ClinVar Miner

List of variants studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27617
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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;XX;t(1;13)(q11.2;p11.2)dn
46;XX;t(4;15)(q31.3;q15)
46;XY;inv(2)(q11.2q24.2)dn
46;XY;t(4;14)(p14;q11.2)dn
46;XY;t(5;7)(q14.3;q21.3)dn
46;XY;t(6;11)(p12.3;p14.2)dn
46;XY;t(8;9)(q13;p22)dn
46;Y;inv(X)(q13q24)mat
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 12q21.31(chr12:80696112-80696398)x1
GRCh37/hg19 13q12.11(chr13:20803674-21030220)
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
GRCh37/hg19 15q15.3(chr15:43892948-43895542)x1
GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)
GRCh37/hg19 16p13.3(chr16:6042083-6237086)
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 5q35.3(chr5:179085554-179524010)x3
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.(?_160011163)_(160111132_?)dup
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000001.10:g.216144119_216591855del447737
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000001.11:g.215741537del
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73678717_73689164del
NC_000002.11:g.(?_73679790_73710618del
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73760681_73762027del
NC_000002.11:g.(?_73760681_73762028del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000002.12:g.(?_73603231)_(73609622_?)del
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
NC_000003.11:g.(?_128198104)_(128205221_?)dup
NC_000003.11:g.(?_128198104)_(128205874_?)dup
NC_000003.11:g.(?_128199862)_(128205874_?)dup
NC_000003.11:g.(?_128202693)_(128205884_?)dup
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128481009)_(128487041_?)dup
NC_000003.12:g.(?_128486793)_(128487041_?)del
NC_000003.12:g.12664140G>C
NC_000004.11:g.(?_123663028)_(124235239_?)del
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.11:g.(?_123977532)_(123978453_?)del
NC_000004.11:g.(?_124011714)_(124011880_?)del
NC_000004.11:g.(?_124011724)_(124177345_?)del
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NC_000004.12:g.(?_123056367)_(123057308_?)del
NC_000004.12:g.(?_123056387)_(123057288_?)del
NC_000004.12:g.78268671_78298757del
NC_000005.10:g.(90694702_90696936)_(90829187_90840577)del
NC_000005.10:g.(?_119514971)_(119542004_?)del
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000005.10:g.119452446C>T
NC_000005.10:g.119452457C>G
NC_000005.9:g.(?_118788261)_(118807405_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NC_000005.9:g.(?_136633338)_(140998481_?)dup
NC_000005.9:g.(?_140052489)_(140072312_?)del
NC_000005.9:g.(?_140059894_140070834del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NC_000005.9:g.(?_149776191_149778631del
NC_000005.9:g.140059894_140070834del
NC_000005.9:g.60164820_60244992del
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000007.14:g.107660819C>T
NC_000007.14:g.27096001A>G
NC_000007.14:g.27096002T>C
NC_000007.14:g.27100341G>A
NC_000008.10:g.(?_61653972)_(61655676_?)dup
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_60741413)_(60865953_?)dup
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_000010.10:g.(?_73079047)_(73082831_?)dup
NC_000010.11:g.(?_71645831)_(71646617_?)del
NC_000011.10:g.72080754A>G
NC_000011.10:g.72080785T>C
NC_000011.10:g.77147798del rs1591224147
NC_000012.12:g.112418936G>T
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20797176_21105944del
NC_000013.11:g.20365207_20496559del
NC_000013.11:g.21671064G>T
NC_000014.8:g.(?_60976117)_(61191013_?)dup
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.(?_13821951)_(13937868_?)dup
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_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.14013666A>C
NC_000017.10:g.(?_71189189)_(71189543_?)dup
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_000021.9:g.36460620A>G
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)dup
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)_(30000107_?)dup
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.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30051485_30051628del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.10:g.19743424C>T
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)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29654651)_(29654731_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)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.(152882907_152991027)del
NC_000023.10:g.(152886255_152976269)del
NC_000023.10:g.(152982350_153041544)del
NC_000023.10:g.(?_107681416)_(107939608_?)del
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753185)_(13787232_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_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.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.153696346_153701690del
NC_000023.11:g.57910017_57910018del
NC_012920.1(MT-CYB):m.10003T>C rs1603222620
NC_012920.1(MT-CYB):m.10005A>G rs1603222621
NC_012920.1(MT-CYB):m.10005A>T rs1603222621
NC_012920.1(MT-CYB):m.10006A>G rs1603222622
NC_012920.1(MT-CYB):m.10007T>C rs201906571
NC_012920.1(MT-CYB):m.10008A>G rs1603222626
NC_012920.1(MT-CYB):m.10013C>T rs1603222627
NC_012920.1(MT-CYB):m.10014G>A rs1603222629
NC_012920.1(MT-CYB):m.10015T>C rs28374827
NC_012920.1(MT-CYB):m.10020T>C rs1603222636
NC_012920.1(MT-CYB):m.10027T>C rs1603222638
NC_012920.1(MT-CYB):m.10029A>G rs1603222639
NC_012920.1(MT-CYB):m.10031T>C rs200048690
NC_012920.1(MT-CYB):m.10034T>C rs41347846
NC_012920.1(MT-CYB):m.10040C>T rs1603222642
NC_012920.1(MT-CYB):m.10042A>G rs1603222643
NC_012920.1(MT-CYB):m.10043del rs1603222645
NC_012920.1(MT-CYB):m.10045T>C rs1603222648
NC_012920.1(MT-CYB):m.10048A>G rs878957961
NC_012920.1(MT-CYB):m.10055A>G rs1603222653
NC_012920.1(MT-CYB):m.10405T>C rs1603222825
NC_012920.1(MT-CYB):m.10406G>A rs1603222826
NC_012920.1(MT-CYB):m.10408T>C rs1603222827
NC_012920.1(MT-CYB):m.10410T>A rs200478835
NC_012920.1(MT-CYB):m.10410T>C rs200478835
NC_012920.1(MT-CYB):m.10411A>G rs1603222828
NC_012920.1(MT-CYB):m.10420A>G rs1603222829
NC_012920.1(MT-CYB):m.10427G>A rs1556423809
NC_012920.1(MT-CYB):m.10440T>C rs1603222833
NC_012920.1(MT-CYB):m.10446A>G rs1603222835
NC_012920.1(MT-CYB):m.10448T>C rs1603222836
NC_012920.1(MT-CYB):m.10454T>C rs878874133
NC_012920.1(MT-CYB):m.10455A>G rs1603222840
NC_012920.1(MT-CYB):m.10456A>G rs1603222842
NC_012920.1(MT-CYB):m.10457T>C rs1603222845
NC_012920.1(MT-CYB):m.10460T>C rs1603222848
NC_012920.1(MT-CYB):m.10462T>C rs1603222850
NC_012920.1(MT-CYB):m.10463T>C rs28358279
NC_012920.1(MT-CYB):m.12141A>G rs1603223565
NC_012920.1(MT-CYB):m.12142A>G rs1603223566
NC_012920.1(MT-CYB):m.12143T>C rs1603223568
NC_012920.1(MT-CYB):m.12144A>G rs1603223569
NC_012920.1(MT-CYB):m.12148T>C rs1603223571
NC_012920.1(MT-CYB):m.12150T>C rs1603223574
NC_012920.1(MT-CYB):m.12151A>G rs1603223576
NC_012920.1(MT-CYB):m.12160A>G rs1603223579
NC_012920.1(MT-CYB):m.12161T>C rs386829147
NC_012920.1(MT-CYB):m.12163A>G rs1603223581
NC_012920.1(MT-CYB):m.12164G>A rs1603223582
NC_012920.1(MT-CYB):m.12166T>C rs879126000
NC_012920.1(MT-CYB):m.12171A>G rs1603223589
NC_012920.1(MT-CYB):m.12172A>G rs1556424073
NC_012920.1(MT-CYB):m.12173T>A rs1556424075
NC_012920.1(MT-CYB):m.12173T>C rs1556424075
NC_012920.1(MT-CYB):m.12176G>A rs1603223594
NC_012920.1(MT-CYB):m.12178C>T rs1603223596
NC_012920.1(MT-CYB):m.12181C>T rs1603223598
NC_012920.1(MT-CYB):m.12184A>G rs1603223603
NC_012920.1(MT-CYB):m.12185G>A rs1603223607
NC_012920.1(MT-CYB):m.12188T>C rs879128211
NC_012920.1(MT-CYB):m.12189T>C rs28505538
NC_012920.1(MT-CYB):m.12191C>T rs1603223610
NC_012920.1(MT-CYB):m.12193A>G rs1603223611
NC_012920.1(MT-CYB):m.12196C>T rs1556424080
NC_012920.1(MT-CYB):m.12202T>C rs1603223613
