NC_000019.10:g.41397770A>G
|
rs892043
|
0.96880
|
NM_000709.4(BCKDHA):c.1167+177T>C
|
rs284656
|
0.66699
|
NM_000709.4(BCKDHA):c.853+61T>C
|
rs284651
|
0.66684
|
NM_000709.4(BCKDHA):c.484+149T>C
|
rs3213860
|
0.66682
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
NM_000709.4(BCKDHA):c.995+90C>T
|
rs284655
|
0.66401
|
NM_000709.4(BCKDHA):c.995+49G>A
|
rs284654
|
0.63462
|
NM_000709.4(BCKDHA):c.108+325C>T
|
rs3810174
|
0.62598
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
NM_000709.4(BCKDHA):c.995+26C>T
|
rs284653
|
0.37723
|
NM_000709.3(BCKDHA):c.-312A>T
|
rs12983789
|
0.26042
|
NM_000709.4(BCKDHA):c.646+210A>G
|
rs284647
|
0.12222
|
NM_000709.4(BCKDHA):c.853+118G>A
|
rs73931483
|
0.03843
|
NM_000709.4(BCKDHA):c.375+74A>G
|
rs73931479
|
0.03622
|
NM_000709.4(BCKDHA):c.484+169T>A
|
rs73931480
|
0.03619
|
NM_000709.4(BCKDHA):c.1168-66C>T
|
rs78812877
|
0.02948
|
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)
|
rs34492894
|
0.02893
|
NM_000709.4(BCKDHA):c.996-6G>A
|
rs74586298
|
0.02713
|
NM_000709.4(BCKDHA):c.*309A>G
|
rs10421626
|
0.02605
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
NC_000019.10:g.41397667del
|
rs201164681
|
0.01786
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_000709.4(BCKDHA):c.*125C>T
|
rs140867211
|
0.00851
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
NM_000709.4(BCKDHA):c.996-68C>T
|
rs10407077
|
0.00784
|
NM_000709.4(BCKDHA):c.646+149A>G
|
rs78727437
|
0.00754
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
NM_000709.3(BCKDHA):c.-28C>G
|
rs114587707
|
0.00580
|
NM_000709.4(BCKDHA):c.289-45C>G
|
rs200242482
|
0.00447
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
NM_000709.4(BCKDHA):c.996-18C>T
|
rs201511678
|
0.00271
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
NM_000709.4(BCKDHA):c.853+30C>T
|
rs150511115
|
0.00139
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)
|
rs61737367
|
0.00101
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_000709.4(BCKDHA):c.646+13G>A
|
rs201333801
|
0.00038
|
NM_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)
|
rs150700696
|
0.00020
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)
|
rs138025447
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_000709.4(BCKDHA):c.995+19G>A
|
rs373076000
|
0.00014
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=)
|
rs376446100
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_000709.4(BCKDHA):c.*68G>A
|
rs375492462
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000709.4(BCKDHA):c.996-26A>G
|
rs757986569
|
0.00004
|
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)
|
rs775754845
|
0.00003
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.*17C>T
|
rs372125840
|
0.00001
|
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)
|
rs766755823
|
0.00001
|
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)
|
rs749795206
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
NC_000019.10:g.41397669T>A
|
rs530303012
|
|
NC_000019.10:g.41397677del
|
rs10712417
|
|
NC_000019.10:g.41397766A>G
|
rs892044
|
|
NM_000709.3(BCKDHA):c.-22C>A
|
rs201197268
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)
|
rs11549935
|
|
NM_000709.4(BCKDHA):c.1167+17C>G
|
rs550593850
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)
|
rs398123498
|
|
NM_000709.4(BCKDHA):c.62C>T (p.Ala21Val)
|
|
|
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)
|
rs140322984
|
|
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)
|
rs114716391
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.853+11T>C
|
rs1555767032
|
|
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
|
|
|
NM_000709.4(BCKDHA):c.996-33dup
|
rs3217385
|
|