NM_000044.6(AR):c.1789G>A (p.Ala597Thr)
|
rs137852569
|
0.00001
|
NM_000044.6(AR):c.1847G>A (p.Arg616His)
|
rs754201976
|
0.00001
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
NM_000044.6(AR):c.2668G>A (p.Val890Met)
|
rs886041133
|
0.00001
|
NC_000023.10:g.(?_66788225)_(67021550_?)del
|
|
|
NC_000023.10:g.(?_66863078)_(66905988_?)dup
|
|
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NC_000023.10:g.(?_66863078)_(66943703_?)del
|
|
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NC_000023.10:g.(?_66905832)_(66905988_?)del
|
|
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NC_000023.10:g.(?_66931224)_(66931551_?)del
|
|
|
NC_000023.10:g.(?_66941655)_(66943683_?)del
|
|
|
NC_000023.11:g.(?_67686010)_(67686126_?)del
|
|
|
NM_000044.6(AR):c.1063G>T (p.Glu355Ter)
|
rs367604031
|
|
NM_000044.6(AR):c.1150dup (p.His384fs)
|
|
|
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)
|
|
|
NM_000044.6(AR):c.1314_1315del (p.Phe439fs)
|
rs1602144930
|
|
NM_000044.6(AR):c.1335del (p.Gln445fs)
|
rs1929749440
|
|
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
|
|
|
NM_000044.6(AR):c.1440dup (p.Tyr481fs)
|
rs1555970004
|
|
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter)
|
rs766161615
|
|
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)
|
rs766161615
|
|
NM_000044.6(AR):c.1451_1454del (p.Thr484fs)
|
rs1569265331
|
|
NM_000044.6(AR):c.1460del (p.Pro487fs)
|
rs1929773822
|
|
NM_000044.6(AR):c.1477C>T (p.Gln493Ter)
|
rs2147322621
|
|
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)
|
|
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NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
|
|
|
NM_000044.6(AR):c.1614dup (p.Arg539fs)
|
rs1569265470
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
NM_000044.6(AR):c.1707del (p.Cys570fs)
|
rs2147436378
|
|
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)
|
rs1925886715
|
|
NM_000044.6(AR):c.1724_1725del (p.Leu575fs)
|
rs1602220874
|
|
NM_000044.6(AR):c.1737del (p.Cys580fs)
|
rs2147436590
|
|
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
|
|
|
NM_000044.6(AR):c.1822C>T (p.Arg608Ter)
|
rs886041128
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
NM_000044.6(AR):c.1844del (p.Cys615fs)
|
|
|
NM_000044.6(AR):c.1885+2T>G
|
rs2147497993
|
|
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
|
rs1602272308
|
|
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
|
|
|
NM_000044.6(AR):c.1A>T (p.Met1Leu)
|
rs2147313671
|
|
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)
|
rs1555995840
|
|
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)
|
rs925822435
|
|
NM_000044.6(AR):c.2128G>A (p.Glu710Lys)
|
rs2076094436
|
|
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
|
|
|
NM_000044.6(AR):c.2162dup (p.Ala722fs)
|
|
|
NM_000044.6(AR):c.2176T>C (p.Phe726Leu)
|
rs1555996810
|
|
NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)
|
|
|
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)
|
rs2147530668
|
|
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)
|
|
|
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)
|
|
|
NM_000044.6(AR):c.2225G>T (p.Trp742Leu)
|
rs2076118553
|
|
NM_000044.6(AR):c.2231G>T (p.Gly744Val)
|
rs137852600
|
|
NM_000044.6(AR):c.2248A>G (p.Met750Val)
|
rs1085307685
|
|
NM_000044.6(AR):c.2255G>A (p.Trp752Ter)
|
rs2147530924
|
|
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)
|
|
|
NM_000044.6(AR):c.2257C>T (p.Arg753Ter)
|
rs886039558
|
|
NM_000044.6(AR):c.2268del (p.Asn757fs)
|
|
|
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)
|
rs1555996863
|
|
NM_000044.6(AR):c.2318+1G>C
|
rs1569314508
|
|
NM_000044.6(AR):c.2319-1G>C
|
|
|
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter)
|
rs2147535489
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2324G>A (p.Arg775His)
|
rs137852572
|
|
NM_000044.6(AR):c.2338C>T (p.Arg780Trp)
|
rs2076137289
|
|
NM_000044.6(AR):c.2359C>T (p.Arg787Ter)
|
rs1555997580
|
|
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)
|
rs137852565
|
|
NM_000044.6(AR):c.2407del (p.Gln803fs)
|
|
|
NM_000044.6(AR):c.2450-6C>G
|
rs754515125
|
|
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
|
|
|
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)
|
rs1386577803
|
|
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
|
|
|
NM_000044.6(AR):c.2512G>T (p.Glu838Ter)
|
rs1555997775
|
|
NM_000044.6(AR):c.2515C>A (p.Leu839Ile)
|
rs2147537918
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
|
rs9332970
|
|
NM_000044.6(AR):c.2546dup (p.Asn849fs)
|
rs1602279488
|
|
NM_000044.6(AR):c.2566C>T (p.Arg856Cys)
|
rs886041132
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
|
NM_000044.6(AR):c.2677C>T (p.Pro893Ser)
|
|
|
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
|
rs1602280356
|
|
NM_000044.6(AR):c.2750del (p.Phe917fs)
|
rs2147540838
|
|
NM_000044.6(AR):c.292C>T (p.Gln98Ter)
|
rs1555969553
|
|
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
|
|
|
NM_000044.6(AR):c.321C>A (p.Tyr107Ter)
|
rs1481151440
|
|
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
|
|
|
NM_000044.6(AR):c.358C>T (p.Gln120Ter)
|
rs1929683441
|
|
NM_000044.6(AR):c.463G>T (p.Glu155Ter)
|
rs764126853
|
|
NM_000044.6(AR):c.546dup (p.Asp183fs)
|
|
|
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
|
|
|
NM_000044.6(AR):c.733del (p.Val245fs)
|
|
|
NM_000044.6(AR):c.749dup (p.Val251fs)
|
rs1555969684
|
|
NM_000044.6(AR):c.756_765del (p.Glu252fs)
|
rs1602144034
|
|
NM_000044.6(AR):c.829_833dup (p.Val279fs)
|
rs2147318663
|
|
NM_000044.6(AR):c.830_845dup (p.Pro283fs)
|
rs1569264288
|
|
NM_000044.6(AR):c.967G>T (p.Glu323Ter)
|
|
|