ClinVar Miner

List of variants reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13963
Download table as spreadsheet
HGVS dbSNP
46;XX;t(1;13)(q11.2;p11.2)dn
46;XX;t(4;15)(q31.3;q15)
46;XY;inv(2)(q11.2q24.2)dn
46;XY;t(4;14)(p14;q11.2)dn
46;Y;inv(X)(q13q24)mat
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)
GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3
NC_000001.10:g.(?_160011163)_(160111132_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.12:g.(?_73603231)_(73609622_?)del
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
NC_000003.11:g.(?_128198104)_(128205221_?)dup
NC_000003.11:g.(?_128198104)_(128205874_?)dup
NC_000003.11:g.(?_128199862)_(128205874_?)dup
NC_000003.11:g.(?_128202693)_(128205884_?)dup
NC_000003.12:g.(?_128481009)_(128487041_?)dup
NC_000003.12:g.12664140G>C
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.10:g.119452446C>T
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NC_000005.9:g.(?_140052489)_(140072312_?)del
NC_000005.9:g.(?_140059894_140070834del
NC_000005.9:g.140059894_140070834del
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000007.14:g.107660819C>T
NC_000007.14:g.27096001A>G
NC_000007.14:g.27096002T>C
NC_000007.14:g.27100341G>A
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NC_000010.10:g.(?_73079047)_(73082831_?)dup
NC_000011.10:g.72080754A>G
NC_000011.10:g.72080785T>C
NC_000012.12:g.112418936G>T
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.11:g.21671064G>T
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NC_000021.9:g.36460620A>G
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19743226)_(19755855_?)dup
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.11:g.(?_29603989)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29654651)_(29654731_?)del
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753185)_(13787232_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.57910017_57910018del
NC_012920.1(MT-CYB):m.10005A>T rs1603222621
NC_012920.1(MT-CYB):m.10008A>G rs1603222626
NC_012920.1(MT-CYB):m.10014G>A rs1603222629
NC_012920.1(MT-CYB):m.10015T>C rs28374827
NC_012920.1(MT-CYB):m.10020T>C rs1603222636
NC_012920.1(MT-CYB):m.10027T>C rs1603222638
NC_012920.1(MT-CYB):m.10043del rs1603222645
NC_012920.1(MT-CYB):m.10048A>G rs878957961
NC_012920.1(MT-CYB):m.10055A>G rs1603222653
NC_012920.1(MT-CYB):m.10405T>C rs1603222825
NC_012920.1(MT-CYB):m.10457T>C rs1603222845
NC_012920.1(MT-CYB):m.10462T>C rs1603222850
NC_012920.1(MT-CYB):m.12143T>C rs1603223568
NC_012920.1(MT-CYB):m.12144A>G rs1603223569
NC_012920.1(MT-CYB):m.12150T>C rs1603223574
NC_012920.1(MT-CYB):m.12163A>G rs1603223581
NC_012920.1(MT-CYB):m.12173T>A rs1556424075
NC_012920.1(MT-CYB):m.12176G>A rs1603223594
NC_012920.1(MT-CYB):m.12184A>G rs1603223603
NC_012920.1(MT-CYB):m.12185G>A rs1603223607
NC_012920.1(MT-CYB):m.12202T>C rs1603223613
NC_012920.1(MT-CYB):m.12204A>C rs1603223614
NC_012920.1(MT-CYB):m.12205C>T rs1603223615
NC_012920.1(MT-CYB):m.12213G>A rs1603223616
NC_012920.1(MT-CYB):m.12218C>A rs1603223621
NC_012920.1(MT-CYB):m.12230A>G rs1603223625
NC_012920.1(MT-CYB):m.12241dup rs1603223633
NC_012920.1(MT-CYB):m.12247T>C rs1603223637
NC_012920.1(MT-CYB):m.12250C>T rs1603223639
NC_012920.1(MT-CYB):m.12255T>C rs1603223640
NC_012920.1(MT-CYB):m.12278T>C rs1603223646
NC_012920.1(MT-CYB):m.12291T>C rs1603223653
NC_012920.1(MT-CYB):m.12293G>A rs1603223654
NC_012920.1(MT-CYB):m.12302C>A rs1603223658
NC_012920.1(MT-CYB):m.12302C>T rs1603223658
NC_012920.1(MT-CYB):m.12318G>A rs1603223664
NC_012920.1(MT-CYB):m.14681G>A rs1603224827
NC_012920.1(MT-CYB):m.14729T>C rs1603224848
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-CYB):m.15888G>A rs1603225568
NC_012920.1(MT-CYB):m.15890C>T rs527236196
NC_012920.1(MT-CYB):m.15897G>A rs1603225575
NC_012920.1(MT-CYB):m.15909A>T rs1556424690
NC_012920.1(MT-CYB):m.15921T>C rs1603225593
NC_012920.1(MT-CYB):m.15976T>C rs1603225620
NC_012920.1(MT-CYB):m.15983T>C rs1603225623
NC_012920.1(MT-CYB):m.15984T>C rs1603225624
NC_012920.1(MT-CYB):m.15994A>G rs1603225627
NC_012920.1(MT-CYB):m.15995G>A rs1603225630
NC_012920.1(MT-CYB):m.16003T>C rs1603225634
NC_012920.1(MT-CYB):m.16013A>G rs1603225636
NC_012920.1(MT-CYB):m.16018_16032dup rs1603225639
NC_012920.1(MT-CYB):m.16021C>T rs1603225641
NC_012920.1(MT-CYB):m.1608G>A rs1603218582
NC_012920.1(MT-CYB):m.1619_1620insT rs1603218585
NC_012920.1(MT-CYB):m.1629A>G rs1603218587
NC_012920.1(MT-CYB):m.1631C>T rs1603218590
NC_012920.1(MT-CYB):m.1636A>G rs1603218591
NC_012920.1(MT-CYB):m.1638T>C rs1603218592
NC_012920.1(MT-CYB):m.1641G>A rs28416113
NC_012920.1(MT-CYB):m.1643A>G rs1603218595
NC_012920.1(MT-CYB):m.1654T>C rs1603218602
NC_012920.1(MT-CYB):m.1658T>C rs1603218607
NC_012920.1(MT-CYB):m.3248G>A rs879110136
NC_012920.1(MT-CYB):m.3252A>T rs199474661
NC_012920.1(MT-CYB):m.3263C>T rs1603218860
NC_012920.1(MT-CYB):m.3269A>G rs1603218862
NC_012920.1(MT-CYB):m.3272T>C rs1603218865
NC_012920.1(MT-CYB):m.4264G>A rs1603219385
NC_012920.1(MT-CYB):m.4320C>A rs1603219406
NC_012920.1(MT-CYB):m.4320C>T rs1603219406
NC_012920.1(MT-CYB):m.4327T>C rs1603219411
NC_012920.1(MT-CYB):m.4339G>A rs1603219415
NC_012920.1(MT-CYB):m.4360G>A rs1603219422
NC_012920.1(MT-CYB):m.4399T>C rs1603219445
NC_012920.1(MT-CYB):m.4400A>G rs1603219449
NC_012920.1(MT-CYB):m.4429G>A rs1603219456
NC_012920.1(MT-CYB):m.4451T>G rs1603219461
NC_012920.1(MT-CYB):m.4455A>G rs878986264
NC_012920.1(MT-CYB):m.4456C>T rs1603219465
NC_012920.1(MT-CYB):m.4466A>G rs1603219467
NC_012920.1(MT-CYB):m.5524T>C rs1603220004
NC_012920.1(MT-CYB):m.5542C>T rs1603220015
NC_012920.1(MT-CYB):m.5544T>C rs1603220018
NC_012920.1(MT-CYB):m.5550C>T rs1603220019
NC_012920.1(MT-CYB):m.5560G>A rs1603220026
NC_012920.1(MT-CYB):m.5573A>G rs1603220033
NC_012920.1(MT-CYB):m.5575T>C rs1603220034
NC_012920.1(MT-CYB):m.5590G>A rs28619345
NC_012920.1(MT-CYB):m.5607T>C rs1603220054
NC_012920.1(MT-CYB):m.5609T>C rs1603220058
NC_012920.1(MT-CYB):m.5619G>A rs1603220062
NC_012920.1(MT-CYB):m.5645G>A rs1603220068
NC_012920.1(MT-CYB):m.5654T>C rs1603220072
NC_012920.1(MT-CYB):m.5661A>G rs1603220076
NC_012920.1(MT-CYB):m.5669G>A rs1603220083
NC_012920.1(MT-CYB):m.5672T>C rs1603220085
NC_012920.1(MT-CYB):m.5693T>C rs1603220092
NC_012920.1(MT-CYB):m.5708C>A rs1603220094
NC_012920.1(MT-CYB):m.5791G>A rs1603220121
NC_012920.1(MT-CYB):m.5793A>G rs1603220122
NC_012920.1(MT-CYB):m.579T>C rs1603218447
NC_012920.1(MT-CYB):m.5802T>C rs1603220128
NC_012920.1(MT-CYB):m.5804A>G rs1603220130
NC_012920.1(MT-CYB):m.5809G>A rs1603220134
NC_012920.1(MT-CYB):m.5819T>C rs1603220139
NC_012920.1(MT-CYB):m.5837G>A rs1603220147
NC_012920.1(MT-CYB):m.5840C>A rs1603220149
NC_012920.1(MT-CYB):m.5841T>C rs1603220150
NC_012920.1(MT-CYB):m.5852T>C rs1603220153
NC_012920.1(MT-CYB):m.5858T>C rs1603220157
NC_012920.1(MT-CYB):m.5864G>A rs1603220158
NC_012920.1(MT-CYB):m.5865T>C rs1603220159
NC_012920.1(MT-CYB):m.5885T>C rs1603220164
NC_012920.1(MT-CYB):m.5889A>G rs1603220167
NC_012920.1(MT-CYB):m.588T>C rs1603218449
NC_012920.1(MT-CYB):m.624C>T rs1603218465
NC_012920.1(MT-CYB):m.628C>T rs1603218467
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NC_012920.1(MT-CYB):m.7478G>A rs1603220977
NC_012920.1(MT-CYB):m.7479G>A rs1603220980
NC_012920.1(MT-CYB):m.7487C>T rs1603220981
NC_012920.1(MT-CYB):m.7499C>A rs1603220989
NC_012920.1(MT-CYB):m.7518A>G rs1603220992
NC_012920.1(MT-CYB):m.7520G>A rs1603220993
NC_012920.1(MT-CYB):m.7525T>C rs1603220995
NC_012920.1(MT-CYB):m.7538T>C rs1603221004
NC_012920.1(MT-CYB):m.7555T>C rs1603221010
NC_012920.1(MT-CYB):m.7562A>G rs1603221015
NC_012920.1(MT-CYB):m.7568dup rs1603221020
NC_012920.1(MT-CYB):m.7577T>C rs1603221025
NC_012920.1(MT-CYB):m.7582C>T rs1603221026
NC_012920.1(MT-CYB):m.8301A>G rs1603221396
NC_012920.1(MT-CYB):m.8311T>A rs371589230
NC_012920.1(MT-CYB):m.8340_8341insT rs1603221409
NC_012920.1(MT-CYB):m.8358A>G rs1603221421
NC_012920.1(MT-CYB):m.8364A>T rs1603221428
NC_012920.1(MT-CYB):m.9993T>C rs1603222613
NC_012920.1(MT-CYB):m.9996T>C rs1556423755
NC_012920.1:m.11896C>G rs1057516065
NC_012920.1:m.12013A>G rs1057516067
NC_012920.1:m.12018C>G rs1057516068
NC_012920.1:m.13713C>A rs879193643
NC_012920.1:m.15127C>T rs1057516074
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.7496T>C rs1057516061
NC_012920.1:m.9355A>T rs1556423663
NM_000049.4(ASPA):c.806C>T (p.Thr269Met)
NM_000082.3(ERCC8):c.*373_*375dup rs886060720
NM_000082.3(ERCC8):c.*462T>A rs886060719
NM_000082.3(ERCC8):c.*724C>G rs886060718
NM_000082.3(ERCC8):c.*725T>G rs549186090
NM_000082.3(ERCC8):c.*763A>C rs886060717
NM_000082.3(ERCC8):c.-25G>C rs745927528
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
NM_000082.3(ERCC8):c.1023A>G (p.Val341=) rs138173863
NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.173+9A>G rs143356896
NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) rs146740678
NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) rs886060722
NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) rs150952570
NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) rs192695896
NM_000082.3(ERCC8):c.472T>C (p.Leu158=) rs561001438
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.551-10G>T rs758296965
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.4(ERCC8):c.*113A>G
NM_000082.4(ERCC8):c.*116T>C
NM_000082.4(ERCC8):c.*377C>G
NM_000082.4(ERCC8):c.*602C>G
NM_000082.4(ERCC8):c.*644G>A
NM_000082.4(ERCC8):c.*7T>A
NM_000082.4(ERCC8):c.-33C>T
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp)
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)
NM_000082.4(ERCC8):c.399+3A>G
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)
NM_000082.4(ERCC8):c.590G>A (p.Arg197His)
NM_000082.4(ERCC8):c.839C>A rs61754098
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645del rs886055747
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-26G>T rs747049729
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His) rs200738124
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.136G>A (p.Gly46Arg) rs200866082
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr) rs572059687
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) rs1553762295
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.3440C>T (p.Ser1147Phe) rs200107989
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.-10C>T
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
NM_000091.5(COL4A3):c.1150+4T>A
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474
NM_000091.5(COL4A3):c.1505-12G>A
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=) rs1574764067
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=) rs1238746236
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=) rs1251724413
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2747-4T>C rs772016854
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.3565+9T>G rs750406964
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
NM_000091.5(COL4A3):c.504T>C (p.Asp168=) rs748974369
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
NM_000091.5(COL4A3):c.934-6C>A rs369438839
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del (p.67_69PGP[1]) rs764884579
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.4(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.4(COL4A4):c.475C>T (p.Pro159Ser) rs760873029
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr) rs370606294
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.735G>A (p.Pro245=) rs923865420
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.1030-14A>G
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084
NM_000092.5(COL4A4):c.1459+5G>A
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2383+7G>A rs182406906
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060
NM_000092.5(COL4A4):c.4522+4T>G
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=) rs200799557
NM_000092.5(COL4A4):c.4809+9C>T rs765888822
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.71+10C>T rs374140251
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) rs752026166
NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) rs754010782
NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) rs371396764
NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) rs374264195
NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) rs769083884
NM_000122.1(ERCC3):c.1731-11T>C rs746754189
NM_000122.1(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851
NM_000122.1(ERCC3):c.1887dup (p.Gly630fs) rs1558952235
NM_000122.1(ERCC3):c.1929G>T (p.Val643=) rs375556869
NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904
NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) rs114508982
NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) rs767507847
NM_000122.1(ERCC3):c.28+8G>A rs886054844
NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) rs145762413
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000122.1(ERCC3):c.657+15G>A rs781533251
NM_000122.1(ERCC3):c.822+14C>T rs200833462
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.2(ERCC3):c.*138G>C
NM_000122.2(ERCC3):c.*220G>C
NM_000122.2(ERCC3):c.*83C>T
NM_000122.2(ERCC3):c.-31G>A
NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg)
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)
NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)
NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)
NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)
NM_000122.2(ERCC3):c.2218-5G>A rs201054106
