Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.46001257C>ACA410532944COL6A1n.226C>A
c.1827C>A (p.Cys609Ter)
n.61C>A
c.1821C>A (p.Cys607Ter)
21g.46001257C>GCA410532941COL6A1n.226C>G
c.1827C>G (p.Cys609Trp)
n.61C>G
c.1821C>G (p.Cys607Trp)
21g.46001257C>TCA512718582COL6A1n.226C>T
c.1827C>T (p.Cys609=)
n.61C>T
c.1821C>T (p.Cys607=)
 ClinVar gnomAD v4
21g.46001258A>CCA410532949COL6A1n.227A>C
c.1828A>C (p.Lys610Gln)
n.62A>C
c.1822A>C (p.Lys608Gln)
 gnomAD v4
21g.46001258A>GCA410532956COL6A1n.227A>G
c.1828A>G (p.Lys610Glu)
n.62A>G
c.1822A>G (p.Lys608Glu)
21g.46001258A>TCA410532960COL6A1n.227A>T
c.1828A>T (p.Lys610Ter)
n.62A>T
c.1822A>T (p.Lys608Ter)
 COSMIC
21g.46001259A=CA2392440406COL6A1n.228A=
c.1829A= (p.Lys610=)
n.63A=
c.1823A= (p.Lys608=)
21g.46001259A>CCA10070637COL6A1n.228A>C
c.1829A>C (p.Lys610Thr)
n.63A>C
c.1823A>C (p.Lys608Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001259A>GCA410532967COL6A1n.228A>G
c.1829A>G (p.Lys610Arg)
n.63A>G
c.1823A>G (p.Lys608Arg)
21g.46001259A>TCA410532970COL6A1n.228A>T
c.1829A>T (p.Lys610Met)
n.63A>T
c.1823A>T (p.Lys608Met)
 gnomAD v4
21g.46001260G>ACA512718583COL6A1n.229G>A
c.1830G>A (p.Lys610=)
n.64G>A
c.1824G>A (p.Lys608=)
 ClinVar gnomAD v4
21g.46001260G>CCA410532978COL6A1n.229G>C
c.1830G>C (p.Lys610Asn)
n.64G>C
c.1824G>C (p.Lys608Asn)
 dbSNP
21g.46001260G=CA2392440407COL6A1n.229G=
c.1830G= (p.Lys610=)
n.64G=
c.1824G= (p.Lys608=)
21g.46001260G>TCA410532976COL6A1n.229G>T
c.1830G>T (p.Lys610Asn)
n.64G>T
c.1824G>T (p.Lys608Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46001261T>ACA410532982COL6A1n.230T>A
c.1831T>A (p.Cys611Ser)
n.65T>A
c.1825T>A (p.Cys609Ser)
21g.46001261T>CCA410532985COL6A1n.230T>C
c.1831T>C (p.Cys611Arg)
n.65T>C
c.1825T>C (p.Cys609Arg)
 dbSNP gnomAD v2 gnomAD v4
21g.46001261T>GCA410532989COL6A1n.230T>G
c.1831T>G (p.Cys611Gly)
n.65T>G
c.1825T>G (p.Cys609Gly)
21g.46001261T=CA2392440408COL6A1n.230T=
c.1831T= (p.Cys611=)
n.65T=
c.1825T= (p.Cys609=)
21g.46001262G>ACA410532995COL6A1n.231G>A
c.1832G>A (p.Cys611Tyr)
n.66G>A
c.1826G>A (p.Cys609Tyr)
21g.46001262G>CCA410532998COL6A1n.231G>C
c.1832G>C (p.Cys611Ser)
n.66G>C
c.1826G>C (p.Cys609Ser)
21g.46001262G>TCA410533002COL6A1n.231G>T
c.1832G>T (p.Cys611Phe)
n.66G>T
c.1826G>T (p.Cys609Phe)
21g.46001263C>ACA410533016COL6A1n.232C>A
c.1833C>A (p.Cys611Ter)
n.67C>A
c.1827C>A (p.Cys609Ter)
21g.46001263C=CA2392440409COL6A1n.232C=
c.1833C= (p.Cys611=)
n.67C=
c.1827C= (p.Cys609=)
21g.46001263C>GCA410533011COL6A1n.232C>G
c.1833C>G (p.Cys611Trp)
n.67C>G
c.1827C>G (p.Cys609Trp)
21g.46001263C>TCA147350COL6A1n.232C>T
c.1833C>T (p.Cys611=)
n.67C>T
c.1827C>T (p.Cys609=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001264G>ACA10070638COL6A1n.233G>A
c.1834G>A (p.Gly612Ser)
n.68G>A
c.1828G>A (p.Gly610Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001264G>CCA410533024COL6A1n.233G>C
c.1834G>C (p.Gly612Arg)
n.68G>C
c.1828G>C (p.Gly610Arg)
21g.46001264G=CA2392440410COL6A1n.233G=
c.1834G= (p.Gly612=)
n.68G=
c.1828G= (p.Gly610=)
21g.46001264G>TCA410533026COL6A1n.233G>T
c.1834G>T (p.Gly612Cys)
n.68G>T
c.1828G>T (p.Gly610Cys)
21g.46001265G>ACA410533030COL6A1n.234G>A
c.1835G>A (p.Gly612Asp)
n.69G>A
c.1829G>A (p.Gly610Asp)
21g.46001265G>CCA410533033COL6A1n.234G>C
c.1835G>C (p.Gly612Ala)
n.69G>C
c.1829G>C (p.Gly610Ala)
21g.46001265G=CA2392440411COL6A1n.234G=
c.1835G= (p.Gly612=)
n.69G=
c.1829G= (p.Gly610=)
21g.46001265G>TCA410533038COL6A1n.234G>T
c.1835G>T (p.Gly612Val)
n.69G>T
c.1829G>T (p.Gly610Val)
 ClinVar dbSNP gnomAD v4
21g.46001266C>ACA512718586COL6A1n.235C>A
c.1836C>A (p.Gly612=)
n.70C>A
c.1830C>A (p.Gly610=)
21g.46001266C=CA2392440412COL6A1n.235C=
c.1836C= (p.Gly612=)
n.70C=
c.1830C= (p.Gly610=)
21g.46001266C>GCA512718584COL6A1n.235C>G
c.1836C>G (p.Gly612=)
n.70C>G
c.1830C>G (p.Gly610=)
21g.46001266C>TCA512718585COL6A1n.235C>T
c.1836C>T (p.Gly612=)
n.70C>T
c.1830C>T (p.Gly610=)
 dbSNP gnomAD v2 gnomAD v4
21g.46001269delCA2654959165COL6A1n.238del
c.1839del (p.Ile614SerfsTer?)
n.73del
c.1833del (p.Ile612SerfsTer?)
