NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)
|
rs879253826
|
0.00003
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.1084-1G>A
|
rs879253838
|
|
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)
|
rs879253840
|
|
NM_000255.4(MMUT):c.1181dup (p.Leu394fs)
|
rs879253841
|
|
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu)
|
rs879253842
|
|
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu)
|
rs533755473
|
|
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter)
|
rs879253825
|
|
NM_000255.4(MMUT):c.1333-20_1333-9del
|
rs879253843
|
|
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter)
|
rs879253844
|
|
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val)
|
rs879253845
|
|
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
|
|
|
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro)
|
rs879253846
|
|
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly)
|
rs879253847
|
|
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)
|
rs879253848
|
|
NM_000255.4(MMUT):c.2078del (p.Gly693fs)
|
rs879253849
|
|
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs)
|
rs879253850
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)
|
rs879253852
|
|
NM_000255.4(MMUT):c.2T>C (p.Met1Thr)
|
rs879253820
|
|
NM_000255.4(MMUT):c.30dup (p.Leu11fs)
|
rs879253821
|
|
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys)
|
rs879253827
|
|
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg)
|
rs879253828
|
|
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn)
|
rs879253829
|
|
NM_000255.4(MMUT):c.467A>T (p.Asp156Val)
|
rs757000253
|
|
NM_000255.4(MMUT):c.55dup (p.Val19fs)
|
rs879253823
|
|
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser)
|
rs879253830
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del)
|
rs879253831
|
|
NM_000255.4(MMUT):c.630del (p.Glu211fs)
|
rs879253832
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)
|
rs747777227
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp)
|
rs12175488
|
|
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg)
|
rs761477436
|
|
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu)
|
rs879253835
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter)
|
rs879253836
|
|
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp)
|
rs879253837
|
|
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys)
|
rs758577372
|
|