NM_000320.3(QDPR):c.*510C>T
|
rs1031327
|
0.64808
|
NM_000320.3(QDPR):c.*468A>C
|
rs699460
|
0.64794
|
NM_000320.3(QDPR):c.*220T>C
|
rs1049581
|
0.64638
|
NM_000320.3(QDPR):c.*221G>A
|
rs1049582
|
0.64635
|
NM_000320.3(QDPR):c.*690A>G
|
rs1031326
|
0.61178
|
NM_000320.3(QDPR):c.396G>A (p.Leu132=)
|
rs2597775
|
0.28406
|
NM_000320.3(QDPR):c.*622T>C
|
rs10604
|
0.28366
|
NM_000320.3(QDPR):c.*403A>G
|
rs1049600
|
0.10881
|
NM_000320.3(QDPR):c.*408C>T
|
rs1049601
|
0.10880
|
NM_000320.3(QDPR):c.345G>A (p.Ser115=)
|
rs3733570
|
0.06567
|
NM_000320.3(QDPR):c.255C>T (p.Cys85=)
|
rs12645938
|
0.03464
|
NM_000320.3(QDPR):c.436+19A>G
|
rs112111831
|
0.00851
|
NM_000320.3(QDPR):c.*568T>G
|
rs560933456
|
0.00230
|
NM_000320.3(QDPR):c.630-17T>C
|
rs201581320
|
0.00193
|
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg)
|
rs112242659
|
0.00063
|
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr)
|
rs143937910
|
0.00047
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
NM_000320.3(QDPR):c.*103C>T
|
rs117036858
|
0.00029
|
NM_000320.3(QDPR):c.545+12G>A
|
rs372540886
|
0.00029
|
NM_000320.3(QDPR):c.*612T>C
|
rs776067259
|
0.00026
|
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly)
|
rs138542030
|
0.00014
|
NM_000320.3(QDPR):c.436+17C>G
|
rs765346239
|
0.00014
|
NM_000320.3(QDPR):c.*329T>G
|
rs886059238
|
0.00013
|
NM_000320.3(QDPR):c.*31C>T
|
rs377243912
|
0.00010
|
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)
|
rs147257284
|
0.00010
|
NM_000320.3(QDPR):c.273C>T (p.Ala91=)
|
rs181584528
|
0.00009
|
NM_000320.3(QDPR):c.*278G>A
|
rs765235173
|
0.00008
|
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg)
|
rs757963200
|
0.00007
|
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu)
|
rs374458448
|
0.00007
|
NM_000320.3(QDPR):c.199-10T>G
|
rs200393206
|
0.00006
|
NM_000320.3(QDPR):c.519C>T (p.Pro173=)
|
rs368614041
|
0.00006
|
NM_000320.3(QDPR):c.621C>T (p.Phe207=)
|
rs200518175
|
0.00006
|
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)
|
rs565356844
|
0.00005
|
NM_000320.3(QDPR):c.408C>T (p.Gly136=)
|
rs3733569
|
0.00004
|
NM_000320.3(QDPR):c.436+16C>T
|
rs187812666
|
0.00004
|
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys)
|
rs767223209
|
0.00004
|
NM_000320.3(QDPR):c.629+18G>A
|
rs758057470
|
0.00004
|
NM_000320.3(QDPR):c.630-20A>C
|
rs769294923
|
0.00004
|
NM_000320.3(QDPR):c.118G>A (p.Val40Ile)
|
rs769586091
|
0.00003
|
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu)
|
rs201345615
|
0.00003
|
NM_000320.3(QDPR):c.359A>G (p.His120Arg)
|
rs148369556
|
0.00003
|
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr)
|
rs778631854
|
0.00003
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn)
|
rs187958701
|
0.00002
|
NM_000320.3(QDPR):c.534C>T (p.Ile178=)
|
rs767857309
|
0.00002
|
NM_000320.3(QDPR):c.624A>G (p.Leu208=)
|
rs757533596
|
0.00002
|
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg)
|
rs987746060
|
0.00001
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly)
|
rs1353342221
|
0.00001
|
NM_000320.3(QDPR):c.157A>G (p.Ile53Val)
|
rs550966415
|
0.00001
|
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn)
|
rs1172704301
|
0.00001
|
NM_000320.3(QDPR):c.186G>A (p.Glu62=)
|
rs771557010
|
0.00001
|
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg)
|
rs1371078094
|
0.00001
|
NM_000320.3(QDPR):c.296-18C>T
|
rs770021666
|
0.00001
|
NM_000320.3(QDPR):c.296-7C>T
|
rs376187471
|
0.00001
|
NM_000320.3(QDPR):c.318G>A (p.Leu106=)
|
rs766832692
|
0.00001
|
NM_000320.3(QDPR):c.334A>G (p.Ile112Val)
|
rs112686538
|
0.00001
|
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)
|
rs1407920390
|
0.00001
|
NM_000320.3(QDPR):c.400T>C (p.Leu134=)
|
rs775048498
|
0.00001
|
NM_000320.3(QDPR):c.423G>A (p.Leu141=)
|
rs1553875093
|
0.00001
|
NM_000320.3(QDPR):c.436+5G>C
|
rs764651358
|
0.00001
|
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala)
|
rs144673363
|
0.00001
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
NM_000320.3(QDPR):c.490C>G (p.Leu164Val)
|
rs774366700
|
0.00001
