NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
COL1A2, EX26DEL
|
|
|
COL1A2, EX6DEL
|
|
|
COL1A2, GLY976ASP
|
|
|
NC_000007.13:g.94035075_94047591dup
|
|
|
NM_000089.4(COL1A2):c.1035_1035+2del
|
rs869254878
|
|
NM_000089.4(COL1A2):c.1099G>T (p.Gly367Trp)
|
rs72656402
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
NM_000089.4(COL1A2):c.1262G>A (p.Gly421Asp)
|
rs267606741
|
|
NM_000089.4(COL1A2):c.1404+1G>C
|
rs67162110
|
|
NM_000089.4(COL1A2):c.1414G>T (p.Gly472Cys)
|
rs121912906
|
|
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)
|
rs121912910
|
|
NM_000089.4(COL1A2):c.1557+3A>G
|
rs72658127
|
|
NM_000089.4(COL1A2):c.1612-2A>G
|
rs1799871
|
|
NM_000089.4(COL1A2):c.1640G>A (p.Gly547Asp)
|
rs121912901
|
|
NM_000089.4(COL1A2):c.1739G>A (p.Gly580Asp)
|
rs121912909
|
|
NM_000089.4(COL1A2):c.1757G>T (p.Gly586Val)
|
rs121912907
|
|
NM_000089.4(COL1A2):c.1936G>T (p.Gly646Cys)
|
rs121912903
|
|
NM_000089.4(COL1A2):c.1973_2025+1del
|
rs2115924259
|
|
NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser)
|
rs72658152
|
|
NM_000089.4(COL1A2):c.2025+334_2565+183del
|
|
|
NM_000089.4(COL1A2):c.2025+5G>A
|
rs72658157
|
|
NM_000089.4(COL1A2):c.2080G>C (p.Gly694Arg)
|
rs121912908
|
|
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
|
rs72658176
|
|
NM_000089.4(COL1A2):c.226-1G>C
|
rs66820119
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.2414G>A (p.Gly805Asp)
|
rs121912904
|
|
NM_000089.4(COL1A2):c.2575G>A (p.Gly859Ser)
|
rs72658200
|
|
NM_000089.4(COL1A2):c.2593G>A (p.Gly865Ser)
|
rs121912902
|
|
NM_000089.4(COL1A2):c.2720G>A (p.Gly907Asp)
|
rs121912900
|
|
NM_000089.4(COL1A2):c.279+1G>A
|
rs67398234
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer)
|
rs797044459
|
|
NM_000089.4(COL1A2):c.3017G>C (p.Gly1006Ala)
|
rs121912911
|
|
NM_000089.4(COL1A2):c.3034G>C (p.Gly1012Arg)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3105+2T>C
|
rs72659324
|
|
NM_000089.4(COL1A2):c.324+4del
|
rs1791756559
|
|
NM_000089.4(COL1A2):c.3269G>A (p.Gly1090Asp)
|
rs267606742
|
|
NM_000089.4(COL1A2):c.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3279_3287del (p.1091PPG[3])
|
rs74315103
|
|
NM_000089.4(COL1A2):c.3295G>A (p.Gly1099Arg)
|
rs72659338
|
|
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter)
|
rs72659343
|
|
NM_000089.4(COL1A2):c.4001_4004del (p.Asn1334fs)
|
rs72659345
|
|
NM_000089.4(COL1A2):c.432+3_432+13del
|
rs72656362
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
NM_000089.4(COL1A2):c.487-4_501del
|
rs74315146
|
|
NM_000089.4(COL1A2):c.540+5G>A
|
rs72656367
|
|
NM_000089.4(COL1A2):c.70+717A>G
|
rs72656354
|
|
NM_000089.4(COL1A2):c.775G>T (p.Gly259Cys)
|
rs121912905
|
|