Q9BYW2
EV
Gene name |
SETD2 |
Protein name |
Histone-lysine N-methyltransferase SETD2 |
Names |
HIF-1, Huntingtin yeast partner B, Huntingtin-interacting protein 1, HIP-1, Huntingtin-interacting protein B, Lysine N-methyltransferase 3A, Protein-lysine N-methyltransferase SETD2, SET domain-containing protein 2, hSET2, p231HBP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29072 |
EC number |
2.1.1.359: Methyltransferases |
Protein Class |
HISTONE-LYSINE N-METHYLTRANSFERASE SETD2 (PTHR46711) |
Descriptions
Huntingtin(Htt) yeast two-hybrid protein B (HYPB, which is known as SETD2), a histone methyltransferase, directly interacts with Htt and is involved in Huntington's disease pathology. The WW domain (2383-2430) of HYPB specifically interacts with the preceding polyproline (polyP) stretch to form a structural entity and this autoinhibitory structure provides an arena for allosterically regulating its interaction with Htt proline-rich region (PRR). The polyP region can be divided into two peptide segments: PP1 and PP2. PP2WW is predominantly in the closed state, effectively inhibiting the WW domain from interacting with other PRRs, such as Htt PRR. Thus, the interaction between the WW domain of HYPB and PRR of Htt is finely modulated intramolecularly by the polyP stretch.
Autoinhibitory domains (AIDs)
Target domain |
2389-2422 (WW domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
29 structures for Q9BYW2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A7O | NMR | - | A | 2457-2564 | PDB |
| 2MDC | NMR | - | A | 2385-2430 | PDB |
| 2MDI | NMR | - | A | 2377-2430 | PDB |
| 2MDJ | NMR | - | A | 2377-2430 | PDB |
| 4FMU | X-ray | 210 A | A | 1434-1711 | PDB |
| 4H12 | X-ray | 199 A | A | 1434-1711 | PDB |
| 5JJY | X-ray | 205 A | A | 1434-1711 | PDB |
| 5JLB | X-ray | 150 A | A | 1434-1711 | PDB |
| 5JLE | X-ray | 240 A | A | 1434-1711 | PDB |
| 5LSS | X-ray | 179 A | A | 1433-1711 | PDB |
| 5LSX | X-ray | 290 A | A | 1433-1711 | PDB |
| 5LSY | X-ray | 162 A | A | 1433-1711 | PDB |
| 5LSZ | X-ray | 162 A | A | 1433-1711 | PDB |
| 5LT6 | X-ray | 205 A | A/B | 1433-1711 | PDB |
| 5LT7 | X-ray | 151 A | A | 1433-1711 | PDB |
| 5LT8 | X-ray | 157 A | A | 1433-1711 | PDB |
| 5V21 | X-ray | 242 A | A | 1435-1711 | PDB |
| 5V22 | X-ray | 240 A | A | 1435-1711 | PDB |
| 6J9J | X-ray | 178 A | A | 1447-1703 | PDB |
| 6VDB | X-ray | 230 A | A | 1433-1711 | PDB |
| 7EA8 | EM | 310 A | L | 1452-1696 | PDB |
| 7EVR | X-ray | 180 A | B/D | 2167-2192 | PDB |
| 7EVS | X-ray | 160 A | C/D | 2180-2192 | PDB |
| 7LZB | X-ray | 228 A | A | 1434-1711 | PDB |
| 7LZD | X-ray | 180 A | A | 1434-1711 | PDB |
| 7LZF | X-ray | 247 A | A | 1434-1711 | PDB |
| 7TY2 | X-ray | 244 A | A | 1434-1711 | PDB |
| 7TY3 | X-ray | 230 A | A | 1434-1711 | PDB |
| AF-Q9BYW2-F1 | Predicted | AlphaFoldDB |
1673 variants for Q9BYW2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1221828308 RCV000795794 |
1 | M>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363807 RCV000652616 RCV001193986 rs541943893 RCV000623624 |
7 | Q>* | Luscan-Lumish syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553707534 CA352512636 RCV000533340 |
9 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773221585 CA2363803 RCV001043681 |
10 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352512595 RCV000943855 rs1575863434 RCV001497626 |
11 | K>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352512333 RCV001066060 rs892374525 |
23 | P>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352538620 rs1170321784 RCV000702395 |
32 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA73812492 RCV000652628 rs191985301 |
50 | A>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001296867 rs745499104 CA73812486 |
53 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs770312954 CA73812389 RCV001337377 |
88 | F>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs374799616 CA2363754 RCV001549883 RCV001225345 |
89 | L>F | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2363753 RCV001315546 rs749621716 |
94 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs539506462 RCV000652647 RCV001458230 CA162062 RCV000122035 |
104 | P>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA73812333 rs187767340 RCV000560831 |
112 | S>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV001291672 rs2043233709 |
140 | G>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369333306 CA2363749 RCV000543934 |
159 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs78682369 RCV000543864 RCV001653924 CA2363748 |
167 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213480 CA2363747 rs561734692 |
175 | A>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000652625 rs1318754770 CA352536304 |
180 | S>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000713187 CA162065 RCV000122036 rs78759480 RCV001079271 |
186 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000550253 rs77310684 CA2363742 |
193 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001062936 rs764288610 |
194 | P>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524972 rs374950143 CA2363739 RCV001597172 |
197 | A>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2043218281 RCV001048326 |
221 | V>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363732 RCV000526824 rs192262279 |
222 | L>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000652613 CA73812141 rs780963440 |
226 | P>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352535509 VAR_079057 rs780963440 |
226 | P>S | ALL; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs780263835 RCV001330486 |
228 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226100 rs2043214840 |
241 | P>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA73812095 rs750623264 RCV001235152 |
259 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs186148199 VAR_079058 CA73812062 RCV000544755 |
267 | V>I | Luscan-Lumish syndrome ALL; unknown pathological significance; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000208536 CA352132 rs869025571 |
274 | Q>* | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707257 CA352533233 rs1303561180 |
307 | S>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000992926 CA2363721 rs540015912 RCV001060084 |
329 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs372869995 CA2363723 RCV001052761 |
329 | R>W | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352532604 RCV000921512 RCV001512163 rs1481483810 |
341 | F>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000818901 rs1320463023 CA352532397 |
350 | D>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA352532032 RCV000697006 rs1385695873 |
368 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2363707 rs368465960 RCV001341491 |
394 | C>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001045803 rs937652837 CA73811715 |
395 | R>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA352531701 RCV001201440 rs1186063799 |
400 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001683695 rs182736967 CA2363702 RCV000946362 |
402 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1196156010 RCV001342145 |
403 | S>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1575818079 CA352531668 RCV000812655 |
404 | R>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059882 rs1049982695 CA73811669 |
416 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2363700 rs546591954 RCV001324828 |
419 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA2363698 rs528110877 RCV000945578 |
433 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001293749 rs1293916143 |
441 | R>* | Acute megakaryoblastic leukemia without down syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1030309071 RCV001039427 |
444 | T>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA73811594 RCV001034088 rs1030309071 |
444 | T>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001328718 rs1306620044 CA352531155 |
445 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000691817 rs935586454 CA73811579 |
445 | R>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1575817748 RCV001349964 |
446 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815590 CA352531133 rs1575817748 |
446 | Y>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2043179824 RCV001202283 |
457 | E>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042552 CA2363692 rs191313431 |
471 | R>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2363691 RCV000703479 rs771203643 |
472 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201984344 RCV000878832 RCV001672981 CA2363690 |
472 | R>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1559748168 RCV000706117 CA352530532 |
486 | S>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2363680 rs757035494 RCV001041565 |
493 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000652621 rs778693117 CA2363681 |
493 | R>W | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043173937 RCV001291780 |
499 | T>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001773542 CA2363675 rs768072239 RCV001239492 |
508 | G>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769791652 CA2363668 RCV000816979 |
527 | I>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000548869 rs373069098 RCV000122021 CA162020 |
527 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs527381545 RCV001333723 |
530 | C>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211080 CA73811229 rs998829034 |
530 | C>W | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773040363 RCV001034361 |
531 | C>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000526963 rs753117350 CA2363659 |
537 | L>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001223293 CA2363655 rs371758386 |
540 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144677816 RCV000979982 CA352529763 |
541 | R>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375514539 RCV001215079 CA73811177 |
554 | R>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000689307 rs573301881 CA2363651 |
555 | Y>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs745846357 CA2363648 RCV001320123 |
557 | S>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303745 rs770524703 CA2363646 |
561 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001314717 RCV000992924 rs202178837 CA2363645 |
563 | I>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703226 rs587778668 RCV000122022 CA162023 |
563 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2043162382 RCV001328719 |
566 | S>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363641 RCV001042993 rs781658728 |
569 | F>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138401612 CA2363637 RCV000537310 RCV001644663 |
578 | L>F | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215080 rs2043159637 |
582 | I>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352529234 rs1258459428 RCV001241831 |
590 | L>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs115569620 RCV000122031 RCV000547348 CA162050 |
592 | T>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774362891 RCV001034456 |
597 | G>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372547666 COSM1732208 CA2363630 RCV001347106 RCV001820046 |
600 | L>V | kidney Luscan-Lumish syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001266124 rs2043155739 |
610 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706329 CA2363627 rs575862721 |
611 | K>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001034111 rs372521251 |
617 | P>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1732206 rs145650484 RCV000652623 RCV001719158 RCV001816638 CA2363615 |
629 | K>E | kidney Luscan-Lumish syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000888528 rs147609782 CA2363610 |
635 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306609 rs2043150664 |
641 | I>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363608 RCV000525794 rs776293901 |
643 | H>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA73810874 rs1019436227 RCV001298194 |
668 | P>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs374976472 RCV000693609 CA2363598 |
670 | E>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000208551 rs869025572 |
677 | P>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352528123 RCV001328720 rs766229574 |
677 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA73810805 rs764219907 RCV001034118 |
677 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2363595 RCV000809229 rs145499611 |
678 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001316982 CA2363594 rs750308104 |
679 | A>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043144038 RCV001304111 |
682 | D>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043143411 RCV001303945 |
687 | C>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371953347 CA2363591 RCV000699289 |
691 | T>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2363584 RCV000685662 rs746219041 |
705 | S>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001705897 RCV000122023 RCV000652615 CA162026 rs115859828 |
719 | N>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs115859828 RCV001204839 |
719 | N>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001043964 rs757184844 CA2363574 |
726 | R>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201680 rs2043137258 |
731 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043136924 RCV001308794 |
732 | L>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774644234 RCV000652611 CA2363567 |
742 | S>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2363564 rs547767170 RCV001062825 |
750 | E>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000122032 RCV001087250 RCV000428574 CA162053 rs115788094 |
751 | P>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352527043 rs1311443196 RCV001305811 |
760 | L>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000954427 COSM1581660 RCV000122039 rs188887061 CA162074 VAR_079061 |
761 | M>I | liver Luscan-Lumish syndrome ALL; unknown pathological significance; somatic mutation haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000703418 CA352526965 rs1325359308 |
765 | V>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs564476604 RCV000556353 CA2363556 |
767 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000122040 CA162077 RCV001080516 RCV000713182 rs9311404 VAR_027839 |
768 | V>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352526894 RCV001247535 rs1427099928 |
771 | S>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs142099709 RCV000907492 CA2363554 |
772 | K>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001281491 rs2043131227 |
774 | V>L | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770481865 RCV001350945 |
775 | V>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342439 rs371122735 CA2363550 |
776 | K>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
VAR_079063 CA352526586 rs1169288572 |
800 | S>N | AML; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1241448462 RCV000700220 CA352526573 |
801 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001216701 rs2043125754 |
806 | N>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363536 RCV000938114 rs537620848 |
812 | I>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA162104 rs115023083 RCV000652629 RCV000122049 |
817 | M>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2363529 rs772334379 RCV000685663 |
818 | K>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2363524 rs142668029 RCV001309230 |
836 | C>W | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1559745772 RCV000692351 CA352526221 |
836 | C>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540302 rs1441287639 CA352526191 |
839 | R>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001302644 rs570065365 CA2363523 |
840 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA2363520 rs758169057 RCV001303334 |
847 | F>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs75248784 CA162056 RCV001083376 RCV000122033 RCV000514303 |
848 | A>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776511280 CA2363517 RCV000817179 |
849 | C>F | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043118526 RCV001067943 |
851 | E>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122026 RCV001573515 RCV000945919 CA162035 rs201752182 |
868 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000652627 CA352525716 rs1269748231 |
883 | L>F | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1194240525 RCV000538802 CA352525546 |
901 | G>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000122042 RCV001668277 RCV000553714 CA162083 rs58906143 VAR_061216 |
902 | E>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs940126759 RCV001212976 CA73809901 |
906 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001048018 rs1396372237 |
911 | V>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543336 rs1167396235 CA352525248 |
926 | K>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs72895708 RCV000122034 CA162059 RCV000557803 RCV001675629 |
928 | T>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000122043 CA162086 rs141532143 RCV000695488 |
932 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001088547 RCV001816744 rs202209141 RCV000713183 CA2363485 |
933 | G>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs755037858 CA2363482 RCV001212975 |
938 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000696563 RCV000859748 rs751707090 CA2363481 |
940 | G>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352525019 rs1398213134 RCV000652617 |
941 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2363474 rs149265978 RCV001345358 |
950 | R>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs781662505 RCV000707115 CA352524642 |
965 | E>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs939989327 RCV001245290 CA352524575 |
971 | P>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200569407 RCV000652622 CA73809618 |
981 | L>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs760501131 RCV001304465 |
985 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1559744630 RCV000820201 CA352524368 |
986 | E>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759593227 RCV000652614 CA2363453 |
987 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001350152 CA2363449 rs371777668 |
994 | D>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs769399537 RCV001214855 CA2363447 |
998 | V>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001034358 rs114527197 CA2363444 |
