Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237359189dupCA1043803279COL6A3c.5736+17dup (n.5736+17dup)
c.6354+17dup (n.6354+17dup)
c.4533+17dup (n.4533+17dup)
c.5754+17dup (n.5754+17dup)
c.5133+17dup (n.5133+17dup)
c.5853+17dup (n.5853+17dup)
c.6351+17dup (n.6351+17dup)
c.3948+17dup (n.3948+17dup)
 dbSNP gnomAD v3 gnomAD v4
2g.237359190delCA2663798091COL6A3c.5736+16del (n.5736+16del)
c.6354+16del (n.6354+16del)
c.4533+16del (n.4533+16del)
c.5754+16del (n.5754+16del)
c.5133+16del (n.5133+16del)
c.5853+16del (n.5853+16del)
c.6351+16del (n.6351+16del)
c.3948+16del (n.3948+16del)
 gnomAD v4
2g.237359190G>ACA540463670COL6A3c.5736+16C>T (n.5736+16C>T)
c.6354+16C>T (n.6354+16C>T)
c.4533+16C>T (n.4533+16C>T)
c.5754+16C>T (n.5754+16C>T)
c.5133+16C>T (n.5133+16C>T)
c.5853+16C>T (n.5853+16C>T)
c.6351+16C>T (n.6351+16C>T)
c.3948+16C>T (n.3948+16C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237359190G=CA1337617424COL6A3c.5736+16C= (n.5736+16C=)
c.6354+16C= (n.6354+16C=)
c.4533+16C= (n.4533+16C=)
c.5754+16C= (n.5754+16C=)
c.5133+16C= (n.5133+16C=)
c.5853+16C= (n.5853+16C=)
c.6351+16C= (n.6351+16C=)
c.3948+16C= (n.3948+16C=)
2g.237359191A=CA1337617425COL6A3c.5736+15T= (n.5736+15T=)
c.6354+15T= (n.6354+15T=)
c.4533+15T= (n.4533+15T=)
c.5754+15T= (n.5754+15T=)
c.5133+15T= (n.5133+15T=)
c.5853+15T= (n.5853+15T=)
c.6351+15T= (n.6351+15T=)
c.3948+15T= (n.3948+15T=)
2g.237359191A>GCA1043803280COL6A3c.5736+15T>C (n.5736+15T>C)
c.6354+15T>C (n.6354+15T>C)
c.4533+15T>C (n.4533+15T>C)
c.5754+15T>C (n.5754+15T>C)
c.5133+15T>C (n.5133+15T>C)
c.5853+15T>C (n.5853+15T>C)
c.6351+15T>C (n.6351+15T>C)
c.3948+15T>C (n.3948+15T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.237359193T>CCA67853175COL6A3c.5736+13A>G (n.5736+13A>G)
c.6354+13A>G (n.6354+13A>G)
c.4533+13A>G (n.4533+13A>G)
c.5754+13A>G (n.5754+13A>G)
c.5133+13A>G (n.5133+13A>G)
c.5853+13A>G (n.5853+13A>G)
c.6351+13A>G (n.6351+13A>G)
c.3948+13A>G (n.3948+13A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237359193T=CA1337617426COL6A3c.5736+13A= (n.5736+13A=)
c.6354+13A= (n.6354+13A=)
c.4533+13A= (n.4533+13A=)
c.5754+13A= (n.5754+13A=)
c.5133+13A= (n.5133+13A=)
c.5853+13A= (n.5853+13A=)
c.6351+13A= (n.6351+13A=)
c.3948+13A= (n.3948+13A=)
2g.237359194A>TCA2663798099COL6A3c.5736+12T>A (n.5736+12T>A)
c.6354+12T>A (n.6354+12T>A)
c.4533+12T>A (n.4533+12T>A)
c.5754+12T>A (n.5754+12T>A)
c.5133+12T>A (n.5133+12T>A)
c.5853+12T>A (n.5853+12T>A)
c.6351+12T>A (n.6351+12T>A)
c.3948+12T>A (n.3948+12T>A)