 gnomAD v4
21g.46001267C>ACA10070639COL6A1n.236C>A
c.1837C>A (p.Pro613Thr)
n.71C>A
c.1831C>A (p.Pro611Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001267C=CA2392440413COL6A1n.236C=
c.1837C= (p.Pro613=)
n.71C=
c.1831C= (p.Pro611=)
21g.46001267C>GCA410533044COL6A1n.236C>G
c.1837C>G (p.Pro613Ala)
n.71C>G
c.1831C>G (p.Pro611Ala)
21g.46001267C>TCA410533047COL6A1n.236C>T
c.1837C>T (p.Pro613Ser)
n.71C>T
c.1831C>T (p.Pro611Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46001268C>ACA410533052COL6A1n.237C>A
c.1838C>A (p.Pro613His)
n.72C>A
c.1832C>A (p.Pro611His)
21g.46001268C>GCA410533055COL6A1n.237C>G
c.1838C>G (p.Pro613Arg)
n.72C>G
c.1832C>G (p.Pro611Arg)
21g.46001268C>TCA410533058COL6A1n.237C>T
c.1838C>T (p.Pro613Leu)
n.72C>T
c.1832C>T (p.Pro611Leu)
21g.46001269C>ACA512718587COL6A1n.238C>A
c.1839C>A (p.Pro613=)
n.73C>A
c.1833C>A (p.Pro611=)
21g.46001269C=CA2392440414COL6A1n.238C=
c.1839C= (p.Pro613=)
n.73C=
c.1833C= (p.Pro611=)
21g.46001269C>GCA512718588COL6A1n.238C>G
c.1839C>G (p.Pro613=)
n.73C>G
c.1833C>G (p.Pro611=)
21g.46001269C>TCA10070640COL6A1n.238C>T
c.1839C>T (p.Pro613=)
n.73C>T
c.1833C>T (p.Pro611=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001270A=CA2392440415COL6A1n.239A=
c.1840A= (p.Ile614=)
n.74A=
c.1834A= (p.Ile612=)
21g.46001270A>CCA410533069COL6A1n.239A>C
c.1840A>C (p.Ile614Leu)
n.74A>C
c.1834A>C (p.Ile612Leu)
21g.46001270A>GCA10070641COL6A1n.239A>G
c.1840A>G (p.Ile614Val)
n.74A>G
c.1834A>G (p.Ile612Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001270A>TCA410533065COL6A1n.239A>T
c.1840A>T (p.Ile614Phe)
n.74A>T
c.1834A>T (p.Ile612Phe)
21g.46001271T>ACA410533077COL6A1n.240T>A
c.1841T>A (p.Ile614Asn)
n.75T>A
c.1835T>A (p.Ile612Asn)
21g.46001271T>CCA410533079COL6A1n.240T>C
c.1841T>C (p.Ile614Thr)
n.75T>C
c.1835T>C (p.Ile612Thr)
21g.46001271T>GCA410533083COL6A1n.240T>G
c.1841T>G (p.Ile614Ser)
n.75T>G
c.1835T>G (p.Ile612Ser)
21g.46001272C>ACA512718589COL6A1n.241C>A
c.1842C>A (p.Ile614=)
n.76C>A
c.1836C>A (p.Ile612=)
 gnomAD v4
21g.46001272C=CA2392440416COL6A1n.241C=
c.1842C= (p.Ile614=)
n.76C=
c.1836C= (p.Ile612=)
21g.46001272C>GCA321975467COL6A1n.241C>G
c.1842C>G (p.Ile614Met)
n.76C>G
c.1836C>G (p.Ile612Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
21g.46001272C>TCA10070642COL6A1n.241C>T
c.1842C>T (p.Ile614=)
n.76C>T
c.1836C>T (p.Ile612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001273delCA2654959173COL6A1n.242del
c.1843del (p.Asp615ThrfsTer?)
n.77del
c.1837del (p.Asp613ThrfsTer?)
 gnomAD v4
21g.46001273G>ACA10070644COL6A1n.242G>A
c.1843G>A (p.Asp615Asn)
n.77G>A
c.1837G>A (p.Asp613Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001273G>CCA10070643COL6A1n.242G>C
c.1843G>C (p.Asp615His)
n.77G>C
c.1837G>C (p.Asp613His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001273G=CA2392440417COL6A1n.242G=
c.1843G= (p.Asp615=)
n.77G=
c.1837G= (p.Asp613=)
21g.46001273G>TCA410533096COL6A1n.242G>T
c.1843G>T (p.Asp615Tyr)
n.77G>T
c.1837G>T (p.Asp613Tyr)
 gnomAD v4
21g.46001274A>CCA410533101COL6A1n.243A>C
c.1844A>C (p.Asp615Ala)
n.78A>C
c.1838A>C (p.Asp613Ala)
21g.46001274A>GCA410533109COL6A1n.243A>G
c.1844A>G (p.Asp615Gly)
n.78A>G
c.1838A>G (p.Asp613Gly)
21g.46001274A>TCA410533112COL6A1n.243A>T
c.1844A>T (p.Asp615Val)
n.78A>T
c.1838A>T (p.Asp613Val)
21g.46001274_46001277delinsACCTCA2392440418COL6A1n.243_246delinsACCT
c.1844_1847delinsACCT (p.Asp615=)
n.78_81delinsACCT
c.1838_1841delinsACCT (p.Asp613=)
21g.46001275C>ACA410533116COL6A1n.244C>A
c.1845C>A (p.Asp615Glu)
n.79C>A
c.1839C>A (p.Asp613Glu)
21g.46001275C>GCA410533118COL6A1n.244C>G
c.1845C>G (p.Asp615Glu)
n.79C>G
c.1839C>G (p.Asp613Glu)
21g.46001275C>TCA512718590COL6A1n.244C>T
c.1845C>T (p.Asp615=)
n.79C>T
c.1839C>T (p.Asp613=)
 gnomAD v4
21g.46001278_46001280delCA645294124COL6A1n.247_249del
c.1848_1850del (p.Leu617del)
n.82_84del
c.1842_1844del (p.Leu615del)
 ClinVar dbSNP gnomAD v4
21g.46001276C>ACA410533124COL6A1n.245C>A
c.1846C>A (p.Leu616Ile)
n.80C>A
c.1840C>A (p.Leu614Ile)
21g.46001276C=CA2392440419COL6A1n.245C=
c.1846C= (p.Leu616=)
n.80C=
c.1840C= (p.Leu614=)
21g.46001276C>GCA410533127COL6A1n.245C>G
c.1846C>G (p.Leu616Val)
n.80C>G
c.1840C>G (p.Leu614Val)
21g.46001276C>TCA410533122COL6A1n.245C>T
c.1846C>T (p.Leu616Phe)
n.80C>T
c.1840C>T (p.Leu614Phe)
 ClinVar dbSNP gnomAD v4
21g.46001277T>ACA321975471COL6A1n.246T>A
c.1847T>A (p.Leu616His)
n.81T>A
c.1841T>A (p.Leu614His)
 dbSNP
21g.46001277T>CCA410533134COL6A1n.246T>C
c.1847T>C (p.Leu616Pro)
n.81T>C
c.1841T>C (p.Leu614Pro)
21g.46001277T>GCA410533132COL6A1n.246T>G
c.1847T>G (p.Leu616Arg)
n.81T>G
c.1841T>G (p.Leu614Arg)
21g.46001277T=CA2392440420COL6A1n.246T=
c.1847T= (p.Leu616=)
n.81T=
c.1841T= (p.Leu614=)
21g.46001278C>ACA512718591COL6A1n.247C>A
c.1848C>A (p.Leu616=)
n.82C>A
c.1842C>A (p.Leu614=)
21g.46001278C=CA2392440421COL6A1n.247C=
c.1848C= (p.Leu616=)
n.82C=
c.1842C= (p.Leu614=)
21g.46001278C>GCA512718592COL6A1n.247C>G
c.1848C>G (p.Leu616=)
n.82C>G
c.1842C>G (p.Leu614=)
21g.46001278C>TCA512718593COL6A1n.247C>T
c.1848C>T (p.Leu616=)
n.82C>T
c.1842C>T (p.Leu614=)
 dbSNP gnomAD v2 gnomAD v4
21g.46001279C>ACA410533138COL6A1n.248C>A
c.1849C>A (p.Leu617Met)
n.83C>A
c.1843C>A (p.Leu615Met)
21g.46001279C=CA2392440422COL6A1n.248C=
c.1849C= (p.Leu617=)
n.83C=
c.1843C= (p.Leu615=)
21g.46001279C>GCA410533143COL6A1n.248C>G
c.1849C>G (p.Leu617Val)
n.83C>G
c.1843C>G (p.Leu615Val)
21g.46001279C>TCA512718594COL6A1n.248C>T
c.1849C>T (p.Leu617=)
n.83C>T
c.1843C>T (p.Leu615=)
 dbSNP gnomAD v2 gnomAD v4
21g.46001280T>ACA410533147COL6A1n.249T>A
c.1850T>A (p.Leu617Gln)
n.84T>A
c.1844T>A (p.Leu615Gln)
