1 |
SNTA1 |
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) |
SNV |
Pathogenic
|
8476 |
rs121434500 |
GRCh37: 20:31998009-31998009 GRCh38: 20:33410203-33410203 |
2 |
SNTA1 |
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
263476 |
rs572545726 |
GRCh37: 20:32031206-32031206 GRCh38: 20:33443400-33443400 |
3 |
SNTA1 |
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
191548 |
rs56157422 |
GRCh37: 20:32000520-32000520 GRCh38: 20:33412714-33412714 |
4 |
SNTA1 |
NM_003098.3(SNTA1):c.1479C>T (p.Phe493=) |
SNV |
Uncertain Significance
|
338211 |
rs559827815 |
GRCh37: 20:31996352-31996352 GRCh38: 20:33408546-33408546 |
5 |
SNTA1 |
NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr) |
SNV |
Uncertain Significance
|
338220 |
rs886056627 |
GRCh37: 20:32031150-32031150 GRCh38: 20:33443344-33443344 |
6 |
SNTA1 |
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) |
SNV |
Uncertain Significance
|
190934 |
rs786205848 |
GRCh37: 20:32031267-32031267 GRCh38: 20:33443461-33443461 |
7 |
SNTA1 |
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) |
SNV |
Uncertain Significance
|
264021 |
rs886039012 |
GRCh37: 20:32031402-32031402 GRCh38: 20:33443596-33443596 |
8 |
SNTA1 |
NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys) |
SNV |
Uncertain Significance
|
809246 |
rs375515058 |
GRCh37: 20:31996677-31996677 GRCh38: 20:33408871-33408871 |
9 |
SNTA1 |
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) |
SNV |
Uncertain Significance
|
496194 |
rs963277918 |
GRCh37: 20:32031326-32031326 GRCh38: 20:33443520-33443520 |
10 |
SNTA1 |
NM_003098.3(SNTA1):c.459G>T (p.Gln153His) |
SNV |
Uncertain Significance
|
811698 |
rs1471172997 |
GRCh37: 20:32026684-32026684 GRCh38: 20:33438878-33438878 |
11 |
SNTA1 |
NM_003098.3(SNTA1):c.115G>A (p.Val39Met) |
SNV |
Uncertain Significance
|
894981 |
rs755986911 |
GRCh37: 20:32031312-32031312 GRCh38: 20:33443506-33443506 |
12 |
SNTA1 |
NM_003098.3(SNTA1):c.992G>A (p.Arg331His) |
SNV |
Uncertain Significance
|
190917 |
rs575431717 |
GRCh37: 20:32000150-32000150 GRCh38: 20:33412344-33412344 |
13 |
SNTA1 |
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) |
SNV |
Uncertain Significance
|
897983 |
rs750459988 |
GRCh37: 20:32000473-32000473 GRCh38: 20:33412667-33412667 |
14 |
SNTA1 |
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) |
SNV |
Uncertain Significance
|
190914 |
rs150576530 |
GRCh37: 20:32000503-32000503 GRCh38: 20:33412697-33412697 |
15 |
SNTA1 |
NM_003098.2(SNTA1):c.-186C>T |
SNV |
Uncertain Significance
|
338224 |
rs886056629 |
GRCh37: 20:32031612-32031612 GRCh38: 20:33443806-33443806 |
16 |
SNTA1 |
NM_003098.2(SNTA1):c.-262C>T |
SNV |
Uncertain Significance
|
338229 |
rs550104436 |
GRCh37: 20:32031688-32031688 GRCh38: 20:33443882-33443882 |
17 |
SNTA1 |
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) |
SNV |
Uncertain Significance
|
264348 |
rs771180054 |
GRCh37: 20:32005606-32005606 GRCh38: 20:33417800-33417800 |
18 |
SNTA1 |
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) |
SNV |
Uncertain Significance
|
263623 |
rs144860423 |
GRCh37: 20:32005660-32005660 GRCh38: 20:33417854-33417854 |
19 |
SNTA1 |
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) |
SNV |
Uncertain Significance
|
188145 |
rs370531842 |
GRCh37: 20:31996389-31996389 GRCh38: 20:33408583-33408583 |
20 |
SNTA1 |
NM_003098.3(SNTA1):c.312C>A (p.Gly104=) |
SNV |
Uncertain Significance
|
894980 |
rs533476140 |
GRCh37: 20:32026831-32026831 GRCh38: 20:33439025-33439025 |
21 |
SNTA1 |
NM_003098.3(SNTA1):c.210G>C (p.Pro70=) |
SNV |
Uncertain Significance
|
378629 |
rs751651742 |
GRCh37: 20:32031217-32031217 GRCh38: 20:33443411-33443411 |
22 |
SNTA1 |
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) |
SNV |
Uncertain Significance
|
203366 |
rs373387978 |
GRCh37: 20:31997974-31997974 GRCh38: 20:33410168-33410168 |
23 |
SNTA1 |
NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) |
SNV |
Uncertain Significance
|
338218 |
rs775580363 |
GRCh37: 20:32005712-32005712 GRCh38: 20:33417906-33417906 |
24 |
SNTA1 |
NM_003098.2(SNTA1):c.-261C>A |
SNV |
Uncertain Significance
|
338228 |
rs536994978 |
GRCh37: 20:32031687-32031687 GRCh38: 20:33443881-33443881 |
25 |
SNTA1 |
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) |
SNV |
Uncertain Significance
|
338213 |
rs771369802 |