NC_012920.1(MT-CYB):m.12204A>C rs1603223614
NC_012920.1(MT-CYB):m.12205C>T rs1603223615
NC_012920.1(MT-CYB):m.12213G>A rs1603223616
NC_012920.1(MT-CYB):m.12215T>C rs1603223617
NC_012920.1(MT-CYB):m.12216C>T rs1603223618
NC_012920.1(MT-CYB):m.12217A>G rs1556424082
NC_012920.1(MT-CYB):m.12218C>A rs1603223621
NC_012920.1(MT-CYB):m.12223A>G rs1603223624
NC_012920.1(MT-CYB):m.12230A>G rs1603223625
NC_012920.1(MT-CYB):m.12231C>T rs1603223627
NC_012920.1(MT-CYB):m.12234A>G rs1603223628
NC_012920.1(MT-CYB):m.12235T>C rs1556424083
NC_012920.1(MT-CYB):m.12237C>T rs1603223632
NC_012920.1(MT-CYB):m.12239C>T rs376062400
NC_012920.1(MT-CYB):m.12241del rs1603223633
NC_012920.1(MT-CYB):m.12241dup rs1603223633
NC_012920.1(MT-CYB):m.12245T>C rs1603223634
NC_012920.1(MT-CYB):m.12246C>T rs28508189
NC_012920.1(MT-CYB):m.12247T>C rs1603223637
NC_012920.1(MT-CYB):m.12248A>G rs202114991
NC_012920.1(MT-CYB):m.12250C>T rs1603223639
NC_012920.1(MT-CYB):m.12255T>C rs1603223640
NC_012920.1(MT-CYB):m.12258C>T rs118203888
NC_012920.1(MT-CYB):m.12264C>T rs1603223642
NC_012920.1(MT-CYB):m.12265A>G rs1603223643
NC_012920.1(MT-CYB):m.12273A>G rs1603223644
NC_012920.1(MT-CYB):m.12276G>A rs1603223645
NC_012920.1(MT-CYB):m.12278T>C rs1603223646
NC_012920.1(MT-CYB):m.12279A>G rs1603223647
NC_012920.1(MT-CYB):m.12279A>T rs1603223647
NC_012920.1(MT-CYB):m.12280A>G rs1603223649
NC_012920.1(MT-CYB):m.12281C>T rs1603223651
NC_012920.1(MT-CYB):m.12285T>C rs386419957
NC_012920.1(MT-CYB):m.12291T>C rs1603223653
NC_012920.1(MT-CYB):m.12293G>A rs1603223654
NC_012920.1(MT-CYB):m.12295T>C rs1603223656
NC_012920.1(MT-CYB):m.12302C>A rs1603223658
NC_012920.1(MT-CYB):m.12302C>T rs1603223658
NC_012920.1(MT-CYB):m.12308A>G rs2853498
NC_012920.1(MT-CYB):m.12310dup rs1603223659
NC_012920.1(MT-CYB):m.12311T>C rs201754056
NC_012920.1(MT-CYB):m.12318G>A rs1603223664
NC_012920.1(MT-CYB):m.12335T>C rs1603223668
NC_012920.1(MT-CYB):m.14681G>A rs1603224827
NC_012920.1(MT-CYB):m.14683A>G rs1603224828
NC_012920.1(MT-CYB):m.14684C>T rs1603224831
NC_012920.1(MT-CYB):m.14687A>G rs200189658
NC_012920.1(MT-CYB):m.14690A>G rs1603224834
NC_012920.1(MT-CYB):m.14691C>T rs1556424478
NC_012920.1(MT-CYB):m.14693A>G rs386829226
NC_012920.1(MT-CYB):m.14696A>C rs1556424481
NC_012920.1(MT-CYB):m.14696A>G rs1556424481
NC_012920.1(MT-CYB):m.14710G>A rs1603224840
NC_012920.1(MT-CYB):m.14716C>T rs1603224841
NC_012920.1(MT-CYB):m.14727T>C rs1603224847
NC_012920.1(MT-CYB):m.14729T>C rs1603224848
NC_012920.1(MT-CYB):m.14739G>A rs1603224850
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-CYB):m.15888G>A rs1603225568
NC_012920.1(MT-CYB):m.15889T>C rs199833246
NC_012920.1(MT-CYB):m.15890C>T rs527236196
NC_012920.1(MT-CYB):m.15891C>T rs1556424681
NC_012920.1(MT-CYB):m.15892T>C rs1556424683
NC_012920.1(MT-CYB):m.15893T>C rs1603225570
NC_012920.1(MT-CYB):m.15894G>A rs1569484752
NC_012920.1(MT-CYB):m.15895T>C rs1603225571
NC_012920.1(MT-CYB):m.15897G>A rs1603225575
NC_012920.1(MT-CYB):m.15900T>C rs878927456
NC_012920.1(MT-CYB):m.15902A>G rs1556424685
NC_012920.1(MT-CYB):m.15903A>G rs1603225580
NC_012920.1(MT-CYB):m.15904C>T rs35788393
NC_012920.1(MT-CYB):m.15905T>C rs879126276
NC_012920.1(MT-CYB):m.15907A>G rs41383248
NC_012920.1(MT-CYB):m.15908T>C rs386829266
NC_012920.1(MT-CYB):m.15909A>G rs1556424690
NC_012920.1(MT-CYB):m.15909A>T rs1556424690
NC_012920.1(MT-CYB):m.15911A>G rs1603225583
NC_012920.1(MT-CYB):m.15913C>T rs1603225584
NC_012920.1(MT-CYB):m.15914A>G rs1603225587
NC_012920.1(MT-CYB):m.15915G>A rs1603225588
NC_012920.1(MT-CYB):m.15916T>C rs1603225591
NC_012920.1(MT-CYB):m.15921T>C rs1603225593
NC_012920.1(MT-CYB):m.15924A>G rs193303001
NC_012920.1(MT-CYB):m.15925C>T rs1603225595
NC_012920.1(MT-CYB):m.15926C>T rs1603225597
NC_012920.1(MT-CYB):m.15929A>G rs878866272
NC_012920.1(MT-CYB):m.15930G>A rs41441949
NC_012920.1(MT-CYB):m.15932T>C rs527236199
NC_012920.1(MT-CYB):m.15935A>G rs1556424699
NC_012920.1(MT-CYB):m.15936A>G rs1556424701
NC_012920.1(MT-CYB):m.15936A>T rs1556424701
NC_012920.1(MT-CYB):m.15937A>G rs1603225605
NC_012920.1(MT-CYB):m.15937A>T rs1603225605
NC_012920.1(MT-CYB):m.15937del rs1603225604
NC_012920.1(MT-CYB):m.15938C>T rs200572753
NC_012920.1(MT-CYB):m.15939C>T rs878981265
NC_012920.1(MT-CYB):m.15940T>C rs879197567
NC_012920.1(MT-CYB):m.15941T>C rs193303003
NC_012920.1(MT-CYB):m.15942T>C rs28535186
NC_012920.1(MT-CYB):m.15944T>C rs1603225608
NC_012920.1(MT-CYB):m.15944del rs1603225607
NC_012920.1(MT-CYB):m.15944dup rs1603225607
NC_012920.1(MT-CYB):m.15946C>T rs202014122
NC_012920.1(MT-CYB):m.15947A>G rs1556424708
NC_012920.1(MT-CYB):m.15949G>A rs1603225611
NC_012920.1(MT-CYB):m.15951A>G rs199993959
NC_012920.1(MT-CYB):m.15952C>T rs1603225613
NC_012920.1(MT-CYB):m.15968T>C rs1603225617
NC_012920.1(MT-CYB):m.15970T>C rs375213730
NC_012920.1(MT-CYB):m.15976T>C rs1603225620
NC_012920.1(MT-CYB):m.15977C>T rs1556424716
NC_012920.1(MT-CYB):m.15978C>T rs201041059
NC_012920.1(MT-CYB):m.15983T>C rs1603225623
NC_012920.1(MT-CYB):m.15984T>C rs1603225624
NC_012920.1(MT-CYB):m.15992A>T rs1556424718
NC_012920.1(MT-CYB):m.15994A>G rs1603225627
NC_012920.1(MT-CYB):m.15995G>A rs1603225630
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.16003T>C rs1603225634
NC_012920.1(MT-CYB):m.16011A>G rs1603225635
NC_012920.1(MT-CYB):m.16013A>G rs1603225636
NC_012920.1(MT-CYB):m.16017T>C rs201864830
NC_012920.1(MT-CYB):m.16018_16032dup rs1603225639
NC_012920.1(MT-CYB):m.16021C>T rs1603225641
NC_012920.1(MT-CYB):m.1607T>C rs1603218581
NC_012920.1(MT-CYB):m.1608G>A rs1603218582
NC_012920.1(MT-CYB):m.1617C>T rs1603218583
NC_012920.1(MT-CYB):m.1618A>G rs1603218584
NC_012920.1(MT-CYB):m.1619C>T rs1569483811
NC_012920.1(MT-CYB):m.1619_1620insT rs1603218585
NC_012920.1(MT-CYB):m.1628C>T rs1603218586
NC_012920.1(MT-CYB):m.1629A>G rs1603218587
NC_012920.1(MT-CYB):m.1630A>G rs1603218588
NC_012920.1(MT-CYB):m.1631C>T rs1603218590
NC_012920.1(MT-CYB):m.1636A>G rs1603218591
NC_012920.1(MT-CYB):m.1638T>C rs1603218592
NC_012920.1(MT-CYB):m.1640A>G rs1603218594
NC_012920.1(MT-CYB):m.1641G>A rs28416113
NC_012920.1(MT-CYB):m.1643A>G rs1603218595
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.1646T>C rs1603218598
NC_012920.1(MT-CYB):m.1654T>C rs1603218602
NC_012920.1(MT-CYB):m.1656del rs1603218604
NC_012920.1(MT-CYB):m.1657C>T rs1603218606
NC_012920.1(MT-CYB):m.1658T>C rs1603218607
NC_012920.1(MT-CYB):m.1659T>C rs1603218609
NC_012920.1(MT-CYB):m.1664G>A rs200807305
NC_012920.1(MT-CYB):m.1670A>T rs1603218611
NC_012920.1(MT-CYB):m.3236A>G rs1603218849
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3248G>A rs879110136
NC_012920.1(MT-CYB):m.3252A>T rs199474661
NC_012920.1(MT-CYB):m.3254C>A rs1603218855
NC_012920.1(MT-CYB):m.3254C>T rs1603218855
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3261A>G rs1603218859
NC_012920.1(MT-CYB):m.3263C>T rs1603218860
NC_012920.1(MT-CYB):m.3269A>G rs1603218862
NC_012920.1(MT-CYB):m.3272T>C rs1603218865
NC_012920.1(MT-CYB):m.3275C>A rs1057516057
NC_012920.1(MT-CYB):m.3275C>G rs1057516057
NC_012920.1(MT-CYB):m.3277G>A rs386828902
NC_012920.1(MT-CYB):m.3278T>C rs1603218868
NC_012920.1(MT-CYB):m.3288A>G rs1603218872
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4264G>A rs1603219385
NC_012920.1(MT-CYB):m.4296G>A rs1603219393
NC_012920.1(MT-CYB):m.4298G>A rs1603219395
NC_012920.1(MT-CYB):m.4308G>A rs1603219396
NC_012920.1(MT-CYB):m.4310A>G rs1556422841
NC_012920.1(MT-CYB):m.4312C>T rs193303033
NC_012920.1(MT-CYB):m.4313T>C rs1603219398
NC_012920.1(MT-CYB):m.4314T>A rs1603219401
NC_012920.1(MT-CYB):m.4314T>C rs1603219401
NC_012920.1(MT-CYB):m.4314del rs1603219400
NC_012920.1(MT-CYB):m.4318C>T rs1603219405
NC_012920.1(MT-CYB):m.4320C>A rs1603219406
NC_012920.1(MT-CYB):m.4320C>T rs1603219406
