NC_000002.12:g.(?_151496266)_(151497728_?)del
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NC_000002.12:g.(?_151496921)_(151497053_?)del
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NC_000002.12:g.(?_151496921)_(151497738_?)del
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NC_000002.12:g.(?_151496931)_(151497043_?)del
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NM_001271208.1(NEB):c.21213_21218del (p.Tyr7072_Lys7073del)
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rs1553683577 |
NM_001271208.2(NEB):c.10005G>A (p.Met3335Ile)
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NM_001271208.2(NEB):c.10021G>T (p.Ala3341Ser)
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rs1574279999 |
NM_001271208.2(NEB):c.10026G>C (p.Lys3342Asn)
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rs117636679 |
NM_001271208.2(NEB):c.10029G>C (p.Lys3343Asn)
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rs183321773 |
NM_001271208.2(NEB):c.10037C>T (p.Thr3346Ile)
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rs1560628791 |
NM_001271208.2(NEB):c.10075G>A (p.Glu3359Lys)
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rs374359052 |
NM_001271208.2(NEB):c.10080G>T (p.Trp3360Cys)
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rs1574278301 |
NM_001271208.2(NEB):c.10082C>T (p.Thr3361Met)
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NM_001271208.2(NEB):c.10087C>A (p.Leu3363Met)
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NM_001271208.2(NEB):c.10112A>G (p.His3371Arg)
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NM_001271208.2(NEB):c.10118G>A (p.Arg3373Gln)
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rs568814745 |
NM_001271208.2(NEB):c.10127A>G (p.Tyr3376Cys)
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rs754298562 |
NM_001271208.2(NEB):c.10141G>A (p.Asp3381Asn)
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rs374760449 |
NM_001271208.2(NEB):c.10144-10_10144-9delinsG
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rs1553928417 |
NM_001271208.2(NEB):c.1015G>A (p.Ala339Thr)
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rs762993577 |
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr)
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rs376182104 |
NM_001271208.2(NEB):c.10196T>C (p.Ile3399Thr)
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rs377734027 |
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr)
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rs199847072 |
NM_001271208.2(NEB):c.10213G>T (p.Val3405Phe)
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rs1553927988 |
NM_001271208.2(NEB):c.10217A>G (p.Lys3406Arg)
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rs1574259964 |
NM_001271208.2(NEB):c.10223A>G (p.Lys3408Arg)
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rs762891609 |
NM_001271208.2(NEB):c.10228G>A (p.Ala3410Thr)
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rs1298375132 |
NM_001271208.2(NEB):c.10231G>A (p.Ala3411Thr)
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rs727504034 |
NM_001271208.2(NEB):c.10231G>T (p.Ala3411Ser)
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rs727504034 |
NM_001271208.2(NEB):c.10258C>T (p.Arg3420Cys)
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rs201596787 |
NM_001271208.2(NEB):c.10299C>G (p.Asp3433Glu)
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rs180847025 |
NM_001271208.2(NEB):c.10347G>A (p.Lys3449=)
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NM_001271208.2(NEB):c.10348C>T (p.Arg3450Cys)
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rs200462308 |
NM_001271208.2(NEB):c.1035+6A>G
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rs1577251081 |
NM_001271208.2(NEB):c.10358C>A (p.Thr3453Lys)
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NM_001271208.2(NEB):c.10382C>A (p.Thr3461Asn)
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NM_001271208.2(NEB):c.10393A>G (p.Ile3465Val)
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NM_001271208.2(NEB):c.10419G>A (p.Met3473Ile)
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NM_001271208.2(NEB):c.10419G>T (p.Met3473Ile)
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NM_001271208.2(NEB):c.10423G>T (p.Ala3475Ser)
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NM_001271208.2(NEB):c.10433A>G (p.Asn3478Ser)
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rs1246003078 |
NM_001271208.2(NEB):c.10452+5G>A
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rs370685957 |
NM_001271208.2(NEB):c.1045A>C (p.Lys349Gln)
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rs369153778 |
NM_001271208.2(NEB):c.10462C>T (p.Arg3488Cys)
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NM_001271208.2(NEB):c.10471A>G (p.Met3491Val)
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NM_001271208.2(NEB):c.104C>T (p.Thr35Met)
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NM_001271208.2(NEB):c.10537G>A (p.Ala3513Thr)
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rs1560541262 |
NM_001271208.2(NEB):c.10583G>A (p.Arg3528His)
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rs199584268 |
NM_001271208.2(NEB):c.10589A>T (p.Gln3530Leu)
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NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr)
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rs556492694 |
NM_001271208.2(NEB):c.10657G>T (p.Ala3553Ser)
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NM_001271208.2(NEB):c.10660A>G (p.Lys3554Glu)
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rs1553912139 |
NM_001271208.2(NEB):c.10676G>A (p.Arg3559His)
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rs376558062 |
NM_001271208.2(NEB):c.10706A>G (p.Lys3569Arg)
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rs371572709 |
NM_001271208.2(NEB):c.10802A>G (p.His3601Arg)
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rs371568550 |
NM_001271208.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
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rs1573936944 |
NM_001271208.2(NEB):c.10819C>A (p.Pro3607Thr)
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NM_001271208.2(NEB):c.10846C>T (p.Arg3616Trp)
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NM_001271208.2(NEB):c.10856A>G (p.Tyr3619Cys)
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rs1049205301 |
NM_001271208.2(NEB):c.10860C>A (p.Asp3620Glu)
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rs748243107 |
NM_001271208.2(NEB):c.10861C>G (p.Leu3621Val)
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rs1573934764 |
NM_001271208.2(NEB):c.10872C>T (p.Asp3624=)
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NM_001271208.2(NEB):c.10880A>G (p.Tyr3627Cys)
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NM_001271208.2(NEB):c.10910T>C (p.Ile3637Thr)
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NM_001271208.2(NEB):c.10913G>T (p.Gly3638Val)
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rs370161504 |
NM_001271208.2(NEB):c.10925T>C (p.Ile3642Thr)
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NM_001271208.2(NEB):c.10955G>A (p.Arg3652Lys)
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rs1553908653 |
NM_001271208.2(NEB):c.10992G>C (p.Gln3664His)
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NM_001271208.2(NEB):c.11005C>A (p.Leu3669Met)
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NM_001271208.2(NEB):c.11033C>T (p.Pro3678Leu)
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NM_001271208.2(NEB):c.11072A>G (p.Asn3691Ser)
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rs1184035076 |
NM_001271208.2(NEB):c.11077C>T (p.Arg3693Cys)
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rs539139958 |
NM_001271208.2(NEB):c.11078G>A (p.Arg3693His)
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rs368915047 |
NM_001271208.2(NEB):c.11116A>G (p.Ile3706Val)
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rs199551865 |
NM_001271208.2(NEB):c.11181+3A>G
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rs1448725511 |
NM_001271208.2(NEB):c.11221G>A (p.Gly3741Ser)
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rs375657086 |
NM_001271208.2(NEB):c.11234G>T (p.Arg3745Leu)
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rs765379397 |
NM_001271208.2(NEB):c.11300A>G (p.Lys3767Arg)
