Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237334691T>ACA351188240COL6A3c.1611-1143A>T
c.8546A>T (p.His2849Leu)
c.1291A>T
c.32A>T (p.His11Leu)
c.9164A>T (p.His3055Leu)
c.7340A>T (p.His2447Leu)
c.7343A>T (p.His2448Leu)
n.5606A>T
n.96A>T
c.8564A>T (p.His2855Leu)
c.7943A>T (p.His2648Leu)
c.8663A>T (p.His2888Leu)
c.9161A>T (p.His3054Leu)
c.6758A>T (p.His2253Leu)
2g.237334691T>CCA351188244COL6A3c.1611-1143A>G
c.8546A>G (p.His2849Arg)
c.1291A>G
c.32A>G (p.His11Arg)
c.9164A>G (p.His3055Arg)
c.7340A>G (p.His2447Arg)
c.7343A>G (p.His2448Arg)
n.5606A>G
n.96A>G
c.8564A>G (p.His2855Arg)
c.7943A>G (p.His2648Arg)
c.8663A>G (p.His2888Arg)
c.9161A>G (p.His3054Arg)
c.6758A>G (p.His2253Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.237334691T>GCA351188241COL6A3c.1611-1143A>C
c.8546A>C (p.His2849Pro)
c.1291A>C
c.32A>C (p.His11Pro)
c.9164A>C (p.His3055Pro)
c.7340A>C (p.His2447Pro)
c.7343A>C (p.His2448Pro)
n.5606A>C
n.96A>C
c.8564A>C (p.His2855Pro)
c.7943A>C (p.His2648Pro)
c.8663A>C (p.His2888Pro)
c.9161A>C (p.His3054Pro)
c.6758A>C (p.His2253Pro)
2g.237334691T=CA1337606410COL6A3c.1611-1143A=
c.8546A= (p.His2849=)
c.1291A=
c.32A= (p.His11=)
c.9164A= (p.His3055=)
c.7340A= (p.His2447=)
c.7343A= (p.His2448=)
n.5606A=
n.96A=
c.8564A= (p.His2855=)
c.7943A= (p.His2648=)
c.8663A= (p.His2888=)
c.9161A= (p.His3054=)
c.6758A= (p.His2253=)
2g.237334692G>ACA351188247COL6A3c.1611-1144C>T
c.8545C>T (p.His2849Tyr)
c.1290C>T
c.31C>T (p.His11Tyr)
c.9163C>T (p.His3055Tyr)
c.7339C>T (p.His2447Tyr)
c.7342C>T (p.His2448Tyr)
n.5605C>T
n.95C>T
c.8563C>T (p.His2855Tyr)
c.7942C>T (p.His2648Tyr)
c.8662C>T (p.His2888Tyr)
c.9160C>T (p.His3054Tyr)
c.6757C>T (p.His2253Tyr)
2g.237334692G>CCA351188248COL6A3c.1611-1144C>G
c.8545C>G (p.His2849Asp)
c.1290C>G
c.31C>G (p.His11Asp)
c.9163C>G (p.His3055Asp)
c.7339C>G (p.His2447Asp)
c.7342C>G (p.His2448Asp)
n.5605C>G
n.95C>G
c.8563C>G (p.His2855Asp)
c.7942C>G (p.His2648Asp)
c.8662C>G (p.His2888Asp)
c.9160C>G (p.His3054Asp)
c.6757C>G (p.His2253Asp)
 gnomAD v4
2g.237334692G>TCA351188250COL6A3c.1611-1144C>A
c.8545C>A (p.His2849Asn)
c.1290C>A
c.31C>A (p.His11Asn)
c.9163C>A (p.His3055Asn)
c.7339C>A (p.His2447Asn)
c.7342C>A (p.His2448Asn)
n.5605C>A
n.95C>A
c.8563C>A (p.His2855Asn)
c.7942C>A (p.His2648Asn)
c.8662C>A (p.His2888Asn)
c.9160C>A (p.His3054Asn)
c.6757C>A (p.His2253Asn)
2g.237334692_237334695dupCA2573135626COL6A3c.1611-1147_1611-1144dup
c.8542_8545dup (p.His2849LeufsTer?)
c.1287_1290dup
c.28_31dup (p.His11LeufsTer?)
c.9160_9163dup (p.His3055LeufsTer?)
c.7336_7339dup (p.His2447LeufsTer?)
c.7339_7342dup (p.His2448LeufsTer?)
n.5602_5605dup
n.92_95dup
c.8560_8563dup (p.His2855LeufsTer?)
c.7939_7942dup (p.His2648LeufsTer?)
c.8659_8662dup (p.His2888LeufsTer?)
c.9157_9160dup (p.His3054LeufsTer?)
c.6754_6757dup (p.His2253LeufsTer?)
 ClinVar dbSNP
2g.237334693G>ACA431698627COL6A3c.1611-1145C>T
c.8544C>T (p.Tyr2848=)
c.1289C>T
c.30C>T (p.Tyr10=)
c.9162C>T (p.Tyr3054=)
c.7338C>T (p.Tyr2446=)
c.7341C>T (p.Tyr2447=)
n.5604C>T
n.94C>T
c.8562C>T (p.Tyr2854=)
c.7941C>T (p.Tyr2647=)
c.8661C>T (p.Tyr2887=)
c.9159C>T (p.Tyr3053=)
c.6756C>T (p.Tyr2252=)
2g.237334693G>CCA351188253COL6A3c.1611-1145C>G
c.8544C>G (p.Tyr2848Ter)
c.1289C>G
c.30C>G (p.Tyr10Ter)
c.9162C>G (p.Tyr3054Ter)
c.7338C>G (p.Tyr2446Ter)
c.7341C>G (p.Tyr2447Ter)
n.5604C>G
n.94C>G
c.8562C>G (p.Tyr2854Ter)
c.7941C>G (p.Tyr2647Ter)
c.8661C>G (p.Tyr2887Ter)
c.9159C>G (p.Tyr3053Ter)
c.6756C>G (p.Tyr2252Ter)
2g.237334693G>TCA351188256COL6A3c.1611-1145C>A
c.8544C>A (p.Tyr2848Ter)
c.1289C>A
c.30C>A (p.Tyr10Ter)
c.9162C>A (p.Tyr3054Ter)
c.7338C>A (p.Tyr2446Ter)
c.7341C>A (p.Tyr2447Ter)
n.5604C>A
n.94C>A
c.8562C>A (p.Tyr2854Ter)
c.7941C>A (p.Tyr2647Ter)
c.8661C>A (p.Tyr2887Ter)
c.9159C>A (p.Tyr3053Ter)
c.6756C>A (p.Tyr2252Ter)
2g.237334694T>ACA351188259COL6A3c.1611-1146A>T
c.8543A>T (p.Tyr2848Phe)
c.1288A>T
c.29A>T (p.Tyr10Phe)
c.9161A>T (p.Tyr3054Phe)
c.7337A>T (p.Tyr2446Phe)
c.7340A>T (p.Tyr2447Phe)
n.5603A>T
n.93A>T
c.8561A>T (p.Tyr2854Phe)
c.7940A>T (p.Tyr2647Phe)
c.8660A>T (p.Tyr2887Phe)
c.9158A>T (p.Tyr3053Phe)
c.6755A>T (p.Tyr2252Phe)
2g.237334694T>CCA351188262COL6A3c.1611-1146A>G
c.8543A>G (p.Tyr2848Cys)
c.1288A>G
c.29A>G (p.Tyr10Cys)
c.9161A>G (p.Tyr3054Cys)
c.7337A>G (p.Tyr2446Cys)
c.7340A>G (p.Tyr2447Cys)
n.5603A>G
n.93A>G
c.8561A>G (p.Tyr2854Cys)
c.7940A>G (p.Tyr2647Cys)
c.8660A>G (p.Tyr2887Cys)
c.9158A>G (p.Tyr3053Cys)
c.6755A>G (p.Tyr2252Cys)
2g.237334694T>GCA351188264COL6A3c.1611-1146A>C
c.8543A>C (p.Tyr2848Ser)
c.1288A>C
c.29A>C (p.Tyr10Ser)
c.9161A>C (p.Tyr3054Ser)
c.7337A>C (p.Tyr2446Ser)
c.7340A>C (p.Tyr2447Ser)
n.5603A>C
n.93A>C
c.8561A>C (p.Tyr2854Ser)
c.7940A>C (p.Tyr2647Ser)
c.8660A>C (p.Tyr2887Ser)
c.9158A>C (p.Tyr3053Ser)
c.6755A>C (p.Tyr2252Ser)
2g.237334695A=CA1337606411COL6A3c.1611-1147T=
c.8542T= (p.Tyr2848=)
c.1287T=
c.28T= (p.Tyr10=)
c.9160T= (p.Tyr3054=)
c.7336T= (p.Tyr2446=)
c.7339T= (p.Tyr2447=)
n.5602T=
n.92T=
c.8560T= (p.Tyr2854=)
c.7939T= (p.Tyr2647=)
c.8659T= (p.Tyr2887=)
c.9157T= (p.Tyr3053=)
c.6754T= (p.Tyr2252=)
2g.237334695A>CCA351188267COL6A3c.1611-1147T>G
c.8542T>G (p.Tyr2848Asp)
c.1287T>G
c.28T>G (p.Tyr10Asp)
c.9160T>G (p.Tyr3054Asp)
c.7336T>G (p.Tyr2446Asp)
c.7339T>G (p.Tyr2447Asp)
n.5602T>G
n.92T>G
c.8560T>G (p.Tyr2854Asp)
c.7939T>G (p.Tyr2647Asp)
c.8659T>G (p.Tyr2887Asp)
c.9157T>G (p.Tyr3053Asp)
c.6754T>G (p.Tyr2252Asp)
2g.237334695A>GCA351188269COL6A3c.1611-1147T>C
c.8542T>C (p.Tyr2848His)
c.1287T>C
c.28T>C (p.Tyr10His)
c.9160T>C (p.Tyr3054His)
c.7336T>C (p.Tyr2446His)
c.7339T>C (p.Tyr2447His)
n.5602T>C
n.92T>C
c.8560T>C (p.Tyr2854His)
c.7939T>C (p.Tyr2647His)
c.8659T>C (p.Tyr2887His)
c.9157T>C (p.Tyr3053His)
c.6754T>C (p.Tyr2252His)
 dbSNP gnomAD v4
2g.237334695A>TCA351188272COL6A3c.1611-1147T>A
c.8542T>A (p.Tyr2848Asn)
c.1287T>A
c.28T>A (p.Tyr10Asn)
c.9160T>A (p.Tyr3054Asn)
c.7336T>A (p.Tyr2446Asn)
c.7339T>A (p.Tyr2447Asn)
n.5602T>A
n.92T>A
c.8560T>A (p.Tyr2854Asn)
c.7939T>A (p.Tyr2647Asn)
c.8659T>A (p.Tyr2887Asn)
c.9157T>A (p.Tyr3053Asn)
c.6754T>A (p.Tyr2252Asn)
2g.237334696T>ACA2187344COL6A3c.1611-1148A>T
c.8541A>T (p.Thr2847=)
c.1286A>T
c.27A>T (p.Thr9=)
c.9159A>T (p.Thr3053=)
c.7335A>T (p.Thr2445=)
c.7338A>T (p.Thr2446=)
n.5601A>T
n.91A>T
c.8559A>T (p.Thr2853=)
c.7938A>T (p.Thr2646=)
c.8658A>T (p.Thr2886=)
c.9156A>T (p.Thr3052=)
c.6753A>T (p.Thr2251=)
 dbSNP ExAC
2g.237334696T>CCA431698647COL6A3c.1611-1148A>G
c.8541A>G (p.Thr2847=)
c.1286A>G
c.27A>G (p.Thr9=)
c.9159A>G (p.Thr3053=)
c.7335A>G (p.Thr2445=)
c.7338A>G (p.Thr2446=)
n.5601A>G
n.91A>G
c.8559A>G (p.Thr2853=)
c.7938A>G (p.Thr2646=)
c.8658A>G (p.Thr2886=)
c.9156A>G (p.Thr3052=)
c.6753A>G (p.Thr2251=)
 dbSNP
2g.237334696T>GCA431698645COL6A3c.1611-1148A>C
c.8541A>C (p.Thr2847=)
c.1286A>C
c.27A>C (p.Thr9=)
c.9159A>C (p.Thr3053=)
c.7335A>C (p.Thr2445=)
c.7338A>C (p.Thr2446=)
n.5601A>C
n.91A>C
c.8559A>C (p.Thr2853=)
c.7938A>C (p.Thr2646=)
c.8658A>C (p.Thr2886=)
c.9156A>C (p.Thr3052=)
c.6753A>C (p.Thr2251=)
2g.237334696T=CA1337606412COL6A3c.1611-1148A=
c.8541A= (p.Thr2847=)
c.1286A=
c.27A= (p.Thr9=)
c.9159A= (p.Thr3053=)
c.7335A= (p.Thr2445=)
c.7338A= (p.Thr2446=)
n.5601A=
n.91A=
c.8559A= (p.Thr2853=)
c.7938A= (p.Thr2646=)
c.8658A= (p.Thr2886=)
c.9156A= (p.Thr3052=)
c.6753A= (p.Thr2251=)
2g.237334697G>ACA351188278COL6A3c.1611-1149C>T
c.8540C>T (p.Thr2847Ile)
c.1285C>T
c.26C>T (p.Thr9Ile)
c.9158C>T (p.Thr3053Ile)
c.7334C>T (p.Thr2445Ile)
c.7337C>T (p.Thr2446Ile)
n.5600C>T
n.90C>T
c.8558C>T (p.Thr2853Ile)
c.7937C>T (p.Thr2646Ile)
c.8657C>T (p.Thr2886Ile)
c.9155C>T (p.Thr3052Ile)
c.6752C>T (p.Thr2251Ile)
2g.237334697G>CCA351188275COL6A3c.1611-1149C>G
c.8540C>G (p.Thr2847Arg)
c.1285C>G
c.26C>G (p.Thr9Arg)
c.9158C>G (p.Thr3053Arg)
c.7334C>G (p.Thr2445Arg)
c.7337C>G (p.Thr2446Arg)
n.5600C>G
n.90C>G
c.8558C>G (p.Thr2853Arg)
c.7937C>G (p.Thr2646Arg)
c.8657C>G (p.Thr2886Arg)
c.9155C>G (p.Thr3052Arg)
c.6752C>G (p.Thr2251Arg)
2g.237334697G=CA1337606413COL6A3c.1611-1149C=
c.8540C= (p.Thr2847=)
c.1285C=
c.26C= (p.Thr9=)
c.9158C= (p.Thr3053=)
c.7334C= (p.Thr2445=)
c.7337C= (p.Thr2446=)
n.5600C=
n.90C=
c.8558C= (p.Thr2853=)
c.7937C= (p.Thr2646=)
c.8657C= (p.Thr2886=)
c.9155C= (p.Thr3052=)
c.6752C= (p.Thr2251=)
2g.237334697G>TCA351188276COL6A3c.1611-1149C>A
c.8540C>A (p.Thr2847Lys)
c.1285C>A
c.26C>A (p.Thr9Lys)
c.9158C>A (p.Thr3053Lys)
c.7334C>A (p.Thr2445Lys)
c.7337C>A (p.Thr2446Lys)
n.5600C>A
n.90C>A
c.8558C>A (p.Thr2853Lys)
c.7937C>A (p.Thr2646Lys)
c.8657C>A (p.Thr2886Lys)
c.9155C>A (p.Thr3052Lys)
c.6752C>A (p.Thr2251Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.237334698T>ACA351188280COL6A3c.1611-1150A>T
c.8539A>T (p.Thr2847Ser)
c.1284A>T
c.25A>T (p.Thr9Ser)
c.9157A>T (p.Thr3053Ser)
c.7333A>T (p.Thr2445Ser)
c.7336A>T (p.Thr2446Ser)
n.5599A>T
n.89A>T
c.8557A>T (p.Thr2853Ser)
c.7936A>T (p.Thr2646Ser)
c.8656A>T (p.Thr2886Ser)
c.9154A>T (p.Thr3052Ser)
c.6751A>T (p.Thr2251Ser)
2g.237334698T>CCA351188282COL6A3c.1611-1150A>G
c.8539A>G (p.Thr2847Ala)
c.1284A>G
c.25A>G (p.Thr9Ala)
c.9157A>G (p.Thr3053Ala)
c.7333A>G (p.Thr2445Ala)
c.7336A>G (p.Thr2446Ala)
n.5599A>G
n.89A>G
c.8557A>G (p.Thr2853Ala)
c.7936A>G (p.Thr2646Ala)
c.8656A>G (p.Thr2886Ala)
c.9154A>G (p.Thr3052Ala)
c.6751A>G (p.Thr2251Ala)
 dbSNP
2g.237334698T>GCA351188284COL6A3c.1611-1150A>C
c.8539A>C (p.Thr2847Pro)
c.1284A>C
c.25A>C (p.Thr9Pro)
c.9157A>C (p.Thr3053Pro)
c.7333A>C (p.Thr2445Pro)
c.7336A>C (p.Thr2446Pro)
n.5599A>C
n.89A>C
c.8557A>C (p.Thr2853Pro)
c.7936A>C (p.Thr2646Pro)
c.8656A>C (p.Thr2886Pro)
c.9154A>C (p.Thr3052Pro)
c.6751A>C (p.Thr2251Pro)
2g.237334698T=CA1337606414COL6A3c.1611-1150A=
c.8539A= (p.Thr2847=)
c.1284A=
c.25A= (p.Thr9=)
c.9157A= (p.Thr3053=)
c.7333A= (p.Thr2445=)
c.7336A= (p.Thr2446=)
n.5599A=
n.89A=
c.8557A= (p.Thr2853=)
c.7936A= (p.Thr2646=)
c.8656A= (p.Thr2886=)
c.9154A= (p.Thr3052=)
c.6751A= (p.Thr2251=)
2g.237334699C>ACA351188285COL6A3c.1611-1151G>T
c.8538G>T (p.Gln2846His)
c.1283G>T
c.24G>T (p.Gln8His)
c.9156G>T (p.Gln3052His)
c.7332G>T (p.Gln2444His)
c.7335G>T (p.Gln2445His)
n.5598G>T
n.88G>T
c.8556G>T (p.Gln2852His)
c.7935G>T (p.Gln2645His)
c.8655G>T (p.Gln2885His)
c.9153G>T (p.Gln3051His)
c.6750G>T (p.Gln2250His)
2g.237334699C=CA1337606415COL6A3c.1611-1151G=
c.8538G= (p.Gln2846=)
c.1283G=
c.24G= (p.Gln8=)
c.9156G= (p.Gln3052=)
c.7332G= (p.Gln2444=)
c.7335G= (p.Gln2445=)
n.5598G=
n.88G=
c.8556G= (p.Gln2852=)
c.7935G= (p.Gln2645=)
c.8655G= (p.Gln2885=)
c.9153G= (p.Gln3051=)
c.6750G= (p.Gln2250=)
2g.237334699C>GCA2187345COL6A3c.1611-1151G>C
c.8538G>C (p.Gln2846His)
c.1283G>C
c.24G>C (p.Gln8His)
c.9156G>C (p.Gln3052His)
c.7332G>C (p.Gln2444His)
c.7335G>C (p.Gln2445His)
n.5598G>C
n.88G>C
c.8556G>C (p.Gln2852His)
c.7935G>C (p.Gln2645His)
c.8655G>C (p.Gln2885His)
c.9153G>C (p.Gln3051His)
c.6750G>C (p.Gln2250His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334699C>TCA431698664COL6A3c.1611-1151G>A
c.8538G>A (p.Gln2846=)
c.1283G>A
c.24G>A (p.Gln8=)
c.9156G>A (p.Gln3052=)
c.7332G>A (p.Gln2444=)
c.7335G>A (p.Gln2445=)
n.5598G>A
n.88G>A
c.8556G>A (p.Gln2852=)
c.7935G>A (p.Gln2645=)
c.8655G>A (p.Gln2885=)
c.9153G>A (p.Gln3051=)
c.6750G>A (p.Gln2250=)
2g.237334700T>ACA351188293COL6A3c.1611-1152A>T
c.8537A>T (p.Gln2846Leu)
c.1282A>T
c.23A>T (p.Gln8Leu)
c.9155A>T (p.Gln3052Leu)
c.7331A>T (p.Gln2444Leu)
c.7334A>T (p.Gln2445Leu)
n.5597A>T
n.87A>T
c.8555A>T (p.Gln2852Leu)
c.7934A>T (p.Gln2645Leu)
c.8654A>T (p.Gln2885Leu)
c.9152A>T (p.Gln3051Leu)
c.6749A>T (p.Gln2250Leu)
2g.237334700T>CCA351188290COL6A3c.1611-1152A>G
c.8537A>G (p.Gln2846Arg)
c.1282A>G
c.23A>G (p.Gln8Arg)
c.9155A>G (p.Gln3052Arg)
c.7331A>G (p.Gln2444Arg)
c.7334A>G (p.Gln2445Arg)
n.5597A>G
n.87A>G
c.8555A>G (p.Gln2852Arg)
c.7934A>G (p.Gln2645Arg)
c.8654A>G (p.Gln2885Arg)
c.9152A>G (p.Gln3051Arg)
c.6749A>G (p.Gln2250Arg)
2g.237334700T>GCA351188289COL6A3c.1611-1152A>C
c.8537A>C (p.Gln2846Pro)
c.1282A>C
c.23A>C (p.Gln8Pro)
c.9155A>C (p.Gln3052Pro)
c.7331A>C (p.Gln2444Pro)
c.7334A>C (p.Gln2445Pro)
n.5597A>C
n.87A>C
c.8555A>C (p.Gln2852Pro)
c.7934A>C (p.Gln2645Pro)
c.8654A>C (p.Gln2885Pro)
c.9152A>C (p.Gln3051Pro)
c.6749A>C (p.Gln2250Pro)
2g.237334701G>ACA351188295COL6A3c.1611-1153C>T
c.8536C>T (p.Gln2846Ter)
c.1281C>T
c.22C>T (p.Gln8Ter)
c.9154C>T (p.Gln3052Ter)
c.7330C>T (p.Gln2444Ter)
c.7333C>T (p.Gln2445Ter)
n.5596C>T
n.86C>T
c.8554C>T (p.Gln2852Ter)
c.7933C>T (p.Gln2645Ter)
c.8653C>T (p.Gln2885Ter)
c.9151C>T (p.Gln3051Ter)
c.6748C>T (p.Gln2250Ter)
2g.237334701G>CCA351188298COL6A3c.1611-1153C>G
c.8536C>G (p.Gln2846Glu)
c.1281C>G
c.22C>G (p.Gln8Glu)
c.9154C>G (p.Gln3052Glu)
c.7330C>G (p.Gln2444Glu)
c.7333C>G (p.Gln2445Glu)
n.5596C>G
n.86C>G
c.8554C>G (p.Gln2852Glu)
c.7933C>G (p.Gln2645Glu)
c.8653C>G (p.Gln2885Glu)
c.9151C>G (p.Gln3051Glu)
c.6748C>G (p.Gln2250Glu)
2g.237334701G>TCA351188301COL6A3c.1611-1153C>A
c.8536C>A (p.Gln2846Lys)
c.1281C>A
c.22C>A (p.Gln8Lys)
c.9154C>A (p.Gln3052Lys)
c.7330C>A (p.Gln2444Lys)
c.7333C>A (p.Gln2445Lys)
n.5596C>A
n.86C>A
c.8554C>A (p.Gln2852Lys)
c.7933C>A (p.Gln2645Lys)
c.8653C>A (p.Gln2885Lys)
c.9151C>A (p.Gln3051Lys)
c.6748C>A (p.Gln2250Lys)
2g.237334702C>ACA431698679COL6A3c.1611-1154G>T
c.8535G>T (p.Gly2845=)
c.1280G>T
c.21G>T (p.Gly7=)
c.9153G>T (p.Gly3051=)
c.7329G>T (p.Gly2443=)
c.7332G>T (p.Gly2444=)
n.5595G>T
n.85G>T
c.8553G>T (p.Gly2851=)
c.7932G>T (p.Gly2644=)
c.8652G>T (p.Gly2884=)
c.9150G>T (p.Gly3050=)
c.6747G>T (p.Gly2249=)
2g.237334702C>GCA431698680COL6A3c.1611-1154G>C
c.8535G>C (p.Gly2845=)
c.1280G>C
c.21G>C (p.Gly7=)
c.9153G>C (p.Gly3051=)
c.7329G>C (p.Gly2443=)
c.7332G>C (p.Gly2444=)
n.5595G>C
n.85G>C
c.8553G>C (p.Gly2851=)