21g.46001280T>CCA410533150COL6A1n.249T>C
c.1850T>C (p.Leu617Pro)
n.84T>C
c.1844T>C (p.Leu615Pro)
21g.46001280T>GCA410533154COL6A1n.249T>G
c.1850T>G (p.Leu617Arg)
n.84T>G
c.1844T>G (p.Leu615Arg)
21g.46001281G>ACA512718595COL6A1n.250G>A
c.1851G>A (p.Leu617=)
n.85G>A
c.1845G>A (p.Leu615=)
 dbSNP gnomAD v4
21g.46001281G>CCA512718596COL6A1n.250G>C
c.1851G>C (p.Leu617=)
n.85G>C
c.1845G>C (p.Leu615=)
 gnomAD v4
21g.46001281G>TCA512718597COL6A1n.250G>T
c.1851G>T (p.Leu617=)
n.85G>T
c.1845G>T (p.Leu615=)
 gnomAD v4
21g.46001282T>ACA410533159COL6A1n.251T>A
c.1852T>A (p.Phe618Ile)
n.86T>A
c.1846T>A (p.Phe616Ile)
21g.46001282T>CCA410533162COL6A1n.251T>C
c.1852T>C (p.Phe618Leu)
n.86T>C
c.1846T>C (p.Phe616Leu)
21g.46001282T>GCA410533166COL6A1n.251T>G
c.1852T>G (p.Phe618Val)
n.86T>G
c.1846T>G (p.Phe616Val)
21g.46001283T>ACA410533169COL6A1n.252T>A
c.1853T>A (p.Phe618Tyr)
n.87T>A
c.1847T>A (p.Phe616Tyr)
21g.46001283T>CCA410533172COL6A1n.252T>C
c.1853T>C (p.Phe618Ser)
n.87T>C
c.1847T>C (p.Phe616Ser)
21g.46001283T>GCA410533176COL6A1n.252T>G
c.1853T>G (p.Phe618Cys)
n.87T>G
c.1847T>G (p.Phe616Cys)
21g.46001284C>ACA10070646COL6A1n.253C>A
c.1854C>A (p.Phe618Leu)
n.88C>A
c.1848C>A (p.Phe616Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001284C=CA2392440423COL6A1n.253C=
c.1854C= (p.Phe618=)
n.88C=
c.1848C= (p.Phe616=)
21g.46001284C>GCA410533181COL6A1n.253C>G
c.1854C>G (p.Phe618Leu)
n.88C>G
c.1848C>G (p.Phe616Leu)
 gnomAD v4
21g.46001284C>TCA10070645COL6A1n.253C>T
c.1854C>T (p.Phe618=)
n.88C>T
c.1848C>T (p.Phe616=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46001285G>ACA10070647COL6A1n.254G>A
c.1855G>A (p.Val619Met)
n.89G>A
c.1849G>A (p.Val617Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001285G>CCA410533190COL6A1n.254G>C
c.1855G>C (p.Val619Leu)
n.89G>C
c.1849G>C (p.Val617Leu)
 dbSNP gnomAD v2 gnomAD v4
21g.46001285G=CA2392440424COL6A1n.254G=
c.1855G= (p.Val619=)
n.89G=
c.1849G= (p.Val617=)
21g.46001285G>TCA321975484COL6A1n.254G>T
c.1855G>T (p.Val619Leu)
n.89G>T
c.1849G>T (p.Val617Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46001286T>ACA410533199COL6A1n.255T>A
c.1856T>A (p.Val619Glu)
n.90T>A
c.1850T>A (p.Val617Glu)
21g.46001286T>CCA410533203COL6A1n.255T>C
c.1856T>C (p.Val619Ala)
n.90T>C
c.1850T>C (p.Val617Ala)
21g.46001286T>GCA410533206COL6A1n.255T>G
c.1856T>G (p.Val619Gly)
n.90T>G
c.1850T>G (p.Val617Gly)
21g.46001287G>ACA512718598COL6A1n.256G>A
c.1857G>A (p.Val619=)
n.91G>A
c.1851G>A (p.Val617=)
 gnomAD v4
21g.46001287G>CCA512718599COL6A1n.256G>C
c.1857G>C (p.Val619=)
n.91G>C
c.1851G>C (p.Val617=)
21g.46001287G>TCA512718600COL6A1n.256G>T
c.1857G>T (p.Val619=)
n.91G>T
c.1851G>T (p.Val617=)
 gnomAD v4
21g.46001288C>ACA410533218COL6A1n.257C>A
c.1858C>A (p.Leu620Met)
n.92C>A
c.1852C>A (p.Leu618Met)
21g.46001288C>GCA410533223COL6A1n.257C>G
c.1858C>G (p.Leu620Val)
n.92C>G
c.1852C>G (p.Leu618Val)
21g.46001288C>TCA512718601COL6A1n.257C>T
c.1858C>T (p.Leu620=)
n.92C>T
c.1852C>T (p.Leu618=)
21g.46001289T>ACA410533226COL6A1n.258T>A
c.1859T>A (p.Leu620Gln)
n.93T>A
c.1853T>A (p.Leu618Gln)
21g.46001289T>CCA410533230COL6A1n.258T>C
c.1859T>C (p.Leu620Pro)
n.93T>C
c.1853T>C (p.Leu618Pro)
21g.46001289T>GCA410533235COL6A1n.258T>G
c.1859T>G (p.Leu620Arg)
n.93T>G
c.1853T>G (p.Leu618Arg)
21g.46001290G>ACA512718602COL6A1n.259G>A
c.1860G>A (p.Leu620=)
n.94G>A
c.1854G>A (p.Leu618=)
21g.46001290G>CCA512718603COL6A1n.259G>C
c.1860G>C (p.Leu620=)
n.94G>C
c.1854G>C (p.Leu618=)
21g.46001290G>TCA512718604COL6A1n.259G>T
c.1860G>T (p.Leu620=)
n.94G>T
c.1854G>T (p.Leu618=)
21g.46001291G>ACA410533237COL6A1n.260G>A
c.1861G>A (p.Asp621Asn)
n.95G>A
c.1855G>A (p.Asp619Asn)
21g.46001291G>CCA410533238COL6A1n.260G>C
c.1861G>C (p.Asp621His)
n.95G>C
c.1855G>C (p.Asp619His)
21g.46001291G>TCA410533236COL6A1n.260G>T
c.1861G>T (p.Asp621Tyr)
n.95G>T
c.1855G>T (p.Asp619Tyr)
 gnomAD v4
21g.46001292A>CCA410533242COL6A1n.261A>C
c.1862A>C (p.Asp621Ala)
n.96A>C
c.1856A>C (p.Asp619Ala)
21g.46001292A>GCA410533246COL6A1n.261A>G
c.1862A>G (p.Asp621Gly)
n.96A>G
c.1856A>G (p.Asp619Gly)
21g.46001292A>TCA410533249COL6A1n.261A>T
c.1862A>T (p.Asp621Val)
n.96A>T
c.1856A>T (p.Asp619Val)
21g.46001293C>ACA410533251COL6A1n.262C>A
c.1863C>A (p.Asp621Glu)
n.97C>A
c.1857C>A (p.Asp619Glu)
21g.46001293C>GCA410533254COL6A1n.262C>G
c.1863C>G (p.Asp621Glu)
n.97C>G
c.1857C>G (p.Asp619Glu)
 gnomAD v4
21g.46001293C>TCA512718605COL6A1n.262C>T
c.1863C>T (p.Asp621=)
n.97C>T
c.1857C>T (p.Asp619=)
21g.46001294A>CCA410533258COL6A1n.263A>C
c.1864A>C (p.Ser622Arg)
n.98A>C
c.1858A>C (p.Ser620Arg)
21g.46001294A>GCA410533260COL6A1n.263A>G
c.1864A>G (p.Ser622Gly)
n.98A>G
c.1858A>G (p.Ser620Gly)
21g.46001294A>TCA410533262COL6A1n.263A>T
c.1864A>T (p.Ser622Cys)
n.98A>T
c.1858A>T (p.Ser620Cys)
21g.46001295G>ACA410533267COL6A1n.264G>A
c.1865G>A (p.Ser622Asn)
n.99G>A
c.1859G>A (p.Ser620Asn)
 gnomAD v4
21g.46001295G>CCA410533269COL6A1n.264G>C
c.1865G>C (p.Ser622Thr)
n.99G>C
c.1859G>C (p.Ser620Thr)
21g.46001295G>TCA410533277COL6A1n.264G>T
c.1865G>T (p.Ser622Ile)
n.99G>T
c.1859G>T (p.Ser620Ile)
21g.46001296C>ACA410533279COL6A1n.265C>A
c.1866C>A (p.Ser622Arg)
n.100C>A
c.1860C>A (p.Ser620Arg)
 gnomAD v4
21g.46001296C=CA2392440425COL6A1n.265C=
c.1866C= (p.Ser622=)
n.100C=
c.1860C= (p.Ser620=)
21g.46001296C>GCA410533282COL6A1n.265C>G
c.1866C>G (p.Ser622Arg)
n.100C>G
c.1860C>G (p.Ser620Arg)
21g.46001296C>TCA512718606COL6A1n.265C>T
c.1866C>T (p.Ser622=)
n.100C>T
c.1860C>T (p.Ser620=)
 dbSNP gnomAD v2
21g.46001297_46001298delCA2573157637COL6A1n.266_267del
c.1867_1868del (p.Ser623ArgfsTer?)
n.101_102del
c.1861_1862del (p.Ser621ArgfsTer?)
