NM_000199.5(SGSH):c.250-26C>T
|
rs4889839
|
0.54568
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
NM_000199.5(SGSH):c.664-36T>C
|
rs35087113
|
0.31148
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
NM_000199.5(SGSH):c.89-45G>A
|
rs9900509
|
0.11554
|
NM_000199.5(SGSH):c.89-39G>A
|
rs9900502
|
0.11282
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
NM_000199.5(SGSH):c.664-50G>A
|
rs117217614
|
0.03422
|
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)
|
rs58786455
|
0.02463
|
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)
|
rs34297805
|
0.01381
|
NM_000199.5(SGSH):c.675C>T (p.Phe225=)
|
rs34520362
|
0.00580
|
NM_000199.5(SGSH):c.249+25G>T
|
rs200104349
|
0.00372
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
NM_000199.5(SGSH):c.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
NM_000199.5(SGSH):c.507-7C>T
|
rs200965114
|
0.00056
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr)
|
rs199643693
|
0.00006
|
NM_000199.5(SGSH):c.1359C>T (p.Thr453=)
|
rs751980056
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
|
|
|
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
|
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.664-39_664-38del
|
rs34029730
|
|
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
|
|
|
NM_000199.5(SGSH):c.950-88C>T
|
|
|