NC_012920.1(MT-CYB):m.4327T>C rs1603219411
NC_012920.1(MT-CYB):m.4335C>T rs878959563
NC_012920.1(MT-CYB):m.4339G>A rs1603219415
NC_012920.1(MT-CYB):m.4340A>G rs1603219416
NC_012920.1(MT-CYB):m.4343A>G rs386828939
NC_012920.1(MT-CYB):m.4350C>T rs1603219418
NC_012920.1(MT-CYB):m.4353T>C rs1603219419
NC_012920.1(MT-CYB):m.4360G>A rs1603219422
NC_012920.1(MT-CYB):m.4370T>C rs1603219427
NC_012920.1(MT-CYB):m.4371T>C rs1603219428
NC_012920.1(MT-CYB):m.4372C>T rs1603219429
NC_012920.1(MT-CYB):m.4373T>C rs1603219432
NC_012920.1(MT-CYB):m.4375C>T rs1603219433
NC_012920.1(MT-CYB):m.4381A>G rs1603219434
NC_012920.1(MT-CYB):m.4384T>A rs1603219436
NC_012920.1(MT-CYB):m.4384T>C rs1603219436
NC_012920.1(MT-CYB):m.4385A>G rs386828941
NC_012920.1(MT-CYB):m.4385A>T rs386828941
NC_012920.1(MT-CYB):m.4386T>C rs1569483940
NC_012920.1(MT-CYB):m.4387C>T rs1556422854
NC_012920.1(MT-CYB):m.4394C>A rs1603219441
NC_012920.1(MT-CYB):m.4395A>G rs1603219443
NC_012920.1(MT-CYB):m.4399T>C rs1603219445
NC_012920.1(MT-CYB):m.4400A>G rs1603219449
NC_012920.1(MT-CYB):m.4417A>G rs1603219452
NC_012920.1(MT-CYB):m.4418T>C rs1556422856
NC_012920.1(MT-CYB):m.4429G>A rs1603219456
NC_012920.1(MT-CYB):m.4435A>G rs878930498
NC_012920.1(MT-CYB):m.4437C>T rs1603219459
NC_012920.1(MT-CYB):m.4451T>G rs1603219461
NC_012920.1(MT-CYB):m.4452T>C rs377043134
NC_012920.1(MT-CYB):m.4454T>A rs11510098
NC_012920.1(MT-CYB):m.4454T>C rs11510098
NC_012920.1(MT-CYB):m.4455A>G rs878986264
NC_012920.1(MT-CYB):m.4456C>T rs1603219465
NC_012920.1(MT-CYB):m.4464G>A rs1603219466
NC_012920.1(MT-CYB):m.4466A>G rs1603219467
NC_012920.1(MT-CYB):m.5514A>G rs1603219997
NC_012920.1(MT-CYB):m.5515A>G rs1603220000
NC_012920.1(MT-CYB):m.5516A>G rs1603220001
NC_012920.1(MT-CYB):m.5524T>C rs1603220004
NC_012920.1(MT-CYB):m.5527A>G rs1603220005
NC_012920.1(MT-CYB):m.5528T>C rs1556423004
NC_012920.1(MT-CYB):m.5530C>T rs1603220009
NC_012920.1(MT-CYB):m.5536_5537insT rs1603220010
NC_012920.1(MT-CYB):m.5538G>A rs1603220012
NC_012920.1(MT-CYB):m.5539A>G rs1603220013
NC_012920.1(MT-CYB):m.5539A>T rs1603220013
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5542C>T rs1603220015
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.5544T>C rs1603220018
NC_012920.1(MT-CYB):m.5550C>T rs1603220019
NC_012920.1(MT-CYB):m.5553T>C rs878853053
NC_012920.1(MT-CYB):m.5553T>G rs878853053
NC_012920.1(MT-CYB):m.5554C>A rs1603220020
NC_012920.1(MT-CYB):m.5557T>C rs1603220022
NC_012920.1(MT-CYB):m.5558A>G rs370471013
NC_012920.1(MT-CYB):m.5560G>A rs1603220026
NC_012920.1(MT-CYB):m.5563G>A rs1603220027
NC_012920.1(MT-CYB):m.5566A>G rs1603220029
NC_012920.1(MT-CYB):m.5567T>C rs1603220030
NC_012920.1(MT-CYB):m.5568A>G rs200719361
NC_012920.1(MT-CYB):m.5573A>G rs1603220033
NC_012920.1(MT-CYB):m.5575T>C rs1603220034
NC_012920.1(MT-CYB):m.5590G>A rs28619345
NC_012920.1(MT-CYB):m.5592A>G rs1603220042
NC_012920.1(MT-CYB):m.5600A>G rs1603220045
NC_012920.1(MT-CYB):m.5601C>T rs376884056
NC_012920.1(MT-CYB):m.5603C>T rs369496446
NC_012920.1(MT-CYB):m.5604C>T rs1603220053
NC_012920.1(MT-CYB):m.5605A>G rs878963919
NC_012920.1(MT-CYB):m.5607T>C rs1603220054
NC_012920.1(MT-CYB):m.5608C>T rs1603220057
NC_012920.1(MT-CYB):m.5609T>C rs1603220058
NC_012920.1(MT-CYB):m.5618T>C rs1603220060
NC_012920.1(MT-CYB):m.5619G>A rs1603220062
NC_012920.1(MT-CYB):m.5628T>C rs1556423015
NC_012920.1(MT-CYB):m.5633C>T rs879226228
NC_012920.1(MT-CYB):m.5640A>G rs1603220065
NC_012920.1(MT-CYB):m.5645G>A rs1603220068
NC_012920.1(MT-CYB):m.5654T>C rs1603220072
NC_012920.1(MT-CYB):m.5655T>C rs1556423019
NC_012920.1(MT-CYB):m.5661A>G rs1603220076
NC_012920.1(MT-CYB):m.5662C>T rs1603220078
NC_012920.1(MT-CYB):m.5663C>T rs1553139251
NC_012920.1(MT-CYB):m.5664A>G rs1603220079
NC_012920.1(MT-CYB):m.5665A>G rs1603220080
NC_012920.1(MT-CYB):m.5669G>A rs1603220083
NC_012920.1(MT-CYB):m.5672T>C rs1603220085
NC_012920.1(MT-CYB):m.5673T>C rs386828975
NC_012920.1(MT-CYB):m.5686A>T rs1603220088
NC_012920.1(MT-CYB):m.5693T>C rs1603220092
NC_012920.1(MT-CYB):m.5705A>G rs1556423024
NC_012920.1(MT-CYB):m.5708C>A rs1603220094
NC_012920.1(MT-CYB):m.5711A>G rs2854138
NC_012920.1(MT-CYB):m.5715A>G rs1603220096
NC_012920.1(MT-CYB):m.5772G>A rs1556423031
NC_012920.1(MT-CYB):m.5773G>A rs9659239
NC_012920.1(MT-CYB):m.5774T>C rs1603220102
NC_012920.1(MT-CYB):m.5774T>G rs1603220102
NC_012920.1(MT-CYB):m.5775T>C rs1603220105
NC_012920.1(MT-CYB):m.5780G>A rs878999194
NC_012920.1(MT-CYB):m.5783G>A rs1603220110
NC_012920.1(MT-CYB):m.5785T>C rs373493739
NC_012920.1(MT-CYB):m.5786T>C rs1603220117
NC_012920.1(MT-CYB):m.5786dup rs1603220115
NC_012920.1(MT-CYB):m.5788T>C rs1556423033
NC_012920.1(MT-CYB):m.578T>C rs1603218446
NC_012920.1(MT-CYB):m.5791G>A rs1603220121
NC_012920.1(MT-CYB):m.5793A>G rs1603220122
NC_012920.1(MT-CYB):m.5794T>C rs1556423035
NC_012920.1(MT-CYB):m.579T>C rs1603218447
NC_012920.1(MT-CYB):m.5800A>G rs1603220125
NC_012920.1(MT-CYB):m.5802T>C rs1603220128
NC_012920.1(MT-CYB):m.5804A>G rs1603220130
NC_012920.1(MT-CYB):m.5806T>C rs879211572
NC_012920.1(MT-CYB):m.5807A>G rs386828978
NC_012920.1(MT-CYB):m.5809G>A rs1603220134
NC_012920.1(MT-CYB):m.5811A>G rs1603220136
NC_012920.1(MT-CYB):m.5814T>A rs200077222
NC_012920.1(MT-CYB):m.5817C>T rs1603220138
NC_012920.1(MT-CYB):m.5819T>C rs1603220139
NC_012920.1(MT-CYB):m.5821G>A rs56133209
NC_012920.1(MT-CYB):m.5822G>A rs1556423041
NC_012920.1(MT-CYB):m.5823A>G rs878875817
NC_012920.1(MT-CYB):m.5824G>A rs879140945
NC_012920.1(MT-CYB):m.5836A>G rs386828979
NC_012920.1(MT-CYB):m.5837G>A rs1603220147
NC_012920.1(MT-CYB):m.5839C>T rs1603220148
NC_012920.1(MT-CYB):m.5840C>A rs1603220149
NC_012920.1(MT-CYB):m.5840C>T rs1603220149
NC_012920.1(MT-CYB):m.5841T>C rs1603220150
NC_012920.1(MT-CYB):m.5846C>T rs1603220152
NC_012920.1(MT-CYB):m.5852T>C rs1603220153
NC_012920.1(MT-CYB):m.5855A>G rs1603220155
NC_012920.1(MT-CYB):m.5858T>C rs1603220157
NC_012920.1(MT-CYB):m.5864G>A rs1603220158
NC_012920.1(MT-CYB):m.5865T>C rs1603220159
NC_012920.1(MT-CYB):m.5867C>T rs1603220160
NC_012920.1(MT-CYB):m.5875C>T rs1603220162
NC_012920.1(MT-CYB):m.5876A>G rs1603220163
NC_012920.1(MT-CYB):m.5885T>C rs1603220164
NC_012920.1(MT-CYB):m.5889A>G rs1603220167
NC_012920.1(MT-CYB):m.588T>C rs1603218449
NC_012920.1(MT-CYB):m.592C>T rs1603218450
NC_012920.1(MT-CYB):m.593T>C rs879123694
NC_012920.1(MT-CYB):m.595C>A rs1603218452
NC_012920.1(MT-CYB):m.595C>T rs1603218452
NC_012920.1(MT-CYB):m.595dup rs1603218451
NC_012920.1(MT-CYB):m.596T>C rs1556422474
NC_012920.1(MT-CYB):m.597C>T rs1603218453
NC_012920.1(MT-CYB):m.597_598insT rs1603218455
NC_012920.1(MT-CYB):m.603A>G rs1603218456
NC_012920.1(MT-CYB):m.606A>G rs200056066
NC_012920.1(MT-CYB):m.618T>C rs1603218460
NC_012920.1(MT-CYB):m.619T>C rs1603218462
NC_012920.1(MT-CYB):m.621A>G rs1603218463
NC_012920.1(MT-CYB):m.624C>T rs1603218465
NC_012920.1(MT-CYB):m.628C>T rs1603218467
NC_012920.1(MT-CYB):m.629T>A rs201031012
NC_012920.1(MT-CYB):m.629T>C rs201031012
NC_012920.1(MT-CYB):m.630C>T rs1603218468
NC_012920.1(MT-CYB):m.633A>G rs1603218469
NC_012920.1(MT-CYB):m.634T>A rs1603218470
NC_012920.1(MT-CYB):m.634T>C rs1603218470
NC_012920.1(MT-CYB):m.635C>T rs1603218471
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NC_012920.1(MT-CYB):m.644A>G rs1556422475
NC_012920.1(MT-CYB):m.647A>G rs1569483788
NC_012920.1(MT-CYB):m.7460A>G rs1603220969
NC_012920.1(MT-CYB):m.7469C>T rs1603220974
NC_012920.1(MT-CYB):m.7471C>A rs397515726
NC_012920.1(MT-CYB):m.7478G>A rs1603220977
NC_012920.1(MT-CYB):m.7479G>A rs1603220980
NC_012920.1(MT-CYB):m.7487C>T rs1603220981
NC_012920.1(MT-CYB):m.7490A>G rs1603220984
NC_012920.1(MT-CYB):m.7499C>A rs1603220989
NC_012920.1(MT-CYB):m.7501T>C rs1556423303
NC_012920.1(MT-CYB):m.7518A>G rs1603220992