 ClinVar dbSNP gnomAD v4
21g.46001297T>ACA410533298COL6A1n.266T>A
c.1867T>A (p.Ser623Thr)
n.101T>A
c.1861T>A (p.Ser621Thr)
21g.46001297T>CCA410533288COL6A1n.266T>C
c.1867T>C (p.Ser623Pro)
n.101T>C
c.1861T>C (p.Ser621Pro)
21g.46001297T>GCA410533285COL6A1n.266T>G
c.1867T>G (p.Ser623Ala)
n.101T>G
c.1861T>G (p.Ser621Ala)
21g.46001298C>ACA410533302COL6A1n.267C>A
c.1868C>A (p.Ser623Ter)
n.102C>A
c.1862C>A (p.Ser621Ter)
21g.46001298C>GCA410533305COL6A1n.267C>G
c.1868C>G (p.Ser623Ter)
n.102C>G
c.1862C>G (p.Ser621Ter)
 ClinVar
21g.46001298C>TCA410533308COL6A1n.267C>T
c.1868C>T (p.Ser623Leu)
n.102C>T
c.1862C>T (p.Ser621Leu)
 gnomAD v4
21g.46001299A>CCA512718607COL6A1n.268A>C
c.1869A>C (p.Ser623=)
n.103A>C
c.1863A>C (p.Ser621=)
21g.46001299A>GCA512718608COL6A1n.268A>G
c.1869A>G (p.Ser623=)
n.103A>G
c.1863A>G (p.Ser621=)
21g.46001299A>TCA512718609COL6A1n.268A>T
c.1869A>T (p.Ser623=)
n.103A>T
c.1863A>T (p.Ser621=)
21g.46001300G>ACA410533315COL6A1n.269G>A
c.1870G>A (p.Glu624Lys)
n.104G>A
c.1864G>A (p.Glu622Lys)
21g.46001300G>CCA410533318COL6A1n.269G>C
c.1870G>C (p.Glu624Gln)
n.104G>C
c.1864G>C (p.Glu622Gln)
 COSMIC
21g.46001300G>TCA410533320COL6A1n.269G>T
c.1870G>T (p.Glu624Ter)
n.104G>T
c.1864G>T (p.Glu622Ter)
 gnomAD v4
21g.46001301A=CA2392440426COL6A1n.270A=
c.1871A= (p.Glu624=)
n.105A=
c.1865A= (p.Glu622=)
21g.46001301A>CCA410533326COL6A1n.270A>C
c.1871A>C (p.Glu624Ala)
n.105A>C
c.1865A>C (p.Glu622Ala)
21g.46001301A>GCA321975487COL6A1n.270A>G
c.1871A>G (p.Glu624Gly)
n.105A>G
c.1865A>G (p.Glu622Gly)
 dbSNP gnomAD v4
21g.46001301A>TCA410533334COL6A1n.270A>T
c.1871A>T (p.Glu624Val)
n.105A>T
c.1865A>T (p.Glu622Val)
21g.46001302G>ACA512718610COL6A1n.271G>A
c.1872G>A (p.Glu624=)
n.106G>A
c.1866G>A (p.Glu622=)
21g.46001302G>CCA410533339COL6A1n.271G>C
c.1872G>C (p.Glu624Asp)
n.106G>C
c.1866G>C (p.Glu622Asp)
21g.46001302G>TCA410533341COL6A1n.271G>T
c.1872G>T (p.Glu624Asp)
n.106G>T
c.1866G>T (p.Glu622Asp)
21g.46001303A>CCA410533346COL6A1n.272A>C
c.1873A>C (p.Ser625Arg)
n.107A>C
c.1867A>C (p.Ser623Arg)
21g.46001303A>GCA410533348COL6A1n.272A>G
c.1873A>G (p.Ser625Gly)
n.107A>G
c.1867A>G (p.Ser623Gly)
 gnomAD v4
21g.46001303A>TCA410533351COL6A1n.272A>T
c.1873A>T (p.Ser625Cys)
n.107A>T
c.1867A>T (p.Ser623Cys)
21g.46001304G>ACA410533363COL6A1n.273G>A
c.1874G>A (p.Ser625Asn)
n.108G>A
c.1868G>A (p.Ser623Asn)
21g.46001304G>CCA410533367COL6A1n.273G>C
c.1874G>C (p.Ser625Thr)
n.108G>C
c.1868G>C (p.Ser623Thr)
21g.46001304G>TCA410533361COL6A1n.273G>T
c.1874G>T (p.Ser625Ile)
n.108G>T
c.1868G>T (p.Ser623Ile)
21g.46001306_46001311delCA2654959227COL6A1n.275_280del
c.1876_1881del (p.Ile626_Gly627del)
n.110_115del
c.1870_1875del (p.Ile624_Gly625del)
 gnomAD v4
21g.46001305C>ACA321975498COL6A1n.274C>A
c.1C>A
c.1875C>A (p.Ser625Arg)
n.109C>A
c.1869C>A (p.Ser623Arg)
 dbSNP gnomAD v4
21g.46001305C=CA2392440427COL6A1n.274C=
c.1C=
c.1875C= (p.Ser625=)
n.109C=
c.1869C= (p.Ser623=)
21g.46001305C>GCA410533372COL6A1n.274C>G
c.1C>G
c.1875C>G (p.Ser625Arg)
n.109C>G
c.1869C>G (p.Ser623Arg)
21g.46001305C>TCA512718611COL6A1n.274C>T
c.1C>T
c.1875C>T (p.Ser625=)
n.109C>T
c.1869C>T (p.Ser623=)
 gnomAD v4
21g.46001306A>CCA410533387COL6A1n.275A>C
c.2A>C
c.1876A>C (p.Ile626Leu)
n.110A>C
c.1870A>C (p.Ile624Leu)
21g.46001306A>GCA410533377COL6A1n.275A>G
c.2A>G
c.1876A>G (p.Ile626Val)
n.110A>G
c.1870A>G (p.Ile624Val)
 gnomAD v4
21g.46001306A>TCA410533384COL6A1n.275A>T
c.2A>T
c.1876A>T (p.Ile626Phe)
n.110A>T
c.1870A>T (p.Ile624Phe)
21g.46001307T>ACA410533390COL6A1n.276T>A
c.3T>A
c.1877T>A (p.Ile626Asn)
n.111T>A
c.1871T>A (p.Ile624Asn)
21g.46001307T>CCA10070648COL6A1n.276T>C
c.3T>C
c.1877T>C (p.Ile626Thr)
n.111T>C
c.1871T>C (p.Ile624Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001307T>GCA410533393COL6A1n.276T>G
c.3T>G
c.1877T>G (p.Ile626Ser)
n.111T>G
c.1871T>G (p.Ile624Ser)
21g.46001307T=CA2392440428COL6A1n.276T=
c.3T=
c.1877T= (p.Ile626=)
n.111T=
c.1871T= (p.Ile624=)
21g.46001308T>ACA512718612COL6A1n.277T>A
c.4T>A
c.1878T>A (p.Ile626=)
n.112T>A
c.1872T>A (p.Ile624=)
21g.46001308T>CCA512718613COL6A1n.277T>C
c.4T>C
c.1878T>C (p.Ile626=)
n.112T>C
c.1872T>C (p.Ile624=)
21g.46001308T>GCA410533402COL6A1n.277T>G
c.4T>G
c.1878T>G (p.Ile626Met)
n.112T>G
c.1872T>G (p.Ile624Met)
21g.46001309G>ACA410533409COL6A1n.278G>A
c.5G>A
c.1879G>A (p.Gly627Ser)
n.113G>A
c.1873G>A (p.Gly625Ser)
21g.46001309G>CCA410533407COL6A1n.278G>C
c.5G>C
c.1879G>C (p.Gly627Arg)
n.113G>C
c.1873G>C (p.Gly625Arg)
21g.46001309G>TCA410533408COL6A1n.278G>T
c.5G>T
c.1879G>T (p.Gly627Cys)
n.113G>T
c.1873G>T (p.Gly625Cys)
21g.46001310G>ACA410533410COL6A1n.279G>A
c.6G>A
c.1880G>A (p.Gly627Asp)
n.114G>A
c.1874G>A (p.Gly625Asp)
21g.46001310G>CCA410533411COL6A1n.279G>C
c.6G>C
c.1880G>C (p.Gly627Ala)
n.114G>C
c.1874G>C (p.Gly625Ala)
21g.46001310G>TCA410533413COL6A1n.279G>T
c.6G>T
c.1880G>T (p.Gly627Val)
n.114G>T
c.1874G>T (p.Gly625Val)
 gnomAD v4
21g.46001311C>ACA512718616COL6A1n.280C>A
c.7C>A
c.1881C>A (p.Gly627=)
n.115C>A
c.1875C>A (p.Gly625=)
21g.46001311C>GCA512718614COL6A1n.280C>G
c.7C>G
c.1881C>G (p.Gly627=)
n.115C>G
c.1875C>G (p.Gly625=)
21g.46001311C>TCA512718615COL6A1n.280C>T
c.7C>T
c.1881C>T (p.Gly627=)
n.115C>T
c.1875C>T (p.Gly625=)
21g.46001312C>ACA410533417COL6A1n.281C>A
c.8C>A
c.1882C>A (p.Leu628Met)
n.116C>A
c.1876C>A (p.Leu626Met)
21g.46001312C>GCA410533420COL6A1n.281C>G
c.8C>G
c.1882C>G (p.Leu628Val)
n.116C>G
c.1876C>G (p.Leu626Val)
21g.46001312C>TCA512718617COL6A1n.281C>T
c.8C>T
c.1882C>T (p.Leu628=)
n.116C>T
c.1876C>T (p.Leu626=)
 gnomAD v4
21g.46001313T>ACA410533424COL6A1n.282T>A
c.9T>A
c.1883T>A (p.Leu628Gln)
n.117T>A
c.1877T>A (p.Leu626Gln)
21g.46001313T>CCA410533428COL6A1n.282T>C
c.9T>C
c.1883T>C (p.Leu628Pro)
n.117T>C
c.1877T>C (p.Leu626Pro)
 gnomAD v4
21g.46001313T>GCA410533427COL6A1n.282T>G
c.9T>G
c.1883T>G (p.Leu628Arg)
n.117T>G
c.1877T>G (p.Leu626Arg)
21g.46001314G>ACA512718618COL6A1n.283G>A
c.10G>A
c.1884G>A (p.Leu628=)
n.118G>A
c.1878G>A (p.Leu626=)
 dbSNP COSMIC
21g.46001314G>CCA512718619COL6A1n.283G>C
c.10G>C
c.1884G>C (p.Leu628=)
n.118G>C
c.1878G>C (p.Leu626=)
21g.46001314G=CA2392440429COL6A1n.283G=
c.10G=
c.1884G= (p.Leu628=)
n.118G=
c.1878G= (p.Leu626=)
21g.46001314G>TCA512718620COL6A1n.283G>T
c.10G>T
c.1884G>T (p.Leu628=)
n.118G>T
c.1878G>T (p.Leu626=)
 gnomAD v4
21g.46001315C>ACA410533429COL6A1n.284C>A
c.11C>A
c.1885C>A (p.Gln629Lys)
n.119C>A
c.1879C>A (p.Gln627Lys)
21g.46001315C>GCA410533430COL6A1n.284C>G
c.11C>G
c.1885C>G (p.Gln629Glu)
n.119C>G
c.1879C>G (p.Gln627Glu)
21g.46001315C>TCA410533433COL6A1n.284C>T
c.11C>T
c.1885C>T (p.Gln629Ter)
n.119C>T
c.1879C>T (p.Gln627Ter)
21g.46001316A>CCA410533435COL6A1n.285A>C
c.12A>C
c.1886A>C (p.Gln629Pro)
n.120A>C
c.1880A>C (p.Gln627Pro)
 gnomAD v4
21g.46001316A>GCA410533438COL6A1n.285A>G
c.12A>G
c.1886A>G (p.Gln629Arg)
n.120A>G
c.1880A>G (p.Gln627Arg)
21g.46001316A>TCA410533442COL6A1n.285A>T
c.12A>T
c.1886A>T (p.Gln629Leu)
n.120A>T
c.1880A>T (p.Gln627Leu)
21g.46001317G>ACA512718621COL6A1n.286G>A
c.13G>A
c.1887G>A (p.Gln629=)
n.121G>A
c.1881G>A (p.Gln627=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.46001317G>CCA410533445COL6A1n.286G>C
c.13G>C
c.1887G>C (p.Gln629His)
n.121G>C
c.1881G>C (p.Gln627His)
21g.46001317G=CA2392440430COL6A1n.286G=
c.13G=
c.1887G= (p.Gln629=)
n.121G=
c.1881G= (p.Gln627=)
21g.46001317G>TCA410533446COL6A1n.286G>T
c.13G>T
c.1887G>T (p.Gln629His)
n.121G>T
c.1881G>T (p.Gln627His)
 gnomAD v4
21g.46001318A>CCA410533449COL6A1n.287A>C
c.14A>C
c.1888A>C (p.Asn630His)
n.122A>C
c.1882A>C (p.Asn628His)
21g.46001318A>GCA410533451COL6A1n.287A>G
c.14A>G
c.1888A>G (p.Asn630Asp)
n.122A>G
c.1882A>G (p.Asn628Asp)
21g.46001318A>TCA410533454COL6A1n.287A>T
c.14A>T
c.1888A>T (p.Asn630Tyr)
n.122A>T
c.1882A>T (p.Asn628Tyr)
21g.46001319A>CCA410533460COL6A1n.288A>C
c.15A>C
c.1889A>C (p.Asn630Thr)
n.123A>C
c.1883A>C (p.Asn628Thr)
21g.46001319A>GCA410533459COL6A1n.288A>G
c.15A>G
c.1889A>G (p.Asn630Ser)
n.123A>G
c.1883A>G (p.Asn628Ser)
21g.46001319A>TCA410533458COL6A1n.288A>T
c.15A>T
c.1889A>T (p.Asn630Ile)
n.123A>T
c.1883A>T (p.Asn628Ile)
21g.46001320C>ACA410533466COL6A1n.289C>A
c.16C>A
c.1890C>A (p.Asn630Lys)
n.124C>A
c.1884C>A (p.Asn628Lys)
21g.46001320C=CA2392440431COL6A1n.289C=
c.16C=
c.1890C= (p.Asn630=)
n.124C=
c.1884C= (p.Asn628=)
21g.46001320C>GCA410533462COL6A1n.289C>G
c.16C>G
c.1890C>G (p.Asn630Lys)
n.124C>G
c.1884C>G (p.Asn628Lys)
21g.46001320C>TCA10653692COL6A1n.289C>T
c.16C>T
c.1890C>T (p.Asn630=)
n.124C>T
c.1884C>T (p.Asn628=)
 ClinVar dbSNP
21g.46001321T>ACA410533468COL6A1n.290T>A
c.17T>A
c.1891T>A (p.Phe631Ile)
n.125T>A
c.1885T>A (p.Phe629Ile)
21g.46001321T>CCA410533470COL6A1n.290T>C
c.17T>C
c.1891T>C (p.Phe631Leu)
n.125T>C
c.1885T>C (p.Phe629Leu)
21g.46001321T>GCA321975507COL6A1n.290T>G
c.17T>G
c.1891T>G (p.Phe631Val)
n.125T>G
c.1885T>G (p.Phe629Val)
 dbSNP
21g.46001321T=CA2392440432COL6A1n.290T=
c.17T=
c.1891T= (p.Phe631=)
n.125T=
c.1885T= (p.Phe629=)
21g.46001322T>ACA410533476COL6A1n.291T>A
c.18T>A
c.1892T>A (p.Phe631Tyr)
n.126T>A
c.1886T>A (p.Phe629Tyr)
21g.46001322T>CCA410533474COL6A1n.291T>C
c.18T>C
