Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237365914C>ACA351186115COL6A3c.5004G>T (p.Arg1668Ser)
c.5622G>T (p.Arg1874Ser)
c.3801G>T (p.Arg1267Ser)
c.5022G>T (p.Arg1674Ser)
c.4401G>T (p.Arg1467Ser)
c.5121G>T (p.Arg1707Ser)
c.5619G>T (p.Arg1873Ser)
c.3216G>T (p.Arg1072Ser)
2g.237365914C=CA1337620488COL6A3c.5004G= (p.Arg1668=)
c.5622G= (p.Arg1874=)
c.3801G= (p.Arg1267=)
c.5022G= (p.Arg1674=)
c.4401G= (p.Arg1467=)
c.5121G= (p.Arg1707=)
c.5619G= (p.Arg1873=)
c.3216G= (p.Arg1072=)
2g.237365914C>GCA351186116COL6A3c.5004G>C (p.Arg1668Ser)
c.5622G>C (p.Arg1874Ser)
c.3801G>C (p.Arg1267Ser)
c.5022G>C (p.Arg1674Ser)
c.4401G>C (p.Arg1467Ser)
c.5121G>C (p.Arg1707Ser)
c.5619G>C (p.Arg1873Ser)
c.3216G>C (p.Arg1072Ser)
2g.237365914C>TCA10606245COL6A3c.5004G>A (p.Arg1668=)
c.5622G>A (p.Arg1874=)
c.3801G>A (p.Arg1267=)
c.5022G>A (p.Arg1674=)
c.4401G>A (p.Arg1467=)
c.5121G>A (p.Arg1707=)
c.5619G>A (p.Arg1873=)
c.3216G>A (p.Arg1072=)
 ClinVar dbSNP COSMIC
2g.237365915C>ACA351186117COL6A3c.5003G>T (p.Arg1668Met)
c.5621G>T (p.Arg1874Met)
c.3800G>T (p.Arg1267Met)
c.5021G>T (p.Arg1674Met)
c.4400G>T (p.Arg1467Met)
c.5120G>T (p.Arg1707Met)
c.5618G>T (p.Arg1873Met)
c.3215G>T (p.Arg1072Met)
2g.237365915C=CA1337620489COL6A3c.5003G= (p.Arg1668=)
c.5621G= (p.Arg1874=)
c.3800G= (p.Arg1267=)
c.5021G= (p.Arg1674=)
c.4400G= (p.Arg1467=)
c.5120G= (p.Arg1707=)
c.5618G= (p.Arg1873=)
c.3215G= (p.Arg1072=)
2g.237365915C>GCA351186118COL6A3c.5003G>C (p.Arg1668Thr)
c.5621G>C (p.Arg1874Thr)
c.3800G>C (p.Arg1267Thr)
c.5021G>C (p.Arg1674Thr)
c.4400G>C (p.Arg1467Thr)
c.5120G>C (p.Arg1707Thr)
c.5618G>C (p.Arg1873Thr)
c.3215G>C (p.Arg1072Thr)
 COSMIC
2g.237365915C>TCA351186119COL6A3c.5003G>A (p.Arg1668Lys)
c.5621G>A (p.Arg1874Lys)
c.3800G>A (p.Arg1267Lys)
c.5021G>A (p.Arg1674Lys)
c.4400G>A (p.Arg1467Lys)
c.5120G>A (p.Arg1707Lys)
c.5618G>A (p.Arg1873Lys)
c.3215G>A (p.Arg1072Lys)
 dbSNP gnomAD v4
2g.237365916T>ACA351186121COL6A3c.5002A>T (p.Arg1668Trp)
c.5620A>T (p.Arg1874Trp)
c.3799A>T (p.Arg1267Trp)
c.5020A>T (p.Arg1674Trp)
c.4399A>T (p.Arg1467Trp)
c.5119A>T (p.Arg1707Trp)
c.5617A>T (p.Arg1873Trp)
c.3214A>T (p.Arg1072Trp)
2g.237365916T>CCA351186120COL6A3c.5002A>G (p.Arg1668Gly)
c.5620A>G (p.Arg1874Gly)
c.3799A>G (p.Arg1267Gly)
c.5020A>G (p.Arg1674Gly)
c.4399A>G (p.Arg1467Gly)
c.5119A>G (p.Arg1707Gly)
c.5617A>G (p.Arg1873Gly)
c.3214A>G (p.Arg1072Gly)