NC_012920.1(MT-CYB):m.7520G>A rs1603220993
NC_012920.1(MT-CYB):m.7521G>A rs200336937
NC_012920.1(MT-CYB):m.7525T>C rs1603220995
NC_012920.1(MT-CYB):m.7533C>T rs1603221000
NC_012920.1(MT-CYB):m.7534C>T rs1603221002
NC_012920.1(MT-CYB):m.7538T>C rs1603221004
NC_012920.1(MT-CYB):m.7543A>G rs1603221006
NC_012920.1(MT-CYB):m.7546T>C rs1603221007
NC_012920.1(MT-CYB):m.7547T>C rs879076142
NC_012920.1(MT-CYB):m.7552A>G rs1603221008
NC_012920.1(MT-CYB):m.7555T>C rs1603221010
NC_012920.1(MT-CYB):m.7559A>G rs1556423308
NC_012920.1(MT-CYB):m.7561T>C rs1603221012
NC_012920.1(MT-CYB):m.7562A>G rs1603221015
NC_012920.1(MT-CYB):m.7566G>A rs1603221016
NC_012920.1(MT-CYB):m.7567C>T rs1603221018
NC_012920.1(MT-CYB):m.7568T>C rs1603221019
NC_012920.1(MT-CYB):m.7568dup rs1603221020
NC_012920.1(MT-CYB):m.7569A>G rs1603221021
NC_012920.1(MT-CYB):m.7570A>G rs1556423311
NC_012920.1(MT-CYB):m.7572T>C rs1603221022
NC_012920.1(MT-CYB):m.7576A>G rs1603221023
NC_012920.1(MT-CYB):m.7577T>C rs1603221025
NC_012920.1(MT-CYB):m.7581T>C rs201582552
NC_012920.1(MT-CYB):m.7582C>T rs1603221026
NC_012920.1(MT-CYB):m.7585A>G rs1603221028
NC_012920.1(MT-CYB):m.8298T>C rs1603221389
NC_012920.1(MT-CYB):m.8299G>A rs1603221391
NC_012920.1(MT-CYB):m.8300T>C rs1603221393
NC_012920.1(MT-CYB):m.8301A>G rs1603221396
NC_012920.1(MT-CYB):m.8308A>G rs879081228
NC_012920.1(MT-CYB):m.8311T>A rs371589230
NC_012920.1(MT-CYB):m.8311T>C rs371589230
NC_012920.1(MT-CYB):m.8315A>G rs1603221400
NC_012920.1(MT-CYB):m.8319A>G rs1603221401
NC_012920.1(MT-CYB):m.8331A>G rs1603221403
NC_012920.1(MT-CYB):m.8337T>C rs1603221405
NC_012920.1(MT-CYB):m.8338A>G rs1603221407
NC_012920.1(MT-CYB):m.8340_8341insT rs1603221409
NC_012920.1(MT-CYB):m.8343A>G rs1603221411
NC_012920.1(MT-CYB):m.8345C>T rs1603221413
NC_012920.1(MT-CYB):m.8346C>A rs1603221415
NC_012920.1(MT-CYB):m.8347A>G rs1603221417
NC_012920.1(MT-CYB):m.8348A>G rs1556423430
NC_012920.1(MT-CYB):m.8349C>T rs1603221418
NC_012920.1(MT-CYB):m.8350A>G rs1603221419
NC_012920.1(MT-CYB):m.8358A>G rs1603221421
NC_012920.1(MT-CYB):m.8360A>G rs1603221422
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1(MT-CYB):m.8364A>T rs1603221428
NC_012920.1(MT-CYB):m.9991A>G rs1603222612
NC_012920.1(MT-CYB):m.9993T>C rs1603222613
NC_012920.1(MT-CYB):m.9995T>C rs1603222616
NC_012920.1(MT-CYB):m.9996T>C rs1556423755
NC_012920.1(MT-CYB):m.9997T>A rs121434475
NC_012920.1:m.10018A>G rs1556423757
NC_012920.1:m.10046T>C rs876661357
NC_012920.1:m.11896C>G rs1057516065
NC_012920.1:m.12013A>G rs1057516067
NC_012920.1:m.12018C>G rs1057516068
NC_012920.1:m.13046T>C rs1603224015
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.13713C>A rs879193643
NC_012920.1:m.14465G>A rs1603224738
NC_012920.1:m.14692A>G rs879192165
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.15127C>T rs1057516074
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.15927G>A rs193303002
NC_012920.1:m.15928G>A rs527236198
NC_012920.1:m.15943T>C rs527236200
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3275C>T rs1057516057
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.4142G>A rs1603219317
NC_012920.1:m.4277T>C rs876661358
NC_012920.1:m.4316A>G rs876661360
NC_012920.1:m.4317delA rs876661361
NC_012920.1:m.4363T>C rs200009705
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.5561T>C rs1556423009
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.7472A>T rs1556423293
NC_012920.1:m.7496T>C rs1057516061
NC_012920.1:m.7502C>T rs876657868
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
NC_012920.1:m.9355A>T rs1556423663
NDP, 1-BP DEL
NG_007083.1:g.371658_507674del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NG_012130.1:g.(?_5165)_(7623_?)del
NM_000049.4(ASPA):c.806C>T (p.Thr269Met)
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000082.3(ERCC8):c.*105T>C rs3117
NM_000082.3(ERCC8):c.*237T>C rs4647153
NM_000082.3(ERCC8):c.*36C>T rs4647152
NM_000082.3(ERCC8):c.*373_*375dup rs886060720
NM_000082.3(ERCC8):c.*439G>T rs4647155
NM_000082.3(ERCC8):c.*462T>A rs886060719
NM_000082.3(ERCC8):c.*519C>A rs4647157
NM_000082.3(ERCC8):c.*724C>G rs886060718
NM_000082.3(ERCC8):c.*725T>G rs549186090
NM_000082.3(ERCC8):c.*763A>C rs886060717
NM_000082.3(ERCC8):c.-133C>G rs4647037
NM_000082.3(ERCC8):c.-23T>G rs4647038
NM_000082.3(ERCC8):c.-25G>C rs745927528
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
NM_000082.3(ERCC8):c.1023A>G (p.Val341=) rs138173863
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.173+1158A>G rs4647068
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.173+9A>G rs143356896
NM_000082.3(ERCC8):c.250T>C (p.Cys84Arg) rs146740678
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) rs886060722
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
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.399+1G>A rs774047625
NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) rs150952570
NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) rs192695896
NM_000082.3(ERCC8):c.435T>C (p.Tyr145=) rs4647100
NM_000082.3(ERCC8):c.472T>C (p.Leu158=) rs561001438
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.504A>G (p.Val168=) rs35366433
NM_000082.3(ERCC8):c.551-10G>T rs758296965
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.655G>C (p.Ala219Pro) rs150727525
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg) rs770499406
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.78-2A>T rs748379243
NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323
NM_000082.4(ERCC8):c.*113A>G
NM_000082.4(ERCC8):c.*116T>C
NM_000082.4(ERCC8):c.*377C>G
NM_000082.4(ERCC8):c.*458T>C
NM_000082.4(ERCC8):c.*583T>C
NM_000082.4(ERCC8):c.*602C>G
NM_000082.4(ERCC8):c.*644G>A
NM_000082.4(ERCC8):c.*7T>A
NM_000082.4(ERCC8):c.-33C>T
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His)
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.173+1119G>C rs1043679457
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp)
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe)
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter)
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr)
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn)
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)
NM_000082.4(ERCC8):c.399+3A>G
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys)
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp)
NM_000082.4(ERCC8):c.590G>A (p.Arg197His)
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter)
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)
NM_000082.4(ERCC8):c.839C>A rs61754098
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn)
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter)
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn)
NM_000082.4(ERCC8):c.945C>T (p.Thr315=)
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter)
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter)
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*1645del rs886055747
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*2452T>C rs4470338
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-26G>T rs747049729
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His) rs200738124
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1143_1150+1del rs1274459294
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.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1309C>T (p.Pro437Ser) rs763403545
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.136G>A (p.Gly46Arg) rs200866082
NM_000091.4(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1576-60G>A rs73993878
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del (p.603_605SPG[1]) rs1444785718
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del (p.772_774LPG[2]) rs1553759665
