UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.12112938T>A | CA468220175 | DHTKD1 | c.2193T>A (p.Thr731=) c.696T>A | |
| 10 | g.12112938T>C | CA468220177 | DHTKD1 | c.2193T>C (p.Thr731=) c.696T>C | gnomAD v4 |
| 10 | g.12112938T>G | CA468220176 | DHTKD1 | c.2193T>G (p.Thr731=) c.696T>G | |
| 10 | g.12112940_12112941del | CA2608250724 | DHTKD1 | c.2195_2196del (p.Val732GlufsTer18) c.698_699del | gnomAD v4 |
| 10 | g.12112939G>A | CA376013422 | DHTKD1 | c.2194G>A (p.Val732Met) c.697G>A | ClinVar gnomAD v4 |
| 10 | g.12112939G>C | CA376013423 | DHTKD1 | c.2194G>C (p.Val732Leu) c.697G>C | gnomAD v4 |
| 10 | g.12112939G>T | CA376013424 | DHTKD1 | c.2194G>T (p.Val732Leu) c.697G>T | |
| 10 | g.12112940T>A | CA376013425 | DHTKD1 | c.2195T>A (p.Val732Glu) c.698T>A | |
| 10 | g.12112940T>C | CA376013426 | DHTKD1 | c.2195T>C (p.Val732Ala) c.698T>C | |
| 10 | g.12112940T>G | CA376013427 | DHTKD1 | c.2195T>G (p.Val732Gly) c.698T>G | gnomAD v4 |
| 10 | g.12112941G>A | CA468220178 | DHTKD1 | c.2196G>A (p.Val732=) c.699G>A | |
| 10 | g.12112941G>C | CA468220179 | DHTKD1 | c.2196G>C (p.Val732=) c.699G>C | |
| 10 | g.12112941G>T | CA468220180 | DHTKD1 | c.2196G>T (p.Val732=) c.699G>T | |
| 10 | g.12112942A>C | CA376013428 | DHTKD1 | c.2197A>C (p.Asn733His) c.700A>C | |
| 10 | g.12112942A>G | CA376013429 | DHTKD1 | c.2197A>G (p.Asn733Asp) c.700A>G | |
| 10 | g.12112942A>T | CA376013430 | DHTKD1 | c.2197A>T (p.Asn733Tyr) c.700A>T | |
| 10 | g.12112943A>C | CA376013433 | DHTKD1 | c.2198A>C (p.Asn733Thr) c.701A>C | |
| 10 | g.12112943A>G | CA376013431 | DHTKD1 | c.2198A>G (p.Asn733Ser) c.701A>G | |
| 10 | g.12112943A>T | CA376013432 | DHTKD1 | c.2198A>T (p.Asn733Ile) c.701A>T | COSMIC |
| 10 | g.12112944C>A | CA376013434 | DHTKD1 | c.2199C>A (p.Asn733Lys) c.702C>A | |
| 10 | g.12112944C>G | CA376013435 | DHTKD1 | c.2199C>G (p.Asn733Lys) c.702C>G | |
| 10 | g.12112944C>T | CA468220181 | DHTKD1 | c.2199C>T (p.Asn733=) c.702C>T | |
| 10 | g.12112945A= | CA1890970523 | DHTKD1 | c.2200A= (p.Met734=) c.703A= | |
| 10 | g.12112945A>C | CA376013436 | DHTKD1 | c.2200A>C (p.Met734Leu) c.703A>C | |
| 10 | g.12112945A>G | CA376013437 | DHTKD1 | c.2200A>G (p.Met734Val) c.703A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12112945A>T | CA376013438 | DHTKD1 | c.2200A>T (p.Met734Leu) c.703A>T | |
| 10 | g.12112946T>A | CA376013439 | DHTKD1 | c.2201T>A (p.Met734Lys) c.704T>A | |
| 10 | g.12112946T>C | CA376013440 | DHTKD1 | c.2201T>C (p.Met734Thr) c.704T>C | gnomAD v4 |
| 10 | g.12112946T>G | CA376013441 | DHTKD1 | c.2201T>G (p.Met734Arg) c.704T>G | |
| 10 | g.12112947G>A | CA376013442 | DHTKD1 | c.2202G>A (p.Met734Ile) c.705G>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12112947G>C | CA376013443 | DHTKD1 | c.2202G>C (p.Met734Ile) c.705G>C | gnomAD v4 |
| 10 | g.12112947G= | CA1890970524 | DHTKD1 | c.2202G= (p.Met734=) c.705G= | |
| 10 | g.12112947G>T | CA376013444 | DHTKD1 | c.2202G>T (p.Met734Ile) c.705G>T | |
| 10 | g.12112948T>A | CA376013447 | DHTKD1 | c.2203T>A (p.Phe735Ile) c.706T>A | |
| 10 | g.12112948T>C | CA376013446 | DHTKD1 | c.2203T>C (p.Phe735Leu) c.706T>C | |
| 10 | g.12112948T>G | CA376013445 | DHTKD1 | c.2203T>G (p.Phe735Val) c.706T>G | |
| 10 | g.12112950del | CA2608250727 | DHTKD1 | c.2205del (p.Phe735LeufsTer?) c.708del | gnomAD v4 |
| 10 | g.12112949T>A | CA376013448 | DHTKD1 | c.2204T>A (p.Phe735Tyr) c.707T>A | |
| 10 | g.12112949T>C | CA376013449 | DHTKD1 | c.2204T>C (p.Phe735Ser) c.707T>C | gnomAD v4 |
| 10 | g.12112949T>G | CA376013450 | DHTKD1 | c.2204T>G (p.Phe735Cys) c.707T>G | |
| 10 | g.12112950T>A | CA376013451 | DHTKD1 | c.2205T>A (p.Phe735Leu) c.708T>A | |
| 10 | g.12112950T>C | CA468220182 | DHTKD1 | c.2205T>C (p.Phe735=) c.708T>C | |
| 10 | g.12112950T>G | CA376013452 | DHTKD1 | c.2205T>G (p.Phe735Leu) c.708T>G | |
| 10 | g.12112952_12112953del | CA2786660581 | DHTKD1 | c.2207_2208del (p.Val736GlyfsTer14) c.710_711del | |
