OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.59654158A>C | CA377064163 | SLC16A9 | c.868T>G (p.Tyr290Asp) c.607T>G (p.Tyr203Asp) | |
| 10 | g.59654158A>G | CA377064164 | SLC16A9 | c.868T>C (p.Tyr290His) c.607T>C (p.Tyr203His) | gnomAD v4 |
| 10 | g.59654158A>T | CA377064165 | SLC16A9 | c.868T>A (p.Tyr290Asn) c.607T>A (p.Tyr203Asn) | |
| 10 | g.59654159T>A | CA208153598 | SLC16A9 | c.867A>T (p.Leu289Phe) c.606A>T (p.Leu202Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654159T>C | CA470001035 | SLC16A9 | c.867A>G (p.Leu289=) c.606A>G (p.Leu202=) | gnomAD v4 |
| 10 | g.59654159T>G | CA377064166 | SLC16A9 | c.867A>C (p.Leu289Phe) c.606A>C (p.Leu202Phe) | |
| 10 | g.59654159T= | CA1913560945 | SLC16A9 | c.867A= (p.Leu289=) c.606A= (p.Leu202=) | |
| 10 | g.59654160A= | CA1913560949 | SLC16A9 | c.866T= (p.Leu289=) c.605T= (p.Leu202=) | |
| 10 | g.59654160A>C | CA377064167 | SLC16A9 | c.866T>G (p.Leu289Ter) c.605T>G (p.Leu202Ter) | |
| 10 | g.59654160A>G | CA377064168 | SLC16A9 | c.866T>C (p.Leu289Ser) c.605T>C (p.Leu202Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654160A>T | CA377064169 | SLC16A9 | c.866T>A (p.Leu289Ter) c.605T>A (p.Leu202Ter) | |
| 10 | g.59654161A= | CA1913560953 | SLC16A9 | c.865T= (p.Leu289=) c.604T= (p.Leu202=) | |
| 10 | g.59654161A>C | CA208153599 | SLC16A9 | c.865T>G (p.Leu289Val) c.604T>G (p.Leu202Val) | dbSNP |
| 10 | g.59654161A>G | CA470001036 | SLC16A9 | c.865T>C (p.Leu289=) c.604T>C (p.Leu202=) | gnomAD v4 |
| 10 | g.59654161A>T | CA377064170 | SLC16A9 | c.865T>A (p.Leu289Ile) c.604T>A (p.Leu202Ile) | |
| 10 | g.59654162C>A | CA377064171 | SLC16A9 | c.864G>T (p.Gln288His) c.603G>T (p.Gln201His) | |
| 10 | g.59654162C>G | CA377064172 | SLC16A9 | c.864G>C (p.Gln288His) c.603G>C (p.Gln201His) | |
| 10 | g.59654162C>T | CA470001037 | SLC16A9 | c.864G>A (p.Gln288=) c.603G>A (p.Gln201=) | |
| 10 | g.59654163T>A | CA377064173 | SLC16A9 | c.863A>T (p.Gln288Leu) c.602A>T (p.Gln201Leu) | |
| 10 | g.59654163T>C | CA377064174 | SLC16A9 | c.863A>G (p.Gln288Arg) c.602A>G (p.Gln201Arg) | gnomAD v4 |
| 10 | g.59654163T>G | CA377064175 | SLC16A9 | c.863A>C (p.Gln288Pro) c.602A>C (p.Gln201Pro) | gnomAD v4 |
| 10 | g.59654164G>A | CA377064176 | SLC16A9 | c.862C>T (p.Gln288Ter) c.601C>T (p.Gln201Ter) | dbSNP |
| 10 | g.59654164G>C | CA377064177 | SLC16A9 | c.862C>G (p.Gln288Glu) c.601C>G (p.Gln201Glu) | |
| 10 | g.59654164G= | CA1913560956 | SLC16A9 | c.862C= (p.Gln288=) c.601C= (p.Gln201=) | |
| 10 | g.59654164G>T | CA377064178 | SLC16A9 | c.862C>A (p.Gln288Lys) c.601C>A (p.Gln201Lys) | |
| 10 | g.59654165C>A | CA377064179 | SLC16A9 | c.861G>T (p.Trp287Cys) c.600G>T (p.Trp200Cys) | |
| 10 | g.59654165C= | CA1913560957 | SLC16A9 | c.861G= (p.Trp287=) c.600G= (p.Trp200=) | |
| 10 | g.59654165C>G | CA377064180 | SLC16A9 | c.861G>C (p.Trp287Cys) c.600G>C (p.Trp200Cys) | |
| 10 | g.59654165C>T | CA377064181 | SLC16A9 | c.861G>A (p.Trp287Ter) c.600G>A (p.Trp200Ter) | dbSNP |
| 10 | g.59654166C>A | CA377064182 | SLC16A9 | c.860G>T (p.Trp287Leu) c.599G>T (p.Trp200Leu) | |
| 10 | g.59654166C>G | CA377064183 | SLC16A9 | c.860G>C (p.Trp287Ser) c.599G>C (p.Trp200Ser) | |
| 10 | g.59654166C>T | CA377064184 | SLC16A9 | c.860G>A (p.Trp287Ter) c.599G>A (p.Trp200Ter) | |
| 10 | g.59654167A>C | CA377064187 | SLC16A9 | c.859T>G (p.Trp287Gly) c.598T>G (p.Trp200Gly) | |
| 10 | g.59654167A>G | CA377064186 | SLC16A9 | c.859T>C (p.Trp287Arg) c.598T>C (p.Trp200Arg) | |
| 10 | g.59654167A>T | CA377064185 | SLC16A9 | c.859T>A (p.Trp287Arg) c.598T>A (p.Trp200Arg) | |
| 10 | g.59654168C>A | CA377064188 | SLC16A9 | c.858G>T (p.Lys286Asn) c.597G>T (p.Lys199Asn) | |
| 10 | g.59654168C= | CA1913560959 | SLC16A9 | c.858G= (p.Lys286=) c.597G= (p.Lys199=) | |
| 10 | g.59654168C>G | CA377064189 | SLC16A9 | c.858G>C (p.Lys286Asn) c.597G>C (p.Lys199Asn) | |
| 10 | g.59654168C>T | CA5509932 | SLC16A9 | c.858G>A (p.Lys286=) c.597G>A (p.Lys199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654169T>A | CA377064190 | SLC16A9 | c.857A>T (p.Lys286Met) c.596A>T (p.Lys199Met) | |
| 10 | g.59654169T>C | CA377064191 | SLC16A9 | c.857A>G (p.Lys286Arg) c.596A>G (p.Lys199Arg) | |
| 10 | g.59654169T>G | CA377064192 | SLC16A9 | c.857A>C (p.Lys286Thr) c.596A>C (p.Lys199Thr) | |
| 10 | g.59654170T>A | CA377064193 | SLC16A9 | c.856A>T (p.Lys286Ter) c.595A>T (p.Lys199Ter) | |
| 10 | g.59654170T>C | CA377064194 | SLC16A9 | c.856A>G (p.Lys286Glu) c.595A>G (p.Lys199Glu) | |
| 10 | g.59654170T>G | CA377064195 | SLC16A9 | c.856A>C (p.Lys286Gln) c.595A>C (p.Lys199Gln) | |
