NM_014208.3(DSPP):c.*17G>A
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rs2615489
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0.87779
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NM_014208.3(DSPP):c.897A>G (p.Ser299=)
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rs2736982
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0.65063
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NM_014208.3(DSPP):c.136-33T>C
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rs13131929
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0.44289
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NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)
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rs36094464
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0.14530
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NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu)
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rs959216315
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0.04723
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NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
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rs61731011
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0.00345
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NM_014208.3(DSPP):c.1847G>A (p.Ser616Asn)
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rs375994683
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0.00016
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NM_014208.3(DSPP):c.981G>T (p.Glu327Asp)
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rs778282028
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0.00004
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NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn)
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rs767387863
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0.00003
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NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs)
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rs1553904404
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0.00003
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NM_014208.3(DSPP):c.2525del (p.Ser842fs)
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rs1395922945
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0.00002
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NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser)
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rs72651645
|
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NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
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rs67707918
|
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NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
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rs66883877
|
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NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)
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rs72659332
|
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NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)
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rs121912985
|
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NM_014208.3(DSPP):c.135+1G>A
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rs1560477489
|
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NM_014208.3(DSPP):c.135+1G>C
|
|
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NM_014208.3(DSPP):c.135G>A (p.Gln45=)
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|
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NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
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|
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NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn)
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rs1727806052
|
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NM_014208.3(DSPP):c.1805del (p.Ser602fs)
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|
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NM_014208.3(DSPP):c.1874_1877del (p.Asp625fs)
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rs781361596
|
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NM_014208.3(DSPP):c.2317del (p.Ser773fs)
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|
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NM_014208.3(DSPP):c.2427del (p.Ser809fs)
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|
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NM_014208.3(DSPP):c.2833del (p.Ser945fs)
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|
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NM_014208.3(DSPP):c.2852del (p.Ser951fs)
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|
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NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg)
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rs535605955
|
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NM_014208.3(DSPP):c.3438del (p.Asp1146fs)
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rs1560480632
|
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NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp)
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rs1727933220
|
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NM_014208.3(DSPP):c.3538_3550del (p.Ser1180fs)
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|
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NM_014208.3(DSPP):c.3555del (p.Asp1185fs)
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|
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NM_014208.3(DSPP):c.3565_3566insCAGCAGCGATA (p.Ser1189fs)
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rs2109998972
|
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NM_014208.3(DSPP):c.3611del (p.Ser1204fs)
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rs2109999064
|
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NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)
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rs1727756750
|
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NM_014208.3(DSPP):c.3696_3699del (p.Asn1232fs)
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|
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NM_014208.3(DSPP):c.44C>T (p.Ala15Val)
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rs121912989
|
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NM_014208.3(DSPP):c.52-2del
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|
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NM_014208.3(DSPP):c.52G>T (p.Val18Phe)
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rs121912987
|
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NM_014208.3(DSPP):c.53T>A (p.Val18Asp)
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rs1727745724
|
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NM_014208.3(DSPP):c.53T>G (p.Val18Gly)
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rs1727745724
|
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