Ser1248Ala)
c.7036T>G (p.Ser2346Ala)
c.7273T>G (p.Ser2425Ala)
6g.75119088A>GCA364747559COL12A1c.7309T>C (p.Ser2437Pro)
c.3817T>C (p.Ser1273Pro)
c.223T>C (p.Ser75Pro)
c.3742T>C (p.Ser1248Pro)
c.7036T>C (p.Ser2346Pro)
c.7273T>C (p.Ser2425Pro)
6g.75119088A>TCA364747560COL12A1c.7309T>A (p.Ser2437Thr)
c.3817T>A (p.Ser1273Thr)
c.223T>A (p.Ser75Thr)
c.3742T>A (p.Ser1248Thr)
c.7036T>A (p.Ser2346Thr)
c.7273T>A (p.Ser2425Thr)
6g.75119089C>ACA451111354COL12A1c.7308G>T (p.Arg2436=)
c.3816G>T (p.Arg1272=)
c.222G>T (p.Arg74=)
c.3741G>T (p.Arg1247=)
c.7035G>T (p.Arg2345=)
c.7272G>T (p.Arg2424=)
6g.75119089C>GCA451111356COL12A1c.7308G>C (p.Arg2436=)
c.3816G>C (p.Arg1272=)
c.222G>C (p.Arg74=)
c.3741G>C (p.Arg1247=)
c.7035G>C (p.Arg2345=)
c.7272G>C (p.Arg2424=)
6g.75119089C>TCA451111355COL12A1c.7308G>A (p.Arg2436=)
c.3816G>A (p.Arg1272=)
c.222G>A (p.Arg74=)
c.3741G>A (p.Arg1247=)
c.7035G>A (p.Arg2345=)
c.7272G>A (p.Arg2424=)
6g.75119090C>ACA364747564COL12A1c.7307G>T (p.Arg2436Leu)
c.3815G>T (p.Arg1272Leu)
c.221G>T (p.Arg74Leu)
c.3740G>T (p.Arg1247Leu)
c.7034G>T (p.Arg2345Leu)
c.7271G>T (p.Arg2424Leu)
6g.75119090C=CA1638933334COL12A1c.7307G= (p.Arg2436=)
c.3815G= (p.Arg1272=)
c.221G= (p.Arg74=)
c.3740G= (p.Arg1247=)
c.7034G= (p.Arg2345=)
c.7271G= (p.Arg2424=)
6g.75119090C>GCA364747565COL12A1c.7307G>C (p.Arg2436Pro)
c.3815G>C (p.Arg1272Pro)
c.221G>C (p.Arg74Pro)
c.3740G>C (p.Arg1247Pro)
c.7034G>C (p.Arg2345Pro)
c.7271G>C (p.Arg2424Pro)
6g.75119090C>TCA364747562COL12A1c.7307G>A (p.Arg2436Gln)
c.3815G>A (p.Arg1272Gln)
c.221G>A (p.Arg74Gln)
c.3740G>A (p.Arg1247Gln)
c.7034G>A (p.Arg2345Gln)
c.7271G>A (p.Arg2424Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.75119091G>ACA3892600COL12A1c.7306C>T (p.Arg2436Trp)
c.3814C>T (p.Arg1272Trp)
c.220C>T (p.Arg74Trp)
c.3739C>T (p.Arg1247Trp)
c.7033C>T (p.Arg2345Trp)
c.7270C>T (p.Arg2424Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119091G>CCA364747566COL12A1c.7306C>G (p.Arg2436Gly)
c.3814C>G (p.Arg1272Gly)
c.220C>G (p.Arg74Gly)
c.3739C>G (p.Arg1247Gly)
c.7033C>G (p.Arg2345Gly)
c.7270C>G (p.Arg2424Gly)
6g.75119091G=CA1638933335COL12A1c.7306C= (p.Arg2436=)
c.3814C= (p.Arg1272=)
c.220C= (p.Arg74=)
c.3739C= (p.Arg1247=)
c.7033C= (p.Arg2345=)
c.7270C= (p.Arg2424=)
6g.75119091G>TCA451111360COL12A1c.7306C>A (p.Arg2436=)
c.3814C>A (p.Arg1272=)
c.220C>A (p.Arg74=)
c.3739C>A (p.Arg1247=)
c.7033C>A (p.Arg2345=)
c.7270C>A (p.Arg2424=)
 gnomAD v4
6g.75119092A>CCA451111361COL12A1c.7305T>G (p.Gly2435=)
c.3813T>G (p.Gly1271=)
c.219T>G (p.Gly73=)
c.3738T>G (p.Gly1246=)
c.7032T>G (p.Gly2344=)
c.7269T>G (p.Gly2423=)
6g.75119092A>GCA451111362COL12A1c.7305T>C (p.Gly2435=)
c.3813T>C (p.Gly1271=)
c.219T>C (p.Gly73=)
c.3738T>C (p.Gly1246=)
c.7032T>C (p.Gly2344=)
c.7269T>C (p.Gly2423=)
 COSMIC
6g.75119092A>TCA451111363COL12A1c.7305T>A (p.Gly2435=)
c.3813T>A (p.Gly1271=)
c.219T>A (p.Gly73=)
c.3738T>A (p.Gly1246=)
c.7032T>A (p.Gly2344=)
c.7269T>A (p.Gly2423=)
6g.75119093C>ACA364747569COL12A1c.7304G>T (p.Gly2435Val)
c.3812G>T (p.Gly1271Val)
c.218G>T (p.Gly73Val)
c.3737G>T (p.Gly1246Val)
c.7031G>T (p.Gly2344Val)
c.7268G>T (p.Gly2423Val)
6g.75119093C>GCA364747572COL12A1c.7304G>C (p.Gly2435Ala)
c.3812G>C (p.Gly1271Ala)
c.218G>C (p.Gly73Ala)
c.3737G>C (p.Gly1246Ala)
c.7031G>C (p.Gly2344Ala)
c.7268G>C (p.Gly2423Ala)
6g.75119093C>TCA364747576COL12A1c.7304G>A (p.Gly2435Asp)
c.3812G>A (p.Gly1271Asp)
c.218G>A (p.Gly73Asp)
c.3737G>A (p.Gly1246Asp)
c.7031G>A (p.Gly2344Asp)
c.7268G>A (p.Gly2423Asp)
6g.75119094C>ACA364747584COL12A1c.7303G>T (p.Gly2435Cys)
c.3811G>T (p.Gly1271Cys)
c.217G>T (p.Gly73Cys)
c.3736G>T (p.Gly1246Cys)
c.7030G>T (p.Gly2344Cys)
c.7267G>T (p.Gly2423Cys)
 COSMIC
6g.75119094C>GCA364747578COL12A1c.7303G>C (p.Gly2435Arg)
c.3811G>C (p.Gly1271Arg)
c.217G>C (p.Gly73Arg)
c.3736G>C (p.Gly1246Arg)
c.7030G>C (p.Gly2344Arg)
c.7267G>C (p.Gly2423Arg)
 COSMIC
6g.75119094C>TCA364747581COL12A1c.7303G>A (p.Gly2435Ser)
c.3811G>A (p.Gly1271Ser)
c.217G>A (p.Gly73Ser)
c.3736G>A (p.Gly1246Ser)
c.7030G>A (p.Gly2344Ser)
c.7267G>A (p.Gly2423Ser)
 ClinVar dbSNP COSMIC
6g.75119095G>ACA3892601COL12A1c.7302C>T (p.Asp2434=)
c.3810C>T (p.Asp1270=)
c.216C>T (p.Asp72=)
c.3735C>T (p.Asp1245=)
c.7029C>T (p.Asp2343=)
c.7266C>T (p.Asp2422=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119095G>CCA364747589COL12A1c.7302C>G (p.Asp2434Glu)
c.3810C>G (p.Asp1270Glu)
c.216C>G (p.Asp72Glu)
c.3735C>G (p.Asp1245Glu)
c.7029C>G (p.Asp2343Glu)
c.7266C>G (p.Asp2422Glu)
6g.75119095G=CA1638933336COL12A1c.7302C= (p.Asp2434=)
c.3810C= (p.Asp1270=)
c.216C= (p.Asp72=)
c.3735C= (p.Asp1245=)
c.7029C= (p.Asp2343=)
c.7266C= (p.Asp2422=)
6g.75119095G>TCA364747593COL12A1c.7302C>A (p.Asp2434Glu)
c.3810C>A (p.Asp1270Glu)
c.216C>A (p.Asp72Glu)
c.3735C>A (p.Asp1245Glu)
c.7029C>A (p.Asp2343Glu)
c.7266C>A (p.Asp2422Glu)
6g.75119096T>ACA364747595COL12A1c.7301A>T (p.Asp2434Val)
c.3809A>T (p.Asp1270Val)
c.215A>T (p.Asp72Val)
c.3734A>T (p.Asp1245Val)
c.7028A>T (p.Asp2343Val)
c.7265A>T (p.Asp2422Val)
6g.75119096T>CCA364747598COL12A1c.7301A>G (p.Asp2434Gly)
c.3809A>G (p.Asp1270Gly)
c.215A>G (p.Asp72Gly)
c.3734A>G (p.Asp1245Gly)
c.7028A>G (p.Asp2343Gly)
c.7265A>G (p.Asp2422Gly)
6g.75119096T>GCA364747602COL12A1c.7301A>C (p.Asp2434Ala)
c.3809A>C (p.Asp1270Ala)
c.215A>C (p.Asp72Ala)
c.3734A>C (p.Asp1245Ala)
c.7028A>C (p.Asp2343Ala)
c.7265A>C (p.Asp2422Ala)
6g.75119097C>ACA364747610COL12A1c.7300G>T (p.Asp2434Tyr)
c.3808G>T (p.Asp1270Tyr)
c.214G>T (p.Asp72Tyr)
c.3733G>T (p.Asp1245Tyr)
c.7027G>T (p.Asp2343Tyr)
c.7264G>T (p.Asp2422Tyr)
6g.75119097C>GCA364747606COL12A1c.7300G>C (p.Asp2434His)
c.3808G>C (p.Asp1270His)
c.214G>C (p.Asp72His)
c.3733G>C (p.Asp1245His)
c.7027G>C (p.Asp2343His)
c.7264G>C (p.Asp2422His)
6g.75119097C>TCA364747604COL12A1c.7300G>A (p.Asp2434Asn)
c.3808G>A (p.Asp1270Asn)
c.214G>A (p.Asp72Asn)
c.3733G>A (p.Asp1245Asn)
c.7027G>A (p.Asp2343Asn)
c.7264G>A (p.Asp2422Asn)
6g.75119098C>ACA3892602COL12A1c.7299G>T (p.Thr2433=)
c.3807G>T (p.Thr1269=)
c.213G>T (p.Thr71=)
c.3732G>T (p.Thr1244=)
c.7026G>T (p.Thr2342=)
c.7263G>T (p.Thr2421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119098C=CA1638933337COL12A1c.7299G= (p.Thr2433=)
c.3807G= (p.Thr1269=)
c.213G= (p.Thr71=)
c.3732G= (p.Thr1244=)
c.7026G= (p.Thr2342=)
c.7263G= (p.Thr2421=)
6g.75119098C>GCA451111367COL12A1c.7299G>C (p.Thr2433=)
c.3807G>C (p.Thr1269=)
c.213G>C (p.Thr71=)
c.3732G>C (p.Thr1244=)
c.7026G>C (p.Thr2342=)
c.7263G>C (p.Thr2421=)
6g.75119098C>TCA3892603COL12A1c.7299G>A (p.Thr2433=)
c.3807G>A (p.Thr1269=)
c.213G>A (p.Thr71=)
c.3732G>A (p.Thr1244=)
c.7026G>A (p.Thr2342=)
c.7263G>A (p.Thr2421=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119099G>ACA364747619COL12A1c.7298C>T (p.Thr2433Met)
c.3806C>T (p.Thr1269Met)
c.212C>T (p.Thr71Met)
c.3731C>T (p.Thr1244Met)