c.7932G>C (p.Gly2644=)
c.8652G>C (p.Gly2884=)
c.9150G>C (p.Gly3050=)
c.6747G>C (p.Gly2249=)
2g.237334702C>TCA431698683COL6A3c.1611-1154G>A
c.8535G>A (p.Gly2845=)
c.1280G>A
c.21G>A (p.Gly7=)
c.9153G>A (p.Gly3051=)
c.7329G>A (p.Gly2443=)
c.7332G>A (p.Gly2444=)
n.5595G>A
n.85G>A
c.8553G>A (p.Gly2851=)
c.7932G>A (p.Gly2644=)
c.8652G>A (p.Gly2884=)
c.9150G>A (p.Gly3050=)
c.6747G>A (p.Gly2249=)
2g.237334703C>ACA351188303COL6A3c.1611-1155G>T
c.8534G>T (p.Gly2845Val)
c.1279G>T
c.20G>T (p.Gly7Val)
c.9152G>T (p.Gly3051Val)
c.7328G>T (p.Gly2443Val)
c.7331G>T (p.Gly2444Val)
n.5594G>T
n.84G>T
c.8552G>T (p.Gly2851Val)
c.7931G>T (p.Gly2644Val)
c.8651G>T (p.Gly2884Val)
c.9149G>T (p.Gly3050Val)
c.6746G>T (p.Gly2249Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.237334703C=CA1337606416COL6A3c.1611-1155G=
c.8534G= (p.Gly2845=)
c.1279G=
c.20G= (p.Gly7=)
c.9152G= (p.Gly3051=)
c.7328G= (p.Gly2443=)
c.7331G= (p.Gly2444=)
n.5594G=
n.84G=
c.8552G= (p.Gly2851=)
c.7931G= (p.Gly2644=)
c.8651G= (p.Gly2884=)
c.9149G= (p.Gly3050=)
c.6746G= (p.Gly2249=)
2g.237334703C>GCA351188305COL6A3c.1611-1155G>C
c.8534G>C (p.Gly2845Ala)
c.1279G>C
c.20G>C (p.Gly7Ala)
c.9152G>C (p.Gly3051Ala)
c.7328G>C (p.Gly2443Ala)
c.7331G>C (p.Gly2444Ala)
n.5594G>C
n.84G>C
c.8552G>C (p.Gly2851Ala)
c.7931G>C (p.Gly2644Ala)
c.8651G>C (p.Gly2884Ala)
c.9149G>C (p.Gly3050Ala)
c.6746G>C (p.Gly2249Ala)
 ClinVar
2g.237334703C>TCA351188307COL6A3c.1611-1155G>A
c.8534G>A (p.Gly2845Glu)
c.1279G>A
c.20G>A (p.Gly7Glu)
c.9152G>A (p.Gly3051Glu)
c.7328G>A (p.Gly2443Glu)
c.7331G>A (p.Gly2444Glu)
n.5594G>A
n.84G>A
c.8552G>A (p.Gly2851Glu)
c.7931G>A (p.Gly2644Glu)
c.8651G>A (p.Gly2884Glu)
c.9149G>A (p.Gly3050Glu)
c.6746G>A (p.Gly2249Glu)
2g.237334704C>ACA351188315COL6A3c.1611-1156G>T
c.8533G>T (p.Gly2845Trp)
c.1278G>T
c.19G>T (p.Gly7Trp)
c.9151G>T (p.Gly3051Trp)
c.7327G>T (p.Gly2443Trp)
c.7330G>T (p.Gly2444Trp)
n.5593G>T
n.83G>T
c.8551G>T (p.Gly2851Trp)
c.7930G>T (p.Gly2644Trp)
c.8650G>T (p.Gly2884Trp)
c.9148G>T (p.Gly3050Trp)
c.6745G>T (p.Gly2249Trp)
2g.237334704C=CA1337606417COL6A3c.1611-1156G=
c.8533G= (p.Gly2845=)
c.1278G=
c.19G= (p.Gly7=)
c.9151G= (p.Gly3051=)
c.7327G= (p.Gly2443=)
c.7330G= (p.Gly2444=)
n.5593G=
n.83G=
c.8551G= (p.Gly2851=)
c.7930G= (p.Gly2644=)
c.8650G= (p.Gly2884=)
c.9148G= (p.Gly3050=)
c.6745G= (p.Gly2249=)
2g.237334704C>GCA351188311COL6A3c.1611-1156G>C
c.8533G>C (p.Gly2845Arg)
c.1278G>C
c.19G>C (p.Gly7Arg)
c.9151G>C (p.Gly3051Arg)
c.7327G>C (p.Gly2443Arg)
c.7330G>C (p.Gly2444Arg)
n.5593G>C
n.83G>C
c.8551G>C (p.Gly2851Arg)
c.7930G>C (p.Gly2644Arg)
c.8650G>C (p.Gly2884Arg)
c.9148G>C (p.Gly3050Arg)
c.6745G>C (p.Gly2249Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.237334704C>TCA351188313COL6A3c.1611-1156G>A
c.8533G>A (p.Gly2845Arg)
c.1278G>A
c.19G>A (p.Gly7Arg)
c.9151G>A (p.Gly3051Arg)
c.7327G>A (p.Gly2443Arg)
c.7330G>A (p.Gly2444Arg)
n.5593G>A
n.83G>A
c.8551G>A (p.Gly2851Arg)
c.7930G>A (p.Gly2644Arg)
c.8650G>A (p.Gly2884Arg)
c.9148G>A (p.Gly3050Arg)
c.6745G>A (p.Gly2249Arg)
2g.237334705A>CCA431698691COL6A3c.1611-1157T>G
c.8532T>G (p.Ala2844=)
c.1277T>G
c.18T>G (p.Ala6=)
c.9150T>G (p.Ala3050=)
c.7326T>G (p.Ala2442=)
c.7329T>G (p.Ala2443=)
n.5592T>G
n.82T>G
c.8550T>G (p.Ala2850=)
c.7929T>G (p.Ala2643=)
c.8649T>G (p.Ala2883=)
c.9147T>G (p.Ala3049=)
c.6744T>G (p.Ala2248=)
2g.237334705A>GCA431698693COL6A3c.1611-1157T>C
c.8532T>C (p.Ala2844=)
c.1277T>C
c.18T>C (p.Ala6=)
c.9150T>C (p.Ala3050=)
c.7326T>C (p.Ala2442=)
c.7329T>C (p.Ala2443=)
n.5592T>C
n.82T>C
c.8550T>C (p.Ala2850=)
c.7929T>C (p.Ala2643=)
c.8649T>C (p.Ala2883=)
c.9147T>C (p.Ala3049=)
c.6744T>C (p.Ala2248=)
2g.237334705A>TCA431698695COL6A3c.1611-1157T>A
c.8532T>A (p.Ala2844=)
c.1277T>A
c.18T>A (p.Ala6=)
c.9150T>A (p.Ala3050=)
c.7326T>A (p.Ala2442=)
c.7329T>A (p.Ala2443=)
n.5592T>A
n.82T>A
c.8550T>A (p.Ala2850=)
c.7929T>A (p.Ala2643=)
c.8649T>A (p.Ala2883=)
c.9147T>A (p.Ala3049=)
c.6744T>A (p.Ala2248=)
2g.237334706G>ACA351188316COL6A3c.1611-1158C>T
c.8531C>T (p.Ala2844Val)
c.1276C>T
c.17C>T (p.Ala6Val)
c.9149C>T (p.Ala3050Val)
c.7325C>T (p.Ala2442Val)
c.7328C>T (p.Ala2443Val)
n.5591C>T
n.81C>T
c.8549C>T (p.Ala2850Val)
c.7928C>T (p.Ala2643Val)
c.8648C>T (p.Ala2883Val)
c.9146C>T (p.Ala3049Val)
c.6743C>T (p.Ala2248Val)
 gnomAD v4
2g.237334706G>CCA351188318COL6A3c.1611-1158C>G
c.8531C>G (p.Ala2844Gly)
c.1276C>G
c.17C>G (p.Ala6Gly)
c.9149C>G (p.Ala3050Gly)
c.7325C>G (p.Ala2442Gly)
c.7328C>G (p.Ala2443Gly)
n.5591C>G
n.81C>G
c.8549C>G (p.Ala2850Gly)
c.7928C>G (p.Ala2643Gly)
c.8648C>G (p.Ala2883Gly)
c.9146C>G (p.Ala3049Gly)
c.6743C>G (p.Ala2248Gly)
2g.237334706G>TCA351188320COL6A3c.1611-1158C>A
c.8531C>A (p.Ala2844Asp)
c.1276C>A
c.17C>A (p.Ala6Asp)
c.9149C>A (p.Ala3050Asp)
c.7325C>A (p.Ala2442Asp)
c.7328C>A (p.Ala2443Asp)
n.5591C>A
n.81C>A
c.8549C>A (p.Ala2850Asp)
c.7928C>A (p.Ala2643Asp)
c.8648C>A (p.Ala2883Asp)
c.9146C>A (p.Ala3049Asp)
c.6743C>A (p.Ala2248Asp)
 dbSNP
2g.237334707C>ACA2187347COL6A3c.1611-1159G>T
c.8530G>T (p.Ala2844Ser)
c.1275G>T
c.16G>T (p.Ala6Ser)
c.9148G>T (p.Ala3050Ser)
c.7324G>T (p.Ala2442Ser)
c.7327G>T (p.Ala2443Ser)
n.5590G>T
n.80G>T
c.8548G>T (p.Ala2850Ser)
c.7927G>T (p.Ala2643Ser)
c.8647G>T (p.Ala2883Ser)
c.9145G>T (p.Ala3049Ser)
c.6742G>T (p.Ala2248Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334707C=CA1337606418COL6A3c.1611-1159G=
c.8530G= (p.Ala2844=)
c.1275G=
c.16G= (p.Ala6=)
c.9148G= (p.Ala3050=)
c.7324G= (p.Ala2442=)
c.7327G= (p.Ala2443=)
n.5590G=
n.80G=
c.8548G= (p.Ala2850=)
c.7927G= (p.Ala2643=)
c.8647G= (p.Ala2883=)
c.9145G= (p.Ala3049=)
c.6742G= (p.Ala2248=)
2g.237334707C>GCA351188325COL6A3c.1611-1159G>C
c.8530G>C (p.Ala2844Pro)
c.1275G>C
c.16G>C (p.Ala6Pro)
c.9148G>C (p.Ala3050Pro)
c.7324G>C (p.Ala2442Pro)
c.7327G>C (p.Ala2443Pro)
n.5590G>C
n.80G>C
c.8548G>C (p.Ala2850Pro)
c.7927G>C (p.Ala2643Pro)
c.8647G>C (p.Ala2883Pro)
c.9145G>C (p.Ala3049Pro)
c.6742G>C (p.Ala2248Pro)
2g.237334707C>TCA2187346COL6A3c.1611-1159G>A
c.8530G>A (p.Ala2844Thr)
c.1275G>A
c.16G>A (p.Ala6Thr)
c.9148G>A (p.Ala3050Thr)
c.7324G>A (p.Ala2442Thr)
c.7327G>A (p.Ala2443Thr)
n.5590G>A
n.80G>A
c.8548G>A (p.Ala2850Thr)
c.7927G>A (p.Ala2643Thr)
c.8647G>A (p.Ala2883Thr)
c.9145G>A (p.Ala3049Thr)
c.6742G>A (p.Ala2248Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334708G>ACA2187348COL6A3c.1611-1160C>T
c.8529C>T (p.Leu2843=)
c.1274C>T
c.15C>T (p.Leu5=)
c.9147C>T (p.Leu3049=)
c.7323C>T (p.Leu2441=)
c.7326C>T (p.Leu2442=)
n.5589C>T
n.79C>T
c.8547C>T (p.Leu2849=)
c.7926C>T (p.Leu2642=)
c.8646C>T (p.Leu2882=)
c.9144C>T (p.Leu3048=)
c.6741C>T (p.Leu2247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334708G>CCA431698716COL6A3c.1611-1160C>G
c.8529C>G (p.Leu2843=)
c.1274C>G
c.15C>G (p.Leu5=)
c.9147C>G (p.Leu3049=)
c.7323C>G (p.Leu2441=)
c.7326C>G (p.Leu2442=)
n.5589C>G
n.79C>G
c.8547C>G (p.Leu2849=)
c.7926C>G (p.Leu2642=)
c.8646C>G (p.Leu2882=)
c.9144C>G (p.Leu3048=)
c.6741C>G (p.Leu2247=)
2g.237334708G=CA1337606419COL6A3c.1611-1160C=
c.8529C= (p.Leu2843=)
c.1274C=
c.15C= (p.Leu5=)
c.9147C= (p.Leu3049=)
c.7323C= (p.Leu2441=)
c.7326C= (p.Leu2442=)
n.5589C=
n.79C=
c.8547C= (p.Leu2849=)
c.7926C= (p.Leu2642=)
c.8646C= (p.Leu2882=)
c.9144C= (p.Leu3048=)
c.6741C= (p.Leu2247=)
2g.237334708G>TCA431698714COL6A3c.1611-1160C>A
c.8529C>A (p.Leu2843=)
c.1274C>A
c.15C>A (p.Leu5=)
c.9147C>A (p.Leu3049=)
c.7323C>A (p.Leu2441=)
c.7326C>A (p.Leu2442=)
n.5589C>A
n.79C>A
c.8547C>A (p.Leu2849=)
c.7926C>A (p.Leu2642=)
c.8646C>A (p.Leu2882=)
c.9144C>A (p.Leu3048=)
c.6741C>A (p.Leu2247=)
2g.237334709A>CCA351188332COL6A3c.1611-1161T>G
c.8528T>G (p.Leu2843Arg)
c.1273T>G
c.14T>G (p.Leu5Arg)
c.9146T>G (p.Leu3049Arg)
c.7322T>G (p.Leu2441Arg)
c.7325T>G (p.Leu2442Arg)
n.5588T>G
n.78T>G
c.8546T>G (p.Leu2849Arg)
c.7925T>G (p.Leu2642Arg)
c.8645T>G (p.Leu2882Arg)
c.9143T>G (p.Leu3048Arg)
c.6740T>G (p.Leu2247Arg)
2g.237334709A>GCA351188334COL6A3c.1611-1161T>C
c.8528T>C (p.Leu2843Pro)
c.1273T>C
c.14T>C (p.Leu5Pro)
c.9146T>C (p.Leu3049Pro)
c.7322T>C (p.Leu2441Pro)
c.7325T>C (p.Leu2442Pro)
n.5588T>C
n.78T>C
c.8546T>C (p.Leu2849Pro)
c.7925T>C (p.Leu2642Pro)
c.8645T>C (p.Leu2882Pro)
c.9143T>C (p.Leu3048Pro)
c.6740T>C (p.Leu2247Pro)
2g.237334709A>TCA351188336COL6A3c.1611-1161T>A
c.8528T>A (p.Leu2843His)
c.1273T>A
c.14T>A (p.Leu5His)
c.9146T>A (p.Leu3049His)
c.7322T>A (p.Leu2441His)
c.7325T>A (p.Leu2442His)
n.5588T>A
n.78T>A
c.8546T>A (p.Leu2849His)
c.7925T>A (p.Leu2642His)
c.8645T>A (p.Leu2882His)
c.9143T>A (p.Leu3048His)
c.6740T>A (p.Leu2247His)
2g.237334710G>ACA351188337COL6A3c.1611-1162C>T
c.8527C>T (p.Leu2843Phe)
c.1272C>T
c.13C>T (p.Leu5Phe)
c.9145C>T (p.Leu3049Phe)
c.7321C>T (p.Leu2441Phe)
c.7324C>T (p.Leu2442Phe)
n.5587C>T
n.77C>T
c.8545C>T (p.Leu2849Phe)
c.7924C>T (p.Leu2642Phe)
c.8644C>T (p.Leu2882Phe)
c.9142C>T (p.Leu3048Phe)
c.6739C>T (p.Leu2247Phe)
2g.237334710G>CCA351188340COL6A3c.1611-1162C>G
c.8527C>G (p.Leu2843Val)
c.1272C>G
c.13C>G (p.Leu5Val)
c.9145C>G (p.Leu3049Val)
c.7321C>G (p.Leu2441Val)
c.7324C>G (p.Leu2442Val)
n.5587C>G
n.77C>G
c.8545C>G (p.Leu2849Val)
c.7924C>G (p.Leu2642Val)
c.8644C>G (p.Leu2882Val)
c.9142C>G (p.Leu3048Val)
c.6739C>G (p.Leu2247Val)
2g.237334710G=CA1337606420COL6A3c.1611-1162C=
c.8527C= (p.Leu2843=)
c.1272C=
c.13C= (p.Leu5=)
c.9145C= (p.Leu3049=)
c.7321C= (p.Leu2441=)
c.7324C= (p.Leu2442=)
n.5587C=
n.77C=
c.8545C= (p.Leu2849=)
c.7924C= (p.Leu2642=)
c.8644C= (p.Leu2882=)
c.9142C= (p.Leu3048=)
c.6739C= (p.Leu2247=)
2g.237334710G>TCA351188343COL6A3c.1611-1162C>A
c.8527C>A (p.Leu2843Ile)
c.1272C>A
c.13C>A (p.Leu5Ile)
c.9145C>A (p.Leu3049Ile)
c.7321C>A (p.Leu2441Ile)
c.7324C>A (p.Leu2442Ile)
n.5587C>A
n.77C>A
c.8545C>A (p.Leu2849Ile)
c.7924C>A (p.Leu2642Ile)
c.8644C>A (p.Leu2882Ile)
c.9142C>A (p.Leu3048Ile)
c.6739C>A (p.Leu2247Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237334711C>ACA431698741COL6A3c.1611-1163G>T
c.8526G>T (p.Leu2842=)
c.1271G>T
c.12G>T (p.Leu4=)
c.9144G>T (p.Leu3048=)
c.7320G>T (p.Leu2440=)
c.7323G>T (p.Leu2441=)
n.5586G>T
n.76G>T
c.8544G>T (p.Leu2848=)
c.7923G>T (p.Leu2641=)
c.8643G>T (p.Leu2881=)
c.9141G>T (p.Leu3047=)
c.6738G>T (p.Leu2246=)
2g.237334711C>GCA431698737COL6A3c.1611-1163G>C
c.8526G>C (p.Leu2842=)
c.1271G>C
c.12G>C (p.Leu4=)
c.9144G>C (p.Leu3048=)
c.7320G>C (p.Leu2440=)
c.7323G>C (p.Leu2441=)
n.5586G>C
n.76G>C
c.8544G>C (p.Leu2848=)
c.7923G>C (p.Leu2641=)
c.8643G>C (p.Leu2881=)
c.9141G>C (p.Leu3047=)
c.6738G>C (p.Leu2246=)
2g.237334711C>TCA431698739COL6A3c.1611-1163G>A
c.8526G>A (p.Leu2842=)
c.1271G>A
c.12G>A (p.Leu4=)
c.9144G>A (p.Leu3048=)
c.7320G>A (p.Leu2440=)
c.7323G>A (p.Leu2441=)
n.5586G>A
n.76G>A
c.8544G>A (p.Leu2848=)
c.7923G>A (p.Leu2641=)
c.8643G>A (p.Leu2881=)
c.9141G>A (p.Leu3047=)
c.6738G>A (p.Leu2246=)
 gnomAD v4
2g.237334712A>CCA351188345COL6A3c.1611-1164T>G
c.8525T>G (p.Leu2842Arg)
c.1270T>G
c.11T>G (p.Leu4Arg)
c.9143T>G (p.Leu3048Arg)
c.7319T>G (p.Leu2440Arg)
c.7322T>G (p.Leu2441Arg)
n.5585T>G
n.75T>G
c.8543T>G (p.Leu2848Arg)
c.7922T>G (p.Leu2641Arg)
c.8642T>G (p.Leu2881Arg)
c.9140T>G (p.Leu3047Arg)
c.6737T>G (p.Leu2246Arg)
2g.237334712A>GCA351188349COL6A3c.1611-1164T>C
c.8525T>C (p.Leu2842Pro)
c.1270T>C
c.11T>C (p.Leu4Pro)
c.9143T>C (p.Leu3048Pro)
c.7319T>C (p.Leu2440Pro)
c.7322T>C (p.Leu2441Pro)
n.5585T>C
n.75T>C
c.8543T>C (p.Leu2848Pro)
c.7922T>C (p.Leu2641Pro)
c.8642T>C (p.Leu2881Pro)
c.9140T>C (p.Leu3047Pro)
c.6737T>C (p.Leu2246Pro)
2g.237334712A>TCA351188347COL6A3c.1611-1164T>A
c.8525T>A (p.Leu2842Gln)
c.1270T>A
c.11T>A (p.Leu4Gln)
c.9143T>A (p.Leu3048Gln)
c.7319T>A (p.Leu2440Gln)
c.7322T>A (p.Leu2441Gln)
n.5585T>A
n.75T>A
c.8543T>A (p.Leu2848Gln)
c.7922T>A (p.Leu2641Gln)
c.8642T>A (p.Leu2881Gln)
c.9140T>A (p.Leu3047Gln)
c.6737T>A (p.Leu2246Gln)
 gnomAD v4
2g.237334713G>ACA431698747COL6A3c.1611-1165C>T
c.8524C>T (p.Leu2842=)
c.1269C>T
c.10C>T (p.Leu4=)
c.9142C>T (p.Leu3048=)
c.7318C>T (p.Leu2440=)
c.7321C>T (p.Leu2441=)
n.5584C>T
n.74C>T
c.8542C>T (p.Leu2848=)
c.7921C>T (p.Leu2641=)
c.8641C>T (p.Leu2881=)
c.9139C>T (p.Leu3047=)
c.6736C>T (p.Leu2246=)
 COSMIC
2g.237334713G>CCA351188352COL6A3c.1611-1165C>G
c.8524C>G (p.Leu2842Val)
c.1269C>G
c.10C>G (p.Leu4Val)
c.9142C>G (p.Leu3048Val)
c.7318C>G (p.Leu2440Val)
c.7321C>G (p.Leu2441Val)
n.5584C>G
n.74C>G
c.8542C>G (p.Leu2848Val)
c.7921C>G (p.Leu2641Val)
c.8641C>G (p.Leu2881Val)
c.9139C>G (p.Leu3047Val)
c.6736C>G (p.Leu2246Val)
2g.237334713G>TCA351188355COL6A3c.1611-1165C>A
c.8524C>A (p.Leu2842Met)
c.1269C>A
c.10C>A (p.Leu4Met)
c.9142C>A (p.Leu3048Met)
c.7318C>A (p.Leu2440Met)
c.7321C>A (p.Leu2441Met)
n.5584C>A
n.74C>A
c.8542C>A (p.Leu2848Met)
c.7921C>A (p.Leu2641Met)
c.8641C>A (p.Leu2881Met)
c.9139C>A (p.Leu3047Met)
c.6736C>A (p.Leu2246Met)
2g.237334714G>ACA431698752COL6A3c.1611-1166C>T
c.8523C>T (p.Gly2841=)
c.1268C>T
c.9C>T (p.Gly3=)
c.9141C>T (p.Gly3047=)
c.7317C>T (p.Gly2439=)
c.7320C>T (p.Gly2440=)
n.5583C>T
n.73C>T
c.8541C>T (p.Gly2847=)
c.7920C>T (p.Gly2640=)
c.8640C>T (p.Gly2880=)
c.9138C>T (p.Gly3046=)
c.6735C>T (p.Gly2245=)
2g.237334714G>CCA2187349COL6A3c.1611-1166C>G
c.8523C>G (p.Gly2841=)
c.1268C>G
c.9C>G (p.Gly3=)
c.9141C>G (p.Gly3047=)
c.7317C>G (p.Gly2439=)
c.7320C>G (p.Gly2440=)
n.5583C>G
n.73C>G
c.8541C>G (p.Gly2847=)
c.7920C>G (p.Gly2640=)
c.8640C>G (p.Gly2880=)
c.9138C>G (p.Gly3046=)
c.6735C>G (p.Gly2245=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334714G=CA1337606421COL6A3c.1611-1166C=
c.8523C= (p.Gly2841=)
c.1268C=
c.9C= (p.Gly3=)
c.9141C= (p.Gly3047=)
c.7317C= (p.Gly2439=)
c.7320C= (p.Gly2440=)
n.5583C=
n.73C=
c.8541C= (p.Gly2847=)
c.7920C= (p.Gly2640=)
c.8640C= (p.Gly2880=)
c.9138C= (p.Gly3046=)