1009 | M>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
rs769034482 RCV001241164 CA2363443 |
1013 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs145759179 CA162038 RCV000122027 RCV000546373 |
1033 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055684 rs2043087836 |
1033 | T>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804532 rs587778673 RCV000122045 CA162092 |
1044 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA73809394 RCV001039670 rs995603520 |
1049 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2043085221 RCV001034245 |
1051 | S>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765867260 RCV000701026 CA2363426 |
1065 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs114719990 RCV000122029 RCV000556656 CA162044 RCV001529297 |
1077 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001518643 CA162098 RCV001610430 RCV000122047 rs76208147 |
1080 | M>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001049230 rs2043080502 |
1080 | M>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753435281 RCV000803259 CA2363414 |
1084 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs536163785 CA2363411 RCV000805407 |
1089 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA2363406 RCV001295265 rs146397596 |
1097 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053400 rs2043073720 |
1119 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1314067079 CA352522767 RCV001340119 |
1120 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM189830 RCV000534747 rs1336548478 CA352522757 |
1121 | A>T | large_intestine Luscan-Lumish syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA2363394 RCV000623529 rs538871720 RCV000652612 |
1124 | A>V | Luscan-Lumish syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000542349 RCV001572972 CA2363387 rs142723093 |
1141 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001212336 rs755283712 CA2363375 |
1159 | E>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000548155 rs137871492 RCV001821637 CA2363373 RCV001707740 |
1162 | H>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1291041398 RCV001860443 CA352522220 RCV000623718 |
1169 | D>G | Luscan-Lumish syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA73808975 VAR_079066 rs540476365 |
1171 | T>A | ALL; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA352521971 rs1559742980 RCV000687640 |
1191 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1211620525 RCV000541147 CA352521935 |
1194 | I>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs541209644 CA2363364 RCV000810690 |
1194 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA352521899 rs1575811938 RCV000816331 |
1198 | Q>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2363362 RCV001049947 rs749181159 |
1201 | E>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780702915 RCV001226077 CA2363356 |
1205 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313491 rs755498169 CA2363354 |
1208 | D>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000892187 CA2363351 rs201177499 |
1214 | N>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001229355 rs2043058188 |
1219 | Q>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291822 rs764195998 CA2363347 |
1220 | T>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2363346 rs760833718 RCV001208178 |
1221 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043056964 RCV001232118 |
1224 | N>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776766535 CA2363344 RCV001034107 |
1226 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1340269021 CA352521571 RCV001247874 |
1227 | D>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2363342 RCV000798991 rs773007833 |
1231 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064530 CA2363339 rs780705204 |
1237 | F>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352521346 RCV000623176 rs955793443 |
1248 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001053014 rs2043052732 |
1250 | H>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794700 rs750887950 CA2363334 |
1257 | N>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001206282 CA352521170 rs760745679 |
1263 | S>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048390 rs2043049417 |
1268 | S>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352520990 RCV001333724 rs756174508 |
1279 | G>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1387669118 RCV000696283 CA352520944 RCV001516595 |
1284 | H>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001218688 CA352520899 rs1553700083 RCV000624575 |
1287 | Q>P | Luscan-Lumish syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2363299 RCV001065642 rs574705730 |
1303 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2043042281 RCV001293748 |
1306 | W>* | Acute megakaryoblastic leukemia without down syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2043042135 RCV001238792 |
1307 | D>Y | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061064 rs2043039729 |
1320 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807446 CA352519444 rs1575810763 |
1323 | T>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1575810676 CA352519313 RCV000807156 |
1331 | L>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1216047088 RCV001300380 COSM1045455 CA352519253 |
1335 | R>C | Luscan-Lumish syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs781672875 CA2363275 RCV000552337 RCV000523619 |
1343 | Q>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs755070193 RCV001058889 |
1344 | Q>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200416051 CA2363273 RCV001224732 |
1345 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001217803 rs369469691 CA2363262 |
1359 | S>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000687040 rs1559741577 CA352518749 |
1364 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2363261 rs772882978 RCV000652630 |
1365 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2363259 RCV000652610 rs762222123 |
1374 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA352518567 RCV001063441 rs1348411642 |
1375 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001069560 rs2043028879 |
1384 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238499 rs781155076 CA2363249 |
1396 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754921650 VAR_079069 CA2363248 |
1397 | D>G | AML; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs145732065 RCV000122051 RCV000960671 CA162110 |
1398 | I>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001208792 rs2043025067 |
1407 | R>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039762 rs373340813 CA2363243 |
1414 | D>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034024 CA2363242 rs762132169 |
1417 | S>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064806 RCV001256063 rs777992018 CA2363224 RCV000414404 |
1459 | R>Q | Autistic disorder Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA73803352 RCV001308147 rs543066717 |
1483 | T>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001333725 rs749482493 CA2363217 |
1484 | E>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1045468 CA352516528 rs1553699111 RCV000529316 |
1496 | R>Q | Luscan-Lumish syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001060731 rs1305683949 |
1500 | E>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2363153 RCV000887626 rs750924110 |
1572 | S>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001347156 rs2042408479 |
1578 | E>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2042407555 RCV001255163 |
1586 | H>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA73791882 rs374749926 RCV001224687 |
1602 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1370286985 CA352514654 RCV001345178 |
1611 | N>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001333726 rs2042289966 |
1614 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253536 rs2042289575 RCV001531387 |
1619 | Q>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652620 rs1553694843 CA352513314 |
1643 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303150 rs2042210578 |
1644 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1478147351 CA352513093 VAR_079076 |
1663 | T>M | ALL; unknown pathological significance; somatic mutation [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
COSM1581654 RCV000779642 RCV001258008 CA352513058 rs1559720382 |
1666 | Y>C | Dandy-Walker syndrome Luscan-Lumish syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs367601805 CA2363001 RCV001324471 |
1686 | R>Q | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2041647091 RCV001238255 |
1717 | G>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141847082 CA2362954 RCV000700594 |
1734 | Q>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2362938 RCV001330485 rs772972461 |
1760 | N>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs758473163 RCV000802480 CA2362931 |
1773 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376246790 CA161993 RCV000122012 RCV001053015 |
1790 | R>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_076536 rs869025570 CA352148 |
1815 | L>W | LLS; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA352536576 RCV001234178 rs1196664039 |
1837 | L>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804724 CA352536456 rs1575745225 |
1842 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1575745202 RCV000811842 RCV001799710 CA352536343 |
1848 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696280 rs1559701896 CA352536176 |
1854 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2362880 rs758229404 RCV001201591 |
1856 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2362876 RCV000982556 rs539289124 |
1866 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000814865 rs138568145 CA2362868 |
1878 | F>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000557190 CA162008 rs587778665 RCV000122017 |
1878 | F>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA352535491 rs1575744958 RCV001302348 |
1879 | R>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs148097513 CA2362865 RCV000535367 |
1889 | M>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376263588 RCV001042253 CA73812876 |
1897 | T>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2041433287 RCV001254166 |
1921 | E>* | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652619 rs116417406 CA162002 RCV000122015 |
1938 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2362845 RCV001034382 rs115156486 |
1940 | S>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369421455 CA2362844 RCV000945778 |
1943 | N>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2041427730 RCV001350586 |
1950 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2362842 RCV001518825 RCV000896798 rs146894026 |
1951 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553690289 RCV000652624 CA352533008 |
1957 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691007 rs377115716 CA2362840 |
1958 | A>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218378 CA2362839 rs377115716 |
1958 | A>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs4082155 RCV000122014 RCV000713188 VAR_027841 RCV001511089 CA161999 |
1962 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA352531338 rs1482463965 RCV001233482 |
1963 | K>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000687740 CA73812731 rs143991928 |
1967 | G>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001719891 rs143991928 CA162005 RCV000652643 RCV000122016 |
1967 | G>D | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372610050 RCV001216990 CA2362835 |
1969 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs189529024 RCV000652618 CA2362830 |
1981 | Q>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001066275 rs748068732 CA2362826 |
1996 | Q>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373627213 CA2362824 RCV001323862 |
2002 | T>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000903237 rs779750876 CA2362822 |
2005 | I>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001034032 rs2041417331 |
2007 | D>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2041416610 RCV001227955 |
2010 | T>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688089 CA352530214 rs1366338930 |
2015 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001043844 rs2041415373 |
2018 | D>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2362800 rs113798770 RCV000539835 |
2037 | T>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652626 CA352525277 rs1244929991 |
2040 | R>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001037320 rs2040370171 |
2041 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146911485 RCV001339724 CA2362754 |
2057 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs116277395 RCV001692196 CA2362753 RCV000549903 |
2058 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2362752 rs745410359 RCV001198526 |
2060 | S>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs748980966 RCV001351017 CA2362749 |
2064 | D>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059709 rs2040365291 |
2071 | N>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000924910 rs755057984 CA2362743 RCV001518756 |
2079 | S>N | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553685117 CA352524366 RCV000528345 RCV001770481 |
2081 | L>F | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755881799 RCV001226948 |
2103 | T>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869025569 RCV000208546 |
2114 | N>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034129 rs2040130872 |
2114 | N>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139626026 CA2362705 RCV000796311 |
2143 | N>K | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1559673216 CA352521027 RCV001313436 |
2151 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139628048 RCV001726241 CA2362703 RCV000538363 |
2152 | Y>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001450208 RCV000890582 CA2362702 rs772107314 |
2154 | S>C | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001242722 CA2362701 rs745996964 |
2160 | P>L | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000810590 rs1575701343 CA352520875 |
2161 | H>P | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821628 CA2362685 rs143083979 |
2202 | P>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2362682 rs746404627 RCV000553274 |
2205 | H>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2040119851 RCV001058159 |
2210 | V>M | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778666 RCV000122019 CA162014 RCV001235272 |
2222 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1304905045 CA352520322 RCV001313916 |
2224 | P>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs377066147 RCV001574013 RCV000541716 COSM1732204 CA2362680 RCV001727762 |
2229 | V>G | kidney Luscan-Lumish syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA352520025 RCV000803311 rs1575700909 |
2246 | G>A | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319911 rs2040114508 |
2247 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242414 rs746928112 CA2362668 |
2254 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA352519840 RCV001060387 rs1403270185 |
2257 | L>W | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001347888 rs2040109665 |
2271 | S>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652645 CA2362649 COSM1581652 rs150476239 |
2295 | I>M | Luscan-Lumish syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040036 CA352518876 rs1193656443 |
2299 | G>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000818974 rs374228543 CA73795947 |
2318 | P>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
rs1468649782 CA352515716 RCV001237562 |
2327 | S>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA352515709 rs1232434419 RCV001217481 |
2328 | L>V | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000798883 rs1575682841 |
2334 | Q>missing | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2362606 rs199739297 RCV001205507 |
2350 | A>S | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199739297 RCV000816501 CA2362605 |
2350 | A>T | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2362603 RCV001574059 COSM308468 RCV000531325 rs145377213 |
2354 | T>A | kidney Luscan-Lumish syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706030 rs894915057 CA73789420 |
2365 | Q>E | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001204757 rs2039334411 |
2381 | P>H | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA352514192 rs1200573511 RCV001308364 |
2396 | K>R | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001043881 CA73783646 rs751118723 |
2424 | S>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775780402 RCV001229267 CA2362502 COSM1045426 |
2452 | S>L | large_intestine Luscan-Lumish syndrome endometrium [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001043833 rs141852778 CA2362482 |
2483 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2362457 rs768564000 RCV001208523 |
2554 | V>I | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001227417 rs2038014136 |
2562 | E>G | Luscan-Lumish syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1410684482 CA352512780 |
3 | Q>E | No |
ClinGen TOPMed |
|
|
CA352512735 rs1575863515 |
5 | Q>R | No |
ClinGen Ensembl |
|
|
CA2363809 rs773983305 |
6 | P>L | No |
ClinGen ExAC |
|
|
CA352512661 rs1382765308 |
8 | P>L | No |
ClinGen TOPMed |
|
|
CA352512646 rs1244597073 |
9 | P>S | No |
ClinGen TOPMed |
|
|
rs868177166 CA73802706 |
11 | K>T | No |
ClinGen Ensembl |
|
|
rs1265402763 CA352512484 |
16 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769869483 CA2363802 |
22 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA73802698 rs892374525 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352512314 rs1181685588 |
24 | E>G | No |
ClinGen TOPMed |
|
|
rs919876748 CA73812532 |
31 | K>E | No |
ClinGen Ensembl |
|
|
rs1244194839 CA352538606 |
34 | N>H | No |
ClinGen gnomAD |
|
|
rs868820087 CA73812524 |
35 | V>L | No |
ClinGen gnomAD |
|
|
CA352538598 rs868820087 |
35 | V>M | No |
ClinGen gnomAD |
|
|
CA352538590 rs1442368577 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
rs1452927592 CA352538560 |
39 | G>D | No |
ClinGen TOPMed |
|
|
rs1311481935 CA352538504 |
44 | P>L | No |
ClinGen TOPMed |
|
|
rs1257544813 CA352538509 |
44 | P>S | No |
ClinGen gnomAD |
|
|
rs753767436 CA2363762 |