c.7025C>T (p.Thr2342Met)
c.7262C>T (p.Thr2421Met)
 ClinVar dbSNP gnomAD v4
6g.75119099G>CCA364747622COL12A1c.7298C>G (p.Thr2433Arg)
c.3806C>G (p.Thr1269Arg)
c.212C>G (p.Thr71Arg)
c.3731C>G (p.Thr1244Arg)
c.7025C>G (p.Thr2342Arg)
c.7262C>G (p.Thr2421Arg)
6g.75119099G=CA1638933338COL12A1c.7298C= (p.Thr2433=)
c.3806C= (p.Thr1269=)
c.212C= (p.Thr71=)
c.3731C= (p.Thr1244=)
c.7025C= (p.Thr2342=)
c.7262C= (p.Thr2421=)
6g.75119099G>TCA364747624COL12A1c.7298C>A (p.Thr2433Lys)
c.3806C>A (p.Thr1269Lys)
c.212C>A (p.Thr71Lys)
c.3731C>A (p.Thr1244Lys)
c.7025C>A (p.Thr2342Lys)
c.7262C>A (p.Thr2421Lys)
6g.75119100T>ACA364747627COL12A1c.7297A>T (p.Thr2433Ser)
c.3805A>T (p.Thr1269Ser)
c.211A>T (p.Thr71Ser)
c.3730A>T (p.Thr1244Ser)
c.7024A>T (p.Thr2342Ser)
c.7261A>T (p.Thr2421Ser)
6g.75119100T>CCA364747630COL12A1c.7297A>G (p.Thr2433Ala)
c.3805A>G (p.Thr1269Ala)
c.211A>G (p.Thr71Ala)
c.3730A>G (p.Thr1244Ala)
c.7024A>G (p.Thr2342Ala)
c.7261A>G (p.Thr2421Ala)
6g.75119100T>GCA364747632COL12A1c.7297A>C (p.Thr2433Pro)
c.3805A>C (p.Thr1269Pro)
c.211A>C (p.Thr71Pro)
c.3730A>C (p.Thr1244Pro)
c.7024A>C (p.Thr2342Pro)
c.7261A>C (p.Thr2421Pro)
6g.75119101G>ACA451111368COL12A1c.7296C>T (p.Val2432=)
c.3804C>T (p.Val1268=)
c.210C>T (p.Val70=)
c.3729C>T (p.Val1243=)
c.7023C>T (p.Val2341=)
c.7260C>T (p.Val2420=)
 dbSNP gnomAD v4
6g.75119101G>CCA451111369COL12A1c.7296C>G (p.Val2432=)
c.3804C>G (p.Val1268=)
c.210C>G (p.Val70=)
c.3729C>G (p.Val1243=)
c.7023C>G (p.Val2341=)
c.7260C>G (p.Val2420=)
6g.75119101G=CA1638933339COL12A1c.7296C= (p.Val2432=)
c.3804C= (p.Val1268=)
c.210C= (p.Val70=)
c.3729C= (p.Val1243=)
c.7023C= (p.Val2341=)
c.7260C= (p.Val2420=)
6g.75119101G>TCA451111370COL12A1c.7296C>A (p.Val2432=)
c.3804C>A (p.Val1268=)
c.210C>A (p.Val70=)
c.3729C>A (p.Val1243=)
c.7023C>A (p.Val2341=)
c.7260C>A (p.Val2420=)
 COSMIC
6g.75119102A=CA1638933340COL12A1c.7295T= (p.Val2432=)
c.3803T= (p.Val1268=)
c.209T= (p.Val70=)
c.3728T= (p.Val1243=)
c.7022T= (p.Val2341=)
c.7259T= (p.Val2420=)
6g.75119102A>CCA364747638COL12A1c.7295T>G (p.Val2432Gly)
c.3803T>G (p.Val1268Gly)
c.209T>G (p.Val70Gly)
c.3728T>G (p.Val1243Gly)
c.7022T>G (p.Val2341Gly)
c.7259T>G (p.Val2420Gly)
6g.75119102A>GCA364747641COL12A1c.7295T>C (p.Val2432Ala)
c.3803T>C (p.Val1268Ala)
c.209T>C (p.Val70Ala)
c.3728T>C (p.Val1243Ala)
c.7022T>C (p.Val2341Ala)
c.7259T>C (p.Val2420Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.75119102A>TCA364747645COL12A1c.7295T>A (p.Val2432Asp)
c.3803T>A (p.Val1268Asp)
c.209T>A (p.Val70Asp)
c.3728T>A (p.Val1243Asp)
c.7022T>A (p.Val2341Asp)
c.7259T>A (p.Val2420Asp)
6g.75119103C>ACA364747653COL12A1c.7294G>T (p.Val2432Phe)
c.3802G>T (p.Val1268Phe)
c.208G>T (p.Val70Phe)
c.3727G>T (p.Val1243Phe)
c.7021G>T (p.Val2341Phe)
c.7258G>T (p.Val2420Phe)
6g.75119103C>GCA364747654COL12A1c.7294G>C (p.Val2432Leu)
c.3802G>C (p.Val1268Leu)
c.208G>C (p.Val70Leu)
c.3727G>C (p.Val1243Leu)
c.7021G>C (p.Val2341Leu)
c.7258G>C (p.Val2420Leu)
6g.75119103C>TCA364747655COL12A1c.7294G>A (p.Val2432Ile)
c.3802G>A (p.Val1268Ile)
c.208G>A (p.Val70Ile)
c.3727G>A (p.Val1243Ile)
c.7021G>A (p.Val2341Ile)
c.7258G>A (p.Val2420Ile)
6g.75119104C>ACA451111371COL12A1c.7293G>T (p.Val2431=)
c.3801G>T (p.Val1267=)
c.207G>T (p.Val69=)
c.3726G>T (p.Val1242=)
c.7020G>T (p.Val2340=)
c.7257G>T (p.Val2419=)
6g.75119104C>GCA451111373COL12A1c.7293G>C (p.Val2431=)
c.3801G>C (p.Val1267=)
c.207G>C (p.Val69=)
c.3726G>C (p.Val1242=)
c.7020G>C (p.Val2340=)
c.7257G>C (p.Val2419=)
6g.75119104C>TCA451111372COL12A1c.7293G>A (p.Val2431=)
c.3801G>A (p.Val1267=)
c.207G>A (p.Val69=)
c.3726G>A (p.Val1242=)
c.7020G>A (p.Val2340=)
c.7257G>A (p.Val2419=)
6g.75119105A=CA1638933341COL12A1c.7292T= (p.Val2431=)
c.3800T= (p.Val1267=)
c.206T= (p.Val69=)
c.3725T= (p.Val1242=)
c.7019T= (p.Val2340=)
c.7256T= (p.Val2419=)
6g.75119105A>CCA364747668COL12A1c.7292T>G (p.Val2431Gly)
c.3800T>G (p.Val1267Gly)
c.206T>G (p.Val69Gly)
c.3725T>G (p.Val1242Gly)
c.7019T>G (p.Val2340Gly)
c.7256T>G (p.Val2419Gly)
6g.75119105A>GCA364747664COL12A1c.7292T>C (p.Val2431Ala)
c.3800T>C (p.Val1267Ala)
c.206T>C (p.Val69Ala)
c.3725T>C (p.Val1242Ala)
c.7019T>C (p.Val2340Ala)
c.7256T>C (p.Val2419Ala)
 ClinVar dbSNP
6g.75119105A>TCA364747661COL12A1c.7292T>A (p.Val2431Glu)
c.3800T>A (p.Val1267Glu)
c.206T>A (p.Val69Glu)
c.3725T>A (p.Val1242Glu)
c.7019T>A (p.Val2340Glu)
c.7256T>A (p.Val2419Glu)
6g.75119106C>ACA364747683COL12A1c.7291G>T (p.Val2431Leu)
c.3799G>T (p.Val1267Leu)
c.205G>T (p.Val69Leu)
c.3724G>T (p.Val1242Leu)
c.7018G>T (p.Val2340Leu)
c.7255G>T (p.Val2419Leu)
6g.75119106C>GCA364747686COL12A1c.7291G>C (p.Val2431Leu)
c.3799G>C (p.Val1267Leu)
c.205G>C (p.Val69Leu)
c.3724G>C (p.Val1242Leu)
c.7018G>C (p.Val2340Leu)
c.7255G>C (p.Val2419Leu)
6g.75119106C>TCA364747690COL12A1c.7291G>A (p.Val2431Met)
c.3799G>A (p.Val1267Met)
c.205G>A (p.Val69Met)
c.3724G>A (p.Val1242Met)
c.7018G>A (p.Val2340Met)
c.7255G>A (p.Val2419Met)
6g.75119107A>CCA451111374COL12A1c.7290T>G (p.Val2430=)
c.3798T>G (p.Val1266=)
c.204T>G (p.Val68=)
c.3723T>G (p.Val1241=)
c.7017T>G (p.Val2339=)
c.7254T>G (p.Val2418=)
 gnomAD v4
6g.75119107A>GCA451111375COL12A1c.7290T>C (p.Val2430=)
c.3798T>C (p.Val1266=)
c.204T>C (p.Val68=)
c.3723T>C (p.Val1241=)
c.7017T>C (p.Val2339=)
c.7254T>C (p.Val2418=)
6g.75119107A>TCA451111376COL12A1c.7290T>A (p.Val2430=)
c.3798T>A (p.Val1266=)
c.204T>A (p.Val68=)
c.3723T>A (p.Val1241=)
c.7017T>A (p.Val2339=)
c.7254T>A (p.Val2418=)
6g.75119108A>CCA364747696COL12A1c.7289T>G (p.Val2430Gly)
c.3797T>G (p.Val1266Gly)
c.203T>G (p.Val68Gly)
c.3722T>G (p.Val1241Gly)
c.7016T>G (p.Val2339Gly)
c.7253T>G (p.Val2418Gly)
6g.75119108A>GCA364747698COL12A1c.7289T>C (p.Val2430Ala)
c.3797T>C (p.Val1266Ala)
c.203T>C (p.Val68Ala)
c.3722T>C (p.Val1241Ala)
c.7016T>C (p.Val2339Ala)
c.7253T>C (p.Val2418Ala)
 gnomAD v4
6g.75119108A>TCA364747699COL12A1c.7289T>A (p.Val2430Asp)
c.3797T>A (p.Val1266Asp)
c.203T>A (p.Val68Asp)
c.3722T>A (p.Val1241Asp)
c.7016T>A (p.Val2339Asp)
c.7253T>A (p.Val2418Asp)
6g.75119109C>ACA364747702COL12A1c.7288G>T (p.Val2430Phe)
c.3796G>T (p.Val1266Phe)
c.202G>T (p.Val68Phe)
c.3721G>T (p.Val1241Phe)
c.7015G>T (p.Val2339Phe)
c.7252G>T (p.Val2418Phe)
 ClinVar
6g.75119109C>GCA364747706COL12A1c.7288G>C (p.Val2430Leu)
c.3796G>C (p.Val1266Leu)
c.202G>C (p.Val68Leu)
c.3721G>C (p.Val1241Leu)
c.7015G>C (p.Val2339Leu)
c.7252G>C (p.Val2418Leu)
6g.75119109C>TCA364747707COL12A1c.7288G>A (p.Val2430Ile)
c.3796G>A (p.Val1266Ile)
c.202G>A (p.Val68Ile)
c.3721G>A (p.Val1241Ile)
c.7015G>A (p.Val2339Ile)
c.7252G>A (p.Val2418Ile)
6g.75119110C>ACA364747710COL12A1c.7287G>T (p.Leu2429Phe)
c.3795G>T (p.Leu1265Phe)
c.201G>T (p.Leu67Phe)
c.3720G>T (p.Leu1240Phe)
c.7014G>T (p.Leu2338Phe)
c.7251G>T (p.Leu2417Phe)
6g.75119110C>GCA364747712COL12A1c.7287G>C (p.Leu2429Phe)
