NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
0.00002
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4528-2A>G
|
rs1213965862
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)
|
rs1476505138
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
|
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
|
NM_001130987.2(DYSF):c.1233_1239dup (p.Cys414fs)
|
rs2152748641
|
|
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)
|
rs1559079887
|
|
NM_001130987.2(DYSF):c.1529_1530del (p.Thr510fs)
|
rs2152766936
|
|
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs)
|
rs786205632
|
|
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs)
|
rs774402454
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.2351del (p.Pro784fs)
|
|
|
NM_001130987.2(DYSF):c.2831G>A (p.Trp944Ter)
|
rs2152811441
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.300del (p.Ser101fs)
|
|
|
NM_001130987.2(DYSF):c.3085+1G>A
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.4387+1G>T
|
rs2152877211
|
|
NM_001130987.2(DYSF):c.4387+2T>A
|
rs759939755
|
|
NM_001130987.2(DYSF):c.4755+1G>A
|
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
|
NM_001130987.2(DYSF):c.5135del (p.Lys1712fs)
|
rs1064797253
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5547-1G>C
|
rs1573094617
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)
|
rs886042452
|
|
NM_001130987.2(DYSF):c.6197G>A (p.Trp2066Ter)
|
|
|
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)
|
rs886043884
|
|
NM_001130987.2(DYSF):c.6335T>G (p.Met2112Arg)
|
|
|
NM_001130987.2(DYSF):c.701del (p.Arg234fs)
|
rs2152731932
|
|
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu)
|
rs786205525
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001130987.2(DYSF):c.92-1G>A
|
rs786205524
|
|
NM_001130987.2(DYSF):c.951+3_951+4del
|
rs1573663867
|
|
NM_001130987.2(DYSF):c.952-2_952-1del
|
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)
|
rs2080944539
|
|