1 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) |
SNV |
Pathogenic |
565 |
rs121912584 |
10:73122246-73122246 |
10:71362489-71362489 |
2 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) |
Deletion |
Pathogenic |
566 |
rs869025176 |
10:73121978-73121978 |
10:71362221-71362221 |
3 |
SLC29A3 |
NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) |
Deletion |
Pathogenic |
567 |
rs869025177 |
10:73121877-73121877 |
10:71362120-71362120 |
4 |
SLC29A3 |
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) |
SNV |
Pathogenic |
568 |
rs267607057 |
10:73104012-73104012 |
10:71344255-71344255 |
5 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) |
SNV |
Pathogenic |
569 |
rs267607058 |
10:73122283-73122283 |
10:71362526-71362526 |
6 |
SLC29A3 |
SLC29A3, IVS2, G-A, +1 |
SNV |
Pathogenic |
30946 |
|
|
|
7 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) |
SNV |
Pathogenic |
30948 |
rs387907066 |
10:73122025-73122025 |
10:71362268-71362268 |
8 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) |
SNV |
Pathogenic |
30949 |
rs387907067 |
10:73122024-73122024 |
10:71362267-71362267 |
9 |
SLC29A3 |
NM_018344.6(SLC29A3):c.243del (p.Lys81fs) |
Deletion |
Pathogenic |
636986 |
rs1589220231 |
10:73082752-73082752 |
10:71322995-71322995 |
10 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) |
SNV |
Pathogenic |
39870 |
rs397515429 |
10:73122094-73122094 |
10:71362337-71362337 |
11 |
SLC29A3 |
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) |
SNV |
Pathogenic |
39871 |
rs397514626 |
10:73111542-73111542 |
10:71351785-71351785 |
12 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) |
SNV |
Pathogenic |
130338 |
rs587780462 |
10:73122165-73122165 |
10:71362408-71362408 |
13 |
SLC29A3 |
NM_018344.6(SLC29A3):c.300+1G>A |
SNV |
Pathogenic |
130339 |
rs587780463 |
10:73082812-73082812 |
10:71323055-71323055 |
14 |
SLC29A3 |
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) |
SNV |
Pathogenic |
212200 |
rs746408350 |
10:73082584-73082584 |
10:71322827-71322827 |
15 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) |
SNV |
Pathogenic |
563 |
rs121912583 |
10:73122216-73122216 |
10:71362459-71362459 |
16 |
SLC29A3 |
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) |
SNV |
Pathogenic |
573984 |
rs776960135 |
10:73111414-73111414 |
10:71351657-71351657 |
17 |
SLC29A3 |
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) |
SNV |
Pathogenic |
862781 |
|
10:73082650-73082650 |
10:71322893-71322893 |
18 |
SLC29A3 |
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) |
Deletion |
Pathogenic |
915355 |
|
10:73082629-73082629 |
10:71322872-71322872 |
19 |
SLC29A3 |
NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) |
Deletion |
Pathogenic |
30947 |
rs796052139 |
10:73103972-73103973 |
10:71344215-71344216 |
20 |
SLC29A3 |
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) |
SNV |
Likely pathogenic |
963811 |
|
10:73121908-73121908 |
10:71362151-71362151 |
21 |
SLC29A3 |
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) |
Deletion |
Likely pathogenic |
664261 |
rs1415833135 |
10:73121920-73121920 |
10:71362163-71362163 |
22 |
SLC29A3 |
NM_018344.6(SLC29A3):c.611-1G>T |
SNV |
Likely pathogenic |
659679 |
rs139857136 |
10:73115837-73115837 |
10:71356080-71356080 |
23 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) |
SNV |
Likely pathogenic |
564 |
rs267607056 |
10:73122267-73122267 |
10:71362510-71362510 |
24 |
SLC29A3 |
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) |
SNV |
Conflicting interpretations of pathogenicity |
300365 |
rs566110994 |
10:73121792-73121792 |
10:71362035-71362035 |
25 |
SLC29A3 |
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) |
SNV |
Conflicting interpretations of pathogenicity |
709157 |
rs147814367 |
10:73121924-73121924 |
10:71362167-71362167 |
26 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) |
