NC_000016.10:g.176440C>T
|
rs142815667
|
0.99999
|
NM_000558.5(HBA1):c.-24C>G
|
rs374054030
|
0.04854
|
NM_000558.5(HBA1):c.300+55G>T
|
rs148228241
|
0.01925
|
NM_000558.5(HBA1):c.95+39C>T
|
rs577938658
|
0.01700
|
NM_000558.5(HBA1):c.*46C>A
|
rs141514155
|
0.01440
|
NM_000558.5(HBA1):c.-42C>T
|
rs370305736
|
0.00968
|
NM_000558.5(HBA1):c.95+38C>T
|
rs556086584
|
0.00182
|
NM_000558.5(HBA1):c.396T>C (p.Ser132=)
|
rs149264789
|
0.00085
|
NM_000558.3(HBA1):c.-77C>G
|
rs866267079
|
0.00070
|
NM_000558.5(HBA1):c.95+41G>T
|
rs545248706
|
0.00032
|
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)
|
rs33960522
|
0.00030
|
NM_000558.5(HBA1):c.301-17C>A
|
rs571422135
|
0.00025
|
NM_000558.5(HBA1):c.300+47C>A
|
rs748369967
|
0.00018
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
0.00009
|
NM_000558.5(HBA1):c.250C>T (p.Leu84=)
|
rs754145030
|
0.00008
|
NM_000558.5(HBA1):c.95+5G>A
|
rs63750918
|
0.00008
|
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys)
|
rs1060339
|
0.00007
|
NM_000558.4(HBA1):c.-41C>G
|
rs750737757
|
0.00006
|
NM_000558.3(HBA1):c.193G>C (p.Asp65His)
|
rs33984024
|
0.00004
|
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)
|
rs63750751
|
0.00004
|
NM_000558.5(HBA1):c.353_355dup (p.Phe118_Thr119insIle)
|
rs756774032
|
0.00003
|
NM_000558.5(HBA1):c.364G>A (p.Val122Met)
|
rs63751008
|
0.00003
|
NM_000558.3(HBA1):c.341T>A (p.Leu114His)
|
rs35654345
|
0.00001
|
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)
|
rs35993655
|
0.00001
|
NM_000558.5(HBA1):c.178G>A (p.Gly60Ser)
|
rs281864895
|
0.00001
|
NM_000558.5(HBA1):c.255C>A (p.Ser85Arg)
|
rs33996798
|
0.00001
|
NM_000558.5(HBA1):c.301-19G>A
|
rs765563255
|
0.00001
|
NM_000558.5(HBA1):c.301-49C>T
|
rs1237458487
|
0.00001
|
NM_000558.5(HBA1):c.326C>A (p.Thr109Asn)
|
rs756810015
|
0.00001
|
NM_000558.5(HBA1):c.337C>G (p.His113Asp)
|
rs34830032
|
0.00001
|
NM_000558.5(HBA1):c.55G>A (p.Gly19Ser)
|
rs34504387
|
0.00001
|
NM_000558.5(HBA1):c.62A>C (p.His21Pro)
|
rs33943087
|
0.00001
|
NM_000558.5(HBA1):c.63C>A (p.His21Gln)
|
rs281864502
|
0.00001
|
NC_000016.10:g.(?_176012)_(177299_?)del
|
|
|
NC_000016.10:g.(?_176717)_(177411_?)del
|
|
|
NM_000558.3(HBA1):c.*116del
|
rs1567165451
|
|
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)
|
rs33978134
|
|
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn)
|
rs34269448
|
|
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)
|
rs33960522
|
|
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)
|
rs28928878
|
|
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)
|
rs33986902
|
|
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)
|
rs33977363
|
|
NM_000558.3(HBA1):c.256G>A (p.Asp86Asn)
|
rs33915947
|
|
NM_000558.3(HBA1):c.270C>G (p.His90Gln)
|
rs1061009
|
|
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr)
|
rs33911106
|
|
NM_000558.3(HBA1):c.283G>C (p.Asp95His)
|
rs34102339
|
|
NM_000558.3(HBA1):c.287C>G (p.Pro96Arg)
|
rs33931314
|
|
NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)
|
rs33910377
|
|
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)
|
rs63749882
|
|
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)
|
rs41407250
