NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)
|
rs140943202
|
0.00014
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=)
|
rs139343205
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu)
|
rs138259992
|
0.00004
|
NM_000093.5(COL5A1):c.1827+11C>T
|
rs374795810
|
0.00003
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr)
|
rs768269251
|
0.00001
|
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser)
|
rs1356081271
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro)
|
rs863223440
|
0.00001
|
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met)
|
rs758197769
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser)
|
rs759627305
|
|
NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala)
|
rs2132811634
|
|
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
|
|
|
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg)
|
rs1377049332
|
|
NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)
|
|
|
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
|
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=)
|
rs773853291
|
|
NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)
|
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup)
|
rs2132861348
|
|
NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu)
|
rs2132454969
|
|
NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)
|
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)
|
|
|