c.3795G>C (p.Leu1265Phe)
c.201G>C (p.Leu67Phe)
c.3720G>C (p.Leu1240Phe)
c.7014G>C (p.Leu2338Phe)
c.7251G>C (p.Leu2417Phe)
6g.75119110C>TCA451111377COL12A1c.7287G>A (p.Leu2429=)
c.3795G>A (p.Leu1265=)
c.201G>A (p.Leu67=)
c.3720G>A (p.Leu1240=)
c.7014G>A (p.Leu2338=)
c.7251G>A (p.Leu2417=)
6g.75119111A>CCA364747716COL12A1c.7286T>G (p.Leu2429Trp)
c.3794T>G (p.Leu1265Trp)
c.200T>G (p.Leu67Trp)
c.3719T>G (p.Leu1240Trp)
c.7013T>G (p.Leu2338Trp)
c.7250T>G (p.Leu2417Trp)
6g.75119111A>GCA364747719COL12A1c.7286T>C (p.Leu2429Ser)
c.3794T>C (p.Leu1265Ser)
c.200T>C (p.Leu67Ser)
c.3719T>C (p.Leu1240Ser)
c.7013T>C (p.Leu2338Ser)
c.7250T>C (p.Leu2417Ser)
 gnomAD v4
6g.75119111A>TCA364747722COL12A1c.7286T>A (p.Leu2429Ter)
c.3794T>A (p.Leu1265Ter)
c.200T>A (p.Leu67Ter)
c.3719T>A (p.Leu1240Ter)
c.7013T>A (p.Leu2338Ter)
c.7250T>A (p.Leu2417Ter)
6g.75119112A=CA1638933342COL12A1c.7285T= (p.Leu2429=)
c.3793T= (p.Leu1265=)
c.199T= (p.Leu67=)
c.3718T= (p.Leu1240=)
c.7012T= (p.Leu2338=)
c.7249T= (p.Leu2417=)
6g.75119112A>CCA364747730COL12A1c.7285T>G (p.Leu2429Val)
c.3793T>G (p.Leu1265Val)
c.199T>G (p.Leu67Val)
c.3718T>G (p.Leu1240Val)
c.7012T>G (p.Leu2338Val)
c.7249T>G (p.Leu2417Val)
6g.75119112A>GCA3892604COL12A1c.7285T>C (p.Leu2429=)
c.3793T>C (p.Leu1265=)
c.199T>C (p.Leu67=)
c.3718T>C (p.Leu1240=)
c.7012T>C (p.Leu2338=)
c.7249T>C (p.Leu2417=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119112A>TCA364747726COL12A1c.7285T>A (p.Leu2429Met)
c.3793T>A (p.Leu1265Met)
c.199T>A (p.Leu67Met)
c.3718T>A (p.Leu1240Met)
c.7012T>A (p.Leu2338Met)
c.7249T>A (p.Leu2417Met)
6g.75119113C>ACA451111378COL12A1c.7284G>T (p.Val2428=)
c.3792G>T (p.Val1264=)
c.198G>T (p.Val66=)
c.3717G>T (p.Val1239=)
c.7011G>T (p.Val2337=)
c.7248G>T (p.Val2416=)
6g.75119113C>GCA451111379COL12A1c.7284G>C (p.Val2428=)
c.3792G>C (p.Val1264=)
c.198G>C (p.Val66=)
c.3717G>C (p.Val1239=)
c.7011G>C (p.Val2337=)
c.7248G>C (p.Val2416=)
6g.75119113C>TCA451111380COL12A1c.7284G>A (p.Val2428=)
c.3792G>A (p.Val1264=)
c.198G>A (p.Val66=)
c.3717G>A (p.Val1239=)
c.7011G>A (p.Val2337=)
c.7248G>A (p.Val2416=)
6g.75119114A>CCA364747737COL12A1c.7283T>G (p.Val2428Gly)
c.3791T>G (p.Val1264Gly)
c.197T>G (p.Val66Gly)
c.3716T>G (p.Val1239Gly)
c.7010T>G (p.Val2337Gly)
c.7247T>G (p.Val2416Gly)
6g.75119114A>GCA364747739COL12A1c.7283T>C (p.Val2428Ala)
c.3791T>C (p.Val1264Ala)
c.197T>C (p.Val66Ala)
c.3716T>C (p.Val1239Ala)
c.7010T>C (p.Val2337Ala)
c.7247T>C (p.Val2416Ala)
6g.75119114A>TCA364747741COL12A1c.7283T>A (p.Val2428Glu)
c.3791T>A (p.Val1264Glu)
c.197T>A (p.Val66Glu)
c.3716T>A (p.Val1239Glu)
c.7010T>A (p.Val2337Glu)
c.7247T>A (p.Val2416Glu)
6g.75119115C>ACA364747744COL12A1c.7282G>T (p.Val2428Leu)
c.3790G>T (p.Val1264Leu)
c.196G>T (p.Val66Leu)
c.3715G>T (p.Val1239Leu)
c.7009G>T (p.Val2337Leu)
c.7246G>T (p.Val2416Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.75119115C=CA1638933343COL12A1c.7282G= (p.Val2428=)
c.3790G= (p.Val1264=)
c.196G= (p.Val66=)
c.3715G= (p.Val1239=)
c.7009G= (p.Val2337=)
c.7246G= (p.Val2416=)
6g.75119115C>GCA364747745COL12A1c.7282G>C (p.Val2428Leu)
c.3790G>C (p.Val1264Leu)
c.196G>C (p.Val66Leu)
c.3715G>C (p.Val1239Leu)
c.7009G>C (p.Val2337Leu)
c.7246G>C (p.Val2416Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.75119115C>TCA364747748COL12A1c.7282G>A (p.Val2428Met)
c.3790G>A (p.Val1264Met)
c.196G>A (p.Val66Met)
c.3715G>A (p.Val1239Met)
c.7009G>A (p.Val2337Met)
c.7246G>A (p.Val2416Met)
 gnomAD v4
6g.75119116C>ACA364747754COL12A1c.7281G>T (p.Lys2427Asn)
c.3789G>T (p.Lys1263Asn)
c.195G>T (p.Lys65Asn)
c.3714G>T (p.Lys1238Asn)
c.7008G>T (p.Lys2336Asn)
c.7245G>T (p.Lys2415Asn)
 COSMIC
6g.75119116C=CA1638933344COL12A1c.7281G= (p.Lys2427=)
c.3789G= (p.Lys1263=)
c.195G= (p.Lys65=)
c.3714G= (p.Lys1238=)
c.7008G= (p.Lys2336=)
c.7245G= (p.Lys2415=)
6g.75119116C>GCA364747751COL12A1c.7281G>C (p.Lys2427Asn)
c.3789G>C (p.Lys1263Asn)
c.195G>C (p.Lys65Asn)
c.3714G>C (p.Lys1238Asn)
c.7008G>C (p.Lys2336Asn)
c.7245G>C (p.Lys2415Asn)
6g.75119116C>TCA141013878COL12A1c.7281G>A (p.Lys2427=)
c.3789G>A (p.Lys1263=)
c.195G>A (p.Lys65=)
c.3714G>A (p.Lys1238=)
c.7008G>A (p.Lys2336=)
c.7245G>A (p.Lys2415=)
 dbSNP
6g.75119117T>ACA364747757COL12A1c.7280A>T (p.Lys2427Met)
c.3788A>T (p.Lys1263Met)
c.194A>T (p.Lys65Met)
c.3713A>T (p.Lys1238Met)
c.7007A>T (p.Lys2336Met)
c.7244A>T (p.Lys2415Met)
6g.75119117T>CCA364747774COL12A1c.7280A>G (p.Lys2427Arg)
c.3788A>G (p.Lys1263Arg)
c.194A>G (p.Lys65Arg)
c.3713A>G (p.Lys1238Arg)
c.7007A>G (p.Lys2336Arg)
c.7244A>G (p.Lys2415Arg)
 gnomAD v4
6g.75119117T>GCA364747780COL12A1c.7280A>C (p.Lys2427Thr)
c.3788A>C (p.Lys1263Thr)
c.194A>C (p.Lys65Thr)
c.3713A>C (p.Lys1238Thr)
c.7007A>C (p.Lys2336Thr)
c.7244A>C (p.Lys2415Thr)
 gnomAD v4
6g.75119118T>ACA364747784COL12A1c.7279A>T (p.Lys2427Ter)
c.3787A>T (p.Lys1263Ter)
c.193A>T (p.Lys65Ter)
c.3712A>T (p.Lys1238Ter)
c.7006A>T (p.Lys2336Ter)
c.7243A>T (p.Lys2415Ter)
6g.75119118T>CCA364747788COL12A1c.7279A>G (p.Lys2427Glu)
c.3787A>G (p.Lys1263Glu)
c.193A>G (p.Lys65Glu)
c.3712A>G (p.Lys1238Glu)
c.7006A>G (p.Lys2336Glu)
c.7243A>G (p.Lys2415Glu)
6g.75119118T>GCA364747792COL12A1c.7279A>C (p.Lys2427Gln)
c.3787A>C (p.Lys1263Gln)
c.193A>C (p.Lys65Gln)
c.3712A>C (p.Lys1238Gln)
c.7006A>C (p.Lys2336Gln)
c.7243A>C (p.Lys2415Gln)
6g.75119119A>CCA451111381COL12A1c.7278T>G (p.Pro2426=)
c.3786T>G (p.Pro1262=)
c.192T>G (p.Pro64=)
c.3711T>G (p.Pro1237=)
c.7005T>G (p.Pro2335=)
c.7242T>G (p.Pro2414=)
6g.75119119A>GCA451111382COL12A1c.7278T>C (p.Pro2426=)
c.3786T>C (p.Pro1262=)
c.192T>C (p.Pro64=)
c.3711T>C (p.Pro1237=)
c.7005T>C (p.Pro2335=)
c.7242T>C (p.Pro2414=)
6g.75119119A>TCA451111383COL12A1c.7278T>A (p.Pro2426=)
c.3786T>A (p.Pro1262=)
c.192T>A (p.Pro64=)
c.3711T>A (p.Pro1237=)
c.7005T>A (p.Pro2335=)
c.7242T>A (p.Pro2414=)
6g.75119120G>ACA3892605COL12A1c.7277C>T (p.Pro2426Leu)
c.3785C>T (p.Pro1262Leu)
c.191C>T (p.Pro64Leu)
c.3710C>T (p.Pro1237Leu)
c.7004C>T (p.Pro2335Leu)
c.7241C>T (p.Pro2414Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75119120G>CCA3892606COL12A1c.7277C>G (p.Pro2426Arg)
c.3785C>G (p.Pro1262Arg)
c.191C>G (p.Pro64Arg)
c.3710C>G (p.Pro1237Arg)
c.7004C>G (p.Pro2335Arg)
c.7241C>G (p.Pro2414Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.75119120G=CA1638933345COL12A1c.7277C= (p.Pro2426=)
c.3785C= (p.Pro1262=)
c.191C= (p.Pro64=)
c.3710C= (p.Pro1237=)
c.7004C= (p.Pro2335=)
c.7241C= (p.Pro2414=)
6g.75119120G>TCA364747798COL12A1c.7277C>A (p.Pro2426His)
c.3785C>A (p.Pro1262His)
c.191C>A (p.Pro64His)
c.3710C>A (p.Pro1237His)
c.7004C>A (p.Pro2335His)
c.7241C>A (p.Pro2414His)
6g.75119122delCA2679420349COL12A1c.7277del (p.Pro2426LeufsTer?)
c.3785del (p.Pro1262LeufsTer?)
c.191del (p.Pro64LeufsTer?)
c.3710del (p.Pro1237LeufsTer?)
c.7004del (p.Pro2335LeufsTer?)
c.7241del (p.Pro2414LeufsTer?)
