ClinVar Miner

List of variants reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4685
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HGVS dbSNP
1567del9
15q15.3 deletion
1685del36
2606-2623del
4245del6, 4241G>A
46;X;t(X;5)(p11.23;q35)dn
46;XY;t(6;11)(p12.3;p14.2)dn
46;XY;t(8;9)(q13;p22)dn
9q21.11 duplication
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
ATP6V0A4, 1-BP DEL, GLN276
ATP6V1B1, 1-BP DEL
ATP6V1B1, IVS12DS, G-C, +1
BSND, EX3-EX4 DEL
BSND, IVS1, 41-BP DEL
C108S
CCDC50, 8-BP DUP, NT1394
CHD7, DEL EXONS 8-12
CHSY1, 30-BP DEL, NT55
COG1, 1-BP INS, 2659C
COL11A1, 54-BP EX DEL, AS, AG-TG
COL2A1, 1-BP DEL, EX40
COL2A1, 1-BP DEL, EX50
COL2A1, 2-BP DEL, 4274GT
COL2A1, IVS17, A-G, -2
COL4A3, 5-BP DEL, NT4414
COL4A3, ALU INS, EX6
COL4A3, IVS21DS, G-A, -1
COL4A5 insertion
COL4A5, 10-15-KB INS, 40-KB DEL
COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION
COL4A5, 38-KB DEL
COL4A5, 450-KB DEL
COL4A5, EX5-10DEL
COL4A5:c.142-?_231+?del(p.Gly48_Lys77del)
COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)
COL4A5:c.3554-?_3604+?del (p.?)
COL4A5:c.3791-?_3924+?del (p.?)
COL4A5:c.82-?_141+?del (p.Ala28_Lys47del)
DFNB31, IVS2DS, G-A, +1
DIAPH3, -172G-A
ERCC2, 2-BP DEL, 1781TT
ERCC2, 3-BP DEL/6-BP INS, NT1823
ERCC2, 4-BP DEL, NT668
ERCC3, IVS14AS, C-A, -6
ERCC5, 1-BP DEL, 2170A
ERCC6, 4-BP INS, 1053TGTC
ERCC8, 279-BP DEL, 81-BP DEL
ESRRB, 7-BP DUP, NT1018
EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC
EYA1, 1-BP INS, 387T
EYA1, 2-BP INS, 870GT
EYA1, 8-BP DEL, NT297
EYA1, ALU INS, EX10
EYA4, 2-BP INS, 1468AA
EYA4, 2-BP INS, 1490AA
EYA4, 2200C-T
EYA4, IVS14, 1282-12T-A
FRAS1, 1-BP INS, 5605T
GATA3, 12-BP DEL, NT946-957
GATA3, 2-BP INS, 3-BP INS
GATA3, 250-KB DEL
GATA3, 49-BP DEL, NT465-513
GATA3, 900-KB DEL
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GPSM2, 1-BP DEL, 1473G
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
GRCh37/hg19 13q12.11(chr13:20803674-21030220)
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
GRCh37/hg19 17p12(chr17:14215739-15422582)
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
GRCh37/hg19 22q13.1(chr22:38155164-38541997)
GRCh37/hg19 2q36.1(chr2:222199886-222298997)
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
GSDME, INS/DEL, EX8DEL
GSMDE, 3-BP DEL, IVS7, -17CTT
HARS2, VAL368LEU
HGF, 10-BP DEL, NT482+1991
HGF, 3-BP DEL, 1986TGA
KCNQ1, IVS1
MARVELD2, IVS4DS, T-C, +2
MYO7A, 1-BP INS, EX28
MYO7A, 9-BP DEL, EX22
MYO7A, IVS27AS, G-C, -1
Multiple alleles
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NC_000004.11:g.(?_123663028)_(124235239_?)del
NC_000004.11:g.(?_123977532)_(123978453_?)del
NC_000004.11:g.(?_124011714)_(124011880_?)del
NC_000004.12:g.(?_123056367)_(123057308_?)del
NC_000004.12:g.(?_123056387)_(123057288_?)del
NC_000004.12:g.78268671_78298757del
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.9:g.(?_118788261)_(118807405_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NC_000005.9:g.(?_149776191_149778631del
NC_000005.9:g.60164820_60244992del
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_71199320)_(71356506_?)del
NC_000008.11:g.(?_71244583)_(71244712_?)del
NC_000008.11:g.(?_71244583)_(71322288_?)del
NC_000008.11:g.(?_71269720)_(71269843_?)del
NC_000008.11:g.(?_71269720)_(71271917_?)del
NC_000009.11:g.71704982_71840362dup
NC_000009.11:g.71705804_71974823invdup
NC_000010.10:g.(55839185_55849743)_(55892768_55912859)del
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000013.10:g.(?_20797176_21105944del
NC_000013.11:g.20365207_20496559del
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NC_000015.10:g.(?_43638998)_(43639062_?)del
NC_000015.9:g.(43886857_43888004)_(43984930_43992627)del
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.10:g.(?_51137092)_(51151261_?)del
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000018.9:g.73376178_78077248del4701071
NC_000018.9:g.76841645_78077248del1235604
NC_000018.9:g.76854774_78077248del1222475
NC_000018.9:g.77421290_77904990del483701
NC_000018.9:g.77733765C>A rs727502793
NC_000018.9:g.77748262delA rs727502795
NC_000018.9:g.77748356G>A rs727502794
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748454_19748649del
NC_000022.10:g.(?_29083885)_(30337586_?)del
NC_000022.10:g.(?_29999982)_(30090797_?)del
NC_000022.10:g.(?_29999988)_(30077600_?)del
NC_000022.10:g.(?_29999988)_(30090791_?)del
NC_000022.10:g.(?_30051485_30051628del
NC_000022.10:g.29758984_29815476del
NC_000022.10:g.[30057723_30063344del;30063345_30067790del]
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)del
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29671816)_(29678333_?)del
NC_000022.11:g.(?_29673259)_(29673496_?)del
NC_000022.11:g.29600322_29604002del
NC_000023.10:g.(?_107681416)_(107939608_?)del
NC_000023.11:g.(?_101346475)_(101348757_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NC_000023.11:g.153696346_153701690del
NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.14710G>A rs1603224840
NC_012920.1(MT-CYB):m.14739G>A rs1603224850
NC_012920.1(MT-CYB):m.15915G>A rs1603225588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4298G>A rs1603219395
NC_012920.1(MT-CYB):m.5536_5537insT rs1603220010
NC_012920.1(MT-CYB):m.5538G>A rs1603220012
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.14692A>G rs879192165
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3380G>A rs1603218926
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.7443A>G rs397507452
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7445A>T rs199474818
NC_012920.1:m.7462C>T rs1569484151
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7505T>C rs724159989
NC_012920.1:m.827A>G rs28358569
NC_012920.1:m.8483_13459del4977
NC_012920.1:m.8969G>A rs794726857
NDP, 1-BP DEL
NG_007083.1:g.371658_507674del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_012130.1:g.(?_5165)_(7623_?)del
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) rs770499406
NM_000082.3(ERCC8):c.78-2A>T rs748379243
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000082.4(ERCC8):c.173+1119G>C rs1043679457
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000091.4(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.4(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000091.4(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) rs1559909384
NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) rs1574813382
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252
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.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) rs1057519376
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) rs1207493576
NM_000091.5(COL4A3):c.1505-2A>C rs1247804051
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs)
NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) rs1574803208
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs) rs1057516204
