Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237359198T>A | CA540463671 | COL6A3 | c.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 |
2 | g.237359198T= | CA1337617427 | COL6A3 | c.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=) | |
2 | g.237359201C= | CA1337617428 | COL6A3 | c.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=) | |
2 | g.237359201C>T | CA540463672 | COL6A3 | c.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 |
2 | g.237359204A>C | CA351215910 | COL6A3 | c.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) | |
2 | g.237359204A>G | CA351215911 | COL6A3 | c.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 |
2 | g.237359204A>T | CA351215913 | COL6A3 | c.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) | |
2 | g.237359205C>A | CA10604809 | COL6A3 | c.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 |
2 | g.237359205C= | CA1337617429 | COL6A3 | c.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=) | |
2 | g.237359205C>G | CA351215915 | COL6A3 | c.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) | |
2 | g.237359205C>T | CA10605229 | COL6A3 | c.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 |
2 | g.237359209_237359217del | CA2586971654 | COL6A3 | c.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 | |
2 | g.237359206A>C | CA351215919 | COL6A3 | c.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) | |
2 | g.237359206A>G | CA431678315 | COL6A3 | c.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=) | |
2 | g.237359206A>T | CA351215921 | COL6A3 | c.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) | |
2 | g.237359207T>A | CA351215926 | COL6A3 | c.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 |
2 | g.237359207T>C | CA351215930 | COL6A3 | c.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) | |
2 | g.237359207T>G | CA351215929 | COL6A3 | c.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) | |
2 | g.237359208C>A | CA2188334 | COL6A3 | c.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 |
2 | g.237359208C= | CA1337617430 | COL6A3 | c.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=) | |
2 | g.237359208C>G | CA351215949 | COL6A3 | c.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) | |
2 | g.237359208C>T | CA351215950 | COL6A3 | c.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 |
2 | g.237359209T>A | CA351215954 | COL6A3 | c.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) | |
2 | g.237359209T>C | CA431678318 | COL6A3 | c.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=) | |
2 | g.237359209T>G | CA351215957 | COL6A3 | c.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) | |
2 | g.237359210T>A | CA351215967 | COL6A3 | c.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) | |
2 | g.237359210T>C | CA351215962 | COL6A3 | c.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) | |
2 | g.237359210T>G | CA351215958 | COL6A3 | c.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) | |
2 | g.237359211C>A | CA351215968 | COL6A3 | c.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) | |
2 | g.237359211C>G | CA351215969 | COL6A3 | c.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) | |
2 | g.237359211C>T | CA351215970 | COL6A3 | c.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 |
2 | g.237359211_237359220delinsCACCATCCAG | CA1337617431 | COL6A3 | c.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=) | |
2 | g.237359212A= | CA1337617432 | COL6A3 | c.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=) | |
2 | g.237359212A>C | CA431678321 | COL6A3 | c.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 |
2 | g.237359212A>G | CA431678319 | COL6A3 | c.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 |
2 | g.237359212A>T | CA431678320 | COL6A3 | c.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=) | |
2 | g.237359221_237359229del | CA645372714 | COL6A3 | c.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 |
2 | g.237359213C>A | CA351215971 | COL6A3 | c.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) | |
2 | g.237359213C= | CA1337617433 | COL6A3 | c.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=) | |
2 | g.237359213C>G | CA351215972 | COL6A3 | c.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) | |
2 | g.237359213C>T | CA351215973 | COL6A3 | c.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 |
2 | g.237359214C>A | CA351215974 | COL6A3 | c.5728G>T (p.Gly1910Cys) c.6346G>T (p.Gly2116Cys) c.4525G>T (p.Gly1509Cys) c.5746G>T (p.Gly1916Cys) c.5125G>T (p.Gly1709Cys) c.5845G>T (p.Gly1949Cys) c.6343G>T (p.Gly2115Cys) c.3940G>T (p.Gly1314Cys) | |
2 | g.237359214C>G | CA351215979 | COL6A3 | c.5728G>C (p.Gly1910Arg) c.6346G>C (p.Gly2116Arg) c.4525G>C (p.Gly1509Arg) c.5746G>C (p.Gly1916Arg) c.5125G>C (p.Gly1709Arg) c.5845G>C (p.Gly1949Arg) c.6343G>C (p.Gly2115Arg) c.3940G>C (p.Gly1314Arg) | |
2 | g.237359214C>T | CA351215975 | COL6A3 | c.5728G>A (p.Gly1910Ser) c.6346G>A (p.Gly2116Ser) c.4525G>A (p.Gly1509Ser) c.5746G>A (p.Gly1916Ser) c.5125G>A (p.Gly1709Ser) c.5845G>A (p.Gly1949Ser) c.6343G>A (p.Gly2115Ser) c.3940G>A (p.Gly1314Ser) | |
2 | g.237359215A= | CA1337617434 | COL6A3 | c.5727T= (p.Asp1909=) c.6345T= (p.Asp2115=) c.4524T= (p.Asp1508=) c.5745T= (p.Asp1915=) c.5124T= (p.Asp1708=) c.5844T= (p.Asp1948=) c.6342T= (p.Asp2114=) c.3939T= (p.Asp1313=) | |
2 | g.237359215A>C | CA351215981 | COL6A3 | c.5727T>G (p.Asp1909Glu) c.6345T>G (p.Asp2115Glu) c.4524T>G (p.Asp1508Glu) c.5745T>G (p.Asp1915Glu) c.5124T>G (p.Asp1708Glu) c.5844T>G (p.Asp1948Glu) c.6342T>G (p.Asp2114Glu) c.3939T>G (p.Asp1313Glu) | |
2 | g.237359215A>G | CA2188335 | COL6A3 | c.5727T>C (p.Asp1909=) c.6345T>C (p.Asp2115=) c.4524T>C (p.Asp1508=) c.5745T>C (p.Asp1915=) c.5124T>C (p.Asp1708=) c.5844T>C (p.Asp1948=) c.6342T>C (p.Asp2114=) c.3939T>C (p.Asp1313=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237359215A>T | CA351215984 | COL6A3 | c.5727T>A (p.Asp1909Glu) c.6345T>A (p.Asp2115Glu) c.4524T>A (p.Asp1508Glu) c.5745T>A (p.Asp1915Glu) c.5124T>A (p.Asp1708Glu) c.5844T>A (p.Asp1948Glu) c.6342T>A (p.Asp2114Glu) c.3939T>A (p.Asp1313Glu) | |
2 | g.237359216T>A | CA351215985 | COL6A3 | c.5726A>T (p.Asp1909Val) c.6344A>T (p.Asp2115Val) c.4523A>T (p.Asp1508Val) c.5744A>T (p.Asp1915Val) c.5123A>T (p.Asp1708Val) c.5843A>T (p.Asp1948Val) c.6341A>T (p.Asp2114Val) c.3938A>T (p.Asp1313Val) | |
2 | g.237359216T>C | CA67853220 | COL6A3 | c.5726A>G (p.Asp1909Gly) c.6344A>G (p.Asp2115Gly) c.4523A>G (p.Asp1508Gly) c.5744A>G (p.Asp1915Gly) c.5123A>G (p.Asp1708Gly) c.5843A>G (p.Asp1948Gly) c.6341A>G (p.Asp2114Gly) c.3938A>G (p.Asp1313Gly) | dbSNP gnomAD v2 gnomAD v4 |