Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.102978820dupCA974318COL11A1c.2709+47dup (n.2709+47dup)
c.2592+47dup (n.2592+47dup)
c.2745+47dup (n.2745+47dup)
c.2361+47dup (n.2361+47dup)
c.2043+47dup
c.942+47dup (n.942+47dup)
c.297+47dup (n.297+47dup)
n.3123+47dup
n.3043+47dup
c.2862+47dup (n.2862+47dup)
c.2856+47dup (n.2856+47dup)
c.1260+47dup (n.1260+47dup)
n.3069+47dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978820delCA974316COL11A1c.2709+47del (n.2709+47del)
c.2592+47del (n.2592+47del)
c.2745+47del (n.2745+47del)
c.2361+47del (n.2361+47del)
c.2043+47del
c.942+47del (n.942+47del)
c.297+47del (n.297+47del)
n.3123+47del
n.3043+47del
c.2862+47del (n.2862+47del)
c.2856+47del (n.2856+47del)
c.1260+47del (n.1260+47del)
n.3069+47del
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102978816A=CA1145359895COL11A1c.2709+44T= (n.2709+44T=)
c.2592+44T= (n.2592+44T=)
c.2745+44T= (n.2745+44T=)
c.2361+44T= (n.2361+44T=)
c.2043+44T=
c.942+44T= (n.942+44T=)
c.297+44T= (n.297+44T=)
n.3123+44T=
n.3043+44T=
c.2862+44T= (n.2862+44T=)
c.2856+44T= (n.2856+44T=)
c.1260+44T= (n.1260+44T=)
n.3069+44T=
1g.102978816A>CCA974319COL11A1c.2709+44T>G (n.2709+44T>G)
c.2592+44T>G (n.2592+44T>G)
c.2745+44T>G (n.2745+44T>G)
c.2361+44T>G (n.2361+44T>G)
c.2043+44T>G
c.942+44T>G (n.942+44T>G)
c.297+44T>G (n.297+44T>G)
n.3123+44T>G
n.3043+44T>G
c.2862+44T>G (n.2862+44T>G)
c.2856+44T>G (n.2856+44T>G)
c.1260+44T>G (n.1260+44T>G)
n.3069+44T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978817A>CCA2646804923COL11A1c.2709+43T>G (n.2709+43T>G)
c.2592+43T>G (n.2592+43T>G)
c.2745+43T>G (n.2745+43T>G)
c.2361+43T>G (n.2361+43T>G)
c.2043+43T>G
c.942+43T>G (n.942+43T>G)
c.297+43T>G (n.297+43T>G)
n.3123+43T>G
n.3043+43T>G
c.2862+43T>G (n.2862+43T>G)
c.2856+43T>G (n.2856+43T>G)
c.1260+43T>G (n.1260+43T>G)
n.3069+43T>G
 gnomAD v4
1g.102978819A>TCA2646804924COL11A1c.2709+41T>A (n.2709+41T>A)
c.2592+41T>A (n.2592+41T>A)
c.2745+41T>A (n.2745+41T>A)
c.2361+41T>A (n.2361+41T>A)
c.2043+41T>A
c.942+41T>A (n.942+41T>A)
c.297+41T>A (n.297+41T>A)
n.3123+41T>A
n.3043+41T>A
c.2862+41T>A (n.2862+41T>A)
c.2856+41T>A (n.2856+41T>A)
c.1260+41T>A (n.1260+41T>A)
n.3069+41T>A
 gnomAD v4
1g.102978820A=CA1185271952COL11A1c.2709+40T= (n.2709+40T=)
c.2592+40T= (n.2592+40T=)
c.2745+40T= (n.2745+40T=)
c.2361+40T= (n.2361+40T=)
c.2043+40T=
c.942+40T= (n.942+40T=)
c.297+40T= (n.297+40T=)
n.3123+40T=
n.3043+40T=
c.2862+40T= (n.2862+40T=)
c.2856+40T= (n.2856+40T=)
c.1260+40T= (n.1260+40T=)
n.3069+40T=
1g.102978820A>GCA1005172409COL11A1c.2709+40T>C (n.2709+40T>C)
c.2592+40T>C (n.2592+40T>C)
c.2745+40T>C (n.2745+40T>C)
c.2361+40T>C (n.2361+40T>C)
c.2043+40T>C
c.942+40T>C (n.942+40T>C)
c.297+40T>C (n.297+40T>C)
n.3123+40T>C
n.3043+40T>C
c.2862+40T>C (n.2862+40T>C)
c.2856+40T>C (n.2856+40T>C)
c.1260+40T>C (n.1260+40T>C)
n.3069+40T>C
 dbSNP gnomAD v3 gnomAD v4
1g.102978820A>TCA2646804925COL11A1c.2709+40T>A (n.2709+40T>A)
c.2592+40T>A (n.2592+40T>A)
c.2745+40T>A (n.2745+40T>A)
c.2361+40T>A (n.2361+40T>A)
c.2043+40T>A
c.942+40T>A (n.942+40T>A)
c.297+40T>A (n.297+40T>A)
n.3123+40T>A
n.3043+40T>A
c.2862+40T>A (n.2862+40T>A)
c.2856+40T>A (n.2856+40T>A)
c.1260+40T>A (n.1260+40T>A)
n.3069+40T>A
 gnomAD v4
1g.102978821T>ACA524898506COL11A1c.2709+39A>T (n.2709+39A>T)
c.2592+39A>T (n.2592+39A>T)
c.2745+39A>T (n.2745+39A>T)
c.2361+39A>T (n.2361+39A>T)
c.2043+39A>T
c.942+39A>T (n.942+39A>T)
c.297+39A>T (n.297+39A>T)
n.3123+39A>T
n.3043+39A>T
c.2862+39A>T (n.2862+39A>T)
c.2856+39A>T (n.2856+39A>T)
c.1260+39A>T (n.1260+39A>T)
n.3069+39A>T
 dbSNP gnomAD v2 COSMIC
1g.102978821T>CCA2574449713COL11A1c.2709+39A>G (n.2709+39A>G)
c.2592+39A>G (n.2592+39A>G)
c.2745+39A>G (n.2745+39A>G)
c.2361+39A>G (n.2361+39A>G)
c.2043+39A>G
c.942+39A>G (n.942+39A>G)
c.297+39A>G (n.297+39A>G)
n.3123+39A>G
n.3043+39A>G
c.2862+39A>G (n.2862+39A>G)
c.2856+39A>G (n.2856+39A>G)
c.1260+39A>G (n.1260+39A>G)
n.3069+39A>G
1g.102978821T=CA1185271953COL11A1c.2709+39A= (n.2709+39A=)
c.2592+39A= (n.2592+39A=)
c.2745+39A= (n.2745+39A=)
c.2361+39A= (n.2361+39A=)
c.2043+39A=
c.942+39A= (n.942+39A=)
c.297+39A= (n.297+39A=)
n.3123+39A=
n.3043+39A=
c.2862+39A= (n.2862+39A=)
c.2856+39A= (n.2856+39A=)
c.1260+39A= (n.1260+39A=)
n.3069+39A=
1g.102978823T>ACA1185271955COL11A1c.2709+37A>T (n.2709+37A>T)
c.2592+37A>T (n.2592+37A>T)
c.2745+37A>T (n.2745+37A>T)
c.2361+37A>T (n.2361+37A>T)
c.2043+37A>T
c.942+37A>T (n.942+37A>T)
c.297+37A>T (n.297+37A>T)
n.3123+37A>T
n.3043+37A>T
c.2862+37A>T (n.2862+37A>T)
c.2856+37A>T (n.2856+37A>T)
c.1260+37A>T (n.1260+37A>T)
n.3069+37A>T
 dbSNP
1g.102978823T=CA1185271954COL11A1c.2709+37A= (n.2709+37A=)
c.2592+37A= (n.2592+37A=)
c.2745+37A= (n.2745+37A=)
c.2361+37A= (n.2361+37A=)
c.2043+37A=
c.942+37A= (n.942+37A=)
c.297+37A= (n.297+37A=)
n.3123+37A=
n.3043+37A=
c.2862+37A= (n.2862+37A=)
c.2856+37A= (n.2856+37A=)
c.1260+37A= (n.1260+37A=)
n.3069+37A=
1g.102978824A>GCA2646804926COL11A1c.2709+36T>C (n.2709+36T>C)
c.2592+36T>C (n.2592+36T>C)
c.2745+36T>C (n.2745+36T>C)
c.2361+36T>C (n.2361+36T>C)
c.2043+36T>C
c.942+36T>C (n.942+36T>C)
c.297+36T>C (n.297+36T>C)
n.3123+36T>C
n.3043+36T>C
c.2862+36T>C (n.2862+36T>C)
c.2856+36T>C (n.2856+36T>C)
c.1260+36T>C (n.1260+36T>C)
n.3069+36T>C
 gnomAD v4
1g.102978825C=CA1146787895COL11A1c.2709+35G= (n.2709+35G=)
c.2592+35G= (n.2592+35G=)
c.2745+35G= (n.2745+35G=)
c.2361+35G= (n.2361+35G=)
c.2043+35G=
c.942+35G= (n.942+35G=)
c.297+35G= (n.297+35G=)
n.3123+35G=
n.3043+35G=
c.2862+35G= (n.2862+35G=)
c.2856+35G= (n.2856+35G=)
c.1260+35G= (n.1260+35G=)
n.3069+35G=
1g.102978825C>GCA884733649COL11A1c.2709+35G>C (n.2709+35G>C)
c.2592+35G>C (n.2592+35G>C)
c.2745+35G>C (n.2745+35G>C)
c.2361+35G>C (n.2361+35G>C)
c.2043+35G>C
c.942+35G>C (n.942+35G>C)
c.297+35G>C (n.297+35G>C)
n.3123+35G>C
n.3043+35G>C
c.2862+35G>C (n.2862+35G>C)
c.2856+35G>C (n.2856+35G>C)
c.1260+35G>C (n.1260+35G>C)
n.3069+35G>C
 dbSNP gnomAD v4
1g.102978825C>TCA974320COL11A1c.2709+35G>A (n.2709+35G>A)
c.2592+35G>A (n.2592+35G>A)
c.2745+35G>A (n.2745+35G>A)
c.2361+35G>A (n.2361+35G>A)
c.2043+35G>A
c.942+35G>A (n.942+35G>A)
c.297+35G>A (n.297+35G>A)
n.3123+35G>A
n.3043+35G>A
c.2862+35G>A (n.2862+35G>A)
c.2856+35G>A (n.2856+35G>A)
c.1260+35G>A (n.1260+35G>A)
n.3069+35G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978826A=CA1143405603COL11A1c.2709+34T= (n.2709+34T=)
c.2592+34T= (n.2592+34T=)
c.2745+34T= (n.2745+34T=)
c.2361+34T= (n.2361+34T=)
c.2043+34T=
c.942+34T= (n.942+34T=)
c.297+34T= (n.297+34T=)
n.3123+34T=
n.3043+34T=
c.2862+34T= (n.2862+34T=)
c.2856+34T= (n.2856+34T=)
c.1260+34T= (n.1260+34T=)
n.3069+34T=
1g.102978826A>GCA27703176COL11A1c.2709+34T>C (n.2709+34T>C)
c.2592+34T>C (n.2592+34T>C)
c.2745+34T>C (n.2745+34T>C)
c.2361+34T>C (n.2361+34T>C)
c.2043+34T>C
c.942+34T>C (n.942+34T>C)
c.297+34T>C (n.297+34T>C)
n.3123+34T>C
n.3043+34T>C
c.2862+34T>C (n.2862+34T>C)
c.2856+34T>C (n.2856+34T>C)
c.1260+34T>C (n.1260+34T>C)
n.3069+34T>C
 dbSNP gnomAD v3 gnomAD v4
1g.102978828T>GCA974321COL11A1c.2709+32A>C (n.2709+32A>C)
c.2592+32A>C (n.2592+32A>C)
c.2745+32A>C (n.2745+32A>C)
c.2361+32A>C (n.2361+32A>C)
c.2043+32A>C
c.942+32A>C (n.942+32A>C)
c.297+32A>C (n.297+32A>C)
n.3123+32A>C
n.3043+32A>C
c.2862+32A>C (n.2862+32A>C)
c.2856+32A>C (n.2856+32A>C)
c.1260+32A>C (n.1260+32A>C)
n.3069+32A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978828T=CA1185271956COL11A1c.2709+32A= (n.2709+32A=)
c.2592+32A= (n.2592+32A=)
c.2745+32A= (n.2745+32A=)
c.2361+32A= (n.2361+32A=)
c.2043+32A=
c.942+32A= (n.942+32A=)
c.297+32A= (n.297+32A=)
n.3123+32A=
n.3043+32A=
c.2862+32A= (n.2862+32A=)
c.2856+32A= (n.2856+32A=)
c.1260+32A= (n.1260+32A=)
n.3069+32A=
1g.102978831C>GCA2646804927COL11A1c.2709+29G>C (n.2709+29G>C)
c.2592+29G>C (n.2592+29G>C)
c.2745+29G>C (n.2745+29G>C)
c.2361+29G>C (n.2361+29G>C)
c.2043+29G>C
c.942+29G>C (n.942+29G>C)
c.297+29G>C (n.297+29G>C)
n.3123+29G>C
n.3043+29G>C
c.2862+29G>C (n.2862+29G>C)
c.2856+29G>C (n.2856+29G>C)
c.1260+29G>C (n.1260+29G>C)
n.3069+29G>C
 gnomAD v4
1g.102978833T>CCA27703180COL11A1c.2709+27A>G (n.2709+27A>G)
c.2592+27A>G (n.2592+27A>G)
c.2745+27A>G (n.2745+27A>G)
c.2361+27A>G (n.2361+27A>G)
c.2043+27A>G
c.942+27A>G (n.942+27A>G)
c.297+27A>G (n.297+27A>G)
n.3123+27A>G
n.3043+27A>G
c.2862+27A>G (n.2862+27A>G)
c.2856+27A>G (n.2856+27A>G)
c.1260+27A>G (n.1260+27A>G)
n.3069+27A>G
 dbSNP gnomAD v4
1g.102978833T=CA1143683344COL11A1c.2709+27A= (n.2709+27A=)
c.2592+27A= (n.2592+27A=)
c.2745+27A= (n.2745+27A=)
c.2361+27A= (n.2361+27A=)
c.2043+27A=
c.942+27A= (n.942+27A=)
c.297+27A= (n.297+27A=)
n.3123+27A=
n.3043+27A=
c.2862+27A= (n.2862+27A=)
c.2856+27A= (n.2856+27A=)
c.1260+27A= (n.1260+27A=)
n.3069+27A=
1g.102978834C=CA1143942258COL11A1c.2709+26G= (n.2709+26G=)
c.2592+26G= (n.2592+26G=)
c.2745+26G= (n.2745+26G=)
c.2361+26G= (n.2361+26G=)
c.2043+26G=
c.942+26G= (n.942+26G=)
c.297+26G= (n.297+26G=)
n.3123+26G=
n.3043+26G=
c.2862+26G= (n.2862+26G=)
c.2856+26G= (n.2856+26G=)
c.1260+26G= (n.1260+26G=)
n.3069+26G=
1g.102978834C>TCA974322COL11A1c.2709+26G>A (n.2709+26G>A)
c.2592+26G>A (n.2592+26G>A)
c.2745+26G>A (n.2745+26G>A)
c.2361+26G>A (n.2361+26G>A)
c.2043+26G>A
c.942+26G>A (n.942+26G>A)
c.297+26G>A (n.297+26G>A)
n.3123+26G>A
n.3043+26G>A
c.2862+26G>A (n.2862+26G>A)
c.2856+26G>A (n.2856+26G>A)
c.1260+26G>A (n.1260+26G>A)
n.3069+26G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978835C=CA1185271957COL11A1c.2709+25G= (n.2709+25G=)
c.2592+25G= (n.2592+25G=)
c.2745+25G= (n.2745+25G=)
c.2361+25G= (n.2361+25G=)
c.2043+25G=
c.942+25G= (n.942+25G=)
c.297+25G= (n.297+25G=)
n.3123+25G=
n.3043+25G=
c.2862+25G= (n.2862+25G=)
c.2856+25G= (n.2856+25G=)
c.1260+25G= (n.1260+25G=)
n.3069+25G=
1g.102978835C>GCA974323COL11A1c.2709+25G>C (n.2709+25G>C)
c.2592+25G>C (n.2592+25G>C)
c.2745+25G>C (n.2745+25G>C)
c.2361+25G>C (n.2361+25G>C)
c.2043+25G>C
c.942+25G>C (n.942+25G>C)
c.297+25G>C (n.297+25G>C)
n.3123+25G>C
n.3043+25G>C
c.2862+25G>C (n.2862+25G>C)
c.2856+25G>C (n.2856+25G>C)
c.1260+25G>C (n.1260+25G>C)
n.3069+25G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978835C>TCA524898507COL11A1c.2709+25G>A (n.2709+25G>A)
c.2592+25G>A (n.2592+25G>A)
c.2745+25G>A (n.2745+25G>A)
c.2361+25G>A (n.2361+25G>A)
c.2043+25G>A
c.942+25G>A (n.942+25G>A)
c.297+25G>A (n.297+25G>A)
n.3123+25G>A
n.3043+25G>A
c.2862+25G>A (n.2862+25G>A)
c.2856+25G>A (n.2856+25G>A)
c.1260+25G>A (n.1260+25G>A)
n.3069+25G>A
 dbSNP gnomAD v2 gnomAD v4
1g.102978836A=CA1185271958COL11A1c.2709+24T= (n.2709+24T=)
c.2592+24T= (n.2592+24T=)
c.2745+24T= (n.2745+24T=)
c.2361+24T= (n.2361+24T=)
c.2043+24T=
c.942+24T= (n.942+24T=)
c.297+24T= (n.297+24T=)
n.3123+24T=
n.3043+24T=
c.2862+24T= (n.2862+24T=)
c.2856+24T= (n.2856+24T=)
c.1260+24T= (n.1260+24T=)
n.3069+24T=
1g.102978836A>GCA27703187COL11A1c.2709+24T>C (n.2709+24T>C)
c.2592+24T>C (n.2592+24T>C)
c.2745+24T>C (n.2745+24T>C)
c.2361+24T>C (n.2361+24T>C)
c.2043+24T>C
c.942+24T>C (n.942+24T>C)
c.297+24T>C (n.297+24T>C)
n.3123+24T>C
n.3043+24T>C
c.2862+24T>C (n.2862+24T>C)
c.2856+24T>C (n.2856+24T>C)
c.1260+24T>C (n.1260+24T>C)
n.3069+24T>C
 dbSNP
1g.102978837A>GCA2646804928COL11A1c.2709+23T>C (n.2709+23T>C)
c.2592+23T>C (n.2592+23T>C)
c.2745+23T>C (n.2745+23T>C)
c.2361+23T>C (n.2361+23T>C)
c.2043+23T>C
c.942+23T>C (n.942+23T>C)
c.297+23T>C (n.297+23T>C)
n.3123+23T>C
n.3043+23T>C
c.2862+23T>C (n.2862+23T>C)
c.2856+23T>C (n.2856+23T>C)
c.1260+23T>C (n.1260+23T>C)
n.3069+23T>C
 gnomAD v4
1g.102978838A=CA1185271959COL11A1c.2709+22T= (n.2709+22T=)
c.2592+22T= (n.2592+22T=)
c.2745+22T= (n.2745+22T=)
c.2361+22T= (n.2361+22T=)
c.2043+22T=
c.942+22T= (n.942+22T=)
c.297+22T= (n.297+22T=)
n.3123+22T=
n.3043+22T=
c.2862+22T= (n.2862+22T=)
c.2856+22T= (n.2856+22T=)
c.1260+22T= (n.1260+22T=)
n.3069+22T=
1g.102978838A>GCA1185271960COL11A1c.2709+22T>C (n.2709+22T>C)
c.2592+22T>C (n.2592+22T>C)
c.2745+22T>C (n.2745+22T>C)
c.2361+22T>C (n.2361+22T>C)
c.2043+22T>C
c.942+22T>C (n.942+22T>C)
c.297+22T>C (n.297+22T>C)
n.3123+22T>C
n.3043+22T>C
c.2862+22T>C (n.2862+22T>C)
c.2856+22T>C (n.2856+22T>C)
c.1260+22T>C (n.1260+22T>C)
n.3069+22T>C
 dbSNP gnomAD v4
1g.102978839C=CA1185271961COL11A1c.2709+21G= (n.2709+21G=)
c.2592+21G= (n.2592+21G=)
c.2745+21G= (n.2745+21G=)
c.2361+21G= (n.2361+21G=)
c.2043+21G=
c.942+21G= (n.942+21G=)
c.297+21G= (n.297+21G=)
n.3123+21G=
n.3043+21G=
c.2862+21G= (n.2862+21G=)
c.2856+21G= (n.2856+21G=)
c.1260+21G= (n.1260+21G=)
n.3069+21G=
1g.102978839C>GCA2646804929COL11A1c.2709+21G>C (n.2709+21G>C)
c.2592+21G>C (n.2592+21G>C)
c.2745+21G>C (n.2745+21G>C)
c.2361+21G>C (n.2361+21G>C)
c.2043+21G>C
c.942+21G>C (n.942+21G>C)
c.297+21G>C (n.297+21G>C)
n.3123+21G>C
n.3043+21G>C
c.2862+21G>C (n.2862+21G>C)
c.2856+21G>C (n.2856+21G>C)
c.1260+21G>C (n.1260+21G>C)
n.3069+21G>C
 gnomAD v4
1g.102978839C>TCA524898508COL11A1c.2709+21G>A (n.2709+21G>A)
c.2592+21G>A (n.2592+21G>A)
c.2745+21G>A (n.2745+21G>A)
c.2361+21G>A (n.2361+21G>A)
c.2043+21G>A
c.942+21G>A (n.942+21G>A)
c.297+21G>A (n.297+21G>A)
n.3123+21G>A
n.3043+21G>A
c.2862+21G>A (n.2862+21G>A)
c.2856+21G>A (n.2856+21G>A)
c.1260+21G>A (n.1260+21G>A)
n.3069+21G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102978840delCA2697552575COL11A1c.2709+20del (n.2709+20del)
c.2592+20del (n.2592+20del)
c.2745+20del (n.2745+20del)
c.2361+20del (n.2361+20del)
c.2043+20del
c.942+20del (n.942+20del)
c.297+20del (n.297+20del)
n.3123+20del
n.3043+20del
c.2862+20del (n.2862+20del)
c.2856+20del (n.2856+20del)
c.1260+20del (n.1260+20del)
n.3069+20del
 ClinVar
1g.102978840A>GCA2646804930COL11A1c.2709+20T>C (n.2709+20T>C)
c.2592+20T>C (n.2592+20T>C)
c.2745+20T>C (n.2745+20T>C)
c.2361+20T>C (n.2361+20T>C)
c.2043+20T>C
c.942+20T>C (n.942+20T>C)
c.297+20T>C (n.297+20T>C)
n.3123+20T>C
n.3043+20T>C
c.2862+20T>C (n.2862+20T>C)
c.2856+20T>C (n.2856+20T>C)
c.1260+20T>C (n.1260+20T>C)
n.3069+20T>C
 gnomAD v4
1g.102978841_102978842delinsGACA1185271962COL11A1c.2709+18_2709+19delinsTC (n.2709+18_2709+19delinsTC)
c.2592+18_2592+19delinsTC (n.2592+18_2592+19delinsTC)
c.2745+18_2745+19delinsTC (n.2745+18_2745+19delinsTC)
c.2361+18_2361+19delinsTC (n.2361+18_2361+19delinsTC)
c.2043+18_2043+19delinsTC
c.942+18_942+19delinsTC (n.942+18_942+19delinsTC)
c.297+18_297+19delinsTC (n.297+18_297+19delinsTC)
n.3123+18_3123+19delinsTC
n.3043+18_3043+19delinsTC
c.2862+18_2862+19delinsTC (n.2862+18_2862+19delinsTC)
c.2856+18_2856+19delinsTC (n.2856+18_2856+19delinsTC)
c.1260+18_1260+19delinsTC (n.1260+18_1260+19delinsTC)
n.3069+18_3069+19delinsTC
1g.102978846delCA1185271963COL11A1c.2709+18del (n.2709+18del)
c.2592+18del (n.2592+18del)
c.2745+18del (n.2745+18del)
c.2361+18del (n.2361+18del)
c.2043+18del
c.942+18del (n.942+18del)
c.297+18del (n.297+18del)
n.3123+18del
n.3043+18del
c.2862+18del (n.2862+18del)
c.2856+18del (n.2856+18del)
c.1260+18del (n.1260+18del)
n.3069+18del
 dbSNP
1g.102978844A>TCA2580060738COL11A1c.2709+16T>A (n.2709+16T>A)
c.2592+16T>A (n.2592+16T>A)
c.2745+16T>A (n.2745+16T>A)
c.2361+16T>A (n.2361+16T>A)
c.2043+16T>A
c.942+16T>A (n.942+16T>A)
c.297+16T>A (n.297+16T>A)
n.3123+16T>A
n.3043+16T>A
c.2862+16T>A (n.2862+16T>A)
c.2856+16T>A (n.2856+16T>A)
c.1260+16T>A (n.1260+16T>A)
n.3069+16T>A
 ClinVar
1g.102978845A=CA1185271964COL11A1c.2709+15T= (n.2709+15T=)
c.2592+15T= (n.2592+15T=)
c.2745+15T= (n.2745+15T=)
c.2361+15T= (n.2361+15T=)
c.2043+15T=
c.942+15T= (n.942+15T=)
c.297+15T= (n.297+15T=)
n.3123+15T=
n.3043+15T=
c.2862+15T= (n.2862+15T=)
c.2856+15T= (n.2856+15T=)
c.1260+15T= (n.1260+15T=)
n.3069+15T=
1g.102978845A>GCA524898509COL11A1c.2709+15T>C (n.2709+15T>C)
c.2592+15T>C (n.2592+15T>C)
c.2745+15T>C (n.2745+15T>C)
c.2361+15T>C (n.2361+15T>C)
c.2043+15T>C
c.942+15T>C (n.942+15T>C)
c.297+15T>C (n.297+15T>C)
n.3123+15T>C
n.3043+15T>C
c.2862+15T>C (n.2862+15T>C)
c.2856+15T>C (n.2856+15T>C)
c.1260+15T>C (n.1260+15T>C)
n.3069+15T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.102978846A=CA1185271965COL11A1c.2709+14T= (n.2709+14T=)
c.2592+14T= (n.2592+14T=)
c.2745+14T= (n.2745+14T=)
c.2361+14T= (n.2361+14T=)
c.2043+14T=
c.942+14T= (n.942+14T=)
c.297+14T= (n.297+14T=)
n.3123+14T=
n.3043+14T=
c.2862+14T= (n.2862+14T=)
c.2856+14T= (n.2856+14T=)
c.1260+14T= (n.1260+14T=)
n.3069+14T=
1g.102978846A>CCA524898510COL11A1c.2709+14T>G (n.2709+14T>G)
c.2592+14T>G (n.2592+14T>G)
c.2745+14T>G (n.2745+14T>G)
c.2361+14T>G (n.2361+14T>G)
c.2043+14T>G
c.942+14T>G (n.942+14T>G)
c.297+14T>G (n.297+14T>G)
n.3123+14T>G
n.3043+14T>G
c.2862+14T>G (n.2862+14T>G)
c.2856+14T>G (n.2856+14T>G)
c.1260+14T>G (n.1260+14T>G)
n.3069+14T>G
 dbSNP gnomAD v2 gnomAD v4
1g.102978846A>GCA1185271966COL11A1c.2709+14T>C (n.2709+14T>C)
c.2592+14T>C (n.2592+14T>C)
c.2745+14T>C (n.2745+14T>C)
c.2361+14T>C (n.2361+14T>C)
c.2043+14T>C
c.942+14T>C (n.942+14T>C)
c.297+14T>C (n.297+14T>C)
n.3123+14T>C
n.3043+14T>C
c.2862+14T>C (n.2862+14T>C)
c.2856+14T>C (n.2856+14T>C)
c.1260+14T>C (n.1260+14T>C)
n.3069+14T>C
 dbSNP
1g.102978847G>ACA524898511COL11A1c.2709+13C>T (n.2709+13C>T)
c.2592+13C>T (n.2592+13C>T)
c.2745+13C>T (n.2745+13C>T)
c.2361+13C>T (n.2361+13C>T)
c.2043+13C>T
c.942+13C>T (n.942+13C>T)
c.297+13C>T (n.297+13C>T)
n.3123+13C>T
n.3043+13C>T
c.2862+13C>T (n.2862+13C>T)
c.2856+13C>T (n.2856+13C>T)
c.1260+13C>T (n.1260+13C>T)
n.3069+13C>T
 dbSNP gnomAD v2 gnomAD v4
1g.102978847G=CA1143791061COL11A1c.2709+13C= (n.2709+13C=)
c.2592+13C= (n.2592+13C=)
c.2745+13C= (n.2745+13C=)
c.2361+13C= (n.2361+13C=)
c.2043+13C=
c.942+13C= (n.942+13C=)
c.297+13C= (n.297+13C=)
n.3123+13C=
n.3043+13C=
c.2862+13C= (n.2862+13C=)
c.2856+13C= (n.2856+13C=)
c.1260+13C= (n.1260+13C=)
n.3069+13C=
1g.102978847G>TCA974324COL11A1c.2709+13C>A (n.2709+13C>A)
c.2592+13C>A (n.2592+13C>A)
c.2745+13C>A (n.2745+13C>A)
c.2361+13C>A (n.2361+13C>A)
c.2043+13C>A
c.942+13C>A (n.942+13C>A)
c.297+13C>A (n.297+13C>A)
n.3123+13C>A
n.3043+13C>A
c.2862+13C>A (n.2862+13C>A)
c.2856+13C>A (n.2856+13C>A)
c.1260+13C>A (n.1260+13C>A)
n.3069+13C>A
 ClinVar dbSNP ExAC
1g.102978848T>CCA974325COL11A1c.2709+12A>G (n.2709+12A>G)
c.2592+12A>G (n.2592+12A>G)
c.2745+12A>G (n.2745+12A>G)
c.2361+12A>G (n.2361+12A>G)
c.2043+12A>G
c.942+12A>G (n.942+12A>G)
c.297+12A>G (n.297+12A>G)
n.3123+12A>G
n.3043+12A>G
c.2862+12A>G (n.2862+12A>G)
c.2856+12A>G (n.2856+12A>G)
c.1260+12A>G (n.1260+12A>G)
n.3069+12A>G
 dbSNP ExAC gnomAD v2
1g.102978848T=CA1185271967COL11A1c.2709+12A= (n.2709+12A=)
c.2592+12A= (n.2592+12A=)
c.2745+12A= (n.2745+12A=)
c.2361+12A= (n.2361+12A=)
c.2043+12A=
c.942+12A= (n.942+12A=)
c.297+12A= (n.297+12A=)
n.3123+12A=
n.3043+12A=
c.2862+12A= (n.2862+12A=)
c.2856+12A= (n.2856+12A=)
c.1260+12A= (n.1260+12A=)
n.3069+12A=
1g.102978849A>GCA2696678926COL11A1c.2709+11T>C (n.2709+11T>C)
c.2592+11T>C (n.2592+11T>C)
c.2745+11T>C (n.2745+11T>C)
c.2361+11T>C (n.2361+11T>C)
c.2043+11T>C
c.942+11T>C (n.942+11T>C)
c.297+11T>C (n.297+11T>C)
n.3123+11T>C
n.3043+11T>C
c.2862+11T>C (n.2862+11T>C)
c.2856+11T>C (n.2856+11T>C)
c.1260+11T>C (n.1260+11T>C)
n.3069+11T>C
 dbSNP
1g.102978850C>TCA2646804931COL11A1c.2709+10G>A (n.2709+10G>A)
c.2592+10G>A (n.2592+10G>A)
c.2745+10G>A (n.2745+10G>A)
c.2361+10G>A (n.2361+10G>A)
c.2043+10G>A
c.942+10G>A (n.942+10G>A)
c.297+10G>A (n.297+10G>A)
n.3123+10G>A
n.3043+10G>A
c.2862+10G>A (n.2862+10G>A)
c.2856+10G>A (n.2856+10G>A)
c.1260+10G>A (n.1260+10G>A)
n.3069+10G>A
 gnomAD v4
1g.102978851A>CCA2739275158COL11A1c.2709+9T>G (n.2709+9T>G)
c.2592+9T>G (n.2592+9T>G)
c.2745+9T>G (n.2745+9T>G)
c.2361+9T>G (n.2361+9T>G)
c.2043+9T>G
c.942+9T>G (n.942+9T>G)
c.297+9T>G (n.297+9T>G)
n.3123+9T>G
n.3043+9T>G
c.2862+9T>G (n.2862+9T>G)
c.2856+9T>G (n.2856+9T>G)
c.1260+9T>G (n.1260+9T>G)
n.3069+9T>G
 ClinVar
1g.102978852G>ACA2646804932COL11A1c.2709+8C>T (n.2709+8C>T)
c.2592+8C>T (n.2592+8C>T)
c.2745+8C>T (n.2745+8C>T)
c.2361+8C>T (n.2361+8C>T)
c.2043+8C>T
c.942+8C>T (n.942+8C>T)
c.297+8C>T (n.297+8C>T)
n.3123+8C>T
n.3043+8C>T
c.2862+8C>T (n.2862+8C>T)
c.2856+8C>T (n.2856+8C>T)
c.1260+8C>T (n.1260+8C>T)
n.3069+8C>T
 gnomAD v4
1g.102978852G>CCA974326COL11A1c.2709+8C>G (n.2709+8C>G)
c.2592+8C>G (n.2592+8C>G)
c.2745+8C>G (n.2745+8C>G)
c.2361+8C>G (n.2361+8C>G)
c.2043+8C>G
c.942+8C>G (n.942+8C>G)
c.297+8C>G (n.297+8C>G)
n.3123+8C>G
n.3043+8C>G
c.2862+8C>G (n.2862+8C>G)
c.2856+8C>G (n.2856+8C>G)
c.1260+8C>G (n.1260+8C>G)
n.3069+8C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978852G=CA1185271968COL11A1c.2709+8C= (n.2709+8C=)
c.2592+8C= (n.2592+8C=)
c.2745+8C= (n.2745+8C=)
c.2361+8C= (n.2361+8C=)
c.2043+8C=
c.942+8C= (n.942+8C=)
c.297+8C= (n.297+8C=)
n.3123+8C=
n.3043+8C=
c.2862+8C= (n.2862+8C=)
c.2856+8C= (n.2856+8C=)
c.1260+8C= (n.1260+8C=)
n.3069+8C=
1g.102978853G>ACA2646804933COL11A1c.2709+7C>T (n.2709+7C>T)
c.2592+7C>T (n.2592+7C>T)
c.2745+7C>T (n.2745+7C>T)
c.2361+7C>T (n.2361+7C>T)
c.2043+7C>T
c.942+7C>T (n.942+7C>T)
c.297+7C>T (n.297+7C>T)
n.3123+7C>T
n.3043+7C>T
c.2862+7C>T (n.2862+7C>T)
c.2856+7C>T (n.2856+7C>T)
c.1260+7C>T (n.1260+7C>T)
n.3069+7C>T
 gnomAD v4
1g.102978853G>CCA2740090323COL11A1c.2709+7C>G (n.2709+7C>G)
c.2592+7C>G (n.2592+7C>G)
c.2745+7C>G (n.2745+7C>G)
c.2361+7C>G (n.2361+7C>G)
c.2043+7C>G
c.942+7C>G (n.942+7C>G)
c.297+7C>G (n.297+7C>G)
n.3123+7C>G
n.3043+7C>G
c.2862+7C>G (n.2862+7C>G)
c.2856+7C>G (n.2856+7C>G)
c.1260+7C>G (n.1260+7C>G)
n.3069+7C>G
 ClinVar
1g.102978853G=CA1185271969COL11A1c.2709+7C= (n.2709+7C=)
c.2592+7C= (n.2592+7C=)
c.2745+7C= (n.2745+7C=)
c.2361+7C= (n.2361+7C=)
c.2043+7C=
c.942+7C= (n.942+7C=)
c.297+7C= (n.297+7C=)
n.3123+7C=
n.3043+7C=
c.2862+7C= (n.2862+7C=)
c.2856+7C= (n.2856+7C=)
c.1260+7C= (n.1260+7C=)
n.3069+7C=
1g.102978853G>TCA524898512COL11A1c.2709+7C>A (n.2709+7C>A)
c.2592+7C>A (n.2592+7C>A)
c.2745+7C>A (n.2745+7C>A)
c.2361+7C>A (n.2361+7C>A)
c.2043+7C>A
c.942+7C>A (n.942+7C>A)
c.297+7C>A (n.297+7C>A)
n.3123+7C>A
n.3043+7C>A
c.2862+7C>A (n.2862+7C>A)
c.2856+7C>A (n.2856+7C>A)
c.1260+7C>A (n.1260+7C>A)
n.3069+7C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.102978855G>CCA2574449714COL11A1c.2709+5C>G (n.2709+5C>G)
c.2592+5C>G (n.2592+5C>G)
c.2745+5C>G (n.2745+5C>G)
c.2361+5C>G (n.2361+5C>G)
c.2043+5C>G
c.942+5C>G (n.942+5C>G)
c.297+5C>G (n.297+5C>G)
n.3123+5C>G
n.3043+5C>G
c.2862+5C>G (n.2862+5C>G)
c.2856+5C>G (n.2856+5C>G)
c.1260+5C>G (n.1260+5C>G)
n.3069+5C>G
1g.102978857T>ACA524898513COL11A1c.2709+3A>T (n.2709+3A>T)
c.2592+3A>T (n.2592+3A>T)
c.2745+3A>T (n.2745+3A>T)
c.2361+3A>T (n.2361+3A>T)
c.2043+3A>T
c.942+3A>T (n.942+3A>T)
c.297+3A>T (n.297+3A>T)
n.3123+3A>T
n.3043+3A>T
c.2862+3A>T (n.2862+3A>T)
c.2856+3A>T (n.2856+3A>T)
c.1260+3A>T (n.1260+3A>T)
n.3069+3A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102978857T>CCA27703196COL11A1c.2709+3A>G (n.2709+3A>G)
c.2592+3A>G (n.2592+3A>G)
c.2745+3A>G (n.2745+3A>G)
c.2361+3A>G (n.2361+3A>G)
c.2043+3A>G
c.942+3A>G (n.942+3A>G)
c.297+3A>G (n.297+3A>G)
n.3123+3A>G
n.3043+3A>G
c.2862+3A>G (n.2862+3A>G)
c.2856+3A>G (n.2856+3A>G)
c.1260+3A>G (n.1260+3A>G)
n.3069+3A>G
 dbSNP gnomAD v4
1g.102978857T=CA1185271970COL11A1c.2709+3A= (n.2709+3A=)
c.2592+3A= (n.2592+3A=)
c.2745+3A= (n.2745+3A=)
c.2361+3A= (n.2361+3A=)
c.2043+3A=
c.942+3A= (n.942+3A=)
c.297+3A= (n.297+3A=)
n.3123+3A=
n.3043+3A=
c.2862+3A= (n.2862+3A=)
c.2856+3A= (n.2856+3A=)
c.1260+3A= (n.1260+3A=)
n.3069+3A=
1g.102978858A>CCA341163153COL11A1c.2709+2T>G (n.2709+2T>G)
c.2592+2T>G (n.2592+2T>G)
c.2745+2T>G (n.2745+2T>G)
c.2361+2T>G (n.2361+2T>G)
c.2043+2T>G
c.942+2T>G (n.942+2T>G)
c.297+2T>G (n.297+2T>G)
n.3123+2T>G
n.3043+2T>G
c.2862+2T>G (n.2862+2T>G)
c.2856+2T>G (n.2856+2T>G)
c.1260+2T>G (n.1260+2T>G)
n.3069+2T>G
1g.102978858A>GCA341163154COL11A1c.2709+2T>C (n.2709+2T>C)
c.2592+2T>C (n.2592+2T>C)
c.2745+2T>C (n.2745+2T>C)
c.2361+2T>C (n.2361+2T>C)
c.2043+2T>C
c.942+2T>C (n.942+2T>C)
c.297+2T>C (n.297+2T>C)
n.3123+2T>C
n.3043+2T>C
c.2862+2T>C (n.2862+2T>C)
c.2856+2T>C (n.2856+2T>C)
c.1260+2T>C (n.1260+2T>C)
n.3069+2T>C
 gnomAD v4
1g.102978858A>TCA341163156COL11A1c.2709+2T>A (n.2709+2T>A)
c.2592+2T>A (n.2592+2T>A)
c.2745+2T>A (n.2745+2T>A)
c.2361+2T>A (n.2361+2T>A)
c.2043+2T>A
c.942+2T>A (n.942+2T>A)
c.297+2T>A (n.297+2T>A)
n.3123+2T>A
n.3043+2T>A
c.2862+2T>A (n.2862+2T>A)
c.2856+2T>A (n.2856+2T>A)
c.1260+2T>A (n.1260+2T>A)
n.3069+2T>A
1g.102978859C>ACA341163163COL11A1c.2709+1G>T (n.2709+1G>T)
c.2592+1G>T (n.2592+1G>T)
c.2745+1G>T (n.2745+1G>T)
c.2361+1G>T (n.2361+1G>T)
c.2043+1G>T
c.942+1G>T (n.942+1G>T)
c.297+1G>T (n.297+1G>T)
n.3123+1G>T
n.3043+1G>T
c.2862+1G>T (n.2862+1G>T)
c.2856+1G>T (n.2856+1G>T)
c.1260+1G>T (n.1260+1G>T)
n.3069+1G>T
 COSMIC COSMIC
1g.102978859C=CA1185271971COL11A1c.2709+1G= (n.2709+1G=)
c.2592+1G= (n.2592+1G=)
c.2745+1G= (n.2745+1G=)
c.2361+1G= (n.2361+1G=)
c.2043+1G=
c.942+1G= (n.942+1G=)
c.297+1G= (n.297+1G=)
n.3123+1G=
n.3043+1G=
c.2862+1G= (n.2862+1G=)
c.2856+1G= (n.2856+1G=)
c.1260+1G= (n.1260+1G=)
n.3069+1G=
1g.102978859C>GCA341163157COL11A1c.2709+1G>C (n.2709+1G>C)
c.2592+1G>C (n.2592+1G>C)
c.2745+1G>C (n.2745+1G>C)
c.2361+1G>C (n.2361+1G>C)
c.2043+1G>C
c.942+1G>C (n.942+1G>C)
c.297+1G>C (n.297+1G>C)
n.3123+1G>C
n.3043+1G>C
c.2862+1G>C (n.2862+1G>C)
c.2856+1G>C (n.2856+1G>C)
c.1260+1G>C (n.1260+1G>C)
n.3069+1G>C
1g.102978859C>TCA341163159COL11A1c.2709+1G>A (n.2709+1G>A)
c.2592+1G>A (n.2592+1G>A)
c.2745+1G>A (n.2745+1G>A)
c.2361+1G>A (n.2361+1G>A)
c.2043+1G>A
c.942+1G>A (n.942+1G>A)
c.297+1G>A (n.297+1G>A)
n.3123+1G>A
n.3043+1G>A
c.2862+1G>A (n.2862+1G>A)
c.2856+1G>A (n.2856+1G>A)
c.1260+1G>A (n.1260+1G>A)
n.3069+1G>A
 ClinVar dbSNP
1g.102978859_102978860insAGCCACATAATATAAAATGAAAATTAGTATTTCA1185271972COL11A1c.2709_2709+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2709_2709+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.2592_2592+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2592_2592+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.2745_2745+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2745_2745+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.2361_2361+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2361_2361+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.2043_2043+1insAAATACTAATTTTCATTTTATATTATGTGGCT
c.942_942+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.942_942+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.297_297+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.297_297+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
n.3123_3123+1insAAATACTAATTTTCATTTTATATTATGTGGCT
n.3043_3043+1insAAATACTAATTTTCATTTTATATTATGTGGCT
c.2862_2862+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2862_2862+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.2856_2856+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.2856_2856+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
c.1260_1260+1insAAATACTAATTTTCATTTTATATTATGTGGCT (n.1260_1260+1insAAATACTAATTTTCATTTTATATTATGTGGCT)
n.3069_3069+1insAAATACTAATTTTCATTTTATATTATGTGGCT
 dbSNP
1g.102978860C>ACA341163167COL11A1c.2709G>T (p.Lys903Asn)
c.2592G>T (p.Lys864Asn)
c.2745G>T (p.Lys915Asn)
c.2361G>T (p.Lys787Asn)
c.2043G>T
c.942G>T (p.Lys314Asn)
c.297G>T (p.Lys99Asn)
n.3123G>T
n.3043G>T
c.2862G>T (p.Lys954Asn)
c.2856G>T (p.Lys952Asn)
c.1260G>T (p.Lys420Asn)
n.3069G>T
1g.102978860C>GCA341163169COL11A1c.2709G>C (p.Lys903Asn)
c.2592G>C (p.Lys864Asn)
c.2745G>C (p.Lys915Asn)
c.2361G>C (p.Lys787Asn)
c.2043G>C
c.942G>C (p.Lys314Asn)
c.297G>C (p.Lys99Asn)
n.3123G>C
n.3043G>C
c.2862G>C (p.Lys954Asn)
c.2856G>C (p.Lys952Asn)
c.1260G>C (p.Lys420Asn)
n.3069G>C
1g.102978860C>TCA419200089COL11A1c.2709G>A (p.Lys903=)
c.2592G>A (p.Lys864=)
c.2745G>A (p.Lys915=)
c.2361G>A (p.Lys787=)
c.2043G>A
c.942G>A (p.Lys314=)
c.297G>A (p.Lys99=)
n.3123G>A
n.3043G>A
c.2862G>A (p.Lys954=)
c.2856G>A (p.Lys952=)
c.1260G>A (p.Lys420=)
n.3069G>A
1g.102978861T>ACA341163174COL11A1c.2708A>T (p.Lys903Met)
c.2591A>T (p.Lys864Met)
c.2744A>T (p.Lys915Met)
c.2360A>T (p.Lys787Met)
c.2042A>T
c.941A>T (p.Lys314Met)
c.296A>T (p.Lys99Met)
n.3122A>T
n.3042A>T
c.2861A>T (p.Lys954Met)
c.2855A>T (p.Lys952Met)
c.1259A>T (p.Lys420Met)
n.3068A>T
1g.102978861T>CCA341163177COL11A1c.2708A>G (p.Lys903Arg)
c.2591A>G (p.Lys864Arg)
c.2744A>G (p.Lys915Arg)
c.2360A>G (p.Lys787Arg)
c.2042A>G
c.941A>G (p.Lys314Arg)
c.296A>G (p.Lys99Arg)
n.3122A>G
n.3042A>G
c.2861A>G (p.Lys954Arg)
c.2855A>G (p.Lys952Arg)
c.1259A>G (p.Lys420Arg)
n.3068A>G
1g.102978861T>GCA341163178COL11A1c.2708A>C (p.Lys903Thr)
c.2591A>C (p.Lys864Thr)
c.2744A>C (p.Lys915Thr)
c.2360A>C (p.Lys787Thr)
c.2042A>C
c.941A>C (p.Lys314Thr)
c.296A>C (p.Lys99Thr)
n.3122A>C
n.3042A>C
c.2861A>C (p.Lys954Thr)
c.2855A>C (p.Lys952Thr)
c.1259A>C (p.Lys420Thr)
n.3068A>C
1g.102978862T>ACA341163185COL11A1c.2707A>T (p.Lys903Ter)
c.2590A>T (p.Lys864Ter)
c.2743A>T (p.Lys915Ter)
c.2359A>T (p.Lys787Ter)
c.2041A>T
c.940A>T (p.Lys314Ter)
c.295A>T (p.Lys99Ter)
n.3121A>T
n.3041A>T
c.2860A>T (p.Lys954Ter)
c.2854A>T (p.Lys952Ter)
c.1258A>T (p.Lys420Ter)
n.3067A>T
 ClinVar
1g.102978862T>CCA341163179COL11A1c.2707A>G (p.Lys903Glu)
c.2590A>G (p.Lys864Glu)
c.2743A>G (p.Lys915Glu)
c.2359A>G (p.Lys787Glu)
c.2041A>G
c.940A>G (p.Lys314Glu)
c.295A>G (p.Lys99Glu)
n.3121A>G
n.3041A>G
c.2860A>G (p.Lys954Glu)
c.2854A>G (p.Lys952Glu)
c.1258A>G (p.Lys420Glu)
n.3067A>G
1g.102978862T>GCA341163181COL11A1c.2707A>C (p.Lys903Gln)
c.2590A>C (p.Lys864Gln)
c.2743A>C (p.Lys915Gln)
c.2359A>C (p.Lys787Gln)
c.2041A>C
c.940A>C (p.Lys314Gln)
c.295A>C (p.Lys99Gln)
n.3121A>C
n.3041A>C
c.2860A>C (p.Lys954Gln)
c.2854A>C (p.Lys952Gln)
c.1258A>C (p.Lys420Gln)
n.3067A>C
1g.102978863T>ACA419200108COL11A1c.2706A>T (p.Pro902=)
c.2589A>T (p.Pro863=)
c.2742A>T (p.Pro914=)
c.2358A>T (p.Pro786=)
c.2040A>T
c.939A>T (p.Pro313=)
c.294A>T (p.Pro98=)
n.3120A>T
n.3040A>T
c.2859A>T (p.Pro953=)
c.2853A>T (p.Pro951=)
c.1257A>T (p.Pro419=)
n.3066A>T
1g.102978863T>CCA419200104COL11A1c.2706A>G (p.Pro902=)
c.2589A>G (p.Pro863=)
c.2742A>G (p.Pro914=)
c.2358A>G (p.Pro786=)
c.2040A>G
c.939A>G (p.Pro313=)
c.294A>G (p.Pro98=)
n.3120A>G
n.3040A>G
c.2859A>G (p.Pro953=)
c.2853A>G (p.Pro951=)
c.1257A>G (p.Pro419=)
n.3066A>G
1g.102978863T>GCA419200106COL11A1c.2706A>C (p.Pro902=)
c.2589A>C (p.Pro863=)
c.2742A>C (p.Pro914=)
c.2358A>C (p.Pro786=)
c.2040A>C
c.939A>C (p.Pro313=)
c.294A>C (p.Pro98=)
n.3120A>C
n.3040A>C
c.2859A>C (p.Pro953=)
c.2853A>C (p.Pro951=)
c.1257A>C (p.Pro419=)
n.3066A>C
 dbSNP
1g.102978863T=CA1185271973COL11A1c.2706A= (p.Pro902=)
c.2589A= (p.Pro863=)
c.2742A= (p.Pro914=)
c.2358A= (p.Pro786=)
c.2040A=
c.939A= (p.Pro313=)
c.294A= (p.Pro98=)
n.3120A=
n.3040A=
c.2859A= (p.Pro953=)
c.2853A= (p.Pro951=)
c.1257A= (p.Pro419=)
n.3066A=
1g.102978864G>ACA341163187COL11A1c.2705C>T (p.Pro902Leu)
c.2588C>T (p.Pro863Leu)
c.2741C>T (p.Pro914Leu)
c.2357C>T (p.Pro786Leu)
c.2039C>T
c.938C>T (p.Pro313Leu)
c.293C>T (p.Pro98Leu)
n.3119C>T
n.3039C>T
c.2858C>T (p.Pro953Leu)
c.2852C>T (p.Pro951Leu)
c.1256C>T (p.Pro419Leu)
n.3065C>T
 COSMIC COSMIC
1g.102978864G>CCA341163189COL11A1c.2705C>G (p.Pro902Arg)
c.2588C>G (p.Pro863Arg)
c.2741C>G (p.Pro914Arg)
c.2357C>G (p.Pro786Arg)
c.2039C>G
c.938C>G (p.Pro313Arg)
c.293C>G (p.Pro98Arg)
n.3119C>G
n.3039C>G
c.2858C>G (p.Pro953Arg)
c.2852C>G (p.Pro951Arg)
c.1256C>G (p.Pro419Arg)
n.3065C>G
1g.102978864G>TCA341163190COL11A1c.2705C>A (p.Pro902Gln)
c.2588C>A (p.Pro863Gln)
c.2741C>A (p.Pro914Gln)
c.2357C>A (p.Pro786Gln)
c.2039C>A
c.938C>A (p.Pro313Gln)
c.293C>A (p.Pro98Gln)
n.3119C>A
n.3039C>A
c.2858C>A (p.Pro953Gln)
c.2852C>A (p.Pro951Gln)
c.1256C>A (p.Pro419Gln)
n.3065C>A
1g.102978865G>ACA341163191COL11A1c.2704C>T (p.Pro902Ser)
c.2587C>T (p.Pro863Ser)
c.2740C>T (p.Pro914Ser)
c.2356C>T (p.Pro786Ser)
c.2038C>T
c.937C>T (p.Pro313Ser)
c.292C>T (p.Pro98Ser)
n.3118C>T
n.3038C>T
c.2857C>T (p.Pro953Ser)
c.2851C>T (p.Pro951Ser)
c.1255C>T (p.Pro419Ser)
n.3064C>T
 gnomAD v4
1g.102978865G>CCA341163192COL11A1c.2704C>G (p.Pro902Ala)
c.2587C>G (p.Pro863Ala)
c.2740C>G (p.Pro914Ala)
c.2356C>G (p.Pro786Ala)
c.2038C>G
c.937C>G (p.Pro313Ala)
c.292C>G (p.Pro98Ala)
n.3118C>G
n.3038C>G
c.2857C>G (p.Pro953Ala)
c.2851C>G (p.Pro951Ala)
c.1255C>G (p.Pro419Ala)
n.3064C>G
 dbSNP gnomAD v3 gnomAD v4
1g.102978865G=CA1185271974COL11A1c.2704C= (p.Pro902=)
c.2587C= (p.Pro863=)
c.2740C= (p.Pro914=)
c.2356C= (p.Pro786=)
c.2038C=
c.937C= (p.Pro313=)
c.292C= (p.Pro98=)
n.3118C=
n.3038C=
c.2857C= (p.Pro953=)
c.2851C= (p.Pro951=)
c.1255C= (p.Pro419=)
n.3064C=
1g.102978865G>TCA341163193COL11A1c.2704C>A (p.Pro902Thr)
c.2587C>A (p.Pro863Thr)
c.2740C>A (p.Pro914Thr)
c.2356C>A (p.Pro786Thr)
c.2038C>A
c.937C>A (p.Pro313Thr)
c.292C>A (p.Pro98Thr)
n.3118C>A
n.3038C>A
c.2857C>A (p.Pro953Thr)
c.2851C>A (p.Pro951Thr)
c.1255C>A (p.Pro419Thr)
n.3064C>A
1g.102978866C>ACA27703198COL11A1c.2703G>T (p.Gly901=)
c.2586G>T (p.Gly862=)
c.2739G>T (p.Gly913=)
c.2355G>T (p.Gly785=)
c.2037G>T
c.936G>T (p.Gly312=)
c.291G>T (p.Gly97=)
n.3117G>T
n.3037G>T
c.2856G>T (p.Gly952=)
c.2850G>T (p.Gly950=)
c.1254G>T (p.Gly418=)
n.3063G>T
 dbSNP
1g.102978866C=CA1185271975COL11A1c.2703G= (p.Gly901=)
c.2586G= (p.Gly862=)
c.2739G= (p.Gly913=)
c.2355G= (p.Gly785=)
c.2037G=
c.936G= (p.Gly312=)
c.291G= (p.Gly97=)
n.3117G=
n.3037G=
c.2856G= (p.Gly952=)
c.2850G= (p.Gly950=)
c.1254G= (p.Gly418=)
n.3063G=
1g.102978866C>GCA419200122COL11A1c.2703G>C (p.Gly901=)
c.2586G>C (p.Gly862=)
c.2739G>C (p.Gly913=)
c.2355G>C (p.Gly785=)
c.2037G>C
c.936G>C (p.Gly312=)
c.291G>C (p.Gly97=)
n.3117G>C
n.3037G>C
c.2856G>C (p.Gly952=)
c.2850G>C (p.Gly950=)
c.1254G>C (p.Gly418=)
n.3063G>C
1g.102978866C>TCA419200120COL11A1c.2703G>A (p.Gly901=)
c.2586G>A (p.Gly862=)
c.2739G>A (p.Gly913=)
c.2355G>A (p.Gly785=)
c.2037G>A
c.936G>A (p.Gly312=)
c.291G>A (p.Gly97=)
n.3117G>A
n.3037G>A
c.2856G>A (p.Gly952=)
c.2850G>A (p.Gly950=)
c.1254G>A (p.Gly418=)
n.3063G>A
 dbSNP gnomAD v4
1g.102978867C>ACA341163195COL11A1c.2702G>T (p.Gly901Val)
c.2585G>T (p.Gly862Val)
c.2738G>T (p.Gly913Val)
c.2354G>T (p.Gly785Val)
c.2036G>T
c.935G>T (p.Gly312Val)
c.290G>T (p.Gly97Val)
n.3116G>T
n.3036G>T
c.2855G>T (p.Gly952Val)
c.2849G>T (p.Gly950Val)
c.1253G>T (p.Gly418Val)
n.3062G>T
1g.102978867C>GCA341163196COL11A1c.2702G>C (p.Gly901Ala)
c.2585G>C (p.Gly862Ala)
c.2738G>C (p.Gly913Ala)
c.2354G>C (p.Gly785Ala)
c.2036G>C
c.935G>C (p.Gly312Ala)
c.290G>C (p.Gly97Ala)
n.3116G>C
n.3036G>C
c.2855G>C (p.Gly952Ala)
c.2849G>C (p.Gly950Ala)
c.1253G>C (p.Gly418Ala)
n.3062G>C
1g.102978867C>TCA341163198COL11A1c.2702G>A (p.Gly901Glu)
c.2585G>A (p.Gly862Glu)
c.2738G>A (p.Gly913Glu)
c.2354G>A (p.Gly785Glu)
c.2036G>A
c.935G>A (p.Gly312Glu)
c.290G>A (p.Gly97Glu)
n.3116G>A
n.3036G>A
c.2855G>A (p.Gly952Glu)
c.2849G>A (p.Gly950Glu)
c.1253G>A (p.Gly418Glu)
n.3062G>A
 ClinVar COSMIC COSMIC
1g.102978868C>ACA341163200COL11A1c.2701G>T (p.Gly901Trp)
c.2584G>T (p.Gly862Trp)
c.2737G>T (p.Gly913Trp)
c.2353G>T (p.Gly785Trp)
c.2035G>T
c.934G>T (p.Gly312Trp)
c.289G>T (p.Gly97Trp)
n.3115G>T
n.3035G>T
c.2854G>T (p.Gly952Trp)
c.2848G>T (p.Gly950Trp)
c.1252G>T (p.Gly418Trp)
n.3061G>T
1g.102978868C>GCA341163202COL11A1c.2701G>C (p.Gly901Arg)
c.2584G>C (p.Gly862Arg)
c.2737G>C (p.Gly913Arg)
c.2353G>C (p.Gly785Arg)
c.2035G>C
c.934G>C (p.Gly312Arg)
c.289G>C (p.Gly97Arg)
n.3115G>C
n.3035G>C
c.2854G>C (p.Gly952Arg)
c.2848G>C (p.Gly950Arg)
c.1252G>C (p.Gly418Arg)
n.3061G>C
 ClinVar
1g.102978868C>TCA341163204COL11A1c.2701G>A (p.Gly901Arg)
c.2584G>A (p.Gly862Arg)
c.2737G>A (p.Gly913Arg)
c.2353G>A (p.Gly785Arg)
c.2035G>A
c.934G>A (p.Gly312Arg)
c.289G>A (p.Gly97Arg)
n.3115G>A
n.3035G>A
c.2854G>A (p.Gly952Arg)
c.2848G>A (p.Gly950Arg)
c.1252G>A (p.Gly418Arg)
n.3061G>A
1g.102978869A=CA1185271976COL11A1c.2700T= (p.Pro900=)
c.2583T= (p.Pro861=)
c.2736T= (p.Pro912=)
c.2352T= (p.Pro784=)
c.2034T=
c.933T= (p.Pro311=)
c.288T= (p.Pro96=)
n.3114T=
n.3034T=
c.2853T= (p.Pro951=)
c.2847T= (p.Pro949=)
c.1251T= (p.Pro417=)
n.3060T=
1g.102978869A>CCA419200139COL11A1c.2700T>G (p.Pro900=)
c.2583T>G (p.Pro861=)
c.2736T>G (p.Pro912=)
c.2352T>G (p.Pro784=)
c.2034T>G
c.933T>G (p.Pro311=)
c.288T>G (p.Pro96=)
n.3114T>G
n.3034T>G
c.2853T>G (p.Pro951=)
c.2847T>G (p.Pro949=)
c.1251T>G (p.Pro417=)
n.3060T>G
1g.102978869A>GCA974327COL11A1c.2700T>C (p.Pro900=)
c.2583T>C (p.Pro861=)
c.2736T>C (p.Pro912=)
c.2352T>C (p.Pro784=)
c.2034T>C
c.933T>C (p.Pro311=)
c.288T>C (p.Pro96=)
n.3114T>C
n.3034T>C
c.2853T>C (p.Pro951=)
c.2847T>C (p.Pro949=)
c.1251T>C (p.Pro417=)
n.3060T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978869A>TCA419200141COL11A1c.2700T>A (p.Pro900=)
c.2583T>A (p.Pro861=)
c.2736T>A (p.Pro912=)
c.2352T>A (p.Pro784=)
c.2034T>A
c.933T>A (p.Pro311=)
c.288T>A (p.Pro96=)
n.3114T>A
n.3034T>A
c.2853T>A (p.Pro951=)
c.2847T>A (p.Pro949=)
c.1251T>A (p.Pro417=)
n.3060T>A
1g.102978870G>ACA341163207COL11A1c.2699C>T (p.Pro900Leu)
c.2582C>T (p.Pro861Leu)
c.2735C>T (p.Pro912Leu)
c.2351C>T (p.Pro784Leu)
c.2033C>T
c.932C>T (p.Pro311Leu)
c.287C>T (p.Pro96Leu)
n.3113C>T
n.3033C>T
c.2852C>T (p.Pro951Leu)
c.2846C>T (p.Pro949Leu)
c.1250C>T (p.Pro417Leu)
n.3059C>T
 dbSNP gnomAD v3 gnomAD v4
1g.102978870G>CCA341163209COL11A1c.2699C>G (p.Pro900Arg)
c.2582C>G (p.Pro861Arg)
c.2735C>G (p.Pro912Arg)
c.2351C>G (p.Pro784Arg)
c.2033C>G
c.932C>G (p.Pro311Arg)
c.287C>G (p.Pro96Arg)
n.3113C>G
n.3033C>G
c.2852C>G (p.Pro951Arg)
c.2846C>G (p.Pro949Arg)
c.1250C>G (p.Pro417Arg)
n.3059C>G
1g.102978870G=CA1185271977COL11A1c.2699C= (p.Pro900=)
c.2582C= (p.Pro861=)
c.2735C= (p.Pro912=)
c.2351C= (p.Pro784=)
c.2033C=
c.932C= (p.Pro311=)
c.287C= (p.Pro96=)
n.3113C=
n.3033C=
c.2852C= (p.Pro951=)
c.2846C= (p.Pro949=)
c.1250C= (p.Pro417=)
n.3059C=
1g.102978870G>TCA341163208COL11A1c.2699C>A (p.Pro900His)
c.2582C>A (p.Pro861His)
c.2735C>A (p.Pro912His)
c.2351C>A (p.Pro784His)
c.2033C>A
c.932C>A (p.Pro311His)
c.287C>A (p.Pro96His)
n.3113C>A
n.3033C>A
c.2852C>A (p.Pro951His)
c.2846C>A (p.Pro949His)
c.1250C>A (p.Pro417His)
n.3059C>A
 COSMIC COSMIC
1g.102978871G>ACA341163210COL11A1c.2698C>T (p.Pro900Ser)
c.2581C>T (p.Pro861Ser)
c.2734C>T (p.Pro912Ser)
c.2350C>T (p.Pro784Ser)
c.2032C>T
c.931C>T (p.Pro311Ser)
c.286C>T (p.Pro96Ser)
n.3112C>T
n.3032C>T
c.2851C>T (p.Pro951Ser)
c.2845C>T (p.Pro949Ser)
c.1249C>T (p.Pro417Ser)
n.3058C>T
 gnomAD v4
1g.102978871G>CCA341163211COL11A1c.2698C>G (p.Pro900Ala)
c.2581C>G (p.Pro861Ala)
c.2734C>G (p.Pro912Ala)
c.2350C>G (p.Pro784Ala)
c.2032C>G
c.931C>G (p.Pro311Ala)
c.286C>G (p.Pro96Ala)
n.3112C>G
n.3032C>G
c.2851C>G (p.Pro951Ala)
c.2845C>G (p.Pro949Ala)
c.1249C>G (p.Pro417Ala)
n.3058C>G
1g.102978871G>TCA341163213COL11A1c.2698C>A (p.Pro900Thr)
c.2581C>A (p.Pro861Thr)
c.2734C>A (p.Pro912Thr)
c.2350C>A (p.Pro784Thr)
c.2032C>A
c.931C>A (p.Pro311Thr)
c.286C>A (p.Pro96Thr)
n.3112C>A
n.3032C>A
c.2851C>A (p.Pro951Thr)
c.2845C>A (p.Pro949Thr)
c.1249C>A (p.Pro417Thr)
n.3058C>A
 COSMIC COSMIC
1g.102978872T>ACA341163215COL11A1c.2697A>T (p.Lys899Asn)
c.2580A>T (p.Lys860Asn)
c.2733A>T (p.Lys911Asn)
c.2349A>T (p.Lys783Asn)
c.2031A>T
c.930A>T (p.Lys310Asn)
c.285A>T (p.Lys95Asn)
n.3111A>T
n.3031A>T
c.2850A>T (p.Lys950Asn)
c.2844A>T (p.Lys948Asn)
c.1248A>T (p.Lys416Asn)
n.3057A>T
1g.102978872T>CCA419200157COL11A1c.2697A>G (p.Lys899=)
c.2580A>G (p.Lys860=)
c.2733A>G (p.Lys911=)
c.2349A>G (p.Lys783=)
c.2031A>G
c.930A>G (p.Lys310=)
c.285A>G (p.Lys95=)
n.3111A>G
n.3031A>G
c.2850A>G (p.Lys950=)
c.2844A>G (p.Lys948=)
c.1248A>G (p.Lys416=)
n.3057A>G
 COSMIC COSMIC
1g.102978872T>GCA341163217COL11A1c.2697A>C (p.Lys899Asn)
c.2580A>C (p.Lys860Asn)
c.2733A>C (p.Lys911Asn)
c.2349A>C (p.Lys783Asn)
c.2031A>C
c.930A>C (p.Lys310Asn)
c.285A>C (p.Lys95Asn)
n.3111A>C
n.3031A>C
c.2850A>C (p.Lys950Asn)
c.2844A>C (p.Lys948Asn)
c.1248A>C (p.Lys416Asn)
n.3057A>C
1g.102978873T>ACA341163219COL11A1c.2696A>T (p.Lys899Ile)
c.2579A>T (p.Lys860Ile)
c.2732A>T (p.Lys911Ile)
c.2348A>T (p.Lys783Ile)
c.2030A>T
c.929A>T (p.Lys310Ile)
c.284A>T (p.Lys95Ile)
n.3110A>T
n.3030A>T
c.2849A>T (p.Lys950Ile)
c.2843A>T (p.Lys948Ile)
c.1247A>T (p.Lys416Ile)
n.3056A>T
1g.102978873T>CCA341163221COL11A1c.2696A>G (p.Lys899Arg)
c.2579A>G (p.Lys860Arg)
c.2732A>G (p.Lys911Arg)
c.2348A>G (p.Lys783Arg)
c.2030A>G
c.929A>G (p.Lys310Arg)
c.284A>G (p.Lys95Arg)
n.3110A>G
n.3030A>G
c.2849A>G (p.Lys950Arg)
c.2843A>G (p.Lys948Arg)
c.1247A>G (p.Lys416Arg)
n.3056A>G
1g.102978873T>GCA341163226COL11A1c.2696A>C (p.Lys899Thr)
c.2579A>C (p.Lys860Thr)
c.2732A>C (p.Lys911Thr)
c.2348A>C (p.Lys783Thr)
c.2030A>C
c.929A>C (p.Lys310Thr)
c.284A>C (p.Lys95Thr)
n.3110A>C
n.3030A>C
c.2849A>C (p.Lys950Thr)
c.2843A>C (p.Lys948Thr)
c.1247A>C (p.Lys416Thr)
n.3056A>C
1g.102978874T>ACA341163228COL11A1c.2695A>T (p.Lys899Ter)
c.2578A>T (p.Lys860Ter)
c.2731A>T (p.Lys911Ter)
c.2347A>T (p.Lys783Ter)
c.2029A>T
c.928A>T (p.Lys310Ter)
c.283A>T (p.Lys95Ter)
n.3109A>T
n.3029A>T
c.2848A>T (p.Lys950Ter)
c.2842A>T (p.Lys948Ter)
c.1246A>T (p.Lys416Ter)
n.3055A>T
1g.102978874T>CCA341163229COL11A1c.2695A>G (p.Lys899Glu)
c.2578A>G (p.Lys860Glu)
c.2731A>G (p.Lys911Glu)
c.2347A>G (p.Lys783Glu)
c.2029A>G
c.928A>G (p.Lys310Glu)
c.283A>G (p.Lys95Glu)
n.3109A>G
n.3029A>G
c.2848A>G (p.Lys950Glu)
c.2842A>G (p.Lys948Glu)
c.1246A>G (p.Lys416Glu)
n.3055A>G
1g.102978874T>GCA341163230COL11A1c.2695A>C (p.Lys899Gln)
c.2578A>C (p.Lys860Gln)
c.2731A>C (p.Lys911Gln)
c.2347A>C (p.Lys783Gln)
c.2029A>C
c.928A>C (p.Lys310Gln)
c.283A>C (p.Lys95Gln)
n.3109A>C
n.3029A>C
c.2848A>C (p.Lys950Gln)
c.2842A>C (p.Lys948Gln)
c.1246A>C (p.Lys416Gln)
n.3055A>C
1g.102978875C>ACA419200182COL11A1c.2694G>T (p.Gly898=)
c.2577G>T (p.Gly859=)
c.2730G>T (p.Gly910=)
c.2346G>T (p.Gly782=)
c.2028G>T
c.927G>T (p.Gly309=)
c.282G>T (p.Gly94=)
n.3108G>T
n.3028G>T
c.2847G>T (p.Gly949=)
c.2841G>T (p.Gly947=)
c.1245G>T (p.Gly415=)
n.3054G>T
1g.102978875C=CA1185271978COL11A1c.2694G= (p.Gly898=)
c.2577G= (p.Gly859=)
c.2730G= (p.Gly910=)
c.2346G= (p.Gly782=)
c.2028G=
c.927G= (p.Gly309=)
c.282G= (p.Gly94=)
n.3108G=
n.3028G=
c.2847G= (p.Gly949=)
c.2841G= (p.Gly947=)
c.1245G= (p.Gly415=)
n.3054G=
1g.102978875C>GCA419200185COL11A1c.2694G>C (p.Gly898=)
c.2577G>C (p.Gly859=)
c.2730G>C (p.Gly910=)
c.2346G>C (p.Gly782=)
c.2028G>C
c.927G>C (p.Gly309=)
c.282G>C (p.Gly94=)
n.3108G>C
n.3028G>C
c.2847G>C (p.Gly949=)
c.2841G>C (p.Gly947=)
c.1245G>C (p.Gly415=)
n.3054G>C
1g.102978875C>TCA419200187COL11A1c.2694G>A (p.Gly898=)
c.2577G>A (p.Gly859=)
c.2730G>A (p.Gly910=)
c.2346G>A (p.Gly782=)
c.2028G>A
c.927G>A (p.Gly309=)
c.282G>A (p.Gly94=)
n.3108G>A
n.3028G>A
c.2847G>A (p.Gly949=)
c.2841G>A (p.Gly947=)
c.1245G>A (p.Gly415=)
n.3054G>A
 dbSNP
1g.102978876C>ACA341163233COL11A1c.2693G>T (p.Gly898Val)
c.2576G>T (p.Gly859Val)
c.2729G>T (p.Gly910Val)
c.2345G>T (p.Gly782Val)
c.2027G>T
c.926G>T (p.Gly309Val)
c.281G>T (p.Gly94Val)
n.3107G>T
n.3027G>T
c.2846G>T (p.Gly949Val)
c.2840G>T (p.Gly947Val)
c.1244G>T (p.Gly415Val)
n.3053G>T
1g.102978876C=CA1185271979COL11A1c.2693G= (p.Gly898=)
c.2576G= (p.Gly859=)
c.2729G= (p.Gly910=)
c.2345G= (p.Gly782=)
c.2027G=
c.926G= (p.Gly309=)
c.281G= (p.Gly94=)
n.3107G=
n.3027G=
c.2846G= (p.Gly949=)
c.2840G= (p.Gly947=)
c.1244G= (p.Gly415=)
n.3053G=
1g.102978876C>GCA341163232COL11A1c.2693G>C (p.Gly898Ala)
c.2576G>C (p.Gly859Ala)
c.2729G>C (p.Gly910Ala)
c.2345G>C (p.Gly782Ala)
c.2027G>C
c.926G>C (p.Gly309Ala)
c.281G>C (p.Gly94Ala)
n.3107G>C
n.3027G>C
c.2846G>C (p.Gly949Ala)
c.2840G>C (p.Gly947Ala)
c.1244G>C (p.Gly415Ala)
n.3053G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.102978876C>TCA341163231COL11A1c.2693G>A (p.Gly898Glu)
c.2576G>A (p.Gly859Glu)
c.2729G>A (p.Gly910Glu)
c.2345G>A (p.Gly782Glu)
c.2027G>A
c.926G>A (p.Gly309Glu)
c.281G>A (p.Gly94Glu)
n.3107G>A
n.3027G>A
c.2846G>A (p.Gly949Glu)
c.2840G>A (p.Gly947Glu)
c.1244G>A (p.Gly415Glu)
n.3053G>A
1g.102978877C>ACA341163235COL11A1c.2692G>T (p.Gly898Trp)
c.2575G>T (p.Gly859Trp)
c.2728G>T (p.Gly910Trp)
c.2344G>T (p.Gly782Trp)
c.2026G>T
c.925G>T (p.Gly309Trp)
c.280G>T (p.Gly94Trp)
n.3106G>T
n.3026G>T
c.2845G>T (p.Gly949Trp)
c.2839G>T (p.Gly947Trp)
c.1243G>T (p.Gly415Trp)
n.3052G>T
1g.102978877C>GCA341163238COL11A1c.2692G>C (p.Gly898Arg)
c.2575G>C (p.Gly859Arg)
c.2728G>C (p.Gly910Arg)
c.2344G>C (p.Gly782Arg)
c.2026G>C
c.925G>C (p.Gly309Arg)
c.280G>C (p.Gly94Arg)
n.3106G>C
n.3026G>C
c.2845G>C (p.Gly949Arg)
c.2839G>C (p.Gly947Arg)
c.1243G>C (p.Gly415Arg)
n.3052G>C
1g.102978877C>TCA341163241COL11A1c.2692G>A (p.Gly898Arg)
c.2575G>A (p.Gly859Arg)
c.2728G>A (p.Gly910Arg)
c.2344G>A (p.Gly782Arg)
c.2026G>A
c.925G>A (p.Gly309Arg)
c.280G>A (p.Gly94Arg)
n.3106G>A
n.3026G>A
c.2845G>A (p.Gly949Arg)
c.2839G>A (p.Gly947Arg)
c.1243G>A (p.Gly415Arg)
n.3052G>A
1g.102978878A>CCA419200205COL11A1c.2691T>G (p.Thr897=)
c.2574T>G (p.Thr858=)
c.2727T>G (p.Thr909=)
c.2343T>G (p.Thr781=)
c.2025T>G
c.924T>G (p.Thr308=)
c.279T>G (p.Thr93=)
n.3105T>G
n.3025T>G
c.2844T>G (p.Thr948=)
c.2838T>G (p.Thr946=)
c.1242T>G (p.Thr414=)
n.3051T>G
 gnomAD v4
1g.102978878A>GCA419200207COL11A1c.2691T>C (p.Thr897=)
c.2574T>C (p.Thr858=)
c.2727T>C (p.Thr909=)
c.2343T>C (p.Thr781=)
c.2025T>C
c.924T>C (p.Thr308=)
c.279T>C (p.Thr93=)
n.3105T>C
n.3025T>C
c.2844T>C (p.Thr948=)
c.2838T>C (p.Thr946=)
c.1242T>C (p.Thr414=)
n.3051T>C
 COSMIC COSMIC
1g.102978878A>TCA419200210COL11A1c.2691T>A (p.Thr897=)
c.2574T>A (p.Thr858=)
c.2727T>A (p.Thr909=)
c.2343T>A (p.Thr781=)
c.2025T>A
c.924T>A (p.Thr308=)
c.279T>A (p.Thr93=)
n.3105T>A
n.3025T>A
c.2844T>A (p.Thr948=)
c.2838T>A (p.Thr946=)
c.1242T>A (p.Thr414=)
n.3051T>A
1g.102978879G>ACA341163242COL11A1c.2690C>T (p.Thr897Ile)
c.2573C>T (p.Thr858Ile)
c.2726C>T (p.Thr909Ile)
c.2342C>T (p.Thr781Ile)
c.2024C>T
c.923C>T (p.Thr308Ile)
c.278C>T (p.Thr93Ile)
n.3104C>T
n.3024C>T
c.2843C>T (p.Thr948Ile)
c.2837C>T (p.Thr946Ile)
c.1241C>T (p.Thr414Ile)
n.3050C>T
1g.102978879G>CCA341163243COL11A1c.2690C>G (p.Thr897Ser)
c.2573C>G (p.Thr858Ser)
c.2726C>G (p.Thr909Ser)
c.2342C>G (p.Thr781Ser)
c.2024C>G
c.923C>G (p.Thr308Ser)
c.278C>G (p.Thr93Ser)
n.3104C>G
n.3024C>G
c.2843C>G (p.Thr948Ser)
c.2837C>G (p.Thr946Ser)
c.1241C>G (p.Thr414Ser)
n.3050C>G
1g.102978879G>TCA341163244COL11A1c.2690C>A (p.Thr897Asn)
c.2573C>A (p.Thr858Asn)
c.2726C>A (p.Thr909Asn)
c.2342C>A (p.Thr781Asn)
c.2024C>A
c.923C>A (p.Thr308Asn)
c.278C>A (p.Thr93Asn)
n.3104C>A
n.3024C>A
c.2843C>A (p.Thr948Asn)
c.2837C>A (p.Thr946Asn)
c.1241C>A (p.Thr414Asn)
n.3050C>A
 gnomAD v4
1g.102978880T>ACA341163247COL11A1c.2689A>T (p.Thr897Ser)
c.2572A>T (p.Thr858Ser)
c.2725A>T (p.Thr909Ser)
c.2341A>T (p.Thr781Ser)
c.2023A>T
c.922A>T (p.Thr308Ser)
c.277A>T (p.Thr93Ser)
n.3103A>T
n.3023A>T
c.2842A>T (p.Thr948Ser)
c.2836A>T (p.Thr946Ser)
c.1240A>T (p.Thr414Ser)
n.3049A>T
1g.102978880T>CCA341163250COL11A1c.2689A>G (p.Thr897Ala)
c.2572A>G (p.Thr858Ala)
c.2725A>G (p.Thr909Ala)
c.2341A>G (p.Thr781Ala)
c.2023A>G
c.922A>G (p.Thr308Ala)
c.277A>G (p.Thr93Ala)
n.3103A>G
n.3023A>G
c.2842A>G (p.Thr948Ala)
c.2836A>G (p.Thr946Ala)
c.1240A>G (p.Thr414Ala)
n.3049A>G
 ClinVar dbSNP gnomAD v4
1g.102978880T>GCA341163253COL11A1c.2689A>C (p.Thr897Pro)
c.2572A>C (p.Thr858Pro)
c.2725A>C (p.Thr909Pro)
c.2341A>C (p.Thr781Pro)
c.2023A>C
c.922A>C (p.Thr308Pro)
c.277A>C (p.Thr93Pro)
n.3103A>C
n.3023A>C
c.2842A>C (p.Thr948Pro)
c.2836A>C (p.Thr946Pro)
c.1240A>C (p.Thr414Pro)
n.3049A>C
1g.102978881G>ACA974328COL11A1c.2688C>T (p.Pro896=)
c.2571C>T (p.Pro857=)
c.2724C>T (p.Pro908=)
c.2340C>T (p.Pro780=)
c.2022C>T
c.921C>T (p.Pro307=)
c.276C>T (p.Pro92=)
n.3102C>T
n.3022C>T
c.2841C>T (p.Pro947=)
c.2835C>T (p.Pro945=)
c.1239C>T (p.Pro413=)
n.3048C>T
 dbSNP ExAC gnomAD v2
1g.102978881G>CCA419200227COL11A1c.2688C>G (p.Pro896=)
c.2571C>G (p.Pro857=)
c.2724C>G (p.Pro908=)
c.2340C>G (p.Pro780=)
c.2022C>G
c.921C>G (p.Pro307=)
c.276C>G (p.Pro92=)
n.3102C>G
n.3022C>G
c.2841C>G (p.Pro947=)
c.2835C>G (p.Pro945=)
c.1239C>G (p.Pro413=)
n.3048C>G
1g.102978881G=CA1148294112COL11A1c.2688C= (p.Pro896=)
c.2571C= (p.Pro857=)
c.2724C= (p.Pro908=)
c.2340C= (p.Pro780=)
c.2022C=
c.921C= (p.Pro307=)
c.276C= (p.Pro92=)
n.3102C=
n.3022C=
c.2841C= (p.Pro947=)
c.2835C= (p.Pro945=)
c.1239C= (p.Pro413=)
n.3048C=
1g.102978881G>TCA419200224COL11A1c.2688C>A (p.Pro896=)
c.2571C>A (p.Pro857=)
c.2724C>A (p.Pro908=)
c.2340C>A (p.Pro780=)
c.2022C>A
c.921C>A (p.Pro307=)
c.276C>A (p.Pro92=)
n.3102C>A
n.3022C>A
c.2841C>A (p.Pro947=)
c.2835C>A (p.Pro945=)
c.1239C>A (p.Pro413=)
n.3048C>A
1g.102978882G>ACA341163260COL11A1c.2687C>T (p.Pro896Leu)
c.2570C>T (p.Pro857Leu)
c.2723C>T (p.Pro908Leu)
c.2339C>T (p.Pro780Leu)
c.2021C>T
c.920C>T (p.Pro307Leu)
c.275C>T (p.Pro92Leu)
n.3101C>T
n.3021C>T
c.2840C>T (p.Pro947Leu)
c.2834C>T (p.Pro945Leu)
c.1238C>T (p.Pro413Leu)
n.3047C>T
1g.102978882G>CCA341163267COL11A1c.2687C>G (p.Pro896Arg)
c.2570C>G (p.Pro857Arg)
c.2723C>G (p.Pro908Arg)
c.2339C>G (p.Pro780Arg)
c.2021C>G
c.920C>G (p.Pro307Arg)
c.275C>G (p.Pro92Arg)
n.3101C>G
n.3021C>G
c.2840C>G (p.Pro947Arg)
c.2834C>G (p.Pro945Arg)
c.1238C>G (p.Pro413Arg)
n.3047C>G
1g.102978882G>TCA341163269COL11A1c.2687C>A (p.Pro896His)
c.2570C>A (p.Pro857His)
c.2723C>A (p.Pro908His)
c.2339C>A (p.Pro780His)
c.2021C>A
c.920C>A (p.Pro307His)
c.275C>A (p.Pro92His)
n.3101C>A
n.3021C>A
c.2840C>A (p.Pro947His)
c.2834C>A (p.Pro945His)
c.1238C>A (p.Pro413His)
n.3047C>A
1g.102978883G>ACA341163277COL11A1c.2686C>T (p.Pro896Ser)
c.2569C>T (p.Pro857Ser)
c.2722C>T (p.Pro908Ser)
c.2338C>T (p.Pro780Ser)
c.2020C>T
c.919C>T (p.Pro307Ser)
c.274C>T (p.Pro92Ser)
n.3100C>T
n.3020C>T
c.2839C>T (p.Pro947Ser)
c.2833C>T (p.Pro945Ser)
c.1237C>T (p.Pro413Ser)
n.3046C>T
 COSMIC COSMIC
1g.102978883G>CCA341163276COL11A1c.2686C>G (p.Pro896Ala)
c.2569C>G (p.Pro857Ala)
c.2722C>G (p.Pro908Ala)
c.2338C>G (p.Pro780Ala)
c.2020C>G
c.919C>G (p.Pro307Ala)
c.274C>G (p.Pro92Ala)
n.3100C>G
n.3020C>G
c.2839C>G (p.Pro947Ala)
c.2833C>G (p.Pro945Ala)
c.1237C>G (p.Pro413Ala)
n.3046C>G
1g.102978883G=CA1185271980COL11A1c.2686C= (p.Pro896=)
c.2569C= (p.Pro857=)
c.2722C= (p.Pro908=)
c.2338C= (p.Pro780=)
c.2020C=
c.919C= (p.Pro307=)
c.274C= (p.Pro92=)
n.3100C=
n.3020C=
c.2839C= (p.Pro947=)
c.2833C= (p.Pro945=)
c.1237C= (p.Pro413=)
n.3046C=
1g.102978883G>TCA341163273COL11A1c.2686C>A (p.Pro896Thr)
c.2569C>A (p.Pro857Thr)
c.2722C>A (p.Pro908Thr)
c.2338C>A (p.Pro780Thr)
c.2020C>A
c.919C>A (p.Pro307Thr)
c.274C>A (p.Pro92Thr)
n.3100C>A
n.3020C>A
c.2839C>A (p.Pro947Thr)
c.2833C>A (p.Pro945Thr)
c.1237C>A (p.Pro413Thr)
n.3046C>A
 dbSNP gnomAD v4
1g.102978884A>CCA419200240COL11A1c.2685T>G (p.Gly895=)
c.2568T>G (p.Gly856=)
c.2721T>G (p.Gly907=)
c.2337T>G (p.Gly779=)
c.2019T>G
c.918T>G (p.Gly306=)
c.273T>G (p.Gly91=)
n.3099T>G
n.3019T>G
c.2838T>G (p.Gly946=)
c.2832T>G (p.Gly944=)
c.1236T>G (p.Gly412=)
n.3045T>G
1g.102978884A>GCA419200242COL11A1c.2685T>C (p.Gly895=)
c.2568T>C (p.Gly856=)
c.2721T>C (p.Gly907=)
c.2337T>C (p.Gly779=)
c.2019T>C
c.918T>C (p.Gly306=)
c.273T>C (p.Gly91=)
n.3099T>C
n.3019T>C
c.2838T>C (p.Gly946=)
c.2832T>C (p.Gly944=)
c.1236T>C (p.Gly412=)
n.3045T>C
1g.102978884A>TCA419200241COL11A1c.2685T>A (p.Gly895=)
c.2568T>A (p.Gly856=)
c.2721T>A (p.Gly907=)
c.2337T>A (p.Gly779=)
c.2019T>A
c.918T>A (p.Gly306=)
c.273T>A (p.Gly91=)
n.3099T>A
n.3019T>A
c.2838T>A (p.Gly946=)
c.2832T>A (p.Gly944=)
c.1236T>A (p.Gly412=)
n.3045T>A
1g.102978885C>ACA341163280COL11A1c.2684G>T (p.Gly895Val)
c.2567G>T (p.Gly856Val)
c.2720G>T (p.Gly907Val)
c.2336G>T (p.Gly779Val)
c.2018G>T
c.917G>T (p.Gly306Val)
c.272G>T (p.Gly91Val)
n.3098G>T
n.3018G>T
c.2837G>T (p.Gly946Val)
c.2831G>T (p.Gly944Val)
c.1235G>T (p.Gly412Val)
n.3044G>T
 COSMIC COSMIC
1g.102978885C>GCA341163278COL11A1c.2684G>C (p.Gly895Ala)
c.2567G>C (p.Gly856Ala)
c.2720G>C (p.Gly907Ala)
c.2336G>C (p.Gly779Ala)
c.2018G>C
c.917G>C (p.Gly306Ala)
c.272G>C (p.Gly91Ala)
n.3098G>C
n.3018G>C
c.2837G>C (p.Gly946Ala)
c.2831G>C (p.Gly944Ala)
c.1235G>C (p.Gly412Ala)
n.3044G>C
1g.102978885C>TCA341163282COL11A1c.2684G>A (p.Gly895Asp)
c.2567G>A (p.Gly856Asp)
c.2720G>A (p.Gly907Asp)
c.2336G>A (p.Gly779Asp)
c.2018G>A
c.917G>A (p.Gly306Asp)
c.272G>A (p.Gly91Asp)
n.3098G>A
n.3018G>A
c.2837G>A (p.Gly946Asp)
c.2831G>A (p.Gly944Asp)
c.1235G>A (p.Gly412Asp)
n.3044G>A
1g.102978886C>ACA341163286COL11A1c.2683G>T (p.Gly895Cys)
c.2566G>T (p.Gly856Cys)
c.2719G>T (p.Gly907Cys)
c.2335G>T (p.Gly779Cys)
c.2017G>T
c.916G>T (p.Gly306Cys)
c.271G>T (p.Gly91Cys)
n.3097G>T
n.3017G>T
c.2836G>T (p.Gly946Cys)
c.2830G>T (p.Gly944Cys)
c.1234G>T (p.Gly412Cys)
n.3043G>T
1g.102978886C>GCA341163291COL11A1c.2683G>C (p.Gly895Arg)
c.2566G>C (p.Gly856Arg)
c.2719G>C (p.Gly907Arg)
c.2335G>C (p.Gly779Arg)
c.2017G>C
c.916G>C (p.Gly306Arg)
c.271G>C (p.Gly91Arg)
n.3097G>C
n.3017G>C
c.2836G>C (p.Gly946Arg)
c.2830G>C (p.Gly944Arg)
c.1234G>C (p.Gly412Arg)
n.3043G>C
1g.102978886C>TCA341163288COL11A1c.2683G>A (p.Gly895Ser)
c.2566G>A (p.Gly856Ser)
c.2719G>A (p.Gly907Ser)
c.2335G>A (p.Gly779Ser)
c.2017G>A
c.916G>A (p.Gly306Ser)
c.271G>A (p.Gly91Ser)
n.3097G>A
n.3017G>A
c.2836G>A (p.Gly946Ser)
c.2830G>A (p.Gly944Ser)
c.1234G>A (p.Gly412Ser)
n.3043G>A
 gnomAD v4
1g.102978887T>ACA341163294COL11A1c.2682A>T (p.Arg894Ser)
c.2565A>T (p.Arg855Ser)
c.2718A>T (p.Arg906Ser)
c.2334A>T (p.Arg778Ser)
c.2016A>T
c.915A>T (p.Arg305Ser)
c.270A>T (p.Arg90Ser)
n.3096A>T
n.3016A>T
c.2835A>T (p.Arg945Ser)
c.2829A>T (p.Arg943Ser)
c.1233A>T (p.Arg411Ser)
n.3042A>T
1g.102978887T>CCA419200259COL11A1c.2682A>G (p.Arg894=)
c.2565A>G (p.Arg855=)
c.2718A>G (p.Arg906=)
c.2334A>G (p.Arg778=)
c.2016A>G
c.915A>G (p.Arg305=)
c.270A>G (p.Arg90=)
n.3096A>G
n.3016A>G
c.2835A>G (p.Arg945=)
c.2829A>G (p.Arg943=)
c.1233A>G (p.Arg411=)
n.3042A>G
1g.102978887T>GCA341163297COL11A1c.2682A>C (p.Arg894Ser)
c.2565A>C (p.Arg855Ser)
c.2718A>C (p.Arg906Ser)
c.2334A>C (p.Arg778Ser)
c.2016A>C
c.915A>C (p.Arg305Ser)
c.270A>C (p.Arg90Ser)
n.3096A>C
n.3016A>C
c.2835A>C (p.Arg945Ser)
c.2829A>C (p.Arg943Ser)
c.1233A>C (p.Arg411Ser)
n.3042A>C
1g.102978888C>ACA341163301COL11A1c.2681G>T (p.Arg894Ile)
c.2564G>T (p.Arg855Ile)
c.2717G>T (p.Arg906Ile)
c.2333G>T (p.Arg778Ile)
c.2015G>T
c.914G>T (p.Arg305Ile)
c.269G>T (p.Arg90Ile)
n.3095G>T
n.3015G>T
c.2834G>T (p.Arg945Ile)
c.2828G>T (p.Arg943Ile)
c.1232G>T (p.Arg411Ile)
n.3041G>T
1g.102978888C>GCA341163303COL11A1c.2681G>C (p.Arg894Thr)
c.2564G>C (p.Arg855Thr)
c.2717G>C (p.Arg906Thr)
c.2333G>C (p.Arg778Thr)
c.2015G>C
c.914G>C (p.Arg305Thr)
c.269G>C (p.Arg90Thr)
n.3095G>C
n.3015G>C
c.2834G>C (p.Arg945Thr)
c.2828G>C (p.Arg943Thr)
c.1232G>C (p.Arg411Thr)
n.3041G>C
1g.102978888C>TCA341163306COL11A1c.2681G>A (p.Arg894Lys)
c.2564G>A (p.Arg855Lys)
c.2717G>A (p.Arg906Lys)
c.2333G>A (p.Arg778Lys)
c.2015G>A
c.914G>A (p.Arg305Lys)
c.269G>A (p.Arg90Lys)
n.3095G>A
n.3015G>A
c.2834G>A (p.Arg945Lys)
c.2828G>A (p.Arg943Lys)
c.1232G>A (p.Arg411Lys)
n.3041G>A
1g.102978889T>ACA341163315COL11A1c.2680A>T (p.Arg894Ter)
c.2563A>T (p.Arg855Ter)
c.2716A>T (p.Arg906Ter)
c.2332A>T (p.Arg778Ter)
c.2014A>T
c.913A>T (p.Arg305Ter)
c.268A>T (p.Arg90Ter)
n.3094A>T
n.3014A>T
c.2833A>T (p.Arg945Ter)
c.2827A>T (p.Arg943Ter)
c.1231A>T (p.Arg411Ter)
n.3040A>T
1g.102978889T>CCA341163318COL11A1c.2680A>G (p.Arg894Gly)
c.2563A>G (p.Arg855Gly)
c.2716A>G (p.Arg906Gly)
c.2332A>G (p.Arg778Gly)
c.2014A>G
c.913A>G (p.Arg305Gly)
c.268A>G (p.Arg90Gly)
n.3094A>G
n.3014A>G
c.2833A>G (p.Arg945Gly)
c.2827A>G (p.Arg943Gly)
c.1231A>G (p.Arg411Gly)
n.3040A>G
1g.102978889T>GCA419200266COL11A1c.2680A>C (p.Arg894=)
c.2563A>C (p.Arg855=)
c.2716A>C (p.Arg906=)
c.2332A>C (p.Arg778=)
c.2014A>C
c.913A>C (p.Arg305=)
c.268A>C (p.Arg90=)
n.3094A>C
n.3014A>C
c.2833A>C (p.Arg945=)
c.2827A>C (p.Arg943=)
c.1231A>C (p.Arg411=)
n.3040A>C
1g.102978890T>ACA419200273COL11A1c.2679A>T (p.Ala893=)
c.2562A>T (p.Ala854=)
c.2715A>T (p.Ala905=)
c.2331A>T (p.Ala777=)
c.2013A>T
c.912A>T (p.Ala304=)
c.267A>T (p.Ala89=)
n.3093A>T
n.3013A>T
c.2832A>T (p.Ala944=)
c.2826A>T (p.Ala942=)
c.1230A>T (p.Ala410=)
n.3039A>T
1g.102978890T>CCA419200275COL11A1c.2679A>G (p.Ala893=)
c.2562A>G (p.Ala854=)
c.2715A>G (p.Ala905=)
c.2331A>G (p.Ala777=)
c.2013A>G
c.912A>G (p.Ala304=)
c.267A>G (p.Ala89=)
n.3093A>G
n.3013A>G
c.2832A>G (p.Ala944=)
c.2826A>G (p.Ala942=)
c.1230A>G (p.Ala410=)
n.3039A>G
1g.102978890T>GCA419200280COL11A1c.2679A>C (p.Ala893=)
c.2562A>C (p.Ala854=)
c.2715A>C (p.Ala905=)
c.2331A>C (p.Ala777=)
c.2013A>C
c.912A>C (p.Ala304=)
c.267A>C (p.Ala89=)
n.3093A>C
n.3013A>C
c.2832A>C (p.Ala944=)
c.2826A>C (p.Ala942=)
c.1230A>C (p.Ala410=)
n.3039A>C
1g.102978891G>ACA341163322COL11A1c.2678C>T (p.Ala893Val)
c.2561C>T (p.Ala854Val)
c.2714C>T (p.Ala905Val)
c.2330C>T (p.Ala777Val)
c.2012C>T
c.911C>T (p.Ala304Val)
c.266C>T (p.Ala89Val)
n.3092C>T
n.3012C>T
c.2831C>T (p.Ala944Val)
c.2825C>T (p.Ala942Val)
c.1229C>T (p.Ala410Val)
n.3038C>T
1g.102978891G>CCA341163326COL11A1c.2678C>G (p.Ala893Gly)
c.2561C>G (p.Ala854Gly)
c.2714C>G (p.Ala905Gly)
c.2330C>G (p.Ala777Gly)
c.2012C>G
c.911C>G (p.Ala304Gly)
c.266C>G (p.Ala89Gly)
n.3092C>G
n.3012C>G
c.2831C>G (p.Ala944Gly)
c.2825C>G (p.Ala942Gly)
c.1229C>G (p.Ala410Gly)
n.3038C>G
1g.102978891G=CA1185271981COL11A1c.2678C= (p.Ala893=)
c.2561C= (p.Ala854=)
c.2714C= (p.Ala905=)
c.2330C= (p.Ala777=)
c.2012C=
c.911C= (p.Ala304=)
c.266C= (p.Ala89=)
n.3092C=
n.3012C=
c.2831C= (p.Ala944=)
c.2825C= (p.Ala942=)
c.1229C= (p.Ala410=)
n.3038C=
1g.102978891G>TCA27703202COL11A1c.2678C>A (p.Ala893Glu)
c.2561C>A (p.Ala854Glu)
c.2714C>A (p.Ala905Glu)
c.2330C>A (p.Ala777Glu)
c.2012C>A
c.911C>A (p.Ala304Glu)
c.266C>A (p.Ala89Glu)
n.3092C>A
n.3012C>A
c.2831C>A (p.Ala944Glu)
c.2825C>A (p.Ala942Glu)
c.1229C>A (p.Ala410Glu)
n.3038C>A
 dbSNP
1g.102978892C>ACA974329COL11A1c.2677G>T (p.Ala893Ser)
c.2560G>T (p.Ala854Ser)
c.2713G>T (p.Ala905Ser)
c.2329G>T (p.Ala777Ser)
c.2011G>T
c.910G>T (p.Ala304Ser)
c.265G>T (p.Ala89Ser)
n.3091G>T
n.3011G>T
c.2830G>T (p.Ala944Ser)
c.2824G>T (p.Ala942Ser)
c.1228G>T (p.Ala410Ser)
n.3037G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.102978892C=CA1185271982COL11A1c.2677G= (p.Ala893=)
c.2560G= (p.Ala854=)
c.2713G= (p.Ala905=)
c.2329G= (p.Ala777=)
c.2011G=
c.910G= (p.Ala304=)
c.265G= (p.Ala89=)
n.3091G=
n.3011G=
c.2830G= (p.Ala944=)
c.2824G= (p.Ala942=)
c.1228G= (p.Ala410=)
n.3037G=
1g.102978892C>GCA341163331COL11A1c.2677G>C (p.Ala893Pro)
c.2560G>C (p.Ala854Pro)
c.2713G>C (p.Ala905Pro)
c.2329G>C (p.Ala777Pro)
c.2011G>C
c.910G>C (p.Ala304Pro)
c.265G>C (p.Ala89Pro)
n.3091G>C
n.3011G>C
c.2830G>C (p.Ala944Pro)
c.2824G>C (p.Ala942Pro)
c.1228G>C (p.Ala410Pro)
n.3037G>C
1g.102978892C>TCA341163332COL11A1c.2677G>A (p.Ala893Thr)
c.2560G>A (p.Ala854Thr)
c.2713G>A (p.Ala905Thr)
c.2329G>A (p.Ala777Thr)
c.2011G>A
c.910G>A (p.Ala304Thr)
c.265G>A (p.Ala89Thr)
n.3091G>A
n.3011G>A
c.2830G>A (p.Ala944Thr)
c.2824G>A (p.Ala942Thr)
c.1228G>A (p.Ala410Thr)
n.3037G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.102978893A>CCA419200293COL11A1c.2676T>G (p.Gly892=)
c.2559T>G (p.Gly853=)
c.2712T>G (p.Gly904=)
c.2328T>G (p.Gly776=)
c.2010T>G
c.909T>G (p.Gly303=)
c.264T>G (p.Gly88=)
n.3090T>G
n.3010T>G
c.2829T>G (p.Gly943=)
c.2823T>G (p.Gly941=)
c.1227T>G (p.Gly409=)
n.3036T>G
 ClinVar
1g.102978893A>GCA419200296COL11A1c.2676T>C (p.Gly892=)
c.2559T>C (p.Gly853=)
c.2712T>C (p.Gly904=)
c.2328T>C (p.Gly776=)
c.2010T>C
c.909T>C (p.Gly303=)
c.264T>C (p.Gly88=)
n.3090T>C
n.3010T>C
c.2829T>C (p.Gly943=)
c.2823T>C (p.Gly941=)
c.1227T>C (p.Gly409=)
n.3036T>C
1g.102978893A>TCA419200297COL11A1c.2676T>A (p.Gly892=)
c.2559T>A (p.Gly853=)
c.2712T>A (p.Gly904=)
c.2328T>A (p.Gly776=)
c.2010T>A
c.909T>A (p.Gly303=)
c.264T>A (p.Gly88=)
n.3090T>A
n.3010T>A
c.2829T>A (p.Gly943=)
c.2823T>A (p.Gly941=)
c.1227T>A (p.Gly409=)
n.3036T>A
1g.102978893_102978894insTAAAAGTTTATGTATACA524898514COL11A1c.2676_2677insATACATAAACTTTTAT (p.Ala893IlefsTer30)
c.2559_2560insATACATAAACTTTTAT (p.Ala854IlefsTer30)
c.2712_2713insATACATAAACTTTTAT (p.Ala905IlefsTer30)
c.2328_2329insATACATAAACTTTTAT (p.Ala777IlefsTer30)
c.2010_2011insATACATAAACTTTTAT
c.909_910insATACATAAACTTTTAT (p.Ala304IlefsTer30)
c.264_265insATACATAAACTTTTAT (p.Ala89IlefsTer30)
n.3090_3091insATACATAAACTTTTAT
n.3010_3011insATACATAAACTTTTAT
c.2829_2830insATACATAAACTTTTAT (p.Ala944IlefsTer30)
c.2823_2824insATACATAAACTTTTAT (p.Ala942IlefsTer30)
c.1227_1228insATACATAAACTTTTAT (p.Ala410IlefsTer30)
n.3036_3037insATACATAAACTTTTAT
 gnomAD v2
1g.102978894C>ACA341163333COL11A1c.2675G>T (p.Gly892Val)
c.2558G>T (p.Gly853Val)
c.2711G>T (p.Gly904Val)
c.2327G>T (p.Gly776Val)
c.2009G>T
c.908G>T (p.Gly303Val)
c.263G>T (p.Gly88Val)
n.3089G>T
n.3009G>T
c.2828G>T (p.Gly943Val)
c.2822G>T (p.Gly941Val)
c.1226G>T (p.Gly409Val)
n.3035G>T
1g.102978894C=CA1185271983COL11A1c.2675G= (p.Gly892=)
c.2558G= (p.Gly853=)
c.2711G= (p.Gly904=)
c.2327G= (p.Gly776=)
c.2009G=
c.908G= (p.Gly303=)
c.263G= (p.Gly88=)
n.3089G=
n.3009G=
c.2828G= (p.Gly943=)
c.2822G= (p.Gly941=)
c.1226G= (p.Gly409=)
n.3035G=
1g.102978894C>GCA341163338COL11A1c.2675G>C (p.Gly892Ala)
c.2558G>C (p.Gly853Ala)
c.2711G>C (p.Gly904Ala)
c.2327G>C (p.Gly776Ala)
c.2009G>C
c.908G>C (p.Gly303Ala)
c.263G>C (p.Gly88Ala)
n.3089G>C
n.3009G>C
c.2828G>C (p.Gly943Ala)
c.2822G>C (p.Gly941Ala)
c.1226G>C (p.Gly409Ala)
n.3035G>C
1g.102978894C>TCA341163335COL11A1c.2675G>A (p.Gly892Asp)
c.2558G>A (p.Gly853Asp)
c.2711G>A (p.Gly904Asp)
c.2327G>A (p.Gly776Asp)
c.2009G>A
c.908G>A (p.Gly303Asp)
c.263G>A (p.Gly88Asp)
n.3089G>A
n.3009G>A
c.2828G>A (p.Gly943Asp)
c.2822G>A (p.Gly941Asp)
c.1226G>A (p.Gly409Asp)
n.3035G>A
 gnomAD v4
1g.102978894_102978895insATATATATATGCATGCCATGTATAACA524898515COL11A1c.2674_2675insTTATACATGGCATGCATATATATAT (p.Gly892ValfsTer34)
c.2557_2558insTTATACATGGCATGCATATATATAT (p.Gly853ValfsTer34)
c.2710_2711insTTATACATGGCATGCATATATATAT (p.Gly904ValfsTer34)
c.2326_2327insTTATACATGGCATGCATATATATAT (p.Gly776ValfsTer34)
c.2008_2009insTTATACATGGCATGCATATATATAT
c.907_908insTTATACATGGCATGCATATATATAT (p.Gly303ValfsTer34)
c.262_263insTTATACATGGCATGCATATATATAT (p.Gly88ValfsTer34)
n.3088_3089insTTATACATGGCATGCATATATATAT
n.3008_3009insTTATACATGGCATGCATATATATAT
c.2827_2828insTTATACATGGCATGCATATATATAT (p.Gly943ValfsTer34)
c.2821_2822insTTATACATGGCATGCATATATATAT (p.Gly941ValfsTer34)
c.1225_1226insTTATACATGGCATGCATATATATAT (p.Gly409ValfsTer34)
n.3034_3035insTTATACATGGCATGCATATATATAT
 dbSNP gnomAD v2
1g.102978895C>ACA341163343COL11A1c.2674G>T (p.Gly892Cys)
c.2557G>T (p.Gly853Cys)
c.2710G>T (p.Gly904Cys)
c.2326G>T (p.Gly776Cys)
c.2008G>T
c.907G>T (p.Gly303Cys)
c.262G>T (p.Gly88Cys)
n.3088G>T
n.3008G>T
c.2827G>T (p.Gly943Cys)
c.2821G>T (p.Gly941Cys)
c.1225G>T (p.Gly409Cys)
n.3034G>T
1g.102978895C>GCA341163346COL11A1c.2674G>C (p.Gly892Arg)
c.2557G>C (p.Gly853Arg)
c.2710G>C (p.Gly904Arg)
c.2326G>C (p.Gly776Arg)
c.2008G>C
c.907G>C (p.Gly303Arg)
c.262G>C (p.Gly88Arg)
n.3088G>C
n.3008G>C
c.2827G>C (p.Gly943Arg)
c.2821G>C (p.Gly941Arg)
c.1225G>C (p.Gly409Arg)
n.3034G>C
 ClinVar
1g.102978895C>TCA341163348COL11A1c.2674G>A (p.Gly892Ser)
c.2557G>A (p.Gly853Ser)
c.2710G>A (p.Gly904Ser)
c.2326G>A (p.Gly776Ser)
c.2008G>A
c.907G>A (p.Gly303Ser)
c.262G>A (p.Gly88Ser)
n.3088G>A
n.3008G>A
c.2827G>A (p.Gly943Ser)
c.2821G>A (p.Gly941Ser)
c.1225G>A (p.Gly409Ser)
n.3034G>A
1g.102978896T>ACA341163353COL11A1c.2673A>T (p.Arg891Ser)
c.2556A>T (p.Arg852Ser)
c.2709A>T (p.Arg903Ser)
c.2325A>T (p.Arg775Ser)
c.2007A>T
c.906A>T (p.Arg302Ser)
c.261A>T (p.Arg87Ser)
n.3087A>T
n.3007A>T
c.2826A>T (p.Arg942Ser)
c.2820A>T (p.Arg940Ser)
c.1224A>T (p.Arg408Ser)
n.3033A>T
1g.102978896T>CCA419200300COL11A1c.2673A>G (p.Arg891=)
c.2556A>G (p.Arg852=)
c.2709A>G (p.Arg903=)
c.2325A>G (p.Arg775=)
c.2007A>G
c.906A>G (p.Arg302=)
c.261A>G (p.Arg87=)
n.3087A>G
n.3007A>G
c.2826A>G (p.Arg942=)
c.2820A>G (p.Arg940=)
c.1224A>G (p.Arg408=)
n.3033A>G
1g.102978896T>GCA341163355COL11A1c.2673A>C (p.Arg891Ser)
c.2556A>C (p.Arg852Ser)
c.2709A>C (p.Arg903Ser)
c.2325A>C (p.Arg775Ser)
c.2007A>C
c.906A>C (p.Arg302Ser)
c.261A>C (p.Arg87Ser)
n.3087A>C
n.3007A>C
c.2826A>C (p.Arg942Ser)
c.2820A>C (p.Arg940Ser)
c.1224A>C (p.Arg408Ser)
n.3033A>C
1g.102978897C>ACA341163357COL11A1c.2672G>T (p.Arg891Ile)
c.2555G>T (p.Arg852Ile)
c.2708G>T (p.Arg903Ile)
c.2324G>T (p.Arg775Ile)
c.2006G>T
c.905G>T (p.Arg302Ile)
c.260G>T (p.Arg87Ile)
n.3086G>T
n.3006G>T
c.2825G>T (p.Arg942Ile)
c.2819G>T (p.Arg940Ile)
c.1223G>T (p.Arg408Ile)
n.3032G>T
1g.102978897C>GCA341163365COL11A1c.2672G>C (p.Arg891Thr)
c.2555G>C (p.Arg852Thr)
c.2708G>C (p.Arg903Thr)
c.2324G>C (p.Arg775Thr)
c.2006G>C
c.905G>C (p.Arg302Thr)
c.260G>C (p.Arg87Thr)
n.3086G>C
n.3006G>C
c.2825G>C (p.Arg942Thr)
c.2819G>C (p.Arg940Thr)
c.1223G>C (p.Arg408Thr)
n.3032G>C
1g.102978897C>TCA341163371COL11A1c.2672G>A (p.Arg891Lys)
c.2555G>A (p.Arg852Lys)
c.2708G>A (p.Arg903Lys)
c.2324G>A (p.Arg775Lys)
c.2006G>A
c.905G>A (p.Arg302Lys)
c.260G>A (p.Arg87Lys)
n.3086G>A
n.3006G>A
c.2825G>A (p.Arg942Lys)
c.2819G>A (p.Arg940Lys)
c.1223G>A (p.Arg408Lys)
n.3032G>A
1g.102978898T>ACA341163373COL11A1c.2671A>T (p.Arg891Ter)
c.2554A>T (p.Arg852Ter)
c.2707A>T (p.Arg903Ter)
c.2323A>T (p.Arg775Ter)
c.2005A>T
c.904A>T (p.Arg302Ter)
c.259A>T (p.Arg87Ter)
n.3085A>T
n.3005A>T
c.2824A>T (p.Arg942Ter)
c.2818A>T (p.Arg940Ter)
c.1222A>T (p.Arg408Ter)
n.3031A>T
1g.102978898T>CCA341163379COL11A1c.2671A>G (p.Arg891Gly)
c.2554A>G (p.Arg852Gly)
c.2707A>G (p.Arg903Gly)
c.2323A>G (p.Arg775Gly)
c.2005A>G
c.904A>G (p.Arg302Gly)
c.259A>G (p.Arg87Gly)
n.3085A>G
n.3005A>G
c.2824A>G (p.Arg942Gly)
c.2818A>G (p.Arg940Gly)
c.1222A>G (p.Arg408Gly)
n.3031A>G
1g.102978898T>GCA419200304COL11A1c.2671A>C (p.Arg891=)
c.2554A>C (p.Arg852=)
c.2707A>C (p.Arg903=)
c.2323A>C (p.Arg775=)
c.2005A>C
c.904A>C (p.Arg302=)
c.259A>C (p.Arg87=)
n.3085A>C
n.3005A>C
c.2824A>C (p.Arg942=)
c.2818A>C (p.Arg940=)
c.1222A>C (p.Arg408=)
n.3031A>C
1g.102978899T>ACA419200305COL11A1c.2670A>T (p.Ser890=)
c.2553A>T (p.Ser851=)
c.2706A>T (p.Ser902=)
c.2322A>T (p.Ser774=)
c.2004A>T
c.903A>T (p.Ser301=)
c.258A>T (p.Ser86=)
n.3084A>T
n.3004A>T
c.2823A>T (p.Ser941=)
c.2817A>T (p.Ser939=)
c.1221A>T (p.Ser407=)
n.3030A>T
1g.102978899T>CCA419200307COL11A1c.2670A>G (p.Ser890=)
c.2553A>G (p.Ser851=)
c.2706A>G (p.Ser902=)
c.2322A>G (p.Ser774=)
c.2004A>G
c.903A>G (p.Ser301=)
c.258A>G (p.Ser86=)
n.3084A>G
n.3004A>G
c.2823A>G (p.Ser941=)
c.2817A>G (p.Ser939=)
c.1221A>G (p.Ser407=)
n.3030A>G
1g.102978899T>GCA419200306COL11A1c.2670A>C (p.Ser890=)
c.2553A>C (p.Ser851=)
c.2706A>C (p.Ser902=)
c.2322A>C (p.Ser774=)
c.2004A>C
c.903A>C (p.Ser301=)
c.258A>C (p.Ser86=)
n.3084A>C
n.3004A>C
c.2823A>C (p.Ser941=)
c.2817A>C (p.Ser939=)
c.1221A>C (p.Ser407=)
n.3030A>C
 gnomAD v4
1g.102978900G>ACA341163397COL11A1c.2669C>T (p.Ser890Leu)
c.2552C>T (p.Ser851Leu)
c.2705C>T (p.Ser902Leu)
c.2321C>T (p.Ser774Leu)
c.2003C>T
c.902C>T (p.Ser301Leu)
c.257C>T (p.Ser86Leu)
n.3083C>T
n.3003C>T
c.2822C>T (p.Ser941Leu)
c.2816C>T (p.Ser939Leu)
c.1220C>T (p.Ser407Leu)
n.3029C>T
1g.102978900G>CCA341163385COL11A1c.2669C>G (p.Ser890Ter)
c.2552C>G (p.Ser851Ter)
c.2705C>G (p.Ser902Ter)
c.2321C>G (p.Ser774Ter)
c.2003C>G
c.902C>G (p.Ser301Ter)
c.257C>G (p.Ser86Ter)
n.3083C>G
n.3003C>G
c.2822C>G (p.Ser941Ter)
c.2816C>G (p.Ser939Ter)
c.1220C>G (p.Ser407Ter)
n.3029C>G
1g.102978900G>TCA341163382COL11A1c.2669C>A (p.Ser890Ter)
c.2552C>A (p.Ser851Ter)
c.2705C>A (p.Ser902Ter)
c.2321C>A (p.Ser774Ter)
c.2003C>A
c.902C>A (p.Ser301Ter)
c.257C>A (p.Ser86Ter)
n.3083C>A
n.3003C>A
c.2822C>A (p.Ser941Ter)
c.2816C>A (p.Ser939Ter)
c.1220C>A (p.Ser407Ter)
n.3029C>A
 gnomAD v4
1g.102978901A>CCA341163398COL11A1c.2668T>G (p.Ser890Ala)
c.2551T>G (p.Ser851Ala)
c.2704T>G (p.Ser902Ala)
c.2320T>G (p.Ser774Ala)
c.2002T>G
c.901T>G (p.Ser301Ala)
c.256T>G (p.Ser86Ala)
n.3082T>G
n.3002T>G
c.2821T>G (p.Ser941Ala)
c.2815T>G (p.Ser939Ala)
c.1219T>G (p.Ser407Ala)
n.3028T>G
1g.102978901A>GCA341163399COL11A1c.2668T>C (p.Ser890Pro)
c.2551T>C (p.Ser851Pro)
c.2704T>C (p.Ser902Pro)
c.2320T>C (p.Ser774Pro)
c.2002T>C
c.901T>C (p.Ser301Pro)
c.256T>C (p.Ser86Pro)
n.3082T>C
n.3002T>C
c.2821T>C (p.Ser941Pro)
c.2815T>C (p.Ser939Pro)
c.1219T>C (p.Ser407Pro)
n.3028T>C
1g.102978901A>TCA341163400COL11A1c.2668T>A (p.Ser890Thr)
c.2551T>A (p.Ser851Thr)
c.2704T>A (p.Ser902Thr)
c.2320T>A (p.Ser774Thr)
c.2002T>A
c.901T>A (p.Ser301Thr)
c.256T>A (p.Ser86Thr)
n.3082T>A
n.3002T>A
c.2821T>A (p.Ser941Thr)
c.2815T>A (p.Ser939Thr)
c.1219T>A (p.Ser407Thr)
n.3028T>A
1g.102978902A>CCA419200311COL11A1c.2667T>G (p.Gly889=)
c.2550T>G (p.Gly850=)
c.2703T>G (p.Gly901=)
c.2319T>G (p.Gly773=)
c.2001T>G
c.900T>G (p.Gly300=)
c.255T>G (p.Gly85=)
n.3081T>G
n.3001T>G
c.2820T>G (p.Gly940=)
c.2814T>G (p.Gly938=)
c.1218T>G (p.Gly406=)
n.3027T>G
1g.102978902A>GCA419200312COL11A1c.2667T>C (p.Gly889=)
c.2550T>C (p.Gly850=)
c.2703T>C (p.Gly901=)
c.2319T>C (p.Gly773=)
c.2001T>C
c.900T>C (p.Gly300=)
c.255T>C (p.Gly85=)
n.3081T>C
n.3001T>C
c.2820T>C (p.Gly940=)
c.2814T>C (p.Gly938=)
c.1218T>C (p.Gly406=)
n.3027T>C
1g.102978902A>TCA419200313COL11A1c.2667T>A (p.Gly889=)
c.2550T>A (p.Gly850=)
c.2703T>A (p.Gly901=)
c.2319T>A (p.Gly773=)
c.2001T>A
c.900T>A (p.Gly300=)
c.255T>A (p.Gly85=)
n.3081T>A
n.3001T>A
c.2820T>A (p.Gly940=)
c.2814T>A (p.Gly938=)
c.1218T>A (p.Gly406=)
n.3027T>A
1g.102978903C>ACA341163404COL11A1c.2666G>T (p.Gly889Val)
c.2549G>T (p.Gly850Val)
c.2702G>T (p.Gly901Val)
c.2318G>T (p.Gly773Val)
c.2000G>T
c.899G>T (p.Gly300Val)
c.254G>T (p.Gly85Val)
n.3080G>T
n.3000G>T
c.2819G>T (p.Gly940Val)
c.2813G>T (p.Gly938Val)
c.1217G>T (p.Gly406Val)
n.3026G>T
 dbSNP gnomAD v4
1g.102978903C=CA1185271984COL11A1c.2666G= (p.Gly889=)
c.2549G= (p.Gly850=)
c.2702G= (p.Gly901=)
c.2318G= (p.Gly773=)
c.2000G=
c.899G= (p.Gly300=)
c.254G= (p.Gly85=)
n.3080G=
n.3000G=
c.2819G= (p.Gly940=)
c.2813G= (p.Gly938=)
c.1217G= (p.Gly406=)
n.3026G=
1g.102978903C>GCA341163410COL11A1c.2666G>C (p.Gly889Ala)
c.2549G>C (p.Gly850Ala)
c.2702G>C (p.Gly901Ala)
c.2318G>C (p.Gly773Ala)
c.2000G>C
c.899G>C (p.Gly300Ala)
c.254G>C (p.Gly85Ala)
n.3080G>C
n.3000G>C
c.2819G>C (p.Gly940Ala)
c.2813G>C (p.Gly938Ala)
c.1217G>C (p.Gly406Ala)
n.3026G>C
1g.102978903C>TCA341163412COL11A1c.2666G>A (p.Gly889Asp)
c.2549G>A (p.Gly850Asp)
c.2702G>A (p.Gly901Asp)
c.2318G>A (p.Gly773Asp)
c.2000G>A
c.899G>A (p.Gly300Asp)
c.254G>A (p.Gly85Asp)
n.3080G>A
n.3000G>A
c.2819G>A (p.Gly940Asp)
c.2813G>A (p.Gly938Asp)
c.1217G>A (p.Gly406Asp)
n.3026G>A
 gnomAD v4
1g.102978904delCA2646804934COL11A1c.2666del (p.Gly889ValfsTer?)
c.2549del (p.Gly850ValfsTer?)
c.2702del (p.Gly901ValfsTer?)
c.2318del (p.Gly773ValfsTer?)
c.2000del
c.899del (p.Gly300ValfsTer?)
c.254del (p.Gly85ValfsTer?)
n.3080del
n.3000del
c.2819del (p.Gly940ValfsTer?)
c.2813del (p.Gly938ValfsTer?)
c.1217del (p.Gly406ValfsTer?)
n.3026del
 gnomAD v4
1g.102978904C>ACA341163413COL11A1c.2665G>T (p.Gly889Cys)
c.2548G>T (p.Gly850Cys)
c.2701G>T (p.Gly901Cys)
c.2317G>T (p.Gly773Cys)
c.1999G>T
c.898G>T (p.Gly300Cys)
c.253G>T (p.Gly85Cys)
n.3079G>T
n.2999G>T
c.2818G>T (p.Gly940Cys)
c.2812G>T (p.Gly938Cys)
c.1216G>T (p.Gly406Cys)
n.3025G>T
1g.102978904C>GCA341163414COL11A1c.2665G>C (p.Gly889Arg)
c.2548G>C (p.Gly850Arg)
c.2701G>C (p.Gly901Arg)
c.2317G>C (p.Gly773Arg)
c.1999G>C
c.898G>C (p.Gly300Arg)
c.253G>C (p.Gly85Arg)
n.3079G>C
n.2999G>C
c.2818G>C (p.Gly940Arg)
c.2812G>C (p.Gly938Arg)
c.1216G>C (p.Gly406Arg)
n.3025G>C
1g.102978904C>TCA341163416COL11A1c.2665G>A (p.Gly889Ser)
c.2548G>A (p.Gly850Ser)
c.2701G>A (p.Gly901Ser)
c.2317G>A (p.Gly773Ser)
c.1999G>A
c.898G>A (p.Gly300Ser)
c.253G>A (p.Gly85Ser)
n.3079G>A
n.2999G>A
c.2818G>A (p.Gly940Ser)
c.2812G>A (p.Gly938Ser)
c.1216G>A (p.Gly406Ser)
n.3025G>A
1g.102978905T>ACA419200314COL11A1c.2664A>T (p.Arg888=)
c.2547A>T (p.Arg849=)
c.2700A>T (p.Arg900=)
c.2316A>T (p.Arg772=)
c.1998A>T
c.897A>T (p.Arg299=)
c.252A>T (p.Arg84=)
n.3078A>T
n.2998A>T
c.2817A>T (p.Arg939=)
c.2811A>T (p.Arg937=)
c.1215A>T (p.Arg405=)
n.3024A>T
1g.102978905T>CCA419200315COL11A1c.2664A>G (p.Arg888=)
c.2547A>G (p.Arg849=)
c.2700A>G (p.Arg900=)
c.2316A>G (p.Arg772=)
c.1998A>G
c.897A>G (p.Arg299=)
c.252A>G (p.Arg84=)
n.3078A>G
n.2998A>G
c.2817A>G (p.Arg939=)
c.2811A>G (p.Arg937=)
c.1215A>G (p.Arg405=)
n.3024A>G
1g.102978905T>GCA419200316COL11A1c.2664A>C (p.Arg888=)
c.2547A>C (p.Arg849=)
c.2700A>C (p.Arg900=)
c.2316A>C (p.Arg772=)
c.1998A>C
c.897A>C (p.Arg299=)
c.252A>C (p.Arg84=)
n.3078A>C
n.2998A>C
c.2817A>C (p.Arg939=)
c.2811A>C (p.Arg937=)
c.1215A>C (p.Arg405=)
n.3024A>C
1g.102978906C>ACA341163422COL11A1c.2663G>T (p.Arg888Leu)
c.2546G>T (p.Arg849Leu)
c.2699G>T (p.Arg900Leu)
c.2315G>T (p.Arg772Leu)
c.1997G>T
c.896G>T (p.Arg299Leu)
c.251G>T (p.Arg84Leu)
n.3077G>T
n.2997G>T
c.2816G>T (p.Arg939Leu)
c.2810G>T (p.Arg937Leu)
c.1214G>T (p.Arg405Leu)
n.3023G>T
1g.102978906C=CA1185271985COL11A1c.2663G= (p.Arg888=)
c.2546G= (p.Arg849=)
c.2699G= (p.Arg900=)
c.2315G= (p.Arg772=)
c.1997G=
c.896G= (p.Arg299=)
c.251G= (p.Arg84=)
n.3077G=
n.2997G=
c.2816G= (p.Arg939=)
c.2810G= (p.Arg937=)
c.1214G= (p.Arg405=)
n.3023G=
1g.102978906C>GCA341163424COL11A1c.2663G>C (p.Arg888Pro)
c.2546G>C (p.Arg849Pro)
c.2699G>C (p.Arg900Pro)
c.2315G>C (p.Arg772Pro)
c.1997G>C
c.896G>C (p.Arg299Pro)
c.251G>C (p.Arg84Pro)
n.3077G>C
n.2997G>C
c.2816G>C (p.Arg939Pro)
c.2810G>C (p.Arg937Pro)
c.1214G>C (p.Arg405Pro)
n.3023G>C
 dbSNP gnomAD v3 gnomAD v4
1g.102978906C>TCA974330COL11A1c.2663G>A (p.Arg888Gln)
c.2546G>A (p.Arg849Gln)
c.2699G>A (p.Arg900Gln)
c.2315G>A (p.Arg772Gln)
c.1997G>A
c.896G>A (p.Arg299Gln)
c.251G>A (p.Arg84Gln)
n.3077G>A
n.2997G>A
c.2816G>A (p.Arg939Gln)
c.2810G>A (p.Arg937Gln)
c.1214G>A (p.Arg405Gln)
n.3023G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.102978907G>ACA974331COL11A1c.2662C>T (p.Arg888Ter)
c.2545C>T (p.Arg849Ter)
c.2698C>T (p.Arg900Ter)
c.2314C>T (p.Arg772Ter)
c.1996C>T
c.895C>T (p.Arg299Ter)
c.250C>T (p.Arg84Ter)
n.3076C>T
n.2996C>T
c.2815C>T (p.Arg939Ter)
c.2809C>T (p.Arg937Ter)
c.1213C>T (p.Arg405Ter)
n.3022C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.102978907G>CCA341163427COL11A1c.2662C>G (p.Arg888Gly)
c.2545C>G (p.Arg849Gly)
c.2698C>G (p.Arg900Gly)
c.2314C>G (p.Arg772Gly)
c.1996C>G
c.895C>G (p.Arg299Gly)
c.250C>G (p.Arg84Gly)
n.3076C>G
n.2996C>G
c.2815C>G (p.Arg939Gly)
c.2809C>G (p.Arg937Gly)
c.1213C>G (p.Arg405Gly)
n.3022C>G
1g.102978907G=CA1149044023COL11A1c.2662C= (p.Arg888=)
c.2545C= (p.Arg849=)
c.2698C= (p.Arg900=)
c.2314C= (p.Arg772=)
c.1996C=
c.895C= (p.Arg299=)
c.250C= (p.Arg84=)
n.3076C=
n.2996C=
c.2815C= (p.Arg939=)
c.2809C= (p.Arg937=)
c.1213C= (p.Arg405=)
n.3022C=
1g.102978907G>TCA419200317COL11A1c.2662C>A (p.Arg888=)
c.2545C>A (p.Arg849=)
c.2698C>A (p.Arg900=)
c.2314C>A (p.Arg772=)
c.1996C>A
c.895C>A (p.Arg299=)
c.250C>A (p.Arg84=)
n.3076C>A
n.2996C>A
c.2815C>A (p.Arg939=)
c.2809C>A (p.Arg937=)
c.1213C>A (p.Arg405=)
n.3022C>A
1g.102978908A=CA1185271986COL11A1c.2661T= (p.Pro887=)
c.2544T= (p.Pro848=)
c.2697T= (p.Pro899=)
c.2313T= (p.Pro771=)
c.1995T=
c.894T= (p.Pro298=)
c.249T= (p.Pro83=)
n.3075T=
n.2995T=
c.2814T= (p.Pro938=)
c.2808T= (p.Pro936=)
c.1212T= (p.Pro404=)
n.3021T=
1g.102978908A>CCA974332COL11A1c.2661T>G (p.Pro887=)
c.2544T>G (p.Pro848=)
c.2697T>G (p.Pro899=)
c.2313T>G (p.Pro771=)
c.1995T>G
c.894T>G (p.Pro298=)
c.249T>G (p.Pro83=)
n.3075T>G
n.2995T>G
c.2814T>G (p.Pro938=)
c.2808T>G (p.Pro936=)
c.1212T>G (p.Pro404=)
n.3021T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.102978908A>GCA419200319COL11A1c.2661T>C (p.Pro887=)
c.2544T>C (p.Pro848=)
c.2697T>C (p.Pro899=)
c.2313T>C (p.Pro771=)
c.1995T>C
c.894T>C (p.Pro298=)
c.249T>C (p.Pro83=)
n.3075T>C
n.2995T>C
c.2814T>C (p.Pro938=)
c.2808T>C (p.Pro936=)
c.1212T>C (p.Pro404=)
n.3021T>C
1g.102978908A>TCA419200318COL11A1c.2661T>A (p.Pro887=)
c.2544T>A (p.Pro848=)
c.2697T>A (p.Pro899=)
c.2313T>A (p.Pro771=)
c.1995T>A
c.894T>A (p.Pro298=)
c.249T>A (p.Pro83=)
n.3075T>A
n.2995T>A
c.2814T>A (p.Pro938=)
c.2808T>A (p.Pro936=)
c.1212T>A (p.Pro404=)
n.3021T>A
1g.102978909G>ACA27703209COL11A1c.2660C>T (p.Pro887Leu)
c.2543C>T (p.Pro848Leu)
c.2696C>T (p.Pro899Leu)
c.2312C>T (p.Pro771Leu)
c.1994C>T
c.893C>T (p.Pro298Leu)
c.248C>T (p.Pro83Leu)
n.3074C>T
n.2994C>T
c.2813C>T (p.Pro938Leu)
c.2807C>T (p.Pro936Leu)
c.1211C>T (p.Pro404Leu)
n.3020C>T
 dbSNP gnomAD v4
1g.102978909G>CCA341163431COL11A1c.2660C>G (p.Pro887Arg)
c.2543C>G (p.Pro848Arg)
c.2696C>G (p.Pro899Arg)
c.2312C>G (p.Pro771Arg)
c.1994C>G
c.893C>G (p.Pro298Arg)
c.248C>G (p.Pro83Arg)
n.3074C>G
n.2994C>G
c.2813C>G (p.Pro938Arg)
c.2807C>G (p.Pro936Arg)
c.1211C>G (p.Pro404Arg)
n.3020C>G
 gnomAD v4
1g.102978909G=CA1149136577COL11A1c.2660C= (p.Pro887=)
c.2543C= (p.Pro848=)
c.2696C= (p.Pro899=)
c.2312C= (p.Pro771=)
c.1994C=
c.893C= (p.Pro298=)
c.248C= (p.Pro83=)
n.3074C=
n.2994C=
c.2813C= (p.Pro938=)
c.2807C= (p.Pro936=)
c.1211C= (p.Pro404=)
n.3020C=
1g.102978909G>TCA341163435COL11A1c.2660C>A (p.Pro887His)
c.2543C>A (p.Pro848His)
c.2696C>A (p.Pro899His)
c.2312C>A (p.Pro771His)
c.1994C>A
c.893C>A (p.Pro298His)
c.248C>A (p.Pro83His)
n.3074C>A
n.2994C>A
c.2813C>A (p.Pro938His)
c.2807C>A (p.Pro936His)
c.1211C>A (p.Pro404His)
n.3020C>A
1g.102978910G>ACA341163439COL11A1c.2659C>T (p.Pro887Ser)
c.2542C>T (p.Pro848Ser)
c.2695C>T (p.Pro899Ser)
c.2311C>T (p.Pro771Ser)
c.1993C>T
c.892C>T (p.Pro298Ser)
c.247C>T (p.Pro83Ser)
n.3073C>T
n.2993C>T
c.2812C>T (p.Pro938Ser)
c.2806C>T (p.Pro936Ser)
c.1210C>T (p.Pro404Ser)
n.3019C>T
1g.102978910G>CCA341163443COL11A1c.2659C>G (p.Pro887Ala)
c.2542C>G (p.Pro848Ala)
c.2695C>G (p.Pro899Ala)
c.2311C>G (p.Pro771Ala)
c.1993C>G
c.892C>G (p.Pro298Ala)
c.247C>G (p.Pro83Ala)
n.3073C>G
n.2993C>G
c.2812C>G (p.Pro938Ala)
c.2806C>G (p.Pro936Ala)
c.1210C>G (p.Pro404Ala)
n.3019C>G
1g.102978910G=CA1185271987COL11A1c.2659C= (p.Pro887=)
c.2542C= (p.Pro848=)
c.2695C= (p.Pro899=)
c.2311C= (p.Pro771=)
c.1993C=
c.892C= (p.Pro298=)
c.247C= (p.Pro83=)
n.3073C=
n.2993C=
c.2812C= (p.Pro938=)
c.2806C= (p.Pro936=)
c.1210C= (p.Pro404=)
n.3019C=
1g.102978910G>TCA27703210COL11A1c.2659C>A (p.Pro887Thr)
c.2542C>A (p.Pro848Thr)
c.2695C>A (p.Pro899Thr)
c.2311C>A (p.Pro771Thr)
c.1993C>A
c.892C>A (p.Pro298Thr)
c.247C>A (p.Pro83Thr)
n.3073C>A
n.2993C>A
c.2812C>A (p.Pro938Thr)
c.2806C>A (p.Pro936Thr)
c.1210C>A (p.Pro404Thr)
n.3019C>A
 dbSNP
1g.102978911A>CCA419200321COL11A1c.2658T>G (p.Gly886=)
c.2541T>G (p.Gly847=)
c.2694T>G (p.Gly898=)
c.2310T>G (p.Gly770=)
c.1992T>G
c.891T>G (p.Gly297=)
c.246T>G (p.Gly82=)
n.3072T>G
n.2992T>G
c.2811T>G (p.Gly937=)
c.2805T>G (p.Gly935=)
c.1209T>G (p.Gly403=)
n.3018T>G
1g.102978911A>GCA419200322COL11A1c.2658T>C (p.Gly886=)
c.2541T>C (p.Gly847=)
c.2694T>C (p.Gly898=)
c.2310T>C (p.Gly770=)
c.1992T>C
c.891T>C (p.Gly297=)
c.246T>C (p.Gly82=)
n.3072T>C
n.2992T>C
c.2811T>C (p.Gly937=)
c.2805T>C (p.Gly935=)
c.1209T>C (p.Gly403=)
n.3018T>C
1g.102978911A>TCA419200323COL11A1c.2658T>A (p.Gly886=)
c.2541T>A (p.Gly847=)
c.2694T>A (p.Gly898=)
c.2310T>A (p.Gly770=)
c.1992T>A
c.891T>A (p.Gly297=)
c.246T>A (p.Gly82=)
n.3072T>A
n.2992T>A
c.2811T>A (p.Gly937=)
c.2805T>A (p.Gly935=)
c.1209T>A (p.Gly403=)
n.3018T>A
1g.102978912C>ACA341163446COL11A1c.2657G>T (p.Gly886Val)
c.2540G>T (p.Gly847Val)
c.2693G>T (p.Gly898Val)
c.2309G>T (p.Gly770Val)
c.1991G>T
c.890G>T (p.Gly297Val)
c.245G>T (p.Gly82Val)
n.3071G>T
n.2991G>T
c.2810G>T (p.Gly937Val)
c.2804G>T (p.Gly935Val)
c.1208G>T (p.Gly403Val)
n.3017G>T
1g.102978912C>GCA341163447COL11A1c.2657G>C (p.Gly886Ala)
c.2540G>C (p.Gly847Ala)
c.2693G>C (p.Gly898Ala)
c.2309G>C (p.Gly770Ala)
c.1991G>C
c.890G>C (p.Gly297Ala)
c.245G>C (p.Gly82Ala)
n.3071G>C
n.2991G>C
c.2810G>C (p.Gly937Ala)
c.2804G>C (p.Gly935Ala)
c.1208G>C (p.Gly403Ala)
n.3017G>C
1g.102978912C>TCA341163449COL11A1c.2657G>A (p.Gly886Asp)
c.2540G>A (p.Gly847Asp)
c.2693G>A (p.Gly898Asp)
c.2309G>A (p.Gly770Asp)
c.1991G>A
c.890G>A (p.Gly297Asp)
c.245G>A (p.Gly82Asp)
n.3071G>A
n.2991G>A
c.2810G>A (p.Gly937Asp)
c.2804G>A (p.Gly935Asp)
c.1208G>A (p.Gly403Asp)
n.3017G>A
1g.102978912_102978913delinsAACA645536831COL11A1c.2656_2657delinsTT (p.Gly886Phe)
c.2539_2540delinsTT (p.Gly847Phe)
c.2692_2693delinsTT (p.Gly898Phe)
c.2308_2309delinsTT (p.Gly770Phe)
c.1990_1991delinsTT
c.889_890delinsTT (p.Gly297Phe)
c.244_245delinsTT (p.Gly82Phe)
n.3070_3071delinsTT
n.2990_2991delinsTT
c.2809_2810delinsTT (p.Gly937Phe)
c.2803_2804delinsTT (p.Gly935Phe)
c.1207_1208delinsTT (p.Gly403Phe)
n.3016_3017delinsTT
 COSMIC COSMIC
1g.102978913C>ACA341163452COL11A1c.2656G>T (p.Gly886Cys)
c.2539G>T (p.Gly847Cys)
c.2692G>T (p.Gly898Cys)
c.2308G>T (p.Gly770Cys)
c.1990G>T
c.889G>T (p.Gly297Cys)
c.244G>T (p.Gly82Cys)
n.3070G>T
n.2990G>T
c.2809G>T (p.Gly937Cys)
c.2803G>T (p.Gly935Cys)
c.1207G>T (p.Gly403Cys)
n.3016G>T
1g.102978913C>GCA341163453COL11A1c.2656G>C (p.Gly886Arg)
c.2539G>C (p.Gly847Arg)
c.2692G>C (p.Gly898Arg)
c.2308G>C (p.Gly770Arg)
c.1990G>C
c.889G>C (p.Gly297Arg)
c.244G>C (p.Gly82Arg)
n.3070G>C
n.2990G>C
c.2809G>C (p.Gly937Arg)
c.2803G>C (p.Gly935Arg)
c.1207G>C (p.Gly403Arg)
n.3016G>C
1g.102978913C>TCA341163455COL11A1c.2656G>A (p.Gly886Ser)
c.2539G>A (p.Gly847Ser)
c.2692G>A (p.Gly898Ser)
c.2308G>A (p.Gly770Ser)
c.1990G>A
c.889G>A (p.Gly297Ser)
c.244G>A (p.Gly82Ser)
n.3070G>A
n.2990G>A
c.2809G>A (p.Gly937Ser)
c.2803G>A (p.Gly935Ser)
c.1207G>A (p.Gly403Ser)
n.3016G>A
1g.102978914C>ACA341163468COL11A1c.2656-1G>T (n.2656-1G>T)
c.2539-1G>T (n.2539-1G>T)
c.2692-1G>T (n.2692-1G>T)
c.2308-1G>T (n.2308-1G>T)
c.1990-1G>T
c.889-1G>T (n.889-1G>T)
c.244-1G>T (n.244-1G>T)
n.3070-1G>T
n.2990-1G>T
c.2809-1G>T (n.2809-1G>T)
c.2803-1G>T (n.2803-1G>T)
c.1207-1G>T (n.1207-1G>T)
n.3016-1G>T
1g.102978914C>GCA341163467COL11A1c.2656-1G>C (n.2656-1G>C)
c.2539-1G>C (n.2539-1G>C)
c.2692-1G>C (n.2692-1G>C)
c.2308-1G>C (n.2308-1G>C)
c.1990-1G>C
c.889-1G>C (n.889-1G>C)
c.244-1G>C (n.244-1G>C)
n.3070-1G>C
n.2990-1G>C
c.2809-1G>C (n.2809-1G>C)
c.2803-1G>C (n.2803-1G>C)
c.1207-1G>C (n.1207-1G>C)
n.3016-1G>C
1g.102978914C>TCA341163457COL11A1c.2656-1G>A (n.2656-1G>A)
c.2539-1G>A (n.2539-1G>A)
c.2692-1G>A (n.2692-1G>A)
c.2308-1G>A (n.2308-1G>A)
c.1990-1G>A
c.889-1G>A (n.889-1G>A)
c.244-1G>A (n.244-1G>A)
n.3070-1G>A
n.2990-1G>A
c.2809-1G>A (n.2809-1G>A)
c.2803-1G>A (n.2803-1G>A)
c.1207-1G>A (n.1207-1G>A)
n.3016-1G>A
1g.102978915T>ACA341163473COL11A1c.2656-2A>T (n.2656-2A>T)
c.2539-2A>T (n.2539-2A>T)
c.2692-2A>T (n.2692-2A>T)
c.2308-2A>T (n.2308-2A>T)
c.1990-2A>T
c.889-2A>T (n.889-2A>T)
c.244-2A>T (n.244-2A>T)
n.3070-2A>T
n.2990-2A>T
c.2809-2A>T (n.2809-2A>T)
c.2803-2A>T (n.2803-2A>T)
c.1207-2A>T (n.1207-2A>T)
n.3016-2A>T
1g.102978915T>CCA341163478COL11A1c.2656-2A>G (n.2656-2A>G)
c.2539-2A>G (n.2539-2A>G)
c.2692-2A>G (n.2692-2A>G)
c.2308-2A>G (n.2308-2A>G)
c.1990-2A>G
c.889-2A>G (n.889-2A>G)
c.244-2A>G (n.244-2A>G)
n.3070-2A>G
n.2990-2A>G
c.2809-2A>G (n.2809-2A>G)
c.2803-2A>G (n.2803-2A>G)
c.1207-2A>G (n.1207-2A>G)
n.3016-2A>G
 COSMIC COSMIC
1g.102978915T>GCA341163475COL11A1c.2656-2A>C (n.2656-2A>C)
c.2539-2A>C (n.2539-2A>C)
c.2692-2A>C (n.2692-2A>C)
c.2308-2A>C (n.2308-2A>C)
c.1990-2A>C
c.889-2A>C (n.889-2A>C)
c.244-2A>C (n.244-2A>C)
n.3070-2A>C
n.2990-2A>C
c.2809-2A>C (n.2809-2A>C)
c.2803-2A>C (n.2803-2A>C)
c.1207-2A>C (n.1207-2A>C)
n.3016-2A>C

Number of alleles fetched