NM_000122.2(ERCC3):c.2218-6C>T rs200733704
NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)
NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) rs1558962530
NM_000123.3(ERCC5):c.-126A>G rs754840043
NM_000123.3(ERCC5):c.-156C>A rs886049939
NM_000123.3(ERCC5):c.-241G>C rs4150249
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.3(ERCC5):c.1131T>A (p.Ala377=) rs764744058
NM_000123.3(ERCC5):c.1232C>T (p.Thr411Met) rs2227872
NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.3(ERCC5):c.127C>T (p.Arg43Trp) rs750156480
NM_000123.3(ERCC5):c.1287T>C (p.Asp429=) rs146853061
NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350
NM_000123.3(ERCC5):c.1641C>T (p.Asn547=) rs200615101
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.1917A>G (p.Glu639=) rs765554006
NM_000123.3(ERCC5):c.212G>A (p.Arg71His) rs587778293
NM_000123.3(ERCC5):c.2190T>C (p.Asp730=) rs148103512
NM_000123.3(ERCC5):c.2208G>C (p.Leu736Phe) rs201744259
NM_000123.3(ERCC5):c.2268G>C (p.Gln756His) rs777336956
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2295C>T (p.Thr765=) rs201206202
NM_000123.3(ERCC5):c.2320-15C>T rs886049940
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2534-10T>G rs199562917
NM_000123.3(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.3(ERCC5):c.2965-14T>A rs886049941
NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val) rs368550097
NM_000123.3(ERCC5):c.3003A>G (p.Gln1001=) rs886049942
NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043
NM_000123.3(ERCC5):c.3412G>A (p.Val1138Met) rs140930348
NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.3(ERCC5):c.3486C>T (p.Leu1162=) rs761650522
NM_000123.3(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.3(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699
NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) rs778333931
NM_000123.3(ERCC5):c.542A>G (p.His181Arg) rs4150295
NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) rs34291397
NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.3(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.3(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.3(ERCC5):c.739A>G (p.Ile247Val) rs200504271
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.876A>G (p.Ile292Met) rs193097418
NM_000123.4(ERCC5):c.*88C>T
NM_000123.4(ERCC5):c.-146A>G
NM_000123.4(ERCC5):c.-192A>C
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala)
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg)
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile)
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg)
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.1954+5G>A
NM_000123.4(ERCC5):c.1955-6G>A
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe)
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=)
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) rs773823921
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)
NM_000123.4(ERCC5):c.246A>C (p.Leu82=)
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=)
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln)
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=)
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=)
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg)
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val)
NM_000123.4(ERCC5):c.664A>G (p.Met222Val)
NM_000123.4(ERCC5):c.89-10A>G
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)
NM_000124.4(ERCC6):c.*1112G>A rs186262133
NM_000124.4(ERCC6):c.*1279T>A rs189942338
NM_000124.4(ERCC6):c.*1383T>G rs886047023
NM_000124.4(ERCC6):c.*1780T>C rs188228522
NM_000124.4(ERCC6):c.*1805G>T
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*1933A>G rs748783305
NM_000124.4(ERCC6):c.*2031A>G
NM_000124.4(ERCC6):c.*2237C>T rs192242583
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*2460T>C
NM_000124.4(ERCC6):c.*246T>C
NM_000124.4(ERCC6):c.*2540G>T
NM_000124.4(ERCC6):c.*2602A>G
NM_000124.4(ERCC6):c.*2662T>C
NM_000124.4(ERCC6):c.*2680A>C
NM_000124.4(ERCC6):c.*2729G>A
NM_000124.4(ERCC6):c.*2766T>G
NM_000124.4(ERCC6):c.*2973C>G
NM_000124.4(ERCC6):c.*3217T>G
NM_000124.4(ERCC6):c.*3280A>G
NM_000124.4(ERCC6):c.*3356C>T
NM_000124.4(ERCC6):c.*3366G>A
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*3684A>G
NM_000124.4(ERCC6):c.*3704C>T
NM_000124.4(ERCC6):c.*3720T>C
NM_000124.4(ERCC6):c.*388C>A rs886047029
NM_000124.4(ERCC6):c.*38A>G rs756639495
NM_000124.4(ERCC6):c.*3925A>G
NM_000124.4(ERCC6):c.*4019A>G
NM_000124.4(ERCC6):c.*4090G>A
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*589A>G
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*681G>A rs547014227
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.*813C>T
NM_000124.4(ERCC6):c.*900C>T rs189979670
NM_000124.4(ERCC6):c.*922C>T
NM_000124.4(ERCC6):c.*977A>G rs765959190
NM_000124.4(ERCC6):c.-100A>G rs886047041
NM_000124.4(ERCC6):c.-107A>G rs886047042
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.-15+11G>A rs766986601
NM_000124.4(ERCC6):c.-22G>A rs4253006
NM_000124.4(ERCC6):c.-32G>A
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-65G>A
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1686-12G>A
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1992+7C>T rs373710355
NM_000124.4(ERCC6):c.1993-12T>C
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His)
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Ile692_Phe693insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)
NM_000124.4(ERCC6):c.2287-3T>C rs780652533
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2287-5C>T rs772880581
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2598+7G>A rs769421755
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)
NM_000124.4(ERCC6):c.2829+11A>T rs777251839
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2925-8T>A rs147637331
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro)
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys)
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3983+4A>G
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp)
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.423-7T>C
NM_000124.4(ERCC6):c.423-9A>C
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.4(ERCC6):c.4430A>G (p.His1477Arg)
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)
NM_000124.4(ERCC6):c.858G>C (p.Lys286Asn) rs143260457
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser) rs766256094
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000124.4(ERCC6):c.958G>C (p.Val320Leu)
NM_000166.6(GJB1):c.*22C>T
NM_000166.6(GJB1):c.*277A>G
NM_000166.6(GJB1):c.*402G>A
NM_000166.6(GJB1):c.*443G>A
NM_000166.6(GJB1):c.*50G>C
NM_000166.6(GJB1):c.-102G>A
NM_000166.6(GJB1):c.-128G>A rs1057515983
