NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NC_000002.11:g.(?_26455008)_(26457243_?)dup
|
|
|
NM_000182.5(HADHA):c.1052del (p.Lys351fs)
|
rs1057516556
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.181-1G>A
|
|
|
NM_000182.5(HADHA):c.1A>G (p.Met1Val)
|
rs1057517430
|
|
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)
|
rs1057516326
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
|
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
NM_000182.5(HADHA):c.314+2T>G
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter)
|
rs1670695099
|
|
NM_000182.5(HADHA):c.3G>A (p.Met1Ile)
|
rs1237270916
|
|
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter)
|
rs1460602961
|
|
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter)
|
rs1670693281
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter)
|
rs11552518
|
|
NM_000182.5(HADHA):c.515del (p.Pro172fs)
|
rs1057517282
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
|
|
|
NM_000182.5(HADHA):c.573+1G>A
|
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter)
|
rs1670589674
|
|
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)
|
rs1300516636
|
|
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
|
|
|
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter)
|
rs1670587952
|
|
NM_000182.5(HADHA):c.67+1G>A
|
|
|
NM_000182.5(HADHA):c.677-1G>A
|
rs1553314070
|
|
NM_000182.5(HADHA):c.677-2A>G
|
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.761del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.799+1G>A
|
|
|
NM_000182.5(HADHA):c.800-1G>T
|
rs1553314024
|
|
NM_000182.5(HADHA):c.800-1_801del
|
rs1553314023
|
|
NM_000182.5(HADHA):c.815C>A (p.Ala272Asp)
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter)
|
rs1670172615
|
|
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter)
|
rs1670172561
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.919-1G>A
|
|
|
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
|
|
|
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)
|
rs1670128490
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000182.5(HADHA):c.976-1G>T
|
rs2147766716
|
|
NM_000182.5(HADHA):c.976-2A>G
|
|
|