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rs761139484 |
NM_001271208.2(NEB):c.11312G>T (p.Arg3771Leu)
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rs374486286 |
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr)
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rs200270156 |
NM_001271208.2(NEB):c.11367G>T (p.Met3789Ile)
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NM_001271208.2(NEB):c.11371T>C (p.Trp3791Arg)
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NM_001271208.2(NEB):c.11417A>G (p.Lys3806Arg)
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NM_001271208.2(NEB):c.11440A>G (p.Lys3814Glu)
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rs1553897365 |
NM_001271208.2(NEB):c.11450G>A (p.Ser3817Asn)
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rs776337697 |
NM_001271208.2(NEB):c.11467G>C (p.Gly3823Arg)
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rs1489953672 |
NM_001271208.2(NEB):c.11498T>C (p.Leu3833Pro)
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NM_001271208.2(NEB):c.11506G>T (p.Asp3836Tyr)
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NM_001271208.2(NEB):c.1152+5G>A
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rs111404077 |
NM_001271208.2(NEB):c.1152C>T (p.Asp384=)
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rs767328072 |
NM_001271208.2(NEB):c.11533G>C (p.Glu3845Gln)
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NM_001271208.2(NEB):c.11540C>A (p.Thr3847Asn)
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NM_001271208.2(NEB):c.11570A>G (p.Gln3857Arg)
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NM_001271208.2(NEB):c.11575C>T (p.Arg3859Trp)
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rs562669490 |
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser)
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rs750748717 |
NM_001271208.2(NEB):c.1162A>G (p.Lys388Glu)
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rs1159204491 |
NM_001271208.2(NEB):c.11636G>A (p.Gly3879Asp)
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NM_001271208.2(NEB):c.11654T>A (p.Ile3885Asn)
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rs1367960856 |
NM_001271208.2(NEB):c.11671G>A (p.Glu3891Lys)
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NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly)
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rs1015014078 |
NM_001271208.2(NEB):c.11716C>T (p.Arg3906Cys)
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NM_001271208.2(NEB):c.11717G>A (p.Arg3906His)
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NM_001271208.2(NEB):c.11755G>A (p.Asp3919Asn)
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rs201483656 |
NM_001271208.2(NEB):c.11777C>G (p.Ala3926Gly)
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rs754671742 |
NM_001271208.2(NEB):c.11798T>C (p.Met3933Thr)
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rs772235127 |
NM_001271208.2(NEB):c.11806-7C>A
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rs779713133 |
NM_001271208.2(NEB):c.11843C>T (p.Ser3948Phe)
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NM_001271208.2(NEB):c.1187C>T (p.Ala396Val)
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rs369957704 |
NM_001271208.2(NEB):c.11884A>C (p.Lys3962Gln)
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NM_001271208.2(NEB):c.11891A>T (p.Asn3964Ile)
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rs1560398552 |
NM_001271208.2(NEB):c.11893T>G (p.Ser3965Ala)
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NM_001271208.2(NEB):c.11900A>G (p.Asn3967Ser)
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NM_001271208.2(NEB):c.11910+3A>G
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NM_001271208.2(NEB):c.11949_11957dup (p.Asp3986_Leu3987insGluAspTyr)
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NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys)
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rs745504838 |
NM_001271208.2(NEB):c.11974A>G (p.Ile3992Val)
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rs1465332264 |
NM_001271208.2(NEB):c.11980A>G (p.Ile3994Val)
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rs751650751 |
NM_001271208.2(NEB):c.11988T>A (p.Ser3996Arg)
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NM_001271208.2(NEB):c.12010G>A (p.Ala4004Thr)
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NM_001271208.2(NEB):c.1209G>T (p.Glu403Asp)
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rs1576715880 |
NM_001271208.2(NEB):c.1211C>T (p.Thr404Ile)
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rs200585609 |
NM_001271208.2(NEB):c.12176C>G (p.Ser4059Cys)
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rs1475951452 |
NM_001271208.2(NEB):c.12200T>C (p.Ile4067Thr)
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rs746008098 |
NM_001271208.2(NEB):c.1221C>G (p.Phe407Leu)
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rs1033938609 |
NM_001271208.2(NEB):c.12234T>A (p.Thr4078=)
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rs752937326 |
NM_001271208.2(NEB):c.12239T>C (p.Ile4080Thr)
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rs557283717 |
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys)
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rs368383341 |
NM_001271208.2(NEB):c.12248G>A (p.Arg4083His)
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rs376019368 |
NM_001271208.2(NEB):c.12251A>G (p.Asn4084Ser)
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rs761668198 |
NM_001271208.2(NEB):c.1225C>T (p.Leu409Phe)
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rs373883986 |
NM_001271208.2(NEB):c.12279G>A (p.Pro4093=)
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rs367638234 |
NM_001271208.2(NEB):c.12288C>A (p.Asn4096Lys)
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NM_001271208.2(NEB):c.12298C>G (p.Gln4100Glu)
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rs373829936 |
NM_001271208.2(NEB):c.1229A>C (p.Asp410Ala)
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rs1576715183 |
NM_001271208.2(NEB):c.12369C>G (p.Ile4123Met)
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rs1277282343 |
NM_001271208.2(NEB):c.12370G>A (p.Gly4124Ser)
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rs1227592399 |
NM_001271208.2(NEB):c.12382G>A (p.Glu4128Lys)
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rs1553877949 |
NM_001271208.2(NEB):c.12395A>G (p.Glu4132Gly)
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rs1553877904 |
NM_001271208.2(NEB):c.12406G>A (p.Val4136Met)
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rs1553877868 |
NM_001271208.2(NEB):c.12407T>G (p.Val4136Gly)
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rs1553877860 |
NM_001271208.2(NEB):c.12413T>G (p.Val4138Gly)
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rs1553877811 |
NM_001271208.2(NEB):c.12443A>G (p.Tyr4148Cys)
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rs1553877721 |
NM_001271208.2(NEB):c.12490C>T (p.Pro4164Ser)
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rs1553877565 |
NM_001271208.2(NEB):c.12511G>A (p.Ala4171Thr)
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rs1420479305 |
NM_001271208.2(NEB):c.12529A>T (p.Ser4177Cys)
|
rs1553877493 |
NM_001271208.2(NEB):c.12534+3A>G
|
|
NM_001271208.2(NEB):c.12550G>A (p.Ala4184Thr)
|
rs1553877049 |
NM_001271208.2(NEB):c.12596C>T (p.Pro4199Leu)
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rs1365594299 |
NM_001271208.2(NEB):c.125A>G (p.Tyr42Cys)
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NM_001271208.2(NEB):c.12601A>T (p.Met4201Leu)
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rs1553876833 |
NM_001271208.2(NEB):c.12662A>G (p.Asn4221Ser)
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rs1553875590 |
NM_001271208.2(NEB):c.1267A>G (p.Lys423Glu)
|
|
NM_001271208.2(NEB):c.12686A>G (p.Asp4229Gly)
|
rs1553875409 |
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val)
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rs532986882 |
NM_001271208.2(NEB):c.12747+4C>T
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|
NM_001271208.2(NEB):c.12747+5G>A
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rs1251007091 |
NM_001271208.2(NEB):c.12769C>T (p.Arg4257Cys)
|
rs1376744526 |