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr) rs572059687
NM_000091.4(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.4(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) rs1553762295
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3230G>A (p.Gly1077Asp) rs1559909384
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.4(COL4A3):c.3266G>A (p.Gly1089Asp) rs1574813382
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.3419-39C>T rs4675163
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.4(COL4A3):c.3440C>T (p.Ser1147Phe) rs200107989
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3575G>A (p.Gly1192Glu) rs1574823172
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.4(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3813del (p.Ser1272fs) rs1559914770
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3882+5G>A rs1553764454
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.3955G>A (p.Gly1319Arg) rs765661521
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.4(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.4(COL4A3):c.71C>G (p.Ala24Gly) rs184704920
NM_000091.4(COL4A3):c.73C>T (p.Pro25Ser) rs139271412
NM_000091.4(COL4A3):c.764C>T (p.Thr255Met) rs573527081
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.828+20A>G rs13386404
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.4(COL4A3):c.888+30G>A rs35467545
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.898G>A (p.Gly300Arg) rs772708743
NM_000091.4(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.4(COL4A3):c.987+35T>G rs10933172
NM_000091.4(COL4A3):c.988-80T>C rs56326869
NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) rs1057519376
NM_000091.4(COL4A3):c.[3490G>T];[687G>A]
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*1869C>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.-10C>T
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)
NM_000091.5(COL4A3):c.1150+4T>A
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.1167C>G (p.Gly389=)
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter)
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter)
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
NM_000091.5(COL4A3):c.1408+35C>T
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter)
NM_000091.5(COL4A3):c.142A>T (p.Lys48Ter) rs1207493576
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=) rs748691382
NM_000091.5(COL4A3):c.144+12C>A rs1882435
NM_000091.5(COL4A3):c.145-99C>T
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
NM_000091.5(COL4A3):c.1505-11T>C rs115757151
NM_000091.5(COL4A3):c.1505-12G>A
NM_000091.5(COL4A3):c.1505-2A>C rs1247804051
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter)
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter)
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp) rs1574745989
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter)
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.1727T>C (p.Val576Ala)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter)
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu) rs781163705
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1865G>A (p.Gly622Glu)
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.1929C>A (p.Gly643=) rs1574764067
NM_000091.5(COL4A3):c.1987C>T (p.Pro663Ser)
NM_000091.5(COL4A3):c.2021-54T>C
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2126-1G>C
NM_000091.5(COL4A3):c.2126G>A rs1553759430
NM_000091.5(COL4A3):c.2127A>C (p.Gly709=) rs1238746236
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=) rs527383673
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000091.5(COL4A3):c.2196T>C (p.Pro732=) rs1251724413
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter)
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
NM_000091.5(COL4A3):c.2223+100G>T
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2375-66C>T
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2488_2488+2del
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter)
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter)
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2747-4T>C rs772016854
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401
NM_000091.5(COL4A3):c.280-40T>G
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter)
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter)
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677
NM_000091.5(COL4A3):c.2881+46A>G
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter)
NM_000091.5(COL4A3):c.2987_2993del (p.Arg996fs)
NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs) rs1574803208
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3044G>A rs121912826
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505
NM_000091.5(COL4A3):c.315T>C (p.Pro105=) rs371460434
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.324+73C>T
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter)
NM_000091.5(COL4A3):c.3244_3247del (p.Lys1082fs) rs1057516204
NM_000091.5(COL4A3):c.3254T>G (p.Met1085Arg)
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter)
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter)
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter)
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.3565+9T>G rs750406964
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter)
NM_000091.5(COL4A3):c.3580del (p.Arg1194fs) rs1574823188
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.3672del (p.Pro1226fs)
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=) rs375442737
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
NM_000091.5(COL4A3):c.3735C>G (p.Gly1245=)
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248
NM_000091.5(COL4A3):c.3764C>A (p.Pro1255His)
NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.3857G>T (p.Gly1286Val)
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.388-2A>G
NM_000091.5(COL4A3):c.3882+132T>C
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter)
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter)
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter)
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
NM_000091.5(COL4A3):c.4154-69C>T
NM_000091.5(COL4A3):c.4219G>T (p.Glu1407Ter)
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)
NM_000091.5(COL4A3):c.4253-51G>A
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter)
NM_000091.5(COL4A3):c.4301A>G (p.Asp1434Gly)
NM_000091.5(COL4A3):c.441+146G>T
NM_000091.5(COL4A3):c.441+150G>T
NM_000091.5(COL4A3):c.442-88A>G
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401
NM_000091.5(COL4A3):c.4450G>A (p.Gly1484Arg)
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg)
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter)
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter)
NM_000091.5(COL4A3):c.4649T>G rs200655479
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+139C>T
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg)
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
NM_000091.5(COL4A3):c.4756-68A>G
NM_000091.5(COL4A3):c.4756-69A>G
NM_000091.5(COL4A3):c.4756-74A>C
NM_000091.5(COL4A3):c.4765G>A (p.Ala1589Thr)
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe)
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
NM_000091.5(COL4A3):c.4972dup (p.Ile1658fs)
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
NM_000091.5(COL4A3):c.504T>C (p.Asp168=) rs748974369
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
NM_000091.5(COL4A3):c.600_603dup (p.Phe202fs)
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000091.5(COL4A3):c.668T>C (p.Ile223Thr)
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.687+103T>A
NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)