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) rs1574823188
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.4(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs) rs1575714693
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.4(COL4A4):c.755G>T (p.Gly252Val) rs760795817
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.1221del (p.Pro409fs) rs1576457876
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA rs1576812577
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
NM_000092.5(COL4A4):c.3214+1G>T
NM_000092.5(COL4A4):c.4426C>T (p.Gln1476Ter)
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
NM_000092.5(COL4A4):c.4508del (p.His1503fs)
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs) rs1575696646
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
NM_000092.5(COL4A4):c.558+1G>A
NM_000092.5(COL4A4):c.559-2A>C
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) rs1576571835
NM_000092.5(COL4A4):c.735+2T>C
NM_000092.5:c.1205_1369del
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000122.1(ERCC3):c.471+1G>A rs1558964705
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.543+4del rs527236039
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000124.4(ERCC6):c.972dup (p.Glu325fs) rs387906262
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.47A>T (p.His16Leu) rs1602348610
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) rs1602349535
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000218.2(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) rs397515637
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000219.4:c.[172A>C;176T>C] rs281865421
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587
NM_000260.4(MYO7A):c.133-2A>G rs782064437
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1563del (p.Asp521fs) rs1064794012
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.1845del (p.Lys615fs) rs886037762
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg)
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) rs121965083
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416
NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) rs878853378
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro)
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.4153-2A>G rs1060499803
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) rs1565455391
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) rs121965079
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.4852+1G>A
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) rs1555102843
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317
NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter)
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.565_566del (p.Val189fs) rs1060499651
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.4(MYO7A):c.6211C>T (p.Gln2071Ter) rs1060499802
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) rs1555062984
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) rs121965081
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.4(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.4(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.4(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1079T>C (p.Leu360Pro) rs74315492
NM_000268.4(NF2):c.10del (p.Ala4fs)
NM_000268.4(NF2):c.1162del (p.Ala388fs)
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter)
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter)
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)
NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) rs74315494
NM_000268.4(NF2):c.1613dup (p.Leu539fs)
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter)
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+2T>C
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
NM_000268.4(NF2):c.240+1G>A
NM_000268.4(NF2):c.240+1G>C
NM_000268.4(NF2):c.240+2T>C
NM_000268.4(NF2):c.241-2A>G
NM_000268.4(NF2):c.251dup (p.His84fs)
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.320_321del (p.Glu107fs)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.375_376del (p.Gln125fs)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.432del (p.Ser143_Tyr144insTer)
NM_000268.4(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.457dup (p.Tyr153fs)
NM_000268.4(NF2):c.470_479dup (p.Gly161fs)
NM_000268.4(NF2):c.481G>T (p.Gly161Ter)
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
NM_000268.4(NF2):c.544G>T (p.Glu182Ter) rs74315495
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.58A>T (p.Lys20Ter)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)
NM_000268.4(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.679A>T (p.Lys227Ter)
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000268.4(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2714G>T (p.Cys905Phe) rs886037782
NM_000287.4(PEX6):c.275T>G (p.Val92Gly) rs886037780
NM_000287.4(PEX6):c.296G>T (p.Arg99Leu) rs886037781
NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000307.4(POU3F4):c.896delA (p.Lys299Serfs) rs267606974
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) rs780027419
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) rs1569280385
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) rs1554136123
NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) rs1562347303
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) rs1554138811
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs) rs1581223107
NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) rs1554080460
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs) rs587776585
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) rs1554081168
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000400.3(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.3(ERCC2):c.184-1G>T rs1568546120
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
NM_000400.4(ERCC2):c.2048G>A rs758439420
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs)
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.58+1G>C
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu)
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1149+1del rs1060499807
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1264-12T>A
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1615-2A>G
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) rs121908360
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) rs1554361584
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) rs1584344549
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) rs1584344687
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.415+2T>C
NM_000441.2(SLC26A4):c.415+7A>G rs765884316
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) rs431905486
NM_000466.3(PEX1):c.1239+1G>T rs756876301
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter) rs863225085
NM_000495.3(COL4A5):c.(3246+1_3247-1)_(3373+1_3374-1)deldel (p.(?))