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000218.2(KCNQ1):c.-38C>T rs886048160
NM_000218.2(KCNQ1):c.-69G>A rs886048159
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.2(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.*125C>T
NM_000218.3(KCNQ1):c.*240C>T
NM_000218.3(KCNQ1):c.*290A>G
NM_000218.3(KCNQ1):c.*295G>A
NM_000218.3(KCNQ1):c.*66C>T
NM_000218.3(KCNQ1):c.*730C>T
NM_000218.3(KCNQ1):c.*81C>T
NM_000218.3(KCNQ1):c.-55G>C
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000218.3(KCNQ1):c.1394-13A>G
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.3(KCNQ1):c.1590+13C>A
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr)
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys)
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484
NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr)
NM_000218.3(KCNQ1):c.387-12C>T
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)
NM_000218.3(KCNQ1):c.684-15C>G
NM_000218.3(KCNQ1):c.780+12G>A
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769
NM_000218.3(KCNQ1):c.921+12A>G
NM_000219.5(KCNE1):c.-561C>T rs886057028
NM_000219.5(KCNE1):c.-605G>A rs780282543
NM_000219.6(KCNE1):c.*1043T>C rs886057022
NM_000219.6(KCNE1):c.*1078G>A
NM_000219.6(KCNE1):c.*1192A>G rs886057021
NM_000219.6(KCNE1):c.*1290G>A
NM_000219.6(KCNE1):c.*1338C>T rs74508995
NM_000219.6(KCNE1):c.*1447C>G rs886057020
NM_000219.6(KCNE1):c.*1539C>A
NM_000219.6(KCNE1):c.*1542G>A
NM_000219.6(KCNE1):c.*1556G>A rs886057019
NM_000219.6(KCNE1):c.*1574C>T rs561997378
NM_000219.6(KCNE1):c.*1583A>C rs886057018
NM_000219.6(KCNE1):c.*1701A>G rs886057017
NM_000219.6(KCNE1):c.*1831C>T rs41314065
NM_000219.6(KCNE1):c.*1832C>T rs886057016
NM_000219.6(KCNE1):c.*1857G>A
NM_000219.6(KCNE1):c.*1859G>A rs754021039
NM_000219.6(KCNE1):c.*1928T>C rs886057015
NM_000219.6(KCNE1):c.*196C>G rs76568182
NM_000219.6(KCNE1):c.*2001G>A rs41314799
NM_000219.6(KCNE1):c.*2008G>A rs886057011
NM_000219.6(KCNE1):c.*2206G>A
NM_000219.6(KCNE1):c.*2298C>G
NM_000219.6(KCNE1):c.*2320G>T rs745512218
NM_000219.6(KCNE1):c.*2329C>A rs373970167
NM_000219.6(KCNE1):c.*2393C>T
NM_000219.6(KCNE1):c.*2413T>A rs747442476
NM_000219.6(KCNE1):c.*2475A>G
NM_000219.6(KCNE1):c.*278A>T
NM_000219.6(KCNE1):c.*30C>G rs150963475
NM_000219.6(KCNE1):c.*366A>C
NM_000219.6(KCNE1):c.*373A>G rs41314805
NM_000219.6(KCNE1):c.*375C>T
NM_000219.6(KCNE1):c.*457G>A rs886057024
NM_000219.6(KCNE1):c.*493C>T rs77190660
NM_000219.6(KCNE1):c.*553A>G rs570907779
NM_000219.6(KCNE1):c.*91del rs748419617
NM_000219.6(KCNE1):c.*960C>T
NM_000219.6(KCNE1):c.*995G>C rs886057023
NM_000219.6(KCNE1):c.-101A>T rs74706643
NM_000219.6(KCNE1):c.-13C>T rs745925445
NM_000219.6(KCNE1):c.-170C>T
NM_000219.6(KCNE1):c.-225G>C rs886057026
NM_000219.6(KCNE1):c.-24A>G
NM_000219.6(KCNE1):c.-298C>T rs78250687
NM_000219.6(KCNE1):c.-334G>A
NM_000219.6(KCNE1):c.-377+13G>A rs41315351
NM_000219.6(KCNE1):c.-432G>A rs539503433
NM_000219.6(KCNE1):c.-467A>T rs558817846
NM_000219.6(KCNE1):c.-521G>A
NM_000219.6(KCNE1):c.-522C>T rs370482882
NM_000219.6(KCNE1):c.-530G>A rs886057027
NM_000219.6(KCNE1):c.-57T>C rs886057025
NM_000219.6(KCNE1):c.-5C>A rs191334763
NM_000219.6(KCNE1):c.-82T>G rs145416040
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) rs150458884
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp)
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala)
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037
NM_000260.3(MYO7A):c.29T>C rs878853237
NM_000260.4(MYO7A):c.*100C>T
NM_000260.4(MYO7A):c.*101G>A rs886048683
NM_000260.4(MYO7A):c.*142A>G rs369873505
NM_000260.4(MYO7A):c.*201T>C
NM_000260.4(MYO7A):c.*208C>G rs886048684
NM_000260.4(MYO7A):c.*315C>G
NM_000260.4(MYO7A):c.*38G>A
NM_000260.4(MYO7A):c.*392A>G
NM_000260.4(MYO7A):c.*416C>T
NM_000260.4(MYO7A):c.*440G>A
NM_000260.4(MYO7A):c.*442T>C rs115238711
NM_000260.4(MYO7A):c.*75C>T
NM_000260.4(MYO7A):c.-154G>A rs545774605
NM_000260.4(MYO7A):c.-160G>A rs576789908
NM_000260.4(MYO7A):c.-170C>T rs886048667
NM_000260.4(MYO7A):c.-196C>T rs886048666
NM_000260.4(MYO7A):c.-20G>A rs886048668
NM_000260.4(MYO7A):c.-211A>G rs41298129
NM_000260.4(MYO7A):c.-52C>G
NM_000260.4(MYO7A):c.1003+10C>T rs782382971
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val)
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=) rs573947142
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu)
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro)
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=)
NM_000260.4(MYO7A):c.1201-12A>G
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693
NM_000260.4(MYO7A):c.132+6T>C
NM_000260.4(MYO7A):c.133-14C>T rs116228809
NM_000260.4(MYO7A):c.133-3C>A
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+6G>A
NM_000260.4(MYO7A):c.1343+7C>T rs782595035
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1399C>T (p.Arg467Trp)
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) rs111033219
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=) rs782195221
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.152A>C (p.Gln51Pro)
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=) rs746423219
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
NM_000260.4(MYO7A):c.156C>T (p.Asn52=)
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)
NM_000260.4(MYO7A):c.1635T>C (p.His545=)
NM_000260.4(MYO7A):c.1690+4C>T
NM_000260.4(MYO7A):c.1690+9G>T rs371146074
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=) rs782763913
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=)
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)
NM_000260.4(MYO7A):c.1797+13C>T
NM_000260.4(MYO7A):c.1797+7C>T
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu)
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
NM_000260.4(MYO7A):c.19-9C>T rs368452072
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn)
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met)
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln)
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu)
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=)
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) rs782364394
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)
NM_000260.4(MYO7A):c.2095-4C>G rs763060756
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser)
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro)
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln)
NM_000260.4(MYO7A):c.2282+5G>A rs540145750
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=)
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=)
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp) rs111033339
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp)
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro)
