NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)
|
rs141750466
|
0.00398
|
NM_018714.3(COG1):c.2304A>G (p.Thr768=)
|
rs147598221
|
0.00134
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg)
|
rs147588256
|
0.00034
|
NM_018714.3(COG1):c.1117G>A (p.Val373Met)
|
rs201886877
|
0.00022
|
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
|
rs142830395
|
0.00021
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
|
rs138121131
|
0.00020
|
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
|
rs1011259443
|
0.00013
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
NM_018714.3(COG1):c.265C>T (p.Arg89Cys)
|
rs766457949
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_018714.3(COG1):c.542C>T (p.Ala181Val)
|
rs534708439
|
0.00012
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.2619+11T>A
|
rs144115463
|
0.00011
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
|
rs199752799
|
0.00009
|
NM_018714.3(COG1):c.2752A>G (p.Met918Val)
|
rs201733537
|
0.00008
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)
|
rs148773959
|
0.00005
|
NM_018714.3(COG1):c.1157T>C (p.Met386Thr)
|
rs200459268
|
0.00004
|
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
|
rs769310036
|
0.00004
|
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
|
rs139330442
|
0.00003
|
NM_018714.3(COG1):c.87G>C (p.Glu29Asp)
|
rs375609831
|
0.00003
|
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
|
rs752197597
|
0.00002
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_001098832.2(VCF1):c.*1037G>A
|
rs369768700
|
0.00001
|
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly)
|
rs886053369
|
0.00001
|
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
|
rs779677895
|
0.00001
|
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
|
rs1485609633
|
0.00001
|
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
|
rs1313968056
|
0.00001
|
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
|
rs760702621
|
0.00001
|
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
|
rs1230710369
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_018714.3(COG1):c.303G>A (p.Pro101=)
|
rs886053368
|
0.00001
|
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
|
rs367884440
|
0.00001
|
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
|
rs1037256
|
|
NM_018714.3(COG1):c.200G>T (p.Gly67Val)
|
rs886053367
|
|
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
|
rs555212855
|
|
NM_018714.3(COG1):c.2605G>A (p.Val869Met)
|
rs886053370
|
|
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)
|
rs1568298983
|
|
NM_018714.3(COG1):c.26C>T (p.Ala9Val)
|
rs759369353
|
|
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)
|
rs774479733
|
|
NM_018714.3(COG1):c.2808T>C (p.Val936=)
|
rs1382677421
|
|
NM_018714.3(COG1):c.2816dup (p.Ala940fs)
|
rs776834154
|
|
NM_018714.3(COG1):c.315+10C>G
|
rs1188495993
|
|
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
|
rs1486692795
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018714.3(COG1):c.967C>A (p.His323Asn)
|
rs369505856
|
|