NM_000495.3(COL4A5):c.1-?_3246+?del
NM_000495.3(COL4A5):c.2918-?_5058+?del
NM_000495.3(COL4A5):c.3374-?_5058+?del
NM_000495.3(COL4A5):c.3605-?_5058+?del
NM_000495.3(COL4A5):c.4689-?_5058+?del
NM_000495.4(COL4A5):c.(?_-202)_(81_?)del
NM_000495.4(COL4A5):c.1033-?_1516+?del
NM_000495.4(COL4A5):c.1166-?_1423+?del
NM_000495.4(COL4A5):c.1166-?_1516+?del
NM_000495.4(COL4A5):c.1166-?_2041+?del
NM_000495.4(COL4A5):c.142-?_2677+?del
NM_000495.4(COL4A5):c.142-?_3373+?del
NM_000495.4(COL4A5):c.1949-?_3373+?del
NM_000495.4(COL4A5):c.2147-?_2767+?dup621
NM_000495.4(COL4A5):c.2147delG (p.Gly716Alafs) rs104886162
NM_000495.4(COL4A5):c.232-?_2041+?del
NM_000495.4(COL4A5):c.232-?_4510+?del
NM_000495.4(COL4A5):c.232-?_780+?del
NM_000495.4(COL4A5):c.2510-1_2554del rs1569497680
NM_000495.4(COL4A5):c.2510del (p.Gly837Valfs) rs104886181
NM_000495.4(COL4A5):c.2678-?_3246+?del
NM_000495.4(COL4A5):c.277-?_609+?del
NM_000495.4(COL4A5):c.3017-?_3246+?del
NM_000495.4(COL4A5):c.3247-?_5058+?del
NM_000495.4(COL4A5):c.3374-?_3790+?del
NM_000495.4(COL4A5):c.3791-?_4198+?del
NM_000495.4(COL4A5):c.3791-?_4510+?del
NM_000495.4(COL4A5):c.3925-?_4069+?del
NM_000495.4(COL4A5):c.3925-?_4198+?del
NM_000495.4(COL4A5):c.440del (p.Gly147Aspfs) rs104886053
NM_000495.4(COL4A5):c.547dup (p.Leu184Profs) rs104886432
NM_000495.4(COL4A5):c.610_628del (p.Gly204Aspfs) rs104886435
NM_000495.4(COL4A5):c.647_648dup (p.Asn217Glyfs) rs104886438
NM_000495.4(COL4A5):c.648dup (p.Asn217Glufs) rs104886438
NM_000495.4(COL4A5):c.689del (p.Gly230Valfs) rs104886077
NM_000495.4(COL4A5):c.781-?_1423+?del
NM_000495.4(COL4A5):c.82-?_1165+?del
NM_000495.4(COL4A5):c.82-?_1516+?del
NM_000495.4(COL4A5):c.82-?_2395+?del
NM_000495.4(COL4A5):c.82-?_3246+?del
NM_000495.4(COL4A5):c.82-?_3373+?del
NM_000495.4(COL4A5):c.82-?_465+?del
NM_000495.4(COL4A5):c.937-?_990+?del (p.Gly313_Lys330del)
NM_000495.5(COL4A5):c.(?_-202)_(81_?)del
NM_000495.5(COL4A5):c.(?_1-1)(81+1_82-1)del
NM_000495.5(COL4A5):c.1060dup (p.Thr354fs) rs281874655
NM_000495.5(COL4A5):c.1062dup (p.Ile355fs) rs104886316
NM_000495.5(COL4A5):c.1213dup (p.Arg405fs) rs281874659
NM_000495.5(COL4A5):c.1376dup (p.Gly460fs) rs104886113
NM_000495.5(COL4A5):c.1757_1770del (p.Leu586fs) rs281874678
NM_000495.5(COL4A5):c.2165G>A (p.Gly722Glu) rs104886163
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.5(COL4A5):c.2708dup (p.Pro904fs) rs104886362
NM_000495.5(COL4A5):c.3326_3327insT (p.Gly1110fs) rs397515492
NM_000495.5(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237
NM_000495.5(COL4A5):c.3692del (p.Pro1231fs) rs104886254
NM_000495.5(COL4A5):c.3692dup (p.Gly1232fs) rs104886254
NM_000495.5(COL4A5):c.3710_3761del (p.Pro1237fs) rs104886393
NM_000495.5(COL4A5):c.65_77del (p.Gln22fs) rs281874760
NM_000495.5(COL4A5):c.875del (p.Gly292fs) rs281874768
NM_000503.5:c.557del
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) rs1554615536
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1050+1G>T
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1140+1G>T
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)
NM_000503.6(EYA1):c.1200-1G>A rs1563634200
NM_000503.6(EYA1):c.1259del (p.Leu420fs)
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs) rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) rs1585817892
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) rs1585812463
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1476-2A>T
NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) rs606231356
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1598-2A>G
NM_000503.6(EYA1):c.1635del (p.Phe545fs)
NM_000503.6(EYA1):c.1644del (p.Val549fs)
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) rs1481254965
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.1698+1G>T
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter)
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)
NM_000503.6(EYA1):c.532del (p.Ala178fs) rs1554548840
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) rs529483320
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.806del (p.Ala269fs)
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.929del (p.Asn310fs)
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu) rs74315388
NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn) rs121909347
NM_000601.6(HGF):c.495G>A (p.Ser165=) rs137853235
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg) rs864309654
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer) rs864309653
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter)
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn) rs1554571213
NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) rs387906621
NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) rs104894165
NM_001002295.2(GATA3):c.108_109del (p.Met36fs) rs1588374920
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.324del (p.Ala109fs)
NM_001002295.2(GATA3):c.389del (p.Leu130fs)
NM_001002295.2(GATA3):c.431del (p.Gly144fs) rs1588377948
NM_001002295.2(GATA3):c.431dup (p.His145fs)
NM_001002295.2(GATA3):c.478del (p.Asp160fs) rs1588378126
NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) rs878853222
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)
NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs)
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) rs104894163
NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) rs104894162
NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC rs387906551
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)
NM_001007233.2(ERCC8):c.-252del rs786205176
NM_001008388.4(CISD2):c.(104_304)-84_318+724del
NM_001008388.5(CISD2):c.103+1G>A rs1578307302
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) rs63749888
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088
NM_001031679.3(MSRB3):c.391-1G>A rs751906778
NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter) rs149258390
NM_001037582.3(SCD5):c.626G>C (p.Trp209Ser)
NM_001038603.2(MARVELD2):c.1331+4_1331+7delAGTG
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs)
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter) rs727503528
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser) rs1198256157
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro) rs387907149
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg) rs876661405
NM_001039213.4(CEACAM16):c.662-1G>C rs1568528171
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064
NM_001039803.2(CDK20):c.564G>A (p.Trp188Ter) rs1057519438
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) rs1555817157
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) rs1555813914
