NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
NM_000322.5(PRPH2):c.634A>C (p.Ser212Arg)
|
rs61755800
|
0.00001
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NC_000006.11:g.(?_42666033)_(42666265_?)del
|
|
|
NC_000006.11:g.(?_42666033)_(42672369_?)del
|
|
|
NC_000006.11:g.(?_42666033)_(42690072_?)del
|
|
|
NC_000006.11:g.(?_42672083)_(42672369_?)del
|
|
|
NC_000006.11:g.(?_42689472)_(42690072_?)del
|
|
|
NC_000006.11:g.(?_42689492)_(42690072_?)del
|
|
|
NC_000006.12:g.(?_42704365)_(42704611_?)del
|
|
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.121del (p.Phe40_Leu41insTer)
|
|
|
NM_000322.5(PRPH2):c.141_222del (p.Arg48fs)
|
rs2152011045
|
|
NM_000322.5(PRPH2):c.148del (p.Asp50fs)
|
rs1761917626
|
|
NM_000322.5(PRPH2):c.163del (p.Ser55fs)
|
rs1761917286
|
|
NM_000322.5(PRPH2):c.178del (p.Val60fs)
|
rs2152011068
|
|
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg)
|
rs63749073
|
|
NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)
|
rs1761921867
|
|
NM_000322.5(PRPH2):c.202G>A (p.Gly68Arg)
|
rs61755774
|
|
NM_000322.5(PRPH2):c.205del (p.Val69fs)
|
rs1761916286
|
|
NM_000322.5(PRPH2):c.205dup (p.Val69fs)
|
rs1761916286
|
|
NM_000322.5(PRPH2):c.208_217dup (p.Val73fs)
|
rs2152011046
|
|
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)
|
rs1203908646
|
|
NM_000322.5(PRPH2):c.228del (p.Leu77fs)
|
rs2152011039
|
|
NM_000322.5(PRPH2):c.237dup (p.Lys80fs)
|
rs1761915366
|
|
NM_000322.5(PRPH2):c.238A>T (p.Lys80Ter)
|
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.249C>A (p.Tyr83Ter)
|
|
|
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)
|
rs1554270834
|
|
NM_000322.5(PRPH2):c.269_270del (p.Lys90fs)
|
rs2152011015
|
|
NM_000322.5(PRPH2):c.282_286dup (p.Pro96fs)
|
rs2152011005
|
|
NM_000322.5(PRPH2):c.288del (p.Trp97fs)
|
|
|
NM_000322.5(PRPH2):c.290G>A (p.Trp97Ter)
|
rs1761913693
|
|
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)
|
rs121918565
|
|
NM_000322.5(PRPH2):c.302del (p.Tyr101fs)
|
rs2152011002
|
|
NM_000322.5(PRPH2):c.303C>A (p.Tyr101Ter)
|
|
|
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)
|
rs1761913253
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
NM_000322.5(PRPH2):c.330del (p.Ile111fs)
|
|
|
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)
|
rs2152010976
|
|
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
|
rs1761911206
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000322.5(PRPH2):c.407del (p.Asn136fs)
|
|
|
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp)
|
rs527236097
|
|
NM_000322.5(PRPH2):c.411dup (p.Met138fs)
|
|
|
NM_000322.5(PRPH2):c.421T>C (p.Tyr141His)
|
rs61755780
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)
|
rs2152010946
|
|
NM_000322.5(PRPH2):c.423C>G (p.Tyr141Ter)
|
|
|
NM_000322.5(PRPH2):c.440dup (p.Gly148fs)
|
rs1426763534
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter)
|
rs1761908800
|
|
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.465del (p.Ile156fs)
|
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.484G>T (p.Glu162Ter)
|
|
|
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)
|
rs2152010916
|
|
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000322.5(PRPH2):c.498C>A (p.Cys166Ter)
|
rs759752477
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp)
|
rs61755789
|
|
NM_000322.5(PRPH2):c.509del (p.Gly170fs)
|
rs2152010910
|
|
NM_000322.5(PRPH2):c.513dup (p.Arg172fs)
|
rs2152010904
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala)
|
rs61755794
|
|
NM_000322.5(PRPH2):c.518del (p.Asp173fs)
|
rs2152010898
|
|
NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)
|
rs1064793237
|
|
NM_000322.5(PRPH2):c.52del (p.Gln18fs)
|
rs2152011142
|
|
NM_000322.5(PRPH2):c.531del (p.Gln178fs)
|
|
|
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.537G>A (p.Trp179Ter)
|
rs779414078
|
|
NM_000322.5(PRPH2):c.548_551dup (p.Tyr184Ter)
|
|
|
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)
|
rs2152010859
|
|
NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter)
|
rs2152010848
|
|
NM_000322.5(PRPH2):c.578_579del (p.Lys193fs)
|
rs62645929
|
|
NM_000322.5(PRPH2):c.581+1G>A
|
rs1761904690
|
|
NM_000322.5(PRPH2):c.581+1G>C
|
rs1761904690
|
|
NM_000322.5(PRPH2):c.582-1G>A
|
rs1800118693
|
|
NM_000322.5(PRPH2):c.582-2A>G
|
|
|
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)
|
rs1322278463
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.584_588del (p.Arg195fs)
|
rs1800118432
|
|
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu)
|
rs62645931
|
|
NM_000322.5(PRPH2):c.597del (p.Asn199fs)
|
rs1800118044
|
|
NM_000322.5(PRPH2):c.601_602insGGCCCTCTCCCGTCTCCCTCTCCCTCTCCCGACTCCCACTCCCTCTCCCGTCTCCCTCACCCGCACCCGAAACCCACACCCGCTCCCTGATACAACTCCCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGCAACGTGG (p.Val200_Asp201insGlyProSerProValSerLeuSerLeuSerArgLeuProLeuProLeuProSerProSerProAlaProGluThrHisThrArgSerLeuIleGlnLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysSerAsnVal)
|
|
|
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del)
|
rs1800116963
|
|
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)
|
