1 |
SPRED1 |
NM_152594.3(SPRED1):c.423+1G>A |
SNV |
Pathogenic
|
1811 |
rs1566868058 |
GRCh37: 15:38617011-38617011 GRCh38: 15:38324810-38324810 |
2 |
SPRED1 |
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) |
SNV |
Pathogenic
|
1812 |
rs121434314 |
GRCh37: 15:38641683-38641683 GRCh38: 15:38349482-38349482 |
3 |
SPRED1 |
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) |
SNV |
Pathogenic
|
1815 |
rs121434317 |
GRCh37: 15:38643314-38643314 GRCh38: 15:38351113-38351113 |
4 |
SPRED1 |
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) |
SNV |
Pathogenic
|
1816 |
rs121434318 |
GRCh37: 15:38591672-38591672 GRCh38: 15:38299471-38299471 |
5 |
SPRED1 |
NC_000015.10:g.(?_38299373)_(38357249_?)del |
DEL |
Pathogenic
|
417474 |
|
GRCh37: 15:38591574-38649450 GRCh38: 15:38299373-38357249 |
6 |
SPRED1 |
NM_152594.3(SPRED1):c.423+2T>C |
SNV |
Pathogenic
|
505193 |
rs1555391161 |
GRCh37: 15:38617012-38617012 GRCh38: 15:38324811-38324811 |
7 |
SPRED1 |
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) |
DEL |
Pathogenic
|
547789 |
rs1555386651 |
GRCh37: 15:38545392-38545405 GRCh38: 15:38253191-38253204 |
8 |
SPRED1 |
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) |
INDEL |
Pathogenic
|
565472 |
rs1566876929 |
GRCh37: 15:38643574-38643576 GRCh38: 15:38351373-38351375 |
9 |
overlap with 4 genes |
NC_000015.10:g.(?_38253166)_(39021201_?)del |
DEL |
Pathogenic
|
583432 |
|
GRCh37: 15:38545367-39313402 GRCh38: 15:38253166-39021201 |
10 |
SPRED1 |
NC_000015.10:g.(?_38253180)_(38351670_?)del |
DEL |
Pathogenic
|
584323 |
|
GRCh37: 15:38545381-38643871 GRCh38: 15:38253180-38351670 |
11 |
SPRED1 |
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) |
DUP |
Pathogenic
|
650362 |
rs1595746834 |
GRCh37: 15:38614539-38614540 GRCh38: 15:38322338-38322339 |
12 |
SPRED1 |
NC_000015.10:g.(?_38253186)_(38253227_?)del |
DEL |
Pathogenic
|
832303 |
|
GRCh37: 15:38545387-38545428 GRCh38: |
13 |
SPRED1 |
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) |
SNV |
Pathogenic
|
547791 |
rs1555389690 |
GRCh37: 15:38591644-38591644 GRCh38: 15:38299443-38299443 |
14 |
SPRED1 |
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
930640 |
rs1894017295 |
GRCh37: 15:38545387-38545387 GRCh38: 15:38253186-38253186 |
15 |
SPRED1 |
NC_000015.9:g.(?_38545367)_(38545438_?)del |
DEL |
Pathogenic
|
1073447 |
|
GRCh37: 15:38545367-38545438 GRCh38: |
16 |
SPRED1 |
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) |
SNV |
Pathogenic
|
592540 |
rs1566876895 |
GRCh37: 15:38643545-38643545 GRCh38: 15:38351344-38351344 |
17 |
SPRED1 |
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) |
SNV |
Pathogenic
|
1391856 |
|
GRCh37: 15:38643541-38643541 GRCh38: 15:38351340-38351340 |
18 |
SPRED1 |
NM_152594.3(SPRED1):c.305del (p.Thr102fs) |
DEL |
Pathogenic
|
1420112 |
|
GRCh37: 15:38614539-38614539 GRCh38: 15:38322338-38322338 |
19 |
SPRED1 |
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) |
DEL |
Pathogenic
|
1415230 |
|
GRCh37: 15:38643220-38643220 GRCh38: 15:38351019-38351019 |
20 |
SPRED1 |
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) |
DEL |
Pathogenic
|
1386579 |
|
GRCh37: 15:38591580-38591580 GRCh38: 15:38299379-38299379 |
21 |
SPRED1 |
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) |
SNV |
Pathogenic
|
409627 |
rs1060502505 |
GRCh37: 15:38617008-38617008 GRCh38: 15:38324807-38324807 |
22 |
SPRED1 |
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) |
DUP |
Pathogenic
|
943158 |
rs1895621783 |
GRCh37: 15:38614588-38614589 GRCh38: 15:38322387-38322388 |
23 |
SPRED1 |
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) |
SNV |
Pathogenic
|
960145 |
rs368660900 |
GRCh37: 15:38641659-38641659 GRCh38: 15:38349458-38349458 |
24 |
SPRED1 |
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) |
SNV |
Pathogenic
|
1072751 |
|
GRCh37: 15:38616972-38616972 GRCh38: 15:38324771-38324771 |
25 |
SPRED1 |
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) |
SNV |
Pathogenic
|
1813 |
rs121434315 |
GRCh37: 15:38591731-38591731 GRCh38: 15:38299530-38299530 |
26 |
SPRED1 |
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) |