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro)
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=) rs782594184
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His)
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=)
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
NM_000260.4(MYO7A):c.2666C>T (p.Ala889Val)
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) rs782279442
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His)
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=)
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly)
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln)
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile)
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser)
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu)
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=)
NM_000260.4(MYO7A):c.3109-15C>T
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys)
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) rs375050157
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg)
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=) rs561459113
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3375+12C>T
NM_000260.4(MYO7A):c.3375+14C>A rs782500012
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser)
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=) rs1555087287
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3503+8C>A
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=) rs782788403
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)
NM_000260.4(MYO7A):c.3631-6C>A
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln)
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys)
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033
NM_000260.4(MYO7A):c.3750+20C>T
NM_000260.4(MYO7A):c.3750+5G>A rs111033391
NM_000260.4(MYO7A):c.3750+7G>A rs397516305
NM_000260.4(MYO7A):c.3750+8C>T
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3751-14T>C
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser)
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu)
NM_000260.4(MYO7A):c.3924+8C>T rs565801140
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.3925-8G>A rs367645097
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981
NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser)
NM_000260.4(MYO7A):c.3954C>T (p.His1318=) rs749218462
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.3992A>G (p.Lys1331Arg)
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=)
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu)
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu)
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-11C>T rs727503330
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=) rs1591438864
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys)
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln)
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=)
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=) rs767236447
NM_000260.4(MYO7A):c.4568+13G>A rs532356676
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=)
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=) rs376892582
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=)
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys)
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val)
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=)
NM_000260.4(MYO7A):c.495G>A (p.Thr165=)
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) rs374655803
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg)
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=)
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=) rs374162462
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys)
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys)
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776
NM_000260.4(MYO7A):c.5169-5G>A rs727505232
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met)
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
NM_000260.4(MYO7A):c.519G>A (p.Gln173=) rs369757929
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln)
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly) rs759346941
NM_000260.4(MYO7A):c.5327-10C>G
NM_000260.4(MYO7A):c.5327-5C>G
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=) rs372062718
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=)
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del)
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=) rs910989813
NM_000260.4(MYO7A):c.5480+10G>A rs768513428
NM_000260.4(MYO7A):c.5481-14G>A rs113075052
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) rs748080151
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542
NM_000260.4(MYO7A):c.5589C>T (p.His1863=)
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001
NM_000260.4(MYO7A):c.5786A>G (p.Gln1929Arg)
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn)
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=)
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly)
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) rs752881271
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.593-4G>A rs876657534
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
NM_000260.4(MYO7A):c.5945-9G>A rs1233077552
NM_000260.4(MYO7A):c.5945-9G>C
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu)
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile)
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) rs560293591
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile)
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met) rs532542968
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=)
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met)
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=)
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn)
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp)
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys)
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu)
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=)
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del)
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile)
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg)
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=)
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=) rs778498696
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr)
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) rs185748200
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr)
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln)
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158
NM_000260.4(MYO7A):c.735+3G>A