| 10 | g.59654171C>A | CA377064196 | SLC16A9 | c.855G>T (p.Arg285Ser) c.594G>T (p.Arg198Ser) | |
| 10 | g.59654171C= | CA1913560961 | SLC16A9 | c.855G= (p.Arg285=) c.594G= (p.Arg198=) | |
| 10 | g.59654171C>G | CA377064197 | SLC16A9 | c.855G>C (p.Arg285Ser) c.594G>C (p.Arg198Ser) | |
| 10 | g.59654171C>T | CA5509933 | SLC16A9 | c.855G>A (p.Arg285=) c.594G>A (p.Arg198=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654172del | CA2609266083 | SLC16A9 | c.855del (p.Lys286SerfsTer?) c.594del (p.Lys199SerfsTer?) | gnomAD v4 |
| 10 | g.59654172C>A | CA377064200 | SLC16A9 | c.854G>T (p.Arg285Met) c.593G>T (p.Arg198Met) | |
| 10 | g.59654172C>G | CA377064199 | SLC16A9 | c.854G>C (p.Arg285Thr) c.593G>C (p.Arg198Thr) | |
| 10 | g.59654172C>T | CA377064198 | SLC16A9 | c.854G>A (p.Arg285Lys) c.593G>A (p.Arg198Lys) | COSMIC |
| 10 | g.59654173T>A | CA377064201 | SLC16A9 | c.853A>T (p.Arg285Trp) c.592A>T (p.Arg198Trp) | |
| 10 | g.59654173T>C | CA377064202 | SLC16A9 | c.853A>G (p.Arg285Gly) c.592A>G (p.Arg198Gly) | |
| 10 | g.59654173T>G | CA470000875 | SLC16A9 | c.853A>C (p.Arg285=) c.592A>C (p.Arg198=) | |
| 10 | g.59654173T= | CA1913560966 | SLC16A9 | c.853A= (p.Arg285=) c.592A= (p.Arg198=) | |
| 10 | g.59654174C>A | CA377064203 | SLC16A9 | c.852G>T (p.Lys284Asn) c.591G>T (p.Lys197Asn) | |
| 10 | g.59654174C= | CA1913560971 | SLC16A9 | c.852G= (p.Lys284=) c.591G= (p.Lys197=) | |
| 10 | g.59654174C>G | CA377064204 | SLC16A9 | c.852G>C (p.Lys284Asn) c.591G>C (p.Lys197Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654174C>T | CA470000876 | SLC16A9 | c.852G>A (p.Lys284=) c.591G>A (p.Lys197=) | dbSNP gnomAD v4 COSMIC |
| 10 | g.59654174_59654177dup | CA5509934 | SLC16A9 | c.849_852dup (p.Arg285GlnfsTer8) c.588_591dup (p.Arg198GlnfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654175T>A | CA377064207 | SLC16A9 | c.851A>T (p.Lys284Met) c.590A>T (p.Lys197Met) | |
| 10 | g.59654175T>C | CA377064206 | SLC16A9 | c.851A>G (p.Lys284Arg) c.590A>G (p.Lys197Arg) | |
| 10 | g.59654175T>G | CA377064205 | SLC16A9 | c.851A>C (p.Lys284Thr) c.590A>C (p.Lys197Thr) | |
| 10 | g.59654176T>A | CA377064208 | SLC16A9 | c.850A>T (p.Lys284Ter) c.589A>T (p.Lys197Ter) | |
| 10 | g.59654176T>C | CA208153600 | SLC16A9 | c.850A>G (p.Lys284Glu) c.589A>G (p.Lys197Glu) | dbSNP gnomAD v4 |
| 10 | g.59654176T>G | CA377064209 | SLC16A9 | c.850A>C (p.Lys284Gln) c.589A>C (p.Lys197Gln) | |
| 10 | g.59654176T= | CA1913560979 | SLC16A9 | c.850A= (p.Lys284=) c.589A= (p.Lys197=) | |
| 10 | g.59654177G>A | CA470000877 | SLC16A9 | c.849C>T (p.Ala283=) c.588C>T (p.Ala196=) | |
| 10 | g.59654177G>C | CA470000878 | SLC16A9 | c.849C>G (p.Ala283=) c.588C>G (p.Ala196=) | |
| 10 | g.59654177G>T | CA470000880 | SLC16A9 | c.849C>A (p.Ala283=) c.588C>A (p.Ala196=) | |
| 10 | g.59654178G>A | CA377064210 | SLC16A9 | c.848C>T (p.Ala283Val) c.587C>T (p.Ala196Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654178G>C | CA377064211 | SLC16A9 | c.848C>G (p.Ala283Gly) c.587C>G (p.Ala196Gly) | |
| 10 | g.59654178G= | CA1913560984 | SLC16A9 | c.848C= (p.Ala283=) c.587C= (p.Ala196=) | |
| 10 | g.59654178G>T | CA377064212 | SLC16A9 | c.848C>A (p.Ala283Asp) c.587C>A (p.Ala196Asp) | dbSNP gnomAD v2 |
| 10 | g.59654179C>A | CA377064213 | SLC16A9 | c.847G>T (p.Ala283Ser) c.586G>T (p.Ala196Ser) | dbSNP |
| 10 | g.59654179C>G | CA377064215 | SLC16A9 | c.847G>C (p.Ala283Pro) c.586G>C (p.Ala196Pro) | |
| 10 | g.59654179C>T | CA377064214 | SLC16A9 | c.847G>A (p.Ala283Thr) c.586G>A (p.Ala196Thr) | |
| 10 | g.59654180A>C | CA470000881 | SLC16A9 | c.846T>G (p.Leu282=) c.585T>G (p.Leu195=) | |
| 10 | g.59654180A>G | CA470000884 | SLC16A9 | c.846T>C (p.Leu282=) c.585T>C (p.Leu195=) | COSMIC |
| 10 | g.59654180A>T | CA470000883 | SLC16A9 | c.846T>A (p.Leu282=) c.585T>A (p.Leu195=) | |
| 10 | g.59654181A= | CA1913560988 | SLC16A9 | c.845T= (p.Leu282=) c.584T= (p.Leu195=) | |
| 10 | g.59654181A>C | CA377064216 | SLC16A9 | c.845T>G (p.Leu282Arg) c.584T>G (p.Leu195Arg) | |
| 10 | g.59654181A>G | CA377064217 | SLC16A9 | c.845T>C (p.Leu282Pro) c.584T>C (p.Leu195Pro) | dbSNP gnomAD v4 |
| 10 | g.59654181A>T | CA377064218 | SLC16A9 | c.845T>A (p.Leu282His) c.584T>A (p.Leu195His) | |
| 10 | g.59654182G>A | CA377064219 | SLC16A9 | c.844C>T (p.Leu282Phe) c.583C>T (p.Leu195Phe) | |
| 10 | g.59654182G>C | CA377064220 | SLC16A9 | c.844C>G (p.Leu282Val) c.583C>G (p.Leu195Val) | |
| 10 | g.59654182G>T | CA377064221 | SLC16A9 | c.844C>A (p.Leu282Ile) c.583C>A (p.Leu195Ile) | |
| 10 | g.59654183C>A | CA377064222 | SLC16A9 | c.843G>T (p.Gln281His) c.582G>T (p.Gln194His) | |
| 10 | g.59654183C>G | CA377064223 | SLC16A9 | c.843G>C (p.Gln281His) c.582G>C (p.Gln194His) | |
| 10 | g.59654183C>T | CA470000885 | SLC16A9 | c.843G>A (p.Gln281=) c.582G>A (p.Gln194=) | |
| 10 | g.59654184T>A | CA377064224 | SLC16A9 | c.842A>T (p.Gln281Leu) c.581A>T (p.Gln194Leu) | |
| 10 | g.59654184T>C | CA377064225 | SLC16A9 | c.842A>G (p.Gln281Arg) c.581A>G (p.Gln194Arg) | |
| 10 | g.59654184T>G | CA377064226 | SLC16A9 | c.842A>C (p.Gln281Pro) c.581A>C (p.Gln194Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654184T= | CA1913560991 | SLC16A9 | c.842A= (p.Gln281=) c.581A= (p.Gln194=) | |
| 10 | g.59654185G>A | CA377064228 | SLC16A9 | c.841C>T (p.Gln281Ter) c.580C>T (p.Gln194Ter) | |
| 10 | g.59654185G>C | CA5509935 | SLC16A9 | c.841C>G (p.Gln281Glu) c.580C>G (p.Gln194Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654185G= | CA1913560996 | SLC16A9 | c.841C= (p.Gln281=) c.580C= (p.Gln194=) | |
| 10 | g.59654185G>T | CA377064227 | SLC16A9 | c.841C>A (p.Gln281Lys) c.580C>A (p.Gln194Lys) | |
| 10 | g.59654186T>A | CA377064230 | SLC16A9 | c.840A>T (p.Lys280Asn) c.579A>T (p.Lys193Asn) | |
| 10 | g.59654186T>C | CA470000886 | SLC16A9 | c.840A>G (p.Lys280=) c.579A>G (p.Lys193=) | |
| 10 | g.59654186T>G | CA377064229 | SLC16A9 | c.840A>C (p.Lys280Asn) c.579A>C (p.Lys193Asn) | |
| 10 | g.59654187T>A | CA377064232 | SLC16A9 | c.839A>T (p.Lys280Ile) c.578A>T (p.Lys193Ile) | |
| 10 | g.59654187T>C | CA377064231 | SLC16A9 | c.839A>G (p.Lys280Arg) c.578A>G (p.Lys193Arg) | |
| 10 | g.59654187T>G | CA377064233 | SLC16A9 | c.839A>C (p.Lys280Thr) c.578A>C (p.Lys193Thr) | |
| 10 | g.59654188T>A | CA377064234 | SLC16A9 | c.838A>T (p.Lys280Ter) c.577A>T (p.Lys193Ter) | |
| 10 | g.59654188T>C | CA377064236 | SLC16A9 | c.838A>G (p.Lys280Glu) c.577A>G (p.Lys193Glu) | |
| 10 | g.59654188T>G | CA377064235 | SLC16A9 | c.838A>C (p.Lys280Gln) c.577A>C (p.Lys193Gln) | |
| 10 | g.59654189G>A | CA208153601 | SLC16A9 | c.837C>T (p.Cys279=) c.576C>T (p.Cys192=) | dbSNP gnomAD v4 |
| 10 | g.59654189G>C | CA377064237 | SLC16A9 | c.837C>G (p.Cys279Trp) c.576C>G (p.Cys192Trp) | |
| 10 | g.59654189G= | CA1913561004 | SLC16A9 | c.837C= (p.Cys279=) c.576C= (p.Cys192=) | |
| 10 | g.59654189G>T | CA377064238 | SLC16A9 | c.837C>A (p.Cys279Ter) c.576C>A (p.Cys192Ter) | |
| 10 | g.59654190C>A | CA377064239 | SLC16A9 | c.836G>T (p.Cys279Phe) c.575G>T (p.Cys192Phe) | |
| 10 | g.59654190C= | CA1913561009 | SLC16A9 | c.836G= (p.Cys279=) c.575G= (p.Cys192=) | |
| 10 | g.59654190C>G | CA377064240 | SLC16A9 | c.836G>C (p.Cys279Ser) c.575G>C (p.Cys192Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654190C>T | CA377064241 | SLC16A9 | c.836G>A (p.Cys279Tyr) c.575G>A (p.Cys192Tyr) | gnomAD v4 |
| 10 | g.59654191A>C | CA377064242 | SLC16A9 | c.835T>G (p.Cys279Gly) c.574T>G (p.Cys192Gly) | |
| 10 | g.59654191A>G | CA377064243 | SLC16A9 | c.835T>C (p.Cys279Arg) c.574T>C (p.Cys192Arg) | |
| 10 | g.59654191A>T | CA377064244 | SLC16A9 | c.835T>A (p.Cys279Ser) c.574T>A (p.Cys192Ser) | |
| 10 | g.59654195dup | CA918686087 | SLC16A9 | c.835dup (p.Cys279LeufsTer13) c.574dup (p.Cys192LeufsTer13) | dbSNP gnomAD v4 |
| 10 | g.59654195del | CA2574558622 | SLC16A9 | c.835del (p.Cys279AlafsTer?) c.574del (p.Cys192AlafsTer?) | |
| 10 | g.59654192A>C | CA377064245 | SLC16A9 | c.834T>G (p.Phe278Leu) c.573T>G (p.Phe191Leu) | |
| 10 | g.59654192A>G | CA470000889 | SLC16A9 | c.834T>C (p.Phe278=) c.573T>C (p.Phe191=) | |
| 10 | g.59654192A>T | CA377064246 | SLC16A9 | c.834T>A (p.Phe278Leu) c.573T>A (p.Phe191Leu) | |
| 10 | g.59654193A>C | CA377064249 | SLC16A9 | c.833T>G (p.Phe278Cys) c.572T>G (p.Phe191Cys) | |
| 10 | g.59654193A>G | CA377064248 | SLC16A9 | c.833T>C (p.Phe278Ser) c.572T>C (p.Phe191Ser) | |
| 10 | g.59654193A>T | CA377064247 | SLC16A9 | c.833T>A (p.Phe278Tyr) c.572T>A (p.Phe191Tyr) | |
| 10 | g.59654194A>C | CA377064250 | SLC16A9 | c.832T>G (p.Phe278Val) c.571T>G (p.Phe191Val) | |
| 10 | g.59654194A>G | CA377064251 | SLC16A9 | c.832T>C (p.Phe278Leu) c.571T>C (p.Phe191Leu) | |
| 10 | g.59654194A>T | CA377064252 | SLC16A9 | c.832T>A (p.Phe278Ile) c.571T>A (p.Phe191Ile) | |
| 10 | g.59654194_59654196delinsAAT | CA1913561016 | SLC16A9 | c.830_832delinsATT (p.Tyr277=) c.569_571delinsATT (p.Tyr190=) | |
| 10 | g.59654195A= | CA1913561023 | SLC16A9 | c.831T= (p.Tyr277=) c.570T= (p.Tyr190=) | |
| 10 | g.59654195A>C | CA377064253 | SLC16A9 | c.831T>G (p.Tyr277Ter) c.570T>G (p.Tyr190Ter) | dbSNP |
