NM_004937.3(CTNS):c.444G>A (p.Met148Ile)
|
rs199977728
|
0.00023
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_004937.3(CTNS):c.-19-1G>A
|
rs1555558034
|
|
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
|
|
|
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)
|
rs1057517330
|
|
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
|
|
|
NM_004937.3(CTNS):c.140+1G>C
|
|
|
NM_004937.3(CTNS):c.140+1_140+20del
|
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
NM_004937.3(CTNS):c.140+2dup
|
|
|
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+1G>C
|
|
|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.226-1G>A
|
|
|
NM_004937.3(CTNS):c.228del (p.Val77fs)
|
|
|
NM_004937.3(CTNS):c.251del (p.Asn84fs)
|
rs1057516296
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
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.395G>A (p.Trp132Ter)
|
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)
|
rs1555563010
|
|
NM_004937.3(CTNS):c.462-1G>A
|
|
|
NM_004937.3(CTNS):c.486del (p.Phe162fs)
|
|
|
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
|
|
|
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
|
|
|
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
|
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.562-2A>G
|
|
|
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.600del (p.Pro200_Val201insTer)
|
|
|
NM_004937.3(CTNS):c.61+1G>A
|
rs1555558116
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)
|
rs2150889009
|
|
NM_004937.3(CTNS):c.62-2A>G
|
rs1555560637
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
NM_004937.3(CTNS):c.681+1del
|
rs1555563658
|
|
NM_004937.3(CTNS):c.681+2T>C
|
rs1057516723
|
|
NM_004937.3(CTNS):c.682-1G>A
|
rs1057516771
|
|
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.768dup (p.Val257fs)
|
rs1567713938
|
|
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.814_818delinsT (p.Ile272fs)
|
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
NM_004937.3(CTNS):c.853-2A>G
|
rs1475322504
|
|
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
|
|
|
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)
|
rs1555564600
|
|
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
|
|
|
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
|
|
|
NM_004937.3(CTNS):c.971-1G>C
|
rs2142982540
|
|
NM_004937.3(CTNS):c.971-1dup
|
rs1555564823
|
|
NM_004937.3(CTNS):c.971-2A>G
|
|
|
NM_004937.3(CTNS):c.971-2dup
|
|
|
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)
|
|
|