NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)
|
rs552831415
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
|
rs760029254
|
0.00002
|
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp)
|
rs766076920
|
0.00002
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)
|
rs746390776
|
0.00001
|
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)
|
rs371243939
|
0.00001
|
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)
|
rs754826836
|
0.00001
|
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)
|
rs772682471
|
0.00001
|
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
|
rs770093969
|
0.00001
|
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)
|
rs759017288
|
0.00001
|
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)
|
rs966212736
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)
|
rs1413274209
|
0.00001
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
NM_000478.6(ALPL):c.532T>C (p.Tyr178His)
|
rs1215600806
|
0.00001
|
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)
|
rs121918000
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000478.6(ALPL):c.648+1G>A
|
rs749544042
|
0.00001
|
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)
|
rs786204442
|
0.00001
|
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter)
|
rs786204634
|
0.00001
|
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)
|
rs121918020
|
0.00001
|
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)
|
rs768555495
|
0.00001
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del
|
|
|
NC_000001.10:g.(?_21835915)_(21904904_?)del
|
|
|
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
|
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1132G>C (p.Asp378His)
|
rs1553414611
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)
|
rs1344601362
|
|
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)
|
rs2148192444
|
|
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)
|
rs1057516293
|
|
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)
|
rs768053120
|
|
NM_000478.6(ALPL):c.1361del (p.His454fs)
|
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.1474del (p.Ala492fs)
|
rs1558558976
|
|
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
|
|
|
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)
|
rs772638759
|
|
NM_000478.6(ALPL):c.18del (p.Val7fs)
|
rs1558543066
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
|
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)
|
rs121918003
|
|
NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)
|
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)
|
rs747762186
|
|
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)
|
rs1057516230
|
|
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
|
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)
|
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)
|
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.662del (p.Gly221fs)
|
rs769948289
|
|
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)
|
rs1223142821
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
|
|
|
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)
|
rs2148184404
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser)
|
rs777282696
|
|