 gnomAD v4
2g.237365916T>GCA431710354COL6A3c.5002A>C (p.Arg1668=)
c.5620A>C (p.Arg1874=)
c.3799A>C (p.Arg1267=)
c.5020A>C (p.Arg1674=)
c.4399A>C (p.Arg1467=)
c.5119A>C (p.Arg1707=)
c.5617A>C (p.Arg1873=)
c.3214A>C (p.Arg1072=)
2g.237365917G>ACA233832COL6A3c.5001C>T (p.His1667=)
c.5619C>T (p.His1873=)
c.3798C>T (p.His1266=)
c.5019C>T (p.His1673=)
c.4398C>T (p.His1466=)
c.5118C>T (p.His1706=)
c.5616C>T (p.His1872=)
c.3213C>T (p.His1071=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237365917G>CCA351186122COL6A3c.5001C>G (p.His1667Gln)
c.5619C>G (p.His1873Gln)
c.3798C>G (p.His1266Gln)
c.5019C>G (p.His1673Gln)
c.4398C>G (p.His1466Gln)
c.5118C>G (p.His1706Gln)
c.5616C>G (p.His1872Gln)
c.3213C>G (p.His1071Gln)
2g.237365917G=CA1337620490COL6A3c.5001C= (p.His1667=)
c.5619C= (p.His1873=)
c.3798C= (p.His1266=)
c.5019C= (p.His1673=)
c.4398C= (p.His1466=)
c.5118C= (p.His1706=)
c.5616C= (p.His1872=)
c.3213C= (p.His1071=)
2g.237365917G>TCA351186123COL6A3c.5001C>A (p.His1667Gln)
c.5619C>A (p.His1873Gln)
c.3798C>A (p.His1266Gln)
c.5019C>A (p.His1673Gln)
c.4398C>A (p.His1466Gln)
c.5118C>A (p.His1706Gln)
c.5616C>A (p.His1872Gln)
c.3213C>A (p.His1071Gln)
2g.237365918T>ACA351186124COL6A3c.5000A>T (p.His1667Leu)
c.5618A>T (p.His1873Leu)
c.3797A>T (p.His1266Leu)
c.5018A>T (p.His1673Leu)
c.4397A>T (p.His1466Leu)
c.5117A>T (p.His1706Leu)
c.5615A>T (p.His1872Leu)
c.3212A>T (p.His1071Leu)
2g.237365918T>CCA351186125COL6A3c.5000A>G (p.His1667Arg)
c.5618A>G (p.His1873Arg)
c.3797A>G (p.His1266Arg)
c.5018A>G (p.His1673Arg)
c.4397A>G (p.His1466Arg)
c.5117A>G (p.His1706Arg)
c.5615A>G (p.His1872Arg)
c.3212A>G (p.His1071Arg)
2g.237365918T>GCA351186126COL6A3c.5000A>C (p.His1667Pro)
c.5618A>C (p.His1873Pro)
c.3797A>C (p.His1266Pro)
c.5018A>C (p.His1673Pro)
c.4397A>C (p.His1466Pro)
c.5117A>C (p.His1706Pro)
c.5615A>C (p.His1872Pro)
c.3212A>C (p.His1071Pro)
2g.237365919G>ACA351186127COL6A3c.4999C>T (p.His1667Tyr)
c.5617C>T (p.His1873Tyr)
c.3796C>T (p.His1266Tyr)
c.5017C>T (p.His1673Tyr)
c.4396C>T (p.His1466Tyr)
c.5116C>T (p.His1706Tyr)
c.5614C>T (p.His1872Tyr)
c.3211C>T (p.His1071Tyr)
 COSMIC
2g.237365919G>CCA351186128COL6A3c.4999C>G (p.His1667Asp)
c.5617C>G (p.His1873Asp)
c.3796C>G (p.His1266Asp)
c.5017C>G (p.His1673Asp)
c.4396C>G (p.His1466Asp)
c.5116C>G (p.His1706Asp)
c.5614C>G (p.His1872Asp)
c.3211C>G (p.His1071Asp)
