Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189050552C=CA1315425000COL5A2c.3039+17G= (n.3039+17G=)
c.1878+17G= (n.1878+17G=)
c.2901+17G= (n.2901+17G=)
2g.189050552C>TCA1315425001COL5A2c.3039+17G>A (n.3039+17G>A)
c.1878+17G>A (n.1878+17G>A)
c.2901+17G>A (n.2901+17G>A)
 dbSNP
2g.189050553C>ACA2662317766COL5A2c.3039+16G>T (n.3039+16G>T)
c.1878+16G>T (n.1878+16G>T)
c.2901+16G>T (n.2901+16G>T)
 gnomAD v4
2g.189050553C=CA1315425002COL5A2c.3039+16G= (n.3039+16G=)
c.1878+16G= (n.1878+16G=)
c.2901+16G= (n.2901+16G=)
2g.189050553C>GCA2662317767COL5A2c.3039+16G>C (n.3039+16G>C)
c.1878+16G>C (n.1878+16G>C)
c.2901+16G>C (n.2901+16G>C)
 gnomAD v4
2g.189050553C>TCA2022133COL5A2c.3039+16G>A (n.3039+16G>A)
c.1878+16G>A (n.1878+16G>A)
c.2901+16G>A (n.2901+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050554G>ACA2022134COL5A2c.3039+15C>T (n.3039+15C>T)
c.1878+15C>T (n.1878+15C>T)
c.2901+15C>T (n.2901+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050554G=CA1315425003COL5A2c.3039+15C= (n.3039+15C=)
c.1878+15C= (n.1878+15C=)
c.2901+15C= (n.2901+15C=)
2g.189050554G>TCA658796131COL5A2c.3039+15C>A (n.3039+15C>A)
c.1878+15C>A (n.1878+15C>A)
c.2901+15C>A (n.2901+15C>A)
 ClinVar dbSNP gnomAD v4
2g.189050555A=CA1315425004COL5A2c.3039+14T= (n.3039+14T=)
c.1878+14T= (n.1878+14T=)
c.2901+14T= (n.2901+14T=)
2g.189050555A>CCA1315425005COL5A2c.3039+14T>G (n.3039+14T>G)
c.1878+14T>G (n.1878+14T>G)
c.2901+14T>G (n.2901+14T>G)
 dbSNP
2g.189050556T>ACA2753575558COL5A2c.3039+13A>T (n.3039+13A>T)
c.1878+13A>T (n.1878+13A>T)
c.2901+13A>T (n.2901+13A>T)
2g.189050556T>CCA62594978COL5A2c.3039+13A>G (n.3039+13A>G)
c.1878+13A>G (n.1878+13A>G)
c.2901+13A>G (n.2901+13A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050556T=CA1315425006COL5A2c.3039+13A= (n.3039+13A=)
c.1878+13A= (n.1878+13A=)
c.2901+13A= (n.2901+13A=)
2g.189050557G>ACA1315425008COL5A2c.3039+12C>T (n.3039+12C>T)
c.1878+12C>T (n.1878+12C>T)
c.2901+12C>T (n.2901+12C>T)
 dbSNP gnomAD v4
2g.189050557G=CA1315425007COL5A2c.3039+12C= (n.3039+12C=)
c.1878+12C= (n.1878+12C=)
c.2901+12C= (n.2901+12C=)
2g.189050557G>TCA2662317768COL5A2c.3039+12C>A (n.3039+12C>A)
c.1878+12C>A (n.1878+12C>A)
c.2901+12C>A (n.2901+12C>A)
 gnomAD v4
2g.189050558C>ACA2753575559COL5A2c.3039+11G>T (n.3039+11G>T)
c.1878+11G>T (n.1878+11G>T)
c.2901+11G>T (n.2901+11G>T)
2g.189050558C>TCA2662317769COL5A2c.3039+11G>A (n.3039+11G>A)
c.1878+11G>A (n.1878+11G>A)
c.2901+11G>A (n.2901+11G>A)
 gnomAD v4
2g.189050559A>GCA2662317770COL5A2c.3039+10T>C (n.3039+10T>C)
c.1878+10T>C (n.1878+10T>C)
c.2901+10T>C (n.2901+10T>C)
 gnomAD v4
2g.189050560G>ACA2662317771COL5A2c.3039+9C>T (n.3039+9C>T)
c.1878+9C>T (n.1878+9C>T)
c.2901+9C>T (n.2901+9C>T)
 gnomAD v4
2g.189050560G>TCA2662317772COL5A2c.3039+9C>A (n.3039+9C>A)
c.1878+9C>A (n.1878+9C>A)
c.2901+9C>A (n.2901+9C>A)
 gnomAD v4
2g.189050561C>TCA2739278111COL5A2c.3039+8G>A (n.3039+8G>A)
c.1878+8G>A (n.1878+8G>A)
c.2901+8G>A (n.2901+8G>A)
 ClinVar
2g.189050562T>CCA321754COL5A2c.3039+7A>G (n.3039+7A>G)
c.1878+7A>G (n.1878+7A>G)
c.2901+7A>G (n.2901+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050562T=CA1315425009COL5A2c.3039+7A= (n.3039+7A=)
c.1878+7A= (n.1878+7A=)
c.2901+7A= (n.2901+7A=)
2g.189050563A>TCA2662317773COL5A2c.3039+6T>A (n.3039+6T>A)
c.1878+6T>A (n.1878+6T>A)
c.2901+6T>A (n.2901+6T>A)
 gnomAD v4
2g.189050564C>ACA2753575560COL5A2c.3039+5G>T (n.3039+5G>T)
c.1878+5G>T (n.1878+5G>T)
c.2901+5G>T (n.2901+5G>T)
2g.189050565T>CCA2662317774COL5A2c.3039+4A>G (n.3039+4A>G)
c.1878+4A>G (n.1878+4A>G)
c.2901+4A>G (n.2901+4A>G)
 gnomAD v4
2g.189050566C>ACA2662317775COL5A2c.3039+3G>T (n.3039+3G>T)
c.1878+3G>T (n.1878+3G>T)
c.2901+3G>T (n.2901+3G>T)
 gnomAD v4
2g.189050566C=CA1315425010COL5A2c.3039+3G= (n.3039+3G=)
c.1878+3G= (n.1878+3G=)
c.2901+3G= (n.2901+3G=)
2g.189050566C>TCA62594983COL5A2c.3039+3G>A (n.3039+3G>A)
c.1878+3G>A (n.1878+3G>A)
c.2901+3G>A (n.2901+3G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189050567A>CCA349866759COL5A2c.3039+2T>G (n.3039+2T>G)
c.1878+2T>G (n.1878+2T>G)
c.2901+2T>G (n.2901+2T>G)
2g.189050567A>GCA349866760COL5A2c.3039+2T>C (n.3039+2T>C)
c.1878+2T>C (n.1878+2T>C)
c.2901+2T>C (n.2901+2T>C)
2g.189050567A>TCA349866763COL5A2c.3039+2T>A (n.3039+2T>A)
c.1878+2T>A (n.1878+2T>A)
c.2901+2T>A (n.2901+2T>A)
2g.189050568C>ACA349866766COL5A2c.3039+1G>T (n.3039+1G>T)
c.1878+1G>T (n.1878+1G>T)
c.2901+1G>T (n.2901+1G>T)
2g.189050568C>GCA349866768COL5A2c.3039+1G>C (n.3039+1G>C)
c.1878+1G>C (n.1878+1G>C)
c.2901+1G>C (n.2901+1G>C)
2g.189050568C>TCA349866769COL5A2c.3039+1G>A (n.3039+1G>A)
c.1878+1G>A (n.1878+1G>A)
c.2901+1G>A (n.2901+1G>A)
2g.189050569C>ACA430321945COL5A2c.3039G>T (p.Ala1013=)
c.1878G>T (p.Ala626=)
c.2901G>T (p.Ala967=)
2g.189050569C=CA1315425011COL5A2c.3039G= (p.Ala1013=)