c.6735C= (p.Gly2245=)
2g.237334714G>TCA431698756COL6A3c.1611-1166C>A
c.8523C>A (p.Gly2841=)
c.1268C>A
c.9C>A (p.Gly3=)
c.9141C>A (p.Gly3047=)
c.7317C>A (p.Gly2439=)
c.7320C>A (p.Gly2440=)
n.5583C>A
n.73C>A
c.8541C>A (p.Gly2847=)
c.7920C>A (p.Gly2640=)
c.8640C>A (p.Gly2880=)
c.9138C>A (p.Gly3046=)
c.6735C>A (p.Gly2245=)
 dbSNP gnomAD v3 gnomAD v4
2g.237334715C>ACA351188363COL6A3c.1611-1167G>T
c.8522G>T (p.Gly2841Val)
c.1267G>T
c.8G>T (p.Gly3Val)
c.9140G>T (p.Gly3047Val)
c.7316G>T (p.Gly2439Val)
c.7319G>T (p.Gly2440Val)
n.5582G>T
n.72G>T
c.8540G>T (p.Gly2847Val)
c.7919G>T (p.Gly2640Val)
c.8639G>T (p.Gly2880Val)
c.9137G>T (p.Gly3046Val)
c.6734G>T (p.Gly2245Val)
 dbSNP
2g.237334715C=CA1337606422COL6A3c.1611-1167G=
c.8522G= (p.Gly2841=)
c.1267G=
c.8G= (p.Gly3=)
c.9140G= (p.Gly3047=)
c.7316G= (p.Gly2439=)
c.7319G= (p.Gly2440=)
n.5582G=
n.72G=
c.8540G= (p.Gly2847=)
c.7919G= (p.Gly2640=)
c.8639G= (p.Gly2880=)
c.9137G= (p.Gly3046=)
c.6734G= (p.Gly2245=)
2g.237334715C>GCA351188366COL6A3c.1611-1167G>C
c.8522G>C (p.Gly2841Ala)
c.1267G>C
c.8G>C (p.Gly3Ala)
c.9140G>C (p.Gly3047Ala)
c.7316G>C (p.Gly2439Ala)
c.7319G>C (p.Gly2440Ala)
n.5582G>C
n.72G>C
c.8540G>C (p.Gly2847Ala)
c.7919G>C (p.Gly2640Ala)
c.8639G>C (p.Gly2880Ala)
c.9137G>C (p.Gly3046Ala)
c.6734G>C (p.Gly2245Ala)
2g.237334715C>TCA351188368COL6A3c.1611-1167G>A
c.8522G>A (p.Gly2841Asp)
c.1267G>A
c.8G>A (p.Gly3Asp)
c.9140G>A (p.Gly3047Asp)
c.7316G>A (p.Gly2439Asp)
c.7319G>A (p.Gly2440Asp)
n.5582G>A
n.72G>A
c.8540G>A (p.Gly2847Asp)
c.7919G>A (p.Gly2640Asp)
c.8639G>A (p.Gly2880Asp)
c.9137G>A (p.Gly3046Asp)
c.6734G>A (p.Gly2245Asp)
2g.237334716C>ACA351188371COL6A3c.1611-1168G>T
c.8521G>T (p.Gly2841Cys)
c.1266G>T
c.7G>T (p.Gly3Cys)
c.9139G>T (p.Gly3047Cys)
c.7315G>T (p.Gly2439Cys)
c.7318G>T (p.Gly2440Cys)
n.5581G>T
n.71G>T
c.8539G>T (p.Gly2847Cys)
c.7918G>T (p.Gly2640Cys)
c.8638G>T (p.Gly2880Cys)
c.9136G>T (p.Gly3046Cys)
c.6733G>T (p.Gly2245Cys)
2g.237334716C=CA1337606423COL6A3c.1611-1168G=
c.8521G= (p.Gly2841=)
c.1266G=
c.7G= (p.Gly3=)
c.9139G= (p.Gly3047=)
c.7315G= (p.Gly2439=)
c.7318G= (p.Gly2440=)
n.5581G=
n.71G=
c.8539G= (p.Gly2847=)
c.7918G= (p.Gly2640=)
c.8638G= (p.Gly2880=)
c.9136G= (p.Gly3046=)
c.6733G= (p.Gly2245=)
2g.237334716C>GCA351188373COL6A3c.1611-1168G>C
c.8521G>C (p.Gly2841Arg)
c.1266G>C
c.7G>C (p.Gly3Arg)
c.9139G>C (p.Gly3047Arg)
c.7315G>C (p.Gly2439Arg)
c.7318G>C (p.Gly2440Arg)
n.5581G>C
n.71G>C
c.8539G>C (p.Gly2847Arg)
c.7918G>C (p.Gly2640Arg)
c.8638G>C (p.Gly2880Arg)
c.9136G>C (p.Gly3046Arg)
c.6733G>C (p.Gly2245Arg)
2g.237334716C>TCA351188378COL6A3c.1611-1168G>A
c.8521G>A (p.Gly2841Ser)
c.1266G>A
c.7G>A (p.Gly3Ser)
c.9139G>A (p.Gly3047Ser)
c.7315G>A (p.Gly2439Ser)
c.7318G>A (p.Gly2440Ser)
n.5581G>A
n.71G>A
c.8539G>A (p.Gly2847Ser)
c.7918G>A (p.Gly2640Ser)
c.8638G>A (p.Gly2880Ser)
c.9136G>A (p.Gly3046Ser)
c.6733G>A (p.Gly2245Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.237334717T>ACA431698770COL6A3c.1611-1169A>T
c.8520A>T (p.Gly2840=)
c.1265A>T
c.6A>T (p.Gly2=)
c.9138A>T (p.Gly3046=)
c.7314A>T (p.Gly2438=)
c.7317A>T (p.Gly2439=)
n.5580A>T
n.70A>T
c.8538A>T (p.Gly2846=)
c.7917A>T (p.Gly2639=)
c.8637A>T (p.Gly2879=)
c.9135A>T (p.Gly3045=)
c.6732A>T (p.Gly2244=)
2g.237334717T>CCA431698771COL6A3c.1611-1169A>G
c.8520A>G (p.Gly2840=)
c.1265A>G
c.6A>G (p.Gly2=)
c.9138A>G (p.Gly3046=)
c.7314A>G (p.Gly2438=)
c.7317A>G (p.Gly2439=)
n.5580A>G
n.70A>G
c.8538A>G (p.Gly2846=)
c.7917A>G (p.Gly2639=)
c.8637A>G (p.Gly2879=)
c.9135A>G (p.Gly3045=)
c.6732A>G (p.Gly2244=)
 ClinVar dbSNP gnomAD v4
2g.237334717T>GCA431698772COL6A3c.1611-1169A>C
c.8520A>C (p.Gly2840=)
c.1265A>C
c.6A>C (p.Gly2=)
c.9138A>C (p.Gly3046=)
c.7314A>C (p.Gly2438=)
c.7317A>C (p.Gly2439=)
n.5580A>C
n.70A>C
c.8538A>C (p.Gly2846=)
c.7917A>C (p.Gly2639=)
c.8637A>C (p.Gly2879=)
c.9135A>C (p.Gly3045=)
c.6732A>C (p.Gly2244=)
 dbSNP
2g.237334717T=CA1337606424COL6A3c.1611-1169A=
c.8520A= (p.Gly2840=)
c.1265A=
c.6A= (p.Gly2=)
c.9138A= (p.Gly3046=)
c.7314A= (p.Gly2438=)
c.7317A= (p.Gly2439=)
n.5580A=
n.70A=
c.8538A= (p.Gly2846=)
c.7917A= (p.Gly2639=)
c.8637A= (p.Gly2879=)
c.9135A= (p.Gly3045=)
c.6732A= (p.Gly2244=)
2g.237334718C>ACA351188381COL6A3c.1611-1170G>T
c.8519G>T (p.Gly2840Val)
c.1264G>T
c.5G>T (p.Gly2Val)
c.9137G>T (p.Gly3046Val)
c.7313G>T (p.Gly2438Val)
c.7316G>T (p.Gly2439Val)
n.5579G>T
n.69G>T
c.8537G>T (p.Gly2846Val)
c.7916G>T (p.Gly2639Val)
c.8636G>T (p.Gly2879Val)
c.9134G>T (p.Gly3045Val)
c.6731G>T (p.Gly2244Val)
 ClinVar dbSNP gnomAD v4
2g.237334718C=CA1337606425COL6A3c.1611-1170G=
c.8519G= (p.Gly2840=)
c.1264G=
c.5G= (p.Gly2=)
c.9137G= (p.Gly3046=)
c.7313G= (p.Gly2438=)
c.7316G= (p.Gly2439=)
n.5579G=
n.69G=
c.8537G= (p.Gly2846=)
c.7916G= (p.Gly2639=)
c.8636G= (p.Gly2879=)
c.9134G= (p.Gly3045=)
c.6731G= (p.Gly2244=)
2g.237334718C>GCA351188384COL6A3c.1611-1170G>C
c.8519G>C (p.Gly2840Ala)
c.1264G>C
c.5G>C (p.Gly2Ala)
c.9137G>C (p.Gly3046Ala)
c.7313G>C (p.Gly2438Ala)
c.7316G>C (p.Gly2439Ala)
n.5579G>C
n.69G>C
c.8537G>C (p.Gly2846Ala)
c.7916G>C (p.Gly2639Ala)
c.8636G>C (p.Gly2879Ala)
c.9134G>C (p.Gly3045Ala)
c.6731G>C (p.Gly2244Ala)
 dbSNP
2g.237334718C>TCA351188383COL6A3c.1611-1170G>A
c.8519G>A (p.Gly2840Glu)
c.1264G>A
c.5G>A (p.Gly2Glu)
c.9137G>A (p.Gly3046Glu)
c.7313G>A (p.Gly2438Glu)
c.7316G>A (p.Gly2439Glu)
n.5579G>A
n.69G>A
c.8537G>A (p.Gly2846Glu)
c.7916G>A (p.Gly2639Glu)
c.8636G>A (p.Gly2879Glu)
c.9134G>A (p.Gly3045Glu)
c.6731G>A (p.Gly2244Glu)
 gnomAD v4
2g.237334719C>ACA351188385COL6A3c.1611-1171G>T
c.8518G>T (p.Gly2840Ter)
c.1263G>T
c.4G>T (p.Gly2Ter)
c.9136G>T (p.Gly3046Ter)
c.7312G>T (p.Gly2438Ter)
c.7315G>T (p.Gly2439Ter)
n.5578G>T
n.68G>T
c.8536G>T (p.Gly2846Ter)
c.7915G>T (p.Gly2639Ter)
c.8635G>T (p.Gly2879Ter)
c.9133G>T (p.Gly3045Ter)
c.6730G>T (p.Gly2244Ter)
2g.237334719C>GCA351188386COL6A3c.1611-1171G>C
c.8518G>C (p.Gly2840Arg)
c.1263G>C
c.4G>C (p.Gly2Arg)
c.9136G>C (p.Gly3046Arg)
c.7312G>C (p.Gly2438Arg)
c.7315G>C (p.Gly2439Arg)
n.5578G>C
n.68G>C
c.8536G>C (p.Gly2846Arg)
c.7915G>C (p.Gly2639Arg)
c.8635G>C (p.Gly2879Arg)
c.9133G>C (p.Gly3045Arg)
c.6730G>C (p.Gly2244Arg)
2g.237334719C>TCA351188387COL6A3c.1611-1171G>A
c.8518G>A (p.Gly2840Arg)
c.1263G>A
c.4G>A (p.Gly2Arg)
c.9136G>A (p.Gly3046Arg)
c.7312G>A (p.Gly2438Arg)
c.7315G>A (p.Gly2439Arg)
n.5578G>A
n.68G>A
c.8536G>A (p.Gly2846Arg)
c.7915G>A (p.Gly2639Arg)
c.8635G>A (p.Gly2879Arg)
c.9133G>A (p.Gly3045Arg)
c.6730G>A (p.Gly2244Arg)
2g.237334720A>CCA351188389COL6A3c.1611-1172T>G
c.8517T>G (p.Ile2839Met)
c.1262T>G
c.3T>G (p.Ile1Met)
c.9135T>G (p.Ile3045Met)
c.7311T>G (p.Ile2437Met)
c.7314T>G (p.Ile2438Met)
n.5577T>G
n.67T>G
c.8535T>G (p.Ile2845Met)
c.7914T>G (p.Ile2638Met)
c.8634T>G (p.Ile2878Met)
c.9132T>G (p.Ile3044Met)
c.6729T>G (p.Ile2243Met)
2g.237334720A>GCA431698785COL6A3c.1611-1172T>C
c.8517T>C (p.Ile2839=)
c.1262T>C
c.3T>C (p.Ile1=)
c.9135T>C (p.Ile3045=)
c.7311T>C (p.Ile2437=)
c.7314T>C (p.Ile2438=)
n.5577T>C
n.67T>C
c.8535T>C (p.Ile2845=)
c.7914T>C (p.Ile2638=)
c.8634T>C (p.Ile2878=)
c.9132T>C (p.Ile3044=)
c.6729T>C (p.Ile2243=)
2g.237334720A>TCA431698787COL6A3c.1611-1172T>A
c.8517T>A (p.Ile2839=)
c.1262T>A
c.3T>A (p.Ile1=)
c.9135T>A (p.Ile3045=)
c.7311T>A (p.Ile2437=)
c.7314T>A (p.Ile2438=)
n.5577T>A
n.67T>A
c.8535T>A (p.Ile2845=)
c.7914T>A (p.Ile2638=)
c.8634T>A (p.Ile2878=)
c.9132T>A (p.Ile3044=)
c.6729T>A (p.Ile2243=)
2g.237334721A=CA1337606426COL6A3c.1611-1173T=
c.8516T= (p.Ile2839=)
c.1261T=
c.2T= (p.Ile1=)
c.9134T= (p.Ile3045=)
c.7310T= (p.Ile2437=)
c.7313T= (p.Ile2438=)
n.5576T=
n.66T=
c.8534T= (p.Ile2845=)
c.7913T= (p.Ile2638=)
c.8633T= (p.Ile2878=)
c.9131T= (p.Ile3044=)
c.6728T= (p.Ile2243=)
2g.237334721A>CCA351188392COL6A3c.1611-1173T>G
c.8516T>G (p.Ile2839Ser)
c.1261T>G
c.2T>G (p.Ile1Ser)
c.9134T>G (p.Ile3045Ser)
c.7310T>G (p.Ile2437Ser)
c.7313T>G (p.Ile2438Ser)
n.5576T>G
n.66T>G
c.8534T>G (p.Ile2845Ser)
c.7913T>G (p.Ile2638Ser)
c.8633T>G (p.Ile2878Ser)
c.9131T>G (p.Ile3044Ser)
c.6728T>G (p.Ile2243Ser)
2g.237334721A>GCA351188395COL6A3c.1611-1173T>C
c.8516T>C (p.Ile2839Thr)
c.1261T>C
c.2T>C (p.Ile1Thr)
c.9134T>C (p.Ile3045Thr)
c.7310T>C (p.Ile2437Thr)
c.7313T>C (p.Ile2438Thr)
n.5576T>C
n.66T>C
c.8534T>C (p.Ile2845Thr)
c.7913T>C (p.Ile2638Thr)
c.8633T>C (p.Ile2878Thr)
c.9131T>C (p.Ile3044Thr)
c.6728T>C (p.Ile2243Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334721A>TCA351188393COL6A3c.1611-1173T>A
c.8516T>A (p.Ile2839Asn)
c.1261T>A
c.2T>A (p.Ile1Asn)
c.9134T>A (p.Ile3045Asn)
c.7310T>A (p.Ile2437Asn)
c.7313T>A (p.Ile2438Asn)
n.5576T>A
n.66T>A
c.8534T>A (p.Ile2845Asn)
c.7913T>A (p.Ile2638Asn)
c.8633T>A (p.Ile2878Asn)
c.9131T>A (p.Ile3044Asn)
c.6728T>A (p.Ile2243Asn)
2g.237334722T>ACA351188397COL6A3c.1611-1174A>T
c.8515A>T (p.Ile2839Phe)
c.1260A>T
c.1A>T (p.Ile1Phe)
c.9133A>T (p.Ile3045Phe)
c.7309A>T (p.Ile2437Phe)
c.7312A>T (p.Ile2438Phe)
n.5575A>T
n.65A>T
c.8533A>T (p.Ile2845Phe)
c.7912A>T (p.Ile2638Phe)
c.8632A>T (p.Ile2878Phe)
c.9130A>T (p.Ile3044Phe)
c.6727A>T (p.Ile2243Phe)
2g.237334722T>CCA351188398COL6A3c.1611-1174A>G
c.8515A>G (p.Ile2839Val)
c.1260A>G
c.1A>G (p.Ile1Val)
c.9133A>G (p.Ile3045Val)
c.7309A>G (p.Ile2437Val)
c.7312A>G (p.Ile2438Val)
n.5575A>G
n.65A>G
c.8533A>G (p.Ile2845Val)
c.7912A>G (p.Ile2638Val)
c.8632A>G (p.Ile2878Val)
c.9130A>G (p.Ile3044Val)
c.6727A>G (p.Ile2243Val)
 ClinVar dbSNP
2g.237334722T>GCA351188402COL6A3c.1611-1174A>C
c.8515A>C (p.Ile2839Leu)
c.1260A>C
c.1A>C (p.Ile1Leu)
c.9133A>C (p.Ile3045Leu)
c.7309A>C (p.Ile2437Leu)
c.7312A>C (p.Ile2438Leu)
n.5575A>C
n.65A>C
c.8533A>C (p.Ile2845Leu)
c.7912A>C (p.Ile2638Leu)
c.8632A>C (p.Ile2878Leu)
c.9130A>C (p.Ile3044Leu)
c.6727A>C (p.Ile2243Leu)
2g.237334722T=CA1337606427COL6A3c.1611-1174A=
c.8515A= (p.Ile2839=)
c.1260A=
c.1A= (p.Ile1=)
c.9133A= (p.Ile3045=)
c.7309A= (p.Ile2437=)
c.7312A= (p.Ile2438=)
n.5575A=
n.65A=
c.8533A= (p.Ile2845=)
c.7912A= (p.Ile2638=)
c.8632A= (p.Ile2878=)
c.9130A= (p.Ile3044=)
c.6727A= (p.Ile2243=)
2g.237334723G>ACA431698808COL6A3c.1611-1175C>T
c.8514C>T (p.Val2838=)
c.1259C>T
c.9132C>T (p.Val3044=)
c.7308C>T (p.Val2436=)
c.7311C>T (p.Val2437=)
n.5574C>T
n.64C>T
c.8532C>T (p.Val2844=)
c.7911C>T (p.Val2637=)
c.8631C>T (p.Val2877=)
c.9129C>T (p.Val3043=)
c.6726C>T (p.Val2242=)
2g.237334723G>CCA431698803COL6A3c.1611-1175C>G
c.8514C>G (p.Val2838=)
c.1259C>G
c.9132C>G (p.Val3044=)
c.7308C>G (p.Val2436=)
c.7311C>G (p.Val2437=)
n.5574C>G
n.64C>G
c.8532C>G (p.Val2844=)
c.7911C>G (p.Val2637=)
c.8631C>G (p.Val2877=)
c.9129C>G (p.Val3043=)
c.6726C>G (p.Val2242=)
2g.237334723G>TCA431698805COL6A3c.1611-1175C>A
c.8514C>A (p.Val2838=)
c.1259C>A
c.9132C>A (p.Val3044=)
c.7308C>A (p.Val2436=)
c.7311C>A (p.Val2437=)
n.5574C>A
n.64C>A
c.8532C>A (p.Val2844=)
c.7911C>A (p.Val2637=)
c.8631C>A (p.Val2877=)
c.9129C>A (p.Val3043=)
c.6726C>A (p.Val2242=)
2g.237334724A=CA1337606428COL6A3c.1611-1176T=
c.8513T= (p.Val2838=)
c.1258T=
c.9131T= (p.Val3044=)
c.7307T= (p.Val2436=)
c.7310T= (p.Val2437=)
n.5573T=
n.63T=
c.8531T= (p.Val2844=)
c.7910T= (p.Val2637=)
c.8630T= (p.Val2877=)
c.9128T= (p.Val3043=)
c.6725T= (p.Val2242=)
2g.237334724A>CCA351188405COL6A3c.1611-1176T>G
c.8513T>G (p.Val2838Gly)
c.1258T>G
c.9131T>G (p.Val3044Gly)
c.7307T>G (p.Val2436Gly)
c.7310T>G (p.Val2437Gly)
n.5573T>G
n.63T>G
c.8531T>G (p.Val2844Gly)
c.7910T>G (p.Val2637Gly)
c.8630T>G (p.Val2877Gly)
c.9128T>G (p.Val3043Gly)
c.6725T>G (p.Val2242Gly)
2g.237334724A>GCA2187350COL6A3c.1611-1176T>C
c.8513T>C (p.Val2838Ala)
c.1258T>C
c.9131T>C (p.Val3044Ala)
c.7307T>C (p.Val2436Ala)
c.7310T>C (p.Val2437Ala)
n.5573T>C
n.63T>C
c.8531T>C (p.Val2844Ala)
c.7910T>C (p.Val2637Ala)
c.8630T>C (p.Val2877Ala)
c.9128T>C (p.Val3043Ala)
c.6725T>C (p.Val2242Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334724A>TCA351188408COL6A3c.1611-1176T>A
c.8513T>A (p.Val2838Asp)
c.1258T>A
c.9131T>A (p.Val3044Asp)
c.7307T>A (p.Val2436Asp)
c.7310T>A (p.Val2437Asp)
n.5573T>A
n.63T>A
c.8531T>A (p.Val2844Asp)
c.7910T>A (p.Val2637Asp)
c.8630T>A (p.Val2877Asp)
c.9128T>A (p.Val3043Asp)
c.6725T>A (p.Val2242Asp)
2g.237334725C>ACA351188409COL6A3c.1611-1177G>T
c.8512G>T (p.Val2838Phe)
c.1257G>T
c.9130G>T (p.Val3044Phe)
c.7306G>T (p.Val2436Phe)
c.7309G>T (p.Val2437Phe)
n.5572G>T
n.62G>T
c.8530G>T (p.Val2844Phe)
c.7909G>T (p.Val2637Phe)
c.8629G>T (p.Val2877Phe)
c.9127G>T (p.Val3043Phe)
c.6724G>T (p.Val2242Phe)
2g.237334725C=CA1337606429COL6A3c.1611-1177G=
c.8512G= (p.Val2838=)
c.1257G=
c.9130G= (p.Val3044=)
c.7306G= (p.Val2436=)
c.7309G= (p.Val2437=)
n.5572G=
n.62G=
c.8530G= (p.Val2844=)
c.7909G= (p.Val2637=)
c.8629G= (p.Val2877=)
c.9127G= (p.Val3043=)
c.6724G= (p.Val2242=)
2g.237334725C>GCA351188411COL6A3c.1611-1177G>C
c.8512G>C (p.Val2838Leu)
c.1257G>C
c.9130G>C (p.Val3044Leu)
c.7306G>C (p.Val2436Leu)
c.7309G>C (p.Val2437Leu)
n.5572G>C
n.62G>C
c.8530G>C (p.Val2844Leu)
c.7909G>C (p.Val2637Leu)
c.8629G>C (p.Val2877Leu)
c.9127G>C (p.Val3043Leu)
c.6724G>C (p.Val2242Leu)
2g.237334725C>TCA2187351COL6A3c.1611-1177G>A
c.8512G>A (p.Val2838Ile)
c.1257G>A
c.9130G>A (p.Val3044Ile)
c.7306G>A (p.Val2436Ile)
c.7309G>A (p.Val2437Ile)
n.5572G>A
n.62G>A
c.8530G>A (p.Val2844Ile)
c.7909G>A (p.Val2637Ile)
c.8629G>A (p.Val2877Ile)
c.9127G>A (p.Val3043Ile)
c.6724G>A (p.Val2242Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334725dupCA2663791949COL6A3c.1611-1177dup
c.8512dup (p.Val2838GlyfsTer?)
c.1257dup
c.9130dup (p.Val3044GlyfsTer?)
c.7306dup (p.Val2436GlyfsTer?)
c.7309dup (p.Val2437GlyfsTer?)
n.5572dup
n.62dup
c.8530dup (p.Val2844GlyfsTer?)
c.7909dup (p.Val2637GlyfsTer?)
c.8629dup (p.Val2877GlyfsTer?)
c.9127dup (p.Val3043GlyfsTer?)
c.6724dup (p.Val2242GlyfsTer?)
