NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000330.4(RS1):c.661A>G (p.Ser221Gly)
|
rs1339570385
|
0.00004
|
NM_000330.4(RS1):c.521G>A (p.Arg174Gln)
|
rs765547068
|
0.00003
|
NM_000330.4(RS1):c.184+3152G>A
|
rs745370971
|
0.00002
|
NM_000330.4(RS1):c.257C>T (p.Pro86Leu)
|
rs761385911
|
0.00002
|
NM_000330.4(RS1):c.320G>A (p.Gly107Asp)
|
rs143682861
|
0.00002
|
NM_000330.4(RS1):c.539C>T (p.Ser180Leu)
|
rs760857618
|
0.00002
|
NM_000330.4(RS1):c.184+3170G>A
|
rs764540699
|
0.00001
|
NM_000330.4(RS1):c.184+3173C>T
|
rs1018524335
|
0.00001
|
NM_000330.4(RS1):c.185-3090_185-3089insT
|
rs1158418673
|
0.00001
|
NM_000330.4(RS1):c.185-3146G>A
|
rs1398393336
|
0.00001
|
NM_000330.4(RS1):c.185-3170A>G
|
rs781435432
|
0.00001
|
NM_000330.4(RS1):c.185-3222C>T
|
rs760568446
|
0.00001
|
NM_000330.4(RS1):c.196C>G (p.His66Asp)
|
rs1244059097
|
0.00001
|
NM_000330.4(RS1):c.289A>C (p.Thr97Pro)
|
rs746374375
|
0.00001
|
NM_000330.4(RS1):c.326+1182C>T
|
rs369009993
|
0.00001
|
NM_000330.4(RS1):c.450G>C (p.Lys150Asn)
|
rs1342574819
|
0.00001
|
NM_000330.4(RS1):c.479G>A (p.Arg160His)
|
rs758816133
|
0.00001
|
NM_000330.4(RS1):c.572G>A (p.Arg191Gln)
|
rs1402116265
|
0.00001
|
NC_000023.10:g.(?_18442725)_(18672749_?)dup
|
|
|
NC_000023.10:g.(?_18525053)_(18665462_?)dup
|
|
|
NC_000023.10:g.(?_18525211)_(18671669_?)dup
|
|
|
NC_000023.10:g.(?_18660124)_(18660296_?)dup
|
|
|
NC_000023.10:g.(?_18668510)_(18668732_?)dup
|
|
|
NC_000023.10:g.(?_18671532)_(18671664_?)del
|
|
|
NC_000023.10:g.(?_18671532)_(18671664_?)dup
|
|
|
NC_000023.10:g.(?_18671542)_(18671664_?)del
|
|
|
NC_000023.11:g.(?_18564457)_(18653564_?)dup
|
|
|
NC_000023.11:g.(?_18653412)_(18653564_?)del
|
|
|
NM_000330.4(RS1):c.184+3136A>T
|
rs1928138947
|
|
NM_000330.4(RS1):c.184+3161T>C
|
|
|
NM_000330.4(RS1):c.184+3176T>C
|
rs2147201225
|
|
NM_000330.4(RS1):c.184+3203C>A
|
|
|
NM_000330.4(RS1):c.184+3221C>G
|
rs2147201137
|
|
NM_000330.4(RS1):c.184+3231A>C
|
rs1928132057
|
|
NM_000330.4(RS1):c.185-3087_185-3085del
|
|
|
NM_000330.4(RS1):c.185-3110G>C
|
rs200236257
|
|
NM_000330.4(RS1):c.185-3120G>A
|
|
|
NM_000330.4(RS1):c.185-3120G>T
|
|
|
NM_000330.4(RS1):c.185-3127del
|
rs1927981164
|
|
NM_000330.4(RS1):c.185-3128G>A
|
rs1927981327
|
|
NM_000330.4(RS1):c.185-3135C>T
|
|
|
NM_000330.4(RS1):c.185-3137C>T
|
|
|
NM_000330.4(RS1):c.185-3153A>T
|
rs2147197777
|
|
NM_000330.4(RS1):c.185-3159C>T
|
|
|
NM_000330.4(RS1):c.185-3165G>A
|
|
|
NM_000330.4(RS1):c.185-3167G>C