45 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs568718208 CA2363763 COSM1732210 |
45 | M>V | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754023019 CA2363760 |
46 | F>* | No |
ClinGen ExAC gnomAD |
|
|
CA2363761 rs763941922 |
46 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA352538476 rs1251864755 |
46 | F>L | No |
ClinGen TOPMed |
|
|
CA352538468 rs1317192082 |
47 | K>R | No |
ClinGen TOPMed |
|
|
rs760120112 CA2363759 |
48 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352538405 rs1461772708 |
53 | R>* | No |
ClinGen TOPMed |
|
|
CA352538327 rs1340972697 |
60 | K>R | No |
ClinGen gnomAD |
|
|
CA352538309 rs1454647589 |
62 | K>E | No |
ClinGen gnomAD |
|
|
rs1398215878 CA352538298 |
63 | V>I | No |
ClinGen gnomAD |
|
|
CA73812441 rs373562439 |
68 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs534514808 CA73812467 |
68 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA2363758 rs775039657 |
70 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA352538182 rs1422028846 |
71 | Q>* | No |
ClinGen gnomAD |
|
|
CA352538178 rs1295276006 |
71 | Q>R | No |
ClinGen gnomAD |
|
|
CA352538156 rs1161803180 |
72 | K>R | No |
ClinGen gnomAD |
|
|
CA73812418 rs778611476 |
73 | V>L | No |
ClinGen Ensembl |
|
|
rs587778670 CA2363756 |
76 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs587778670 CA162071 RCV000122038 |
76 | S>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA352538033 rs1464543698 |
79 | L>V | No |
ClinGen TOPMed |
|
|
CA352537994 rs1437217362 |
81 | K>R | No |
ClinGen gnomAD |
|
|
rs1045286391 CA73812397 |
84 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1045286391 CA73812398 |
84 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA73812392 rs948019386 |
87 | R>K | No |
ClinGen TOPMed |
|
|
CA73812384 rs552025497 |
91 | A>V | No |
ClinGen 1000Genomes |
|
|
CA73812371 rs781171183 |
100 | T>I | No |
ClinGen Ensembl |
|
|
CA352537685 rs1479757135 |
101 | P>L | No |
ClinGen TOPMed |
|
|
rs967692998 CA73812361 |
101 | P>S | No |
ClinGen gnomAD |
|
|
rs1285112235 CA352537676 |
103 | P>S | No |
ClinGen TOPMed |
|
|
CA73812348 rs918252164 |
106 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA73812336 rs1012522280 |
108 | L>F | No |
ClinGen Ensembl |
|
|
rs1374704193 CA352537634 |
110 | V>I | No |
ClinGen gnomAD |
|
|
rs1356464887 CA352537505 |
119 | E>Q | No |
ClinGen gnomAD |
|
|
CA352537472 rs1188177969 |
120 | I>M | No |
ClinGen gnomAD |
|
|
rs1321902987 CA352537463 |
121 | G>D | No |
ClinGen gnomAD |
|
|
rs912089138 CA73812331 |
121 | G>S | No |
ClinGen TOPMed |
|
|
CA352537388 rs1366595264 |
126 | T>A | No |
ClinGen gnomAD |
|
|
CA352537378 rs1474691499 |
126 | T>I | No |
ClinGen gnomAD |
|
|
rs550723354 CA73812316 |
130 | S>Y | No |
ClinGen 1000Genomes |
|
|
rs1165951113 CA16040224 |
131 | S>F | No |
ClinGen gnomAD |
|
|
rs953669232 CA73812307 |
132 | P>L | No |
ClinGen TOPMed |
|
|
rs1379102709 CA352537268 |
133 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1004079942 CA73812290 |
135 | S>A | No |
ClinGen Ensembl |
|
|
CA352537193 rs1268579419 |
137 | V>G | No |
ClinGen Ensembl |
|
|
CA73812289 rs886565042 |
137 | V>M | No |
ClinGen gnomAD |
|
|
CA352537094 rs1575819999 |
143 | H>R | No |
ClinGen Ensembl |
|
|
rs749274416 CA73812285 |
145 | K>N | No |
ClinGen TOPMed |
|
|
rs1451896896 CA352537039 |
146 | K>E | No |
ClinGen gnomAD |
|
|
CA352536939 rs1293708012 |
150 | H>R | No |
ClinGen gnomAD |
|
|
rs1289020291 CA352536871 |
154 | R>G | No |
ClinGen TOPMed |
|
|
rs1352862970 CA352536799 |
157 | L>V | No |
ClinGen gnomAD |
|
|
rs994824638 CA73812282 |
158 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352536701 rs1224403595 |
161 | T>R | No |
ClinGen gnomAD |
|
|
CA352536698 rs1375690681 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA352536681 rs1273240614 |
162 | A>V | No |
ClinGen gnomAD |
|
|
CA352536639 rs1436035298 |
164 | A>T | No |
ClinGen gnomAD |
|
|
CA352536516 rs1213559776 |
169 | H>L | No |
ClinGen gnomAD |
|
|
CA73812259 rs1038985708 |
173 | L>S | No |
ClinGen Ensembl |
|
|
CA352536394 rs1418308102 |
176 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352536332 rs1360418212 |
179 | E>G | No |
ClinGen gnomAD |
|
|
RCV000713186 rs1559750451 CA352536295 |
180 | S>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1234107061 CA352536277 |
182 | T>A | No |
ClinGen gnomAD |
|
|
rs942631934 CA73812256 |
183 | V>A | No |
ClinGen Ensembl |
|
|
CA73812252 rs1024933229 |
184 | D>N | No |
ClinGen Ensembl |
|
|
rs757008196 CA2363746 |
185 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA352536196 rs1401928631 |
186 | P>A | No |
ClinGen gnomAD |
|
|
rs906591354 CA73812235 |
187 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352536133 rs1192272615 |
189 | S>F | No |
ClinGen gnomAD |
|
|
rs563907746 CA2363744 |
190 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1270653793 CA352536120 |
190 | P>S | No |
ClinGen gnomAD |
|
|
rs1263797208 CA352536096 |
191 | P>L | No |
ClinGen gnomAD |
|
|
rs1217878686 CA352536091 |
192 | P>S | No |
ClinGen gnomAD |
|
|
rs765963206 CA2363738 |
198 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA352535948 rs1398542713 |
199 | A>V | No |
ClinGen gnomAD |
|
|
rs1417679576 CA352535940 |
200 | T>A | No |
ClinGen TOPMed |
|
|
CA73812196 rs868796097 |
200 | T>I | No |
ClinGen TOPMed |
|
|
rs1460567034 CA352535921 |
201 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763365671 CA73812191 |
202 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363737 rs763365671 |
202 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763365671 CA352535894 |
202 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352535828 rs1448903100 |
206 | A>V | No |
ClinGen Ensembl |
|
|
rs888376502 CA73812180 |
210 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1430967942 CA352535761 |
211 | P>A | No |
ClinGen gnomAD |
|
|
rs368670205 CA2363735 |
212 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292986984 CA352535723 |
213 | A>G | No |
ClinGen TOPMed |
|
|
rs748715138 CA2363734 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777301899 CA2363733 |
216 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73812151 rs752425225 |
217 | T>A | No |
ClinGen gnomAD |
|
|
CA352535625 rs1482249689 |
217 | T>K | No |
ClinGen gnomAD |
|
|
CA352535592 rs1236885387 |
219 | I>V | No |
ClinGen gnomAD |
|
|
CA352535560 rs1235089560 |
222 | L>P | No |
ClinGen TOPMed |
|
|
rs1265222731 CA352535550 |
223 | M>K | No |
ClinGen gnomAD |
|
|
rs1461887229 CA352535553 |
223 | M>V | No |
ClinGen gnomAD |
|
|
CA352535529 rs1217051214 |
224 | A>T | No |
ClinGen gnomAD |
|
|
rs747088254 CA2363731 |
225 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA352535518 rs747088254 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1377575776 CA352535488 |
227 | V>L | No |
ClinGen gnomAD |
|
|
CA352535478 rs1377575776 |
227 | V>L | No |
ClinGen gnomAD |
|
|
rs780263835 CA2363730 |
228 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352535367 rs1452709845 |
232 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA73812128 rs918283160 |
232 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352535355 rs1452709845 |
232 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758605231 CA2363729 |
234 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352535316 rs1328781978 |
234 | A>V | No |
ClinGen gnomAD |
|
|
CA352535295 rs1464806533 |
235 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352535294 rs1464806533 |
235 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352535228 rs1354852343 |
238 | L>R | No |
ClinGen gnomAD |
|
|
rs1172245080 CA352535150 |
241 | P>A | No |
ClinGen gnomAD |
|
|
rs1421879182 CA352535117 |
242 | P>R | No |
ClinGen gnomAD |
|
|
rs1184200918 CA352535074 |
244 | I>V | No |
ClinGen gnomAD |
|
|
CA73812107 rs990452788 |
248 | E>Q | No |
ClinGen Ensembl |
|
|
rs1162661952 CA352534921 |
249 | S>F | No |
ClinGen TOPMed |
|
|
CA352534930 COSM3392434 rs1404541560 |
249 | S>P | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1040670872 CA73812102 |
252 | A>G | No |
ClinGen TOPMed |
|
|
CA352534863 rs1445256311 |
252 | A>T | No |
ClinGen gnomAD |
|
|
CA352534776 rs1559749871 |
254 | T>S | No |
ClinGen Ensembl |
|
|
rs1229892824 CA352534718 |
256 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1308113254 CA352534656 |
258 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352534627 rs1378977369 |
258 | T>I | No |
ClinGen TOPMed |
|
|
CA352534582 rs1480415679 |
260 | S>F | No |
ClinGen gnomAD |
|
|
rs943821633 CA73812093 |
261 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA73812092 rs1035678045 |
262 | S>N | No |
ClinGen Ensembl |
|
|
RCV000122030 rs544730198 CA162047 |
262 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA73812085 rs982335553 |
263 | L>S | No |
ClinGen TOPMed |
|
|
CA352534421 rs1320353083 |
266 | H>D | No |
ClinGen gnomAD |
|
|
rs1384312268 CA352534359 |
268 | T>I | No |
ClinGen gnomAD |
|
|
CA2363728 rs777464814 |
270 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352534274 rs1373568830 |
271 | L>W | No |
ClinGen gnomAD |
|
|
rs1299595121 CA352534221 |
273 | E>K | No |
ClinGen gnomAD |
|
|
rs1575818993 CA352534167 |
275 | A>T | No |
ClinGen Ensembl |
|
|
rs1456190392 CA352534108 |
276 | D>G | No |
ClinGen gnomAD |
|
|
CA352534049 rs1349108254 |
277 | I>T | No |
ClinGen gnomAD |
|
|
CA73812040 rs994898155 |
280 | K>E | No |
ClinGen gnomAD |
|
|
rs994898155 CA352533912 |
280 | K>Q | No |
ClinGen gnomAD |
|
|
CA352533827 rs1205246100 |
282 | E>G | No |
ClinGen TOPMed |
|
|
rs1575818939 CA352533780 |
285 | H>P | No |
ClinGen Ensembl |
|
|
rs1176819692 CA352533750 |
286 | I>V | No |
ClinGen gnomAD |
|
|
rs899226018 CA73812017 |
287 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352533668 rs1575818908 |
289 | D>E | No |
ClinGen Ensembl |
|
|
CA352533660 rs1251495125 |
290 | E>K | No |
ClinGen gnomAD |
|
|
CA352533576 COSM1045499 rs1179868843 |
293 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV000520190 CA73812010 rs915409808 |
294 | D>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1179183570 CA352533556 |
295 | S>G | No |
ClinGen gnomAD |
|
|
rs1487671763 CA352533518 |
296 | S>P | No |
ClinGen gnomAD |
|
|
rs761758668 CA352533497 |
297 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1223812732 CA352533487 |
297 | K>N | No |
ClinGen gnomAD |
|
|
CA73812007 rs761758668 |
297 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1362195525 CA352533456 |
298 | I>M | No |
ClinGen gnomAD |
|
|
CA352533414 rs1169800340 |
300 | L>M | No |
ClinGen TOPMed |
|
|
rs1284559156 CA352533404 |
300 | L>P | No |
ClinGen gnomAD |
|
|
rs555732883 CA73811999 |
303 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA352533308 rs1384724360 |
304 | K>N | No |
ClinGen gnomAD |
|
|
CA2363725 rs534195879 |
304 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352533301 rs1366599019 |
305 | T>A | No |
ClinGen gnomAD |
|
|
CA73811960 rs956929386 |
306 | G>S | No |
ClinGen TOPMed |
|
|
CA352533197 rs1406585106 |
309 | K>E | No |
ClinGen gnomAD |
|
|
rs1358540257 CA352533191 |
309 | K>T | No |
ClinGen gnomAD |
|
|
CA73811959 rs573594314 |
311 | S>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1446042073 CA352533107 |
314 | S>A | No |
ClinGen TOPMed |
|
|
CA352533081 rs1559749430 |
315 | E>G | No |
ClinGen Ensembl |
|
|
CA352533066 rs1158030524 |
316 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352533063 rs1363028179 |
317 | I>V | No |
ClinGen TOPMed |
|
|
CA73811958 rs1007514570 |
319 | L>V | No |
ClinGen gnomAD |
|
|
CA352532987 rs1326993979 |
320 | G>D | No |
ClinGen gnomAD |
|
|
CA73811948 rs754382637 |
324 | D>N | No |
ClinGen Ensembl |
|
|
rs765649664 CA2363719 |
333 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765649664 CA2363718 |
333 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777214141 CA2363716 |
337 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230555956 CA352532680 |
338 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2363714 rs760794263 |
344 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024103793 CA73811830 |
348 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1412997569 CA352532428 |
349 | R>K | No |
ClinGen TOPMed |
|
|
RCV001008208 rs1575818503 |
350 | D>missing | No |
ClinVar dbSNP |
|
|
rs1283598835 CA352532390 |
350 | D>E | No |
ClinGen gnomAD |
|
|
CA352532285 rs1399765540 |
355 | S>P | No |
ClinGen TOPMed |
|
|
rs112268377 CA73811828 |
356 | A>G | No |
ClinGen Ensembl |
|
|
CA2363713 rs775499197 |
357 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA352532159 rs1297433738 |
361 | E>G | No |
ClinGen gnomAD |
|
|
rs1296937706 CA352532143 |
362 | D>H | No |
ClinGen TOPMed |
|
|
CA352532061 rs1382740465 |
366 | P>S | No |
ClinGen gnomAD |
|
|
rs1382740465 CA352532057 |
366 | P>T | No |
ClinGen gnomAD |
|
|
rs1428858409 CA352531962 |
374 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1274949240 CA352531935 |
376 | K>N | No |
ClinGen TOPMed |
|
|
rs761258214 CA73811800 |
379 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2363711 rs772306607 |
379 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352531897 rs1193056929 |
380 | Y>C | No |
ClinGen gnomAD |
|
|
CA352531889 rs1285909011 |
381 | S>A | No |
ClinGen TOPMed |
|
|
CA2363710 rs746121346 |
381 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1064796875 CA16617977 RCV000481870 |
382 | K>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352531860 rs1264545105 |
383 | L>R | No |
ClinGen gnomAD |
|
|
rs1354211496 CA352531869 |
383 | L>V | No |
ClinGen TOPMed |
|
|
CA352531852 rs1460529347 |
384 | E>G | No |
ClinGen gnomAD |
|
|
rs1260717819 CA352531858 |
384 | E>K | No |
ClinGen TOPMed |
|
|
rs1224970719 CA352531845 |
385 | R>* | No |
ClinGen gnomAD |
|
|
rs1012081309 CA352531842 |
385 | R>K | No |
ClinGen TOPMed |
|
|
CA73811783 rs1012081309 |
385 | R>T | No |
ClinGen TOPMed |
|
|
CA352531824 rs1269401183 |
386 | D>E | No |
ClinGen gnomAD |
|
|
CA352531829 rs1315789205 |
386 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352531822 rs1227947168 |
387 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1328098829 CA352531816 |
387 | T>I | No |
ClinGen gnomAD |
|
|
CA352531821 rs1227947168 |
387 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352531810 rs1450528900 |
388 | R>Q | No |
ClinGen gnomAD |
|
|
CA2363709 rs779126757 |
388 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2363708 rs769535379 |
392 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888313435 CA73811759 |
393 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1475982196 CA352531730 |
396 | S>L | No |
ClinGen gnomAD |
|
|
CA2363704 rs374918549 |
401 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1243252406 CA352531697 |
401 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV001093071 CA2363703 rs779483918 |
402 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA352531681 rs1196156010 |
403 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352531638 rs1350669578 |
407 | S>A | No |
ClinGen gnomAD |
|
|
rs1341284759 CA352531637 |
407 | S>C | No |
ClinGen gnomAD |
|
|
CA352531586 rs535540244 |
412 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA73811687 rs535540244 |
412 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363701 rs535540244 |
412 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA73811672 rs889546801 |
413 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352531576 rs889546801 |
413 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1234240400 CA352531582 |
413 | S>P | No |
ClinGen gnomAD |
|
|
CA73811671 rs567935202 |
414 | R>G | No |
ClinGen 1000Genomes |
|
|
rs1382078518 CA352531572 |
414 | R>K | No |
ClinGen gnomAD |
|
|
rs1358117331 CA352531563 |
415 | T>S | No |
ClinGen TOPMed |
|
|
CA352531555 rs1315851590 |
416 | N>D | No |
ClinGen gnomAD |
|
|
rs1454697715 CA352531536 |
417 | L>F | No |
ClinGen gnomAD |
|
|
rs867368102 CA352531528 |
418 | S>C | No |
ClinGen gnomAD |
|
|
rs867368102 CA73811657 |
418 | S>F | No |
ClinGen gnomAD |
|
|
CA352531495 rs915441021 |
421 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399084180 CA352531502 |
421 | R>W | No |
ClinGen gnomAD |
|
|
rs1278528667 CA352531469 |
424 | R>* | No |
ClinGen Ensembl |
|
|
rs1424607930 CA352531466 |
424 | R>Q | No |
ClinGen gnomAD |
|
|
CA73811630 rs973506863 |
425 | S>F | No |
ClinGen Ensembl |
|
|
CA352531454 rs1184046423 |
426 | H>Y | No |
ClinGen TOPMed |
|
|
CA352531434 rs1386461954 |
427 | Y>N | No |
ClinGen gnomAD |
|
|
CA73811629 rs963471471 |
428 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs963471471 CA352531410 |
428 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
RCV000762112 rs1575817869 |
429 | D>* | No |
ClinVar dbSNP |
|
|
CA352531376 rs1435980110 |
430 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA73811622 rs1017636782 |
432 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1045509 CA2363699 rs762208680 |
432 | R>H | NS endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2363697 rs764693453 |
433 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352531280 rs1452527873 |
437 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1221591455 CA352531265 |
437 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1293916143 CA352531215 |
441 | R>G | No |
ClinGen gnomAD |
|
|
CA352531210 rs1365305042 |
441 | R>Q | No |
ClinGen gnomAD |
|
|
CA352531204 rs1376917645 |
442 | E>Q | No |
ClinGen TOPMed |
|
|
rs890436153 CA352531169 |
443 | R>S | No |
ClinGen Ensembl |
|
|
rs1348641495 CA352531167 |
444 | T>A | No |
ClinGen gnomAD |
|
|
rs935586454 CA352531149 |
445 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA73811574 rs998524208 |
447 | S>F | No |
ClinGen gnomAD |
|
|
RCV000713181 CA162068 RCV000122037 rs564020755 |
448 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA352531107 rs1245212934 |
448 | R>W | No |
ClinGen TOPMed |
|
|
rs747297425 CA73811560 |
449 | P>L | No |
ClinGen Ensembl |
|
|
CA73811562 rs902395542 |
449 | P>T | No |
ClinGen Ensembl |
|
|
rs1042247978 CA73811555 |
451 | T>A | No |
ClinGen Ensembl |
|
|
rs202016239 CA73811537 |
451 | T>R | No |
ClinGen Ensembl |
|
|
rs1559748372 CA352531058 |
452 | D>G | No |
ClinGen Ensembl |
|
|
rs924158634 CA73811529 |
456 | R>G | No |
ClinGen TOPMed |
|
|
CA73811524 rs777476264 |
456 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1406617602 CA352530942 |
459 | S>A | No |
ClinGen gnomAD |
|
|
CA352530890 rs1197061112 |
462 | E>G | No |
ClinGen TOPMed |
|
|
rs1470973719 CA352530827 |
465 | Y>F | No |
ClinGen gnomAD |
|
|
rs759689866 CA2363693 |
