Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237334578T>CCA766621470COL6A3c.1611-1030A>G
c.8611+48A>G (n.8611+48A>G)
c.1356+48A>G
c.97+48A>G (n.97+48A>G)
c.9229+48A>G (n.9229+48A>G)
c.7405+48A>G (n.7405+48A>G)
c.7408+48A>G (n.7408+48A>G)
n.5671+48A>G
n.161+48A>G
c.8629+48A>G (n.8629+48A>G)
c.8008+48A>G (n.8008+48A>G)
c.8728+48A>G (n.8728+48A>G)
c.9226+48A>G (n.9226+48A>G)
c.6823+48A>G (n.6823+48A>G)
 dbSNP
2g.237334578T=CA1337606353COL6A3c.1611-1030A=
c.8611+48A= (n.8611+48A=)
c.1356+48A=
c.97+48A= (n.97+48A=)
c.9229+48A= (n.9229+48A=)
c.7405+48A= (n.7405+48A=)
c.7408+48A= (n.7408+48A=)
n.5671+48A=
n.161+48A=
c.8629+48A= (n.8629+48A=)
c.8008+48A= (n.8008+48A=)
c.8728+48A= (n.8728+48A=)
c.9226+48A= (n.9226+48A=)
c.6823+48A= (n.6823+48A=)
2g.237334580C>TCA2577289247COL6A3c.1611-1032G>A
c.8611+46G>A (n.8611+46G>A)
c.1356+46G>A
c.97+46G>A (n.97+46G>A)
c.9229+46G>A (n.9229+46G>A)
c.7405+46G>A (n.7405+46G>A)
c.7408+46G>A (n.7408+46G>A)
n.5671+46G>A
n.161+46G>A
c.8629+46G>A (n.8629+46G>A)
c.8008+46G>A (n.8008+46G>A)
c.8728+46G>A (n.8728+46G>A)
c.9226+46G>A (n.9226+46G>A)
c.6823+46G>A (n.6823+46G>A)
2g.237334582C>ACA1337606355COL6A3c.1611-1034G>T
c.8611+44G>T (n.8611+44G>T)
c.1356+44G>T
c.97+44G>T (n.97+44G>T)
c.9229+44G>T (n.9229+44G>T)
c.7405+44G>T (n.7405+44G>T)
c.7408+44G>T (n.7408+44G>T)
n.5671+44G>T
n.161+44G>T
c.8629+44G>T (n.8629+44G>T)
c.8008+44G>T (n.8008+44G>T)
c.8728+44G>T (n.8728+44G>T)
c.9226+44G>T (n.9226+44G>T)
c.6823+44G>T (n.6823+44G>T)
 dbSNP gnomAD v4
2g.237334582C=CA1337606354COL6A3c.1611-1034G=
c.8611+44G= (n.8611+44G=)
c.1356+44G=
c.97+44G= (n.97+44G=)
c.9229+44G= (n.9229+44G=)
c.7405+44G= (n.7405+44G=)
c.7408+44G= (n.7408+44G=)
n.5671+44G=
n.161+44G=
c.8629+44G= (n.8629+44G=)
c.8008+44G= (n.8008+44G=)
c.8728+44G= (n.8728+44G=)
c.9226+44G= (n.9226+44G=)
c.6823+44G= (n.6823+44G=)
2g.237334582C>GCA2187322COL6A3c.1611-1034G>C
c.8611+44G>C (n.8611+44G>C)
c.1356+44G>C
c.97+44G>C (n.97+44G>C)
c.9229+44G>C (n.9229+44G>C)
c.7405+44G>C (n.7405+44G>C)
c.7408+44G>C (n.7408+44G>C)
n.5671+44G>C
n.161+44G>C
c.8629+44G>C (n.8629+44G>C)
c.8008+44G>C (n.8008+44G>C)
c.8728+44G>C (n.8728+44G>C)
c.9226+44G>C (n.9226+44G>C)
c.6823+44G>C (n.6823+44G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334582C>TCA2663791811COL6A3c.1611-1034G>A
c.8611+44G>A (n.8611+44G>A)
c.1356+44G>A
c.97+44G>A (n.97+44G>A)
c.9229+44G>A (n.9229+44G>A)
c.7405+44G>A (n.7405+44G>A)
c.7408+44G>A (n.7408+44G>A)
n.5671+44G>A
n.161+44G>A
c.8629+44G>A (n.8629+44G>A)
c.8008+44G>A (n.8008+44G>A)
c.8728+44G>A (n.8728+44G>A)
c.9226+44G>A (n.9226+44G>A)
c.6823+44G>A (n.6823+44G>A)
 gnomAD v4
2g.237334586A=CA1337606356COL6A3c.1611-1038T=
c.8611+40T= (n.8611+40T=)
c.1356+40T=
c.97+40T= (n.97+40T=)
c.9229+40T= (n.9229+40T=)
c.7405+40T= (n.7405+40T=)
c.7408+40T= (n.7408+40T=)
n.5671+40T=
n.161+40T=
c.8629+40T= (n.8629+40T=)
c.8008+40T= (n.8008+40T=)
c.8728+40T= (n.8728+40T=)
c.9226+40T= (n.9226+40T=)
c.6823+40T= (n.6823+40T=)
2g.237334586A>GCA2187323COL6A3c.1611-1038T>C
c.8611+40T>C (n.8611+40T>C)
c.1356+40T>C
c.97+40T>C (n.97+40T>C)
c.9229+40T>C (n.9229+40T>C)
c.7405+40T>C (n.7405+40T>C)
c.7408+40T>C (n.7408+40T>C)
n.5671+40T>C
n.161+40T>C
c.8629+40T>C (n.8629+40T>C)
c.8008+40T>C (n.8008+40T>C)
c.8728+40T>C (n.8728+40T>C)
c.9226+40T>C (n.9226+40T>C)
c.6823+40T>C (n.6823+40T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334586A>TCA766621476COL6A3c.1611-1038T>A
c.8611+40T>A (n.8611+40T>A)
c.1356+40T>A
c.97+40T>A (n.97+40T>A)
c.9229+40T>A (n.9229+40T>A)
c.7405+40T>A (n.7405+40T>A)
c.7408+40T>A (n.7408+40T>A)
n.5671+40T>A
n.161+40T>A
c.8629+40T>A (n.8629+40T>A)
c.8008+40T>A (n.8008+40T>A)
c.8728+40T>A (n.8728+40T>A)
c.9226+40T>A (n.9226+40T>A)
c.6823+40T>A (n.6823+40T>A)
 dbSNP
2g.237334587T>ACA2577289248COL6A3c.1611-1039A>T
c.8611+39A>T (n.8611+39A>T)
c.1356+39A>T
c.97+39A>T (n.97+39A>T)
c.9229+39A>T (n.9229+39A>T)
c.7405+39A>T (n.7405+39A>T)
c.7408+39A>T (n.7408+39A>T)
n.5671+39A>T
n.161+39A>T
c.8629+39A>T (n.8629+39A>T)
c.8008+39A>T (n.8008+39A>T)
c.8728+39A>T (n.8728+39A>T)
c.9226+39A>T (n.9226+39A>T)
c.6823+39A>T (n.6823+39A>T)
 gnomAD v4
2g.237334587T>CCA540749756COL6A3c.1611-1039A>G
c.8611+39A>G (n.8611+39A>G)
c.1356+39A>G
c.97+39A>G (n.97+39A>G)
c.9229+39A>G (n.9229+39A>G)
c.7405+39A>G (n.7405+39A>G)
c.7408+39A>G (n.7408+39A>G)
n.5671+39A>G
n.161+39A>G
c.8629+39A>G (n.8629+39A>G)
c.8008+39A>G (n.8008+39A>G)
c.8728+39A>G (n.8728+39A>G)
c.9226+39A>G (n.9226+39A>G)
c.6823+39A>G (n.6823+39A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.237334587T=CA1337606357COL6A3c.1611-1039A=
c.8611+39A= (n.8611+39A=)
c.1356+39A=
c.97+39A= (n.97+39A=)
c.9229+39A= (n.9229+39A=)
c.7405+39A= (n.7405+39A=)
c.7408+39A= (n.7408+39A=)
n.5671+39A=
n.161+39A=
c.8629+39A= (n.8629+39A=)
c.8008+39A= (n.8008+39A=)
c.8728+39A= (n.8728+39A=)
c.9226+39A= (n.9226+39A=)
c.6823+39A= (n.6823+39A=)
2g.237334588A=CA1337606358COL6A3c.1611-1040T=
c.8611+38T= (n.8611+38T=)
c.1356+38T=
c.97+38T= (n.97+38T=)
c.9229+38T= (n.9229+38T=)
c.7405+38T= (n.7405+38T=)
c.7408+38T= (n.7408+38T=)
n.5671+38T=
n.161+38T=
c.8629+38T= (n.8629+38T=)
c.8008+38T= (n.8008+38T=)
c.8728+38T= (n.8728+38T=)
c.9226+38T= (n.9226+38T=)
c.6823+38T= (n.6823+38T=)
2g.237334588A>GCA2663791812COL6A3c.1611-1040T>C
c.8611+38T>C (n.8611+38T>C)
c.1356+38T>C
c.97+38T>C (n.97+38T>C)
c.9229+38T>C (n.9229+38T>C)
c.7405+38T>C (n.7405+38T>C)
c.7408+38T>C (n.7408+38T>C)
n.5671+38T>C
n.161+38T>C
c.8629+38T>C (n.8629+38T>C)
c.8008+38T>C (n.8008+38T>C)
c.8728+38T>C (n.8728+38T>C)
c.9226+38T>C (n.9226+38T>C)
c.6823+38T>C (n.6823+38T>C)
 gnomAD v4
2g.237334588A>TCA766621484COL6A3c.1611-1040T>A
c.8611+38T>A (n.8611+38T>A)
c.1356+38T>A
c.97+38T>A (n.97+38T>A)
c.9229+38T>A (n.9229+38T>A)
c.7405+38T>A (n.7405+38T>A)
c.7408+38T>A (n.7408+38T>A)
n.5671+38T>A
n.161+38T>A
c.8629+38T>A (n.8629+38T>A)
c.8008+38T>A (n.8008+38T>A)
c.8728+38T>A (n.8728+38T>A)
c.9226+38T>A (n.9226+38T>A)
c.6823+38T>A (n.6823+38T>A)
 dbSNP
2g.237334592delCA2577289249COL6A3c.1611-1042del
c.8611+36del (n.8611+36del)
c.1356+36del
c.97+36del (n.97+36del)
c.9229+36del (n.9229+36del)
c.7405+36del (n.7405+36del)
c.7408+36del (n.7408+36del)
n.5671+36del
n.161+36del
c.8629+36del (n.8629+36del)
c.8008+36del (n.8008+36del)
c.8728+36del (n.8728+36del)
c.9226+36del (n.9226+36del)
c.6823+36del (n.6823+36del)
2g.237334595A=CA1337606359COL6A3c.1611-1047T=
c.8611+31T= (n.8611+31T=)
c.1356+31T=
c.97+31T= (n.97+31T=)
c.9229+31T= (n.9229+31T=)
c.7405+31T= (n.7405+31T=)
c.7408+31T= (n.7408+31T=)
n.5671+31T=
n.161+31T=
c.8629+31T= (n.8629+31T=)
c.8008+31T= (n.8008+31T=)
c.8728+31T= (n.8728+31T=)
c.9226+31T= (n.9226+31T=)
c.6823+31T= (n.6823+31T=)
2g.237334595A>CCA2577289250COL6A3c.1611-1047T>G
c.8611+31T>G (n.8611+31T>G)
c.1356+31T>G
c.97+31T>G (n.97+31T>G)
c.9229+31T>G (n.9229+31T>G)
c.7405+31T>G (n.7405+31T>G)
c.7408+31T>G (n.7408+31T>G)
n.5671+31T>G
n.161+31T>G
c.8629+31T>G (n.8629+31T>G)
c.8008+31T>G (n.8008+31T>G)
c.8728+31T>G (n.8728+31T>G)
c.9226+31T>G (n.9226+31T>G)
c.6823+31T>G (n.6823+31T>G)
 gnomAD v4
2g.237334595A>GCA540749757COL6A3c.1611-1047T>C
c.8611+31T>C (n.8611+31T>C)
c.1356+31T>C
c.97+31T>C (n.97+31T>C)
c.9229+31T>C (n.9229+31T>C)
c.7405+31T>C (n.7405+31T>C)
c.7408+31T>C (n.7408+31T>C)
n.5671+31T>C
n.161+31T>C
c.8629+31T>C (n.8629+31T>C)
c.8008+31T>C (n.8008+31T>C)
c.8728+31T>C (n.8728+31T>C)
c.9226+31T>C (n.9226+31T>C)
c.6823+31T>C (n.6823+31T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334596G>ACA2663791813COL6A3c.1611-1048C>T
c.8611+30C>T (n.8611+30C>T)
c.1356+30C>T
c.97+30C>T (n.97+30C>T)
c.9229+30C>T (n.9229+30C>T)
c.7405+30C>T (n.7405+30C>T)
c.7408+30C>T (n.7408+30C>T)
n.5671+30C>T
n.161+30C>T
c.8629+30C>T (n.8629+30C>T)
c.8008+30C>T (n.8008+30C>T)
c.8728+30C>T (n.8728+30C>T)
c.9226+30C>T (n.9226+30C>T)
c.6823+30C>T (n.6823+30C>T)
 gnomAD v4
2g.237334596G>CCA766621491COL6A3c.1611-1048C>G
c.8611+30C>G (n.8611+30C>G)
c.1356+30C>G
c.97+30C>G (n.97+30C>G)
c.9229+30C>G (n.9229+30C>G)
c.7405+30C>G (n.7405+30C>G)
c.7408+30C>G (n.7408+30C>G)
n.5671+30C>G
n.161+30C>G
c.8629+30C>G (n.8629+30C>G)
c.8008+30C>G (n.8008+30C>G)
c.8728+30C>G (n.8728+30C>G)
c.9226+30C>G (n.9226+30C>G)
c.6823+30C>G (n.6823+30C>G)
 dbSNP gnomAD v4
2g.237334596G=CA1337606360COL6A3c.1611-1048C=
c.8611+30C= (n.8611+30C=)
c.1356+30C=
c.97+30C= (n.97+30C=)
c.9229+30C= (n.9229+30C=)
c.7405+30C= (n.7405+30C=)
c.7408+30C= (n.7408+30C=)
n.5671+30C=
n.161+30C=
c.8629+30C= (n.8629+30C=)
c.8008+30C= (n.8008+30C=)
c.8728+30C= (n.8728+30C=)
c.9226+30C= (n.9226+30C=)
c.6823+30C= (n.6823+30C=)
2g.237334597G>ACA2577289251COL6A3c.1611-1049C>T
c.8611+29C>T (n.8611+29C>T)
c.1356+29C>T
c.97+29C>T (n.97+29C>T)
c.9229+29C>T (n.9229+29C>T)
c.7405+29C>T (n.7405+29C>T)
c.7408+29C>T (n.7408+29C>T)
n.5671+29C>T
n.161+29C>T
c.8629+29C>T (n.8629+29C>T)
c.8008+29C>T (n.8008+29C>T)
c.8728+29C>T (n.8728+29C>T)
c.9226+29C>T (n.9226+29C>T)
c.6823+29C>T (n.6823+29C>T)
 gnomAD v4
2g.237334597G>CCA2754786567COL6A3c.1611-1049C>G
c.8611+29C>G (n.8611+29C>G)
c.1356+29C>G
c.97+29C>G (n.97+29C>G)
c.9229+29C>G (n.9229+29C>G)
c.7405+29C>G (n.7405+29C>G)
c.7408+29C>G (n.7408+29C>G)
n.5671+29C>G
n.161+29C>G
c.8629+29C>G (n.8629+29C>G)
c.8008+29C>G (n.8008+29C>G)
c.8728+29C>G (n.8728+29C>G)
c.9226+29C>G (n.9226+29C>G)
c.6823+29C>G (n.6823+29C>G)
2g.237334597G=CA1337606361COL6A3c.1611-1049C=
c.8611+29C= (n.8611+29C=)
c.1356+29C=
c.97+29C= (n.97+29C=)
c.9229+29C= (n.9229+29C=)
c.7405+29C= (n.7405+29C=)
c.7408+29C= (n.7408+29C=)
n.5671+29C=
n.161+29C=
c.8629+29C= (n.8629+29C=)
c.8008+29C= (n.8008+29C=)
c.8728+29C= (n.8728+29C=)
c.9226+29C= (n.9226+29C=)
c.6823+29C= (n.6823+29C=)
2g.237334598T>CCA1043805238COL6A3c.1611-1050A>G
c.8611+28A>G (n.8611+28A>G)
c.1356+28A>G
c.97+28A>G (n.97+28A>G)
c.9229+28A>G (n.9229+28A>G)
c.7405+28A>G (n.7405+28A>G)
c.7408+28A>G (n.7408+28A>G)
n.5671+28A>G
n.161+28A>G
c.8629+28A>G (n.8629+28A>G)
c.8008+28A>G (n.8008+28A>G)
c.8728+28A>G (n.8728+28A>G)
c.9226+28A>G (n.9226+28A>G)
c.6823+28A>G (n.6823+28A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237334598T=CA1337606362COL6A3c.1611-1050A=
c.8611+28A= (n.8611+28A=)
c.1356+28A=
c.97+28A= (n.97+28A=)
c.9229+28A= (n.9229+28A=)
c.7405+28A= (n.7405+28A=)
c.7408+28A= (n.7408+28A=)
n.5671+28A=
n.161+28A=
c.8629+28A= (n.8629+28A=)
c.8008+28A= (n.8008+28A=)
c.8728+28A= (n.8728+28A=)
c.9226+28A= (n.9226+28A=)
c.6823+28A= (n.6823+28A=)
2g.237334598_237334599dupCA540749758COL6A3c.1611-1051_1611-1050dup
