Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237334881A=CA1337606500COL6A3c.1610+1254T=
c.8356T= (p.Ser2786=)
c.1101T=
c.8974T= (p.Ser2992=)
c.7150T= (p.Ser2384=)
c.7153T= (p.Ser2385=)
n.5416T=
c.8374T= (p.Ser2792=)
c.7753T= (p.Ser2585=)
c.8473T= (p.Ser2825=)
c.8971T= (p.Ser2991=)
c.6568T= (p.Ser2190=)
2g.237334881A>CCA351189641COL6A3c.1610+1254T>G
c.8356T>G (p.Ser2786Ala)
c.1101T>G
c.8974T>G (p.Ser2992Ala)
c.7150T>G (p.Ser2384Ala)
c.7153T>G (p.Ser2385Ala)
n.5416T>G
c.8374T>G (p.Ser2792Ala)
c.7753T>G (p.Ser2585Ala)
c.8473T>G (p.Ser2825Ala)
c.8971T>G (p.Ser2991Ala)
c.6568T>G (p.Ser2190Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237334881A>GCA351189643COL6A3c.1610+1254T>C
c.8356T>C (p.Ser2786Pro)
c.1101T>C
c.8974T>C (p.Ser2992Pro)
c.7150T>C (p.Ser2384Pro)
c.7153T>C (p.Ser2385Pro)
n.5416T>C
c.8374T>C (p.Ser2792Pro)
c.7753T>C (p.Ser2585Pro)
c.8473T>C (p.Ser2825Pro)
c.8971T>C (p.Ser2991Pro)
c.6568T>C (p.Ser2190Pro)
2g.237334881A>TCA10604703COL6A3c.1610+1254T>A
c.8356T>A (p.Ser2786Thr)
c.1101T>A
c.8974T>A (p.Ser2992Thr)
c.7150T>A (p.Ser2384Thr)
c.7153T>A (p.Ser2385Thr)
n.5416T>A
c.8374T>A (p.Ser2792Thr)
c.7753T>A (p.Ser2585Thr)
c.8473T>A (p.Ser2825Thr)
c.8971T>A (p.Ser2991Thr)
c.6568T>A (p.Ser2190Thr)
 ClinVar dbSNP
2g.237334882C>ACA351189648COL6A3c.1610+1253G>T
c.8355G>T (p.Met2785Ile)
c.1100G>T
c.8973G>T (p.Met2991Ile)
c.7149G>T (p.Met2383Ile)
c.7152G>T (p.Met2384Ile)
n.5415G>T
c.8373G>T (p.Met2791Ile)
c.7752G>T (p.Met2584Ile)
c.8472G>T (p.Met2824Ile)
c.8970G>T (p.Met2990Ile)
c.6567G>T (p.Met2189Ile)
2g.237334882C>GCA351189655COL6A3c.1610+1253G>C
c.8355G>C (p.Met2785Ile)
c.1100G>C
c.8973G>C (p.Met2991Ile)
c.7149G>C (p.Met2383Ile)
c.7152G>C (p.Met2384Ile)
n.5415G>C
c.8373G>C (p.Met2791Ile)
c.7752G>C (p.Met2584Ile)
c.8472G>C (p.Met2824Ile)
c.8970G>C (p.Met2990Ile)
c.6567G>C (p.Met2189Ile)
2g.237334882C>TCA351189657COL6A3c.1610+1253G>A
c.8355G>A (p.Met2785Ile)
c.1100G>A
c.8973G>A (p.Met2991Ile)
c.7149G>A (p.Met2383Ile)
c.7152G>A (p.Met2384Ile)
n.5415G>A
c.8373G>A (p.Met2791Ile)
c.7752G>A (p.Met2584Ile)
c.8472G>A (p.Met2824Ile)
c.8970G>A (p.Met2990Ile)
c.6567G>A (p.Met2189Ile)
 gnomAD v4
2g.237334883A=CA1337606501COL6A3c.1610+1252T=
c.8354T= (p.Met2785=)
c.1099T=
c.8972T= (p.Met2991=)
c.7148T= (p.Met2383=)
c.7151T= (p.Met2384=)
n.5414T=
c.8372T= (p.Met2791=)
c.7751T= (p.Met2584=)
c.8471T= (p.Met2824=)
c.8969T= (p.Met2990=)
c.6566T= (p.Met2189=)
2g.237334883A>CCA351189659COL6A3c.1610+1252T>G
c.8354T>G (p.Met2785Arg)
c.1099T>G
c.8972T>G (p.Met2991Arg)
c.7148T>G (p.Met2383Arg)
c.7151T>G (p.Met2384Arg)
n.5414T>G
c.8372T>G (p.Met2791Arg)
c.7751T>G (p.Met2584Arg)
c.8471T>G (p.Met2824Arg)
c.8969T>G (p.Met2990Arg)
c.6566T>G (p.Met2189Arg)
2g.237334883A>GCA2187392COL6A3c.1610+1252T>C
c.8354T>C (p.Met2785Thr)
c.1099T>C
c.8972T>C (p.Met2991Thr)
c.7148T>C (p.Met2383Thr)
c.7151T>C (p.Met2384Thr)
n.5414T>C
c.8372T>C (p.Met2791Thr)
c.7751T>C (p.Met2584Thr)
c.8471T>C (p.Met2824Thr)
c.8969T>C (p.Met2990Thr)
c.6566T>C (p.Met2189Thr)
 dbSNP ExAC gnomAD v2
2g.237334883A>TCA351189663COL6A3c.1610+1252T>A
c.8354T>A (p.Met2785Lys)
c.1099T>A
c.8972T>A (p.Met2991Lys)
c.7148T>A (p.Met2383Lys)
c.7151T>A (p.Met2384Lys)
n.5414T>A
c.8372T>A (p.Met2791Lys)
c.7751T>A (p.Met2584Lys)
c.8471T>A (p.Met2824Lys)
c.8969T>A (p.Met2990Lys)
c.6566T>A (p.Met2189Lys)
 ClinVar gnomAD v4
2g.237334884T>ACA67829661COL6A3c.1610+1251A>T
c.8353A>T (p.Met2785Leu)
c.1098A>T
c.8971A>T (p.Met2991Leu)
c.7147A>T (p.Met2383Leu)
c.7150A>T (p.Met2384Leu)
n.5413A>T
c.8371A>T (p.Met2791Leu)
c.7750A>T (p.Met2584Leu)
c.8470A>T (p.Met2824Leu)
c.8968A>T (p.Met2990Leu)
c.6565A>T (p.Met2189Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.237334884T>CCA351189668COL6A3c.1610+1251A>G
c.8353A>G (p.Met2785Val)
c.1098A>G
c.8971A>G (p.Met2991Val)
c.7147A>G (p.Met2383Val)
c.7150A>G (p.Met2384Val)
n.5413A>G
c.8371A>G (p.Met2791Val)
c.7750A>G (p.Met2584Val)
c.8470A>G (p.Met2824Val)
c.8968A>G (p.Met2990Val)
c.6565A>G (p.Met2189Val)
 dbSNP gnomAD v4
2g.237334884T>GCA351189671COL6A3c.1610+1251A>C
c.8353A>C (p.Met2785Leu)
c.1098A>C
c.8971A>C (p.Met2991Leu)
c.7147A>C (p.Met2383Leu)
c.7150A>C (p.Met2384Leu)
n.5413A>C
c.8371A>C (p.Met2791Leu)
c.7750A>C (p.Met2584Leu)
c.8470A>C (p.Met2824Leu)
c.8968A>C (p.Met2990Leu)
c.6565A>C (p.Met2189Leu)
2g.237334884T=CA1337606502COL6A3c.1610+1251A=
c.8353A= (p.Met2785=)
c.1098A=