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.741G>A (p.Leu247=)
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_000260.4(MYO7A):c.78G>A (p.Ala26=) rs373517098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln) rs535205981
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.4(NF2):c.*1007C>A rs886057350
NM_000268.4(NF2):c.*106C>T rs886057338
NM_000268.4(NF2):c.*109G>T rs886057339
NM_000268.4(NF2):c.*1111G>T rs886057351
NM_000268.4(NF2):c.*1159G>A
NM_000268.4(NF2):c.*1260dup rs886057352
NM_000268.4(NF2):c.*1264C>T rs879093980
NM_000268.4(NF2):c.*1264del rs886057353
NM_000268.4(NF2):c.*1287T>C
NM_000268.4(NF2):c.*1287dup rs886057354
NM_000268.4(NF2):c.*1294T>G rs886057355
NM_000268.4(NF2):c.*1297A>G rs886057356
NM_000268.4(NF2):c.*1326T>C rs886057358
NM_000268.4(NF2):c.*136G>A rs886057340
NM_000268.4(NF2):c.*1418T>C
NM_000268.4(NF2):c.*1439T>C rs886057359
NM_000268.4(NF2):c.*1522C>A rs886057360
NM_000268.4(NF2):c.*1538C>G
NM_000268.4(NF2):c.*1559C>A rs886057361
NM_000268.4(NF2):c.*158T>C rs886057341
NM_000268.4(NF2):c.*1624G>A
NM_000268.4(NF2):c.*1652G>T rs751068883
NM_000268.4(NF2):c.*1668G>T
NM_000268.4(NF2):c.*1672C>T rs757272448
NM_000268.4(NF2):c.*1736T>A
NM_000268.4(NF2):c.*1737C>A rs886057362
NM_000268.4(NF2):c.*1782T>C rs886057363
NM_000268.4(NF2):c.*1823C>T rs190590507
NM_000268.4(NF2):c.*1848C>T rs886057364
NM_000268.4(NF2):c.*189A>C
NM_000268.4(NF2):c.*199C>A rs886057342
NM_000268.4(NF2):c.*2003T>G rs886057367
NM_000268.4(NF2):c.*2007del rs886057365
NM_000268.4(NF2):c.*2007dup rs886057365
NM_000268.4(NF2):c.*2010G>T rs886057368
NM_000268.4(NF2):c.*2020C>T rs886057370
NM_000268.4(NF2):c.*2021dup rs886057369
NM_000268.4(NF2):c.*2031_*2032dup rs11442202
NM_000268.4(NF2):c.*2039dup rs886057371
NM_000268.4(NF2):c.*204C>T
NM_000268.4(NF2):c.*2068G>T rs886057372
NM_000268.4(NF2):c.*2153T>C
NM_000268.4(NF2):c.*2205G>A rs886057373
NM_000268.4(NF2):c.*2206G>A rs886057374
NM_000268.4(NF2):c.*2215A>G
NM_000268.4(NF2):c.*2245C>G
NM_000268.4(NF2):c.*2266C>T rs563567208
NM_000268.4(NF2):c.*2310C>T rs777037756
NM_000268.4(NF2):c.*2332C>T
NM_000268.4(NF2):c.*2365C>T rs765602116
NM_000268.4(NF2):c.*2373C>A rs886057375
NM_000268.4(NF2):c.*2396G>T rs886057376
NM_000268.4(NF2):c.*2445G>A
NM_000268.4(NF2):c.*2499C>A rs569992376
NM_000268.4(NF2):c.*256T>C
NM_000268.4(NF2):c.*2612T>C
NM_000268.4(NF2):c.*266G>T rs886057343
NM_000268.4(NF2):c.*2670C>A rs763727745
NM_000268.4(NF2):c.*2753A>G rs199805259
NM_000268.4(NF2):c.*2803C>A rs886057377
NM_000268.4(NF2):c.*284C>T
NM_000268.4(NF2):c.*2911C>T
NM_000268.4(NF2):c.*293C>A rs886057344
NM_000268.4(NF2):c.*2999G>C rs886057378
NM_000268.4(NF2):c.*3018C>T rs886057379
NM_000268.4(NF2):c.*3055C>T rs886057380
NM_000268.4(NF2):c.*3083C>T
NM_000268.4(NF2):c.*3107T>G rs886057381
NM_000268.4(NF2):c.*3133A>G
NM_000268.4(NF2):c.*3140G>T rs886057382
NM_000268.4(NF2):c.*3189G>T rs886057383
NM_000268.4(NF2):c.*3266C>A rs886057384
NM_000268.4(NF2):c.*3298G>T rs886057385
NM_000268.4(NF2):c.*3313A>T
NM_000268.4(NF2):c.*3319del rs372162228
NM_000268.4(NF2):c.*335C>T rs886057345
NM_000268.4(NF2):c.*3443G>T rs886057387
NM_000268.4(NF2):c.*3480T>G rs886057388
NM_000268.4(NF2):c.*359G>A rs572307337
NM_000268.4(NF2):c.*3613_*3618del rs755969033
NM_000268.4(NF2):c.*3644C>T
NM_000268.4(NF2):c.*3645G>A
NM_000268.4(NF2):c.*3646C>T rs886057390
NM_000268.4(NF2):c.*3670C>T rs886057391
NM_000268.4(NF2):c.*3671G>A
NM_000268.4(NF2):c.*3715C>A rs886057392
NM_000268.4(NF2):c.*3720C>A
NM_000268.4(NF2):c.*3765G>T
NM_000268.4(NF2):c.*3783T>C rs886057393
NM_000268.4(NF2):c.*388C>T rs777219109
NM_000268.4(NF2):c.*397C>T
NM_000268.4(NF2):c.*420C>T
NM_000268.4(NF2):c.*527G>T
NM_000268.4(NF2):c.*532G>T rs886057346
NM_000268.4(NF2):c.*561C>G rs776610927
NM_000268.4(NF2):c.*573C>T rs543669369
NM_000268.4(NF2):c.*587G>T rs886057347
NM_000268.4(NF2):c.*695C>T
NM_000268.4(NF2):c.*758G>A
NM_000268.4(NF2):c.*768_*769dup rs886057348
NM_000268.4(NF2):c.*801A>G
NM_000268.4(NF2):c.*860C>T
NM_000268.4(NF2):c.*913C>T
NM_000268.4(NF2):c.*937C>T
NM_000268.4(NF2):c.*942C>T
NM_000268.4(NF2):c.*944G>A
NM_000268.4(NF2):c.*957C>T
NM_000268.4(NF2):c.*977C>T
NM_000268.4(NF2):c.*987C>A rs886057349
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.-163C>T
NM_000268.4(NF2):c.-268G>T rs886057335
NM_000268.4(NF2):c.-284C>A rs886057334
NM_000268.4(NF2):c.-320C>T rs886057333
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys)
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554
NM_000268.4(NF2):c.100G>C (p.Glu34Gln)
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr) rs780430071
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser)
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys) rs747756728
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
NM_000268.4(NF2):c.1066T>A (p.Leu356Met)
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu)
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.114+4A>G
NM_000268.4(NF2):c.114+4A>T
NM_000268.4(NF2):c.114+6C>T
NM_000268.4(NF2):c.115-8101del
NM_000268.4(NF2):c.115A>G (p.Met39Val)
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu)
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser)
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu)
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466
NM_000268.4(NF2):c.1256C>T (p.Thr419Met)
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) rs763826793
NM_000268.4(NF2):c.1270C>G (p.Arg424Gly) rs763826793
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337
NM_000268.4(NF2):c.1301A>G (p.Glu434Gly) rs1601648832
NM_000268.4(NF2):c.1303G>T (p.Val435Leu) rs772334382
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
NM_000268.4(NF2):c.133G>A (p.Asp45Asn)
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
NM_000268.4(NF2):c.1341G>A (p.Arg447=)
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr)
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu)
NM_000268.4(NF2):c.1370A>T (p.Asp457Val)
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg)
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys)
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu)
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1442A>G (p.Tyr481Cys)
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1446+5G>T
NM_000268.4(NF2):c.1446+6C>G
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.4(NF2):c.1447-9C>G
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala)
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr) rs1601658904
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922
NM_000268.4(NF2):c.1480G>C (p.Asp494His)
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.4(NF2):c.1488A>C (p.Pro496=)
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser)
