NM_020361.5(CPA6):c.133T>C (p.Phe45Leu)
|
rs10957393
|
0.25907
|
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys)
|
rs17853192
|
0.06550
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr)
|
rs151119622
|
0.00029
|
NM_020361.5(CPA6):c.61T>A (p.Phe21Ile)
|
rs147067921
|
0.00024
|
NM_020361.5(CPA6):c.624G>T (p.Trp208Cys)
|
rs762000090
|
0.00014
|
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp)
|
rs201589247
|
0.00010
|
NM_020361.5(CPA6):c.193-4A>G
|
rs776127035
|
0.00008
|
NM_020361.5(CPA6):c.274C>T (p.Arg92Ter)
|
rs774401459
|
0.00006
|
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)
|
rs199576384
|
0.00006
|
NM_020361.5(CPA6):c.229T>A (p.Ser77Thr)
|
rs780171379
|
0.00005
|
NM_020361.5(CPA6):c.54del (p.Trp19fs)
|
rs778807405
|
0.00005
|
NM_020361.5(CPA6):c.275G>A (p.Arg92Gln)
|
rs147475942
|
0.00004
|
NM_020361.5(CPA6):c.374A>G (p.Gln125Arg)
|
rs200114239
|
0.00004
|
NM_020361.5(CPA6):c.105C>A (p.Asn35Lys)
|
rs530829401
|
0.00003
|
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
|
rs183899632
|
0.00003
|
NM_020361.5(CPA6):c.127A>G (p.Ile43Val)
|
rs766547893
|
0.00003
|
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys)
|
rs138360068
|
0.00003
|
NM_020361.5(CPA6):c.505T>C (p.Tyr169His)
|
rs201643526
|
0.00003
|
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys)
|
rs368736137
|
0.00003
|
NM_020361.5(CPA6):c.317+8T>C
|
rs748471446
|
0.00002
|
NM_020361.5(CPA6):c.382C>T (p.Arg128Ter)
|
rs768188762
|
0.00002
|
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln)
|
rs779117472
|
0.00002
|
NM_020361.5(CPA6):c.397G>C (p.Gly133Arg)
|
rs746521547
|
0.00002
|
NM_020361.5(CPA6):c.534+4A>G
|
rs766728291
|
0.00002
|
NM_020361.5(CPA6):c.551G>A (p.Arg184Gln)
|
rs768944284
|
0.00002
|
NM_020361.5(CPA6):c.102C>T (p.Asn34=)
|
rs1228904142
|
0.00001
|
NM_020361.5(CPA6):c.106C>T (p.Arg36Cys)
|
rs752233230
|
0.00001
|
NM_020361.5(CPA6):c.163del (p.Ala55fs)
|
rs760392592
|
0.00001
|
NM_020361.5(CPA6):c.170A>G (p.Lys57Arg)
|
rs1188067416
|
0.00001
|
NM_020361.5(CPA6):c.234G>A (p.Glu78=)
|
rs1239973110
|
0.00001
|
NM_020361.5(CPA6):c.255T>C (p.His85=)
|
rs539581100
|
0.00001
|
NM_020361.5(CPA6):c.289T>C (p.Phe97Leu)
|
rs1249651960
|
0.00001
|
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser)
|
rs372902713
|
0.00001
|
NM_020361.5(CPA6):c.317A>T (p.Lys106Met)
|
rs1044751209
|
0.00001
|
NM_020361.5(CPA6):c.360C>A (p.Ser120Arg)
|
rs1277121732
|
0.00001
|
NM_020361.5(CPA6):c.419A>G (p.His140Arg)
|
rs199809258
|
0.00001
|
NM_020361.5(CPA6):c.426A>G (p.Leu142=)
|
rs777807877
|
0.00001
|
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr)
|
rs1487624789
|
0.00001
|
NM_020361.5(CPA6):c.529T>C (p.Leu177=)
|
rs774952258
|
0.00001
|
NM_020361.5(CPA6):c.545G>A (p.Arg182Gln)
|
rs765453517
|
0.00001
|
NM_020361.5(CPA6):c.597A>G (p.Glu199=)
|
rs751220431
|
0.00001
|
NM_020361.5(CPA6):c.80C>T (p.Pro27Leu)
|
rs757926740
|
0.00001
|
NC_000008.11:g.(?_67422484)_(67434260_?)dup
|
|
|
NC_000008.11:g.(?_67422484)_(67746149_?)dup
|
|
|
NC_000008.11:g.(?_67483748)_(67484809_?)del
|
|
|
NC_000008.11:g.(?_67624156)_(67624271_?)del
|
|
|
NM_020361.5(CPA6):c.107G>A (p.Arg36His)
|
rs183899632
|
|
NM_020361.5(CPA6):c.111T>C (p.Tyr37=)
|
rs1587747257
|
|
NM_020361.5(CPA6):c.116+5G>C
|
rs1281394588
|
|
NM_020361.5(CPA6):c.117-9_117-5del
|
rs2128986980
|
|
NM_020361.5(CPA6):c.125T>C (p.Val42Ala)
|
rs1554526426
|
|
NM_020361.5(CPA6):c.129_130del (p.Ile43fs)
|
rs1587646001
|
|
NM_020361.5(CPA6):c.12C>T (p.Leu4=)
|
rs754451669
|
|
NM_020361.5(CPA6):c.192+4A>C
|
rs775478331
|
|
NM_020361.5(CPA6):c.192+5_192+15del
|
rs1429763120
|
|
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
|
rs373565150
|
|
NM_020361.5(CPA6):c.21C>T (p.Arg7=)
|
rs2129005002
|
|
NM_020361.5(CPA6):c.24G>A (p.Arg8=)
|
rs777248963
|
|
NM_020361.5(CPA6):c.266del (p.Asn89fs)
|
rs770265319
|
|
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn)
|
rs886063081
|
|
NM_020361.5(CPA6):c.329A>T (p.Glu110Val)
|
rs1480644555
|
|
NM_020361.5(CPA6):c.380A>G (p.Asn127Ser)
|
rs1812043338
|
|
NM_020361.5(CPA6):c.488_490del (p.Phe163del)
|
rs1587505484
|
|
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala)
|
rs1587505420
|
|
NM_020361.5(CPA6):c.535-1G>A
|
rs766751629
|
|
NM_020361.5(CPA6):c.535-1G>T
|
rs766751629
|
|
NM_020361.5(CPA6):c.579T>C (p.Cys193=)
|
rs1811938981
|
|
NM_020361.5(CPA6):c.621G>A (p.Gln207=)
|
rs1452381225
|
|
NM_020361.5(CPA6):c.636+5G>A
|
rs1166618180
|
|
NM_020361.5(CPA6):c.63T>G (p.Phe21Leu)
|
rs1818002133
|
|