c.8971A= (p.Met2991=)
c.7147A= (p.Met2383=)
c.7150A= (p.Met2384=)
n.5413A=
c.8371A= (p.Met2791=)
c.7750A= (p.Met2584=)
c.8470A= (p.Met2824=)
c.8968A= (p.Met2990=)
c.6565A= (p.Met2189=)
2g.237334885C>ACA351189680COL6A3c.1610+1250G>T
c.8352G>T (p.Lys2784Asn)
c.1097G>T
c.8970G>T (p.Lys2990Asn)
c.7146G>T (p.Lys2382Asn)
c.7149G>T (p.Lys2383Asn)
n.5412G>T
c.8370G>T (p.Lys2790Asn)
c.7749G>T (p.Lys2583Asn)
c.8469G>T (p.Lys2823Asn)
c.8967G>T (p.Lys2989Asn)
c.6564G>T (p.Lys2188Asn)
2g.237334885C=CA1337606503COL6A3c.1610+1250G=
c.8352G= (p.Lys2784=)
c.1097G=
c.8970G= (p.Lys2990=)
c.7146G= (p.Lys2382=)
c.7149G= (p.Lys2383=)
n.5412G=
c.8370G= (p.Lys2790=)
c.7749G= (p.Lys2583=)
c.8469G= (p.Lys2823=)
c.8967G= (p.Lys2989=)
c.6564G= (p.Lys2188=)
2g.237334885C>GCA351189677COL6A3c.1610+1250G>C
c.8352G>C (p.Lys2784Asn)
c.1097G>C
c.8970G>C (p.Lys2990Asn)
c.7146G>C (p.Lys2382Asn)
c.7149G>C (p.Lys2383Asn)
n.5412G>C
c.8370G>C (p.Lys2790Asn)
c.7749G>C (p.Lys2583Asn)
c.8469G>C (p.Lys2823Asn)
c.8967G>C (p.Lys2989Asn)
c.6564G>C (p.Lys2188Asn)
2g.237334885C>TCA245572COL6A3c.1610+1250G>A
c.8352G>A (p.Lys2784=)
c.1097G>A
c.8970G>A (p.Lys2990=)
c.7146G>A (p.Lys2382=)
c.7149G>A (p.Lys2383=)
n.5412G>A
c.8370G>A (p.Lys2790=)
c.7749G>A (p.Lys2583=)
c.8469G>A (p.Lys2823=)
c.8967G>A (p.Lys2989=)
c.6564G>A (p.Lys2188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237334886T>ACA351189684COL6A3c.1610+1249A>T
c.8351A>T (p.Lys2784Met)
c.1096A>T
c.8969A>T (p.Lys2990Met)
c.7145A>T (p.Lys2382Met)
c.7148A>T (p.Lys2383Met)
n.5411A>T
c.8369A>T (p.Lys2790Met)
c.7748A>T (p.Lys2583Met)
c.8468A>T (p.Lys2823Met)
c.8966A>T (p.Lys2989Met)
c.6563A>T (p.Lys2188Met)
2g.237334886T>CCA351189687COL6A3c.1610+1249A>G
c.8351A>G (p.Lys2784Arg)
c.1096A>G
c.8969A>G (p.Lys2990Arg)
c.7145A>G (p.Lys2382Arg)
c.7148A>G (p.Lys2383Arg)
n.5411A>G
c.8369A>G (p.Lys2790Arg)
c.7748A>G (p.Lys2583Arg)
c.8468A>G (p.Lys2823Arg)
c.8966A>G (p.Lys2989Arg)
c.6563A>G (p.Lys2188Arg)
2g.237334886T>GCA351189689COL6A3c.1610+1249A>C
c.8351A>C (p.Lys2784Thr)
c.1096A>C
c.8969A>C (p.Lys2990Thr)
c.7145A>C (p.Lys2382Thr)
c.7148A>C (p.Lys2383Thr)
n.5411A>C
c.8369A>C (p.Lys2790Thr)
c.7748A>C (p.Lys2583Thr)
c.8468A>C (p.Lys2823Thr)