|
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg)
|
rs768729528
|
0.00001
|
NM_000320.3(QDPR):c.507C>T (p.Ser169=)
|
rs774932503
|
0.00001
|
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser)
|
rs769460415
|
0.00001
|
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala)
|
rs1219263968
|
0.00001
|
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg)
|
rs755535883
|
0.00001
|
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr)
|
rs761644688
|
0.00001
|
NM_000320.3(QDPR):c.545+14G>T
|
rs775046749
|
0.00001
|
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu)
|
rs1364780551
|
0.00001
|
NM_000320.3(QDPR):c.546-2A>G
|
rs1577184852
|
0.00001
|
NM_000320.3(QDPR):c.546-9C>A
|
rs764033550
|
0.00001
|
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr)
|
rs777797545
|
0.00001
|
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter)
|
rs778806991
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NC_000004.11:g.(17506099_17510893)_(17513858_?)del
|
|
|
NC_000004.11:g.(?_17488754)_(17513677_?)del
|
|
|
NC_000004.11:g.(?_17488754)_(17513677_?)dup
|
|
|
NC_000004.11:g.(?_17510874)_(17513677_?)del
|
|
|
NC_000004.11:g.(?_17513553)_(17513677_?)dup
|
|
|
NM_000320.3(QDPR):c.*187A>C
|
rs1717979575
|
|
NM_000320.3(QDPR):c.*277T>C
|
rs1717973938
|
|
NM_000320.3(QDPR):c.*374G>C
|
rs1717970851
|
|
NM_000320.3(QDPR):c.*450T>A
|
rs886059237
|
|
NM_000320.3(QDPR):c.*46C>A
|
rs567249048
|
|
NM_000320.3(QDPR):c.*682A>G
|
rs699459
|
|
NM_000320.3(QDPR):c.106-12T>C
|
|
|
NM_000320.3(QDPR):c.106-19del
|
rs1303595690
|
|
NM_000320.3(QDPR):c.106-1G>C
|
rs1428018512
|
|
NM_000320.3(QDPR):c.106-20A>C
|
|
|
NM_000320.3(QDPR):c.106-6T>C
|
|
|
NM_000320.3(QDPR):c.106-8C>T
|
|
|
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg)
|
rs104893865
|
|
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly)
|
|
|
NM_000320.3(QDPR):c.117C>T (p.Ser39=)
|
|
|
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr)
|
|
|
NM_000320.3(QDPR):c.123T>C (p.Asp41=)
|
|
|
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
|
|
|
NM_000320.3(QDPR):c.132G>A (p.Glu44=)
|
|
|
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
|
|
|
NM_000320.3(QDPR):c.144C>T (p.Ala48=)
|
|
|
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg)
|
rs2108997310
|
|
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu)
|
|
|
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala)
|
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.177G>A (p.Ser59=)
|
|
|
NM_000320.3(QDPR):c.189G>A (p.Gln63=)
|
|
|
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser)
|
rs1480794443
|
|
NM_000320.3(QDPR):c.192T>C (p.Ala64=)
|
|
|
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
|
|
|
NM_000320.3(QDPR):c.198+13A>T
|
|
|
NM_000320.3(QDPR):c.198+15G>A
|
|
|
NM_000320.3(QDPR):c.198+17C>T
|
|
|
NM_000320.3(QDPR):c.198+18C>G
|
|
|
NM_000320.3(QDPR):c.198+19C>A
|
|
|
NM_000320.3(QDPR):c.198+1G>A
|
rs2108997263
|
|
NM_000320.3(QDPR):c.199-15G>A
|
|
|
NM_000320.3(QDPR):c.199-16dup
|
rs1277522602
|
|
NM_000320.3(QDPR):c.199-18T>A
|
|
|
NM_000320.3(QDPR):c.199-7G>A
|
|
|
NM_000320.3(QDPR):c.201G>C (p.Val67=)
|
|
|
NM_000320.3(QDPR):c.201G>T (p.Val67=)
|
|
|
NM_000320.3(QDPR):c.204T>C (p.Thr68=)
|
|
|
NM_000320.3(QDPR):c.210G>A (p.Glu70=)
|
|
|
NM_000320.3(QDPR):c.219G>A (p.Lys73=)
|
|
|
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp)
|
rs2108994422
|
|
NM_000320.3(QDPR):c.240G>A (p.Val80=)
|
|
|
NM_000320.3(QDPR):c.246A>C (p.Ala82=)
|
|
|
NM_000320.3(QDPR):c.256G>A (p.Val86Ile)
|
rs186929388
|
|
NM_000320.3(QDPR):c.261T>C (p.Ala87=)
|
|
|
NM_000320.3(QDPR):c.264A>C (p.Gly88=)
|
|
|
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg)
|
rs1184906056
|
|
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter)
|
rs104893867
|
|
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr)
|
rs147257284
|
|
NM_000320.3(QDPR):c.278del (p.Gly93fs)
|
|
|
NM_000320.3(QDPR):c.279C>T (p.Gly93=)
|
|
|
NM_000320.3(QDPR):c.285C>G (p.Ala95=)
|
|
|
NM_000320.3(QDPR):c.295+19C>T
|
|
|