c.1878G= (p.Ala626=)
c.2901G= (p.Ala967=)
2g.189050569C>GCA430321946COL5A2c.3039G>C (p.Ala1013=)
c.1878G>C (p.Ala626=)
c.2901G>C (p.Ala967=)
 dbSNP
2g.189050569C>TCA2022135COL5A2c.3039G>A (p.Ala1013=)
c.1878G>A (p.Ala626=)
c.2901G>A (p.Ala967=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050570G>ACA2022136COL5A2c.3038C>T (p.Ala1013Val)
c.1877C>T (p.Ala626Val)
c.2900C>T (p.Ala967Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050570G>CCA349866775COL5A2c.3038C>G (p.Ala1013Gly)
c.1877C>G (p.Ala626Gly)
c.2900C>G (p.Ala967Gly)
2g.189050570G=CA1315425012COL5A2c.3038C= (p.Ala1013=)
c.1877C= (p.Ala626=)
c.2900C= (p.Ala967=)
2g.189050570G>TCA349866777COL5A2c.3038C>A (p.Ala1013Glu)
c.1877C>A (p.Ala626Glu)
c.2900C>A (p.Ala967Glu)
 gnomAD v4 COSMIC
2g.189050571C>ACA349866782COL5A2c.3037G>T (p.Ala1013Ser)
c.1876G>T (p.Ala626Ser)
c.2899G>T (p.Ala967Ser)
 gnomAD v4
2g.189050571C>GCA349866779COL5A2c.3037G>C (p.Ala1013Pro)
c.1876G>C (p.Ala626Pro)
c.2899G>C (p.Ala967Pro)
2g.189050571C>TCA349866780COL5A2c.3037G>A (p.Ala1013Thr)
c.1876G>A (p.Ala626Thr)
c.2899G>A (p.Ala967Thr)
2g.189050572T>ACA430321952COL5A2c.3036A>T (p.Pro1012=)
c.1875A>T (p.Pro625=)
c.2898A>T (p.Pro966=)
2g.189050572T>CCA430321958COL5A2c.3036A>G (p.Pro1012=)
c.1875A>G (p.Pro625=)
c.2898A>G (p.Pro966=)
 gnomAD v4
2g.189050572T>GCA430321960COL5A2c.3036A>C (p.Pro1012=)
c.1875A>C (p.Pro625=)
c.2898A>C (p.Pro966=)
2g.189050573G>ACA349866785COL5A2c.3035C>T (p.Pro1012Leu)
c.1874C>T (p.Pro625Leu)
c.2897C>T (p.Pro966Leu)
 gnomAD v4
2g.189050573G>CCA349866787COL5A2c.3035C>G (p.Pro1012Arg)
c.1874C>G (p.Pro625Arg)
c.2897C>G (p.Pro966Arg)
2g.189050573G>TCA349866789COL5A2c.3035C>A (p.Pro1012Gln)
c.1874C>A (p.Pro625Gln)
c.2897C>A (p.Pro966Gln)
 ClinVar
2g.189050574G>ACA349866792COL5A2c.3034C>T (p.Pro1012Ser)
c.1873C>T (p.Pro625Ser)
c.2896C>T (p.Pro966Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189050574G>CCA349866794COL5A2c.3034C>G (p.Pro1012Ala)
c.1873C>G (p.Pro625Ala)
c.2896C>G (p.Pro966Ala)
2g.189050574G=CA1315425013COL5A2c.3034C= (p.Pro1012=)
c.1873C= (p.Pro625=)
c.2896C= (p.Pro966=)
2g.189050574G>TCA349866797COL5A2c.3034C>A (p.Pro1012Thr)
c.1873C>A (p.Pro625Thr)
c.2896C>A (p.Pro966Thr)
2g.189050575G>ACA430321973COL5A2c.3033C>T (p.Gly1011=)
c.1872C>T (p.Gly624=)
c.2895C>T (p.Gly965=)
 gnomAD v4
2g.189050575G>CCA430321970COL5A2c.3033C>G (p.Gly1011=)
c.1872C>G (p.Gly624=)
c.2895C>G (p.Gly965=)
2g.189050575G>TCA430321969COL5A2c.3033C>A (p.Gly1011=)
c.1872C>A (p.Gly624=)
c.2895C>A (p.Gly965=)
2g.189050576C>ACA349866800COL5A2c.3032G>T (p.Gly1011Val)
c.1871G>T (p.Gly624Val)
c.2894G>T (p.Gly965Val)
 gnomAD v4
2g.189050576C>GCA349866802COL5A2c.3032G>C (p.Gly1011Ala)
c.1871G>C (p.Gly624Ala)
c.2894G>C (p.Gly965Ala)
2g.189050576C>TCA349866804COL5A2c.3032G>A (p.Gly1011Asp)
c.1871G>A (p.Gly624Asp)
c.2894G>A (p.Gly965Asp)
 gnomAD v4
2g.189050577C>ACA349866807COL5A2c.3031G>T (p.Gly1011Cys)
c.1870G>T (p.Gly624Cys)
c.2893G>T (p.Gly965Cys)
2g.189050577C>GCA349866810COL5A2c.3031G>C (p.Gly1011Arg)
c.1870G>C (p.Gly624Arg)
c.2893G>C (p.Gly965Arg)
2g.189050577C>TCA349866811COL5A2c.3031G>A (p.Gly1011Ser)
c.1870G>A (p.Gly624Ser)
c.2893G>A (p.Gly965Ser)
2g.189050578T>ACA430321985COL5A2c.3030A>T (p.Pro1010=)
c.1869A>T (p.Pro623=)
c.2892A>T (p.Pro964=)
 gnomAD v4
2g.189050578T>CCA430321984COL5A2c.3030A>G (p.Pro1010=)
c.1869A>G (p.Pro623=)
c.2892A>G (p.Pro964=)
2g.189050578T>GCA430321980COL5A2c.3030A>C (p.Pro1010=)
c.1869A>C (p.Pro623=)
c.2892A>C (p.Pro964=)
2g.189050579G>ACA349866813COL5A2c.3029C>T (p.Pro1010Leu)
c.1868C>T (p.Pro623Leu)
c.2891C>T (p.Pro964Leu)
2g.189050579G>CCA349866817COL5A2c.3029C>G (p.Pro1010Arg)
c.1868C>G (p.Pro623Arg)
c.2891C>G (p.Pro964Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.189050579G=CA1315425014COL5A2c.3029C= (p.Pro1010=)
c.1868C= (p.Pro623=)
c.2891C= (p.Pro964=)
2g.189050579G>TCA349866815COL5A2c.3029C>A (p.Pro1010Gln)
c.1868C>A (p.Pro623Gln)
c.2891C>A (p.Pro964Gln)
 gnomAD v4
2g.189050580G>ACA349866819COL5A2c.3028C>T (p.Pro1010Ser)
c.1867C>T (p.Pro623Ser)
c.2890C>T (p.Pro964Ser)
 gnomAD v4
2g.189050580G>CCA349866824COL5A2c.3028C>G (p.Pro1010Ala)
c.1867C>G (p.Pro623Ala)
c.2890C>G (p.Pro964Ala)
2g.189050580G>TCA349866820COL5A2c.3028C>A (p.Pro1010Thr)
c.1867C>A (p.Pro623Thr)
c.2890C>A (p.Pro964Thr)
2g.189050581T>ACA430321990COL5A2c.3027A>T (p.Leu1009=)
c.1866A>T (p.Leu622=)
c.2889A>T (p.Leu963=)
2g.189050581T>CCA430321992COL5A2c.3027A>G (p.Leu1009=)
c.1866A>G (p.Leu622=)
c.2889A>G (p.Leu963=)
 dbSNP gnomAD v3 gnomAD v4
2g.189050581T>GCA430321991COL5A2c.3027A>C (p.Leu1009=)
c.1866A>C (p.Leu622=)
c.2889A>C (p.Leu963=)
2g.189050581T=CA1315425015COL5A2c.3027A= (p.Leu1009=)
c.1866A= (p.Leu622=)
c.2889A= (p.Leu963=)
2g.189050582A>CCA349866830COL5A2c.3026T>G (p.Leu1009Arg)
