Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237380874_237380876del | CA2701834523 | COL6A3 | c.1279+40_1279+42del (n.1279+40_1279+42del) c.1897+40_1897+42del (n.1897+40_1897+42del) c.676+40_676+42del (n.676+40_676+42del) c.92-3531_92-3529del (n.92-3531_92-3529del) | dbSNP |
2 | g.237380876G>T | CA2663799104 | COL6A3 | c.1279+39C>A (n.1279+39C>A) c.1897+39C>A (n.1897+39C>A) c.676+39C>A (n.676+39C>A) c.92-3532C>A (n.92-3532C>A) | gnomAD v4 |
2 | g.237380877A= | CA1337627162 | COL6A3 | c.1279+38T= (n.1279+38T=) c.1897+38T= (n.1897+38T=) c.676+38T= (n.676+38T=) c.92-3533T= (n.92-3533T=) | |
2 | g.237380877A>C | CA1337627163 | COL6A3 | c.1279+38T>G (n.1279+38T>G) c.1897+38T>G (n.1897+38T>G) c.676+38T>G (n.676+38T>G) c.92-3533T>G (n.92-3533T>G) | dbSNP |
2 | g.237380878C>A | CA1337627165 | COL6A3 | c.1279+37G>T (n.1279+37G>T) c.1897+37G>T (n.1897+37G>T) c.676+37G>T (n.676+37G>T) c.92-3534G>T (n.92-3534G>T) | dbSNP |
2 | g.237380878C= | CA1337627164 | COL6A3 | c.1279+37G= (n.1279+37G=) c.1897+37G= (n.1897+37G=) c.676+37G= (n.676+37G=) c.92-3534G= (n.92-3534G=) | |
2 | g.237380878C>T | CA2189529 | COL6A3 | c.1279+37G>A (n.1279+37G>A) c.1897+37G>A (n.1897+37G>A) c.676+37G>A (n.676+37G>A) c.92-3534G>A (n.92-3534G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380879C= | CA1337627166 | COL6A3 | c.1279+36G= (n.1279+36G=) c.1897+36G= (n.1897+36G=) c.676+36G= (n.676+36G=) c.92-3535G= (n.92-3535G=) | |
2 | g.237380879C>T | CA1337627167 | COL6A3 | c.1279+36G>A (n.1279+36G>A) c.1897+36G>A (n.1897+36G>A) c.676+36G>A (n.676+36G>A) c.92-3535G>A (n.92-3535G>A) | dbSNP gnomAD v4 |
2 | g.237380880A= | CA1337627168 | COL6A3 | c.1279+35T= (n.1279+35T=) c.1897+35T= (n.1897+35T=) c.676+35T= (n.676+35T=) c.92-3536T= (n.92-3536T=) | |
2 | g.237380880A>C | CA1337627169 | COL6A3 | c.1279+35T>G (n.1279+35T>G) c.1897+35T>G (n.1897+35T>G) c.676+35T>G (n.676+35T>G) c.92-3536T>G (n.92-3536T>G) | dbSNP |
2 | g.237380880_237380881delinsAC | CA1337627170 | COL6A3 | c.1279+34_1279+35delinsGT (n.1279+34_1279+35delinsGT) c.1897+34_1897+35delinsGT (n.1897+34_1897+35delinsGT) c.676+34_676+35delinsGT (n.676+34_676+35delinsGT) c.92-3537_92-3536delinsGT (n.92-3537_92-3536delinsGT) | |
2 | g.237380881C>A | CA2577290179 | COL6A3 | c.1279+34G>T (n.1279+34G>T) c.1897+34G>T (n.1897+34G>T) c.676+34G>T (n.676+34G>T) c.92-3537G>T (n.92-3537G>T) | gnomAD v4 |
2 | g.237380881C= | CA1337627171 | COL6A3 | c.1279+34G= (n.1279+34G=) c.1897+34G= (n.1897+34G=) c.676+34G= (n.676+34G=) c.92-3537G= (n.92-3537G=) | |
2 | g.237380881C>T | CA1337627172 | COL6A3 | c.1279+34G>A (n.1279+34G>A) c.1897+34G>A (n.1897+34G>A) c.676+34G>A (n.676+34G>A) c.92-3537G>A (n.92-3537G>A) | dbSNP gnomAD v4 |
2 | g.237380884del | CA540448797 | COL6A3 | c.1279+34del (n.1279+34del) c.1897+34del (n.1897+34del) c.676+34del (n.676+34del) c.92-3537del (n.92-3537del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380882C>A | CA2663799106 | COL6A3 | c.1279+33G>T (n.1279+33G>T) c.1897+33G>T (n.1897+33G>T) c.676+33G>T (n.676+33G>T) c.92-3538G>T (n.92-3538G>T) | gnomAD v4 |
2 | g.237380883C>A | CA2663799108 | COL6A3 | c.1279+32G>T (n.1279+32G>T) c.1897+32G>T (n.1897+32G>T) c.676+32G>T (n.676+32G>T) c.92-3539G>T (n.92-3539G>T) | gnomAD v4 |
2 | g.237380883C= | CA1337627173 | COL6A3 | c.1279+32G= (n.1279+32G=) c.1897+32G= (n.1897+32G=) c.676+32G= (n.676+32G=) c.92-3539G= (n.92-3539G=) | |
2 | g.237380883C>G | CA67828038 | COL6A3 | c.1279+32G>C (n.1279+32G>C) c.1897+32G>C (n.1897+32G>C) c.676+32G>C (n.676+32G>C) c.92-3539G>C (n.92-3539G>C) | dbSNP gnomAD v4 |
2 | g.237380883C>T | CA2558069079 | COL6A3 | c.1279+32G>A (n.1279+32G>A) c.1897+32G>A (n.1897+32G>A) c.676+32G>A (n.676+32G>A) c.92-3539G>A (n.92-3539G>A) | |
2 | g.237380884C= | CA1337627174 | COL6A3 | c.1279+31G= (n.1279+31G=) c.1897+31G= (n.1897+31G=) c.676+31G= (n.676+31G=) c.92-3540G= (n.92-3540G=) | |
2 | g.237380884C>T | CA2189530 | COL6A3 | c.1279+31G>A (n.1279+31G>A) c.1897+31G>A (n.1897+31G>A) c.676+31G>A (n.676+31G>A) c.92-3540G>A (n.92-3540G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380885A>T | CA2663799109 | COL6A3 | c.1279+30T>A (n.1279+30T>A) c.1897+30T>A (n.1897+30T>A) c.676+30T>A (n.676+30T>A) c.92-3541T>A (n.92-3541T>A) | gnomAD v4 |
2 | g.237380886T>C | CA67828044 | COL6A3 | c.1279+29A>G (n.1279+29A>G) c.1897+29A>G (n.1897+29A>G) c.676+29A>G (n.676+29A>G) c.92-3542A>G (n.92-3542A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380886T= | CA1337627175 | COL6A3 | c.1279+29A= (n.1279+29A=) c.1897+29A= (n.1897+29A=) c.676+29A= (n.676+29A=) c.92-3542A= (n.92-3542A=) | |
2 | g.237380888G>C | CA2701628717 | COL6A3 | c.1279+27C>G (n.1279+27C>G) c.1897+27C>G (n.1897+27C>G) c.676+27C>G (n.676+27C>G) c.92-3544C>G (n.92-3544C>G) | dbSNP |
2 | g.237380888G= | CA1337627176 | COL6A3 | c.1279+27C= (n.1279+27C=) c.1897+27C= (n.1897+27C=) c.676+27C= (n.676+27C=) c.92-3544C= (n.92-3544C=) | |
2 | g.237380888G>T | CA2189531 | COL6A3 | c.1279+27C>A (n.1279+27C>A) c.1897+27C>A (n.1897+27C>A) c.676+27C>A (n.676+27C>A) c.92-3544C>A (n.92-3544C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380893T>C | CA67828048 | COL6A3 | c.1279+22A>G (n.1279+22A>G) c.1897+22A>G (n.1897+22A>G) c.676+22A>G (n.676+22A>G) c.92-3549A>G (n.92-3549A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380893T= | CA1337627177 | COL6A3 | c.1279+22A= (n.1279+22A=) c.1897+22A= (n.1897+22A=) c.676+22A= (n.676+22A=) c.92-3549A= (n.92-3549A=) | |