c.8611+27_8611+28dup (n.8611+27_8611+28dup)
c.1356+27_1356+28dup
c.97+27_97+28dup (n.97+27_97+28dup)
c.9229+27_9229+28dup (n.9229+27_9229+28dup)
c.7405+27_7405+28dup (n.7405+27_7405+28dup)
c.7408+27_7408+28dup (n.7408+27_7408+28dup)
n.5671+27_5671+28dup
n.161+27_161+28dup
c.8629+27_8629+28dup (n.8629+27_8629+28dup)
c.8008+27_8008+28dup (n.8008+27_8008+28dup)
c.8728+27_8728+28dup (n.8728+27_8728+28dup)
c.9226+27_9226+28dup (n.9226+27_9226+28dup)
c.6823+27_6823+28dup (n.6823+27_6823+28dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334599A=CA1337606363COL6A3c.1611-1051T=
c.8611+27T= (n.8611+27T=)
c.1356+27T=
c.97+27T= (n.97+27T=)
c.9229+27T= (n.9229+27T=)
c.7405+27T= (n.7405+27T=)
c.7408+27T= (n.7408+27T=)
n.5671+27T=
n.161+27T=
c.8629+27T= (n.8629+27T=)
c.8008+27T= (n.8008+27T=)
c.8728+27T= (n.8728+27T=)
c.9226+27T= (n.9226+27T=)
c.6823+27T= (n.6823+27T=)
2g.237334599A>CCA540749759COL6A3c.1611-1051T>G
c.8611+27T>G (n.8611+27T>G)
c.1356+27T>G
c.97+27T>G (n.97+27T>G)
c.9229+27T>G (n.9229+27T>G)
c.7405+27T>G (n.7405+27T>G)
c.7408+27T>G (n.7408+27T>G)
n.5671+27T>G
n.161+27T>G
c.8629+27T>G (n.8629+27T>G)
c.8008+27T>G (n.8008+27T>G)
c.8728+27T>G (n.8728+27T>G)
c.9226+27T>G (n.9226+27T>G)
c.6823+27T>G (n.6823+27T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334600C=CA1337606364COL6A3c.1611-1052G=
c.8611+26G= (n.8611+26G=)
c.1356+26G=
c.97+26G= (n.97+26G=)
c.9229+26G= (n.9229+26G=)
c.7405+26G= (n.7405+26G=)
c.7408+26G= (n.7408+26G=)
n.5671+26G=
n.161+26G=
c.8629+26G= (n.8629+26G=)
c.8008+26G= (n.8008+26G=)
c.8728+26G= (n.8728+26G=)
c.9226+26G= (n.9226+26G=)
c.6823+26G= (n.6823+26G=)
2g.237334600C>TCA2187324COL6A3c.1611-1052G>A
c.8611+26G>A (n.8611+26G>A)
c.1356+26G>A
c.97+26G>A (n.97+26G>A)
c.9229+26G>A (n.9229+26G>A)
c.7405+26G>A (n.7405+26G>A)
c.7408+26G>A (n.7408+26G>A)
n.5671+26G>A
n.161+26G>A
c.8629+26G>A (n.8629+26G>A)
c.8008+26G>A (n.8008+26G>A)
c.8728+26G>A (n.8728+26G>A)
c.9226+26G>A (n.9226+26G>A)
c.6823+26G>A (n.6823+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334601C>ACA2663791814COL6A3c.1611-1053G>T
c.8611+25G>T (n.8611+25G>T)
c.1356+25G>T
c.97+25G>T (n.97+25G>T)
c.9229+25G>T (n.9229+25G>T)
c.7405+25G>T (n.7405+25G>T)
c.7408+25G>T (n.7408+25G>T)
n.5671+25G>T
n.161+25G>T
c.8629+25G>T (n.8629+25G>T)
c.8008+25G>T (n.8008+25G>T)
c.8728+25G>T (n.8728+25G>T)
c.9226+25G>T (n.9226+25G>T)
c.6823+25G>T (n.6823+25G>T)
 gnomAD v4
2g.237334601C=CA1337606365COL6A3c.1611-1053G=
c.8611+25G= (n.8611+25G=)
c.1356+25G=
c.97+25G= (n.97+25G=)
c.9229+25G= (n.9229+25G=)
c.7405+25G= (n.7405+25G=)
c.7408+25G= (n.7408+25G=)
n.5671+25G=
n.161+25G=
c.8629+25G= (n.8629+25G=)
c.8008+25G= (n.8008+25G=)
c.8728+25G= (n.8728+25G=)
c.9226+25G= (n.9226+25G=)
c.6823+25G= (n.6823+25G=)
2g.237334601C>TCA540749760COL6A3c.1611-1053G>A
c.8611+25G>A (n.8611+25G>A)
c.1356+25G>A
c.97+25G>A (n.97+25G>A)
c.9229+25G>A (n.9229+25G>A)
c.7405+25G>A (n.7405+25G>A)
c.7408+25G>A (n.7408+25G>A)
n.5671+25G>A
n.161+25G>A
c.8629+25G>A (n.8629+25G>A)
c.8008+25G>A (n.8008+25G>A)
c.8728+25G>A (n.8728+25G>A)
c.9226+25G>A (n.9226+25G>A)
c.6823+25G>A (n.6823+25G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334602G>ACA2187325COL6A3c.1611-1054C>T
c.8611+24C>T (n.8611+24C>T)
c.1356+24C>T
c.97+24C>T (n.97+24C>T)
c.9229+24C>T (n.9229+24C>T)
c.7405+24C>T (n.7405+24C>T)
c.7408+24C>T (n.7408+24C>T)
n.5671+24C>T
n.161+24C>T
c.8629+24C>T (n.8629+24C>T)
c.8008+24C>T (n.8008+24C>T)
c.8728+24C>T (n.8728+24C>T)
c.9226+24C>T (n.9226+24C>T)
c.6823+24C>T (n.6823+24C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334602G=CA1337606366COL6A3c.1611-1054C=
c.8611+24C= (n.8611+24C=)
c.1356+24C=
c.97+24C= (n.97+24C=)
c.9229+24C= (n.9229+24C=)
c.7405+24C= (n.7405+24C=)
c.7408+24C= (n.7408+24C=)
n.5671+24C=
n.161+24C=
c.8629+24C= (n.8629+24C=)
c.8008+24C= (n.8008+24C=)
c.8728+24C= (n.8728+24C=)
c.9226+24C= (n.9226+24C=)
c.6823+24C= (n.6823+24C=)
2g.237334602G>TCA2663791815COL6A3c.1611-1054C>A
c.8611+24C>A (n.8611+24C>A)
c.1356+24C>A
c.97+24C>A (n.97+24C>A)
c.9229+24C>A (n.9229+24C>A)
c.7405+24C>A (n.7405+24C>A)
c.7408+24C>A (n.7408+24C>A)
n.5671+24C>A
n.161+24C>A
c.8629+24C>A (n.8629+24C>A)
c.8008+24C>A (n.8008+24C>A)
c.8728+24C>A (n.8728+24C>A)
c.9226+24C>A (n.9226+24C>A)
c.6823+24C>A (n.6823+24C>A)
 gnomAD v4
2g.237334604C>TCA2663791816COL6A3c.1611-1056G>A
c.8611+22G>A (n.8611+22G>A)
c.1356+22G>A
c.97+22G>A (n.97+22G>A)
c.9229+22G>A (n.9229+22G>A)
c.7405+22G>A (n.7405+22G>A)
c.7408+22G>A (n.7408+22G>A)
n.5671+22G>A
n.161+22G>A
c.8629+22G>A (n.8629+22G>A)
c.8008+22G>A (n.8008+22G>A)
c.8728+22G>A (n.8728+22G>A)
c.9226+22G>A (n.9226+22G>A)
c.6823+22G>A (n.6823+22G>A)
 gnomAD v4
2g.237334606T>CCA2754786570COL6A3c.1611-1058A>G
c.8611+20A>G (n.8611+20A>G)
c.1356+20A>G
c.97+20A>G (n.97+20A>G)
c.9229+20A>G (n.9229+20A>G)
c.7405+20A>G (n.7405+20A>G)
c.7408+20A>G (n.7408+20A>G)
n.5671+20A>G
n.161+20A>G
c.8629+20A>G (n.8629+20A>G)
c.8008+20A>G (n.8008+20A>G)
c.8728+20A>G (n.8728+20A>G)
c.9226+20A>G (n.9226+20A>G)
c.6823+20A>G (n.6823+20A>G)
2g.237334612G>ACA540749761COL6A3c.1611-1064C>T
c.8611+14C>T (n.8611+14C>T)
c.1356+14C>T
c.97+14C>T (n.97+14C>T)
c.9229+14C>T (n.9229+14C>T)
c.7405+14C>T (n.7405+14C>T)
c.7408+14C>T (n.7408+14C>T)
n.5671+14C>T
n.161+14C>T
c.8629+14C>T (n.8629+14C>T)
c.8008+14C>T (n.8008+14C>T)
c.8728+14C>T (n.8728+14C>T)
c.9226+14C>T (n.9226+14C>T)
c.6823+14C>T (n.6823+14C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237334612G>CCA1337606368COL6A3c.1611-1064C>G
c.8611+14C>G (n.8611+14C>G)
c.1356+14C>G
c.97+14C>G (n.97+14C>G)
c.9229+14C>G (n.9229+14C>G)
c.7405+14C>G (n.7405+14C>G)
c.7408+14C>G (n.7408+14C>G)
n.5671+14C>G
n.161+14C>G
c.8629+14C>G (n.8629+14C>G)
c.8008+14C>G (n.8008+14C>G)
c.8728+14C>G (n.8728+14C>G)
c.9226+14C>G (n.9226+14C>G)
c.6823+14C>G (n.6823+14C>G)
 dbSNP gnomAD v4
2g.237334612G=CA1337606367COL6A3c.1611-1064C=
c.8611+14C= (n.8611+14C=)
c.1356+14C=
c.97+14C= (n.97+14C=)
c.9229+14C= (n.9229+14C=)
c.7405+14C= (n.7405+14C=)
c.7408+14C= (n.7408+14C=)
n.5671+14C=
n.161+14C=
c.8629+14C= (n.8629+14C=)
c.8008+14C= (n.8008+14C=)
c.8728+14C= (n.8728+14C=)
c.9226+14C= (n.9226+14C=)
c.6823+14C= (n.6823+14C=)
2g.237334612G>TCA2663791817COL6A3c.1611-1064C>A
c.8611+14C>A (n.8611+14C>A)
c.1356+14C>A
c.97+14C>A (n.97+14C>A)
c.9229+14C>A (n.9229+14C>A)
c.7405+14C>A (n.7405+14C>A)
c.7408+14C>A (n.7408+14C>A)
n.5671+14C>A
n.161+14C>A
c.8629+14C>A (n.8629+14C>A)
c.8008+14C>A (n.8008+14C>A)
c.8728+14C>A (n.8728+14C>A)
c.9226+14C>A (n.9226+14C>A)
c.6823+14C>A (n.6823+14C>A)
 gnomAD v4
2g.237334614T>CCA2754786573COL6A3c.1611-1066A>G
c.8611+12A>G (n.8611+12A>G)
c.1356+12A>G
c.97+12A>G (n.97+12A>G)
c.9229+12A>G (n.9229+12A>G)
c.7405+12A>G (n.7405+12A>G)
c.7408+12A>G (n.7408+12A>G)
n.5671+12A>G
n.161+12A>G
c.8629+12A>G (n.8629+12A>G)
c.8008+12A>G (n.8008+12A>G)
c.8728+12A>G (n.8728+12A>G)
c.9226+12A>G (n.9226+12A>G)
c.6823+12A>G (n.6823+12A>G)
2g.237334614T>GCA540749762COL6A3c.1611-1066A>C
c.8611+12A>C (n.8611+12A>C)
c.1356+12A>C
c.97+12A>C (n.97+12A>C)
c.9229+12A>C (n.9229+12A>C)
c.7405+12A>C (n.7405+12A>C)
c.7408+12A>C (n.7408+12A>C)
n.5671+12A>C
n.161+12A>C
c.8629+12A>C (n.8629+12A>C)
c.8008+12A>C (n.8008+12A>C)
c.8728+12A>C (n.8728+12A>C)
c.9226+12A>C (n.9226+12A>C)
c.6823+12A>C (n.6823+12A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.237334614T=CA1337606369COL6A3c.1611-1066A=
c.8611+12A= (n.8611+12A=)
c.1356+12A=
c.97+12A= (n.97+12A=)
c.9229+12A= (n.9229+12A=)
c.7405+12A= (n.7405+12A=)
c.7408+12A= (n.7408+12A=)
n.5671+12A=
n.161+12A=
c.8629+12A= (n.8629+12A=)
c.8008+12A= (n.8008+12A=)
c.8728+12A= (n.8728+12A=)
c.9226+12A= (n.9226+12A=)
c.6823+12A= (n.6823+12A=)
2g.237334615C>TCA2577289252COL6A3c.1611-1067G>A
c.8611+11G>A (n.8611+11G>A)
c.1356+11G>A
c.97+11G>A (n.97+11G>A)
c.9229+11G>A (n.9229+11G>A)
c.7405+11G>A (n.7405+11G>A)
c.7408+11G>A (n.7408+11G>A)
n.5671+11G>A
n.161+11G>A
c.8629+11G>A (n.8629+11G>A)
c.8008+11G>A (n.8008+11G>A)
c.8728+11G>A (n.8728+11G>A)
c.9226+11G>A (n.9226+11G>A)
c.6823+11G>A (n.6823+11G>A)
 gnomAD v4
2g.237334617T>GCA1043805248COL6A3c.1611-1069A>C
c.8611+9A>C (n.8611+9A>C)
c.1356+9A>C
c.97+9A>C (n.97+9A>C)
c.9229+9A>C (n.9229+9A>C)
c.7405+9A>C (n.7405+9A>C)
c.7408+9A>C (n.7408+9A>C)
n.5671+9A>C
n.161+9A>C
c.8629+9A>C (n.8629+9A>C)
c.8008+9A>C (n.8008+9A>C)
c.8728+9A>C (n.8728+9A>C)
c.9226+9A>C (n.9226+9A>C)
c.6823+9A>C (n.6823+9A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237334617T=CA1337606370COL6A3c.1611-1069A=
c.8611+9A= (n.8611+9A=)
c.1356+9A=
c.97+9A= (n.97+9A=)
c.9229+9A= (n.9229+9A=)
c.7405+9A= (n.7405+9A=)
c.7408+9A= (n.7408+9A=)
n.5671+9A=
n.161+9A=
c.8629+9A= (n.8629+9A=)
c.8008+9A= (n.8008+9A=)
c.8728+9A= (n.8728+9A=)
c.9226+9A= (n.9226+9A=)
c.6823+9A= (n.6823+9A=)
2g.237334624_237334627delCA2580614114COL6A3c.1611-1074_1611-1071del
c.8611+4_8611+7del
c.1356+4_1356+7del
c.97+4_97+7del
c.9229+4_9229+7del
c.7405+4_7405+7del
c.7408+4_7408+7del
n.5671+4_5671+7del
n.161+4_161+7del
c.8629+4_8629+7del
c.8008+4_8008+7del
c.8728+4_8728+7del
c.9226+4_9226+7del
c.6823+4_6823+7del
 ClinVar
2g.237334622T>GCA2187326COL6A3c.1611-1074A>C
c.8611+4A>C (n.8611+4A>C)
c.1356+4A>C
c.97+4A>C (n.97+4A>C)
c.9229+4A>C (n.9229+4A>C)
c.7405+4A>C (n.7405+4A>C)
c.7408+4A>C (n.7408+4A>C)
n.5671+4A>C
n.161+4A>C
c.8629+4A>C (n.8629+4A>C)
c.8008+4A>C (n.8008+4A>C)
c.8728+4A>C (n.8728+4A>C)
c.9226+4A>C (n.9226+4A>C)
c.6823+4A>C (n.6823+4A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334622T=CA1337606371COL6A3c.1611-1074A=
c.8611+4A= (n.8611+4A=)
c.1356+4A=
c.97+4A= (n.97+4A=)
c.9229+4A= (n.9229+4A=)
c.7405+4A= (n.7405+4A=)
c.7408+4A= (n.7408+4A=)
n.5671+4A=
n.161+4A=
c.8629+4A= (n.8629+4A=)
c.8008+4A= (n.8008+4A=)
c.8728+4A= (n.8728+4A=)
c.9226+4A= (n.9226+4A=)
c.6823+4A= (n.6823+4A=)
2g.237334623T>CCA2663791818COL6A3c.1611-1075A>G
c.8611+3A>G (n.8611+3A>G)
c.1356+3A>G
c.97+3A>G (n.97+3A>G)
c.9229+3A>G (n.9229+3A>G)
c.7405+3A>G (n.7405+3A>G)
c.7408+3A>G (n.7408+3A>G)
n.5671+3A>G
n.161+3A>G
c.8629+3A>G (n.8629+3A>G)
c.8008+3A>G (n.8008+3A>G)
c.8728+3A>G (n.8728+3A>G)
c.9226+3A>G (n.9226+3A>G)
c.6823+3A>G (n.6823+3A>G)
 gnomAD v4
2g.237334624A=CA1337606372COL6A3c.1611-1076T=
c.8611+2T= (n.8611+2T=)
c.1356+2T=
c.97+2T= (n.97+2T=)
c.9229+2T= (n.9229+2T=)
c.7405+2T= (n.7405+2T=)
c.7408+2T= (n.7408+2T=)
n.5671+2T=
n.161+2T=
c.8629+2T= (n.8629+2T=)
c.8008+2T= (n.8008+2T=)
c.8728+2T= (n.8728+2T=)
c.9226+2T= (n.9226+2T=)
c.6823+2T= (n.6823+2T=)
2g.237334624A>CCA67829352COL6A3c.1611-1076T>G