| 10 | g.12112951G>A | CA5408173 | DHTKD1 | c.2206G>A (p.Val736Met) c.709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12112951G>C | CA376013454 | DHTKD1 | c.2206G>C (p.Val736Leu) c.709G>C | gnomAD v4 |
| 10 | g.12112951G= | CA1890970525 | DHTKD1 | c.2206G= (p.Val736=) c.709G= | |
| 10 | g.12112951G>T | CA376013453 | DHTKD1 | c.2206G>T (p.Val736Leu) c.709G>T | COSMIC |
| 10 | g.12112952T>A | CA376013455 | DHTKD1 | c.2207T>A (p.Val736Glu) c.710T>A | |
| 10 | g.12112952T>C | CA376013456 | DHTKD1 | c.2207T>C (p.Val736Ala) c.710T>C | |
| 10 | g.12112952T>G | CA376013457 | DHTKD1 | c.2207T>G (p.Val736Gly) c.710T>G | |
| 10 | g.12112953G>A | CA468220183 | DHTKD1 | c.2208G>A (p.Val736=) c.711G>A | |
| 10 | g.12112953G>C | CA468220184 | DHTKD1 | c.2208G>C (p.Val736=) c.711G>C | |
| 10 | g.12112953G>T | CA468220185 | DHTKD1 | c.2208G>T (p.Val736=) c.711G>T | |
| 10 | g.12112954G>A | CA202559976 | DHTKD1 | c.2209G>A (p.Val737Ile) c.712G>A | dbSNP |
| 10 | g.12112954G>C | CA376013458 | DHTKD1 | c.2209G>C (p.Val737Leu) c.712G>C | dbSNP |
| 10 | g.12112954G= | CA1890970527 | DHTKD1 | c.2209G= (p.Val737=) c.712G= | |
| 10 | g.12112954G>T | CA376013459 | DHTKD1 | c.2209G>T (p.Val737Phe) c.712G>T | |
| 10 | g.12112955T>A | CA376013460 | DHTKD1 | c.2210T>A (p.Val737Asp) c.713T>A | |
| 10 | g.12112955T>C | CA376013462 | DHTKD1 | c.2210T>C (p.Val737Ala) c.713T>C | |
| 10 | g.12112955T>G | CA376013461 | DHTKD1 | c.2210T>G (p.Val737Gly) c.713T>G | |
| 10 | g.12112956T>A | CA468220186 | DHTKD1 | c.2211T>A (p.Val737=) c.714T>A | |
| 10 | g.12112956T>C | CA468220187 | DHTKD1 | c.2211T>C (p.Val737=) c.714T>C | |
| 10 | g.12112956T>G | CA468220188 | DHTKD1 | c.2211T>G (p.Val737=) c.714T>G | COSMIC |
| 10 | g.12112957C>A | CA376013463 | DHTKD1 | c.2212C>A (p.His738Asn) c.715C>A | |
| 10 | g.12112957C>G | CA376013464 | DHTKD1 | c.2212C>G (p.His738Asp) c.715C>G | |
| 10 | g.12112957C>T | CA376013465 | DHTKD1 | c.2212C>T (p.His738Tyr) c.715C>T | |
| 10 | g.12112958A>C | CA376013466 | DHTKD1 | c.2213A>C (p.His738Pro) c.716A>C | |
| 10 | g.12112958A>G | CA376013467 | DHTKD1 | c.2213A>G (p.His738Arg) c.716A>G | |
| 10 | g.12112958A>T | CA376013468 | DHTKD1 | c.2213A>T (p.His738Leu) c.716A>T | |
| 10 | g.12112959C>A | CA376013469 | DHTKD1 | c.2214C>A (p.His738Gln) c.717C>A | |
| 10 | g.12112959C>G | CA376013470 | DHTKD1 | c.2214C>G (p.His738Gln) c.717C>G | |
| 10 | g.12112959C>T | CA468220189 | DHTKD1 | c.2214C>T (p.His738=) c.717C>T | |
| 10 | g.12112960C>A | CA376013471 | DHTKD1 | c.2215C>A (p.Pro739Thr) c.718C>A | |
| 10 | g.12112960C>G | CA376013472 | DHTKD1 | c.2215C>G (p.Pro739Ala) c.718C>G | gnomAD v4 |
| 10 | g.12112960C>T | CA376013473 | DHTKD1 | c.2215C>T (p.Pro739Ser) c.718C>T | |
| 10 | g.12112961C>A | CA376013474 | DHTKD1 | c.2216C>A (p.Pro739Gln) c.719C>A | |
| 10 | g.12112961C= | CA1890970531 | DHTKD1 | c.2216C= (p.Pro739=) c.719C= | |
| 10 | g.12112961C>G | CA376013476 | DHTKD1 | c.2216C>G (p.Pro739Arg) c.719C>G | |
| 10 | g.12112961C>T | CA376013475 | DHTKD1 | c.2216C>T (p.Pro739Leu) c.719C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12112962A= | CA1890970534 | DHTKD1 | c.2217A= (p.Pro739=) c.720A= | |
| 10 | g.12112962A>C | CA468220190 | DHTKD1 | c.2217A>C (p.Pro739=) c.720A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12112962A>G | CA468220191 | DHTKD1 | c.2217A>G (p.Pro739=) c.720A>G | |
| 10 | g.12112962A>T | CA468220192 | DHTKD1 | c.2217A>T (p.Pro739=) c.720A>T | |
| 10 | g.12112963A= | CA1890970538 | DHTKD1 | c.2218A= (p.Thr740=) c.721A= | |
| 10 | g.12112963A>C | CA5408174 | DHTKD1 | c.2218A>C (p.Thr740Pro) c.721A>C | dbSNP ExAC gnomAD v4 |
| 10 | g.12112963A>G | CA376013478 | DHTKD1 | c.2218A>G (p.Thr740Ala) c.721A>G | |
| 10 | g.12112963A>T | CA376013477 | DHTKD1 | c.2218A>T (p.Thr740Ser) c.721A>T | gnomAD v4 |
| 10 | g.12112964C>A | CA376013479 | DHTKD1 | c.2219C>A (p.Thr740Lys) c.722C>A | |
| 10 | g.12112964C>G | CA376013481 | DHTKD1 | c.2219C>G (p.Thr740Arg) c.722C>G | |