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) rs587777603
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) rs397704714
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs)
NM_001042702.5(PJVK):c.113dup (p.Lys41fs) rs1559365985
NM_001042702.5(PJVK):c.122del (p.Lys41fs) rs1559366000
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) rs118203988
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001042702.5(PJVK):c.988del (p.Val330fs) rs1559372640
NM_001046.3(SLC12A2):c.2930-2A>G rs1581138932
NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) rs1581138934
NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys)
NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) rs1581138944
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) rs1581138965
NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser)
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Asp122_Thr123insAlaArgHisArg) rs1592047560
NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter) rs1064797092
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys)
NM_001080476.2(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080476.2(GRXCR1):c.385-2A>G rs771844359
NM_001080476.2(GRXCR1):c.412C>T (p.Arg138Cys) rs267606856
NM_001080476.2(GRXCR1):c.627+19A>T rs201824235
NM_001080476.2(GRXCR1):c.628-9C>A rs606231120
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
NM_001080516.1(GRXCR2):c.714dup (p.Gly239fs) rs587777424
NM_001084.5(PLOD3):c.2071del (p.Cys691fs) rs786205872
NM_001084.5(PLOD3):c.668A>G (p.Asn223Ser) rs121434414
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
NM_001110556.2(FLNA):c.5162del (p.Val1721fs)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) rs1458799604
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) rs104894388
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) rs104894390
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del) rs749994718
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.3(AP1B1):c.38-1G>A rs1602761438
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127500.3(MET):c.2575T>G (p.Phe859Val) rs794728016
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) rs387906220
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) rs1564386891
NM_001128431.4(SLC39A14):c.1322T>G (p.Leu441Arg) rs1554520924
NM_001128840.3(CACNA1D):c.1220+597C>T rs759274321
NM_001128840.3(CACNA1D):c.1220+678_1220+679insGGG rs398122827
NM_001130089.1(KARS1):c.1129G>A (p.Asp377Asn) rs397514746
NM_001130089.1(KARS1):c.1438del (p.Leu480fs) rs1567498374
NM_001130089.1(KARS1):c.517T>C (p.Tyr173His) rs397514745
NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) rs199473691
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) rs397509391
NM_001130823.3(DNMT1):c.4490-1G>C
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser) rs587777040
NM_001142769.3(PCDH15):c.4726C>T (p.Gln1576Ter) rs1056396947
NM_001142966.2(GREB1L):c.347C>T (p.Thr116Ile)
NM_001142966.2(GREB1L):c.848A>G (p.Asn283Ser)
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His) rs1555661490
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter) rs1555648043
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter)
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549
NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185
NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg) rs137853186
NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) rs137853187
NM_001145308.4(LRTOMT):c.333C>G (p.Tyr111Ter) rs137853188
NM_001145308.4(LRTOMT):c.358+4A>C rs545947177
NM_001145308.4(LRTOMT):c.614_617dup (p.Ser207fs) rs797044907
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) rs1577876794
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg) rs1577888561
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) rs1577888985
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1017+572C>T rs1559985787
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter) rs119103279
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser) rs28940307
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe) rs28940306
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) rs371100799
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001146079.2(CLDN14):c.398del (p.Met133fs) rs786200885
NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter)
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr) rs869320722
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys) rs121909393
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val) rs121909396
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) rs869320721
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro) rs121909395
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) rs775633137
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) rs1564634581
NM_001195263.2(PDZD7):c.1207del (p.His403fs) rs1554835103
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) rs1554834186
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr)
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) rs797044549
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) rs797044547
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199107.2(TBC1D24):c.965+1G>A
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) rs387907015
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) rs1559875009
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)
NM_001199799.2(ILDR1):c.942C>A (p.Cys314Ter) rs752714222
NM_001199799.2(ILDR1):c.9G>A (p.Trp3Ter)
NM_001204402.1(PRPS1):c.-159T>C rs869025594
NM_001204402.1(PRPS1):c.-82-2793G>C rs398122855
NM_001204402.1(PRPS1):c.-82-4220C>G rs587777150
NM_001204402.1(PRPS1):c.-82-5746G>A rs180177152
NM_001204402.1(PRPS1):c.-82-5812G>A rs180177151
NM_001204425.1(BIVM-ERCC5):c.1451-5769C>A rs267607281
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) rs786205882
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335
NM_001256447.2(BCAP31):c.-44-270C>A rs1057518721
NM_001256447.2(BCAP31):c.194-2A>G rs879255569
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter) rs1603223001
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) rs397515620
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001260494.1(RDX):c.60-5775C>T rs121918380
NM_001260496.1(RDX):c.405-1415dup rs1372141763
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His) rs548137246
NM_001277269.1(OTOG):c.330C>G (p.Tyr110Ter) rs574007567
NM_001277269.1(OTOG):c.5508del (p.Ala1838fs) rs1029389440
NM_001277269.1(OTOG):c.6347C>T (p.Pro2116Leu) rs397514607
NM_001277269.1(OTOG):c.6559C>T (p.Arg2187Ter) rs397514608
