NM_017780.4(CHD7):c.2238+39G>A
|
rs4540437
|
0.83608
|
NM_017780.4(CHD7):c.2614-45A>G
|
rs6471902
|
0.79408
|
NM_017780.4(CHD7):c.4533+46A>G
|
rs7844902
|
0.77651
|
NM_017780.4(CHD7):c.2376+43_2376+48dup
|
rs5891777
|
0.76905
|
NM_017780.4(CHD7):c.1665+34G>A
|
rs7836586
|
0.76770
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
NM_017780.4(CHD7):c.3523-35C>G
|
rs41272442
|
0.06176
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
NM_017780.4(CHD7):c.2442+38A>T
|
rs41272438
|
0.02567
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
NM_017780.4(CHD7):c.2614-48C>G
|
rs79276682
|
0.01215
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
NM_017780.4(CHD7):c.3379-33A>G
|
rs45461501
|
0.00473
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)
|
rs148577619
|
0.00218
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
NM_017780.4(CHD7):c.4644+36C>T
|
rs71640287
|
0.00161
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
NM_017780.4(CHD7):c.5051-25A>G
|
rs185141793
|
0.00153
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
NM_017780.4(CHD7):c.6989G>C (p.Gly2330Ala)
|
rs77704609
|
0.00094
|
NM_017780.4(CHD7):c.6990C>T (p.Gly2330=)
|
rs559382275
|
0.00094
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
NM_017780.4(CHD7):c.2835+24A>T
|
rs201381395
|
0.00081
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln)
|
rs185505138
|
0.00030
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
NM_017780.4(CHD7):c.2697+30G>A
|
rs372108679
|
0.00026
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
|
rs201470035
|
0.00024
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
NM_017780.4(CHD7):c.1473C>T (p.Ile491=)
|
rs182294889
|
0.00019
|
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)
|
rs187751757
|
0.00019
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
NM_017780.4(CHD7):c.4851-31C>T
|
rs149348445
|
0.00013
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=)
|
rs372755547
|
0.00010
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=)
|
rs760166848
|
0.00009
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)
|
rs768184220
|
0.00008
|
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)
|
rs371633293
|
0.00008
|
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu)
|
rs3750308
|
0.00008
|
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)
|
rs372889781
|
0.00008
|
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=)
|
rs376063472
|
0.00007
|
NM_017780.4(CHD7):c.1410A>G (p.Glu470=)
|
rs368648424
|
0.00006
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
NM_017780.4(CHD7):c.381T>C (p.Pro127=)
|
rs373676882
|
0.00006
|
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=)
|
rs757952334
|
0.00006
|
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
|
rs368747227
|
0.00006
|
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
|
rs777303307
|
0.00006
|
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=)
|
rs749381782
|
0.00006
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=)
|
rs376993840
|
0.00005
|
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=)
|
rs757280832
|
0.00005
|
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=)
|
rs200792215
|
0.00005
|
NM_017780.4(CHD7):c.1029C>T (p.Ser343=)
|
rs570815501
|
0.00004
|
NM_017780.4(CHD7):c.2097-9G>C
|
rs759100071
|
0.00004
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)
|
rs183761594
|
0.00004
|
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)
|
rs745837768
|
0.00004
|
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)
|
rs777652245
|
0.00004
|
NM_017780.4(CHD7):c.5051-14G>T
|
rs766512334
|
0.00004
|
NM_017780.4(CHD7):c.5405-18C>T
|
rs199981784
|
0.00004
|
NM_017780.4(CHD7):c.5405-8C>T
|
rs755505152
|
0.00004
|
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=)
|
rs764844969
|
0.00004
|
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe)
|
rs753559567
|
