NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001083116.3(PRF1):c.1314T>A (p.Tyr438Ter)
|
rs1431972351
|
0.00004
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)
|
rs189650890
|
0.00003
|
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)
|
rs751161742
|
0.00002
|
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)
|
rs200430442
|
0.00002
|
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)
|
rs758728749
|
0.00002
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)
|
rs104894182
|
0.00002
|
NM_001083116.3(PRF1):c.921del (p.His308fs)
|
rs777345151
|
0.00002
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)
|
rs771552960
|
0.00001
|
NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter)
|
rs768953378
|
0.00001
|
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)
|
rs28933376
|
0.00001
|
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg)
|
rs578092914
|
0.00001
|
NM_001083116.3(PRF1):c.626A>C (p.Gln209Pro)
|
rs146414576
|
0.00001
|
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)
|
rs776571416
|
0.00001
|
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)
|
rs28933973
|
0.00001
|
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)
|
rs771076819
|
0.00001
|
NC_000010.11:g.(?_70598033)_(70600922_?)del
|
|
|
NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly)
|
rs2132475924
|
|
NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu)
|
rs28933374
|
|
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
|
|
|
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
|
|
|
NM_001083116.3(PRF1):c.1103_1110dup (p.Arg371Ter)
|
rs2132475735
|
|
NM_001083116.3(PRF1):c.1126del (p.Asp376fs)
|
|
|
NM_001083116.3(PRF1):c.1156C>T (p.Gln386Ter)
|
|
|
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter)
|
rs760379846
|
|
NM_001083116.3(PRF1):c.1189_1190del (p.Cys397fs)
|
|
|
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)
|
rs1361687182
|
|
NM_001083116.3(PRF1):c.1213C>T (p.Gln405Ter)
|
|
|
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
|
|
|
NM_001083116.3(PRF1):c.1231C>T (p.Gln411Ter)
|
|
|
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)
|
rs193302876
|
|
NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)
|
|
|
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
|
|
|
NM_001083116.3(PRF1):c.1283G>A (p.Trp428Ter)
|
|
|
NM_001083116.3(PRF1):c.1286G>A (p.Gly429Glu)
|
rs104894181
|
|
NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter)
|
rs1564723653
|
|
NM_001083116.3(PRF1):c.1406_1428del (p.Asp469fs)
|
|
|
NM_001083116.3(PRF1):c.1422_1423del (p.Gly476fs)
|
|
|
NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)
|
|
|
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
|
|
|
NM_001083116.3(PRF1):c.1428dup (p.Pro477fs)
|
|
|
NM_001083116.3(PRF1):c.1448G>A (p.Trp483Ter)
|
|
|
NM_001083116.3(PRF1):c.1451del (p.Asp484fs)
|
|
|
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
|
|
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
|
|
|
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs)
|
rs774071705
|
|
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter)
|
rs104894180
|
|
NM_001083116.3(PRF1):c.1A>G (p.Met1Val)
|
rs1848222357
|
|
NM_001083116.3(PRF1):c.207del (p.Asp70fs)
|
rs786205093
|
|
NM_001083116.3(PRF1):c.218_224del (p.Cys73fs)
|
|
|
NM_001083116.3(PRF1):c.241C>T (p.Gln81Ter)
|
|
|
NM_001083116.3(PRF1):c.285G>A (p.Trp95Ter)
|
|
|
NM_001083116.3(PRF1):c.2T>C (p.Met1Thr)
|
rs2132478901
|
|
NM_001083116.3(PRF1):c.327del (p.Val111fs)
|
|
|
NM_001083116.3(PRF1):c.329_330del (p.Lys110fs)
|
|
|
NM_001083116.3(PRF1):c.431_434del (p.His144fs)
|
|
|
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
|
|
|
NM_001083116.3(PRF1):c.487del (p.His163fs)
|
rs1848204643
|
|
NM_001083116.3(PRF1):c.490C>T (p.Gln164Ter)
|
|
|
NM_001083116.3(PRF1):c.501C>G (p.Tyr167Ter)
|
rs2132477913
|
|
NM_001083116.3(PRF1):c.539+2T>A
|
|
|
NM_001083116.3(PRF1):c.548T>G (p.Val183Gly)
|
rs104894183
|
|
NM_001083116.3(PRF1):c.563dup (p.Leu189fs)
|
rs1454231642
|
|
NM_001083116.3(PRF1):c.625C>T (p.Gln209Ter)
|
|
|
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
|
|
|
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg)
|
rs776571416
|
|
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
|
|
|
NM_001083116.3(PRF1):c.65dup (p.Cys23fs)
|
|
|
NM_001083116.3(PRF1):c.808_812del (p.Gly270fs)
|
rs2132476381
|
|
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)
|
rs745902829
|
|
NM_001083116.3(PRF1):c.858del (p.His286fs)
|
|
|
NM_001083116.3(PRF1):c.880del (p.Gln294fs)
|
|
|
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
|
|
|
NM_001083116.3(PRF1):c.894_895delinsTT (p.Glu298_Arg299delinsAspCys)
|
|
|
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)
|
rs1259291325
|
|
NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)
|
|
|
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)
|
|
|
NM_001083116.3(PRF1):c.984G>A (p.Trp328Ter)
|
|
|
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)
|
rs886042160
|
|