|
|
|
NM_000330.4(RS1):c.185-3201A>G
|
rs2147197846
|
|
NM_000330.4(RS1):c.185-3203A>T
|
|
|
NM_000330.4(RS1):c.185-3209T>C
|
|
|
NM_000330.4(RS1):c.185-3212G>A
|
rs1927986563
|
|
NM_000330.4(RS1):c.185-3261C>T
|
rs1927989790
|
|
NM_000330.4(RS1):c.185-3C>T
|
|
|
NM_000330.4(RS1):c.187T>C (p.Cys63Arg)
|
rs2147194234
|
|
NM_000330.4(RS1):c.233C>T (p.Pro78Leu)
|
|
|
NM_000330.4(RS1):c.247T>C (p.Cys83Arg)
|
rs1927820779
|
|
NM_000330.4(RS1):c.253_255del (p.Asn85del)
|
rs61750458
|
|
NM_000330.4(RS1):c.268G>C (p.Val90Leu)
|
|
|
NM_000330.4(RS1):c.272G>C (p.Gly91Ala)
|
rs373612815
|
|
NM_000330.4(RS1):c.278_280del (p.Tyr93del)
|
|
|
NM_000330.4(RS1):c.279TTC[1] (p.Ser95del)
|
|
|
NM_000330.4(RS1):c.302C>A (p.Ala101Asp)
|
rs2147193941
|
|
NM_000330.4(RS1):c.326+1095C>A
|
|
|
NM_000330.4(RS1):c.326+1103del
|
|
|
NM_000330.4(RS1):c.326+1106del
|
rs1927760301
|
|
NM_000330.4(RS1):c.326+1107G>A
|
rs2147192703
|
|
NM_000330.4(RS1):c.326+1123C>T
|
rs2147192682
|
|
NM_000330.4(RS1):c.326+1131_326+1132delinsTA
|
rs2147192668
|
|
NM_000330.4(RS1):c.326+1142G>A
|
|
|
NM_000330.4(RS1):c.326+1155G>A
|
|
|
NM_000330.4(RS1):c.326+1159_326+1160del
|
|
|
NM_000330.4(RS1):c.326+1179C>T
|
|
|
NM_000330.4(RS1):c.326+4A>C
|
|
|
NM_000330.4(RS1):c.326G>T (p.Gly109Val)
|
|
|
NM_000330.4(RS1):c.327-9_327-4del
|
rs2147191437
|
|
NM_000330.4(RS1):c.345G>C (p.Lys115Asn)
|
|
|
NM_000330.4(RS1):c.364T>C (p.Trp122Arg)
|
rs2147191370
|
|
NM_000330.4(RS1):c.374T>C (p.Ile125Thr)
|
rs199469695
|
|
NM_000330.4(RS1):c.376G>T (p.Asp126Tyr)
|
|
|
NM_000330.4(RS1):c.379C>A (p.Leu127Met)
|
rs1927703033
|
|
NM_000330.4(RS1):c.385_387del (p.Glu129del)
|
rs1927702371
|
|
NM_000330.4(RS1):c.389T>A (p.Ile130Asn)
|
|
|
NM_000330.4(RS1):c.409C>T (p.Leu137Phe)
|
rs1927700931
|
|
NM_000330.4(RS1):c.424T>G (p.Cys142Gly)
|
|
|
NM_000330.4(RS1):c.439T>C (p.Trp147Arg)
|
rs2147191229
|
|
NM_000330.4(RS1):c.457G>A (p.Val153Met)
|
|
|
NM_000330.4(RS1):c.467G>A (p.Arg156Lys)
|
rs2147191184
|
|
NM_000330.4(RS1):c.475G>A (p.Glu159Lys)
|
|
|
NM_000330.4(RS1):c.477G>C (p.Glu159Asp)
|
rs2147191161
|
|
NM_000330.4(RS1):c.479G>T (p.Arg160Leu)
|
|
|
NM_000330.4(RS1):c.508A>C (p.Thr170Pro)
|
rs2147191116
|
|
NM_000330.4(RS1):c.550T>C (p.Ser184Pro)
|
|
|
NM_000330.4(RS1):c.617G>C (p.Trp206Ser)
|
rs2147188942
|
|
NM_000330.4(RS1):c.621C>A (p.His207Gln)
|
|
|
NM_000330.4(RS1):c.629T>G (p.Ile210Ser)
|
|
|
NM_000330.4(RS1):c.654G>C (p.Glu218Asp)
|
rs2147188867
|
|