NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)
|
rs121913036
|
0.00005
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_001953.5(TYMP):c.215-1G>C
|
rs767245071
|
0.00004
|
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser)
|
rs121913040
|
0.00004
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_001953.5(TYMP):c.1159+1G>A
|
rs1044840059
|
0.00003
|
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)
|
rs866001342
|
0.00003
|
NM_001953.5(TYMP):c.646+1G>A
|
rs760629248
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)
|
rs1060499534
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)
|
rs2069504242
|
0.00001
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)
|
rs121913038
|
0.00001
|
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)
|
rs761665644
|
0.00001
|
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)
|
rs1064792870
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)
|
rs946234163
|
0.00001
|
NM_001953.5(TYMP):c.929-1G>A
|
rs1180285291
|
0.00001
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)
|
rs121918050
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_022336.4(EDAR):c.266G>A (p.Arg89His)
|
rs121908450
|
0.00001
|
NC_012920.1(MT-TK):m.8313G>A
|
rs118192101
|
|
NM_001953.4(TYMP):c.929-3G>A
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs)
|
rs1064792892
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)
|
rs1060499532
|
|
NM_001953.5(TYMP):c.1088del (p.Gly363fs)
|
rs1060499535
|
|
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro)
|
rs1060499533
|
|
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)
|
rs1054084896
|
|
NM_001953.5(TYMP):c.1159+2T>A
|
rs770277446
|
|
NM_001953.5(TYMP):c.1160-1G>C
|
rs797044455
|
|
NM_001953.5(TYMP):c.1160-2A>C
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160-2A>G
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)
|
rs786205098
|
|
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)
|
rs1027855768
|
|
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)
|
rs764792655
|
|
NM_001953.5(TYMP):c.1211dup (p.Gly405fs)
|
rs1556486467
|
|
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)
|
rs1064792874
|
|
NM_001953.5(TYMP):c.1300+2T>A
|
rs1064792879
|
|
NM_001953.5(TYMP):c.1301-1G>A
|
rs773785934
|
|
NM_001953.5(TYMP):c.1311del (p.Trp437fs)
|
rs1064792889
|
|
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)
|
rs28931613
|
|
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)
|
rs1064792890
|
|
NM_001953.5(TYMP):c.1351dup (p.Gln451fs)
|
rs1556486029
|
|
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)
|
rs764275775
|
|
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del)
|
rs1064792891
|
|
NM_001953.5(TYMP):c.1410dup (p.Ser471fs)
|
rs786205097
|
|
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)
|
rs11479
|
|
NM_001953.5(TYMP):c.1431dup (p.Leu478fs)
|
rs1064792885
|
|
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)
|
rs1064792857
|
|
NM_001953.5(TYMP):c.162C>G (p.Ile54Met)
|
rs1064792858
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.263_264del (p.Thr88fs)
|
rs1064792886
|
|
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)
|
rs891107196
|
|
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
|
|
|
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)
|
rs1064792860
|
|
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)
|
rs1064792862
|
|
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)
|
rs199901350
|
|
NM_001953.5(TYMP):c.417+1G>A
|
rs1603442040
|
|
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)
|
rs1064792863
|
|
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)
|
rs1064792864
|
|
NM_001953.5(TYMP):c.516+2T>A
|
rs797044454
|
|
NM_001953.5(TYMP):c.516+2T>C
|
rs797044454
|
|
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)
|
rs1064792865
|
|
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)
|
rs1064792866
|
|
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)
|
rs121913041
|
|
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)
|
rs121913041
|
|
NM_001953.5(TYMP):c.623T>G (p.Val208Gly)
|
rs1064792867
|
|
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)
|
rs1064792868
|
|
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)
|
rs1064792869
|
|
NM_001953.5(TYMP):c.720del (p.Val241fs)
|
rs1064792887
|
|
NM_001953.5(TYMP):c.763_765del (p.Leu255del)
|
rs1556488264
|
|
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer)
|
rs1064792888
|
|
NM_001953.5(TYMP):c.847C>G (p.His283Asp)
|
rs1064792871
|
|
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
|
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_001953.5(TYMP):c.928+1G>A
|
rs1064792876
|
|
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)
|
rs121913040
|
|
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)
|
rs121913040
|
|
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)
|
rs892141220
|
|
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly)
|
rs1064792881
|
|
NM_001953.5(TYMP):c.99dup (p.Lys34fs)
|
rs1064792880
|
|
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)
|
rs2055531147
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
c.52_53delCT
|
|
|