c.8611+2T>G (n.8611+2T>G)
c.1356+2T>G
c.97+2T>G (n.97+2T>G)
c.9229+2T>G (n.9229+2T>G)
c.7405+2T>G (n.7405+2T>G)
c.7408+2T>G (n.7408+2T>G)
n.5671+2T>G
n.161+2T>G
c.8629+2T>G (n.8629+2T>G)
c.8008+2T>G (n.8008+2T>G)
c.8728+2T>G (n.8728+2T>G)
c.9226+2T>G (n.9226+2T>G)
c.6823+2T>G (n.6823+2T>G)
 dbSNP
2g.237334624A>GCA351187929COL6A3c.1611-1076T>C
c.8611+2T>C (n.8611+2T>C)
c.1356+2T>C
c.97+2T>C (n.97+2T>C)
c.9229+2T>C (n.9229+2T>C)
c.7405+2T>C (n.7405+2T>C)
c.7408+2T>C (n.7408+2T>C)
n.5671+2T>C
n.161+2T>C
c.8629+2T>C (n.8629+2T>C)
c.8008+2T>C (n.8008+2T>C)
c.8728+2T>C (n.8728+2T>C)
c.9226+2T>C (n.9226+2T>C)
c.6823+2T>C (n.6823+2T>C)
2g.237334624A>TCA351187931COL6A3c.1611-1076T>A
c.8611+2T>A (n.8611+2T>A)
c.1356+2T>A
c.97+2T>A (n.97+2T>A)
c.9229+2T>A (n.9229+2T>A)
c.7405+2T>A (n.7405+2T>A)
c.7408+2T>A (n.7408+2T>A)
n.5671+2T>A
n.161+2T>A
c.8629+2T>A (n.8629+2T>A)
c.8008+2T>A (n.8008+2T>A)
c.8728+2T>A (n.8728+2T>A)
c.9226+2T>A (n.9226+2T>A)
c.6823+2T>A (n.6823+2T>A)
2g.237334625C>ACA351187934COL6A3c.1611-1077G>T
c.8611+1G>T (n.8611+1G>T)
c.1356+1G>T
c.97+1G>T (n.97+1G>T)
c.9229+1G>T (n.9229+1G>T)
c.7405+1G>T (n.7405+1G>T)
c.7408+1G>T (n.7408+1G>T)
n.5671+1G>T
n.161+1G>T
c.8629+1G>T (n.8629+1G>T)
c.8008+1G>T (n.8008+1G>T)
c.8728+1G>T (n.8728+1G>T)
c.9226+1G>T (n.9226+1G>T)
c.6823+1G>T (n.6823+1G>T)
2g.237334625C=CA1337606373COL6A3c.1611-1077G=
c.8611+1G= (n.8611+1G=)
c.1356+1G=
c.97+1G= (n.97+1G=)
c.9229+1G= (n.9229+1G=)
c.7405+1G= (n.7405+1G=)
c.7408+1G= (n.7408+1G=)
n.5671+1G=
n.161+1G=
c.8629+1G= (n.8629+1G=)
c.8008+1G= (n.8008+1G=)
c.8728+1G= (n.8728+1G=)
c.9226+1G= (n.9226+1G=)
c.6823+1G= (n.6823+1G=)
2g.237334625C>GCA351187936COL6A3c.1611-1077G>C
c.8611+1G>C (n.8611+1G>C)
c.1356+1G>C
c.97+1G>C (n.97+1G>C)
c.9229+1G>C (n.9229+1G>C)
c.7405+1G>C (n.7405+1G>C)
c.7408+1G>C (n.7408+1G>C)
n.5671+1G>C
n.161+1G>C
c.8629+1G>C (n.8629+1G>C)
c.8008+1G>C (n.8008+1G>C)
c.8728+1G>C (n.8728+1G>C)
c.9226+1G>C (n.9226+1G>C)
c.6823+1G>C (n.6823+1G>C)
2g.237334625C>TCA67829356COL6A3c.1611-1077G>A
c.8611+1G>A (n.8611+1G>A)
c.1356+1G>A
c.97+1G>A (n.97+1G>A)
c.9229+1G>A (n.9229+1G>A)
c.7405+1G>A (n.7405+1G>A)
c.7408+1G>A (n.7408+1G>A)
n.5671+1G>A
n.161+1G>A
c.8629+1G>A (n.8629+1G>A)
c.8008+1G>A (n.8008+1G>A)
c.8728+1G>A (n.8728+1G>A)
c.9226+1G>A (n.9226+1G>A)
c.6823+1G>A (n.6823+1G>A)
 dbSNP
2g.237334626T>ACA351187938COL6A3c.1611-1078A>T
c.8611A>T (p.Lys2871Ter)
c.1356A>T
c.97A>T (p.Lys33Ter)
c.9229A>T (p.Lys3077Ter)
c.7405A>T (p.Lys2469Ter)
c.7408A>T (p.Lys2470Ter)
n.5671A>T
n.161A>T
c.8629A>T (p.Lys2877Ter)
c.8008A>T (p.Lys2670Ter)
c.8728A>T (p.Lys2910Ter)
c.9226A>T (p.Lys3076Ter)
c.6823A>T (p.Lys2275Ter)
2g.237334626T>CCA351187940COL6A3c.1611-1078A>G
c.8611A>G (p.Lys2871Glu)
c.1356A>G
c.97A>G (p.Lys33Glu)
c.9229A>G (p.Lys3077Glu)
c.7405A>G (p.Lys2469Glu)
c.7408A>G (p.Lys2470Glu)
n.5671A>G
n.161A>G
c.8629A>G (p.Lys2877Glu)
c.8008A>G (p.Lys2670Glu)
c.8728A>G (p.Lys2910Glu)
c.9226A>G (p.Lys3076Glu)
c.6823A>G (p.Lys2275Glu)
 gnomAD v4
2g.237334626T>GCA351187941COL6A3c.1611-1078A>C
c.8611A>C (p.Lys2871Gln)
c.1356A>C
c.97A>C (p.Lys33Gln)
c.9229A>C (p.Lys3077Gln)
c.7405A>C (p.Lys2469Gln)
c.7408A>C (p.Lys2470Gln)
n.5671A>C
n.161A>C
c.8629A>C (p.Lys2877Gln)
c.8008A>C (p.Lys2670Gln)
c.8728A>C (p.Lys2910Gln)
c.9226A>C (p.Lys3076Gln)
c.6823A>C (p.Lys2275Gln)
2g.237334627T>ACA431693352COL6A3c.1611-1079A>T
c.8610A>T (p.Thr2870=)
c.1355A>T
c.96A>T (p.Thr32=)
c.9228A>T (p.Thr3076=)
c.7404A>T (p.Thr2468=)
c.7407A>T (p.Thr2469=)
n.5670A>T
n.160A>T
c.8628A>T (p.Thr2876=)
c.8007A>T (p.Thr2669=)
c.8727A>T (p.Thr2909=)
c.9225A>T (p.Thr3075=)
c.6822A>T (p.Thr2274=)
 gnomAD v4
2g.237334627T>CCA431693350COL6A3c.1611-1079A>G
c.8610A>G (p.Thr2870=)
c.1355A>G
c.96A>G (p.Thr32=)
c.9228A>G (p.Thr3076=)
c.7404A>G (p.Thr2468=)
c.7407A>G (p.Thr2469=)
n.5670A>G
n.160A>G
c.8628A>G (p.Thr2876=)
c.8007A>G (p.Thr2669=)
c.8727A>G (p.Thr2909=)
c.9225A>G (p.Thr3075=)
c.6822A>G (p.Thr2274=)
2g.237334627T>GCA431693351COL6A3c.1611-1079A>C
c.8610A>C (p.Thr2870=)
c.1355A>C
c.96A>C (p.Thr32=)
c.9228A>C (p.Thr3076=)
c.7404A>C (p.Thr2468=)
c.7407A>C (p.Thr2469=)
n.5670A>C
n.160A>C
c.8628A>C (p.Thr2876=)
c.8007A>C (p.Thr2669=)
c.8727A>C (p.Thr2909=)
c.9225A>C (p.Thr3075=)
c.6822A>C (p.Thr2274=)
 gnomAD v4 COSMIC
2g.237334628G>ACA351187943COL6A3c.1611-1080C>T
c.8609C>T (p.Thr2870Ile)
c.1354C>T
c.95C>T (p.Thr32Ile)
c.9227C>T (p.Thr3076Ile)
c.7403C>T (p.Thr2468Ile)
c.7406C>T (p.Thr2469Ile)
n.5669C>T
n.159C>T
c.8627C>T (p.Thr2876Ile)
c.8006C>T (p.Thr2669Ile)
c.8726C>T (p.Thr2909Ile)
c.9224C>T (p.Thr3075Ile)
c.6821C>T (p.Thr2274Ile)
 gnomAD v4
2g.237334628G>CCA351187944COL6A3c.1611-1080C>G
c.8609C>G (p.Thr2870Arg)
c.1354C>G
c.95C>G (p.Thr32Arg)
c.9227C>G (p.Thr3076Arg)
c.7403C>G (p.Thr2468Arg)
c.7406C>G (p.Thr2469Arg)
n.5669C>G
n.159C>G
c.8627C>G (p.Thr2876Arg)
c.8006C>G (p.Thr2669Arg)
c.8726C>G (p.Thr2909Arg)
c.9224C>G (p.Thr3075Arg)
c.6821C>G (p.Thr2274Arg)
2g.237334628G>TCA351187946COL6A3c.1611-1080C>A
c.8609C>A (p.Thr2870Lys)
c.1354C>A
c.95C>A (p.Thr32Lys)
c.9227C>A (p.Thr3076Lys)
c.7403C>A (p.Thr2468Lys)
c.7406C>A (p.Thr2469Lys)
n.5669C>A
n.159C>A
c.8627C>A (p.Thr2876Lys)
c.8006C>A (p.Thr2669Lys)
c.8726C>A (p.Thr2909Lys)
c.9224C>A (p.Thr3075Lys)
c.6821C>A (p.Thr2274Lys)
2g.237334629T>ACA67829360COL6A3c.1611-1081A>T
c.8608A>T (p.Thr2870Ser)
c.1353A>T
c.94A>T (p.Thr32Ser)
c.9226A>T (p.Thr3076Ser)
c.7402A>T (p.Thr2468Ser)
c.7405A>T (p.Thr2469Ser)
n.5668A>T
n.158A>T
c.8626A>T (p.Thr2876Ser)
c.8005A>T (p.Thr2669Ser)
c.8725A>T (p.Thr2909Ser)
c.9223A>T (p.Thr3075Ser)
c.6820A>T (p.Thr2274Ser)
 dbSNP
2g.237334629T>CCA351187949COL6A3c.1611-1081A>G
c.8608A>G (p.Thr2870Ala)
c.1353A>G
c.94A>G (p.Thr32Ala)
c.9226A>G (p.Thr3076Ala)
c.7402A>G (p.Thr2468Ala)
c.7405A>G (p.Thr2469Ala)
n.5668A>G
n.158A>G
c.8626A>G (p.Thr2876Ala)
c.8005A>G (p.Thr2669Ala)
c.8725A>G (p.Thr2909Ala)
c.9223A>G (p.Thr3075Ala)
c.6820A>G (p.Thr2274Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334629T>GCA351187950COL6A3c.1611-1081A>C
c.8608A>C (p.Thr2870Pro)
c.1353A>C
c.94A>C (p.Thr32Pro)
c.9226A>C (p.Thr3076Pro)
c.7402A>C (p.Thr2468Pro)
c.7405A>C (p.Thr2469Pro)
n.5668A>C
n.158A>C
c.8626A>C (p.Thr2876Pro)
c.8005A>C (p.Thr2669Pro)
c.8725A>C (p.Thr2909Pro)
c.9223A>C (p.Thr3075Pro)
c.6820A>C (p.Thr2274Pro)
2g.237334629T=CA1337606374COL6A3c.1611-1081A=
c.8608A= (p.Thr2870=)
c.1353A=
c.94A= (p.Thr32=)
c.9226A= (p.Thr3076=)
c.7402A= (p.Thr2468=)
c.7405A= (p.Thr2469=)
n.5668A=
n.158A=
c.8626A= (p.Thr2876=)
c.8005A= (p.Thr2669=)
c.8725A= (p.Thr2909=)
c.9223A= (p.Thr3075=)
c.6820A= (p.Thr2274=)
2g.237334630A>CCA351187951COL6A3c.1611-1082T>G
c.8607T>G (p.Ser2869Arg)
c.1352T>G
c.93T>G (p.Ser31Arg)
c.9225T>G (p.Ser3075Arg)
c.7401T>G (p.Ser2467Arg)
c.7404T>G (p.Ser2468Arg)
n.5667T>G
n.157T>G
c.8625T>G (p.Ser2875Arg)
c.8004T>G (p.Ser2668Arg)
c.8724T>G (p.Ser2908Arg)
c.9222T>G (p.Ser3074Arg)
c.6819T>G (p.Ser2273Arg)
2g.237334630A>GCA431693353COL6A3c.1611-1082T>C
c.8607T>C (p.Ser2869=)
c.1352T>C
c.93T>C (p.Ser31=)
c.9225T>C (p.Ser3075=)
c.7401T>C (p.Ser2467=)
c.7404T>C (p.Ser2468=)
n.5667T>C
n.157T>C
c.8625T>C (p.Ser2875=)
c.8004T>C (p.Ser2668=)
c.8724T>C (p.Ser2908=)
c.9222T>C (p.Ser3074=)
c.6819T>C (p.Ser2273=)
2g.237334630A>TCA351187952COL6A3c.1611-1082T>A
c.8607T>A (p.Ser2869Arg)
c.1352T>A
c.93T>A (p.Ser31Arg)
c.9225T>A (p.Ser3075Arg)
c.7401T>A (p.Ser2467Arg)
c.7404T>A (p.Ser2468Arg)
n.5667T>A
n.157T>A
c.8625T>A (p.Ser2875Arg)
c.8004T>A (p.Ser2668Arg)
c.8724T>A (p.Ser2908Arg)
c.9222T>A (p.Ser3074Arg)
c.6819T>A (p.Ser2273Arg)
2g.237334631C>ACA351187955COL6A3c.1611-1083G>T
c.8606G>T (p.Ser2869Ile)
c.1351G>T
c.92G>T (p.Ser31Ile)
c.9224G>T (p.Ser3075Ile)
c.7400G>T (p.Ser2467Ile)
c.7403G>T (p.Ser2468Ile)
n.5666G>T
n.156G>T
c.8624G>T (p.Ser2875Ile)
c.8003G>T (p.Ser2668Ile)
c.8723G>T (p.Ser2908Ile)
c.9221G>T (p.Ser3074Ile)
c.6818G>T (p.Ser2273Ile)
2g.237334631C>GCA351187958COL6A3c.1611-1083G>C
c.8606G>C (p.Ser2869Thr)
c.1351G>C
c.92G>C (p.Ser31Thr)
c.9224G>C (p.Ser3075Thr)
c.7400G>C (p.Ser2467Thr)
c.7403G>C (p.Ser2468Thr)
n.5666G>C
n.156G>C
c.8624G>C (p.Ser2875Thr)
c.8003G>C (p.Ser2668Thr)
c.8723G>C (p.Ser2908Thr)
c.9221G>C (p.Ser3074Thr)
c.6818G>C (p.Ser2273Thr)
 gnomAD v4
2g.237334631C>TCA351187956COL6A3c.1611-1083G>A
c.8606G>A (p.Ser2869Asn)
c.1351G>A
c.92G>A (p.Ser31Asn)
c.9224G>A (p.Ser3075Asn)
c.7400G>A (p.Ser2467Asn)
c.7403G>A (p.Ser2468Asn)
n.5666G>A
n.156G>A
c.8624G>A (p.Ser2875Asn)
c.8003G>A (p.Ser2668Asn)
c.8723G>A (p.Ser2908Asn)
c.9221G>A (p.Ser3074Asn)
c.6818G>A (p.Ser2273Asn)
2g.237334632T>ACA351187960COL6A3c.1611-1084A>T
c.8605A>T (p.Ser2869Cys)
c.1350A>T
c.91A>T (p.Ser31Cys)
c.9223A>T (p.Ser3075Cys)
c.7399A>T (p.Ser2467Cys)
c.7402A>T (p.Ser2468Cys)
n.5665A>T
n.155A>T
c.8623A>T (p.Ser2875Cys)
c.8002A>T (p.Ser2668Cys)
c.8722A>T (p.Ser2908Cys)
c.9220A>T (p.Ser3074Cys)
c.6817A>T (p.Ser2273Cys)
2g.237334632T>CCA351187961COL6A3c.1611-1084A>G
c.8605A>G (p.Ser2869Gly)
c.1350A>G
c.91A>G (p.Ser31Gly)
c.9223A>G (p.Ser3075Gly)
c.7399A>G (p.Ser2467Gly)
c.7402A>G (p.Ser2468Gly)
n.5665A>G
n.155A>G
c.8623A>G (p.Ser2875Gly)
c.8002A>G (p.Ser2668Gly)
c.8722A>G (p.Ser2908Gly)
c.9220A>G (p.Ser3074Gly)
c.6817A>G (p.Ser2273Gly)
 dbSNP
2g.237334632T>GCA351187963COL6A3c.1611-1084A>C
c.8605A>C (p.Ser2869Arg)
c.1350A>C
c.91A>C (p.Ser31Arg)
c.9223A>C (p.Ser3075Arg)
c.7399A>C (p.Ser2467Arg)
c.7402A>C (p.Ser2468Arg)
n.5665A>C
n.155A>C
c.8623A>C (p.Ser2875Arg)
c.8002A>C (p.Ser2668Arg)
c.8722A>C (p.Ser2908Arg)
c.9220A>C (p.Ser3074Arg)
c.6817A>C (p.Ser2273Arg)
2g.237334632T=CA1337606375COL6A3c.1611-1084A=
c.8605A= (p.Ser2869=)
c.1350A=
c.91A= (p.Ser31=)
c.9223A= (p.Ser3075=)
c.7399A= (p.Ser2467=)
c.7402A= (p.Ser2468=)
n.5665A=
n.155A=
c.8623A= (p.Ser2875=)
c.8002A= (p.Ser2668=)
c.8722A= (p.Ser2908=)
c.9220A= (p.Ser3074=)
c.6817A= (p.Ser2273=)
2g.237334633G>ACA67829362COL6A3c.1611-1085C>T
c.8604C>T (p.Phe2868=)
c.1349C>T
c.90C>T (p.Phe30=)
c.9222C>T (p.Phe3074=)
c.7398C>T (p.Phe2466=)
c.7401C>T (p.Phe2467=)
n.5664C>T
n.154C>T
c.8622C>T (p.Phe2874=)
c.8001C>T (p.Phe2667=)
c.8721C>T (p.Phe2907=)
c.9219C>T (p.Phe3073=)
c.6816C>T (p.Phe2272=)
 dbSNP
2g.237334633G>CCA351187965COL6A3c.1611-1085C>G
c.8604C>G (p.Phe2868Leu)
c.1349C>G
c.90C>G (p.Phe30Leu)
c.9222C>G (p.Phe3074Leu)
c.7398C>G (p.Phe2466Leu)
c.7401C>G (p.Phe2467Leu)
n.5664C>G
n.154C>G
c.8622C>G (p.Phe2874Leu)
c.8001C>G (p.Phe2667Leu)
c.8721C>G (p.Phe2907Leu)
c.9219C>G (p.Phe3073Leu)
c.6816C>G (p.Phe2272Leu)
2g.237334633G=CA1337606376COL6A3c.1611-1085C=
