NM_000388.4(CASR):c.2383C>T (p.Arg795Trp)
|
rs121909258
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.115C>G (p.Pro39Ala)
|
rs121909262
|
|
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln)
|
rs104893716
|
|
NM_000388.4(CASR):c.141A>C (p.Lys47Asn)
|
rs104893702
|
|
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg)
|
rs104893719
|
|
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr)
|
rs104893690
|
|
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe)
|
rs104893690
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser)
|
rs104893698
|
|
NM_000388.4(CASR):c.1846C>G (p.Leu616Val)
|
rs104893703
|
|
NM_000388.4(CASR):c.185G>T (p.Arg62Met)
|
rs121909265
|
|
NM_000388.4(CASR):c.186-1G>T
|
rs797044441
|
|
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter)
|
rs104893705
|
|
NM_000388.4(CASR):c.196C>T (p.Arg66Cys)
|
rs121909266
|
|
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu)
|
rs104893700
|
|
NM_000388.4(CASR):c.2043G>T (p.Gln681His)
|
rs121909261
|
|
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln)
|
rs104893718
|
|
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs)
|
rs869320729
|
|
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg)
|
rs104893699
|
|
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu)
|
rs104893711
|
|
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)
|
rs104893701
|
|
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser)
|
rs104893693
|
|
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe)
|
rs104893710
|
|
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.2657G>C (p.Arg886Pro)
|
rs1057520791
|
|
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del)
|
rs1553769169
|
|
NM_000388.4(CASR):c.280G>T (p.Gly94Ter)
|
rs104893709
|
|
NM_000388.4(CASR):c.346G>A (p.Ala116Thr)
|
rs104893691
|
|
NM_000388.4(CASR):c.354C>A (p.Asn118Lys)
|
rs104893695
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.380A>C (p.Glu127Ala)
|
rs121909260
|
|
NM_000388.4(CASR):c.382T>C (p.Phe128Leu)
|
rs104893696
|
|
NM_000388.4(CASR):c.38T>C (p.Leu13Pro)
|
rs104893717
|
|
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)
|
rs121909267
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.428G>A (p.Gly143Glu)
|
rs121909264
|
|
NM_000388.4(CASR):c.452C>T (p.Thr151Met)
|
rs104893694
|
|
NM_000388.4(CASR):c.539T>G (p.Phe180Cys)
|
rs121909268
|
|
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)
|
rs104893707
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.571G>A (p.Glu191Lys)
|
rs104893697
|
|
NM_000388.4(CASR):c.662C>A (p.Pro221Gln)
|
rs397514728
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000388.4(CASR):c.85A>G (p.Lys29Glu)
|
rs397514729
|
|
NM_000388.4(CASR):c.889G>A (p.Glu297Lys)
|
rs121909259
|
|
NM_000388.4:c.2628_2629insAlu
|
|
|