NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=)
|
rs548233683
|
0.00016
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001173990.3(TMEM216):c.276C>T (p.Ser92=)
|
rs758830455
|
0.00004
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
NM_001173990.3(TMEM216):c.35-19C>T
|
rs934536093
|
0.00002
|
NM_001173990.3(TMEM216):c.375C>T (p.Leu125=)
|
rs753317056
|
0.00002
|
NM_001173990.3(TMEM216):c.54C>A (p.Thr18=)
|
rs1374118965
|
0.00002
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
NM_001173990.3(TMEM216):c.114A>G (p.Glu38=)
|
rs1425619800
|
0.00001
|
NM_001173990.3(TMEM216):c.136+14G>C
|
rs1397702234
|
0.00001
|
NM_001173990.3(TMEM216):c.136+17G>A
|
rs1444099043
|
0.00001
|
NM_001173990.3(TMEM216):c.137-11T>C
|
rs746269193
|
0.00001
|
NM_001173990.3(TMEM216):c.137-6T>C
|
rs772304194
|
0.00001
|
NM_001173990.3(TMEM216):c.165C>T (p.Asn55=)
|
rs1858736498
|
0.00001
|
NM_001173990.3(TMEM216):c.192C>T (p.Leu64=)
|
rs1314015576
|
0.00001
|
NM_001173990.3(TMEM216):c.220C>T (p.Leu74=)
|
rs190914241
|
0.00001
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
NM_001173990.3(TMEM216):c.34+12G>C
|
rs1336106190
|
0.00001
|
NM_001173990.3(TMEM216):c.34+8T>C
|
rs1359736540
|
0.00001
|
NM_001173990.3(TMEM216):c.408G>T (p.Val136=)
|
rs911000618
|
0.00001
|
NM_001173990.3(TMEM216):c.431+20A>G
|
rs371261722
|
0.00001
|
NM_001173990.3(TMEM216):c.69G>C (p.Leu23=)
|
rs1219199960
|
0.00001
|
NM_001173990.3(TMEM216):c.84G>C (p.Gly28=)
|
rs1237830618
|
0.00001
|
NM_001173990.3(TMEM216):c.108G>A (p.Leu36=)
|
|
|
NM_001173990.3(TMEM216):c.109C>T (p.Leu37=)
|
|
|
NM_001173990.3(TMEM216):c.111G>A (p.Leu37=)
|
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
NM_001173990.3(TMEM216):c.132T>C (p.Tyr44=)
|
rs2135190185
|
|
NM_001173990.3(TMEM216):c.136+10G>A
|
|
|
NM_001173990.3(TMEM216):c.136+10G>C
|
rs997518388
|
|
NM_001173990.3(TMEM216):c.136+10G>T
|
rs997518388
|
|
NM_001173990.3(TMEM216):c.136+11C>T
|
|
|
NM_001173990.3(TMEM216):c.136+16G>T
|
|
|
NM_001173990.3(TMEM216):c.136+17G>T
|
|
|
NM_001173990.3(TMEM216):c.136+19T>C
|
|
|
NM_001173990.3(TMEM216):c.136+7A>G
|
rs2135190198
|
|
NM_001173990.3(TMEM216):c.136+7_136+10del
|
rs1365805182
|
|
NM_001173990.3(TMEM216):c.136+9G>C
|
|
|
NM_001173990.3(TMEM216):c.137-10G>C
|
rs1410739356
|
|
NM_001173990.3(TMEM216):c.137-17G>A
|
|
|
NM_001173990.3(TMEM216):c.137-18dup
|
|
|
NM_001173990.3(TMEM216):c.137-8A>G
|
rs2135190973
|
|
NM_001173990.3(TMEM216):c.138T>C (p.Gly46=)
|
|
|
NM_001173990.3(TMEM216):c.142C>T (p.Leu48=)
|
|
|
NM_001173990.3(TMEM216):c.147A>G (p.Leu49=)
|
rs2135191066
|
|
NM_001173990.3(TMEM216):c.166C>T (p.Leu56=)
|
rs751270974
|
|
NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)
|
|
|
NM_001173990.3(TMEM216):c.189C>A (p.Leu63=)
|
|
|
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
|
|
|
NM_001173990.3(TMEM216):c.213A>G (p.Val71=)
|
rs1590642429
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.219C>T (p.Arg73=)
|
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
NM_001173990.3(TMEM216):c.229+15G>C
|