| 10 | g.12112964C>T | CA376013480 | DHTKD1 | c.2219C>T (p.Thr740Ile) c.722C>T | |
| 10 | g.12112965A= | CA1890970544 | DHTKD1 | c.2220A= (p.Thr740=) c.723A= | |
| 10 | g.12112965A>C | CA468220193 | DHTKD1 | c.2220A>C (p.Thr740=) c.723A>C | |
| 10 | g.12112965A>G | CA468220194 | DHTKD1 | c.2220A>G (p.Thr740=) c.723A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12112965A>T | CA468220195 | DHTKD1 | c.2220A>T (p.Thr740=) c.723A>T | |
| 10 | g.12112966A>C | CA376013482 | DHTKD1 | c.2221A>C (p.Thr741Pro) c.724A>C | |
| 10 | g.12112966A>G | CA376013483 | DHTKD1 | c.2221A>G (p.Thr741Ala) c.724A>G | |
| 10 | g.12112966A>T | CA376013484 | DHTKD1 | c.2221A>T (p.Thr741Ser) c.724A>T | |
| 10 | g.12112967C>A | CA376013485 | DHTKD1 | c.2222C>A (p.Thr741Asn) c.725C>A | |
| 10 | g.12112967C>G | CA376013486 | DHTKD1 | c.2222C>G (p.Thr741Ser) c.725C>G | |
| 10 | g.12112967C>T | CA376013487 | DHTKD1 | c.2222C>T (p.Thr741Ile) c.725C>T | gnomAD v4 |
| 10 | g.12112968T>A | CA468220196 | DHTKD1 | c.2223T>A (p.Thr741=) c.726T>A | |
| 10 | g.12112968T>C | CA5408175 | DHTKD1 | c.2223T>C (p.Thr741=) c.726T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12112968T>G | CA468220197 | DHTKD1 | c.2223T>G (p.Thr741=) c.726T>G | |
| 10 | g.12112968T= | CA1890970547 | DHTKD1 | c.2223T= (p.Thr741=) c.726T= | |
| 10 | g.12112969C>A | CA376013488 | DHTKD1 | c.2224C>A (p.Pro742Thr) c.727C>A | |
| 10 | g.12112969C= | CA1890970552 | DHTKD1 | c.2224C= (p.Pro742=) c.727C= | |
| 10 | g.12112969C>G | CA376013489 | DHTKD1 | c.2224C>G (p.Pro742Ala) c.727C>G | |
| 10 | g.12112969C>T | CA376013490 | DHTKD1 | c.2224C>T (p.Pro742Ser) c.727C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12112970C>A | CA376013491 | DHTKD1 | c.2225C>A (p.Pro742His) c.728C>A | |
| 10 | g.12112970C= | CA1890970557 | DHTKD1 | c.2225C= (p.Pro742=) c.728C= | |
| 10 | g.12112970C>G | CA376013492 | DHTKD1 | c.2225C>G (p.Pro742Arg) c.728C>G | |
| 10 | g.12112970C>T | CA376013493 | DHTKD1 | c.2225C>T (p.Pro742Leu) c.728C>T | dbSNP gnomAD v4 |
| 10 | g.12112971T>A | CA468220198 | DHTKD1 | c.2226T>A (p.Pro742=) c.729T>A | |
| 10 | g.12112971T>C | CA5408176 | DHTKD1 | c.2226T>C (p.Pro742=) c.729T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12112971T>G | CA468220199 | DHTKD1 | c.2226T>G (p.Pro742=) c.729T>G | |
| 10 | g.12112971T= | CA1890970562 | DHTKD1 | c.2226T= (p.Pro742=) c.729T= | |
| 10 | g.12112972G>A | CA376013494 | DHTKD1 | c.2227G>A (p.Ala743Thr) c.730G>A | gnomAD v4 |
| 10 | g.12112972G>C | CA376013495 | DHTKD1 | c.2227G>C (p.Ala743Pro) c.730G>C | |
| 10 | g.12112972G>T | CA376013496 | DHTKD1 | c.2227G>T (p.Ala743Ser) c.730G>T | |
| 10 | g.12112973C>A | CA5408177 | DHTKD1 | c.2228C>A (p.Ala743Glu) c.731C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12112973C= | CA1890970566 | DHTKD1 | c.2228C= (p.Ala743=) c.731C= | |
| 10 | g.12112973C>G | CA376013497 | DHTKD1 | c.2228C>G (p.Ala743Gly) c.731C>G | |
| 10 | g.12112973C>T | CA5408178 | DHTKD1 | c.2228C>T (p.Ala743Val) c.731C>T | dbSNP ExAC gnomAD v2 |
| 10 | g.12112974del | CA2608250735 | DHTKD1 | c.2229del (p.Gln744SerfsTer?) c.732del | gnomAD v4 |
| 10 | g.12112974A= | CA1890970571 | DHTKD1 | c.2229A= (p.Ala743=) c.732A= | |
| 10 | g.12112974A>C | CA468220200 | DHTKD1 | c.2229A>C (p.Ala743=) c.732A>C | |
| 10 | g.12112974A>G | CA468220201 | DHTKD1 | c.2229A>G (p.Ala743=) c.732A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12112974A>T | CA468220202 | DHTKD1 | c.2229A>T (p.Ala743=) c.732A>T | |
| 10 | g.12112975C>A | CA376013498 | DHTKD1 | c.2230C>A (p.Gln744Lys) c.733C>A | |
| 10 | g.12112975C>G | CA376013499 | DHTKD1 | c.2230C>G (p.Gln744Glu) c.733C>G | |
| 10 | g.12112975C>T | CA376013500 | DHTKD1 | c.2230C>T (p.Gln744Ter) c.733C>T | |
| 10 | g.12112976A>C | CA376013501 | DHTKD1 | c.2231A>C (p.Gln744Pro) c.734A>C | |
| 10 | g.12112976A>G | CA376013502 | DHTKD1 | c.2231A>G (p.Gln744Arg) c.734A>G | gnomAD v4 |