 ClinVar gnomAD v4
2g.237359198T>ACA540463671COL6A3c.5736+8A>T (n.5736+8A>T)
c.6354+8A>T (n.6354+8A>T)
c.4533+8A>T (n.4533+8A>T)
c.5754+8A>T (n.5754+8A>T)
c.5133+8A>T (n.5133+8A>T)
c.5853+8A>T (n.5853+8A>T)
c.6351+8A>T (n.6351+8A>T)
c.3948+8A>T (n.3948+8A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.237359198T=CA1337617427COL6A3c.5736+8A= (n.5736+8A=)
c.6354+8A= (n.6354+8A=)
c.4533+8A= (n.4533+8A=)
c.5754+8A= (n.5754+8A=)
c.5133+8A= (n.5133+8A=)
c.5853+8A= (n.5853+8A=)
c.6351+8A= (n.6351+8A=)
c.3948+8A= (n.3948+8A=)
2g.237359201C=CA1337617428COL6A3c.5736+5G= (n.5736+5G=)
c.6354+5G= (n.6354+5G=)
c.4533+5G= (n.4533+5G=)
c.5754+5G= (n.5754+5G=)
c.5133+5G= (n.5133+5G=)
c.5853+5G= (n.5853+5G=)
c.6351+5G= (n.6351+5G=)
c.3948+5G= (n.3948+5G=)
2g.237359201C>TCA540463672COL6A3c.5736+5G>A (n.5736+5G>A)
c.6354+5G>A (n.6354+5G>A)
c.4533+5G>A (n.4533+5G>A)
c.5754+5G>A (n.5754+5G>A)
c.5133+5G>A (n.5133+5G>A)
c.5853+5G>A (n.5853+5G>A)
c.6351+5G>A (n.6351+5G>A)
c.3948+5G>A (n.3948+5G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237359204A>CCA351215910COL6A3c.5736+2T>G (n.5736+2T>G)
c.6354+2T>G (n.6354+2T>G)
c.4533+2T>G (n.4533+2T>G)
c.5754+2T>G (n.5754+2T>G)
c.5133+2T>G (n.5133+2T>G)
c.5853+2T>G (n.5853+2T>G)
c.6351+2T>G (n.6351+2T>G)
c.3948+2T>G (n.3948+2T>G)
2g.237359204A>GCA351215911COL6A3c.5736+2T>C (n.5736+2T>C)
c.6354+2T>C (n.6354+2T>C)
c.4533+2T>C (n.4533+2T>C)
c.5754+2T>C (n.5754+2T>C)
c.5133+2T>C (n.5133+2T>C)
c.5853+2T>C (n.5853+2T>C)
c.6351+2T>C (n.6351+2T>C)
c.3948+2T>C (n.3948+2T>C)
 gnomAD v4
2g.237359204A>TCA351215913COL6A3c.5736+2T>A (n.5736+2T>A)
c.6354+2T>A (n.6354+2T>A)
c.4533+2T>A (n.4533+2T>A)
c.5754+2T>A (n.5754+2T>A)
c.5133+2T>A (n.5133+2T>A)
c.5853+2T>A (n.5853+2T>A)
c.6351+2T>A (n.6351+2T>A)
c.3948+2T>A (n.3948+2T>A)
2g.237359205C>ACA10604809COL6A3c.5736+1G>T (n.5736+1G>T)
c.6354+1G>T (n.6354+1G>T)
c.4533+1G>T (n.4533+1G>T)
c.5754+1G>T (n.5754+1G>T)
c.5133+1G>T (n.5133+1G>T)
c.5853+1G>T (n.5853+1G>T)
c.6351+1G>T (n.6351+1G>T)
c.3948+1G>T (n.3948+1G>T)
 ClinVar dbSNP
2g.237359205C=CA1337617429COL6A3c.5736+1G= (n.5736+1G=)
c.6354+1G= (n.6354+1G=)
c.4533+1G= (n.4533+1G=)
c.5754+1G= (n.5754+1G=)
c.5133+1G= (n.5133+1G=)
c.5853+1G= (n.5853+1G=)
c.6351+1G= (n.6351+1G=)
c.3948+1G= (n.3948+1G=)
2g.237359205C>GCA351215915COL6A3c.5736+1G>C (n.5736+1G>C)
c.6354+1G>C (n.6354+1G>C)
c.4533+1G>C (n.4533+1G>C)
c.5754+1G>C (n.5754+1G>C)
c.5133+1G>C (n.5133+1G>C)
c.5853+1G>C (n.5853+1G>C)
c.6351+1G>C (n.6351+1G>C)
