1 |
KCND3 |
NM_004980.4(KCND3):c.1013T>A (p.Val338Glu) |
SNV |
Pathogenic |
626317 |
|
1:112524336-112524336 |
1:111981714-111981714 |
2 |
KCND3 |
NM_004980.4(KCND3):c.950G>A (p.Cys317Tyr) |
SNV |
Pathogenic |
626316 |
|
1:112524399-112524399 |
1:111981777-111981777 |
3 |
KCND3 |
NM_004980.4(KCND3):c.1130C>T (p.Thr377Met) |
SNV |
Pathogenic |
626319 |
|
1:112329705-112329705 |
1:111787083-111787083 |
4 |
KCND3 |
NM_004980.4(KCND3):c.1123C>T (p.Pro375Ser) |
SNV |
Pathogenic |
626318 |
|
1:112329712-112329712 |
1:111787090-111787090 |
5 |
KCND3 |
NM_172198.2(KCND3):c.677_679TCT[1] (p.Phe227del) |
short repeat |
Pathogenic |
66061 |
rs397515475 |
1:112524667-112524669 |
1:111982045-111982047 |
6 |
KCND3 |
NM_004980.4(KCND3):c.1054A>C (p.Thr352Pro) |
SNV |
Pathogenic |
66062 |
rs397515476 |
1:112524295-112524295 |
1:111981673-111981673 |
7 |
KCND3 |
NM_004980.4(KCND3):c.1034G>T (p.Gly345Val) |
SNV |
Pathogenic |
211216 |
rs797045634 |
1:112524315-112524315 |
1:111981693-111981693 |
8 |
KCND3 |
NM_004980.4(KCND3):c.1153T>C (p.Ser385Pro) |
SNV |
Pathogenic |
375399 |
rs1057519453 |
1:112329682-112329682 |
1:111787060-111787060 |
9 |
KCND3 |
NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) |
SNV |
Pathogenic/Likely pathogenic |
383943 |
rs1057521793 |
1:112329724-112329724 |
1:111787102-111787102 |
10 |
KCND3 |
NC_000001.11:g.111981657G>A |
SNV |
Likely pathogenic |
827788 |
|
1:112524279-112524279 |
1:111981657-111981657 |
11 |
KCND3 |
NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) |
SNV |
Conflicting interpretations of pathogenicity |
222665 |
rs142744204 |
1:112524708-112524708 |
1:111982086-111982086 |
12 |
KCND3 |
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) |
SNV |
Conflicting interpretations of pathogenicity |
372391 |
rs201340369 |
1:112525344-112525344 |
1:111982722-111982722 |
13 |
KCND3 |
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) |
SNV |
Conflicting interpretations of pathogenicity |
192253 |
rs150401343 |
1:112323335-112323335 |
1:111780713-111780713 |
14 |
KCND3 |
NM_004980.4(KCND3):c.1174G>A (p.Val392Ile) |
SNV |
Conflicting interpretations of pathogenicity |
192255 |
rs786205867 |
1:112329661-112329661 |
1:111787039-111787039 |
15 |
KCND3 |
NM_004980.4(KCND3):c.1456A>G (p.Thr486Ala) |
SNV |
Conflicting interpretations of pathogenicity |
415286 |
rs149008060 |
1:112322852-112322852 |
1:111780230-111780230 |
16 |
KCND3 |
NM_004980.4(KCND3):c.1354G>A (p.Glu452Lys) |
SNV |
Conflicting interpretations of pathogenicity |
447626 |
rs200532657 |
1:112323329-112323329 |
1:111780707-111780707 |
17 |
LAMA4 |
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) |
SNV |
Conflicting interpretations of pathogenicity |
488160 |
rs547323858 |
6:112454047-112454047 |
6:112132845-112132845 |
18 |
KCND3 |
NM_004980.4(KCND3):c.1313C>G (p.Ser438Trp) |
SNV |
Uncertain significance |
465164 |
rs1172444288 |
1:112323370-112323370 |
1:111780748-111780748 |
19 |
KCND3 |
NM_004980.4(KCND3):c.1756C>G (p.Leu586Val) |
SNV |
Uncertain significance |
519297 |
rs778053688 |
1:112319658-112319658 |
1:111777036-111777036 |
20 |
KCND3 |
NM_004980.4(KCND3):c.1924A>T (p.Ile642Phe) |
SNV |
Uncertain significance |
533724 |
rs754759010 |
1:112318743-112318743 |
1:111776121-111776121 |
21 |
KCND3 |
NM_004980.4(KCND3):c.1518+4T>C |
SNV |
Uncertain significance |
533726 |
rs1553235925 |
1:112321054-112321054 |
1:111778432-111778432 |
22 |
KCND3 |
NM_004980.4(KCND3):c.1336C>T (p.Arg446Cys) |
SNV |
Uncertain significance |
533725 |
rs756087542 |
1:112323347-112323347 |
1:111780725-111780725 |
23 |
KCND3 |
NM_004980.4(KCND3):c.1703G>A (p.Arg568His) |
SNV |
Uncertain significance |
533722 |
rs200212002 |
1:112319711-112319711 |
1:111777089-111777089 |
24 |
KCND3 |
NM_004980.4(KCND3):c.1601C>T (p.Pro534Leu) |
SNV |
Uncertain significance |
465166 |
rs1553235768 |
1:112319813-112319813 |
1:111777191-111777191 |
25 |
KCND3 |