GRCh37: 20:31997973-31997973 GRCh38: 20:33410167-33410167 |
26 |
SNTA1 |
NM_003098.3(SNTA1):c.1238-13G>C |
SNV |
Uncertain Significance
|
338212 |
rs748801869 |
GRCh37: 20:31996707-31996707 GRCh38: 20:33408901-33408901 |
27 |
SNTA1 |
NM_003098.3(SNTA1):c.*6G>A |
SNV |
Uncertain Significance
|
338210 |
rs565582070 |
GRCh37: 20:31996307-31996307 GRCh38: 20:33408501-33408501 |
28 |
SNTA1 |
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) |
SNV |
Uncertain Significance
|
190903 |
rs786205841 |
GRCh37: 20:32031299-32031299 GRCh38: 20:33443493-33443493 |
29 |
SNTA1 |
NM_003098.3(SNTA1):c.375G>C (p.Gln125His) |
SNV |
Uncertain Significance
|
191512 |
rs201421292 |
GRCh37: 20:32026768-32026768 GRCh38: 20:33438962-33438962 |
30 |
SNTA1 |
NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) |
SNV |
Uncertain Significance
|
190927 |
rs768377696 |
GRCh37: 20:31996327-31996327 GRCh38: 20:33408521-33408521 |
31 |
SNTA1 |
NM_003098.3(SNTA1):c.1238-14T>C |
SNV |
Uncertain Significance
|
896365 |
rs369876616 |
GRCh37: 20:31996708-31996708 GRCh38: 20:33408902-33408902 |
32 |
SNTA1 |
NM_003098.3(SNTA1):c.651G>A (p.Leu217=) |
SNV |
Uncertain Significance
|
338217 |
rs886056626 |
GRCh37: 20:32005575-32005575 GRCh38: 20:33417769-33417769 |
33 |
SNTA1 |
NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) |
SNV |
Uncertain Significance
|
190921 |
rs751302839 |
GRCh37: 20:31996676-31996676 GRCh38: 20:33408870-33408870 |
34 |
SNTA1 |
NM_003098.3(SNTA1):c.1181G>A (p.Arg394His) |
SNV |
Uncertain Significance
|
338214 |
rs750278583 |
GRCh37: 20:31997997-31997997 GRCh38: 20:33410191-33410191 |
35 |
SNTA1 |
NM_003098.3(SNTA1):c.-18G>A |
SNV |
Uncertain Significance
|
338221 |
rs886056628 |
GRCh37: 20:32031444-32031444 GRCh38: 20:33443638-33443638 |
36 |
SNTA1 |
NM_003098.3(SNTA1):c.*79C>A |
SNV |
Uncertain Significance
|
338209 |
rs78892511 |
GRCh37: 20:31996234-31996234 GRCh38: 20:33408428-33408428 |
37 |
SNTA1 |
NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) |
SNV |
Uncertain Significance
|
338215 |
rs754648214 |
GRCh37: 20:31998060-31998060 GRCh38: 20:33410254-33410254 |
38 |
SNTA1 |
NM_003098.3(SNTA1):c.-96G>C |
SNV |
Uncertain Significance
|
338222 |
rs145471317 |
GRCh37: 20:32031522-32031522 GRCh38: 20:33443716-33443716 |
39 |
SNTA1 |
NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser) |
SNV |
Uncertain Significance
|
431380 |
rs1135401951 |
GRCh37: 20:32031233-32031233 GRCh38: 20:33443427-33443427 |
40 |
SNTA1 |
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) |
SNV |
Uncertain Significance
|
560703 |
rs1187536758 |
GRCh37: 20:31996593-31996593 GRCh38: 20:33408787-33408787 |
41 |
SNTA1 |
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) |
SNV |
Uncertain Significance
|
190909 |
rs781703999 |
GRCh37: 20:32005700-32005700 GRCh38: 20:33417894-33417894 |
42 |
SNTA1 |
NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg) |
SNV |
Uncertain Significance
|
896366 |
rs1989758393 |
GRCh37: 20:32000117-32000117 GRCh38: 20:33412311-33412311 |
43 |
SNTA1 |
NM_003098.3(SNTA1):c.-42G>A |
SNV |
Uncertain Significance
|
896422 |
rs921708182 |
GRCh37: 20:32031468-32031468 GRCh38: 20:33443662-33443662 |
44 |
SNTA1 |
NM_003098.3(SNTA1):c.-62C>T |
SNV |
Uncertain Significance
|
896423 |
rs1990639431 |
GRCh37: 20:32031488-32031488 GRCh38: 20:33443682-33443682 |
45 |
SNTA1 |
NM_003098.3(SNTA1):c.-70C>A |
SNV |
Uncertain Significance
|
896424 |
rs930437100 |
GRCh37: 20:32031496-32031496 GRCh38: 20:33443690-33443690 |
46 |
SNTA1 |
NM_003098.3(SNTA1):c.816G>T (p.Thr272=) |
SNV |
Uncertain Significance
|
897984 |
rs371028127 |
GRCh37: 20:32000474-32000474 GRCh38: 20:33412668-33412668 |
47 |
SNTA1 |
NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg) |
SNV |
Uncertain Significance
|
897985 |
rs1989777102 |
GRCh37: 20:32000550-32000550 GRCh38: 20:33412744-33412744 |
48 |
SNTA1 |
NM_003098.3(SNTA1):c.*412G>C |
SNV |
Uncertain Significance
|
899048 |
rs566401281 |
GRCh37: 20:31995901-31995901 GRCh38: 20:33408095-33408095 |
49 |
SNTA1 |
NM_003098.3(SNTA1):c.*333G>A |
SNV |
Uncertain Significance
|
899049 |
rs1222182431 |
GRCh37: 20:31995980-31995980 GRCh38: 20:33408174-33408174 |
50 |
SNTA1 |
NM_003098.3(SNTA1):c.*231C>T |
SNV |
Uncertain Significance
|
899050 |
rs187657721 |
GRCh37: 20:31996082-31996082 GRCh38: 20:33408276-33408276 |