| 10 | g.12112976A>T | CA376013503 | DHTKD1 | c.2231A>T (p.Gln744Leu) c.734A>T | |
| 10 | g.12112977G>A | CA468220203 | DHTKD1 | c.2232G>A (p.Gln744=) c.735G>A | |
| 10 | g.12112977G>C | CA376013504 | DHTKD1 | c.2232G>C (p.Gln744His) c.735G>C | |
| 10 | g.12112977G>T | CA376013505 | DHTKD1 | c.2232G>T (p.Gln744His) c.735G>T | |
| 10 | g.12112978T>A | CA376013506 | DHTKD1 | c.2233T>A (p.Tyr745Asn) c.736T>A | |
| 10 | g.12112978T>C | CA376013507 | DHTKD1 | c.2233T>C (p.Tyr745His) c.736T>C | ClinVar |
| 10 | g.12112978T>G | CA376013508 | DHTKD1 | c.2233T>G (p.Tyr745Asp) c.736T>G | |
| 10 | g.12112979A= | CA1890970575 | DHTKD1 | c.2234A= (p.Tyr745=) c.737A= | |
| 10 | g.12112979A>C | CA376013509 | DHTKD1 | c.2234A>C (p.Tyr745Ser) c.737A>C | |
| 10 | g.12112979A>G | CA5408179 | DHTKD1 | c.2234A>G (p.Tyr745Cys) c.737A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12112979A>T | CA376013510 | DHTKD1 | c.2234A>T (p.Tyr745Phe) c.737A>T | |
| 10 | g.12112980T>A | CA376013511 | DHTKD1 | c.2235T>A (p.Tyr745Ter) c.738T>A | |
| 10 | g.12112980T>C | CA468220204 | DHTKD1 | c.2235T>C (p.Tyr745=) c.738T>C | |
| 10 | g.12112980T>G | CA376013512 | DHTKD1 | c.2235T>G (p.Tyr745Ter) c.738T>G | ClinVar |
| 10 | g.12112981T>A | CA376013513 | DHTKD1 | c.2236T>A (p.Phe746Ile) c.739T>A | |
| 10 | g.12112981T>C | CA376013514 | DHTKD1 | c.2236T>C (p.Phe746Leu) c.739T>C | |
| 10 | g.12112981T>G | CA376013515 | DHTKD1 | c.2236T>G (p.Phe746Val) c.739T>G | |
| 10 | g.12112982T>A | CA376013520 | DHTKD1 | c.2237T>A (p.Phe746Tyr) c.740T>A | |
| 10 | g.12112982T>C | CA376013519 | DHTKD1 | c.2237T>C (p.Phe746Ser) c.740T>C | |
| 10 | g.12112982T>G | CA376013517 | DHTKD1 | c.2237T>G (p.Phe746Cys) c.740T>G | |
| 10 | g.12112983C>A | CA376013522 | DHTKD1 | c.2238C>A (p.Phe746Leu) c.741C>A | |
| 10 | g.12112983C= | CA1890970581 | DHTKD1 | c.2238C= (p.Phe746=) c.741C= | |
| 10 | g.12112983C>G | CA376013525 | DHTKD1 | c.2238C>G (p.Phe746Leu) c.741C>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12112983C>T | CA468220205 | DHTKD1 | c.2238C>T (p.Phe746=) c.741C>T | ClinVar |
| 10 | g.12112984C>A | CA376013527 | DHTKD1 | c.2239C>A (p.His747Asn) c.742C>A | |
| 10 | g.12112984C= | CA1890970587 | DHTKD1 | c.2239C= (p.His747=) c.742C= | |
| 10 | g.12112984C>G | CA376013529 | DHTKD1 | c.2239C>G (p.His747Asp) c.742C>G | |
| 10 | g.12112984C>T | CA5408180 | DHTKD1 | c.2239C>T (p.His747Tyr) c.742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12112985A>C | CA376013532 | DHTKD1 | c.2240A>C (p.His747Pro) c.743A>C | |
| 10 | g.12112985A>G | CA376013534 | DHTKD1 | c.2240A>G (p.His747Arg) c.743A>G | |
| 10 | g.12112985A>T | CA376013536 | DHTKD1 | c.2240A>T (p.His747Leu) c.743A>T | |
| 10 | g.12112986del | CA2608250738 | DHTKD1 | c.2241del (p.Leu748CysfsTer?) c.744del | gnomAD v4 |
| 10 | g.12112986C>A | CA376013538 | DHTKD1 | c.2241C>A (p.His747Gln) c.744C>A | |
| 10 | g.12112986C>G | CA376013539 | DHTKD1 | c.2241C>G (p.His747Gln) c.744C>G | |
| 10 | g.12112986C>T | CA468220206 | DHTKD1 | c.2241C>T (p.His747=) c.744C>T | |
| 10 | g.12112987T>A | CA376013541 | DHTKD1 | c.2242T>A (p.Leu748Met) c.745T>A | |
| 10 | g.12112987T>C | CA468220207 | DHTKD1 | c.2242T>C (p.Leu748=) c.745T>C | dbSNP |
| 10 | g.12112987T>G | CA376013543 | DHTKD1 | c.2242T>G (p.Leu748Val) c.745T>G | ClinVar dbSNP |
| 10 | g.12112987T= | CA1890970595 | DHTKD1 | c.2242T= (p.Leu748=) c.745T= | |
| 10 | g.12112988T>A | CA376013549 | DHTKD1 | c.2243T>A (p.Leu748Ter) c.746T>A | |
| 10 | g.12112988T>C | CA376013547 | DHTKD1 | c.2243T>C (p.Leu748Ser) c.746T>C | |
| 10 | g.12112988T>G | CA376013545 | DHTKD1 | c.2243T>G (p.Leu748Trp) c.746T>G | |
| 10 | g.12112988_12112989insTGGGAGGCCGAGGCGGGCGGATCAC | CA2786660582 | DHTKD1 | c.2243_2244insTGGGAGGCCGAGGCGGGCGGATCAC (p.Leu748PhefsTer11) c.746_747insTGGGAGGCCGAGGCGGGCGGATCAC | |
| 10 | g.12112989G>A | CA468220208 | DHTKD1 | c.2244G>A (p.Leu748=) c.747G>A | |
| 10 | g.12112989G>C | CA376013550 | DHTKD1 | c.2244G>C (p.Leu748Phe) c.747G>C | |