NM_001277269.1(OTOG):c.7453C>T (p.Arg2485Ter) rs866476223
NM_001278649.2(OSBPL2):c.-184-3532_-184-3531del rs786205881
NM_001283.5(AP1S1):c.183-2A>G rs751430853
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001286445.3(RIPOR2):c.189-1G>A rs875989828
NM_001290285.1(ERCC8):c.-61_-58dup rs1580023012
NM_001290285.1(ERCC8):c.-65_-64del rs1404477615
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_001301130.2(POLR2F):c.293+6519_293+6523del rs1569167586
NM_001301130.2(POLR2F):c.293+6787G>C rs74315516
NM_001301130.2(POLR2F):c.293+6813del rs397515372
NM_001301130.2(POLR2F):c.293+6974G>T rs74315518
NM_001301130.2(POLR2F):c.293+6978G>A rs74315521
NM_001301130.2(POLR2F):c.294-2618G>C rs73415876
NM_001301130.2(POLR2F):c.294-8060G>A rs121909117
NM_001301130.2(POLR2F):c.294-8073_294-8072insAGGAGC rs397515366
NM_001301130.2(POLR2F):c.294-8155C>A rs74315514
NM_001301130.2(POLR2F):c.294-8211G>C rs281797260
NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln) rs139895222
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu)
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser)
NM_001305563.1(TXNL4A):c.-60-10914_-60-10880del
NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]
NM_001316690.1(CHD7):c.1716+235_1716+236delinsT rs1563595095
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_001354604.2(MITF):c.1000dup (p.Leu334fs) rs1576047519
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro) rs104893744
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1145del (p.Glu382fs) rs1553705282
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
NM_001354604.2(MITF):c.1208del (p.Gly403fs) rs878853234
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)
NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
NM_001354604.2(MITF):c.1377del (p.Asn459fs)
NM_001354604.2(MITF):c.355-1066G>A rs1553701477
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
NM_001354604.2(MITF):c.763-2A>C rs1553703612
NM_001354604.2(MITF):c.808C>T (p.Leu270=)
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn) rs1057519325
NM_001354604.2(MITF):c.951C>G (p.Asn317Lys) rs104893745
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs)
NM_001354604.2(MITF):c.969_973del (p.Arg323fs)
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly) rs1057519326
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_001354689.3(RAF1):c.1516G>A (p.Asp506Asn) rs80338798
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001366722.1(GRIP1):c.1337_1340del (p.Lys446fs) rs397514486
NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter)
NM_001366722.1(GRIP1):c.2269+1G>C rs397514485
NM_001370524.1(TMIE):c.-38_-35del rs876661301
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
NM_001371623.1(TCOF1):c.1866_1873del (p.Glu622fs)
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
NM_001371623.1(TCOF1):c.2142+1del
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) rs1581136492
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
NM_001371623.1(TCOF1):c.3784+1G>C
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys) rs200157211
NM_001378454.1(ALMS1):c.10292_10293insT (p.Ile3432fs)
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10385-2A>G
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs)
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter)
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11668+1G>A
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs)
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs)
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs)
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.2218del (p.Thr741fs)
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter)
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs)
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter)
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter)
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter)
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter)
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7334dup (p.Asn2445fs)
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer)
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_001378457.1(DMXL2):c.918G>T (p.Gln306His)
NM_001379200.1(TBX1):c.1096del (p.Asp366fs)
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs)
NM_001384140.1(PCDH15):c.4368-1895_4368-1893del rs113363047
NM_001384474.1(LOXHD1):c.3351-1G>A
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) rs1343140353
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) rs104894547
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) rs28999111
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746
NM_001692.4(ATP6V1B1):c.91C>T (p.Arg31Ter) rs121964879
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) rs794729667
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) rs1045330263
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) rs1025202963
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) rs672601355
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) rs121912896
NM_001844.5(COL2A1):c.1680+1G>A rs1057524696
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) rs121912898
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) rs1565679039
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) rs1555166218
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) rs1592202517
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3166-1G>A rs1555165204
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) rs672601354
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) rs1592196744
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) rs1481453913
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) rs1555164735
NM_001844.5(COL2A1):c.3886+2T>C rs1592196064
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) rs1592233968
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) rs121912869
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.709-2A>G rs1592232116
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) rs121912872
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) rs121912894
NM_001851.5(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001851.6(COL9A1):c.2644del (p.Val882fs)
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
NM_001854.4(COL11A1):c.494A>T (p.His165Leu)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.652-2A>C rs747787770
NM_001888.5(CRYM):c.941A>C (p.Lys314Thr) rs104894512
NM_001888.5(CRYM):c.945A>T (p.Ter315Tyr) rs104894509
NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe) rs786205230
NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys) rs876657388