2 | g.237380897A>G | CA2663799110 | COL6A3 | c.1279+18T>C (n.1279+18T>C) c.1897+18T>C (n.1897+18T>C) c.676+18T>C (n.676+18T>C) c.92-3553T>C (n.92-3553T>C) | gnomAD v4 |
2 | g.237380899G>C | CA1337627179 | COL6A3 | c.1279+16C>G (n.1279+16C>G) c.1897+16C>G (n.1897+16C>G) c.676+16C>G (n.676+16C>G) c.92-3555C>G (n.92-3555C>G) | ClinVar dbSNP |
2 | g.237380899G= | CA1337627178 | COL6A3 | c.1279+16C= (n.1279+16C=) c.1897+16C= (n.1897+16C=) c.676+16C= (n.676+16C=) c.92-3555C= (n.92-3555C=) | |
2 | g.237380899G>T | CA2663799111 | COL6A3 | c.1279+16C>A (n.1279+16C>A) c.1897+16C>A (n.1897+16C>A) c.676+16C>A (n.676+16C>A) c.92-3555C>A (n.92-3555C>A) | gnomAD v4 |
2 | g.237380900C>T | CA2663799112 | COL6A3 | c.1279+15G>A (n.1279+15G>A) c.1897+15G>A (n.1897+15G>A) c.676+15G>A (n.676+15G>A) c.92-3556G>A (n.92-3556G>A) | gnomAD v4 |
2 | g.237380901C>A | CA2663799113 | COL6A3 | c.1279+14G>T (n.1279+14G>T) c.1897+14G>T (n.1897+14G>T) c.676+14G>T (n.676+14G>T) c.92-3557G>T (n.92-3557G>T) | gnomAD v4 |
2 | g.237380901C= | CA1337627180 | COL6A3 | c.1279+14G= (n.1279+14G=) c.1897+14G= (n.1897+14G=) c.676+14G= (n.676+14G=) c.92-3557G= (n.92-3557G=) | |
2 | g.237380901C>T | CA540448804 | COL6A3 | c.1279+14G>A (n.1279+14G>A) c.1897+14G>A (n.1897+14G>A) c.676+14G>A (n.676+14G>A) c.92-3557G>A (n.92-3557G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380903T>A | CA2663799114 | COL6A3 | c.1279+12A>T (n.1279+12A>T) c.1897+12A>T (n.1897+12A>T) c.676+12A>T (n.676+12A>T) c.92-3559A>T (n.92-3559A>T) | gnomAD v4 |
2 | g.237380904C= | CA1337627181 | COL6A3 | c.1279+11G= (n.1279+11G=) c.1897+11G= (n.1897+11G=) c.676+11G= (n.676+11G=) c.92-3560G= (n.92-3560G=) | |
2 | g.237380904C>T | CA2189532 | COL6A3 | c.1279+11G>A (n.1279+11G>A) c.1897+11G>A (n.1897+11G>A) c.676+11G>A (n.676+11G>A) c.92-3560G>A (n.92-3560G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380905A= | CA1337627182 | COL6A3 | c.1279+10T= (n.1279+10T=) c.1897+10T= (n.1897+10T=) c.676+10T= (n.676+10T=) c.92-3561T= (n.92-3561T=) | |
2 | g.237380905A>C | CA1337627183 | COL6A3 | c.1279+10T>G (n.1279+10T>G) c.1897+10T>G (n.1897+10T>G) c.676+10T>G (n.676+10T>G) c.92-3561T>G (n.92-3561T>G) | dbSNP |
2 | g.237380909C= | CA1337627184 | COL6A3 | c.1279+6G= (n.1279+6G=) c.1897+6G= (n.1897+6G=) c.676+6G= (n.676+6G=) c.92-3565G= (n.92-3565G=) | |
2 | g.237380909C>T | CA540448806 | COL6A3 | c.1279+6G>A (n.1279+6G>A) c.1897+6G>A (n.1897+6G>A) c.676+6G>A (n.676+6G>A) c.92-3565G>A (n.92-3565G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380910C>A | CA2577290180 | COL6A3 | c.1279+5G>T (n.1279+5G>T) c.1897+5G>T (n.1897+5G>T) c.676+5G>T (n.676+5G>T) c.92-3566G>T (n.92-3566G>T) | |
2 | g.237380910C>T | CA2663799115 | COL6A3 | c.1279+5G>A (n.1279+5G>A) c.1897+5G>A (n.1897+5G>A) c.676+5G>A (n.676+5G>A) c.92-3566G>A (n.92-3566G>A) | gnomAD v4 |
2 | g.237380911del | CA2577290181 | COL6A3 | c.1279+4del (n.1279+4del) c.1897+4del (n.1897+4del) c.676+4del (n.676+4del) c.92-3567del (n.92-3567del) | |
2 | g.237380911A>G | CA2663799116 | COL6A3 | c.1279+4T>C (n.1279+4T>C) c.1897+4T>C (n.1897+4T>C) c.676+4T>C (n.676+4T>C) c.92-3567T>C (n.92-3567T>C) | gnomAD v4 |
2 | g.237380912T>C | CA2189533 | COL6A3 | c.1279+3A>G (n.1279+3A>G) c.1897+3A>G (n.1897+3A>G) c.676+3A>G (n.676+3A>G) c.92-3568A>G (n.92-3568A>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.237380912T= | CA1337627185 | COL6A3 | c.1279+3A= (n.1279+3A=) c.1897+3A= (n.1897+3A=) c.676+3A= (n.676+3A=) c.92-3568A= (n.92-3568A=) | |
2 | g.237380913A>C | CA351215354 | COL6A3 | c.1279+2T>G (n.1279+2T>G) c.1897+2T>G (n.1897+2T>G) c.676+2T>G (n.676+2T>G) c.92-3569T>G (n.92-3569T>G) | |
2 | g.237380913A>G | CA351215356 | COL6A3 | c.1279+2T>C (n.1279+2T>C) c.1897+2T>C (n.1897+2T>C) c.676+2T>C (n.676+2T>C) c.92-3569T>C (n.92-3569T>C) | |
2 | g.237380913A>T | CA351215358 | COL6A3 | c.1279+2T>A (n.1279+2T>A) c.1897+2T>A (n.1897+2T>A) c.676+2T>A (n.676+2T>A) c.92-3569T>A (n.92-3569T>A) | |
2 | g.237380914C>A | CA351215360 | COL6A3 | c.1279+1G>T (n.1279+1G>T) c.1897+1G>T (n.1897+1G>T) c.676+1G>T (n.676+1G>T) c.92-3570G>T (n.92-3570G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237380914C= | CA1337627186 | COL6A3 | c.1279+1G= (n.1279+1G=) c.1897+1G= (n.1897+1G=) c.676+1G= (n.676+1G=) c.92-3570G= (n.92-3570G=) | |
2 | g.237380914C>G | CA351215362 | COL6A3 | c.1279+1G>C (n.1279+1G>C) c.1897+1G>C (n.1897+1G>C) c.676+1G>C (n.676+1G>C) c.92-3570G>C (n.92-3570G>C) | |
2 | g.237380914C>T | CA351215364 | COL6A3 | c.1279+1G>A (n.1279+1G>A) c.1897+1G>A (n.1897+1G>A) c.676+1G>A (n.676+1G>A) c.92-3570G>A (n.92-3570G>A) | gnomAD v4 |
2 | g.237380915del | CA2663799117 | COL6A3 | c.1279+1del c.1897+1del c.676+1del c.92-3570del (n.92-3570del) | gnomAD v4 |
2 | g.237380915C>A | CA351215371 | COL6A3 | c.1279G>T (p.Val427Phe) c.1897G>T (p.Val633Phe) c.676G>T (p.Glu226Ter) c.676G>T (p.Val226Phe) c.1897G>T (p.Glu633Ter) c.92-3571G>T (n.92-3571G>T) | |
2 | g.237380915C>G | CA351215368 | COL6A3 | c.1279G>C (p.Val427Leu) c.1897G>C (p.Val633Leu) c.676G>C (p.Glu226Gln) c.676G>C (p.Val226Leu) c.1897G>C (p.Glu633Gln) c.92-3571G>C (n.92-3571G>C) | |
2 | g.237380915C>T | CA351215366 | COL6A3 | c.1279G>A (p.Val427Ile) c.1897G>A (p.Val633Ile) c.676G>A (p.Glu226Lys) c.676G>A (p.Val226Ile) c.1897G>A (p.Glu633Lys) c.92-3571G>A (n.92-3571G>A) | gnomAD v4 |
