1 |
TRIP12 |
NM_001348323.3(TRIP12):c.3968+1G>A |
SNV |
Pathogenic
|
446141 |
rs1553612358 |
GRCh37: 2:230659894-230659894 GRCh38: 2:229795178-229795178 |
2 |
TRIP12 |
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) |
SNV |
Pathogenic
|
446138 |
rs1553602821 |
GRCh37: 2:230650558-230650558 GRCh38: 2:229785842-229785842 |
3 |
TRIP12 |
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) |
MICROSAT |
Pathogenic
|
446136 |
rs1553704327 |
GRCh37: 2:230723928-230723929 GRCh38: 2:229859212-229859213 |
4 |
TRIP12 |
NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) |
DEL |
Pathogenic
|
446139 |
rs1553614300 |
GRCh37: 2:230661451-230661452 GRCh38: 2:229796735-229796736 |
5 |
TRIP12 |
NM_001348323.3(TRIP12):c.3482+1G>A |
SNV |
Pathogenic
|
446137 |
rs1553616463 |
GRCh37: 2:230663590-230663590 GRCh38: 2:229798874-229798874 |
6 |
TRIP12 |
NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) |
DUP |
Pathogenic
|
446140 |
rs1553620494 |
GRCh37: 2:230666969-230666970 GRCh38: 2:229802253-229802254 |
7 |
TRIP12 |
NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter) |
SNV |
Pathogenic
|
619982 |
|
GRCh37: 2:230656679-230656679 GRCh38: 2:229791963-229791963 |
8 |
TRIP12 |
NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter) |
SNV |
Pathogenic
|
812668 |
rs1575419803 |
GRCh37: 2:230679862-230679862 GRCh38: 2:229815146-229815146 |
9 |
TRIP12 |
NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) |
SNV |
Pathogenic
|
817548 |
rs1575161164 |
GRCh37: 2:230664098-230664098 GRCh38: 2:229799382-229799382 |
10 |
TRIP12 |
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) |
DUP |
Pathogenic
|
931032 |
rs2041642562 |
GRCh37: 2:230656628-230656629 GRCh38: 2:229791912-229791913 |
11 |
TRIP12 |
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) |
SNV |
Pathogenic
|
801907 |
rs1575203936 |
GRCh37: 2:230667008-230667008 GRCh38: 2:229802292-229802292 |
12 |
TRIP12 |
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) |
SNV |
Pathogenic
|
489242 |
rs1553636520 |
GRCh37: 2:230679895-230679895 GRCh38: 2:229815179-229815179 |
13 |
TRIP12 |
NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs) |
DUP |
Pathogenic
|
1028708 |
rs2036605188 |
GRCh37: 2:230642100-230642101 GRCh38: 2:229777384-229777385 |
14 |
TRIP12 |
NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) |
DUP |
Pathogenic
|
997950 |
rs2060119917 |
GRCh37: 2:230724115-230724116 GRCh38: 2:229859399-229859400 |
15 |
TRIP12 |
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) |
DEL |
Pathogenic
|
1285508 |
|
GRCh37: 2:230653626-230653626 GRCh38: 2:229788910-229788910 |
16 |
TRIP12 |
NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) |
SNV |
Pathogenic
|
1326281 |
|
GRCh37: 2:230668818-230668818 GRCh38: 2:229804102-229804102 |
17 |
TRIP12 |
NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) |
INSERT |
Pathogenic
|
1164053 |
|
GRCh37: 2:230672541-230672542 GRCh38: 2:229807825-229807826 |
18 |
TRIP12 |
NM_001348323.3(TRIP12):c.3816+2T>A |
SNV |
Pathogenic
|
1703055 |
|
GRCh37: 2:230661305-230661305 GRCh38: 2:229796589-229796589 |
19 |
TRIP12 |
NM_001348323.3(TRIP12):c.4216-2A>G |
SNV |
Pathogenic
|
1709568 |
|
GRCh37: 2:230656783-230656783 GRCh38: 2:229792067-229792067 |
20 |
TRIP12 |
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) |
SNV |
Pathogenic/Likely Pathogenic
|
620003 |
|
GRCh37: 2:230636242-230636242 GRCh38: 2:229771526-229771526 |
21 |
TRIP12 |
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter) |
DUP |
Likely Pathogenic
|
1709873 |
|
GRCh37: 2:230632364-230632365 GRCh38: 2:229767648-229767649 |
22 |
TRIP12 |
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) |
INDEL |
Likely Pathogenic
|
1334586 |
|
GRCh37: 2:230643237-230643254 GRCh38: 2:229778521-229778538 |
23 |
TRIP12 |
NM_001348323.3(TRIP12):c.4838+2T>G |
SNV |
Likely Pathogenic
|
998078 |
rs2040714903 |
GRCh37: 2:230653512-230653512 GRCh38: 2:229788796-229788796 |
24 |
TRIP12 |
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) |
SNV |
Likely Pathogenic
|
801906 |
rs1468657712 |
GRCh37: 2:230652230-230652230 GRCh38: 2:229787514-229787514 |
25 |
TRIP12 |
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) |
SNV |
Likely Pathogenic
|
1098288 |
|
GRCh37: 2:230652312-230652312 GRCh38: 2:229787596-229787596 |
26 |
TRIP12 |
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) |
SNV |
Likely Pathogenic
|
984640 |
rs2032214426 |
GRCh37: 2:230632352-230632352 GRCh38: 2:229767636-229767636 |