c.1865T>G (p.Leu622Arg)
c.2888T>G (p.Leu963Arg)
2g.189050582A>GCA349866832COL5A2c.3026T>C (p.Leu1009Pro)
c.1865T>C (p.Leu622Pro)
c.2888T>C (p.Leu963Pro)
2g.189050582A>TCA349866834COL5A2c.3026T>A (p.Leu1009Gln)
c.1865T>A (p.Leu622Gln)
c.2888T>A (p.Leu963Gln)
2g.189050583G>ACA430321994COL5A2c.3025C>T (p.Leu1009=)
c.1864C>T (p.Leu622=)
c.2887C>T (p.Leu963=)
 gnomAD v4
2g.189050583G>CCA349866836COL5A2c.3025C>G (p.Leu1009Val)
c.1864C>G (p.Leu622Val)
c.2887C>G (p.Leu963Val)
2g.189050583G>TCA349866839COL5A2c.3025C>A (p.Leu1009Ile)
c.1864C>A (p.Leu622Ile)
c.2887C>A (p.Leu963Ile)
 gnomAD v4
2g.189050584G>ACA62595008COL5A2c.3024C>T (p.Gly1008=)
c.1863C>T (p.Gly621=)
c.2886C>T (p.Gly962=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050584G>CCA430321997COL5A2c.3024C>G (p.Gly1008=)
c.1863C>G (p.Gly621=)
c.2886C>G (p.Gly962=)
2g.189050584G=CA1315425016COL5A2c.3024C= (p.Gly1008=)
c.1863C= (p.Gly621=)
c.2886C= (p.Gly962=)
2g.189050584G>TCA430321998COL5A2c.3024C>A (p.Gly1008=)
c.1863C>A (p.Gly621=)
c.2886C>A (p.Gly962=)
 dbSNP gnomAD v4
2g.189050585C>ACA349866841COL5A2c.3023G>T (p.Gly1008Val)
c.1862G>T (p.Gly621Val)
c.2885G>T (p.Gly962Val)
2g.189050585C>GCA349866844COL5A2c.3023G>C (p.Gly1008Ala)
c.1862G>C (p.Gly621Ala)
c.2885G>C (p.Gly962Ala)
2g.189050585C>TCA349866850COL5A2c.3023G>A (p.Gly1008Asp)
c.1862G>A (p.Gly621Asp)
c.2885G>A (p.Gly962Asp)
 gnomAD v4
2g.189050586C>ACA349866852COL5A2c.3022G>T (p.Gly1008Cys)
c.1861G>T (p.Gly621Cys)
c.2884G>T (p.Gly962Cys)
 gnomAD v4
2g.189050586C=CA1315425017COL5A2c.3022G= (p.Gly1008=)
c.1861G= (p.Gly621=)
c.2884G= (p.Gly962=)
2g.189050586C>GCA349866854COL5A2c.3022G>C (p.Gly1008Arg)
c.1861G>C (p.Gly621Arg)
c.2884G>C (p.Gly962Arg)
2g.189050586C>TCA62595017COL5A2c.3022G>A (p.Gly1008Ser)
c.1861G>A (p.Gly621Ser)
c.2884G>A (p.Gly962Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050587G>ACA2022137COL5A2c.3021C>T (p.Pro1007=)
c.1860C>T (p.Pro620=)
c.2883C>T (p.Pro961=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050587G>CCA430322011COL5A2c.3021C>G (p.Pro1007=)
c.1860C>G (p.Pro620=)
c.2883C>G (p.Pro961=)
2g.189050587G=CA1315425018COL5A2c.3021C= (p.Pro1007=)
c.1860C= (p.Pro620=)
c.2883C= (p.Pro961=)
2g.189050587G>TCA430322018COL5A2c.3021C>A (p.Pro1007=)
c.1860C>A (p.Pro620=)
c.2883C>A (p.Pro961=)
 dbSNP gnomAD v4
2g.189050587_189050588insATCA538451957COL5A2c.3020_3021insAT (p.Gly1008SerfsTer13)
c.1859_1860insAT (p.Gly621SerfsTer13)
c.2882_2883insAT (p.Gly962SerfsTer13)
 dbSNP gnomAD v2 gnomAD v4
2g.189050588G>ACA349866860COL5A2c.3020C>T (p.Pro1007Leu)
c.1859C>T (p.Pro620Leu)
c.2882C>T (p.Pro961Leu)
 gnomAD v2 gnomAD v4
2g.189050588G>CCA349866869COL5A2c.3020C>G (p.Pro1007Arg)
c.1859C>G (p.Pro620Arg)
c.2882C>G (p.Pro961Arg)
2g.189050588G>TCA349866864COL5A2c.3020C>A (p.Pro1007His)
c.1859C>A (p.Pro620His)
c.2882C>A (p.Pro961His)
 gnomAD v4
2g.189050588_189050590delinsGGCCA1315425019COL5A2c.3018_3020delinsGCC (p.Met1006=)
c.1857_1859delinsGCC (p.Met619=)
c.2880_2882delinsGCC (p.Met960=)
2g.189050589G>ACA349866871COL5A2c.3019C>T (p.Pro1007Ser)
c.1858C>T (p.Pro620Ser)
c.2881C>T (p.Pro961Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189050589G>CCA349866872COL5A2c.3019C>G (p.Pro1007Ala)
c.1858C>G (p.Pro620Ala)
c.2881C>G (p.Pro961Ala)
2g.189050589G=CA1315425020COL5A2c.3019C= (p.Pro1007=)
c.1858C= (p.Pro620=)
c.2881C= (p.Pro961=)
2g.189050589G>TCA349866875COL5A2c.3019C>A (p.Pro1007Thr)
c.1858C>A (p.Pro620Thr)
c.2881C>A (p.Pro961Thr)
 gnomAD v4
2g.189050589_189050590delCA538451958COL5A2c.3018_3019del (p.Met1006IlefsTer22)
c.1857_1858del (p.Met619IlefsTer22)
c.2880_2881del (p.Met960IlefsTer22)
 dbSNP gnomAD v2 gnomAD v4
2g.189050590C>ACA349866877COL5A2c.3018G>T (p.Met1006Ile)
c.1857G>T (p.Met619Ile)
c.2880G>T (p.Met960Ile)
 gnomAD v4
2g.189050590C>GCA349866878COL5A2c.3018G>C (p.Met1006Ile)
c.1857G>C (p.Met619Ile)
c.2880G>C (p.Met960Ile)
2g.189050590C>TCA349866880COL5A2c.3018G>A (p.Met1006Ile)
c.1857G>A (p.Met619Ile)
c.2880G>A (p.Met960Ile)
 gnomAD v4
2g.189050591A=CA1315425021COL5A2c.3017T= (p.Met1006=)
c.1856T= (p.Met619=)
c.2879T= (p.Met960=)
2g.189050591A>CCA349866885COL5A2c.3017T>G (p.Met1006Arg)
c.1856T>G (p.Met619Arg)
c.2879T>G (p.Met960Arg)
2g.189050591A>GCA349866891COL5A2c.3017T>C (p.Met1006Thr)
c.1856T>C (p.Met619Thr)
c.2879T>C (p.Met960Thr)
2g.189050591A>TCA62595025COL5A2c.3017T>A (p.Met1006Lys)
c.1856T>A (p.Met619Lys)
c.2879T>A (p.Met960Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050592T>ACA349866897COL5A2c.3016A>T (p.Met1006Leu)
c.1855A>T (p.Met619Leu)
c.2878A>T (p.Met960Leu)
2g.189050592T>CCA349866898COL5A2c.3016A>G (p.Met1006Val)
c.1855A>G (p.Met619Val)
c.2878A>G (p.Met960Val)
2g.189050592T>GCA349866895COL5A2c.3016A>C (p.Met1006Leu)
c.1855A>C (p.Met619Leu)
c.2878A>C (p.Met960Leu)