471 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771203643 CA352530745 |
472 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283676464 CA352530717 |
474 | S>P | No |
ClinGen gnomAD |
|
|
CA73811471 rs563150022 |
476 | H>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1328928245 CA352530690 |
476 | H>L | No |
ClinGen TOPMed |
|
|
rs780072755 COSM3380730 CA2363686 |
478 | S>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2363684 rs1403870429 |
480 | Y>C | No |
ClinGen TOPMed |
|
|
rs1346555298 CA352530587 |
483 | L>V | No |
ClinGen gnomAD |
|
|
rs1305422724 CA352530561 |
485 | T>A | No |
ClinGen gnomAD |
|
|
VAR_078707 rs757781388 CA2363683 |
488 | Y>C | found in a patient with autism; unknown pathological significance [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA2363682 rs749964774 |
491 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1559748132 CA352530415 |
494 | D>N | No |
ClinGen Ensembl |
|
|
CA352530401 rs1432654253 |
495 | C>S | No |
ClinGen Ensembl |
|
|
CA73811401 rs973577177 |
495 | C>Y | No |
ClinGen TOPMed |
|
|
rs544331072 CA352530318 |
498 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220399210 CA352530321 |
498 | E>V | No |
ClinGen TOPMed |
|
|
rs756518934 CA2363677 |
502 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA73811323 rs986199418 |
504 | M>T | No |
ClinGen gnomAD |
|
|
CA2363676 rs753100818 |
504 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1216851775 CA352530134 |
509 | K>E | No |
ClinGen TOPMed |
|
|
CA2363674 rs574099059 |
514 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1019451348 CA73811285 |
515 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA352530040 rs1019451348 |
515 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1361834704 CA352529980 |
519 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2363671 rs763211343 |
519 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs377393336 CA2363670 |
520 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432277979 CA352529967 |
521 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432277979 CA352529968 |
521 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2363669 rs768299814 |
525 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA352529924 rs1335620465 |
526 | A>T | No |
ClinGen gnomAD |
|
|
CA352529899 rs1168018388 |
528 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1427769897 CA352529886 |
529 | R>K | No |
ClinGen gnomAD |
|
|
rs527381545 CA73811230 |
530 | C>S | No |
ClinGen Ensembl |
|
|
rs374775442 CA2363666 |
531 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA352529841 rs1301833521 |
533 | P>S | No |
ClinGen TOPMed |
|
|
rs1241396966 CA352529835 |
534 | P>A | No |
ClinGen gnomAD |
|
|
rs1399887416 CA352529829 |
534 | P>H | No |
ClinGen TOPMed |
|
|
rs1399887416 CA352529827 |
534 | P>L | No |
ClinGen TOPMed |
|
|
CA2363664 RCV000992923 rs778603109 |
535 | N>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA352529821 rs756943490 |
535 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363661 rs777512115 |
535 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2363662 rs777512115 |
535 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2363663 rs756943490 |
535 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216856053 CA352529790 |
538 | G>R | No |
ClinGen gnomAD |
|
|
CA2363657 rs755551165 |
539 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2363658 rs767907420 |
539 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs201756643 CA2363656 |
540 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144677816 CA2363654 |
541 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461245661 CA352529751 |
543 | S>T | No |
ClinGen gnomAD |
|
|
CA2363652 rs765512793 |
545 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA352529692 rs1422694442 |
548 | H>R | No |
ClinGen gnomAD |
|
|
CA352529672 rs1183033223 |
550 | S>G | No |
ClinGen gnomAD |
|
|
rs1445389349 CA352529668 |
550 | S>N | No |
ClinGen gnomAD |
|
|
CA352529648 rs1258519174 |
552 | A>T | No |
ClinGen gnomAD |
|
|
rs1175719412 CA352529632 |
553 | S>F | No |
ClinGen gnomAD |
|
|
rs1010773470 CA73811181 |
554 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs745846357 CA2363649 |
557 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363647 rs774448516 |
557 | S>F | No |
ClinGen ExAC |
|
|
CA352529578 rs1246054299 |
559 | L>P | No |
ClinGen gnomAD |
|
|
CA2363644 rs777231957 |
563 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2363642 rs748432550 |
564 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755852190 CA2363643 |
564 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA73811127 rs1046489375 |
565 | K>R | No |
ClinGen gnomAD |
|
|
rs1046489375 CA352529524 |
565 | K>T | No |
ClinGen gnomAD |
|
|
rs1425320029 CA352529436 |
572 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA73811118 rs919540168 |
572 | S>P | No |
ClinGen TOPMed |
|
|
rs1425320029 CA352529438 |
572 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA73811112 rs1037901055 |
573 | F>S | No |
ClinGen Ensembl |
|
|
rs755358803 CA2363640 |
575 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157124836 CA352529398 |
576 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752022280 CA2363639 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA352529380 rs1184775247 |
577 | E>D | No |
ClinGen gnomAD |
|
|
rs558486080 CA2363636 |
579 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417791379 CA352529319 |
583 | K>E | No |
ClinGen TOPMed |
|
|
CA352529279 rs1386257292 |
586 | H>R | No |
ClinGen TOPMed |
|
|
CA352529264 rs1299511576 |
587 | S>Y | No |
ClinGen TOPMed |
|
|
rs762131763 CA2363634 |
589 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs1317109866 CA352529187 |
593 | P>R | No |
ClinGen gnomAD |
|
|
rs774362891 CA2363631 |
597 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759435874 CA2363632 |
597 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2363633 rs759435874 |
597 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303623813 CA352529119 |
599 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA73811082 rs949650635 |
602 | M>R | No |
ClinGen TOPMed |
|
|
CA352529032 rs1575816576 |
605 | K>N | No |
ClinGen Ensembl |
|
|
CA352529033 rs1382756465 |
605 | K>T | No |
ClinGen gnomAD |
|
|
CA352529028 rs1287155457 |
606 | N>D | No |
ClinGen gnomAD |
|
|
CA352528613 rs1345996475 |
607 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352528614 rs1345996475 |
607 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768946699 CA2363624 |
614 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2363626 rs780739486 |
614 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs780739486 CA2363625 |
614 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435404664 CA352528558 |
615 | P>L | No |
ClinGen gnomAD |
|
|
rs747391146 CA2363623 |
616 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747391146 CA352528557 |
616 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363621 rs758973573 |
617 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2363622 rs372521251 |
617 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM480181 CA2363620 rs750437096 |
618 | S>* | kidney breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA352528542 rs1398723100 |
619 | N>D | No |
ClinGen TOPMed |
|
|
CA2363618 rs148810823 |
620 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352528532 rs1322499901 |
620 | R>L | No |
ClinGen gnomAD |
|
|
rs1235190689 CA352528509 |
623 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352528508 rs1324611364 |
624 | S>T | No |
ClinGen gnomAD |
|
|
rs923379270 CA73811024 |
625 | P>H | No |
ClinGen Ensembl |
|
|
rs1291887355 CA352528495 |
626 | T>P | No |
ClinGen TOPMed |
|
|
CA352528493 rs1294840523 |
626 | T>S | No |
ClinGen gnomAD |
|
|
rs967358278 CA73811011 |
630 | L>V | No |
ClinGen Ensembl |
|
|
COSM4158077 CA2363612 rs763035822 |
631 | D>E | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs751456809 CA2363614 |
631 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773046699 CA2363611 |
634 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1375222452 CA352528424 |
637 | K>E | No |
ClinGen TOPMed |
|
|
CA2363609 COSM1045500 rs761234986 |
639 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs952813382 CA73810981 |
640 | F>S | No |
ClinGen TOPMed |
|
|
rs1428527882 CA352528393 |
641 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2363607 rs768359461 |
646 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780434002 CA2363605 |
647 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA352528315 rs1458709475 |
652 | L>V | No |
ClinGen TOPMed |
|
|
rs778937897 CA73810925 |
654 | S>P | No |
ClinGen Ensembl |
|
|
rs972544011 CA73810913 |
657 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM1726900 CA2363603 rs746332658 |
660 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs146562413 CA73810885 |
662 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183408470 CA352528239 |
663 | L>V | No |
ClinGen TOPMed |
|
|
rs757294853 CA2363601 |
664 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363600 rs749340235 |
667 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1423191971 CA352528203 |
668 | P>A | No |
ClinGen TOPMed |
|
|
CA73810834 rs1008589604 |
669 | I>T | No |
ClinGen TOPMed |
|
|
CA352528190 rs1394795747 |
670 | E>G | No |
ClinGen gnomAD |
|
|
CA2363597 rs568134733 |
675 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363596 rs766229574 |
677 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352528103 rs1189208237 |
680 | E>G | No |
ClinGen gnomAD |
|
|
CA352528072 rs1249594991 |
683 | L>V | No |
ClinGen gnomAD |
|
|
CA352528063 rs1234726555 |
684 | A>T | No |
ClinGen gnomAD |
|
|
CA352528039 rs1303815832 |
686 | F>L | No |
ClinGen TOPMed |
|
|
rs761377537 CA2363592 |
688 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA352528021 rs761377537 |
688 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA352527999 rs1289576507 |
690 | K>R | No |
ClinGen gnomAD |
|
|
rs1358821524 CA352527965 |
693 | A>G | No |
ClinGen gnomAD |
|
|
rs1358821524 CA352527961 |
693 | A>V | No |
ClinGen gnomAD |
|
|
CA352527936 rs1284939260 |
696 | M>V | No |
ClinGen gnomAD |
|
|
CA2363589 rs760367394 COSM345530 |
698 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2363590 rs763707504 |
698 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2363587 rs368132877 |
699 | D>G | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA352527894 rs368132877 |
699 | D>V | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
CA352527885 rs1328580846 |
700 | D>A | No |
ClinGen gnomAD |
|
|
CA352527880 rs775142324 |
700 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352527865 rs1372945920 |
702 | V>M | No |
ClinGen gnomAD |
|
|
rs1301843971 CA352527842 |
704 | G>E | No |
ClinGen gnomAD |
|
|
rs552010664 CA2363583 |
705 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746219041 CA352527837 |
705 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552010664 CA352527831 |
705 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352527807 rs1362910690 |
707 | L>F | No |
ClinGen gnomAD |
|
|
rs200185785 CA73810704 |
708 | S>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA352527799 rs200185785 |
708 | S>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA73810694 rs1046543806 |
710 | L>S | No |
ClinGen TOPMed |
|
|
rs1425661679 CA352527765 |
712 | K>E | No |
ClinGen TOPMed |
|
|
rs1478213869 CA352527753 |
713 | A>T | No |
ClinGen TOPMed |
|
|
rs748343070 CA2363578 |
715 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2363577 rs781569078 |
716 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2363575 rs376303182 |
719 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352527649 rs1348798660 |
722 | Q>P | No |
ClinGen gnomAD |
|
|
rs1229325454 CA352527568 |
728 | K>E | No |
ClinGen gnomAD |
|
|
CA2363573 rs759927194 |
730 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933495344 CA73810622 |
731 | D>Y | No |
ClinGen Ensembl |
|
|
CA73810617 rs923377367 |
734 | D>A | No |
ClinGen gnomAD |
|
|
rs775054001 CA2363570 |
735 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA352527464 rs1324928449 |
735 | T>I | No |
ClinGen gnomAD |
|
|
rs767089221 CA2363569 |
737 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539008365 CA73810604 |
739 | H>R | No |
ClinGen Ensembl |
|
|
CA352527215 rs1341711015 |
746 | F>L | No |
ClinGen TOPMed |
|
|
rs771436044 CA352527201 |
747 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs749711127 CA2363565 |
749 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1248447305 CA352527165 |
750 | E>G | No |
ClinGen gnomAD |
|
|
CA73810548 rs547767170 |
750 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283760445 CA352527153 |
751 | P>H | No |
ClinGen gnomAD |
|
|
rs1283760445 CA352527152 |
751 | P>R | No |
ClinGen gnomAD |
|
|
CA2363562 rs115788094 |
751 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs931275594 CA73810480 |
755 | P>R | No |
ClinGen TOPMed |
|
|
CA352527107 rs1336807817 |
755 | P>S | No |
ClinGen TOPMed |
|
|
rs1471812761 CA352527090 |
756 | H>L | No |
ClinGen gnomAD |
|
|
rs778626356 CA2363559 |
758 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs200479097 CA162029 RCV000122024 |
759 | K>E | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
COSM1581662 rs115476851 CA2363558 |
760 | L>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1368899673 CA352527026 |
761 | M>T | No |
ClinGen gnomAD |
|
|
rs1427956806 CA352527002 |
763 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1427956806 CA352527005 |
763 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA162101 rs587778675 RCV000122048 |
766 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs755560393 CA2363557 |
766 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352526938 rs9311404 |
768 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2363555 rs751928495 |
769 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs116251336 CA2363553 |
773 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363551 rs770481865 |
775 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA352526831 rs1433046877 |
777 | E>D | No |
ClinGen TOPMed |
|
|
rs754908370 CA73810398 |
779 | V>L | No |
ClinGen Ensembl |
|
|
CA352526806 rs1203428501 |
780 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1313153861 CA352526792 |
781 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1313153861 CA352526791 |
781 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747153225 CA2363547 |
782 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1272088356 CA352526776 |
783 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs780351699 CA2363546 |
786 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2363545 rs770560635 |
787 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA73810336 rs986626620 |
789 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2363543 rs372386788 |
791 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352526669 rs1448411812 |
793 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1168186509 CA352526637 |
795 | C>F | No |
ClinGen gnomAD |
|
|
rs1360708174 CA352526644 |
795 | C>R | No |
ClinGen gnomAD |
|
|
rs1025206273 CA73810318 |
796 | T>I | No |
ClinGen Ensembl |
|
|
CA2363540 rs367547253 |
799 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2363539 rs200127446 |
801 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352526574 rs1241448462 |
801 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1451479186 CA352526577 |
801 | N>Y | No |
ClinGen gnomAD |
|
|
CA73810254 rs769273671 |
802 | P>R | No |
ClinGen Ensembl |
|
|
rs1226560181 CA352526536 |
805 | C>Y | No |
ClinGen gnomAD |
|
|
CA352526510 rs1239610142 |
807 | S>C | No |
ClinGen gnomAD |
|
|
CA73810235 rs1015887716 |
811 | N>D | No |
ClinGen TOPMed |
|
|
CA2363535 rs750888033 |
812 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2363534 rs765813019 |
813 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370885797 CA2363533 |
814 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229889888 CA352526460 |
814 | P>T | No |
ClinGen gnomAD |
|
|
rs375501235 CA2363531 |
816 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363530 rs115023083 |
817 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352526430 rs1296217973 |
817 | M>V | No |
ClinGen gnomAD |
|
|
rs772334379 CA352526416 |
818 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182050321 CA73810171 |
819 | I>V | No |
ClinGen 1000Genomes |
|
|
CA2363528 rs749077434 |
822 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406422286 CA352526352 |
824 | F>V | No |
ClinGen TOPMed |
|
|
rs773031107 CA2363527 |
826 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA352526300 rs1383483450 |
828 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2363525 rs747985166 |
836 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA352526188 rs1575814863 |
839 | R>K | No |
ClinGen Ensembl |
|
|
CA2363522 rs746587896 |
843 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA73810109 rs201639149 |
845 | S>* | No |
ClinGen 1000Genomes |
|
|
rs1253096918 CA352526114 |
846 | K>E | No |
ClinGen gnomAD |
|
|
rs779569922 CA2363521 |
846 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs376422656 CA2363518 |
849 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1222926375 CA352526064 |
850 | E>A | No |
ClinGen gnomAD |
|
|
rs1350898375 CA352526060 |
850 | E>D | No |
ClinGen gnomAD |
|
|
rs946121334 CA73810045 |
851 | E>Q | No |
ClinGen Ensembl |
|
|
CA2363516 rs373313188 |
852 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272627601 CA352526000 |
855 | S>R | No |
ClinGen TOPMed |
|
|
rs1341456599 CA352525981 |
857 | G>A | No |
ClinGen TOPMed |
|
|
rs767694898 CA352525984 |
857 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363513 rs767694898 |
857 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA162032 RCV000122025 rs587778669 |
859 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352525949 rs1292988403 |
860 | S>I | No |
ClinGen gnomAD |
|
|
CA73810027 rs914619858 |
862 | A>V | No |
ClinGen Ensembl |
|
|
CA73810017 rs768463720 |
863 | S>F | No |
ClinGen Ensembl |
|
|
CA2363511 rs774577710 |
866 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180147063 CA352525895 |
866 | H>Y | No |
ClinGen TOPMed |
|
|
rs1472442239 CA352525884 |
867 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157218647 CA352525885 |
867 | F>V | No |
ClinGen gnomAD |
|
|
