1 |
SIX1 |
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) |
SNV |
Pathogenic |
8308 |
rs104894478 |
14:61115522-61115522 |
14:60648804-60648804 |
2 |
SIX1 |
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) |
SNV |
Pathogenic |
8309 |
rs80356459 |
14:61115580-61115580 |
14:60648862-60648862 |
3 |
SIX1 |
NM_005982.4(SIX1):c.397_399del (p.Glu133del) |
deletion |
Pathogenic |
8310 |
rs80356460 |
14:61115509-61115511 |
14:60648791-60648793 |
4 |
SIX1 |
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) |
SNV |
Pathogenic |
8311 |
rs121909770 |
14:61115544-61115544 |
14:60648826-60648826 |
5 |
SIX1 |
NM_005982.4(SIX1):c.560+1G>C |
SNV |
Likely pathogenic |
189222 |
rs863223330 |
14:61115347-61115347 |
14:60648629-60648629 |
6 |
SIX1 |
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) |
SNV |
Likely pathogenic |
417916 |
rs1060499595 |
14:61115448-61115448 |
14:60648730-60648730 |
7 |
SIX1 |
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) |
SNV |
Conflicting interpretations of pathogenicity |
884094 |
|
14:61113110-61113110 |
14:60646392-60646392 |
8 |
SIX1 |
NM_005982.4(SIX1):c.330G>A (p.Arg110=) |
SNV |
Conflicting interpretations of pathogenicity |
497460 |
rs73309461 |
14:61115578-61115578 |
14:60648860-60648860 |
9 |
SIX1 |
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) |
SNV |
Conflicting interpretations of pathogenicity |
633689 |
rs144481204 |
14:61113177-61113177 |
14:60646459-60646459 |
10 |
SIX1 |
NM_005982.4(SIX1):c.*1251A>G |
SNV |
Uncertain significance |
882088 |
|
14:61111750-61111750 |
14:60645032-60645032 |
11 |
SIX1 |
NM_005982.4(SIX1):c.*1232T>C |
SNV |
Uncertain significance |
882089 |
|
14:61111769-61111769 |
14:60645051-60645051 |
12 |
SIX1 |
NM_005982.4(SIX1):c.*1080A>T |
SNV |
Uncertain significance |
882090 |
|
14:61111921-61111921 |
14:60645203-60645203 |
13 |
SIX1 |
NM_005982.4(SIX1):c.*858C>T |
SNV |
Uncertain significance |
883235 |
|
14:61112143-61112143 |
14:60645425-60645425 |
14 |
SIX1 |
NM_005982.4(SIX1):c.*766T>A |
SNV |
Uncertain significance |
884035 |
|
14:61112235-61112235 |
14:60645517-60645517 |
15 |
SIX1 |
NM_005982.4(SIX1):c.*688C>T |
SNV |
Uncertain significance |
880739 |
|
14:61112313-61112313 |
14:60645595-60645595 |
16 |
SIX1 |
NM_005982.4(SIX1):c.*266C>A |
SNV |
Uncertain significance |
883288 |
|
14:61112735-61112735 |
14:60646017-60646017 |
17 |
SIX1 |
NM_005982.4(SIX1):c.*249A>G |
SNV |
Uncertain significance |
883289 |
|
14:61112752-61112752 |
14:60646034-60646034 |
18 |
SIX1 |
NM_005982.4(SIX1):c.*140C>T |
SNV |
Uncertain significance |
883290 |
|
14:61112861-61112861 |
14:60646143-60646143 |
19 |
SIX1 |
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) |
SNV |
Uncertain significance |
884095 |
|
14:61113175-61113175 |
14:60646457-60646457 |
20 |
SIX1 |
NM_005982.4(SIX1):c.495C>T (p.Thr165=) |
SNV |
Uncertain significance |
880804 |
|
14:61115413-61115413 |
14:60648695-60648695 |
21 |
SIX1 |
NM_005982.4(SIX1):c.191G>A (p.Arg64His) |
SNV |
Uncertain significance |
444331 |
rs1051653507 |
14:61115717-61115717 |
14:60648999-60648999 |
22 |
SIX1 |
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) |
SNV |
Uncertain significance |
466173 |
rs540778343 |
14:61113212-61113212 |
14:60646494-60646494 |
23 |
SIX1 |
NM_005982.4(SIX1):c.*161C>A |
SNV |
Uncertain significance |
313463 |
rs886050571 |
14:61112840-61112840 |
14:60646122-60646122 |
24 |
SIX1 |
NM_005982.4(SIX1):c.*755T>G |
SNV |
Uncertain significance |
313452 |
rs868568764 |
14:61112246-61112246 |
14:60645528-60645528 |
25 |
SIX1 |
NM_005982.4(SIX1):c.-213C>G |