2g.237365919G>TCA351186129COL6A3c.4999C>A (p.His1667Asn)
c.5617C>A (p.His1873Asn)
c.3796C>A (p.His1266Asn)
c.5017C>A (p.His1673Asn)
c.4396C>A (p.His1466Asn)
c.5116C>A (p.His1706Asn)
c.5614C>A (p.His1872Asn)
c.3211C>A (p.His1071Asn)
2g.237365920C>ACA351186130COL6A3c.4998G>T (p.Met1666Ile)
c.5616G>T (p.Met1872Ile)
c.3795G>T (p.Met1265Ile)
c.5016G>T (p.Met1672Ile)
c.4395G>T (p.Met1465Ile)
c.5115G>T (p.Met1705Ile)
c.5613G>T (p.Met1871Ile)
c.3210G>T (p.Met1070Ile)
2g.237365920C=CA1337620491COL6A3c.4998G= (p.Met1666=)
c.5616G= (p.Met1872=)
c.3795G= (p.Met1265=)
c.5016G= (p.Met1672=)
c.4395G= (p.Met1465=)
c.5115G= (p.Met1705=)
c.5613G= (p.Met1871=)
c.3210G= (p.Met1070=)
2g.237365920C>GCA351186131COL6A3c.4998G>C (p.Met1666Ile)
c.5616G>C (p.Met1872Ile)
c.3795G>C (p.Met1265Ile)
c.5016G>C (p.Met1672Ile)
c.4395G>C (p.Met1465Ile)
c.5115G>C (p.Met1705Ile)
c.5613G>C (p.Met1871Ile)
c.3210G>C (p.Met1070Ile)
2g.237365920C>TCA351186132COL6A3c.4998G>A (p.Met1666Ile)
c.5616G>A (p.Met1872Ile)
c.3795G>A (p.Met1265Ile)
c.5016G>A (p.Met1672Ile)
c.4395G>A (p.Met1465Ile)
c.5115G>A (p.Met1705Ile)
c.5613G>A (p.Met1871Ile)
c.3210G>A (p.Met1070Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237365921A=CA1337620492COL6A3c.4997T= (p.Met1666=)
c.5615T= (p.Met1872=)
c.3794T= (p.Met1265=)
c.5015T= (p.Met1672=)
c.4394T= (p.Met1465=)
c.5114T= (p.Met1705=)
c.5612T= (p.Met1871=)
c.3209T= (p.Met1070=)
2g.237365921A>CCA351186134COL6A3c.4997T>G (p.Met1666Arg)
c.5615T>G (p.Met1872Arg)
c.3794T>G (p.Met1265Arg)
c.5015T>G (p.Met1672Arg)
c.4394T>G (p.Met1465Arg)
c.5114T>G (p.Met1705Arg)
c.5612T>G (p.Met1871Arg)
c.3209T>G (p.Met1070Arg)
2g.237365921A>GCA351186133COL6A3c.4997T>C (p.Met1666Thr)
c.5615T>C (p.Met1872Thr)
c.3794T>C (p.Met1265Thr)
c.5015T>C (p.Met1672Thr)
c.4394T>C (p.Met1465Thr)
c.5114T>C (p.Met1705Thr)
c.5612T>C (p.Met1871Thr)
c.3209T>C (p.Met1070Thr)
2g.237365921A>TCA2188625COL6A3c.4997T>A (p.Met1666Lys)
c.5615T>A (p.Met1872Lys)
c.3794T>A (p.Met1265Lys)
c.5015T>A (p.Met1672Lys)
c.4394T>A (p.Met1465Lys)
c.5114T>A (p.Met1705Lys)
c.5612T>A (p.Met1871Lys)
c.3209T>A (p.Met1070Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237365922T>ACA351186137COL6A3c.4996A>T (p.Met1666Leu)
c.5614A>T (p.Met1872Leu)
c.3793A>T (p.Met1265Leu)
c.5014A>T (p.Met1672Leu)
c.4393A>T (p.Met1465Leu)
c.5113A>T (p.Met1705Leu)
c.5611A>T (p.Met1871Leu)
c.3208A>T (p.Met1070Leu)