NM_000091.5(COL4A3):c.706G>A (p.Gly236Arg)
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.725G>A rs1574699806
NM_000091.5(COL4A3):c.765+49T>G
NM_000091.5(COL4A3):c.766-13G>A rs77431913
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000091.5(COL4A3):c.828+59C>G
NM_000091.5(COL4A3):c.828+84T>G
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.838G>A (p.Gly280Arg)
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.88-4C>T rs148393022
NM_000091.5(COL4A3):c.889-39T>C
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.934-6C>A rs369438839
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter)
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-15T>C rs17353916
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.102A>G (p.Gln34=) rs3817617
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1221_1237del (p.Gly408fs) rs1559606445
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1776T>C (p.Ala592=) rs188655353
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val) rs373916569
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del (p.67_69PGP[1]) rs764884579
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2628_2654dup (p.Arg877_Gly885dup) rs1553641597
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2638_2639del (p.Ala880fs) rs1553641611
NM_000092.4(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3601G>A (p.Gly1201Ser) rs121912858
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3834dup (p.Gly1279fs) rs1553625684
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.4(COL4A4):c.4460_4463dup (p.Trp1488fs) rs1575714693
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.475C>T (p.Pro159Ser) rs760873029
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg) rs755961411
NM_000092.4(COL4A4):c.4820del (p.Ala1607fs) rs1559394354
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4923C>A (p.Cys1641Ter) rs121912862
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.666G>A (p.Pro222=) rs111945121
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr) rs370606294
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.735G>A (p.Pro245=) rs923865420
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.755G>T (p.Gly252Val) rs760795817
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.4(COL4A4):c.[1320_1369+2del];[2320G>C]
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1465T>A
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.-2C>T rs2228558
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter)
NM_000092.5(COL4A4):c.1030-14A>G
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1221del (p.Pro409fs) rs1576457876
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.1324G>T (p.Gly442Cys)
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1389del (p.Asn464fs) rs1576428862
NM_000092.5(COL4A4):c.1395C>T (p.Pro465=) rs771419084
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter)
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1459+5G>A
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
NM_000092.5(COL4A4):c.1585C>T (p.Pro529Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=) rs370489388
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr) rs75539253
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.192+1_192+2delinsTGATGTA rs1576812577
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter)
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs)
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
NM_000092.5(COL4A4):c.2164+8A>T rs745682054
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.2312dup (p.Arg773fs)
NM_000092.5(COL4A4):c.232C>T (p.Pro78Ser)
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2383+7G>A rs182406906
NM_000092.5(COL4A4):c.2384-5T>C rs3769641
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val)
NM_000092.5(COL4A4):c.2545+143T>A rs55915150
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter)
NM_000092.5(COL4A4):c.2726G>A (p.Gly909Glu)
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter)
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2908C>T (p.Gln970Ter)
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915
NM_000092.5(COL4A4):c.2969-1G>C rs1553639043
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter)
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter)
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter)
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3205G>C (p.Gly1069Arg)
NM_000092.5(COL4A4):c.3214+1G>T
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter)
NM_000092.5(COL4A4):c.3232G>A (p.Ala1078Thr) rs77277077
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter)
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter)
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter)
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
NM_000092.5(COL4A4):c.3696A>G (p.Pro1232=)
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr)
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter)
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4095A>G (p.Glu1365=)
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln)
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly)
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter)
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.4334-23A>G
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
NM_000092.5(COL4A4):c.4413C>G (p.His1471Gln) rs1478610555
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.4513C>G (p.Gln1505Glu) rs756535060
NM_000092.5(COL4A4):c.4522+4T>G
NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) rs1003748020
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)
NM_000092.5(COL4A4):c.4628_4631del (p.Leu1543fs) rs1575696646
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4782C>T (p.Ser1594=) rs200799557
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr)
NM_000092.5(COL4A4):c.4809+9C>T rs765888822
NM_000092.5(COL4A4):c.4829A>G (p.Gln1610Arg)
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
NM_000092.5(COL4A4):c.558+1G>A
NM_000092.5(COL4A4):c.559-2A>C
NM_000092.5(COL4A4):c.592C>T (p.Pro198Ser)
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.678_682dup (p.Pro228fs) rs1576571835
NM_000092.5(COL4A4):c.71+10C>T rs374140251
NM_000092.5(COL4A4):c.710del (p.Gly237fs)
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
NM_000092.5(COL4A4):c.735+2T>C
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
NM_000092.5(COL4A4):c.766C>T (p.Pro256Ser)
NM_000092.5(COL4A4):c.771C>T (p.Thr257=) rs372387985
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.846A>C (p.Gly282=)
NM_000092.5(COL4A4):c.847C>A (p.Leu283Met)
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter)
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter)
NM_000092.5:c.1205_1369del
NM_000122.1(ERCC3):c.*106T>C rs4150524
NM_000122.1(ERCC3):c.*177A>G rs4150525
NM_000122.1(ERCC3):c.*259G>A rs1803541
NM_000122.1(ERCC3):c.*29C>T rs4150523
NM_000122.1(ERCC3):c.-19C>T rs184301749
NM_000122.1(ERCC3):c.-69C>T rs9282675
NM_000122.1(ERCC3):c.1026C>T (p.Cys342=) rs752026166
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000122.1(ERCC3):c.1078C>T (p.Arg360Cys) rs754010782
NM_000122.1(ERCC3):c.1119G>A (p.Gln373=) rs2228544
NM_000122.1(ERCC3):c.1155C>T (p.Asp385=) rs371396764
NM_000122.1(ERCC3):c.1156G>A (p.Asp386Asn) rs374264195
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1371C>T (p.Ile457=) rs769083884
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.1485G>A (p.Glu495=) rs4150456
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.1731-11T>C rs746754189
NM_000122.1(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851
NM_000122.1(ERCC3):c.1887dup (p.Gly630fs) rs1558952235