2 | g.237380916T>A | CA351215373 | COL6A3 | c.1278A>T (p.Glu426Asp) c.1896A>T (p.Glu632Asp) c.675A>T (p.Glu225Asp) c.92-3572A>T (n.92-3572A>T) | |
2 | g.237380916T>C | CA431674642 | COL6A3 | c.1278A>G (p.Glu426=) c.1896A>G (p.Glu632=) c.675A>G (p.Glu225=) c.92-3572A>G (n.92-3572A>G) | |
2 | g.237380916T>G | CA351215376 | COL6A3 | c.1278A>C (p.Glu426Asp) c.1896A>C (p.Glu632Asp) c.675A>C (p.Glu225Asp) c.92-3572A>C (n.92-3572A>C) | |
2 | g.237380917T>A | CA351215378 | COL6A3 | c.1277A>T (p.Glu426Val) c.1895A>T (p.Glu632Val) c.674A>T (p.Glu225Val) c.92-3573A>T (n.92-3573A>T) | |
2 | g.237380917T>C | CA351215380 | COL6A3 | c.1277A>G (p.Glu426Gly) c.1895A>G (p.Glu632Gly) c.674A>G (p.Glu225Gly) c.92-3573A>G (n.92-3573A>G) | |
2 | g.237380917T>G | CA351215383 | COL6A3 | c.1277A>C (p.Glu426Ala) c.1895A>C (p.Glu632Ala) c.674A>C (p.Glu225Ala) c.92-3573A>C (n.92-3573A>C) | |
2 | g.237380918C>A | CA351215385 | COL6A3 | c.1276G>T (p.Glu426Ter) c.1894G>T (p.Glu632Ter) c.673G>T (p.Glu225Ter) c.92-3574G>T (n.92-3574G>T) | |
2 | g.237380918C>G | CA351215387 | COL6A3 | c.1276G>C (p.Glu426Gln) c.1894G>C (p.Glu632Gln) c.673G>C (p.Glu225Gln) c.92-3574G>C (n.92-3574G>C) | |
2 | g.237380918C>T | CA351215389 | COL6A3 | c.1276G>A (p.Glu426Lys) c.1894G>A (p.Glu632Lys) c.673G>A (p.Glu225Lys) c.92-3574G>A (n.92-3574G>A) | |
2 | g.237380919A>C | CA431674643 | COL6A3 | c.1275T>G (p.Pro425=) c.1893T>G (p.Pro631=) c.672T>G (p.Pro224=) c.92-3575T>G (n.92-3575T>G) | |
2 | g.237380919A>G | CA431674644 | COL6A3 | c.1275T>C (p.Pro425=) c.1893T>C (p.Pro631=) c.672T>C (p.Pro224=) c.92-3575T>C (n.92-3575T>C) | |
2 | g.237380919A>T | CA431674645 | COL6A3 | c.1275T>A (p.Pro425=) c.1893T>A (p.Pro631=) c.672T>A (p.Pro224=) c.92-3575T>A (n.92-3575T>A) | |
2 | g.237380920G>A | CA351215392 | COL6A3 | c.1274C>T (p.Pro425Leu) c.1892C>T (p.Pro631Leu) c.671C>T (p.Pro224Leu) c.92-3576C>T (n.92-3576C>T) | |
2 | g.237380920G>C | CA351215394 | COL6A3 | c.1274C>G (p.Pro425Arg) c.1892C>G (p.Pro631Arg) c.671C>G (p.Pro224Arg) c.92-3576C>G (n.92-3576C>G) | |
2 | g.237380920G>T | CA351215395 | COL6A3 | c.1274C>A (p.Pro425His) c.1892C>A (p.Pro631His) c.671C>A (p.Pro224His) c.92-3576C>A (n.92-3576C>A) | |
2 | g.237380921G>A | CA351215397 | COL6A3 | c.1273C>T (p.Pro425Ser) c.1891C>T (p.Pro631Ser) c.670C>T (p.Pro224Ser) c.92-3577C>T (n.92-3577C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380921G>C | CA351215399 | COL6A3 | c.1273C>G (p.Pro425Ala) c.1891C>G (p.Pro631Ala) c.670C>G (p.Pro224Ala) c.92-3577C>G (n.92-3577C>G) | |
2 | g.237380921G= | CA1337627187 | COL6A3 | c.1273C= (p.Pro425=) c.1891C= (p.Pro631=) c.670C= (p.Pro224=) c.92-3577C= (n.92-3577C=) | |
2 | g.237380921G>T | CA351215401 | COL6A3 | c.1273C>A (p.Pro425Thr) c.1891C>A (p.Pro631Thr) c.670C>A (p.Pro224Thr) c.92-3577C>A (n.92-3577C>A) | |
2 | g.237380922G>A | CA431674647 | COL6A3 | c.1272C>T (p.Thr424=) c.1890C>T (p.Thr630=) c.669C>T (p.Thr223=) c.92-3578C>T (n.92-3578C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.237380922G>C | CA431674649 | COL6A3 | c.1272C>G (p.Thr424=) c.1890C>G (p.Thr630=) c.669C>G (p.Thr223=) c.92-3578C>G (n.92-3578C>G) | |
2 | g.237380922G= | CA1337627188 | COL6A3 | c.1272C= (p.Thr424=) c.1890C= (p.Thr630=) c.669C= (p.Thr223=) c.92-3578C= (n.92-3578C=) | |
2 | g.237380922G>T | CA431674648 | COL6A3 | c.1272C>A (p.Thr424=) c.1890C>A (p.Thr630=) c.669C>A (p.Thr223=) c.92-3578C>A (n.92-3578C>A) | |
2 | g.237380923G>A | CA351215405 | COL6A3 | c.1271C>T (p.Thr424Ile) c.1889C>T (p.Thr630Ile) c.668C>T (p.Thr223Ile) c.92-3579C>T (n.92-3579C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380923G>C | CA351215410 | COL6A3 | c.1271C>G (p.Thr424Ser) c.1889C>G (p.Thr630Ser) c.668C>G (p.Thr223Ser) c.92-3579C>G (n.92-3579C>G) | gnomAD v4 |
2 | g.237380923G= | CA1337627189 | COL6A3 | c.1271C= (p.Thr424=) c.1889C= (p.Thr630=) c.668C= (p.Thr223=) c.92-3579C= (n.92-3579C=) | |
2 | g.237380923G>T | CA351215403 | COL6A3 | c.1271C>A (p.Thr424Asn) c.1889C>A (p.Thr630Asn) c.668C>A (p.Thr223Asn) c.92-3579C>A (n.92-3579C>A) | |
2 | g.237380924T>A | CA351215412 | COL6A3 | c.1270A>T (p.Thr424Ser) c.1888A>T (p.Thr630Ser) c.667A>T (p.Thr223Ser) c.92-3580A>T (n.92-3580A>T) | |
2 | g.237380924T>C | CA351215414 | COL6A3 | c.1270A>G (p.Thr424Ala) c.1888A>G (p.Thr630Ala) c.667A>G (p.Thr223Ala) c.92-3580A>G (n.92-3580A>G) | |
2 | g.237380924T>G | CA351215416 | COL6A3 | c.1270A>C (p.Thr424Pro) c.1888A>C (p.Thr630Pro) c.667A>C (p.Thr223Pro) c.92-3580A>C (n.92-3580A>C) | |
2 | g.237380925T>A | CA431674650 | COL6A3 | c.1269A>T (p.Gly423=) c.1887A>T (p.Gly629=) c.666A>T (p.Gly222=) c.92-3581A>T (n.92-3581A>T) | |
2 | g.237380925T>C | CA431674652 | COL6A3 | c.1269A>G (p.Gly423=) c.1887A>G (p.Gly629=) c.666A>G (p.Gly222=) c.92-3581A>G (n.92-3581A>G) | gnomAD v4 |
2 | g.237380925T>G | CA431674653 | COL6A3 | c.1269A>C (p.Gly423=) c.1887A>C (p.Gly629=) c.666A>C (p.Gly222=) c.92-3581A>C (n.92-3581A>C) | |
2 | g.237380926C>A | CA351215418 | COL6A3 | c.1268G>T (p.Gly423Val) c.1886G>T (p.Gly629Val) c.665G>T (p.Gly222Val) c.92-3582G>T (n.92-3582G>T) | |
2 | g.237380926C= | CA1337627190 | COL6A3 | c.1268G= (p.Gly423=) c.1886G= (p.Gly629=) c.665G= (p.Gly222=) c.92-3582G= (n.92-3582G=) | |
2 | g.237380926C>G | CA351215423 | COL6A3 | c.1268G>C (p.Gly423Ala) c.1886G>C (p.Gly629Ala) c.665G>C (p.Gly222Ala) c.92-3582G>C (n.92-3582G>C) | |