c.8604C= (p.Phe2868=)
c.1349C=
c.90C= (p.Phe30=)
c.9222C= (p.Phe3074=)
c.7398C= (p.Phe2466=)
c.7401C= (p.Phe2467=)
n.5664C=
n.154C=
c.8622C= (p.Phe2874=)
c.8001C= (p.Phe2667=)
c.8721C= (p.Phe2907=)
c.9219C= (p.Phe3073=)
c.6816C= (p.Phe2272=)
2g.237334633G>TCA351187967COL6A3c.1611-1085C>A
c.8604C>A (p.Phe2868Leu)
c.1349C>A
c.90C>A (p.Phe30Leu)
c.9222C>A (p.Phe3074Leu)
c.7398C>A (p.Phe2466Leu)
c.7401C>A (p.Phe2467Leu)
n.5664C>A
n.154C>A
c.8622C>A (p.Phe2874Leu)
c.8001C>A (p.Phe2667Leu)
c.8721C>A (p.Phe2907Leu)
c.9219C>A (p.Phe3073Leu)
c.6816C>A (p.Phe2272Leu)
2g.237334634A>CCA351187970COL6A3c.1611-1086T>G
c.8603T>G (p.Phe2868Cys)
c.1348T>G
c.89T>G (p.Phe30Cys)
c.9221T>G (p.Phe3074Cys)
c.7397T>G (p.Phe2466Cys)
c.7400T>G (p.Phe2467Cys)
n.5663T>G
n.153T>G
c.8621T>G (p.Phe2874Cys)
c.8000T>G (p.Phe2667Cys)
c.8720T>G (p.Phe2907Cys)
c.9218T>G (p.Phe3073Cys)
c.6815T>G (p.Phe2272Cys)
2g.237334634A>GCA351187968COL6A3c.1611-1086T>C
c.8603T>C (p.Phe2868Ser)
c.1348T>C
c.89T>C (p.Phe30Ser)
c.9221T>C (p.Phe3074Ser)
c.7397T>C (p.Phe2466Ser)
c.7400T>C (p.Phe2467Ser)
n.5663T>C
n.153T>C
c.8621T>C (p.Phe2874Ser)
c.8000T>C (p.Phe2667Ser)
c.8720T>C (p.Phe2907Ser)
c.9218T>C (p.Phe3073Ser)
c.6815T>C (p.Phe2272Ser)
2g.237334634A>TCA351187969COL6A3c.1611-1086T>A
c.8603T>A (p.Phe2868Tyr)
c.1348T>A
c.89T>A (p.Phe30Tyr)
c.9221T>A (p.Phe3074Tyr)
c.7397T>A (p.Phe2466Tyr)
c.7400T>A (p.Phe2467Tyr)
n.5663T>A
n.153T>A
c.8621T>A (p.Phe2874Tyr)
c.8000T>A (p.Phe2667Tyr)
c.8720T>A (p.Phe2907Tyr)
c.9218T>A (p.Phe3073Tyr)
c.6815T>A (p.Phe2272Tyr)
2g.237334635A>CCA351187971COL6A3c.1611-1087T>G
c.8602T>G (p.Phe2868Val)
c.1347T>G
c.88T>G (p.Phe30Val)
c.9220T>G (p.Phe3074Val)
c.7396T>G (p.Phe2466Val)
c.7399T>G (p.Phe2467Val)
n.5662T>G
n.152T>G
c.8620T>G (p.Phe2874Val)
c.7999T>G (p.Phe2667Val)
c.8719T>G (p.Phe2907Val)
c.9217T>G (p.Phe3073Val)
c.6814T>G (p.Phe2272Val)
2g.237334635A>GCA351187972COL6A3c.1611-1087T>C
c.8602T>C (p.Phe2868Leu)
c.1347T>C
c.88T>C (p.Phe30Leu)
c.9220T>C (p.Phe3074Leu)
c.7396T>C (p.Phe2466Leu)
c.7399T>C (p.Phe2467Leu)
n.5662T>C
n.152T>C
c.8620T>C (p.Phe2874Leu)
c.7999T>C (p.Phe2667Leu)
c.8719T>C (p.Phe2907Leu)
c.9217T>C (p.Phe3073Leu)
c.6814T>C (p.Phe2272Leu)
2g.237334635A>TCA351187974COL6A3c.1611-1087T>A
c.8602T>A (p.Phe2868Ile)
c.1347T>A
c.88T>A (p.Phe30Ile)
c.9220T>A (p.Phe3074Ile)
c.7396T>A (p.Phe2466Ile)
c.7399T>A (p.Phe2467Ile)
n.5662T>A
n.152T>A
c.8620T>A (p.Phe2874Ile)
c.7999T>A (p.Phe2667Ile)
c.8719T>A (p.Phe2907Ile)
c.9217T>A (p.Phe3073Ile)
c.6814T>A (p.Phe2272Ile)
2g.237334636A=CA1337606377COL6A3c.1611-1088T=
c.8601T= (p.Ser2867=)
c.1346T=
c.87T= (p.Ser29=)
c.9219T= (p.Ser3073=)
c.7395T= (p.Ser2465=)
c.7398T= (p.Ser2466=)
n.5661T=
n.151T=
c.8619T= (p.Ser2873=)
c.7998T= (p.Ser2666=)
c.8718T= (p.Ser2906=)
c.9216T= (p.Ser3072=)
c.6813T= (p.Ser2271=)
2g.237334636A>CCA351187976COL6A3c.1611-1088T>G
c.8601T>G (p.Ser2867Arg)
c.1346T>G
c.87T>G (p.Ser29Arg)
c.9219T>G (p.Ser3073Arg)
c.7395T>G (p.Ser2465Arg)
c.7398T>G (p.Ser2466Arg)
n.5661T>G
n.151T>G
c.8619T>G (p.Ser2873Arg)
c.7998T>G (p.Ser2666Arg)
c.8718T>G (p.Ser2906Arg)
c.9216T>G (p.Ser3072Arg)
c.6813T>G (p.Ser2271Arg)
2g.237334636A>GCA431693354COL6A3c.1611-1088T>C
c.8601T>C (p.Ser2867=)
c.1346T>C
c.87T>C (p.Ser29=)
c.9219T>C (p.Ser3073=)
c.7395T>C (p.Ser2465=)
c.7398T>C (p.Ser2466=)
n.5661T>C
n.151T>C
c.8619T>C (p.Ser2873=)
c.7998T>C (p.Ser2666=)
c.8718T>C (p.Ser2906=)
c.9216T>C (p.Ser3072=)
c.6813T>C (p.Ser2271=)
2g.237334636A>TCA67829364COL6A3c.1611-1088T>A
c.8601T>A (p.Ser2867Arg)
c.1346T>A
c.87T>A (p.Ser29Arg)
c.9219T>A (p.Ser3073Arg)
c.7395T>A (p.Ser2465Arg)
c.7398T>A (p.Ser2466Arg)
n.5661T>A
n.151T>A
c.8619T>A (p.Ser2873Arg)
c.7998T>A (p.Ser2666Arg)
c.8718T>A (p.Ser2906Arg)
c.9216T>A (p.Ser3072Arg)
c.6813T>A (p.Ser2271Arg)
 dbSNP
2g.237334637C>ACA351187980COL6A3c.1611-1089G>T
c.8600G>T (p.Ser2867Ile)
c.1345G>T
c.86G>T (p.Ser29Ile)
c.9218G>T (p.Ser3073Ile)
c.7394G>T (p.Ser2465Ile)
c.7397G>T (p.Ser2466Ile)
n.5660G>T
n.150G>T
c.8618G>T (p.Ser2873Ile)
c.7997G>T (p.Ser2666Ile)
c.8717G>T (p.Ser2906Ile)
c.9215G>T (p.Ser3072Ile)
c.6812G>T (p.Ser2271Ile)
 gnomAD v4
2g.237334637C>GCA351187977COL6A3c.1611-1089G>C
c.8600G>C (p.Ser2867Thr)
c.1345G>C
c.86G>C (p.Ser29Thr)
c.9218G>C (p.Ser3073Thr)
c.7394G>C (p.Ser2465Thr)
c.7397G>C (p.Ser2466Thr)
n.5660G>C
n.150G>C
c.8618G>C (p.Ser2873Thr)
c.7997G>C (p.Ser2666Thr)
c.8717G>C (p.Ser2906Thr)
c.9215G>C (p.Ser3072Thr)
c.6812G>C (p.Ser2271Thr)
2g.237334637C>TCA351187979COL6A3c.1611-1089G>A
c.8600G>A (p.Ser2867Asn)
c.1345G>A
c.86G>A (p.Ser29Asn)
c.9218G>A (p.Ser3073Asn)
c.7394G>A (p.Ser2465Asn)
c.7397G>A (p.Ser2466Asn)
n.5660G>A
n.150G>A
c.8618G>A (p.Ser2873Asn)
c.7997G>A (p.Ser2666Asn)
c.8717G>A (p.Ser2906Asn)
c.9215G>A (p.Ser3072Asn)
c.6812G>A (p.Ser2271Asn)
 ClinVar gnomAD v4
2g.237334638T>ACA351187982COL6A3c.1611-1090A>T
c.8599A>T (p.Ser2867Cys)
c.1344A>T
c.85A>T (p.Ser29Cys)
c.9217A>T (p.Ser3073Cys)
c.7393A>T (p.Ser2465Cys)
c.7396A>T (p.Ser2466Cys)
n.5659A>T
n.149A>T
c.8617A>T (p.Ser2873Cys)
c.7996A>T (p.Ser2666Cys)
c.8716A>T (p.Ser2906Cys)
c.9214A>T (p.Ser3072Cys)
c.6811A>T (p.Ser2271Cys)
2g.237334638T>CCA2187327COL6A3c.1611-1090A>G
c.8599A>G (p.Ser2867Gly)
c.1344A>G
c.85A>G (p.Ser29Gly)
c.9217A>G (p.Ser3073Gly)
c.7393A>G (p.Ser2465Gly)
c.7396A>G (p.Ser2466Gly)
n.5659A>G
n.149A>G
c.8617A>G (p.Ser2873Gly)
c.7996A>G (p.Ser2666Gly)
c.8716A>G (p.Ser2906Gly)
c.9214A>G (p.Ser3072Gly)
c.6811A>G (p.Ser2271Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334638T>GCA351187984COL6A3c.1611-1090A>C
c.8599A>C (p.Ser2867Arg)
c.1344A>C
c.85A>C (p.Ser29Arg)
c.9217A>C (p.Ser3073Arg)
c.7393A>C (p.Ser2465Arg)
c.7396A>C (p.Ser2466Arg)
n.5659A>C
n.149A>C
c.8617A>C (p.Ser2873Arg)
c.7996A>C (p.Ser2666Arg)
c.8716A>C (p.Ser2906Arg)
c.9214A>C (p.Ser3072Arg)
c.6811A>C (p.Ser2271Arg)
 dbSNP COSMIC
2g.237334638T=CA1337606378COL6A3c.1611-1090A=
c.8599A= (p.Ser2867=)
c.1344A=
c.85A= (p.Ser29=)
c.9217A= (p.Ser3073=)
c.7393A= (p.Ser2465=)
c.7396A= (p.Ser2466=)
n.5659A=
n.149A=
c.8617A= (p.Ser2873=)
c.7996A= (p.Ser2666=)
c.8716A= (p.Ser2906=)
c.9214A= (p.Ser3072=)
c.6811A= (p.Ser2271=)
2g.237334639T>ACA431693357COL6A3c.1611-1091A>T
c.8598A>T (p.Gly2866=)
c.1343A>T
c.84A>T (p.Gly28=)
c.9216A>T (p.Gly3072=)
c.7392A>T (p.Gly2464=)
c.7395A>T (p.Gly2465=)
n.5658A>T
n.148A>T
c.8616A>T (p.Gly2872=)
c.7995A>T (p.Gly2665=)
c.8715A>T (p.Gly2905=)
c.9213A>T (p.Gly3071=)
c.6810A>T (p.Gly2270=)
2g.237334639T>CCA431693355COL6A3c.1611-1091A>G
c.8598A>G (p.Gly2866=)
c.1343A>G
c.84A>G (p.Gly28=)
c.9216A>G (p.Gly3072=)
c.7392A>G (p.Gly2464=)
c.7395A>G (p.Gly2465=)
n.5658A>G
n.148A>G
c.8616A>G (p.Gly2872=)
c.7995A>G (p.Gly2665=)
c.8715A>G (p.Gly2905=)
c.9213A>G (p.Gly3071=)
c.6810A>G (p.Gly2270=)
2g.237334639T>GCA431693356COL6A3c.1611-1091A>C
c.8598A>C (p.Gly2866=)
c.1343A>C
c.84A>C (p.Gly28=)
c.9216A>C (p.Gly3072=)
c.7392A>C (p.Gly2464=)
c.7395A>C (p.Gly2465=)
n.5658A>C
n.148A>C
c.8616A>C (p.Gly2872=)
c.7995A>C (p.Gly2665=)
c.8715A>C (p.Gly2905=)
c.9213A>C (p.Gly3071=)
c.6810A>C (p.Gly2270=)
2g.237334640C>ACA351187986COL6A3c.1611-1092G>T
c.8597G>T (p.Gly2866Val)
c.1342G>T
c.83G>T (p.Gly28Val)
c.9215G>T (p.Gly3072Val)
c.7391G>T (p.Gly2464Val)
c.7394G>T (p.Gly2465Val)
n.5657G>T
n.147G>T
c.8615G>T (p.Gly2872Val)
c.7994G>T (p.Gly2665Val)
c.8714G>T (p.Gly2905Val)
c.9212G>T (p.Gly3071Val)
c.6809G>T (p.Gly2270Val)
 dbSNP
2g.237334640C=CA1337606379COL6A3c.1611-1092G=
c.8597G= (p.Gly2866=)
c.1342G=
c.83G= (p.Gly28=)
c.9215G= (p.Gly3072=)
c.7391G= (p.Gly2464=)
c.7394G= (p.Gly2465=)
n.5657G=
n.147G=
c.8615G= (p.Gly2872=)
c.7994G= (p.Gly2665=)
c.8714G= (p.Gly2905=)
c.9212G= (p.Gly3071=)
c.6809G= (p.Gly2270=)
2g.237334640C>GCA351187987COL6A3c.1611-1092G>C
c.8597G>C (p.Gly2866Ala)
c.1342G>C
c.83G>C (p.Gly28Ala)
c.9215G>C (p.Gly3072Ala)
c.7391G>C (p.Gly2464Ala)
c.7394G>C (p.Gly2465Ala)
n.5657G>C
n.147G>C
c.8615G>C (p.Gly2872Ala)
c.7994G>C (p.Gly2665Ala)
c.8714G>C (p.Gly2905Ala)
c.9212G>C (p.Gly3071Ala)
c.6809G>C (p.Gly2270Ala)
2g.237334640C>TCA2187328COL6A3c.1611-1092G>A
c.8597G>A (p.Gly2866Glu)
c.1342G>A
c.83G>A (p.Gly28Glu)
c.9215G>A (p.Gly3072Glu)
c.7391G>A (p.Gly2464Glu)
c.7394G>A (p.Gly2465Glu)
n.5657G>A
n.147G>A
c.8615G>A (p.Gly2872Glu)
c.7994G>A (p.Gly2665Glu)
c.8714G>A (p.Gly2905Glu)
c.9212G>A (p.Gly3071Glu)
c.6809G>A (p.Gly2270Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334641C>ACA351187990COL6A3c.1611-1093G>T
c.8596G>T (p.Gly2866Ter)
c.1341G>T
c.82G>T (p.Gly28Ter)
c.9214G>T (p.Gly3072Ter)
c.7390G>T (p.Gly2464Ter)
c.7393G>T (p.Gly2465Ter)
n.5656G>T
n.146G>T
c.8614G>T (p.Gly2872Ter)
c.7993G>T (p.Gly2665Ter)
c.8713G>T (p.Gly2905Ter)
c.9211G>T (p.Gly3071Ter)
c.6808G>T (p.Gly2270Ter)
 gnomAD v4
2g.237334641C=CA1337606380COL6A3c.1611-1093G=
c.8596G= (p.Gly2866=)
c.1341G=
c.82G= (p.Gly28=)
c.9214G= (p.Gly3072=)
c.7390G= (p.Gly2464=)
c.7393G= (p.Gly2465=)
n.5656G=
n.146G=
c.8614G= (p.Gly2872=)
c.7993G= (p.Gly2665=)
c.8713G= (p.Gly2905=)
c.9211G= (p.Gly3071=)
c.6808G= (p.Gly2270=)
2g.237334641C>GCA351187992COL6A3c.1611-1093G>C
c.8596G>C (p.Gly2866Arg)
c.1341G>C
c.82G>C (p.Gly28Arg)
c.9214G>C (p.Gly3072Arg)
c.7390G>C (p.Gly2464Arg)
c.7393G>C (p.Gly2465Arg)
n.5656G>C
n.146G>C
c.8614G>C (p.Gly2872Arg)
c.7993G>C (p.Gly2665Arg)
c.8713G>C (p.Gly2905Arg)
c.9211G>C (p.Gly3071Arg)
c.6808G>C (p.Gly2270Arg)
2g.237334641C>TCA351187993COL6A3c.1611-1093G>A
c.8596G>A (p.Gly2866Arg)
c.1341G>A
c.82G>A (p.Gly28Arg)
c.9214G>A (p.Gly3072Arg)
c.7390G>A (p.Gly2464Arg)
c.7393G>A (p.Gly2465Arg)
n.5656G>A
n.146G>A
c.8614G>A (p.Gly2872Arg)
c.7993G>A (p.Gly2665Arg)
c.8713G>A (p.Gly2905Arg)
c.9211G>A (p.Gly3071Arg)
c.6808G>A (p.Gly2270Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237334642G>ACA148101COL6A3c.1611-1094C>T
c.8595C>T (p.His2865=)
c.1340C>T
c.81C>T (p.His27=)
c.9213C>T (p.His3071=)
c.7389C>T (p.His2463=)
c.7392C>T (p.His2464=)
n.5655C>T
n.145C>T
c.8613C>T (p.His2871=)
c.7992C>T (p.His2664=)
c.8712C>T (p.His2904=)
c.9210C>T (p.His3070=)
c.6807C>T (p.His2269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334642G>CCA351187996COL6A3c.1611-1094C>G
c.8595C>G (p.His2865Gln)
c.1340C>G
c.81C>G (p.His27Gln)
c.9213C>G (p.His3071Gln)
c.7389C>G (p.His2463Gln)
c.7392C>G (p.His2464Gln)
n.5655C>G
n.145C>G
c.8613C>G (p.His2871Gln)
c.7992C>G (p.His2664Gln)
c.8712C>G (p.His2904Gln)
c.9210C>G (p.His3070Gln)
c.6807C>G (p.His2269Gln)
2g.237334642G=CA1337606381COL6A3c.1611-1094C=
c.8595C= (p.His2865=)
c.1340C=
c.81C= (p.His27=)
c.9213C= (p.His3071=)
c.7389C= (p.His2463=)