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His)
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rs576918934 |
NM_001271208.2(NEB):c.12790A>G (p.Met4264Val)
|
rs1363996930 |
NM_001271208.2(NEB):c.127G>C (p.Glu43Gln)
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rs1578040162 |
NM_001271208.2(NEB):c.12800G>A (p.Arg4267His)
|
rs1049044616 |
NM_001271208.2(NEB):c.12808C>A (p.Gln4270Lys)
|
rs1057524648 |
NM_001271208.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684 |
NM_001271208.2(NEB):c.128A>C (p.Glu43Ala)
|
|
NM_001271208.2(NEB):c.12902A>T (p.His4301Leu)
|
rs1553872062 |
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile)
|
rs886038429 |
NM_001271208.2(NEB):c.12911C>T (p.Pro4304Leu)
|
rs1456001729 |
NM_001271208.2(NEB):c.12922A>G (p.Met4308Val)
|
rs1553871982 |
NM_001271208.2(NEB):c.12976C>T (p.Arg4326Cys)
|
rs1270122330 |
NM_001271208.2(NEB):c.12977G>A (p.Arg4326His)
|
rs1429486273 |
NM_001271208.2(NEB):c.13018G>A (p.Asp4340Asn)
|
rs1462818722 |
NM_001271208.2(NEB):c.13052A>G (p.Gln4351Arg)
|
rs1553871396 |
NM_001271208.2(NEB):c.13056C>A (p.Ser4352Arg)
|
rs1468240932 |
NM_001271208.2(NEB):c.13059+4C>T
|
rs1253831275 |
NM_001271208.2(NEB):c.13078C>G (p.Leu4360Val)
|
rs761799512 |
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360 |
NM_001271208.2(NEB):c.1310G>A (p.Ser437Asn)
|
rs1466400136 |
NM_001271208.2(NEB):c.1312T>G (p.Phe438Val)
|
|
NM_001271208.2(NEB):c.13132A>G (p.Arg4378Gly)
|
rs1189557869 |
NM_001271208.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938 |
NM_001271208.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023 |
NM_001271208.2(NEB):c.13263+8C>T
|
rs1553866957 |
NM_001271208.2(NEB):c.1333C>T (p.His445Tyr)
|
|
NM_001271208.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser)
|
rs1553865895 |
NM_001271208.2(NEB):c.13368+6A>G
|
rs886038433 |
NM_001271208.2(NEB):c.13369-14CT[2]
|
rs1553865749 |
NM_001271208.2(NEB):c.13370A>C (p.Lys4457Thr)
|
rs1057521174 |
NM_001271208.2(NEB):c.13406C>T (p.Thr4469Ile)
|
rs1192545815 |
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr)
|
rs886038434 |
NM_001271208.2(NEB):c.13460G>T (p.Arg4487Met)
|
rs1553865625 |
NM_001271208.2(NEB):c.13465A>C (p.Ile4489Leu)
|
rs1553865611 |
NM_001271208.2(NEB):c.13466T>C (p.Ile4489Thr)
|
rs1433188091 |
NM_001271208.2(NEB):c.13475_13476delinsTT (p.Asp4492Val)
|
rs1553865579 |
NM_001271208.2(NEB):c.13520T>C (p.Ile4507Thr)
|
rs1553862732 |
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435 |
NM_001271208.2(NEB):c.1365+5G>T
|
rs1553607969 |
NM_001271208.2(NEB):c.13651G>A (p.Val4551Met)
|
rs1553862399 |
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021 |
NM_001271208.2(NEB):c.13706G>A (p.Arg4569His)
|
rs1216367965 |
NM_001271208.2(NEB):c.13717C>T (p.His4573Tyr)
|
rs1553862206 |
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val)
|
rs886038440 |
NM_001271208.2(NEB):c.13754T>C (p.Ile4585Thr)
|
rs1553862132 |
NM_001271208.2(NEB):c.1423A>G (p.Ile475Val)
|
|
NM_001271208.2(NEB):c.1470C>T (p.Asp490=)
|
rs778189876 |
NM_001271208.2(NEB):c.1478A>G (p.Tyr493Cys)
|
rs1576674181 |
NM_001271208.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452 |
NM_001271208.2(NEB):c.1504T>C (p.Phe502Leu)
|
rs759653954 |
NM_001271208.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348 |
NM_001271208.2(NEB):c.1535T>A (p.Leu512Gln)
|
|
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1])
|
rs757726895 |
NM_001271208.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125 |
NM_001271208.2(NEB):c.1569+3A>T
|
rs1576671314 |
NM_001271208.2(NEB):c.1569C>T (p.Asp523=)
|
rs200758495 |
NM_001271208.2(NEB):c.1610G>A (p.Cys537Tyr)
|
rs935982815 |
NM_001271208.2(NEB):c.1618C>G (p.Pro540Ala)
|
rs1271816542 |
NM_001271208.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943 |
NM_001271208.2(NEB):c.1648A>G (p.Lys550Glu)
|
rs756920047 |
NM_001271208.2(NEB):c.1654A>G (p.Asn552Asp)
|
|
NM_001271208.2(NEB):c.1674+3A>C
|
|
NM_001271208.2(NEB):c.16789G>A (p.Ala5597Thr)
|
|
NM_001271208.2(NEB):c.16790C>G (p.Ala5597Gly)
|
rs777969701 |
NM_001271208.2(NEB):c.16814T>C (p.Val5605Ala)
|
|
NM_001271208.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328 |
NM_001271208.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733 |
NM_001271208.2(NEB):c.16828G>T (p.Val5610Leu)
|
|
NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744 |
NM_001271208.2(NEB):c.16954A>T (p.Ile5652Leu)
|
rs767425744 |
NM_001271208.2(NEB):c.16958T>C (p.Met5653Thr)
|
rs763012000 |
NM_001271208.2(NEB):c.16967C>T (p.Thr5656Ile)
|
rs1353681047 |
NM_001271208.2(NEB):c.16984G>A (p.Ala5662Thr)
|
|
NM_001271208.2(NEB):c.17013+3A>G
|
|
NM_001271208.2(NEB):c.17023C>G (p.Arg5675Gly)
|
rs547231033 |
NM_001271208.2(NEB):c.17023C>T (p.Arg5675Cys)
|
|
NM_001271208.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162 |
NM_001271208.2(NEB):c.17078C>T (p.Pro5693Leu)
|
|
NM_001271208.2(NEB):c.17114G>A (p.Ser5705Asn)
|
rs1179251845 |
NM_001271208.2(NEB):c.17118C>A (p.Asp5706Glu)
|
|
NM_001271208.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760 |
NM_001271208.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968 |
NM_001271208.2(NEB):c.17156A>T (p.His5719Leu)
|
rs776095941 |
NM_001271208.2(NEB):c.17183A>G (p.Asp5728Gly)
|
|
NM_001271208.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317 |
NM_001271208.2(NEB):c.17185G>A (p.Asp5729Asn)
|
|
NM_001271208.2(NEB):c.1718T>C (p.Phe573Ser)
|
|
NM_001271208.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892 |
NM_001271208.2(NEB):c.17198G>T (p.Arg5733Leu)
|
rs371681892 |
NM_001271208.2(NEB):c.17200T>C (p.Trp5734Arg)
|
rs369065324 |
NM_001271208.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641 |
NM_001271208.2(NEB):c.17215G>A (p.Asp5739Asn)
|
rs200672818 |
NM_001271208.2(NEB):c.17234G>A (p.Arg5745Gln)
|
rs773556106 |
NM_001271208.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744 |
NM_001271208.2(NEB):c.17243G>A (p.Arg5748Gln)
|
|
NM_001271208.2(NEB):c.17297C>T (p.Ser5766Phe)
|
|
NM_001271208.2(NEB):c.1729G>A (p.Val577Met)
|
rs1419317928 |
NM_001271208.2(NEB):c.17341G>C (p.Asp5781His)
|
rs897368602 |
NM_001271208.2(NEB):c.17347C>T (p.Arg5783Cys)
|
rs1037281077 |
NM_001271208.2(NEB):c.1735G>T (p.Ala579Ser)
|
rs758068422 |
NM_001271208.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
|
rs765184893 |
NM_001271208.2(NEB):c.17380G>A (p.Asp5794Asn)
|
|
NM_001271208.2(NEB):c.17389G>A (p.Asp5797Asn)
|
|
NM_001271208.2(NEB):c.17396T>C (p.Ile5799Thr)
|
rs1262861131 |
NM_001271208.2(NEB):c.17401G>A (p.Ala5801Thr)
|
rs1204919597 |
NM_001271208.2(NEB):c.17404_17406AAG[1] (p.Lys5803del)
|
rs1553787578 |
NM_001271208.2(NEB):c.17416G>A (p.Glu5806Lys)
|
rs748311158 |
NM_001271208.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926 |
NM_001271208.2(NEB):c.17479C>T (p.Pro5827Ser)
|
rs1560050173 |
NM_001271208.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965 |
NM_001271208.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385 |
NM_001271208.2(NEB):c.17519C>T (p.Ala5840Val)
|
rs539856643 |
NM_001271208.2(NEB):c.17520G>A (p.Ala5840=)
|
rs372786852 |
NM_001271208.2(NEB):c.17535+3A>G
|
rs1553784210 |
NM_001271208.2(NEB):c.17543A>G (p.Tyr5848Cys)
|
rs1577949283 |
NM_001271208.2(NEB):c.1754C>T (p.Ala585Val)
|
|
NM_001271208.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601 |
NM_001271208.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298 |
NM_001271208.2(NEB):c.17627T>C (p.Leu5876Pro)
|
rs1181510782 |
NM_001271208.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996 |
NM_001271208.2(NEB):c.17677A>G (p.Thr5893Ala)
|
rs762095177 |
NM_001271208.2(NEB):c.17681T>A (p.Leu5894His)
|
|
NM_001271208.2(NEB):c.1782+4_1782+5del
|
rs398124168 |
NM_001271208.2(NEB):c.17865T>G (p.His5955Gln)
|
rs1394078245 |
NM_001271208.2(NEB):c.17896C>G (p.Pro5966Ala)
|
|
NM_001271208.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089 |
NM_001271208.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918 |
NM_001271208.2(NEB):c.17915C>A (p.Pro5972His)
|
|
NM_001271208.2(NEB):c.17919G>C (p.Lys5973Asn)
|
rs752928207 |
NM_001271208.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726 |
NM_001271208.2(NEB):c.17965T>A (p.Tyr5989Asn)
|
rs752113075 |
NM_001271208.2(NEB):c.17980C>G (p.His5994Asp)
|
|
NM_001271208.2(NEB):c.18008C>G (p.Pro6003Arg)
|
|
NM_001271208.2(NEB):c.18037A>C (p.Lys6013Gln)
|
|
NM_001271208.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350 |