NM_000122.1(ERCC3):c.1929G>T (p.Val643=) rs375556869
NM_000122.1(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904
NM_000122.1(ERCC3):c.2106G>A (p.Ala702=) rs114508982
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.1(ERCC3):c.254T>G (p.Phe85Cys) rs767507847
NM_000122.1(ERCC3):c.28+8G>A rs886054844
NM_000122.1(ERCC3):c.29-15G>T rs188356418
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.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.385G>A (p.Val129Ile) rs145762413
NM_000122.1(ERCC3):c.471+1G>A rs1558964705
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.1(ERCC3):c.615G>A (p.Glu205=) rs13427563
NM_000122.1(ERCC3):c.618C>T (p.Ala206=) rs145830873
NM_000122.1(ERCC3):c.657+15G>A rs781533251
NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000122.1(ERCC3):c.822+14C>T rs200833462
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.2(ERCC3):c.*138G>C
NM_000122.2(ERCC3):c.*220G>C
NM_000122.2(ERCC3):c.*83C>T
NM_000122.2(ERCC3):c.-31G>A
NM_000122.2(ERCC3):c.1076A>G (p.Lys359Arg)
NM_000122.2(ERCC3):c.1110T>C (p.Ser370=)
NM_000122.2(ERCC3):c.1152T>C (p.Ile384=)
NM_000122.2(ERCC3):c.1182C>T (p.Ser394=)
NM_000122.2(ERCC3):c.131A>G (p.Lys44Arg)
NM_000122.2(ERCC3):c.1335C>T (p.Thr445=) rs4150422
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)
NM_000122.2(ERCC3):c.1411G>A (p.Val471Ile)
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp)
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.1828-33C>T rs745775695
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407
NM_000122.2(ERCC3):c.1828-36C>T rs113416031
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=)
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087
NM_000122.2(ERCC3):c.1986G>A (p.Leu662=)
NM_000122.2(ERCC3):c.2080G>T (p.Ala694Ser)
NM_000122.2(ERCC3):c.2087T>G (p.Met696Arg)
NM_000122.2(ERCC3):c.2218-5G>A rs201054106
NM_000122.2(ERCC3):c.2218-6C>T rs200733704
NM_000122.2(ERCC3):c.2224C>T (p.Arg742Trp)
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226
NM_000122.2(ERCC3):c.314A>G (p.Glu105Gly)
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.529G>A (p.Val177Ile)
NM_000122.2(ERCC3):c.796_797del (p.Gln266fs) rs1558962530
NM_000123.3(ERCC5):c.*84G>A rs873601
NM_000123.3(ERCC5):c.*89G>A rs4150390
NM_000123.3(ERCC5):c.-126A>G rs754840043
NM_000123.3(ERCC5):c.-156C>A rs886049939
NM_000123.3(ERCC5):c.-200G>C rs76752300
NM_000123.3(ERCC5):c.-241G>C rs4150249
NM_000123.3(ERCC5):c.-242T>C rs2296147
NM_000123.3(ERCC5):c.-419A>G rs751402
NM_000123.3(ERCC5):c.-72C>T rs2296148
NM_000123.3(ERCC5):c.-74G>A rs3218736
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1129del (p.Ala377fs) rs1341902350
NM_000123.3(ERCC5):c.1131T>A (p.Ala377=) rs764744058
NM_000123.3(ERCC5):c.1232C>T (p.Thr411Met) rs2227872
NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.3(ERCC5):c.127C>T (p.Arg43Trp) rs750156480
NM_000123.3(ERCC5):c.1287T>C (p.Asp429=) rs146853061
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1460C>T (p.Pro487Leu) rs560626350
NM_000123.3(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.1563A>G (p.Glu521=) rs4150317
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1641C>T (p.Asn547=) rs200615101
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870
NM_000123.3(ERCC5):c.1917A>G (p.Glu639=) rs765554006
NM_000123.3(ERCC5):c.1926A>G (p.Glu642=) rs575691378
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.212G>A (p.Arg71His) rs587778293
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2190T>C (p.Asp730=) rs148103512
NM_000123.3(ERCC5):c.2208G>C (p.Leu736Phe) rs201744259
NM_000123.3(ERCC5):c.2268G>C (p.Gln756His) rs777336956
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2295C>T (p.Thr765=) rs201206202
NM_000123.3(ERCC5):c.2320-15C>T rs886049940
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2534-10T>G rs199562917
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.264+7G>A rs2020915
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2844T>C (p.Phe948=) rs563587995
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.2965-14T>A rs886049941
NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val) rs368550097
NM_000123.3(ERCC5):c.3003A>G (p.Gln1001=) rs886049942
NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) rs4150388
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871
NM_000123.3(ERCC5):c.3412G>A (p.Val1138Met) rs140930348
NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.3(ERCC5):c.3486C>T (p.Leu1162=) rs761650522
NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000123.3(ERCC5):c.3492C>A (p.Thr1164=) rs148782406
NM_000123.3(ERCC5):c.3532C>T (p.Arg1178Cys) rs768302699
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) rs4987063
NM_000123.3(ERCC5):c.442C>T (p.Pro148Ser) rs778333931
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
NM_000123.3(ERCC5):c.542A>G (p.His181Arg) rs4150295
NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) rs34291397
NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.669A>C (p.Pro223=) rs541094745
NM_000123.3(ERCC5):c.670G>C (p.Glu224Gln) rs552776094
NM_000123.3(ERCC5):c.739A>G (p.Ile247Val) rs200504271
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.787C>T (p.Arg263Ter) rs121434572
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.876A>G (p.Ile292Met) rs193097418
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000123.4(ERCC5):c.*88C>T
NM_000123.4(ERCC5):c.-146A>G
NM_000123.4(ERCC5):c.-192A>C
NM_000123.4(ERCC5):c.1030A>G (p.Thr344Ala)
NM_000123.4(ERCC5):c.1043T>G (p.Met348Arg)
NM_000123.4(ERCC5):c.1132G>A (p.Val378Ile)
NM_000123.4(ERCC5):c.1498C>T (p.Arg500Trp)
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318
NM_000123.4(ERCC5):c.1771A>C (p.Ser591Arg)
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.1954+5G>A
NM_000123.4(ERCC5):c.1955-6G>A
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372
NM_000123.4(ERCC5):c.2191A>T (p.Ile731Phe)
NM_000123.4(ERCC5):c.2248C>T (p.Leu750=)
NM_000123.4(ERCC5):c.2280C>T (p.Ile760=) rs773823921
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr)
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp)
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973
NM_000123.4(ERCC5):c.246A>C (p.Leu82=)
NM_000123.4(ERCC5):c.2604T>A (p.Thr868=)
NM_000123.4(ERCC5):c.2756G>A (p.Arg919Gln)
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)
NM_000123.4(ERCC5):c.294G>A (p.Ala98=) rs780506840
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.3252C>T (p.Cys1084=)
NM_000123.4(ERCC5):c.32A>C (p.Glu11Ala)
NM_000123.4(ERCC5):c.3411C>T (p.Pro1137=)
NM_000123.4(ERCC5):c.3421G>A (p.Gly1141Arg)
NM_000123.4(ERCC5):c.3438C>A (p.Ser1146Arg)
NM_000123.4(ERCC5):c.3492C>T (p.Thr1164=) rs148782406
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His)
NM_000123.4(ERCC5):c.479A>T (p.Glu160Val)
NM_000123.4(ERCC5):c.664A>G (p.Met222Val)
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000123.4(ERCC5):c.89-10A>G
NM_000123.4(ERCC5):c.932C>G (p.Ser311Cys)
NM_000124.3(ERCC6):c.1684_1705del
NM_000124.4(ERCC6):c.*1112G>A rs186262133
NM_000124.4(ERCC6):c.*118A>C rs4253233
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1279T>A rs189942338
NM_000124.4(ERCC6):c.*1314G>A rs542053472
NM_000124.4(ERCC6):c.*1327G>A rs117289374
NM_000124.4(ERCC6):c.*1383T>G rs886047023
NM_000124.4(ERCC6):c.*1780T>C rs188228522
NM_000124.4(ERCC6):c.*1805G>T
NM_000124.4(ERCC6):c.*1830T>C rs11101137
NM_000124.4(ERCC6):c.*1860A>G rs886047022
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*1933A>G rs748783305
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327
NM_000124.4(ERCC6):c.*1981dup rs557832376
NM_000124.4(ERCC6):c.*2031A>G
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2155T>C rs114183603