2g.237365922T>CCA351186135COL6A3c.4996A>G (p.Met1666Val)
c.5614A>G (p.Met1872Val)
c.3793A>G (p.Met1265Val)
c.5014A>G (p.Met1672Val)
c.4393A>G (p.Met1465Val)
c.5113A>G (p.Met1705Val)
c.5611A>G (p.Met1871Val)
c.3208A>G (p.Met1070Val)
2g.237365922T>GCA351186136COL6A3c.4996A>C (p.Met1666Leu)
c.5614A>C (p.Met1872Leu)
c.3793A>C (p.Met1265Leu)
c.5014A>C (p.Met1672Leu)
c.4393A>C (p.Met1465Leu)
c.5113A>C (p.Met1705Leu)
c.5611A>C (p.Met1871Leu)
c.3208A>C (p.Met1070Leu)
2g.237365923C>ACA351186138COL6A3c.4995G>T (p.Gln1665His)
c.5613G>T (p.Gln1871His)
c.3792G>T (p.Gln1264His)
c.5013G>T (p.Gln1671His)
c.4392G>T (p.Gln1464His)
c.5112G>T (p.Gln1704His)
c.5610G>T (p.Gln1870His)
c.3207G>T (p.Gln1069His)
2g.237365923C>GCA351186139COL6A3c.4995G>C (p.Gln1665His)
c.5613G>C (p.Gln1871His)
c.3792G>C (p.Gln1264His)
c.5013G>C (p.Gln1671His)
c.4392G>C (p.Gln1464His)
c.5112G>C (p.Gln1704His)
c.5610G>C (p.Gln1870His)
c.3207G>C (p.Gln1069His)
2g.237365923C>TCA431710362COL6A3c.4995G>A (p.Gln1665=)
c.5613G>A (p.Gln1871=)
c.3792G>A (p.Gln1264=)
c.5013G>A (p.Gln1671=)
c.4392G>A (p.Gln1464=)
c.5112G>A (p.Gln1704=)
c.5610G>A (p.Gln1870=)
c.3207G>A (p.Gln1069=)
2g.237365924T>ACA351186140COL6A3c.4994A>T (p.Gln1665Leu)
c.5612A>T (p.Gln1871Leu)
c.3791A>T (p.Gln1264Leu)
c.5012A>T (p.Gln1671Leu)
c.4391A>T (p.Gln1464Leu)
c.5111A>T (p.Gln1704Leu)
c.5609A>T (p.Gln1870Leu)
c.3206A>T (p.Gln1069Leu)
2g.237365924T>CCA351186141COL6A3c.4994A>G (p.Gln1665Arg)
c.5612A>G (p.Gln1871Arg)
c.3791A>G (p.Gln1264Arg)
c.5012A>G (p.Gln1671Arg)
c.4391A>G (p.Gln1464Arg)
c.5111A>G (p.Gln1704Arg)
c.5609A>G (p.Gln1870Arg)
c.3206A>G (p.Gln1069Arg)
2g.237365924T>GCA351186142COL6A3c.4994A>C (p.Gln1665Pro)
c.5612A>C (p.Gln1871Pro)
c.3791A>C (p.Gln1264Pro)
c.5012A>C (p.Gln1671Pro)
c.4391A>C (p.Gln1464Pro)
c.5111A>C (p.Gln1704Pro)
c.5609A>C (p.Gln1870Pro)
c.3206A>C (p.Gln1069Pro)
2g.237365925G>ACA351186143COL6A3c.4993C>T (p.Gln1665Ter)
c.5611C>T (p.Gln1871Ter)
c.3790C>T (p.Gln1264Ter)
c.5011C>T (p.Gln1671Ter)
c.4390C>T (p.Gln1464Ter)
c.5110C>T (p.Gln1704Ter)
c.5608C>T (p.Gln1870Ter)
c.3205C>T (p.Gln1069Ter)
2g.237365925G>CCA351186144COL6A3c.4993C>G (p.Gln1665Glu)
c.5611C>G (p.Gln1871Glu)
c.3790C>G (p.Gln1264Glu)
c.5011C>G (p.Gln1671Glu)
c.4390C>G (p.Gln1464Glu)
c.5110C>G (p.Gln1704Glu)
c.5608C>G (p.Gln1870Glu)
c.3205C>G (p.Gln1069Glu)
2g.237365925G>TCA351186145COL6A3c.4993C>A (p.Gln1665Lys)
c.5611C>A (p.Gln1871Lys)
c.3790C>A (p.Gln1264Lys)
c.5011C>A (p.Gln1671Lys)
c.4390C>A (p.Gln1464Lys)
c.5110C>A (p.Gln1704Lys)
c.5608C>A (p.Gln1870Lys)
c.3205C>A (p.Gln1069Lys)
2g.237365926G>ACA431710369COL6A3c.4992C>T (p.Ser1664=)
c.5610C>T (p.Ser1870=)
c.3789C>T (p.Ser1263=)
c.5010C>T (p.Ser1670=)
c.4389C>T (p.Ser1463=)
c.5109C>T (p.Ser1703=)
c.5607C>T (p.Ser1869=)
c.3204C>T (p.Ser1068=)
2g.237365926G>CCA351186146COL6A3c.4992C>G (p.Ser1664Arg)
c.5610C>G (p.Ser1870Arg)
c.3789C>G (p.Ser1263Arg)
c.5010C>G (p.Ser1670Arg)
c.4389C>G (p.Ser1463Arg)
c.5109C>G (p.Ser1703Arg)
c.5607C>G (p.Ser1869Arg)
c.3204C>G (p.Ser1068Arg)
2g.237365926G=CA1337620493COL6A3c.4992C= (p.Ser1664=)
c.5610C= (p.Ser1870=)
c.3789C= (p.Ser1263=)
c.5010C= (p.Ser1670=)
c.4389C= (p.Ser1463=)
c.5109C= (p.Ser1703=)
c.5607C= (p.Ser1869=)
c.3204C= (p.Ser1068=)
2g.237365926G>TCA222623COL6A3c.4992C>A (p.Ser1664Arg)
c.5610C>A (p.Ser1870Arg)
c.3789C>A (p.Ser1263Arg)
c.5010C>A (p.Ser1670Arg)
c.4389C>A (p.Ser1463Arg)
c.5109C>A (p.Ser1703Arg)
c.5607C>A (p.Ser1869Arg)
c.3204C>A (p.Ser1068Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237365927C>ACA351186148COL6A3c.4991G>T (p.Ser1664Ile)
c.5609G>T (p.Ser1870Ile)
c.3788G>T (p.Ser1263Ile)
c.5009G>T (p.Ser1670Ile)
c.4388G>T (p.Ser1463Ile)
c.5108G>T (p.Ser1703Ile)
c.5606G>T (p.Ser1869Ile)
c.3203G>T (p.Ser1068Ile)
 gnomAD v4
2g.237365927C=CA1337620494COL6A3c.4991G= (p.Ser1664=)
c.5609G= (p.Ser1870=)
c.3788G= (p.Ser1263=)
c.5009G= (p.Ser1670=)
c.4388G= (p.Ser1463=)
c.5108G= (p.Ser1703=)
c.5606G= (p.Ser1869=)
c.3203G= (p.Ser1068=)
2g.237365927C>GCA351186147COL6A3c.4991G>C (p.Ser1664Thr)
c.5609G>C (p.Ser1870Thr)
c.3788G>C (p.Ser1263Thr)
c.5009G>C (p.Ser1670Thr)
c.4388G>C (p.Ser1463Thr)
c.5108G>C (p.Ser1703Thr)
c.5606G>C (p.Ser1869Thr)
c.3203G>C (p.Ser1068Thr)
2g.237365927C>TCA2188626COL6A3c.4991G>A (p.Ser1664Asn)
c.5609G>A (p.Ser1870Asn)
c.3788G>A (p.Ser1263Asn)
c.5009G>A (p.Ser1670Asn)
c.4388G>A (p.Ser1463Asn)
c.5108G>A (p.Ser1703Asn)
c.5606G>A (p.Ser1869Asn)
c.3203G>A (p.Ser1068Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237365928T>ACA351186149COL6A3c.4990A>T (p.Ser1664Cys)
c.5608A>T (p.Ser1870Cys)
c.3787A>T (p.Ser1263Cys)
c.5008A>T (p.Ser1670Cys)
c.4387A>T (p.Ser1463Cys)
c.5107A>T (p.Ser1703Cys)
c.5605A>T (p.Ser1869Cys)
c.3202A>T (p.Ser1068Cys)

Number of alleles fetched