| 10 | g.59654195A>G | CA470000890 | SLC16A9 | c.831T>C (p.Tyr277=) c.570T>C (p.Tyr190=) | dbSNP gnomAD v4 |
| 10 | g.59654195A>T | CA377064254 | SLC16A9 | c.831T>A (p.Tyr277Ter) c.570T>A (p.Tyr190Ter) | dbSNP |
| 10 | g.59654197_59654198del | CA594255689 | SLC16A9 | c.830_831del (p.Tyr277PhefsTer14) c.569_570del (p.Tyr190PhefsTer14) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.59654196T>A | CA377064255 | SLC16A9 | c.830A>T (p.Tyr277Phe) c.569A>T (p.Tyr190Phe) | |
| 10 | g.59654196T>C | CA5509936 | SLC16A9 | c.830A>G (p.Tyr277Cys) c.569A>G (p.Tyr190Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654196T>G | CA377064256 | SLC16A9 | c.830A>C (p.Tyr277Ser) c.569A>C (p.Tyr190Ser) | |
| 10 | g.59654196T= | CA1913561028 | SLC16A9 | c.830A= (p.Tyr277=) c.569A= (p.Tyr190=) | |
| 10 | g.59654197A>C | CA377064257 | SLC16A9 | c.829T>G (p.Tyr277Asp) c.568T>G (p.Tyr190Asp) | |
| 10 | g.59654197A>G | CA377064258 | SLC16A9 | c.829T>C (p.Tyr277His) c.568T>C (p.Tyr190His) | |
| 10 | g.59654197A>T | CA377064259 | SLC16A9 | c.829T>A (p.Tyr277Asn) c.568T>A (p.Tyr190Asn) | |
| 10 | g.59654198T>A | CA470000892 | SLC16A9 | c.828A>T (p.Thr276=) c.567A>T (p.Thr189=) | |
| 10 | g.59654198T>C | CA5509937 | SLC16A9 | c.828A>G (p.Thr276=) c.567A>G (p.Thr189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654198T>G | CA470000893 | SLC16A9 | c.828A>C (p.Thr276=) c.567A>C (p.Thr189=) | |
| 10 | g.59654198T= | CA1913561031 | SLC16A9 | c.828A= (p.Thr276=) c.567A= (p.Thr189=) | |
| 10 | g.59654199G>A | CA377064261 | SLC16A9 | c.827C>T (p.Thr276Ile) c.566C>T (p.Thr189Ile) | |
| 10 | g.59654199G>C | CA377064262 | SLC16A9 | c.827C>G (p.Thr276Arg) c.566C>G (p.Thr189Arg) | |
| 10 | g.59654199G= | CA1913561035 | SLC16A9 | c.827C= (p.Thr276=) c.566C= (p.Thr189=) | |
| 10 | g.59654199G>T | CA377064260 | SLC16A9 | c.827C>A (p.Thr276Lys) c.566C>A (p.Thr189Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654200T>A | CA377064263 | SLC16A9 | c.826A>T (p.Thr276Ser) c.565A>T (p.Thr189Ser) | |
| 10 | g.59654200T>C | CA5509938 | SLC16A9 | c.826A>G (p.Thr276Ala) c.565A>G (p.Thr189Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654200T>G | CA377064264 | SLC16A9 | c.826A>C (p.Thr276Pro) c.565A>C (p.Thr189Pro) | |
| 10 | g.59654200T= | CA1913561036 | SLC16A9 | c.826A= (p.Thr276=) c.565A= (p.Thr189=) | |
| 10 | g.59654201C>A | CA377064265 | SLC16A9 | c.825G>T (p.Gln275His) c.564G>T (p.Gln188His) | |
| 10 | g.59654201C= | CA1913561038 | SLC16A9 | c.825G= (p.Gln275=) c.564G= (p.Gln188=) | |
| 10 | g.59654201C>G | CA377064266 | SLC16A9 | c.825G>C (p.Gln275His) c.564G>C (p.Gln188His) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654201C>T | CA470000897 | SLC16A9 | c.825G>A (p.Gln275=) c.564G>A (p.Gln188=) | |
| 10 | g.59654202T>A | CA377064267 | SLC16A9 | c.824A>T (p.Gln275Leu) c.563A>T (p.Gln188Leu) | |
| 10 | g.59654202T>C | CA377064268 | SLC16A9 | c.824A>G (p.Gln275Arg) c.563A>G (p.Gln188Arg) | |
| 10 | g.59654202T>G | CA377064269 | SLC16A9 | c.824A>C (p.Gln275Pro) c.563A>C (p.Gln188Pro) | |
| 10 | g.59654203G>A | CA377064270 | SLC16A9 | c.823C>T (p.Gln275Ter) c.562C>T (p.Gln188Ter) | |
| 10 | g.59654203G>C | CA377064271 | SLC16A9 | c.823C>G (p.Gln275Glu) c.562C>G (p.Gln188Glu) | |
| 10 | g.59654203G>T | CA377064272 | SLC16A9 | c.823C>A (p.Gln275Lys) c.562C>A (p.Gln188Lys) | |
| 10 | g.59654204T>A | CA377064273 | SLC16A9 | c.822A>T (p.Glu274Asp) c.561A>T (p.Glu187Asp) | |
| 10 | g.59654204T>C | CA470000898 | SLC16A9 | c.822A>G (p.Glu274=) c.561A>G (p.Glu187=) | gnomAD v4 |
| 10 | g.59654204T>G | CA377064274 | SLC16A9 | c.822A>C (p.Glu274Asp) c.561A>C (p.Glu187Asp) | |
| 10 | g.59654205T>A | CA377064277 | SLC16A9 | c.821A>T (p.Glu274Val) c.560A>T (p.Glu187Val) | |
| 10 | g.59654205T>C | CA377064276 | SLC16A9 | c.821A>G (p.Glu274Gly) c.560A>G (p.Glu187Gly) | |
| 10 | g.59654205T>G | CA377064275 | SLC16A9 | c.821A>C (p.Glu274Ala) c.560A>C (p.Glu187Ala) | |
| 10 | g.59654206C>A | CA377064278 | SLC16A9 | c.820G>T (p.Glu274Ter) c.559G>T (p.Glu187Ter) | |
| 10 | g.59654206C= | CA1913561041 | SLC16A9 | c.820G= (p.Glu274=) c.559G= (p.Glu187=) | |
| 10 | g.59654206C>G | CA377064279 | SLC16A9 | c.820G>C (p.Glu274Gln) c.559G>C (p.Glu187Gln) | COSMIC |
| 10 | g.59654206C>T | CA377064280 | SLC16A9 | c.820G>A (p.Glu274Lys) c.559G>A (p.Glu187Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654207T>A | CA470000899 | SLC16A9 | c.819A>T (p.Ala273=) c.558A>T (p.Ala186=) | |
| 10 | g.59654207T>C | CA470000900 | SLC16A9 | c.819A>G (p.Ala273=) c.558A>G (p.Ala186=) | dbSNP |