 gnomAD v4
2g.189050593G>ACA430322034COL5A2c.3015C>T (p.Gly1005=)
c.1854C>T (p.Gly618=)
c.2877C>T (p.Gly959=)
 ClinVar
2g.189050593G>CCA430322036COL5A2c.3015C>G (p.Gly1005=)
c.1854C>G (p.Gly618=)
c.2877C>G (p.Gly959=)
2g.189050593G>TCA430322038COL5A2c.3015C>A (p.Gly1005=)
c.1854C>A (p.Gly618=)
c.2877C>A (p.Gly959=)
 gnomAD v4
2g.189050594C>ACA349866901COL5A2c.3014G>T (p.Gly1005Val)
c.1853G>T (p.Gly618Val)
c.2876G>T (p.Gly959Val)
 gnomAD v4
2g.189050594C=CA1315425022COL5A2c.3014G= (p.Gly1005=)
c.1853G= (p.Gly618=)
c.2876G= (p.Gly959=)
2g.189050594C>GCA62595031COL5A2c.3014G>C (p.Gly1005Ala)
c.1853G>C (p.Gly618Ala)
c.2876G>C (p.Gly959Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189050594C>TCA349866904COL5A2c.3014G>A (p.Gly1005Asp)
c.1853G>A (p.Gly618Asp)
c.2876G>A (p.Gly959Asp)
 gnomAD v4 COSMIC
2g.189050595C>ACA349866908COL5A2c.3013G>T (p.Gly1005Cys)
c.1852G>T (p.Gly618Cys)
c.2875G>T (p.Gly959Cys)
 gnomAD v4
2g.189050595C>GCA349866911COL5A2c.3013G>C (p.Gly1005Arg)
c.1852G>C (p.Gly618Arg)
c.2875G>C (p.Gly959Arg)
2g.189050595C>TCA349866912COL5A2c.3013G>A (p.Gly1005Ser)
c.1852G>A (p.Gly618Ser)
c.2875G>A (p.Gly959Ser)
 gnomAD v4
2g.189050602_189050603delCA538451959COL5A2c.3012_3013del (p.Gly1005HisfsTer23)
c.1851_1852del (p.Gly618HisfsTer23)
c.2874_2875del (p.Gly959HisfsTer23)
 gnomAD v2 COSMIC
2g.189050600_189050603delCA2662317776COL5A2c.3010_3013del (p.Arg1004AlafsTer15)
c.1849_1852del (p.Arg617AlafsTer15)
c.2872_2875del (p.Arg958AlafsTer15)
 gnomAD v4
2g.189050596T>ACA349866916COL5A2c.3012A>T (p.Arg1004Ser)
c.1851A>T (p.Arg617Ser)
c.2874A>T (p.Arg958Ser)
2g.189050596T>CCA430322039COL5A2c.3012A>G (p.Arg1004=)
c.1851A>G (p.Arg617=)
c.2874A>G (p.Arg958=)
 gnomAD v4
2g.189050596T>GCA349866918COL5A2c.3012A>C (p.Arg1004Ser)
c.1851A>C (p.Arg617Ser)
c.2874A>C (p.Arg958Ser)
2g.189050597C>ACA349866919COL5A2c.3011G>T (p.Arg1004Ile)
c.1850G>T (p.Arg617Ile)
c.2873G>T (p.Arg958Ile)
 gnomAD v4
2g.189050597C=CA1315425023COL5A2c.3011G= (p.Arg1004=)
c.1850G= (p.Arg617=)
c.2873G= (p.Arg958=)
2g.189050597C>GCA349866921COL5A2c.3011G>C (p.Arg1004Thr)
c.1850G>C (p.Arg617Thr)
c.2873G>C (p.Arg958Thr)
2g.189050597C>TCA2022138COL5A2c.3011G>A (p.Arg1004Lys)
c.1850G>A (p.Arg617Lys)
c.2873G>A (p.Arg958Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050598T>ACA349866926COL5A2c.3010A>T (p.Arg1004Ter)
c.1849A>T (p.Arg617Ter)
c.2872A>T (p.Arg958Ter)
 gnomAD v4
2g.189050598T>CCA349866928COL5A2c.3010A>G (p.Arg1004Gly)
c.1849A>G (p.Arg617Gly)
c.2872A>G (p.Arg958Gly)
2g.189050598T>GCA430322048COL5A2c.3010A>C (p.Arg1004=)
c.1849A>C (p.Arg617=)
c.2872A>C (p.Arg958=)
2g.189050599C>ACA349866932COL5A2c.3009G>T (p.Glu1003Asp)
c.1848G>T (p.Glu616Asp)
c.2871G>T (p.Glu957Asp)
 gnomAD v4
2g.189050599C>GCA349866930COL5A2c.3009G>C (p.Glu1003Asp)
c.1848G>C (p.Glu616Asp)
c.2871G>C (p.Glu957Asp)
2g.189050599C>TCA430322050COL5A2c.3009G>A (p.Glu1003=)
c.1848G>A (p.Glu616=)
c.2871G>A (p.Glu957=)
2g.189050600T>ACA349866934COL5A2c.3008A>T (p.Glu1003Val)
c.1847A>T (p.Glu616Val)
c.2870A>T (p.Glu957Val)
2g.189050600T>CCA349866936COL5A2c.3008A>G (p.Glu1003Gly)
c.1847A>G (p.Glu616Gly)
c.2870A>G (p.Glu957Gly)
2g.189050600T>GCA349866938COL5A2c.3008A>C (p.Glu1003Ala)
c.1847A>C (p.Glu616Ala)
c.2870A>C (p.Glu957Ala)
2g.189050601C>ACA349866942COL5A2c.3007G>T (p.Glu1003Ter)
c.1846G>T (p.Glu616Ter)
c.2869G>T (p.Glu957Ter)
 gnomAD v4
2g.189050601C>GCA349866944COL5A2c.3007G>C (p.Glu1003Gln)
c.1846G>C (p.Glu616Gln)
c.2869G>C (p.Glu957Gln)
2g.189050601C>TCA349866946COL5A2c.3007G>A (p.Glu1003Lys)
c.1846G>A (p.Glu616Lys)
c.2869G>A (p.Glu957Lys)
2g.189050602T>ACA2022139COL5A2c.3006A>T (p.Gly1002=)
c.1845A>T (p.Gly615=)
c.2868A>T (p.Gly956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050602T>CCA62595040COL5A2c.3006A>G (p.Gly1002=)
c.1845A>G (p.Gly615=)
c.2868A>G (p.Gly956=)
 dbSNP
2g.189050602T>GCA430322061COL5A2c.3006A>C (p.Gly1002=)
c.1845A>C (p.Gly615=)
c.2868A>C (p.Gly956=)
 dbSNP gnomAD v2 gnomAD v4
2g.189050602T=CA1315425024COL5A2c.3006A= (p.Gly1002=)
c.1845A= (p.Gly615=)
c.2868A= (p.Gly956=)
2g.189050603C>ACA349866957COL5A2c.3005G>T (p.Gly1002Val)
c.1844G>T (p.Gly615Val)
c.2867G>T (p.Gly956Val)
 gnomAD v4
2g.189050603C>GCA349866959COL5A2c.3005G>C (p.Gly1002Ala)
c.1844G>C (p.Gly615Ala)
c.2867G>C (p.Gly956Ala)
2g.189050603C>TCA349866961COL5A2c.3005G>A (p.Gly1002Glu)
c.1844G>A (p.Gly615Glu)
c.2867G>A (p.Gly956Glu)
 gnomAD v4
2g.189050604C>ACA349866964COL5A2c.3004G>T (p.Gly1002Ter)
c.1843G>T (p.Gly615Ter)
c.2866G>T (p.Gly956Ter)
 gnomAD v4
2g.189050604C>GCA349866966COL5A2c.3004G>C (p.Gly1002Arg)
c.1843G>C (p.Gly615Arg)
c.2866G>C (p.Gly956Arg)
2g.189050604C>TCA349866968COL5A2c.3004G>A (p.Gly1002Arg)
c.1843G>A (p.Gly615Arg)
c.2866G>A (p.Gly956Arg)
 gnomAD v4
2g.189050605A=CA1315425025COL5A2c.3003T= (p.Arg1001=)