|
|
NM_000558.4(HBA1):c.-52C>T
|
rs1276035978
|
|
NM_000558.5(HBA1):c.*45C>G
|
rs1210172747
|
|
NM_000558.5(HBA1):c.-15C>G
|
|
|
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg)
|
rs35203445
|
|
NM_000558.5(HBA1):c.146T>C (p.Leu49Pro)
|
rs281864480
|
|
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)
|
rs1318437795
|
|
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)
|
rs35317336
|
|
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)
|
rs281864895
|
|
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)
|
rs34090856
|
|
NM_000558.5(HBA1):c.181A>C (p.Lys61Gln)
|
|
|
NM_000558.5(HBA1):c.181AAG[1] (p.Lys62del)
|
rs34353199
|
|
NM_000558.5(HBA1):c.186G>T (p.Lys62Asn)
|
rs281864775
|
|
NM_000558.5(HBA1):c.187del (p.Val63fs)
|
rs1377412693
|
|
NM_000558.5(HBA1):c.198_209dup (p.Leu67_Ala70dup)
|
rs34277525
|
|
NM_000558.5(HBA1):c.19G>C (p.Asp7His)
|
rs33961916
|
|
NM_000558.5(HBA1):c.1A>G (p.Met1Val)
|
|
|
NM_000558.5(HBA1):c.205A>G (p.Asn69Asp)
|
rs34823698
|
|
NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)
|
rs28928875
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del)
|
rs759750475
|
|
NM_000558.5(HBA1):c.237C>A (p.Asn79Lys)
|
|
|
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn)
|
rs34410516
|
|
NM_000558.5(HBA1):c.256G>C (p.Asp86His)
|
rs33915947
|
|
NM_000558.5(HBA1):c.264C>G (p.His88Gln)
|
|
|
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn)
|
rs33914470
|
|
NM_000558.5(HBA1):c.283_300+3dup
|
rs1902161681
|
|
NM_000558.5(HBA1):c.300+1G>T
|
rs758093235
|
|
NM_000558.5(HBA1):c.300+42T>C
|
|
|
NM_000558.5(HBA1):c.301-31_301-24delinsG
|
rs1902166069
|
|
NM_000558.5(HBA1):c.309C>A (p.Ser103Arg)
|
rs34098449
|
|
NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)
|
|
|
NM_000558.5(HBA1):c.328del (p.Leu110fs)
|
rs281864535
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000558.5(HBA1):c.335C>T (p.Ala112Val)
|
rs1596574253
|
|
NM_000558.5(HBA1):c.337_351dup (p.His113_Glu117dup)
|
rs1902168590
|
|
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala)
|
rs35932809
|
|
NM_000558.5(HBA1):c.358_362del (p.Pro120fs)
|
rs2142021563
|
|
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)
|
rs63749927
|
|
NM_000558.5(HBA1):c.365T>A (p.Val122Glu)
|
rs775764044
|
|
NM_000558.5(HBA1):c.397G>A (p.Val133Met)
|
|
|
NM_000558.5(HBA1):c.413C>T (p.Thr138Ile)
|
rs1596574446
|
|
NM_000558.5(HBA1):c.416C>G (p.Ser139Cys)
|
rs63749989
|
|
NM_000558.5(HBA1):c.417C>G (p.Ser139=)
|
|
|
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)
|
rs33964317
|
|
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)
|
rs281865560
|
|
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)
|
|
|
NM_000558.5(HBA1):c.69C>T (p.Gly23=)
|
|
|
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)
|
rs41530750
|
|
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)
|
rs33993166
|
|
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)
|
rs1596573477
|
|
NM_000558.5(HBA1):c.95+1G>A
|
rs1201093320
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_000558.5(HBA1):c.95+9C>T
|
|
|
NM_000558.5(HBA1):c.96-2A>G
|
|
|
NM_000558.5(HBA1):c.98T>A (p.Met33Lys)
|
rs281864566
|
|