 gnomAD v4
6g.75119121G>ACA3892607COL12A1c.7276C>T (p.Pro2426Ser)
c.3784C>T (p.Pro1262Ser)
c.190C>T (p.Pro64Ser)
c.3709C>T (p.Pro1237Ser)
c.7003C>T (p.Pro2335Ser)
c.7240C>T (p.Pro2414Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119121G>CCA364747805COL12A1c.7276C>G (p.Pro2426Ala)
c.3784C>G (p.Pro1262Ala)
c.190C>G (p.Pro64Ala)
c.3709C>G (p.Pro1237Ala)
c.7003C>G (p.Pro2335Ala)
c.7240C>G (p.Pro2414Ala)
6g.75119121G=CA1638933346COL12A1c.7276C= (p.Pro2426=)
c.3784C= (p.Pro1262=)
c.190C= (p.Pro64=)
c.3709C= (p.Pro1237=)
c.7003C= (p.Pro2335=)
c.7240C= (p.Pro2414=)
6g.75119121G>TCA364747807COL12A1c.7276C>A (p.Pro2426Thr)
c.3784C>A (p.Pro1262Thr)
c.190C>A (p.Pro64Thr)
c.3709C>A (p.Pro1237Thr)
c.7003C>A (p.Pro2335Thr)
c.7240C>A (p.Pro2414Thr)
6g.75119122G>ACA451111384COL12A1c.7275C>T (p.Val2425=)
c.3783C>T (p.Val1261=)
c.189C>T (p.Val63=)
c.3708C>T (p.Val1236=)
c.7002C>T (p.Val2334=)
c.7239C>T (p.Val2413=)
 gnomAD v4
6g.75119122G>CCA451111385COL12A1c.7275C>G (p.Val2425=)
c.3783C>G (p.Val1261=)
c.189C>G (p.Val63=)
c.3708C>G (p.Val1236=)
c.7002C>G (p.Val2334=)
c.7239C>G (p.Val2413=)
6g.75119122G>TCA451111386COL12A1c.7275C>A (p.Val2425=)
c.3783C>A (p.Val1261=)
c.189C>A (p.Val63=)
c.3708C>A (p.Val1236=)
c.7002C>A (p.Val2334=)
c.7239C>A (p.Val2413=)
6g.75119123A=CA1638933347COL12A1c.7274T= (p.Val2425=)
c.3782T= (p.Val1261=)
c.188T= (p.Val63=)
c.3707T= (p.Val1236=)
c.7001T= (p.Val2334=)
c.7238T= (p.Val2413=)
6g.75119123A>CCA364747809COL12A1c.7274T>G (p.Val2425Gly)
c.3782T>G (p.Val1261Gly)
c.188T>G (p.Val63Gly)
c.3707T>G (p.Val1236Gly)
c.7001T>G (p.Val2334Gly)
c.7238T>G (p.Val2413Gly)
 dbSNP gnomAD v4
6g.75119123A>GCA364747811COL12A1c.7274T>C (p.Val2425Ala)
c.3782T>C (p.Val1261Ala)
c.188T>C (p.Val63Ala)
c.3707T>C (p.Val1236Ala)
c.7001T>C (p.Val2334Ala)
c.7238T>C (p.Val2413Ala)
6g.75119123A>TCA364747813COL12A1c.7274T>A (p.Val2425Asp)
c.3782T>A (p.Val1261Asp)
c.188T>A (p.Val63Asp)
c.3707T>A (p.Val1236Asp)
c.7001T>A (p.Val2334Asp)
c.7238T>A (p.Val2413Asp)
6g.75119124C>ACA364747817COL12A1c.7273G>T (p.Val2425Phe)
c.3781G>T (p.Val1261Phe)
c.187G>T (p.Val63Phe)
c.3706G>T (p.Val1236Phe)
c.7000G>T (p.Val2334Phe)
c.7237G>T (p.Val2413Phe)
6g.75119124C>GCA364747825COL12A1c.7273G>C (p.Val2425Leu)
c.3781G>C (p.Val1261Leu)
c.187G>C (p.Val63Leu)
c.3706G>C (p.Val1236Leu)
c.7000G>C (p.Val2334Leu)
c.7237G>C (p.Val2413Leu)
6g.75119124C>TCA364747827COL12A1c.7273G>A (p.Val2425Ile)
c.3781G>A (p.Val1261Ile)
c.187G>A (p.Val63Ile)
c.3706G>A (p.Val1236Ile)
c.7000G>A (p.Val2334Ile)
c.7237G>A (p.Val2413Ile)
6g.75119125A>CCA364747830COL12A1c.7272T>G (p.Asn2424Lys)
c.3780T>G (p.Asn1260Lys)
c.186T>G (p.Asn62Lys)
c.3705T>G (p.Asn1235Lys)
c.6999T>G (p.Asn2333Lys)
c.7236T>G (p.Asn2412Lys)
6g.75119125A>GCA451111387COL12A1c.7272T>C (p.Asn2424=)
c.3780T>C (p.Asn1260=)
c.186T>C (p.Asn62=)
c.3705T>C (p.Asn1235=)
c.6999T>C (p.Asn2333=)
c.7236T>C (p.Asn2412=)
 ClinVar
6g.75119125A>TCA364747832COL12A1c.7272T>A (p.Asn2424Lys)
c.3780T>A (p.Asn1260Lys)
c.186T>A (p.Asn62Lys)
c.3705T>A (p.Asn1235Lys)
c.6999T>A (p.Asn2333Lys)
c.7236T>A (p.Asn2412Lys)
6g.75119126T>ACA364747839COL12A1c.7271A>T (p.Asn2424Ile)
c.3779A>T (p.Asn1260Ile)
c.185A>T (p.Asn62Ile)
c.3704A>T (p.Asn1235Ile)
c.6998A>T (p.Asn2333Ile)
c.7235A>T (p.Asn2412Ile)
6g.75119126T>CCA364747846COL12A1c.7271A>G (p.Asn2424Ser)
c.3779A>G (p.Asn1260Ser)
c.185A>G (p.Asn62Ser)
c.3704A>G (p.Asn1235Ser)
c.6998A>G (p.Asn2333Ser)
c.7235A>G (p.Asn2412Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.75119126T>GCA364747836COL12A1c.7271A>C (p.Asn2424Thr)
c.3779A>C (p.Asn1260Thr)
c.185A>C (p.Asn62Thr)
c.3704A>C (p.Asn1235Thr)
c.6998A>C (p.Asn2333Thr)
c.7235A>C (p.Asn2412Thr)
6g.75119127T>ACA364747848COL12A1c.7270A>T (p.Asn2424Tyr)
c.3778A>T (p.Asn1260Tyr)
c.184A>T (p.Asn62Tyr)
c.3703A>T (p.Asn1235Tyr)
c.6997A>T (p.Asn2333Tyr)
c.7234A>T (p.Asn2412Tyr)
6g.75119127T>CCA364747852COL12A1c.7270A>G (p.Asn2424Asp)
c.3778A>G (p.Asn1260Asp)
c.184A>G (p.Asn62Asp)
c.3703A>G (p.Asn1235Asp)
c.6997A>G (p.Asn2333Asp)
c.7234A>G (p.Asn2412Asp)
6g.75119127T>GCA364747850COL12A1c.7270A>C (p.Asn2424His)
c.3778A>C (p.Asn1260His)
c.184A>C (p.Asn62His)
c.3703A>C (p.Asn1235His)
c.6997A>C (p.Asn2333His)
c.7234A>C (p.Asn2412His)
 ClinVar dbSNP gnomAD v4
6g.75119127T=CA1638933348COL12A1c.7270A= (p.Asn2424=)
c.3778A= (p.Asn1260=)
c.184A= (p.Asn62=)
c.3703A= (p.Asn1235=)
c.6997A= (p.Asn2333=)
c.7234A= (p.Asn2412=)
6g.75119128C>ACA364747855COL12A1c.7269G>T (p.Lys2423Asn)
c.3777G>T (p.Lys1259Asn)
c.183G>T (p.Lys61Asn)
c.3702G>T (p.Lys1234Asn)
c.6996G>T (p.Lys2332Asn)
c.7233G>T (p.Lys2411Asn)
6g.75119128C=CA1638933349COL12A1c.7269G= (p.Lys2423=)
c.3777G= (p.Lys1259=)
c.183G= (p.Lys61=)
c.3702G= (p.Lys1234=)
c.6996G= (p.Lys2332=)
c.7233G= (p.Lys2411=)
6g.75119128C>GCA364747859COL12A1c.7269G>C (p.Lys2423Asn)
c.3777G>C (p.Lys1259Asn)
c.183G>C (p.Lys61Asn)
c.3702G>C (p.Lys1234Asn)
c.6996G>C (p.Lys2332Asn)
c.7233G>C (p.Lys2411Asn)
6g.75119128C>TCA3892608COL12A1c.7269G>A (p.Lys2423=)
c.3777G>A (p.Lys1259=)
c.183G>A (p.Lys61=)
c.3702G>A (p.Lys1234=)
c.6996G>A (p.Lys2332=)
c.7233G>A (p.Lys2411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.75119129T>ACA364747860COL12A1c.7268A>T (p.Lys2423Met)
c.3776A>T (p.Lys1259Met)
c.182A>T (p.Lys61Met)
c.3701A>T (p.Lys1234Met)
c.6995A>T (p.Lys2332Met)
c.7232A>T (p.Lys2411Met)
6g.75119129T>CCA364747862COL12A1c.7268A>G (p.Lys2423Arg)
c.3776A>G (p.Lys1259Arg)
c.182A>G (p.Lys61Arg)
c.3701A>G (p.Lys1234Arg)
c.6995A>G (p.Lys2332Arg)
c.7232A>G (p.Lys2411Arg)
6g.75119129T>GCA364747864COL12A1c.7268A>C (p.Lys2423Thr)
c.3776A>C (p.Lys1259Thr)
c.182A>C (p.Lys61Thr)
c.3701A>C (p.Lys1234Thr)
c.6995A>C (p.Lys2332Thr)
c.7232A>C (p.Lys2411Thr)
6g.75119130T>ACA364747867COL12A1c.7267A>T (p.Lys2423Ter)
c.3775A>T (p.Lys1259Ter)
c.181A>T (p.Lys61Ter)
c.3700A>T (p.Lys1234Ter)
c.6994A>T (p.Lys2332Ter)
c.7231A>T (p.Lys2411Ter)
6g.75119130T>CCA364747877COL12A1c.7267A>G (p.Lys2423Glu)
c.3775A>G (p.Lys1259Glu)
c.181A>G (p.Lys61Glu)
c.3700A>G (p.Lys1234Glu)
c.6994A>G (p.Lys2332Glu)
c.7231A>G (p.Lys2411Glu)
6g.75119130T>GCA364747881COL12A1c.7267A>C (p.Lys2423Gln)
c.3775A>C (p.Lys1259Gln)
c.181A>C (p.Lys61Gln)
c.3700A>C (p.Lys1234Gln)
c.6994A>C (p.Lys2332Gln)
c.7231A>C (p.Lys2411Gln)
6g.75119131C>ACA364747885COL12A1c.7266G>T (p.Arg2422Ser)
c.3774G>T (p.Arg1258Ser)
c.180G>T (p.Arg60Ser)
c.3699G>T (p.Arg1233Ser)
c.6993G>T (p.Arg2331Ser)
c.7230G>T (p.Arg2410Ser)
6g.75119131C>GCA364747887COL12A1c.7266G>C (p.Arg2422Ser)
c.3774G>C (p.Arg1258Ser)
c.180G>C (p.Arg60Ser)
c.3699G>C (p.Arg1233Ser)
c.6993G>C (p.Arg2331Ser)
c.7230G>C (p.Arg2410Ser)
6g.75119131C>TCA451111388COL12A1c.7266G>A (p.Arg2422=)