0.00004
|
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln)
|
rs563360548
|
0.00004
|
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=)
|
rs764110898
|
0.00004
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=)
|
rs368038649
|
0.00004
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=)
|
rs1278636503
|
0.00003
|
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=)
|
rs529369619
|
0.00003
|
NM_017780.4(CHD7):c.6669C>T (p.Val2223=)
|
rs556577614
|
0.00003
|
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=)
|
rs746591351
|
0.00003
|
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)
|
rs370231679
|
0.00003
|
NM_017780.4(CHD7):c.2523A>G (p.Ala841=)
|
rs970128606
|
0.00002
|
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)
|
rs370194460
|
0.00002
|
NM_017780.4(CHD7):c.3989+7A>G
|
rs757622396
|
0.00002
|
NM_017780.4(CHD7):c.4629T>C (p.Asp1543=)
|
rs757379662
|
0.00002
|
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=)
|
rs777176819
|
0.00002
|
NM_017780.4(CHD7):c.561G>A (p.Gln187=)
|
rs181083503
|
0.00002
|
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu)
|
rs766862122
|
0.00002
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
NM_017780.4(CHD7):c.1622A>G (p.His541Arg)
|
rs1388338640
|
0.00001
|
NM_017780.4(CHD7):c.276C>T (p.Asn92=)
|
rs779967922
|
0.00001
|
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)
|
rs750785243
|
0.00001
|
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=)
|
rs201320784
|
0.00001
|
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=)
|
rs760088130
|
0.00001
|
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=)
|
rs1441410913
|
0.00001
|
NM_017780.4(CHD7):c.5067G>A (p.Val1689=)
|
rs912054705
|
0.00001
|
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=)
|
rs766759257
|
0.00001
|
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=)
|
rs752330796
|
0.00001
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)
|
rs374040699
|
0.00001
|
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala)
|
rs1805501956
|
0.00001
|
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln)
|
rs372077201
|
0.00001
|
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His)
|
rs1197494895
|
0.00001
|
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=)
|
rs886038635
|
0.00001
|
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys)
|
rs1227502557
|
0.00001
|
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val)
|
rs1047690374
|
0.00001
|
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln)
|
rs542880173
|
0.00001
|
NM_017780.4(CHD7):c.6937-8C>T
|
rs765520430
|
0.00001
|
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln)
|
rs534510177
|
0.00001
|
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=)
|
rs777847508
|
0.00001
|
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=)
|
rs749492213
|
0.00001
|
NM_017780.4(CHD7):c.733A>G (p.Met245Val)
|
rs768507639
|
0.00001
|
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln)
|
rs1064794649
|
0.00001
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=)
|
rs576905094
|
0.00001
|
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr)
|
rs935815422
|
0.00001
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
NM_017780.4(CHD7):c.8425G>A (p.Val2809Met)
|
rs763048936
|
0.00001
|
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)
|
rs763572916
|
0.00001
|
NM_017780.4(CHD7):c.*6_*17del
|
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
|
|
|
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
|
|
|
NM_017780.4(CHD7):c.1318C>T (p.Pro440Ser)
|
|
|
NM_017780.4(CHD7):c.1363A>G (p.Met455Val)
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1598A>G (p.His533Arg)
|
|
|
NM_017780.4(CHD7):c.165T>C (p.His55=)
|
|
|
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del)
|
rs748363597
|
|
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn)
|
rs776372236
