|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
|
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
0.00029
|
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
|
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)
|
rs201439705
|
0.00013
|
|
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser)
|
rs377071680
|
0.00011
|
|
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp)
|
rs753684563
|
0.00009
|
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
|
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)
|
rs1452778513
|
0.00006
|
|
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu)
|
rs148525453
|
0.00004
|
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
|
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser)
|
rs879945095
|
0.00004
|
|
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)
|
rs886158091
|
0.00002
|
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
|
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu)
|
rs760596229
|
0.00001
|
|
NM_000232.5(SGCB):c.429+5G>A
|
rs794727477
|
0.00001
|
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
|
NM_000232.5(SGCB):c.502A>G (p.Met168Val)
|
rs754465904
|
0.00001
|
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
|
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys)
|
rs529566743
|
0.00001
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
|
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg)
|
rs1456517729
|
|
|
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
|
|
|
|
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
|
|
|
|
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
|
|
|
|
NM_000232.5(SGCB):c.243+1548T>C
|
|
|
|
NM_000232.5(SGCB):c.243+1G>T
|
rs1553940663
|
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
|
NM_000232.5(SGCB):c.275T>C (p.Ile92Thr)
|
|
|
|
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
|
|
|
|
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala)
|
rs1018529334
|
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
|
NM_000232.5(SGCB):c.346A>G (p.Met116Val)
|
rs752168132
|
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
|
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
|
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
|
|
|
|
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp)
|
rs1560567653
|
|
|
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
|
|
|
|
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
|
|
|
|
NM_000232.5(SGCB):c.539del (p.Phe180fs)
|
rs1737176330
|
|
|
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
|
|
|
|
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
|
|
|
|
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
|
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
|
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
|
|
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
|
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
|
|
|
|
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
|
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|