2 | g.237380926C>T | CA2189534 | COL6A3 | c.1268G>A (p.Gly423Glu) c.1886G>A (p.Gly629Glu) c.665G>A (p.Gly222Glu) c.92-3582G>A (n.92-3582G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380927C>A | CA351215426 | COL6A3 | c.1267G>T (p.Gly423Ter) c.1885G>T (p.Gly629Ter) c.664G>T (p.Gly222Ter) c.92-3583G>T (n.92-3583G>T) | |
2 | g.237380927C>G | CA351215427 | COL6A3 | c.1267G>C (p.Gly423Arg) c.1885G>C (p.Gly629Arg) c.664G>C (p.Gly222Arg) c.92-3583G>C (n.92-3583G>C) | |
2 | g.237380927C>T | CA351215428 | COL6A3 | c.1267G>A (p.Gly423Arg) c.1885G>A (p.Gly629Arg) c.664G>A (p.Gly222Arg) c.92-3583G>A (n.92-3583G>A) | |
2 | g.237380928A>C | CA431674654 | COL6A3 | c.1266T>G (p.Ser422=) c.1884T>G (p.Ser628=) c.663T>G (p.Ser221=) c.92-3584T>G (n.92-3584T>G) | |
2 | g.237380928A>G | CA431674655 | COL6A3 | c.1266T>C (p.Ser422=) c.1884T>C (p.Ser628=) c.663T>C (p.Ser221=) c.92-3584T>C (n.92-3584T>C) | |
2 | g.237380928A>T | CA431674656 | COL6A3 | c.1266T>A (p.Ser422=) c.1884T>A (p.Ser628=) c.663T>A (p.Ser221=) c.92-3584T>A (n.92-3584T>A) | |
2 | g.237380929G>A | CA351215431 | COL6A3 | c.1265C>T (p.Ser422Phe) c.1883C>T (p.Ser628Phe) c.662C>T (p.Ser221Phe) c.92-3585C>T (n.92-3585C>T) | |
2 | g.237380929G>C | CA351215432 | COL6A3 | c.1265C>G (p.Ser422Cys) c.1883C>G (p.Ser628Cys) c.662C>G (p.Ser221Cys) c.92-3585C>G (n.92-3585C>G) | |
2 | g.237380929G>T | CA351215434 | COL6A3 | c.1265C>A (p.Ser422Tyr) c.1883C>A (p.Ser628Tyr) c.662C>A (p.Ser221Tyr) c.92-3585C>A (n.92-3585C>A) | |
2 | g.237380930A>C | CA351215439 | COL6A3 | c.1264T>G (p.Ser422Ala) c.1882T>G (p.Ser628Ala) c.661T>G (p.Ser221Ala) c.92-3586T>G (n.92-3586T>G) | |
2 | g.237380930A>G | CA351215437 | COL6A3 | c.1264T>C (p.Ser422Pro) c.1882T>C (p.Ser628Pro) c.661T>C (p.Ser221Pro) c.92-3586T>C (n.92-3586T>C) | |
2 | g.237380930A>T | CA351215436 | COL6A3 | c.1264T>A (p.Ser422Thr) c.1882T>A (p.Ser628Thr) c.661T>A (p.Ser221Thr) c.92-3586T>A (n.92-3586T>A) | |
2 | g.237380931G>A | CA2189535 | COL6A3 | c.1263C>T (p.Leu421=) c.1881C>T (p.Leu627=) c.660C>T (p.Leu220=) c.92-3587C>T (n.92-3587C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380931G>C | CA431674657 | COL6A3 | c.1263C>G (p.Leu421=) c.1881C>G (p.Leu627=) c.660C>G (p.Leu220=) c.92-3587C>G (n.92-3587C>G) | |
2 | g.237380931G= | CA1337627191 | COL6A3 | c.1263C= (p.Leu421=) c.1881C= (p.Leu627=) c.660C= (p.Leu220=) c.92-3587C= (n.92-3587C=) | |
2 | g.237380931G>T | CA431674659 | COL6A3 | c.1263C>A (p.Leu421=) c.1881C>A (p.Leu627=) c.660C>A (p.Leu220=) c.92-3587C>A (n.92-3587C>A) | gnomAD v4 |
2 | g.237380932A>C | CA351215442 | COL6A3 | c.1262T>G (p.Leu421Arg) c.1880T>G (p.Leu627Arg) c.659T>G (p.Leu220Arg) c.92-3588T>G (n.92-3588T>G) | |
2 | g.237380932A>G | CA351215444 | COL6A3 | c.1262T>C (p.Leu421Pro) c.1880T>C (p.Leu627Pro) c.659T>C (p.Leu220Pro) c.92-3588T>C (n.92-3588T>C) | |
2 | g.237380932A>T | CA351215446 | COL6A3 | c.1262T>A (p.Leu421His) c.1880T>A (p.Leu627His) c.659T>A (p.Leu220His) c.92-3588T>A (n.92-3588T>A) | |
2 | g.237380933G>A | CA351215448 | COL6A3 | c.1261C>T (p.Leu421Phe) c.1879C>T (p.Leu627Phe) c.658C>T (p.Leu220Phe) c.92-3589C>T (n.92-3589C>T) | |
2 | g.237380933G>C | CA351215450 | COL6A3 | c.1261C>G (p.Leu421Val) c.1879C>G (p.Leu627Val) c.658C>G (p.Leu220Val) c.92-3589C>G (n.92-3589C>G) | |
2 | g.237380933G>T | CA351215451 | COL6A3 | c.1261C>A (p.Leu421Ile) c.1879C>A (p.Leu627Ile) c.658C>A (p.Leu220Ile) c.92-3589C>A (n.92-3589C>A) | |
2 | g.237380934G>A | CA431674660 | COL6A3 | c.1260C>T (p.Thr420=) c.1878C>T (p.Thr626=) c.657C>T (p.Thr219=) c.92-3590C>T (n.92-3590C>T) | |
2 | g.237380934G>C | CA431674663 | COL6A3 | c.1260C>G (p.Thr420=) c.1878C>G (p.Thr626=) c.657C>G (p.Thr219=) c.92-3590C>G (n.92-3590C>G) | |
2 | g.237380934G>T | CA431674661 | COL6A3 | c.1260C>A (p.Thr420=) c.1878C>A (p.Thr626=) c.657C>A (p.Thr219=) c.92-3590C>A (n.92-3590C>A) | |
2 | g.237380935G>A | CA351215454 | COL6A3 | c.1259C>T (p.Thr420Ile) c.1877C>T (p.Thr626Ile) c.656C>T (p.Thr219Ile) c.92-3591C>T (n.92-3591C>T) | gnomAD v4 |
2 | g.237380935G>C | CA351215455 | COL6A3 | c.1259C>G (p.Thr420Ser) c.1877C>G (p.Thr626Ser) c.656C>G (p.Thr219Ser) c.92-3591C>G (n.92-3591C>G) | |
2 | g.237380935G>T | CA351215457 | COL6A3 | c.1259C>A (p.Thr420Asn) c.1877C>A (p.Thr626Asn) c.656C>A (p.Thr219Asn) c.92-3591C>A (n.92-3591C>A) | |
2 | g.237380936T>A | CA351215460 | COL6A3 | c.1258A>T (p.Thr420Ser) c.1876A>T (p.Thr626Ser) c.655A>T (p.Thr219Ser) c.92-3592A>T (n.92-3592A>T) | |
2 | g.237380936T>C | CA351215461 | COL6A3 | c.1258A>G (p.Thr420Ala) c.1876A>G (p.Thr626Ala) c.655A>G (p.Thr219Ala) c.92-3592A>G (n.92-3592A>G) | |
2 | g.237380936T>G | CA351215462 | COL6A3 | c.1258A>C (p.Thr420Pro) c.1876A>C (p.Thr626Pro) c.655A>C (p.Thr219Pro) c.92-3592A>C (n.92-3592A>C) | |
2 | g.237380937C>A | CA351215464 | COL6A3 | c.1257G>T (p.Arg419Ser) c.1875G>T (p.Arg625Ser) c.654G>T (p.Arg218Ser) c.92-3593G>T (n.92-3593G>T) | |
2 | g.237380937C= | CA1337627192 | COL6A3 | c.1257G= (p.Arg419=) c.1875G= (p.Arg625=) c.654G= (p.Arg218=) c.92-3593G= (n.92-3593G=) | |
2 | g.237380937C>G | CA351215466 | COL6A3 | c.1257G>C (p.Arg419Ser) c.1875G>C (p.Arg625Ser) c.654G>C (p.Arg218Ser) c.92-3593G>C (n.92-3593G>C) | |
2 | g.237380937C>T | CA431674665 | COL6A3 | c.1257G>A (p.Arg419=) c.1875G>A (p.Arg625=) c.654G>A (p.Arg218=) c.92-3593G>A (n.92-3593G>A) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.237380938C>A | CA351215469 | COL6A3 | c.1256G>T (p.Arg419Met) c.1874G>T (p.Arg625Met) c.653G>T (p.Arg218Met) c.92-3594G>T (n.92-3594G>T) | |
