NM_004859.4(CLTC):c.2293-26T>C
|
rs8065248
|
0.88365
|
NM_004859.4(CLTC):c.519+16T>G
|
rs8071749
|
0.85772
|
NM_004859.4(CLTC):c.2797-9C>T
|
rs148657971
|
0.00940
|
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val)
|
rs143886947
|
0.00013
|
NM_004859.4(CLTC):c.1133C>T (p.Ser378Leu)
|
rs771278812
|
0.00001
|
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys)
|
rs954500638
|
0.00001
|
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile)
|
rs373696281
|
0.00001
|
NM_004859.4(CLTC):c.4904-4G>A
|
rs755404780
|
0.00001
|
NC_000017.11:g.59664787del
|
rs1598226304
|
|
NM_004859.4(CLTC):c.1013T>C (p.Ile338Thr)
|
rs2143540713
|
|
NM_004859.4(CLTC):c.111del (p.Phe37fs)
|
rs2143496899
|
|
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala)
|
rs1598223846
|
|
NM_004859.4(CLTC):c.118A>G (p.Ile40Val)
|
|
|
NM_004859.4(CLTC):c.1196G>A (p.Arg399His)
|
|
|
NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu)
|
|
|
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu)
|
rs2032692372
|
|
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
|
|
|
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
|
|
|
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs)
|
rs2032737696
|
|
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)
|
rs1598211790
|
|
NM_004859.4(CLTC):c.1898T>A (p.Leu633Ter)
|
|
|
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
|
|
|
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val)
|
rs2143556646
|
|
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
|
|
|
NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser)
|
rs771059610
|
|
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del)
|
rs1598233581
|
|
NM_004859.4(CLTC):c.2438del (p.Pro813fs)
|
|
|
NM_004859.4(CLTC):c.2517A>G (p.Gln839=)
|
rs2143575574
|
|
NM_004859.4(CLTC):c.2562-1G>C
|
|
|
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer)
|
rs2143580660
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs)
|
rs797044884
|
|
NM_004859.4(CLTC):c.2827_2828del (p.Leu943fs)
|
rs2033035924
|
|
NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro)
|
|
|
NM_004859.4(CLTC):c.3137G>A (p.Arg1046His)
|
rs1376342815
|
|
NM_004859.4(CLTC):c.3140T>C (p.Leu1047Pro)
|
rs1555607159
|
|
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)
|
rs2143591718
|
|
NM_004859.4(CLTC):c.3249+1G>C
|
|
|
NM_004859.4(CLTC):c.3266T>C (p.Ile1089Thr)
|
rs199715555
|
|
NM_004859.4(CLTC):c.3339dup (p.Ala1114fs)
|
|
|
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser)
|
rs1443421262
|
|
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter)
|
rs2143593640
|
|
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
|
|
|
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
|
|
|
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
|
|
|
NM_004859.4(CLTC):c.3765+1G>A
|
rs2143594831
|
|
NM_004859.4(CLTC):c.3766-13_3766-5del
|
rs2143595030
|
|
NM_004859.4(CLTC):c.3779G>A (p.Cys1260Tyr)
|
|
|
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
|
|
|
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
|
|
|
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter)
|
rs1555607682
|
|
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)
|
rs367867382
|
|
NM_004859.4(CLTC):c.681+2dup
|
rs1598214612
|
|
NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)
|
|
|
NM_004859.4(CLTC):c.977_980del (p.Ser326fs)
|
rs1555604778
|
|