c.1842T= (p.Arg614=)
c.2865T= (p.Arg955=)
2g.189050605A>CCA430322070COL5A2c.3003T>G (p.Arg1001=)
c.1842T>G (p.Arg614=)
c.2865T>G (p.Arg955=)
2g.189050605A>GCA430322071COL5A2c.3003T>C (p.Arg1001=)
c.1842T>C (p.Arg614=)
c.2865T>C (p.Arg955=)
2g.189050605A>TCA430322072COL5A2c.3003T>A (p.Arg1001=)
c.1842T>A (p.Arg614=)
c.2865T>A (p.Arg955=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050606C>ACA349866973COL5A2c.3002G>T (p.Arg1001Leu)
c.1841G>T (p.Arg614Leu)
c.2864G>T (p.Arg955Leu)
 gnomAD v4
2g.189050606C=CA1315425026COL5A2c.3002G= (p.Arg1001=)
c.1841G= (p.Arg614=)
c.2864G= (p.Arg955=)
2g.189050606C>GCA349866975COL5A2c.3002G>C (p.Arg1001Pro)
c.1841G>C (p.Arg614Pro)
c.2864G>C (p.Arg955Pro)
 ClinVar
2g.189050606C>TCA349866971COL5A2c.3002G>A (p.Arg1001His)
c.1841G>A (p.Arg614His)
c.2864G>A (p.Arg955His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050607G>ACA320292COL5A2c.3001C>T (p.Arg1001Cys)
c.1840C>T (p.Arg614Cys)
c.2863C>T (p.Arg955Cys)
 ClinVar dbSNP gnomAD v4
2g.189050607G>CCA349866976COL5A2c.3001C>G (p.Arg1001Gly)
c.1840C>G (p.Arg614Gly)
c.2863C>G (p.Arg955Gly)
 ClinVar
2g.189050607G=CA1315425027COL5A2c.3001C= (p.Arg1001=)
c.1840C= (p.Arg614=)
c.2863C= (p.Arg955=)
2g.189050607G>TCA349866979COL5A2c.3001C>A (p.Arg1001Ser)
c.1840C>A (p.Arg614Ser)
c.2863C>A (p.Arg955Ser)
2g.189050608T>ACA349866981COL5A2c.3000A>T (p.Gln1000His)
c.1839A>T (p.Gln613His)
c.2862A>T (p.Gln954His)
2g.189050608T>CCA430322081COL5A2c.3000A>G (p.Gln1000=)
c.1839A>G (p.Gln613=)
c.2862A>G (p.Gln954=)
 gnomAD v4
2g.189050608T>GCA349866984COL5A2c.3000A>C (p.Gln1000His)
c.1839A>C (p.Gln613His)
c.2862A>C (p.Gln954His)
 gnomAD v4
2g.189050609T>ACA349866985COL5A2c.2999A>T (p.Gln1000Leu)
c.1838A>T (p.Gln613Leu)
c.2861A>T (p.Gln954Leu)
2g.189050609T>CCA349866986COL5A2c.2999A>G (p.Gln1000Arg)
c.1838A>G (p.Gln613Arg)
c.2861A>G (p.Gln954Arg)
 gnomAD v4
2g.189050609T>GCA349866988COL5A2c.2999A>C (p.Gln1000Pro)
c.1838A>C (p.Gln613Pro)
c.2861A>C (p.Gln954Pro)
2g.189050610G>ACA349866991COL5A2c.2998C>T (p.Gln1000Ter)
c.1837C>T (p.Gln613Ter)
c.2860C>T (p.Gln954Ter)
 gnomAD v4
2g.189050610G>CCA349866992COL5A2c.2998C>G (p.Gln1000Glu)
c.1837C>G (p.Gln613Glu)
c.2860C>G (p.Gln954Glu)
 gnomAD v4
2g.189050610G>TCA349866995COL5A2c.2998C>A (p.Gln1000Lys)
c.1837C>A (p.Gln613Lys)
c.2860C>A (p.Gln954Lys)
 gnomAD v4
2g.189050611C>ACA430322089COL5A2c.2997G>T (p.Gly999=)
c.1836G>T (p.Gly612=)
c.2859G>T (p.Gly953=)
 gnomAD v4
2g.189050611C=CA1315425028COL5A2c.2997G= (p.Gly999=)
c.1836G= (p.Gly612=)
c.2859G= (p.Gly953=)
2g.189050611C>GCA430322090COL5A2c.2997G>C (p.Gly999=)
c.1836G>C (p.Gly612=)
c.2859G>C (p.Gly953=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189050611C>TCA2022140COL5A2c.2997G>A (p.Gly999=)
c.1836G>A (p.Gly612=)
c.2859G>A (p.Gly953=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189050613delCA2662317777COL5A2c.2997del (p.Gln1000AsnfsTer20)
c.1836del (p.Gln613AsnfsTer20)
c.2859del (p.Gln954AsnfsTer20)
 gnomAD v4
2g.189050612C>ACA349866999COL5A2c.2996G>T (p.Gly999Val)
c.1835G>T (p.Gly612Val)
c.2858G>T (p.Gly953Val)
 gnomAD v4
2g.189050612C>GCA349867000COL5A2c.2996G>C (p.Gly999Ala)
c.1835G>C (p.Gly612Ala)
c.2858G>C (p.Gly953Ala)
2g.189050612C>TCA349867003COL5A2c.2996G>A (p.Gly999Glu)
c.1835G>A (p.Gly612Glu)
c.2858G>A (p.Gly953Glu)
 gnomAD v4
2g.189050613C>ACA349867008COL5A2c.2995G>T (p.Gly999Trp)
c.1834G>T (p.Gly612Trp)
c.2857G>T (p.Gly953Trp)
 gnomAD v4
2g.189050613C>GCA349867007COL5A2c.2995G>C (p.Gly999Arg)
c.1834G>C (p.Gly612Arg)
c.2857G>C (p.Gly953Arg)
2g.189050613C>TCA349867005COL5A2c.2995G>A (p.Gly999Arg)
c.1834G>A (p.Gly612Arg)
c.2857G>A (p.Gly953Arg)
 gnomAD v4
2g.189050614A=CA1315425029COL5A2c.2994T= (p.Pro998=)
c.1833T= (p.Pro611=)
c.2856T= (p.Pro952=)
2g.189050614A>CCA430322097COL5A2c.2994T>G (p.Pro998=)
c.1833T>G (p.Pro611=)
c.2856T>G (p.Pro952=)
 dbSNP gnomAD v4
2g.189050614A>GCA430322099COL5A2c.2994T>C (p.Pro998=)
c.1833T>C (p.Pro611=)
c.2856T>C (p.Pro952=)
2g.189050614A>TCA430322107COL5A2c.2994T>A (p.Pro998=)
c.1833T>A (p.Pro611=)
c.2856T>A (p.Pro952=)
 gnomAD v4
2g.189050615G>ACA321093COL5A2c.2993C>T (p.Pro998Leu)
c.1832C>T (p.Pro611Leu)
c.2855C>T (p.Pro952Leu)
 ClinVar dbSNP gnomAD v4
2g.189050615G>CCA349867011COL5A2c.2993C>G (p.Pro998Arg)
c.1832C>G (p.Pro611Arg)
c.2855C>G (p.Pro952Arg)
2g.189050615G=CA1315425030COL5A2c.2993C= (p.Pro998=)
c.1832C= (p.Pro611=)
c.2855C= (p.Pro952=)
2g.189050615G>TCA349867013COL5A2c.2993C>A (p.Pro998His)
c.1832C>A (p.Pro611His)
c.2855C>A (p.Pro952His)
 gnomAD v4
2g.189050616G>ACA62595049COL5A2c.2992C>T (p.Pro998Ser)
c.1831C>T (p.Pro611Ser)
c.2854C>T (p.Pro952Ser)
 dbSNP gnomAD v4
2g.189050616G>CCA349867016COL5A2c.2992C>G (p.Pro998Ala)
c.1831C>G (p.Pro611Ala)
c.2854C>G (p.Pro952Ala)
 gnomAD v4