c.3774G>A (p.Arg1258=)
c.180G>A (p.Arg60=)
c.3699G>A (p.Arg1233=)
c.6993G>A (p.Arg2331=)
c.7230G>A (p.Arg2410=)
6g.75119132C>ACA364747888COL12A1c.7265G>T (p.Arg2422Met)
c.3773G>T (p.Arg1258Met)
c.179G>T (p.Arg60Met)
c.3698G>T (p.Arg1233Met)
c.6992G>T (p.Arg2331Met)
c.7229G>T (p.Arg2410Met)
6g.75119132C>GCA364747889COL12A1c.7265G>C (p.Arg2422Thr)
c.3773G>C (p.Arg1258Thr)
c.179G>C (p.Arg60Thr)
c.3698G>C (p.Arg1233Thr)
c.6992G>C (p.Arg2331Thr)
c.7229G>C (p.Arg2410Thr)
6g.75119132C>TCA364747890COL12A1c.7265G>A (p.Arg2422Lys)
c.3773G>A (p.Arg1258Lys)
c.179G>A (p.Arg60Lys)
c.3698G>A (p.Arg1233Lys)
c.6992G>A (p.Arg2331Lys)
c.7229G>A (p.Arg2410Lys)
6g.75119133T>ACA364747891COL12A1c.7264A>T (p.Arg2422Trp)
c.3772A>T (p.Arg1258Trp)
c.178A>T (p.Arg60Trp)
c.3697A>T (p.Arg1233Trp)
c.6991A>T (p.Arg2331Trp)
c.7228A>T (p.Arg2410Trp)
6g.75119133T>CCA364747892COL12A1c.7264A>G (p.Arg2422Gly)
c.3772A>G (p.Arg1258Gly)
c.178A>G (p.Arg60Gly)
c.3697A>G (p.Arg1233Gly)
c.6991A>G (p.Arg2331Gly)
c.7228A>G (p.Arg2410Gly)
 ClinVar dbSNP
6g.75119133T>GCA451111389COL12A1c.7264A>C (p.Arg2422=)
c.3772A>C (p.Arg1258=)
c.178A>C (p.Arg60=)
c.3697A>C (p.Arg1233=)
c.6991A>C (p.Arg2331=)
c.7228A>C (p.Arg2410=)
6g.75119133T=CA1638933350COL12A1c.7264A= (p.Arg2422=)
c.3772A= (p.Arg1258=)
c.178A= (p.Arg60=)
c.3697A= (p.Arg1233=)
c.6991A= (p.Arg2331=)
c.7228A= (p.Arg2410=)
6g.75119134C>ACA364747894COL12A1c.7263G>T (p.Met2421Ile)
c.3771G>T (p.Met1257Ile)
c.177G>T (p.Met59Ile)
c.3696G>T (p.Met1232Ile)
c.6990G>T (p.Met2330Ile)
c.7227G>T (p.Met2409Ile)
 gnomAD v4
6g.75119134C>GCA364747899COL12A1c.7263G>C (p.Met2421Ile)
c.3771G>C (p.Met1257Ile)
c.177G>C (p.Met59Ile)
c.3696G>C (p.Met1232Ile)
c.6990G>C (p.Met2330Ile)
c.7227G>C (p.Met2409Ile)
6g.75119134C>TCA364747898COL12A1c.7263G>A (p.Met2421Ile)
c.3771G>A (p.Met1257Ile)
c.177G>A (p.Met59Ile)
c.3696G>A (p.Met1232Ile)
c.6990G>A (p.Met2330Ile)
c.7227G>A (p.Met2409Ile)
 gnomAD v4
6g.75119135A>CCA364747902COL12A1c.7262T>G (p.Met2421Arg)
c.3770T>G (p.Met1257Arg)
c.176T>G (p.Met59Arg)
c.3695T>G (p.Met1232Arg)
c.6989T>G (p.Met2330Arg)
c.7226T>G (p.Met2409Arg)
6g.75119135A>GCA364747903COL12A1c.7262T>C (p.Met2421Thr)
c.3770T>C (p.Met1257Thr)
c.176T>C (p.Met59Thr)
c.3695T>C (p.Met1232Thr)
c.6989T>C (p.Met2330Thr)
c.7226T>C (p.Met2409Thr)
6g.75119135A>TCA364747906COL12A1c.7262T>A (p.Met2421Lys)
c.3770T>A (p.Met1257Lys)
c.176T>A (p.Met59Lys)
c.3695T>A (p.Met1232Lys)
c.6989T>A (p.Met2330Lys)
c.7226T>A (p.Met2409Lys)
6g.75119136T>ACA141013893COL12A1c.7261A>T (p.Met2421Leu)
c.3769A>T (p.Met1257Leu)
c.175A>T (p.Met59Leu)
c.3694A>T (p.Met1232Leu)
c.6988A>T (p.Met2330Leu)
c.7225A>T (p.Met2409Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.75119136T>CCA364747916COL12A1c.7261A>G (p.Met2421Val)
c.3769A>G (p.Met1257Val)
c.175A>G (p.Met59Val)
c.3694A>G (p.Met1232Val)
c.6988A>G (p.Met2330Val)
c.7225A>G (p.Met2409Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.75119136T>GCA364747918COL12A1c.7261A>C (p.Met2421Leu)
c.3769A>C (p.Met1257Leu)
c.175A>C (p.Met59Leu)
c.3694A>C (p.Met1232Leu)
c.6988A>C (p.Met2330Leu)
c.7225A>C (p.Met2409Leu)
6g.75119136T=CA1638933351COL12A1c.7261A= (p.Met2421=)
c.3769A= (p.Met1257=)
c.175A= (p.Met59=)
c.3694A= (p.Met1232=)
c.6988A= (p.Met2330=)
c.7225A= (p.Met2409=)
6g.75119137G>ACA451111390COL12A1c.7260C>T (p.Gly2420=)
c.3768C>T (p.Gly1256=)
c.174C>T (p.Gly58=)
c.3693C>T (p.Gly1231=)
c.6987C>T (p.Gly2329=)
c.7224C>T (p.Gly2408=)
6g.75119137G>CCA451111391COL12A1c.7260C>G (p.Gly2420=)
c.3768C>G (p.Gly1256=)
c.174C>G (p.Gly58=)
c.3693C>G (p.Gly1231=)
c.6987C>G (p.Gly2329=)
c.7224C>G (p.Gly2408=)
6g.75119137G>TCA451111392COL12A1c.7260C>A (p.Gly2420=)
c.3768C>A (p.Gly1256=)
c.174C>A (p.Gly58=)
c.3693C>A (p.Gly1231=)
c.6987C>A (p.Gly2329=)
c.7224C>A (p.Gly2408=)
 COSMIC
6g.75119138C>ACA364747920COL12A1c.7259G>T (p.Gly2420Val)
c.3767G>T (p.Gly1256Val)
c.173G>T (p.Gly58Val)
c.3692G>T (p.Gly1231Val)
c.6986G>T (p.Gly2329Val)
c.7223G>T (p.Gly2408Val)
 COSMIC
6g.75119138C>GCA364747922COL12A1c.7259G>C (p.Gly2420Ala)
c.3767G>C (p.Gly1256Ala)
c.173G>C (p.Gly58Ala)
c.3692G>C (p.Gly1231Ala)
c.6986G>C (p.Gly2329Ala)
c.7223G>C (p.Gly2408Ala)
6g.75119138C>TCA364747924COL12A1c.7259G>A (p.Gly2420Asp)
c.3767G>A (p.Gly1256Asp)
c.173G>A (p.Gly58Asp)
c.3692G>A (p.Gly1231Asp)
c.6986G>A (p.Gly2329Asp)
c.7223G>A (p.Gly2408Asp)
6g.75119139C>ACA364747930COL12A1c.7258G>T (p.Gly2420Cys)
c.3766G>T (p.Gly1256Cys)
c.172G>T (p.Gly58Cys)
c.3691G>T (p.Gly1231Cys)
c.6985G>T (p.Gly2329Cys)
c.7222G>T (p.Gly2408Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.75119139C=CA1638933352COL12A1c.7258G= (p.Gly2420=)
c.3766G= (p.Gly1256=)
c.172G= (p.Gly58=)
c.3691G= (p.Gly1231=)
c.6985G= (p.Gly2329=)
c.7222G= (p.Gly2408=)
6g.75119139C>GCA364747929COL12A1c.7258G>C (p.Gly2420Arg)
c.3766G>C (p.Gly1256Arg)
c.172G>C (p.Gly58Arg)
c.3691G>C (p.Gly1231Arg)
c.6985G>C (p.Gly2329Arg)
c.7222G>C (p.Gly2408Arg)
6g.75119139C>TCA364747928COL12A1c.7258G>A (p.Gly2420Ser)
c.3766G>A (p.Gly1256Ser)
c.172G>A (p.Gly58Ser)
c.3691G>A (p.Gly1231Ser)
c.6985G>A (p.Gly2329Ser)
c.7222G>A (p.Gly2408Ser)
 ClinVar dbSNP
6g.75119140G>ACA3892609COL12A1c.7257C>T (p.Ser2419=)
c.3765C>T (p.Ser1255=)
c.171C>T (p.Ser57=)
c.3690C>T (p.Ser1230=)
c.6984C>T (p.Ser2328=)
c.7221C>T (p.Ser2407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.75119140G>CCA364747934COL12A1c.7257C>G (p.Ser2419Arg)
c.3765C>G (p.Ser1255Arg)
c.171C>G (p.Ser57Arg)
c.3690C>G (p.Ser1230Arg)
c.6984C>G (p.Ser2328Arg)
c.7221C>G (p.Ser2407Arg)
6g.75119140G=CA1638933353COL12A1c.7257C= (p.Ser2419=)
c.3765C= (p.Ser1255=)
c.171C= (p.Ser57=)
c.3690C= (p.Ser1230=)
c.6984C= (p.Ser2328=)
c.7221C= (p.Ser2407=)
6g.75119140G>TCA364747935COL12A1c.7257C>A (p.Ser2419Arg)
c.3765C>A (p.Ser1255Arg)
c.171C>A (p.Ser57Arg)
c.3690C>A (p.Ser1230Arg)
c.6984C>A (p.Ser2328Arg)
c.7221C>A (p.Ser2407Arg)
6g.75119141C>ACA364747939COL12A1c.7256G>T (p.Ser2419Ile)
c.3764G>T (p.Ser1255Ile)
c.170G>T (p.Ser57Ile)
c.3689G>T (p.Ser1230Ile)
c.6983G>T (p.Ser2328Ile)
c.7220G>T (p.Ser2407Ile)
6g.75119141C>GCA364747941COL12A1c.7256G>C (p.Ser2419Thr)
c.3764G>C (p.Ser1255Thr)
c.170G>C (p.Ser57Thr)
c.3689G>C (p.Ser1230Thr)
c.6983G>C (p.Ser2328Thr)
c.7220G>C (p.Ser2407Thr)
6g.75119141C>TCA364747944COL12A1c.7256G>A (p.Ser2419Asn)
c.3764G>A (p.Ser1255Asn)
c.170G>A (p.Ser57Asn)
c.3689G>A (p.Ser1230Asn)
c.6983G>A (p.Ser2328Asn)
c.7220G>A (p.Ser2407Asn)
 gnomAD v4
6g.75119142T>ACA364747948COL12A1c.7255A>T (p.Ser2419Cys)
c.3763A>T (p.Ser1255Cys)
c.169A>T (p.Ser57Cys)
c.3688A>T (p.Ser1230Cys)
c.6982A>T (p.Ser2328Cys)
c.7219A>T (p.Ser2407Cys)
6g.75119142T>CCA364747950COL12A1c.7255A>G (p.Ser2419Gly)
c.3763A>G (p.Ser1255Gly)
