NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.2039G>A (p.Arg680His)
|
rs773146939
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
NC_000003.12:g.(?_122282103)_(122285191_?)del
|
|
|
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg)
|
rs1057517712
|
|
NM_000388.4(CASR):c.1377+1G>A
|
|
|
NM_000388.4(CASR):c.1377+1G>T
|
rs2074639464
|
|
NM_000388.4(CASR):c.1378-1G>C
|
rs2074810403
|
|
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg)
|
rs193922423
|
|
NM_000388.4(CASR):c.1608+1G>A
|
|
|
NM_000388.4(CASR):c.1608+2T>C
|
|
|
NM_000388.4(CASR):c.1609-2A>G
|
rs761084315
|
|
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys)
|
rs1060502861
|
|
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr)
|
rs2074897929
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu)
|
rs1576875835
|
|
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser)
|
rs2074920676
|
|
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
|
|
|
NM_000388.4(CASR):c.185+1G>A
|
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
NM_000388.4(CASR):c.197G>A (p.Arg66His)
|
rs1276839362
|
|
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys)
|
rs1553769052
|
|
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys)
|
rs2074935748
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)
|
rs794729230
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn)
|
rs2107650645
|
|
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)
|
rs104893706
|
|
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu)
|
rs104893704
|
|
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
|
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.492+2T>C
|
|
|
NM_000388.4(CASR):c.493-2A>C
|
rs1576857818
|
|
NM_000388.4(CASR):c.493-2A>G
|
rs1576857818
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000388.4(CASR):c.659G>A (p.Arg220Gln)
|
rs1202110240
|
|
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln)
|
rs587777020
|
|