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_002010.3(FGF9):c.184A>G (p.Arg62Gly) rs1555223925
NM_002010.3(FGF9):c.296G>A (p.Ser99Asn) rs121918322
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile) rs776300630
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052
NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser) rs431905513
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) rs137853066
NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu) rs757159382
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) rs137853072
NM_002241.5(KCNJ10):c.321_322del (p.Val109fs)
NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg) rs137853068
NM_002241.5(KCNJ10):c.491C>T (p.Thr164Ile) rs137853069
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002241.5(KCNJ10):c.775del (p.Val258_Val259insTer) rs1557967748
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002473.5(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.5(MYH9):c.5137A>G (p.Ser1713Gly) rs764139009
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002645.3(PIK3C2A):c.(?_1-1)_4007+1_4008-1)del
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002700.3(POU4F3):c.184del (p.Ala62fs)
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) rs1064792854
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) rs121909057
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) rs121909056
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) rs398124631
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.3(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.3(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002906.3(RDX):c.1732G>A (p.Asp578Asn) rs121918379
NM_002906.3(RDX):c.551+2T>C rs1591158999
NM_002906.3(RDX):c.698+1G>A rs1191259480
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter)
NM_002906.4(RDX):c.129G>A (p.Trp43Ter)
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) rs373442996
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) rs1057517675
NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) rs1085307143
NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) rs104894535
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) rs137853084
NM_002968.2(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.2(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.2(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.1027dup (p.Ile343fs)
NM_002968.3(SALL1):c.1028dup (p.Leu344fs)
NM_002968.3(SALL1):c.1270del (p.Gln424fs) rs1597230349
NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs) rs1597230341
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1347_1348del (p.His449fs) rs1597230241
NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs)
NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) rs1597228568
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.3(SALL1):c.420del (p.Ser141fs)
NM_002968.3(SALL1):c.750dup (p.Arg251fs)
NM_002968.3(SALL1):c.792_793del (p.Leu264fs) rs1597230909
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs)
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs)
NM_002968.3(SALL1):c.995del (p.Pro332fs) rs1597230687
NM_003047.5(SLC9A1):c.862del (p.Ile288fs)
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) rs786204831
NM_003611.2(OFD1):c.(?_-311)_1542+?del
NM_003611.2(OFD1):c.(?_-359)_(*253_?)del
NM_003611.2(OFD1):c.(?_-360)_828+?del
NM_003611.2(OFD1):c.1222-?_(*_?)del
NM_003611.2(OFD1):c.2261-?_2387+?del
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) rs312262823
NM_003611.2(OFD1):c.518-?_935+?del
NM_003611.2(OFD1):c.936-?_1129+?del
NM_003611.2:c.1051-2>G
NM_003611.2:c.1056C>G
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.1056-2A>T rs312262861
NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) rs312262862
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.111+2T>G
NM_003611.3(OFD1):c.111G>A (p.Lys37=) rs312262808
NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) rs312262808
NM_003611.3(OFD1):c.1130-22_1130-19del rs312262865
NM_003611.3(OFD1):c.1178dup (p.Glu394fs) rs312262866
NM_003611.3(OFD1):c.1185del (p.Glu395fs) rs312262867
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1220_1221+1del rs312262869
NM_003611.3(OFD1):c.1221+1del rs312262870
NM_003611.3(OFD1):c.1246del (p.Gln416fs) rs886039813
NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs) rs312262871
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer) rs312262872
NM_003611.3(OFD1):c.1319del (p.Leu440fs) rs312262873
NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs) rs312262874
NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs) rs312262875
NM_003611.3(OFD1):c.1334_1335del (p.Leu445fs) rs312262876
NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter) rs312262877
NM_003611.3(OFD1):c.1358_1362del (p.Lys452_Leu453insTer)
NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs) rs312262878
NM_003611.3(OFD1):c.1409del (p.Asn470fs) rs312262879
NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) rs312262880
NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) rs312262881
NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) rs312262882
NM_003611.3(OFD1):c.147dup (p.His50fs) rs886039858
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213
NM_003611.3(OFD1):c.1587del (p.Ala530fs) rs312262883
NM_003611.3(OFD1):c.1612C>T (p.Gln538Ter) rs886039864
NM_003611.3(OFD1):c.162_166del (p.Ser54fs) rs312262811
NM_003611.3(OFD1):c.1757del (p.Ser586fs) rs312262884
NM_003611.3(OFD1):c.1821del (p.Ile608fs) rs312262885
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.1979_1980del (p.Ser660fs) rs312262887
NM_003611.3(OFD1):c.1980dup (p.Ala661fs)
NM_003611.3(OFD1):c.1991dup (p.Leu665fs) rs886039865
NM_003611.3(OFD1):c.2044dup (p.Ile682fs) rs312262888
NM_003611.3(OFD1):c.2056del (p.Ser686fs) rs312262889
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2176del (p.Arg726fs) rs312262891
NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) rs312262812
NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) rs312262813
NM_003611.3(OFD1):c.2261-1G>T rs312262892
NM_003611.3(OFD1):c.2289dup (p.Ser764fs)
NM_003611.3(OFD1):c.2349del (p.Ile784fs) rs312262893
NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) rs312262814
NM_003611.3(OFD1):c.241C>G (p.His81Asp) rs312262815
NM_003611.3(OFD1):c.243C>G (p.His81Gln) rs312262816
NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) rs312262817
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs)
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) rs312262819
NM_003611.3(OFD1):c.275_276del (p.Ser92fs) rs886039859