NM_001271208.2(NEB):c.18096G>A (p.Met6032Ile)
|
|
NM_001271208.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154 |
NM_001271208.2(NEB):c.18122T>C (p.Ile6041Thr)
|
|
NM_001271208.2(NEB):c.18127G>A (p.Ala6043Thr)
|
rs1553775860 |
NM_001271208.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007 |
NM_001271208.2(NEB):c.18152G>A (p.Ser6051Asn)
|
rs1577885822 |
NM_001271208.2(NEB):c.18255G>A (p.Met6085Ile)
|
|
NM_001271208.2(NEB):c.18261+4C>G
|
|
NM_001271208.2(NEB):c.18261+5G>A
|
|
NM_001271208.2(NEB):c.1826T>C (p.Ile609Thr)
|
rs748239538 |
NM_001271208.2(NEB):c.18278A>T (p.Asn6093Ile)
|
|
NM_001271208.2(NEB):c.1828G>A (p.Gly610Arg)
|
rs1166853973 |
NM_001271208.2(NEB):c.18295C>T (p.Pro6099Ser)
|
|
NM_001271208.2(NEB):c.1829G>A (p.Gly610Glu)
|
rs139125293 |
NM_001271208.2(NEB):c.18310G>C (p.Val6104Leu)
|
|
NM_001271208.2(NEB):c.18314T>C (p.Val6105Ala)
|
|
NM_001271208.2(NEB):c.18327G>T (p.Glu6109Asp)
|
|
NM_001271208.2(NEB):c.18330T>G (p.Ile6110Met)
|
|
NM_001271208.2(NEB):c.18374A>G (p.Tyr6125Cys)
|
|
NM_001271208.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449 |
NM_001271208.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204 |
NM_001271208.2(NEB):c.18439C>T (p.His6147Tyr)
|
rs1577779523 |
NM_001271208.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683 |
NM_001271208.2(NEB):c.18496G>A (p.Gly6166Ser)
|
rs1239862833 |
NM_001271208.2(NEB):c.18542T>C (p.Ile6181Thr)
|
rs764500250 |
NM_001271208.2(NEB):c.18596C>T (p.Thr6199Ile)
|
rs1331648772 |
NM_001271208.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102 |
NM_001271208.2(NEB):c.18656T>G (p.Val6219Gly)
|
|
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016 |
NM_001271208.2(NEB):c.18694-3T>C
|
rs370200484 |
NM_001271208.2(NEB):c.18694-6_18694-2del
|
rs1377029367 |
NM_001271208.2(NEB):c.18709C>G (p.His6237Asp)
|
|
NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe)
|
rs775430225 |
NM_001271208.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265 |
NM_001271208.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566 |
NM_001271208.2(NEB):c.18763G>A (p.Val6255Met)
|
|
NM_001271208.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439 |
NM_001271208.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870 |
NM_001271208.2(NEB):c.1883A>C (p.Lys628Thr)
|
rs1176664285 |
NM_001271208.2(NEB):c.1883A>G (p.Lys628Arg)
|
|
NM_001271208.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967 |
NM_001271208.2(NEB):c.18860G>A (p.Arg6287His)
|
|
NM_001271208.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728 |
NM_001271208.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060 |
NM_001271208.2(NEB):c.18893A>G (p.Asn6298Ser)
|
|
NM_001271208.2(NEB):c.18918G>T (p.Trp6306Cys)
|
rs1559952676 |
NM_001271208.2(NEB):c.18948T>A (p.Asp6316Glu)
|
|
NM_001271208.2(NEB):c.1896T>A (p.Asp632Glu)
|
rs978952705 |
NM_001271208.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701 |
NM_001271208.2(NEB):c.19097G>A (p.Ser6366Asn)
|
|
NM_001271208.2(NEB):c.19121A>G (p.Tyr6374Cys)
|
|
NM_001271208.2(NEB):c.19139A>G (p.Lys6380Arg)
|
|
NM_001271208.2(NEB):c.19157A>G (p.Glu6386Gly)
|
rs200056050 |
NM_001271208.2(NEB):c.1916A>G (p.Tyr639Cys)
|
rs1559315113 |
NM_001271208.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939 |
NM_001271208.2(NEB):c.19301A>C (p.His6434Pro)
|
rs1577553776 |
NM_001271208.2(NEB):c.19313A>G (p.His6438Arg)
|
|
NM_001271208.2(NEB):c.19315-3T>C
|
|
NM_001271208.2(NEB):c.19324C>T (p.Arg6442Trp)
|
rs746394316 |
NM_001271208.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306 |
NM_001271208.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654 |
NM_001271208.2(NEB):c.19378G>A (p.Asp6460Asn)
|
|
NM_001271208.2(NEB):c.19400G>C (p.Cys6467Ser)
|
rs1577306997 |
NM_001271208.2(NEB):c.19406G>C (p.Arg6469Pro)
|
|
NM_001271208.2(NEB):c.19426G>A (p.Asp6476Asn)
|
|
NM_001271208.2(NEB):c.19428+8C>A
|
rs773614835 |
NM_001271208.2(NEB):c.19429C>T (p.Arg6477Cys)
|
|
NM_001271208.2(NEB):c.1942A>T (p.Asn648Tyr)
|
rs1553592578 |
NM_001271208.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326 |
NM_001271208.2(NEB):c.19486A>G (p.Met6496Val)
|
rs1354087086 |
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006 |
NM_001271208.2(NEB):c.1952A>T (p.Glu651Val)
|
rs1553592436 |
NM_001271208.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585 |
NM_001271208.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862 |
NM_001271208.2(NEB):c.1954A>G (p.Thr652Ala)
|
|
NM_001271208.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923 |
NM_001271208.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126 |
NM_001271208.2(NEB):c.19628T>C (p.Ile6543Thr)
|
|
NM_001271208.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206 |
NM_001271208.2(NEB):c.19724G>A (p.Arg6575His)
|
|
NM_001271208.2(NEB):c.19724G>T (p.Arg6575Leu)
|
rs185999504 |
NM_001271208.2(NEB):c.19732-5G>A
|
|
NM_001271208.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055 |
NM_001271208.2(NEB):c.19814A>G (p.Lys6605Arg)
|
|
NM_001271208.2(NEB):c.19826A>T (p.Gln6609Leu)
|
rs1553730155 |
NM_001271208.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689 |
NM_001271208.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709 |
NM_001271208.2(NEB):c.19903G>A (p.Asp6635Asn)
|
|
NM_001271208.2(NEB):c.19912C>T (p.Arg6638Trp)
|
|
NM_001271208.2(NEB):c.19913G>A (p.Arg6638Gln)
|
|
NM_001271208.2(NEB):c.19915G>A (p.Ala6639Thr)
|
|
NM_001271208.2(NEB):c.19918C>T (p.Leu6640Phe)
|
|
NM_001271208.2(NEB):c.19939A>G (p.Ser6647Gly)
|
rs1559830688 |
NM_001271208.2(NEB):c.19944+7A>G
|
rs201751179 |
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558 |
NM_001271208.2(NEB):c.19967G>A (p.Arg6656His)
|
|
NM_001271208.2(NEB):c.19978A>G (p.Thr6660Ala)
|
|
NM_001271208.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044 |
NM_001271208.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804 |
NM_001271208.2(NEB):c.1999G>A (p.Ala667Thr)
|
rs750186349 |
NM_001271208.2(NEB):c.20021_20023del (p.Ile6674del)
|
rs1577105410 |
NM_001271208.2(NEB):c.20038A>G (p.Met6680Val)
|
|
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330 |
NM_001271208.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089 |
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215 |
NM_001271208.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629 |
NM_001271208.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514 |
NM_001271208.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284 |
NM_001271208.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732 |
NM_001271208.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356 |
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423 |
NM_001271208.2(NEB):c.20315C>T (p.Pro6772Leu)
|
rs1559782362 |
NM_001271208.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626 |
NM_001271208.2(NEB):c.20359A>G (p.Thr6787Ala)
|
|
NM_001271208.2(NEB):c.20360C>T (p.Thr6787Ile)
|
|
NM_001271208.2(NEB):c.20371A>G (p.Lys6791Glu)
|
rs758370711 |
NM_001271208.2(NEB):c.20434A>G (p.Met6812Val)
|
|
NM_001271208.2(NEB):c.20437G>A (p.Val6813Ile)
|
rs951646007 |
NM_001271208.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782 |
NM_001271208.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363 |
NM_001271208.2(NEB):c.20466+5G>C
|
|
NM_001271208.2(NEB):c.20504G>A (p.Arg6835Gln)
|
|
NM_001271208.2(NEB):c.20577+6G>A
|
rs775513148 |
NM_001271208.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279 |
NM_001271208.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279 |
NM_001271208.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668 |
NM_001271208.2(NEB):c.20721T>A (p.His6907Gln)
|
|
NM_001271208.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377 |
NM_001271208.2(NEB):c.20765A>T (p.Asp6922Val)
|
|
NM_001271208.2(NEB):c.20776A>G (p.Met6926Val)
|
rs1559707924 |
NM_001271208.2(NEB):c.20834C>T (p.Pro6945Leu)
|
|
NM_001271208.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697 |
NM_001271208.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683 |
NM_001271208.2(NEB):c.20933A>G (p.Tyr6978Cys)
|
rs761780939 |
NM_001271208.2(NEB):c.20941G>A (p.Val6981Met)
|
rs374961597 |
NM_001271208.2(NEB):c.20945A>T (p.Lys6982Ile)
|
rs776012642 |
NM_001271208.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422 |
NM_001271208.2(NEB):c.20968C>T (p.His6990Tyr)
|
|
NM_001271208.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561 |
NM_001271208.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258 |
