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.12107900_12107911delinsCTTTTCCAGGAG | CA1890966381 | DHTKD1 | c.2048-9_2050delinsCTTTTCCAGGAG c.551-9_553delinsCTTTTCCAGGAG | |
| 10 | g.12107901_12107911del | CA660765676 | DHTKD1 | c.2048-8_2050del c.551-8_553del | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107908G>A | CA376012109 | DHTKD1 | c.2048-1G>A (n.2048-1G>A) c.551-1G>A | |
| 10 | g.12107908G>C | CA376012113 | DHTKD1 | c.2048-1G>C (n.2048-1G>C) c.551-1G>C | |
| 10 | g.12107908G>T | CA376012114 | DHTKD1 | c.2048-1G>T (n.2048-1G>T) c.551-1G>T | gnomAD v4 |
| 10 | g.12107909G>A | CA376012115 | DHTKD1 | c.2048G>A (p.Gly683Glu) c.551G>A | gnomAD v4 |
| 10 | g.12107909G>C | CA376012116 | DHTKD1 | c.2048G>C (p.Gly683Ala) c.551G>C | |
| 10 | g.12107909G>T | CA376012118 | DHTKD1 | c.2048G>T (p.Gly683Val) c.551G>T | ClinVar |
| 10 | g.12107910A>C | CA468219592 | DHTKD1 | c.2049A>C (p.Gly683=) c.552A>C | |
| 10 | g.12107910A>G | CA468219593 | DHTKD1 | c.2049A>G (p.Gly683=) c.552A>G | |
| 10 | g.12107910A>T | CA468219594 | DHTKD1 | c.2049A>T (p.Gly683=) c.552A>T | |
| 10 | g.12107911G>A | CA376012139 | DHTKD1 | c.2050G>A (p.Glu684Lys) c.553G>A | COSMIC |
| 10 | g.12107911G>C | CA376012122 | DHTKD1 | c.2050G>C (p.Glu684Gln) c.553G>C | |
| 10 | g.12107911G>T | CA376012136 | DHTKD1 | c.2050G>T (p.Glu684Ter) c.553G>T | |
| 10 | g.12107912A>C | CA376012144 | DHTKD1 | c.2051A>C (p.Glu684Ala) c.554A>C | |
| 10 | g.12107912A>G | CA376012151 | DHTKD1 | c.2051A>G (p.Glu684Gly) c.554A>G | gnomAD v4 |
| 10 | g.12107912A>T | CA376012155 | DHTKD1 | c.2051A>T (p.Glu684Val) c.554A>T | |
| 10 | g.12107913G>A | CA202555430 | DHTKD1 | c.2052G>A (p.Glu684=) c.555G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107913G>C | CA202555431 | DHTKD1 | c.2052G>C (p.Glu684Asp) c.555G>C | dbSNP |
| 10 | g.12107913G= | CA1890966390 | DHTKD1 | c.2052G= (p.Glu684=) c.555G= | |
| 10 | g.12107913G>T | CA376012163 | DHTKD1 | c.2052G>T (p.Glu684Asp) c.555G>T | |
| 10 | g.12107914G>A | CA376012164 | DHTKD1 | c.2053G>A (p.Ala685Thr) c.556G>A | gnomAD v4 |
| 10 | g.12107914G>C | CA376012166 | DHTKD1 | c.2053G>C (p.Ala685Pro) c.556G>C | |
| 10 | g.12107914G>T | CA376012165 | DHTKD1 | c.2053G>T (p.Ala685Ser) c.556G>T | |
| 10 | g.12107914_12107925delinsGCCAAGTGGCTC | CA1890966393 | DHTKD1 | c.2053_2064delinsGCCAAGTGGCTC (p.Ala685=) c.556_567delinsGCCAAGTGGCTC | |
| 10 | g.12107915C>A | CA376012170 | DHTKD1 | c.2054C>A (p.Ala685Asp) c.557C>A | gnomAD v4 |
