P78346 · RPP30_HUMAN
- ProteinRibonuclease P protein subunit p30
- GeneRPP30
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids268 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
rs1429513141 | 2 | A>P | TOPMed gnomAD | |||
rs1429513141 | 2 | A>T | TOPMed gnomAD | |||
COSV99056773 rs778114019 | 2 | A>V | cosmic curated ExAC TOPMed gnomAD | |||
rs749077365 | 3 | V>G | ExAC TOPMed gnomAD | |||
rs1223371514 | 3 | V>M | TOPMed gnomAD | |||
rs770645747 | 4 | F>L | ExAC gnomAD | |||
rs1846780848 | 4 | F>S | TOPMed | |||
rs778689359 | 5 | A>E | ExAC gnomAD | |||
rs373589536 | 5 | A>S | ESP TOPMed gnomAD | |||
COSV53298640 rs373589536 | 5 | A>T | cosmic curated ESP TOPMed gnomAD | |||
COSV53297886 | 6 | D>N | cosmic curated | |||
rs1846781390 | 6 | D>Y | Ensembl | |||
rs1354806374 | 7 | L>* | TOPMed gnomAD | |||
rs745752953 | 7 | L>V | ExAC gnomAD | |||
rs991727499 | 8 | D>E | TOPMed gnomAD | |||
rs772075340 | 8 | D>H | ExAC TOPMed gnomAD | |||
COSV53297304 | 8 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs772075340 | 8 | D>Y | ExAC TOPMed gnomAD | |||
rs201210847 | 9 | L>M | 1000Genomes ExAC TOPMed gnomAD | |||
COSV99521095 rs201210847 | 9 | L>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs1422966852 | 10 | R>Q | TOPMed gnomAD | |||
rs555132495 | 11 | A>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs41286916 | 11 | A>V | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
VAR_051870 COSV53295833 rs11544145 | 12 | G>D | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs11544145 | 12 | G>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs918953028 | 13 | S>A | Ensembl | |||
rs967666001 | 13 | S>C | TOPMed gnomAD | |||
rs967666001 | 13 | S>F | TOPMed gnomAD | |||
COSV53296973 | 13 | S>P | cosmic curated | |||
COSV53298253 | 14 | D>N | cosmic curated | |||
rs756283432 | 14 | D>Y | ExAC gnomAD | |||
rs757489562 | 15 | L>P | ExAC TOPMed gnomAD | |||
rs757489562 | 15 | L>Q | ExAC TOPMed gnomAD | |||
rs151063896 | 15 | L>V | ESP ExAC TOPMed gnomAD | |||
rs778636327 | 16 | K>N | ExAC TOPMed gnomAD | |||
rs912731172 | 17 | A>P | TOPMed | |||
rs912731172 | 17 | A>S | TOPMed | |||
rs758257601 | 17 | A>V | ExAC TOPMed gnomAD | |||
rs780108611 | 18 | L>P | ExAC gnomAD | |||
rs1337222387 | 18 | L>V | Ensembl | |||
COSV53295366 rs377658471 | 19 | R>C | cosmic curated ESP TOPMed gnomAD | |||
rs377658471 | 19 | R>S | ESP TOPMed gnomAD | |||
rs1412864181 | 20 | G>* | gnomAD | |||
rs1412864181 COSV53296046 | 20 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | gnomAD NCI-TCGA Cosmic cosmic curated | ||
rs987205435 | 21 | L>I | Ensembl | |||
rs931325071 | 21 | L>P | TOPMed | |||
rs746928272 | 22 | V>G | ExAC gnomAD | |||
rs563523052 | 22 | V>L | 1000Genomes | |||
rs563523052 | 22 | V>M | 1000Genomes | |||
rs768158391 | 23 | E>A | ExAC TOPMed gnomAD | |||
rs577470288 | 23 | E>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs768158391 | 23 | E>G | ExAC TOPMed gnomAD | |||
rs1846783313 | 23 | E>Q | TOPMed gnomAD | |||
rs1846783500 | 24 | T>A | gnomAD | |||
rs1338110814 | 24 | T>I | gnomAD | |||
rs769611170 | 25 | A>T | ExAC gnomAD | |||
rs1283564834 | 25 | A>V | gnomAD | |||
rs1216983564 | 26 | A>P | TOPMed gnomAD | |||
COSV53296076 | 26 | A>S | cosmic curated | |||
rs1216983564 | 26 | A>T | TOPMed gnomAD | |||
rs1846783800 | 26 | A>V | gnomAD | |||
COSV53296020 | 27 | H>D | cosmic curated | |||
rs370845900 | 28 | L>I | ESP ExAC TOPMed gnomAD | |||
rs1162358643 | 29 | G>S | gnomAD | |||
rs1846830952 | 30 | Y>H | TOPMed | |||
rs1846831039 | 31 | S>* | Ensembl | |||
COSV53296477 | 31 | S>L | cosmic curated | |||
COSV53295911 | 34 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs980051325 | 35 | I>V | TOPMed gnomAD | |||
rs770517397 | 36 | N>K | ExAC TOPMed gnomAD | |||
rs1193943591 | 36 | N>S | TOPMed gnomAD | |||
rs1398880047 | 36 | N>Y | gnomAD | |||
rs780431512 | 37 | H>N | ExAC TOPMed gnomAD | |||
rs1554861665 | 37 | H>R | gnomAD | |||
COSV53296873 | 37 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs769136757 | 38 | I>V | ExAC TOPMed gnomAD | |||
rs777057864 | 39 | V>I | ExAC TOPMed gnomAD | |||
COSV53297083 rs762322252 | 40 | D>N | cosmic curated ExAC | |||
COSV104587976 | 40 | D>V | cosmic curated | |||
rs1846831669 | 41 | F>S | TOPMed gnomAD | |||
COSV104587952 | 41 | F>Y | cosmic curated | |||
rs769816176 | 42 | K>R | ExAC gnomAD | |||
rs1483635391 | 43 | E>G | TOPMed gnomAD | |||
rs763206901 | 43 | E>K | ExAC gnomAD | |||
rs2120180641 | 44 | K>E | Ensembl | |||
rs140972342 | 44 | K>N | 1000Genomes ESP ExAC TOPMed gnomAD | |||
TCGA novel | 46 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs751359505 | 46 | Q>P | ExAC gnomAD | |||
rs751359505 | 46 | Q>R | ExAC gnomAD | |||
COSV53297506 | 47 | E>G | cosmic curated | |||
COSV106388176 | 47 | E>Q | cosmic curated | |||
TCGA novel | 48 | I>M | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs763986803 | 49 | E>D | ExAC gnomAD | |||
rs760658677 | 49 | E>G | ExAC TOPMed gnomAD | |||
rs372840568 | 49 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | ||
rs1589493321 | 50 | K>N | Ensembl | |||
rs1846840450 | 51 | P>A | gnomAD | |||
rs1846840494 | 51 | P>L | TOPMed | |||
rs1368640914 | 52 | V>G | gnomAD | |||
rs1299330240 | 53 | A>D | gnomAD | |||
COSV53296673 rs1388736126 | 53 | A>S | cosmic curated gnomAD | |||
rs1299330240 | 53 | A>V | gnomAD | |||
rs1330571363 | 54 | V>L | gnomAD | |||
rs1002907982 | 55 | S>C | Ensembl | |||
rs866789028 | 57 | L>F | Ensembl | |||
rs1286691860 | 57 | L>P | gnomAD | |||
rs764819242 | 59 | T>I | ExAC TOPMed gnomAD | |||
rs376335849 | 59 | T>S | ESP ExAC TOPMed gnomAD | |||
rs1259924584 | 60 | T>A | gnomAD | |||
rs750030385 | 60 | T>S | ExAC TOPMed gnomAD | |||
rs1846841158 | 62 | P>L | gnomAD | |||
rs369833305 | 63 | I>V | ESP TOPMed gnomAD | |||
TCGA novel | 65 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV53295992 | 65 | Q>R | cosmic curated | |||
rs762362994 | 66 | G>E | TOPMed gnomAD | |||
rs1846847365 | 67 | K>R | Ensembl | |||
COSV99520696 | 68 | S>L | cosmic curated | |||
rs2120183127 | 71 | I>V | Ensembl | |||
rs749975474 | 72 | K>* | ExAC gnomAD | |||
COSV53296780 | 72 | K>T | cosmic curated | |||
rs766081200 | 73 | I>M | ExAC | |||
rs758027812 | 73 | I>V | ExAC TOPMed gnomAD | |||
rs1163038130 | 74 | L>S | gnomAD | |||
rs1417430907 | 75 | T>A | gnomAD | |||
rs1466334493 | 76 | R>G | TOPMed gnomAD | |||
rs753058698 | 76 | R>S | ExAC TOPMed gnomAD | |||
COSV53295160 | 78 | T>I | cosmic curated | |||
rs778210249 | 79 | I>M | ExAC gnomAD | |||
rs1846847864 | 79 | I>S | gnomAD | |||
rs1327770843 | 79 | I>V | Ensembl | |||
rs142106509 | 80 | I>T | 1000Genomes ExAC gnomAD | |||
rs147884661 | 81 | V>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
COSV107204546 rs141541697 | 82 | S>L | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
rs772408477 | 83 | D>A | ExAC gnomAD | |||
COSV53295855 | 83 | D>N | cosmic curated | |||
COSV53297664 | 83 | D>Y | cosmic curated | |||
rs1846848300 | 85 | S>C | TOPMed gnomAD | |||
COSV107204555 | 85 | S>F | cosmic curated | |||
rs1846848390 | 87 | C>G | Ensembl | |||
rs1846848430 | 88 | N>D | TOPMed | |||
rs767952806 | 88 | N>K | Ensembl | |||
rs775920689 | 88 | N>S | ExAC gnomAD | |||
rs934416789 | 89 | V>I | TOPMed | |||
COSV105116560 | 90 | L>* | cosmic curated | |||
rs747258607 | 90 | L>W | ExAC gnomAD | |||
rs773069991 | 91 | R>K | ExAC TOPMed gnomAD | |||
COSV53297533 | 91 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1383015717 | 92 | A>V | TOPMed gnomAD | |||
rs950545727 | 93 | T>A | TOPMed gnomAD | |||
rs950545727 | 93 | T>P | TOPMed gnomAD | |||
COSV53295261 | 96 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs565849953 | 96 | R>S | 1000Genomes ExAC gnomAD | |||
rs770376071 | 96 | R>T | ExAC gnomAD | |||
rs1416149108 | 97 | A>D | TOPMed gnomAD | |||
rs1416149108 | 97 | A>V | TOPMed gnomAD | |||
COSV53296459 | 98 | R>L | cosmic curated | |||
rs767244151 | 98 | R>Q | ExAC gnomAD | |||
rs759076589 | 98 | R>W | ExAC TOPMed gnomAD | |||
rs754138092 | 100 | Y>C | ExAC gnomAD | |||
rs754138092 | 100 | Y>F | ExAC gnomAD | |||
rs1846890068 | 100 | Y>H | TOPMed gnomAD | |||
COSV53296917 | 101 | D>A | cosmic curated | |||
rs1162291015 | 101 | D>H | TOPMed gnomAD | |||
rs1162291015 | 101 | D>Y | TOPMed gnomAD | |||
rs1429554236 | 102 | V>A | TOPMed gnomAD | |||
COSV53296582 | 104 | A>V | cosmic curated | |||
rs765698946 | 105 | V>F | ExAC gnomAD | |||
rs147735522 | 113 | F>L | ESP ExAC TOPMed gnomAD | |||
rs1304733241 | 113 | F>S | Variant of uncertain significance (Ensembl) | gnomAD | ||
TCGA novel | 114 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs751709810 | 114 | H>R | ExAC gnomAD | |||
rs1361952972 | 115 | I>T | gnomAD | |||
COSV99520997 | 115 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs752919026 | 117 | C>Y | ExAC gnomAD | |||
COSV99520834 | 121 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1163563364 | 122 | V>M | TOPMed gnomAD | |||
rs756357984 | 125 | V>L | ExAC TOPMed gnomAD | |||
COSV53298051 | 126 | C>F | cosmic curated | |||
rs777511045 | 126 | C>R | ExAC gnomAD | |||
rs777511045 | 126 | C>S | ExAC gnomAD | |||
rs1048418628 | 127 | I>M | TOPMed gnomAD | |||
rs1846993630 | 129 | V>A | TOPMed | |||
COSV53296271 | 129 | V>E | cosmic curated | |||
rs1255232367 | 129 | V>I | TOPMed gnomAD | |||
rs1255232367 | 129 | V>L | TOPMed gnomAD | |||
rs1230759778 | 130 | T>A | TOPMed | |||
COSV99520814 | 131 | E>* | cosmic curated | |||
COSV99520684 rs778974767 | 131 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs745798259 | 132 | K>I | ExAC TOPMed gnomAD | |||
rs745798259 | 132 | K>R | ExAC TOPMed gnomAD | |||
rs199793690 | 133 | L>P | ESP ExAC TOPMed gnomAD | |||
rs199710578 | 134 | P>L | 1000Genomes ExAC gnomAD | |||
rs199710578 | 134 | P>R | 1000Genomes ExAC gnomAD | |||
rs1348660616 | 134 | P>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs746630320 | 138 | K>R | ExAC TOPMed gnomAD | |||
rs185464759 | 139 | R>K | 1000Genomes ExAC gnomAD | |||
TCGA novel | 140 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs895501068 | 140 | P>L | gnomAD | |||
COSV107204544 rs1459168167 | 140 | P>S | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | ||
rs149193090 | 141 | P>A | ESP ExAC TOPMed gnomAD | |||
COSV53295769 | 141 | P>H | cosmic curated | |||
rs554911549 | 144 | V>L | 1000Genomes ExAC TOPMed gnomAD | |||
COSV99520854 | 144 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV108071176 rs768419490 | 145 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs771280472 | 146 | I>N | ExAC TOPMed gnomAD | |||
rs771280472 | 146 | I>T | ExAC TOPMed gnomAD | |||
COSV99521023 rs376621947 | 146 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV53297632 | 147 | D>G | cosmic curated | |||
rs760053492 | 148 | R>* | ExAC gnomAD | |||
rs772501376 | 148 | R>Q | ExAC gnomAD | |||
rs962295699 | 149 | G>D | Ensembl | |||
COSV53296953 rs962295699 | 149 | G>V | cosmic curated Ensembl | |||
rs1342685311 | 151 | A>P | gnomAD | |||
rs1847120815 | 151 | A>V | TOPMed | |||
rs1295004229 | 153 | E>K | TOPMed gnomAD | |||
rs370703993 | 154 | L>F | ESP ExAC TOPMed gnomAD | |||
rs761961036 | 155 | V>A | ExAC gnomAD | |||
rs761961036 | 155 | V>D | ExAC gnomAD | |||
rs1847121069 | 155 | V>F | TOPMed gnomAD | |||
rs1847121069 | 155 | V>L | TOPMed gnomAD | |||
rs923550334 | 156 | Y>C | TOPMed gnomAD | |||
rs1847121232 | 157 | S>I | TOPMed | |||
rs765040581 | 157 | S>R | ExAC TOPMed gnomAD | |||
rs1486665912 | 159 | A>G | gnomAD | |||
rs758345797 | 159 | A>P | ExAC TOPMed gnomAD | |||
rs758345797 | 159 | A>T | ExAC TOPMed gnomAD | |||
rs1202982945 | 160 | I>V | gnomAD | |||
rs189155403 | 161 | K>E | 1000Genomes ExAC TOPMed gnomAD | |||
rs1433269417 | 162 | D>Y | gnomAD | |||
COSV53297848 rs1393864852 | 163 | S>F | cosmic curated gnomAD | |||
rs201662404 | 164 | T>A | 1000Genomes ExAC TOPMed gnomAD | |||
COSV53295961 | 165 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs754483822 | 165 | M>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs754483822 | 165 | M>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs374236929 | 166 | R>K | ESP ExAC TOPMed gnomAD | |||
rs377631920 | 166 | R>S | ESP ExAC TOPMed gnomAD | |||
rs1288547413 | 167 | R>S | TOPMed gnomAD | |||
rs769375015 | 167 | R>T | ExAC | |||
rs746274113 | 168 | Y>* | ExAC gnomAD | |||
rs779310913 | 168 | Y>C | ExAC TOPMed gnomAD | |||
COSV53296198 rs1301325714 | 169 | T>R | cosmic curated gnomAD | |||
rs1847121988 | 170 | I>V | Ensembl | |||
COSV99520841 rs2120225349 | 171 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | ||
rs936427666 | 172 | S>N | Ensembl | |||
rs181966124 | 173 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes dbSNP | ||
COSV99520637 | 174 | L>I | cosmic curated | |||
rs148223550 | 175 | N>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1847122231 | 175 | N>S | Ensembl | |||
rs776721938 | 177 | M>I | ExAC TOPMed gnomAD | |||
rs1236528338 | 177 | M>L | gnomAD | |||
COSV53296107 | 177 | M>T | cosmic curated | |||
rs1236528338 | 177 | M>V | gnomAD | |||
rs1228006734 | 178 | Q>E | TOPMed | |||
rs762062686 | 178 | Q>H | ExAC gnomAD | |||
rs769295155 | 180 | C>S | TOPMed gnomAD | |||
rs951743316 | 181 | K>T | TOPMed | |||
COSV99521071 | 182 | G>* | cosmic curated | |||
rs1468462824 | 183 | K>M | gnomAD | |||
COSV53297970 | 183 | K>N | cosmic curated | |||
rs1468462824 | 183 | K>R | gnomAD | |||
rs753382450 | 184 | N>K | ExAC TOPMed | |||
COSV104587967 | 186 | I>N | cosmic curated | |||
rs1436373999 | 186 | I>V | gnomAD | |||
COSV99520790 rs1310837333 | 187 | I>M | cosmic curated TOPMed gnomAD | |||
rs1554863088 | 187 | I>V | Ensembl | |||
COSV53296613 rs756932111 | 188 | S>C | cosmic curated ExAC TOPMed gnomAD | |||
COSV53296613 COSV99521068 | 188 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1847129330 | 189 | S>R | gnomAD | |||
rs753426783 | 193 | R>K | ExAC TOPMed gnomAD | |||
rs1847133897 | 194 | P>L | gnomAD | |||
rs763470383 | 194 | P>S | ExAC gnomAD | |||
COSV99520922 | 196 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1847134005 | 197 | I>M | TOPMed | |||
rs1020620061 | 197 | I>V | TOPMed gnomAD | |||
rs1232101316 | 199 | G>R | gnomAD | |||
TCGA novel | 200 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV53298485 | 201 | Y>C | cosmic curated | |||
rs756880890 | 202 | D>E | ExAC TOPMed gnomAD | |||
COSV53296413 COSV53296719 rs764936639 | 203 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD | ||
COSV53296413 COSV53296719 rs764936639 | 203 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV108071178 rs1191694156 | 204 | A>T | cosmic curated gnomAD | |||
rs1847134297 | 206 | L>I | Ensembl | |||
rs145322778 | 207 | G>A | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs145322778 | 207 | G>D | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs771713102 | 207 | G>S | ExAC gnomAD | |||
rs145322778 | 207 | G>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
COSV53298085 | 208 | L>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs550432912 | 210 | F>L | 1000Genomes ExAC TOPMed gnomAD | |||
rs1419480750 | 211 | G>A | gnomAD | |||
rs570515797 | 214 | E>V | 1000Genomes | |||
rs764741484 | 216 | D>E | ExAC TOPMed gnomAD | |||
rs1564715309 | 216 | D>V | Ensembl | |||
rs137907824 | 217 | A>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
COSV53295404 rs137907824 | 217 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV53295340 rs762627803 | 217 | A>V | cosmic curated ExAC TOPMed gnomAD | |||
COSV53297465 | 218 | K>N | cosmic curated | |||
rs753158420 | 219 | A>P | ExAC TOPMed gnomAD | |||
rs756568497 | 220 | A>S | ExAC gnomAD | |||
COSV99520857 rs868665866 | 220 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs778408171 | 221 | V>M | ExAC TOPMed gnomAD | |||
COSV53296236 | 222 | S>F | cosmic curated | |||
COSV53296740 | 222 | S>P | cosmic curated | |||
COSV53297800 | 222 | S>Y | cosmic curated | |||
rs757345207 | 224 | N>S | ExAC TOPMed gnomAD | |||
COSV106055641 rs142339922 | 226 | R>* | cosmic curated ESP ExAC TOPMed gnomAD | |||
rs746046571 | 226 | R>L | ExAC gnomAD | |||
COSV99521020 rs746046571 | 226 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs772376915 | 227 | A>T | ExAC TOPMed gnomAD | |||
rs779691045 | 227 | A>V | ExAC gnomAD | |||
rs535330785 | 228 | A>G | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs566449413 | 228 | A>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs535330785 | 228 | A>V | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1476083412 | 229 | L>R | gnomAD | |||
rs1847139366 | 230 | L>F | TOPMed | |||
rs762574593 | 231 | H>N | ExAC TOPMed gnomAD | |||
rs112020240 | 231 | H>P | gnomAD | |||
COSV99520693 rs112020240 | 231 | H>R | cosmic curated gnomAD | |||
rs762574593 | 231 | H>Y | ExAC TOPMed gnomAD | |||
rs528447803 | 233 | E>G | 1000Genomes TOPMed gnomAD | |||
rs528447803 | 233 | E>V | 1000Genomes TOPMed gnomAD | |||
COSV53296546 rs139597628 | 235 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
rs1052741920 | 236 | K>Q | TOPMed gnomAD | |||
rs747210339 | 238 | A>T | ExAC gnomAD | |||
COSV99520589 | 238 | A>V | cosmic curated | |||
rs979546822 | 239 | F>L | TOPMed | |||
rs754754213 | 239 | F>L | ExAC TOPMed gnomAD | |||
rs1488724602 | 240 | G>R | gnomAD | |||
rs1847188486 | 241 | I>V | TOPMed gnomAD | |||
rs1305476162 | 242 | I>F | gnomAD | |||
rs753787570 | 242 | I>T | TOPMed gnomAD | |||
rs1305476162 | 242 | I>V | gnomAD | |||
rs780998177 | 243 | S>A | ExAC gnomAD | |||
rs1847188657 | 243 | S>F | Ensembl | |||
rs769774903 | 244 | T>A | ExAC gnomAD | |||
rs1260960857 | 244 | T>I | gnomAD | |||
rs1395217848 | 247 | K>R | Ensembl | |||
rs1202924095 | 248 | P>L | TOPMed gnomAD | |||
rs772699207 | 248 | P>S | ExAC TOPMed gnomAD | |||
COSV53296445 rs185152546 | 249 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
COSV105842274 rs748899504 | 249 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs773991831 | 251 | S>L | ExAC | |||
COSV107204545 | 253 | G>* | cosmic curated | |||
rs989079033 | 253 | G>E | TOPMed | |||
rs759130030 | 253 | G>R | ExAC gnomAD | |||
COSV99520686 | 253 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1847189552 | 254 | D>E | Ensembl | |||
rs149301882 | 254 | D>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs777173529 | 256 | D>V | ExAC gnomAD | |||
rs762386476 | 257 | C>Y | ExAC TOPMed gnomAD | |||
rs144567016 | 258 | L>P | ESP TOPMed | |||
rs1451851105 | 259 | P>A | gnomAD | |||
rs1451851105 | 259 | P>S | gnomAD | |||
rs1653163553 | 260 | A>P | Ensembl | |||
rs1847189746 | 261 | S>A | gnomAD | |||
rs765902589 | 261 | S>F | ExAC gnomAD | |||
rs1013969651 | 262 | K>R | TOPMed gnomAD | |||
rs1327851879 | 263 | K>N | TOPMed gnomAD | |||
COSV53298409 | 264 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs985611123 | 266 | C>S | TOPMed | |||
rs201939715 | 267 | E>A | TOPMed gnomAD | |||
rs1847190010 | 267 | E>D | Ensembl | |||
rs201939715 | 267 | E>V | TOPMed gnomAD | |||
rs1386063756 | 268 | G>C | gnomAD | |||
rs1386063756 | 268 | G>S | gnomAD | |||