NM_001271208.2(NEB):c.21056G>A (p.Arg7019His)
|
|
NM_001271208.2(NEB):c.21102T>C (p.Asp7034=)
|
rs531711771 |
NM_001271208.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
|
NM_001271208.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155 |
NM_001271208.2(NEB):c.21196C>A (p.Leu7066Ile)
|
rs1428589113 |
NM_001271208.2(NEB):c.21212A>G (p.Lys7071Arg)
|
|
NM_001271208.2(NEB):c.2122G>A (p.Glu708Lys)
|
rs1553587676 |
NM_001271208.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528 |
NM_001271208.2(NEB):c.21312+5G>A
|
rs778363526 |
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151 |
NM_001271208.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984 |
NM_001271208.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767 |
NM_001271208.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793 |
NM_001271208.2(NEB):c.21359T>C (p.Leu7120Pro)
|
|
NM_001271208.2(NEB):c.21392A>T (p.Lys7131Met)
|
|
NM_001271208.2(NEB):c.21397G>T (p.Ala7133Ser)
|
rs988993094 |
NM_001271208.2(NEB):c.21402C>T (p.Gly7134=)
|
|
NM_001271208.2(NEB):c.21437C>G (p.Ala7146Gly)
|
|
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val)
|
rs750039342 |
NM_001271208.2(NEB):c.214A>G (p.Ile72Val)
|
rs1553698165 |
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu)
|
rs886038447 |
NM_001271208.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299 |
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu)
|
rs1576490497 |
NM_001271208.2(NEB):c.21595C>A (p.Arg7199Ser)
|
|
NM_001271208.2(NEB):c.21596G>C (p.Arg7199Pro)
|
|
NM_001271208.2(NEB):c.2162C>T (p.Thr721Ile)
|
|
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
|
|
NM_001271208.2(NEB):c.21709C>T (p.Arg7237Cys)
|
|
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr)
|
rs191722579 |
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val)
|
rs368315910 |
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys)
|
rs745791097 |
NM_001271208.2(NEB):c.21866C>A (p.Ala7289Asp)
|
|
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu)
|
rs367626762 |
NM_001271208.2(NEB):c.21946-6T>A
|
rs767466501 |
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly)
|
rs376072545 |
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly)
|
rs747282707 |
NM_001271208.2(NEB):c.21980G>A (p.Gly7327Asp)
|
|
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr)
|
rs1289511955 |
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln)
|
rs756646859 |
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile)
|
rs189609282 |
NM_001271208.2(NEB):c.22109C>T (p.Thr7370Met)
|
rs767584361 |
NM_001271208.2(NEB):c.22112C>T (p.Pro7371Leu)
|
rs1559547106 |
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met)
|
rs200918570 |
NM_001271208.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175 |
NM_001271208.2(NEB):c.22196G>A (p.Gly7399Asp)
|
|
NM_001271208.2(NEB):c.22219A>C (p.Thr7407Pro)
|
|
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile)
|
rs1195608964 |
NM_001271208.2(NEB):c.22236C>G (p.His7412Gln)
|
|
NM_001271208.2(NEB):c.22237G>A (p.Val7413Ile)
|
|
NM_001271208.2(NEB):c.22278A>T (p.Lys7426Asn)
|
|
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile)
|
rs1396168176 |
NM_001271208.2(NEB):c.22292A>G (p.Lys7431Arg)
|
rs201548700 |
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp)
|
rs1576243073 |
NM_001271208.2(NEB):c.2234A>G (p.Asp745Gly)
|
|
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys)
|
rs369642754 |
NM_001271208.2(NEB):c.22378G>T (p.Val7460Phe)
|
|
NM_001271208.2(NEB):c.22433G>C (p.Arg7478Pro)
|
|
NM_001271208.2(NEB):c.22454C>T (p.Thr7485Ile)
|
|
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr)
|
rs142454476 |
NM_001271208.2(NEB):c.22479+6G>A
|
rs749050869 |
NM_001271208.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325 |
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg)
|
rs1553641474 |
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys)
|
rs202050860 |
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His)
|
rs767207985 |
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val)
|
rs374581669 |
NM_001271208.2(NEB):c.22609A>G (p.Lys7537Glu)
|
|
NM_001271208.2(NEB):c.22640C>T (p.Pro7547Leu)
|
|
NM_001271208.2(NEB):c.22660A>G (p.Lys7554Glu)
|
|
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu)
|
rs201976154 |
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr)
|
rs746454129 |
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
|
|
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly)
|
rs749222946 |
NM_001271208.2(NEB):c.22855G>A (p.Asp7619Asn)
|
|
NM_001271208.2(NEB):c.22879A>C (p.Lys7627Gln)
|
|
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly)
|
rs776739582 |
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr)
|
rs373852098 |
NM_001271208.2(NEB):c.23122-3T>C
|
rs111314898 |
NM_001271208.2(NEB):c.23155C>T (p.Arg7719Cys)
|
|
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
|
|
NM_001271208.2(NEB):c.23159G>A (p.Gly7720Glu)
|
|
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln)
|
rs766321668 |
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys)
|
rs947053462 |
NM_001271208.2(NEB):c.23294A>G (p.Asn7765Ser)
|
|
NM_001271208.2(NEB):c.23303C>T (p.Pro7768Leu)
|
|
NM_001271208.2(NEB):c.23338G>T (p.Ala7780Ser)
|
|
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp)
|
rs201189784 |
NM_001271208.2(NEB):c.23420A>G (p.His7807Arg)
|
|
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del)
|
rs1553614214 |
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr)
|
rs1553614160 |
NM_001271208.2(NEB):c.23446A>G (p.Ser7816Gly)
|
|
NM_001271208.2(NEB):c.23451+5G>A
|
|
NM_001271208.2(NEB):c.23455A>G (p.Lys7819Glu)
|
|
NM_001271208.2(NEB):c.23464G>A (p.Glu7822Lys)
|
|
NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu)
|
rs199957886 |
NM_001271208.2(NEB):c.23483T>C (p.Met7828Thr)
|
rs536677256 |
NM_001271208.2(NEB):c.23510C>A (p.Thr7837Asn)
|
|
NM_001271208.2(NEB):c.23521C>G (p.Gln7841Glu)
|
|
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp)
|
rs762220487 |
NM_001271208.2(NEB):c.2353C>A (p.His785Asn)
|
|
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met)
|
rs370108917 |
NM_001271208.2(NEB):c.23630G>A (p.Arg7877His)
|
|
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu)
|
rs200454939 |
NM_001271208.2(NEB):c.23662-3C>G
|
rs374499643 |
NM_001271208.2(NEB):c.2366A>G (p.Asp789Gly)
|
rs201498216 |
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg)
|
rs1480807112 |
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val)
|
rs1454960791 |
NM_001271208.2(NEB):c.23742C>G (p.Asp7914Glu)
|
|
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu)
|
rs202191938 |
NM_001271208.2(NEB):c.23815C>T (p.Arg7939Cys)
|
|
NM_001271208.2(NEB):c.23859_23864dup (p.Lys7953_Glu7954dup)
|
|
NM_001271208.2(NEB):c.23870G>C (p.Gly7957Ala)
|
|
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser)
|
rs369602540 |
NM_001271208.2(NEB):c.23878A>G (p.Ile7960Val)
|
|
NM_001271208.2(NEB):c.23894C>A (p.Thr7965Asn)
|
|
NM_001271208.2(NEB):c.23908A>G (p.Arg7970Gly)
|
|
NM_001271208.2(NEB):c.23917C>T (p.Arg7973Cys)
|
|
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp)
|
rs200559481 |
NM_001271208.2(NEB):c.23998G>C (p.Glu8000Gln)
|
|
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys)
|
rs201419564 |
NM_001271208.2(NEB):c.24031T>A (p.Ser8011Thr)
|
|
NM_001271208.2(NEB):c.24033+4T>C
|
rs768465696 |
NM_001271208.2(NEB):c.24062G>C (p.Gly8021Ala)
|
|
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys)
|
rs1202510810 |
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu)
|
rs763365852 |
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala)
|
rs200269437 |
NM_001271208.2(NEB):c.24149G>A (p.Gly8050Glu)
|
|
NM_001271208.2(NEB):c.2415+6T>C
|
rs760614044 |
NM_001271208.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836 |
NM_001271208.2(NEB):c.24187A>G (p.Arg8063Gly)
|
|
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser)
|
rs946188918 |
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)
|
rs770023115 |
NM_001271208.2(NEB):c.24219G>T (p.Ser8073=)
|
|
NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)
|
|
NM_001271208.2(NEB):c.24263T>C (p.Ile8088Thr)
|
|
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile)
|
rs758996758 |
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=)
|
rs763193315 |
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup)
|
rs781667543 |