c.169A>G (p.Ser57Gly)
c.3688A>G (p.Ser1230Gly)
c.6982A>G (p.Ser2328Gly)
c.7219A>G (p.Ser2407Gly)
 ClinVar
6g.75119142T>GCA364747957COL12A1c.7255A>C (p.Ser2419Arg)
c.3763A>C (p.Ser1255Arg)
c.169A>C (p.Ser57Arg)
c.3688A>C (p.Ser1230Arg)
c.6982A>C (p.Ser2328Arg)
c.7219A>C (p.Ser2407Arg)
 gnomAD v4
6g.75119143C>ACA364747960COL12A1c.7254G>T (p.Glu2418Asp)
c.3762G>T (p.Glu1254Asp)
c.168G>T (p.Glu56Asp)
c.3687G>T (p.Glu1229Asp)
c.6981G>T (p.Glu2327Asp)
c.7218G>T (p.Glu2406Asp)
6g.75119143C>GCA364747963COL12A1c.7254G>C (p.Glu2418Asp)
c.3762G>C (p.Glu1254Asp)
c.168G>C (p.Glu56Asp)
c.3687G>C (p.Glu1229Asp)
c.6981G>C (p.Glu2327Asp)
c.7218G>C (p.Glu2406Asp)
 gnomAD v4
6g.75119143C>TCA451111393COL12A1c.7254G>A (p.Glu2418=)
c.3762G>A (p.Glu1254=)
c.168G>A (p.Glu56=)
c.3687G>A (p.Glu1229=)
c.6981G>A (p.Glu2327=)
c.7218G>A (p.Glu2406=)
6g.75119144T>ACA364747970COL12A1c.7253A>T (p.Glu2418Val)
c.3761A>T (p.Glu1254Val)
c.167A>T (p.Glu56Val)
c.3686A>T (p.Glu1229Val)
c.6980A>T (p.Glu2327Val)
c.7217A>T (p.Glu2406Val)
6g.75119144T>CCA364747968COL12A1c.7253A>G (p.Glu2418Gly)
c.3761A>G (p.Glu1254Gly)
c.167A>G (p.Glu56Gly)
c.3686A>G (p.Glu1229Gly)
c.6980A>G (p.Glu2327Gly)
c.7217A>G (p.Glu2406Gly)
6g.75119144T>GCA364747965COL12A1c.7253A>C (p.Glu2418Ala)
c.3761A>C (p.Glu1254Ala)
c.167A>C (p.Glu56Ala)
c.3686A>C (p.Glu1229Ala)
c.6980A>C (p.Glu2327Ala)
c.7217A>C (p.Glu2406Ala)
6g.75119145C>ACA364747973COL12A1c.7252G>T (p.Glu2418Ter)
c.3760G>T (p.Glu1254Ter)
c.166G>T (p.Glu56Ter)
c.3685G>T (p.Glu1229Ter)
c.6979G>T (p.Glu2327Ter)
c.7216G>T (p.Glu2406Ter)
6g.75119145C>GCA364747974COL12A1c.7252G>C (p.Glu2418Gln)
c.3760G>C (p.Glu1254Gln)
c.166G>C (p.Glu56Gln)
c.3685G>C (p.Glu1229Gln)
c.6979G>C (p.Glu2327Gln)
c.7216G>C (p.Glu2406Gln)
 gnomAD v4
6g.75119145C>TCA364747978COL12A1c.7252G>A (p.Glu2418Lys)
c.3760G>A (p.Glu1254Lys)
c.166G>A (p.Glu56Lys)
c.3685G>A (p.Glu1229Lys)
c.6979G>A (p.Glu2327Lys)
c.7216G>A (p.Glu2406Lys)
6g.75119146C>ACA364747981COL12A1c.7251G>T (p.Trp2417Cys)
c.3759G>T (p.Trp1253Cys)
c.165G>T (p.Trp55Cys)
c.3684G>T (p.Trp1228Cys)
c.6978G>T (p.Trp2326Cys)
c.7215G>T (p.Trp2405Cys)
6g.75119146C>GCA364747984COL12A1c.7251G>C (p.Trp2417Cys)
c.3759G>C (p.Trp1253Cys)
c.165G>C (p.Trp55Cys)
c.3684G>C (p.Trp1228Cys)
c.6978G>C (p.Trp2326Cys)
c.7215G>C (p.Trp2405Cys)
6g.75119146C>TCA364747988COL12A1c.7251G>A (p.Trp2417Ter)
c.3759G>A (p.Trp1253Ter)
c.165G>A (p.Trp55Ter)
c.3684G>A (p.Trp1228Ter)
c.6978G>A (p.Trp2326Ter)
c.7215G>A (p.Trp2405Ter)
 COSMIC
6g.75119147C>ACA141013901COL12A1c.7250G>T (p.Trp2417Leu)
c.3758G>T (p.Trp1253Leu)
c.164G>T (p.Trp55Leu)
c.3683G>T (p.Trp1228Leu)
c.6977G>T (p.Trp2326Leu)
c.7214G>T (p.Trp2405Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75119147C=CA1638933354COL12A1c.7250G= (p.Trp2417=)
c.3758G= (p.Trp1253=)
c.164G= (p.Trp55=)
c.3683G= (p.Trp1228=)
c.6977G= (p.Trp2326=)
c.7214G= (p.Trp2405=)
6g.75119147C>GCA364747990COL12A1c.7250G>C (p.Trp2417Ser)
c.3758G>C (p.Trp1253Ser)
c.164G>C (p.Trp55Ser)
c.3683G>C (p.Trp1228Ser)
c.6977G>C (p.Trp2326Ser)
c.7214G>C (p.Trp2405Ser)
6g.75119147C>TCA364747992COL12A1c.7250G>A (p.Trp2417Ter)
c.3758G>A (p.Trp1253Ter)
c.164G>A (p.Trp55Ter)
c.3683G>A (p.Trp1228Ter)
c.6977G>A (p.Trp2326Ter)
c.7214G>A (p.Trp2405Ter)
6g.75119148A>CCA364747995COL12A1c.7249T>G (p.Trp2417Gly)
c.3757T>G (p.Trp1253Gly)
c.163T>G (p.Trp55Gly)
c.3682T>G (p.Trp1228Gly)
c.6976T>G (p.Trp2326Gly)
c.7213T>G (p.Trp2405Gly)
6g.75119148A>GCA364747998COL12A1c.7249T>C (p.Trp2417Arg)
c.3757T>C (p.Trp1253Arg)
c.163T>C (p.Trp55Arg)
c.3682T>C (p.Trp1228Arg)
c.6976T>C (p.Trp2326Arg)
c.7213T>C (p.Trp2405Arg)
6g.75119148A>TCA364748001COL12A1c.7249T>A (p.Trp2417Arg)
c.3757T>A (p.Trp1253Arg)
c.163T>A (p.Trp55Arg)
c.3682T>A (p.Trp1228Arg)
c.6976T>A (p.Trp2326Arg)
c.7213T>A (p.Trp2405Arg)
6g.75119149A=CA1638933355COL12A1c.7248T= (p.Thr2416=)
c.3756T= (p.Thr1252=)
c.162T= (p.Thr54=)
c.3681T= (p.Thr1227=)
c.6975T= (p.Thr2325=)
c.7212T= (p.Thr2404=)
6g.75119149A>CCA451111394COL12A1c.7248T>G (p.Thr2416=)
c.3756T>G (p.Thr1252=)
c.162T>G (p.Thr54=)
c.3681T>G (p.Thr1227=)
c.6975T>G (p.Thr2325=)
c.7212T>G (p.Thr2404=)
 dbSNP gnomAD v3 gnomAD v4
6g.75119149A>GCA451111395COL12A1c.7248T>C (p.Thr2416=)
c.3756T>C (p.Thr1252=)
c.162T>C (p.Thr54=)
c.3681T>C (p.Thr1227=)
c.6975T>C (p.Thr2325=)
c.7212T>C (p.Thr2404=)
6g.75119149A>TCA451111396COL12A1c.7248T>A (p.Thr2416=)
c.3756T>A (p.Thr1252=)
c.162T>A (p.Thr54=)
c.3681T>A (p.Thr1227=)
c.6975T>A (p.Thr2325=)
c.7212T>A (p.Thr2404=)
6g.75119150G>ACA364748009COL12A1c.7247C>T (p.Thr2416Ile)
c.3755C>T (p.Thr1252Ile)
c.161C>T (p.Thr54Ile)
c.3680C>T (p.Thr1227Ile)
c.6974C>T (p.Thr2325Ile)
c.7211C>T (p.Thr2404Ile)
6g.75119150G>CCA364748006COL12A1c.7247C>G (p.Thr2416Ser)
c.3755C>G (p.Thr1252Ser)
c.161C>G (p.Thr54Ser)
c.3680C>G (p.Thr1227Ser)
c.6974C>G (p.Thr2325Ser)
c.7211C>G (p.Thr2404Ser)
6g.75119150G>TCA364748003COL12A1c.7247C>A (p.Thr2416Asn)
c.3755C>A (p.Thr1252Asn)
c.161C>A (p.Thr54Asn)
c.3680C>A (p.Thr1227Asn)
c.6974C>A (p.Thr2325Asn)
c.7211C>A (p.Thr2404Asn)
6g.75119151T>ACA364748014COL12A1c.7246A>T (p.Thr2416Ser)
c.3754A>T (p.Thr1252Ser)
c.160A>T (p.Thr54Ser)
c.3679A>T (p.Thr1227Ser)
c.6973A>T (p.Thr2325Ser)
c.7210A>T (p.Thr2404Ser)
6g.75119151T>CCA364748018COL12A1c.7246A>G (p.Thr2416Ala)
c.3754A>G (p.Thr1252Ala)
c.160A>G (p.Thr54Ala)
c.3679A>G (p.Thr1227Ala)
c.6973A>G (p.Thr2325Ala)
c.7210A>G (p.Thr2404Ala)
6g.75119151T>GCA364748016COL12A1c.7246A>C (p.Thr2416Pro)
c.3754A>C (p.Thr1252Pro)
c.160A>C (p.Thr54Pro)
c.3679A>C (p.Thr1227Pro)
c.6973A>C (p.Thr2325Pro)
c.7210A>C (p.Thr2404Pro)
6g.75119152C>ACA364748020COL12A1c.7245G>T (p.Leu2415Phe)
c.3753G>T (p.Leu1251Phe)
c.159G>T (p.Leu53Phe)
c.3678G>T (p.Leu1226Phe)
c.6972G>T (p.Leu2324Phe)
c.7209G>T (p.Leu2403Phe)
6g.75119152C>GCA364748022COL12A1c.7245G>C (p.Leu2415Phe)
c.3753G>C (p.Leu1251Phe)
c.159G>C (p.Leu53Phe)
c.3678G>C (p.Leu1226Phe)
c.6972G>C (p.Leu2324Phe)
c.7209G>C (p.Leu2403Phe)
6g.75119152C>TCA451111397COL12A1c.7245G>A (p.Leu2415=)
c.3753G>A (p.Leu1251=)
c.159G>A (p.Leu53=)
c.3678G>A (p.Leu1226=)
c.6972G>A (p.Leu2324=)
c.7209G>A (p.Leu2403=)
 gnomAD v4
6g.75119153A>CCA364748025COL12A1c.7244T>G (p.Leu2415Trp)
c.3752T>G (p.Leu1251Trp)
c.158T>G (p.Leu53Trp)
c.3677T>G (p.Leu1226Trp)
c.6971T>G (p.Leu2324Trp)
c.7208T>G (p.Leu2403Trp)
6g.75119153A>GCA364748028COL12A1c.7244T>C (p.Leu2415Ser)
c.3752T>C (p.Leu1251Ser)
c.158T>C (p.Leu53Ser)
c.3677T>C (p.Leu1226Ser)
c.6971T>C (p.Leu2324Ser)
c.7208T>C (p.Leu2403Ser)
 COSMIC
6g.75119153A>TCA364748031COL12A1c.7244T>A (p.Leu2415Ter)
c.3752T>A (p.Leu1251Ter)
c.158T>A (p.Leu53Ter)
c.3677T>A (p.Leu1226Ter)
c.6971T>A (p.Leu2324Ter)
c.7208T>A (p.Leu2403Ter)