c.7392C= (p.His2464=)
n.5655C=
n.145C=
c.8613C= (p.His2871=)
c.7992C= (p.His2664=)
c.8712C= (p.His2904=)
c.9210C= (p.His3070=)
c.6807C= (p.His2269=)
2g.237334642G>TCA351187997COL6A3c.1611-1094C>A
c.8595C>A (p.His2865Gln)
c.1340C>A
c.81C>A (p.His27Gln)
c.9213C>A (p.His3071Gln)
c.7389C>A (p.His2463Gln)
c.7392C>A (p.His2464Gln)
n.5655C>A
n.145C>A
c.8613C>A (p.His2871Gln)
c.7992C>A (p.His2664Gln)
c.8712C>A (p.His2904Gln)
c.9210C>A (p.His3070Gln)
c.6807C>A (p.His2269Gln)
2g.237334643T>ACA351187999COL6A3c.1611-1095A>T
c.8594A>T (p.His2865Leu)
c.1339A>T
c.80A>T (p.His27Leu)
c.9212A>T (p.His3071Leu)
c.7388A>T (p.His2463Leu)
c.7391A>T (p.His2464Leu)
n.5654A>T
n.144A>T
c.8612A>T (p.His2871Leu)
c.7991A>T (p.His2664Leu)
c.8711A>T (p.His2904Leu)
c.9209A>T (p.His3070Leu)
c.6806A>T (p.His2269Leu)
2g.237334643T>CCA2187329COL6A3c.1611-1095A>G
c.8594A>G (p.His2865Arg)
c.1339A>G
c.80A>G (p.His27Arg)
c.9212A>G (p.His3071Arg)
c.7388A>G (p.His2463Arg)
c.7391A>G (p.His2464Arg)
n.5654A>G
n.144A>G
c.8612A>G (p.His2871Arg)
c.7991A>G (p.His2664Arg)
c.8711A>G (p.His2904Arg)
c.9209A>G (p.His3070Arg)
c.6806A>G (p.His2269Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334643T>GCA351188001COL6A3c.1611-1095A>C
c.8594A>C (p.His2865Pro)
c.1339A>C
c.80A>C (p.His27Pro)
c.9212A>C (p.His3071Pro)
c.7388A>C (p.His2463Pro)
c.7391A>C (p.His2464Pro)
n.5654A>C
n.144A>C
c.8612A>C (p.His2871Pro)
c.7991A>C (p.His2664Pro)
c.8711A>C (p.His2904Pro)
c.9209A>C (p.His3070Pro)
c.6806A>C (p.His2269Pro)
2g.237334643T=CA1337606382COL6A3c.1611-1095A=
c.8594A= (p.His2865=)
c.1339A=
c.80A= (p.His27=)
c.9212A= (p.His3071=)
c.7388A= (p.His2463=)
c.7391A= (p.His2464=)
n.5654A=
n.144A=
c.8612A= (p.His2871=)
c.7991A= (p.His2664=)
c.8711A= (p.His2904=)
c.9209A= (p.His3070=)
c.6806A= (p.His2269=)
2g.237334644G>ACA351188003COL6A3c.1611-1096C>T
c.8593C>T (p.His2865Tyr)
c.1338C>T
c.79C>T (p.His27Tyr)
c.9211C>T (p.His3071Tyr)
c.7387C>T (p.His2463Tyr)
c.7390C>T (p.His2464Tyr)
n.5653C>T
n.143C>T
c.8611C>T (p.His2871Tyr)
c.7990C>T (p.His2664Tyr)
c.8710C>T (p.His2904Tyr)
c.9208C>T (p.His3070Tyr)
c.6805C>T (p.His2269Tyr)
 gnomAD v4
2g.237334644G>CCA351188005COL6A3c.1611-1096C>G
c.8593C>G (p.His2865Asp)
c.1338C>G
c.79C>G (p.His27Asp)
c.9211C>G (p.His3071Asp)
c.7387C>G (p.His2463Asp)
c.7390C>G (p.His2464Asp)
n.5653C>G
n.143C>G
c.8611C>G (p.His2871Asp)
c.7990C>G (p.His2664Asp)
c.8710C>G (p.His2904Asp)
c.9208C>G (p.His3070Asp)
c.6805C>G (p.His2269Asp)
2g.237334644G>TCA351188006COL6A3c.1611-1096C>A
c.8593C>A (p.His2865Asn)
c.1338C>A
c.79C>A (p.His27Asn)
c.9211C>A (p.His3071Asn)
c.7387C>A (p.His2463Asn)
c.7390C>A (p.His2464Asn)
n.5653C>A
n.143C>A
c.8611C>A (p.His2871Asn)
c.7990C>A (p.His2664Asn)
c.8710C>A (p.His2904Asn)
c.9208C>A (p.His3070Asn)
c.6805C>A (p.His2269Asn)
2g.237334645G>ACA431693359COL6A3c.1611-1097C>T
c.8592C>T (p.Tyr2864=)
c.1337C>T
c.78C>T (p.Tyr26=)
c.9210C>T (p.Tyr3070=)
c.7386C>T (p.Tyr2462=)
c.7389C>T (p.Tyr2463=)
n.5652C>T
n.142C>T
c.8610C>T (p.Tyr2870=)
c.7989C>T (p.Tyr2663=)
c.8709C>T (p.Tyr2903=)
c.9207C>T (p.Tyr3069=)
c.6804C>T (p.Tyr2268=)
 ClinVar dbSNP
2g.237334645G>CCA351188008COL6A3c.1611-1097C>G
c.8592C>G (p.Tyr2864Ter)
c.1337C>G
c.78C>G (p.Tyr26Ter)
c.9210C>G (p.Tyr3070Ter)
c.7386C>G (p.Tyr2462Ter)
c.7389C>G (p.Tyr2463Ter)
n.5652C>G
n.142C>G
c.8610C>G (p.Tyr2870Ter)
c.7989C>G (p.Tyr2663Ter)
c.8709C>G (p.Tyr2903Ter)
c.9207C>G (p.Tyr3069Ter)
c.6804C>G (p.Tyr2268Ter)
2g.237334645G=CA1337606383COL6A3c.1611-1097C=
c.8592C= (p.Tyr2864=)
c.1337C=
c.78C= (p.Tyr26=)
c.9210C= (p.Tyr3070=)
c.7386C= (p.Tyr2462=)
c.7389C= (p.Tyr2463=)
n.5652C=
n.142C=
c.8610C= (p.Tyr2870=)
c.7989C= (p.Tyr2663=)
c.8709C= (p.Tyr2903=)
c.9207C= (p.Tyr3069=)
c.6804C= (p.Tyr2268=)
2g.237334645G>TCA351188010COL6A3c.1611-1097C>A
c.8592C>A (p.Tyr2864Ter)
c.1337C>A
c.78C>A (p.Tyr26Ter)
c.9210C>A (p.Tyr3070Ter)
c.7386C>A (p.Tyr2462Ter)
c.7389C>A (p.Tyr2463Ter)
n.5652C>A
n.142C>A
c.8610C>A (p.Tyr2870Ter)
c.7989C>A (p.Tyr2663Ter)
c.8709C>A (p.Tyr2903Ter)
c.9207C>A (p.Tyr3069Ter)
c.6804C>A (p.Tyr2268Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.237334646T>ACA351188012COL6A3c.1611-1098A>T
c.8591A>T (p.Tyr2864Phe)
c.1336A>T
c.77A>T (p.Tyr26Phe)
c.9209A>T (p.Tyr3070Phe)
c.7385A>T (p.Tyr2462Phe)
c.7388A>T (p.Tyr2463Phe)
n.5651A>T
n.141A>T
c.8609A>T (p.Tyr2870Phe)
c.7988A>T (p.Tyr2663Phe)
c.8708A>T (p.Tyr2903Phe)
c.9206A>T (p.Tyr3069Phe)
c.6803A>T (p.Tyr2268Phe)
2g.237334646T>CCA2187330COL6A3c.1611-1098A>G
c.8591A>G (p.Tyr2864Cys)
c.1336A>G
c.77A>G (p.Tyr26Cys)
c.9209A>G (p.Tyr3070Cys)
c.7385A>G (p.Tyr2462Cys)
c.7388A>G (p.Tyr2463Cys)
n.5651A>G
n.141A>G
c.8609A>G (p.Tyr2870Cys)
c.7988A>G (p.Tyr2663Cys)
c.8708A>G (p.Tyr2903Cys)
c.9206A>G (p.Tyr3069Cys)
c.6803A>G (p.Tyr2268Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334646T>GCA351188014COL6A3c.1611-1098A>C
c.8591A>C (p.Tyr2864Ser)
c.1336A>C
c.77A>C (p.Tyr26Ser)
c.9209A>C (p.Tyr3070Ser)
c.7385A>C (p.Tyr2462Ser)
c.7388A>C (p.Tyr2463Ser)
n.5651A>C
n.141A>C
c.8609A>C (p.Tyr2870Ser)
c.7988A>C (p.Tyr2663Ser)
c.8708A>C (p.Tyr2903Ser)
c.9206A>C (p.Tyr3069Ser)
c.6803A>C (p.Tyr2268Ser)
2g.237334646T=CA1337606384COL6A3c.1611-1098A=
c.8591A= (p.Tyr2864=)
c.1336A=
c.77A= (p.Tyr26=)
c.9209A= (p.Tyr3070=)
c.7385A= (p.Tyr2462=)
c.7388A= (p.Tyr2463=)
n.5651A=
n.141A=
c.8609A= (p.Tyr2870=)
c.7988A= (p.Tyr2663=)
c.8708A= (p.Tyr2903=)
c.9206A= (p.Tyr3069=)
c.6803A= (p.Tyr2268=)
2g.237334647A>CCA351188016COL6A3c.1611-1099T>G
c.8590T>G (p.Tyr2864Asp)
c.1335T>G
c.76T>G (p.Tyr26Asp)
c.9208T>G (p.Tyr3070Asp)
c.7384T>G (p.Tyr2462Asp)
c.7387T>G (p.Tyr2463Asp)
n.5650T>G
n.140T>G
c.8608T>G (p.Tyr2870Asp)
c.7987T>G (p.Tyr2663Asp)
c.8707T>G (p.Tyr2903Asp)
c.9205T>G (p.Tyr3069Asp)
c.6802T>G (p.Tyr2268Asp)
2g.237334647A>GCA351188017COL6A3c.1611-1099T>C
c.8590T>C (p.Tyr2864His)
c.1335T>C
c.76T>C (p.Tyr26His)
c.9208T>C (p.Tyr3070His)
c.7384T>C (p.Tyr2462His)
c.7387T>C (p.Tyr2463His)
n.5650T>C
n.140T>C
c.8608T>C (p.Tyr2870His)
c.7987T>C (p.Tyr2663His)
c.8707T>C (p.Tyr2903His)
c.9205T>C (p.Tyr3069His)
c.6802T>C (p.Tyr2268His)
2g.237334647A>TCA351188019COL6A3c.1611-1099T>A
c.8590T>A (p.Tyr2864Asn)
c.1335T>A
c.76T>A (p.Tyr26Asn)
c.9208T>A (p.Tyr3070Asn)
c.7384T>A (p.Tyr2462Asn)
c.7387T>A (p.Tyr2463Asn)
n.5650T>A
n.140T>A
c.8608T>A (p.Tyr2870Asn)
c.7987T>A (p.Tyr2663Asn)
c.8707T>A (p.Tyr2903Asn)
c.9205T>A (p.Tyr3069Asn)
c.6802T>A (p.Tyr2268Asn)
2g.237334648G>ACA431693360COL6A3c.1611-1100C>T
c.8589C>T (p.Thr2863=)
c.1334C>T
c.75C>T (p.Thr25=)
c.9207C>T (p.Thr3069=)
c.7383C>T (p.Thr2461=)
c.7386C>T (p.Thr2462=)
n.5649C>T
n.139C>T
c.8607C>T (p.Thr2869=)
c.7986C>T (p.Thr2662=)
c.8706C>T (p.Thr2902=)
c.9204C>T (p.Thr3068=)
c.6801C>T (p.Thr2267=)
2g.237334648G>CCA431693362COL6A3c.1611-1100C>G
c.8589C>G (p.Thr2863=)
c.1334C>G
c.75C>G (p.Thr25=)
c.9207C>G (p.Thr3069=)
c.7383C>G (p.Thr2461=)
c.7386C>G (p.Thr2462=)
n.5649C>G
n.139C>G
c.8607C>G (p.Thr2869=)
c.7986C>G (p.Thr2662=)
c.8706C>G (p.Thr2902=)
c.9204C>G (p.Thr3068=)
c.6801C>G (p.Thr2267=)
2g.237334648G>TCA431693361COL6A3c.1611-1100C>A
c.8589C>A (p.Thr2863=)
c.1334C>A
c.75C>A (p.Thr25=)
c.9207C>A (p.Thr3069=)
c.7383C>A (p.Thr2461=)
c.7386C>A (p.Thr2462=)
n.5649C>A
n.139C>A
c.8607C>A (p.Thr2869=)
c.7986C>A (p.Thr2662=)
c.8706C>A (p.Thr2902=)
c.9204C>A (p.Thr3068=)
c.6801C>A (p.Thr2267=)
2g.237334649G>ACA148098COL6A3c.1611-1101C>T
c.8588C>T (p.Thr2863Ile)
c.1333C>T
c.74C>T (p.Thr25Ile)
c.9206C>T (p.Thr3069Ile)
c.7382C>T (p.Thr2461Ile)
c.7385C>T (p.Thr2462Ile)
n.5648C>T
n.138C>T
c.8606C>T (p.Thr2869Ile)
c.7985C>T (p.Thr2662Ile)
c.8705C>T (p.Thr2902Ile)
c.9203C>T (p.Thr3068Ile)
c.6800C>T (p.Thr2267Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334649G>CCA351188026COL6A3c.1611-1101C>G
c.8588C>G (p.Thr2863Ser)
c.1333C>G
c.74C>G (p.Thr25Ser)
c.9206C>G (p.Thr3069Ser)
c.7382C>G (p.Thr2461Ser)
c.7385C>G (p.Thr2462Ser)
n.5648C>G
n.138C>G
c.8606C>G (p.Thr2869Ser)
c.7985C>G (p.Thr2662Ser)
c.8705C>G (p.Thr2902Ser)
c.9203C>G (p.Thr3068Ser)
c.6800C>G (p.Thr2267Ser)
2g.237334649G=CA1337606385COL6A3c.1611-1101C=
c.8588C= (p.Thr2863=)
c.1333C=
c.74C= (p.Thr25=)
c.9206C= (p.Thr3069=)
c.7382C= (p.Thr2461=)
c.7385C= (p.Thr2462=)
n.5648C=
n.138C=
c.8606C= (p.Thr2869=)
c.7985C= (p.Thr2662=)
c.8705C= (p.Thr2902=)
c.9203C= (p.Thr3068=)
c.6800C= (p.Thr2267=)
2g.237334649G>TCA351188024COL6A3c.1611-1101C>A
c.8588C>A (p.Thr2863Asn)
c.1333C>A
c.74C>A (p.Thr25Asn)
c.9206C>A (p.Thr3069Asn)
c.7382C>A (p.Thr2461Asn)
c.7385C>A (p.Thr2462Asn)
n.5648C>A
n.138C>A
c.8606C>A (p.Thr2869Asn)
c.7985C>A (p.Thr2662Asn)
c.8705C>A (p.Thr2902Asn)
c.9203C>A (p.Thr3068Asn)
c.6800C>A (p.Thr2267Asn)
2g.237334650T>ACA351188030COL6A3c.1611-1102A>T
c.8587A>T (p.Thr2863Ser)
c.1332A>T
c.73A>T (p.Thr25Ser)
c.9205A>T (p.Thr3069Ser)
c.7381A>T (p.Thr2461Ser)
c.7384A>T (p.Thr2462Ser)
n.5647A>T
n.137A>T
c.8605A>T (p.Thr2869Ser)
c.7984A>T (p.Thr2662Ser)
c.8704A>T (p.Thr2902Ser)
c.9202A>T (p.Thr3068Ser)
c.6799A>T (p.Thr2267Ser)
2g.237334650T>CCA351188032COL6A3c.1611-1102A>G
c.8587A>G (p.Thr2863Ala)
c.1332A>G
c.73A>G (p.Thr25Ala)
c.9205A>G (p.Thr3069Ala)
c.7381A>G (p.Thr2461Ala)
c.7384A>G (p.Thr2462Ala)
n.5647A>G
n.137A>G
c.8605A>G (p.Thr2869Ala)
c.7984A>G (p.Thr2662Ala)
c.8704A>G (p.Thr2902Ala)
c.9202A>G (p.Thr3068Ala)
c.6799A>G (p.Thr2267Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237334650T>GCA351188034COL6A3c.1611-1102A>C
c.8587A>C (p.Thr2863Pro)
c.1332A>C
c.73A>C (p.Thr25Pro)
c.9205A>C (p.Thr3069Pro)
c.7381A>C (p.Thr2461Pro)
c.7384A>C (p.Thr2462Pro)
n.5647A>C
n.137A>C
c.8605A>C (p.Thr2869Pro)
c.7984A>C (p.Thr2662Pro)
c.8704A>C (p.Thr2902Pro)
c.9202A>C (p.Thr3068Pro)
c.6799A>C (p.Thr2267Pro)
2g.237334650T=CA1337606386COL6A3c.1611-1102A=
c.8587A= (p.Thr2863=)
c.1332A=
c.73A= (p.Thr25=)
c.9205A= (p.Thr3069=)
c.7381A= (p.Thr2461=)
c.7384A= (p.Thr2462=)
n.5647A=
n.137A=
c.8605A= (p.Thr2869=)
c.7984A= (p.Thr2662=)
c.8704A= (p.Thr2902=)
c.9202A= (p.Thr3068=)
c.6799A= (p.Thr2267=)
2g.237334651G>ACA431693364COL6A3c.1611-1103C>T
c.8586C>T (p.Ala2862=)
c.1331C>T
c.72C>T (p.Ala24=)
c.9204C>T (p.Ala3068=)
c.7380C>T (p.Ala2460=)
c.7383C>T (p.Ala2461=)
n.5646C>T
n.136C>T
c.8604C>T (p.Ala2868=)
c.7983C>T (p.Ala2661=)
c.8703C>T (p.Ala2901=)
c.9201C>T (p.Ala3067=)
c.6798C>T (p.Ala2266=)
 dbSNP gnomAD v4
2g.237334651G>CCA431693365COL6A3c.1611-1103C>G
c.8586C>G (p.Ala2862=)
c.1331C>G
c.72C>G (p.Ala24=)
c.9204C>G (p.Ala3068=)
c.7380C>G (p.Ala2460=)
c.7383C>G (p.Ala2461=)
n.5646C>G
n.136C>G
c.8604C>G (p.Ala2868=)
c.7983C>G (p.Ala2661=)
c.8703C>G (p.Ala2901=)
c.9201C>G (p.Ala3067=)
c.6798C>G (p.Ala2266=)
 gnomAD v4
2g.237334651G=CA1337606387COL6A3c.1611-1103C=
c.8586C= (p.Ala2862=)
c.1331C=
c.72C= (p.Ala24=)
c.9204C= (p.Ala3068=)
c.7380C= (p.Ala2460=)
c.7383C= (p.Ala2461=)
n.5646C=
n.136C=
c.8604C= (p.Ala2868=)
c.7983C= (p.Ala2661=)
c.8703C= (p.Ala2901=)
c.9201C= (p.Ala3067=)
c.6798C= (p.Ala2266=)
2g.237334651G>TCA2187331COL6A3c.1611-1103C>A
c.8586C>A (p.Ala2862=)
c.1331C>A
c.72C>A (p.Ala24=)
c.9204C>A (p.Ala3068=)
c.7380C>A (p.Ala2460=)
c.7383C>A (p.Ala2461=)
n.5646C>A
n.136C>A
c.8604C>A (p.Ala2868=)
c.7983C>A (p.Ala2661=)
c.8703C>A (p.Ala2901=)
c.9201C>A (p.Ala3067=)
c.6798C>A (p.Ala2266=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334652G>ACA351188039COL6A3c.1611-1104C>T
c.8585C>T (p.Ala2862Val)
c.1330C>T
c.71C>T (p.Ala24Val)
c.9203C>T (p.Ala3068Val)
c.7379C>T (p.Ala2460Val)
c.7382C>T (p.Ala2461Val)
n.5645C>T
n.135C>T
c.8603C>T (p.Ala2868Val)
c.7982C>T (p.Ala2661Val)
c.8702C>T (p.Ala2901Val)
c.9200C>T (p.Ala3067Val)
c.6797C>T (p.Ala2266Val)
 ClinVar dbSNP gnomAD v4
2g.237334652G>CCA351188041COL6A3c.1611-1104C>G
c.8585C>G (p.Ala2862Gly)
c.1330C>G
c.71C>G (p.Ala24Gly)
c.9203C>G (p.Ala3068Gly)
c.7379C>G (p.Ala2460Gly)
c.7382C>G (p.Ala2461Gly)
n.5645C>G
n.135C>G
c.8603C>G (p.Ala2868Gly)
c.7982C>G (p.Ala2661Gly)
c.8702C>G (p.Ala2901Gly)
c.9200C>G (p.Ala3067Gly)
c.6797C>G (p.Ala2266Gly)
2g.237334652G=CA1337606388COL6A3c.1611-1104C=
c.8585C= (p.Ala2862=)
c.1330C=
c.71C= (p.Ala24=)
c.9203C= (p.Ala3068=)
c.7379C= (p.Ala2460=)
c.7382C= (p.Ala2461=)
n.5645C=
n.135C=
c.8603C= (p.Ala2868=)
c.7982C= (p.Ala2661=)
c.8702C= (p.Ala2901=)
c.9200C= (p.Ala3067=)
c.6797C= (p.Ala2266=)
2g.237334652G>TCA2187332COL6A3c.1611-1104C>A
c.8585C>A (p.Ala2862Asp)
c.1330C>A
c.71C>A (p.Ala24Asp)
c.9203C>A (p.Ala3068Asp)
c.7379C>A (p.Ala2460Asp)
c.7382C>A (p.Ala2461Asp)
n.5645C>A
n.135C>A
c.8603C>A (p.Ala2868Asp)
c.7982C>A (p.Ala2661Asp)
c.8702C>A (p.Ala2901Asp)
c.9200C>A (p.Ala3067Asp)
c.6797C>A (p.Ala2266Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334653C>ACA351188045COL6A3c.1611-1105G>T
c.8584G>T (p.Ala2862Ser)
c.1329G>T
c.70G>T (p.Ala24Ser)
c.9202G>T (p.Ala3068Ser)
c.7378G>T (p.Ala2460Ser)
c.7381G>T (p.Ala2461Ser)
n.5644G>T
n.134G>T
c.8602G>T (p.Ala2868Ser)
c.7981G>T (p.Ala2661Ser)
c.8701G>T (p.Ala2901Ser)
c.9199G>T (p.Ala3067Ser)
c.6796G>T (p.Ala2266Ser)
2g.237334653C>GCA351188046COL6A3c.1611-1105G>C
c.8584G>C (p.Ala2862Pro)
c.1329G>C
c.70G>C (p.Ala24Pro)
c.9202G>C (p.Ala3068Pro)
c.7378G>C (p.Ala2460Pro)
c.7381G>C (p.Ala2461Pro)
n.5644G>C
n.134G>C
c.8602G>C (p.Ala2868Pro)
c.7981G>C (p.Ala2661Pro)
c.8701G>C (p.Ala2901Pro)
c.9199G>C (p.Ala3067Pro)
c.6796G>C (p.Ala2266Pro)
2g.237334653C>TCA351188049COL6A3c.1611-1105G>A
c.8584G>A (p.Ala2862Thr)
c.1329G>A
c.70G>A (p.Ala24Thr)
c.9202G>A (p.Ala3068Thr)
c.7378G>A (p.Ala2460Thr)
c.7381G>A (p.Ala2461Thr)
n.5644G>A
n.134G>A
c.8602G>A (p.Ala2868Thr)
c.7981G>A (p.Ala2661Thr)
c.8701G>A (p.Ala2901Thr)
c.9199G>A (p.Ala3067Thr)
c.6796G>A (p.Ala2266Thr)
 gnomAD v4
2g.237334654T>ACA351188051COL6A3c.1611-1106A>T
c.8583A>T (p.Arg2861Ser)
c.1328A>T
c.69A>T (p.Arg23Ser)
c.9201A>T (p.Arg3067Ser)
c.7377A>T (p.Arg2459Ser)
c.7380A>T (p.Arg2460Ser)
n.5643A>T
n.133A>T
c.8601A>T (p.Arg2867Ser)
c.7980A>T (p.Arg2660Ser)
c.8700A>T (p.Arg2900Ser)
c.9198A>T (p.Arg3066Ser)
c.6795A>T (p.Arg2265Ser)
2g.237334654T>CCA431693366COL6A3c.1611-1106A>G
c.8583A>G (p.Arg2861=)
c.1328A>G
c.69A>G (p.Arg23=)
c.9201A>G (p.Arg3067=)
c.7377A>G (p.Arg2459=)
c.7380A>G (p.Arg2460=)
n.5643A>G
n.133A>G
c.8601A>G (p.Arg2867=)
c.7980A>G (p.Arg2660=)
c.8700A>G (p.Arg2900=)
c.9198A>G (p.Arg3066=)
c.6795A>G (p.Arg2265=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237334654T>GCA351188055COL6A3c.1611-1106A>C
c.8583A>C (p.Arg2861Ser)
c.1328A>C
c.69A>C (p.Arg23Ser)
c.9201A>C (p.Arg3067Ser)
c.7377A>C (p.Arg2459Ser)
c.7380A>C (p.Arg2460Ser)
n.5643A>C
n.133A>C
c.8601A>C (p.Arg2867Ser)
c.7980A>C (p.Arg2660Ser)
c.8700A>C (p.Arg2900Ser)
c.9198A>C (p.Arg3066Ser)
c.6795A>C (p.Arg2265Ser)
 ClinVar
2g.237334654T=CA1337606389COL6A3c.1611-1106A=
c.8583A= (p.Arg2861=)
c.1328A=
c.69A= (p.Arg23=)
c.9201A= (p.Arg3067=)
c.7377A= (p.Arg2459=)
c.7380A= (p.Arg2460=)
n.5643A=
n.133A=
c.8601A= (p.Arg2867=)
c.7980A= (p.Arg2660=)
c.8700A= (p.Arg2900=)
c.9198A= (p.Arg3066=)
c.6795A= (p.Arg2265=)
2g.237334655C>ACA351188061COL6A3c.1611-1107G>T
c.8582G>T (p.Arg2861Ile)
c.1327G>T
c.68G>T (p.Arg23Ile)
c.9200G>T (p.Arg3067Ile)
c.7376G>T (p.Arg2459Ile)
c.7379G>T (p.Arg2460Ile)
n.5642G>T
n.132G>T
c.8600G>T (p.Arg2867Ile)
c.7979G>T (p.Arg2660Ile)
c.8699G>T (p.Arg2900Ile)
c.9197G>T (p.Arg3066Ile)
c.6794G>T (p.Arg2265Ile)
 dbSNP
2g.237334655C>GCA351188059COL6A3c.1611-1107G>C
c.8582G>C (p.Arg2861Thr)
c.1327G>C
c.68G>C (p.Arg23Thr)
c.9200G>C (p.Arg3067Thr)
c.7376G>C (p.Arg2459Thr)
c.7379G>C (p.Arg2460Thr)
n.5642G>C
n.132G>C
c.8600G>C (p.Arg2867Thr)
c.7979G>C (p.Arg2660Thr)
c.8699G>C (p.Arg2900Thr)
c.9197G>C (p.Arg3066Thr)
c.6794G>C (p.Arg2265Thr)
 gnomAD v4
2g.237334655C>TCA351188057COL6A3c.1611-1107G>A
c.8582G>A (p.Arg2861Lys)
c.1327G>A
c.68G>A (p.Arg23Lys)
c.9200G>A (p.Arg3067Lys)
c.7376G>A (p.Arg2459Lys)
c.7379G>A (p.Arg2460Lys)
n.5642G>A
n.132G>A
c.8600G>A (p.Arg2867Lys)
c.7979G>A (p.Arg2660Lys)
c.8699G>A (p.Arg2900Lys)
c.9197G>A (p.Arg3066Lys)
c.6794G>A (p.Arg2265Lys)
2g.237334656T>ACA351188064COL6A3c.1611-1108A>T
c.8581A>T (p.Arg2861Ter)
c.1326A>T
c.67A>T (p.Arg23Ter)
c.9199A>T (p.Arg3067Ter)
c.7375A>T (p.Arg2459Ter)
c.7378A>T (p.Arg2460Ter)
n.5641A>T
n.131A>T
c.8599A>T (p.Arg2867Ter)
c.7978A>T (p.Arg2660Ter)
c.8698A>T (p.Arg2900Ter)
c.9196A>T (p.Arg3066Ter)
c.6793A>T (p.Arg2265Ter)
2g.237334656T>CCA2187333COL6A3c.1611-1108A>G
c.8581A>G (p.Arg2861Gly)
c.1326A>G
c.67A>G (p.Arg23Gly)
c.9199A>G (p.Arg3067Gly)
c.7375A>G (p.Arg2459Gly)
c.7378A>G (p.Arg2460Gly)
n.5641A>G
n.131A>G
c.8599A>G (p.Arg2867Gly)
c.7978A>G (p.Arg2660Gly)
c.8698A>G (p.Arg2900Gly)
c.9196A>G (p.Arg3066Gly)
c.6793A>G (p.Arg2265Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334656T>GCA431693367COL6A3c.1611-1108A>C
c.8581A>C (p.Arg2861=)
c.1326A>C
c.67A>C (p.Arg23=)
c.9199A>C (p.Arg3067=)
c.7375A>C (p.Arg2459=)
c.7378A>C (p.Arg2460=)
n.5641A>C
n.131A>C
c.8599A>C (p.Arg2867=)
c.7978A>C (p.Arg2660=)
c.8698A>C (p.Arg2900=)
c.9196A>C (p.Arg3066=)
c.6793A>C (p.Arg2265=)
2g.237334656T=CA1337606390COL6A3c.1611-1108A=
c.8581A= (p.Arg2861=)
c.1326A=
c.67A= (p.Arg23=)
c.9199A= (p.Arg3067=)
c.7375A= (p.Arg2459=)
c.7378A= (p.Arg2460=)
n.5641A=
n.131A=
c.8599A= (p.Arg2867=)
c.7978A= (p.Arg2660=)
c.8698A= (p.Arg2900=)
c.9196A= (p.Arg3066=)
c.6793A= (p.Arg2265=)
2g.237334657G>ACA2187334COL6A3c.1611-1109C>T
c.8580C>T (p.Val2860=)
c.1325C>T
c.66C>T (p.Val22=)
c.9198C>T (p.Val3066=)
c.7374C>T (p.Val2458=)
c.7377C>T (p.Val2459=)
n.5640C>T
n.130C>T
c.8598C>T (p.Val2866=)
c.7977C>T (p.Val2659=)
c.8697C>T (p.Val2899=)
c.9195C>T (p.Val3065=)
c.6792C>T (p.Val2264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334657G>CCA431693368COL6A3c.1611-1109C>G
c.8580C>G (p.Val2860=)
c.1325C>G
c.66C>G (p.Val22=)
c.9198C>G (p.Val3066=)
c.7374C>G (p.Val2458=)
c.7377C>G (p.Val2459=)
n.5640C>G
n.130C>G
c.8598C>G (p.Val2866=)
c.7977C>G (p.Val2659=)
c.8697C>G (p.Val2899=)
c.9195C>G (p.Val3065=)
c.6792C>G (p.Val2264=)
2g.237334657G=CA1337606391COL6A3c.1611-1109C=
c.8580C= (p.Val2860=)
c.1325C=
c.66C= (p.Val22=)
c.9198C= (p.Val3066=)
c.7374C= (p.Val2458=)
c.7377C= (p.Val2459=)
n.5640C=
n.130C=
c.8598C= (p.Val2866=)
c.7977C= (p.Val2659=)
c.8697C= (p.Val2899=)
c.9195C= (p.Val3065=)
c.6792C= (p.Val2264=)
2g.237334657G>TCA431693369COL6A3c.1611-1109C>A
c.8580C>A (p.Val2860=)
c.1325C>A
c.66C>A (p.Val22=)
c.9198C>A (p.Val3066=)
c.7374C>A (p.Val2458=)
c.7377C>A (p.Val2459=)
n.5640C>A
n.130C>A
c.8598C>A (p.Val2866=)
c.7977C>A (p.Val2659=)
c.8697C>A (p.Val2899=)
c.9195C>A (p.Val3065=)
c.6792C>A (p.Val2264=)
2g.237334658A=CA1337606392COL6A3c.1611-1110T=
c.8579T= (p.Val2860=)
c.1324T=
c.65T= (p.Val22=)
c.9197T= (p.Val3066=)
c.7373T= (p.Val2458=)
c.7376T= (p.Val2459=)
n.5639T=
n.129T=
c.8597T= (p.Val2866=)
c.7976T= (p.Val2659=)
c.8696T= (p.Val2899=)
c.9194T= (p.Val3065=)
c.6791T= (p.Val2264=)
2g.237334658A>CCA351188072COL6A3c.1611-1110T>G
c.8579T>G (p.Val2860Gly)
c.1324T>G
c.65T>G (p.Val22Gly)
c.9197T>G (p.Val3066Gly)
c.7373T>G (p.Val2458Gly)
c.7376T>G (p.Val2459Gly)
n.5639T>G
n.129T>G
c.8597T>G (p.Val2866Gly)
c.7976T>G (p.Val2659Gly)
c.8696T>G (p.Val2899Gly)
c.9194T>G (p.Val3065Gly)
c.6791T>G (p.Val2264Gly)
2g.237334658A>GCA2187336COL6A3c.1611-1110T>C
c.8579T>C (p.Val2860Ala)
c.1324T>C
c.65T>C (p.Val22Ala)
c.9197T>C (p.Val3066Ala)
c.7373T>C (p.Val2458Ala)
c.7376T>C (p.Val2459Ala)
n.5639T>C
n.129T>C
c.8597T>C (p.Val2866Ala)
c.7976T>C (p.Val2659Ala)
c.8696T>C (p.Val2899Ala)
c.9194T>C (p.Val3065Ala)
c.6791T>C (p.Val2264Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334658A>TCA2187335COL6A3c.1611-1110T>A
c.8579T>A (p.Val2860Asp)
c.1324T>A
c.65T>A (p.Val22Asp)
c.9197T>A (p.Val3066Asp)
c.7373T>A (p.Val2458Asp)
c.7376T>A (p.Val2459Asp)
n.5639T>A
n.129T>A
c.8597T>A (p.Val2866Asp)
c.7976T>A (p.Val2659Asp)
c.8696T>A (p.Val2899Asp)
c.9194T>A (p.Val3065Asp)
c.6791T>A (p.Val2264Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334659C>ACA351188085COL6A3c.1611-1111G>T
c.8578G>T (p.Val2860Phe)
c.1323G>T
c.64G>T (p.Val22Phe)
c.9196G>T (p.Val3066Phe)
c.7372G>T (p.Val2458Phe)
c.7375G>T (p.Val2459Phe)
n.5638G>T
n.128G>T
c.8596G>T (p.Val2866Phe)
c.7975G>T (p.Val2659Phe)
c.8695G>T (p.Val2899Phe)
c.9193G>T (p.Val3065Phe)
c.6790G>T (p.Val2264Phe)
2g.237334659C=CA1337606393COL6A3c.1611-1111G=
c.8578G= (p.Val2860=)
c.1323G=
c.64G= (p.Val22=)
c.9196G= (p.Val3066=)
c.7372G= (p.Val2458=)
c.7375G= (p.Val2459=)
n.5638G=
n.128G=
c.8596G= (p.Val2866=)
c.7975G= (p.Val2659=)
c.8695G= (p.Val2899=)
c.9193G= (p.Val3065=)
c.6790G= (p.Val2264=)
2g.237334659C>GCA351188079COL6A3c.1611-1111G>C
c.8578G>C (p.Val2860Leu)
c.1323G>C
c.64G>C (p.Val22Leu)
c.9196G>C (p.Val3066Leu)
c.7372G>C (p.Val2458Leu)
c.7375G>C (p.Val2459Leu)
n.5638G>C
n.128G>C
c.8596G>C (p.Val2866Leu)
c.7975G>C (p.Val2659Leu)
c.8695G>C (p.Val2899Leu)
c.9193G>C (p.Val3065Leu)
c.6790G>C (p.Val2264Leu)
2g.237334659C>TCA351188082COL6A3c.1611-1111G>A
c.8578G>A (p.Val2860Ile)
c.1323G>A
c.64G>A (p.Val22Ile)
c.9196G>A (p.Val3066Ile)
c.7372G>A (p.Val2458Ile)
c.7375G>A (p.Val2459Ile)
n.5638G>A
n.128G>A
c.8596G>A (p.Val2866Ile)
c.7975G>A (p.Val2659Ile)
c.8695G>A (p.Val2899Ile)
c.9193G>A (p.Val3065Ile)