27 |
TRIP12 |
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) |
DEL |
Likely Pathogenic
|
873430 |
rs2042881907 |
GRCh37: 2:230661315-230661315 GRCh38: 2:229796599-229796599 |
28 |
TRIP12 |
NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp) |
SNV |
Uncertain Significance
|
930270 |
rs772399122 |
GRCh37: 2:230675869-230675869 GRCh38: 2:229811153-229811153 |
29 |
TRIP12 |
NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr) |
SNV |
Uncertain Significance
|
930284 |
rs771031325 |
GRCh37: 2:230693978-230693978 GRCh38: 2:229829262-229829262 |
30 |
TRIP12 |
NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg) |
SNV |
Uncertain Significance
|
931101 |
rs2056267716 |
GRCh37: 2:230705634-230705634 GRCh38: 2:229840918-229840918 |
31 |
TRIP12 |
NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp) |
SNV |
Uncertain Significance
|
975859 |
rs1268798250 |
GRCh37: 2:230661349-230661349 GRCh38: 2:229796633-229796633 |
32 |
TRIP12 |
NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter) |
SNV |
Uncertain Significance
|
975899 |
rs1387893497 |
GRCh37: 2:230632290-230632290 GRCh38: 2:229767574-229767574 |
33 |
TRIP12 |
NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala) |
SNV |
Uncertain Significance
|
801905 |
rs1574632490 |
GRCh37: 2:230632440-230632440 GRCh38: 2:229767724-229767724 |
34 |
TRIP12 |
NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) |
SNV |
Uncertain Significance
|
996963 |
rs1305168076 |
GRCh37: 2:230675746-230675746 GRCh38: 2:229811030-229811030 |
35 |
TRIP12 |
NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala) |
SNV |
Uncertain Significance
|
801908 |
rs986636922 |
GRCh37: 2:230723532-230723532 GRCh38: 2:229858816-229858816 |
36 |
TRIP12 |
NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) |
SNV |
Uncertain Significance
|
1028709 |
rs780999801 |
GRCh37: 2:230723812-230723812 GRCh38: 2:229859096-229859096 |
37 |
TRIP12 |
NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) |
SNV |
Uncertain Significance
|
1028710 |
rs779389307 |
GRCh37: 2:230723526-230723526 GRCh38: 2:229858810-229858810 |
38 |
TRIP12 |
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) |
SNV |
Uncertain Significance
|
1031393 |
rs764732335 |
GRCh37: 2:230660028-230660028 GRCh38: 2:229795312-229795312 |
39 |
TRIP12 |
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) |
SNV |
Uncertain Significance
|
1031394 |
rs1157793506 |
GRCh37: 2:230656744-230656744 GRCh38: 2:229792028-229792028 |
40 |
TRIP12 |
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) |
SNV |
Uncertain Significance
|
1031395 |
rs2036612429 |
GRCh37: 2:230642131-230642131 GRCh38: 2:229777415-229777415 |
41 |
TRIP12 |
NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn) |
SNV |
Uncertain Significance
|
1064567 |
|
GRCh37: 2:230652288-230652288 GRCh38: 2:229787572-229787572 |
42 |
TRIP12 |
NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) |
SNV |
Uncertain Significance
|
1028707 |
rs1428800056 |
GRCh37: 2:230643205-230643205 GRCh38: 2:229778489-229778489 |
43 |
TRIP12 |
NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys) |
SNV |
Uncertain Significance
|
1299591 |
|
GRCh37: 2:230701674-230701674 GRCh38: 2:229836958-229836958 |
44 |
TRIP12 |
NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) |
SNV |
Uncertain Significance
|
1325557 |
|
GRCh37: 2:230725209-230725209 GRCh38: 2:229860493-229860493 |
45 |
TRIP12 |
NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) |
SNV |
Uncertain Significance
|
1325601 |
|
GRCh37: 2:230633401-230633401 GRCh38: 2:229768685-229768685 |
46 |
TRIP12 |
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) |
SNV |
Uncertain Significance
|
1341777 |
|
GRCh37: 2:230723767-230723767 GRCh38: 2:229859051-229859051 |
47 |
TRIP12 |
NM_001348323.3(TRIP12):c.3434G>T (p.Gly1145Val) |
SNV |
Uncertain Significance
|
1333864 |
|
GRCh37: 2:230663639-230663639 GRCh38: 2:229798923-229798923 |
48 |
TRIP12 |
NM_001348323.3(TRIP12):c.3725T>C (p.Leu1242Pro) |
SNV |
Uncertain Significance
|
1333865 |
|
GRCh37: 2:230661398-230661398 GRCh38: 2:229796682-229796682 |
49 |
TRIP12 |
NM_001348323.3(TRIP12):c.3206+408T>G |
SNV |
Uncertain Significance
|
1342518 |
|
GRCh37: 2:230666560-230666560 GRCh38: 2:229801844-229801844 |
50 |
TRIP12 |
NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) |
SNV |
Uncertain Significance
|
1342601 |
|
GRCh37: 2:230744718-230744718 GRCh38: 2:229880002-229880002 |