1 |
TCF12 |
NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) |
SNV |
Pathogenic |
55911 |
rs886037636 |
15:57524926-57524926 |
15:57232728-57232728 |
2 |
TCF12 |
NM_207037.2(TCF12):c.1491dup (p.Val498fs) |
Duplication |
Pathogenic |
55912 |
rs886037637 |
15:57554314-57554315 |
15:57262116-57262117 |
3 |
TCF12 |
NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) |
SNV |
Pathogenic |
55913 |
rs398122381 |
15:57524525-57524525 |
15:57232327-57232327 |
4 |
TCF12 |
NM_207037.2(TCF12):c.1646del (p.Lys549fs) |
Deletion |
Pathogenic |
55914 |
rs886037638 |
15:57555370-57555370 |
15:57263172-57263172 |
5 |
TCF12 |
NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) |
SNV |
Pathogenic |
55915 |
rs886037639 |
15:57565445-57565445 |
15:57273247-57273247 |
6 |
TCF12 |
NM_207037.2(TCF12):c.1035+3G>C |
SNV |
Pathogenic |
55916 |
rs886037640 |
15:57526308-57526308 |
15:57234110-57234110 |
7 |
TCF12 |
NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) |
SNV |
Pathogenic |
55917 |
rs886037641 |
15:57565394-57565394 |
15:57273196-57273196 |
8 |
TCF12 |
NM_207037.2(TCF12):c.998_999CA[1] (p.Gln334fs) |
Microsatellite |
Pathogenic |
127269 |
|
15:57526268-57526269 |
15:57234070-57234071 |
9 |
TCF12 |
NM_207037.2(TCF12):c.1071del (p.Ser358fs) |
Deletion |
Pathogenic |
127270 |
|
15:57535705-57535705 |
15:57243507-57243507 |
10 |
TCF12 |
NM_207037.2(TCF12):c.1366dup (p.Ile456fs) |
Duplication |
Pathogenic |
127271 |
|
15:57545564-57545565 |
15:57253366-57253367 |
11 |
TCF12 |
NM_207037.2(TCF12):c.1838G>A (p.Arg613His) |
SNV |
Pathogenic |
127272 |
|
15:57565320-57565320 |
15:57273122-57273122 |
12 |
TCF12 |
NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) |
SNV |
Pathogenic |
374377 |
rs758543580 |
15:57565358-57565358 |
15:57273160-57273160 |
13 |
TCF12 |
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs) |
Deletion |
Pathogenic |
436958 |
rs1555412971 |
15:57555366-57555369 |
15:57263168-57263171 |
14 |
TCF12 |
NM_207037.2(TCF12):c.786dup (p.Ser263fs) |
Duplication |
Pathogenic |
692240 |
rs1597483678 |
15:57524587-57524588 |
15:57232389-57232390 |
15 |
TCF12 |
NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter) |
SNV |
Pathogenic |
930393 |
|
15:57554365-57554365 |
15:57262167-57262167 |
16 |
TCF12 |
NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) |
Deletion |
Pathogenic |
984943 |
|
15:57565386-57565387 |
15:57273188-57273189 |
17 |
TCF12 |
NM_207037.2(TCF12):c.1035+5G>A |
SNV |
Pathogenic |
235692 |
rs878853094 |
15:57526310-57526310 |
15:57234112-57234112 |
18 |
TCF12 |
NM_207037.2(TCF12):c.778_779del (p.Met260fs) |
Deletion |
Likely pathogenic |
871063 |
|
15:57524581-57524582 |
15:57232383-57232384 |
19 |
TCF12 |
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) |
SNV |
Likely pathogenic |
987901 |
|
15:57565290-57565290 |
15:57273092-57273092 |
20 |
TCF12 |
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) |
SNV |
Uncertain significance |
982695 |
|
15:57565319-57565319 |
15:57273121-57273121 |
21 |
TCF12 |
NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) |
SNV |
Uncertain significance |
374376 |
rs1057518720 |
15:57555447-57555447 |
15:57263249-57263249 |
22 |
TCF12 |
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) |
SNV |
not provided |
489259 |
rs1555409014 |
15:57543561-57543561 |
15:57251363-57251363 |