| 10 | g.59654207T>G | CA470000901 | SLC16A9 | c.819A>C (p.Ala273=) c.558A>C (p.Ala186=) | |
| 10 | g.59654207T= | CA1913561044 | SLC16A9 | c.819A= (p.Ala273=) c.558A= (p.Ala186=) | |
| 10 | g.59654208G>A | CA377064281 | SLC16A9 | c.818C>T (p.Ala273Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v4 |
| 10 | g.59654208G>C | CA377064282 | SLC16A9 | c.818C>G (p.Ala273Gly) c.557C>G (p.Ala186Gly) | |
| 10 | g.59654208G= | CA1913561078 | SLC16A9 | c.818C= (p.Ala273=) c.557C= (p.Ala186=) | |
| 10 | g.59654208G>T | CA377064283 | SLC16A9 | c.818C>A (p.Ala273Glu) c.557C>A (p.Ala186Glu) | gnomAD v4 |
| 10 | g.59654209C>A | CA377064284 | SLC16A9 | c.817G>T (p.Ala273Ser) c.556G>T (p.Ala186Ser) | |
| 10 | g.59654209C>G | CA377064285 | SLC16A9 | c.817G>C (p.Ala273Pro) c.556G>C (p.Ala186Pro) | |
| 10 | g.59654209C>T | CA377064286 | SLC16A9 | c.817G>A (p.Ala273Thr) c.556G>A (p.Ala186Thr) | |
| 10 | g.59654210A>C | CA470000902 | SLC16A9 | c.816T>G (p.Val272=) c.555T>G (p.Val185=) | |
| 10 | g.59654210A>G | CA470000903 | SLC16A9 | c.816T>C (p.Val272=) c.555T>C (p.Val185=) | gnomAD v4 |
| 10 | g.59654210A>T | CA470000905 | SLC16A9 | c.816T>A (p.Val272=) c.555T>A (p.Val185=) | |
| 10 | g.59654211A>C | CA377064287 | SLC16A9 | c.815T>G (p.Val272Gly) c.554T>G (p.Val185Gly) | |
| 10 | g.59654211A>G | CA377064288 | SLC16A9 | c.815T>C (p.Val272Ala) c.554T>C (p.Val185Ala) | |
| 10 | g.59654211A>T | CA377064289 | SLC16A9 | c.815T>A (p.Val272Asp) c.554T>A (p.Val185Asp) | |
| 10 | g.59654212C>A | CA377064292 | SLC16A9 | c.814G>T (p.Val272Phe) c.553G>T (p.Val185Phe) | |
| 10 | g.59654212C>G | CA377064291 | SLC16A9 | c.814G>C (p.Val272Leu) c.553G>C (p.Val185Leu) | |
| 10 | g.59654212C>T | CA377064290 | SLC16A9 | c.814G>A (p.Val272Ile) c.553G>A (p.Val185Ile) | |
| 10 | g.59654213T>A | CA377064293 | SLC16A9 | c.813A>T (p.Lys271Asn) c.552A>T (p.Lys184Asn) | |
| 10 | g.59654213T>C | CA470000908 | SLC16A9 | c.813A>G (p.Lys271=) c.552A>G (p.Lys184=) | |
| 10 | g.59654213T>G | CA377064294 | SLC16A9 | c.813A>C (p.Lys271Asn) c.552A>C (p.Lys184Asn) | |
| 10 | g.59654214T>A | CA377064295 | SLC16A9 | c.812A>T (p.Lys271Ile) c.551A>T (p.Lys184Ile) | |
| 10 | g.59654214T>C | CA377064296 | SLC16A9 | c.812A>G (p.Lys271Arg) c.551A>G (p.Lys184Arg) | dbSNP |
| 10 | g.59654214T>G | CA377064297 | SLC16A9 | c.812A>C (p.Lys271Thr) c.551A>C (p.Lys184Thr) | |
| 10 | g.59654214T= | CA1913561089 | SLC16A9 | c.812A= (p.Lys271=) c.551A= (p.Lys184=) | |
| 10 | g.59654215T>A | CA377064298 | SLC16A9 | c.811A>T (p.Lys271Ter) c.550A>T (p.Lys184Ter) | |
| 10 | g.59654215T>C | CA377064299 | SLC16A9 | c.811A>G (p.Lys271Glu) c.550A>G (p.Lys184Glu) | gnomAD v4 |
| 10 | g.59654215T>G | CA377064300 | SLC16A9 | c.811A>C (p.Lys271Gln) c.550A>C (p.Lys184Gln) | |
| 10 | g.59654216C>A | CA377064301 | SLC16A9 | c.810G>T (p.Lys270Asn) c.549G>T (p.Lys183Asn) | |
| 10 | g.59654216C>G | CA377064302 | SLC16A9 | c.810G>C (p.Lys270Asn) c.549G>C (p.Lys183Asn) | |
| 10 | g.59654216C>T | CA470000910 | SLC16A9 | c.810G>A (p.Lys270=) c.549G>A (p.Lys183=) | |
| 10 | g.59654217T>A | CA377064303 | SLC16A9 | c.809A>T (p.Lys270Met) c.548A>T (p.Lys183Met) | |
| 10 | g.59654217T>C | CA377064304 | SLC16A9 | c.809A>G (p.Lys270Arg) c.548A>G (p.Lys183Arg) | |
| 10 | g.59654217T>G | CA377064305 | SLC16A9 | c.809A>C (p.Lys270Thr) c.548A>C (p.Lys183Thr) | |
| 10 | g.59654218T>A | CA377064306 | SLC16A9 | c.808A>T (p.Lys270Ter) c.547A>T (p.Lys183Ter) | |
| 10 | g.59654218T>C | CA377064307 | SLC16A9 | c.808A>G (p.Lys270Glu) c.547A>G (p.Lys183Glu) | dbSNP |
| 10 | g.59654218T>G | CA377064308 | SLC16A9 | c.808A>C (p.Lys270Gln) c.547A>C (p.Lys183Gln) | |
| 10 | g.59654218T= | CA1913561092 | SLC16A9 | c.808A= (p.Lys270=) c.547A= (p.Lys183=) | |
| 10 | g.59654219T>A | CA377064309 | SLC16A9 | c.807A>T (p.Lys269Asn) c.546A>T (p.Lys182Asn) | |
| 10 | g.59654219T>C | CA470000911 | SLC16A9 | c.807A>G (p.Lys269=) c.546A>G (p.Lys182=) | |
| 10 | g.59654219T>G | CA377064310 | SLC16A9 | c.807A>C (p.Lys269Asn) c.546A>C (p.Lys182Asn) | |
| 10 | g.59654220T>A | CA377064311 | SLC16A9 | c.806A>T (p.Lys269Ile) c.545A>T (p.Lys182Ile) | |
| 10 | g.59654220T>C | CA377064312 | SLC16A9 | c.806A>G (p.Lys269Arg) c.545A>G (p.Lys182Arg) | |
| 10 | g.59654220T>G | CA377064313 | SLC16A9 | c.806A>C (p.Lys269Thr) c.545A>C (p.Lys182Thr) | |
| 10 | g.59654221T>A | CA377064314 | SLC16A9 | c.805A>T (p.Lys269Ter) c.544A>T (p.Lys182Ter) | |
| 10 | g.59654221T>C | CA377064315 | SLC16A9 | c.805A>G (p.Lys269Glu) c.544A>G (p.Lys182Glu) | |