CA352525833 rs1479731149 |
871 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747990258 CA2363510 |
872 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs747990258 CA352525818 |
872 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA73810011 rs937315949 |
873 | P>L | No |
ClinGen Ensembl |
|
|
rs779894694 CA2363508 |
874 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352525806 rs1191265072 |
874 | I>V | No |
ClinGen gnomAD |
|
|
CA2363507 rs746474322 |
875 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA162080 RCV000122041 rs587778671 |
878 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs145246350 CA2363505 |
879 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA73809947 rs369914066 |
884 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352525697 rs1344783832 |
886 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745481079 CA2363504 |
886 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1273088485 CA352525684 |
888 | P>S | No |
ClinGen gnomAD |
|
|
rs1194789958 CA352525670 |
890 | I>V | No |
ClinGen gnomAD |
|
|
rs757635668 CA2363502 |
892 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352525613 rs1287296292 |
895 | L>V | No |
ClinGen gnomAD |
|
|
rs1339462307 CA352525601 |
896 | T>S | No |
ClinGen gnomAD |
|
|
CA2363501 rs754282648 |
897 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352525589 rs1161810683 |
897 | L>P | No |
ClinGen gnomAD |
|
|
rs1194240525 CA352525547 |
901 | G>E | No |
ClinGen TOPMed |
|
|
CA2363499 rs757476376 |
901 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767535546 CA352525536 |
902 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs58906143 CA352525544 |
902 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1369910266 CA352525514 |
904 | T>I | No |
ClinGen gnomAD |
|
|
rs587778676 RCV000122050 CA162107 |
905 | S>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA73809896 rs556290891 |
907 | V>I | No |
ClinGen Ensembl |
|
|
CA73809895 rs148490530 |
908 | L>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs148490530 CA73809892 |
908 | L>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1256470239 CA352525483 |
908 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352525465 rs1305740068 |
910 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA352525451 rs1396372237 |
911 | V>L | No |
ClinGen TOPMed |
|
|
CA352525423 rs768459098 |
914 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2363492 rs768459098 |
914 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553700642 RCV000481244 |
915 | K>missing | No |
ClinVar dbSNP |
|
|
CA73809861 rs941629399 |
915 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA73809868 rs941629399 |
915 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs760615177 CA2363491 |
917 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1173628730 CA352525354 |
919 | E>G | No |
ClinGen gnomAD |
|
|
rs1356564703 CA352525361 |
919 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1015959894 CA73809841 |
923 | H>Y | No |
ClinGen Ensembl |
|
|
rs1468000157 CA352525275 |
924 | A>S | No |
ClinGen gnomAD |
|
|
CA73809840 rs146058926 |
924 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1449614494 CA352525241 |
926 | K>R | No |
ClinGen gnomAD |
|
|
CA352525197 rs888768344 |
929 | I>L | No |
ClinGen gnomAD |
|
|
rs1441595298 CA352525193 |
929 | I>T | No |
ClinGen gnomAD |
|
|
CA73809830 rs888768344 |
929 | I>V | No |
ClinGen gnomAD |
|
|
rs770681498 CA2363487 |
931 | E>G | No |
ClinGen ExAC |
|
|
CA2363488 rs368973698 |
931 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778247125 CA2363486 |
932 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1173677205 CA352525109 |
935 | D>H | No |
ClinGen Ensembl |
|
|
CA352525111 rs1173677205 |
935 | D>N | No |
ClinGen Ensembl |
|
|
CA2363484 rs753162692 |
936 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781674299 CA2363483 |
937 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1024019408 CA73809781 |
938 | D>N | No |
ClinGen TOPMed |
|
|
RCV000122044 CA162089 rs587778672 |
942 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763288798 CA2363479 |
944 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189906004 CA352524967 |
945 | S>P | No |
ClinGen gnomAD |
|
|
rs750635158 CA2363478 |
947 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2363477 rs763914278 |
949 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363475 rs372092336 |
950 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA73809725 rs372092336 |
950 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2363473 rs116474867 |
951 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352524880 rs1559744843 |
951 | N>S | No |
ClinGen Ensembl |
|
|
rs1250914215 CA352524856 |
952 | N>K | No |
ClinGen gnomAD |
|
|
rs774041503 CA352524803 |
956 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774041503 CA2363472 |
956 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352524811 rs1378974840 |
956 | G>R | No |
ClinGen TOPMed |
|
|
CA2363470 rs748920060 |
958 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748571014 CA2363468 |
959 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2363469 rs777321885 |
959 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA352524706 rs1349028638 |
961 | E>D | No |
ClinGen gnomAD |
|
|
CA352524701 rs1288231134 |
962 | A>T | No |
ClinGen gnomAD |
|
|
CA73809684 rs946193486 |
964 | E>G | No |
ClinGen Ensembl |
|
|
rs1575813756 CA352524664 |
964 | E>Q | No |
ClinGen Ensembl |
|
|
CA2363466 rs781662505 |
965 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs939989327 CA73809676 |
971 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2363464 rs751617319 |
972 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363463 rs751617319 |
972 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390921555 CA352524557 |
973 | R>G | No |
ClinGen gnomAD |
|
|
rs780135291 CA2363462 |
974 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs758441915 CA2363461 |
975 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2363459 rs115097110 |
976 | R>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA73809627 rs115097110 |
976 | R>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1410996770 CA352524508 |
976 | R>K | No |
ClinGen gnomAD |
|
|
rs1266756746 CA352524401 |
983 | E>A | No |
ClinGen gnomAD |
|
|
rs1266756746 COSM1423573 CA352524400 |
983 | E>G | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2363457 rs765395599 |
984 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760501131 CA2363456 |
985 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1211878184 CA352524363 |
986 | E>G | No |
ClinGen gnomAD |
|
|
rs1559744598 CA352524347 |
987 | G>E | No |
ClinGen Ensembl |
|
|
CA352524298 rs1211480425 |
990 | V>A | No |
ClinGen gnomAD |
|
|
rs1054527589 CA352524262 |
993 | S>C | No |
ClinGen TOPMed |
|
|
CA16040223 rs1054527589 |
993 | S>F | No |
ClinGen TOPMed |
|
|
rs1435057121 CA352524224 |
995 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1455286567 CA352524175 |
999 | V>I | No |
ClinGen gnomAD |
|
|
COSM3696120 rs200816574 CA73809572 |
1001 | S>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs184493846 CA2363446 |
1002 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352524090 rs1458676359 |
1004 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352524028 rs1559744480 |
1009 | M>V | No |
ClinGen Ensembl |
|
|
CA352523997 rs1171936694 |
1010 | E>D | No |
ClinGen gnomAD |
|
|
CA352524003 rs1422889241 |
1010 | E>G | No |
ClinGen gnomAD |
|
|
CA2363442 rs747477368 |
1015 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169355620 CA352523885 |
1018 | A>V | No |
ClinGen Ensembl |
|
|
CA73809508 rs374159100 |
1020 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs1046111474 CA73809503 |
1021 | C>Y | No |
ClinGen gnomAD |
|
|
rs1209681501 CA352523840 |
1022 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs949335845 CA73809484 |
1023 | S>C | No |
ClinGen Ensembl |
|
|
rs542200700 CA73809480 |
1028 | P>S | No |
ClinGen 1000Genomes |
|
|
CA73809473 rs1024384980 |
1029 | E>D | No |
ClinGen TOPMed |
|
|
CA73809476 rs55704515 |
1029 | E>K | No |
ClinGen Ensembl |
|
|
rs991283507 CA73809470 |
1030 | I>S | No |
ClinGen TOPMed |
|
|
CA352523746 rs1440524307 |
1031 | V>A | No |
ClinGen TOPMed |
|
|
CA352523715 rs1379635717 |
1035 | H>D | No |
ClinGen TOPMed |
|
|
CA2363438 rs115790187 |
1038 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352523678 rs1241292221 |
1038 | Y>H | No |
ClinGen TOPMed |
|
|
CA2363437 rs752515394 |
1039 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352523649 rs1306690438 |
1040 | G>D | No |
ClinGen TOPMed |
|
|
CA2363436 rs540694850 |
1041 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352523635 rs1315689255 |
1042 | S>P | No |
ClinGen TOPMed |
|
|
rs1320811857 CA352523603 |
1044 | S>C | No |
ClinGen gnomAD |
|
|
RCV000122028 rs199890800 RCV000713184 CA162041 |
1046 | N>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199890800 CA73809451 |
1046 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762521732 CA2363434 |
1047 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766239670 CA2363435 |
1047 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs587778674 CA162095 RCV000122046 |
1048 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2363433 rs373744856 |
1049 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2363432 rs373744856 |
1049 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA73809386 rs772890749 |
1054 | T>A | No |
ClinGen gnomAD |
|
|
CA2363431 rs761407419 |
1055 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776300341 CA2363430 |
1056 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs189671317 CA2363428 |
1057 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352523480 rs189671317 |
1057 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA73809381 rs764760126 |
1058 | D>N | No |
ClinGen Ensembl |
|
|
CA2363427 rs558262802 |
1059 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352523449 rs1225457680 |
1060 | S>G | No |
ClinGen gnomAD |
|
|
rs953217480 CA73809351 |
1060 | S>N | No |
ClinGen gnomAD |
|
|
CA352523445 rs953217480 |
1060 | S>T | No |
ClinGen gnomAD |
|
|
CA352523421 rs1397050140 |
1062 | P>Q | No |
ClinGen TOPMed |
|
|
CA2363425 rs745925708 |
1065 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352523350 rs1302035546 |
1069 | V>A | No |
ClinGen gnomAD |
|
|
CA352523308 rs1559744031 |
1074 | K>E | No |
ClinGen Ensembl |
|
|
rs757432733 CA2363423 |
1074 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778145277 CA2363422 |
1079 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2363420 rs766309787 |
1081 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1447738037 CA352523231 |
1081 | E>K | No |
ClinGen TOPMed |
|
|
rs764499297 CA2363419 |
1082 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363417 rs764690431 |
1083 | T>A | No |
ClinGen ExAC |
|
|
CA352523166 rs1471434383 |
1086 | C>F | No |
ClinGen gnomAD |
|
|
CA352523153 rs1260151759 |
1087 | S>F | No |
ClinGen gnomAD |
|
|
CA352523157 rs1260151759 |
1087 | S>Y | No |
ClinGen gnomAD |
|
|
rs536163785 CA2363412 |
1089 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763434646 CA2363413 |
1089 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363410 rs772606528 |
1090 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352523120 rs1206755591 |
1091 | S>G | No |
ClinGen gnomAD |
|
|
rs200216964 CA73809235 |
1094 | Y>C | No |
ClinGen gnomAD |
|
|
CA2363407 rs771066357 |
1097 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs547630365 CA73809186 |
1101 | W>* | No |
ClinGen 1000Genomes |
|
|
rs746798365 CA2363403 |
1102 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2363400 rs750263551 |
1106 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2363401 rs750263551 |
1106 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1474818213 CA352522913 |
1107 | E>D | No |
ClinGen TOPMed |
|
|
rs778838574 CA2363399 |
1107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2363398 rs756750206 |
1107 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753416941 CA2363397 |
1108 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352522876 rs1178367705 |
1111 | H>P | No |
ClinGen gnomAD |
|
|
rs760289594 CA2363395 |
1111 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352522842 rs1170003106 |
1114 | E>K | No |
ClinGen TOPMed |
|
|
CA352522820 COSM1225357 rs1264445809 |
1115 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA352522826 rs1353181454 |
1115 | E>G | No |
ClinGen TOPMed |
|
|
CA73809117 rs775822353 |
1116 | K>E | No |
ClinGen gnomAD |
|
|
CA73809113 rs950088283 |
1122 | S>N | No |
ClinGen Ensembl |
|
|
CA73809109 rs899892285 |
1123 | K>R | No |
ClinGen TOPMed |
|
|
CA352522722 rs1317254716 |
1124 | A>P | No |
ClinGen gnomAD |
|
|
rs767731111 CA2363393 |
1125 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774939342 CA2363391 |
1126 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759947163 CA2363392 |
1126 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771624180 CA2363390 |
1128 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2363389 rs570936794 |
1129 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293115178 CA352522665 |
1130 | K>Q | No |
ClinGen gnomAD |
|
|
CA73809057 rs1036217503 |
1134 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352522609 rs1036217503 |
1134 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1305587765 CA352522584 |
1136 | G>R | No |
ClinGen TOPMed |
|
|
rs1161942915 RCV000905859 CA352522510 |
1142 | E>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA2363384 rs771866928 |
1144 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191319440 CA352522466 |
1146 | T>I | No |
ClinGen gnomAD |
|
|
CA73809034 rs115323681 |
1147 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs141227139 CA2363382 |
1148 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2363381 rs757222335 |
1149 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA352522392 rs1417600727 |
1153 | I>M | No |
ClinGen TOPMed |
|
|
rs200491606 CA352522397 |
1153 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200491606 CA2363380 |
1153 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2363379 rs777213195 |
1154 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs6767907 CA352522368 |
1155 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6767907 CA352522365 |
1155 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1575812291 CA352522371 |
1155 | N>T | No |
ClinGen Ensembl |
|
|
rs975806896 CA73809017 |
1156 | R>C | No |
ClinGen Ensembl |
|
|
COSM1045484 CA2363377 rs752223546 |
1156 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2363374 rs752037107 |
1161 | S>C | No |
ClinGen ExAC TOPMed |
|
|
CA352522308 rs752037107 |
1161 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA73808987 rs1010506824 |
1162 | H>R | No |
ClinGen Ensembl |
|
|
rs1269036911 CA352522291 |
1163 | P>A | No |
ClinGen TOPMed |
|
|
rs1359461709 CA352522266 |
1165 | S>N | No |
ClinGen TOPMed |
|
|
rs763506017 CA2363371 |
1166 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1389881036 CA352522240 |
1167 | G>E | No |
ClinGen gnomAD |
|
|
CA2363369 rs765164967 |
1173 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA73808964 rs748175674 |
1175 | D>G | No |
ClinGen Ensembl |
|
|
rs761968547 CA2363368 |
1178 | S>Y | No |
ClinGen ExAC |
|
|
rs776708071 CA2363367 |
1182 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346882059 CA352522027 |
1186 | S>L | No |
ClinGen TOPMed |
|
|
rs1208712406 CA352522019 |
1187 | E>G | No |
ClinGen TOPMed |
|
|
rs1187563928 CA352522024 |
1187 | E>K | No |
ClinGen gnomAD |
|
|
CA2363366 rs768992405 |
1189 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA73808934 rs1002109417 |
1190 | V>M | No |
ClinGen gnomAD |
|
|
CA352521964 rs1559742969 |
1192 | A>T | No |
ClinGen Ensembl |
|
|
rs770731608 CA2363363 |
1196 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352521873 rs1447697624 |
1200 | E>G | No |
ClinGen TOPMed |
|
|
CA2363361 rs777689107 |
1202 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2363357 rs747750475 |
1204 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2363358 rs554338477 |
1204 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352521825 rs780702915 |
1205 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363353 rs766811216 |
1208 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA73808872 rs1024800098 |
1209 | F>V | No |
ClinGen TOPMed |
|
|
CA352521768 rs1419653252 |
1210 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352521754 rs1165214835 |
1211 | D>G | No |
ClinGen gnomAD |
|
|
CA2363352 rs758840930 |
1213 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201177499 CA73808850 |
1214 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1575811719 RCV000998067 CA352521706 |
1216 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761799105 CA2363349 |
1217 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2363350 rs765834098 |
1217 | W>R | No |
ClinGen ExAC TOPMed |
|
|
rs192144707 CA2363348 |
1219 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775717127 CA2363345 |
1221 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272549575 CA352521636 |
1222 | F>S | No |
ClinGen gnomAD |
|
|
CA352521619 rs1204601057 |
1223 | Q>H | No |
ClinGen gnomAD |
|
|
rs201973823 CA73808826 |
1223 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA352521591 rs1253296900 |
1226 | P>T | No |
ClinGen gnomAD |
|
|
CA352521568 RCV000520933 rs1294397889 COSM3427659 |
1228 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA2363341 rs769835535 |
1233 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363340 rs747580174 |
1235 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA352521481 rs1398117976 |
1236 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352521456 rs1206648592 |
1238 | S>F | No |
ClinGen gnomAD |
|
|
CA73808803 rs1036962729 |
1241 | C>S | No |
ClinGen Ensembl |
|
|
rs768083138 CA2363338 |
1244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA73808789 rs554290065 |
1245 | H>R | No |
ClinGen 1000Genomes |
|
|
rs1471563665 CA352521362 |
1246 | V>G | No |
ClinGen gnomAD |
|
|
CA2363337 rs746595387 |
1248 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73808777 rs955793443 |
1248 | G>R | No |
ClinGen TOPMed |
|
|
CA2363336 rs779867877 |
1250 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA352521307 rs1559742482 |
1251 | S>L | No |
ClinGen Ensembl |
|
|
