NM_018719.5(CDCA7L):c.*980T>C
|
rs7971
|
0.27747
|
NM_018719.5(CDCA7L):c.*501T>C
|
rs12700325
|
0.20592
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06056
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
NM_018719.5(CDCA7L):c.*1052G>A
|
rs72658841
|
0.01754
|
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)
|
rs143362381
|
0.00403
|
NM_018719.5(CDCA7L):c.*963G>C
|
rs79947346
|
0.00244
|
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys)
|
rs183031009
|
0.00120
|
NM_018719.5(CDCA7L):c.*1006A>G
|
rs573090758
|
0.00092
|
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)
|
rs147454485
|
0.00080
|
NM_018719.5(CDCA7L):c.*1333C>T
|
rs114694338
|
0.00036
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=)
|
rs199706799
|
0.00028
|
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys)
|
rs200466467
|
0.00027
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
NM_018719.5(CDCA7L):c.*805G>A
|
rs192515848
|
0.00018
|
NM_018719.5(CDCA7L):c.*912A>G
|
rs547875413
|
0.00017
|
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)
|
rs138945257
|
0.00016
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=)
|
rs370038827
|
0.00010
|
NM_001277115.2(DNAH11):c.13407_13415dup (p.Gln4470_Thr4472dup)
|
rs748080467
|
0.00006
|
NM_001277115.2(DNAH11):c.13494C>T (p.Ser4498=)
|
rs368269718
|
0.00006
|
NM_018719.5(CDCA7L):c.*887G>A
|
rs886062191
|
0.00006
|
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His)
|
rs775606157
|
0.00004
|
NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys)
|
rs551275210
|
0.00004
|
NM_018719.5(CDCA7L):c.*1246G>A
|
rs72658835
|
0.00004
|
NM_018719.5(CDCA7L):c.*804C>T
|
rs886062192
|
0.00004
|
NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del)
|
rs552487543
|
0.00003
|
NM_018719.5(CDCA7L):c.*942C>T
|
rs192395057
|
0.00003
|
NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr)
|
rs370565524
|
0.00002
|
NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys)
|
rs1467862243
|
0.00002
|
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys)
|
rs191791959
|
0.00002
|
NM_001277115.2(DNAH11):c.13445G>C (p.Arg4482Thr)
|
rs191791959
|
0.00001
|
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe)
|
rs1320072390
|
0.00001
|
GRCh37/hg19 7p15.3(chr7:21713059-22067069)x3
|
|
|
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
|
|
|
NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)
|
|
|
NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)
|
|
|
NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)
|
|
|
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
|
|
|
NM_001277115.2(DNAH11):c.13320_13350dup (p.Lys4451delinsProSerArgAsnHisCysTer)
|
|
|
NM_001277115.2(DNAH11):c.13320_13416dup (p.Lys4473delinsProSerArgAsnHisCysTer)
|
rs1784790883
|
|
NM_001277115.2(DNAH11):c.13321C>G (p.Gln4441Glu)
|
|
|
NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter)
|
rs1261703349
|
|
NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)
|
|
|
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
|
|
|
NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)
|
|
|
NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu)
|
rs1375156859
|
|
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
|
|
|
NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)
|
|
|
NM_001277115.2(DNAH11):c.13342G>A (p.Ala4448Thr)
|
|
|
NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys)
|
rs751222708
|
|
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)
|
rs1257886811
|
|
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
|
|
|
NM_001277115.2(DNAH11):c.13364_13415dup (p.Lys4473fs)
|
rs2128053357
|
|
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=)
|
rs201444942
|
|
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=)
|
rs201444942
|
|
NM_001277115.2(DNAH11):c.13380_13383dup (p.Ala4462fs)
|
|
|
NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)
|
|
|
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=)
|
rs759644499
|
|
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
|
|
|
NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser)
|
rs1784797805
|
|
NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)
|
|
|
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
|
|
|
NM_001277115.2(DNAH11):c.13406_13409del (p.Arg4469fs)
|
|
|
NM_001277115.2(DNAH11):c.13409_13424del (p.Gln4470fs)
|
|
|
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
|
|
|
NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)
|
|
|
