NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_003784.4(SERPINB7):c.522dup (p.Val175fs)
|
rs672601344
|
0.00009
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_002035.4(KDSR):c.879G>A (p.Gln293=)
|
rs752611378
|
0.00006
|
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)
|
rs121908318
|
0.00006
|
NM_020427.3(SLURP1):c.82del (p.Cys28fs)
|
rs587776601
|
0.00006
|
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)
|
rs398123054
|
0.00003
|
NM_003784.4(SERPINB7):c.455-1G>A
|
rs577442939
|
0.00003
|
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg)
|
rs28937888
|
0.00003
|
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)
|
rs368292687
|
0.00002
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)
|
rs57758262
|
0.00001
|
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)
|
rs267607391
|
0.00001
|
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)
|
rs104894415
|
0.00001
|
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)
|
rs1160266009
|
0.00001
|
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys)
|
rs104894211
|
0.00001
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg)
|
rs1114167450
|
0.00001
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)
|
rs886041240
|
0.00001
|
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr)
|
rs121908320
|
0.00001
|
NM_022121.5(PERP):c.112del (p.Ser38fs)
|
rs769404975
|
0.00001
|
NC_000022.10:g.29758984_29815476del
|
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)
|
rs794729675
|
|
NM_000165.5(GJA1):c.23G>T (p.Gly8Val)
|
rs864309644
|
|
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp)
|
rs875989815
|
|
NM_000226.4(KRT9):c.469A>G (p.Met157Val)
|
rs58597584
|
|
NM_000226.4(KRT9):c.470T>C (p.Met157Thr)
|
rs59510579
|
|
NM_000226.4(KRT9):c.478C>G (p.Leu160Val)
|
rs28940896
|
|
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)
|
rs28940896
|
|
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr)
|
rs59296273
|
|
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)
|
rs56707768
|
|
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile)
|
rs56707768
|
|
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)
|
rs57536312
|
|
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)
|
rs59616921
|
|
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser)
|
rs61157095
|
|
NM_000226.4(KRT9):c.511G>A (p.Val171Met)
|
rs57019720
|
|
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro)
|
rs59878153
|
|
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)
|
|
|
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)
|
rs886041212
|
|
NM_000526.5(KRT14):c.17del (p.Arg6fs)
|
rs267607390
|
|
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter)
|
rs60831116
|
|
NM_001033053.2(NLRP1):c.2358-?_2528+?del
|
|
|
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)
|
rs104894416
|
|
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)
|
rs28937872
|
|
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)
|
rs2147978539
|
|
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)
|
rs1334834057
|
|
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)
|
rs1602683532
|
|
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)
|
rs780548317
|
|
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
|
|
|
NM_001127.4(AP1B1):c.38-1G>A
|
rs1602761438
|
|
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)
|
rs1602749299
|
|
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)
|
rs2147995205
|
|
NM_001242908.2(RSPO1):c.-288-413_94+1957del
|
|
|
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)
|
rs2148163144
|
|
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)
|
rs398123055
|
|
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)
|
rs398123057
|
|
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)
|
rs398123056
|
|
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
|
|
|
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
|
|
|
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
|
|
|
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
|
|
|
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
|
|
|
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
|
|
|
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu)
|
rs104894207
|
|
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
|
|
|
NM_001814.6(CTSC):c.890-1G>A
|
|
|
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
|
|
|
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
|
|
|
NM_001942.4(DSG1):c.1079dup (p.Ile361fs)
|
rs398122949
|
|
NM_001942.4(DSG1):c.121dup (p.Trp41fs)
|
rs398122951
|
|
NM_001942.4(DSG1):c.1628del (p.Asn543fs)
|
rs398122950
|
|
NM_001942.4(DSG1):c.430A>T (p.Arg144Ter)
|
rs397515641
|
|
NM_001942.4(DSG1):c.601C>T (p.Gln201Ter)
|
rs397515640
|
|
NM_001942.4(DSG1):c.76C>T (p.Arg26Ter)
|
rs397515639
|
|
NM_001942.4(DSG1):c.85-1G>A
|
rs1568039793
|
|
NM_002035.4(KDSR):c.256-2A>C
|
rs1114167451
|
|
NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe)
|
rs1114167452
|
|
NM_002282.3(KRT83):c.811del (p.Ser271fs)
|
rs753293188
|
|
NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs)
|
rs797044479
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)
|
rs28931594
|
|
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys)
|
rs104894412
|
|
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)
|
rs104894410
|
|
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)
|
rs104894404
|
|
NM_004004.6(GJB2):c.218A>G (p.His73Arg)
|
rs121912968
|
|
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)
|
rs104894408
|
|
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)
|
rs28929485
|
|
NM_004782.4(SNAP29):c.223del (p.Val75fs)
|
rs869312906
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004782.4(SNAP29):c.487dup (p.Ser163fs)
|
rs387907363
|
|
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter)
|
rs1064795236
|
|
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del)
|
rs60447237
|
|
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile)
|
rs57977969
|
|
NM_006121.4(KRT1):c.591+2T>A
|
rs267607424
|
|
NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met)
|
rs1278993777
|
|
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr)
|
rs1369949906
|
|
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
|
|
|
NM_020127.3(TUFT1):c.60+1G>A
|
|
|
NM_020159.5(SMARCAD1):c.1281+649_1281+666del
|
rs1560542180
|
|
NM_020159.5(SMARCAD1):c.1281+666T>C
|
rs1114167276
|
|
NM_020159.5(SMARCAD1):c.1281+666dup
|
rs1560542214
|
|
NM_020427.3(SLURP1):c.178+1G>A
|
rs587776602
|
|
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu)
|
rs28937889
|
|
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg)
|
rs121908319
|
|
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg)
|
rs28937888
|
|
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter)
|
rs121908317
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_022121.5(PERP):c.466G>A (p.Gly156Arg)
|
rs1775596006
|
|
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)
|
rs28937583
|
|
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)
|
rs74315321
|
|
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)
|
rs74315317
|
|
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)
|
rs74315315
|
|
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)
|
rs74315316
|
|
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)
|
rs121908122
|
|
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter)
|
rs121908123
|
|
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter)
|
rs121908118
|
|
NM_025216.3(WNT10A):c.756+1G>A
|
rs1944637150
|
|
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser)
|
rs1011303295
|
|
NM_025216.3(WNT10A):c.949del (p.Ala317fs)
|
rs775990266
|
|
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)
|
rs1057519492
|
|
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)
|
rs1057519493
|
|
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)
|
rs397514692
|
|
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)
|
rs80358210
|
|
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp)
|
rs80358211
|
|
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu)
|
rs80358207
|
|
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu)
|
rs80358206
|
|
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr)
|
rs80358213
|
|
NM_153212.3(GJB4):c.65G>A (p.Arg22His)
|
rs80358212
|
|