c.1892T>C (p.Phe631Ser)
n.126T>C
c.1886T>C (p.Phe629Ser)
21g.46001322T>GCA410533472COL6A1n.291T>G
c.18T>G
c.1892T>G (p.Phe631Cys)
n.126T>G
c.1886T>G (p.Phe629Cys)
21g.46001323C>ACA410533480COL6A1n.292C>A
c.19C>A
c.1893C>A (p.Phe631Leu)
n.127C>A
c.1887C>A (p.Phe629Leu)
21g.46001323C=CA2392440433COL6A1n.292C=
c.19C=
c.1893C= (p.Phe631=)
n.127C=
c.1887C= (p.Phe629=)
21g.46001323C>GCA410533483COL6A1n.292C>G
c.19C>G
c.1893C>G (p.Phe631Leu)
n.127C>G
c.1887C>G (p.Phe629Leu)
 dbSNP gnomAD v3 gnomAD v4
21g.46001323C>TCA10070649COL6A1n.292C>T
c.19C>T
c.1893C>T (p.Phe631=)
n.127C>T
c.1887C>T (p.Phe629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001324G>ACA410533486COL6A1n.293G>A
c.20G>A
c.1894G>A (p.Glu632Lys)
n.128G>A
c.1888G>A (p.Glu630Lys)
 dbSNP gnomAD v2 gnomAD v4
21g.46001324G>CCA410533488COL6A1n.293G>C
c.20G>C
c.1894G>C (p.Glu632Gln)
n.128G>C
c.1888G>C (p.Glu630Gln)
21g.46001324G=CA2392440434COL6A1n.293G=
c.20G=
c.1894G= (p.Glu632=)
n.128G=
c.1888G= (p.Glu630=)
21g.46001324G>TCA410533490COL6A1n.293G>T
c.20G>T
c.1894G>T (p.Glu632Ter)
n.128G>T
c.1888G>T (p.Glu630Ter)
21g.46001325A>CCA410533493COL6A1n.294A>C
c.21A>C
c.1895A>C (p.Glu632Ala)
n.129A>C
c.1889A>C (p.Glu630Ala)
21g.46001325A>GCA410533497COL6A1n.294A>G
c.21A>G
c.1895A>G (p.Glu632Gly)
n.129A>G
c.1889A>G (p.Glu630Gly)
21g.46001325A>TCA410533495COL6A1n.294A>T
c.21A>T
c.1895A>T (p.Glu632Val)
n.129A>T
c.1889A>T (p.Glu630Val)
21g.46001326G>ACA512718622COL6A1n.295G>A
c.22G>A
c.1896G>A (p.Glu632=)
n.130G>A
c.1890G>A (p.Glu630=)
21g.46001326G>CCA410533498COL6A1n.295G>C
c.22G>C
c.1896G>C (p.Glu632Asp)
n.130G>C
c.1890G>C (p.Glu630Asp)
21g.46001326G>TCA410533501COL6A1n.295G>T
c.22G>T
c.1896G>T (p.Glu632Asp)
n.130G>T
c.1890G>T (p.Glu630Asp)
 gnomAD v4
21g.46001327A>CCA410533504COL6A1n.296A>C
c.23A>C
c.1897A>C (p.Ile633Leu)
n.131A>C
c.1891A>C (p.Ile631Leu)
21g.46001327A>GCA410533506COL6A1n.296A>G
c.23A>G
c.1897A>G (p.Ile633Val)
n.131A>G
c.1891A>G (p.Ile631Val)
21g.46001327A>TCA410533512COL6A1n.296A>T
c.23A>T
c.1897A>T (p.Ile633Phe)
n.131A>T
c.1891A>T (p.Ile631Phe)
21g.46001328T>ACA410533516COL6A1n.297T>A
c.24T>A
c.1898T>A (p.Ile633Asn)
n.132T>A
c.1892T>A (p.Ile631Asn)
21g.46001328T>CCA410533518COL6A1n.297T>C
c.24T>C
c.1898T>C (p.Ile633Thr)
n.132T>C
c.1892T>C (p.Ile631Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46001328T>GCA410533521COL6A1n.297T>G
c.24T>G
c.1898T>G (p.Ile633Ser)
n.132T>G
c.1892T>G (p.Ile631Ser)
21g.46001328T=CA2392440435COL6A1n.297T=
c.24T=
c.1898T= (p.Ile633=)
n.132T=
c.1892T= (p.Ile631=)
21g.46001329T>ACA512718623COL6A1n.298T>A
c.25T>A
c.1899T>A (p.Ile633=)
n.133T>A
c.1893T>A (p.Ile631=)
21g.46001329T>CCA512718624COL6A1n.298T>C
c.25T>C
c.1899T>C (p.Ile633=)
n.133T>C
c.1893T>C (p.Ile631=)
21g.46001329T>GCA410533526COL6A1n.298T>G
c.25T>G
c.1899T>G (p.Ile633Met)
n.133T>G
c.1893T>G (p.Ile631Met)
21g.46001330G>ACA410533529COL6A1n.299G>A
c.26G>A
c.1900G>A (p.Ala634Thr)
n.134G>A
c.1894G>A (p.Ala632Thr)
21g.46001330G>CCA410533531COL6A1n.299G>C
c.26G>C
c.1900G>C (p.Ala634Pro)
n.134G>C
c.1894G>C (p.Ala632Pro)
21g.46001330G>TCA410533532COL6A1n.299G>T
c.26G>T
c.1900G>T (p.Ala634Ser)
n.134G>T
c.1894G>T (p.Ala632Ser)
21g.46001331C>ACA410533536COL6A1n.300C>A
c.27C>A
c.1901C>A (p.Ala634Asp)
n.135C>A
c.1895C>A (p.Ala632Asp)
21g.46001331C=CA2392440436COL6A1n.300C=
c.27C=
c.1901C= (p.Ala634=)
n.135C=
c.1895C= (p.Ala632=)
21g.46001331C>GCA410533537COL6A1n.300C>G
c.27C>G
c.1901C>G (p.Ala634Gly)
n.135C>G
c.1895C>G (p.Ala632Gly)
21g.46001331C>TCA410533535COL6A1n.300C>T
c.27C>T
c.1901C>T (p.Ala634Val)
n.135C>T
c.1895C>T (p.Ala632Val)
 dbSNP
21g.46001332C>ACA512718625COL6A1n.301C>A
c.28C>A
c.1902C>A (p.Ala634=)
n.136C>A
c.1896C>A (p.Ala632=)
21g.46001332C>GCA512718626COL6A1n.301C>G
c.28C>G
c.1902C>G (p.Ala634=)
n.136C>G
c.1896C>G (p.Ala632=)
21g.46001332C>TCA512718627COL6A1n.301C>T
c.28C>T
c.1902C>T (p.Ala634=)
n.136C>T
c.1896C>T (p.Ala632=)
 gnomAD v4
21g.46001333A>CCA410533540COL6A1n.302A>C
c.29A>C
c.1903A>C (p.Lys635Gln)
n.137A>C
c.1897A>C (p.Lys633Gln)
21g.46001333A>GCA410533542COL6A1n.302A>G
c.29A>G
c.1903A>G (p.Lys635Glu)
n.137A>G
c.1897A>G (p.Lys633Glu)
21g.46001333A>TCA410533541COL6A1n.302A>T
c.29A>T
c.1903A>T (p.Lys635Ter)
n.137A>T
c.1897A>T (p.Lys633Ter)
21g.46001334A>CCA410533546COL6A1n.303A>C
c.30A>C
c.1904A>C (p.Lys635Thr)
n.138A>C
c.1898A>C (p.Lys633Thr)
21g.46001334A>GCA410533549COL6A1n.303A>G
c.30A>G
c.1904A>G (p.Lys635Arg)
n.138A>G
c.1898A>G (p.Lys633Arg)
 gnomAD v4
21g.46001334A>TCA410533551COL6A1n.303A>T
c.30A>T
c.1904A>T (p.Lys635Met)
n.138A>T