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
|
|
|
NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)
|
|
|
NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)
|
|
|
NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)
|
|
|
NM_001277115.2(DNAH11):c.13418_13421dup (p.Tyr4476fs)
|
rs1784799612
|
|
NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)
|
|
|
NM_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)
|
|
|
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)
|
rs771508476
|
|
NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del)
|
rs1554294443
|
|
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
|
|
|
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
|
|
|
NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter)
|
rs551275210
|
|
NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)
|
|
|
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
|
|
|
NM_001277115.2(DNAH11):c.13439_13449dup (p.Lys4484fs)
|
|
|
NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly)
|
rs1784802858
|
|
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
|
|
|
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
|
|
|
NM_001277115.2(DNAH11):c.13451_13452dup (p.Leu4485fs)
|
rs1450623027
|
|
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
|
|
|
NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)
|
|
|
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
|
|
|
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=)
|
rs1489261617
|
|
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
|
|
|
NM_001277115.2(DNAH11):c.13472_*75dup (p.Ile4491_Ter4517=)
|
rs1784806477
|
|
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
|
|
|
NM_001277115.2(DNAH11):c.13473C>G (p.Ile4491Met)
|
rs1784806581
|
|
NM_001277115.2(DNAH11):c.13473_*75dup (p.Tyr4490_Ter4517=)
|
rs878854439
|
|
NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys)
|
|
|
NM_001277115.2(DNAH11):c.13476dup (p.Thr4493fs)
|
|
|
NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)
|
|
|
NM_001277115.2(DNAH11):c.13480_13492dup (p.Ser4498fs)
|
rs2128053495
|
|
NM_001277115.2(DNAH11):c.13482C>G (p.Phe4494Leu)
|
rs370038827
|
|
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
|
|
|
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs)
|
rs1212535211
|
|
NM_001277115.2(DNAH11):c.13499A>G (p.Glu4500Gly)
|
|
|
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs)
|
rs72658839
|
|
NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer)
|
rs1554294459
|
|
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
|
|
|
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs)
|
rs2128053554
|
|
NM_001277115.2(DNAH11):c.13515_13526dup (p.Leu4507_Val4510dup)
|
rs1254126467
|
|
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
|
|
|
NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)
|
|
|
NM_001277115.2(DNAH11):c.13523_13543dup (p.Ala4508_Leu4514dup)
|
rs1784814248
|
|
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
|
|
|
NM_001277115.2(DNAH11):c.13527_13547dup (p.Val4510_Ala4516dup)
|
rs1784815114
|
|
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
|
|
|
NM_001277115.2(DNAH11):c.13531G>A (p.Ala4511Thr)
|
rs1562614917
|
|
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del)
|
rs1554294478
|
|
NM_001277115.2(DNAH11):c.13536_13548dup (p.Ter4517AlaextTer?)
|
rs764221599
|
|
NM_001277115.2(DNAH11):c.13537C>A (p.Leu4513Ile)
|
|
|
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
|
|
|
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
|
|
|
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
|
|
|
NM_018719.5(CDCA7L):c.*1320G>A
|
|
|
NM_018719.5(CDCA7L):c.*1321G>A
|
|
|
NM_018719.5(CDCA7L):c.*1322C>A
|
|
|
NM_018719.5(CDCA7L):c.*1327dup
|
|
|
NM_018719.5(CDCA7L):c.*1328C>G
|
|
|
NM_018719.5(CDCA7L):c.*1328CA[1]
|
|
|
NM_018719.5(CDCA7L):c.*1330C>T
|
|
|
NM_018719.5(CDCA7L):c.*1333_*1334del
|
|
|
NM_018719.5(CDCA7L):c.*1334G>A
|
rs141951506
|
|
NM_018719.5(CDCA7L):c.*1334G>C
|
|
|
NM_018719.5(CDCA7L):c.*1334G>T
|
|
|
NM_018719.5(CDCA7L):c.*1335G>A
|
|
|
NM_018719.5(CDCA7L):c.*1335G>T
|
|
|
NM_018719.5(CDCA7L):c.*1375AAGT[1]
|
rs10555456
|
|
NM_018719.5(CDCA7L):c.*551CACTGGA[1]
|
rs113860457
|
|
NM_018719.5(CDCA7L):c.*766_*769dup
|
rs745609865
|
|
NM_018719.5(CDCA7L):c.*788T>C
|
rs1289391313
|
|
NM_018719.5(CDCA7L):c.*875G>A
|
rs72658842
|
|
NM_018719.5(CDCA7L):c.*879G>C
|
rs62445901
|
|
NM_018719.5(CDCA7L):c.*918_*919dup
|
rs886062190
|
|
NM_018719.5(CDCA7L):c.*989G>A
|
rs886062189
|
|