c.3948+1G>C (n.3948+1G>C)
2g.237359205C>TCA10605229COL6A3c.5736+1G>A (n.5736+1G>A)
c.6354+1G>A (n.6354+1G>A)
c.4533+1G>A (n.4533+1G>A)
c.5754+1G>A (n.5754+1G>A)
c.5133+1G>A (n.5133+1G>A)
c.5853+1G>A (n.5853+1G>A)
c.6351+1G>A (n.6351+1G>A)
c.3948+1G>A (n.3948+1G>A)
 ClinVar dbSNP
2g.237359209_237359217delCA2586971654COL6A3c.5729_5736+1del
c.6347_6354+1del
c.4526_4533+1del
c.5747_5754+1del
c.5126_5133+1del
c.5846_5853+1del
c.6344_6351+1del
c.3941_3948+1del
2g.237359206A>CCA351215919COL6A3c.5736T>G (p.Asp1912Glu)
c.6354T>G (p.Asp2118Glu)
c.4533T>G (p.Asp1511Glu)
c.5754T>G (p.Asp1918Glu)
c.5133T>G (p.Asp1711Glu)
c.5853T>G (p.Asp1951Glu)
c.6351T>G (p.Asp2117Glu)
c.3948T>G (p.Asp1316Glu)
2g.237359206A>GCA431678315COL6A3c.5736T>C (p.Asp1912=)
c.6354T>C (p.Asp2118=)
c.4533T>C (p.Asp1511=)
c.5754T>C (p.Asp1918=)
c.5133T>C (p.Asp1711=)
c.5853T>C (p.Asp1951=)
c.6351T>C (p.Asp2117=)
c.3948T>C (p.Asp1316=)
2g.237359206A>TCA351215921COL6A3c.5736T>A (p.Asp1912Glu)
c.6354T>A (p.Asp2118Glu)
c.4533T>A (p.Asp1511Glu)
c.5754T>A (p.Asp1918Glu)
c.5133T>A (p.Asp1711Glu)
c.5853T>A (p.Asp1951Glu)
c.6351T>A (p.Asp2117Glu)
c.3948T>A (p.Asp1316Glu)
2g.237359207T>ACA351215926COL6A3c.5735A>T (p.Asp1912Val)
c.6353A>T (p.Asp2118Val)
c.4532A>T (p.Asp1511Val)
c.5753A>T (p.Asp1918Val)
c.5132A>T (p.Asp1711Val)
c.5852A>T (p.Asp1951Val)
c.6350A>T (p.Asp2117Val)
c.3947A>T (p.Asp1316Val)
 gnomAD v4
2g.237359207T>CCA351215930COL6A3c.5735A>G (p.Asp1912Gly)
c.6353A>G (p.Asp2118Gly)
c.4532A>G (p.Asp1511Gly)
c.5753A>G (p.Asp1918Gly)
c.5132A>G (p.Asp1711Gly)
c.5852A>G (p.Asp1951Gly)
c.6350A>G (p.Asp2117Gly)
c.3947A>G (p.Asp1316Gly)
2g.237359207T>GCA351215929COL6A3c.5735A>C (p.Asp1912Ala)
c.6353A>C (p.Asp2118Ala)
c.4532A>C (p.Asp1511Ala)
c.5753A>C (p.Asp1918Ala)
c.5132A>C (p.Asp1711Ala)
c.5852A>C (p.Asp1951Ala)
c.6350A>C (p.Asp2117Ala)
c.3947A>C (p.Asp1316Ala)
2g.237359208C>ACA2188334COL6A3c.5734G>T (p.Asp1912Tyr)
c.6352G>T (p.Asp2118Tyr)
c.4531G>T (p.Asp1511Tyr)
c.5752G>T (p.Asp1918Tyr)
c.5131G>T (p.Asp1711Tyr)
c.5851G>T (p.Asp1951Tyr)
c.6349G>T (p.Asp2117Tyr)
c.3946G>T (p.Asp1316Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359208C=CA1337617430COL6A3c.5734G= (p.Asp1912=)
c.6352G= (p.Asp2118=)
c.4531G= (p.Asp1511=)
c.5752G= (p.Asp1918=)
c.5131G= (p.Asp1711=)
c.5851G= (p.Asp1951=)
c.6349G= (p.Asp2117=)
c.3946G= (p.Asp1316=)
2g.237359208C>GCA351215949COL6A3c.5734G>C (p.Asp1912His)
c.6352G>C (p.Asp2118His)
c.4531G>C (p.Asp1511His)
c.5752G>C (p.Asp1918His)
c.5131G>C (p.Asp1711His)
c.5851G>C (p.Asp1951His)
c.6349G>C (p.Asp2117His)
c.3946G>C (p.Asp1316His)
2g.237359208C>TCA351215950COL6A3c.5734G>A (p.Asp1912Asn)
c.6352G>A (p.Asp2118Asn)
c.4531G>A (p.Asp1511Asn)
c.5752G>A (p.Asp1918Asn)
c.5131G>A (p.Asp1711Asn)
c.5851G>A (p.Asp1951Asn)
c.6349G>A (p.Asp2117Asn)
c.3946G>A (p.Asp1316Asn)
 gnomAD v4
2g.237359209T>ACA351215954COL6A3c.5733A>T (p.Glu1911Asp)
c.6351A>T (p.Glu2117Asp)
c.4530A>T (p.Glu1510Asp)
c.5751A>T (p.Glu1917Asp)
c.5130A>T (p.Glu1710Asp)
c.5850A>T (p.Glu1950Asp)
c.6348A>T (p.Glu2116Asp)
c.3945A>T (p.Glu1315Asp)
2g.237359209T>CCA431678318COL6A3c.5733A>G (p.Glu1911=)
c.6351A>G (p.Glu2117=)
c.4530A>G (p.Glu1510=)
c.5751A>G (p.Glu1917=)
c.5130A>G (p.Glu1710=)
c.5850A>G (p.Glu1950=)
c.6348A>G (p.Glu2116=)
c.3945A>G (p.Glu1315=)
2g.237359209T>GCA351215957COL6A3c.5733A>C (p.Glu1911Asp)
c.6351A>C (p.Glu2117Asp)
c.4530A>C (p.Glu1510Asp)
c.5751A>C (p.Glu1917Asp)
c.5130A>C (p.Glu1710Asp)
c.5850A>C (p.Glu1950Asp)
c.6348A>C (p.Glu2116Asp)
c.3945A>C (p.Glu1315Asp)
2g.237359210T>ACA351215967COL6A3c.5732A>T (p.Glu1911Val)
c.6350A>T (p.Glu2117Val)
c.4529A>T (p.Glu1510Val)
c.5750A>T (p.Glu1917Val)
c.5129A>T (p.Glu1710Val)
c.5849A>T (p.Glu1950Val)
c.6347A>T (p.Glu2116Val)
c.3944A>T (p.Glu1315Val)
2g.237359210T>CCA351215962COL6A3c.5732A>G (p.Glu1911Gly)
c.6350A>G (p.Glu2117Gly)
c.4529A>G (p.Glu1510Gly)
c.5750A>G (p.Glu1917Gly)
c.5129A>G (p.Glu1710Gly)
c.5849A>G (p.Glu1950Gly)
c.6347A>G (p.Glu2116Gly)
c.3944A>G (p.Glu1315Gly)
2g.237359210T>GCA351215958COL6A3c.5732A>C (p.Glu1911Ala)
c.6350A>C (p.Glu2117Ala)
c.4529A>C (p.Glu1510Ala)
c.5750A>C (p.Glu1917Ala)
c.5129A>C (p.Glu1710Ala)
c.5849A>C (p.Glu1950Ala)
c.6347A>C (p.Glu2116Ala)
c.3944A>C (p.Glu1315Ala)
2g.237359211C>ACA351215968COL6A3c.5731G>T (p.Glu1911Ter)
c.6349G>T (p.Glu2117Ter)
c.4528G>T (p.Glu1510Ter)
c.5749G>T (p.Glu1917Ter)
c.5128G>T (p.Glu1710Ter)
c.5848G>T (p.Glu1950Ter)
c.6346G>T (p.Glu2116Ter)
c.3943G>T (p.Glu1315Ter)
2g.237359211C>GCA351215969COL6A3c.5731G>C (p.Glu1911Gln)
c.6349G>C (p.Glu2117Gln)
c.4528G>C (p.Glu1510Gln)
c.5749G>C (p.Glu1917Gln)
c.5128G>C (p.Glu1710Gln)
c.5848G>C (p.Glu1950Gln)
c.6346G>C (p.Glu2116Gln)
c.3943G>C (p.Glu1315Gln)
2g.237359211C>TCA351215970COL6A3c.5731G>A (p.Glu1911Lys)
c.6349G>A (p.Glu2117Lys)
c.4528G>A (p.Glu1510Lys)
c.5749G>A (p.Glu1917Lys)
c.5128G>A (p.Glu1710Lys)
c.5848G>A (p.Glu1950Lys)
c.6346G>A (p.Glu2116Lys)
c.3943G>A (p.Glu1315Lys)
 gnomAD v4
2g.237359211_237359220delinsCACCATCCAGCA1337617431COL6A3c.5722_5731delinsCTGGATGGTG (p.Leu1908=)
c.6340_6349delinsCTGGATGGTG (p.Leu2114=)
c.4519_4528delinsCTGGATGGTG (p.Leu1507=)
c.5740_5749delinsCTGGATGGTG (p.Leu1914=)
c.5119_5128delinsCTGGATGGTG (p.Leu1707=)
c.5839_5848delinsCTGGATGGTG (p.Leu1947=)
c.6337_6346delinsCTGGATGGTG (p.Leu2113=)
c.3934_3943delinsCTGGATGGTG (p.Leu1312=)
2g.237359212A=CA1337617432COL6A3c.5730T= (p.Gly1910=)
c.6348T= (p.Gly2116=)
c.4527T= (p.Gly1509=)
c.5748T= (p.Gly1916=)
c.5127T= (p.Gly1709=)
c.5847T= (p.Gly1949=)
c.6345T= (p.Gly2115=)
c.3942T= (p.Gly1314=)
2g.237359212A>CCA431678321COL6A3c.5730T>G (p.Gly1910=)
c.6348T>G (p.Gly2116=)
c.4527T>G (p.Gly1509=)
c.5748T>G (p.Gly1916=)
c.5127T>G (p.Gly1709=)
c.5847T>G (p.Gly1949=)
c.6345T>G (p.Gly2115=)
c.3942T>G (p.Gly1314=)
 dbSNP
2g.237359212A>GCA431678319COL6A3c.5730T>C (p.Gly1910=)
c.6348T>C (p.Gly2116=)
c.4527T>C (p.Gly1509=)
c.5748T>C (p.Gly1916=)
c.5127T>C (p.Gly1709=)
c.5847T>C (p.Gly1949=)
c.6345T>C (p.Gly2115=)
c.3942T>C (p.Gly1314=)
 gnomAD v4
2g.237359212A>TCA431678320COL6A3c.5730T>A (p.Gly1910=)
c.6348T>A (p.Gly2116=)
c.4527T>A (p.Gly1509=)
c.5748T>A (p.Gly1916=)
c.5127T>A (p.Gly1709=)
c.5847T>A (p.Gly1949=)
c.6345T>A (p.Gly2115=)
c.3942T>A (p.Gly1314=)
2g.237359221_237359229delCA645372714COL6A3c.5722_5730del (p.Leu1908_Gly1910del)
c.6340_6348del (p.Leu2114_Gly2116del)
c.4519_4527del (p.Leu1507_Gly1509del)
c.5740_5748del (p.Leu1914_Gly1916del)
c.5119_5127del (p.Leu1707_Gly1709del)
c.5839_5847del (p.Leu1947_Gly1949del)
c.6337_6345del (p.Leu2113_Gly2115del)
c.3934_3942del (p.Leu1312_Gly1314del)
 ClinVar dbSNP
2g.237359213C>ACA351215971COL6A3c.5729G>T (p.Gly1910Val)
c.6347G>T (p.Gly2116Val)
c.4526G>T (p.Gly1509Val)
c.5747G>T (p.Gly1916Val)
c.5126G>T (p.Gly1709Val)
c.5846G>T (p.Gly1949Val)
c.6344G>T (p.Gly2115Val)
c.3941G>T (p.Gly1314Val)
2g.237359213C=CA1337617433COL6A3c.5729G= (p.Gly1910=)
c.6347G= (p.Gly2116=)
c.4526G= (p.Gly1509=)
c.5747G= (p.Gly1916=)
c.5126G= (p.Gly1709=)
c.5846G= (p.Gly1949=)
c.6344G= (p.Gly2115=)
c.3941G= (p.Gly1314=)
2g.237359213C>GCA351215972COL6A3c.5729G>C (p.Gly1910Ala)
c.6347G>C (p.Gly2116Ala)
c.4526G>C (p.Gly1509Ala)
c.5747G>C (p.Gly1916Ala)
c.5126G>C (p.Gly1709Ala)
c.5846G>C (p.Gly1949Ala)
c.6344G>C (p.Gly2115Ala)
c.3941G>C (p.Gly1314Ala)
2g.237359213C>TCA351215973COL6A3c.5729G>A (p.Gly1910Asp)
c.6347G>A (p.Gly2116Asp)
c.4526G>A (p.Gly1509Asp)
c.5747G>A (p.Gly1916Asp)
c.5126G>A (p.Gly1709Asp)
c.5846G>A (p.Gly1949Asp)
c.6344G>A (p.Gly2115Asp)
c.3941G>A (p.Gly1314Asp)
 dbSNP

Number of alleles fetched