 gnomAD v4
2g.237334726G>ACA148095COL6A3c.1611-1178C>T
c.8511C>T (p.Arg2837=)
c.1256C>T
c.9129C>T (p.Arg3043=)
c.7305C>T (p.Arg2435=)
c.7308C>T (p.Arg2436=)
n.5571C>T
n.61C>T
c.8529C>T (p.Arg2843=)
c.7908C>T (p.Arg2636=)
c.8628C>T (p.Arg2876=)
c.9126C>T (p.Arg3042=)
c.6723C>T (p.Arg2241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334726G>CCA431698823COL6A3c.1611-1178C>G
c.8511C>G (p.Arg2837=)
c.1256C>G
c.9129C>G (p.Arg3043=)
c.7305C>G (p.Arg2435=)
c.7308C>G (p.Arg2436=)
n.5571C>G
n.61C>G
c.8529C>G (p.Arg2843=)
c.7908C>G (p.Arg2636=)
c.8628C>G (p.Arg2876=)
c.9126C>G (p.Arg3042=)
c.6723C>G (p.Arg2241=)
2g.237334726G=CA1337606430COL6A3c.1611-1178C=
c.8511C= (p.Arg2837=)
c.1256C=
c.9129C= (p.Arg3043=)
c.7305C= (p.Arg2435=)
c.7308C= (p.Arg2436=)
n.5571C=
n.61C=
c.8529C= (p.Arg2843=)
c.7908C= (p.Arg2636=)
c.8628C= (p.Arg2876=)
c.9126C= (p.Arg3042=)
c.6723C= (p.Arg2241=)
2g.237334726G>TCA431698825COL6A3c.1611-1178C>A
c.8511C>A (p.Arg2837=)
c.1256C>A
c.9129C>A (p.Arg3043=)
c.7305C>A (p.Arg2435=)
c.7308C>A (p.Arg2436=)
n.5571C>A
n.61C>A
c.8529C>A (p.Arg2843=)
c.7908C>A (p.Arg2636=)
c.8628C>A (p.Arg2876=)
c.9126C>A (p.Arg3042=)
c.6723C>A (p.Arg2241=)
2g.237334727C>ACA351188418COL6A3c.1611-1179G>T
c.8510G>T (p.Arg2837Leu)
c.1255G>T
c.9128G>T (p.Arg3043Leu)
c.7304G>T (p.Arg2435Leu)
c.7307G>T (p.Arg2436Leu)
n.5570G>T
n.60G>T
c.8528G>T (p.Arg2843Leu)
c.7907G>T (p.Arg2636Leu)
c.8627G>T (p.Arg2876Leu)
c.9125G>T (p.Arg3042Leu)
c.6722G>T (p.Arg2241Leu)
 gnomAD v4
2g.237334727C=CA1337606431COL6A3c.1611-1179G=
c.8510G= (p.Arg2837=)
c.1255G=
c.9128G= (p.Arg3043=)
c.7304G= (p.Arg2435=)
c.7307G= (p.Arg2436=)
n.5570G=
n.60G=
c.8528G= (p.Arg2843=)
c.7907G= (p.Arg2636=)
c.8627G= (p.Arg2876=)
c.9125G= (p.Arg3042=)
c.6722G= (p.Arg2241=)
2g.237334727C>GCA351188416COL6A3c.1611-1179G>C
c.8510G>C (p.Arg2837Pro)
c.1255G>C
c.9128G>C (p.Arg3043Pro)
c.7304G>C (p.Arg2435Pro)
c.7307G>C (p.Arg2436Pro)
n.5570G>C
n.60G>C
c.8528G>C (p.Arg2843Pro)
c.7907G>C (p.Arg2636Pro)
c.8627G>C (p.Arg2876Pro)
c.9125G>C (p.Arg3042Pro)
c.6722G>C (p.Arg2241Pro)
 dbSNP
2g.237334727C>TCA200142COL6A3c.1611-1179G>A
c.8510G>A (p.Arg2837His)
c.1255G>A
c.9128G>A (p.Arg3043His)
c.7304G>A (p.Arg2435His)
c.7307G>A (p.Arg2436His)
n.5570G>A
n.60G>A
c.8528G>A (p.Arg2843His)
c.7907G>A (p.Arg2636His)
c.8627G>A (p.Arg2876His)
c.9125G>A (p.Arg3042His)
c.6722G>A (p.Arg2241His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334728G>ACA2187352COL6A3c.1611-1180C>T
c.8509C>T (p.Arg2837Cys)
c.1254C>T
c.9127C>T (p.Arg3043Cys)
c.7303C>T (p.Arg2435Cys)
c.7306C>T (p.Arg2436Cys)
n.5569C>T
n.59C>T
c.8527C>T (p.Arg2843Cys)
c.7906C>T (p.Arg2636Cys)
c.8626C>T (p.Arg2876Cys)
c.9124C>T (p.Arg3042Cys)
c.6721C>T (p.Arg2241Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334728G>CCA351188425COL6A3c.1611-1180C>G
c.8509C>G (p.Arg2837Gly)
c.1254C>G
c.9127C>G (p.Arg3043Gly)
c.7303C>G (p.Arg2435Gly)
c.7306C>G (p.Arg2436Gly)
n.5569C>G
n.59C>G
c.8527C>G (p.Arg2843Gly)
c.7906C>G (p.Arg2636Gly)
c.8626C>G (p.Arg2876Gly)
c.9124C>G (p.Arg3042Gly)
c.6721C>G (p.Arg2241Gly)
2g.237334728G=CA1337606432COL6A3c.1611-1180C=
c.8509C= (p.Arg2837=)
c.1254C=
c.9127C= (p.Arg3043=)
c.7303C= (p.Arg2435=)
c.7306C= (p.Arg2436=)
n.5569C=
n.59C=
c.8527C= (p.Arg2843=)
c.7906C= (p.Arg2636=)
c.8626C= (p.Arg2876=)
c.9124C= (p.Arg3042=)
c.6721C= (p.Arg2241=)
2g.237334728G>TCA2187353COL6A3c.1611-1180C>A
c.8509C>A (p.Arg2837Ser)
c.1254C>A
c.9127C>A (p.Arg3043Ser)
c.7303C>A (p.Arg2435Ser)
c.7306C>A (p.Arg2436Ser)
n.5569C>A
n.59C>A
c.8527C>A (p.Arg2843Ser)
c.7906C>A (p.Arg2636Ser)
c.8626C>A (p.Arg2876Ser)
c.9124C>A (p.Arg3042Ser)
c.6721C>A (p.Arg2241Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334729G>ACA431698839COL6A3c.1611-1181C>T
c.8508C>T (p.Asp2836=)
c.1253C>T
c.9126C>T (p.Asp3042=)
c.7302C>T (p.Asp2434=)
c.7305C>T (p.Asp2435=)
n.5568C>T
n.58C>T
c.8526C>T (p.Asp2842=)
c.7905C>T (p.Asp2635=)
c.8625C>T (p.Asp2875=)
c.9123C>T (p.Asp3041=)
c.6720C>T (p.Asp2240=)
2g.237334729G>CCA351188431COL6A3c.1611-1181C>G
c.8508C>G (p.Asp2836Glu)
c.1253C>G
c.9126C>G (p.Asp3042Glu)
c.7302C>G (p.Asp2434Glu)
c.7305C>G (p.Asp2435Glu)
n.5568C>G
n.58C>G
c.8526C>G (p.Asp2842Glu)
c.7905C>G (p.Asp2635Glu)
c.8625C>G (p.Asp2875Glu)
c.9123C>G (p.Asp3041Glu)
c.6720C>G (p.Asp2240Glu)
2g.237334729G>TCA351188432COL6A3c.1611-1181C>A
c.8508C>A (p.Asp2836Glu)
c.1253C>A
c.9126C>A (p.Asp3042Glu)
c.7302C>A (p.Asp2434Glu)
c.7305C>A (p.Asp2435Glu)
n.5568C>A
n.58C>A
c.8526C>A (p.Asp2842Glu)
c.7905C>A (p.Asp2635Glu)
c.8625C>A (p.Asp2875Glu)
c.9123C>A (p.Asp3041Glu)
c.6720C>A (p.Asp2240Glu)
2g.237334730T>ACA351188433COL6A3c.1611-1182A>T
c.8507A>T (p.Asp2836Val)
c.1252A>T
c.9125A>T (p.Asp3042Val)
c.7301A>T (p.Asp2434Val)
c.7304A>T (p.Asp2435Val)
n.5567A>T
n.57A>T
c.8525A>T (p.Asp2842Val)
c.7904A>T (p.Asp2635Val)
c.8624A>T (p.Asp2875Val)
c.9122A>T (p.Asp3041Val)
c.6719A>T (p.Asp2240Val)
2g.237334730T>CCA67829437COL6A3c.1611-1182A>G
c.8507A>G (p.Asp2836Gly)
c.1252A>G
c.9125A>G (p.Asp3042Gly)
c.7301A>G (p.Asp2434Gly)
c.7304A>G (p.Asp2435Gly)
n.5567A>G
n.57A>G
c.8525A>G (p.Asp2842Gly)
c.7904A>G (p.Asp2635Gly)
c.8624A>G (p.Asp2875Gly)
c.9122A>G (p.Asp3041Gly)
c.6719A>G (p.Asp2240Gly)
 dbSNP gnomAD v4
2g.237334730T>GCA351188434COL6A3c.1611-1182A>C
c.8507A>C (p.Asp2836Ala)
c.1252A>C
c.9125A>C (p.Asp3042Ala)
c.7301A>C (p.Asp2434Ala)
c.7304A>C (p.Asp2435Ala)
n.5567A>C
n.57A>C
c.8525A>C (p.Asp2842Ala)
c.7904A>C (p.Asp2635Ala)
c.8624A>C (p.Asp2875Ala)
c.9122A>C (p.Asp3041Ala)
c.6719A>C (p.Asp2240Ala)
2g.237334730T=CA1337606433COL6A3c.1611-1182A=
c.8507A= (p.Asp2836=)
c.1252A=
c.9125A= (p.Asp3042=)
c.7301A= (p.Asp2434=)
c.7304A= (p.Asp2435=)
n.5567A=
n.57A=
c.8525A= (p.Asp2842=)
c.7904A= (p.Asp2635=)
c.8624A= (p.Asp2875=)
c.9122A= (p.Asp3041=)
c.6719A= (p.Asp2240=)
2g.237334731C>ACA351188435COL6A3c.1611-1183G>T
c.8506G>T (p.Asp2836Tyr)
c.1251G>T
c.9124G>T (p.Asp3042Tyr)
c.7300G>T (p.Asp2434Tyr)
c.7303G>T (p.Asp2435Tyr)
n.5566G>T
n.56G>T
c.8524G>T (p.Asp2842Tyr)
c.7903G>T (p.Asp2635Tyr)
c.8623G>T (p.Asp2875Tyr)
c.9121G>T (p.Asp3041Tyr)
c.6718G>T (p.Asp2240Tyr)
2g.237334731C>GCA351188436COL6A3c.1611-1183G>C
c.8506G>C (p.Asp2836His)
c.1251G>C
c.9124G>C (p.Asp3042His)
c.7300G>C (p.Asp2434His)
c.7303G>C (p.Asp2435His)
n.5566G>C
n.56G>C
c.8524G>C (p.Asp2842His)
c.7903G>C (p.Asp2635His)
c.8623G>C (p.Asp2875His)
c.9121G>C (p.Asp3041His)
c.6718G>C (p.Asp2240His)
2g.237334731C>TCA351188439COL6A3c.1611-1183G>A
c.8506G>A (p.Asp2836Asn)
c.1251G>A
c.9124G>A (p.Asp3042Asn)
c.7300G>A (p.Asp2434Asn)
c.7303G>A (p.Asp2435Asn)
n.5566G>A
n.56G>A
c.8524G>A (p.Asp2842Asn)
c.7903G>A (p.Asp2635Asn)
c.8623G>A (p.Asp2875Asn)
c.9121G>A (p.Asp3041Asn)
c.6718G>A (p.Asp2240Asn)
2g.237334732C>ACA431698854COL6A3c.1611-1184G>T
c.8505G>T (p.Thr2835=)
c.1250G>T
c.9123G>T (p.Thr3041=)
c.7299G>T (p.Thr2433=)
c.7302G>T (p.Thr2434=)
n.5565G>T
n.55G>T
c.8523G>T (p.Thr2841=)
c.7902G>T (p.Thr2634=)
c.8622G>T (p.Thr2874=)
c.9120G>T (p.Thr3040=)
c.6717G>T (p.Thr2239=)
 gnomAD v4
2g.237334732C=CA1337606434COL6A3c.1611-1184G=
c.8505G= (p.Thr2835=)
c.1250G=
c.9123G= (p.Thr3041=)
c.7299G= (p.Thr2433=)
c.7302G= (p.Thr2434=)
n.5565G=
n.55G=
c.8523G= (p.Thr2841=)
c.7902G= (p.Thr2634=)
c.8622G= (p.Thr2874=)
c.9120G= (p.Thr3040=)
c.6717G= (p.Thr2239=)
2g.237334732C>GCA2187354COL6A3c.1611-1184G>C
c.8505G>C (p.Thr2835=)
c.1250G>C
c.9123G>C (p.Thr3041=)
c.7299G>C (p.Thr2433=)
c.7302G>C (p.Thr2434=)
n.5565G>C
n.55G>C
c.8523G>C (p.Thr2841=)
c.7902G>C (p.Thr2634=)
c.8622G>C (p.Thr2874=)
c.9120G>C (p.Thr3040=)
c.6717G>C (p.Thr2239=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334732C>TCA148092COL6A3c.1611-1184G>A
c.8505G>A (p.Thr2835=)
c.1250G>A
c.9123G>A (p.Thr3041=)
c.7299G>A (p.Thr2433=)
c.7302G>A (p.Thr2434=)
n.5565G>A
n.55G>A
c.8523G>A (p.Thr2841=)
c.7902G>A (p.Thr2634=)
c.8622G>A (p.Thr2874=)
c.9120G>A (p.Thr3040=)
c.6717G>A (p.Thr2239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334733G>ACA2187355COL6A3c.1611-1185C>T
c.8504C>T (p.Thr2835Met)
c.1249C>T
c.9122C>T (p.Thr3041Met)
c.7298C>T (p.Thr2433Met)
c.7301C>T (p.Thr2434Met)
n.5564C>T
n.54C>T
c.8522C>T (p.Thr2841Met)
c.7901C>T (p.Thr2634Met)
c.8621C>T (p.Thr2874Met)
c.9119C>T (p.Thr3040Met)
c.6716C>T (p.Thr2239Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334733G>CCA351188451COL6A3c.1611-1185C>G
c.8504C>G (p.Thr2835Arg)
c.1249C>G
c.9122C>G (p.Thr3041Arg)
c.7298C>G (p.Thr2433Arg)
c.7301C>G (p.Thr2434Arg)
n.5564C>G
n.54C>G
c.8522C>G (p.Thr2841Arg)
c.7901C>G (p.Thr2634Arg)
c.8621C>G (p.Thr2874Arg)
c.9119C>G (p.Thr3040Arg)
c.6716C>G (p.Thr2239Arg)
2g.237334733G=CA1337606435COL6A3c.1611-1185C=
c.8504C= (p.Thr2835=)
c.1249C=
c.9122C= (p.Thr3041=)
c.7298C= (p.Thr2433=)
c.7301C= (p.Thr2434=)
n.5564C=
n.54C=
c.8522C= (p.Thr2841=)
c.7901C= (p.Thr2634=)
c.8621C= (p.Thr2874=)
c.9119C= (p.Thr3040=)
c.6716C= (p.Thr2239=)
2g.237334733G>TCA351188447COL6A3c.1611-1185C>A
c.8504C>A (p.Thr2835Lys)
c.1249C>A
c.9122C>A (p.Thr3041Lys)
c.7298C>A (p.Thr2433Lys)
c.7301C>A (p.Thr2434Lys)
n.5564C>A
n.54C>A
c.8522C>A (p.Thr2841Lys)
c.7901C>A (p.Thr2634Lys)
c.8621C>A (p.Thr2874Lys)
c.9119C>A (p.Thr3040Lys)
c.6716C>A (p.Thr2239Lys)
 gnomAD v4
2g.237334734T>ACA351188453COL6A3c.1611-1186A>T
c.8503A>T (p.Thr2835Ser)
c.1248A>T
c.9121A>T (p.Thr3041Ser)
c.7297A>T (p.Thr2433Ser)
c.7300A>T (p.Thr2434Ser)
n.5563A>T
n.53A>T
c.8521A>T (p.Thr2841Ser)
c.7900A>T (p.Thr2634Ser)
c.8620A>T (p.Thr2874Ser)
c.9118A>T (p.Thr3040Ser)
c.6715A>T (p.Thr2239Ser)
2g.237334734T>CCA351188456COL6A3c.1611-1186A>G
c.8503A>G (p.Thr2835Ala)
c.1248A>G
c.9121A>G (p.Thr3041Ala)
c.7297A>G (p.Thr2433Ala)
c.7300A>G (p.Thr2434Ala)
n.5563A>G
n.53A>G
c.8521A>G (p.Thr2841Ala)
c.7900A>G (p.Thr2634Ala)
c.8620A>G (p.Thr2874Ala)
c.9118A>G (p.Thr3040Ala)
c.6715A>G (p.Thr2239Ala)
2g.237334734T>GCA351188460COL6A3c.1611-1186A>C
c.8503A>C (p.Thr2835Pro)
c.1248A>C
c.9121A>C (p.Thr3041Pro)
c.7297A>C (p.Thr2433Pro)
c.7300A>C (p.Thr2434Pro)
n.5563A>C
n.53A>C
c.8521A>C (p.Thr2841Pro)
c.7900A>C (p.Thr2634Pro)
c.8620A>C (p.Thr2874Pro)
c.9118A>C (p.Thr3040Pro)
c.6715A>C (p.Thr2239Pro)
2g.237334735G>ACA431698869COL6A3c.1611-1187C>T
c.8502C>T (p.Val2834=)
c.1247C>T
c.9120C>T (p.Val3040=)
c.7296C>T (p.Val2432=)
c.7299C>T (p.Val2433=)
n.5562C>T
n.52C>T
c.8520C>T (p.Val2840=)
c.7899C>T (p.Val2633=)
c.8619C>T (p.Val2873=)
c.9117C>T (p.Val3039=)
c.6714C>T (p.Val2238=)
2g.237334735G>CCA431698865COL6A3c.1611-1187C>G
c.8502C>G (p.Val2834=)
c.1247C>G
c.9120C>G (p.Val3040=)
c.7296C>G (p.Val2432=)
c.7299C>G (p.Val2433=)
n.5562C>G
n.52C>G
c.8520C>G (p.Val2840=)
c.7899C>G (p.Val2633=)
c.8619C>G (p.Val2873=)
c.9117C>G (p.Val3039=)
c.6714C>G (p.Val2238=)
2g.237334735G>TCA431698867COL6A3c.1611-1187C>A
c.8502C>A (p.Val2834=)
c.1247C>A
c.9120C>A (p.Val3040=)
c.7296C>A (p.Val2432=)
c.7299C>A (p.Val2433=)
n.5562C>A
n.52C>A
c.8520C>A (p.Val2840=)
c.7899C>A (p.Val2633=)
c.8619C>A (p.Val2873=)
c.9117C>A (p.Val3039=)
c.6714C>A (p.Val2238=)
2g.237334736A>CCA351188461COL6A3c.1611-1188T>G
c.8501T>G (p.Val2834Gly)
c.1246T>G
c.9119T>G (p.Val3040Gly)
c.7295T>G (p.Val2432Gly)
c.7298T>G (p.Val2433Gly)
n.5561T>G
n.51T>G
c.8519T>G (p.Val2840Gly)
c.7898T>G (p.Val2633Gly)
c.8618T>G (p.Val2873Gly)
c.9116T>G (p.Val3039Gly)
c.6713T>G (p.Val2238Gly)
2g.237334736A>GCA351188463COL6A3c.1611-1188T>C
c.8501T>C (p.Val2834Ala)
c.1246T>C
c.9119T>C (p.Val3040Ala)
c.7295T>C (p.Val2432Ala)
c.7298T>C (p.Val2433Ala)
n.5561T>C
n.51T>C
c.8519T>C (p.Val2840Ala)
c.7898T>C (p.Val2633Ala)
c.8618T>C (p.Val2873Ala)
c.9116T>C (p.Val3039Ala)
c.6713T>C (p.Val2238Ala)
2g.237334736A>TCA351188464COL6A3c.1611-1188T>A
c.8501T>A (p.Val2834Asp)
c.1246T>A
c.9119T>A (p.Val3040Asp)
c.7295T>A (p.Val2432Asp)
c.7298T>A (p.Val2433Asp)
n.5561T>A
n.51T>A
c.8519T>A (p.Val2840Asp)
c.7898T>A (p.Val2633Asp)
c.8618T>A (p.Val2873Asp)
c.9116T>A (p.Val3039Asp)
c.6713T>A (p.Val2238Asp)
2g.237334737C>ACA351188466COL6A3c.1611-1189G>T
c.8500G>T (p.Val2834Phe)
c.1245G>T
c.9118G>T (p.Val3040Phe)
c.7294G>T (p.Val2432Phe)
c.7297G>T (p.Val2433Phe)
n.5560G>T
n.50G>T
c.8518G>T (p.Val2840Phe)
c.7897G>T (p.Val2633Phe)
c.8617G>T (p.Val2873Phe)
c.9115G>T (p.Val3039Phe)
c.6712G>T (p.Val2238Phe)
2g.237334737C>GCA351188470COL6A3c.1611-1189G>C
c.8500G>C (p.Val2834Leu)
c.1245G>C
c.9118G>C (p.Val3040Leu)
c.7294G>C (p.Val2432Leu)
c.7297G>C (p.Val2433Leu)
n.5560G>C
n.50G>C
c.8518G>C (p.Val2840Leu)
c.7897G>C (p.Val2633Leu)
c.8617G>C (p.Val2873Leu)
c.9115G>C (p.Val3039Leu)
c.6712G>C (p.Val2238Leu)
2g.237334737C>TCA351188468COL6A3c.1611-1189G>A
c.8500G>A (p.Val2834Ile)
c.1245G>A
c.9118G>A (p.Val3040Ile)
c.7294G>A (p.Val2432Ile)
c.7297G>A (p.Val2433Ile)
n.5560G>A
n.50G>A
c.8518G>A (p.Val2840Ile)
c.7897G>A (p.Val2633Ile)
c.8617G>A (p.Val2873Ile)
c.9115G>A (p.Val3039Ile)
c.6712G>A (p.Val2238Ile)
2g.237334738C>ACA67829461COL6A3c.1611-1190G>T
c.8499G>T (p.Thr2833=)
c.1244G>T
c.9117G>T (p.Thr3039=)
c.7293G>T (p.Thr2431=)
c.7296G>T (p.Thr2432=)
n.5559G>T
n.49G>T
c.8517G>T (p.Thr2839=)
c.7896G>T (p.Thr2632=)
c.8616G>T (p.Thr2872=)
c.9114G>T (p.Thr3038=)
c.6711G>T (p.Thr2237=)
 dbSNP
2g.237334738C=CA1337606436COL6A3c.1611-1190G=
c.8499G= (p.Thr2833=)
c.1244G=
c.9117G= (p.Thr3039=)
c.7293G= (p.Thr2431=)
c.7296G= (p.Thr2432=)
n.5559G=
n.49G=
c.8517G= (p.Thr2839=)
c.7896G= (p.Thr2632=)
c.8616G= (p.Thr2872=)
c.9114G= (p.Thr3038=)
c.6711G= (p.Thr2237=)
2g.237334738C>GCA431698884COL6A3c.1611-1190G>C
c.8499G>C (p.Thr2833=)
c.1244G>C
c.9117G>C (p.Thr3039=)
c.7293G>C (p.Thr2431=)
c.7296G>C (p.Thr2432=)
n.5559G>C
n.49G>C
c.8517G>C (p.Thr2839=)
c.7896G>C (p.Thr2632=)
c.8616G>C (p.Thr2872=)
c.9114G>C (p.Thr3038=)
c.6711G>C (p.Thr2237=)
2g.237334738C>TCA2187356COL6A3c.1611-1190G>A
c.8499G>A (p.Thr2833=)
c.1244G>A
c.9117G>A (p.Thr3039=)
c.7293G>A (p.Thr2431=)
c.7296G>A (p.Thr2432=)
n.5559G>A
n.49G>A
c.8517G>A (p.Thr2839=)
c.7896G>A (p.Thr2632=)
