NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)
|
rs104895321
|
0.00021
|
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
|
rs104895382
|
0.00007
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000431.4(MVK):c.802A>G (p.Ile268Val)
|
rs759997079
|
0.00003
|
NM_000431.4(MVK):c.748G>A (p.Val250Ile)
|
rs104895339
|
0.00002
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)
|
rs104895358
|
0.00001
|
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)
|
rs775474803
|
0.00001
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)
|
rs104895301
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000431.4(MVK):c.614A>G (p.Asn205Ser)
|
rs767853272
|
0.00001
|
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)
|
rs104895366
|
0.00001
|
NM_000431.4(MVK):c.721C>T (p.Arg241Cys)
|
rs758427037
|
0.00001
|
NM_000431.4(MVK):c.873C>A (p.Tyr291Ter)
|
rs1566150887
|
0.00001
|
NC_000012.11:g.(?_110012646)_110013970del
|
|
|
NM_000431.4(MVK):c.1039+1G>C
|
|
|
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg)
|
rs1555279757
|
|
NM_000431.4(MVK):c.249del (p.Thr84fs)
|
|
|
NM_000431.4(MVK):c.349_350del (p.Leu117fs)
|
rs1593015642
|
|
NM_000431.4(MVK):c.439G>A (p.Ala147Thr)
|
rs104895363
|
|
NM_000431.4(MVK):c.494C>T (p.Pro165Leu)
|
rs121917790
|
|
NM_000431.4(MVK):c.500C>A (p.Pro167Gln)
|
|
|
NM_000431.4(MVK):c.52G>A (p.Gly18Arg)
|
|
|
NM_000431.4(MVK):c.545T>A (p.Leu182Ter)
|
rs1566147222
|
|
NM_000431.4(MVK):c.60T>A (p.His20Gln)
|
rs104895335
|
|
NM_000431.4(MVK):c.62C>T (p.Ala21Val)
|
rs2136216750
|
|
NM_000431.4(MVK):c.632-2A>C
|
|
|
NM_000431.4(MVK):c.677+1G>T
|
|
|
NM_000431.4(MVK):c.689_690del (p.Leu230fs)
|
rs1593026935
|
|
NM_000431.4(MVK):c.768+4A>G
|
rs1295630463
|
|
NM_000431.4(MVK):c.768+71C>A
|
|
|
NM_000431.4(MVK):c.78+1G>A
|
rs1884864809
|
|
NM_000431.4(MVK):c.79-2A>G
|
rs1884932883
|
|
NM_000431.4(MVK):c.794T>G (p.Leu265Arg)
|
rs104895316
|
|
NM_000431.4(MVK):c.799T>C (p.Ser267Pro)
|
rs1885666876
|
|
NM_000431.4(MVK):c.850del (p.Glu284fs)
|
rs1885671620
|
|
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)
|
|
|
NM_000431.4(MVK):c.904C>T (p.Gln302Ter)
|
rs886048933
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
|
|
|
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
|
rs776735249
|
|