| 10 | g.12107915C>G | CA376012179 | DHTKD1 | c.2054C>G (p.Ala685Gly) c.557C>G | |
| 10 | g.12107915C>T | CA376012183 | DHTKD1 | c.2054C>T (p.Ala685Val) c.557C>T | |
| 10 | g.12107916_12107926del | CA660765708 | DHTKD1 | c.2055_2065del (p.Lys686ThrfsTer?) c.558_568del | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107916C>A | CA468219595 | DHTKD1 | c.2055C>A (p.Ala685=) c.558C>A | |
| 10 | g.12107916C>G | CA468219596 | DHTKD1 | c.2055C>G (p.Ala685=) c.558C>G | |
| 10 | g.12107916C>T | CA468219597 | DHTKD1 | c.2055C>T (p.Ala685=) c.558C>T | |
| 10 | g.12107917A>C | CA376012185 | DHTKD1 | c.2056A>C (p.Lys686Gln) c.559A>C | gnomAD v4 |
| 10 | g.12107917A>G | CA376012186 | DHTKD1 | c.2056A>G (p.Lys686Glu) c.559A>G | |
| 10 | g.12107917A>T | CA376012187 | DHTKD1 | c.2056A>T (p.Lys686Ter) c.559A>T | |
| 10 | g.12107918A>C | CA376012188 | DHTKD1 | c.2057A>C (p.Lys686Thr) c.560A>C | |
| 10 | g.12107918A>G | CA376012189 | DHTKD1 | c.2057A>G (p.Lys686Arg) c.560A>G | gnomAD v4 |
| 10 | g.12107918A>T | CA376012191 | DHTKD1 | c.2057A>T (p.Lys686Met) c.560A>T | |
| 10 | g.12107919G>A | CA468219599 | DHTKD1 | c.2058G>A (p.Lys686=) c.561G>A | |
| 10 | g.12107919G>C | CA376012193 | DHTKD1 | c.2058G>C (p.Lys686Asn) c.561G>C | |
| 10 | g.12107919G>T | CA376012194 | DHTKD1 | c.2058G>T (p.Lys686Asn) c.561G>T | |
| 10 | g.12107920T>A | CA376012204 | DHTKD1 | c.2059T>A (p.Trp687Arg) c.562T>A | |
| 10 | g.12107920T>C | CA376012206 | DHTKD1 | c.2059T>C (p.Trp687Arg) c.562T>C | |
| 10 | g.12107920T>G | CA376012200 | DHTKD1 | c.2059T>G (p.Trp687Gly) c.562T>G | |
| 10 | g.12107921G>A | CA376012213 | DHTKD1 | c.2060G>A (p.Trp687Ter) c.563G>A | |
| 10 | g.12107921G>C | CA376012211 | DHTKD1 | c.2060G>C (p.Trp687Ser) c.563G>C | |
| 10 | g.12107921G>T | CA376012215 | DHTKD1 | c.2060G>T (p.Trp687Leu) c.563G>T | |
| 10 | g.12107921_12107922del | CA2786660365 | DHTKD1 | c.2060_2061del (p.Trp687SerfsTer?) c.563_564del | |
| 10 | g.12107922G>A | CA376012221 | DHTKD1 | c.2061G>A (p.Trp687Ter) c.564G>A | ClinVar gnomAD v4 |
| 10 | g.12107922G>C | CA5408127 | DHTKD1 | c.2061G>C (p.Trp687Cys) c.564G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107922G= | CA1890966401 | DHTKD1 | c.2061G= (p.Trp687=) c.564G= | |
| 10 | g.12107922G>T | CA376012234 | DHTKD1 | c.2061G>T (p.Trp687Cys) c.564G>T | |
| 10 | g.12107923C>A | CA376012243 | DHTKD1 | c.2062C>A (p.Leu688Ile) c.565C>A | |
| 10 | g.12107923C>G | CA376012281 | DHTKD1 | c.2062C>G (p.Leu688Val) c.565C>G | |