2g.189050616G=CA1315425031COL5A2c.2992C= (p.Pro998=)
c.1831C= (p.Pro611=)
c.2854C= (p.Pro952=)
2g.189050616G>TCA349867018COL5A2c.2992C>A (p.Pro998Thr)
c.1831C>A (p.Pro611Thr)
c.2854C>A (p.Pro952Thr)
 gnomAD v4
2g.189050617C>ACA349867020COL5A2c.2991G>T (p.Met997Ile)
c.1830G>T (p.Met610Ile)
c.2853G>T (p.Met951Ile)
 gnomAD v4
2g.189050617C=CA1315425032COL5A2c.2991G= (p.Met997=)
c.1830G= (p.Met610=)
c.2853G= (p.Met951=)
2g.189050617C>GCA349867023COL5A2c.2991G>C (p.Met997Ile)
c.1830G>C (p.Met610Ile)
c.2853G>C (p.Met951Ile)
2g.189050617C>TCA349867025COL5A2c.2991G>A (p.Met997Ile)
c.1830G>A (p.Met610Ile)
c.2853G>A (p.Met951Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050618A>CCA349867028COL5A2c.2990T>G (p.Met997Arg)
c.1829T>G (p.Met610Arg)
c.2852T>G (p.Met951Arg)
2g.189050618A>GCA349867029COL5A2c.2990T>C (p.Met997Thr)
c.1829T>C (p.Met610Thr)
c.2852T>C (p.Met951Thr)
 gnomAD v4
2g.189050618A>TCA349867030COL5A2c.2990T>A (p.Met997Lys)
c.1829T>A (p.Met610Lys)
c.2852T>A (p.Met951Lys)
2g.189050619T>ACA349867037COL5A2c.2989A>T (p.Met997Leu)
c.1828A>T (p.Met610Leu)
c.2851A>T (p.Met951Leu)
 dbSNP gnomAD v4
2g.189050619T>CCA349867036COL5A2c.2989A>G (p.Met997Val)
c.1828A>G (p.Met610Val)
c.2851A>G (p.Met951Val)
2g.189050619T>GCA349867033COL5A2c.2989A>C (p.Met997Leu)
c.1828A>C (p.Met610Leu)
c.2851A>C (p.Met951Leu)
 dbSNP
2g.189050619T=CA1315425033COL5A2c.2989A= (p.Met997=)
c.1828A= (p.Met610=)
c.2851A= (p.Met951=)
2g.189050620G>ACA2022141COL5A2c.2988C>T (p.Gly996=)
c.1827C>T (p.Gly609=)
c.2850C>T (p.Gly950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050620G>CCA430322114COL5A2c.2988C>G (p.Gly996=)
c.1827C>G (p.Gly609=)
c.2850C>G (p.Gly950=)
 gnomAD v4
2g.189050620G=CA1315425034COL5A2c.2988C= (p.Gly996=)
c.1827C= (p.Gly609=)
c.2850C= (p.Gly950=)
2g.189050620G>TCA430322115COL5A2c.2988C>A (p.Gly996=)
c.1827C>A (p.Gly609=)
c.2850C>A (p.Gly950=)
 gnomAD v4
2g.189050621C>ACA349867041COL5A2c.2987G>T (p.Gly996Val)
c.1826G>T (p.Gly609Val)
c.2849G>T (p.Gly950Val)
 gnomAD v4
2g.189050621C=CA1315425035COL5A2c.2987G= (p.Gly996=)
c.1826G= (p.Gly609=)
c.2849G= (p.Gly950=)
2g.189050621C>GCA349867043COL5A2c.2987G>C (p.Gly996Ala)
c.1826G>C (p.Gly609Ala)
c.2849G>C (p.Gly950Ala)
2g.189050621C>TCA349867046COL5A2c.2987G>A (p.Gly996Asp)
c.1826G>A (p.Gly609Asp)
c.2849G>A (p.Gly950Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189050622C>ACA349867049COL5A2c.2986G>T (p.Gly996Cys)
c.1825G>T (p.Gly609Cys)
c.2848G>T (p.Gly950Cys)
 gnomAD v4
2g.189050622C=CA1315425036COL5A2c.2986G= (p.Gly996=)
c.1825G= (p.Gly609=)
c.2848G= (p.Gly950=)
2g.189050622C>GCA349867051COL5A2c.2986G>C (p.Gly996Arg)
c.1825G>C (p.Gly609Arg)
c.2848G>C (p.Gly950Arg)
2g.189050622C>TCA349867054COL5A2c.2986G>A (p.Gly996Ser)
c.1825G>A (p.Gly609Ser)
c.2848G>A (p.Gly950Ser)
 dbSNP gnomAD v4
2g.189050625_189050627delCA2662317778COL5A2c.2984_2986del (p.Val995del)
c.1823_1825del (p.Val608del)
c.2846_2848del (p.Val949del)
 gnomAD v4
2g.189050623A>CCA430322121COL5A2c.2985T>G (p.Val995=)
c.1824T>G (p.Val608=)
c.2847T>G (p.Val949=)
2g.189050623A>GCA430322123COL5A2c.2985T>C (p.Val995=)
c.1824T>C (p.Val608=)
c.2847T>C (p.Val949=)
 gnomAD v4
2g.189050623A>TCA430322124COL5A2c.2985T>A (p.Val995=)
c.1824T>A (p.Val608=)
c.2847T>A (p.Val949=)
 gnomAD v4
2g.189050624A>CCA349867055COL5A2c.2984T>G (p.Val995Gly)
c.1823T>G (p.Val608Gly)
c.2846T>G (p.Val949Gly)
2g.189050624A>GCA349867059COL5A2c.2984T>C (p.Val995Ala)
c.1823T>C (p.Val608Ala)
c.2846T>C (p.Val949Ala)
2g.189050624A>TCA349867058COL5A2c.2984T>A (p.Val995Asp)
c.1823T>A (p.Val608Asp)
c.2846T>A (p.Val949Asp)
2g.189050625C>ACA62595061COL5A2c.2983G>T (p.Val995Phe)
c.1822G>T (p.Val608Phe)
c.2845G>T (p.Val949Phe)
 dbSNP gnomAD v4
2g.189050625C=CA1315425037COL5A2c.2983G= (p.Val995=)
c.1822G= (p.Val608=)
c.2845G= (p.Val949=)
2g.189050625C>GCA349867063COL5A2c.2983G>C (p.Val995Leu)
c.1822G>C (p.Val608Leu)
c.2845G>C (p.Val949Leu)
 ClinVar
2g.189050625C>TCA349867064COL5A2c.2983G>A (p.Val995Ile)
c.1822G>A (p.Val608Ile)
c.2845G>A (p.Val949Ile)
 gnomAD v4
2g.189050626A>CCA349867065COL5A2c.2982T>G (p.Ile994Met)
c.1821T>G (p.Ile607Met)
c.2844T>G (p.Ile948Met)
2g.189050626A>GCA430322133COL5A2c.2982T>C (p.Ile994=)
c.1821T>C (p.Ile607=)
c.2844T>C (p.Ile948=)
2g.189050626A>TCA430322135COL5A2c.2982T>A (p.Ile994=)
c.1821T>A (p.Ile607=)
c.2844T>A (p.Ile948=)
 gnomAD v4
2g.189050627A=CA1315425038COL5A2c.2981T= (p.Ile994=)
c.1820T= (p.Ile607=)
c.2843T= (p.Ile948=)
2g.189050627A>CCA349867067COL5A2c.2981T>G (p.Ile994Ser)
c.1820T>G (p.Ile607Ser)
c.2843T>G (p.Ile948Ser)
2g.189050627A>GCA349867071COL5A2c.2981T>C (p.Ile994Thr)
c.1820T>C (p.Ile607Thr)
c.2843T>C (p.Ile948Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189050627A>TCA349867070COL5A2c.2981T>A (p.Ile994Asn)
c.1820T>A (p.Ile607Asn)
