#14 | | Mild BM | |
#16 | α | Mild BM | |
#17 | α | Mild BM | |
#24 | | Mild BM | |
#2 | | Mild BM | |
#76 | | Mild BM | |
#10 | | Mild BM | |
#8 | | Mild BM | Heterozygous COL6A1 exon3 Ser116Asn |
#21 | | Mild BM | Heterozygous COL6A1 exon3 Ser116Asn |
#51 | | BM | Heterozygous COL6A1 exon3 Ser116Asn |
#25 | | BM | Heterozygous COL6A3 exon7 Lys1014Glu |
#55 | | BM | Heterozygous COL6A3 exon9 Glu1386Lys |
#30 | | BM | Heterozygous COL6A3 exon10 Asn1467Asp |
#75 | | BM | Heterozygous COL6A3 exon40 Ala2941Val |
#74 | | BM | Heterozygous COL6A1 exon26 Lys571Thr; heterozygous COL6A3 exon14 Val1985Met |
#7 | | BM | Heterozygous COL6A2 exon3 Glu106Lys |
#61 | | BM | Heterozygous COL6A2 exon3 Glu106Lys |
#56 | | BM | Heterozygous COL6A2 exon28 Arg853Gln |
#36 | | BM | Heterozygous COL6A1 exon14 Gly341Val |
#19 | | BM | Heterozygous COL6A3 exon11 Gly1679Glu |
#57 | | BM | |
#58 | | BM | |
#59 | | BM | |
#62 | | BM | |
#63 | | BM | |
#28 | β | BM | Heterozygous COL6A1 exon9 Pro274Leu; heterozygous COL6A3 exon15 Gly2047Asp |
#29 | β | BM | Heterozygous COL6A1 exon9 Pro274Leu; heterozygous COL6A3 exon15 Gly2047Asp |
#52 | | BM | |
#53 | | BM | |
#54 | | BM | |
#32 | | BM | Heterozygous COL6A1 intron13 splice acceptor change |
#71 | | BM | Heterozygous COL6A1 intron14 splice donor change |
#12 | γ | BM | Heterozygous COL6A1 intron14 splice donor change |
#13 | γ | BM | Heterozygous COL6A1 intron14 splice donor change |
#77 | | BM | Heterozygous COL6A1 intron14 splice donor change |
#18 | | BM | Heterozygous COL6A2 intron24 splice acceptor change |
#6 | | BM | Heterozygous COL6A2 intron25 splice acceptor change |
#33 | δ | BM | |
#34 | δ | BM | |
#70 | | BM | Heterozygous COL6A2 exon28 insertion leading to frameshift and PTC |
#20 | | BM | |
#11 | | BM | |
#3 | ε | BM | Heterozygous COL6A2 exon26 Gly700Ser |
#4 | ε | BM | Heterozygous COL6A2 exon26 Gly700Ser |
#9 | ε | Severe BM | Heterozygous COL6A2 exon26 Gly700Ser |
#31 | | Severe BM | |
#26 | | Severe BM | |
#64 | | Severe BM | Heterozygous COL6A3 intron15 splice donor change |
#69 | | Severe BM | |
#73 | | Severe BM | |
#66 | | severe BM | Heterozygous COL6A3 exon17Gly2080Asp |
#43 | | Severe BM | Heterozygous COL6A1 exon10 Gly290Arg; heterozygous COL6A3 exon6 Arg677His |
#5 | | Severe BM | Heterozygous COL6A1 exon10 Gly290Arg |
#47 | | UCMD | Heterozygous COL6A1 exon10 Gly290Arg |
#48 | | UCMD | Heterozygous COL6A1 exon10 Gly290Arg; heterozygous COL6A2 exon26 Arg784His |
#45 | | UCMD | Heterozygous COL6A1 exon9 Gly281Arg; heterozygous COL6A2 exon18 Arg498His |
#46 | | UCMD | Heterozygous COL6A1 exon9 Gly284Arg |
#41 | | UCMD | Heterozygous COL6A1 exon9 Gly284Arg |
#49 | | UCMD | Heterozygous COL6A2 exon6 Gly283Arg |
#79 | | UCMD | Heterozygous COL6A3 exon8 Arg1064Glu |
#15 | | UCMD | |
#72 | | UCMD | |
#44 | | UCMD | Homozygous COL6A2 exon26 Cys777Arg |
#38 | | UCMD | Homozygous COL6A2 exon20 Gly531Arg |
#65 | | UCMD | Homozygous COL6A2 exon28 Arg876Ser; heterozygous COL6A3 exon9 Arg1395Gln; |
| | | heterozygous COL6A3 exon11 Asp1674Asn |
#42 | | UCMD | Homozygous COL6A1 intron27splice donor change |
#22 | | UCMD | Homozygous COL6A3 exon27 change of nucleotide adjacent to splice donor |
#23 | | UCMD | Heterozygous COL6A2 exon3 insertion leading to frameshift and PTC; |
| | | heterozygous COL6A2 exon27 complex insertion/deletion involving splice donor |
#78 | | UCMD | Heterozygous COL6A2 exon26 Tyr 773 PTC; heterozygous COL6A2 intron26 splice acceptor change |
#37 | | UCMD | |
#50 | | UCMD | |
#60 | | UCMD | |
#67 | | UCMD | Heterozygous COL6A3 exon16 deletion involving splice acceptor |
#35 | | UCMD | Heterozygous COL6A3 intron16 splice donor change |
#39 | | UCMD | Heterozygous COL6A3 intron16 splice donor change |
#40 | | UCMD | Heterozygous COL6A3 intron16 splice donor change |
#68 | | UCMD | Heterozygous COL6A2 intron9 splice acceptor change |
#27 | | UCMD+short stature | |
#1 | | UCMD+short stature | |