rs146583143 CA73808747 |
1252 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779260778 CA2363333 |
1259 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM308481 rs779260778 CA352521218 |
1259 | G>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2363332 rs536512389 |
1261 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363331 rs536512389 |
1261 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352521202 rs1274173682 |
1261 | D>N | No |
ClinGen gnomAD |
|
|
rs1288288362 CA352521183 |
1262 | F>S | No |
ClinGen gnomAD |
|
|
rs760745679 CA2363329 |
1263 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371514512 CA2363328 |
1265 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352521155 rs1337050438 |
1265 | E>K | No |
ClinGen gnomAD |
|
|
rs767782860 CA2363327 |
1266 | K>E | No |
ClinGen ExAC |
|
|
CA352521138 rs1385858883 |
1266 | K>R | No |
ClinGen gnomAD |
|
|
CA2363326 rs762731738 |
1267 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773098323 CA352521116 |
1268 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773098323 CA2363325 |
1268 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73808665 rs769596273 |
1269 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2363324 rs769596273 |
1269 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2363322 rs776438900 |
1270 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752087228 CA2363321 |
1270 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779851402 CA2363319 |
1271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1196910580 CA352521093 |
1271 | Y>H | No |
ClinGen gnomAD |
|
|
CA2363318 rs115542291 |
1272 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2363316 rs779292384 |
1274 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224797626 CA352521028 |
1276 | S>N | No |
ClinGen gnomAD |
|
|
CA2363313 rs778158607 |
1278 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA73808592 rs548734496 |
1278 | Y>H | No |
ClinGen Ensembl |
|
|
CA2363312 rs756174508 |
1279 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352520980 rs1559742197 |
1280 | A>G | No |
ClinGen Ensembl |
|
|
CA352520984 rs1371195167 |
1280 | A>S | No |
ClinGen gnomAD |
|
|
rs767696758 CA2363310 |
1282 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA73808572 rs976218064 |
1284 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs976218064 CA352520938 |
1284 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA352520941 rs1387669118 |
1284 | H>Y | No |
ClinGen gnomAD |
|
|
CA73808563 rs542366860 |
1287 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs759803434 CA2363309 |
1290 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140549337 CA2363308 |
1290 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2363306 rs761525463 |
1292 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2363303 rs374230237 |
1294 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2363302 rs148795337 |
1296 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA73804054 rs1000273506 |
1297 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370953553 CA2363301 RCV000500212 |
1297 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1348000790 CA352519718 |
1302 | G>D | No |
ClinGen gnomAD |
|
|
rs1270537136 CA352519686 |
1304 | G>D | No |
ClinGen gnomAD |
|
|
rs1364066394 CA352519688 |
1304 | G>S | No |
ClinGen gnomAD |
|
|
CA73804013 rs879086562 |
1312 | R>G | No |
ClinGen Ensembl |
|
|
CA2363293 rs377488968 |
1314 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352519551 rs1429220590 |
1314 | P>L | No |
ClinGen Ensembl |
|
|
rs377488968 CA2363294 |
1314 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352519537 rs1239696144 |
1315 | G>V | No |
ClinGen TOPMed |
|
|
rs950016449 CA352519512 |
1317 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs950016449 CA73803989 |
1317 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2363290 rs200956000 |
1319 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2363289 rs200956000 |
1319 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1225355 CA2363286 rs147170912 |
1322 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA352519424 rs1575810754 |
1324 | Q>E | No |
ClinGen Ensembl |
|
|
rs1476602371 CA352519415 |
1324 | Q>R | No |
ClinGen gnomAD |
|
|
CA352519397 rs1187497298 |
1325 | G>E | No |
ClinGen gnomAD |
|
|
rs377604174 CA2363285 |
1325 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767072110 CA2363283 |
1326 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774042042 CA2363281 |
1327 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA73803923 rs897209847 |
1330 | S>C | No |
ClinGen Ensembl |
|
|
CA2363279 rs537154191 |
1335 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1216047088 CA352519250 |
1335 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2363276 rs748587569 |
1339 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs141128971 CA73803898 |
1340 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1005505765 CA73803897 |
1341 | W>R | No |
ClinGen gnomAD |
|
|
CA73803894 rs936963184 |
1342 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA352519127 rs936963184 |
1342 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755070193 CA2363274 |
1344 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352519074 rs1252087914 |
1345 | D>N | No |
ClinGen TOPMed |
|
|
rs200416051 CA352519065 |
1345 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2363272 rs780288575 |
1346 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA352519045 rs780288575 |
1346 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA352519036 rs1339187034 |
1347 | S>C | No |
ClinGen TOPMed |
|
|
rs758594682 CA2363271 |
1348 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352519012 rs1237865726 |
1349 | F>L | No |
ClinGen Ensembl |
|
|
rs752627883 CA2363268 |
1352 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752627883 CA2363267 |
1352 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs138005965 CA2363264 |
1354 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194922971 CA352518842 |
1359 | S>C | No |
ClinGen TOPMed |
|
|
CA2363263 rs369469691 |
1359 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352518790 rs1288863697 |
1362 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1559741555 CA352518698 |
1368 | Q>R | No |
ClinGen Ensembl |
|
|
rs1408025883 CA352518689 |
1369 | A>T | No |
ClinGen gnomAD |
|
|
CA352518673 rs1372739848 |
1370 | P>T | No |
ClinGen gnomAD |
|
|
CA2363260 rs770085871 |
1371 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA352518575 rs1165951904 |
1375 | N>D | No |
ClinGen TOPMed |
|
|
CA73803740 rs747176449 |
1376 | S>F | No |
ClinGen Ensembl |
|
|
rs1376976454 CA352518556 |
1376 | S>P | No |
ClinGen TOPMed |
|
|
rs777116969 CA2363258 |
1377 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2363256 rs747086942 |
1381 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73803721 rs747086942 |
1381 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157617339 CA352518472 |
1381 | L>V | No |
ClinGen gnomAD |
|
|
CA2363254 rs772220706 |
1382 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1423565 rs779944664 CA2363255 |
1382 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA73803699 rs912983850 |
1385 | E>K | No |
ClinGen Ensembl |
|
|
rs879019101 CA73803681 |
1387 | K>E | No |
ClinGen Ensembl |
|
|
CA2363253 rs746024449 |
1387 | K>T | No |
ClinGen ExAC gnomAD |
|
|
COSM263603 CA2363252 rs779295786 |
1388 | D>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1045480 rs1469670151 CA352518311 |
1393 | L>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs559594100 CA2363250 |
1395 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352518244 rs145732065 |
1398 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365673959 CA352518234 |
1399 | K>R | No |
ClinGen gnomAD |
|
|
rs975690753 CA73803598 |
1400 | D>G | No |
ClinGen TOPMed |
|
|
rs1325494277 CA352518227 |
1400 | D>N | No |
ClinGen gnomAD |
|
|
CA73803569 rs1032998460 |
1402 | G>A | No |
ClinGen TOPMed |
|
|
rs376483573 CA73803592 |
1402 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352518186 rs1487113527 |
1403 | P>L | No |
ClinGen TOPMed |
|
|
CA73803566 rs765767219 |
1404 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765767219 CA2363247 |
1404 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352518153 rs1346378722 |
1406 | K>N | No |
ClinGen gnomAD |
|
|
rs1256168074 CA352518149 |
1407 | R>G | No |
ClinGen Ensembl |
|
|
CA2363245 rs750062275 |
1413 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA73803517 rs1014469298 |
1416 | E>G | No |
ClinGen TOPMed |
|
|
CA352518013 rs762132169 |
1417 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587778677 CA162113 RCV000122052 |
1421 | L>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs370129587 CA2363241 |
1424 | R>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1559741136 CA352517886 |
1427 | V>D | No |
ClinGen Ensembl |
|
|
rs771991446 CA2363238 |
1429 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs776065001 CA2363239 |
1429 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226885899 CA352517840 |
1431 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2363235 rs140120528 |
1432 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779275813 CA2363236 |
1432 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747936441 CA2363234 |
1433 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1575809880 CA352517821 |
1433 | Q>R | No |
ClinGen Ensembl |
|
|
rs780802861 CA2363233 |
1434 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs970305479 CA73803468 |
1435 | E>D | No |
ClinGen Ensembl |
|
|
CA352517781 rs1382015466 |
1437 | S>P | No |
ClinGen gnomAD |
|
|
CA2363231 rs751386762 |
1441 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757898935 CA2363230 |
1445 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757898935 CA2363229 |
1445 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749975185 CA2363228 |
1447 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1192116385 CA352517668 |
1448 | S>F | No |
ClinGen gnomAD |
|
|
rs764844518 CA2363227 |
1448 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA73803401 rs898862144 |
1450 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352517638 rs1206489974 |
1451 | M>T | No |
ClinGen TOPMed |
|
|
CA352517644 rs1485326443 |
1451 | M>V | No |
ClinGen gnomAD |
|
|
rs1254458895 CA352517574 |
1456 | D>A | No |
ClinGen TOPMed |
|
|
rs761450181 CA2363225 |
1457 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352517536 rs777992018 |
1459 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352517485 rs1350242980 |
1464 | A>V | No |
ClinGen gnomAD |
|
|
rs1299536482 CA352517480 |
1465 | K>R | No |
ClinGen gnomAD |
|
|
CA2363222 rs775852697 |
1466 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA73803374 rs374706873 |
1471 | C>R | No |
ClinGen ESP TOPMed |
|
|
CA352517407 rs1298245513 |
1472 | Y>C | No |
ClinGen gnomAD |
|
|
rs774624204 CA2363219 |
1475 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs543066717 CA2363218 |
1483 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2363189 rs770094902 |
1486 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352516604 rs1157995960 |
1490 | S>F | No |
ClinGen gnomAD |
|
|
CA352516553 RCV000521630 rs1553699113 |
1495 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1012111652 CA73800552 |
1498 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2363187 rs775304721 |
1498 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs771882570 CA2363186 |
1503 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2363185 rs745734582 |
1507 | D>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000122053 CA162116 rs528393799 |
1509 | R>K | No |
ClinGen ClinVar 1000Genomes dbSNP |
|
|
CA2363184 rs778832358 |
1510 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2363183 rs756750287 |
1511 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs199947065 CA2363182 |
1514 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352516152 rs1278136449 |
1518 | E>V | No |
ClinGen TOPMed |
|
|
CA352516107 rs1277628559 |
1525 | L>V | No |
ClinGen gnomAD |
|
|
CA2363159 rs747771114 |
1533 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs781005010 CA2363158 |
1538 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2363157 COSM1495567 rs755382206 |
1541 | N>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752011468 CA2363156 |
1543 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1419227458 CA352515954 |
1545 | Q>R | No |
ClinGen gnomAD |
|
|
CA352515923 rs1238229155 |
1549 | H>R | No |
ClinGen TOPMed |
|
|
CA73798545 rs1047233447 |
1553 | E>* | No |
ClinGen Ensembl |
|
|
CA2363154 rs758888329 |
1566 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352515097 rs1452241626 |
1573 | N>S | No |
ClinGen gnomAD |
|
|
CA352515086 rs1361858546 |
1574 | T>S | No |
ClinGen TOPMed |
|
|
rs765156374 CA2363124 |
1576 | V>L | No |
ClinGen ExAC |
|
|
rs916502458 CA73791959 |
1584 | L>P | No |
ClinGen Ensembl |
|
|
rs1359363019 COSM1423551 CA352514965 |
1585 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs768311118 CA73791923 |
1589 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057518410 RCV000412789 COSM1636930 CA16042507 |
1592 | R>* | bone [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA73791919 rs1020053763 |
1593 | V>M | No |
ClinGen TOPMed |
|
|
CA352514836 rs1285090688 |
1595 | E>V | No |
ClinGen gnomAD |
|
|
CA2363120 rs746591640 |
1600 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA73791876 rs1004675217 |
1602 | I>T | No |
ClinGen Ensembl |
|
|
CA2363118 rs772465763 |
1605 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1303122737 CA352514696 |
1607 | M>T | No |
ClinGen gnomAD |
|
|
CA352513798 COSM3365353 rs1373021859 |
1615 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1064794751 RCV000478163 CA16617975 |
1616 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768604404 CA2363049 COSM3380599 |
1624 | S>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2363047 COSM1423544 rs780387684 |
1631 | C>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA352513509 rs1387933251 |
1636 | E>A | No |
ClinGen TOPMed |
|
|
rs868343300 CA73787995 |
1640 | W>G | No |
ClinGen Ensembl |
|
|
CA73787994 rs970790216 |
1641 | T>N | No |
ClinGen Ensembl |
|
|
CA352513191 rs1289786948 |
1654 | K>E | No |
ClinGen TOPMed |
|
|
CA2363019 rs141705382 |
1657 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376592606 CA352513148 |
1658 | S>* | No |
ClinGen gnomAD |
|
|
RCV000122054 CA162119 rs587778678 |
1658 | S>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs928084094 CA73785383 |
1684 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352511956 rs1282194544 |
1694 | R>K | No |
ClinGen gnomAD |
|
|
CA2362998 rs774710481 |
1702 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771225429 CA2362997 |
1705 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774671060 CA352511859 |
1708 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352511844 rs1224110613 |
1710 | R>L | No |
ClinGen TOPMed |
|
|
CA352511832 rs1344050600 |
1712 | K>T | No |
ClinGen gnomAD |
|
|
rs1248520088 CA352511819 |
1714 | S>A | No |
ClinGen gnomAD |
|
|
CA352511814 rs1214553514 |
1714 | S>L | No |
ClinGen gnomAD |
|
|
CA2362959 rs745824413 |
1715 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA73777615 rs765445882 |
1721 | A>T | No |
ClinGen Ensembl |
|
|
rs1575752242 CA352511415 |
1722 | L>V | No |
ClinGen Ensembl |
|
|
CA352511403 rs1162303086 |
1723 | M>K | No |
ClinGen TOPMed |
|
|
rs778443256 CA2362958 |
1723 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2362957 rs770349862 |
1725 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs867505169 CA73777610 |
1728 | G>V | No |
ClinGen Ensembl |
|
|
CA2362955 rs777351391 |
1730 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1575752168 CA352511284 |
1730 | S>C | No |
ClinGen Ensembl |
|
|
CA352511165 rs1478136130 |
1737 | S>T | No |
ClinGen gnomAD |
|
|
rs1057523157 RCV000426759 CA16604601 |
1740 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA352510904 rs1422216096 |
1754 | C>S | No |
ClinGen gnomAD |
|
|
rs769619404 CA2362937 |
1760 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2362936 rs747825765 |
1762 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2362934 rs755400687 |
1763 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352538474 rs1207513586 |
1765 | S>Y | No |
ClinGen gnomAD |
|
|
rs1355005608 CA352538459 |
1766 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs747536206 CA2362933 |
1769 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750518294 CA2362930 COSM1045450 |
1773 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2362925 rs759310174 |
1789 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376246790 CA2362923 |
1790 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2362924 rs774344041 |
1790 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285983711 CA352537985 |
1791 | E>Q | No |
ClinGen TOPMed |
|
|
CA352537957 rs1440735409 |
1792 | S>G | No |
ClinGen gnomAD |
|
|
rs1032937854 CA73814401 |
1793 | N>K | No |
ClinGen Ensembl |
|
|
rs1402083087 CA352537424 |
1805 | E>K | No |
ClinGen gnomAD |
|
|
CA73813108 rs976297119 |
1806 | H>Y | No |
ClinGen TOPMed |
|
|
CA2362896 rs750391486 |
1814 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA352536962 rs1403488230 |
1823 | I>V | No |
ClinGen gnomAD |
|
|
rs761473538 CA2362894 |
1825 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761473538 CA2362895 |
1825 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575745355 COSM1045448 CA352536825 |
1826 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA73813078 rs1011940072 |
1832 | T>S | No |
ClinGen gnomAD |
|
|
CA2362891 rs760392790 |
1834 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362889 rs144171734 |
1836 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775677070 CA2362890 |
1836 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1219340540 CA352536498 |
1840 | G>R | No |
ClinGen gnomAD |
|
|
rs1559701946 CA352536370 |
1847 | N>D | No |
ClinGen Ensembl |
|
|
rs1559701946 CA352536375 |
1847 | N>H | No |
ClinGen Ensembl |
|
|
CA2362883 rs376063996 |
1850 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352536275 RCV000951861 rs1341433062 |
1850 | R>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs779650219 CA2362881 |
1856 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1411181149 CA352536095 |
