1 |
RPIA |
NM_144563.3(RPIA):c.762del (p.Asn255fs) |
deletion |
Pathogenic |
13007 |
rs730880316 |
2:89037515-89037515 |
2:88737998-88737998 |
2 |
RPIA |
NM_144563.3(RPIA):c.404C>T (p.Ala135Val) |
SNV |
Pathogenic |
13008 |
rs121918591 |
2:89028797-89028797 |
2:88729279-88729279 |
3 |
RPIA |
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys) |
SNV |
Pathogenic |
635118 |
rs1558699183 |
2:89036082-89036082 |
2:88736565-88736565 |
4 |
RPIA |
NM_144563.3(RPIA):c.-17C>A |
SNV |
Uncertain significance |
897553 |
|
2:88991200-88991200 |
2:88691682-88691682 |
5 |
RPIA |
NM_144563.3(RPIA):c.493G>A (p.Val165Ile) |
SNV |
Uncertain significance |
337430 |
rs886056422 |
2:89034099-89034099 |
2:88734582-88734582 |
6 |
RPIA |
NM_144563.3(RPIA):c.596+5A>C |
SNV |
Uncertain significance |
337432 |
rs200342264 |
2:89035259-89035259 |
2:88735742-88735742 |
7 |
RPIA |
NM_144563.3(RPIA):c.*291del |
deletion |
Uncertain significance |
337439 |
rs113052379 |
2:89049875-89049875 |
2:88750358-88750358 |
8 |
RPIA |
NM_144563.3(RPIA):c.*712T>C |
SNV |
Uncertain significance |
337442 |
rs886056425 |
2:89050307-89050307 |
2:88750790-88750790 |
9 |
RPIA |
NM_144563.3(RPIA):c.*256C>T |
SNV |
Uncertain significance |
337438 |
rs574766296 |
2:89049851-89049851 |
2:88750334-88750334 |
10 |
RPIA |
NM_144563.3(RPIA):c.527+11T>C |
SNV |
Uncertain significance |
337431 |
rs777127840 |
2:89034144-89034144 |
2:88734627-88734627 |
11 |
RPIA |
NM_144563.3(RPIA):c.738+18del |
deletion |
Uncertain significance |
337435 |
rs750253754 |
2:89036209-89036209 |
2:88736692-88736692 |
12 |
RPIA |
NM_144563.3(RPIA):c.*15G>A |
SNV |
Uncertain significance |
337437 |
rs375899017 |
2:89049610-89049610 |
2:88750093-88750093 |
13 |
RPIA |
NM_144563.3(RPIA):c.*807C>G |
SNV |
Uncertain significance |
337443 |
rs886056426 |
2:89050402-89050402 |
2:88750885-88750885 |
14 |
RPIA |
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr) |
SNV |
Uncertain significance |
337428 |
rs756750653 |
2:88991271-88991271 |
2:88691753-88691753 |
15 |
RPIA |
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys) |
SNV |
Uncertain significance |
337429 |
rs372920523 |
2:88991434-88991434 |
2:88691916-88691916 |
16 |
RPIA |
NM_144563.3(RPIA):c.706G>A (p.Val236Met) |
SNV |
Uncertain significance |
337434 |
rs752477415 |
2:89036161-89036161 |
2:88736644-88736644 |
17 |
RPIA |
NM_144563.3(RPIA):c.*281A>G |
SNV |
Uncertain significance |
895737 |
|
2:89049876-89049876 |
2:88750359-88750359 |
18 |
RPIA |
NM_144563.3(RPIA):c.*558G>A |
SNV |
Uncertain significance |
896016 |
|
2:89050153-89050153 |
2:88750636-88750636 |
19 |
RPIA |
NM_144563.3(RPIA):c.*591G>T |
SNV |
Uncertain significance |
896017 |
|
2:89050186-89050186 |
2:88750669-88750669 |
20 |
RPIA |
NM_144563.3(RPIA):c.*635A>G |
SNV |
Uncertain significance |
896018 |
|
2:89050230-89050230 |
2:88750713-88750713 |
21 |
RPIA |
NM_144563.3(RPIA):c.*728T>C |
SNV |
Uncertain significance |
896019 |
|
2:89050323-89050323 |
2:88750806-88750806 |
22 |
RPIA |
NM_144563.3(RPIA):c.*783A>G |
SNV |
Uncertain significance |
896020 |
|
2:89050378-89050378 |
2:88750861-88750861 |
23 |
RPIA |
NM_144563.3(RPIA):c.57C>T (p.Pro19=) |
SNV |
Uncertain significance |
897555 |
|
2:88991273-88991273 |
2:88691755-88691755 |
24 |
RPIA |
NM_144563.3(RPIA):c.177C>T (p.Ser59=) |
SNV |
Uncertain significance |
897556 |
|
2:88991393-88991393 |
2:88691875-88691875 |
25 |
RPIA |
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly) |
SNV |
Uncertain significance |
898708 |
|
2:89028836-89028836 |
2:88729318-88729318 |
26 |
RPIA |
NM_144563.3(RPIA):c.789C>T (p.Asp263=) |
SNV |
Uncertain significance |
898709 |
|
2:89037544-89037544 |
2:88738027-88738027 |
27 |
RPIA |
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp) |
SNV |
Uncertain significance |
898710 |
|
2:89037545-89037545 |
2:88738028-88738028 |
28 |
RPIA |
NM_144563.3(RPIA):c.*29T>G |
SNV |
Uncertain significance |
895734 |
|
2:89049624-89049624 |
2:88750107-88750107 |
29 |
RPIA |
NM_144563.3(RPIA):c.*134A>C |
SNV |
Uncertain significance |
895735 |
|
2:89049729-89049729 |
2:88750212-88750212 |
30 |
RPIA |
NM_144563.3(RPIA):c.*241A>G |
SNV |
Likely benign |
895736 |
|
2:89049836-89049836 |
2:88750319-88750319 |
31 |
RPIA |
NM_144563.3(RPIA):c.*599_*601GTT[1] |
short repeat |
Likely benign |
337441 |
rs371885783 |
2:89050193-89050195 |
2:88750676-88750678 |
32 |
RPIA |
NM_144563.3(RPIA):c.*531T>G |
SNV |
Benign |
337440 |
rs6974 |
2:89050126-89050126 |
2:88750609-88750609 |
33 |
RPIA |
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg) |
SNV |
Benign |
897554 |
|
2:88991221-88991221 |
2:88691703-88691703 |
34 |
RPIA |
NM_144563.3(RPIA):c.633G>A (p.Lys211=) |
SNV |
Benign |
337433 |
rs72930711 |
2:89036088-89036088 |
2:88736571-88736571 |
35 |
RPIA |
NM_144563.3(RPIA):c.858A>G (p.Leu286=) |
SNV |
Benign |
337436 |
rs142341148 |
2:89049517-89049517 |
2:88750000-88750000 |