NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_052845.3(MMAB):c.-180C>T
|
rs66486014
|
0.00733
|
NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
|
rs115802744
|
0.00177
|
NM_052845.4(MMAB):c.-4G>C
|
rs372195202
|
0.00134
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)
|
rs533819939
|
0.00004
|
NM_052845.4(MMAB):c.52C>A (p.Leu18Met)
|
rs374802787
|
0.00004
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
|
rs1466525448
|
0.00001
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NC_000012.11:g.(?_110009444)_(110012715_?)del
|
|
|
NC_000012.11:g.(?_110011228)_(110017709_?)del
|
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052845.4(MMAB):c.-9G>T
|
rs554831769
|
|
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
|
|
|
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
|
rs1884735595
|
|
NM_052845.4(MMAB):c.107del (p.Gly36fs)
|
rs1555276160
|
|
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
|
|
|
NM_052845.4(MMAB):c.108C>T (p.Gly36=)
|
rs2136213363
|
|
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
|
|
|
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
|
|
|
NM_052845.4(MMAB):c.116del (p.Gly39fs)
|
|
|
NM_052845.4(MMAB):c.126C>T (p.Asp42=)
|
rs2136213327
|
|
NM_052845.4(MMAB):c.132C>T (p.Asp44=)
|
rs747649185
|
|
NM_052845.4(MMAB):c.134+10T>G
|
|
|
NM_052845.4(MMAB):c.134+14G>A
|
|
|
NM_052845.4(MMAB):c.134+16del
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
NM_052845.4(MMAB):c.134+20G>A
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
NM_052845.4(MMAB):c.134+7G>A
|
|
|
NM_052845.4(MMAB):c.16C>T (p.Leu6=)
|
rs1190176115
|
|
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
|
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
|
rs1884749143
|
|
NM_052845.4(MMAB):c.23del (p.Ser8fs)
|
rs2136213668
|
|
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
|
|
|
NM_052845.4(MMAB):c.27T>C (p.Arg9=)
|
rs1311011214
|
|
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
|
|
|
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
|
|
|
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
|
rs757088429
|
|
NM_052845.4(MMAB):c.32del (p.Gly11fs)
|
|
|
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
|
|
|
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
|
|
|
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
|
rs374802787
|
|
NM_052845.4(MMAB):c.54G>A (p.Leu18=)
|
rs1884741296
|
|
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
|
|
|
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
|
rs36013132
|
|
NM_052845.4(MMAB):c.57C>G (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.60G>A (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.61dup (p.Cys21fs)
|
rs2136213505
|
|
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
NM_052845.4(MMAB):c.66C>T (p.Phe22=)
|
rs765869812
|
|
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
|
|
|
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
|
|
|
NM_052845.4(MMAB):c.7G>A (p.Val3Met)
|
rs1884748119
|
|
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
|
rs747142605
|
|
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)
|
rs2136213423
|
|
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
|
|
|