1857 | T>I | No |
ClinGen gnomAD |
|
|
rs750379129 CA2362879 |
1858 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482913329 CA352536011 |
1860 | P>L | No |
ClinGen gnomAD |
|
|
rs1262610955 CA352535969 |
1862 | T>S | No |
ClinGen TOPMed |
|
|
rs11721074 VAR_027840 CA73812968 |
1868 | A>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA352535803 rs1559701773 |
1869 | D>G | No |
ClinGen Ensembl |
|
|
rs772309871 CA2362872 |
1870 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759962777 CA2362871 |
1874 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352535610 rs1218578909 |
1876 | L>P | No |
ClinGen TOPMed |
|
|
CA2362869 rs771477731 |
1877 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352535490 rs1357325164 |
1879 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769925323 CA2362866 |
1884 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201244112 CA73812901 |
1888 | S>I | No |
ClinGen Ensembl |
|
|
rs116513862 CA73812896 |
1890 | D>G | No |
ClinGen 1000Genomes |
|
|
CA2362864 rs781536923 |
1891 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1322385881 CA352535049 |
1893 | I>N | No |
ClinGen gnomAD |
|
|
CA2362863 rs369233898 |
1896 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2362862 rs750289124 |
1896 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1438888811 CA352534883 |
1897 | T>I | No |
ClinGen gnomAD |
|
|
CA352534878 rs1379166588 |
1898 | S>G | No |
ClinGen gnomAD |
|
|
CA352534830 rs1380727107 |
1899 | E>G | No |
ClinGen gnomAD |
|
|
rs1559701548 CA352534782 |
1901 | E>G | No |
ClinGen Ensembl |
|
|
rs1002572433 CA73812867 |
1902 | G>C | No |
ClinGen TOPMed |
|
|
CA2362860 rs757216690 |
1902 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753817699 CA2362859 |
1904 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1490559790 CA352534655 |
1905 | G>S | No |
ClinGen gnomAD |
|
|
rs1294255401 CA352534524 |
1910 | D>H | No |
ClinGen gnomAD |
|
|
rs755706240 CA2362857 |
1915 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362855 rs767241855 |
1916 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2362853 rs774649665 |
1917 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372085873 CA2362854 |
1917 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436601562 CA352534087 |
1920 | E>D | No |
ClinGen gnomAD |
|
|
CA352534066 rs1367009265 |
1921 | E>G | No |
ClinGen gnomAD |
|
|
CA73812837 rs551260840 |
1924 | Q>H | No |
ClinGen Ensembl |
|
|
rs1405812024 CA352533920 |
1925 | S>A | No |
ClinGen TOPMed |
|
|
rs1282949429 CA352533890 |
1926 | Q>K | No |
ClinGen gnomAD |
|
|
CA2362850 rs182268641 |
1926 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769752064 CA2362849 |
1929 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs748296881 CA2362848 |
1933 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352533617 rs1214843980 |
1934 | P>L | No |
ClinGen TOPMed |
|
|
rs1271536742 CA352533594 |
1935 | E>Q | No |
ClinGen TOPMed |
|
|
CA352533571 rs1490719275 |
1935 | E>V | No |
ClinGen TOPMed |
|
|
CA2362846 rs768946407 |
1937 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA73812817 rs146956978 |
1940 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs943452157 CA73812809 |
1940 | S>R | No |
ClinGen Ensembl |
|
|
CA352533429 rs1310907958 |
1941 | E>A | No |
ClinGen gnomAD |
|
|
rs1575744485 CA352533389 |
1942 | T>P | No |
ClinGen Ensembl |
|
|
CA352533360 rs1301224390 |
1943 | N>D | No |
ClinGen gnomAD |
|
|
rs1455352918 CA352533354 |
1943 | N>S | No |
ClinGen gnomAD |
|
|
CA2362843 rs749168216 |
1944 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1275828128 CA352533296 |
1945 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352533269 rs1398931878 |
1946 | A>S | No |
ClinGen gnomAD |
|
|
CA352533253 rs1340757729 |
1947 | S>G | No |
ClinGen gnomAD |
|
|
rs1358400248 CA352533120 |
1953 | E>G | No |
ClinGen gnomAD |
|
|
rs923467940 CA73812802 |
1955 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761536283 CA2362841 |
1955 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1559701154 CA352531411 |
1960 | I>L | No |
ClinGen Ensembl |
|
|
CA352531366 rs1262728301 |
1961 | E>D | No |
ClinGen gnomAD |
|
|
rs4082155 CA2362838 |
1962 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4082155 CA352531348 |
1962 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA73812743 rs967881460 |
1964 | E>Q | No |
ClinGen Ensembl |
|
|
CA352531278 rs1204853330 |
1965 | S>N | No |
ClinGen gnomAD |
|
|
CA352531268 rs768174639 |
1965 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA73812739 rs768174639 |
1965 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs371395770 CA73812733 |
1967 | G>S | No |
ClinGen Ensembl |
|
|
CA352531176 rs1297230565 |
1970 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1559701072 CA352531180 |
1970 | L>V | No |
ClinGen Ensembl |
|
|
rs762246808 CA2362834 |
1973 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA352531095 rs1559701059 |
1974 | I>T | No |
ClinGen Ensembl |
|
|
rs867673390 CA73812715 |
1974 | I>V | No |
ClinGen gnomAD |
|
|
CA352531067 rs747170105 |
1975 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2362832 rs768858060 |
1975 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2362833 rs776729678 |
1975 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs960778490 CA73812696 |
1976 | E>D | No |
ClinGen TOPMed |
|
|
CA73812702 rs1035150114 |
1976 | E>V | No |
ClinGen Ensembl |
|
|
CA73812689 rs981834946 |
1977 | E>D | No |
ClinGen Ensembl |
|
|
CA352531028 rs1183280787 |
1977 | E>Q | No |
ClinGen TOPMed |
|
|
CA352530992 rs1465200347 |
1979 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1267301409 CA352530913 |
1982 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA352530904 rs1267301409 |
1982 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA161996 rs587778664 RCV000122013 |
1982 | D>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2362829 rs749146060 |
1990 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352530680 rs1184603919 |
1993 | E>G | No |
ClinGen gnomAD |
|
|
CA352530691 rs1255826196 |
1993 | E>Q | No |
ClinGen gnomAD |
|
|
rs756031689 CA2362828 |
1994 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA352530557 rs1559700909 |
1999 | P>Q | No |
ClinGen Ensembl |
|
|
CA2362825 rs139064872 |
2000 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1444726256 CA352530456 |
2004 | D>G | No |
ClinGen TOPMed |
|
|
rs1315408533 CA352530418 |
2006 | S>G | No |
ClinGen gnomAD |
|
|
rs74566171 CA73812582 |
2009 | A>D | No |
ClinGen Ensembl |
|
|
rs1231297521 CA352530224 |
2015 | S>G | No |
ClinGen gnomAD |
|
|
CA2362819 rs573687627 |
2020 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1414315565 CA352527342 |
2029 | S>N | No |
ClinGen TOPMed |
|
|
rs569043668 CA352527338 |
2029 | S>R | No |
ClinGen TOPMed |
|
|
CA352527308 rs758026999 |
2030 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs750045087 CA2362801 |
2031 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1559683764 CA352527225 |
2035 | N>D | No |
ClinGen Ensembl |
|
|
CA73803951 rs374583536 |
2036 | T>A | No |
ClinGen ESP |
|
|
RCV001263417 rs914740277 |
2037 | T>I | No |
ClinVar dbSNP |
|
|
CA73800887 rs914740277 |
2037 | T>R | No |
ClinGen TOPMed |
|
|
rs1186595470 CA352525334 |
2038 | T>A | No |
ClinGen gnomAD |
|
|
CA352525303 rs1331804243 |
2039 | E>G | No |
ClinGen TOPMed |
|
|
CA352525284 COSM4135357 rs976581260 |
2040 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA73800881 rs976581260 |
2040 | R>G | No |
ClinGen gnomAD |
|
|
CA352525280 rs1244929991 |
2040 | R>Q | No |
ClinGen gnomAD |
|
|
CA352525214 rs1456482272 |
2043 | D>G | No |
ClinGen gnomAD |
|
|
CA352525211 rs1456482272 |
2043 | D>V | No |
ClinGen gnomAD |
|
|
rs1559678399 CA352525149 |
2046 | G>A | No |
ClinGen Ensembl |
|
|
CA73800870 rs749666698 |
2052 | P>H | No |
ClinGen Ensembl |
|
|
CA2362759 rs766552660 |
2052 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1296278122 CA352524970 |
2053 | A>V | No |
ClinGen TOPMed |
|
|
rs139016283 CA2362756 |
2054 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139016283 CA2362757 |
2054 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465373100 CA352524832 |
2060 | S>P | No |
ClinGen TOPMed |
|
|
CA2362750 rs770439891 |
2064 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA352524720 rs1388458918 |
2065 | P>A | No |
ClinGen TOPMed |
|
|
CA73800808 rs1033277635 |
2066 | D>H | No |
ClinGen TOPMed |
|
|
rs748653635 CA2362745 |
2069 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1495574 rs781655817 CA2362744 |
2071 | N>K | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1205330893 CA352524447 |
2077 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA73800790 rs981018402 COSM1045436 |
2077 | R>Q | central_nervous_system endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2362740 rs758547176 |
2084 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs750653362 CA2362739 |
2085 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763860515 CA2362738 |
2086 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73800720 rs183768442 |
2089 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
RCV000122018 CA162011 rs149758106 |
2090 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2362737 rs760529168 |
2090 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA73800709 rs1022882936 |
2092 | T>I | No |
ClinGen TOPMed |
|
|
rs1349363771 CA352524069 |
2094 | R>K | No |
ClinGen gnomAD |
|
|
rs1424966648 CA352524014 |
2096 | D>G | No |
ClinGen gnomAD |
|
|
rs1359343324 CA352523975 |
2098 | R>G | No |
ClinGen TOPMed |
|
|
CA352521865 rs1345617918 |
2100 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750635731 CA2362718 |
2102 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755881799 CA2362716 |
2103 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752383389 CA2362715 |
2106 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs967982470 COSM169529 CA73796791 |
2109 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs867188953 CA73796790 |
2113 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2362714 rs371523162 |
2114 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769623377 CA2362708 |
2132 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290413013 CA352521246 |
2137 | Q>L | No |
ClinGen gnomAD |
|
|
rs1003072976 CA73796668 |
2139 | Q>H | No |
ClinGen Ensembl |
|
|
CA352520989 rs1257298139 |
2153 | D>V | No |
ClinGen gnomAD |
|
|
rs1420585757 CA352520928 |
2157 | Y>S | No |
ClinGen gnomAD |
|
|
CA352520897 rs1474422525 |
2159 | A>T | No |
ClinGen TOPMed |
|
|
rs1204908942 CA352520857 |
2163 | P>L | No |
ClinGen gnomAD |
|
|
CA352520843 rs1433904494 |
2165 | A>V | No |
ClinGen TOPMed |
|
|
CA2362698 rs754096506 |
2170 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226151109 CA352520790 |
2173 | M>I | No |
ClinGen gnomAD |
|
|
rs780794651 CA2362697 |
2174 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2362696 rs754860506 |
2175 | A>V | No |
ClinGen ExAC |
|
|
CA2362694 rs766462859 |
2180 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA352520676 rs1408383191 |
2190 | P>L | No |
ClinGen gnomAD |
|
|
rs1007136037 CA73796468 |
2193 | S>G | No |
ClinGen Ensembl |
|
|
rs199893441 CA2362690 |
2193 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443135936 CA352520595 |
2200 | P>L | No |
ClinGen gnomAD |
|
|
rs776399134 CA2362688 |
2200 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764377763 CA2362687 |
2201 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA352520578 rs143083979 |
2202 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2362683 rs528430487 |
2204 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1051270951 CA73796439 |
2205 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352520512 rs1252670264 |
2206 | A>V | No |
ClinGen gnomAD |
|
|
rs752976032 CA73796393 |
2216 | P>L | No |
ClinGen Ensembl |
|
|
rs774347385 CA2362681 |
2216 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559672893 CA352520332 |
2222 | P>L | No |
ClinGen Ensembl |
|
|
rs1304905045 CA352520323 |
2224 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA73796381 rs941392264 |
2225 | V>A | No |
ClinGen TOPMed |
|
|
CA352520257 rs1171530720 |
2229 | V>M | No |
ClinGen TOPMed |
|
|
CA352520226 rs1575700988 |
2231 | A>G | No |
ClinGen Ensembl |
|
|
CA73796365 rs767329614 |
2233 | V>A | No |
ClinGen gnomAD |
|
|
rs1423045377 CA352520206 |
2233 | V>L | No |
ClinGen gnomAD |
|
|
CA352520191 rs1427050464 |
2234 | E>A | No |
ClinGen gnomAD |
|
|
rs754699948 CA2362677 |
2234 | E>Q | No |
ClinGen ExAC |
|
|
rs780019200 CA2362676 |
2235 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780019200 CA2362675 |
2235 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73796331 rs1042427777 |
2236 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2362674 rs758375586 |
2238 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1575700931 CA352520128 |
2239 | Q>P | No |
ClinGen Ensembl |
|
|
rs750393537 CA2362673 |
2242 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352520053 rs1575700913 |
2244 | S>R | No |
ClinGen Ensembl |
|
|
CA2362671 rs756854758 |
2249 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753398896 CA2362670 |
2253 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239748039 CA352519880 |
2255 | A>G | No |
ClinGen gnomAD |
|
|
rs767871315 CA2362666 |
2257 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867632296 CA73796252 |
2258 | P>S | No |
ClinGen Ensembl |
|
|
rs199618415 CA73796246 |
2259 | V>L | No |
ClinGen Ensembl |
|
|
CA2362665 rs759979231 |
2260 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352519761 rs1388854944 |
2261 | A>P | No |
ClinGen gnomAD |
|
|
CA2362663 rs770913885 |
2261 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352519723 rs1454824814 |
2263 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352519704 rs1173653586 |
2264 | P>T | No |
ClinGen gnomAD |
|
|
rs2040110568 RCV001193985 |
2265 | V>I | No |
ClinVar dbSNP |
|
|
CA73796221 rs867342876 |
2266 | Q>R | No |
ClinGen gnomAD |
|
|
rs1269196065 CA352519600 |
2269 | N>H | No |
ClinGen gnomAD |
|
|
rs1191506417 CA352519524 |
2272 | V>F | No |
ClinGen TOPMed |
|
|
rs373366089 CA73796181 |
2274 | D>G | No |
ClinGen Ensembl |
|
|
CA2362660 rs770011339 |
2274 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73796215 rs770011339 |
2274 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156971620 CA352519437 |
2275 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs779931413 CA73796130 |
2278 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA352519354 rs1205573489 |
2278 | Q>R | No |
ClinGen gnomAD |
|
|
CA73796129 rs201453289 |
2279 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA352519339 rs201453289 |
2279 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA73796127 rs752287641 |
2280 | V>L | No |
ClinGen Ensembl |
|
|
CA352519183 rs1318081365 |
2285 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352519185 rs1318081365 |
2285 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753338268 CA2362653 |
2288 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753338268 CA73796110 |
2288 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763541766 CA2362652 |
2290 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA352519018 rs1575700566 |
2292 | Q>H | No |
ClinGen Ensembl |
|
|
rs755724649 CA2362651 |
2294 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759219467 CA2362650 |
2295 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352518939 rs1173959948 |
2296 | Y>C | No |
ClinGen gnomAD |
|
|
rs1372228141 CA352518900 |
2298 | Q>E | No |
ClinGen gnomAD |
|
|
CA352518751 rs1305779424 |
2303 | P>L | No |
ClinGen TOPMed |
|
|
rs1559672400 CA352518743 |
2304 | T>A | No |
ClinGen Ensembl |
|
|
CA2362644 rs773305513 |
2306 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221088802 CA352518667 |
2307 | G>S | No |
ClinGen gnomAD |
|
|
rs769772469 CA2362643 |
2307 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA352518533 rs1269929027 |
2314 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771957568 CA2362641 |
2316 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2362640 rs771957568 |
2316 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs770500112 CA2362639 |
2317 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352518436 rs1281517794 |
2319 | I>S | No |
ClinGen gnomAD |
|
|
CA2362636 rs749186852 |
2321 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000890401 rs1162711197 CA352515734 |
2324 | A>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
COSM305418 CA352515733 rs1425169903 |
2324 | A>V | soft_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs867369702 CA352515719 |
2326 | P>L | No |
ClinGen gnomAD |
|
|
rs867369702 CA73789657 |
2326 | P>Q | No |
ClinGen gnomAD |
|
|
rs1282148926 CA352515720 |
2326 | P>S | No |
ClinGen TOPMed |
|
|
rs1018953967 CA73789634 |
2327 | S>R | No |
ClinGen Ensembl |
|
|
rs977569469 CA73789631 |
2330 | Y>C | No |
ClinGen TOPMed |
|
|
CA352515678 rs1316070128 |
2332 | Q>R | No |
ClinGen TOPMed |
|
|
CA352515674 rs1559661037 |
2333 | G>R | No |
ClinGen Ensembl |
|
|
CA73789612 rs971681007 |
2335 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs769263465 CA352515652 |
2336 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362612 rs769263465 |
2336 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362611 rs747707927 |
2337 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1349322470 CA352515639 |
2338 | T>A | No |
ClinGen gnomAD |
|
|
CA352515635 rs1198773854 |
2338 | T>I | No |
ClinGen TOPMed |
|
|
rs1364648104 CA352515631 |
2339 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352515629 rs1364648104 |
2339 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352515628 rs1559660982 |
2340 | H>N | No |
ClinGen Ensembl |
|
|
rs754588966 CA2362609 |
2344 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1024557543 CA73789588 |
2347 | Q>E | No |
ClinGen TOPMed |
|
|
CA2362604 rs765890389 |
2350 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs995303125 CA73789497 |
2355 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2362602 rs753926826 |
2356 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775632004 CA2362599 |
2358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775632004 CA73789461 |
2358 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362598 rs766193321 |
2359 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA352515499 rs1221799902 |