| 10 | g.12107923C>T | CA376012246 | DHTKD1 | c.2062C>T (p.Leu688Phe) c.565C>T | ClinVar dbSNP |
| 10 | g.12107924T>A | CA376012283 | DHTKD1 | c.2063T>A (p.Leu688His) c.566T>A | |
| 10 | g.12107924T>C | CA376012291 | DHTKD1 | c.2063T>C (p.Leu688Pro) c.566T>C | |
| 10 | g.12107924T>G | CA376012287 | DHTKD1 | c.2063T>G (p.Leu688Arg) c.566T>G | |
| 10 | g.12107925C>A | CA468219602 | DHTKD1 | c.2064C>A (p.Leu688=) c.567C>A | |
| 10 | g.12107925C= | CA1890966403 | DHTKD1 | c.2064C= (p.Leu688=) c.567C= | |
| 10 | g.12107925C>G | CA468219604 | DHTKD1 | c.2064C>G (p.Leu688=) c.567C>G | dbSNP gnomAD v4 |
| 10 | g.12107925C>T | CA468219603 | DHTKD1 | c.2064C>T (p.Leu688=) c.567C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107926C>A | CA376012310 | DHTKD1 | c.2065C>A (p.Leu689Ile) c.568C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107926C= | CA1890966408 | DHTKD1 | c.2065C= (p.Leu689=) c.568C= | |
| 10 | g.12107926C>G | CA376012315 | DHTKD1 | c.2065C>G (p.Leu689Val) c.568C>G | |
| 10 | g.12107926C>T | CA468219605 | DHTKD1 | c.2065C>T (p.Leu689=) c.568C>T | dbSNP gnomAD v2 |
| 10 | g.12107927T>A | CA376012319 | DHTKD1 | c.2066T>A (p.Leu689Gln) c.569T>A | |
| 10 | g.12107927T>C | CA202555433 | DHTKD1 | c.2066T>C (p.Leu689Pro) c.569T>C | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107927T>G | CA376012320 | DHTKD1 | c.2066T>G (p.Leu689Arg) c.569T>G | |
| 10 | g.12107927T= | CA1890966412 | DHTKD1 | c.2066T= (p.Leu689=) c.569T= | |
| 10 | g.12107928A>C | CA468219606 | DHTKD1 | c.2067A>C (p.Leu689=) c.570A>C | |
| 10 | g.12107928A>G | CA468219607 | DHTKD1 | c.2067A>G (p.Leu689=) c.570A>G | |
| 10 | g.12107928A>T | CA468219608 | DHTKD1 | c.2067A>T (p.Leu689=) c.570A>T | |
| 10 | g.12107929C>A | CA376012321 | DHTKD1 | c.2068C>A (p.Gln690Lys) c.571C>A | gnomAD v4 |
| 10 | g.12107929C>G | CA376012323 | DHTKD1 | c.2068C>G (p.Gln690Glu) c.571C>G | |
| 10 | g.12107929C>T | CA376012322 | DHTKD1 | c.2068C>T (p.Gln690Ter) c.571C>T | |
| 10 | g.12107930A>C | CA376012324 | DHTKD1 | c.2069A>C (p.Gln690Pro) c.572A>C | |
| 10 | g.12107930A>G | CA376012326 | DHTKD1 | c.2069A>G (p.Gln690Arg) c.572A>G | |
| 10 | g.12107930A>T | CA376012325 | DHTKD1 | c.2069A>T (p.Gln690Leu) c.572A>T | |
| 10 | g.12107931A= | CA1890966415 | DHTKD1 | c.2070A= (p.Gln690=) c.573A= | |
| 10 | g.12107931A>C | CA376012327 | DHTKD1 | c.2070A>C (p.Gln690His) c.573A>C | |