c.8616G>A (p.Thr2872=)
c.9114G>A (p.Thr3038=)
c.6711G>A (p.Thr2237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334739G>ACA2187357COL6A3c.1611-1191C>T
c.8498C>T (p.Thr2833Met)
c.1243C>T
c.9116C>T (p.Thr3039Met)
c.7292C>T (p.Thr2431Met)
c.7295C>T (p.Thr2432Met)
n.5558C>T
n.48C>T
c.8516C>T (p.Thr2839Met)
c.7895C>T (p.Thr2632Met)
c.8615C>T (p.Thr2872Met)
c.9113C>T (p.Thr3038Met)
c.6710C>T (p.Thr2237Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334739G>CCA351188474COL6A3c.1611-1191C>G
c.8498C>G (p.Thr2833Arg)
c.1243C>G
c.9116C>G (p.Thr3039Arg)
c.7292C>G (p.Thr2431Arg)
c.7295C>G (p.Thr2432Arg)
n.5558C>G
n.48C>G
c.8516C>G (p.Thr2839Arg)
c.7895C>G (p.Thr2632Arg)
c.8615C>G (p.Thr2872Arg)
c.9113C>G (p.Thr3038Arg)
c.6710C>G (p.Thr2237Arg)
2g.237334739G=CA1337606437COL6A3c.1611-1191C=
c.8498C= (p.Thr2833=)
c.1243C=
c.9116C= (p.Thr3039=)
c.7292C= (p.Thr2431=)
c.7295C= (p.Thr2432=)
n.5558C=
n.48C=
c.8516C= (p.Thr2839=)
c.7895C= (p.Thr2632=)
c.8615C= (p.Thr2872=)
c.9113C= (p.Thr3038=)
c.6710C= (p.Thr2237=)
2g.237334739G>TCA351188475COL6A3c.1611-1191C>A
c.8498C>A (p.Thr2833Lys)
c.1243C>A
c.9116C>A (p.Thr3039Lys)
c.7292C>A (p.Thr2431Lys)
c.7295C>A (p.Thr2432Lys)
n.5558C>A
n.48C>A
c.8516C>A (p.Thr2839Lys)
c.7895C>A (p.Thr2632Lys)
c.8615C>A (p.Thr2872Lys)
c.9113C>A (p.Thr3038Lys)
c.6710C>A (p.Thr2237Lys)
 COSMIC
2g.237334740T>ACA351188478COL6A3c.1611-1192A>T
c.8497A>T (p.Thr2833Ser)
c.1242A>T
c.9115A>T (p.Thr3039Ser)
c.7291A>T (p.Thr2431Ser)
c.7294A>T (p.Thr2432Ser)
n.5557A>T
n.47A>T
c.8515A>T (p.Thr2839Ser)
c.7894A>T (p.Thr2632Ser)
c.8614A>T (p.Thr2872Ser)
c.9112A>T (p.Thr3038Ser)
c.6709A>T (p.Thr2237Ser)
2g.237334740T>CCA351188482COL6A3c.1611-1192A>G
c.8497A>G (p.Thr2833Ala)
c.1242A>G
c.9115A>G (p.Thr3039Ala)
c.7291A>G (p.Thr2431Ala)
c.7294A>G (p.Thr2432Ala)
n.5557A>G
n.47A>G
c.8515A>G (p.Thr2839Ala)
c.7894A>G (p.Thr2632Ala)
c.8614A>G (p.Thr2872Ala)
c.9112A>G (p.Thr3038Ala)
c.6709A>G (p.Thr2237Ala)
2g.237334740T>GCA351188480COL6A3c.1611-1192A>C
c.8497A>C (p.Thr2833Pro)
c.1242A>C
c.9115A>C (p.Thr3039Pro)
c.7291A>C (p.Thr2431Pro)
c.7294A>C (p.Thr2432Pro)
n.5557A>C
n.47A>C
c.8515A>C (p.Thr2839Pro)
c.7894A>C (p.Thr2632Pro)
c.8614A>C (p.Thr2872Pro)
c.9112A>C (p.Thr3038Pro)
c.6709A>C (p.Thr2237Pro)
2g.237334741G>ACA431698931COL6A3c.1611-1193C>T
c.8496C>T (p.Leu2832=)
c.1241C>T
c.9114C>T (p.Leu3038=)
c.7290C>T (p.Leu2430=)
c.7293C>T (p.Leu2431=)
n.5556C>T
n.46C>T
c.8514C>T (p.Leu2838=)
c.7893C>T (p.Leu2631=)
c.8613C>T (p.Leu2871=)
c.9111C>T (p.Leu3037=)
c.6708C>T (p.Leu2236=)
2g.237334741G>CCA431698934COL6A3c.1611-1193C>G
c.8496C>G (p.Leu2832=)
c.1241C>G
c.9114C>G (p.Leu3038=)
c.7290C>G (p.Leu2430=)
c.7293C>G (p.Leu2431=)
n.5556C>G
n.46C>G
c.8514C>G (p.Leu2838=)
c.7893C>G (p.Leu2631=)
c.8613C>G (p.Leu2871=)
c.9111C>G (p.Leu3037=)
c.6708C>G (p.Leu2236=)
2g.237334741G>TCA431698938COL6A3c.1611-1193C>A
c.8496C>A (p.Leu2832=)
c.1241C>A
c.9114C>A (p.Leu3038=)
c.7290C>A (p.Leu2430=)
c.7293C>A (p.Leu2431=)
n.5556C>A
n.46C>A
c.8514C>A (p.Leu2838=)
c.7893C>A (p.Leu2631=)
c.8613C>A (p.Leu2871=)
c.9111C>A (p.Leu3037=)
c.6708C>A (p.Leu2236=)
2g.237334742A>CCA351188485COL6A3c.1611-1194T>G
c.8495T>G (p.Leu2832Arg)
c.1240T>G
c.9113T>G (p.Leu3038Arg)
c.7289T>G (p.Leu2430Arg)
c.7292T>G (p.Leu2431Arg)
n.5555T>G
n.45T>G
c.8513T>G (p.Leu2838Arg)
c.7892T>G (p.Leu2631Arg)
c.8612T>G (p.Leu2871Arg)
c.9110T>G (p.Leu3037Arg)
c.6707T>G (p.Leu2236Arg)
2g.237334742A>GCA351188489COL6A3c.1611-1194T>C
c.8495T>C (p.Leu2832Pro)
c.1240T>C
c.9113T>C (p.Leu3038Pro)
c.7289T>C (p.Leu2430Pro)
c.7292T>C (p.Leu2431Pro)
n.5555T>C
n.45T>C
c.8513T>C (p.Leu2838Pro)
c.7892T>C (p.Leu2631Pro)
c.8612T>C (p.Leu2871Pro)
c.9110T>C (p.Leu3037Pro)
c.6707T>C (p.Leu2236Pro)
2g.237334742A>TCA351188487COL6A3c.1611-1194T>A
c.8495T>A (p.Leu2832His)
c.1240T>A
c.9113T>A (p.Leu3038His)
c.7289T>A (p.Leu2430His)
c.7292T>A (p.Leu2431His)
n.5555T>A
n.45T>A
c.8513T>A (p.Leu2838His)
c.7892T>A (p.Leu2631His)
c.8612T>A (p.Leu2871His)
c.9110T>A (p.Leu3037His)
c.6707T>A (p.Leu2236His)
2g.237334743G>ACA351188490COL6A3c.1611-1195C>T
c.8494C>T (p.Leu2832Phe)
c.1239C>T
c.9112C>T (p.Leu3038Phe)
c.7288C>T (p.Leu2430Phe)
c.7291C>T (p.Leu2431Phe)
n.5554C>T
n.44C>T
c.8512C>T (p.Leu2838Phe)
c.7891C>T (p.Leu2631Phe)
c.8611C>T (p.Leu2871Phe)
c.9109C>T (p.Leu3037Phe)
c.6706C>T (p.Leu2236Phe)
2g.237334743G>CCA351188493COL6A3c.1611-1195C>G
c.8494C>G (p.Leu2832Val)
c.1239C>G
c.9112C>G (p.Leu3038Val)
c.7288C>G (p.Leu2430Val)
c.7291C>G (p.Leu2431Val)
n.5554C>G
n.44C>G
c.8512C>G (p.Leu2838Val)
c.7891C>G (p.Leu2631Val)
c.8611C>G (p.Leu2871Val)
c.9109C>G (p.Leu3037Val)
c.6706C>G (p.Leu2236Val)
2g.237334743G>TCA351188491COL6A3c.1611-1195C>A
c.8494C>A (p.Leu2832Ile)
c.1239C>A
c.9112C>A (p.Leu3038Ile)
c.7288C>A (p.Leu2430Ile)
c.7291C>A (p.Leu2431Ile)
n.5554C>A
n.44C>A
c.8512C>A (p.Leu2838Ile)
c.7891C>A (p.Leu2631Ile)
c.8611C>A (p.Leu2871Ile)
c.9109C>A (p.Leu3037Ile)
c.6706C>A (p.Leu2236Ile)
2g.237334744G>ACA67829466COL6A3c.1611-1196C>T
c.8493C>T (p.Asn2831=)
c.1238C>T
c.9111C>T (p.Asn3037=)
c.7287C>T (p.Asn2429=)
c.7290C>T (p.Asn2430=)
n.5553C>T
n.43C>T
c.8511C>T (p.Asn2837=)
c.7890C>T (p.Asn2630=)
c.8610C>T (p.Asn2870=)
c.9108C>T (p.Asn3036=)
c.6705C>T (p.Asn2235=)
 dbSNP
2g.237334744G>CCA351188496COL6A3c.1611-1196C>G
c.8493C>G (p.Asn2831Lys)
c.1238C>G
c.9111C>G (p.Asn3037Lys)
c.7287C>G (p.Asn2429Lys)
c.7290C>G (p.Asn2430Lys)
n.5553C>G
n.43C>G
c.8511C>G (p.Asn2837Lys)
c.7890C>G (p.Asn2630Lys)
c.8610C>G (p.Asn2870Lys)
c.9108C>G (p.Asn3036Lys)
c.6705C>G (p.Asn2235Lys)
2g.237334744G=CA1337606438COL6A3c.1611-1196C=
c.8493C= (p.Asn2831=)
c.1238C=
c.9111C= (p.Asn3037=)
c.7287C= (p.Asn2429=)
c.7290C= (p.Asn2430=)
n.5553C=
n.43C=
c.8511C= (p.Asn2837=)
c.7890C= (p.Asn2630=)
c.8610C= (p.Asn2870=)
c.9108C= (p.Asn3036=)
c.6705C= (p.Asn2235=)
2g.237334744G>TCA2187358COL6A3c.1611-1196C>A
c.8493C>A (p.Asn2831Lys)
c.1238C>A
c.9111C>A (p.Asn3037Lys)
c.7287C>A (p.Asn2429Lys)
c.7290C>A (p.Asn2430Lys)
n.5553C>A
n.43C>A
c.8511C>A (p.Asn2837Lys)
c.7890C>A (p.Asn2630Lys)
c.8610C>A (p.Asn2870Lys)
c.9108C>A (p.Asn3036Lys)
c.6705C>A (p.Asn2235Lys)
 dbSNP ExAC gnomAD v2
2g.237334745T>ACA351188498COL6A3c.1611-1197A>T
c.8492A>T (p.Asn2831Ile)
c.1237A>T
c.9110A>T (p.Asn3037Ile)
c.7286A>T (p.Asn2429Ile)
c.7289A>T (p.Asn2430Ile)
n.5552A>T
n.42A>T
c.8510A>T (p.Asn2837Ile)
c.7889A>T (p.Asn2630Ile)
c.8609A>T (p.Asn2870Ile)
c.9107A>T (p.Asn3036Ile)
c.6704A>T (p.Asn2235Ile)
2g.237334745T>CCA351188500COL6A3c.1611-1197A>G
c.8492A>G (p.Asn2831Ser)
c.1237A>G
c.9110A>G (p.Asn3037Ser)
c.7286A>G (p.Asn2429Ser)
c.7289A>G (p.Asn2430Ser)
n.5552A>G
n.42A>G
c.8510A>G (p.Asn2837Ser)
c.7889A>G (p.Asn2630Ser)
c.8609A>G (p.Asn2870Ser)
c.9107A>G (p.Asn3036Ser)
c.6704A>G (p.Asn2235Ser)
2g.237334745T>GCA351188501COL6A3c.1611-1197A>C
c.8492A>C (p.Asn2831Thr)
c.1237A>C
c.9110A>C (p.Asn3037Thr)
c.7286A>C (p.Asn2429Thr)
c.7289A>C (p.Asn2430Thr)
n.5552A>C
n.42A>C
c.8510A>C (p.Asn2837Thr)
c.7889A>C (p.Asn2630Thr)
c.8609A>C (p.Asn2870Thr)
c.9107A>C (p.Asn3036Thr)
c.6704A>C (p.Asn2235Thr)
2g.237334746T>ACA351188503COL6A3c.1611-1198A>T
c.8491A>T (p.Asn2831Tyr)
c.1236A>T
c.9109A>T (p.Asn3037Tyr)
c.7285A>T (p.Asn2429Tyr)
c.7288A>T (p.Asn2430Tyr)
n.5551A>T
n.41A>T
c.8509A>T (p.Asn2837Tyr)
c.7888A>T (p.Asn2630Tyr)
c.8608A>T (p.Asn2870Tyr)
c.9106A>T (p.Asn3036Tyr)
c.6703A>T (p.Asn2235Tyr)
2g.237334746T>CCA2187359COL6A3c.1611-1198A>G
c.8491A>G (p.Asn2831Asp)
c.1236A>G
c.9109A>G (p.Asn3037Asp)
c.7285A>G (p.Asn2429Asp)
c.7288A>G (p.Asn2430Asp)
n.5551A>G
n.41A>G
c.8509A>G (p.Asn2837Asp)
c.7888A>G (p.Asn2630Asp)
c.8608A>G (p.Asn2870Asp)
c.9106A>G (p.Asn3036Asp)
c.6703A>G (p.Asn2235Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334746T>GCA351188506COL6A3c.1611-1198A>C
c.8491A>C (p.Asn2831His)
c.1236A>C
c.9109A>C (p.Asn3037His)
c.7285A>C (p.Asn2429His)
c.7288A>C (p.Asn2430His)
n.5551A>C
n.41A>C
c.8509A>C (p.Asn2837His)
c.7888A>C (p.Asn2630His)
c.8608A>C (p.Asn2870His)
c.9106A>C (p.Asn3036His)
c.6703A>C (p.Asn2235His)
2g.237334746T=CA1337606439COL6A3c.1611-1198A=
c.8491A= (p.Asn2831=)
c.1236A=
c.9109A= (p.Asn3037=)
c.7285A= (p.Asn2429=)
c.7288A= (p.Asn2430=)
n.5551A=
n.41A=
c.8509A= (p.Asn2837=)
c.7888A= (p.Asn2630=)
c.8608A= (p.Asn2870=)
c.9106A= (p.Asn3036=)
c.6703A= (p.Asn2235=)
2g.237334747C>ACA351188509COL6A3c.1611-1199G>T
c.8490G>T (p.Gln2830His)
c.1235G>T
c.9108G>T (p.Gln3036His)
c.7284G>T (p.Gln2428His)
c.7287G>T (p.Gln2429His)
n.5550G>T
n.40G>T
c.8508G>T (p.Gln2836His)
c.7887G>T (p.Gln2629His)
c.8607G>T (p.Gln2869His)
c.9105G>T (p.Gln3035His)
c.6702G>T (p.Gln2234His)
2g.237334747C=CA1337606440COL6A3c.1611-1199G=
c.8490G= (p.Gln2830=)
c.1235G=
c.9108G= (p.Gln3036=)
c.7284G= (p.Gln2428=)
c.7287G= (p.Gln2429=)
n.5550G=
n.40G=
c.8508G= (p.Gln2836=)
c.7887G= (p.Gln2629=)
c.8607G= (p.Gln2869=)
c.9105G= (p.Gln3035=)
c.6702G= (p.Gln2234=)
2g.237334747C>GCA67829472COL6A3c.1611-1199G>C
c.8490G>C (p.Gln2830His)
c.1235G>C
c.9108G>C (p.Gln3036His)
c.7284G>C (p.Gln2428His)
c.7287G>C (p.Gln2429His)
n.5550G>C
n.40G>C
c.8508G>C (p.Gln2836His)
c.7887G>C (p.Gln2629His)
c.8607G>C (p.Gln2869His)
c.9105G>C (p.Gln3035His)
c.6702G>C (p.Gln2234His)
 dbSNP gnomAD v4
2g.237334747C>TCA431699003COL6A3c.1611-1199G>A
c.8490G>A (p.Gln2830=)
c.1235G>A
c.9108G>A (p.Gln3036=)
c.7284G>A (p.Gln2428=)
c.7287G>A (p.Gln2429=)
n.5550G>A
n.40G>A
c.8508G>A (p.Gln2836=)
c.7887G>A (p.Gln2629=)
c.8607G>A (p.Gln2869=)
c.9105G>A (p.Gln3035=)
c.6702G>A (p.Gln2234=)
2g.237334748T>ACA351188516COL6A3c.1611-1200A>T
c.8489A>T (p.Gln2830Leu)
c.1234A>T
c.9107A>T (p.Gln3036Leu)
c.7283A>T (p.Gln2428Leu)
c.7286A>T (p.Gln2429Leu)
n.5549A>T
n.39A>T
c.8507A>T (p.Gln2836Leu)
c.7886A>T (p.Gln2629Leu)
c.8606A>T (p.Gln2869Leu)
c.9104A>T (p.Gln3035Leu)
c.6701A>T (p.Gln2234Leu)
2g.237334748T>CCA2187360COL6A3c.1611-1200A>G
c.8489A>G (p.Gln2830Arg)
c.1234A>G
c.9107A>G (p.Gln3036Arg)
c.7283A>G (p.Gln2428Arg)
c.7286A>G (p.Gln2429Arg)
n.5549A>G
n.39A>G
c.8507A>G (p.Gln2836Arg)
c.7886A>G (p.Gln2629Arg)
c.8606A>G (p.Gln2869Arg)
c.9104A>G (p.Gln3035Arg)
c.6701A>G (p.Gln2234Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334748T>GCA351188512COL6A3c.1611-1200A>C
c.8489A>C (p.Gln2830Pro)
c.1234A>C
c.9107A>C (p.Gln3036Pro)
c.7283A>C (p.Gln2428Pro)
c.7286A>C (p.Gln2429Pro)
n.5549A>C
n.39A>C
c.8507A>C (p.Gln2836Pro)
c.7886A>C (p.Gln2629Pro)
c.8606A>C (p.Gln2869Pro)
c.9104A>C (p.Gln3035Pro)
c.6701A>C (p.Gln2234Pro)
2g.237334748T=CA1337606441COL6A3c.1611-1200A=
c.8489A= (p.Gln2830=)
c.1234A=
c.9107A= (p.Gln3036=)
c.7283A= (p.Gln2428=)
c.7286A= (p.Gln2429=)
n.5549A=
n.39A=
c.8507A= (p.Gln2836=)
c.7886A= (p.Gln2629=)
c.8606A= (p.Gln2869=)
c.9104A= (p.Gln3035=)
c.6701A= (p.Gln2234=)
2g.237334749G>ACA351188517COL6A3c.1611-1201C>T
c.8488C>T (p.Gln2830Ter)
c.1233C>T
c.9106C>T (p.Gln3036Ter)
c.7282C>T (p.Gln2428Ter)
c.7285C>T (p.Gln2429Ter)
n.5548C>T
n.38C>T
c.8506C>T (p.Gln2836Ter)
c.7885C>T (p.Gln2629Ter)
c.8605C>T (p.Gln2869Ter)
c.9103C>T (p.Gln3035Ter)
c.6700C>T (p.Gln2234Ter)
2g.237334749G>CCA351188518COL6A3c.1611-1201C>G
c.8488C>G (p.Gln2830Glu)
c.1233C>G
c.9106C>G (p.Gln3036Glu)
c.7282C>G (p.Gln2428Glu)
c.7285C>G (p.Gln2429Glu)
n.5548C>G
n.38C>G
c.8506C>G (p.Gln2836Glu)
c.7885C>G (p.Gln2629Glu)
c.8605C>G (p.Gln2869Glu)
c.9103C>G (p.Gln3035Glu)
c.6700C>G (p.Gln2234Glu)
 gnomAD v4
2g.237334749G>TCA351188519COL6A3c.1611-1201C>A
c.8488C>A (p.Gln2830Lys)
c.1233C>A
c.9106C>A (p.Gln3036Lys)
c.7282C>A (p.Gln2428Lys)
c.7285C>A (p.Gln2429Lys)
n.5548C>A
n.38C>A
c.8506C>A (p.Gln2836Lys)
c.7885C>A (p.Gln2629Lys)
c.8605C>A (p.Gln2869Lys)
c.9103C>A (p.Gln3035Lys)
c.6700C>A (p.Gln2234Lys)
2g.237334750C>ACA351188520COL6A3c.1611-1202G>T
c.8487G>T (p.Lys2829Asn)
c.1232G>T
c.9105G>T (p.Lys3035Asn)
c.7281G>T (p.Lys2427Asn)
c.7284G>T (p.Lys2428Asn)
n.5547G>T
n.37G>T
c.8505G>T (p.Lys2835Asn)
c.7884G>T (p.Lys2628Asn)
c.8604G>T (p.Lys2868Asn)
c.9102G>T (p.Lys3034Asn)
c.6699G>T (p.Lys2233Asn)
2g.237334750C>GCA351188522COL6A3c.1611-1202G>C
c.8487G>C (p.Lys2829Asn)
c.1232G>C
c.9105G>C (p.Lys3035Asn)
c.7281G>C (p.Lys2427Asn)
c.7284G>C (p.Lys2428Asn)
n.5547G>C
n.37G>C
c.8505G>C (p.Lys2835Asn)
c.7884G>C (p.Lys2628Asn)
c.8604G>C (p.Lys2868Asn)
c.9102G>C (p.Lys3034Asn)
c.6699G>C (p.Lys2233Asn)
2g.237334750C>TCA431699036COL6A3c.1611-1202G>A
c.8487G>A (p.Lys2829=)
c.1232G>A
c.9105G>A (p.Lys3035=)
c.7281G>A (p.Lys2427=)
c.7284G>A (p.Lys2428=)
n.5547G>A
n.37G>A
c.8505G>A (p.Lys2835=)
c.7884G>A (p.Lys2628=)
c.8604G>A (p.Lys2868=)
c.9102G>A (p.Lys3034=)
c.6699G>A (p.Lys2233=)
2g.237334751T>ACA351188524COL6A3c.1611-1203A>T
c.8486A>T (p.Lys2829Met)
c.1231A>T
c.9104A>T (p.Lys3035Met)
c.7280A>T (p.Lys2427Met)
c.7283A>T (p.Lys2428Met)
n.5546A>T
n.36A>T
c.8504A>T (p.Lys2835Met)
c.7883A>T (p.Lys2628Met)
c.8603A>T (p.Lys2868Met)
c.9101A>T (p.Lys3034Met)
c.6698A>T (p.Lys2233Met)
2g.237334751T>CCA351188525COL6A3c.1611-1203A>G
c.8486A>G (p.Lys2829Arg)
c.1231A>G
c.9104A>G (p.Lys3035Arg)
c.7280A>G (p.Lys2427Arg)
c.7283A>G (p.Lys2428Arg)
n.5546A>G
n.36A>G
c.8504A>G (p.Lys2835Arg)
c.7883A>G (p.Lys2628Arg)
c.8603A>G (p.Lys2868Arg)
c.9101A>G (p.Lys3034Arg)
c.6698A>G (p.Lys2233Arg)
 gnomAD v4
2g.237334751T>GCA351188528COL6A3c.1611-1203A>C
c.8486A>C (p.Lys2829Thr)
c.1231A>C
c.9104A>C (p.Lys3035Thr)
c.7280A>C (p.Lys2427Thr)
c.7283A>C (p.Lys2428Thr)
n.5546A>C
n.36A>C
c.8504A>C (p.Lys2835Thr)
c.7883A>C (p.Lys2628Thr)
c.8603A>C (p.Lys2868Thr)
c.9101A>C (p.Lys3034Thr)
c.6698A>C (p.Lys2233Thr)
2g.237334752T>ACA351188531COL6A3c.1611-1204A>T
c.8485A>T (p.Lys2829Ter)
c.1230A>T
c.9103A>T (p.Lys3035Ter)
c.7279A>T (p.Lys2427Ter)
c.7282A>T (p.Lys2428Ter)
n.5545A>T
n.35A>T
c.8503A>T (p.Lys2835Ter)
c.7882A>T (p.Lys2628Ter)
c.8602A>T (p.Lys2868Ter)
c.9100A>T (p.Lys3034Ter)
c.6697A>T (p.Lys2233Ter)
2g.237334752T>CCA351188535COL6A3c.1611-1204A>G
c.8485A>G (p.Lys2829Glu)
c.1230A>G
c.9103A>G (p.Lys3035Glu)
