NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)
|
rs376632263
|
0.00011
|
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)
|
rs369066088
|
0.00006
|
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)
|
rs372511229
|
0.00006
|
NM_001363.5(DKC1):c.259A>G (p.Ile87Val)
|
rs782202263
|
0.00005
|
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
|
rs782631659
|
0.00004
|
NM_001363.5(DKC1):c.84C>T (p.Ala28=)
|
rs142474971
|
0.00004
|
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)
|
rs782598355
|
0.00003
|
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala)
|
rs781923825
|
0.00002
|
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)
|
rs781849751
|
0.00002
|
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val)
|
rs781943265
|
0.00001
|
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)
|
rs1347625639
|
0.00001
|
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)
|
rs782193188
|
0.00001
|
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)
|
rs782117503
|
0.00001
|
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)
|
rs370788135
|
0.00001
|
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)
|
rs1557265697
|
0.00001
|
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn)
|
rs1557265768
|
0.00001
|
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn)
|
rs1370393255
|
0.00001
|
NM_001363.5(DKC1):c.537C>G (p.Ala179=)
|
rs782697778
|
0.00001
|
NM_001363.5(DKC1):c.640+3G>A
|
rs1557264306
|
0.00001
|
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)
|
rs140273992
|
0.00001
|
NC_000023.10:g.(?_153991099)_(154005162_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(153993815_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(154005142_?)dup
|
|
|
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val)
|
rs958540765
|
|
NM_001363.5(DKC1):c.1036+6_1036+7del
|
rs1557264868
|
|
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val)
|
rs1248744087
|
|
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
|
|
|
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly)
|
rs2148515101
|
|
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln)
|
rs2148515114
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met)
|
rs2148516382
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
|
|
|
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)
|
rs2071881185
|
|
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
|
|
|
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
|
|
|
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
|
|
|
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
|
|
|
NM_001363.5(DKC1):c.1338+3G>C
|
|
|
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg)
|
rs2148517505
|
|
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro)
|
rs1289430524
|
|
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser)
|
rs2071893601
|
|
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
|
|
|
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr)
|
rs782434084
|
|
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
|
|
|
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
|
|
|
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
|
|
|
NM_001363.5(DKC1):c.1477-14_1477-11del
|
|
|
NM_001363.5(DKC1):c.1477-1G>C
|
rs2148517984
|
|
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn)
|
rs1557265783
|
|
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)
|
rs186518477
|
|
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
|
rs2071739379
|
|
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
|
|
|
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg)
|
rs2148509751
|
|
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
|
|
|
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)
|
rs2148509772
|
|
NM_001363.5(DKC1):c.263+6T>C
|
rs2071741038
|
|
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr)
|
rs2148509897
|
|
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln)
|
rs1036880108
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
|
|
|
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
|
|
|
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
|
rs782201995
|
|
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr)
|
rs2071754474
|
|
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)
|
rs782159247
|
|
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)
|
rs782622660
|
|
NM_001363.5(DKC1):c.52_54del (p.Glu18del)
|
rs2071726998
|
|
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
|
|
|
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
|
|
|
NM_001363.5(DKC1):c.568G>A (p.Val190Ile)
|
rs2071758363
|
|
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)
|
rs2071759206
|
|
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
|
|
|
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
|
|
|
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys)
|
rs2148509194
|
|
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
|
|
|
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
|
|
|
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
|
|
|
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
|
|
|
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)
|
rs2071791712
|
|
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
|
|
|
NM_001363.5(DKC1):c.948G>T (p.Met316Ile)
|
rs2148513624
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_001363.5(DKC1):c.979A>G (p.Ile327Val)
|
rs2071814299
|
|
NM_001363.5(DKC1):c.985G>A (p.Val329Ile)
|
rs2071814456
|
|
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
|
|
|