| 10 | g.12112989G>T | CA376013552 | DHTKD1 | c.2244G>T (p.Leu748Phe) c.747G>T | |
| 10 | g.12112990C>A | CA376013554 | DHTKD1 | c.2245C>A (p.Leu749Ile) c.748C>A | |
| 10 | g.12112990C>G | CA376013555 | DHTKD1 | c.2245C>G (p.Leu749Val) c.748C>G | |
| 10 | g.12112990C>T | CA376013557 | DHTKD1 | c.2245C>T (p.Leu749Phe) c.748C>T | gnomAD v4 |
| 10 | g.12112991T>A | CA376013559 | DHTKD1 | c.2246T>A (p.Leu749His) c.749T>A | |
| 10 | g.12112991T>C | CA376013566 | DHTKD1 | c.2246T>C (p.Leu749Pro) c.749T>C | |
| 10 | g.12112991T>G | CA376013569 | DHTKD1 | c.2246T>G (p.Leu749Arg) c.749T>G | |
| 10 | g.12112992T>A | CA468220209 | DHTKD1 | c.2247T>A (p.Leu749=) c.750T>A | |
| 10 | g.12112992T>C | CA468220210 | DHTKD1 | c.2247T>C (p.Leu749=) c.750T>C | |
| 10 | g.12112992T>G | CA468220211 | DHTKD1 | c.2247T>G (p.Leu749=) c.750T>G | |
| 10 | g.12112993A= | CA1890970603 | DHTKD1 | c.2248A= (p.Arg750=) c.751A= | |
| 10 | g.12112993A>C | CA468220212 | DHTKD1 | c.2248A>C (p.Arg750=) c.751A>C | |
| 10 | g.12112993A>G | CA5408181 | DHTKD1 | c.2248A>G (p.Arg750Gly) c.751A>G | dbSNP ExAC gnomAD v2 |
| 10 | g.12112993A>T | CA376013571 | DHTKD1 | c.2248A>T (p.Arg750Trp) c.751A>T | |
| 10 | g.12112993_12113008delinsAGGAGACAGATGGTCC | CA1890970605 | DHTKD1 | c.2248_2263delinsAGGAGACAGATGGTCC (p.Arg750=) c.751_766delinsAGGAGACAGATGGTCC | |
| 10 | g.12112994G>A | CA376013573 | DHTKD1 | c.2249G>A (p.Arg750Lys) c.752G>A | gnomAD v4 |
| 10 | g.12112994G>C | CA376013575 | DHTKD1 | c.2249G>C (p.Arg750Thr) c.752G>C | |
| 10 | g.12112994G>T | CA376013577 | DHTKD1 | c.2249G>T (p.Arg750Met) c.752G>T | gnomAD v4 |
| 10 | g.12112997_12113011del | CA1139661384 | DHTKD1 | c.2252_2266del (p.Arg751_Arg755del) c.755_769del | ClinVar dbSNP |
| 10 | g.12112995G>A | CA5408182 | DHTKD1 | c.2250G>A (p.Arg750=) c.753G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12112995G>C | CA376013579 | DHTKD1 | c.2250G>C (p.Arg750Ser) c.753G>C | |
| 10 | g.12112995G= | CA1890970619 | DHTKD1 | c.2250G= (p.Arg750=) c.753G= | |
| 10 | g.12112995G>T | CA376013581 | DHTKD1 | c.2250G>T (p.Arg750Ser) c.753G>T | |
| 10 | g.12112996A= | CA1890970622 | DHTKD1 | c.2251A= (p.Arg751=) c.754A= | |
| 10 | g.12112996A>C | CA5408183 | DHTKD1 | c.2251A>C (p.Arg751=) c.754A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12112996A>G | CA376013585 | DHTKD1 | c.2251A>G (p.Arg751Gly) c.754A>G | |
| 10 | g.12112996A>T | CA376013587 | DHTKD1 | c.2251A>T (p.Arg751Ter) c.754A>T | |
| 10 | g.12112997G>A | CA376013589 | DHTKD1 | c.2252G>A (p.Arg751Lys) c.755G>A | |
| 10 | g.12112997G>C | CA376013590 | DHTKD1 | c.2252G>C (p.Arg751Thr) c.755G>C | gnomAD v4 |
| 10 | g.12112997G>T | CA376013591 | DHTKD1 | c.2252G>T (p.Arg751Ile) c.755G>T | |
| 10 | g.12112998A= | CA1890970626 | DHTKD1 | c.2253A= (p.Arg751=) c.756A= | |
| 10 | g.12112998A>C | CA376013592 | DHTKD1 | c.2253A>C (p.Arg751Ser) c.756A>C | |
| 10 | g.12112998A>G | CA468220213 | DHTKD1 | c.2253A>G (p.Arg751=) c.756A>G | dbSNP gnomAD v4 |
| 10 | g.12112998A>T | CA376013593 | DHTKD1 | c.2253A>T (p.Arg751Ser) c.756A>T | |
| 10 | g.12112998_12113015delinsACAGATGGTCCGGAACTT | CA1890970625 | DHTKD1 | c.2253_2270delinsACAGATGGTCCGGAACTT (p.Arg751=) c.756_773delinsACAGATGGTCCGGAACTT | |
| 10 | g.12112999C>A | CA376013594 | DHTKD1 | c.2254C>A (p.Gln752Lys) c.757C>A | |
| 10 | g.12112999C>G | CA376013596 | DHTKD1 | c.2254C>G (p.Gln752Glu) c.757C>G | |
| 10 | g.12112999C>T | CA376013602 | DHTKD1 | c.2254C>T (p.Gln752Ter) c.757C>T | |
| 10 | g.12113003_12113019del | CA1890970632 | DHTKD1 | c.2258_2274del (p.Met753LysfsTer9) c.761_777del | dbSNP |
| 10 | g.12113000A>C | CA376013606 | DHTKD1 | c.2255A>C (p.Gln752Pro) c.758A>C | |
| 10 | g.12113000A>G | CA376013608 | DHTKD1 | c.2255A>G (p.Gln752Arg) c.758A>G | |
| 10 | g.12113000A>T | CA376013605 | DHTKD1 | c.2255A>T (p.Gln752Leu) c.758A>T | |
| 10 | g.12113001G>A | CA468220214 | DHTKD1 | c.2256G>A (p.Gln752=) c.759G>A | |
| 10 | g.12113001G>C | CA376013610 | DHTKD1 | c.2256G>C (p.Gln752His) c.759G>C | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12113001G= | CA1890970636 | DHTKD1 | c.2256G= (p.Gln752=) c.759G= | |
| 10 | g.12113001G>T | CA376013612 | DHTKD1 | c.2256G>T (p.Gln752His) c.759G>T | |
| 10 | g.12113002A>C | CA376013613 | DHTKD1 | c.2257A>C (p.Met753Leu) c.760A>C | |
| 10 | g.12113002A>G | CA376013615 | DHTKD1 | c.2257A>G (p.Met753Val) c.760A>G | |
| 10 | g.12113002A>T | CA376013617 | DHTKD1 | c.2257A>T (p.Met753Leu) c.760A>T | |
| 10 | g.12113003T>A | CA376013623 | DHTKD1 | c.2258T>A (p.Met753Lys) c.761T>A | |
| 10 | g.12113003T>C | CA376013621 | DHTKD1 | c.2258T>C (p.Met753Thr) c.761T>C | |
| 10 | g.12113003T>G | CA376013619 | DHTKD1 | c.2258T>G (p.Met753Arg) c.761T>G | |
| 10 | g.12113004G>A | CA376013625 | DHTKD1 | c.2259G>A (p.Met753Ile) c.762G>A | |
| 10 | g.12113004G>C | CA376013627 | DHTKD1 | c.2259G>C (p.Met753Ile) c.762G>C | gnomAD v4 |
| 10 | g.12113004G= | CA1890970641 | DHTKD1 | c.2259G= (p.Met753=) c.762G= | |
| 10 | g.12113004G>T | CA5408184 | DHTKD1 | c.2259G>T (p.Met753Ile) c.762G>T | dbSNP ExAC gnomAD v2 |
| 10 | g.12113005G>A | CA376013630 | DHTKD1 | c.2260G>A (p.Val754Ile) c.763G>A | dbSNP |
| 10 | g.12113005G>C | CA376013632 | DHTKD1 | c.2260G>C (p.Val754Leu) c.763G>C | |
| 10 | g.12113005G>T | CA376013634 | DHTKD1 | c.2260G>T (p.Val754Phe) c.763G>T | |
| 10 | g.12113006T>A | CA376013635 | DHTKD1 | c.2261T>A (p.Val754Asp) c.764T>A | ClinVar COSMIC |
| 10 | g.12113006T>C | CA376013639 | DHTKD1 | c.2261T>C (p.Val754Ala) c.764T>C | |
| 10 | g.12113006T>G | CA376013637 | DHTKD1 | c.2261T>G (p.Val754Gly) c.764T>G | |
| 10 | g.12113007C>A | CA468220215 | DHTKD1 | c.2262C>A (p.Val754=) c.765C>A | |
| 10 | g.12113007C= | CA1890970643 | DHTKD1 | c.2262C= (p.Val754=) c.765C= | |
| 10 | g.12113007C>G | CA468220216 | DHTKD1 | c.2262C>G (p.Val754=) c.765C>G | |
| 10 | g.12113007C>T | CA202560074 | DHTKD1 | c.2262C>T (p.Val754=) c.765C>T | dbSNP |
| 10 | g.12113008C>A | CA468220217 | DHTKD1 | c.2263C>A (p.Arg755=) c.766C>A | |
| 10 | g.12113008C= | CA1890970647 | DHTKD1 | c.2263C= (p.Arg755=) c.766C= | |
| 10 | g.12113008C>G | CA376013643 | DHTKD1 | c.2263C>G (p.Arg755Gly) c.766C>G | |
| 10 | g.12113008C>T | CA5408185 | DHTKD1 | c.2263C>T (p.Arg755Trp) c.766C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113009G>A | CA5408186 | DHTKD1 | c.2264G>A (p.Arg755Gln) c.767G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12113009G>C | CA376013646 | DHTKD1 | c.2264G>C (p.Arg755Pro) c.767G>C | ClinVar |
| 10 | g.12113009G= | CA1890970649 | DHTKD1 | c.2264G= (p.Arg755=) c.767G= | |
| 10 | g.12113009G>T | CA376013648 | DHTKD1 | c.2264G>T (p.Arg755Leu) c.767G>T | |
| 10 | g.12113010G>A | CA468220218 | DHTKD1 | c.2265G>A (p.Arg755=) c.768G>A | dbSNP gnomAD v2 |
| 10 | g.12113010G>C | CA468220219 | DHTKD1 | c.2265G>C (p.Arg755=) c.768G>C | |
| 10 | g.12113010G= | CA1890970652 | DHTKD1 | c.2265G= (p.Arg755=) c.768G= | |
| 10 | g.12113010G>T | CA468220220 | DHTKD1 | c.2265G>T (p.Arg755=) c.768G>T | |
| 10 | g.12113011A= | CA1890970654 | DHTKD1 | c.2266A= (p.Asn756=) c.769A= | |
| 10 | g.12113011A>C | CA376013650 | DHTKD1 | c.2266A>C (p.Asn756His) c.769A>C | |
| 10 | g.12113011A>G | CA376013651 | DHTKD1 | c.2266A>G (p.Asn756Asp) c.769A>G | |
| 10 | g.12113011A>T | CA5408187 | DHTKD1 | c.2266A>T (p.Asn756Tyr) c.769A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113012A>C | CA376013657 | DHTKD1 | c.2267A>C (p.Asn756Thr) c.770A>C | |
| 10 | g.12113012A>G | CA376013658 | DHTKD1 | c.2267A>G (p.Asn756Ser) c.770A>G | |
| 10 | g.12113012A>T | CA376013659 | DHTKD1 | c.2267A>T (p.Asn756Ile) c.770A>T | |
| 10 | g.12113013C>A | CA376013663 | DHTKD1 | c.2268C>A (p.Asn756Lys) c.771C>A | |
| 10 | g.12113013C>G | CA376013661 | DHTKD1 | c.2268C>G (p.Asn756Lys) c.771C>G | |
| 10 | g.12113013C>T | CA468220225 | DHTKD1 | c.2268C>T (p.Asn756=) c.771C>T | gnomAD v4 |