c.2843T>A (p.Ile948Asn)
 dbSNP gnomAD v4
2g.189050628T>ACA349867074COL5A2c.2980A>T (p.Ile994Phe)
c.1819A>T (p.Ile607Phe)
c.2842A>T (p.Ile948Phe)
 ClinVar gnomAD v4
2g.189050628T>CCA349867076COL5A2c.2980A>G (p.Ile994Val)
c.1819A>G (p.Ile607Val)
c.2842A>G (p.Ile948Val)
 gnomAD v4
2g.189050628T>GCA62595066COL5A2c.2980A>C (p.Ile994Leu)
c.1819A>C (p.Ile607Leu)
c.2842A>C (p.Ile948Leu)
 dbSNP
2g.189050628T=CA1315425039COL5A2c.2980A= (p.Ile994=)
c.1819A= (p.Ile607=)
c.2842A= (p.Ile948=)
2g.189050629T>ACA430322140COL5A2c.2979A>T (p.Gly993=)
c.1818A>T (p.Gly606=)
c.2841A>T (p.Gly947=)
2g.189050629T>CCA430322144COL5A2c.2979A>G (p.Gly993=)
c.1818A>G (p.Gly606=)
c.2841A>G (p.Gly947=)
 gnomAD v4
2g.189050629T>GCA430322142COL5A2c.2979A>C (p.Gly993=)
c.1818A>C (p.Gly606=)
c.2841A>C (p.Gly947=)
2g.189050630C>ACA349867079COL5A2c.2978G>T (p.Gly993Val)
c.1817G>T (p.Gly606Val)
c.2840G>T (p.Gly947Val)
 gnomAD v4
2g.189050630C>GCA349867080COL5A2c.2978G>C (p.Gly993Ala)
c.1817G>C (p.Gly606Ala)
c.2840G>C (p.Gly947Ala)
2g.189050630C>TCA349867082COL5A2c.2978G>A (p.Gly993Glu)
c.1817G>A (p.Gly606Glu)
c.2840G>A (p.Gly947Glu)
 gnomAD v4
2g.189050631C>ACA349867084COL5A2c.2977G>T (p.Gly993Ter)
c.1816G>T (p.Gly606Ter)
c.2839G>T (p.Gly947Ter)
 gnomAD v4
2g.189050631C>GCA349867085COL5A2c.2977G>C (p.Gly993Arg)
c.1816G>C (p.Gly606Arg)
c.2839G>C (p.Gly947Arg)
2g.189050631C>TCA349867086COL5A2c.2977G>A (p.Gly993Arg)
c.1816G>A (p.Gly606Arg)
c.2839G>A (p.Gly947Arg)
2g.189050632T>ACA349867088COL5A2c.2976A>T (p.Arg992Ser)
c.1815A>T (p.Arg605Ser)
c.2838A>T (p.Arg946Ser)
2g.189050632T>CCA430322152COL5A2c.2976A>G (p.Arg992=)
c.1815A>G (p.Arg605=)
c.2838A>G (p.Arg946=)
 dbSNP gnomAD v3 gnomAD v4
2g.189050632T>GCA349867090COL5A2c.2976A>C (p.Arg992Ser)
c.1815A>C (p.Arg605Ser)
c.2838A>C (p.Arg946Ser)
2g.189050632T=CA1315425040COL5A2c.2976A= (p.Arg992=)
c.1815A= (p.Arg605=)
c.2838A= (p.Arg946=)
2g.189050633C>ACA349867093COL5A2c.2975G>T (p.Arg992Ile)
c.1814G>T (p.Arg605Ile)
c.2837G>T (p.Arg946Ile)
 gnomAD v4
2g.189050633C>GCA349867094COL5A2c.2975G>C (p.Arg992Thr)
c.1814G>C (p.Arg605Thr)
c.2837G>C (p.Arg946Thr)
2g.189050633C>TCA349867091COL5A2c.2975G>A (p.Arg992Lys)
c.1814G>A (p.Arg605Lys)
c.2837G>A (p.Arg946Lys)
 gnomAD v4
2g.189050634T>ACA349867098COL5A2c.2974A>T (p.Arg992Ter)
c.1813A>T (p.Arg605Ter)
c.2836A>T (p.Arg946Ter)
 gnomAD v4
2g.189050634T>CCA349867096COL5A2c.2974A>G (p.Arg992Gly)
c.1813A>G (p.Arg605Gly)
c.2836A>G (p.Arg946Gly)
 gnomAD v4
2g.189050634T>GCA430322158COL5A2c.2974A>C (p.Arg992=)
c.1813A>C (p.Arg605=)
c.2836A>C (p.Arg946=)
2g.189050635C>ACA349867099COL5A2c.2973G>T (p.Gln991His)
c.1812G>T (p.Gln604His)
c.2835G>T (p.Gln945His)
 gnomAD v4
2g.189050635C>GCA349867100COL5A2c.2973G>C (p.Gln991His)
c.1812G>C (p.Gln604His)
c.2835G>C (p.Gln945His)
2g.189050635C>TCA430322163COL5A2c.2973G>A (p.Gln991=)
c.1812G>A (p.Gln604=)
c.2835G>A (p.Gln945=)
 gnomAD v4
2g.189050636T>ACA349867103COL5A2c.2972A>T (p.Gln991Leu)
c.1811A>T (p.Gln604Leu)
c.2834A>T (p.Gln945Leu)
2g.189050636T>CCA349867104COL5A2c.2972A>G (p.Gln991Arg)
c.1811A>G (p.Gln604Arg)
c.2834A>G (p.Gln945Arg)
 gnomAD v4
2g.189050636T>GCA349867105COL5A2c.2972A>C (p.Gln991Pro)
c.1811A>C (p.Gln604Pro)
c.2834A>C (p.Gln945Pro)
2g.189050637G>ACA349867107COL5A2c.2971C>T (p.Gln991Ter)
c.1810C>T (p.Gln604Ter)
c.2833C>T (p.Gln945Ter)
 gnomAD v4
2g.189050637G>CCA349867109COL5A2c.2971C>G (p.Gln991Glu)
c.1810C>G (p.Gln604Glu)
c.2833C>G (p.Gln945Glu)
 gnomAD v4
2g.189050637G>TCA349867111COL5A2c.2971C>A (p.Gln991Lys)
c.1810C>A (p.Gln604Lys)
c.2833C>A (p.Gln945Lys)
 gnomAD v4
2g.189050638C>ACA430322166COL5A2c.2970G>T (p.Gly990=)
c.1809G>T (p.Gly603=)
c.2832G>T (p.Gly944=)
 ClinVar dbSNP gnomAD v4
2g.189050638C=CA1315425041COL5A2c.2970G= (p.Gly990=)
c.1809G= (p.Gly603=)
c.2832G= (p.Gly944=)
2g.189050638C>GCA62595075COL5A2c.2970G>C (p.Gly990=)
c.1809G>C (p.Gly603=)
c.2832G>C (p.Gly944=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050638C>TCA430322168COL5A2c.2970G>A (p.Gly990=)
c.1809G>A (p.Gly603=)
c.2832G>A (p.Gly944=)
 ClinVar dbSNP gnomAD v4
2g.189050639C>ACA349867112COL5A2c.2969G>T (p.Gly990Val)
c.1808G>T (p.Gly603Val)
c.2831G>T (p.Gly944Val)
 gnomAD v4
2g.189050639C=CA1315425042COL5A2c.2969G= (p.Gly990=)
c.1808G= (p.Gly603=)
c.2831G= (p.Gly944=)
2g.189050639C>GCA349867114COL5A2c.2969G>C (p.Gly990Ala)
c.1808G>C (p.Gly603Ala)
c.2831G>C (p.Gly944Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.189050639C>TCA349867115COL5A2c.2969G>A (p.Gly990Glu)
c.1808G>A (p.Gly603Glu)
c.2831G>A (p.Gly944Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.189050640C>ACA349867120COL5A2c.2968G>T (p.Gly990Trp)
c.1807G>T (p.Gly603Trp)
c.2830G>T (p.Gly944Trp)
 gnomAD v4
2g.189050640C=CA1315425043COL5A2c.2968G= (p.Gly990=)
c.1807G= (p.Gly603=)
c.2830G= (p.Gly944=)
