NM_080704.4(TRPV1):c.-34+7395T>C
|
rs161380
|
0.83591
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_004937.3(CTNS):c.461+8C>T
|
rs368822078
|
0.00003
|
NM_004937.3(CTNS):c.-8C>T
|
rs372701935
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.-19-1G>A
|
rs1555558034
|
|
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)
|
rs745806090
|
|
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)
|
rs1555564879
|
|
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)
|
rs779451531
|
|
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)
|
rs1057517330
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)
|
rs786204550
|
|
NM_004937.3(CTNS):c.20del (p.Thr7fs)
|
rs1555558078
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.225+5_225+7dup
|
rs1555561050
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.251del (p.Asn84fs)
|
rs1057516296
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
NM_004937.3(CTNS):c.320_323del (p.Asn107fs)
|
rs1555562830
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)
|
rs1555563010
|
|
NM_004937.3(CTNS):c.462-27_462-3del
|
rs1555563374
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)
|
rs745365232
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.562-2_562-1del
|
rs1555563521
|
|
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)
|
rs1555563568
|
|
NM_004937.3(CTNS):c.61+1G>A
|
rs1555558116
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
NM_004937.3(CTNS):c.62-2A>G
|
rs1555560637
|
|
NM_004937.3(CTNS):c.681+1del
|
rs1555563658
|
|
NM_004937.3(CTNS):c.681+2T>C
|
rs1057516723
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
NM_004937.3(CTNS):c.682-1G>A
|
rs1057516771
|
|
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)
|
rs1555563962
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)
|
rs763089013
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
NM_004937.3(CTNS):c.809_811del (p.Ser270del)
|
rs786204632
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)
|
rs1555564600
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)
|
rs1064795587
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
NM_004937.3(CTNS):c.971-1dup
|
rs1555564823
|
|