c.8966A>C (p.Lys2989Thr)
c.6563A>C (p.Lys2188Thr)
 gnomAD v4
2g.237334887T>ACA351189691COL6A3c.1610+1248A>T
c.8350A>T (p.Lys2784Ter)
c.1095A>T
c.8968A>T (p.Lys2990Ter)
c.7144A>T (p.Lys2382Ter)
c.7147A>T (p.Lys2383Ter)
n.5410A>T
c.8368A>T (p.Lys2790Ter)
c.7747A>T (p.Lys2583Ter)
c.8467A>T (p.Lys2823Ter)
c.8965A>T (p.Lys2989Ter)
c.6562A>T (p.Lys2188Ter)
2g.237334887T>CCA351189694COL6A3c.1610+1248A>G
c.8350A>G (p.Lys2784Glu)
c.1095A>G
c.8968A>G (p.Lys2990Glu)
c.7144A>G (p.Lys2382Glu)
c.7147A>G (p.Lys2383Glu)
n.5410A>G
c.8368A>G (p.Lys2790Glu)
c.7747A>G (p.Lys2583Glu)
c.8467A>G (p.Lys2823Glu)
c.8965A>G (p.Lys2989Glu)
c.6562A>G (p.Lys2188Glu)
2g.237334887T>GCA351189697COL6A3c.1610+1248A>C
c.8350A>C (p.Lys2784Gln)
c.1095A>C
c.8968A>C (p.Lys2990Gln)
c.7144A>C (p.Lys2382Gln)
c.7147A>C (p.Lys2383Gln)
n.5410A>C
c.8368A>C (p.Lys2790Gln)
c.7747A>C (p.Lys2583Gln)
c.8467A>C (p.Lys2823Gln)
c.8965A>C (p.Lys2989Gln)
c.6562A>C (p.Lys2188Gln)
2g.237334888A=CA1337606504COL6A3c.1610+1247T=
c.8349T= (p.Val2783=)
c.1094T=
c.8967T= (p.Val2989=)
c.7143T= (p.Val2381=)
c.7146T= (p.Val2382=)
n.5409T=
c.8367T= (p.Val2789=)
c.7746T= (p.Val2582=)
c.8466T= (p.Val2822=)
c.8964T= (p.Val2988=)
c.6561T= (p.Val2187=)
2g.237334888A>CCA431699202COL6A3c.1610+1247T>G
c.8349T>G (p.Val2783=)
c.1094T>G
c.8967T>G (p.Val2989=)
c.7143T>G (p.Val2381=)
c.7146T>G (p.Val2382=)
n.5409T>G
c.8367T>G (p.Val2789=)
c.7746T>G (p.Val2582=)
c.8466T>G (p.Val2822=)
c.8964T>G (p.Val2988=)
c.6561T>G (p.Val2187=)
 dbSNP gnomAD v3 gnomAD v4
2g.237334888A>GCA431699203COL6A3c.1610+1247T>C
c.8349T>C (p.Val2783=)
c.1094T>C
c.8967T>C (p.Val2989=)
c.7143T>C (p.Val2381=)
c.7146T>C (p.Val2382=)
n.5409T>C
c.8367T>C (p.Val2789=)
c.7746T>C (p.Val2582=)
c.8466T>C (p.Val2822=)
c.8964T>C (p.Val2988=)
c.6561T>C (p.Val2187=)
 gnomAD v4
2g.237334888A>TCA431699204COL6A3c.1610+1247T>A
c.8349T>A (p.Val2783=)
c.1094T>A
c.8967T>A (p.Val2989=)
c.7143T>A (p.Val2381=)
c.7146T>A (p.Val2382=)
n.5409T>A
c.8367T>A (p.Val2789=)
c.7746T>A (p.Val2582=)
c.8466T>A (p.Val2822=)
c.8964T>A (p.Val2988=)
c.6561T>A (p.Val2187=)
2g.237334889A>CCA351189700COL6A3c.1610+1246T>G
c.8348T>G (p.Val2783Gly)
c.1093T>G
c.8966T>G (p.Val2989Gly)