| 10 | g.12113014T>A | CA376013666 | DHTKD1 | c.2269T>A (p.Phe757Ile) c.772T>A | |
| 10 | g.12113014T>C | CA376013669 | DHTKD1 | c.2269T>C (p.Phe757Leu) c.772T>C | |
| 10 | g.12113014T>G | CA376013667 | DHTKD1 | c.2269T>G (p.Phe757Val) c.772T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113014T= | CA1890970657 | DHTKD1 | c.2269T= (p.Phe757=) c.772T= | |
| 10 | g.12113015T>A | CA376013671 | DHTKD1 | c.2270T>A (p.Phe757Tyr) c.773T>A | |
| 10 | g.12113015T>C | CA376013674 | DHTKD1 | c.2270T>C (p.Phe757Ser) c.773T>C | |
| 10 | g.12113015T>G | CA376013673 | DHTKD1 | c.2270T>G (p.Phe757Cys) c.773T>G | |
| 10 | g.12113016C>A | CA376013677 | DHTKD1 | c.2271C>A (p.Phe757Leu) c.774C>A | |
| 10 | g.12113016C= | CA1890970660 | DHTKD1 | c.2271C= (p.Phe757=) c.774C= | |
| 10 | g.12113016C>G | CA376013679 | DHTKD1 | c.2271C>G (p.Phe757Leu) c.774C>G | gnomAD v4 |
| 10 | g.12113016C>T | CA468220242 | DHTKD1 | c.2271C>T (p.Phe757=) c.774C>T | dbSNP |
| 10 | g.12113017A>C | CA468220247 | DHTKD1 | c.2272A>C (p.Arg758=) c.775A>C | |
| 10 | g.12113017A>G | CA376013681 | DHTKD1 | c.2272A>G (p.Arg758Gly) c.775A>G | |
| 10 | g.12113017A>T | CA376013683 | DHTKD1 | c.2272A>T (p.Arg758Ter) c.775A>T | |
| 10 | g.12113018G>A | CA5408188 | DHTKD1 | c.2273G>A (p.Arg758Lys) c.776G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12113018G>C | CA376013686 | DHTKD1 | c.2273G>C (p.Arg758Thr) c.776G>C | dbSNP |
| 10 | g.12113018G= | CA1890970663 | DHTKD1 | c.2273G= (p.Arg758=) c.776G= | |
| 10 | g.12113018G>T | CA376013687 | DHTKD1 | c.2273G>T (p.Arg758Ile) c.776G>T | gnomAD v4 |
| 10 | g.12113019A>C | CA376013689 | DHTKD1 | c.2274A>C (p.Arg758Ser) c.777A>C | |
| 10 | g.12113019A>G | CA468220256 | DHTKD1 | c.2274A>G (p.Arg758=) c.777A>G | |
| 10 | g.12113019A>T | CA376013690 | DHTKD1 | c.2274A>T (p.Arg758Ser) c.777A>T | |
| 10 | g.12113020A>C | CA376013692 | DHTKD1 | c.2275A>C (p.Lys759Gln) c.778A>C | |
| 10 | g.12113020A>G | CA376013694 | DHTKD1 | c.2275A>G (p.Lys759Glu) c.778A>G | |
| 10 | g.12113020A>T | CA376013696 | DHTKD1 | c.2275A>T (p.Lys759Ter) c.778A>T | |
| 10 | g.12113021A>C | CA376013698 | DHTKD1 | c.2276A>C (p.Lys759Thr) c.779A>C | |
| 10 | g.12113021A>G | CA376013700 | DHTKD1 | c.2276A>G (p.Lys759Arg) c.779A>G | gnomAD v4 |
| 10 | g.12113021A>T | CA376013702 | DHTKD1 | c.2276A>T (p.Lys759Ile) c.779A>T | |
| 10 | g.12113022A>C | CA376013704 | DHTKD1 | c.2277A>C (p.Lys759Asn) c.780A>C | |
| 10 | g.12113022A>G | CA468220265 | DHTKD1 | c.2277A>G (p.Lys759=) c.780A>G | |
| 10 | g.12113022A>T | CA376013706 | DHTKD1 | c.2277A>T (p.Lys759Asn) c.780A>T | |
| 10 | g.12113023C>A | CA376013708 | DHTKD1 | c.2278C>A (p.Pro760Thr) c.781C>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12113023C= | CA1890970665 | DHTKD1 | c.2278C= (p.Pro760=) c.781C= | |
| 10 | g.12113023C>G | CA376013711 | DHTKD1 | c.2278C>G (p.Pro760Ala) c.781C>G | |
| 10 | g.12113023C>T | CA376013712 | DHTKD1 | c.2278C>T (p.Pro760Ser) c.781C>T | gnomAD v4 |
| 10 | g.12113024del | CA2608250747 | DHTKD1 | c.2279del (p.Pro760HisfsTer?) c.782del | gnomAD v4 |
| 10 | g.12113024C>A | CA376013715 | DHTKD1 | c.2279C>A (p.Pro760Gln) c.782C>A | |
| 10 | g.12113024C= | CA1890970669 | DHTKD1 | c.2279C= (p.Pro760=) c.782C= | |
| 10 | g.12113024C>G | CA5408189 | DHTKD1 | c.2279C>G (p.Pro760Arg) c.782C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113024C>T | CA376013717 | DHTKD1 | c.2279C>T (p.Pro760Leu) c.782C>T | gnomAD v4 |
| 10 | g.12113025A= | CA1890970671 | DHTKD1 | c.2280A= (p.Pro760=) c.783A= | |
| 10 | g.12113025A>C | CA468220276 | DHTKD1 | c.2280A>C (p.Pro760=) c.783A>C | |
| 10 | g.12113025A>G | CA5408190 | DHTKD1 | c.2280A>G (p.Pro760=) c.783A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12113025A>T | CA468220279 | DHTKD1 | c.2280A>T (p.Pro760=) c.783A>T | gnomAD v4 |
| 10 | g.12113025_12113026insAACACACCCAA | CA2786660584 | DHTKD1 | c.2280_2281insAACACACCCAA (p.Leu761AsnfsTer?) c.783_784insAACACACCCAA | |