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1511G>A (p.Ser504Asn) rs756366940
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile)
NM_000268.4(NF2):c.1517C>G (p.Ser506Cys) rs970051210
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg) rs886057337
NM_000268.4(NF2):c.1540A>C (p.Met514Leu)
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
NM_000268.4(NF2):c.1575-6C>G
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
NM_000268.4(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.4(NF2):c.157A>G (p.Thr53Ala) rs1601578990
NM_000268.4(NF2):c.1585A>G (p.Met529Val)
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.162G>A (p.Leu54=)
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
NM_000268.4(NF2):c.1660A>T (p.Arg554Trp)
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747
NM_000268.4(NF2):c.1685A>G (p.His562Arg)
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly) rs1318481716
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
NM_000268.4(NF2):c.1720C>T (p.His574Tyr)
NM_000268.4(NF2):c.1721A>C (p.His574Pro)
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1732A>G (p.Lys578Glu)
NM_000268.4(NF2):c.1733A>G (p.Lys578Arg)
NM_000268.4(NF2):c.1735A>C (p.Lys579Gln)
NM_000268.4(NF2):c.1737+1420C>T
NM_000268.4(NF2):c.1737+1432G>A rs746764835
NM_000268.4(NF2):c.1737+2098A>G rs75296199
NM_000268.4(NF2):c.1737+5C>T
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600
NM_000268.4(NF2):c.1769C>T (p.Ala590Val)
NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del)
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
NM_000268.4(NF2):c.191T>C (p.Leu64Pro)
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240
NM_000268.4(NF2):c.1A>G (p.Met1Val)
NM_000268.4(NF2):c.208G>C (p.Asp70His)
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.222G>T (p.Trp74Cys)
NM_000268.4(NF2):c.223C>A (p.Leu75Ile)
NM_000268.4(NF2):c.22C>T (p.Arg8Cys)
NM_000268.4(NF2):c.240+6G>A
NM_000268.4(NF2):c.240+6G>C
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
NM_000268.4(NF2):c.251A>G (p.His84Arg)
NM_000268.4(NF2):c.253G>C (p.Asp85His)
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
NM_000268.4(NF2):c.271C>A (p.Pro91Thr) rs1555987645
NM_000268.4(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.4(NF2):c.272C>G (p.Pro91Arg)
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923
NM_000268.4(NF2):c.300T>A (p.Phe100Leu) rs1555987677
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.305C>G (p.Pro102Arg) rs1601583679
NM_000268.4(NF2):c.311A>C (p.Asn104Thr)
NM_000268.4(NF2):c.319G>A (p.Glu107Lys)
NM_000268.4(NF2):c.326T>C (p.Leu109Pro) rs1601583740
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys)
NM_000268.4(NF2):c.332A>C (p.Gln111Pro)
NM_000268.4(NF2):c.337A>C (p.Ile113Leu)
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
NM_000268.4(NF2):c.364-3C>T
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His)
NM_000268.4(NF2):c.376A>G (p.Ile126Val)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del) rs1351718417
NM_000268.4(NF2):c.400C>T (p.Pro134Ser) rs1555988776
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.440A>C (p.Gln147Pro)
NM_000268.4(NF2):c.447+6C>T
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.473A>G (p.His158Arg)
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.495A>G (p.Gln165=) rs1601611991
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.499G>C (p.Glu167Gln)
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000268.4(NF2):c.504G>C (p.Leu168Phe)
NM_000268.4(NF2):c.506T>C (p.Leu169Pro)
NM_000268.4(NF2):c.50A>G (p.Lys17Arg)
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731
NM_000268.4(NF2):c.516G>A (p.Arg172=)
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.4(NF2):c.524A>G (p.Asn175Ser)
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.4(NF2):c.598A>G (p.Arg200Gly)
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.599+6G>T
NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
NM_000268.4(NF2):c.602A>T (p.Asp201Val) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.647T>C (p.Met216Thr)
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377
NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
NM_000268.4(NF2):c.675+6T>C
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.67A>C (p.Thr23Pro)
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573
NM_000268.4(NF2):c.69C>G (p.Thr23=)
NM_000268.4(NF2):c.709G>C (p.Asp237His)
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.731A>G (p.Tyr244Cys)
NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
NM_000268.4(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.4(NF2):c.73A>G (p.Arg25Gly)
NM_000268.4(NF2):c.73A>T (p.Arg25Trp)
NM_000268.4(NF2):c.743A>G (p.Asn248Ser)
NM_000268.4(NF2):c.749T>A (p.Leu250Gln) rs1432132718
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.758A>G (p.Lys253Arg) rs773573049
NM_000268.4(NF2):c.769C>T (p.Pro257Ser)
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935
NM_000268.4(NF2):c.772T>G (p.Trp258Gly) rs1601624186
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
NM_000268.4(NF2):c.789C>A (p.Asn263Lys)
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
NM_000268.4(NF2):c.810+6A>G
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.820A>G (p.Lys274Glu)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.851A>G (p.Lys284Arg) rs764034925
NM_000268.4(NF2):c.857A>G (p.Asn286Ser)
NM_000268.4(NF2):c.85A>G (p.Met29Val)
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.872G>T (p.Arg291Leu)
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.886-3C>T
NM_000268.4(NF2):c.896T>C (p.Leu299Pro)
NM_000268.4(NF2):c.89A>G (p.Asp30Gly)
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.4(NF2):c.916C>G (p.Leu306Val)
NM_000268.4(NF2):c.922A>G (p.Met308Val)
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.4(NF2):c.93C>A (p.Ala31=)
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
NM_000268.4(NF2):c.999G>C (p.Gln333His)
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln)
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser)
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*192T>C rs775863791
NM_000307.5(POU3F4):c.*297T>C
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe)
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu)
NM_000307.5(POU3F4):c.585A>G (p.Glu195=)
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000400.3(ERCC2):c.*31G>A rs886054494
NM_000400.3(ERCC2):c.1118+4C>G rs762719901
NM_000400.3(ERCC2):c.1237+5G>A rs761017664
NM_000400.3(ERCC2):c.1276C>T (p.Pro426Ser) rs577723968
NM_000400.3(ERCC2):c.1363A>G (p.Ile455Val) rs754585006
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1404C>T (p.Pro468=) rs886054497