c.7142T>G (p.Val2381Gly)
c.7145T>G (p.Val2382Gly)
n.5408T>G
c.8366T>G (p.Val2789Gly)
c.7745T>G (p.Val2582Gly)
c.8465T>G (p.Val2822Gly)
c.8963T>G (p.Val2988Gly)
c.6560T>G (p.Val2187Gly)
2g.237334889A>GCA351189703COL6A3c.1610+1246T>C
c.8348T>C (p.Val2783Ala)
c.1093T>C
c.8966T>C (p.Val2989Ala)
c.7142T>C (p.Val2381Ala)
c.7145T>C (p.Val2382Ala)
n.5408T>C
c.8366T>C (p.Val2789Ala)
c.7745T>C (p.Val2582Ala)
c.8465T>C (p.Val2822Ala)
c.8963T>C (p.Val2988Ala)
c.6560T>C (p.Val2187Ala)
 gnomAD v4
2g.237334889A>TCA351189710COL6A3c.1610+1246T>A
c.8348T>A (p.Val2783Asp)
c.1093T>A
c.8966T>A (p.Val2989Asp)
c.7142T>A (p.Val2381Asp)
c.7145T>A (p.Val2382Asp)
n.5408T>A
c.8366T>A (p.Val2789Asp)
c.7745T>A (p.Val2582Asp)
c.8465T>A (p.Val2822Asp)
c.8963T>A (p.Val2988Asp)
c.6560T>A (p.Val2187Asp)
2g.237334890C>ACA351189713COL6A3c.1610+1245G>T
c.8348-1G>T (n.8348-1G>T)
c.1093-1G>T
c.8966-1G>T (n.8966-1G>T)
c.7142-1G>T (n.7142-1G>T)
c.7145-1G>T (n.7145-1G>T)
n.5408-1G>T
c.8366-1G>T (n.8366-1G>T)
c.7745-1G>T (n.7745-1G>T)
c.8465-1G>T (n.8465-1G>T)
c.8963-1G>T (n.8963-1G>T)
c.6560-1G>T (n.6560-1G>T)
2g.237334890C=CA1337606505COL6A3c.1610+1245G=
c.8348-1G= (n.8348-1G=)
c.1093-1G=
c.8966-1G= (n.8966-1G=)
c.7142-1G= (n.7142-1G=)
c.7145-1G= (n.7145-1G=)
n.5408-1G=
c.8366-1G= (n.8366-1G=)
c.7745-1G= (n.7745-1G=)
c.8465-1G= (n.8465-1G=)
c.8963-1G= (n.8963-1G=)
c.6560-1G= (n.6560-1G=)
2g.237334890C>GCA200148COL6A3c.1610+1245G>C
c.8348-1G>C (n.8348-1G>C)
c.1093-1G>C
c.8966-1G>C (n.8966-1G>C)
c.7142-1G>C (n.7142-1G>C)
c.7145-1G>C (n.7145-1G>C)
n.5408-1G>C
c.8366-1G>C (n.8366-1G>C)
c.7745-1G>C (n.7745-1G>C)
c.8465-1G>C (n.8465-1G>C)
c.8963-1G>C (n.8963-1G>C)
c.6560-1G>C (n.6560-1G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334890C>TCA351189729COL6A3c.1610+1245G>A
c.8348-1G>A (n.8348-1G>A)
c.1093-1G>A
c.8966-1G>A (n.8966-1G>A)
c.7142-1G>A (n.7142-1G>A)
c.7145-1G>A (n.7145-1G>A)
n.5408-1G>A
c.8366-1G>A (n.8366-1G>A)
c.7745-1G>A (n.7745-1G>A)
c.8465-1G>A (n.8465-1G>A)
c.8963-1G>A (n.8963-1G>A)
c.6560-1G>A (n.6560-1G>A)
 gnomAD v4 COSMIC
2g.237334891T>ACA351189739COL6A3c.1610+1244A>T
c.8348-2A>T (n.8348-2A>T)
c.1093-2A>T
c.8966-2A>T (n.8966-2A>T)