NM_001271208.2(NEB):c.2432A>T (p.Asp811Val)
|
|
NM_001271208.2(NEB):c.2437G>A (p.Glu813Lys)
|
rs752442261 |
NM_001271208.2(NEB):c.24380A>G (p.Lys8127Arg)
|
|
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr)
|
rs372228043 |
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup)
|
rs780724946 |
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu)
|
rs759261311 |
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=)
|
rs541126160 |
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup)
|
rs1344099907 |
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe)
|
rs1217235799 |
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu)
|
rs541150975 |
NM_001271208.2(NEB):c.24463G>A (p.Glu8155Lys)
|
|
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp)
|
rs960735572 |
NM_001271208.2(NEB):c.24498G>A (p.Ser8166=)
|
|
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
|
|
NM_001271208.2(NEB):c.24590C>T (p.Ser8197Leu)
|
|
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg)
|
rs1553537770 |
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu)
|
rs398124169 |
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr)
|
rs199937246 |
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His)
|
rs759962661 |
NM_001271208.2(NEB):c.24741G>A (p.Met8247Ile)
|
|
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His)
|
rs201291446 |
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu)
|
rs746031384 |
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu)
|
rs571935637 |
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile)
|
rs369083039 |
NM_001271208.2(NEB):c.24834G>A (p.Met8278Ile)
|
|
NM_001271208.2(NEB):c.24838A>G (p.Arg8280Gly)
|
|
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys)
|
rs748561855 |
NM_001271208.2(NEB):c.2485C>G (p.Leu829Val)
|
|
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val)
|
rs749977606 |
NM_001271208.2(NEB):c.24946C>T (p.Arg8316Trp)
|
|
NM_001271208.2(NEB):c.24947G>A (p.Arg8316Gln)
|
|
NM_001271208.2(NEB):c.24964C>T (p.Arg8322Trp)
|
|
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=)
|
rs779321695 |
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp)
|
rs202145313 |
NM_001271208.2(NEB):c.25012G>C (p.Gly8338Arg)
|
|
NM_001271208.2(NEB):c.25054G>A (p.Val8352Ile)
|
|
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala)
|
rs1574651626 |
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
|
|
NM_001271208.2(NEB):c.2515A>G (p.Thr839Ala)
|
|
NM_001271208.2(NEB):c.25160C>T (p.Thr8387Ile)
|
|
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His)
|
rs778972474 |
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His)
|
rs796797375 |
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=)
|
rs766453942 |
NM_001271208.2(NEB):c.25210C>G (p.Pro8404Ala)
|
|
NM_001271208.2(NEB):c.2523+6T>C
|
|
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln)
|
rs369174368 |
NM_001271208.2(NEB):c.25255+3G>A
|
|
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys)
|
rs371600800 |
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His)
|
rs139333406 |
NM_001271208.2(NEB):c.25270C>T (p.Arg8424Trp)
|
rs373551215 |
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln)
|
rs749034995 |
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln)
|
rs779983347 |
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
|
|
NM_001271208.2(NEB):c.25313G>A (p.Ser8438Asn)
|
|
NM_001271208.2(NEB):c.2533A>G (p.Lys845Glu)
|
rs772154599 |
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro)
|
rs370819880 |
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183 |
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His)
|
rs377748897 |
NM_001271208.2(NEB):c.25520G>A (p.Arg8507His)
|
|
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter)
|
rs1242654062 |
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg)
|
rs201714437 |
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn)
|
rs1574251962 |
NM_001271208.2(NEB):c.25639G>A (p.Gly8547Ser)
|
|
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr)
|
rs775823432 |
NM_001271208.2(NEB):c.2569G>A (p.Gly857Arg)
|
rs1559253666 |
NM_001271208.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127 |
NM_001271208.2(NEB):c.2579G>A (p.Ser860Asn)
|
rs1368018193 |
NM_001271208.2(NEB):c.2593C>T (p.Pro865Ser)
|
|
NM_001271208.2(NEB):c.2630A>G (p.Gln877Arg)
|
rs373892420 |
NM_001271208.2(NEB):c.2630A>T (p.Gln877Leu)
|
rs373892420 |
NM_001271208.2(NEB):c.2638C>T (p.Arg880Cys)
|
|
NM_001271208.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890 |
NM_001271208.2(NEB):c.2648G>A (p.Arg883Gln)
|
|
NM_001271208.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257 |
NM_001271208.2(NEB):c.2762T>C (p.Leu921Ser)
|
|
NM_001271208.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114 |
NM_001271208.2(NEB):c.2833G>T (p.Asp945Tyr)
|
|
NM_001271208.2(NEB):c.2909A>T (p.Glu970Val)
|
|
NM_001271208.2(NEB):c.2923G>A (p.Ala975Thr)
|
rs917645712 |
NM_001271208.2(NEB):c.2943+3dup
|
|
NM_001271208.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170 |
NM_001271208.2(NEB):c.2968A>G (p.Thr990Ala)
|
|
NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207 |
NM_001271208.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385 |
NM_001271208.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462 |
NM_001271208.2(NEB):c.3022A>G (p.Asn1008Asp)
|
rs1576128802 |
NM_001271208.2(NEB):c.3042+3_3042+6del
|
|
NM_001271208.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299 |
NM_001271208.2(NEB):c.3131C>G (p.Ala1044Gly)
|
|
NM_001271208.2(NEB):c.3154T>C (p.Tyr1052His)
|
rs1553539456 |
NM_001271208.2(NEB):c.3155A>G (p.Tyr1052Cys)
|
rs758214665 |
NM_001271208.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880 |
NM_001271208.2(NEB):c.3235G>T (p.Ala1079Ser)
|
rs1576082029 |
NM_001271208.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792 |
NM_001271208.2(NEB):c.3255+2dup
|
rs1276026682 |
NM_001271208.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295 |
NM_001271208.2(NEB):c.3349G>A (p.Val1117Met)
|
|
NM_001271208.2(NEB):c.3362A>G (p.Gln1121Arg)
|
rs1559152642 |
NM_001271208.2(NEB):c.3373G>C (p.Glu1125Gln)
|
rs757784515 |
NM_001271208.2(NEB):c.3397A>G (p.Thr1133Ala)
|
rs1294520829 |
NM_001271208.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403 |
NM_001271208.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402 |
NM_001271208.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868 |
NM_001271208.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566 |
NM_001271208.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566 |
NM_001271208.2(NEB):c.3445G>T (p.Ala1149Ser)
|
|
NM_001271208.2(NEB):c.3491C>A (p.Ser1164Tyr)
|
rs944276562 |
NM_001271208.2(NEB):c.3520G>A (p.Ala1174Thr)
|
rs756135837 |
NM_001271208.2(NEB):c.3547A>G (p.Met1183Val)
|
|
NM_001271208.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224 |
NM_001271208.2(NEB):c.3567T>A (p.Asp1189Glu)
|
|
NM_001271208.2(NEB):c.3571G>A (p.Val1191Ile)
|
|
NM_001271208.2(NEB):c.3634G>A (p.Asp1212Asn)
|
|
NM_001271208.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287 |
NM_001271208.2(NEB):c.3640G>A (p.Glu1214Lys)
|
|
NM_001271208.2(NEB):c.3658G>A (p.Gly1220Ser)
|
|
NM_001271208.2(NEB):c.3677A>G (p.Lys1226Arg)
|
|
NM_001271208.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425 |
NM_001271208.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852 |
NM_001271208.2(NEB):c.3713C>T (p.Thr1238Ile)
|
|
NM_001271208.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240 |
NM_001271208.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519 |
NM_001271208.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330 |
NM_001271208.2(NEB):c.3774+4A>C
|
|
NM_001271208.2(NEB):c.3776T>C (p.Ile1259Thr)
|
rs1553522143 |
NM_001271208.2(NEB):c.3788C>A (p.Ala1263Asp)
|
rs1575886894 |
NM_001271208.2(NEB):c.394C>T (p.Leu132Phe)
|
|
NM_001271208.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641 |
NM_001271208.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826 |
NM_001271208.2(NEB):c.3987T>C (p.Asp1329=)
|
|
NM_001271208.2(NEB):c.402+4G>A
|
|
NM_001271208.2(NEB):c.403G>A (p.Val135Ile)
|
rs373729655 |
NM_001271208.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452 |
NM_001271208.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572 |
NM_001271208.2(NEB):c.4105G>A (p.Glu1369Lys)
|
rs779213215 |
NM_001271208.2(NEB):c.4109A>G (p.Tyr1370Cys)
|
rs1230970164 |