SNV |
Uncertain significance |
313474 |
rs771815597 |
14:61116120-61116120 |
14:60649402-60649402 |
26 |
SIX1 |
NM_005982.4(SIX1):c.-161G>C |
SNV |
Uncertain significance |
313471 |
rs886050573 |
14:61116068-61116068 |
14:60649350-60649350 |
27 |
SIX1 |
NM_005982.4(SIX1):c.-185T>C |
SNV |
Uncertain significance |
313473 |
rs745791461 |
14:61116092-61116092 |
14:60649374-60649374 |
28 |
SIX1 |
NM_005982.4(SIX1):c.*736T>G |
SNV |
Uncertain significance |
313453 |
rs768828257 |
14:61112265-61112265 |
14:60645547-60645547 |
29 |
SIX1 |
NM_005982.4(SIX1):c.822C>T (p.Pro274=) |
SNV |
Uncertain significance |
313464 |
rs368353344 |
14:61113034-61113034 |
14:60646316-60646316 |
30 |
SIX1 |
NM_005982.4(SIX1):c.-84C>G |
SNV |
Uncertain significance |
313468 |
rs886050572 |
14:61115991-61115991 |
14:60649273-60649273 |
31 |
SIX1 |
NM_005982.4(SIX1):c.*1001T>C |
SNV |
Uncertain significance |
313447 |
rs886050568 |
14:61112000-61112000 |
14:60645282-60645282 |
32 |
SIX1 |
NM_005982.4(SIX1):c.*371A>G |
SNV |
Uncertain significance |
313458 |
rs538935374 |
14:61112630-61112630 |
14:60645912-60645912 |
33 |
SIX1 |
NM_005982.4(SIX1):c.-213C>T |
SNV |
Uncertain significance |
884151 |
|
14:61116120-61116120 |
14:60649402-60649402 |
34 |
SIX1 |
NM_005982.4(SIX1):c.*767A>T |
SNV |
Likely benign |
313449 |
rs574976629 |
14:61112234-61112234 |
14:60645516-60645516 |
35 |
SIX1 |
NM_005982.4(SIX1):c.474C>T (p.Ala158=) |
SNV |
Likely benign |
466172 |
rs199743522 |
14:61115434-61115434 |
14:60648716-60648716 |
36 |
SIX1 |
NM_005982.4(SIX1):c.-24C>T |
SNV |
Benign/Likely benign |
882199 |
|
14:61115931-61115931 |
14:60649213-60649213 |
37 |
SIX1 |
NM_005982.4(SIX1):c.-14G>T |
SNV |
Benign/Likely benign |
313467 |
rs374228886 |
14:61115921-61115921 |
14:60649203-60649203 |
38 |
SIX1 |
NM_005982.4(SIX1):c.-137C>T |
SNV |
Benign/Likely benign |
313470 |
rs139621918 |
14:61116044-61116044 |
14:60649326-60649326 |
39 |
SIX1 |
NM_005982.4(SIX1):c.-184A>C |
SNV |
Benign/Likely benign |
313472 |
rs187402923 |
14:61116091-61116091 |
14:60649373-60649373 |
40 |
SIX1 |
NM_005982.4(SIX1):c.162G>A (p.Ala54=) |
SNV |
Benign/Likely benign |
227075 |
rs150550985 |
14:61115746-61115746 |
14:60649028-60649028 |
41 |
SIX1 |
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) |
SNV |
Benign/Likely benign |
313465 |
rs142301715 |
14:61113278-61113278 |
14:60646560-60646560 |
42 |
SIX1 |
NM_005982.4(SIX1):c.180C>G (p.Arg60=) |
SNV |
Benign/Likely benign |
313466 |
rs781519092 |
14:61115728-61115728 |
14:60649010-60649010 |
43 |
SIX1 |
NM_005982.4(SIX1):c.*443A>G |
SNV |
Benign/Likely benign |
313456 |
rs186530769 |
14:61112558-61112558 |
14:60645840-60645840 |
44 |
SIX1 |
NM_005982.4(SIX1):c.*1079T>A |
SNV |
Benign/Likely benign |
313444 |
rs559116477 |
14:61111922-61111922 |
14:60645204-60645204 |
45 |
SIX1 |
NM_005982.4(SIX1):c.*1044G>T |
SNV |
Benign/Likely benign |
313445 |
rs3742637 |
14:61111957-61111957 |
14:60645239-60645239 |
46 |
SIX1 |
NM_005982.4(SIX1):c.*334C>G |
SNV |
Benign |
313459 |
rs10144415 |
14:61112667-61112667 |
14:60645949-60645949 |
47 |
SIX1 |
NM_005982.4(SIX1):c.*297T>G |
SNV |
Benign |
313460 |
rs147081368 |
14:61112704-61112704 |
14:60645986-60645986 |
48 |
SIX1 |
NM_005982.4(SIX1):c.*1496C>T |
SNV |
Benign |
313442 |
rs61993831 |
14:61111505-61111505 |
14:60644787-60644787 |
49 |
SIX1 |
NM_005982.4(SIX1):c.-121C>G |
SNV |
Benign |
313469 |
rs375002099 |
14:61116028-61116028 |
14:60649310-60649310 |
50 |
SIX1 |
NM_005982.4(SIX1):c.*404A>G |
SNV |
Benign |
313457 |
rs76116881 |
14:61112597-61112597 |
14:60645879-60645879 |