c.7279A>G (p.Lys2427Glu)
c.7282A>G (p.Lys2428Glu)
n.5545A>G
n.35A>G
c.8503A>G (p.Lys2835Glu)
c.7882A>G (p.Lys2628Glu)
c.8602A>G (p.Lys2868Glu)
c.9100A>G (p.Lys3034Glu)
c.6697A>G (p.Lys2233Glu)
2g.237334752T>GCA351188537COL6A3c.1611-1204A>C
c.8485A>C (p.Lys2829Gln)
c.1230A>C
c.9103A>C (p.Lys3035Gln)
c.7279A>C (p.Lys2427Gln)
c.7282A>C (p.Lys2428Gln)
n.5545A>C
n.35A>C
c.8503A>C (p.Lys2835Gln)
c.7882A>C (p.Lys2628Gln)
c.8602A>C (p.Lys2868Gln)
c.9100A>C (p.Lys3034Gln)
c.6697A>C (p.Lys2233Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.237334752T=CA1337606442COL6A3c.1611-1204A=
c.8485A= (p.Lys2829=)
c.1230A=
c.9103A= (p.Lys3035=)
c.7279A= (p.Lys2427=)
c.7282A= (p.Lys2428=)
n.5545A=
n.35A=
c.8503A= (p.Lys2835=)
c.7882A= (p.Lys2628=)
c.8602A= (p.Lys2868=)
c.9100A= (p.Lys3034=)
c.6697A= (p.Lys2233=)
2g.237334753C>ACA431699075COL6A3c.1611-1205G>T
c.8484G>T (p.Leu2828=)
c.1229G>T
c.9102G>T (p.Leu3034=)
c.7278G>T (p.Leu2426=)
c.7281G>T (p.Leu2427=)
n.5544G>T
n.34G>T
c.8502G>T (p.Leu2834=)
c.7881G>T (p.Leu2627=)
c.8601G>T (p.Leu2867=)
c.9099G>T (p.Leu3033=)
c.6696G>T (p.Leu2232=)
2g.237334753C>GCA431699078COL6A3c.1611-1205G>C
c.8484G>C (p.Leu2828=)
c.1229G>C
c.9102G>C (p.Leu3034=)
c.7278G>C (p.Leu2426=)
c.7281G>C (p.Leu2427=)
n.5544G>C
n.34G>C
c.8502G>C (p.Leu2834=)
c.7881G>C (p.Leu2627=)
c.8601G>C (p.Leu2867=)
c.9099G>C (p.Leu3033=)
c.6696G>C (p.Leu2232=)
2g.237334753C>TCA431699079COL6A3c.1611-1205G>A
c.8484G>A (p.Leu2828=)
c.1229G>A
c.9102G>A (p.Leu3034=)
c.7278G>A (p.Leu2426=)
c.7281G>A (p.Leu2427=)
n.5544G>A
n.34G>A
c.8502G>A (p.Leu2834=)
c.7881G>A (p.Leu2627=)
c.8601G>A (p.Leu2867=)
c.9099G>A (p.Leu3033=)
c.6696G>A (p.Leu2232=)
2g.237334754A>CCA351188543COL6A3c.1611-1206T>G
c.8483T>G (p.Leu2828Arg)
c.1228T>G
c.9101T>G (p.Leu3034Arg)
c.7277T>G (p.Leu2426Arg)
c.7280T>G (p.Leu2427Arg)
n.5543T>G
n.33T>G
c.8501T>G (p.Leu2834Arg)
c.7880T>G (p.Leu2627Arg)
c.8600T>G (p.Leu2867Arg)
c.9098T>G (p.Leu3033Arg)
c.6695T>G (p.Leu2232Arg)
2g.237334754A>GCA351188540COL6A3c.1611-1206T>C
c.8483T>C (p.Leu2828Pro)
c.1228T>C
c.9101T>C (p.Leu3034Pro)
c.7277T>C (p.Leu2426Pro)
c.7280T>C (p.Leu2427Pro)
n.5543T>C
n.33T>C
c.8501T>C (p.Leu2834Pro)
c.7880T>C (p.Leu2627Pro)
c.8600T>C (p.Leu2867Pro)
c.9098T>C (p.Leu3033Pro)
c.6695T>C (p.Leu2232Pro)
2g.237334754A>TCA351188538COL6A3c.1611-1206T>A
c.8483T>A (p.Leu2828Gln)
c.1228T>A
c.9101T>A (p.Leu3034Gln)
c.7277T>A (p.Leu2426Gln)
c.7280T>A (p.Leu2427Gln)
n.5543T>A
n.33T>A
c.8501T>A (p.Leu2834Gln)
c.7880T>A (p.Leu2627Gln)
c.8600T>A (p.Leu2867Gln)
c.9098T>A (p.Leu3033Gln)
c.6695T>A (p.Leu2232Gln)
2g.237334755G>ACA431699095COL6A3c.1611-1207C>T
c.8482C>T (p.Leu2828=)
c.1227C>T
c.9100C>T (p.Leu3034=)
c.7276C>T (p.Leu2426=)
c.7279C>T (p.Leu2427=)
n.5542C>T
n.32C>T
c.8500C>T (p.Leu2834=)
c.7879C>T (p.Leu2627=)
c.8599C>T (p.Leu2867=)
c.9097C>T (p.Leu3033=)
c.6694C>T (p.Leu2232=)
2g.237334755G>CCA351188554COL6A3c.1611-1207C>G
c.8482C>G (p.Leu2828Val)
c.1227C>G
c.9100C>G (p.Leu3034Val)
c.7276C>G (p.Leu2426Val)
c.7279C>G (p.Leu2427Val)
n.5542C>G
n.32C>G
c.8500C>G (p.Leu2834Val)
c.7879C>G (p.Leu2627Val)
c.8599C>G (p.Leu2867Val)
c.9097C>G (p.Leu3033Val)
c.6694C>G (p.Leu2232Val)
2g.237334755G>TCA351188557COL6A3c.1611-1207C>A
c.8482C>A (p.Leu2828Met)
c.1227C>A
c.9100C>A (p.Leu3034Met)
c.7276C>A (p.Leu2426Met)
c.7279C>A (p.Leu2427Met)
n.5542C>A
n.32C>A
c.8500C>A (p.Leu2834Met)
c.7879C>A (p.Leu2627Met)
c.8599C>A (p.Leu2867Met)
c.9097C>A (p.Leu3033Met)
c.6694C>A (p.Leu2232Met)
2g.237334756A>CCA431699100COL6A3c.1611-1208T>G
c.8481T>G (p.Val2827=)
c.1226T>G
c.9099T>G (p.Val3033=)
c.7275T>G (p.Val2425=)
c.7278T>G (p.Val2426=)
n.5541T>G
n.31T>G
c.8499T>G (p.Val2833=)
c.7878T>G (p.Val2626=)
c.8598T>G (p.Val2866=)
c.9096T>G (p.Val3032=)
c.6693T>G (p.Val2231=)
 gnomAD v4
2g.237334756A>GCA431699107COL6A3c.1611-1208T>C
c.8481T>C (p.Val2827=)
c.1226T>C
c.9099T>C (p.Val3033=)
c.7275T>C (p.Val2425=)
c.7278T>C (p.Val2426=)
n.5541T>C
n.31T>C
c.8499T>C (p.Val2833=)
c.7878T>C (p.Val2626=)
c.8598T>C (p.Val2866=)
c.9096T>C (p.Val3032=)
c.6693T>C (p.Val2231=)
 gnomAD v4
2g.237334756A>TCA431699104COL6A3c.1611-1208T>A
c.8481T>A (p.Val2827=)
c.1226T>A
c.9099T>A (p.Val3033=)
c.7275T>A (p.Val2425=)
c.7278T>A (p.Val2426=)
n.5541T>A
n.31T>A
c.8499T>A (p.Val2833=)
c.7878T>A (p.Val2626=)
c.8598T>A (p.Val2866=)
c.9096T>A (p.Val3032=)
c.6693T>A (p.Val2231=)
2g.237334757A>CCA351188572COL6A3c.1611-1209T>G
c.8480T>G (p.Val2827Gly)
c.1225T>G
c.9098T>G (p.Val3033Gly)
c.7274T>G (p.Val2425Gly)
c.7277T>G (p.Val2426Gly)
n.5540T>G
n.30T>G
c.8498T>G (p.Val2833Gly)
c.7877T>G (p.Val2626Gly)
c.8597T>G (p.Val2866Gly)
c.9095T>G (p.Val3032Gly)
c.6692T>G (p.Val2231Gly)
2g.237334757A>GCA351188575COL6A3c.1611-1209T>C
c.8480T>C (p.Val2827Ala)
c.1225T>C
c.9098T>C (p.Val3033Ala)
c.7274T>C (p.Val2425Ala)
c.7277T>C (p.Val2426Ala)
n.5540T>C
n.30T>C
c.8498T>C (p.Val2833Ala)
c.7877T>C (p.Val2626Ala)
c.8597T>C (p.Val2866Ala)
c.9095T>C (p.Val3032Ala)
c.6692T>C (p.Val2231Ala)
2g.237334757A>TCA351188583COL6A3c.1611-1209T>A
c.8480T>A (p.Val2827Asp)
c.1225T>A
c.9098T>A (p.Val3033Asp)
c.7274T>A (p.Val2425Asp)
c.7277T>A (p.Val2426Asp)
n.5540T>A
n.30T>A
c.8498T>A (p.Val2833Asp)
c.7877T>A (p.Val2626Asp)
c.8597T>A (p.Val2866Asp)
c.9095T>A (p.Val3032Asp)
c.6692T>A (p.Val2231Asp)
2g.237334758C>ACA351188589COL6A3c.1611-1210G>T
c.8479G>T (p.Val2827Phe)
c.1224G>T
c.9097G>T (p.Val3033Phe)
c.7273G>T (p.Val2425Phe)
c.7276G>T (p.Val2426Phe)
n.5539G>T
n.29G>T
c.8497G>T (p.Val2833Phe)
c.7876G>T (p.Val2626Phe)
c.8596G>T (p.Val2866Phe)
c.9094G>T (p.Val3032Phe)
c.6691G>T (p.Val2231Phe)
2g.237334758C>GCA351188594COL6A3c.1611-1210G>C
c.8479G>C (p.Val2827Leu)
c.1224G>C
c.9097G>C (p.Val3033Leu)
c.7273G>C (p.Val2425Leu)
c.7276G>C (p.Val2426Leu)
n.5539G>C
n.29G>C
c.8497G>C (p.Val2833Leu)
c.7876G>C (p.Val2626Leu)
c.8596G>C (p.Val2866Leu)
c.9094G>C (p.Val3032Leu)
c.6691G>C (p.Val2231Leu)
2g.237334758C>TCA351188598COL6A3c.1611-1210G>A
c.8479G>A (p.Val2827Ile)
c.1224G>A
c.9097G>A (p.Val3033Ile)
c.7273G>A (p.Val2425Ile)
c.7276G>A (p.Val2426Ile)
n.5539G>A
n.29G>A
c.8497G>A (p.Val2833Ile)
c.7876G>A (p.Val2626Ile)
c.8596G>A (p.Val2866Ile)
c.9094G>A (p.Val3032Ile)
c.6691G>A (p.Val2231Ile)
2g.237334759C>ACA2187361COL6A3c.1611-1211G>T
c.8478G>T (p.Leu2826=)
c.1223G>T
c.9096G>T (p.Leu3032=)
c.7272G>T (p.Leu2424=)
c.7275G>T (p.Leu2425=)
n.5538G>T
n.28G>T
c.8496G>T (p.Leu2832=)
c.7875G>T (p.Leu2625=)
c.8595G>T (p.Leu2865=)
c.9093G>T (p.Leu3031=)
c.6690G>T (p.Leu2230=)
 ClinVar dbSNP ExAC gnomAD v2
2g.237334759C=CA1337606443COL6A3c.1611-1211G=
c.8478G= (p.Leu2826=)
c.1223G=
c.9096G= (p.Leu3032=)
c.7272G= (p.Leu2424=)
c.7275G= (p.Leu2425=)
n.5538G=
n.28G=
c.8496G= (p.Leu2832=)
c.7875G= (p.Leu2625=)
c.8595G= (p.Leu2865=)
c.9093G= (p.Leu3031=)
c.6690G= (p.Leu2230=)
2g.237334759C>GCA10607027COL6A3c.1611-1211G>C
c.8478G>C (p.Leu2826=)
c.1223G>C
c.9096G>C (p.Leu3032=)
c.7272G>C (p.Leu2424=)
c.7275G>C (p.Leu2425=)
n.5538G>C
n.28G>C
c.8496G>C (p.Leu2832=)
c.7875G>C (p.Leu2625=)
c.8595G>C (p.Leu2865=)
c.9093G>C (p.Leu3031=)
c.6690G>C (p.Leu2230=)
 ClinVar dbSNP gnomAD v4
2g.237334759C>TCA431699122COL6A3c.1611-1211G>A
c.8478G>A (p.Leu2826=)
c.1223G>A
c.9096G>A (p.Leu3032=)
c.7272G>A (p.Leu2424=)
c.7275G>A (p.Leu2425=)
n.5538G>A
n.28G>A
c.8496G>A (p.Leu2832=)
c.7875G>A (p.Leu2625=)
c.8595G>A (p.Leu2865=)
c.9093G>A (p.Leu3031=)
c.6690G>A (p.Leu2230=)
 dbSNP gnomAD v2 gnomAD v4
2g.237334760A>CCA351188605COL6A3c.1611-1212T>G
c.8477T>G (p.Leu2826Arg)
c.1222T>G
c.9095T>G (p.Leu3032Arg)
c.7271T>G (p.Leu2424Arg)
c.7274T>G (p.Leu2425Arg)
n.5537T>G
n.27T>G
c.8495T>G (p.Leu2832Arg)
c.7874T>G (p.Leu2625Arg)
c.8594T>G (p.Leu2865Arg)
c.9092T>G (p.Leu3031Arg)
c.6689T>G (p.Leu2230Arg)
2g.237334760A>GCA351188606COL6A3c.1611-1212T>C
c.8477T>C (p.Leu2826Pro)
c.1222T>C
c.9095T>C (p.Leu3032Pro)
c.7271T>C (p.Leu2424Pro)
c.7274T>C (p.Leu2425Pro)
n.5537T>C
n.27T>C
c.8495T>C (p.Leu2832Pro)
c.7874T>C (p.Leu2625Pro)
c.8594T>C (p.Leu2865Pro)
c.9092T>C (p.Leu3031Pro)
c.6689T>C (p.Leu2230Pro)
2g.237334760A>TCA351188607COL6A3c.1611-1212T>A
c.8477T>A (p.Leu2826Gln)
c.1222T>A
c.9095T>A (p.Leu3032Gln)
c.7271T>A (p.Leu2424Gln)
c.7274T>A (p.Leu2425Gln)
n.5537T>A
n.27T>A
c.8495T>A (p.Leu2832Gln)
c.7874T>A (p.Leu2625Gln)
c.8594T>A (p.Leu2865Gln)
c.9092T>A (p.Leu3031Gln)
c.6689T>A (p.Leu2230Gln)
2g.237334761G>ACA431699126COL6A3c.1611-1213C>T
c.8476C>T (p.Leu2826=)
c.1221C>T
c.9094C>T (p.Leu3032=)
c.7270C>T (p.Leu2424=)
c.7273C>T (p.Leu2425=)
n.5536C>T
n.26C>T
c.8494C>T (p.Leu2832=)
c.7873C>T (p.Leu2625=)
c.8593C>T (p.Leu2865=)
c.9091C>T (p.Leu3031=)
c.6688C>T (p.Leu2230=)
2g.237334761G>CCA351188608COL6A3c.1611-1213C>G
c.8476C>G (p.Leu2826Val)
c.1221C>G
c.9094C>G (p.Leu3032Val)
c.7270C>G (p.Leu2424Val)
c.7273C>G (p.Leu2425Val)
n.5536C>G
n.26C>G
c.8494C>G (p.Leu2832Val)
c.7873C>G (p.Leu2625Val)
c.8593C>G (p.Leu2865Val)
c.9091C>G (p.Leu3031Val)
c.6688C>G (p.Leu2230Val)
2g.237334761G>TCA351188609COL6A3c.1611-1213C>A
c.8476C>A (p.Leu2826Met)
c.1221C>A
c.9094C>A (p.Leu3032Met)
c.7270C>A (p.Leu2424Met)
c.7273C>A (p.Leu2425Met)
n.5536C>A
n.26C>A
c.8494C>A (p.Leu2832Met)
c.7873C>A (p.Leu2625Met)
c.8593C>A (p.Leu2865Met)
c.9091C>A (p.Leu3031Met)
c.6688C>A (p.Leu2230Met)
2g.237334762G>ACA2187362COL6A3c.1611-1214C>T
c.8475C>T (p.Ser2825=)
c.1220C>T
c.9093C>T (p.Ser3031=)
c.7269C>T (p.Ser2423=)
c.7272C>T (p.Ser2424=)
n.5535C>T
n.25C>T
c.8493C>T (p.Ser2831=)
c.7872C>T (p.Ser2624=)
c.8592C>T (p.Ser2864=)
c.9090C>T (p.Ser3030=)
c.6687C>T (p.Ser2229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334762G>CCA431699127COL6A3c.1611-1214C>G
c.8475C>G (p.Ser2825=)
c.1220C>G
c.9093C>G (p.Ser3031=)
c.7269C>G (p.Ser2423=)
c.7272C>G (p.Ser2424=)
n.5535C>G
n.25C>G
c.8493C>G (p.Ser2831=)
c.7872C>G (p.Ser2624=)
c.8592C>G (p.Ser2864=)
c.9090C>G (p.Ser3030=)
c.6687C>G (p.Ser2229=)
2g.237334762G=CA1337606444COL6A3c.1611-1214C=
c.8475C= (p.Ser2825=)
c.1220C=
c.9093C= (p.Ser3031=)
c.7269C= (p.Ser2423=)
c.7272C= (p.Ser2424=)
n.5535C=
n.25C=
c.8493C= (p.Ser2831=)
c.7872C= (p.Ser2624=)
c.8592C= (p.Ser2864=)
c.9090C= (p.Ser3030=)
c.6687C= (p.Ser2229=)
2g.237334762G>TCA431699128COL6A3c.1611-1214C>A
c.8475C>A (p.Ser2825=)
c.1220C>A
c.9093C>A (p.Ser3031=)
c.7269C>A (p.Ser2423=)
c.7272C>A (p.Ser2424=)
n.5535C>A
n.25C>A
c.8493C>A (p.Ser2831=)
c.7872C>A (p.Ser2624=)
c.8592C>A (p.Ser2864=)
c.9090C>A (p.Ser3030=)
c.6687C>A (p.Ser2229=)
2g.237334763G>ACA351188611COL6A3c.1611-1215C>T
c.8474C>T (p.Ser2825Phe)
c.1219C>T
c.9092C>T (p.Ser3031Phe)
c.7268C>T (p.Ser2423Phe)
c.7271C>T (p.Ser2424Phe)
n.5534C>T
n.24C>T
c.8492C>T (p.Ser2831Phe)
c.7871C>T (p.Ser2624Phe)
c.8591C>T (p.Ser2864Phe)
c.9089C>T (p.Ser3030Phe)
c.6686C>T (p.Ser2229Phe)
2g.237334763G>CCA351188613COL6A3c.1611-1215C>G
c.8474C>G (p.Ser2825Cys)
c.1219C>G
c.9092C>G (p.Ser3031Cys)
c.7268C>G (p.Ser2423Cys)
c.7271C>G (p.Ser2424Cys)
n.5534C>G
n.24C>G
c.8492C>G (p.Ser2831Cys)
c.7871C>G (p.Ser2624Cys)
c.8591C>G (p.Ser2864Cys)
c.9089C>G (p.Ser3030Cys)
c.6686C>G (p.Ser2229Cys)
2g.237334763G>TCA351188615COL6A3c.1611-1215C>A
c.8474C>A (p.Ser2825Tyr)
c.1219C>A
c.9092C>A (p.Ser3031Tyr)
c.7268C>A (p.Ser2423Tyr)
c.7271C>A (p.Ser2424Tyr)
n.5534C>A
n.24C>A
c.8492C>A (p.Ser2831Tyr)
c.7871C>A (p.Ser2624Tyr)
c.8591C>A (p.Ser2864Tyr)
c.9089C>A (p.Ser3030Tyr)
c.6686C>A (p.Ser2229Tyr)
2g.237334764A>CCA351188617COL6A3c.1611-1216T>G
c.8473T>G (p.Ser2825Ala)
c.1218T>G
c.9091T>G (p.Ser3031Ala)
c.7267T>G (p.Ser2423Ala)
c.7270T>G (p.Ser2424Ala)
n.5533T>G
n.23T>G
c.8491T>G (p.Ser2831Ala)
c.7870T>G (p.Ser2624Ala)
c.8590T>G (p.Ser2864Ala)
c.9088T>G (p.Ser3030Ala)
c.6685T>G (p.Ser2229Ala)
2g.237334764A>GCA351188618COL6A3c.1611-1216T>C
c.8473T>C (p.Ser2825Pro)
c.1218T>C
c.9091T>C (p.Ser3031Pro)
c.7267T>C (p.Ser2423Pro)
c.7270T>C (p.Ser2424Pro)
n.5533T>C
n.23T>C
c.8491T>C (p.Ser2831Pro)
c.7870T>C (p.Ser2624Pro)
c.8590T>C (p.Ser2864Pro)
c.9088T>C (p.Ser3030Pro)
c.6685T>C (p.Ser2229Pro)
2g.237334764A>TCA351188621COL6A3c.1611-1216T>A
c.8473T>A (p.Ser2825Thr)
c.1218T>A
c.9091T>A (p.Ser3031Thr)
c.7267T>A (p.Ser2423Thr)
c.7270T>A (p.Ser2424Thr)
n.5533T>A
n.23T>A
c.8491T>A (p.Ser2831Thr)
c.7870T>A (p.Ser2624Thr)
c.8590T>A (p.Ser2864Thr)
c.9088T>A (p.Ser3030Thr)
c.6685T>A (p.Ser2229Thr)
2g.237334765C>ACA351188625COL6A3c.1611-1217G>T
c.8472G>T (p.Gln2824His)
c.1217G>T
c.9090G>T (p.Gln3030His)
c.7266G>T (p.Gln2422His)
c.7269G>T (p.Gln2423His)
n.5532G>T
n.22G>T
c.8490G>T (p.Gln2830His)
c.7869G>T (p.Gln2623His)
c.8589G>T (p.Gln2863His)
c.9087G>T (p.Gln3029His)
c.6684G>T (p.Gln2228His)
2g.237334765C=CA1337606445COL6A3c.1611-1217G=
c.8472G= (p.Gln2824=)
c.1217G=
c.9090G= (p.Gln3030=)
c.7266G= (p.Gln2422=)
c.7269G= (p.Gln2423=)
n.5532G=
n.22G=
c.8490G= (p.Gln2830=)
c.7869G= (p.Gln2623=)
c.8589G= (p.Gln2863=)
c.9087G= (p.Gln3029=)
c.6684G= (p.Gln2228=)
2g.237334765C>GCA2187363COL6A3c.1611-1217G>C
c.8472G>C (p.Gln2824His)
c.1217G>C
c.9090G>C (p.Gln3030His)
c.7266G>C (p.Gln2422His)
c.7269G>C (p.Gln2423His)
n.5532G>C
n.22G>C
c.8490G>C (p.Gln2830His)
c.7869G>C (p.Gln2623His)
c.8589G>C (p.Gln2863His)
c.9087G>C (p.Gln3029His)
c.6684G>C (p.Gln2228His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334765C>TCA431699129COL6A3c.1611-1217G>A
c.8472G>A (p.Gln2824=)
c.1217G>A
c.9090G>A (p.Gln3030=)
c.7266G>A (p.Gln2422=)
c.7269G>A (p.Gln2423=)
n.5532G>A
n.22G>A
c.8490G>A (p.Gln2830=)
c.7869G>A (p.Gln2623=)
c.8589G>A (p.Gln2863=)
c.9087G>A (p.Gln3029=)
c.6684G>A (p.Gln2228=)
2g.237334766T>ACA351188632COL6A3c.1611-1218A>T
c.8471A>T (p.Gln2824Leu)
c.1216A>T
c.9089A>T (p.Gln3030Leu)
c.7265A>T (p.Gln2422Leu)
c.7268A>T (p.Gln2423Leu)
n.5531A>T
n.21A>T
c.8489A>T (p.Gln2830Leu)
c.7868A>T (p.Gln2623Leu)
c.8588A>T (p.Gln2863Leu)
c.9086A>T (p.Gln3029Leu)
c.6683A>T (p.Gln2228Leu)
2g.237334766T>CCA351188636COL6A3c.1611-1218A>G
c.8471A>G (p.Gln2824Arg)
c.1216A>G
c.9089A>G (p.Gln3030Arg)
