NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile)
|
rs1479789276
|
0.00001
|
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg)
|
rs1574906609
|
0.00001
|
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile)
|
rs1403165900
|
0.00001
|
NC_000003.11:g.(?_11058898)_(11062028_?)del
|
|
|
NC_000003.11:g.(?_11058898)_(11064174_?)del
|
|
|
NC_000003.11:g.(?_11067270)_(11069305_?)del
|
|
|
NC_000003.12:g.11031181dup
|
|
|
NM_003042.3(SLC6A1):c.1328del
|
rs1199489242
|
|
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro)
|
rs749240316
|
|
NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs)
|
rs2124926277
|
|
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met)
|
rs760836450
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.1072del (p.Ala358fs)
|
rs1064796533
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
|
|
|
NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)
|
|
|
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter)
|
rs1553690452
|
|
NM_003042.4(SLC6A1):c.1192-1G>A
|
rs1697775354
|
|
NM_003042.4(SLC6A1):c.1192-2A>G
|
rs1697775287
|
|
NM_003042.4(SLC6A1):c.1199C>T (p.Thr400Ile)
|
|
|
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs)
|
rs1574913614
|
|
NM_003042.4(SLC6A1):c.1223T>G (p.Leu408Arg)
|
rs2124931871
|
|
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs)
|
rs1553690583
|
|
NM_003042.4(SLC6A1):c.1308_1311del (p.Ser437fs)
|
rs1553690601
|
|
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)
|
rs1553687863
|
|
NM_003042.4(SLC6A1):c.1311dup (p.Asn438Ter)
|
rs2124932157
|
|
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)
|
rs794726859
|
|
NM_003042.4(SLC6A1):c.1323+1G>A
|
rs2124932194
|
|
NM_003042.4(SLC6A1):c.1324-2del
|
rs2124936720
|
|
NM_003042.4(SLC6A1):c.1335dup (p.Val446fs)
|
rs1574917501
|
|
NM_003042.4(SLC6A1):c.1366A>C (p.Ser456Arg)
|
rs1697893468
|
|
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys)
|
rs1697893468
|
|
NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs)
|
rs876657401
|
|
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)
|
rs1064795099
|
|
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg)
|
rs1064795099
|
|
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter)
|
rs745529755
|
|
NM_003042.4(SLC6A1):c.148_151del (p.Arg50fs)
|
rs1697194864
|
|
NM_003042.4(SLC6A1):c.1495T>C (p.Cys499Arg)
|
rs2124942597
|
|
NM_003042.4(SLC6A1):c.1500G>A (p.Trp500Ter)
|
rs1698023156
|
|
NM_003042.4(SLC6A1):c.1513C>A (p.Pro505Thr)
|
rs1698023649
|
|
NM_003042.4(SLC6A1):c.1528-1G>A
|
|
|
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)
|
rs1064794981
|
|
NM_003042.4(SLC6A1):c.1552C>T (p.Gln518Ter)
|
|
|
NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val)
|
rs1697195476
|
|
NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu)
|
rs1697195588
|
|
NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser)
|
rs1697195703
|
|
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter)
|
rs1559640454
|
|
NM_003042.4(SLC6A1):c.1600C>T (p.Gln534Ter)
|
rs1698067880
|
|
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
|
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1711del (p.Val571fs)
|
rs1574929097
|
|
NM_003042.4(SLC6A1):c.197del (p.Asn66fs)
|
rs1697197599
|
|
NM_003042.4(SLC6A1):c.222C>A (p.Cys74Ter)
|
rs139045747
|
|
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)
|
rs1064795852
|
|
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)
|
rs1085307804
|
|
NM_003042.4(SLC6A1):c.25del (p.Ala9fs)
|
rs1697186082
|
|
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=)
|
rs1697221045
|
|
NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)
|
|
|
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)
|
rs1559622516
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
|
|
|
NM_003042.4(SLC6A1):c.336dup (p.Leu113fs)
|
rs1697224249
|
|
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
|
|
|
NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser)
|
rs2124907082
|
|
NM_003042.4(SLC6A1):c.373G>A (p.Val125Met)
|
rs1574893965
|
|
NM_003042.4(SLC6A1):c.403_423del (p.Trp135_Ile141del)
|
rs2124908675
|
|
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter)
|
rs1697263091
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
|
rs1697264007
|
|
NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)
|
|
|
NM_003042.4(SLC6A1):c.449del (p.Tyr150fs)
|
rs2124908824
|
|
NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)
|
|
|
NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)
|
|
|
NM_003042.4(SLC6A1):c.502del (p.Trp168fs)
|
|
|
NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs)
|
rs1574897036
|
|
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
|
|
|
NM_003042.4(SLC6A1):c.566del (p.Val189fs)
|
rs2124912717
|
|
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)
|
rs1553688970
|
|
NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs)
|
rs2124917812
|
|
NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)
|
|
|
NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter)
|
rs1697443771
|
|
NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter)
|
rs1697444489
|
|
NM_003042.4(SLC6A1):c.714+2T>G
|
|
|
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter)
|
rs1559629701
|
|
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser)
|
rs1553689580
|
|
NM_003042.4(SLC6A1):c.850-1G>A
|
rs2124924932
|
|
NM_003042.4(SLC6A1):c.850-2A>G
|
rs1553689664
|
|
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)
|
rs2124924957
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
|
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter)
|
rs2124905063
|
|
NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)
|
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|