NM_001271208.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217 |
NM_001271208.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578 |
NM_001271208.2(NEB):c.4151C>G (p.Pro1384Arg)
|
|
NM_001271208.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949 |
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390 |
NM_001271208.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531 |
NM_001271208.2(NEB):c.422G>A (p.Gly141Asp)
|
rs973669056 |
NM_001271208.2(NEB):c.422G>T (p.Gly141Val)
|
rs973669056 |
NM_001271208.2(NEB):c.4244T>A (p.Leu1415Gln)
|
|
NM_001271208.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080 |
NM_001271208.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084 |
NM_001271208.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120 |
NM_001271208.2(NEB):c.4315G>A (p.Glu1439Lys)
|
|
NM_001271208.2(NEB):c.4343G>C (p.Gly1448Ala)
|
|
NM_001271208.2(NEB):c.4372G>A (p.Glu1458Lys)
|
rs1559073472 |
NM_001271208.2(NEB):c.4392C>T (p.Gly1464=)
|
|
NM_001271208.2(NEB):c.43A>G (p.Thr15Ala)
|
|
NM_001271208.2(NEB):c.441A>G (p.Ile147Met)
|
|
NM_001271208.2(NEB):c.4432A>G (p.Thr1478Ala)
|
|
NM_001271208.2(NEB):c.4469T>C (p.Met1490Thr)
|
rs554984749 |
NM_001271208.2(NEB):c.4481A>G (p.Gln1494Arg)
|
rs769642582 |
NM_001271208.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418 |
NM_001271208.2(NEB):c.4507-3T>C
|
rs747017871 |
NM_001271208.2(NEB):c.4555G>A (p.Asp1519Asn)
|
rs781655186 |
NM_001271208.2(NEB):c.4595C>A (p.Ala1532Asp)
|
rs1456966310 |
NM_001271208.2(NEB):c.4612G>C (p.Ala1538Pro)
|
rs781263453 |
NM_001271208.2(NEB):c.4652G>A (p.Gly1551Asp)
|
|
NM_001271208.2(NEB):c.4655A>G (p.Tyr1552Cys)
|
rs1257025966 |
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679 |
NM_001271208.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621 |
NM_001271208.2(NEB):c.4736C>T (p.Ala1579Val)
|
|
NM_001271208.2(NEB):c.4789C>T (p.Pro1597Ser)
|
|
NM_001271208.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499 |
NM_001271208.2(NEB):c.4834C>A (p.Arg1612Ser)
|
|
NM_001271208.2(NEB):c.4835G>T (p.Arg1612Leu)
|
rs534531948 |
NM_001271208.2(NEB):c.4843A>G (p.Lys1615Glu)
|
|
NM_001271208.2(NEB):c.4883C>A (p.Pro1628His)
|
|
NM_001271208.2(NEB):c.4894G>A (p.Val1632Ile)
|
rs1575593044 |
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534 |
NM_001271208.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286 |
NM_001271208.2(NEB):c.4939G>A (p.Ala1647Thr)
|
|
NM_001271208.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831 |
NM_001271208.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831 |
NM_001271208.2(NEB):c.5024A>G (p.Gln1675Arg)
|
|
NM_001271208.2(NEB):c.5074G>A (p.Gly1692Ser)
|
|
NM_001271208.2(NEB):c.5087T>C (p.Ile1696Thr)
|
rs937014596 |
NM_001271208.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572 |
NM_001271208.2(NEB):c.5095C>G (p.Leu1699Val)
|
|
NM_001271208.2(NEB):c.5120C>A (p.Ala1707Glu)
|
rs1575576650 |
NM_001271208.2(NEB):c.5123G>A (p.Gly1708Glu)
|
|
NM_001271208.2(NEB):c.5132T>C (p.Leu1711Pro)
|
|
NM_001271208.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996 |
NM_001271208.2(NEB):c.5177C>T (p.Thr1726Ile)
|
|
NM_001271208.2(NEB):c.5211_5213del (p.Asn1737del)
|
rs1553491789 |
NM_001271208.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978 |
NM_001271208.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039 |
NM_001271208.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207 |
NM_001271208.2(NEB):c.5434A>G (p.Arg1812Gly)
|
rs1466182533 |
NM_001271208.2(NEB):c.5444C>G (p.Ala1815Gly)
|
rs767491081 |
NM_001271208.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785 |
NM_001271208.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315 |
NM_001271208.2(NEB):c.5515G>A (p.Asp1839Asn)
|
|
NM_001271208.2(NEB):c.5554A>G (p.Met1852Val)
|
|
NM_001271208.2(NEB):c.5561C>T (p.Ser1854Leu)
|
rs1553485582 |
NM_001271208.2(NEB):c.5565C>A (p.Asp1855Glu)
|
|
NM_001271208.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156 |
NM_001271208.2(NEB):c.5581G>A (p.Gly1861Arg)
|
rs1413371715 |
NM_001271208.2(NEB):c.5612C>A (p.Thr1871Asn)
|
|
NM_001271208.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342 |
NM_001271208.2(NEB):c.5671G>A (p.Ala1891Thr)
|
rs1553484895 |
NM_001271208.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139 |
NM_001271208.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807 |
NM_001271208.2(NEB):c.5717C>T (p.Ala1906Val)
|
|
NM_001271208.2(NEB):c.5761G>T (p.Asp1921Tyr)
|
|
NM_001271208.2(NEB):c.5768A>G (p.Gln1923Arg)
|
rs755003638 |
NM_001271208.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355 |
NM_001271208.2(NEB):c.5806G>A (p.Gly1936Arg)
|
|
NM_001271208.2(NEB):c.5816C>T (p.Pro1939Leu)
|
|
NM_001271208.2(NEB):c.5828T>A (p.Leu1943Gln)
|
|
NM_001271208.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350 |
NM_001271208.2(NEB):c.5912C>T (p.Thr1971Ile)
|
rs762592136 |
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223 |
NM_001271208.2(NEB):c.5945A>C (p.Gln1982Pro)
|
rs1212716508 |
NM_001271208.2(NEB):c.6032C>T (p.Pro2011Leu)
|
|
NM_001271208.2(NEB):c.6046G>C (p.Ala2016Pro)
|
rs1558927613 |
NM_001271208.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792 |
NM_001271208.2(NEB):c.6085A>C (p.Lys2029Gln)
|
rs1387009037 |
NM_001271208.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067 |
NM_001271208.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807 |
NM_001271208.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362 |
NM_001271208.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974 |
NM_001271208.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781 |
NM_001271208.2(NEB):c.6225G>T (p.Met2075Ile)
|
|
NM_001271208.2(NEB):c.6235C>T (p.Arg2079Cys)
|
|
NM_001271208.2(NEB):c.6242T>G (p.Leu2081Arg)
|
|
NM_001271208.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149 |
NM_001271208.2(NEB):c.6262G>A (p.Val2088Ile)
|
|
NM_001271208.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634 |
NM_001271208.2(NEB):c.6298C>T (p.Arg2100Trp)
|
|
NM_001271208.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728 |
NM_001271208.2(NEB):c.6323A>G (p.Asn2108Ser)
|
rs1558891493 |
NM_001271208.2(NEB):c.6325A>G (p.Thr2109Ala)
|
rs578023308 |
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286 |
NM_001271208.2(NEB):c.6388G>A (p.Ala2130Thr)
|
|
NM_001271208.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038 |
NM_001271208.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179 |
NM_001271208.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009 |
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600 |
NM_001271208.2(NEB):c.6479A>G (p.Asn2160Ser)
|
|
NM_001271208.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329 |
NM_001271208.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424 |
NM_001271208.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844 |
NM_001271208.2(NEB):c.6493G>A (p.Asp2165Asn)
|
|
NM_001271208.2(NEB):c.6493G>C (p.Asp2165His)
|
rs1234273631 |
NM_001271208.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965 |
NM_001271208.2(NEB):c.6554G>T (p.Gly2185Val)
|
|
NM_001271208.2(NEB):c.6591A>G (p.Glu2197=)
|
rs1553462437 |
NM_001271208.2(NEB):c.6614G>A (p.Arg2205His)
|
|
NM_001271208.2(NEB):c.6629A>G (p.Asn2210Ser)
|
|
NM_001271208.2(NEB):c.662A>G (p.Tyr221Cys)
|
rs571230045 |
NM_001271208.2(NEB):c.6660G>A (p.Met2220Ile)
|
rs199766131 |
NM_001271208.2(NEB):c.6704A>C (p.His2235Pro)
|
rs372800812 |
NM_001271208.2(NEB):c.6719A>G (p.Asp2240Gly)
|
rs1362776689 |
NM_001271208.2(NEB):c.6732T>G (p.Asp2244Glu)
|
|
NM_001271208.2(NEB):c.6807+5A>G
|
|
NM_001271208.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
|
NM_001271208.2(NEB):c.6868G>A (p.Ala2290Thr)
|
|
NM_001271208.2(NEB):c.6869C>T (p.Ala2290Val)
|
rs756114192 |
NM_001271208.2(NEB):c.6873T>G (p.Ile2291Met)
|
rs1265000238 |
NM_001271208.2(NEB):c.6884T>C (p.Leu2295Pro)
|
|
NM_001271208.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530 |
NM_001271208.2(NEB):c.6916-16_6916-8del
|
|
NM_001271208.2(NEB):c.6961G>A (p.Gly2321Arg)
|
rs1575132924 |
NM_001271208.2(NEB):c.6967C>T (p.Arg2323Trp)
|
|
NM_001271208.2(NEB):c.6968G>A (p.Arg2323Gln)
|
rs369456343 |
NM_001271208.2(NEB):c.6994G>C (p.Val2332Leu)
|
|
NM_001271208.2(NEB):c.7025G>T (p.Ser2342Ile)
|
rs372132667 |
NM_001271208.2(NEB):c.7102C>G (p.Leu2368Val)
|
rs1553449170 |
NM_001271208.2(NEB):c.7160A>G (p.Gln2387Arg)
|
|
NM_001271208.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567 |