c.7265A>G (p.Gln2422Arg)
c.7268A>G (p.Gln2423Arg)
n.5531A>G
n.21A>G
c.8489A>G (p.Gln2830Arg)
c.7868A>G (p.Gln2623Arg)
c.8588A>G (p.Gln2863Arg)
c.9086A>G (p.Gln3029Arg)
c.6683A>G (p.Gln2228Arg)
2g.237334766T>GCA351188644COL6A3c.1611-1218A>C
c.8471A>C (p.Gln2824Pro)
c.1216A>C
c.9089A>C (p.Gln3030Pro)
c.7265A>C (p.Gln2422Pro)
c.7268A>C (p.Gln2423Pro)
n.5531A>C
n.21A>C
c.8489A>C (p.Gln2830Pro)
c.7868A>C (p.Gln2623Pro)
c.8588A>C (p.Gln2863Pro)
c.9086A>C (p.Gln3029Pro)
c.6683A>C (p.Gln2228Pro)
2g.237334767G>ACA351188648COL6A3c.1611-1219C>T
c.8470C>T (p.Gln2824Ter)
c.1215C>T
c.9088C>T (p.Gln3030Ter)
c.7264C>T (p.Gln2422Ter)
c.7267C>T (p.Gln2423Ter)
n.5530C>T
n.20C>T
c.8488C>T (p.Gln2830Ter)
c.7867C>T (p.Gln2623Ter)
c.8587C>T (p.Gln2863Ter)
c.9085C>T (p.Gln3029Ter)
c.6682C>T (p.Gln2228Ter)
2g.237334767G>CCA351188650COL6A3c.1611-1219C>G
c.8470C>G (p.Gln2824Glu)
c.1215C>G
c.9088C>G (p.Gln3030Glu)
c.7264C>G (p.Gln2422Glu)
c.7267C>G (p.Gln2423Glu)
n.5530C>G
n.20C>G
c.8488C>G (p.Gln2830Glu)
c.7867C>G (p.Gln2623Glu)
c.8587C>G (p.Gln2863Glu)
c.9085C>G (p.Gln3029Glu)
c.6682C>G (p.Gln2228Glu)
2g.237334767G>TCA351188646COL6A3c.1611-1219C>A
c.8470C>A (p.Gln2824Lys)
c.1215C>A
c.9088C>A (p.Gln3030Lys)
c.7264C>A (p.Gln2422Lys)
c.7267C>A (p.Gln2423Lys)
n.5530C>A
n.20C>A
c.8488C>A (p.Gln2830Lys)
c.7867C>A (p.Gln2623Lys)
c.8587C>A (p.Gln2863Lys)
c.9085C>A (p.Gln3029Lys)
c.6682C>A (p.Gln2228Lys)
2g.237334768A=CA1337606446COL6A3c.1611-1220T=
c.8469T= (p.Asp2823=)
c.1214T=
c.9087T= (p.Asp3029=)
c.7263T= (p.Asp2421=)
c.7266T= (p.Asp2422=)
n.5529T=
n.19T=
c.8487T= (p.Asp2829=)
c.7866T= (p.Asp2622=)
c.8586T= (p.Asp2862=)
c.9084T= (p.Asp3028=)
c.6681T= (p.Asp2227=)
2g.237334768A>CCA351188653COL6A3c.1611-1220T>G
c.8469T>G (p.Asp2823Glu)
c.1214T>G
c.9087T>G (p.Asp3029Glu)
c.7263T>G (p.Asp2421Glu)
c.7266T>G (p.Asp2422Glu)
n.5529T>G
n.19T>G
c.8487T>G (p.Asp2829Glu)
c.7866T>G (p.Asp2622Glu)
c.8586T>G (p.Asp2862Glu)
c.9084T>G (p.Asp3028Glu)
c.6681T>G (p.Asp2227Glu)
2g.237334768A>GCA431699130COL6A3c.1611-1220T>C
c.8469T>C (p.Asp2823=)
c.1214T>C
c.9087T>C (p.Asp3029=)
c.7263T>C (p.Asp2421=)
c.7266T>C (p.Asp2422=)
n.5529T>C
n.19T>C
c.8487T>C (p.Asp2829=)
c.7866T>C (p.Asp2622=)
c.8586T>C (p.Asp2862=)
c.9084T>C (p.Asp3028=)
c.6681T>C (p.Asp2227=)
2g.237334768A>TCA351188652COL6A3c.1611-1220T>A
c.8469T>A (p.Asp2823Glu)
c.1214T>A
c.9087T>A (p.Asp3029Glu)
c.7263T>A (p.Asp2421Glu)
c.7266T>A (p.Asp2422Glu)
n.5529T>A
n.19T>A
c.8487T>A (p.Asp2829Glu)
c.7866T>A (p.Asp2622Glu)
c.8586T>A (p.Asp2862Glu)
c.9084T>A (p.Asp3028Glu)
c.6681T>A (p.Asp2227Glu)
 ClinVar dbSNP
2g.237334769T>ACA351188656COL6A3c.1611-1221A>T
c.8468A>T (p.Asp2823Val)
c.1213A>T
c.9086A>T (p.Asp3029Val)
c.7262A>T (p.Asp2421Val)
c.7265A>T (p.Asp2422Val)
n.5528A>T
n.18A>T
c.8486A>T (p.Asp2829Val)
c.7865A>T (p.Asp2622Val)
c.8585A>T (p.Asp2862Val)
c.9083A>T (p.Asp3028Val)
c.6680A>T (p.Asp2227Val)
2g.237334769T>CCA351188660COL6A3c.1611-1221A>G
c.8468A>G (p.Asp2823Gly)
c.1213A>G
c.9086A>G (p.Asp3029Gly)
c.7262A>G (p.Asp2421Gly)
c.7265A>G (p.Asp2422Gly)
n.5528A>G
n.18A>G
c.8486A>G (p.Asp2829Gly)
c.7865A>G (p.Asp2622Gly)
c.8585A>G (p.Asp2862Gly)
c.9083A>G (p.Asp3028Gly)
c.6680A>G (p.Asp2227Gly)
2g.237334769T>GCA67829473COL6A3c.1611-1221A>C
c.8468A>C (p.Asp2823Ala)
c.1213A>C
c.9086A>C (p.Asp3029Ala)
c.7262A>C (p.Asp2421Ala)
c.7265A>C (p.Asp2422Ala)
n.5528A>C
n.18A>C
c.8486A>C (p.Asp2829Ala)
c.7865A>C (p.Asp2622Ala)
c.8585A>C (p.Asp2862Ala)
c.9083A>C (p.Asp3028Ala)
c.6680A>C (p.Asp2227Ala)
 dbSNP
2g.237334769T=CA1337606447COL6A3c.1611-1221A=
c.8468A= (p.Asp2823=)
c.1213A=
c.9086A= (p.Asp3029=)
c.7262A= (p.Asp2421=)
c.7265A= (p.Asp2422=)
n.5528A=
n.18A=
c.8486A= (p.Asp2829=)
c.7865A= (p.Asp2622=)
c.8585A= (p.Asp2862=)
c.9083A= (p.Asp3028=)
c.6680A= (p.Asp2227=)
2g.237334770C>ACA351188664COL6A3c.1611-1222G>T
c.8467G>T (p.Asp2823Tyr)
c.1212G>T
c.9085G>T (p.Asp3029Tyr)
c.7261G>T (p.Asp2421Tyr)
c.7264G>T (p.Asp2422Tyr)
n.5527G>T
n.17G>T
c.8485G>T (p.Asp2829Tyr)
c.7864G>T (p.Asp2622Tyr)
c.8584G>T (p.Asp2862Tyr)
c.9082G>T (p.Asp3028Tyr)
c.6679G>T (p.Asp2227Tyr)
2g.237334770C>GCA351188666COL6A3c.1611-1222G>C
c.8467G>C (p.Asp2823His)
c.1212G>C
c.9085G>C (p.Asp3029His)
c.7261G>C (p.Asp2421His)
c.7264G>C (p.Asp2422His)
n.5527G>C
n.17G>C
c.8485G>C (p.Asp2829His)
c.7864G>C (p.Asp2622His)
c.8584G>C (p.Asp2862His)
c.9082G>C (p.Asp3028His)
c.6679G>C (p.Asp2227His)
2g.237334770C>TCA351188669COL6A3c.1611-1222G>A
c.8467G>A (p.Asp2823Asn)
c.1212G>A
c.9085G>A (p.Asp3029Asn)
c.7261G>A (p.Asp2421Asn)
c.7264G>A (p.Asp2422Asn)
n.5527G>A
n.17G>A
c.8485G>A (p.Asp2829Asn)
c.7864G>A (p.Asp2622Asn)
c.8584G>A (p.Asp2862Asn)
c.9082G>A (p.Asp3028Asn)
c.6679G>A (p.Asp2227Asn)
2g.237334771A=CA1337606448COL6A3c.1611-1223T=
c.8466T= (p.His2822=)
c.1211T=
c.9084T= (p.His3028=)
c.7260T= (p.His2420=)
c.7263T= (p.His2421=)
n.5526T=
n.16T=
c.8484T= (p.His2828=)
c.7863T= (p.His2621=)
c.8583T= (p.His2861=)
c.9081T= (p.His3027=)
c.6678T= (p.His2226=)
2g.237334771A>CCA351188670COL6A3c.1611-1223T>G
c.8466T>G (p.His2822Gln)
c.1211T>G
c.9084T>G (p.His3028Gln)
c.7260T>G (p.His2420Gln)
c.7263T>G (p.His2421Gln)
n.5526T>G
n.16T>G
c.8484T>G (p.His2828Gln)
c.7863T>G (p.His2621Gln)
c.8583T>G (p.His2861Gln)
c.9081T>G (p.His3027Gln)
c.6678T>G (p.His2226Gln)
2g.237334771A>GCA431699131COL6A3c.1611-1223T>C
c.8466T>C (p.His2822=)
c.1211T>C
c.9084T>C (p.His3028=)
c.7260T>C (p.His2420=)
c.7263T>C (p.His2421=)
n.5526T>C
n.16T>C
c.8484T>C (p.His2828=)
c.7863T>C (p.His2621=)
c.8583T>C (p.His2861=)
c.9081T>C (p.His3027=)
c.6678T>C (p.His2226=)
 dbSNP gnomAD v4
2g.237334771A>TCA351188671COL6A3c.1611-1223T>A
c.8466T>A (p.His2822Gln)
c.1211T>A
c.9084T>A (p.His3028Gln)
c.7260T>A (p.His2420Gln)
c.7263T>A (p.His2421Gln)
n.5526T>A
n.16T>A
c.8484T>A (p.His2828Gln)
c.7863T>A (p.His2621Gln)
c.8583T>A (p.His2861Gln)
c.9081T>A (p.His3027Gln)
c.6678T>A (p.His2226Gln)
2g.237334772delCA2663791985COL6A3c.1611-1224del
c.8465del (p.His2822LeufsTer7)
c.1210del
c.9083del (p.His3028LeufsTer7)
c.7259del (p.His2420LeufsTer7)
c.7262del (p.His2421LeufsTer7)
n.5525del
n.15del
c.8483del (p.His2828LeufsTer7)
c.7862del (p.His2621LeufsTer7)
c.8582del (p.His2861LeufsTer7)
c.9080del (p.His3027LeufsTer7)
c.6677del (p.His2226LeufsTer7)
 gnomAD v4
2g.237334772T>ACA351188672COL6A3c.1611-1224A>T
c.8465A>T (p.His2822Leu)
c.1210A>T
c.9083A>T (p.His3028Leu)
c.7259A>T (p.His2420Leu)
c.7262A>T (p.His2421Leu)
n.5525A>T
n.15A>T
c.8483A>T (p.His2828Leu)
c.7862A>T (p.His2621Leu)
c.8582A>T (p.His2861Leu)
c.9080A>T (p.His3027Leu)
c.6677A>T (p.His2226Leu)
2g.237334772T>CCA351188675COL6A3c.1611-1224A>G
c.8465A>G (p.His2822Arg)
c.1210A>G
c.9083A>G (p.His3028Arg)
c.7259A>G (p.His2420Arg)
c.7262A>G (p.His2421Arg)
n.5525A>G
n.15A>G
c.8483A>G (p.His2828Arg)
c.7862A>G (p.His2621Arg)
c.8582A>G (p.His2861Arg)
c.9080A>G (p.His3027Arg)
c.6677A>G (p.His2226Arg)
 ClinVar
2g.237334772T>GCA351188676COL6A3c.1611-1224A>C
c.8465A>C (p.His2822Pro)
c.1210A>C
c.9083A>C (p.His3028Pro)
c.7259A>C (p.His2420Pro)
c.7262A>C (p.His2421Pro)
n.5525A>C
n.15A>C
c.8483A>C (p.His2828Pro)
c.7862A>C (p.His2621Pro)
c.8582A>C (p.His2861Pro)
c.9080A>C (p.His3027Pro)
c.6677A>C (p.His2226Pro)
 ClinVar
2g.237334773G>ACA2187364COL6A3c.1611-1225C>T
c.8464C>T (p.His2822Tyr)
c.1209C>T
c.9082C>T (p.His3028Tyr)
c.7258C>T (p.His2420Tyr)
c.7261C>T (p.His2421Tyr)
n.5524C>T
n.14C>T
c.8482C>T (p.His2828Tyr)
c.7861C>T (p.His2621Tyr)
c.8581C>T (p.His2861Tyr)
c.9079C>T (p.His3027Tyr)
c.6676C>T (p.His2226Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334773G>CCA351188686COL6A3c.1611-1225C>G
c.8464C>G (p.His2822Asp)
c.1209C>G
c.9082C>G (p.His3028Asp)
c.7258C>G (p.His2420Asp)
c.7261C>G (p.His2421Asp)
n.5524C>G
n.14C>G
c.8482C>G (p.His2828Asp)
c.7861C>G (p.His2621Asp)
c.8581C>G (p.His2861Asp)
c.9079C>G (p.His3027Asp)
c.6676C>G (p.His2226Asp)
2g.237334773G=CA1337606449COL6A3c.1611-1225C=
c.8464C= (p.His2822=)
c.1209C=
c.9082C= (p.His3028=)
c.7258C= (p.His2420=)
c.7261C= (p.His2421=)
n.5524C=
n.14C=
c.8482C= (p.His2828=)
c.7861C= (p.His2621=)
c.8581C= (p.His2861=)
c.9079C= (p.His3027=)
c.6676C= (p.His2226=)
2g.237334773G>TCA351188682COL6A3c.1611-1225C>A
c.8464C>A (p.His2822Asn)
c.1209C>A
c.9082C>A (p.His3028Asn)
c.7258C>A (p.His2420Asn)
c.7261C>A (p.His2421Asn)
n.5524C>A
n.14C>A
c.8482C>A (p.His2828Asn)
c.7861C>A (p.His2621Asn)
c.8581C>A (p.His2861Asn)
c.9079C>A (p.His3027Asn)
c.6676C>A (p.His2226Asn)
2g.237334774G>ACA431699132COL6A3c.1611-1226C>T
c.8463C>T (p.Ala2821=)
c.1208C>T
c.9081C>T (p.Ala3027=)
c.7257C>T (p.Ala2419=)
c.7260C>T (p.Ala2420=)
n.5523C>T
n.13C>T
c.8481C>T (p.Ala2827=)
c.7860C>T (p.Ala2620=)
c.8580C>T (p.Ala2860=)
c.9078C>T (p.Ala3026=)
c.6675C>T (p.Ala2225=)
 COSMIC
2g.237334774G>CCA431699133COL6A3c.1611-1226C>G
c.8463C>G (p.Ala2821=)
c.1208C>G
c.9081C>G (p.Ala3027=)
c.7257C>G (p.Ala2419=)
c.7260C>G (p.Ala2420=)
n.5523C>G
n.13C>G
c.8481C>G (p.Ala2827=)
c.7860C>G (p.Ala2620=)
c.8580C>G (p.Ala2860=)
c.9078C>G (p.Ala3026=)
c.6675C>G (p.Ala2225=)
2g.237334774G>TCA431699134COL6A3c.1611-1226C>A
c.8463C>A (p.Ala2821=)
c.1208C>A
c.9081C>A (p.Ala3027=)
c.7257C>A (p.Ala2419=)
c.7260C>A (p.Ala2420=)
n.5523C>A
n.13C>A
c.8481C>A (p.Ala2827=)
c.7860C>A (p.Ala2620=)
c.8580C>A (p.Ala2860=)
c.9078C>A (p.Ala3026=)
c.6675C>A (p.Ala2225=)
2g.237334775G>ACA351188688COL6A3c.1611-1227C>T
c.8462C>T (p.Ala2821Val)
c.1207C>T
c.9080C>T (p.Ala3027Val)
c.7256C>T (p.Ala2419Val)
c.7259C>T (p.Ala2420Val)
n.5522C>T
n.12C>T
c.8480C>T (p.Ala2827Val)
c.7859C>T (p.Ala2620Val)
c.8579C>T (p.Ala2860Val)
c.9077C>T (p.Ala3026Val)
c.6674C>T (p.Ala2225Val)
 ClinVar dbSNP
2g.237334775G>CCA351188694COL6A3c.1611-1227C>G
c.8462C>G (p.Ala2821Gly)
c.1207C>G
c.9080C>G (p.Ala3027Gly)
c.7256C>G (p.Ala2419Gly)
c.7259C>G (p.Ala2420Gly)
n.5522C>G
n.12C>G
c.8480C>G (p.Ala2827Gly)
c.7859C>G (p.Ala2620Gly)
c.8579C>G (p.Ala2860Gly)
c.9077C>G (p.Ala3026Gly)
c.6674C>G (p.Ala2225Gly)
2g.237334775G=CA1337606450COL6A3c.1611-1227C=
c.8462C= (p.Ala2821=)
c.1207C=
c.9080C= (p.Ala3027=)
c.7256C= (p.Ala2419=)
c.7259C= (p.Ala2420=)
n.5522C=
n.12C=
c.8480C= (p.Ala2827=)
c.7859C= (p.Ala2620=)
c.8579C= (p.Ala2860=)
c.9077C= (p.Ala3026=)
c.6674C= (p.Ala2225=)
2g.237334775G>TCA351188697COL6A3c.1611-1227C>A
c.8462C>A (p.Ala2821Asp)
c.1207C>A
c.9080C>A (p.Ala3027Asp)
c.7256C>A (p.Ala2419Asp)
c.7259C>A (p.Ala2420Asp)
n.5522C>A
n.12C>A
c.8480C>A (p.Ala2827Asp)
c.7859C>A (p.Ala2620Asp)
c.8579C>A (p.Ala2860Asp)
c.9077C>A (p.Ala3026Asp)
c.6674C>A (p.Ala2225Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.237334776C>ACA351188699COL6A3c.1611-1228G>T
c.8461G>T (p.Ala2821Ser)
c.1206G>T
c.9079G>T (p.Ala3027Ser)
c.7255G>T (p.Ala2419Ser)
c.7258G>T (p.Ala2420Ser)
n.5521G>T
n.11G>T
c.8479G>T (p.Ala2827Ser)
c.7858G>T (p.Ala2620Ser)
c.8578G>T (p.Ala2860Ser)
c.9076G>T (p.Ala3026Ser)
c.6673G>T (p.Ala2225Ser)
2g.237334776C>GCA351188700COL6A3c.1611-1228G>C
c.8461G>C (p.Ala2821Pro)
c.1206G>C
c.9079G>C (p.Ala3027Pro)
c.7255G>C (p.Ala2419Pro)
c.7258G>C (p.Ala2420Pro)
n.5521G>C
n.11G>C
c.8479G>C (p.Ala2827Pro)
c.7858G>C (p.Ala2620Pro)
c.8578G>C (p.Ala2860Pro)
c.9076G>C (p.Ala3026Pro)
c.6673G>C (p.Ala2225Pro)
2g.237334776C>TCA351188701COL6A3c.1611-1228G>A
c.8461G>A (p.Ala2821Thr)
c.1206G>A
c.9079G>A (p.Ala3027Thr)
c.7255G>A (p.Ala2419Thr)
c.7258G>A (p.Ala2420Thr)
n.5521G>A
n.11G>A
c.8479G>A (p.Ala2827Thr)
c.7858G>A (p.Ala2620Thr)
c.8578G>A (p.Ala2860Thr)
c.9076G>A (p.Ala3026Thr)
c.6673G>A (p.Ala2225Thr)
2g.237334777T>ACA431699135COL6A3c.1611-1229A>T
c.8460A>T (p.Ser2820=)
c.1205A>T
c.9078A>T (p.Ser3026=)
c.7254A>T (p.Ser2418=)
c.7257A>T (p.Ser2419=)
n.5520A>T
n.10A>T
c.8478A>T (p.Ser2826=)
c.7857A>T (p.Ser2619=)
c.8577A>T (p.Ser2859=)
c.9075A>T (p.Ser3025=)
c.6672A>T (p.Ser2224=)
2g.237334777T>CCA431699136COL6A3c.1611-1229A>G
c.8460A>G (p.Ser2820=)
c.1205A>G
c.9078A>G (p.Ser3026=)
c.7254A>G (p.Ser2418=)
c.7257A>G (p.Ser2419=)
n.5520A>G
n.10A>G
c.8478A>G (p.Ser2826=)
c.7857A>G (p.Ser2619=)
c.8577A>G (p.Ser2859=)
c.9075A>G (p.Ser3025=)
c.6672A>G (p.Ser2224=)
2g.237334777T>GCA431699137COL6A3c.1611-1229A>C
c.8460A>C (p.Ser2820=)
c.1205A>C
c.9078A>C (p.Ser3026=)
c.7254A>C (p.Ser2418=)
c.7257A>C (p.Ser2419=)
n.5520A>C
n.10A>C
c.8478A>C (p.Ser2826=)
c.7857A>C (p.Ser2619=)
c.8577A>C (p.Ser2859=)
c.9075A>C (p.Ser3025=)
c.6672A>C (p.Ser2224=)
2g.237334778G>ACA351188702COL6A3c.1611-1230C>T
c.8459C>T (p.Ser2820Leu)
c.1204C>T
c.9077C>T (p.Ser3026Leu)
c.7253C>T (p.Ser2418Leu)
c.7256C>T (p.Ser2419Leu)
n.5519C>T
n.9C>T
c.8477C>T (p.Ser2826Leu)
c.7856C>T (p.Ser2619Leu)
c.8576C>T (p.Ser2859Leu)
c.9074C>T (p.Ser3025Leu)
c.6671C>T (p.Ser2224Leu)
2g.237334778G>CCA67829475COL6A3c.1611-1230C>G
c.8459C>G (p.Ser2820Ter)
c.1204C>G
c.9077C>G (p.Ser3026Ter)
c.7253C>G (p.Ser2418Ter)
c.7256C>G (p.Ser2419Ter)
n.5519C>G
n.9C>G
c.8477C>G (p.Ser2826Ter)
c.7856C>G (p.Ser2619Ter)
c.8576C>G (p.Ser2859Ter)
c.9074C>G (p.Ser3025Ter)
c.6671C>G (p.Ser2224Ter)
 dbSNP
2g.237334778G=CA1337606451COL6A3c.1611-1230C=
c.8459C= (p.Ser2820=)
c.1204C=
c.9077C= (p.Ser3026=)
c.7253C= (p.Ser2418=)
c.7256C= (p.Ser2419=)
n.5519C=
n.9C=
c.8477C= (p.Ser2826=)
c.7856C= (p.Ser2619=)
c.8576C= (p.Ser2859=)
c.9074C= (p.Ser3025=)
c.6671C= (p.Ser2224=)
2g.237334778G>TCA351188704COL6A3c.1611-1230C>A
c.8459C>A (p.Ser2820Ter)
c.1204C>A
c.9077C>A (p.Ser3026Ter)
c.7253C>A (p.Ser2418Ter)
c.7256C>A (p.Ser2419Ter)
n.5519C>A
n.9C>A
c.8477C>A (p.Ser2826Ter)
c.7856C>A (p.Ser2619Ter)
c.8576C>A (p.Ser2859Ter)
c.9074C>A (p.Ser3025Ter)
c.6671C>A (p.Ser2224Ter)
2g.237334779A=CA1337606452COL6A3c.1611-1231T=
c.8458T= (p.Ser2820=)
c.1203T=
c.9076T= (p.Ser3026=)
c.7252T= (p.Ser2418=)
c.7255T= (p.Ser2419=)
n.5518T=
n.8T=
c.8476T= (p.Ser2826=)
c.7855T= (p.Ser2619=)
c.8575T= (p.Ser2859=)
c.9073T= (p.Ser3025=)
c.6670T= (p.Ser2224=)
2g.237334779A>CCA351188711COL6A3c.1611-1231T>G
c.8458T>G (p.Ser2820Ala)
c.1203T>G