| 10 | g.59654221T>G | CA377064316 | SLC16A9 | c.805A>C (p.Lys269Gln) c.544A>C (p.Lys182Gln) | |
| 10 | g.59654222G>A | CA470000913 | SLC16A9 | c.804C>T (p.Tyr268=) c.543C>T (p.Tyr181=) | |
| 10 | g.59654222G>C | CA377064317 | SLC16A9 | c.804C>G (p.Tyr268Ter) c.543C>G (p.Tyr181Ter) | |
| 10 | g.59654222G>T | CA377064318 | SLC16A9 | c.804C>A (p.Tyr268Ter) c.543C>A (p.Tyr181Ter) | |
| 10 | g.59654223T>A | CA377064319 | SLC16A9 | c.803A>T (p.Tyr268Phe) c.542A>T (p.Tyr181Phe) | |
| 10 | g.59654223T>C | CA377064320 | SLC16A9 | c.803A>G (p.Tyr268Cys) c.542A>G (p.Tyr181Cys) | dbSNP |
| 10 | g.59654223T>G | CA377064321 | SLC16A9 | c.803A>C (p.Tyr268Ser) c.542A>C (p.Tyr181Ser) | |
| 10 | g.59654223T= | CA1913561097 | SLC16A9 | c.803A= (p.Tyr268=) c.542A= (p.Tyr181=) | |
| 10 | g.59654224A>C | CA377064324 | SLC16A9 | c.802T>G (p.Tyr268Asp) c.541T>G (p.Tyr181Asp) | |
| 10 | g.59654224A>G | CA377064323 | SLC16A9 | c.802T>C (p.Tyr268His) c.541T>C (p.Tyr181His) | |
| 10 | g.59654224A>T | CA377064322 | SLC16A9 | c.802T>A (p.Tyr268Asn) c.541T>A (p.Tyr181Asn) | |
| 10 | g.59654225C>A | CA470000915 | SLC16A9 | c.801G>T (p.Thr267=) c.540G>T (p.Thr180=) | |
| 10 | g.59654225C= | CA1913561104 | SLC16A9 | c.801G= (p.Thr267=) c.540G= (p.Thr180=) | |
| 10 | g.59654225C>G | CA470000916 | SLC16A9 | c.801G>C (p.Thr267=) c.540G>C (p.Thr180=) | |
| 10 | g.59654225C>T | CA5509939 | SLC16A9 | c.801G>A (p.Thr267=) c.540G>A (p.Thr180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654226G>A | CA5509940 | SLC16A9 | c.800C>T (p.Thr267Met) c.539C>T (p.Thr180Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654226G>C | CA377064325 | SLC16A9 | c.800C>G (p.Thr267Arg) c.539C>G (p.Thr180Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654226G= | CA1913561115 | SLC16A9 | c.800C= (p.Thr267=) c.539C= (p.Thr180=) | |
| 10 | g.59654226G>T | CA377064326 | SLC16A9 | c.800C>A (p.Thr267Lys) c.539C>A (p.Thr180Lys) | gnomAD v4 |
| 10 | g.59654227T>A | CA377064327 | SLC16A9 | c.799A>T (p.Thr267Ser) c.538A>T (p.Thr180Ser) | |
| 10 | g.59654227T>C | CA377064328 | SLC16A9 | c.799A>G (p.Thr267Ala) c.538A>G (p.Thr180Ala) | |
| 10 | g.59654227T>G | CA377064329 | SLC16A9 | c.799A>C (p.Thr267Pro) c.538A>C (p.Thr180Pro) | |
| 10 | g.59654228T>A | CA377064330 | SLC16A9 | c.798A>T (p.Glu266Asp) c.537A>T (p.Glu179Asp) | |
| 10 | g.59654228T>C | CA5509941 | SLC16A9 | c.798A>G (p.Glu266=) c.537A>G (p.Glu179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654228T>G | CA377064331 | SLC16A9 | c.798A>C (p.Glu266Asp) c.537A>C (p.Glu179Asp) | |
| 10 | g.59654228T= | CA1913561122 | SLC16A9 | c.798A= (p.Glu266=) c.537A= (p.Glu179=) | |
| 10 | g.59654229T>A | CA377064332 | SLC16A9 | c.797A>T (p.Glu266Val) c.536A>T (p.Glu179Val) | |
| 10 | g.59654229T>C | CA377064333 | SLC16A9 | c.797A>G (p.Glu266Gly) c.536A>G (p.Glu179Gly) | |
| 10 | g.59654229T>G | CA377064334 | SLC16A9 | c.797A>C (p.Glu266Ala) c.536A>C (p.Glu179Ala) | |
| 10 | g.59654230C>A | CA377064336 | SLC16A9 | c.796G>T (p.Glu266Ter) c.535G>T (p.Glu179Ter) | |
| 10 | g.59654230C= | CA1913561127 | SLC16A9 | c.796G= (p.Glu266=) c.535G= (p.Glu179=) | |
| 10 | g.59654230C>G | CA377064335 | SLC16A9 | c.796G>C (p.Glu266Gln) c.535G>C (p.Glu179Gln) | |
| 10 | g.59654230C>T | CA5509942 | SLC16A9 | c.796G>A (p.Glu266Lys) c.535G>A (p.Glu179Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654231A>C | CA470000923 | SLC16A9 | c.795T>G (p.Pro265=) c.534T>G (p.Pro178=) | |
| 10 | g.59654231A>G | CA470000924 | SLC16A9 | c.795T>C (p.Pro265=) c.534T>C (p.Pro178=) | gnomAD v4 |
| 10 | g.59654231A>T | CA470000925 | SLC16A9 | c.795T>A (p.Pro265=) c.534T>A (p.Pro178=) | |
| 10 | g.59654232G>A | CA377064337 | SLC16A9 | c.794C>T (p.Pro265Leu) c.533C>T (p.Pro178Leu) | |
| 10 | g.59654232G>C | CA377064338 | SLC16A9 | c.794C>G (p.Pro265Arg) c.533C>G (p.Pro178Arg) | |
| 10 | g.59654232G>T | CA377064339 | SLC16A9 | c.794C>A (p.Pro265His) c.533C>A (p.Pro178His) | |
| 10 | g.59654233G>A | CA377064340 | SLC16A9 | c.793C>T (p.Pro265Ser) c.532C>T (p.Pro178Ser) | |
| 10 | g.59654233G>C | CA377064341 | SLC16A9 | c.793C>G (p.Pro265Ala) c.532C>G (p.Pro178Ala) | |
| 10 | g.59654233G>T | CA377064342 | SLC16A9 | c.793C>A (p.Pro265Thr) c.532C>A (p.Pro178Thr) | |
| 10 | g.59654234C>A | CA377064343 | SLC16A9 | c.792G>T (p.Glu264Asp) c.531G>T (p.Glu177Asp) | |
| 10 | g.59654234C= | CA1913561133 | SLC16A9 | c.792G= (p.Glu264=) c.531G= (p.Glu177=) | |
| 10 | g.59654234C>G | CA377064344 | SLC16A9 | c.792G>C (p.Glu264Asp) c.531G>C (p.Glu177Asp) | |
| 10 | g.59654234C>T | CA470000926 | SLC16A9 | c.792G>A (p.Glu264=) c.531G>A (p.Glu177=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654235T>A | CA377064345 | SLC16A9 | c.791A>T (p.Glu264Val) c.530A>T (p.Glu177Val) | |
| 10 | g.59654235T>C | CA377064346 | SLC16A9 | c.791A>G (p.Glu264Gly) c.530A>G (p.Glu177Gly) | gnomAD v4 |
| 10 | g.59654235T>G | CA377064347 | SLC16A9 | c.791A>C (p.Glu264Ala) c.530A>C (p.Glu177Ala) | |
| 10 | g.59654236C>A | CA377064349 | SLC16A9 | c.790G>T (p.Glu264Ter) c.529G>T (p.Glu177Ter) | |
| 10 | g.59654236C= | CA1913561144 | SLC16A9 | c.790G= (p.Glu264=) c.529G= (p.Glu177=) | |
| 10 | g.59654236C>G | CA377064348 | SLC16A9 | c.790G>C (p.Glu264Gln) c.529G>C (p.Glu177Gln) | gnomAD v4 |
| 10 | g.59654236C>T | CA5509943 | SLC16A9 | c.790G>A (p.Glu264Lys) c.529G>A (p.Glu177Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654237T>A | CA377064350 | SLC16A9 | c.789A>T (p.Lys263Asn) c.528A>T (p.Lys176Asn) | |
| 10 | g.59654237T>C | CA5509944 | SLC16A9 | c.789A>G (p.Lys263=) c.528A>G (p.Lys176=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654237T>G | CA377064351 | SLC16A9 | c.789A>C (p.Lys263Asn) c.528A>C (p.Lys176Asn) | |
| 10 | g.59654237T= | CA1913561150 | SLC16A9 | c.789A= (p.Lys263=) c.528A= (p.Lys176=) | |
| 10 | g.59654238T>A | CA377064352 | SLC16A9 | c.788A>T (p.Lys263Ile) c.527A>T (p.Lys176Ile) | |
| 10 | g.59654238T>C | CA377064354 | SLC16A9 | c.788A>G (p.Lys263Arg) c.527A>G (p.Lys176Arg) | gnomAD v4 |
| 10 | g.59654238T>G | CA377064353 | SLC16A9 | c.788A>C (p.Lys263Thr) c.527A>C (p.Lys176Thr) | |
| 10 | g.59654239T>A | CA377064355 | SLC16A9 | c.787A>T (p.Lys263Ter) c.526A>T (p.Lys176Ter) | |
| 10 | g.59654239T>C | CA377064356 | SLC16A9 | c.787A>G (p.Lys263Glu) c.526A>G (p.Lys176Glu) | gnomAD v4 |
| 10 | g.59654239T>G | CA377064357 | SLC16A9 | c.787A>C (p.Lys263Gln) c.526A>C (p.Lys176Gln) | |
| 10 | g.59654240T>A | CA470000929 | SLC16A9 | c.786A>T (p.Thr262=) c.525A>T (p.Thr175=) | |
| 10 | g.59654240T>C | CA470000930 | SLC16A9 | c.786A>G (p.Thr262=) c.525A>G (p.Thr175=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654240T>G | CA470000931 | SLC16A9 | c.786A>C (p.Thr262=) c.525A>C (p.Thr175=) | |
| 10 | g.59654240T= | CA1913561152 | SLC16A9 | c.786A= (p.Thr262=) c.525A= (p.Thr175=) | |
| 10 | g.59654247_59654248del | CA2609266084 | SLC16A9 | c.785_786del (p.Thr262LysfsTer4) c.524_525del (p.Thr175LysfsTer4) | gnomAD v4 |
| 10 | g.59654241G>A | CA377064358 | SLC16A9 | c.785C>T (p.Thr262Ile) c.524C>T (p.Thr175Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654241G>C | CA377064359 | SLC16A9 | c.785C>G (p.Thr262Arg) c.524C>G (p.Thr175Arg) | dbSNP gnomAD v4 |
| 10 | g.59654241G= | CA1913561156 | SLC16A9 | c.785C= (p.Thr262=) c.524C= (p.Thr175=) | |
| 10 | g.59654241G>T | CA377064360 | SLC16A9 | c.785C>A (p.Thr262Lys) c.524C>A (p.Thr175Lys) | |
| 10 | g.59654242T>A | CA377064361 | SLC16A9 | c.784A>T (p.Thr262Ser) c.523A>T (p.Thr175Ser) | |
| 10 | g.59654242T>C | CA377064362 | SLC16A9 | c.784A>G (p.Thr262Ala) c.523A>G (p.Thr175Ala) | |
| 10 | g.59654242T>G | CA377064363 | SLC16A9 | c.784A>C (p.Thr262Pro) c.523A>C (p.Thr175Pro) | |
| 10 | g.59654242_59654243insTT | CA2567458637 | SLC16A9 | c.784_785insAA (p.Thr262LysfsTer?) c.523_524insAA (p.Thr175LysfsTer?) | |
| 10 | g.59654243G>A | CA470000935 | SLC16A9 | c.783C>T (p.His261=) c.522C>T (p.His174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654243G>C | CA377064364 | SLC16A9 | c.783C>G (p.His261Gln) c.522C>G (p.His174Gln) | |
| 10 | g.59654243G= | CA1913561161 | SLC16A9 | c.783C= (p.His261=) c.522C= (p.His174=) | |
| 10 | g.59654243G>T | CA377064365 | SLC16A9 | c.783C>A (p.His261Gln) c.522C>A (p.His174Gln) | |
| 10 | g.59654244T>A | CA377064367 | SLC16A9 | c.782A>T (p.His261Leu) c.521A>T (p.His174Leu) | |
| 10 | g.59654244T>C | CA377064366 | SLC16A9 | c.782A>G (p.His261Arg) c.521A>G (p.His174Arg) | |
| 10 | g.59654244T>G | CA5509945 | SLC16A9 | c.782A>C (p.His261Pro) c.521A>C (p.His174Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654244T= | CA1913561170 | SLC16A9 | c.782A= (p.His261=) c.521A= (p.His174=) | |
| 10 | g.59654245G>A | CA377064368 | SLC16A9 | c.781C>T (p.His261Tyr) c.520C>T (p.His174Tyr) | dbSNP gnomAD v4 |
| 10 | g.59654245G>C | CA377064369 | SLC16A9 | c.781C>G (p.His261Asp) c.520C>G (p.His174Asp) | |
| 10 | g.59654245G>T | CA377064370 | SLC16A9 | c.781C>A (p.His261Asn) c.520C>A (p.His174Asn) | |
| 10 | g.59654245_59654246insCTGC | CA2564445636 | SLC16A9 | c.780_781insGCAG (p.His261AlafsTer7) c.519_520insGCAG (p.His174AlafsTer7) | |