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) rs312262820
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+3_312+9del rs397507557
NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) rs312262825
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) rs312262826
NM_003611.3(OFD1):c.382-2A>G rs312262829
NM_003611.3(OFD1):c.382-3C>G rs312262828
NM_003611.3(OFD1):c.384_412+2del
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.411del (p.Gly138fs) rs312262831
NM_003611.3(OFD1):c.412+2del rs312262832
NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) rs312262827
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) rs312262835
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.43_44del (p.Gln16fs) rs312262806
NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) rs312262836
NM_003611.3(OFD1):c.508_509del (p.Asp170fs) rs886039861
NM_003611.3(OFD1):c.518-1G>A rs886039862
NM_003611.3(OFD1):c.52G>T (p.Glu18Ter) rs886039857
NM_003611.3(OFD1):c.541dup (p.Asp181fs) rs886039863
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)
NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) rs312262837
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)
NM_003611.3(OFD1):c.602del (p.Asn201fs) rs312262838
NM_003611.3(OFD1):c.616_617del (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) rs312262839
NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) rs312262841
NM_003611.3(OFD1):c.62_63insT (p.Lys21fs) rs886039856
NM_003611.3(OFD1):c.653del (p.Lys218fs) rs312262842
NM_003611.3(OFD1):c.654+2_654+4del rs397507558
NM_003611.3(OFD1):c.65dup (p.Leu23fs) rs312262807
NM_003611.3(OFD1):c.675del (p.Glu226fs) rs312262844
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.707_719del (p.Lys236fs) rs312262846
NM_003611.3(OFD1):c.709_710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.712del (p.Tyr238fs) rs312262849
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.790dup (p.Glu264fs) rs312262850
NM_003611.3(OFD1):c.794dup (p.Ser266fs)
NM_003611.3(OFD1):c.823C>T (p.Gln275Ter) rs312262851
NM_003611.3(OFD1):c.839_840del (p.Lys280fs) rs312262852
NM_003611.3(OFD1):c.840_844del (p.Lys280fs) rs312262853
NM_003611.3(OFD1):c.843_844del (p.Glu281fs) rs312262855
NM_003611.3(OFD1):c.858del (p.Arg286fs) rs312262856
NM_003611.3(OFD1):c.871A>T (p.Lys291Ter) rs312262857
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.898_899dup (p.Ala301fs) rs312262859
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_003611.3(OFD1):c.919del (p.Val307fs) rs312262860
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) rs1571346132
NM_003672.4(CDC14A):c.376del (p.Tyr126fs) rs759201338
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) rs771622183
NM_003672.4(CDC14A):c.839-3C>G rs1553191001
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.170-1G>T rs1135401744
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) rs111033335
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.137_141del (p.Asp46fs)
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) rs886037625
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.314_329del (p.Lys105fs) rs797045596
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) rs1555341931
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) rs375759781
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) rs121909137
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) rs121909138
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
NM_004085.4(TIMM8A):c.116del (p.Met39fs) rs869320664
NM_004085.4(TIMM8A):c.127del (p.Cys43fs) rs869320667
NM_004085.4(TIMM8A):c.133-23A>C rs869320666
NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs) rs869320733
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) rs1054894
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) rs111033631
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) rs869320665
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) rs121908932
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.197T>G (p.Val66Gly) rs121908927
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.292C>T (p.Arg98Ter) rs756790858
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.984_985dup (p.Phe329fs)
NM_004100.5(EYA4):c.1720_1722delTACinsAAA
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) rs869312749
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) rs869312750
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.427-1G>A rs770084126
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004357.5(CD151):c.382dup (p.Asp128fs) rs1565118389
NM_004357.5(CD151):c.493C>T (p.Arg165Ter)
NM_004357.5(CD151):c.[19A>T;622_630del]
NM_004403.3(GSDME):c.1183+4A>G rs1562687295
NM_004403.3(GSDME):c.991-6C>G rs1562687726
NM_004447.6(EPS8):c.1435-2A>T
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter) rs587777691
NM_004452.3(ESRRB):c.1024G>T (p.Val342Leu) rs121909111
NM_004452.3(ESRRB):c.329C>T (p.Ala110Val) rs121909110
NM_004452.3(ESRRB):c.545G>A (p.Arg182His) rs1060499794
NM_004452.3(ESRRB):c.787G>A (p.Gly263Ser) rs375916159
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys) rs375851208
NM_004568.5(SERPINB6):c.733G>T (p.Glu245Ter) rs267607037
NM_004700.4(KCNQ4):c.1044_1051del (p.Ala349Profs) rs797044972
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004700.4(KCNQ4):c.2039C>T (p.Ser680Phe) rs772135867
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.228_229dup (p.His77fs) rs1553165199
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) rs1557977732
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) rs80358273
NM_004700.4(KCNQ4):c.689T>A (p.Val230Glu) rs797044965
NM_004700.4(KCNQ4):c.778G>A (p.Glu260Lys) rs80358274
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) rs1558014576
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.808T>C (p.Tyr270His) rs797044967
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) rs80358276
NM_004700.4(KCNQ4):c.823T>C (p.Trp275Arg) rs797044968
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_004700.4(KCNQ4):c.871C>T (p.Pro291Ser) rs797044969
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) rs80358279
NM_004700.4(KCNQ4):c.891G>T (p.Arg297Ser) rs797044971
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710
NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro) rs864309524
NM_004839.4(HOMER2):c.799_803del (p.Pro267fs)
NM_004839.4(HOMER2):c.807dup (p.Met270fs)
NM_004895.4(NLRP3):c.1064T>C (p.Leu355Pro) rs28937896
NM_004895.4(NLRP3):c.2759G>A (p.Arg920Gln) rs1553293095
NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser)
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) rs121912557