NM_001271208.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384 |
NM_001271208.2(NEB):c.7273A>T (p.Ser2425Cys)
|
|
NM_001271208.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626 |
NM_001271208.2(NEB):c.7310G>T (p.Arg2437Leu)
|
|
NM_001271208.2(NEB):c.7324A>G (p.Ile2442Val)
|
rs1553447698 |
NM_001271208.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529 |
NM_001271208.2(NEB):c.7387A>T (p.Met2463Leu)
|
|
NM_001271208.2(NEB):c.739G>A (p.Ala247Thr)
|
|
NM_001271208.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473 |
NM_001271208.2(NEB):c.7469A>C (p.Gln2490Pro)
|
rs1446110323 |
NM_001271208.2(NEB):c.7487A>G (p.Asp2496Gly)
|
|
NM_001271208.2(NEB):c.7549A>G (p.Met2517Val)
|
rs577856870 |
NM_001271208.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057 |
NM_001271208.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458 |
NM_001271208.2(NEB):c.7627C>T (p.Arg2543Trp)
|
|
NM_001271208.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097 |
NM_001271208.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454 |
NM_001271208.2(NEB):c.7646A>G (p.Tyr2549Cys)
|
rs1553984101 |
NM_001271208.2(NEB):c.764C>G (p.Pro255Arg)
|
rs1553663195 |
NM_001271208.2(NEB):c.7691G>T (p.Gly2564Val)
|
rs1334008702 |
NM_001271208.2(NEB):c.7696C>T (p.Arg2566Trp)
|
rs368232288 |
NM_001271208.2(NEB):c.771_772inv (p.Asp258Asn)
|
|
NM_001271208.2(NEB):c.7740G>A (p.Val2580=)
|
|
NM_001271208.2(NEB):c.7778T>C (p.Phe2593Ser)
|
|
NM_001271208.2(NEB):c.7788G>T (p.Trp2596Cys)
|
|
NM_001271208.2(NEB):c.778C>T (p.Pro260Ser)
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|
NM_001271208.2(NEB):c.7808C>T (p.Pro2603Leu)
|
|
NM_001271208.2(NEB):c.7861G>A (p.Asp2621Asn)
|
rs781745506 |
NM_001271208.2(NEB):c.7864G>A (p.Val2622Met)
|
rs905660353 |
NM_001271208.2(NEB):c.7867G>A (p.Asp2623Asn)
|
|
NM_001271208.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178 |
NM_001271208.2(NEB):c.78G>A (p.Glu26=)
|
rs1553702617 |
NM_001271208.2(NEB):c.7906G>A (p.Asp2636Asn)
|
rs760643814 |
NM_001271208.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
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rs1574937918 |
NM_001271208.2(NEB):c.7964A>G (p.Tyr2655Cys)
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|
NM_001271208.2(NEB):c.7983G>T (p.Trp2661Cys)
|
|
NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273 |
NM_001271208.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017 |
NM_001271208.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137 |
NM_001271208.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707 |
NM_001271208.2(NEB):c.8104C>T (p.Leu2702Phe)
|
|
NM_001271208.2(NEB):c.8111A>C (p.Asp2704Ala)
|
|
NM_001271208.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389 |
NM_001271208.2(NEB):c.8146A>G (p.Ile2716Val)
|
rs1574917037 |
NM_001271208.2(NEB):c.8152A>T (p.Met2718Leu)
|
rs767511888 |
NM_001271208.2(NEB):c.8161C>T (p.Arg2721Cys)
|
rs570763682 |
NM_001271208.2(NEB):c.8162G>A (p.Arg2721His)
|
rs753996512 |
NM_001271208.2(NEB):c.8203C>G (p.His2735Asp)
|
rs759848500 |
NM_001271208.2(NEB):c.8219C>T (p.Thr2740Ile)
|
|
NM_001271208.2(NEB):c.8224G>C (p.Glu2742Gln)
|
|
NM_001271208.2(NEB):c.8257T>C (p.Tyr2753His)
|
|
NM_001271208.2(NEB):c.8265+3A>T
|
|
NM_001271208.2(NEB):c.8315T>G (p.Met2772Arg)
|
rs1574896797 |
NM_001271208.2(NEB):c.8326G>C (p.Ala2776Pro)
|
|
NM_001271208.2(NEB):c.8341G>T (p.Ala2781Ser)
|
rs1160244999 |
NM_001271208.2(NEB):c.8356A>G (p.Arg2786Gly)
|
rs201747395 |
NM_001271208.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574 |
NM_001271208.2(NEB):c.8393A>G (p.Tyr2798Cys)
|
rs750799792 |
NM_001271208.2(NEB):c.8467G>A (p.Val2823Met)
|
rs757497327 |
NM_001271208.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802 |
NM_001271208.2(NEB):c.8537C>T (p.Pro2846Leu)
|
|
NM_001271208.2(NEB):c.853A>G (p.Ile285Val)
|
|
NM_001271208.2(NEB):c.8545A>T (p.Met2849Leu)
|
|
NM_001271208.2(NEB):c.8554G>T (p.Val2852Leu)
|
|
NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu)
|
rs1553966356 |
NM_001271208.2(NEB):c.8635G>A (p.Asp2879Asn)
|
|
NM_001271208.2(NEB):c.8644G>A (p.Asp2882Asn)
|
rs200729207 |
NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile)
|
rs369283016 |
NM_001271208.2(NEB):c.8648T>C (p.Val2883Ala)
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|
NM_001271208.2(NEB):c.8683G>A (p.Asp2895Asn)
|
|
NM_001271208.2(NEB):c.8686-3C>T
|
|
NM_001271208.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015 |
NM_001271208.2(NEB):c.8718A>C (p.Arg2906Ser)
|
|
NM_001271208.2(NEB):c.8733_8734inv (p.Ser2912Pro)
|
|
NM_001271208.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064 |
NM_001271208.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688 |
NM_001271208.2(NEB):c.8789A>G (p.Asp2930Gly)
|
|
NM_001271208.2(NEB):c.8834T>C (p.Val2945Ala)
|
|
NM_001271208.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716 |
NM_001271208.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972 |
NM_001271208.2(NEB):c.8897A>G (p.Tyr2966Cys)
|
rs1560822452 |
NM_001271208.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770 |
NM_001271208.2(NEB):c.8972T>G (p.Met2991Arg)
|
|
NM_001271208.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855 |
NM_001271208.2(NEB):c.9002A>G (p.Tyr3001Cys)
|
rs1574635522 |
NM_001271208.2(NEB):c.9007C>G (p.Leu3003Val)
|
rs1415513452 |
NM_001271208.2(NEB):c.902_903delinsAT (p.Arg301Asn)
|
|
NM_001271208.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647 |
NM_001271208.2(NEB):c.904A>G (p.Met302Val)
|
|
NM_001271208.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668 |
NM_001271208.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638 |
NM_001271208.2(NEB):c.9112A>G (p.Lys3038Glu)
|
rs780293943 |
NM_001271208.2(NEB):c.9139C>A (p.His3047Asn)
|
rs147168910 |
NM_001271208.2(NEB):c.9154C>T (p.Arg3052Trp)
|
|
NM_001271208.2(NEB):c.9178A>G (p.Met3060Val)
|
rs538524863 |
NM_001271208.2(NEB):c.9196G>A (p.Val3066Ile)
|
|
NM_001271208.2(NEB):c.9329A>G (p.Tyr3110Cys)
|
rs778306283 |
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735 |
NM_001271208.2(NEB):c.9373G>A (p.Asp3125Asn)
|
|
NM_001271208.2(NEB):c.9383A>G (p.His3128Arg)
|
|
NM_001271208.2(NEB):c.938A>G (p.Gln313Arg)
|
rs1559506055 |
NM_001271208.2(NEB):c.9425A>G (p.Lys3142Arg)
|
rs771774138 |
NM_001271208.2(NEB):c.9466A>T (p.Ile3156Phe)
|
|
NM_001271208.2(NEB):c.9467T>C (p.Ile3156Thr)
|
|
NM_001271208.2(NEB):c.9473C>G (p.Ser3158Cys)
|
rs377606986 |
NM_001271208.2(NEB):c.9481G>A (p.Val3161Met)
|
rs1560693635 |
NM_001271208.2(NEB):c.9494A>G (p.Lys3165Arg)
|
|
NM_001271208.2(NEB):c.9529C>T (p.Arg3177Cys)
|
|
NM_001271208.2(NEB):c.9542A>C (p.Asp3181Ala)
|
rs767042929 |
NM_001271208.2(NEB):c.955A>G (p.Met319Val)
|
|
NM_001271208.2(NEB):c.9568G>T (p.Asp3190Tyr)
|
|
NM_001271208.2(NEB):c.9578A>G (p.Glu3193Gly)
|
rs369985728 |
NM_001271208.2(NEB):c.9587T>G (p.Leu3196Arg)
|
rs754001835 |
NM_001271208.2(NEB):c.9590C>T (p.Ala3197Val)
|
rs778131603 |
NM_001271208.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671 |
NM_001271208.2(NEB):c.9620G>A (p.Arg3207His)
|
rs111841612 |
NM_001271208.2(NEB):c.9620G>T (p.Arg3207Leu)
|
rs111841612 |
NM_001271208.2(NEB):c.9659T>G (p.Ile3220Ser)
|
|
NM_001271208.2(NEB):c.9689T>C (p.Met3230Thr)
|
rs760551196 |
NM_001271208.2(NEB):c.9694G>T (p.Ala3232Ser)
|
rs1329330602 |
NM_001271208.2(NEB):c.9723+4G>A
|
|
NM_001271208.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702 |
NM_001271208.2(NEB):c.9767A>G (p.Tyr3256Cys)
|
rs1365723573 |
NM_001271208.2(NEB):c.9769G>A (p.Asp3257Asn)
|
|
NM_001271208.2(NEB):c.9776G>A (p.Arg3259Gln)
|
|
NM_001271208.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601 |
NM_001271208.2(NEB):c.9827G>A (p.Ser3276Asn)
|
rs1168444365 |
NM_001271208.2(NEB):c.9836A>G (p.Lys3279Arg)
|
|
NM_001271208.2(NEB):c.9853C>T (p.Arg3285Cys)
|
rs370572955 |
NM_001271208.2(NEB):c.9866G>A (p.Gly3289Asp)
|
|
NM_001271208.2(NEB):c.9875T>C (p.Ile3292Thr)
|
|
NM_001271208.2(NEB):c.9878G>C (p.Gly3293Ala)
|
rs199890164 |
NM_001271208.2(NEB):c.9883C>T (p.Arg3295Trp)
|
|
NM_001271208.2(NEB):c.9921G>A (p.Met3307Ile)
|
rs756185799 |
NM_001271208.2(NEB):c.9922C>T (p.His3308Tyr)
|
|
NM_001271208.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076 |
NM_001271208.2(NEB):c.994G>A (p.Glu332Lys)
|
rs748518353 |
NM_001271208.2(NEB):c.9986T>A (p.Phe3329Tyr)
|
|
NM_004543.5(NEB):c.154_168CTGGCACAGCCAGCA[3] (p.52_56LAQPA[3])
|
rs377452683 |