| 10 | g.12107931A>G | CA468219609 | DHTKD1 | c.2070A>G (p.Gln690=) c.573A>G | dbSNP |
| 10 | g.12107931A>T | CA376012328 | DHTKD1 | c.2070A>T (p.Gln690His) c.573A>T | |
| 10 | g.12107932A>C | CA376012329 | DHTKD1 | c.2071A>C (p.Ser691Arg) c.574A>C | |
| 10 | g.12107932A>G | CA376012330 | DHTKD1 | c.2071A>G (p.Ser691Gly) c.574A>G | |
| 10 | g.12107932A>T | CA376012334 | DHTKD1 | c.2071A>T (p.Ser691Cys) c.574A>T | |
| 10 | g.12107933G>A | CA376012343 | DHTKD1 | c.2072G>A (p.Ser691Asn) c.575G>A | |
| 10 | g.12107933G>C | CA376012344 | DHTKD1 | c.2072G>C (p.Ser691Thr) c.575G>C | gnomAD v4 |
| 10 | g.12107933G>T | CA376012346 | DHTKD1 | c.2072G>T (p.Ser691Ile) c.575G>T | |
| 10 | g.12107934del | CA912966579 | DHTKD1 | c.2073del (p.Ser691ArgfsTer23) c.576del | |
| 10 | g.12107934C>A | CA376012355 | DHTKD1 | c.2073C>A (p.Ser691Arg) c.576C>A | |
| 10 | g.12107934C= | CA1890966418 | DHTKD1 | c.2073C= (p.Ser691=) c.576C= | |
| 10 | g.12107934C>G | CA376012349 | DHTKD1 | c.2073C>G (p.Ser691Arg) c.576C>G | |
| 10 | g.12107934C>T | CA5408128 | DHTKD1 | c.2073C>T (p.Ser691=) c.576C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107935G>A | CA376012360 | DHTKD1 | c.2074G>A (p.Gly692Ser) c.577G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107935G>C | CA376012361 | DHTKD1 | c.2074G>C (p.Gly692Arg) c.577G>C | |
| 10 | g.12107935G= | CA1890966421 | DHTKD1 | c.2074G= (p.Gly692=) c.577G= | |
| 10 | g.12107935G>T | CA376012372 | DHTKD1 | c.2074G>T (p.Gly692Cys) c.577G>T | |
| 10 | g.12107936G>A | CA376012375 | DHTKD1 | c.2075G>A (p.Gly692Asp) c.578G>A | gnomAD v4 |
| 10 | g.12107936G>C | CA376012379 | DHTKD1 | c.2075G>C (p.Gly692Ala) c.578G>C | |
| 10 | g.12107936G>T | CA376012391 | DHTKD1 | c.2075G>T (p.Gly692Val) c.578G>T | |
| 10 | g.12107937C>A | CA468219614 | DHTKD1 | c.2076C>A (p.Gly692=) c.579C>A | |
| 10 | g.12107937C>G | CA468219616 | DHTKD1 | c.2076C>G (p.Gly692=) c.579C>G | |
| 10 | g.12107937C>T | CA468219615 | DHTKD1 | c.2076C>T (p.Gly692=) c.579C>T | gnomAD v4 |
| 10 | g.12107938A= | CA1890966424 | DHTKD1 | c.2077A= (p.Ile693=) c.580A= | |
| 10 | g.12107938A>C | CA376012396 | DHTKD1 | c.2077A>C (p.Ile693Leu) c.580A>C | |
| 10 | g.12107938A>G | CA376012414 | DHTKD1 | c.2077A>G (p.Ile693Val) c.580A>G | dbSNP |
| 10 | g.12107938A>T | CA376012408 | DHTKD1 | c.2077A>T (p.Ile693Phe) c.580A>T | |
| 10 | g.12107939T>A | CA376012425 | DHTKD1 | c.2078T>A (p.Ile693Asn) c.581T>A | |
| 10 | g.12107939T>C | CA376012433 | DHTKD1 | c.2078T>C (p.Ile693Thr) c.581T>C | |