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter)
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_004999.4(MYO6):c.2417-1758T>G rs1562283089
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) rs1554218566
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) rs121912558
NM_004999.4(MYO6):c.36dup (p.Thr13fs) rs1562201376
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr) rs1553163562
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) rs1064797096
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005221.6(DLX5):c.533A>C (p.Gln178Pro) rs387906737
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) rs397509403
NM_005236.3(ERCC4):c.1730dupA rs397509404
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.3(ERCC4):c.793-2A>G
NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys) rs281860300
NM_005247.4(FGF3):c.150C>A (p.Cys50Ter) rs281860301
NM_005247.4(FGF3):c.17T>C (p.Leu6Pro) rs121917706
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005247.4(FGF3):c.255del (p.Ile85fs) rs281860302
NM_005247.4(FGF3):c.270dup (p.Leu91fs) rs1554981083
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys) rs281860306
NM_005247.4(FGF3):c.394del (p.Arg132fs) rs281860304
NM_005247.4(FGF3):c.457_458del (p.Trp153fs) rs281860307
NM_005247.4(FGF3):c.466T>C (p.Ser156Pro) rs121917703
NM_005247.4(FGF3):c.616del (p.Val206fs) rs281860305
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005262.3(GFER):c.373C>T (p.Gln125Ter) rs771809901
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192
NM_005360.5(MAF):c.161C>T (p.Ser54Leu) rs727502766
NM_005360.5(MAF):c.172A>G (p.Thr58Ala) rs727502767
NM_005360.5(MAF):c.173C>T (p.Thr58Ile) rs727502769
NM_005360.5(MAF):c.176C>A (p.Pro59His) rs727502770
NM_005360.5(MAF):c.176C>T (p.Pro59Leu) rs727502770
NM_005360.5(MAF):c.185C>G (p.Thr62Arg) rs727502771
NM_005360.5(MAF):c.206C>G (p.Pro69Arg) rs727502768
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005422.2(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.2(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr) rs753896285
NM_005422.2(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531
NM_005422.2(TECTA):c.4856G>C (p.Cys1619Ser) rs121909060
NM_005422.2(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.2(TECTA):c.5331G>A (p.Leu1777=) rs1591462832
NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg) rs121909061
NM_005422.2(TECTA):c.5509T>G (p.Cys1837Gly) rs121909061
NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) rs140236996
NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.2(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005422.2(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005422.2(TECTA):c.6162+5G>A rs1565541888
NM_005422.2(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158
NM_005450.5(NOG):c.103C>T (p.Pro35Ser) rs28937580
NM_005450.5(NOG):c.328C>T (p.Gln110Ter) rs104894614
NM_005450.5(NOG):c.614G>A (p.Trp205Ter) rs1567745119
NM_005450.5(NOG):c.615G>C (p.Trp205Cys) rs104894615
NM_005450.5(NOG):c.649T>G (p.Trp217Gly) rs104894603
NM_005450.5(NOG):c.696C>G (p.Cys232Trp) rs387906844
NM_005450.6(NOG):c.64dup (p.Ala22fs) rs1597919829
NM_005522.4(HOXA1):c.175dup (p.Val59fs) rs769152039
NM_005522.4(HOXA1):c.185del (p.Gly62fs) rs1562700083
NM_005522.4(HOXA1):c.76C>T (p.Arg26Ter) rs104894018
NM_005522.4(HOXA1):c.84C>G (p.Tyr28Ter) rs104894017
NM_005548.2(KARS1):c.1430G>A (p.Arg477His) rs778748895
NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) rs1415687857
NM_005612.5(REST):c.983-2247C>G
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077
NM_005797.4(MPZL2):c.[220C>T];[463del]
NM_005982.4(SIX1):c.317T>G (p.Val106Gly) rs397515560
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) rs397515561
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) rs121909770
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) rs104894478
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.50T>A (p.Val17Glu) rs397515562
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173
NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) rs1578609780
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) rs104893882
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) rs104893879
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) rs28937891
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) rs71524377
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser) rs387906931
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) rs71539673
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) rs104893881
NM_006005.3(WFS1):c.2477G>A (p.Ser826Asn)
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895
NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) rs876657675
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.460+1G>A rs1191510461
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) rs104893880
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006012.4(CLPP):c.624C>G (p.Ile208Met) rs1555719766
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) rs1131691593
NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) rs727502865
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) rs397515412
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476
NM_006701.2:c.Exon 3 deletion
NM_006701.4(TXNL4A):c.258_429del172 (p.Asn87Alafs)
NM_006701.5(TXNL4A):c.153+3A>G rs879255559
NM_006701.5(TXNL4A):c.154-959_257+638del
NM_006735.4(HOXA2):c.556C>A (p.Gln186Lys) rs119489104
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)
NM_006941.3(SOX10):c.1090C>T (p.Gln364Ter) rs1555937400
NM_006941.3(SOX10):c.1129C>T (p.Gln377Ter) rs74315520
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.3(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) rs397515368
NM_006941.3(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.3(SOX10):c.429-1G>A rs1569169328
NM_006941.3(SOX10):c.487C>T (p.Gln163Ter) rs1569169289
NM_006941.3(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs) rs397515367
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.1379del (p.Tyr460fs)
NM_006941.4(SOX10):c.198_262del (p.Lys67fs)
NM_006941.4(SOX10):c.207_208del (p.Cys71fs)
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys) rs1555939403
NM_006941.4(SOX10):c.428+1G>A
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
NM_006941.4(SOX10):c.502del (p.His168fs)
NM_006941.4(SOX10):c.529_556del (p.Arg177fs)
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)
NM_006941.4(SOX10):c.698-740_1085delinsCCT
NM_006941.4(SOX10):c.776_780del (p.Asp259fs)
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM