Q92979 · NEP1_HUMAN
- ProteinRibosomal RNA small subunit methyltransferase NEP1
- GeneEMG1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids244 (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 | |
---|---|---|---|---|---|---|
rs1946314969 | 2 | A>T | Ensembl | |||
rs1555152059 | 2 | A>V | gnomAD | |||
COSV99781266 | 4 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs376055535 | 5 | S>G | ESP ExAC TOPMed gnomAD | |||
rs149578211 | 5 | S>R | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs1555152065 | 6 | D>E | TOPMed gnomAD | |||
rs782711576 | 6 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP gnomAD | ||
rs782118451 | 7 | G>* | ExAC TOPMed gnomAD | |||
rs782778398 | 7 | G>A | ExAC TOPMed gnomAD | |||
rs782778398 | 7 | G>E | ExAC TOPMed gnomAD | |||
rs782118451 | 7 | G>R | ExAC TOPMed gnomAD | |||
rs782778398 | 7 | G>V | ExAC TOPMed gnomAD | |||
rs782550075 | 8 | F>L | ExAC TOPMed gnomAD | |||
rs1231453871 | 8 | F>V | TOPMed | |||
rs782722332 | 9 | K>N | ExAC TOPMed gnomAD | |||
rs1320278594 | 10 | P>S | TOPMed gnomAD | |||
rs782479150 | 11 | R>C | ExAC gnomAD | |||
rs372361920 | 11 | R>P | ESP TOPMed gnomAD | |||
rs782479150 | 11 | R>S | ExAC gnomAD | |||
rs1555152086 | 12 | E>K | gnomAD | |||
rs782628939 | 13 | R>* | ExAC TOPMed gnomAD | |||
CA6422610 RCV000514815 rs36061201 | 13 | R>L | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
rs782546340 | 14 | S>N | ExAC gnomAD | |||
rs782249279 | 14 | S>R | Likely benign (Ensembl) | TOPMed | ||
rs782546340 | 14 | S>T | ExAC gnomAD | |||
rs782175380 | 15 | G>C | ExAC gnomAD | |||
rs782604752 | 16 | G>E | ExAC TOPMed gnomAD | |||
rs782324364 | 16 | G>W | ExAC gnomAD | |||
rs1338492839 | 17 | E>V | TOPMed | |||
rs782233712 | 18 | Q>E | ExAC TOPMed gnomAD | |||
rs1402722258 | 18 | Q>R | TOPMed gnomAD | |||
rs369617092 | 19 | A>S | ESP ExAC TOPMed gnomAD | |||
rs369617092 | 19 | A>T | ESP ExAC TOPMed gnomAD | |||
rs1555152118 | 19 | A>V | gnomAD | |||
rs1946316616 | 20 | Q>K | Ensembl | |||
rs782150637 | 20 | Q>R | ExAC gnomAD | |||
rs906784380 | 21 | D>E | gnomAD | |||
rs782438220 | 21 | D>N | ExAC gnomAD | |||
rs1946316791 | 22 | W>* | TOPMed | |||
rs1555152123 | 22 | W>C | gnomAD | |||
rs1555152124 | 23 | D>N | gnomAD | |||
rs1555152126 | 24 | A>D | gnomAD | |||
rs1555152130 | 25 | L>P | gnomAD | |||
rs781925110 | 25 | L>V | ExAC gnomAD | |||
rs782075048 | 27 | P>H | ExAC TOPMed gnomAD | |||
rs782075048 | 27 | P>L | ExAC TOPMed gnomAD | |||
rs782743040 | 28 | K>Q | ExAC TOPMed gnomAD | |||
rs1003756868 | 28 | K>R | TOPMed gnomAD | |||
rs1003756868 | 28 | K>T | TOPMed gnomAD | |||
rs1946317313 | 29 | R>Q | Ensembl | |||
rs781851789 | 30 | P>L | ExAC gnomAD | |||
rs782126924 | 31 | R>* | ExAC TOPMed gnomAD | |||
rs782126924 | 31 | R>G | ExAC TOPMed gnomAD | |||
rs1946317614 | 32 | L>Q | TOPMed gnomAD | |||
rs1946317570 | 32 | L>V | TOPMed gnomAD | |||
rs1370835199 | 33 | G>E | TOPMed gnomAD | |||
VAR_050237 CA249018 RCV000202817 RCV004708102 rs11064480 | 34 | A>G | Benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
rs782495453 | 34 | A>S | 1000Genomes ExAC TOPMed gnomAD | |||
rs782495453 | 34 | A>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs3168594 | 35 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | ||
rs952438354 | 37 | K>E | Ensembl | |||
rs781824161 | 38 | I>S | ExAC TOPMed gnomAD | |||
rs782633987 | 39 | G>E | ExAC TOPMed gnomAD | |||
rs1555152153 | 40 | G>D | gnomAD | |||
rs782266941 | 41 | R>C | ExAC TOPMed gnomAD | |||
rs782414000 | 41 | R>H | ExAC gnomAD | |||
rs782266941 | 41 | R>S | ExAC TOPMed gnomAD | |||
rs200041551 | 42 | R>G | Ensembl | |||
TCGA novel | 42 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs17857448 | 42 | R>S | 1000Genomes ExAC TOPMed gnomAD | |||
RCV000947413 RCV001664562 rs60117710 | 43 | L>missing | Bowen-Conradi syndrome (ClinVar) | Benign (ClinVar) | ClinVar dbSNP | |
rs1946318498 | 43 | L>F | Ensembl | |||
rs1946318498 | 43 | L>I | Ensembl | |||
TCGA novel | 43 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1946318498 | 43 | L>V | Ensembl | |||
rs1946318642 | 44 | I>V | Ensembl | |||
rs1946318693 | 45 | V>A | TOPMed | |||
rs1946318786 | 46 | V>L | TOPMed | |||
rs1946318786 | 46 | V>M | TOPMed | |||
rs1218217281 | 48 | E>K | TOPMed | |||
rs781966739 | 50 | A>T | ExAC gnomAD | |||
COSV54641183 | 50 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs782103478 | 51 | S>I | ExAC TOPMed gnomAD | |||
rs375042715 | 52 | L>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1555152172 | 54 | T>I | gnomAD | |||
rs1555152177 | 55 | V>I | gnomAD | |||
rs1591705284 | 56 | K>Q | Ensembl | |||
rs2138320729 | 57 | V>A | Ensembl | |||
rs1555152678 | 59 | K>R | gnomAD | |||
rs373473870 | 61 | Y>* | ESP ExAC TOPMed gnomAD | |||
rs782339755 | 61 | Y>C | ExAC gnomAD | |||
rs782793844 | 63 | L>V | ExAC gnomAD | |||
rs782174904 | 65 | N>S | ExAC gnomAD | |||
rs1464487209 | 66 | C>Y | TOPMed | |||
rs782707397 | 67 | D>E | ExAC gnomAD | |||
rs1946367333 | 67 | D>N | TOPMed gnomAD | |||
rs782483867 | 69 | H>R | ExAC gnomAD | |||
rs782521916 | 72 | I>M | ExAC TOPMed gnomAD | |||
rs377272519 | 72 | I>T | ESP ExAC TOPMed gnomAD | |||
rs782749715 | 72 | I>V | ExAC TOPMed gnomAD | |||
rs1946367789 | 73 | L>* | TOPMed | |||
rs782172949 | 73 | L>F | ExAC TOPMed gnomAD | |||
COSV99781271 | 74 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1555152708 | 76 | N>D | gnomAD | |||
rs1555152709 | 76 | N>S | gnomAD | |||
rs782601712 | 77 | G>E | ExAC gnomAD | |||
rs782179643 | 78 | R>G | 1000Genomes ExAC TOPMed gnomAD | |||
rs782693598 | 78 | R>Q | ExAC TOPMed gnomAD | |||
rs782179643 | 78 | R>W | 1000Genomes ExAC TOPMed gnomAD | |||
rs1387282151 | 79 | D>G | TOPMed gnomAD | |||
rs1555152718 | 79 | D>Y | gnomAD | |||
rs782276276 | 81 | G>V | ExAC TOPMed gnomAD | |||
rs782422549 | 83 | A>G | ExAC TOPMed gnomAD | |||
rs1555152726 | 83 | A>T | gnomAD | |||
COSV54641935 rs782422549 | 83 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
rs782735967 | 84 | R>Q | ExAC gnomAD | |||
rs2138320973 | 85 | P>T | Ensembl | |||
VAR_062480 CA114613 RCV000000938 rs74435397 | 86 | D>G | BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein (UniProt) Bowen-conradi syndrome (bwcns) (Ensembl) Bowen-Conradi syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |
rs782803599 | 87 | I>T | ExAC gnomAD | |||
rs781896004 | 88 | T>A | ExAC gnomAD | |||
rs1392318274 | 89 | H>Y | TOPMed gnomAD | |||
rs782703604 | 90 | Q>E | ExAC gnomAD | |||
rs1555152776 | 91 | S>G | gnomAD | |||
rs781910054 | 94 | M>I | ExAC gnomAD | |||
rs782169084 | 94 | M>R | 1000Genomes ExAC TOPMed gnomAD | |||
rs782580920 | 95 | L>P | ExAC gnomAD | |||
rs782456048 | 95 | L>V | ExAC gnomAD | |||
rs1736853731 | 96 | M>L | TOPMed | |||
rs781831826 | 98 | S>N | ExAC gnomAD | |||
rs782486688 | 99 | P>L | ExAC gnomAD | |||
rs782438469 | 100 | L>M | 1000Genomes ExAC TOPMed gnomAD | |||
COSV54641743 | 101 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV54641500 rs782418214 | 102 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
rs782563434 | 102 | R>Q | ExAC gnomAD | |||
rs782190613 | 103 | A>G | ExAC gnomAD | |||
rs782190613 | 103 | A>V | ExAC gnomAD | |||
rs1256862599 | 104 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs1256862599 | 104 | G>V | TOPMed gnomAD | |||
rs781966629 | 106 | L>V | ExAC gnomAD | |||
rs1555152797 | 107 | Q>* | gnomAD | |||
rs782648414 | 108 | V>A | ExAC | |||
rs1946371423 | 109 | Y>C | TOPMed gnomAD | |||
rs1276535579 | 110 | I>M | TOPMed gnomAD | |||
rs1484616063 | 110 | I>S | TOPMed gnomAD | |||
rs993652525 | 111 | H>R | TOPMed gnomAD | |||
rs199566199 | 113 | Q>E | ESP ExAC TOPMed gnomAD | |||
rs1946371632 | 113 | Q>L | TOPMed | |||
rs782018212 | 114 | K>* | ExAC TOPMed | |||
rs1555152809 | 114 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | ||
rs782018212 | 114 | K>Q | ExAC TOPMed | |||
rs1946371822 | 115 | N>H | TOPMed gnomAD | |||
rs1555152813 | 115 | N>S | gnomAD | |||
TCGA novel | 116 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs782169969 | 118 | I>T | ExAC TOPMed gnomAD | |||
rs1246417980 | 118 | I>V | TOPMed gnomAD | |||
rs1555152817 | 120 | V>L | TOPMed gnomAD | |||
rs1555152817 | 120 | V>M | TOPMed gnomAD | |||
rs781939868 | 122 | P>A | ExAC TOPMed gnomAD | |||
rs781812160 | 122 | P>R | 1000Genomes ExAC gnomAD | |||
rs1555152820 | 124 | T>I | gnomAD | |||
rs1555152820 | 124 | T>N | gnomAD | |||
rs782538249 | 125 | R>* | ExAC TOPMed gnomAD | |||
COSV54642042 rs1555152823 | 125 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | ||
rs1309066030 | 127 | P>L | TOPMed gnomAD | |||
rs782808257 | 129 | T>I | ExAC TOPMed gnomAD | |||
rs1946372469 | 131 | D>G | Ensembl | |||
rs1946372504 | 132 | R>C | TOPMed | |||
COSV99781199 | 132 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs782453517 | 133 | F>L | ExAC gnomAD | |||
rs782226901 | 136 | L>H | ExAC | |||
rs1946372686 | 137 | M>V | TOPMed | |||
rs1946377986 | 139 | Q>* | TOPMed | |||
rs781867583 | 141 | L>V | ExAC TOPMed gnomAD | |||
TCGA novel rs1946378164 | 145 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | ||
rs782548320 | 145 | S>N | ExAC gnomAD | |||
rs782675633 | 146 | V>A | ExAC gnomAD | |||
rs782181464 | 147 | R>* | ExAC TOPMed gnomAD | |||
rs782181464 | 147 | R>G | ExAC TOPMed gnomAD | |||
COSV54643253 rs1555152914 | 147 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | ||
rs1171472029 | 149 | A>P | TOPMed gnomAD | |||
rs1946378570 | 150 | D>G | TOPMed | |||
rs782235442 | 150 | D>N | ExAC TOPMed gnomAD | |||
COSV54641449 | 151 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV54641573 | 151 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs782008843 | 152 | P>L | ExAC gnomAD | |||
rs782441349 | 152 | P>T | TOPMed gnomAD | |||
rs1946378828 | 154 | K>N | TOPMed | |||
rs782301311 | 154 | K>Q | ExAC TOPMed gnomAD | |||
COSV99781002 | 155 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1555152940 | 158 | V>L | gnomAD | |||
rs782493737 | 159 | I>T | ExAC gnomAD | |||
COSV54641095 | 160 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1284796548 | 161 | N>S | TOPMed gnomAD | |||
rs781882780 | 162 | P>L | ExAC TOPMed gnomAD | |||
rs782643000 | 162 | P>S | ExAC TOPMed gnomAD | |||
rs782643000 | 162 | P>T | ExAC TOPMed gnomAD | |||
rs372110507 | 163 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs782554231 | 164 | S>* | ExAC gnomAD | |||
rs782554231 | 164 | S>L | ExAC gnomAD | |||
rs183026884 | 167 | F>L | 1000Genomes ExAC TOPMed gnomAD | |||
COSV54641717 rs1555152950 | 168 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | ||
rs1555152950 | 168 | P>Q | TOPMed gnomAD | |||
COSV54642570 | 169 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1555152952 | 169 | V>L | TOPMed gnomAD | |||
rs782334197 | 171 | C>Y | ExAC TOPMed gnomAD | |||
rs782245976 | 172 | M>I | ExAC TOPMed gnomAD | |||
rs1169305243 | 172 | M>T | Ensembl | |||
rs1555152957 | 173 | K>E | gnomAD | |||
rs782391946 | 174 | V>A | ExAC TOPMed gnomAD | |||
COSV99780921 | 177 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1555152961 | 178 | F>S | TOPMed gnomAD | |||
rs1555152961 | 178 | F>Y | TOPMed gnomAD | |||
rs782019701 | 179 | S>Y | ExAC gnomAD | |||
rs1946380787 | 181 | P>A | TOPMed | |||
rs782168206 | 181 | P>L | ExAC TOPMed gnomAD | |||
rs782168206 | 181 | P>R | ExAC TOPMed gnomAD | |||
rs782307546 | 182 | V>G | ExAC TOPMed gnomAD | |||
rs1184862119 | 182 | V>I | TOPMed gnomAD | |||
rs1202716378 | 183 | V>D | Ensembl | |||
COSV99781147 | 183 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs781937222 | 184 | S>N | ExAC TOPMed gnomAD | |||
rs1232720535 | 186 | V>A | TOPMed gnomAD | |||
rs1232720535 | 186 | V>G | TOPMed gnomAD | |||
rs201757338 | 186 | V>M | ESP ExAC TOPMed gnomAD | |||
rs782741904 | 187 | R>C | ExAC TOPMed gnomAD | |||
rs782021249 | 187 | R>H | 1000Genomes ExAC TOPMed gnomAD | |||
rs782021249 | 187 | R>L | 1000Genomes ExAC TOPMed gnomAD | |||
rs782416705 | 190 | V>L | 1000Genomes ExAC TOPMed gnomAD | |||
rs1555152978 | 193 | S>N | gnomAD | |||
rs1555152980 | 195 | P>T | TOPMed gnomAD | |||
rs375741608 | 196 | I>M | Ensembl | |||
rs782605254 | 196 | I>V | ExAC TOPMed gnomAD | |||
rs781834410 | 197 | V>A | ExAC TOPMed gnomAD | |||
rs1326057506 | 197 | V>F | TOPMed gnomAD | |||
rs1326057506 | 197 | V>I | TOPMed gnomAD | |||
rs1946381810 | 198 | F>S | TOPMed gnomAD | |||
rs1555152988 | 199 | V>A | gnomAD | |||
TCGA novel | 199 | V>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
TCGA novel | 200 | V>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1732057048 | 201 | G>E | TOPMed | |||
TCGA novel | 201 | G>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs971421303 | 202 | A>D | TOPMed | |||
rs782511052 | 202 | A>T | ExAC TOPMed gnomAD | |||
rs868957078 | 204 | A>V | Ensembl | |||
rs1591708751 | 205 | H>P | Ensembl | |||
rs1555152994 | 206 | G>D | gnomAD | |||
rs1407750518 | 207 | K>R | TOPMed | |||
rs1555153061 | 208 | V>I | gnomAD | |||
rs1946388229 | 209 | S>G | TOPMed | |||
rs1946388288 | 209 | S>N | gnomAD | |||
rs782044745 | 211 | E>A | ExAC gnomAD | |||
rs782710641 | 213 | T>I | ExAC TOPMed gnomAD | |||
rs200470095 | 214 | E>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs781943557 | 214 | E>K | ExAC gnomAD | |||
rs200470095 | 214 | E>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs782751710 | 216 | M>T | ExAC gnomAD | |||
COSV99781058 | 216 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs782527998 | 217 | V>A | ExAC TOPMed gnomAD | |||
rs781869060 | 217 | V>M | ExAC gnomAD | |||
rs1371430452 | 218 | S>F | TOPMed gnomAD | |||
rs1555153073 | 218 | S>T | gnomAD | |||
rs1371430452 | 218 | S>Y | TOPMed gnomAD | |||
rs782819014 | 219 | I>N | ExAC gnomAD | |||
rs782819014 | 219 | I>T | ExAC gnomAD | |||
rs781792612 | 220 | S>N | ExAC TOPMed gnomAD | |||
COSV54640969 | 221 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1034343918 | 222 | Y>* | gnomAD | |||
rs1258116000 | 222 | Y>C | TOPMed | |||
rs1476171611 | 222 | Y>H | TOPMed gnomAD | |||
rs74396478 | 223 | P>S | 1000Genomes ExAC gnomAD | |||
rs3180956 | 225 | S>F | Ensembl | |||
rs1555153080 | 226 | A>G | gnomAD | |||
rs782235929 | 226 | A>T | ExAC TOPMed gnomAD | |||
rs782517421 | 229 | T>P | ExAC gnomAD | |||
rs782647932 | 229 | T>S | ExAC | |||
rs369750549 | 230 | C>R | ESP ExAC TOPMed gnomAD | |||
rs1252320547 | 233 | L>F | TOPMed gnomAD | |||
rs1252320547 | 233 | L>V | TOPMed gnomAD | |||
rs1555153085 | 234 | T>N | gnomAD | |||
rs187673472 | 235 | T>I | 1000Genomes ExAC TOPMed gnomAD | |||
rs374223610 | 236 | A>P | ESP ExAC TOPMed gnomAD | |||
rs1946390857 | 237 | F>S | Ensembl | |||
rs1336172483 | 238 | E>K | TOPMed | |||
COSV54643692 | 239 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1231926897 | 240 | V>I | TOPMed gnomAD | |||
rs1555153095 | 241 | W>* | gnomAD | |||
rs1946391162 | 241 | W>S | Ensembl | |||
rs1946391470 | 242 | G>A | TOPMed gnomAD | |||
rs1946391470 | 242 | G>E | TOPMed gnomAD | |||
TCGA novel | 242 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs782051183 | 243 | V>L | ExAC gnomAD | |||
rs377663713 | 244 | I>V | ESP ExAC TOPMed gnomAD | |||
rs1946391716 | 245 | *>D | TOPMed | |||