NM_000515.5(GH1):c.116C>T (p.Ala39Val)
|
rs151263636
|
0.00985
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_000515.5(GH1):c.217A>G (p.Asn73Asp)
|
rs71640276
|
0.00027
|
NM_000515.5(GH1):c.246G>C (p.Glu82Asp)
|
rs61762497
|
0.00009
|
NM_000515.5(GH1):c.309C>T (p.Arg103=)
|
rs886053236
|
0.00001
|
NM_000515.5(GH1):c.502A>T (p.Thr168Ser)
|
rs771280061
|
0.00001
|
NM_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
0.00001
|
NM_000515.4(GH1):c.-68A>G
|
rs6171
|
|
NM_000515.5(GH1):c.-4T>G
|
rs6173
|
|
NM_000515.5(GH1):c.-63A>C
|
rs695
|
|
NM_000515.5(GH1):c.-63A>T
|
rs695
|
|
NM_000515.5(GH1):c.131A>C (p.His44Pro)
|
rs754126557
|
|
NM_000515.5(GH1):c.172-2A>T
|
rs863223309
|
|
NM_000515.5(GH1):c.172G>A (p.Glu58Lys)
|
rs2144739391
|
|
NM_000515.5(GH1):c.173A>C (p.Glu58Ala)
|
rs2144739380
|
|
NM_000515.5(GH1):c.176A>G (p.Glu59Gly)
|
rs2144739370
|
|
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu)
|
rs1907477324
|
|
NM_000515.5(GH1):c.236G>C (p.Cys79Ser)
|
rs137853222
|
|
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
|
|
|
NM_000515.5(GH1):c.254C>T (p.Pro85Leu)
|
rs1567803095
|
|
NM_000515.5(GH1):c.291+1G>A
|
rs71640277
|
|
NM_000515.5(GH1):c.291+1G>C
|
rs71640277
|
|
NM_000515.5(GH1):c.291+28G>A
|
rs863223306
|
|
NM_000515.5(GH1):c.291+29_291+46del
|
rs2144738731
|
|
NM_000515.5(GH1):c.291+2T>C
|
rs863223310
|
|
NM_000515.5(GH1):c.291+5G>A
|
rs863223307
|
|
NM_000515.5(GH1):c.291+6T>C
|
rs797044450
|
|
NM_000515.5(GH1):c.292-37_292-16del
|
|
|
NM_000515.5(GH1):c.302T>C (p.Leu101Pro)
|
rs1907452711
|
|
NM_000515.5(GH1):c.307C>T (p.Arg103Cys)
|
rs137853220
|
|
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
|
|
|
NM_000515.5(GH1):c.413A>G (p.Asp138Gly)
|
rs137853221
|
|
NM_000515.5(GH1):c.452T>C (p.Met151Thr)
|
rs1180054712
|
|
NM_000515.5(GH1):c.456+19G>T
|
rs61735351
|
|
NM_000515.5(GH1):c.456+1G>C
|
rs797044449
|
|
NM_000515.5(GH1):c.456+1G>T
|
rs797044449
|
|
NM_000515.5(GH1):c.456+5G>C
|
rs863223308
|
|
NM_000515.5(GH1):c.52del (p.Leu18fs)
|
|
|
NM_000515.5(GH1):c.588G>A (p.Met196Ile)
|
rs1907385621
|
|
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)
|
rs137853219
|
|
NM_000515.5(GH1):c.7A>G (p.Thr3Ala)
|
rs2001345
|
|