|
|
NM_001173990.3(TMEM216):c.229+17G>A
|
|
|
NM_001173990.3(TMEM216):c.229+19A>G
|
|
|
NM_001173990.3(TMEM216):c.230-12T>C
|
|
|
NM_001173990.3(TMEM216):c.230-16G>A
|
|
|
NM_001173990.3(TMEM216):c.230-20C>T
|
|
|
NM_001173990.3(TMEM216):c.240A>G (p.Gly80=)
|
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.264G>C (p.Pro88=)
|
rs3741265
|
|
NM_001173990.3(TMEM216):c.273T>C (p.Ile91=)
|
rs1301636574
|
|
NM_001173990.3(TMEM216):c.279G>A (p.Val93=)
|
|
|
NM_001173990.3(TMEM216):c.27G>T (p.Ala9=)
|
rs2135189216
|
|
NM_001173990.3(TMEM216):c.282C>A (p.Ala94=)
|
rs2135196141
|
|
NM_001173990.3(TMEM216):c.282C>T (p.Ala94=)
|
|
|
NM_001173990.3(TMEM216):c.312C>T (p.Ser104=)
|
rs748312089
|
|
NM_001173990.3(TMEM216):c.322C>T (p.Leu108=)
|
rs1468325310
|
|
NM_001173990.3(TMEM216):c.34+10C>G
|
|
|
NM_001173990.3(TMEM216):c.34+10C>T
|
|
|
NM_001173990.3(TMEM216):c.34+11G>A
|
|
|
NM_001173990.3(TMEM216):c.34+11G>T
|
|
|
NM_001173990.3(TMEM216):c.34+12G>A
|
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.34+7T>A
|
|
|
NM_001173990.3(TMEM216):c.345C>T (p.Arg115=)
|
rs2135196327
|
|
NM_001173990.3(TMEM216):c.35-10C>G
|
rs1425807113
|
|
NM_001173990.3(TMEM216):c.35-10_35-8dup
|
|
|
NM_001173990.3(TMEM216):c.35-13G>C
|
|
|
NM_001173990.3(TMEM216):c.35-18T>A
|
|
|
NM_001173990.3(TMEM216):c.35-18T>G
|
|
|
NM_001173990.3(TMEM216):c.35-6T>C
|
rs2135189967
|
|
NM_001173990.3(TMEM216):c.35-8T>G
|
|
|
NM_001173990.3(TMEM216):c.35-9C>G
|
rs1590641748
|
|
NM_001173990.3(TMEM216):c.354C>T (p.Ala118=)
|
rs2135196342
|
|
NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)
|
|
|
NM_001173990.3(TMEM216):c.378C>T (p.Phe126=)
|
|
|
NM_001173990.3(TMEM216):c.387C>G (p.Gly129=)
|
|
|
NM_001173990.3(TMEM216):c.411C>T (p.Leu137=)
|
|
|
NM_001173990.3(TMEM216):c.414C>A (p.Thr138=)
|
rs551378370
|
|
NM_001173990.3(TMEM216):c.414C>G (p.Thr138=)
|
|
|
NM_001173990.3(TMEM216):c.414C>T (p.Thr138=)
|
rs551378370
|
|
NM_001173990.3(TMEM216):c.423T>C (p.Ala141=)
|
rs1363465105
|
|
NM_001173990.3(TMEM216):c.431+10C>T
|
|
|
NM_001173990.3(TMEM216):c.431+17A>C
|
|
|
NM_001173990.3(TMEM216):c.431+7C>T
|
rs976039770
|
|
NM_001173990.3(TMEM216):c.431+9G>A
|
|
|
NM_001173990.3(TMEM216):c.432-10G>A
|
|
|
NM_001173990.3(TMEM216):c.432-12T>C
|
|
|
NM_001173990.3(TMEM216):c.432-13A>G
|
|
|
NM_001173990.3(TMEM216):c.432-15C>A
|
|
|
NM_001173990.3(TMEM216):c.432-16G>C
|
|
|
NM_001173990.3(TMEM216):c.432-19T>C
|
|
|
NM_001173990.3(TMEM216):c.435T>A (p.Ile145=)
|
rs2135196990
|
|
NM_001173990.3(TMEM216):c.43T>C (p.Leu15=)
|
|
|
NM_001173990.3(TMEM216):c.4C>T (p.Leu2=)
|
rs1554972407
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001173990.3(TMEM216):c.67C>T (p.Leu23=)
|
rs1346125980
|
|
NM_001173990.3(TMEM216):c.69G>A (p.Leu23=)
|
|
|
NM_001173990.3(TMEM216):c.6G>A (p.Leu2=)
|
|
|
NM_001173990.3(TMEM216):c.75T>C (p.Phe25=)
|
rs2135190080
|
|
NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)
|
|
|
NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)
|
|
|
NM_001173990.3(TMEM216):c.84G>A (p.Gly28=)
|
rs1237830618
|
|