NM_000528.4(MAN2B1):c.1419+16C>A
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rs572897959
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0.00024
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NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)
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rs749371047
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0.00009
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NM_000528.4(MAN2B1):c.1419+11C>A
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rs375081677
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0.00007
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NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile)
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rs764898305
|
0.00001
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NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
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rs368899357
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0.00001
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NM_000528.4(MAN2B1):c.1419+12G>A
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rs755497429
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0.00001
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NM_000528.4(MAN2B1):c.1419+7G>C
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rs1235244356
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0.00001
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NM_000528.4(MAN2B1):c.1419+8G>A
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rs1427796893
|
0.00001
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NC_000019.10:g.(?_12656561)_(12661386_?)del
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NM_000528.4(MAN2B1):c.1349G>T (p.Ser450Ile)
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NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
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NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)
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NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
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rs2145256864
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NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)
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rs1160056496
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NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr)
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rs864621984
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NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
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rs864621984
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NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)
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NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
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NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)
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rs2145256884
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NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
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rs2023996617
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NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)
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rs864621985
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NM_000528.4(MAN2B1):c.1371G>A (p.Val457=)
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rs1160690876
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NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
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NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)
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NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)
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NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
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rs775200333
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NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
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rs775200333
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NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
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rs775200333
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NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)
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NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=)
|
rs1485268011
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NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=)
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rs1485268011
|
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NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
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NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)
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NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)
|
rs1555708126
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NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)
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NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
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NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=)
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rs774396746
|
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NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
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NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)
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NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
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NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
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rs2023994563
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NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
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NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)
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NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=)
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rs1382087193
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NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)
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NM_000528.4(MAN2B1):c.1419+13A>G
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NM_000528.4(MAN2B1):c.1419+16C>T
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NM_000528.4(MAN2B1):c.1419+1G>A
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NM_000528.4(MAN2B1):c.1419+1G>T
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NM_000528.4(MAN2B1):c.1419+20G>A
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NM_000528.4(MAN2B1):c.1419+2_1419+15del
|
rs2145256406
|
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NM_000528.4(MAN2B1):c.1419+5G>T
|
rs540367946
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NM_000528.4(MAN2B1):c.1419+7G>A
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NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)
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