NM_004980.4(KCND3):c.1917C>A (p.Asn639Lys) |
SNV |
Uncertain significance |
465168 |
rs777172603 |
1:112318750-112318750 |
1:111776128-111776128 |
26 |
KCND3 |
NM_004980.4(KCND3):c.89C>A (p.Ala30Asp) |
SNV |
Uncertain significance |
465169 |
rs1307934269 |
1:112525260-112525260 |
1:111982638-111982638 |
27 |
KCND3 |
NM_004980.4(KCND3):c.1709T>C (p.Met570Thr) |
SNV |
Uncertain significance |
465167 |
rs1553235743 |
1:112319705-112319705 |
1:111777083-111777083 |
28 |
KCND3 |
NM_004980.4(KCND3):c.1269+6C>T |
SNV |
Uncertain significance |
408900 |
rs1060502174 |
1:112329560-112329560 |
1:111786938-111786938 |
29 |
KCND3 |
NM_004980.4(KCND3):c.1849A>G (p.Ile617Val) |
SNV |
Uncertain significance |
533723 |
rs948125814 |
1:112318818-112318818 |
1:111776196-111776196 |
30 |
KCND3 |
NM_004980.4(KCND3):c.1934T>C (p.Ile645Thr) |
SNV |
Uncertain significance |
579054 |
rs1557929628 |
1:112318733-112318733 |
1:111776111-111776111 |
31 |
KCND3 |
NM_004980.4(KCND3):c.1741A>T (p.Ser581Cys) |
SNV |
Uncertain significance |
577665 |
rs1420542041 |
1:112319673-112319673 |
1:111777051-111777051 |
32 |
KCND3 |
NM_004980.4(KCND3):c.1496C>G (p.Ser499Cys) |
SNV |
Uncertain significance |
570216 |
rs976664434 |
1:112321080-112321080 |
1:111778458-111778458 |
33 |
KCND3 |
NM_004980.4(KCND3):c.1879G>A (p.Gly627Arg) |
SNV |
Uncertain significance |
647173 |
|
1:112318788-112318788 |
1:111776166-111776166 |
34 |
KCND3 |
NM_004980.4(KCND3):c.1784T>G (p.Leu595Trp) |
SNV |
Uncertain significance |
655552 |
|
1:112318883-112318883 |
1:111776261-111776261 |
35 |
KCND3 |
NM_004980.4(KCND3):c.1339A>G (p.Asn447Asp) |
SNV |
Uncertain significance |
663733 |
|
1:112323344-112323344 |
1:111780722-111780722 |
36 |
KCND3 |
NM_004980.4(KCND3):c.257G>A (p.Arg86Gln) |
SNV |
Uncertain significance |
689484 |
|
1:112525092-112525092 |
1:111982470-111982470 |
37 |
KCND3 |
NM_004980.4(KCND3):c.1646G>A (p.Arg549His) |
SNV |
Uncertain significance |
264530 |
rs35027371 |
1:112319768-112319768 |
1:111777146-111777146 |
38 |
KCND3 |
NC_000001.11:g.111778452C>T |
SNV |
Uncertain significance |
837098 |
|
1:112321074-112321074 |
1:111778452-111778452 |
39 |
KCND3 |
NC_000001.11:g.111982279C>T |
SNV |
Uncertain significance |
838739 |
|
1:112524901-112524901 |
1:111982279-111982279 |
40 |
KCND3 |
NM_004980.4(KCND3):c.519C>T (p.Phe173=) |
SNV |
Likely benign |
697110 |
|
1:112524830-112524830 |
1:111982208-111982208 |
41 |
KCND3 |
NM_004980.4(KCND3):c.618G>A (p.Pro206=) |
SNV |
Likely benign |
701177 |
|
1:112524731-112524731 |
1:111982109-111982109 |
42 |
KCND3 |
NM_004980.4(KCND3):c.9C>T (p.Ala3=) |
SNV |
Likely benign |
701218 |
|
1:112525340-112525340 |
1:111982718-111982718 |
43 |
KCND3 |
NM_004980.4(KCND3):c.1372-6T>C |
SNV |
Likely benign |
533727 |
rs765435324 |
1:112322942-112322942 |
1:111780320-111780320 |
44 |
KCND3 |
NM_004980.4(KCND3):c.117T>C (p.Asp39=) |
SNV |
Benign/Likely benign |
415284 |
rs12720446 |
1:112525232-112525232 |
1:111982610-111982610 |
45 |
KCND3 |
NM_004980.4(KCND3):c.1959C>T (p.Ser653=) |
SNV |
Benign/Likely benign |
508338 |
rs147087785 |
1:112318708-112318708 |
1:111776086-111776086 |
46 |
KCND3 |
NM_004980.4(KCND3):c.459G>A (p.Ser153=) |
SNV |
Benign/Likely benign |
510042 |
rs755206508 |
1:112524890-112524890 |
1:111982268-111982268 |
47 |
KCND3 |
NM_004980.4(KCND3):c.1308C>G (p.Gly436=) |
SNV |
Benign/Likely benign |
465163 |
rs190703406 |
1:112323375-112323375 |
1:111780753-111780753 |
48 |
KCND3 |
NM_004980.4(KCND3):c.207G>A (p.Thr69=) |
SNV |
Benign/Likely benign |
586065 |
rs751347311 |
1:112525142-112525142 |
1:111982520-111982520 |
49 |
KCND3 |
NM_004980.4(KCND3):c.627G>C (p.Thr209=) |
SNV |
Benign/Likely benign |
264148 |
rs149299911 |
1:112524722-112524722 |
1:111982100-111982100 |
50 |
KCND3 |
NM_004980.4(KCND3):c.633G>T (p.Pro211=) |
SNV |
Benign/Likely benign |
240083 |
rs35131566 |
1:112524716-112524716 |
1:111982094-111982094 |