|
NM_000278.5(PAX2):c.798C>T (p.Asn266=)
|
rs1800897
|
0.12916
|
|
NM_000278.5(PAX2):c.792+9G>A
|
rs79552202
|
0.00974
|
|
NM_000278.5(PAX2):c.213-8C>T
|
rs369615430
|
0.00101
|
|
NM_000278.5(PAX2):c.819G>C (p.Leu273=)
|
rs144433354
|
0.00090
|
|
NM_000278.5(PAX2):c.212+12G>A
|
rs546505132
|
0.00048
|
|
NM_000278.5(PAX2):c.354C>T (p.Leu118=)
|
rs142934523
|
0.00040
|
|
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn)
|
rs370214925
|
0.00026
|
|
NM_000278.5(PAX2):c.963C>T (p.His321=)
|
rs138750534
|
0.00024
|
|
NM_000278.5(PAX2):c.496+9G>T
|
rs577483360
|
0.00016
|
|
NM_000278.5(PAX2):c.411-11C>T
|
rs541291517
|
0.00012
|
|
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)
|
rs138490772
|
0.00007
|
|
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr)
|
rs749684940
|
0.00007
|
|
NM_000278.5(PAX2):c.528C>T (p.Ser176=)
|
rs369240774
|
0.00006
|
|
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)
|
rs767995614
|
0.00005
|
|
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys)
|
rs756570535
|
0.00005
|
|
NM_000278.5(PAX2):c.584G>A (p.Arg195His)
|
rs201880460
|
0.00004
|
|
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser)
|
rs148402788
|
0.00004
|
|
NM_000278.5(PAX2):c.954C>T (p.Tyr318=)
|
rs78122364
|
0.00003
|
|
NM_000278.5(PAX2):c.1021+137C>T
|
rs1848496928
|
0.00001
|
|
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu)
|
rs774231216
|
0.00001
|
|
NM_000278.5(PAX2):c.450G>A (p.Thr150=)
|
rs1386529275
|
0.00001
|
|
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln)
|
rs199919058
|
0.00001
|
|
NM_000278.5(PAX2):c.477C>T (p.Thr159=)
|
rs201775091
|
0.00001
|
|
NM_000278.5(PAX2):c.616+5648T>C
|
rs747453876
|
0.00001
|
|
NM_000278.5(PAX2):c.735T>C (p.Phe245=)
|
rs746316295
|
0.00001
|
|
NM_000278.5(PAX2):c.740G>A (p.Arg247His)
|
rs747639879
|
0.00001
|
|
NM_000278.5(PAX2):c.757G>A (p.Val253Ile)
|
rs770703982
|
0.00001
|
|
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu)
|
rs757989097
|
0.00001
|
|
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
|
|
|
|
NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)
|
|
|
|
NM_000278.5(PAX2):c.1075G>C (p.Glu359Gln)
|
|
|
|
NM_000278.5(PAX2):c.107T>A (p.Val36Glu)
|
|
|
|
NM_000278.5(PAX2):c.111G>A (p.Val37=)
|
|
|
|
NM_000278.5(PAX2):c.1181A>C (p.His394Pro)
|
|
|
|
NM_000278.5(PAX2):c.169C>T (p.Gln57Ter)
|
|
|
|
NM_000278.5(PAX2):c.195C>G (p.Val65=)
|
|
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
|
NM_000278.5(PAX2):c.227G>A (p.Gly76Asp)
|
|
|
|
NM_000278.5(PAX2):c.230G>A (p.Ser77Asn)
|
|
|
|
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.240G>A (p.Pro80=)
|
rs576772135
|
|
|
NM_000278.5(PAX2):c.242G>T (p.Gly81Val)
|
|
|
|
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser)
|
rs2133836340
|
|
|
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)
|
rs1845412705
|
|
|
NM_000278.5(PAX2):c.411-14_411-10dup
|
rs1227571557
|
|
|
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)
|
rs1217241110
|
|
|
NM_000278.5(PAX2):c.449C>T (p.Thr150Met)
|
|
|
|
NM_000278.5(PAX2):c.452C>T (p.Pro151Leu)
|
rs199919058
|
|
|
NM_000278.5(PAX2):c.467C>T (p.Thr156Ile)
|
|
|
|
NM_000278.5(PAX2):c.481C>T (p.Pro161Ser)
|
|
|
|
NM_000278.5(PAX2):c.483del (p.Gly162fs)
|
rs2133894273
|
|
|
NM_000278.5(PAX2):c.517C>T (p.Pro173Ser)
|
|
|
|
NM_000278.5(PAX2):c.538G>A (p.Asp180Asn)
|
rs1846612619
|
|
|
NM_000278.5(PAX2):c.628G>A (p.Gly210Ser)
|
|
|
|
NM_000278.5(PAX2):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)
|
rs76492282
|
|
|
NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)
|
|
|
|
NM_000278.5(PAX2):c.69del (p.Val26fs)
|
|
|
|
NM_000278.5(PAX2):c.71G>T (p.Gly24Val)
|
|
|
|
NM_000278.5(PAX2):c.76del (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
|
NM_000278.5(PAX2):c.835G>A (p.Glu279Lys)
|
|
|
|
NM_000278.5(PAX2):c.839T>C (p.Val280Ala)
|
|
|
|
NM_000278.5(PAX2):c.845C>A (p.Ser282Ter)
|
|
|
|
NM_000278.5(PAX2):c.848G>T (p.Ser283Ile)
|
|
|
|
NM_000278.5(PAX2):c.89G>A (p.Gly30Asp)
|
|
|
|
NM_000278.5(PAX2):c.915G>C (p.Val305=)
|
|
|
|
NM_000278.5(PAX2):c.952del (p.Tyr318fs)
|
|
|
|
NM_000278.5(PAX2):c.959C>T (p.Pro320Leu)
|
|
|
|
NM_000278.5(PAX2):c.961delinsTA (p.His321Ter)
|
|
|