c.7142-2A>T (n.7142-2A>T)
c.7145-2A>T (n.7145-2A>T)
n.5408-2A>T
c.8366-2A>T (n.8366-2A>T)
c.7745-2A>T (n.7745-2A>T)
c.8465-2A>T (n.8465-2A>T)
c.8963-2A>T (n.8963-2A>T)
c.6560-2A>T (n.6560-2A>T)
2g.237334891T>CCA67829670COL6A3c.1610+1244A>G
c.8348-2A>G (n.8348-2A>G)
c.1093-2A>G
c.8966-2A>G (n.8966-2A>G)
c.7142-2A>G (n.7142-2A>G)
c.7145-2A>G (n.7145-2A>G)
n.5408-2A>G
c.8366-2A>G (n.8366-2A>G)
c.7745-2A>G (n.7745-2A>G)
c.8465-2A>G (n.8465-2A>G)
c.8963-2A>G (n.8963-2A>G)
c.6560-2A>G (n.6560-2A>G)
 dbSNP gnomAD v4
2g.237334891T>GCA351189735COL6A3c.1610+1244A>C
c.8348-2A>C (n.8348-2A>C)
c.1093-2A>C
c.8966-2A>C (n.8966-2A>C)
c.7142-2A>C (n.7142-2A>C)
c.7145-2A>C (n.7145-2A>C)
n.5408-2A>C
c.8366-2A>C (n.8366-2A>C)
c.7745-2A>C (n.7745-2A>C)
c.8465-2A>C (n.8465-2A>C)
c.8963-2A>C (n.8963-2A>C)
c.6560-2A>C (n.6560-2A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334891T=CA1337606506COL6A3c.1610+1244A=
c.8348-2A= (n.8348-2A=)
c.1093-2A=
c.8966-2A= (n.8966-2A=)
c.7142-2A= (n.7142-2A=)
c.7145-2A= (n.7145-2A=)
n.5408-2A=
c.8366-2A= (n.8366-2A=)
c.7745-2A= (n.7745-2A=)
c.8465-2A= (n.8465-2A=)
c.8963-2A= (n.8963-2A=)
c.6560-2A= (n.6560-2A=)
2g.237334892delCA2663791987COL6A3c.1610+1243del
c.8348-3del (n.8348-3del)
c.1093-3del
c.8966-3del (n.8966-3del)
c.7142-3del (n.7142-3del)
c.7145-3del (n.7145-3del)
n.5408-3del
c.8366-3del (n.8366-3del)
c.7745-3del (n.7745-3del)
c.8465-3del (n.8465-3del)
c.8963-3del (n.8963-3del)
c.6560-3del (n.6560-3del)
 gnomAD v4
2g.237334892G>ACA2663791988COL6A3c.1610+1243C>T
c.8348-3C>T (n.8348-3C>T)
c.1093-3C>T
c.8966-3C>T (n.8966-3C>T)
c.7142-3C>T (n.7142-3C>T)
c.7145-3C>T (n.7145-3C>T)
n.5408-3C>T
c.8366-3C>T (n.8366-3C>T)
c.7745-3C>T (n.7745-3C>T)
c.8465-3C>T (n.8465-3C>T)
c.8963-3C>T (n.8963-3C>T)
c.6560-3C>T (n.6560-3C>T)
 ClinVar gnomAD v4
2g.237334892G=CA1337606507COL6A3c.1610+1243C=
c.8348-3C= (n.8348-3C=)
c.1093-3C=
c.8966-3C= (n.8966-3C=)
c.7142-3C= (n.7142-3C=)
c.7145-3C= (n.7145-3C=)
n.5408-3C=
c.8366-3C= (n.8366-3C=)
c.7745-3C= (n.7745-3C=)
c.8465-3C= (n.8465-3C=)
c.8963-3C= (n.8963-3C=)
c.6560-3C= (n.6560-3C=)
2g.237334892G>TCA2187393COL6A3c.1610+1243C>A
c.8348-3C>A (n.8348-3C>A)
c.1093-3C>A
c.8966-3C>A (n.8966-3C>A)