| 10 | g.59654246T>A | CA470000943 | SLC16A9 | c.780A>T (p.Thr260=) c.519A>T (p.Thr173=) | |
| 10 | g.59654246T>C | CA470000942 | SLC16A9 | c.780A>G (p.Thr260=) c.519A>G (p.Thr173=) | gnomAD v4 |
| 10 | g.59654246T>G | CA470000940 | SLC16A9 | c.780A>C (p.Thr260=) c.519A>C (p.Thr173=) | |
| 10 | g.59654249_59654254del | CA2574558623 | SLC16A9 | c.775_780del (p.Val259_Thr260del) c.514_519del (p.Val172_Thr173del) | |
| 10 | g.59654247G>A | CA5509946 | SLC16A9 | c.779C>T (p.Thr260Ile) c.518C>T (p.Thr173Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654247G>C | CA377064371 | SLC16A9 | c.779C>G (p.Thr260Arg) c.518C>G (p.Thr173Arg) | |
| 10 | g.59654247G= | CA1913561178 | SLC16A9 | c.779C= (p.Thr260=) c.518C= (p.Thr173=) | |
| 10 | g.59654247G>T | CA377064372 | SLC16A9 | c.779C>A (p.Thr260Lys) c.518C>A (p.Thr173Lys) | |
| 10 | g.59654248T>A | CA377064373 | SLC16A9 | c.778A>T (p.Thr260Ser) c.517A>T (p.Thr173Ser) | gnomAD v4 |
| 10 | g.59654248T>C | CA377064374 | SLC16A9 | c.778A>G (p.Thr260Ala) c.517A>G (p.Thr173Ala) | |
| 10 | g.59654248T>G | CA377064375 | SLC16A9 | c.778A>C (p.Thr260Pro) c.517A>C (p.Thr173Pro) | |
| 10 | g.59654249C>A | CA5509947 | SLC16A9 | c.777G>T (p.Val259=) c.516G>T (p.Val172=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654249C= | CA1913561184 | SLC16A9 | c.777G= (p.Val259=) c.516G= (p.Val172=) | |
| 10 | g.59654249C>G | CA470000949 | SLC16A9 | c.777G>C (p.Val259=) c.516G>C (p.Val172=) | |
| 10 | g.59654249C>T | CA470000947 | SLC16A9 | c.777G>A (p.Val259=) c.516G>A (p.Val172=) | |
| 10 | g.59654249_59654251del | CA2560013024 | SLC16A9 | c.775_777del (p.Val259del) c.514_516del (p.Val172del) | |
| 10 | g.59654250A= | CA1913561189 | SLC16A9 | c.776T= (p.Val259=) c.515T= (p.Val172=) | |
| 10 | g.59654250A>C | CA377064377 | SLC16A9 | c.776T>G (p.Val259Gly) c.515T>G (p.Val172Gly) | |
| 10 | g.59654250A>G | CA5509948 | SLC16A9 | c.776T>C (p.Val259Ala) c.515T>C (p.Val172Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654250A>T | CA377064376 | SLC16A9 | c.776T>A (p.Val259Glu) c.515T>A (p.Val172Glu) | |
| 10 | g.59654251C>A | CA377064378 | SLC16A9 | c.775G>T (p.Val259Leu) c.514G>T (p.Val172Leu) | |
| 10 | g.59654251C>G | CA377064379 | SLC16A9 | c.775G>C (p.Val259Leu) c.514G>C (p.Val172Leu) | |
| 10 | g.59654251C>T | CA377064380 | SLC16A9 | c.775G>A (p.Val259Met) c.514G>A (p.Val172Met) | |
| 10 | g.59654252T>A | CA470000952 | SLC16A9 | c.774A>T (p.Thr258=) c.513A>T (p.Thr171=) | |
| 10 | g.59654252T>C | CA470000953 | SLC16A9 | c.774A>G (p.Thr258=) c.513A>G (p.Thr171=) | gnomAD v4 |
| 10 | g.59654252T>G | CA470000954 | SLC16A9 | c.774A>C (p.Thr258=) c.513A>C (p.Thr171=) | |
| 10 | g.59654253G>A | CA377064381 | SLC16A9 | c.773C>T (p.Thr258Ile) c.512C>T (p.Thr171Ile) | |
| 10 | g.59654253G>C | CA377064382 | SLC16A9 | c.773C>G (p.Thr258Arg) c.512C>G (p.Thr171Arg) | |
| 10 | g.59654253G= | CA1913561201 | SLC16A9 | c.773C= (p.Thr258=) c.512C= (p.Thr171=) | |
| 10 | g.59654253G>T | CA5509949 | SLC16A9 | c.773C>A (p.Thr258Lys) c.512C>A (p.Thr171Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654254T>A | CA377064383 | SLC16A9 | c.772A>T (p.Thr258Ser) c.511A>T (p.Thr171Ser) | dbSNP |
| 10 | g.59654254T>C | CA377064384 | SLC16A9 | c.772A>G (p.Thr258Ala) c.511A>G (p.Thr171Ala) | |
| 10 | g.59654254T>G | CA377064385 | SLC16A9 | c.772A>C (p.Thr258Pro) c.511A>C (p.Thr171Pro) | |
| 10 | g.59654255G>A | CA470000960 | SLC16A9 | c.771C>T (p.Pro257=) c.510C>T (p.Pro170=) | |
| 10 | g.59654255G>C | CA470000962 | SLC16A9 | c.771C>G (p.Pro257=) c.510C>G (p.Pro170=) | |
| 10 | g.59654255G>T | CA470000963 | SLC16A9 | c.771C>A (p.Pro257=) c.510C>A (p.Pro170=) | |
| 10 | g.59654256G>A | CA377064386 | SLC16A9 | c.770C>T (p.Pro257Leu) c.509C>T (p.Pro170Leu) | gnomAD v4 |
| 10 | g.59654256G>C | CA377064387 | SLC16A9 | c.770C>G (p.Pro257Arg) c.509C>G (p.Pro170Arg) | gnomAD v4 |
| 10 | g.59654256G>T | CA377064388 | SLC16A9 | c.770C>A (p.Pro257His) c.509C>A (p.Pro170His) | |
| 10 | g.59654257G>A | CA377064390 | SLC16A9 | c.769C>T (p.Pro257Ser) c.508C>T (p.Pro170Ser) | |
| 10 | g.59654257G>C | CA377064391 | SLC16A9 | c.769C>G (p.Pro257Ala) c.508C>G (p.Pro170Ala) | |
| 10 | g.59654257G>T | CA377064389 | SLC16A9 | c.769C>A (p.Pro257Thr) c.508C>A (p.Pro170Thr) | |
| 10 | g.59654258G>A | CA470000964 | SLC16A9 | c.768C>T (p.Asn256=) c.507C>T (p.Asn169=) | |
| 10 | g.59654258G>C | CA377064392 | SLC16A9 | c.768C>G (p.Asn256Lys) c.507C>G (p.Asn169Lys) | |
| 10 | g.59654258G>T | CA377064393 | SLC16A9 | c.768C>A (p.Asn256Lys) c.507C>A (p.Asn169Lys) |