|
|
NM_017780.4(CHD7):c.2614-25_2614-4del
|
rs886038633
|
|
NM_017780.4(CHD7):c.2682A>T (p.Thr894=)
|
|
|
NM_017780.4(CHD7):c.2922G>A (p.Glu974=)
|
|
|
NM_017780.4(CHD7):c.2958-3A>G
|
|
|
NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs)
|
|
|
NM_017780.4(CHD7):c.3205C>G (p.Arg1069Gly)
|
|
|
NM_017780.4(CHD7):c.3249A>G (p.Thr1083=)
|
|
|
NM_017780.4(CHD7):c.3285del (p.Asn1096fs)
|
|
|
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)
|
rs1554598013
|
|
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs)
|
rs2150761158
|
|
NM_017780.4(CHD7):c.3482_3483del (p.Thr1161fs)
|
|
|
NM_017780.4(CHD7):c.3597C>T (p.Ala1199=)
|
|
|
NM_017780.4(CHD7):c.3779-10A>T
|
|
|
NM_017780.4(CHD7):c.3819_3820del (p.His1273fs)
|
|
|
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
|
|
|
NM_017780.4(CHD7):c.3990-2A>C
|
|
|
NM_017780.4(CHD7):c.3990-8T>C
|
|
|
NM_017780.4(CHD7):c.4213C>T (p.Gln1405Ter)
|
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys)
|
rs2150779357
|
|
NM_017780.4(CHD7):c.4455A>G (p.Glu1485=)
|
|
|
NM_017780.4(CHD7):c.4889A>G (p.Tyr1630Cys)
|
|
|
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)
|
rs886040978
|
|
NM_017780.4(CHD7):c.5076A>G (p.Gly1692=)
|
|
|
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
|
|
|
NM_017780.4(CHD7):c.5190C>T (p.His1730=)
|
|
|
NM_017780.4(CHD7):c.5210+25del
|
rs137901533
|
|
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
|
|
|
NM_017780.4(CHD7):c.5287G>A (p.Gly1763Ser)
|
|
|
NM_017780.4(CHD7):c.5313G>A (p.Val1771=)
|
|
|
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=)
|
rs559748498
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5446T>C (p.Cys1816Arg)
|
|
|
NM_017780.4(CHD7):c.5501G>C (p.Arg1834Thr)
|
|
|
NM_017780.4(CHD7):c.5563C>T (p.Pro1855Ser)
|
|
|
NM_017780.4(CHD7):c.5607+30G>T
|
rs551954486
|
|
NM_017780.4(CHD7):c.5608-7T>G
|
|
|
NM_017780.4(CHD7):c.5665+1G>A
|
|
|
NM_017780.4(CHD7):c.586G>A (p.Gly196Arg)
|
|
|
NM_017780.4(CHD7):c.5894+32C>G
|
rs41265252
|
|
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)
|
rs1554581277
|
|
NM_017780.4(CHD7):c.6103+2T>C
|
|
|
NM_017780.4(CHD7):c.6401A>G (p.Asn2134Ser)
|
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
NM_017780.4(CHD7):c.6629del (p.Glu2210fs)
|
|
|
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
|
rs1805568530
|
|
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
|
|
|
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
|
|
|
NM_017780.4(CHD7):c.6809A>G (p.Glu2270Gly)
|
|
|
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
|
|
|
NM_017780.4(CHD7):c.6923C>A (p.Ser2308Ter)
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.701A>G (p.His234Arg)
|
|
|
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
|
rs754527047
|
|
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
|
rs541818422
|
|
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys)
|
|
|
NM_017780.4(CHD7):c.7428T>C (p.Asp2476=)
|
rs886038636
|
|
NM_017780.4(CHD7):c.748C>A (p.Arg250Ser)
|
|
|
NM_017780.4(CHD7):c.7518G>A (p.Glu2506=)
|
|
|
NM_017780.4(CHD7):c.7529A>G (p.Lys2510Arg)
|
|
|
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu)
|
rs1408626113
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln)
|
|
|
NM_017780.4(CHD7):c.7972-7T>C
|
|
|
NM_017780.4(CHD7):c.8004T>C (p.Asp2668=)
|
|
|
NM_017780.4(CHD7):c.8027del (p.Asn2676fs)
|
|
|
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
|
|
|
NM_017780.4(CHD7):c.8180G>A (p.Arg2727Lys)
|
|
|
NM_017780.4(CHD7):c.8257A>G (p.Met2753Val)
|
|
|
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
|
|
|
NM_017780.4(CHD7):c.8428T>A (p.Phe2810Ile)
|
|
|
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr)
|
rs533600930
|
|
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
|
|
|
NM_017780.4(CHD7):c.8977A>C (p.Asn2993His)
|
|
|
NM_017780.4(CHD7):c.8991A>C (p.Glu2997Asp)
|
|
|
NM_017780.4(CHD7):c.957T>C (p.Asn319=)
|
|
|