c.6790G>A (p.Val2264Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237334660C>ACA67829391COL6A3c.1611-1112G>T
c.8577G>T (p.Gln2859His)
c.1322G>T
c.63G>T (p.Gln21His)
c.9195G>T (p.Gln3065His)
c.7371G>T (p.Gln2457His)
c.7374G>T (p.Gln2458His)
n.5637G>T
n.127G>T
c.8595G>T (p.Gln2865His)
c.7974G>T (p.Gln2658His)
c.8694G>T (p.Gln2898His)
c.9192G>T (p.Gln3064His)
c.6789G>T (p.Gln2263His)
 dbSNP
2g.237334660C=CA1337606394COL6A3c.1611-1112G=
c.8577G= (p.Gln2859=)
c.1322G=
c.63G= (p.Gln21=)
c.9195G= (p.Gln3065=)
c.7371G= (p.Gln2457=)
c.7374G= (p.Gln2458=)
n.5637G=
n.127G=
c.8595G= (p.Gln2865=)
c.7974G= (p.Gln2658=)
c.8694G= (p.Gln2898=)
c.9192G= (p.Gln3064=)
c.6789G= (p.Gln2263=)
2g.237334660C>GCA351188087COL6A3c.1611-1112G>C
c.8577G>C (p.Gln2859His)
c.1322G>C
c.63G>C (p.Gln21His)
c.9195G>C (p.Gln3065His)
c.7371G>C (p.Gln2457His)
c.7374G>C (p.Gln2458His)
n.5637G>C
n.127G>C
c.8595G>C (p.Gln2865His)
c.7974G>C (p.Gln2658His)
c.8694G>C (p.Gln2898His)
c.9192G>C (p.Gln3064His)
c.6789G>C (p.Gln2263His)
2g.237334660C>TCA431698427COL6A3c.1611-1112G>A
c.8577G>A (p.Gln2859=)
c.1322G>A
c.63G>A (p.Gln21=)
c.9195G>A (p.Gln3065=)
c.7371G>A (p.Gln2457=)
c.7374G>A (p.Gln2458=)
n.5637G>A
n.127G>A
c.8595G>A (p.Gln2865=)
c.7974G>A (p.Gln2658=)
c.8694G>A (p.Gln2898=)
c.9192G>A (p.Gln3064=)
c.6789G>A (p.Gln2263=)
 gnomAD v4
2g.237334661T>ACA351188090COL6A3c.1611-1113A>T
c.8576A>T (p.Gln2859Leu)
c.1321A>T
c.62A>T (p.Gln21Leu)
c.9194A>T (p.Gln3065Leu)
c.7370A>T (p.Gln2457Leu)
c.7373A>T (p.Gln2458Leu)
n.5636A>T
n.126A>T
c.8594A>T (p.Gln2865Leu)
c.7973A>T (p.Gln2658Leu)
c.8693A>T (p.Gln2898Leu)
c.9191A>T (p.Gln3064Leu)
c.6788A>T (p.Gln2263Leu)
2g.237334661T>CCA351188093COL6A3c.1611-1113A>G
c.8576A>G (p.Gln2859Arg)
c.1321A>G
c.62A>G (p.Gln21Arg)
c.9194A>G (p.Gln3065Arg)
c.7370A>G (p.Gln2457Arg)
c.7373A>G (p.Gln2458Arg)
n.5636A>G
n.126A>G
c.8594A>G (p.Gln2865Arg)
c.7973A>G (p.Gln2658Arg)
c.8693A>G (p.Gln2898Arg)
c.9191A>G (p.Gln3064Arg)
c.6788A>G (p.Gln2263Arg)
 gnomAD v4
2g.237334661T>GCA351188094COL6A3c.1611-1113A>C
c.8576A>C (p.Gln2859Pro)
c.1321A>C
c.62A>C (p.Gln21Pro)
c.9194A>C (p.Gln3065Pro)
c.7370A>C (p.Gln2457Pro)
c.7373A>C (p.Gln2458Pro)
n.5636A>C
n.126A>C
c.8594A>C (p.Gln2865Pro)
c.7973A>C (p.Gln2658Pro)
c.8693A>C (p.Gln2898Pro)
c.9191A>C (p.Gln3064Pro)
c.6788A>C (p.Gln2263Pro)
2g.237334662G>ACA10606202COL6A3c.1611-1114C>T
c.8575C>T (p.Gln2859Ter)
c.1320C>T
c.61C>T (p.Gln21Ter)
c.9193C>T (p.Gln3065Ter)
c.7369C>T (p.Gln2457Ter)
c.7372C>T (p.Gln2458Ter)
n.5635C>T
n.125C>T
c.8593C>T (p.Gln2865Ter)
c.7972C>T (p.Gln2658Ter)
c.8692C>T (p.Gln2898Ter)
c.9190C>T (p.Gln3064Ter)
c.6787C>T (p.Gln2263Ter)
 ClinVar dbSNP gnomAD v4
2g.237334662G>CCA351188097COL6A3c.1611-1114C>G
c.8575C>G (p.Gln2859Glu)
c.1320C>G
c.61C>G (p.Gln21Glu)
c.9193C>G (p.Gln3065Glu)
c.7369C>G (p.Gln2457Glu)
c.7372C>G (p.Gln2458Glu)
n.5635C>G
n.125C>G
c.8593C>G (p.Gln2865Glu)
c.7972C>G (p.Gln2658Glu)
c.8692C>G (p.Gln2898Glu)
c.9190C>G (p.Gln3064Glu)
c.6787C>G (p.Gln2263Glu)
2g.237334662G=CA1337606395COL6A3c.1611-1114C=
c.8575C= (p.Gln2859=)
c.1320C=
c.61C= (p.Gln21=)
c.9193C= (p.Gln3065=)
c.7369C= (p.Gln2457=)
c.7372C= (p.Gln2458=)
n.5635C=
n.125C=
c.8593C= (p.Gln2865=)
c.7972C= (p.Gln2658=)
c.8692C= (p.Gln2898=)
c.9190C= (p.Gln3064=)
c.6787C= (p.Gln2263=)
2g.237334662G>TCA351188100COL6A3c.1611-1114C>A
c.8575C>A (p.Gln2859Lys)
c.1320C>A
c.61C>A (p.Gln21Lys)
c.9193C>A (p.Gln3065Lys)
c.7369C>A (p.Gln2457Lys)
c.7372C>A (p.Gln2458Lys)
n.5635C>A
n.125C>A
c.8593C>A (p.Gln2865Lys)
c.7972C>A (p.Gln2658Lys)
c.8692C>A (p.Gln2898Lys)
c.9190C>A (p.Gln3064Lys)
c.6787C>A (p.Gln2263Lys)
2g.237334663A=CA1337606396COL6A3c.1611-1115T=
c.8574T= (p.Ser2858=)
c.1319T=
c.60T= (p.Ser20=)
c.9192T= (p.Ser3064=)
c.7368T= (p.Ser2456=)
c.7371T= (p.Ser2457=)
n.5634T=
n.124T=
c.8592T= (p.Ser2864=)
c.7971T= (p.Ser2657=)
c.8691T= (p.Ser2897=)
c.9189T= (p.Ser3063=)
c.6786T= (p.Ser2262=)
2g.237334663A>CCA431698450COL6A3c.1611-1115T>G
c.8574T>G (p.Ser2858=)
c.1319T>G
c.60T>G (p.Ser20=)
c.9192T>G (p.Ser3064=)
c.7368T>G (p.Ser2456=)
c.7371T>G (p.Ser2457=)
n.5634T>G
n.124T>G
c.8592T>G (p.Ser2864=)
c.7971T>G (p.Ser2657=)
c.8691T>G (p.Ser2897=)
c.9189T>G (p.Ser3063=)
c.6786T>G (p.Ser2262=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237334663A>GCA431698443COL6A3c.1611-1115T>C
c.8574T>C (p.Ser2858=)
c.1319T>C
c.60T>C (p.Ser20=)
c.9192T>C (p.Ser3064=)
c.7368T>C (p.Ser2456=)
c.7371T>C (p.Ser2457=)
n.5634T>C
n.124T>C
c.8592T>C (p.Ser2864=)
c.7971T>C (p.Ser2657=)
c.8691T>C (p.Ser2897=)
c.9189T>C (p.Ser3063=)
c.6786T>C (p.Ser2262=)
2g.237334663A>TCA431698446COL6A3c.1611-1115T>A
c.8574T>A (p.Ser2858=)
c.1319T>A
c.60T>A (p.Ser20=)
c.9192T>A (p.Ser3064=)
c.7368T>A (p.Ser2456=)
c.7371T>A (p.Ser2457=)
n.5634T>A
n.124T>A
c.8592T>A (p.Ser2864=)
c.7971T>A (p.Ser2657=)
c.8691T>A (p.Ser2897=)
c.9189T>A (p.Ser3063=)
c.6786T>A (p.Ser2262=)
2g.237334664G>ACA351188104COL6A3c.1611-1116C>T
c.8573C>T (p.Ser2858Phe)
c.1318C>T
c.59C>T (p.Ser20Phe)
c.9191C>T (p.Ser3064Phe)
c.7367C>T (p.Ser2456Phe)
c.7370C>T (p.Ser2457Phe)
n.5633C>T
n.123C>T
c.8591C>T (p.Ser2864Phe)
c.7970C>T (p.Ser2657Phe)
c.8690C>T (p.Ser2897Phe)
c.9188C>T (p.Ser3063Phe)
c.6785C>T (p.Ser2262Phe)
2g.237334664G>CCA351188106COL6A3c.1611-1116C>G
c.8573C>G (p.Ser2858Cys)
c.1318C>G
c.59C>G (p.Ser20Cys)
c.9191C>G (p.Ser3064Cys)
c.7367C>G (p.Ser2456Cys)
c.7370C>G (p.Ser2457Cys)
n.5633C>G
n.123C>G
c.8591C>G (p.Ser2864Cys)
c.7970C>G (p.Ser2657Cys)
c.8690C>G (p.Ser2897Cys)
c.9188C>G (p.Ser3063Cys)
c.6785C>G (p.Ser2262Cys)
2g.237334664G>TCA351188109COL6A3c.1611-1116C>A
c.8573C>A (p.Ser2858Tyr)
c.1318C>A
c.59C>A (p.Ser20Tyr)
c.9191C>A (p.Ser3064Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7370C>A (p.Ser2457Tyr)
n.5633C>A
n.123C>A
c.8591C>A (p.Ser2864Tyr)
c.7970C>A (p.Ser2657Tyr)
c.8690C>A (p.Ser2897Tyr)
c.9188C>A (p.Ser3063Tyr)
c.6785C>A (p.Ser2262Tyr)
 gnomAD v4
2g.237334665A>CCA351188111COL6A3c.1611-1117T>G
c.8572T>G (p.Ser2858Ala)
c.1317T>G
c.58T>G (p.Ser20Ala)
c.9190T>G (p.Ser3064Ala)
c.7366T>G (p.Ser2456Ala)
c.7369T>G (p.Ser2457Ala)
n.5632T>G
n.122T>G
c.8590T>G (p.Ser2864Ala)
c.7969T>G (p.Ser2657Ala)
c.8689T>G (p.Ser2897Ala)
c.9187T>G (p.Ser3063Ala)
c.6784T>G (p.Ser2262Ala)
2g.237334665A>GCA351188113COL6A3c.1611-1117T>C
c.8572T>C (p.Ser2858Pro)
c.1317T>C
c.58T>C (p.Ser20Pro)
c.9190T>C (p.Ser3064Pro)
c.7366T>C (p.Ser2456Pro)
c.7369T>C (p.Ser2457Pro)
n.5632T>C
n.122T>C
c.8590T>C (p.Ser2864Pro)
c.7969T>C (p.Ser2657Pro)
c.8689T>C (p.Ser2897Pro)
c.9187T>C (p.Ser3063Pro)
c.6784T>C (p.Ser2262Pro)
2g.237334665A>TCA351188114COL6A3c.1611-1117T>A
c.8572T>A (p.Ser2858Thr)
c.1317T>A
c.58T>A (p.Ser20Thr)
c.9190T>A (p.Ser3064Thr)
c.7366T>A (p.Ser2456Thr)
c.7369T>A (p.Ser2457Thr)
n.5632T>A
n.122T>A
c.8590T>A (p.Ser2864Thr)
c.7969T>A (p.Ser2657Thr)
c.8689T>A (p.Ser2897Thr)
c.9187T>A (p.Ser3063Thr)
c.6784T>A (p.Ser2262Thr)
2g.237334666C>ACA351188117COL6A3c.1611-1118G>T
c.8571G>T (p.Arg2857Ser)
c.1316G>T
c.57G>T (p.Arg19Ser)
c.9189G>T (p.Arg3063Ser)
c.7365G>T (p.Arg2455Ser)
c.7368G>T (p.Arg2456Ser)
n.5631G>T
n.121G>T
c.8589G>T (p.Arg2863Ser)
c.7968G>T (p.Arg2656Ser)
c.8688G>T (p.Arg2896Ser)
c.9186G>T (p.Arg3062Ser)
c.6783G>T (p.Arg2261Ser)
2g.237334666C>GCA351188119COL6A3c.1611-1118G>C
c.8571G>C (p.Arg2857Ser)
c.1316G>C
c.57G>C (p.Arg19Ser)
c.9189G>C (p.Arg3063Ser)
c.7365G>C (p.Arg2455Ser)
c.7368G>C (p.Arg2456Ser)
n.5631G>C
n.121G>C
c.8589G>C (p.Arg2863Ser)
c.7968G>C (p.Arg2656Ser)
c.8688G>C (p.Arg2896Ser)
c.9186G>C (p.Arg3062Ser)
c.6783G>C (p.Arg2261Ser)
2g.237334666C>TCA431698464COL6A3c.1611-1118G>A
c.8571G>A (p.Arg2857=)
c.1316G>A
c.57G>A (p.Arg19=)
c.9189G>A (p.Arg3063=)
c.7365G>A (p.Arg2455=)
c.7368G>A (p.Arg2456=)
n.5631G>A
n.121G>A
c.8589G>A (p.Arg2863=)
c.7968G>A (p.Arg2656=)
c.8688G>A (p.Arg2896=)
c.9186G>A (p.Arg3062=)
c.6783G>A (p.Arg2261=)
2g.237334667C>ACA351188122COL6A3c.1611-1119G>T
c.8570G>T (p.Arg2857Met)
c.1315G>T
c.56G>T (p.Arg19Met)
c.9188G>T (p.Arg3063Met)
c.7364G>T (p.Arg2455Met)
c.7367G>T (p.Arg2456Met)
n.5630G>T
n.120G>T
c.8588G>T (p.Arg2863Met)
c.7967G>T (p.Arg2656Met)
c.8687G>T (p.Arg2896Met)
c.9185G>T (p.Arg3062Met)
c.6782G>T (p.Arg2261Met)
2g.237334667C=CA1337606397COL6A3c.1611-1119G=
c.8570G= (p.Arg2857=)
c.1315G=
c.56G= (p.Arg19=)
c.9188G= (p.Arg3063=)
c.7364G= (p.Arg2455=)
c.7367G= (p.Arg2456=)
n.5630G=
n.120G=
c.8588G= (p.Arg2863=)
c.7967G= (p.Arg2656=)
c.8687G= (p.Arg2896=)
c.9185G= (p.Arg3062=)
c.6782G= (p.Arg2261=)
2g.237334667C>GCA351188124COL6A3c.1611-1119G>C
c.8570G>C (p.Arg2857Thr)
c.1315G>C
c.56G>C (p.Arg19Thr)
c.9188G>C (p.Arg3063Thr)
c.7364G>C (p.Arg2455Thr)
c.7367G>C (p.Arg2456Thr)
n.5630G>C
n.120G>C
c.8588G>C (p.Arg2863Thr)
c.7967G>C (p.Arg2656Thr)
c.8687G>C (p.Arg2896Thr)
c.9185G>C (p.Arg3062Thr)
c.6782G>C (p.Arg2261Thr)
2g.237334667C>TCA2187337COL6A3c.1611-1119G>A
c.8570G>A (p.Arg2857Lys)
c.1315G>A
c.56G>A (p.Arg19Lys)
c.9188G>A (p.Arg3063Lys)
c.7364G>A (p.Arg2455Lys)
c.7367G>A (p.Arg2456Lys)
n.5630G>A
n.120G>A
c.8588G>A (p.Arg2863Lys)
c.7967G>A (p.Arg2656Lys)
c.8687G>A (p.Arg2896Lys)
c.9185G>A (p.Arg3062Lys)
c.6782G>A (p.Arg2261Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237334668T>ACA351188128COL6A3c.1611-1120A>T
c.8569A>T (p.Arg2857Trp)
c.1314A>T
c.55A>T (p.Arg19Trp)
c.9187A>T (p.Arg3063Trp)
c.7363A>T (p.Arg2455Trp)
c.7366A>T (p.Arg2456Trp)
n.5629A>T
n.119A>T
c.8587A>T (p.Arg2863Trp)
c.7966A>T (p.Arg2656Trp)
c.8686A>T (p.Arg2896Trp)
c.9184A>T (p.Arg3062Trp)
c.6781A>T (p.Arg2261Trp)
2g.237334668T>CCA351188131COL6A3c.1611-1120A>G
c.8569A>G (p.Arg2857Gly)
c.1314A>G
c.55A>G (p.Arg19Gly)
c.9187A>G (p.Arg3063Gly)
c.7363A>G (p.Arg2455Gly)
c.7366A>G (p.Arg2456Gly)
n.5629A>G
n.119A>G
c.8587A>G (p.Arg2863Gly)
c.7966A>G (p.Arg2656Gly)
c.8686A>G (p.Arg2896Gly)
c.9184A>G (p.Arg3062Gly)
c.6781A>G (p.Arg2261Gly)
2g.237334668T>GCA431698476COL6A3c.1611-1120A>C
c.8569A>C (p.Arg2857=)
c.1314A>C
c.55A>C (p.Arg19=)
c.9187A>C (p.Arg3063=)
c.7363A>C (p.Arg2455=)
c.7366A>C (p.Arg2456=)
n.5629A>C
n.119A>C
c.8587A>C (p.Arg2863=)
c.7966A>C (p.Arg2656=)
c.8686A>C (p.Arg2896=)
c.9184A>C (p.Arg3062=)
c.6781A>C (p.Arg2261=)
2g.237334669C>ACA431698482COL6A3c.1611-1121G>T
c.8568G>T (p.Leu2856=)
c.1313G>T
c.54G>T (p.Leu18=)
c.9186G>T (p.Leu3062=)
c.7362G>T (p.Leu2454=)
c.7365G>T (p.Leu2455=)
n.5628G>T
n.118G>T
c.8586G>T (p.Leu2862=)
c.7965G>T (p.Leu2655=)
c.8685G>T (p.Leu2895=)
c.9183G>T (p.Leu3061=)
c.6780G>T (p.Leu2260=)
2g.237334669C>GCA431698486COL6A3c.1611-1121G>C
c.8568G>C (p.Leu2856=)
c.1313G>C
c.54G>C (p.Leu18=)
c.9186G>C (p.Leu3062=)