2 | g.237380938C= | CA1337627193 | COL6A3 | c.1256G= (p.Arg419=) c.1874G= (p.Arg625=) c.653G= (p.Arg218=) c.92-3594G= (n.92-3594G=) | |
2 | g.237380938C>G | CA2189536 | COL6A3 | c.1256G>C (p.Arg419Thr) c.1874G>C (p.Arg625Thr) c.653G>C (p.Arg218Thr) c.92-3594G>C (n.92-3594G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380938C>T | CA351215470 | COL6A3 | c.1256G>A (p.Arg419Lys) c.1874G>A (p.Arg625Lys) c.653G>A (p.Arg218Lys) c.92-3594G>A (n.92-3594G>A) | |
2 | g.237380939T>A | CA351215473 | COL6A3 | c.1255A>T (p.Arg419Trp) c.1873A>T (p.Arg625Trp) c.652A>T (p.Arg218Trp) c.92-3595A>T (n.92-3595A>T) | |
2 | g.237380939T>C | CA351215475 | COL6A3 | c.1255A>G (p.Arg419Gly) c.1873A>G (p.Arg625Gly) c.652A>G (p.Arg218Gly) c.92-3595A>G (n.92-3595A>G) | |
2 | g.237380939T>G | CA431674668 | COL6A3 | c.1255A>C (p.Arg419=) c.1873A>C (p.Arg625=) c.652A>C (p.Arg218=) c.92-3595A>C (n.92-3595A>C) | |
2 | g.237380940G>A | CA431674669 | COL6A3 | c.1254C>T (p.Leu418=) c.1872C>T (p.Leu624=) c.651C>T (p.Leu217=) c.92-3596C>T (n.92-3596C>T) | gnomAD v4 |
2 | g.237380940G>C | CA431674670 | COL6A3 | c.1254C>G (p.Leu418=) c.1872C>G (p.Leu624=) c.651C>G (p.Leu217=) c.92-3596C>G (n.92-3596C>G) | gnomAD v4 |
2 | g.237380940G= | CA1337627194 | COL6A3 | c.1254C= (p.Leu418=) c.1872C= (p.Leu624=) c.651C= (p.Leu217=) c.92-3596C= (n.92-3596C=) | |
2 | g.237380940G>T | CA10606233 | COL6A3 | c.1254C>A (p.Leu418=) c.1872C>A (p.Leu624=) c.651C>A (p.Leu217=) c.92-3596C>A (n.92-3596C>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.237380941A>C | CA351215477 | COL6A3 | c.1253T>G (p.Leu418Arg) c.1871T>G (p.Leu624Arg) c.650T>G (p.Leu217Arg) c.92-3597T>G (n.92-3597T>G) | |
2 | g.237380941A>G | CA351215479 | COL6A3 | c.1253T>C (p.Leu418Pro) c.1871T>C (p.Leu624Pro) c.650T>C (p.Leu217Pro) c.92-3597T>C (n.92-3597T>C) | |
2 | g.237380941A>T | CA351215481 | COL6A3 | c.1253T>A (p.Leu418His) c.1871T>A (p.Leu624His) c.650T>A (p.Leu217His) c.92-3597T>A (n.92-3597T>A) | |
2 | g.237380942G>A | CA351215483 | COL6A3 | c.1252C>T (p.Leu418Phe) c.1870C>T (p.Leu624Phe) c.649C>T (p.Leu217Phe) c.92-3598C>T (n.92-3598C>T) | COSMIC COSMIC |
2 | g.237380942G>C | CA351215485 | COL6A3 | c.1252C>G (p.Leu418Val) c.1870C>G (p.Leu624Val) c.649C>G (p.Leu217Val) c.92-3598C>G (n.92-3598C>G) | |
2 | g.237380942G>T | CA351215487 | COL6A3 | c.1252C>A (p.Leu418Ile) c.1870C>A (p.Leu624Ile) c.649C>A (p.Leu217Ile) c.92-3598C>A (n.92-3598C>A) | |
2 | g.237380943A>C | CA431674671 | COL6A3 | c.1251T>G (p.Pro417=) c.1869T>G (p.Pro623=) c.648T>G (p.Pro216=) c.92-3599T>G (n.92-3599T>G) | |
2 | g.237380943A>G | CA431674672 | COL6A3 | c.1251T>C (p.Pro417=) c.1869T>C (p.Pro623=) c.648T>C (p.Pro216=) c.92-3599T>C (n.92-3599T>C) | |
2 | g.237380943A>T | CA431674674 | COL6A3 | c.1251T>A (p.Pro417=) c.1869T>A (p.Pro623=) c.648T>A (p.Pro216=) c.92-3599T>A (n.92-3599T>A) | |
2 | g.237380944G>A | CA351215490 | COL6A3 | c.1250C>T (p.Pro417Leu) c.1868C>T (p.Pro623Leu) c.647C>T (p.Pro216Leu) c.92-3600C>T (n.92-3600C>T) | |
2 | g.237380944G>C | CA351215492 | COL6A3 | c.1250C>G (p.Pro417Arg) c.1868C>G (p.Pro623Arg) c.647C>G (p.Pro216Arg) c.92-3600C>G (n.92-3600C>G) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.237380944G>T | CA351215493 | COL6A3 | c.1250C>A (p.Pro417His) c.1868C>A (p.Pro623His) c.647C>A (p.Pro216His) c.92-3600C>A (n.92-3600C>A) | |
2 | g.237380945G>A | CA2189537 | COL6A3 | c.1249C>T (p.Pro417Ser) c.1867C>T (p.Pro623Ser) c.646C>T (p.Pro216Ser) c.92-3601C>T (n.92-3601C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380945G>C | CA351215499 | COL6A3 | c.1249C>G (p.Pro417Ala) c.1867C>G (p.Pro623Ala) c.646C>G (p.Pro216Ala) c.92-3601C>G (n.92-3601C>G) | |
2 | g.237380945G= | CA1337627195 | COL6A3 | c.1249C= (p.Pro417=) c.1867C= (p.Pro623=) c.646C= (p.Pro216=) c.92-3601C= (n.92-3601C=) | |
2 | g.237380945G>T | CA351215497 | COL6A3 | c.1249C>A (p.Pro417Thr) c.1867C>A (p.Pro623Thr) c.646C>A (p.Pro216Thr) c.92-3601C>A (n.92-3601C>A) | |
2 | g.237380946T>A | CA431674675 | COL6A3 | c.1248A>T (p.Ala416=) c.1866A>T (p.Ala622=) c.645A>T (p.Ala215=) c.92-3602A>T (n.92-3602A>T) | |
2 | g.237380946T>C | CA2189538 | COL6A3 | c.1248A>G (p.Ala416=) c.1866A>G (p.Ala622=) c.645A>G (p.Ala215=) c.92-3602A>G (n.92-3602A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380946T>G | CA431674677 | COL6A3 | c.1248A>C (p.Ala416=) c.1866A>C (p.Ala622=) c.645A>C (p.Ala215=) c.92-3602A>C (n.92-3602A>C) | |
2 | g.237380946T= | CA1337627196 | COL6A3 | c.1248A= (p.Ala416=) c.1866A= (p.Ala622=) c.645A= (p.Ala215=) c.92-3602A= (n.92-3602A=) | |
2 | g.237380947G>A | CA351215502 | COL6A3 | c.1247C>T (p.Ala416Val) c.1865C>T (p.Ala622Val) c.644C>T (p.Ala215Val) c.92-3603C>T (n.92-3603C>T) | COSMIC |
2 | g.237380947G>C | CA351215503 | COL6A3 | c.1247C>G (p.Ala416Gly) c.1865C>G (p.Ala622Gly) c.644C>G (p.Ala215Gly) c.92-3603C>G (n.92-3603C>G) | |
2 | g.237380947G= | CA1337627197 | COL6A3 | c.1247C= (p.Ala416=) c.1865C= (p.Ala622=) c.644C= (p.Ala215=) c.92-3603C= (n.92-3603C=) | |
2 | g.237380947G>T | CA351215504 | COL6A3 | c.1247C>A (p.Ala416Glu) c.1865C>A (p.Ala622Glu) c.644C>A (p.Ala215Glu) c.92-3603C>A (n.92-3603C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380952_237380959del | CA2577290182 | COL6A3 | c.1240_1247del (p.Leu414ThrfsTer10) c.1858_1865del (p.Leu620ThrfsTer10) c.637_644del (p.Leu213ThrfsTer10) c.92-3610_92-3603del (n.92-3610_92-3603del) | |
2 | g.237380948C>A | CA351215505 | COL6A3 | c.1246G>T (p.Ala416Ser) c.1864G>T (p.Ala622Ser) c.643G>T (p.Ala215Ser) c.92-3604G>T (n.92-3604G>T) | |
2 | g.237380948C= | CA1337627198 | COL6A3 | c.1246G= (p.Ala416=) c.1864G= (p.Ala622=) c.643G= (p.Ala215=) c.92-3604G= (n.92-3604G=) | |
2 | g.237380948C>G | CA351215506 | COL6A3 | c.1246G>C (p.Ala416Pro) c.1864G>C (p.Ala622Pro) c.643G>C (p.Ala215Pro) c.92-3604G>C (n.92-3604G>C) | |
2 | g.237380948C>T | CA2189539 | COL6A3 | c.1246G>A (p.Ala416Thr) c.1864G>A (p.Ala622Thr) c.643G>A (p.Ala215Thr) c.92-3604G>A (n.92-3604G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380949C>A | CA431674682 | COL6A3 | c.1245G>T (p.Leu415=) c.1863G>T (p.Leu621=) c.642G>T (p.Leu214=) c.92-3605G>T (n.92-3605G>T) | |
2 | g.237380949C>G | CA431674679 | COL6A3 | c.1245G>C (p.Leu415=) c.1863G>C (p.Leu621=) c.642G>C (p.Leu214=) c.92-3605G>C (n.92-3605G>C) | |
2 | g.237380949C>T | CA431674680 | COL6A3 | c.1245G>A (p.Leu415=) c.1863G>A (p.Leu621=) c.642G>A (p.Leu214=) c.92-3605G>A (n.92-3605G>A) | |
2 | g.237380949_237380950insCG | CA2561546323 | COL6A3 | c.1244_1245insCG (p.Ala416GlyfsTer?) c.1862_1863insCG (p.Ala622GlyfsTer?) c.641_642insCG (p.Ala215GlyfsTer?) c.92-3606_92-3605insCG (n.92-3606_92-3605insCG) | |
2 | g.237380950A>C | CA351215507 | COL6A3 | c.1244T>G (p.Leu415Arg) c.1862T>G (p.Leu621Arg) c.641T>G (p.Leu214Arg) c.92-3606T>G (n.92-3606T>G) | |
2 | g.237380950A>G | CA351215508 | COL6A3 | c.1244T>C (p.Leu415Pro) c.1862T>C (p.Leu621Pro) c.641T>C (p.Leu214Pro) c.92-3606T>C (n.92-3606T>C) | |
2 | g.237380950A>T | CA351215509 | COL6A3 | c.1244T>A (p.Leu415Gln) c.1862T>A (p.Leu621Gln) c.641T>A (p.Leu214Gln) c.92-3606T>A (n.92-3606T>A) | |
2 | g.237380951G>A | CA2189540 | COL6A3 | c.1243C>T (p.Leu415=) c.1861C>T (p.Leu621=) c.640C>T (p.Leu214=) c.92-3607C>T (n.92-3607C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380951G>C | CA351215511 | COL6A3 | c.1243C>G (p.Leu415Val) c.1861C>G (p.Leu621Val) c.640C>G (p.Leu214Val) c.92-3607C>G (n.92-3607C>G) | |
2 | g.237380951G= | CA1337627199 | COL6A3 | c.1243C= (p.Leu415=) c.1861C= (p.Leu621=) c.640C= (p.Leu214=) c.92-3607C= (n.92-3607C=) | |
2 | g.237380951G>T | CA351215510 | COL6A3 | c.1243C>A (p.Leu415Met) c.1861C>A (p.Leu621Met) c.640C>A (p.Leu214Met) c.92-3607C>A (n.92-3607C>A) | |
2 | g.237380952C>A | CA351215512 | COL6A3 | c.1242G>T (p.Leu414Phe) c.1860G>T (p.Leu620Phe) c.639G>T (p.Leu213Phe) c.92-3608G>T (n.92-3608G>T) | gnomAD v4 |
2 | g.237380952C>G | CA351215513 | COL6A3 | c.1242G>C (p.Leu414Phe) c.1860G>C (p.Leu620Phe) c.639G>C (p.Leu213Phe) c.92-3608G>C (n.92-3608G>C) | |
2 | g.237380952C>T | CA431674683 | COL6A3 | c.1242G>A (p.Leu414=) c.1860G>A (p.Leu620=) c.639G>A (p.Leu213=) c.92-3608G>A (n.92-3608G>A) | |
2 | g.237380953A>C | CA351215514 | COL6A3 | c.1241T>G (p.Leu414Trp) c.1859T>G (p.Leu620Trp) c.638T>G (p.Leu213Trp) c.92-3609T>G (n.92-3609T>G) | |
2 | g.237380953A>G | CA351215515 | COL6A3 | c.1241T>C (p.Leu414Ser) c.1859T>C (p.Leu620Ser) c.638T>C (p.Leu213Ser) c.92-3609T>C (n.92-3609T>C) | |
2 | g.237380953A>T | CA351215516 | COL6A3 | c.1241T>A (p.Leu414Ter) c.1859T>A (p.Leu620Ter) c.638T>A (p.Leu213Ter) c.92-3609T>A (n.92-3609T>A) | |
2 | g.237380954A>C | CA351215517 | COL6A3 | c.1240T>G (p.Leu414Val) c.1858T>G (p.Leu620Val) c.637T>G (p.Leu213Val) c.92-3610T>G (n.92-3610T>G) | |
2 | g.237380954A>G | CA431674685 | COL6A3 | c.1240T>C (p.Leu414=) c.1858T>C (p.Leu620=) c.637T>C (p.Leu213=) c.92-3610T>C (n.92-3610T>C) | |
2 | g.237380954A>T | CA351215518 | COL6A3 | c.1240T>A (p.Leu414Met) c.1858T>A (p.Leu620Met) c.637T>A (p.Leu213Met) c.92-3610T>A (n.92-3610T>A) | |
2 | g.237380955G>A | CA2189541 | COL6A3 | c.1239C>T (p.Gly413=) c.1857C>T (p.Gly619=) c.636C>T (p.Gly212=) c.92-3611C>T (n.92-3611C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380955G>C | CA431674686 | COL6A3 | c.1239C>G (p.Gly413=) c.1857C>G (p.Gly619=) c.636C>G (p.Gly212=) c.92-3611C>G (n.92-3611C>G) | |
2 | g.237380955G= | CA1337627200 | COL6A3 | c.1239C= (p.Gly413=) c.1857C= (p.Gly619=) c.636C= (p.Gly212=) c.92-3611C= (n.92-3611C=) | |
2 | g.237380955G>T | CA431674687 | COL6A3 | c.1239C>A (p.Gly413=) c.1857C>A (p.Gly619=) c.636C>A (p.Gly212=) c.92-3611C>A (n.92-3611C>A) | |
2 | g.237380956C>A | CA351215519 | COL6A3 | c.1238G>T (p.Gly413Val) c.1856G>T (p.Gly619Val) c.635G>T (p.Gly212Val) c.92-3612G>T (n.92-3612G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380956C= | CA1337627201 | COL6A3 | c.1238G= (p.Gly413=) c.1856G= (p.Gly619=) c.635G= (p.Gly212=) c.92-3612G= (n.92-3612G=) | |
2 | g.237380956C>G | CA351215520 | COL6A3 | c.1238G>C (p.Gly413Ala) c.1856G>C (p.Gly619Ala) c.635G>C (p.Gly212Ala) c.92-3612G>C (n.92-3612G>C) | dbSNP gnomAD v4 |
2 | g.237380956C>T | CA351215521 | COL6A3 | c.1238G>A (p.Gly413Asp) c.1856G>A (p.Gly619Asp) c.635G>A (p.Gly212Asp) c.92-3612G>A (n.92-3612G>A) | |
2 | g.237380957del | CA2663799120 | COL6A3 | c.1238del (p.Gly413AlafsTer?) c.1856del (p.Gly619AlafsTer?) c.635del (p.Gly212AlafsTer?) c.92-3612del (n.92-3612del) | gnomAD v4 |
2 | g.237380957C>A | CA351215522 | COL6A3 | c.1237G>T (p.Gly413Cys) c.1855G>T (p.Gly619Cys) c.634G>T (p.Gly212Cys) c.92-3613G>T (n.92-3613G>T) | |
2 | g.237380957C>G | CA351215523 | COL6A3 | c.1237G>C (p.Gly413Arg) c.1855G>C (p.Gly619Arg) c.634G>C (p.Gly212Arg) c.92-3613G>C (n.92-3613G>C) | |
2 | g.237380957C>T | CA351215524 | COL6A3 | c.1237G>A (p.Gly413Ser) c.1855G>A (p.Gly619Ser) c.634G>A (p.Gly212Ser) c.92-3613G>A (n.92-3613G>A) | |
2 | g.237380958A>C | CA431674688 | COL6A3 | c.1236T>G (p.Pro412=) c.1854T>G (p.Pro618=) c.633T>G (p.Pro211=) c.92-3614T>G (n.92-3614T>G) | |
2 | g.237380958A>G | CA431674690 | COL6A3 | c.1236T>C (p.Pro412=) c.1854T>C (p.Pro618=) c.633T>C (p.Pro211=) c.92-3614T>C (n.92-3614T>C) | |
2 | g.237380958A>T | CA431674689 | COL6A3 | c.1236T>A (p.Pro412=) c.1854T>A (p.Pro618=) c.633T>A (p.Pro211=) c.92-3614T>A (n.92-3614T>A) | |
2 | g.237380959G>A | CA351215525 | COL6A3 | c.1235C>T (p.Pro412Leu) c.1853C>T (p.Pro618Leu) c.632C>T (p.Pro211Leu) c.92-3615C>T (n.92-3615C>T) | |
2 | g.237380959G>C | CA351215527 | COL6A3 | c.1235C>G (p.Pro412Arg) c.1853C>G (p.Pro618Arg) c.632C>G (p.Pro211Arg) c.92-3615C>G (n.92-3615C>G) | |
2 | g.237380959G>T | CA351215526 | COL6A3 | c.1235C>A (p.Pro412His) c.1853C>A (p.Pro618His) c.632C>A (p.Pro211His) c.92-3615C>A (n.92-3615C>A) | |
2 | g.237380960del | CA2663799121 | COL6A3 | c.1235del (p.Pro412LeufsTer?) c.1853del (p.Pro618LeufsTer?) c.632del (p.Pro211LeufsTer?) c.92-3615del (n.92-3615del) | gnomAD v4 |
2 | g.237380960G>A | CA67828100 | COL6A3 | c.1234C>T (p.Pro412Ser) c.1852C>T (p.Pro618Ser) c.631C>T (p.Pro211Ser) c.92-3616C>T (n.92-3616C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.237380960G>C | CA351215528 | COL6A3 | c.1234C>G (p.Pro412Ala) c.1852C>G (p.Pro618Ala) c.631C>G (p.Pro211Ala) c.92-3616C>G (n.92-3616C>G) | |
2 | g.237380960G= | CA1337627202 | COL6A3 | c.1234C= (p.Pro412=) c.1852C= (p.Pro618=) c.631C= (p.Pro211=) c.92-3616C= (n.92-3616C=) | |
2 | g.237380960G>T | CA351215530 | COL6A3 | c.1234C>A (p.Pro412Thr) c.1852C>A (p.Pro618Thr) c.631C>A (p.Pro211Thr) c.92-3616C>A (n.92-3616C>A) | |
2 | g.237380961C>A | CA431674693 | COL6A3 | c.1233G>T (p.Leu411=) c.1851G>T (p.Leu617=) c.630G>T (p.Leu210=) c.92-3617G>T (n.92-3617G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380961C= | CA1337627203 | COL6A3 | c.1233G= (p.Leu411=) c.1851G= (p.Leu617=) c.630G= (p.Leu210=) c.92-3617G= (n.92-3617G=) | |
2 | g.237380961C>G | CA431674691 | COL6A3 | c.1233G>C (p.Leu411=) c.1851G>C (p.Leu617=) c.630G>C (p.Leu210=) c.92-3617G>C (n.92-3617G>C) | |
2 | g.237380961C>T | CA431674692 | COL6A3 | c.1233G>A (p.Leu411=) c.1851G>A (p.Leu617=) c.630G>A (p.Leu210=) c.92-3617G>A (n.92-3617G>A) | COSMIC COSMIC |
2 | g.237380962A= | CA1337627204 | COL6A3 | c.1232T= (p.Leu411=) c.1850T= (p.Leu617=) c.629T= (p.Leu210=) c.92-3618T= (n.92-3618T=) | |
2 | g.237380962A>C | CA351215533 | COL6A3 | c.1232T>G (p.Leu411Arg) c.1850T>G (p.Leu617Arg) c.629T>G (p.Leu210Arg) c.92-3618T>G (n.92-3618T>G) | |
2 | g.237380962A>G | CA351215534 | COL6A3 | c.1232T>C (p.Leu411Pro) c.1850T>C (p.Leu617Pro) c.629T>C (p.Leu210Pro) c.92-3618T>C (n.92-3618T>C) | |
2 | g.237380962A>T | CA351215536 | COL6A3 | c.1232T>A (p.Leu411Gln) c.1850T>A (p.Leu617Gln) c.629T>A (p.Leu210Gln) c.92-3618T>A (n.92-3618T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380963G>A | CA2189542 | COL6A3 | c.1231C>T (p.Leu411=) c.1849C>T (p.Leu617=) c.628C>T (p.Leu210=) c.92-3619C>T (n.92-3619C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380963G>C | CA351215540 | COL6A3 | c.1231C>G (p.Leu411Val) c.1849C>G (p.Leu617Val) c.628C>G (p.Leu210Val) c.92-3619C>G (n.92-3619C>G) | |
2 | g.237380963G= | CA1337627205 | COL6A3 | c.1231C= (p.Leu411=) c.1849C= (p.Leu617=) c.628C= (p.Leu210=) c.92-3619C= (n.92-3619C=) | |
2 | g.237380963G>T | CA351215542 | COL6A3 | c.1231C>A (p.Leu411Met) c.1849C>A (p.Leu617Met) c.628C>A (p.Leu210Met) c.92-3619C>A (n.92-3619C>A) | |
2 | g.237380964C>A | CA351215545 | COL6A3 | c.1230G>T (p.Met410Ile) c.1848G>T (p.Met616Ile) c.627G>T (p.Met209Ile) c.92-3620G>T (n.92-3620G>T) | |
2 | g.237380964C= | CA1337627206 | COL6A3 | c.1230G= (p.Met410=) c.1848G= (p.Met616=) c.627G= (p.Met209=) c.92-3620G= (n.92-3620G=) | |
2 | g.237380964C>G | CA351215548 | COL6A3 | c.1230G>C (p.Met410Ile) c.1848G>C (p.Met616Ile) c.627G>C (p.Met209Ile) c.92-3620G>C (n.92-3620G>C) | |
2 | g.237380964C>T | CA351215550 | COL6A3 | c.1230G>A (p.Met410Ile) c.1848G>A (p.Met616Ile) c.627G>A (p.Met209Ile) c.92-3620G>A (n.92-3620G>A) | dbSNP gnomAD v4 |
2 | g.237380965A>C | CA351215554 | COL6A3 | c.1229T>G (p.Met410Arg) c.1847T>G (p.Met616Arg) c.626T>G (p.Met209Arg) c.92-3621T>G (n.92-3621T>G) | |
2 | g.237380965A>G | CA351215560 | COL6A3 | c.1229T>C (p.Met410Thr) c.1847T>C (p.Met616Thr) c.626T>C (p.Met209Thr) c.92-3621T>C (n.92-3621T>C) | |
2 | g.237380965A>T | CA351215556 | COL6A3 | c.1229T>A (p.Met410Lys) c.1847T>A (p.Met616Lys) c.626T>A (p.Met209Lys) c.92-3621T>A (n.92-3621T>A) | |
2 | g.237380966T>A | CA351215562 | COL6A3 | c.1228A>T (p.Met410Leu) c.1846A>T (p.Met616Leu) c.625A>T (p.Met209Leu) c.92-3622A>T (n.92-3622A>T) | gnomAD v4 |
2 | g.237380966T>C | CA10606203 | COL6A3 | c.1228A>G (p.Met410Val) c.1846A>G (p.Met616Val) c.625A>G (p.Met209Val) c.92-3622A>G (n.92-3622A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380966T>G | CA351215565 | COL6A3 | c.1228A>C (p.Met410Leu) c.1846A>C (p.Met616Leu) c.625A>C (p.Met209Leu) c.92-3622A>C (n.92-3622A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237380966T= | CA1337627207 | COL6A3 | c.1228A= (p.Met410=) c.1846A= (p.Met616=) c.625A= (p.Met209=) c.92-3622A= (n.92-3622A=) | |
2 | g.237380967G>A | CA431674694 | COL6A3 | c.1227C>T (p.Gly409=) c.1845C>T (p.Gly615=) c.624C>T (p.Gly208=) c.92-3623C>T (n.92-3623C>T) | |
2 | g.237380967G>C | CA431674695 | COL6A3 | c.1227C>G (p.Gly409=) c.1845C>G (p.Gly615=) c.624C>G (p.Gly208=) c.92-3623C>G (n.92-3623C>G) | |
2 | g.237380967G>T | CA431674696 | COL6A3 | c.1227C>A (p.Gly409=) c.1845C>A (p.Gly615=) c.624C>A (p.Gly208=) c.92-3623C>A (n.92-3623C>A) | gnomAD v4 |
2 | g.237380968C>A | CA351215567 | COL6A3 | c.1226G>T (p.Gly409Val) c.1844G>T (p.Gly615Val) c.623G>T (p.Gly208Val) c.92-3624G>T (n.92-3624G>T) | gnomAD v4 |
2 | g.237380968C= | CA1337627208 | COL6A3 | c.1226G= (p.Gly409=) c.1844G= (p.Gly615=) c.623G= (p.Gly208=) c.92-3624G= (n.92-3624G=) | |
2 | g.237380968C>G | CA2189543 | COL6A3 | c.1226G>C (p.Gly409Ala) c.1844G>C (p.Gly615Ala) c.623G>C (p.Gly208Ala) c.92-3624G>C (n.92-3624G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380968C>T | CA351215572 | COL6A3 | c.1226G>A (p.Gly409Asp) c.1844G>A (p.Gly615Asp) c.623G>A (p.Gly208Asp) c.92-3624G>A (n.92-3624G>A) | dbSNP gnomAD v4 |
2 | g.237380969C>A | CA351215576 | COL6A3 | c.1225G>T (p.Gly409Cys) c.1843G>T (p.Gly615Cys) c.622G>T (p.Gly208Cys) c.92-3625G>T (n.92-3625G>T) | COSMIC COSMIC |
2 | g.237380969C>G | CA351215578 | COL6A3 | c.1225G>C (p.Gly409Arg) c.1843G>C (p.Gly615Arg) c.622G>C (p.Gly208Arg) c.92-3625G>C (n.92-3625G>C) | |
2 | g.237380969C>T | CA351215581 | COL6A3 | c.1225G>A (p.Gly409Ser) c.1843G>A (p.Gly615Ser) c.622G>A (p.Gly208Ser) c.92-3625G>A (n.92-3625G>A) | |
2 | g.237380970T>A | CA351215599 | COL6A3 | c.1224A>T (p.Gln408His) c.1842A>T (p.Gln614His) c.621A>T (p.Gln207His) c.92-3626A>T (n.92-3626A>T) | |
2 | g.237380970T>C | CA431674697 | COL6A3 | c.1224A>G (p.Gln408=) c.1842A>G (p.Gln614=) c.621A>G (p.Gln207=) c.92-3626A>G (n.92-3626A>G) | dbSNP |
2 | g.237380970T>G | CA351215584 | COL6A3 | c.1224A>C (p.Gln408His) c.1842A>C (p.Gln614His) c.621A>C (p.Gln207His) c.92-3626A>C (n.92-3626A>C) | |
2 | g.237380971T>A | CA351215603 | COL6A3 | c.1223A>T (p.Gln408Leu) c.1841A>T (p.Gln614Leu) c.620A>T (p.Gln207Leu) c.92-3627A>T (n.92-3627A>T) | |
2 | g.237380971T>C | CA351215606 | COL6A3 | c.1223A>G (p.Gln408Arg) c.1841A>G (p.Gln614Arg) c.620A>G (p.Gln207Arg) c.92-3627A>G (n.92-3627A>G) | gnomAD v4 |
2 | g.237380971T>G | CA351215610 | COL6A3 | c.1223A>C (p.Gln408Pro) c.1841A>C (p.Gln614Pro) c.620A>C (p.Gln207Pro) c.92-3627A>C (n.92-3627A>C) | |
2 | g.237380972G>A | CA351215616 | COL6A3 | c.1222C>T (p.Gln408Ter) c.1840C>T (p.Gln614Ter) c.619C>T (p.Gln207Ter) c.92-3628C>T (n.92-3628C>T) | ClinVar dbSNP |
2 | g.237380972G>C | CA351215617 | COL6A3 | c.1222C>G (p.Gln408Glu) c.1840C>G (p.Gln614Glu) c.619C>G (p.Gln207Glu) c.92-3628C>G (n.92-3628C>G) | |
2 | g.237380972G= | CA1337627209 | COL6A3 | c.1222C= (p.Gln408=) c.1840C= (p.Gln614=) c.619C= (p.Gln207=) c.92-3628C= (n.92-3628C=) | |
2 | g.237380972G>T | CA351215624 | COL6A3 | c.1222C>A (p.Gln408Lys) c.1840C>A (p.Gln614Lys) c.619C>A (p.Gln207Lys) c.92-3628C>A (n.92-3628C>A) | |
2 | g.237380973C>A | CA351215630 | COL6A3 | c.1221G>T (p.Leu407Phe) c.1839G>T (p.Leu613Phe) c.618G>T (p.Leu206Phe) c.92-3629G>T (n.92-3629G>T) | ClinVar gnomAD v4 |
2 | g.237380973C= | CA1337627210 | COL6A3 | c.1221G= (p.Leu407=) c.1839G= (p.Leu613=) c.618G= (p.Leu206=) c.92-3629G= (n.92-3629G=) | |
2 | g.237380973C>G | CA351215626 | COL6A3 | c.1221G>C (p.Leu407Phe) c.1839G>C (p.Leu613Phe) c.618G>C (p.Leu206Phe) c.92-3629G>C (n.92-3629G>C) | |
2 | g.237380973C>T | CA67828112 | COL6A3 | c.1221G>A (p.Leu407=) c.1839G>A (p.Leu613=) c.618G>A (p.Leu206=) c.92-3629G>A (n.92-3629G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.237380974A= | CA1337627211 | COL6A3 | c.1220T= (p.Leu407=) c.1838T= (p.Leu613=) c.617T= (p.Leu206=) c.92-3630T= (n.92-3630T=) | |
2 | g.237380974A>C | CA351215633 | COL6A3 | c.1220T>G (p.Leu407Trp) c.1838T>G (p.Leu613Trp) c.617T>G (p.Leu206Trp) c.92-3630T>G (n.92-3630T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380974A>G | CA351215635 | COL6A3 | c.1220T>C (p.Leu407Ser) c.1838T>C (p.Leu613Ser) c.617T>C (p.Leu206Ser) c.92-3630T>C (n.92-3630T>C) | |
2 | g.237380974A>T | CA351215638 | COL6A3 | c.1220T>A (p.Leu407Ter) c.1838T>A (p.Leu613Ter) c.617T>A (p.Leu206Ter) c.92-3630T>A (n.92-3630T>A) | |
2 | g.237380975A>C | CA351215641 | COL6A3 | c.1219T>G (p.Leu407Val) c.1837T>G (p.Leu613Val) c.616T>G (p.Leu206Val) c.92-3631T>G (n.92-3631T>G) | |
2 | g.237380975A>G | CA431674698 | COL6A3 | c.1219T>C (p.Leu407=) c.1837T>C (p.Leu613=) c.616T>C (p.Leu206=) c.92-3631T>C (n.92-3631T>C) | gnomAD v4 |
2 | g.237380975A>T | CA351215642 | COL6A3 | c.1219T>A (p.Leu407Met) c.1837T>A (p.Leu613Met) c.616T>A (p.Leu206Met) c.92-3631T>A (n.92-3631T>A) | |
2 | g.237380976T>A | CA431674699 | COL6A3 | c.1218A>T (p.Pro406=) c.1836A>T (p.Pro612=) c.615A>T (p.Pro205=) c.92-3632A>T (n.92-3632A>T) | |
2 | g.237380976T>C | CA431674700 | COL6A3 | c.1218A>G (p.Pro406=) c.1836A>G (p.Pro612=) c.615A>G (p.Pro205=) c.92-3632A>G (n.92-3632A>G) | dbSNP gnomAD v4 |
2 | g.237380976T>G | CA431674701 | COL6A3 | c.1218A>C (p.Pro406=) c.1836A>C (p.Pro612=) c.615A>C (p.Pro205=) c.92-3632A>C (n.92-3632A>C) | |
2 | g.237380976T= | CA1337627212 | COL6A3 | c.1218A= (p.Pro406=) c.1836A= (p.Pro612=) c.615A= (p.Pro205=) c.92-3632A= (n.92-3632A=) |