| 10 | g.12107939T>G | CA376012438 | DHTKD1 | c.2078T>G (p.Ile693Ser) c.581T>G | |
| 10 | g.12107940C>A | CA468219617 | DHTKD1 | c.2079C>A (p.Ile693=) c.582C>A | dbSNP |
| 10 | g.12107940C= | CA1890966428 | DHTKD1 | c.2079C= (p.Ile693=) c.582C= | |
| 10 | g.12107940C>G | CA376012448 | DHTKD1 | c.2079C>G (p.Ile693Met) c.582C>G | dbSNP |
| 10 | g.12107940C>T | CA5408129 | DHTKD1 | c.2079C>T (p.Ile693=) c.582C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107940_12107941delinsTT | CA2697558256 | DHTKD1 | c.2079_2080delinsTT (p.Val694Phe) c.582_583delinsTT | ClinVar |
| 10 | g.12107940_12107941insT | CA2608250456 | DHTKD1 | c.2079_2080insT (p.Val694CysfsTer28) c.582_583insT | gnomAD v4 |
| 10 | g.12107940_12107941insTT | CA2608250455 | DHTKD1 | c.2079_2080insTT (p.Val694LeufsTer21) c.582_583insTT | gnomAD v4 |
| 10 | g.12107941G>A | CA376012456 | DHTKD1 | c.2080G>A (p.Val694Ile) c.583G>A | |
| 10 | g.12107941G>C | CA376012457 | DHTKD1 | c.2080G>C (p.Val694Leu) c.583G>C | |
| 10 | g.12107941G>T | CA376012458 | DHTKD1 | c.2080G>T (p.Val694Phe) c.583G>T | |
| 10 | g.12107942T>A | CA376012459 | DHTKD1 | c.2081T>A (p.Val694Asp) c.584T>A | |
| 10 | g.12107942T>C | CA376012466 | DHTKD1 | c.2081T>C (p.Val694Ala) c.584T>C | |
| 10 | g.12107942T>G | CA376012469 | DHTKD1 | c.2081T>G (p.Val694Gly) c.584T>G | dbSNP |
| 10 | g.12107943C>A | CA468219618 | DHTKD1 | c.2082C>A (p.Val694=) c.585C>A | |
| 10 | g.12107943C>G | CA468219619 | DHTKD1 | c.2082C>G (p.Val694=) c.585C>G | gnomAD v4 |
| 10 | g.12107943C>T | CA468219620 | DHTKD1 | c.2082C>T (p.Val694=) c.585C>T | |
| 10 | g.12107944A>C | CA376012473 | DHTKD1 | c.2083A>C (p.Ile695Leu) c.586A>C | |
| 10 | g.12107944A>G | CA376012484 | DHTKD1 | c.2083A>G (p.Ile695Val) c.586A>G | |
| 10 | g.12107944A>T | CA376012475 | DHTKD1 | c.2083A>T (p.Ile695Phe) c.586A>T | |
| 10 | g.12107944_12107947delinsATCC | CA1890966432 | DHTKD1 | c.2083_2086delinsATCC (p.Ile695=) c.586_589delinsATCC | |
| 10 | g.12107945T>A | CA376012485 | DHTKD1 | c.2084T>A (p.Ile695Asn) c.587T>A | |
| 10 | g.12107945T>C | CA376012486 | DHTKD1 | c.2084T>C (p.Ile695Thr) c.587T>C | |
| 10 | g.12107945T>G | CA376012487 | DHTKD1 | c.2084T>G (p.Ile695Ser) c.587T>G | gnomAD v4 |
| 10 | g.12107949_12107951del | CA591543208 | DHTKD1 | c.2088_2090del (p.Leu697del) c.591_593del | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12107946C>A | CA468219622 | DHTKD1 | c.2085C>A (p.Ile695=) c.588C>A | |