MICROSAT |
Pathogenic
|
241989 |
rs878855228 |
GRCh37: 15:38643679-38643680 GRCh38: 15:38351478-38351479 |
27 |
SPRED1 |
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) |
MICROSAT |
Pathogenic
|
536687 |
rs1555391061 |
GRCh37: 15:38614574-38614575 GRCh38: 15:38322373-38322374 |
28 |
SPRED1 |
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) |
DUP |
Pathogenic
|
568389 |
rs1566868022 |
GRCh37: 15:38616967-38616968 GRCh38: 15:38324766-38324767 |
29 |
SPRED1 |
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) |
DUP |
Pathogenic
|
573472 |
rs1566867209 |
GRCh37: 15:38614462-38614463 GRCh38: 15:38322261-38322262 |
30 |
SPRED1 |
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) |
DEL |
Pathogenic
|
578285 |
rs1566867246 |
GRCh37: 15:38614533-38614539 GRCh38: 15:38322332-38322338 |
31 |
SPRED1 |
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) |
SNV |
Pathogenic
|
1451597 |
|
GRCh37: 15:38641653-38641653 GRCh38: 15:38349452-38349452 |
32 |
SPRED1 |
NC_000015.10:g.(?_38299363)_(38324819_?)del |
DEL |
Pathogenic
|
831554 |
|
GRCh37: 15:38591564-38617020 GRCh38: |
33 |
SPRED1 |
NM_152594.3(SPRED1):c.1273del (p.Met425fs) |
DEL |
Pathogenic
|
1693579 |
|
GRCh37: 15:38643802-38643802 GRCh38: 15:38351601-38351601 |
34 |
SPRED1 |
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) |
SNV |
Pathogenic
|
1814 |
rs121434316 |
GRCh37: 15:38641677-38641677 GRCh38: 15:38349476-38349476 |
35 |
SPRED1 |
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) |
MICROSAT |
Pathogenic
|
468788 |
rs1555392783 |
GRCh37: 15:38643625-38643628 GRCh38: 15:38351424-38351427 |
36 |
SPRED1 |
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) |
SNV |
Pathogenic
|
536686 |
rs1555392609 |
GRCh37: 15:38641716-38641716 GRCh38: 15:38349515-38349515 |
37 |
SPRED1 |
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) |
MICROSAT |
Pathogenic
|
468800 |
rs1555392759 |
GRCh37: 15:38643451-38643452 GRCh38: 15:38351250-38351251 |
38 |
SPRED1 |
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) |
SNV |
Pathogenic
|
520837 |
rs754706111 |
GRCh37: 15:38614539-38614539 GRCh38: 15:38322338-38322338 |
39 |
SPRED1 |
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) |
DEL |
Pathogenic
|
581681 |
rs1566876954 |
GRCh37: 15:38643580-38643580 GRCh38: 15:38351379-38351379 |
40 |
SPRED1 |
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) |
DUP |
Pathogenic
|
640306 |
rs1595763656 |
GRCh37: 15:38643429-38643430 GRCh38: 15:38351228-38351229 |
41 |
SPRED1 |
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) |
DEL |
Pathogenic
|
642469 |
rs1595763928 |
GRCh37: 15:38643681-38643681 GRCh38: 15:38351480-38351480 |
42 |
SPRED1 |
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) |
DEL |
Pathogenic
|
817884 |
rs1595763662 |
GRCh37: 15:38643432-38643435 GRCh38: 15:38351231-38351234 |
43 |
SPRED1 |
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) |
SNV |
Pathogenic
|
641432 |
rs1595763557 |
GRCh37: 15:38643330-38643330 GRCh38: 15:38351129-38351129 |
44 |
SPRED1 |
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) |
DUP |
Pathogenic
|
636663 |
rs1595746858 |
GRCh37: 15:38614558-38614559 GRCh38: 15:38322357-38322358 |
45 |
SPRED1 |
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) |
DUP |
Pathogenic
|
955012 |
rs1895110802 |
GRCh37: 15:38591712-38591713 GRCh38: 15:38299511-38299512 |
46 |
SPRED1 |
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) |
MICROSAT |
Pathogenic
|
636493 |
rs1595763659 |
GRCh37: 15:38643430-38643434 GRCh38: 15:38351229-38351233 |
47 |
SPRED1 |
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) |
DEL |
Pathogenic
|
1068652 |
|
GRCh37: 15:38643758-38643767 GRCh38: 15:38351557-38351566 |
48 |
SPRED1 |
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) |
DUP |
Pathogenic
|
1068945 |
|
GRCh37: 15:38643323-38643324 GRCh38: 15:38351122-38351123 |
49 |
SPRED1 |
NC_000015.9:g.(?_38591554)_(38591768_?)del |
DEL |
Pathogenic
|
1073310 |
|
GRCh37: 15:38591554-38591768 GRCh38: |
50 |
SPRED1 |
NC_000015.9:g.(?_38591568)_(38643870_?)del |
DEL |
Pathogenic
|
1073448 |
|
GRCh37: 15:38591568-38643870 GRCh38: |