c.9076T>G (p.Ser3026Ala)
c.7252T>G (p.Ser2418Ala)
c.7255T>G (p.Ser2419Ala)
n.5518T>G
n.8T>G
c.8476T>G (p.Ser2826Ala)
c.7855T>G (p.Ser2619Ala)
c.8575T>G (p.Ser2859Ala)
c.9073T>G (p.Ser3025Ala)
c.6670T>G (p.Ser2224Ala)
2g.237334779A>GCA351188712COL6A3c.1611-1231T>C
c.8458T>C (p.Ser2820Pro)
c.1203T>C
c.9076T>C (p.Ser3026Pro)
c.7252T>C (p.Ser2418Pro)
c.7255T>C (p.Ser2419Pro)
n.5518T>C
n.8T>C
c.8476T>C (p.Ser2826Pro)
c.7855T>C (p.Ser2619Pro)
c.8575T>C (p.Ser2859Pro)
c.9073T>C (p.Ser3025Pro)
c.6670T>C (p.Ser2224Pro)
 ClinVar dbSNP
2g.237334779A>TCA351188716COL6A3c.1611-1231T>A
c.8458T>A (p.Ser2820Thr)
c.1203T>A
c.9076T>A (p.Ser3026Thr)
c.7252T>A (p.Ser2418Thr)
c.7255T>A (p.Ser2419Thr)
n.5518T>A
n.8T>A
c.8476T>A (p.Ser2826Thr)
c.7855T>A (p.Ser2619Thr)
c.8575T>A (p.Ser2859Thr)
c.9073T>A (p.Ser3025Thr)
c.6670T>A (p.Ser2224Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.237334780G>ACA431699138COL6A3c.1611-1232C>T
c.8457C>T (p.Thr2819=)
c.1202C>T
c.9075C>T (p.Thr3025=)
c.7251C>T (p.Thr2417=)
c.7254C>T (p.Thr2418=)
n.5517C>T
n.7C>T
c.8475C>T (p.Thr2825=)
c.7854C>T (p.Thr2618=)
c.8574C>T (p.Thr2858=)
c.9072C>T (p.Thr3024=)
c.6669C>T (p.Thr2223=)
 dbSNP gnomAD v3 gnomAD v4
2g.237334780G>CCA2187365COL6A3c.1611-1232C>G
c.8457C>G (p.Thr2819=)
c.1202C>G
c.9075C>G (p.Thr3025=)
c.7251C>G (p.Thr2417=)
c.7254C>G (p.Thr2418=)
n.5517C>G
n.7C>G
c.8475C>G (p.Thr2825=)
c.7854C>G (p.Thr2618=)
c.8574C>G (p.Thr2858=)
c.9072C>G (p.Thr3024=)
c.6669C>G (p.Thr2223=)
 dbSNP ExAC gnomAD v2 gnomAD v3
2g.237334780G=CA1337606453COL6A3c.1611-1232C=
c.8457C= (p.Thr2819=)
c.1202C=
c.9075C= (p.Thr3025=)
c.7251C= (p.Thr2417=)
c.7254C= (p.Thr2418=)
n.5517C=
n.7C=
c.8475C= (p.Thr2825=)
c.7854C= (p.Thr2618=)
c.8574C= (p.Thr2858=)
c.9072C= (p.Thr3024=)
c.6669C= (p.Thr2223=)
2g.237334780G>TCA431699139COL6A3c.1611-1232C>A
c.8457C>A (p.Thr2819=)
c.1202C>A
c.9075C>A (p.Thr3025=)
c.7251C>A (p.Thr2417=)
c.7254C>A (p.Thr2418=)
n.5517C>A
n.7C>A
c.8475C>A (p.Thr2825=)
c.7854C>A (p.Thr2618=)
c.8574C>A (p.Thr2858=)
c.9072C>A (p.Thr3024=)
c.6669C>A (p.Thr2223=)
 gnomAD v4
2g.237334781G>ACA351188731COL6A3c.1611-1233C>T
c.8456C>T (p.Thr2819Ile)
c.1201C>T
c.9074C>T (p.Thr3025Ile)
c.7250C>T (p.Thr2417Ile)
c.7253C>T (p.Thr2418Ile)
n.5516C>T
n.6C>T
c.8474C>T (p.Thr2825Ile)
c.7853C>T (p.Thr2618Ile)
c.8573C>T (p.Thr2858Ile)
c.9071C>T (p.Thr3024Ile)
c.6668C>T (p.Thr2223Ile)
2g.237334781G>CCA351188725COL6A3c.1611-1233C>G
c.8456C>G (p.Thr2819Ser)
c.1201C>G
c.9074C>G (p.Thr3025Ser)
c.7250C>G (p.Thr2417Ser)
c.7253C>G (p.Thr2418Ser)
n.5516C>G
n.6C>G
c.8474C>G (p.Thr2825Ser)
c.7853C>G (p.Thr2618Ser)
c.8573C>G (p.Thr2858Ser)
c.9071C>G (p.Thr3024Ser)
c.6668C>G (p.Thr2223Ser)
2g.237334781G>TCA351188723COL6A3c.1611-1233C>A
c.8456C>A (p.Thr2819Asn)
c.1201C>A
c.9074C>A (p.Thr3025Asn)
c.7250C>A (p.Thr2417Asn)
c.7253C>A (p.Thr2418Asn)
n.5516C>A
n.6C>A
c.8474C>A (p.Thr2825Asn)
c.7853C>A (p.Thr2618Asn)
c.8573C>A (p.Thr2858Asn)
c.9071C>A (p.Thr3024Asn)
c.6668C>A (p.Thr2223Asn)
2g.237334782T>ACA351188733COL6A3c.1611-1234A>T
c.8455A>T (p.Thr2819Ser)
c.1200A>T
c.9073A>T (p.Thr3025Ser)
c.7249A>T (p.Thr2417Ser)
c.7252A>T (p.Thr2418Ser)
n.5515A>T
n.5A>T
c.8473A>T (p.Thr2825Ser)
c.7852A>T (p.Thr2618Ser)
c.8572A>T (p.Thr2858Ser)
c.9070A>T (p.Thr3024Ser)
c.6667A>T (p.Thr2223Ser)
2g.237334782T>CCA351188735COL6A3c.1611-1234A>G
c.8455A>G (p.Thr2819Ala)
c.1200A>G
c.9073A>G (p.Thr3025Ala)
c.7249A>G (p.Thr2417Ala)
c.7252A>G (p.Thr2418Ala)
n.5515A>G
n.5A>G
c.8473A>G (p.Thr2825Ala)
c.7852A>G (p.Thr2618Ala)
c.8572A>G (p.Thr2858Ala)
c.9070A>G (p.Thr3024Ala)
c.6667A>G (p.Thr2223Ala)
2g.237334782T>GCA351188737COL6A3c.1611-1234A>C
c.8455A>C (p.Thr2819Pro)
c.1200A>C
c.9073A>C (p.Thr3025Pro)
c.7249A>C (p.Thr2417Pro)
c.7252A>C (p.Thr2418Pro)
n.5515A>C
n.5A>C
c.8473A>C (p.Thr2825Pro)
c.7852A>C (p.Thr2618Pro)
c.8572A>C (p.Thr2858Pro)
c.9070A>C (p.Thr3024Pro)
c.6667A>C (p.Thr2223Pro)
2g.237334783G>ACA431699143COL6A3c.1611-1235C>T
c.8454C>T (p.Val2818=)
c.1199C>T
c.9072C>T (p.Val3024=)
c.7248C>T (p.Val2416=)
c.7251C>T (p.Val2417=)
n.5514C>T
n.4C>T
c.8472C>T (p.Val2824=)
c.7851C>T (p.Val2617=)
c.8571C>T (p.Val2857=)
c.9069C>T (p.Val3023=)
c.6666C>T (p.Val2222=)
2g.237334783G>CCA431699141COL6A3c.1611-1235C>G
c.8454C>G (p.Val2818=)
c.1199C>G
c.9072C>G (p.Val3024=)
c.7248C>G (p.Val2416=)
c.7251C>G (p.Val2417=)
n.5514C>G
n.4C>G
c.8472C>G (p.Val2824=)
c.7851C>G (p.Val2617=)
c.8571C>G (p.Val2857=)
c.9069C>G (p.Val3023=)
c.6666C>G (p.Val2222=)
2g.237334783G=CA1337606454COL6A3c.1611-1235C=
c.8454C= (p.Val2818=)
c.1199C=
c.9072C= (p.Val3024=)
c.7248C= (p.Val2416=)
c.7251C= (p.Val2417=)
n.5514C=
n.4C=
c.8472C= (p.Val2824=)
c.7851C= (p.Val2617=)
c.8571C= (p.Val2857=)
c.9069C= (p.Val3023=)
c.6666C= (p.Val2222=)
2g.237334783G>TCA431699142COL6A3c.1611-1235C>A
c.8454C>A (p.Val2818=)
c.1199C>A
c.9072C>A (p.Val3024=)
c.7248C>A (p.Val2416=)
c.7251C>A (p.Val2417=)
n.5514C>A
n.4C>A
c.8472C>A (p.Val2824=)
c.7851C>A (p.Val2617=)
c.8571C>A (p.Val2857=)
c.9069C>A (p.Val3023=)
c.6666C>A (p.Val2222=)
 dbSNP gnomAD v3 gnomAD v4
2g.237334784A>CCA351188741COL6A3c.1611-1236T>G
c.8453T>G (p.Val2818Gly)
c.1198T>G
c.9071T>G (p.Val3024Gly)
c.7247T>G (p.Val2416Gly)
c.7250T>G (p.Val2417Gly)
n.5513T>G
n.3T>G
c.8471T>G (p.Val2824Gly)
c.7850T>G (p.Val2617Gly)
c.8570T>G (p.Val2857Gly)
c.9068T>G (p.Val3023Gly)
c.6665T>G (p.Val2222Gly)
2g.237334784A>GCA351188744COL6A3c.1611-1236T>C
c.8453T>C (p.Val2818Ala)
c.1198T>C
c.9071T>C (p.Val3024Ala)
c.7247T>C (p.Val2416Ala)
c.7250T>C (p.Val2417Ala)
n.5513T>C
n.3T>C
c.8471T>C (p.Val2824Ala)
c.7850T>C (p.Val2617Ala)
c.8570T>C (p.Val2857Ala)
c.9068T>C (p.Val3023Ala)
c.6665T>C (p.Val2222Ala)
2g.237334784A>TCA351188748COL6A3c.1611-1236T>A
c.8453T>A (p.Val2818Asp)
c.1198T>A
c.9071T>A (p.Val3024Asp)
c.7247T>A (p.Val2416Asp)
c.7250T>A (p.Val2417Asp)
n.5513T>A
n.3T>A
c.8471T>A (p.Val2824Asp)
c.7850T>A (p.Val2617Asp)
c.8570T>A (p.Val2857Asp)
c.9068T>A (p.Val3023Asp)
c.6665T>A (p.Val2222Asp)
2g.237334785C>ACA351188761COL6A3c.1611-1237G>T
c.8452G>T (p.Val2818Phe)
c.1197G>T
c.9070G>T (p.Val3024Phe)
c.7246G>T (p.Val2416Phe)
c.7249G>T (p.Val2417Phe)
n.5512G>T
n.2G>T
c.8470G>T (p.Val2824Phe)
c.7849G>T (p.Val2617Phe)
c.8569G>T (p.Val2857Phe)
c.9067G>T (p.Val3023Phe)
c.6664G>T (p.Val2222Phe)
2g.237334785C=CA1337606455COL6A3c.1611-1237G=
c.8452G= (p.Val2818=)
c.1197G=
c.9070G= (p.Val3024=)
c.7246G= (p.Val2416=)
c.7249G= (p.Val2417=)
n.5512G=
n.2G=
c.8470G= (p.Val2824=)
c.7849G= (p.Val2617=)
c.8569G= (p.Val2857=)
c.9067G= (p.Val3023=)
c.6664G= (p.Val2222=)
2g.237334785C>GCA351188764COL6A3c.1611-1237G>C
c.8452G>C (p.Val2818Leu)
c.1197G>C
c.9070G>C (p.Val3024Leu)
c.7246G>C (p.Val2416Leu)
c.7249G>C (p.Val2417Leu)
n.5512G>C
n.2G>C
c.8470G>C (p.Val2824Leu)
c.7849G>C (p.Val2617Leu)
c.8569G>C (p.Val2857Leu)
c.9067G>C (p.Val3023Leu)
c.6664G>C (p.Val2222Leu)
2g.237334785C>TCA2187366COL6A3c.1611-1237G>A
c.8452G>A (p.Val2818Ile)
c.1197G>A
c.9070G>A (p.Val3024Ile)
c.7246G>A (p.Val2416Ile)
c.7249G>A (p.Val2417Ile)
n.5512G>A
n.2G>A
c.8470G>A (p.Val2824Ile)
c.7849G>A (p.Val2617Ile)
c.8569G>A (p.Val2857Ile)
c.9067G>A (p.Val3023Ile)
c.6664G>A (p.Val2222Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334786G>ACA148089COL6A3c.1611-1238C>T
c.8451C>T (p.Thr2817=)
c.1196C>T
c.9069C>T (p.Thr3023=)
c.7245C>T (p.Thr2415=)
c.7248C>T (p.Thr2416=)
n.5511C>T
n.1C>T
c.8469C>T (p.Thr2823=)
c.7848C>T (p.Thr2616=)
c.8568C>T (p.Thr2856=)
c.9066C>T (p.Thr3022=)
c.6663C>T (p.Thr2221=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334786G>CCA431699144COL6A3c.1611-1238C>G
c.8451C>G (p.Thr2817=)
c.1196C>G
c.9069C>G (p.Thr3023=)
c.7245C>G (p.Thr2415=)
c.7248C>G (p.Thr2416=)
n.5511C>G
n.1C>G
c.8469C>G (p.Thr2823=)
c.7848C>G (p.Thr2616=)
c.8568C>G (p.Thr2856=)
c.9066C>G (p.Thr3022=)
c.6663C>G (p.Thr2221=)
2g.237334786G=CA1337606456COL6A3c.1611-1238C=
c.8451C= (p.Thr2817=)
c.1196C=
c.9069C= (p.Thr3023=)
c.7245C= (p.Thr2415=)
c.7248C= (p.Thr2416=)
n.5511C=
n.1C=
c.8469C= (p.Thr2823=)
c.7848C= (p.Thr2616=)
c.8568C= (p.Thr2856=)
c.9066C= (p.Thr3022=)
c.6663C= (p.Thr2221=)
2g.237334786G>TCA431699145COL6A3c.1611-1238C>A
c.8451C>A (p.Thr2817=)
c.1196C>A
c.9069C>A (p.Thr3023=)
c.7245C>A (p.Thr2415=)
c.7248C>A (p.Thr2416=)
n.5511C>A
n.1C>A
c.8469C>A (p.Thr2823=)
c.7848C>A (p.Thr2616=)
c.8568C>A (p.Thr2856=)
c.9066C>A (p.Thr3022=)
c.6663C>A (p.Thr2221=)
 COSMIC
2g.237334787G>ACA351188775COL6A3c.1611-1239C>T
c.8450C>T (p.Thr2817Ile)
c.1195C>T
c.9068C>T (p.Thr3023Ile)
c.7244C>T (p.Thr2415Ile)
c.7247C>T (p.Thr2416Ile)
n.5510C>T
c.8468C>T (p.Thr2823Ile)
c.7847C>T (p.Thr2616Ile)
c.8567C>T (p.Thr2856Ile)
c.9065C>T (p.Thr3022Ile)
c.6662C>T (p.Thr2221Ile)
 dbSNP COSMIC
2g.237334787G>CCA351188777COL6A3c.1611-1239C>G
c.8450C>G (p.Thr2817Ser)
c.1195C>G
c.9068C>G (p.Thr3023Ser)
c.7244C>G (p.Thr2415Ser)
c.7247C>G (p.Thr2416Ser)
n.5510C>G
c.8468C>G (p.Thr2823Ser)
c.7847C>G (p.Thr2616Ser)
c.8567C>G (p.Thr2856Ser)
c.9065C>G (p.Thr3022Ser)
c.6662C>G (p.Thr2221Ser)
2g.237334787G=CA1337606457COL6A3c.1611-1239C=
c.8450C= (p.Thr2817=)
c.1195C=
c.9068C= (p.Thr3023=)
c.7244C= (p.Thr2415=)
c.7247C= (p.Thr2416=)
n.5510C=
c.8468C= (p.Thr2823=)
c.7847C= (p.Thr2616=)
c.8567C= (p.Thr2856=)
c.9065C= (p.Thr3022=)
c.6662C= (p.Thr2221=)
2g.237334787G>TCA351188780COL6A3c.1611-1239C>A
c.8450C>A (p.Thr2817Asn)
c.1195C>A
c.9068C>A (p.Thr3023Asn)
c.7244C>A (p.Thr2415Asn)
c.7247C>A (p.Thr2416Asn)
n.5510C>A
c.8468C>A (p.Thr2823Asn)
c.7847C>A (p.Thr2616Asn)
c.8567C>A (p.Thr2856Asn)
c.9065C>A (p.Thr3022Asn)
c.6662C>A (p.Thr2221Asn)
 gnomAD v4
2g.237334788T>ACA351188789COL6A3c.1611-1240A>T
c.8449A>T (p.Thr2817Ser)
c.1194A>T
c.9067A>T (p.Thr3023Ser)
c.7243A>T (p.Thr2415Ser)
c.7246A>T (p.Thr2416Ser)
n.5509A>T
c.8467A>T (p.Thr2823Ser)
c.7846A>T (p.Thr2616Ser)
c.8566A>T (p.Thr2856Ser)
c.9064A>T (p.Thr3022Ser)
c.6661A>T (p.Thr2221Ser)
2g.237334788T>CCA351188781COL6A3c.1611-1240A>G
c.8449A>G (p.Thr2817Ala)
c.1194A>G
c.9067A>G (p.Thr3023Ala)
c.7243A>G (p.Thr2415Ala)
c.7246A>G (p.Thr2416Ala)
n.5509A>G
c.8467A>G (p.Thr2823Ala)
c.7846A>G (p.Thr2616Ala)
c.8566A>G (p.Thr2856Ala)
c.9064A>G (p.Thr3022Ala)
c.6661A>G (p.Thr2221Ala)
2g.237334788T>GCA351188787COL6A3c.1611-1240A>C
c.8449A>C (p.Thr2817Pro)
c.1194A>C
c.9067A>C (p.Thr3023Pro)
c.7243A>C (p.Thr2415Pro)
c.7246A>C (p.Thr2416Pro)
n.5509A>C
c.8467A>C (p.Thr2823Pro)
c.7846A>C (p.Thr2616Pro)
c.8566A>C (p.Thr2856Pro)
c.9064A>C (p.Thr3022Pro)
c.6661A>C (p.Thr2221Pro)
2g.237334789G>ACA431699146COL6A3c.1611-1241C>T
c.8448C>T (p.Leu2816=)
c.1193C>T
c.9066C>T (p.Leu3022=)
c.7242C>T (p.Leu2414=)
c.7245C>T (p.Leu2415=)
n.5508C>T
c.8466C>T (p.Leu2822=)
c.7845C>T (p.Leu2615=)
c.8565C>T (p.Leu2855=)
c.9063C>T (p.Leu3021=)
c.6660C>T (p.Leu2220=)
 dbSNP gnomAD v3 gnomAD v4
2g.237334789G>CCA431699147COL6A3c.1611-1241C>G
c.8448C>G (p.Leu2816=)
c.1193C>G
c.9066C>G (p.Leu3022=)
c.7242C>G (p.Leu2414=)
c.7245C>G (p.Leu2415=)
n.5508C>G
c.8466C>G (p.Leu2822=)
c.7845C>G (p.Leu2615=)
c.8565C>G (p.Leu2855=)
c.9063C>G (p.Leu3021=)
c.6660C>G (p.Leu2220=)
2g.237334789G=CA1337606458COL6A3c.1611-1241C=
c.8448C= (p.Leu2816=)
c.1193C=
c.9066C= (p.Leu3022=)
c.7242C= (p.Leu2414=)
c.7245C= (p.Leu2415=)
n.5508C=
c.8466C= (p.Leu2822=)
c.7845C= (p.Leu2615=)
c.8565C= (p.Leu2855=)
c.9063C= (p.Leu3021=)
c.6660C= (p.Leu2220=)
2g.237334789G>TCA431699148COL6A3c.1611-1241C>A
c.8448C>A (p.Leu2816=)
c.1193C>A
c.9066C>A (p.Leu3022=)
c.7242C>A (p.Leu2414=)
c.7245C>A (p.Leu2415=)
n.5508C>A
c.8466C>A (p.Leu2822=)
c.7845C>A (p.Leu2615=)
c.8565C>A (p.Leu2855=)
c.9063C>A (p.Leu3021=)
c.6660C>A (p.Leu2220=)
2g.237334790A>CCA351188793COL6A3c.1611-1242T>G
c.8447T>G (p.Leu2816Arg)
c.1192T>G
c.9065T>G (p.Leu3022Arg)
c.7241T>G (p.Leu2414Arg)
c.7244T>G (p.Leu2415Arg)
n.5507T>G
c.8465T>G (p.Leu2822Arg)
c.7844T>G (p.Leu2615Arg)
c.8564T>G (p.Leu2855Arg)
c.9062T>G (p.Leu3021Arg)
c.6659T>G (p.Leu2220Arg)
2g.237334790A>GCA351188796COL6A3c.1611-1242T>C
c.8447T>C (p.Leu2816Pro)
c.1192T>C
c.9065T>C (p.Leu3022Pro)
c.7241T>C (p.Leu2414Pro)
c.7244T>C (p.Leu2415Pro)
n.5507T>C
c.8465T>C (p.Leu2822Pro)
c.7844T>C (p.Leu2615Pro)
c.8564T>C (p.Leu2855Pro)
c.9062T>C (p.Leu3021Pro)
c.6659T>C (p.Leu2220Pro)
2g.237334790A>TCA351188798COL6A3c.1611-1242T>A
c.8447T>A (p.Leu2816His)
c.1192T>A
c.9065T>A (p.Leu3022His)
c.7241T>A (p.Leu2414His)
c.7244T>A (p.Leu2415His)
n.5507T>A
c.8465T>A (p.Leu2822His)
c.7844T>A (p.Leu2615His)
c.8564T>A (p.Leu2855His)
c.9062T>A (p.Leu3021His)
c.6659T>A (p.Leu2220His)
2g.237334791G>ACA351188799COL6A3c.1611-1243C>T
c.8446C>T (p.Leu2816Phe)
c.1191C>T
c.9064C>T (p.Leu3022Phe)
c.7240C>T (p.Leu2414Phe)
c.7243C>T (p.Leu2415Phe)
n.5506C>T
c.8464C>T (p.Leu2822Phe)
c.7843C>T (p.Leu2615Phe)
c.8563C>T (p.Leu2855Phe)
c.9061C>T (p.Leu3021Phe)
c.6658C>T (p.Leu2220Phe)
 gnomAD v4
2g.237334791G>CCA351188801COL6A3c.1611-1243C>G
c.8446C>G (p.Leu2816Val)
c.1191C>G
c.9064C>G (p.Leu3022Val)
c.7240C>G (p.Leu2414Val)
c.7243C>G (p.Leu2415Val)
n.5506C>G
c.8464C>G (p.Leu2822Val)
c.7843C>G (p.Leu2615Val)
c.8563C>G (p.Leu2855Val)
c.9061C>G (p.Leu3021Val)
c.6658C>G (p.Leu2220Val)
2g.237334791G>TCA351188805COL6A3c.1611-1243C>A
c.8446C>A (p.Leu2816Ile)
c.1191C>A
c.9064C>A (p.Leu3022Ile)
c.7240C>A (p.Leu2414Ile)
c.7243C>A (p.Leu2415Ile)
n.5506C>A
c.8464C>A (p.Leu2822Ile)
c.7843C>A (p.Leu2615Ile)
c.8563C>A (p.Leu2855Ile)
c.9061C>A (p.Leu3021Ile)
c.6658C>A (p.Leu2220Ile)
 COSMIC
2g.237334791_237334794delinsGGTCCA1337606459COL6A3c.1611-1246_1611-1243delinsGACC
c.8443_8446delinsGACC (p.Asp2815=)
c.1188_1191delinsGACC
c.9061_9064delinsGACC (p.Asp3021=)
c.7237_7240delinsGACC (p.Asp2413=)
c.7240_7243delinsGACC (p.Asp2414=)
n.5503_5506delinsGACC
c.8461_8464delinsGACC (p.Asp2821=)
c.7840_7843delinsGACC (p.Asp2614=)
c.8560_8563delinsGACC (p.Asp2854=)
c.9058_9061delinsGACC (p.Asp3020=)
c.6655_6658delinsGACC (p.Asp2219=)

Number of alleles fetched