6g.75119154A>CCA364748034COL12A1c.7243T>G (p.Leu2415Val)
c.3751T>G (p.Leu1251Val)
c.157T>G (p.Leu53Val)
c.3676T>G (p.Leu1226Val)
c.6970T>G (p.Leu2324Val)
c.7207T>G (p.Leu2403Val)
6g.75119154A>GCA451111398COL12A1c.7243T>C (p.Leu2415=)
c.3751T>C (p.Leu1251=)
c.157T>C (p.Leu53=)
c.3676T>C (p.Leu1226=)
c.6970T>C (p.Leu2324=)
c.7207T>C (p.Leu2403=)
6g.75119154A>TCA364748036COL12A1c.7243T>A (p.Leu2415Met)
c.3751T>A (p.Leu1251Met)
c.157T>A (p.Leu53Met)
c.3676T>A (p.Leu1226Met)
c.6970T>A (p.Leu2324Met)
c.7207T>A (p.Leu2403Met)
6g.75119155G>ACA451111399COL12A1c.7242C>T (p.Val2414=)
c.3750C>T (p.Val1250=)
c.156C>T (p.Val52=)
c.3675C>T (p.Val1225=)
c.6969C>T (p.Val2323=)
c.7206C>T (p.Val2402=)
 gnomAD v4
6g.75119155G>CCA451111400COL12A1c.7242C>G (p.Val2414=)
c.3750C>G (p.Val1250=)
c.156C>G (p.Val52=)
c.3675C>G (p.Val1225=)
c.6969C>G (p.Val2323=)
c.7206C>G (p.Val2402=)
 dbSNP gnomAD v2
6g.75119155G=CA1638933356COL12A1c.7242C= (p.Val2414=)
c.3750C= (p.Val1250=)
c.156C= (p.Val52=)
c.3675C= (p.Val1225=)
c.6969C= (p.Val2323=)
c.7206C= (p.Val2402=)
6g.75119155G>TCA451111401COL12A1c.7242C>A (p.Val2414=)
c.3750C>A (p.Val1250=)
c.156C>A (p.Val52=)
c.3675C>A (p.Val1225=)
c.6969C>A (p.Val2323=)
c.7206C>A (p.Val2402=)
6g.75119156A>CCA364748042COL12A1c.7241T>G (p.Val2414Gly)
c.3749T>G (p.Val1250Gly)
c.155T>G (p.Val52Gly)
c.3674T>G (p.Val1225Gly)
c.6968T>G (p.Val2323Gly)
c.7205T>G (p.Val2402Gly)
6g.75119156A>GCA364748044COL12A1c.7241T>C (p.Val2414Ala)
c.3749T>C (p.Val1250Ala)
c.155T>C (p.Val52Ala)
c.3674T>C (p.Val1225Ala)
c.6968T>C (p.Val2323Ala)
c.7205T>C (p.Val2402Ala)
6g.75119156A>TCA364748047COL12A1c.7241T>A (p.Val2414Asp)
c.3749T>A (p.Val1250Asp)
c.155T>A (p.Val52Asp)
c.3674T>A (p.Val1225Asp)
c.6968T>A (p.Val2323Asp)
c.7205T>A (p.Val2402Asp)
6g.75119157C>ACA364748050COL12A1c.7240G>T (p.Val2414Phe)
c.3748G>T (p.Val1250Phe)
c.154G>T (p.Val52Phe)
c.3673G>T (p.Val1225Phe)
c.6967G>T (p.Val2323Phe)
c.7204G>T (p.Val2402Phe)
 ClinVar dbSNP
6g.75119157C>GCA364748054COL12A1c.7240G>C (p.Val2414Leu)
c.3748G>C (p.Val1250Leu)
c.154G>C (p.Val52Leu)
c.3673G>C (p.Val1225Leu)
c.6967G>C (p.Val2323Leu)
c.7204G>C (p.Val2402Leu)
6g.75119157C>TCA364748056COL12A1c.7240G>A (p.Val2414Ile)
c.3748G>A (p.Val1250Ile)
c.154G>A (p.Val52Ile)
c.3673G>A (p.Val1225Ile)
c.6967G>A (p.Val2323Ile)
c.7204G>A (p.Val2402Ile)
6g.75119158T>ACA364748058COL12A1c.7239A>T (p.Lys2413Asn)
c.3747A>T (p.Lys1249Asn)
c.153A>T (p.Lys51Asn)
c.3672A>T (p.Lys1224Asn)
c.6966A>T (p.Lys2322Asn)
c.7203A>T (p.Lys2401Asn)
6g.75119158T>CCA451111402COL12A1c.7239A>G (p.Lys2413=)
c.3747A>G (p.Lys1249=)
c.153A>G (p.Lys51=)
c.3672A>G (p.Lys1224=)
c.6966A>G (p.Lys2322=)
c.7203A>G (p.Lys2401=)
 dbSNP gnomAD v3 gnomAD v4
6g.75119158T>GCA364748059COL12A1c.7239A>C (p.Lys2413Asn)
c.3747A>C (p.Lys1249Asn)
c.153A>C (p.Lys51Asn)
c.3672A>C (p.Lys1224Asn)
c.6966A>C (p.Lys2322Asn)
c.7203A>C (p.Lys2401Asn)
6g.75119158T=CA1638933357COL12A1c.7239A= (p.Lys2413=)
c.3747A= (p.Lys1249=)
c.153A= (p.Lys51=)
c.3672A= (p.Lys1224=)
c.6966A= (p.Lys2322=)
c.7203A= (p.Lys2401=)
6g.75119159T>ACA364748060COL12A1c.7238A>T (p.Lys2413Ile)
c.3746A>T (p.Lys1249Ile)
c.152A>T (p.Lys51Ile)
c.3671A>T (p.Lys1224Ile)
c.6965A>T (p.Lys2322Ile)
c.7202A>T (p.Lys2401Ile)
6g.75119159T>CCA364748063COL12A1c.7238A>G (p.Lys2413Arg)
c.3746A>G (p.Lys1249Arg)
c.152A>G (p.Lys51Arg)
c.3671A>G (p.Lys1224Arg)
c.6965A>G (p.Lys2322Arg)
c.7202A>G (p.Lys2401Arg)
6g.75119159T>GCA364748066COL12A1c.7238A>C (p.Lys2413Thr)
c.3746A>C (p.Lys1249Thr)
c.152A>C (p.Lys51Thr)
c.3671A>C (p.Lys1224Thr)
c.6965A>C (p.Lys2322Thr)
c.7202A>C (p.Lys2401Thr)
6g.75119160T>ACA364748070COL12A1c.7237A>T (p.Lys2413Ter)
c.3745A>T (p.Lys1249Ter)
c.151A>T (p.Lys51Ter)
c.3670A>T (p.Lys1224Ter)
c.6964A>T (p.Lys2322Ter)
c.7201A>T (p.Lys2401Ter)
6g.75119160T>CCA364748080COL12A1c.7237A>G (p.Lys2413Glu)
c.3745A>G (p.Lys1249Glu)
c.151A>G (p.Lys51Glu)
c.3670A>G (p.Lys1224Glu)
c.6964A>G (p.Lys2322Glu)
c.7201A>G (p.Lys2401Glu)
6g.75119160T>GCA364748082COL12A1c.7237A>C (p.Lys2413Gln)
c.3745A>C (p.Lys1249Gln)
c.151A>C (p.Lys51Gln)
c.3670A>C (p.Lys1224Gln)
c.6964A>C (p.Lys2322Gln)
c.7201A>C (p.Lys2401Gln)
6g.75119161C>ACA364748085COL12A1c.7236G>T (p.Glu2412Asp)
c.3744G>T (p.Glu1248Asp)
c.150G>T (p.Glu50Asp)
c.3669G>T (p.Glu1223Asp)
c.6963G>T (p.Glu2321Asp)
c.7200G>T (p.Glu2400Asp)
6g.75119161C=CA1638933358COL12A1c.7236G= (p.Glu2412=)
c.3744G= (p.Glu1248=)
c.150G= (p.Glu50=)
c.3669G= (p.Glu1223=)
c.6963G= (p.Glu2321=)
c.7200G= (p.Glu2400=)
6g.75119161C>GCA364748086COL12A1c.7236G>C (p.Glu2412Asp)
c.3744G>C (p.Glu1248Asp)
c.150G>C (p.Glu50Asp)
c.3669G>C (p.Glu1223Asp)
c.6963G>C (p.Glu2321Asp)
c.7200G>C (p.Glu2400Asp)
 dbSNP
6g.75119161C>TCA451111403COL12A1c.7236G>A (p.Glu2412=)
c.3744G>A (p.Glu1248=)
c.150G>A (p.Glu50=)
c.3669G>A (p.Glu1223=)
c.6963G>A (p.Glu2321=)
c.7200G>A (p.Glu2400=)
6g.75119162T>ACA364748087COL12A1c.7235A>T (p.Glu2412Val)
c.3743A>T (p.Glu1248Val)
c.149A>T (p.Glu50Val)
c.3668A>T (p.Glu1223Val)
c.6962A>T (p.Glu2321Val)
c.7199A>T (p.Glu2400Val)
6g.75119162T>CCA364748088COL12A1c.7235A>G (p.Glu2412Gly)
c.3743A>G (p.Glu1248Gly)
c.149A>G (p.Glu50Gly)
c.3668A>G (p.Glu1223Gly)
c.6962A>G (p.Glu2321Gly)
c.7199A>G (p.Glu2400Gly)
 gnomAD v4
6g.75119162T>GCA364748089COL12A1c.7235A>C (p.Glu2412Ala)
c.3743A>C (p.Glu1248Ala)
c.149A>C (p.Glu50Ala)
c.3668A>C (p.Glu1223Ala)
c.6962A>C (p.Glu2321Ala)
c.7199A>C (p.Glu2400Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.75119162T=CA1638933359COL12A1c.7235A= (p.Glu2412=)
c.3743A= (p.Glu1248=)
c.149A= (p.Glu50=)
c.3668A= (p.Glu1223=)
c.6962A= (p.Glu2321=)
c.7199A= (p.Glu2400=)
6g.75119163C>ACA364748094COL12A1c.7234G>T (p.Glu2412Ter)
c.3742G>T (p.Glu1248Ter)
c.148G>T (p.Glu50Ter)
c.3667G>T (p.Glu1223Ter)
c.6961G>T (p.Glu2321Ter)
c.7198G>T (p.Glu2400Ter)
6g.75119163C=CA1638933360COL12A1c.7234G= (p.Glu2412=)
c.3742G= (p.Glu1248=)
c.148G= (p.Glu50=)
c.3667G= (p.Glu1223=)
c.6961G= (p.Glu2321=)
c.7198G= (p.Glu2400=)
6g.75119163C>GCA364748092COL12A1c.7234G>C (p.Glu2412Gln)
c.3742G>C (p.Glu1248Gln)
c.148G>C (p.Glu50Gln)
c.3667G>C (p.Glu1223Gln)
c.6961G>C (p.Glu2321Gln)
c.7198G>C (p.Glu2400Gln)
 dbSNP
6g.75119163C>TCA364748091COL12A1c.7234G>A (p.Glu2412Lys)
c.3742G>A (p.Glu1248Lys)
c.148G>A (p.Glu50Lys)
c.3667G>A (p.Glu1223Lys)
c.6961G>A (p.Glu2321Lys)
c.7198G>A (p.Glu2400Lys)
6g.75119164C>ACA364748096COL12A1c.7233G>T (p.Lys2411Asn)
c.3741G>T (p.Lys1247Asn)
c.147G>T (p.Lys49Asn)
c.3666G>T (p.Lys1222Asn)
c.6960G>T (p.Lys2320Asn)
c.7197G>T (p.Lys2399Asn)
6g.75119164C>GCA364748099COL12A1c.7233G>C (p.Lys2411Asn)
c.3741G>C (p.Lys1247Asn)
c.147G>C (p.Lys49Asn)
c.3666G>C (p.Lys1222Asn)
c.6960G>C (p.Lys2320Asn)
