Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched