|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
|
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
0.00003
|
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
|
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val)
|
rs727504011
|
0.00001
|
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
0.00001
|
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.1184_1192delinsGCATTTGAAGAAA (p.Asn395_Leu398delinsSerIleTer)
|
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1208del (p.Asn403fs)
|
|
|
|
NM_022132.5(MCCC2):c.1216+2T>A
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.129+1G>T
|
rs1744812773
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
|
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
|
|
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
|
NM_022132.5(MCCC2):c.231_232del (p.Gly79fs)
|
|
|
|
NM_022132.5(MCCC2):c.253G>T (p.Glu85Ter)
|
|
|
|
NM_022132.5(MCCC2):c.327T>A (p.Tyr109Ter)
|
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
|
NM_022132.5(MCCC2):c.511+2C>T
|
|
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
|
NM_022132.5(MCCC2):c.671C>T (p.Pro224Leu)
|
|
|
|
NM_022132.5(MCCC2):c.685G>T (p.Glu229Ter)
|
|
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
|
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met)
|
rs991996366
|
|
|
NM_022132.5(MCCC2):c.843_844delinsCTTTGGATCACTTTGG (p.His282fs)
|
|
|