c.7197G>C (p.Lys2399Asn)
6g.75119164C>TCA451111404COL12A1c.7233G>A (p.Lys2411=)
c.3741G>A (p.Lys1247=)
c.147G>A (p.Lys49=)
c.3666G>A (p.Lys1222=)
c.6960G>A (p.Lys2320=)
c.7197G>A (p.Lys2399=)
6g.75119165T>ACA364748102COL12A1c.7232A>T (p.Lys2411Met)
c.3740A>T (p.Lys1247Met)
c.146A>T (p.Lys49Met)
c.3665A>T (p.Lys1222Met)
c.6959A>T (p.Lys2320Met)
c.7196A>T (p.Lys2399Met)
6g.75119165T>CCA364748104COL12A1c.7232A>G (p.Lys2411Arg)
c.3740A>G (p.Lys1247Arg)
c.146A>G (p.Lys49Arg)
c.3665A>G (p.Lys1222Arg)
c.6959A>G (p.Lys2320Arg)
c.7196A>G (p.Lys2399Arg)
 ClinVar
6g.75119165T>GCA364748105COL12A1c.7232A>C (p.Lys2411Thr)
c.3740A>C (p.Lys1247Thr)
c.146A>C (p.Lys49Thr)
c.3665A>C (p.Lys1222Thr)
c.6959A>C (p.Lys2320Thr)
c.7196A>C (p.Lys2399Thr)
6g.75119166T>ACA364748107COL12A1c.7231A>T (p.Lys2411Ter)
c.3739A>T (p.Lys1247Ter)
c.145A>T (p.Lys49Ter)
c.3664A>T (p.Lys1222Ter)
c.6958A>T (p.Lys2320Ter)
c.7195A>T (p.Lys2399Ter)
6g.75119166T>CCA364748108COL12A1c.7231A>G (p.Lys2411Glu)
c.3739A>G (p.Lys1247Glu)
c.145A>G (p.Lys49Glu)
c.3664A>G (p.Lys1222Glu)
c.6958A>G (p.Lys2320Glu)
c.7195A>G (p.Lys2399Glu)
6g.75119166T>GCA364748110COL12A1c.7231A>C (p.Lys2411Gln)
c.3739A>C (p.Lys1247Gln)
c.145A>C (p.Lys49Gln)
c.3664A>C (p.Lys1222Gln)
c.6958A>C (p.Lys2320Gln)
c.7195A>C (p.Lys2399Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75119166T=CA1638933361COL12A1c.7231A= (p.Lys2411=)
c.3739A= (p.Lys1247=)
c.145A= (p.Lys49=)
c.3664A= (p.Lys1222=)
c.6958A= (p.Lys2320=)
c.7195A= (p.Lys2399=)
6g.75119167G>ACA451111405COL12A1c.7230C>T (p.Ile2410=)
c.3738C>T (p.Ile1246=)
c.144C>T (p.Ile48=)
c.3663C>T (p.Ile1221=)
c.6957C>T (p.Ile2319=)
c.7194C>T (p.Ile2398=)
 ClinVar dbSNP
6g.75119167G>CCA364748120COL12A1c.7230C>G (p.Ile2410Met)
c.3738C>G (p.Ile1246Met)
c.144C>G (p.Ile48Met)
c.3663C>G (p.Ile1221Met)
c.6957C>G (p.Ile2319Met)
c.7194C>G (p.Ile2398Met)
6g.75119167G>TCA451111406COL12A1c.7230C>A (p.Ile2410=)
c.3738C>A (p.Ile1246=)
c.144C>A (p.Ile48=)
c.3663C>A (p.Ile1221=)
c.6957C>A (p.Ile2319=)
c.7194C>A (p.Ile2398=)
6g.75119168A=CA1638933362COL12A1c.7229T= (p.Ile2410=)
c.3737T= (p.Ile1246=)
c.143T= (p.Ile48=)
c.3662T= (p.Ile1221=)
c.6956T= (p.Ile2319=)
c.7193T= (p.Ile2398=)
6g.75119168A>CCA364748121COL12A1c.7229T>G (p.Ile2410Ser)
c.3737T>G (p.Ile1246Ser)
c.143T>G (p.Ile48Ser)
c.3662T>G (p.Ile1221Ser)
c.6956T>G (p.Ile2319Ser)
c.7193T>G (p.Ile2398Ser)
6g.75119168A>GCA364748122COL12A1c.7229T>C (p.Ile2410Thr)
c.3737T>C (p.Ile1246Thr)
c.143T>C (p.Ile48Thr)
c.3662T>C (p.Ile1221Thr)
c.6956T>C (p.Ile2319Thr)
c.7193T>C (p.Ile2398Thr)
 ClinVar dbSNP
6g.75119168A>TCA364748123COL12A1c.7229T>A (p.Ile2410Asn)
c.3737T>A (p.Ile1246Asn)
c.143T>A (p.Ile48Asn)
c.3662T>A (p.Ile1221Asn)
c.6956T>A (p.Ile2319Asn)
c.7193T>A (p.Ile2398Asn)
6g.75119169T>ACA364748126COL12A1c.7228A>T (p.Ile2410Phe)
c.3736A>T (p.Ile1246Phe)
c.142A>T (p.Ile48Phe)
c.3661A>T (p.Ile1221Phe)
c.6955A>T (p.Ile2319Phe)
c.7192A>T (p.Ile2398Phe)
6g.75119169T>CCA364748125COL12A1c.7228A>G (p.Ile2410Val)
c.3736A>G (p.Ile1246Val)
c.142A>G (p.Ile48Val)
c.3661A>G (p.Ile1221Val)
c.6955A>G (p.Ile2319Val)
c.7192A>G (p.Ile2398Val)
 dbSNP gnomAD v4
6g.75119169T>GCA364748124COL12A1c.7228A>C (p.Ile2410Leu)
c.3736A>C (p.Ile1246Leu)
c.142A>C (p.Ile48Leu)
c.3661A>C (p.Ile1221Leu)
c.6955A>C (p.Ile2319Leu)
c.7192A>C (p.Ile2398Leu)
6g.75119169T=CA1638933363COL12A1c.7228A= (p.Ile2410=)
c.3736A= (p.Ile1246=)
c.142A= (p.Ile48=)
c.3661A= (p.Ile1221=)
c.6955A= (p.Ile2319=)
c.7192A= (p.Ile2398=)
6g.75119170A>CCA364748129COL12A1c.7227T>G (p.Phe2409Leu)
c.3735T>G (p.Phe1245Leu)
c.141T>G (p.Phe47Leu)
c.3660T>G (p.Phe1220Leu)
c.6954T>G (p.Phe2318Leu)
c.7191T>G (p.Phe2397Leu)
6g.75119170A>GCA451111407COL12A1c.7227T>C (p.Phe2409=)
c.3735T>C (p.Phe1245=)
c.141T>C (p.Phe47=)
c.3660T>C (p.Phe1220=)
c.6954T>C (p.Phe2318=)
c.7191T>C (p.Phe2397=)
6g.75119170A>TCA364748131COL12A1c.7227T>A (p.Phe2409Leu)
c.3735T>A (p.Phe1245Leu)
c.141T>A (p.Phe47Leu)
c.3660T>A (p.Phe1220Leu)
c.6954T>A (p.Phe2318Leu)
c.7191T>A (p.Phe2397Leu)
6g.75119171A>CCA364748133COL12A1c.7226T>G (p.Phe2409Cys)
c.3734T>G (p.Phe1245Cys)
c.140T>G (p.Phe47Cys)
c.3659T>G (p.Phe1220Cys)
c.6953T>G (p.Phe2318Cys)
c.7190T>G (p.Phe2397Cys)
6g.75119171A>GCA364748135COL12A1c.7226T>C (p.Phe2409Ser)
c.3734T>C (p.Phe1245Ser)
c.140T>C (p.Phe47Ser)
c.3659T>C (p.Phe1220Ser)
c.6953T>C (p.Phe2318Ser)
c.7190T>C (p.Phe2397Ser)
6g.75119171A>TCA364748139COL12A1c.7226T>A (p.Phe2409Tyr)
c.3734T>A (p.Phe1245Tyr)
c.140T>A (p.Phe47Tyr)
c.3659T>A (p.Phe1220Tyr)
c.6953T>A (p.Phe2318Tyr)
c.7190T>A (p.Phe2397Tyr)
6g.75119172A>CCA364748142COL12A1c.7225T>G (p.Phe2409Val)
c.3733T>G (p.Phe1245Val)
c.139T>G (p.Phe47Val)
c.3658T>G (p.Phe1220Val)
c.6952T>G (p.Phe2318Val)
c.7189T>G (p.Phe2397Val)
6g.75119172A>GCA364748144COL12A1c.7225T>C (p.Phe2409Leu)
c.3733T>C (p.Phe1245Leu)
c.139T>C (p.Phe47Leu)
c.3658T>C (p.Phe1220Leu)
c.6952T>C (p.Phe2318Leu)
c.7189T>C (p.Phe2397Leu)
6g.75119172A>TCA364748147COL12A1c.7225T>A (p.Phe2409Ile)
c.3733T>A (p.Phe1245Ile)
c.139T>A (p.Phe47Ile)
c.3658T>A (p.Phe1220Ile)
c.6952T>A (p.Phe2318Ile)
c.7189T>A (p.Phe2397Ile)
6g.75119173C>ACA451111408COL12A1c.7224G>T (p.Thr2408=)
c.3732G>T (p.Thr1244=)
c.138G>T (p.Thr46=)
c.3657G>T (p.Thr1219=)
c.6951G>T (p.Thr2317=)
c.7188G>T (p.Thr2396=)
6g.75119173C=CA1638933364COL12A1c.7224G= (p.Thr2408=)
c.3732G= (p.Thr1244=)
c.138G= (p.Thr46=)
c.3657G= (p.Thr1219=)
c.6951G= (p.Thr2317=)
c.7188G= (p.Thr2396=)
6g.75119173C>GCA451111409COL12A1c.7224G>C (p.Thr2408=)
c.3732G>C (p.Thr1244=)
c.138G>C (p.Thr46=)
c.3657G>C (p.Thr1219=)
c.6951G>C (p.Thr2317=)
c.7188G>C (p.Thr2396=)
6g.75119173C>TCA3892610COL12A1c.7224G>A (p.Thr2408=)
c.3732G>A (p.Thr1244=)
c.138G>A (p.Thr46=)
c.3657G>A (p.Thr1219=)
c.6951G>A (p.Thr2317=)
c.7188G>A (p.Thr2396=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.75119174G>ACA3892611COL12A1c.7223C>T (p.Thr2408Met)
c.3731C>T (p.Thr1244Met)
c.137C>T (p.Thr46Met)
c.3656C>T (p.Thr1219Met)
c.6950C>T (p.Thr2317Met)
c.7187C>T (p.Thr2396Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.75119174G>CCA141013935COL12A1c.7223C>G (p.Thr2408Arg)
c.3731C>G (p.Thr1244Arg)
c.137C>G (p.Thr46Arg)
c.3656C>G (p.Thr1219Arg)
c.6950C>G (p.Thr2317Arg)
c.7187C>G (p.Thr2396Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.75119174G=CA1638933365COL12A1c.7223C= (p.Thr2408=)
c.3731C= (p.Thr1244=)
c.137C= (p.Thr46=)
c.3656C= (p.Thr1219=)
c.6950C= (p.Thr2317=)
c.7187C= (p.Thr2396=)
6g.75119174G>TCA364748169COL12A1c.7223C>A (p.Thr2408Lys)
c.3731C>A (p.Thr1244Lys)
c.137C>A (p.Thr46Lys)
c.3656C>A (p.Thr1219Lys)
c.6950C>A (p.Thr2317Lys)
c.7187C>A (p.Thr2396Lys)
 gnomAD v4

Number of alleles fetched