NM_000320.3(QDPR):c.296-14T>C
|
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
NM_000320.3(QDPR):c.296-17A>G
|
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
NM_000320.3(QDPR):c.308A>G (p.Asn103Ser)
|
rs1248495029
|
|
NM_000320.3(QDPR):c.309C>T (p.Asn103=)
|
|
|
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr)
|
rs2108993051
|
|
NM_000320.3(QDPR):c.312T>C (p.Cys104=)
|
|
|
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly)
|
rs104893864
|
|
NM_000320.3(QDPR):c.327G>A (p.Lys109=)
|
|
|
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
|
|
|
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly)
|
rs1404740384
|
|
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
|
|
|
NM_000320.3(QDPR):c.342A>G (p.Thr114=)
|
|
|
NM_000320.3(QDPR):c.345G>T (p.Ser115=)
|
|
|
NM_000320.3(QDPR):c.348C>T (p.Thr116=)
|
|
|
NM_000320.3(QDPR):c.351C>T (p.Ile117=)
|
|
|
NM_000320.3(QDPR):c.354C>T (p.Ser118=)
|
|
|
NM_000320.3(QDPR):c.361C>T (p.Leu121=)
|
|
|
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp)
|
rs1553875105
|
|
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup)
|
rs2108993008
|
|
NM_000320.3(QDPR):c.374A>G (p.His125Arg)
|
rs201283946
|
|
NM_000320.3(QDPR):c.378C>A (p.Leu126=)
|
rs2108992993
|
|
NM_000320.3(QDPR):c.383_407del (p.Glu128fs)
|
rs2108992958
|
|
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
|
|
|
NM_000320.3(QDPR):c.390C>A (p.Gly130=)
|
|
|
NM_000320.3(QDPR):c.393C>T (p.Leu131=)
|
|
|
NM_000320.3(QDPR):c.399C>G (p.Thr133=)
|
rs1331138236
|
|
NM_000320.3(QDPR):c.412A>C (p.Lys138Gln)
|
rs2108992947
|
|
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro)
|
rs779606633
|
|
NM_000320.3(QDPR):c.419C>A (p.Ala140Asp)
|
|
|
NM_000320.3(QDPR):c.420C>G (p.Ala140=)
|
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000320.3(QDPR):c.436+11A>G
|
rs1718566849
|
|
NM_000320.3(QDPR):c.436+19A>C
|
|
|
NM_000320.3(QDPR):c.437-10C>G
|
|
|
NM_000320.3(QDPR):c.437-10C>T
|
|
|
NM_000320.3(QDPR):c.437-11C>G
|
|
|
NM_000320.3(QDPR):c.437-15C>G
|
|
|
NM_000320.3(QDPR):c.437-18C>T
|
|
|
NM_000320.3(QDPR):c.437-20A>G
|
|
|
NM_000320.3(QDPR):c.437-429A>G
|
rs2108987974
|
|
NM_000320.3(QDPR):c.437-5C>A
|
|
|
NM_000320.3(QDPR):c.437-5C>T
|
rs2108987742
|
|
NM_000320.3(QDPR):c.437-6T>A
|
rs886059239
|
|
NM_000320.3(QDPR):c.437-9A>G
|
|
|
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg)
|
rs1028029163
|
|
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
|
|
|
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys)
|
rs104893866
|
|
NM_000320.3(QDPR):c.468T>C (p.Ala156=)
|
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
|
NM_000320.3(QDPR):c.474C>T (p.His158=)
|
|
|
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)
|
|
|
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
|
|
|
NM_000320.3(QDPR):c.486G>C (p.Gln162His)
|
rs761732291
|
|
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn)
|
rs2108987681
|
|
NM_000320.3(QDPR):c.504C>T (p.Asn168=)
|
|
|
NM_000320.3(QDPR):c.510C>T (p.Gly170=)
|
|
|
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
|
|
|
NM_000320.3(QDPR):c.516G>A (p.Pro172=)
|
rs549416247
|
|
NM_000320.3(QDPR):c.516G>C (p.Pro172=)
|
rs549416247
|
|
NM_000320.3(QDPR):c.516G>T (p.Pro172=)
|
|
|
NM_000320.3(QDPR):c.516del (p.Ala175fs)
|
|
|
NM_000320.3(QDPR):c.519C>G (p.Pro173=)
|
|
|
NM_000320.3(QDPR):c.523del (p.Ala175fs)
|
|
|
NM_000320.3(QDPR):c.528C>T (p.Ala176=)
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NM_000320.3(QDPR):c.531C>A (p.Ala177=)
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NM_000320.3(QDPR):c.531C>T (p.Ala177=)
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NM_000320.3(QDPR):c.545+14G>A
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NM_000320.3(QDPR):c.545+18C>T
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NM_000320.3(QDPR):c.545+19C>T
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|
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NM_000320.3(QDPR):c.545+2dup
|
rs1718190006