NM_000400.3(ERCC2):c.147A>G (p.Thr49=) rs147826890
NM_000400.3(ERCC2):c.1644C>T (p.Thr548=) rs375824454
NM_000400.3(ERCC2):c.1649C>T (p.Ala550Val) rs886054496
NM_000400.3(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.3(ERCC2):c.183+2T>A rs201127596
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.1904C>T (p.Ala635Val) rs34517175
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.1962C>T (p.Phe654=) rs762985501
NM_000400.3(ERCC2):c.2083C>T (p.Arg695Cys) rs201392911
NM_000400.3(ERCC2):c.2094G>A (p.Gln698=) rs886054495
NM_000400.3(ERCC2):c.2127C>T (p.Thr709=) rs147128863
NM_000400.3(ERCC2):c.2128G>A (p.Val710Met) rs141808167
NM_000400.3(ERCC2):c.2142C>G (p.Val714=) rs546902024
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2191-3C>T rs748611039
NM_000400.3(ERCC2):c.2231T>C (p.Leu744Pro) rs201370106
NM_000400.3(ERCC2):c.2260G>C (p.Glu754Gln) rs200022901
NM_000400.3(ERCC2):c.308C>T (p.Pro103Leu) rs142462393
NM_000400.3(ERCC2):c.452_461del (p.Ser151fs) rs1568543189
NM_000400.3(ERCC2):c.5+6A>C rs751637822
NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) rs142936491
NM_000400.3(ERCC2):c.572C>T (p.Pro191Leu) rs886054499
NM_000400.3(ERCC2):c.601C>T (p.His201Tyr) rs1799792
NM_000400.3(ERCC2):c.691G>A (p.Val231Met) rs200895828
NM_000400.3(ERCC2):c.740T>C (p.Met247Thr) rs372176415
NM_000400.3(ERCC2):c.749A>C (p.Asn250Thr) rs753889198
NM_000400.3(ERCC2):c.902C>A (p.Thr301Lys) rs199863965
NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu) rs757790912
NM_000400.3(ERCC2):c.949+9C>T rs529824119
NM_000400.3(ERCC2):c.950-13C>A rs886054498
NM_000400.3(ERCC2):c.988C>T (p.Leu330=) rs146022050
NM_000400.4(ERCC2):c.*137G>A
NM_000400.4(ERCC2):c.*162G>T
NM_000400.4(ERCC2):c.*167C>T
NM_000400.4(ERCC2):c.*181G>T
NM_000400.4(ERCC2):c.*224C>T
NM_000400.4(ERCC2):c.*68G>A
NM_000400.4(ERCC2):c.*70C>T
NM_000400.4(ERCC2):c.*78C>A
NM_000400.4(ERCC2):c.1307+14C>G
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His)
NM_000400.4(ERCC2):c.1377+8C>T rs370862494
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) rs202156896
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)
NM_000400.4(ERCC2):c.184-5G>C
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)
NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)
NM_000400.4(ERCC2):c.2190+11C>T
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe)
NM_000400.4(ERCC2):c.229G>A (p.Val77Met)
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys)
NM_000400.4(ERCC2):c.348T>C (p.Cys116=)
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser)
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) rs769750286
NM_000400.4(ERCC2):c.57C>T (p.Pro19=)
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp)
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn) rs200443634
NM_000400.4(ERCC2):c.739A>G (p.Met247Val)
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met)
NM_000400.4(ERCC2):c.930G>C (p.Leu310=)
NM_000400.4(ERCC2):c.949+3G>T
NM_000400.4(ERCC2):c.978C>G (p.Ala326=)
NM_000414.4(HSD17B4):c.*123A>G
NM_000414.4(HSD17B4):c.*134C>T rs543194892
NM_000414.4(HSD17B4):c.*235T>C rs553631151
NM_000414.4(HSD17B4):c.-75C>A
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346
NM_000414.4(HSD17B4):c.112+11G>A
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe)
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=) rs368565759
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser)
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125
NM_000414.4(HSD17B4):c.303-11T>A
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)
NM_000414.4(HSD17B4):c.622+5G>A rs536487449
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr)
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120
NM_000441.1(SLC26A4):c.-139C>T rs879914861
NM_000441.1(SLC26A4):c.-186A>G rs555307083
NM_000441.1(SLC26A4):c.-189A>T rs111033440
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.*1059T>C rs183926745
NM_000441.2(SLC26A4):c.*1068T>C
NM_000441.2(SLC26A4):c.*1123A>G rs141341508
NM_000441.2(SLC26A4):c.*1200G>A rs549659217
NM_000441.2(SLC26A4):c.*120G>A
NM_000441.2(SLC26A4):c.*1277A>G rs560359006
NM_000441.2(SLC26A4):c.*1466T>A
NM_000441.2(SLC26A4):c.*1517G>C rs2712205
NM_000441.2(SLC26A4):c.*1558T>C
NM_000441.2(SLC26A4):c.*1563C>A
NM_000441.2(SLC26A4):c.*1584dup rs886061890
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A
NM_000441.2(SLC26A4):c.*1682C>T
NM_000441.2(SLC26A4):c.*16G>T
NM_000441.2(SLC26A4):c.*1700A>T
NM_000441.2(SLC26A4):c.*1735C>T
NM_000441.2(SLC26A4):c.*1789G>A
NM_000441.2(SLC26A4):c.*1836C>T
NM_000441.2(SLC26A4):c.*1868C>G
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1905G>A
NM_000441.2(SLC26A4):c.*1945G>A
NM_000441.2(SLC26A4):c.*1960T>A rs886061893
NM_000441.2(SLC26A4):c.*1982C>A
NM_000441.2(SLC26A4):c.*200A>T
NM_000441.2(SLC26A4):c.*201C>A
NM_000441.2(SLC26A4):c.*202G>A
NM_000441.2(SLC26A4):c.*2047A>G rs534409544
NM_000441.2(SLC26A4):c.*2065G>A
NM_000441.2(SLC26A4):c.*2093T>G
NM_000441.2(SLC26A4):c.*2147G>A rs886061894
NM_000441.2(SLC26A4):c.*2237A>G
NM_000441.2(SLC26A4):c.*2250_*2251del rs886061895
NM_000441.2(SLC26A4):c.*2307A>G
NM_000441.2(SLC26A4):c.*239C>T rs113516368
NM_000441.2(SLC26A4):c.*343C>A rs139104953
NM_000441.2(SLC26A4):c.*350C>T
NM_000441.2(SLC26A4):c.*351G>A
NM_000441.2(SLC26A4):c.*36C>T
NM_000441.2(SLC26A4):c.*376A>G
NM_000441.2(SLC26A4):c.*397T>C
NM_000441.2(SLC26A4):c.*409A>T rs752578836
NM_000441.2(SLC26A4):c.*51T>C rs371263685
NM_000441.2(SLC26A4):c.*523A>G rs560536749
NM_000441.2(SLC26A4):c.*614C>T rs77315223
NM_000441.2(SLC26A4):c.*618A>G rs886061888
NM_000441.2(SLC26A4):c.*69C>A rs76894072
NM_000441.2(SLC26A4):c.*780T>C rs527503006
NM_000441.2(SLC26A4):c.*791A>G rs146458433
NM_000441.2(SLC26A4):c.*840C>T rs886061889
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) rs886061886
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys)
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1264-4C>T rs1488973035
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1438-7del rs753586849
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
NM_000441.2(SLC26A4):c.1448T>A (p.Val483Glu) rs745473179
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser) rs753960052
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val)
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met)
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys) rs876658003
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr) rs397516425
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413
NM_000441.2(SLC26A4):c.2070G>A (p.Val690=) rs374686650
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val)
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021
NM_000441.2(SLC26A4)