2361 | P>L | No |
ClinGen TOPMed |
|
|
rs748117514 CA2362594 |
2364 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1284290834 CA352515480 |
2364 | L>W | No |
ClinGen gnomAD |
|
|
rs759827888 CA2362579 |
2368 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1213736696 CA352514515 |
2369 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352514523 rs1410167729 |
2369 | M>T | No |
ClinGen TOPMed |
|
|
CA2362578 rs772953443 |
2371 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362577 rs114833216 |
2373 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376889343 CA73786830 |
2375 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA73786810 rs200186997 |
2379 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2362569 rs779361258 |
2385 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2362570 rs745537058 |
2385 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA352514283 rs1468250923 |
2390 | V>I | No |
ClinGen TOPMed |
|
|
rs778464270 CA2362566 |
2392 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749808656 CA2362567 |
2392 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1249234668 CA352514247 |
2393 | P>A | No |
ClinGen gnomAD |
|
|
rs564576540 CA73786754 |
2394 | N>D | No |
ClinGen Ensembl |
|
|
CA2362565 rs756197752 |
2394 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362564 rs752671469 |
2399 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352514118 rs1575676286 |
2401 | P>L | No |
ClinGen Ensembl |
|
|
rs1476371771 CA352513994 |
2410 | V>M | No |
ClinGen TOPMed |
|
|
rs1575669652 CA352512786 |
2414 | Q>* | No |
ClinGen Ensembl |
|
|
CA352512778 rs1259012873 |
2414 | Q>P | No |
ClinGen gnomAD |
|
|
rs1329961934 CA352512628 |
2420 | P>L | No |
ClinGen gnomAD |
|
|
CA2362534 COSM1581650 rs76132393 |
2421 | T>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147822770 CA2362533 |
2424 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352512495 rs1330883280 |
2427 | D>H | No |
ClinGen gnomAD |
|
|
CA352512463 rs1324691280 |
2428 | D>G | No |
ClinGen gnomAD |
|
|
rs752737051 CA2362529 |
2432 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1021696810 CA73783598 |
2433 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2362528 rs766930052 |
2436 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2362525 rs770659526 |
2443 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1209297833 CA352512189 |
2443 | T>I | No |
ClinGen gnomAD |
|
|
CA352512192 rs1209297833 |
2443 | T>K | No |
ClinGen gnomAD |
|
|
rs1195379679 CA352512178 |
2444 | Y>C | No |
ClinGen TOPMed |
|
|
rs376734320 CA73783506 COSM4152450 |
2446 | E>* | kidney [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
CA2362523 rs773384230 |
2448 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs781782105 CA2362520 |
2449 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770211227 CA352512129 |
2449 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2362521 rs559045162 |
2449 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2362522 rs770211227 |
2449 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000122020 CA162017 rs587778667 |
2451 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA352558632 rs1169041202 |
2453 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1192809896 CA352558589 |
2454 | K>N | No |
ClinGen Ensembl |
|
|
CA73834830 rs76973370 |
2454 | K>R | No |
ClinGen Ensembl |
|
|
CA2362499 rs374861220 |
2467 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779235044 CA2362497 |
2472 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73834804 rs773863597 |
2473 | V>I | No |
ClinGen Ensembl |
|
|
rs1452746194 CA352557189 |
2478 | M>I | No |
ClinGen gnomAD |
|
|
RCV000782032 rs1559634490 |
2480 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1393123387 CA352557128 |
2481 | F>L | No |
ClinGen TOPMed |
|
|
RCV000992925 CA2362483 rs761150552 |
2482 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1229860454 CA352557056 |
2486 | L>V | No |
ClinGen gnomAD |
|
|
CA352557000 rs1343408083 |
2489 | Y>F | No |
ClinGen gnomAD |
|
|
CA2362481 rs772135964 |
2490 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA352556961 rs1275303091 |
2492 | P>L | No |
ClinGen TOPMed |
|
|
CA352556903 rs1351585264 |
2496 | V>A | No |
ClinGen gnomAD |
|
|
CA2362480 rs746019134 |
2496 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA352556865 rs1468592664 |
2500 | T>A | No |
ClinGen gnomAD |
|
|
CA352556819 rs1388010738 |
2503 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749502690 CA2362477 |
2504 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1415345880 CA352556492 |
2524 | C>Y | No |
ClinGen gnomAD |
|
|
rs759966189 CA2362462 |
2525 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA352556360 rs1449450654 |
2534 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1248081279 CA352556353 |
2534 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA352556326 rs1482006562 |
2537 | K>Q | No |
ClinGen gnomAD |
|
|
rs368761115 CA73833182 |
2542 | E>A | No |
ClinGen ESP TOPMed |
|
|
rs1255000290 CA352556238 |
2548 | M>I | No |
ClinGen gnomAD |
|
|
rs1015979303 CA73833168 |
2548 | M>T | No |
ClinGen TOPMed |
|
|
CA73833175 rs1042058100 |
2548 | M>V | No |
ClinGen Ensembl |
|
|
CA352556236 rs1210400257 |
2549 | Q>* | No |
ClinGen gnomAD |
|
|
CA2362458 rs773606468 |
2550 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA352556215 rs1386662369 |
2551 | F>L | No |
ClinGen TOPMed |
|
|
CA2362456 rs374840624 |
2560 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780004717 CA2362455 |
2564 | E>K | No |
ClinGen ExAC gnomAD |
4 associated diseases with Q9BYW2
[MIM: 144700]: Renal cell carcinoma (RCC)
Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:20054297, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:23792563, ECO:0000269|PubMed:25728682}. Note=The disease may be caused by variants affecting the gene represented in this entry. Defects of SETD2 are associated with loss of DNA methylation at non-promoter regions (PubMed:23792563). SETD2 defects lead to aberrant and reduced nucleosome compaction and chromatin association of key replication proteins, such as MCM7 and DNA polymerase delta, leading to hinder replication fork progression and prevent loading of RAD51 homologous recombination repair factor at DNA breaks (PubMed:25728682). {ECO:0000269|PubMed:23792563, ECO:0000269|PubMed:25728682}.
[MIM: 616831]: Luscan-Lumish syndrome (LLS)
An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. {ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:24852293, ECO:0000269|PubMed:26084711, ECO:0000269|PubMed:27317772}. Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 613065]: Leukemia, acute lymphoblastic (ALL)
A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. {ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24662245}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
[MIM: 601626]: Leukemia, acute myelogenous (AML)
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:16314571, ECO:0000269|PubMed:24509477}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Without disease ID
- Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:20054297, ECO:0000269|PubMed:23622243, ECO:0000269|PubMed:23792563, ECO:0000269|PubMed:25728682}. Note=The disease may be caused by variants affecting the gene represented in this entry. Defects of SETD2 are associated with loss of DNA methylation at non-promoter regions (PubMed:23792563). SETD2 defects lead to aberrant and reduced nucleosome compaction and chromatin association of key replication proteins, such as MCM7 and DNA polymerase delta, leading to hinder replication fork progression and prevent loading of RAD51 homologous recombination repair factor at DNA breaks (PubMed:25728682). {ECO:0000269|PubMed:23792563, ECO:0000269|PubMed:25728682}.
- An autosomal dominant syndrome with a variable phenotype. Clinical features include macrocephaly, distinctive facial appearance, postnatal overgrowth, various degrees of learning difficulties, autism spectrum disorder, and intellectual disability. {ECO:0000269|PubMed:23160955, ECO:0000269|PubMed:24852293, ECO:0000269|PubMed:26084711, ECO:0000269|PubMed:27317772}. Note=The disease may be caused by variants affecting the gene represented in this entry.
- A subtype of acute leukemia, a cancer of the white blood cells. ALL is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphnodes. {ECO:0000269|PubMed:24509477, ECO:0000269|PubMed:24662245}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
- A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:16314571, ECO:0000269|PubMed:24509477}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
6 regional properties for Q9BYW2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | WW domain | 2389 - 2422 | IPR001202 |
| domain | SET domain | 1550 - 1673 | IPR001214 |
| domain | Post-SET domain | 1674 - 1690 | IPR003616 |
| domain | AWS domain | 1494 - 1549 | IPR006560 |
| domain | Set2 Rpb1 interacting domain | 2468 - 2556 | IPR013257 |
| domain | SETD2/Set2, SET domain | 1549 - 1690 | IPR044437 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.359 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR46711 | HISTONE-LYSINE N-METHYLTRANSFERASE SETD2 |
| PANTHER Subfamily | PTHR46711:SF1 | HISTONE-LYSINE N-METHYLTRANSFERASE SETD2 |
| PANTHER Protein Class | histone modifying enzyme | |
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| histone methyltransferase activity (H3-K36 specific) | Catalysis of the reaction: S-adenosyl-L-methionine + histone H3 L-lysine (position 36) = S-adenosyl-L-homocysteine + histone H3 N6-methyl-L-lysine (position 36). This reaction is the addition of a methyl group onto lysine at position 36 of the histone H3 protein. |
| histone-lysine N-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives. |
| metal ion binding | Binding to a metal ion. |
| protein-lysine N-methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate. |
29 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| cell migration involved in vasculogenesis | The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. |
| coronary vasculature morphogenesis | The process in which the anatomical structures of blood vessels of the heart are generated and organized. The blood vessel is the vasculature carrying blood. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| embryonic cranial skeleton morphogenesis | The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase. |
| embryonic placenta morphogenesis | The process in which the embryonic placenta is generated and organized. |
| endodermal cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. |
| forebrain development | The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions). |
| histone H3-K36 dimethylation | The modification of histone H3 by addition of two methyl groups to lysine at position 36 of the histone. |
| histone H3-K36 trimethylation | The modification of histone H3 by addition of three methyl groups to lysine at position 36 of the histone. |
| mesoderm morphogenesis | The process in which the anatomical structures of the mesoderm are generated and organized. |
| microtubule cytoskeleton organization involved in mitosis | Any microtubule cytoskeleton organization that is involved in mitosis. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| morphogenesis of a branching structure | The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| nucleosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of one or more nucleosomes. |
| peptidyl-lysine monomethylation | The methylation of peptidyl-lysine to form peptidyl-N6-methyl-L-lysine. |
| peptidyl-lysine trimethylation | The methylation of peptidyl-lysine to form peptidyl-N6,N6,N6-trimethyl-L-lysine. |
| pericardium development | The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| regulation of cytokinesis | Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
| regulation of double-strand break repair via homologous recombination | Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. |
| regulation of mRNA export from nucleus | Any process that modulates the frequency, rate or extent of the directed movement of mRNA from the nucleus to the cytoplasm. |
| regulation of protein localization to chromatin | Any process that modulates the frequency, rate or extent of protein localization to chromatin. |
| regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| response to type I interferon | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a type I interferon stimulus. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| stem cell development | The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. |
| stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| transcription elongation from RNA polymerase II promoter | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E9Q5F9 | Setd2 | Histone-lysine N-methyltransferase SETD2 | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKQLQPQPPP | KMGDFYDPEH | PTPEEEENEA | KIENVQKTGF | IKGPMFKGVA | SSRFLPKGTK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TKVNLEEQGR | QKVSFSFSLT | KKTLQNRFLT | ALGNEKQSDT | PNPPAVPLQV | DSTPKMKMEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GDTLSTAEES | SPPKSRVELG | KIHFKKHLLH | VTSRPLLATT | TAVASPPTHA | APLPAVIAES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTVDSPPSSP | PPPPPPAQAT | TLSSPAPVTE | PVALPHTPIT | VLMAAPVPLP | VDVAVRSLKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PPIIIVPESL | EADTKQDTIS | NSLEEHVTQI | LNEQADISSK | KEDSHIGKDE | EIPDSSKISL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SCKKTGSKKK | SSQSEGIFLG | SESDEDSVRT | SSSQRSHDLK | FSASIEKERD | FKKSSAPLKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EDLGKPSRSK | TDRDDKYFSY | SKLERDTRYV | SSRCRSERER | RRSRSHSRSE | RGSRTNLSYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RSERSHYYDS | DRRYHRSSPY | RERTRYSRPY | TDNRARESSD | SEEEYKKTYS | RRTSSHSSSY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RDLRTSSYSK | SDRDCKTETS | YLEMERRGKY | SSKLERESKR | TSENEAIKRC | CSPPNELGFR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RGSSYSKHDS | SASRYKSTLS | KPIPKSDKFK | NSFCCTELNE | EIKQSHSFSL | QTPCSKGSEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RMINKNPERE | KAGSPAPSNR | LNDSPTLKKL | DELPIFKSEF | ITHDSHDSIK | ELDSLSKVKN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DQLRSFCPIE | LNINGSPGAE | SDLATFCTSK | TDAVLMTSDD | SVTGSELSPL | VKACMLSSNG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FQNISRCKEK | DLDDTCMLHK | KSESPFRETE | PLVSPHQDKL | MSMPVMTVDY | SKTVVKEPVD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TRVSCCKTKD | SDIYCTLNDS | NPSLCNSEAE | NIEPSVMKIS | SNSFMNVHLE | SKPVICDSRN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LTDHSKFACE | EYKQSIGSTS | SASVNHFDDL | YQPIGSSGIA | SSLQSLPPGI | KVDSLTLLKC |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GENTSPVLDA | VLKSKKSSEF | LKHAGKETIV | EVGSDLPDSG | KGFASRENRR | NNGLSGKCLQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EAQEEGNSIL | PERRGRPEIS | LDERGEGGHV | HTSDDSEVVF | SSCDLNLTME | DSDGVTYALK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| CDSSGHAPEI | VSTVHEDYSG | SSESSNDESD | SEDTDSDDSS | IPRNRLQSVV | VVPKNSTLPM |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EETSPCSSRS | SQSYRHYSDH | WEDERLESRR | HLYEEKFESI | ASKACPQTDK | FFLHKGTEKN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PEISFTQSSR | KQIDNRLPEL | SHPQSDGVDS | TSHTDVKSDP | LGHPNSEETV | KAKIPSRQQE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ELPIYSSDFE | DVPNKSWQQT | TFQNRPDSRL | GKTELSFSSS | CEIPHVDGLH | SSEELRNLGW |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| DFSQEKPSTT | YQQPDSSYGA | CGGHKYQQNA | EQYGGTRDYW | QGNGYWDPRS | GRPPGTGVVY |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| DRTQGQVPDS | LTDDREEEEN | WDQQDGSHFS | DQSDKFLLSL | QKDKGSVQAP | EISSNSIKDT |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| LAVNEKKDFS | KNLEKNDIKD | RGPLKKRRQE | IESDSESDGE | LQDRKKVRVE | VEQGETSVPP |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| GSALVGPSCV | MDDFRDPQRW | KECAKQGKMP | CYFDLIEENV | YLTERKKNKS | HRDIKRMQCE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| CTPLSKDERA | QGEIACGEDC | LNRLLMIECS | SRCPNGDYCS | NRRFQRKQHA | DVEVILTEKK |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| GWGLRAAKDL | PSNTFVLEYC | GEVLDHKEFK | ARVKEYARNK | NIHYYFMALK | NDEIIDATQK |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| GNCSRFMNHS | CEPNCETQKW | TVNGQLRVGF | FTTKLVPSGS | ELTFDYQFQR | YGKEAQKCFC |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| GSANCRGYLG | GENRVSIRAA | GGKMKKERSR | KKDSVDGELE | ALMENGEGLS | DKNQVLSLSR |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LMVRIETLEQ | KLTCLELIQN | THSQSCLKSF | LERHGLSLLW | IWMAELGDGR | ESNQKLQEEI |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| IKTLEHLPIP | TKNMLEESKV | LPIIQRWSQT | KTAVPPLSEG | DGYSSENTSR | AHTPLNTPDP |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| STKLSTEADT | DTPKKLMFRR | LKIISENSMD | SAISDATSEL | EGKDGKEDLD | QLENVPVEEE |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| EELQSQQLLP | QQLPECKVDS | ETNIEASKLP | TSEPEADAEI | EPKESNGTKL | EEPINEETPS |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| QDEEEGVSDV | ESERSQEQPD | KTVDISDLAT | KLLDSWKDLK | EVYRIPKKSQ | TEKENTTTER |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| GRDAVGFRDQ | TPAPKTPNRS | RERDPDKQTQ | NKEKRKRRSS | LSPPSSAYER | GTKRPDDRYD |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| TPTSKKKVRI | KDRNKLSTEE | RRKLFEQEVA | QREAQKQQQQ | MQNLGMTSPL | PYDSLGYNAP |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| HHPFAGYPPG | YPMQAYVDPS | NPNAGKVLLP | TPSMDPVCSP | APYDHAQPLV | GHSTEPLSAP |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| PPVPVVPHVA | APVEVSSSQY | VAQSDGVVHQ | DSSVAVLPVP | APGPVQGQNY | SVWDSNQQSV |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| SVQQQYSPAQ | SQATIYYQGQ | TCPTVYGVTS | PYSQTTPPIV | QSYAQPSLQY | IQGQQIFTAH |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| PQGVVVQPAA | AVTTIVAPGQ | PQPLQPSEMV | VTNNLLDLPP | PSPPKPKTIV | LPPNWKTARD |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| PEGKIYYYHV | ITRQTQWDPP | TWESPGDDAS | LEHEAEMDLG | TPTYDENPMK | ASKKPKTAEA |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| DTSSELAKKS | KEVFRKEMSQ | FIVQCLNPYR | KPDCKVGRIT | TTEDFKHLAR | KLTHGVMNKE |
| 2530 | 2540 | 2550 | 2560 | ||
| LKYCKNPEDL | ECNENVKHKT | KEYIKKYMQK | FGAVYKPKED | TELE |