NM_000124.4(ERCC6):c.*2237C>T rs192242583
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.*2460T>C
NM_000124.4(ERCC6):c.*246T>C
NM_000124.4(ERCC6):c.*2540G>T
NM_000124.4(ERCC6):c.*2602A>G
NM_000124.4(ERCC6):c.*2662T>C
NM_000124.4(ERCC6):c.*2680A>C
NM_000124.4(ERCC6):c.*2729G>A
NM_000124.4(ERCC6):c.*2766T>G
NM_000124.4(ERCC6):c.*2946C>T
NM_000124.4(ERCC6):c.*2973C>G
NM_000124.4(ERCC6):c.*3217T>G
NM_000124.4(ERCC6):c.*3280A>G
NM_000124.4(ERCC6):c.*3356C>T
NM_000124.4(ERCC6):c.*3366G>A
NM_000124.4(ERCC6):c.*3395A>C
NM_000124.4(ERCC6):c.*341A>G rs886047030
NM_000124.4(ERCC6):c.*3684A>G
NM_000124.4(ERCC6):c.*3704C>T
NM_000124.4(ERCC6):c.*3720T>C
NM_000124.4(ERCC6):c.*379C>G rs4253234
NM_000124.4(ERCC6):c.*3823T>C
NM_000124.4(ERCC6):c.*388C>A rs886047029
NM_000124.4(ERCC6):c.*38A>G rs756639495
NM_000124.4(ERCC6):c.*3921A>G
NM_000124.4(ERCC6):c.*3925A>G
NM_000124.4(ERCC6):c.*4019A>G
NM_000124.4(ERCC6):c.*4090G>A
NM_000124.4(ERCC6):c.*4208A>G
NM_000124.4(ERCC6):c.*482C>A rs886047028
NM_000124.4(ERCC6):c.*53T>C rs4253231
NM_000124.4(ERCC6):c.*589A>G
NM_000124.4(ERCC6):c.*643G>A rs886047027
NM_000124.4(ERCC6):c.*645G>C rs886047026
NM_000124.4(ERCC6):c.*681G>A rs547014227
NM_000124.4(ERCC6):c.*751G>A rs886047025
NM_000124.4(ERCC6):c.*755A>G rs886047024
NM_000124.4(ERCC6):c.*813C>T
NM_000124.4(ERCC6):c.*900C>T rs189979670
NM_000124.4(ERCC6):c.*922C>T
NM_000124.4(ERCC6):c.*933G>A rs3750751
NM_000124.4(ERCC6):c.*977A>G rs765959190
NM_000124.4(ERCC6):c.-100A>G rs886047041
NM_000124.4(ERCC6):c.-107A>G rs886047042
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.-15+11G>A rs766986601
NM_000124.4(ERCC6):c.-15+3G>T rs1010201937
NM_000124.4(ERCC6):c.-22G>A rs4253006
NM_000124.4(ERCC6):c.-32G>A
NM_000124.4(ERCC6):c.-52G>A rs550772412
NM_000124.4(ERCC6):c.-65G>A
NM_000124.4(ERCC6):c.-78G>T rs4253005
NM_000124.4(ERCC6):c.-83G>A rs886047040
NM_000124.4(ERCC6):c.-87C>A rs4253004
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.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045
NM_000124.4(ERCC6):c.1158C>A (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984
NM_000124.4(ERCC6):c.1158C>T (p.Asp386=) rs141391984
NM_000124.4(ERCC6):c.1159G>A (p.Glu387Lys) rs148295935
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.1229G>A (p.Gly410Asp) rs138865542
NM_000124.4(ERCC6):c.1237C>T (p.Arg413Trp)
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) rs786205166
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1379A>C (p.Tyr460Ser)
NM_000124.4(ERCC6):c.1390C>T (p.Arg464Trp) rs375995821
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1435C>T (p.Arg479Cys) rs61749175
NM_000124.4(ERCC6):c.1436G>A (p.Arg479His) rs139161933
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923
NM_000124.4(ERCC6):c.1516A>T (p.Lys506Ter)
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter) rs121917900
NM_000124.4(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.1686-12G>A
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met) rs767709344
NM_000124.4(ERCC6):c.1761G>T (p.Thr587=) rs144608959
NM_000124.4(ERCC6):c.1777A>T (p.Arg593Ter)
NM_000124.4(ERCC6):c.1816A>T (p.Lys606Ter)
NM_000124.4(ERCC6):c.1820A>G (p.Lys607Arg) rs200832611
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821+7C>T rs4253132
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) rs786205167
NM_000124.4(ERCC6):c.1919G>A (p.Trp640Ter)
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.1992+7C>T rs373710355
NM_000124.4(ERCC6):c.1993-12T>C
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His)
NM_000124.4(ERCC6):c.1999del (p.Thr667fs) rs786205169
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674
NM_000124.4(ERCC6):c.2022T>A (p.Ser674=) rs544471829
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Ile692_Phe693insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2081C>T (p.Pro694Leu)
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2201T>G (p.Leu734Ter)
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2204G>T (p.Arg735Leu)
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2287-3T>C rs780652533
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2287-5C>T rs772880581
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2337C>T (p.Phe779=) rs114490473
NM_000124.4(ERCC6):c.2365C>G (p.Leu789Val) rs139913322
NM_000124.4(ERCC6):c.2380C>T (p.Gln794Ter)
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys) rs146043988
NM_000124.4(ERCC6):c.2391C>T (p.Ser797=) rs142641602
NM_000124.4(ERCC6):c.2397T>C (p.Leu799=) rs200079929
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2504G>A (p.Trp835Ter)
NM_000124.4(ERCC6):c.2543T>A (p.Leu848Ter)
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.2566C>T (p.Gln856Ter)
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.2598+7G>A rs769421755
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.2829+11A>T rs777251839
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys) rs886047035
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.4(ERCC6):c.2925-8T>A rs147637331
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157
NM_000124.4(ERCC6):c.2996A>G (p.Asn999Ser) rs760694729
NM_000124.4(ERCC6):c.3007G>T (p.Glu1003Ter)
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3070G>T (p.Gly1024Ter)
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3097A>T (p.Lys1033Ter)
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3123A>G (p.Gln1041=)
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613
NM_000124.4(ERCC6):c.3191A>G (p.Asn1064Ser) rs200093886
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3355G>T (p.Glu1119Ter)
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp) rs147079519
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3448A>T (p.Lys1150Ter)
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188
NM_000124.4(ERCC6):c.3465C>A (p.Tyr1155Ter)
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg) rs142094044
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr) rs148636026
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3544A>T (p.Lys1182Ter)
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3574G>T (p.Glu1192Ter)
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3594A>G (p.Lys1198=) rs374791168
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) rs786205173
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3636C>T (p.Cys1212=) rs886047033
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3637A>T (p.Arg1213Ter)
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3655G>T (p.Gly1219Ter)
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3757G>T (p.Glu1253Ter)
NM_000124.4(ERCC6):c.3764T>C (p.Leu1255Pro)
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile) rs116275562
NM_000124.4(ERCC6):c.3804C>T (p.His1268=) rs116032070
NM_000124.4(ERCC6):c.384C>T (p.Asp128=) rs146165518
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly)
NM_000124.4(ERCC6):c.3901C>T (p.Arg1301Cys)
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761
NM_000124.4(ERCC6):c.3942G>A (p.Trp1314Ter) rs1564725764
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.3983+4A>G
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) rs786205175
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.4(ERCC6):c.4041A>G (p.Thr1347=)
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4067G>A (p.Gly1356Asp)
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His) rs755854972
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.423-7T>C
NM_000124.4(ERCC6):c.423-9A>C
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.4295G>A (p.Arg1432Lys)
NM_000124.4(ERCC6):c.4306G>A (p.Ala1436Thr)
NM_000124.4(ERCC6):c.431C>T (p.Thr144Met)
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039
NM_000124.4(ERCC6):