c.1898A>T (p.Lys633Met)
21g.46001335G>ACA512718628COL6A1n.304G>A
c.31G>A
c.1905G>A (p.Lys635=)
n.139G>A
c.1899G>A (p.Lys633=)
 dbSNP gnomAD v3 gnomAD v4
21g.46001335G>CCA410533554COL6A1n.304G>C
c.31G>C
c.1905G>C (p.Lys635Asn)
n.139G>C
c.1899G>C (p.Lys633Asn)
21g.46001335G=CA2392440437COL6A1n.304G=
c.31G=
c.1905G= (p.Lys635=)
n.139G=
c.1899G= (p.Lys633=)
21g.46001335G>TCA410533557COL6A1n.304G>T
c.31G>T
c.1905G>T (p.Lys635Asn)
n.139G>T
c.1899G>T (p.Lys633Asn)
 gnomAD v4
21g.46001336G>ACA10070650COL6A1n.305G>A
c.32G>A
c.1906G>A (p.Asp636Asn)
n.140G>A
c.1900G>A (p.Asp634Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001336G>CCA410533561COL6A1n.305G>C
c.32G>C
c.1906G>C (p.Asp636His)
n.140G>C
c.1900G>C (p.Asp634His)
21g.46001336G=CA2392440438COL6A1n.305G=
c.32G=
c.1906G= (p.Asp636=)
n.140G=
c.1900G= (p.Asp634=)
21g.46001336G>TCA410533564COL6A1n.305G>T
c.32G>T
c.1906G>T (p.Asp636Tyr)
n.140G>T
c.1900G>T (p.Asp634Tyr)
21g.46001337A=CA2392440439COL6A1n.306A=
c.33A=
c.1907A= (p.Asp636=)
n.141A=
c.1901A= (p.Asp634=)
21g.46001337A>CCA410533568COL6A1n.306A>C
c.33A>C
c.1907A>C (p.Asp636Ala)
n.141A>C
c.1901A>C (p.Asp634Ala)
21g.46001337A>GCA410533574COL6A1n.306A>G
c.33A>G
c.1907A>G (p.Asp636Gly)
n.141A>G
c.1901A>G (p.Asp634Gly)
21g.46001337A>TCA410533575COL6A1n.306A>T
c.33A>T
c.1907A>T (p.Asp636Val)
n.141A>T
c.1901A>T (p.Asp634Val)
 dbSNP gnomAD v2 gnomAD v4
21g.46001338C>ACA410533576COL6A1n.307C>A
c.34C>A
c.1908C>A (p.Asp636Glu)
n.142C>A
c.1902C>A (p.Asp634Glu)
21g.46001338C=CA2392440440COL6A1n.307C=
c.34C=
c.1908C= (p.Asp636=)
n.142C=
c.1902C= (p.Asp634=)
21g.46001338C>GCA10604415COL6A1n.307C>G
c.34C>G
c.1908C>G (p.Asp636Glu)
n.142C>G
c.1902C>G (p.Asp634Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.46001338C>TCA512718629COL6A1n.307C>T
c.34C>T
c.1908C>T (p.Asp636=)
n.142C>T
c.1902C>T (p.Asp634=)
 dbSNP gnomAD v3 gnomAD v4
21g.46001339T>ACA410533578COL6A1n.308T>A
c.35T>A
c.1909T>A (p.Phe637Ile)
n.143T>A
c.1903T>A (p.Phe635Ile)
21g.46001339T>CCA410533579COL6A1n.308T>C
c.35T>C
c.1909T>C (p.Phe637Leu)
n.143T>C
c.1903T>C (p.Phe635Leu)
21g.46001339T>GCA410533581COL6A1n.308T>G
c.35T>G
c.1909T>G (p.Phe637Val)
n.143T>G
c.1903T>G (p.Phe635Val)
 COSMIC
21g.46001340T>ACA410533585COL6A1n.309T>A
c.36T>A
c.1910T>A (p.Phe637Tyr)
n.144T>A
c.1904T>A (p.Phe635Tyr)
21g.46001340T>CCA410533586COL6A1n.309T>C
c.36T>C
c.1910T>C (p.Phe637Ser)
n.144T>C
c.1904T>C (p.Phe635Ser)
21g.46001340T>GCA410533587COL6A1n.309T>G
c.36T>G
c.1910T>G (p.Phe637Cys)
n.144T>G
c.1904T>G (p.Phe635Cys)
 gnomAD v4
21g.46001341C>ACA410533588COL6A1n.310C>A
c.37C>A
c.1911C>A (p.Phe637Leu)
n.145C>A
c.1905C>A (p.Phe635Leu)
 ClinVar dbSNP
21g.46001341C=CA2392440441COL6A1n.310C=
c.37C=
c.1911C= (p.Phe637=)
n.145C=
c.1905C= (p.Phe635=)
21g.46001341C>GCA410533589COL6A1n.310C>G
c.37C>G
c.1911C>G (p.Phe637Leu)
n.145C>G
c.1905C>G (p.Phe635Leu)
21g.46001341C>TCA10070651COL6A1n.310C>T
c.37C>T
c.1911C>T (p.Phe637=)
n.145C>T
c.1905C>T (p.Phe635=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001342G>ACA10070652COL6A1n.311G>A
c.38G>A
c.1912G>A (p.Val638Ile)
n.146G>A
c.1906G>A (p.Val636Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.46001342G>CCA410533591COL6A1n.311G>C
c.38G>C
c.1912G>C (p.Val638Leu)
n.146G>C
c.1906G>C (p.Val636Leu)
21g.46001342G=CA2392440442COL6A1n.311G=
c.38G=
c.1912G= (p.Val638=)
n.146G=
c.1906G= (p.Val636=)
21g.46001342G>TCA410533594COL6A1n.311G>T
c.38G>T
c.1912G>T (p.Val638Phe)
n.146G>T
c.1906G>T (p.Val636Phe)
21g.46001343T>ACA410533600COL6A1n.312T>A
c.39T>A
c.1913T>A (p.Val638Asp)
n.147T>A
c.1907T>A (p.Val636Asp)
21g.46001343T>CCA410533602COL6A1n.312T>C
c.39T>C
c.1913T>C (p.Val638Ala)
n.147T>C
c.1907T>C (p.Val636Ala)
 gnomAD v4
21g.46001343T>GCA410533598COL6A1n.312T>G
c.39T>G
c.1913T>G (p.Val638Gly)
n.147T>G
c.1907T>G (p.Val636Gly)
21g.46001344C>ACA512718630COL6A1n.313C>A
c.40C>A
c.1914C>A (p.Val638=)
n.148C>A
c.1908C>A (p.Val636=)
21g.46001344C=CA2392440443COL6A1n.313C=
c.40C=
c.1914C= (p.Val638=)
n.148C=
c.1908C= (p.Val636=)
21g.46001344C>GCA512718631COL6A1n.313C>G
c.40C>G
c.1914C>G (p.Val638=)
n.148C>G
c.1908C>G (p.Val636=)
21g.46001344C>TCA321975521COL6A1n.313C>T
c.40C>T
c.1914C>T (p.Val638=)
n.148C>T
c.1908C>T (p.Val636=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.46001345G>ACA10070653COL6A1n.314G>A
c.41G>A
c.1915G>A (p.Val639Ile)
n.149G>A
c.1909G>A (p.Val637Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001345G>CCA410533608COL6A1n.314G>C
c.41G>C
c.1915G>C (p.Val639Leu)
n.149G>C
c.1909G>C (p.Val637Leu)
21g.46001345G=CA2392440444COL6A1n.314G=
c.41G=
c.1915G= (p.Val639=)
n.149G=
c.1909G= (p.Val637=)
21g.46001345G>TCA321975525COL6A1n.314G>T
c.41G>T
c.1915G>T (p.Val639Phe)
n.149G>T
c.1909G>T (p.Val637Phe)
 dbSNP gnomAD v4
21g.46001346T>ACA410533613COL6A1n.315T>A
c.42T>A
c.1916T>A (p.Val639Asp)
n.150T>A
c.1910T>A (p.Val637Asp)
21g.46001346T>CCA410533616COL6A1n.315T>C
c.42T>C
c.1916T>C (p.Val639Ala)
n.150T>C
c.1910T>C (p.Val637Ala)
21g.46001346T>GCA410533618COL6A1n.315T>G
c.42T>G
c.1916T>G (p.Val639Gly)
n.150T>G
c.1910T>G (p.Val637Gly)
21g.46001347C>ACA512718634COL6A1n.316C>A
c.43C>A
c.1917C>A (p.Val639=)
n.151C>A
c.1911C>A (p.Val637=)
21g.46001347C>GCA512718632COL6A1n.316C>G
c.43C>G
c.1917C>G (p.Val639=)
n.151C>G
c.1911C>G (p.Val637=)
 gnomAD v4
21g.46001347C>TCA512718633COL6A1n.316C>T
c.43C>T
c.1917C>T (p.Val639=)
n.151C>T
c.1911C>T (p.Val637=)
21g.46001348A>CCA410533625COL6A1n.317A>C
c.44A>C
c.1918A>C (p.Lys640Gln)
n.152A>C
c.1912A>C (p.Lys638Gln)
21g.46001348A>GCA410533626COL6A1n.317A>G
c.44A>G
c.1918A>G (p.Lys640Glu)
n.152A>G
c.1912A>G (p.Lys638Glu)
21g.46001348A>TCA410533628COL6A1n.317A>T
c.44A>T
c.1918A>T (p.Lys640Ter)
n.152A>T
c.1912A>T (p.Lys638Ter)
21g.46001349A>CCA410533633COL6A1n.318A>C
c.45A>C
c.1919A>C (p.Lys640Thr)
n.153A>C
c.1913A>C (p.Lys638Thr)
21g.46001349A>GCA410533636COL6A1n.318A>G
c.45A>G
c.1919A>G (p.Lys640Arg)
n.153A>G
c.1913A>G (p.Lys638Arg)
21g.46001349A>TCA410533640COL6A1n.318A>T
c.45A>T
c.1919A>T (p.Lys640Met)
n.153A>T
c.1913A>T (p.Lys638Met)
21g.46001350G>ACA512718635COL6A1n.319G>A
c.46G>A
c.1920G>A (p.Lys640=)
n.154G>A
c.1914G>A (p.Lys638=)
 dbSNP
21g.46001350G>CCA410533649COL6A1n.319G>C
c.46G>C
c.1920G>C (p.Lys640Asn)
n.154G>C
c.1914G>C (p.Lys638Asn)
21g.46001350G>TCA410533645COL6A1n.319G>T
c.46G>T
c.1920G>T (p.Lys640Asn)
n.154G>T
c.1914G>T (p.Lys638Asn)
21g.46001351G>ACA410533650COL6A1n.320G>A
c.47G>A
c.1921G>A (p.Val641Ile)
n.155G>A
c.1915G>A (p.Val639Ile)
 dbSNP gnomAD v3 gnomAD v4
21g.46001351G>CCA410533651COL6A1n.320G>C
c.47G>C
c.1921G>C (p.Val641Leu)
n.155G>C
c.1915G>C (p.Val639Leu)
 gnomAD v4
21g.46001351G=CA2392440445COL6A1n.320G=
c.47G=
c.1921G= (p.Val641=)
n.155G=
c.1915G= (p.Val639=)
21g.46001351G>TCA410533652COL6A1n.320G>T
c.47G>T
c.1921G>T (p.Val641Phe)
n.155G>T
c.1915G>T (p.Val639Phe)
 gnomAD v4
21g.46001352T>ACA410533653COL6A1n.321T>A
c.48T>A
c.1922T>A (p.Val641Asp)
n.156T>A
c.1916T>A (p.Val639Asp)
21g.46001352T>CCA410533656COL6A1n.321T>C
c.48T>C
c.1922T>C (p.Val641Ala)
n.156T>C
c.1916T>C (p.Val639Ala)
21g.46001352T>GCA410533658COL6A1n.321T>G
c.48T>G
c.1922T>G (p.Val641Gly)
n.156T>G
c.1916T>G (p.Val639Gly)
 gnomAD v4
21g.46001353C>ACA512718636COL6A1n.322C>A
c.49C>A
c.1923C>A (p.Val641=)
n.157C>A
c.1917C>A (p.Val639=)
21g.46001353C>GCA512718637COL6A1n.322C>G
c.49C>G
c.1923C>G (p.Val641=)
n.157C>G
c.1917C>G (p.Val639=)
21g.46001353C>TCA512718638COL6A1n.322C>T
c.49C>T
c.1923C>T (p.Val641=)
n.157C>T
c.1917C>T (p.Val639=)
21g.46001354A>CCA410533668COL6A1n.323A>C
c.50A>C
c.1924A>C (p.Ile642Leu)
n.158A>C
c.1918A>C (p.Ile640Leu)
21g.46001354A>GCA410533662COL6A1n.323A>G
c.50A>G
c.1924A>G (p.Ile642Val)
n.158A>G
c.1918A>G (p.Ile640Val)
21g.46001354A>TCA410533665COL6A1n.323A>T
c.50A>T
c.1924A>T (p.Ile642Phe)
n.158A>T
c.1918A>T (p.Ile640Phe)
21g.46001355T>ACA410533671COL6A1n.324T>A
c.51T>A
c.1925T>A (p.Ile642Asn)
n.159T>A
c.1919T>A (p.Ile640Asn)
 gnomAD v4
21g.46001355T>CCA410533672COL6A1n.324T>C
c.51T>C
c.1925T>C (p.Ile642Thr)
n.159T>C
c.1919T>C (p.Ile640Thr)
21g.46001355T>GCA410533673COL6A1n.324T>G
c.51T>G
c.1925T>G (p.Ile642Ser)
n.159T>G
c.1919T>G (p.Ile640Ser)
21g.46001356C>ACA512718640COL6A1n.325C>A
c.52C>A
c.1926C>A (p.Ile642=)
n.160C>A
c.1920C>A (p.Ile640=)
21g.46001356C=CA2392440446COL6A1n.325C=
c.52C=
c.1926C= (p.Ile642=)
n.160C=
c.1920C= (p.Ile640=)
21g.46001356C>GCA410533675COL6A1n.325C>G
c.52C>G
c.1926C>G (p.Ile642Met)
n.160C>G
c.1920C>G (p.Ile640Met)
21g.46001356C>TCA10070654COL6A1n.325C>T
c.52C>T
c.1926C>T (p.Ile642=)
n.160C>T
c.1920C>T (p.Ile640=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.46001357G>ACA321975542COL6A1n.326G>A
c.53G>A
c.1927G>A (p.Asp643Asn)
n.161G>A
c.1921G>A (p.Asp641Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.46001357G>CCA410533685COL6A1n.326G>C
c.53G>C
c.1927G>C (p.Asp643His)
n.161G>C
c.1921G>C (p.Asp641His)
21g.46001357G=CA2392440447COL6A1n.326G=
c.53G=
c.1927G= (p.Asp643=)
n.161G=
c.1921G= (p.Asp641=)
21g.46001357G>TCA410533682COL6A1n.326G>T
c.53G>T
c.1927G>T (p.Asp643Tyr)
n.161G>T
c.1921G>T (p.Asp641Tyr)
 gnomAD v4

Number of alleles fetched