2g.189050640C>GCA349867118COL5A2c.2968G>C (p.Gly990Arg)
c.1807G>C (p.Gly603Arg)
c.2830G>C (p.Gly944Arg)
2g.189050640C>TCA16617397COL5A2c.2968G>A (p.Gly990Arg)
c.1807G>A (p.Gly603Arg)
c.2830G>A (p.Gly944Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189050641G>ACA2022142COL5A2c.2967C>T (p.Thr989=)
c.1806C>T (p.Thr602=)
c.2829C>T (p.Thr943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050641G>CCA430322177COL5A2c.2967C>G (p.Thr989=)
c.1806C>G (p.Thr602=)
c.2829C>G (p.Thr943=)
2g.189050641G=CA1315425044COL5A2c.2967C= (p.Thr989=)
c.1806C= (p.Thr602=)
c.2829C= (p.Thr943=)
2g.189050641G>TCA430322178COL5A2c.2967C>A (p.Thr989=)
c.1806C>A (p.Thr602=)
c.2829C>A (p.Thr943=)
 gnomAD v4
2g.189050642G>ACA349867122COL5A2c.2966C>T (p.Thr989Ile)
c.1805C>T (p.Thr602Ile)
c.2828C>T (p.Thr943Ile)
 gnomAD v4
2g.189050642G>CCA349867124COL5A2c.2966C>G (p.Thr989Ser)
c.1805C>G (p.Thr602Ser)
c.2828C>G (p.Thr943Ser)
2g.189050642G>TCA349867126COL5A2c.2966C>A (p.Thr989Asn)
c.1805C>A (p.Thr602Asn)
c.2828C>A (p.Thr943Asn)
 gnomAD v4
2g.189050643T>ACA349867128COL5A2c.2965A>T (p.Thr989Ser)
c.1804A>T (p.Thr602Ser)
c.2827A>T (p.Thr943Ser)
 gnomAD v4
2g.189050643T>CCA349867130COL5A2c.2965A>G (p.Thr989Ala)
c.1804A>G (p.Thr602Ala)
c.2827A>G (p.Thr943Ala)
2g.189050643T>GCA349867132COL5A2c.2965A>C (p.Thr989Pro)
c.1804A>C (p.Thr602Pro)
c.2827A>C (p.Thr943Pro)
2g.189050644C>ACA430322185COL5A2c.2964G>T (p.Thr988=)
c.1803G>T (p.Thr601=)
c.2826G>T (p.Thr942=)
 gnomAD v4
2g.189050644C=CA1315425045COL5A2c.2964G= (p.Thr988=)
c.1803G= (p.Thr601=)
c.2826G= (p.Thr942=)
2g.189050644C>GCA430322186COL5A2c.2964G>C (p.Thr988=)
c.1803G>C (p.Thr601=)
c.2826G>C (p.Thr942=)
2g.189050644C>TCA16610653COL5A2c.2964G>A (p.Thr988=)
c.1803G>A (p.Thr601=)
c.2826G>A (p.Thr942=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189050645G>ACA324402COL5A2c.2963C>T (p.Thr988Met)
c.1802C>T (p.Thr601Met)
c.2825C>T (p.Thr942Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189050645G>CCA349867134COL5A2c.2963C>G (p.Thr988Arg)
c.1802C>G (p.Thr601Arg)
c.2825C>G (p.Thr942Arg)
2g.189050645G=CA1315425046COL5A2c.2963C= (p.Thr988=)
c.1802C= (p.Thr601=)
c.2825C= (p.Thr942=)
2g.189050645G>TCA349867136COL5A2c.2963C>A (p.Thr988Lys)
c.1802C>A (p.Thr601Lys)
c.2825C>A (p.Thr942Lys)
 dbSNP COSMIC
2g.189050646T>ACA349867138COL5A2c.2962A>T (p.Thr988Ser)
c.1801A>T (p.Thr601Ser)
c.2824A>T (p.Thr942Ser)
2g.189050646T>CCA349867140COL5A2c.2962A>G (p.Thr988Ala)
c.1801A>G (p.Thr601Ala)
c.2824A>G (p.Thr942Ala)
 gnomAD v4
2g.189050646T>GCA349867141COL5A2c.2962A>C (p.Thr988Pro)
c.1801A>C (p.Thr601Pro)
c.2824A>C (p.Thr942Pro)
2g.189050647T>ACA430322195COL5A2c.2961A>T (p.Gly987=)
c.1800A>T (p.Gly600=)
c.2823A>T (p.Gly941=)
2g.189050647T>CCA430322197COL5A2c.2961A>G (p.Gly987=)
c.1800A>G (p.Gly600=)
c.2823A>G (p.Gly941=)
 gnomAD v4
2g.189050647T>GCA430322199COL5A2c.2961A>C (p.Gly987=)
c.1800A>C (p.Gly600=)
c.2823A>C (p.Gly941=)
2g.189050648C>ACA349867146COL5A2c.2960G>T (p.Gly987Val)
c.1799G>T (p.Gly600Val)
c.2822G>T (p.Gly941Val)
 gnomAD v4
2g.189050648C=CA1315425047COL5A2c.2960G= (p.Gly987=)
c.1799G= (p.Gly600=)
c.2822G= (p.Gly941=)
2g.189050648C>GCA349867147COL5A2c.2960G>C (p.Gly987Ala)
c.1799G>C (p.Gly600Ala)
c.2822G>C (p.Gly941Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.189050648C>TCA349867144COL5A2c.2960G>A (p.Gly987Glu)
c.1799G>A (p.Gly600Glu)
c.2822G>A (p.Gly941Glu)
 gnomAD v4
2g.189050649C>ACA349867150COL5A2c.2959G>T (p.Gly987Ter)
c.1798G>T (p.Gly600Ter)
c.2821G>T (p.Gly941Ter)
 gnomAD v4
2g.189050649C>GCA349867151COL5A2c.2959G>C (p.Gly987Arg)
c.1798G>C (p.Gly600Arg)
c.2821G>C (p.Gly941Arg)
 gnomAD v4
2g.189050649C>TCA349867152COL5A2c.2959G>A (p.Gly987Arg)
c.1798G>A (p.Gly600Arg)
c.2821G>A (p.Gly941Arg)
 gnomAD v4
2g.189050650A>CCA430322209COL5A2c.2958T>G (p.Ala986=)
c.1797T>G (p.Ala599=)
c.2820T>G (p.Ala940=)
2g.189050650A>GCA430322207COL5A2c.2958T>C (p.Ala986=)
c.1797T>C (p.Ala599=)
c.2820T>C (p.Ala940=)
 gnomAD v4
2g.189050650A>TCA430322206COL5A2c.2958T>A (p.Ala986=)
c.1797T>A (p.Ala599=)
c.2820T>A (p.Ala940=)
 gnomAD v4
2g.189050651G>ACA349867154COL5A2c.2957C>T (p.Ala986Val)
c.1796C>T (p.Ala599Val)
c.2819C>T (p.Ala940Val)
 gnomAD v4
2g.189050651G>CCA349867156COL5A2c.2957C>G (p.Ala986Gly)
c.1796C>G (p.Ala599Gly)
c.2819C>G (p.Ala940Gly)
2g.189050651G>TCA349867157COL5A2c.2957C>A (p.Ala986Asp)
c.1796C>A (p.Ala599Asp)
c.2819C>A (p.Ala940Asp)
 gnomAD v4
2g.189050652C>ACA349867161COL5A2c.2956G>T (p.Ala986Ser)
c.1795G>T (p.Ala599Ser)
c.2818G>T (p.Ala940Ser)
 gnomAD v4
2g.189050652C>GCA349867158COL5A2c.2956G>C (p.Ala986Pro)
c.1795G>C (p.Ala599Pro)
c.2818G>C (p.Ala940Pro)
2g.189050652C>TCA349867159COL5A2c.2956G>A (p.Ala986Thr)
c.1795G>A (p.Ala599Thr)
c.2818G>A (p.Ala940Thr)
 gnomAD v4

Number of alleles fetched