c.7362G>C (p.Leu2454=)
c.7365G>C (p.Leu2455=)
n.5628G>C
n.118G>C
c.8586G>C (p.Leu2862=)
c.7965G>C (p.Leu2655=)
c.8685G>C (p.Leu2895=)
c.9183G>C (p.Leu3061=)
c.6780G>C (p.Leu2260=)
2g.237334669C>TCA431698488COL6A3c.1611-1121G>A
c.8568G>A (p.Leu2856=)
c.1313G>A
c.54G>A (p.Leu18=)
c.9186G>A (p.Leu3062=)
c.7362G>A (p.Leu2454=)
c.7365G>A (p.Leu2455=)
n.5628G>A
n.118G>A
c.8586G>A (p.Leu2862=)
c.7965G>A (p.Leu2655=)
c.8685G>A (p.Leu2895=)
c.9183G>A (p.Leu3061=)
c.6780G>A (p.Leu2260=)
2g.237334670A=CA1337606398COL6A3c.1611-1122T=
c.8567T= (p.Leu2856=)
c.1312T=
c.53T= (p.Leu18=)
c.9185T= (p.Leu3062=)
c.7361T= (p.Leu2454=)
c.7364T= (p.Leu2455=)
n.5627T=
n.117T=
c.8585T= (p.Leu2862=)
c.7964T= (p.Leu2655=)
c.8684T= (p.Leu2895=)
c.9182T= (p.Leu3061=)
c.6779T= (p.Leu2260=)
2g.237334670A>CCA351188133COL6A3c.1611-1122T>G
c.8567T>G (p.Leu2856Arg)
c.1312T>G
c.53T>G (p.Leu18Arg)
c.9185T>G (p.Leu3062Arg)
c.7361T>G (p.Leu2454Arg)
c.7364T>G (p.Leu2455Arg)
n.5627T>G
n.117T>G
c.8585T>G (p.Leu2862Arg)
c.7964T>G (p.Leu2655Arg)
c.8684T>G (p.Leu2895Arg)
c.9182T>G (p.Leu3061Arg)
c.6779T>G (p.Leu2260Arg)
 dbSNP gnomAD v4
2g.237334670A>GCA351188138COL6A3c.1611-1122T>C
c.8567T>C (p.Leu2856Pro)
c.1312T>C
c.53T>C (p.Leu18Pro)
c.9185T>C (p.Leu3062Pro)
c.7361T>C (p.Leu2454Pro)
c.7364T>C (p.Leu2455Pro)
n.5627T>C
n.117T>C
c.8585T>C (p.Leu2862Pro)
c.7964T>C (p.Leu2655Pro)
c.8684T>C (p.Leu2895Pro)
c.9182T>C (p.Leu3061Pro)
c.6779T>C (p.Leu2260Pro)
2g.237334670A>TCA351188135COL6A3c.1611-1122T>A
c.8567T>A (p.Leu2856Gln)
c.1312T>A
c.53T>A (p.Leu18Gln)
c.9185T>A (p.Leu3062Gln)
c.7361T>A (p.Leu2454Gln)
c.7364T>A (p.Leu2455Gln)
n.5627T>A
n.117T>A
c.8585T>A (p.Leu2862Gln)
c.7964T>A (p.Leu2655Gln)
c.8684T>A (p.Leu2895Gln)
c.9182T>A (p.Leu3061Gln)
c.6779T>A (p.Leu2260Gln)
2g.237334671G>ACA431698501COL6A3c.1611-1123C>T
c.8566C>T (p.Leu2856=)
c.1311C>T
c.52C>T (p.Leu18=)
c.9184C>T (p.Leu3062=)
c.7360C>T (p.Leu2454=)
c.7363C>T (p.Leu2455=)
n.5626C>T
n.116C>T
c.8584C>T (p.Leu2862=)
c.7963C>T (p.Leu2655=)
c.8683C>T (p.Leu2895=)
c.9181C>T (p.Leu3061=)
c.6778C>T (p.Leu2260=)
2g.237334671G>CCA351188141COL6A3c.1611-1123C>G
c.8566C>G (p.Leu2856Val)
c.1311C>G
c.52C>G (p.Leu18Val)
c.9184C>G (p.Leu3062Val)
c.7360C>G (p.Leu2454Val)
c.7363C>G (p.Leu2455Val)
n.5626C>G
n.116C>G
c.8584C>G (p.Leu2862Val)
c.7963C>G (p.Leu2655Val)
c.8683C>G (p.Leu2895Val)
c.9181C>G (p.Leu3061Val)
c.6778C>G (p.Leu2260Val)
2g.237334671G>TCA351188142COL6A3c.1611-1123C>A
c.8566C>A (p.Leu2856Met)
c.1311C>A
c.52C>A (p.Leu18Met)
c.9184C>A (p.Leu3062Met)
c.7360C>A (p.Leu2454Met)
c.7363C>A (p.Leu2455Met)
n.5626C>A
n.116C>A
c.8584C>A (p.Leu2862Met)
c.7963C>A (p.Leu2655Met)
c.8683C>A (p.Leu2895Met)
c.9181C>A (p.Leu3061Met)
c.6778C>A (p.Leu2260Met)
2g.237334672G>ACA431698505COL6A3c.1611-1124C>T
c.8565C>T (p.Tyr2855=)
c.1310C>T
c.51C>T (p.Tyr17=)
c.9183C>T (p.Tyr3061=)
c.7359C>T (p.Tyr2453=)
c.7362C>T (p.Tyr2454=)
n.5625C>T
n.115C>T
c.8583C>T (p.Tyr2861=)
c.7962C>T (p.Tyr2654=)
c.8682C>T (p.Tyr2894=)
c.9180C>T (p.Tyr3060=)
c.6777C>T (p.Tyr2259=)
2g.237334672G>CCA351188144COL6A3c.1611-1124C>G
c.8565C>G (p.Tyr2855Ter)
c.1310C>G
c.51C>G (p.Tyr17Ter)
c.9183C>G (p.Tyr3061Ter)
c.7359C>G (p.Tyr2453Ter)
c.7362C>G (p.Tyr2454Ter)
n.5625C>G
n.115C>G
c.8583C>G (p.Tyr2861Ter)
c.7962C>G (p.Tyr2654Ter)
c.8682C>G (p.Tyr2894Ter)
c.9180C>G (p.Tyr3060Ter)
c.6777C>G (p.Tyr2259Ter)
2g.237334672G>TCA351188147COL6A3c.1611-1124C>A
c.8565C>A (p.Tyr2855Ter)
c.1310C>A
c.51C>A (p.Tyr17Ter)
c.9183C>A (p.Tyr3061Ter)
c.7359C>A (p.Tyr2453Ter)
c.7362C>A (p.Tyr2454Ter)
n.5625C>A
n.115C>A
c.8583C>A (p.Tyr2861Ter)
c.7962C>A (p.Tyr2654Ter)
c.8682C>A (p.Tyr2894Ter)
c.9180C>A (p.Tyr3060Ter)
c.6777C>A (p.Tyr2259Ter)
2g.237334673T>ACA351188149COL6A3c.1611-1125A>T
c.8564A>T (p.Tyr2855Phe)
c.1309A>T
c.50A>T (p.Tyr17Phe)
c.9182A>T (p.Tyr3061Phe)
c.7358A>T (p.Tyr2453Phe)
c.7361A>T (p.Tyr2454Phe)
n.5624A>T
n.114A>T
c.8582A>T (p.Tyr2861Phe)
c.7961A>T (p.Tyr2654Phe)
c.8681A>T (p.Tyr2894Phe)
c.9179A>T (p.Tyr3060Phe)
c.6776A>T (p.Tyr2259Phe)
2g.237334673T>CCA351188152COL6A3c.1611-1125A>G
c.8564A>G (p.Tyr2855Cys)
c.1309A>G
c.50A>G (p.Tyr17Cys)
c.9182A>G (p.Tyr3061Cys)
c.7358A>G (p.Tyr2453Cys)
c.7361A>G (p.Tyr2454Cys)
n.5624A>G
n.114A>G
c.8582A>G (p.Tyr2861Cys)
c.7961A>G (p.Tyr2654Cys)
c.8681A>G (p.Tyr2894Cys)
c.9179A>G (p.Tyr3060Cys)
c.6776A>G (p.Tyr2259Cys)
2g.237334673T>GCA351188153COL6A3c.1611-1125A>C
c.8564A>C (p.Tyr2855Ser)
c.1309A>C
c.50A>C (p.Tyr17Ser)
c.9182A>C (p.Tyr3061Ser)
c.7358A>C (p.Tyr2453Ser)
c.7361A>C (p.Tyr2454Ser)
n.5624A>C
n.114A>C
c.8582A>C (p.Tyr2861Ser)
c.7961A>C (p.Tyr2654Ser)
c.8681A>C (p.Tyr2894Ser)
c.9179A>C (p.Tyr3060Ser)
c.6776A>C (p.Tyr2259Ser)
 ClinVar dbSNP gnomAD v2
2g.237334673T=CA1337606399COL6A3c.1611-1125A=
c.8564A= (p.Tyr2855=)
c.1309A=
c.50A= (p.Tyr17=)
c.9182A= (p.Tyr3061=)
c.7358A= (p.Tyr2453=)
c.7361A= (p.Tyr2454=)
n.5624A=
n.114A=
c.8582A= (p.Tyr2861=)
c.7961A= (p.Tyr2654=)
c.8681A= (p.Tyr2894=)
c.9179A= (p.Tyr3060=)
c.6776A= (p.Tyr2259=)
2g.237334674A>CCA351188156COL6A3c.1611-1126T>G
c.8563T>G (p.Tyr2855Asp)
c.1308T>G
c.49T>G (p.Tyr17Asp)
c.9181T>G (p.Tyr3061Asp)
c.7357T>G (p.Tyr2453Asp)
c.7360T>G (p.Tyr2454Asp)
n.5623T>G
n.113T>G
c.8581T>G (p.Tyr2861Asp)
c.7960T>G (p.Tyr2654Asp)
c.8680T>G (p.Tyr2894Asp)
c.9178T>G (p.Tyr3060Asp)
c.6775T>G (p.Tyr2259Asp)
2g.237334674A>GCA351188159COL6A3c.1611-1126T>C
c.8563T>C (p.Tyr2855His)
c.1308T>C
c.49T>C (p.Tyr17His)
c.9181T>C (p.Tyr3061His)
c.7357T>C (p.Tyr2453His)
c.7360T>C (p.Tyr2454His)
n.5623T>C
n.113T>C
c.8581T>C (p.Tyr2861His)
c.7960T>C (p.Tyr2654His)
c.8680T>C (p.Tyr2894His)
c.9178T>C (p.Tyr3060His)
c.6775T>C (p.Tyr2259His)
2g.237334674A>TCA351188162COL6A3c.1611-1126T>A
c.8563T>A (p.Tyr2855Asn)
c.1308T>A
c.49T>A (p.Tyr17Asn)
c.9181T>A (p.Tyr3061Asn)
c.7357T>A (p.Tyr2453Asn)
c.7360T>A (p.Tyr2454Asn)
n.5623T>A
n.113T>A
c.8581T>A (p.Tyr2861Asn)
c.7960T>A (p.Tyr2654Asn)
c.8680T>A (p.Tyr2894Asn)
c.9178T>A (p.Tyr3060Asn)
c.6775T>A (p.Tyr2259Asn)
2g.237334675G>ACA431698527COL6A3c.1611-1127C>T
c.8562C>T (p.Cys2854=)
c.1307C>T
c.48C>T (p.Cys16=)
c.9180C>T (p.Cys3060=)
c.7356C>T (p.Cys2452=)
c.7359C>T (p.Cys2453=)
n.5622C>T
n.112C>T
c.8580C>T (p.Cys2860=)
c.7959C>T (p.Cys2653=)
c.8679C>T (p.Cys2893=)
c.9177C>T (p.Cys3059=)
c.6774C>T (p.Cys2258=)
2g.237334675G>CCA2187338COL6A3c.1611-1127C>G
c.8562C>G (p.Cys2854Trp)
c.1307C>G
c.48C>G (p.Cys16Trp)
c.9180C>G (p.Cys3060Trp)
c.7356C>G (p.Cys2452Trp)
c.7359C>G (p.Cys2453Trp)
n.5622C>G
n.112C>G
c.8580C>G (p.Cys2860Trp)
c.7959C>G (p.Cys2653Trp)
c.8679C>G (p.Cys2893Trp)
c.9177C>G (p.Cys3059Trp)
c.6774C>G (p.Cys2258Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237334675G=CA1337606400COL6A3c.1611-1127C=
c.8562C= (p.Cys2854=)
c.1307C=
c.48C= (p.Cys16=)
c.9180C= (p.Cys3060=)
c.7356C= (p.Cys2452=)
c.7359C= (p.Cys2453=)
n.5622C=
n.112C=
c.8580C= (p.Cys2860=)
c.7959C= (p.Cys2653=)
c.8679C= (p.Cys2893=)
c.9177C= (p.Cys3059=)
c.6774C= (p.Cys2258=)
2g.237334675G>TCA351188165COL6A3c.1611-1127C>A
c.8562C>A (p.Cys2854Ter)
c.1307C>A
c.48C>A (p.Cys16Ter)
c.9180C>A (p.Cys3060Ter)
c.7356C>A (p.Cys2452Ter)
c.7359C>A (p.Cys2453Ter)
n.5622C>A
n.112C>A
c.8580C>A (p.Cys2860Ter)
c.7959C>A (p.Cys2653Ter)
c.8679C>A (p.Cys2893Ter)
c.9177C>A (p.Cys3059Ter)
c.6774C>A (p.Cys2258Ter)
2g.237334676C>ACA351188170COL6A3c.1611-1128G>T
c.8561G>T (p.Cys2854Phe)
c.1306G>T
c.47G>T (p.Cys16Phe)
c.9179G>T (p.Cys3060Phe)
c.7355G>T (p.Cys2452Phe)
c.7358G>T (p.Cys2453Phe)
n.5621G>T
n.111G>T
c.8579G>T (p.Cys2860Phe)
c.7958G>T (p.Cys2653Phe)
c.8678G>T (p.Cys2893Phe)
c.9176G>T (p.Cys3059Phe)
c.6773G>T (p.Cys2258Phe)
2g.237334676C=CA1337606401COL6A3c.1611-1128G=
c.8561G= (p.Cys2854=)
c.1306G=
c.47G= (p.Cys16=)
c.9179G= (p.Cys3060=)
c.7355G= (p.Cys2452=)
c.7358G= (p.Cys2453=)
n.5621G=
n.111G=
c.8579G= (p.Cys2860=)
c.7958G= (p.Cys2653=)
c.8678G= (p.Cys2893=)
c.9176G= (p.Cys3059=)
c.6773G= (p.Cys2258=)
2g.237334676C>GCA351188168COL6A3c.1611-1128G>C
c.8561G>C (p.Cys2854Ser)
c.1306G>C
c.47G>C (p.Cys16Ser)
c.9179G>C (p.Cys3060Ser)
c.7355G>C (p.Cys2452Ser)
c.7358G>C (p.Cys2453Ser)
n.5621G>C
n.111G>C
c.8579G>C (p.Cys2860Ser)
c.7958G>C (p.Cys2653Ser)
c.8678G>C (p.Cys2893Ser)
c.9176G>C (p.Cys3059Ser)
c.6773G>C (p.Cys2258Ser)
2g.237334676C>TCA351188167COL6A3c.1611-1128G>A
c.8561G>A (p.Cys2854Tyr)
c.1306G>A
c.47G>A (p.Cys16Tyr)
c.9179G>A (p.Cys3060Tyr)
c.7355G>A (p.Cys2452Tyr)
c.7358G>A (p.Cys2453Tyr)
n.5621G>A
n.111G>A
c.8579G>A (p.Cys2860Tyr)
c.7958G>A (p.Cys2653Tyr)
c.8678G>A (p.Cys2893Tyr)
c.9176G>A (p.Cys3059Tyr)
c.6773G>A (p.Cys2258Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.237334677A>CCA351188172COL6A3c.1611-1129T>G
c.8560T>G (p.Cys2854Gly)
c.1305T>G
c.46T>G (p.Cys16Gly)
c.9178T>G (p.Cys3060Gly)
c.7354T>G (p.Cys2452Gly)
c.7357T>G (p.Cys2453Gly)
n.5620T>G
n.110T>G
c.8578T>G (p.Cys2860Gly)
c.7957T>G (p.Cys2653Gly)
c.8677T>G (p.Cys2893Gly)
c.9175T>G (p.Cys3059Gly)
c.6772T>G (p.Cys2258Gly)
2g.237334677A>GCA351188173COL6A3c.1611-1129T>C
c.8560T>C (p.Cys2854Arg)
c.1305T>C
c.46T>C (p.Cys16Arg)
c.9178T>C (p.Cys3060Arg)
c.7354T>C (p.Cys2452Arg)
c.7357T>C (p.Cys2453Arg)
n.5620T>C
n.110T>C
c.8578T>C (p.Cys2860Arg)
c.7957T>C (p.Cys2653Arg)
c.8677T>C (p.Cys2893Arg)
c.9175T>C (p.Cys3059Arg)
c.6772T>C (p.Cys2258Arg)
2g.237334677A>TCA351188175COL6A3c.1611-1129T>A
c.8560T>A (p.Cys2854Ser)
c.1305T>A
c.46T>A (p.Cys16Ser)
c.9178T>A (p.Cys3060Ser)
c.7354T>A (p.Cys2452Ser)
c.7357T>A (p.Cys2453Ser)
n.5620T>A
n.110T>A
c.8578T>A (p.Cys2860Ser)
c.7957T>A (p.Cys2653Ser)
c.8677T>A (p.Cys2893Ser)
c.9175T>A (p.Cys3059Ser)
c.6772T>A (p.Cys2258Ser)
2g.237334678G>ACA431698544COL6A3c.1611-1130C>T
c.8559C>T (p.Val2853=)
c.1304C>T
c.45C>T (p.Val15=)
c.9177C>T (p.Val3059=)
c.7353C>T (p.Val2451=)
c.7356C>T (p.Val2452=)
n.5619C>T
n.109C>T
c.8577C>T (p.Val2859=)
c.7956C>T (p.Val2652=)
c.8676C>T (p.Val2892=)
c.9174C>T (p.Val3058=)
c.6771C>T (p.Val2257=)
 dbSNP
2g.237334678G>CCA431698546COL6A3c.1611-1130C>G
c.8559C>G (p.Val2853=)
c.1304C>G
c.45C>G (p.Val15=)
c.9177C>G (p.Val3059=)
c.7353C>G (p.Val2451=)
c.7356C>G (p.Val2452=)
n.5619C>G
n.109C>G
c.8577C>G (p.Val2859=)
c.7956C>G (p.Val2652=)
c.8676C>G (p.Val2892=)
c.9174C>G (p.Val3058=)
c.6771C>G (p.Val2257=)
2g.237334678G>TCA431698549COL6A3c.1611-1130C>A
c.8559C>A (p.Val2853=)
c.1304C>A
c.45C>A (p.Val15=)
c.9177C>A (p.Val3059=)
c.7353C>A (p.Val2451=)
c.7356C>A (p.Val2452=)
n.5619C>A
n.109C>A
c.8577C>A (p.Val2859=)
c.7956C>A (p.Val2652=)
c.8676C>A (p.Val2892=)
c.9174C>A (p.Val3058=)
c.6771C>A (p.Val2257=)

Number of alleles fetched