c.7142-3C>A (n.7142-3C>A)
c.7145-3C>A (n.7145-3C>A)
n.5408-3C>A
c.8366-3C>A (n.8366-3C>A)
c.7745-3C>A (n.7745-3C>A)
c.8465-3C>A (n.8465-3C>A)
c.8963-3C>A (n.8963-3C>A)
c.6560-3C>A (n.6560-3C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334895A=CA1337606508COL6A3c.1610+1240T=
c.8348-6T= (n.8348-6T=)
c.1093-6T=
c.8966-6T= (n.8966-6T=)
c.7142-6T= (n.7142-6T=)
c.7145-6T= (n.7145-6T=)
n.5408-6T=
c.8366-6T= (n.8366-6T=)
c.7745-6T= (n.7745-6T=)
c.8465-6T= (n.8465-6T=)
c.8963-6T= (n.8963-6T=)
c.6560-6T= (n.6560-6T=)
2g.237334895A>CCA2663791989COL6A3c.1610+1240T>G
c.8348-6T>G (n.8348-6T>G)
c.1093-6T>G
c.8966-6T>G (n.8966-6T>G)
c.7142-6T>G (n.7142-6T>G)
c.7145-6T>G (n.7145-6T>G)
n.5408-6T>G
c.8366-6T>G (n.8366-6T>G)
c.7745-6T>G (n.7745-6T>G)
c.8465-6T>G (n.8465-6T>G)
c.8963-6T>G (n.8963-6T>G)
c.6560-6T>G (n.6560-6T>G)
 gnomAD v4
2g.237334895A>GCA2187394COL6A3c.1610+1240T>C
c.8348-6T>C (n.8348-6T>C)
c.1093-6T>C
c.8966-6T>C (n.8966-6T>C)
c.7142-6T>C (n.7142-6T>C)
c.7145-6T>C (n.7145-6T>C)
n.5408-6T>C
c.8366-6T>C (n.8366-6T>C)
c.7745-6T>C (n.7745-6T>C)
c.8465-6T>C (n.8465-6T>C)
c.8963-6T>C (n.8963-6T>C)
c.6560-6T>C (n.6560-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334896G>ACA2663791990COL6A3c.1610+1239C>T
c.8348-7C>T (n.8348-7C>T)
c.1093-7C>T
c.8966-7C>T (n.8966-7C>T)
c.7142-7C>T (n.7142-7C>T)
c.7145-7C>T (n.7145-7C>T)
n.5408-7C>T
c.8366-7C>T (n.8366-7C>T)
c.7745-7C>T (n.7745-7C>T)
c.8465-7C>T (n.8465-7C>T)
c.8963-7C>T (n.8963-7C>T)
c.6560-7C>T (n.6560-7C>T)
 gnomAD v4
2g.237334897A>GCA2663791991COL6A3c.1610+1238T>C
c.8348-8T>C (n.8348-8T>C)
c.1093-8T>C
c.8966-8T>C (n.8966-8T>C)
c.7142-8T>C (n.7142-8T>C)
c.7145-8T>C (n.7145-8T>C)
n.5408-8T>C
c.8366-8T>C (n.8366-8T>C)
c.7745-8T>C (n.7745-8T>C)
c.8465-8T>C (n.8465-8T>C)
c.8963-8T>C (n.8963-8T>C)
c.6560-8T>C (n.6560-8T>C)
 gnomAD v4
2g.237334898T>CCA2577289253COL6A3c.1610+1237A>G
c.8348-9A>G (n.8348-9A>G)
c.1093-9A>G
c.8966-9A>G (n.8966-9A>G)
c.7142-9A>G (n.7142-9A>G)
c.7145-9A>G (n.7145-9A>G)
n.5408-9A>G
c.8366-9A>G (n.8366-9A>G)
c.7745-9A>G (n.7745-9A>G)
c.8465-9A>G (n.8465-9A>G)
c.8963-9A>G (n.8963-9A>G)
c.6560-9A>G (n.6560-9A>G)
 gnomAD v4

Number of alleles fetched