| 10 | g.12113026_12113027insACCCAAACACACCCAAC | CA2786660583 | DHTKD1 | c.2281_2282insACCCAAACACACCCAAC (p.Leu761HisfsTer?) c.784_785insACCCAAACACACCCAAC | |
| 10 | g.12113026C>A | CA376013718 | DHTKD1 | c.2281C>A (p.Leu761Ile) c.784C>A | |
| 10 | g.12113026C>G | CA376013719 | DHTKD1 | c.2281C>G (p.Leu761Val) c.784C>G | gnomAD v4 |
| 10 | g.12113026C>T | CA376013721 | DHTKD1 | c.2281C>T (p.Leu761Phe) c.784C>T | gnomAD v4 |
| 10 | g.12113027T>A | CA376013725 | DHTKD1 | c.2282T>A (p.Leu761His) c.785T>A | |
| 10 | g.12113027T>C | CA5408191 | DHTKD1 | c.2282T>C (p.Leu761Pro) c.785T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12113027T>G | CA376013722 | DHTKD1 | c.2282T>G (p.Leu761Arg) c.785T>G | gnomAD v4 |
| 10 | g.12113027T= | CA1890970674 | DHTKD1 | c.2282T= (p.Leu761=) c.785T= | |
| 10 | g.12113028C>A | CA468220289 | DHTKD1 | c.2283C>A (p.Leu761=) c.786C>A | |
| 10 | g.12113028C>G | CA468220290 | DHTKD1 | c.2283C>G (p.Leu761=) c.786C>G | |
| 10 | g.12113028C>T | CA468220292 | DHTKD1 | c.2283C>T (p.Leu761=) c.786C>T | |
| 10 | g.12113028_12113031delinsCATT | CA1890970680 | DHTKD1 | c.2283_2286delinsCATT (p.Leu761=) | |
| 10 | g.12113029A>C | CA376013727 | DHTKD1 | c.2284A>C (p.Ile762Leu) c.787A>C | |
| 10 | g.12113029A>G | CA376013728 | DHTKD1 | c.2284A>G (p.Ile762Val) c.787A>G | ClinVar dbSNP |
| 10 | g.12113029A>T | CA376013729 | DHTKD1 | c.2284A>T (p.Ile762Phe) c.787A>T | |
| 10 | g.12113029_12113031del | CA5408192 | DHTKD1 | c.2284_2286del (p.Ile762del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113030T>A | CA376013730 | DHTKD1 | c.2285T>A (p.Ile762Asn) | |
| 10 | g.12113030T>C | CA5408193 | DHTKD1 | c.2285T>C (p.Ile762Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113030T>G | CA376013733 | DHTKD1 | c.2285T>G (p.Ile762Ser) | |
| 10 | g.12113030T= | CA1890970684 | DHTKD1 | c.2285T= (p.Ile762=) | |
| 10 | g.12113031T>A | CA468220295 | DHTKD1 | c.2286T>A (p.Ile762=) | |
| 10 | g.12113031T>C | CA468220297 | DHTKD1 | c.2286T>C (p.Ile762=) | |
| 10 | g.12113031T>G | CA376013736 | DHTKD1 | c.2286T>G (p.Ile762Met) | |
| 10 | g.12113032G>A | CA376013739 | DHTKD1 | c.2287G>A (p.Val763Ile) | |
| 10 | g.12113032G>C | CA376013741 | DHTKD1 | c.2287G>C (p.Val763Leu) | |
| 10 | g.12113032G>T | CA376013744 | DHTKD1 | c.2287G>T (p.Val763Phe) | |
| 10 | g.12113033T>A | CA376013749 | DHTKD1 | c.2288T>A (p.Val763Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12113033T>C | CA376013748 | DHTKD1 | c.2288T>C (p.Val763Ala) | ClinVar dbSNP |
| 10 | g.12113033T>G | CA376013747 | DHTKD1 | c.2288T>G (p.Val763Gly) | |
| 10 | g.12113033T= | CA1890970689 | DHTKD1 | c.2288T= (p.Val763=) | |
| 10 | g.12113034T>A | CA468220309 | DHTKD1 | c.2289T>A (p.Val763=) | |
| 10 | g.12113034T>C | CA468220310 | DHTKD1 | c.2289T>C (p.Val763=) | |
| 10 | g.12113034T>G | CA468220312 | DHTKD1 | c.2289T>G (p.Val763=) | |
| 10 | g.12113035G>A | CA376013752 | DHTKD1 | c.2290G>A (p.Ala764Thr) | |
| 10 | g.12113035G>C | CA376013755 | DHTKD1 | c.2290G>C (p.Ala764Pro) | |
| 10 | g.12113035G= | CA1890970694 | DHTKD1 | c.2290G= (p.Ala764=) | |
| 10 | g.12113035G>T | CA376013757 | DHTKD1 | c.2290G>T (p.Ala764Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12113036C>A | CA376013759 | DHTKD1 | c.2291C>A (p.Ala764Asp) | |
| 10 | g.12113036C>G | CA376013761 | DHTKD1 | c.2291C>G (p.Ala764Gly) | |
| 10 | g.12113036C>T | CA376013763 | DHTKD1 | c.2291C>T (p.Ala764Val) | |
| 10 | g.12113037T>A | CA468220326 | DHTKD1 | c.2292T>A (p.Ala764=) | |
| 10 | g.12113037T>C | CA468220327 | DHTKD1 | c.2292T>C (p.Ala764=) | |
| 10 | g.12113037T>G | CA468220329 | DHTKD1 | c.2292T>G (p.Ala764=) | |
| 10 | g.12113038T>A | CA376013765 | DHTKD1 | c.2293T>A (p.Ser765Thr) | |
| 10 | g.12113038T>C | CA5408194 | DHTKD1 | c.2293T>C (p.Ser765Pro) | dbSNP ExAC gnomAD v4 |
| 10 | g.12113038T>G | CA376013770 | DHTKD1 | c.2293T>G (p.Ser765Ala) | gnomAD v4 |
| 10 | g.12113038T= | CA1890970698 | DHTKD1 | c.2293T= (p.Ser765=) |