SNV |
Conflicting interpretations of pathogenicity |
795626 |
rs373404056 |
10:73122284-73122284 |
10:71362527-71362527 |
27 |
SLC29A3 |
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile) |
Inversion |
Conflicting interpretations of pathogenicity |
300363 |
|
10:73115941-73115942 |
10:71356184-71356185 |
28 |
SLC29A3 |
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) |
SNV |
Uncertain significance |
595707 |
rs772599816 |
10:73104030-73104030 |
10:71344273-71344273 |
29 |
SLC29A3 |
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) |
SNV |
Uncertain significance |
287017 |
rs138640615 |
10:73103990-73103990 |
10:71344233-71344233 |
30 |
SLC29A3 |
NM_018344.6(SLC29A3):c.225G>A (p.Lys75=) |
SNV |
Uncertain significance |
967525 |
|
10:73082736-73082736 |
10:71322979-71322979 |
31 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) |
SNV |
Uncertain significance |
967893 |
|
10:73122070-73122070 |
10:71362313-71362313 |
32 |
SLC29A3 |
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) |
SNV |
Uncertain significance |
969066 |
|
10:73121811-73121811 |
10:71362054-71362054 |
33 |
SLC29A3 |
NM_018344.6(SLC29A3):c.18G>A (p.Glu6=) |
SNV |
Uncertain significance |
972053 |
|
10:73082529-73082529 |
10:71322772-71322772 |
34 |
SLC29A3 |
NM_018344.6(SLC29A3):c.804T>C (p.His268=) |
SNV |
Uncertain significance |
750645 |
rs896755457 |
10:73121741-73121741 |
10:71361984-71361984 |
35 |
SLC29A3 |
NM_018344.6(SLC29A3):c.*744G>A |
SNV |
Uncertain significance |
877281 |
|
10:73123109-73123109 |
10:71363352-71363352 |
36 |
SLC29A3 |
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) |
SNV |
Uncertain significance |
878196 |
|
10:73082649-73082649 |
10:71322892-71322892 |
37 |
SLC29A3 |
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=) |
SNV |
Uncertain significance |
878197 |
|
10:73082730-73082730 |
10:71322973-71322973 |
38 |
SLC29A3 |
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) |
Duplication |
Uncertain significance |
934211 |
|
10:73103967-73103968 |
10:71344210-71344211 |
39 |
SLC29A3 |
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) |
SNV |
Uncertain significance |
937842 |
|
10:73082570-73082570 |
10:71322813-71322813 |
40 |
SLC29A3 |
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) |
SNV |
Uncertain significance |
938915 |
|
10:73082627-73082627 |
10:71322870-71322870 |
41 |
SLC29A3 |
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) |
SNV |
Uncertain significance |
940035 |
|
10:73082656-73082656 |
10:71322899-71322899 |
42 |
SLC29A3 |
NM_018344.6(SLC29A3):c.300+5G>A |
SNV |
Uncertain significance |
943971 |
|
10:73082816-73082816 |
10:71323059-71323059 |
43 |
SLC29A3 |
NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val) |
SNV |
Uncertain significance |
950014 |
|
10:73115997-73115997 |
10:71356240-71356240 |
44 |
SLC29A3 |
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) |
SNV |
Uncertain significance |
953136 |
|
10:73111540-73111540 |
10:71351783-71351783 |
45 |
SLC29A3 |
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) |
SNV |
Uncertain significance |
878860 |
|
10:73121954-73121954 |
10:71362197-71362197 |
46 |
SLC29A3 |
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) |
SNV |
Uncertain significance |
880015 |
|
10:73111465-73111465 |
10:71351708-71351708 |
47 |
SLC29A3 |
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) |
SNV |
Uncertain significance |
880016 |
|
10:73115851-73115851 |
10:71356094-71356094 |
48 |
SLC29A3 |
NM_018344.6(SLC29A3):c.*111A>G |
SNV |
Uncertain significance |
880067 |
|
10:73122476-73122476 |
10:71362719-71362719 |
49 |
SLC29A3 |
NM_018344.6(SLC29A3):c.*220A>G |
SNV |
Uncertain significance |
880068 |
|
10:73122585-73122585 |
10:71362828-71362828 |
50 |
SLC29A3 |
NM_018344.6(SLC29A3):c.*321C>G |
SNV |
Uncertain significance |
880069 |
|
10:73122686-73122686 |
10:71362929-71362929 |