rs1800117660
|
|
NM_000322.5(PRPH2):c.607_619del (p.Arg203fs)
|
|
|
NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)
|
rs281865372
|
|
NM_000322.5(PRPH2):c.611_617dup (p.Asp207fs)
|
rs1800117107
|
|
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)
|
rs1800116472
|
|
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.626T>A (p.Val209Asp)
|
rs1220783333
|
|
NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser)
|
rs61755797
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.62G>A (p.Trp21Ter)
|
rs2152011135
|
|
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)
|
rs1800116126
|
|
NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)
|
rs2152005352
|
|
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)
|
rs61755799
|
|
NM_000322.5(PRPH2):c.633_658del (p.Phe211fs)
|
rs2152005323
|
|
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly)
|
rs61755800
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)
|
rs1554269071
|
|
NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)
|
|
|
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg)
|
rs61755802
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp)
|
rs1800115811
|
|
NM_000322.5(PRPH2):c.641_652del (p.Cys214_Ser217del)
|
rs1800115217
|
|
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
|
rs1388865786
|
|
NM_000322.5(PRPH2):c.643A>C (p.Asn215His)
|
rs2152005339
|
|
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)
|
rs2152005339
|
|
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)
|
rs1800115494
|
|
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)
|
rs61755806
|
|
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)
|
rs1582764878
|
|
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.654_655del (p.Pro219fs)
|
rs2152005328
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
|
rs61755810
|
|
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)
|
rs973931180
|
|
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg)
|
rs1554269053
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.666C>A (p.Cys222Ter)
|
|
|
NM_000322.5(PRPH2):c.68del (p.Met23fs)
|
|
|
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)
|
rs1554269046
|
|
NM_000322.5(PRPH2):c.695C>A (p.Ala232Glu)
|
rs1800113364
|
|
NM_000322.5(PRPH2):c.700del (p.Tyr234fs)
|
rs1800113276
|
|
NM_000322.5(PRPH2):c.702C>A (p.Tyr234Ter)
|
rs2152005280
|
|
NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.710_720del (p.Asp237fs)
|
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.719del (p.Thr240fs)
|
|
|
NM_000322.5(PRPH2):c.721G>T (p.Glu241Ter)
|
rs2152005272
|
|
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)
|
rs1800111659
|
|
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)
|
rs1800111659
|
|
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.74G>A (p.Trp25Ter)
|
|
|
NM_000322.5(PRPH2):c.750C>A (p.Cys250Ter)
|
rs2152005243
|
|
NM_000322.5(PRPH2):c.751_758del (p.Arg251fs)
|
rs2152005235
|
|
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)
|
rs1800110989
|
|
NM_000322.5(PRPH2):c.769_772dup (p.Tyr258fs)
|
|
|
NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter)
|
rs1800110757
|
|
NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter)
|
rs121918564
|
|
NM_000322.5(PRPH2):c.794_805del (p.Met265_Val268del)
|
|
|
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)
|
rs62645935
|
|
NM_000322.5(PRPH2):c.809_810del (p.Leu270fs)
|
rs1800109348
|
|
NM_000322.5(PRPH2):c.810_828+9del
|
rs2152005174
|
|
NM_000322.5(PRPH2):c.811_822del (p.Leu271_Leu274del)
|
|
|
NM_000322.5(PRPH2):c.811del (p.Leu271fs)
|
rs1582764528
|
|
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)
|
rs751900290
|
|
NM_000322.5(PRPH2):c.828+1G>A
|
rs1800108516
|
|
NM_000322.5(PRPH2):c.828+1G>T
|
rs1800108516
|
|
NM_000322.5(PRPH2):c.828+2T>C
|
rs1800108496
|
|
NM_000322.5(PRPH2):c.829-4C>G
|
rs1582759785
|
|
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter)
|
rs62645938
|
|
NM_000322.5(PRPH2):c.858del (p.Gln287fs)
|
|
|
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs)
|
rs1554268546
|
|
NM_000322.5(PRPH2):c.868_869del (p.Leu290fs)
|
rs2152003863
|
|
NM_000322.5(PRPH2):c.897dup (p.Glu300Ter)
|
|
|
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)
|
rs1799988458
|
|
NM_000322.5(PRPH2):c.90_93del (p.Gly31fs)
|
rs2152011112
|
|
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
|
rs61748432
|
|
NM_000322.5(PRPH2):c.914del (p.Gly305fs)
|
rs2152003847
|
|
NM_000322.5(PRPH2):c.920del (p.Leu307fs)
|
rs61748433
|
|
NM_000322.5(PRPH2):c.935_939dup (p.Glu314fs)
|
rs1799986394
|
|
NM_000322.5(PRPH2):c.936del (p.Pro313fs)
|
|
|
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter)
|
rs1554268521
|
|
NM_000322.5(PRPH2):c.948del (p.Thr315_Trp316insTer)
|
|
|
NM_000322.5(PRPH2):c.954_955del (p.Phe319fs)
|
|
|
NM_000322.5(PRPH2):c.964_965del (p.Ser322fs)
|
rs1799985749
|
|
NM_000322.5(PRPH2):c.96dup (p.Ile33fs)
|
rs61755768
|
|
NM_000322.5(PRPH2):c.991C>T (p.Gln331Ter)
|
rs281865375
|
|
NM_000322.5(PRPH2):c.991del (p.Gln331fs)
|
rs2152003795
|
|
NM_000322.5(PRPH2):c.994del (p.Val332fs)
|
rs2152003792
|
|