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NM_000320.3(QDPR):c.545+8C>G
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NM_000320.3(QDPR):c.545+9T>C
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NM_000320.3(QDPR):c.545C>G (p.Pro182Arg)
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NM_000320.3(QDPR):c.546-11G>A
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NM_000320.3(QDPR):c.546-1G>A
|
rs995264302
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NM_000320.3(QDPR):c.546-20C>G
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rs2108986777
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NM_000320.3(QDPR):c.546-7A>G
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NM_000320.3(QDPR):c.546G>A (p.Pro182=)
|
rs1176312266
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NM_000320.3(QDPR):c.553C>T (p.Leu185=)
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|
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NM_000320.3(QDPR):c.556G>C (p.Asp186His)
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NM_000320.3(QDPR):c.558T>C (p.Asp186=)
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NM_000320.3(QDPR):c.560C>A (p.Thr187Asn)
|
rs2108986735
|
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NM_000320.3(QDPR):c.561C>T (p.Thr187=)
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NM_000320.3(QDPR):c.564G>A (p.Pro188=)
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NM_000320.3(QDPR):c.576A>G (p.Lys192=)
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NM_000320.3(QDPR):c.576del (p.Lys192fs)
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|
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NM_000320.3(QDPR):c.578C>T (p.Ser193Leu)
|
rs2108986715
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NM_000320.3(QDPR):c.580A>G (p.Met194Val)
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|
|
NM_000320.3(QDPR):c.603C>T (p.Ser201=)
|
rs891408281
|
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NM_000320.3(QDPR):c.609dup (p.Pro204fs)
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NM_000320.3(QDPR):c.612C>T (p.Pro204=)
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NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)
|
rs1362475419
|
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NM_000320.3(QDPR):c.618A>G (p.Glu206=)
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NM_000320.3(QDPR):c.629+11_629+12del
|
|
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NM_000320.3(QDPR):c.629+16A>G
|
|
|
NM_000320.3(QDPR):c.629+17T>C
|
rs2108986649
|
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NM_000320.3(QDPR):c.629+2T>C
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|
|
NM_000320.3(QDPR):c.629+9T>C
|
rs113400069
|
|
NM_000320.3(QDPR):c.630-14A>G
|
|
|
NM_000320.3(QDPR):c.630-15T>C
|
rs781122232
|
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NM_000320.3(QDPR):c.630-19C>A
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NM_000320.3(QDPR):c.630-20A>T
|
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|
NM_000320.3(QDPR):c.630-20del
|
rs746771741
|
|
NM_000320.3(QDPR):c.630-20dup
|
|
|
NM_000320.3(QDPR):c.630-23_630-20del
|
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NM_000320.3(QDPR):c.630-4C>A
|
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|
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
|
|
|
NM_000320.3(QDPR):c.636C>T (p.Phe212=)
|
rs751389453
|
|
NM_000320.3(QDPR):c.639T>C (p.His213=)
|
|
|
NM_000320.3(QDPR):c.642C>T (p.Asp214=)
|
|
|
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)
|
rs757385912
|
|
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln)
|
rs1478668973
|
|
NM_000320.3(QDPR):c.666G>A (p.Pro222=)
|
|
|
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)
|
|
|
NM_000320.3(QDPR):c.681A>C (p.Leu227=)
|
|
|
NM_000320.3(QDPR):c.689T>C (p.Val230Ala)
|
rs761568067
|
|
NM_000320.3(QDPR):c.711G>A (p.Thr237=)
|
|
|
NM_000320.3(QDPR):c.717C>T (p.Leu239=)
|
|
|
NM_000320.3(QDPR):c.720C>A (p.Thr240=)
|
|
|