| 10 | g.12107946C>G | CA376012491 | DHTKD1 | c.2085C>G (p.Ile695Met) c.588C>G | |
| 10 | g.12107946C>T | CA468219621 | DHTKD1 | c.2085C>T (p.Ile695=) c.588C>T | |
| 10 | g.12107947C>A | CA376012504 | DHTKD1 | c.2086C>A (p.Leu696Ile) c.589C>A | |
| 10 | g.12107947C>G | CA376012508 | DHTKD1 | c.2086C>G (p.Leu696Val) c.589C>G | |
| 10 | g.12107947C>T | CA376012511 | DHTKD1 | c.2086C>T (p.Leu696Phe) c.589C>T | gnomAD v4 |
| 10 | g.12107948T>A | CA376012515 | DHTKD1 | c.2087T>A (p.Leu696His) c.590T>A | |
| 10 | g.12107948T>C | CA376012516 | DHTKD1 | c.2087T>C (p.Leu696Pro) c.590T>C | |
| 10 | g.12107948T>G | CA376012517 | DHTKD1 | c.2087T>G (p.Leu696Arg) c.590T>G | |
| 10 | g.12107949C>A | CA468219623 | DHTKD1 | c.2088C>A (p.Leu696=) c.591C>A | |
| 10 | g.12107949C= | CA1890966435 | DHTKD1 | c.2088C= (p.Leu696=) c.591C= | |
| 10 | g.12107949C>G | CA468219624 | DHTKD1 | c.2088C>G (p.Leu696=) c.591C>G | |
| 10 | g.12107949C>T | CA468219625 | DHTKD1 | c.2088C>T (p.Leu696=) c.591C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107950C>A | CA376012518 | DHTKD1 | c.2089C>A (p.Leu697Ile) c.592C>A | |
| 10 | g.12107950C>G | CA376012519 | DHTKD1 | c.2089C>G (p.Leu697Val) c.592C>G | |
| 10 | g.12107950C>T | CA376012521 | DHTKD1 | c.2089C>T (p.Leu697Phe) c.592C>T | |
| 10 | g.12107951T>A | CA376012533 | DHTKD1 | c.2090T>A (p.Leu697His) c.593T>A | |
| 10 | g.12107951T>C | CA376012536 | DHTKD1 | c.2090T>C (p.Leu697Pro) c.593T>C | |
| 10 | g.12107951T>G | CA5408130 | DHTKD1 | c.2090T>G (p.Leu697Arg) c.593T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107951T= | CA1890966438 | DHTKD1 | c.2090T= (p.Leu697=) c.593T= | |
| 10 | g.12107952T>A | CA468219626 | DHTKD1 | c.2091T>A (p.Leu697=) c.594T>A | |
| 10 | g.12107952T>C | CA468219627 | DHTKD1 | c.2091T>C (p.Leu697=) c.594T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107952T>G | CA468219628 | DHTKD1 | c.2091T>G (p.Leu697=) c.594T>G | |
| 10 | g.12107952T= | CA1890966441 | DHTKD1 | c.2091T= (p.Leu697=) c.594T= | |
| 10 | g.12107953C>A | CA376012542 | DHTKD1 | c.2092C>A (p.Pro698Thr) c.595C>A | |
| 10 | g.12107953C>G | CA376012546 | DHTKD1 | c.2092C>G (p.Pro698Ala) c.595C>G | |
| 10 | g.12107953C>T | CA376012552 | DHTKD1 | c.2092C>T (p.Pro698Ser) c.595C>T | |
| 10 | g.12107954C>A | CA376012556 | DHTKD1 | c.2093C>A (p.Pro698Gln) c.596C>A | |
| 10 | g.12107954C>G | CA376012568 | DHTKD1 | c.2093C>G (p.Pro698Arg) c.596C>G | |
| 10 | g.12107954C>T | CA376012570 | DHTKD1 | c.2093C>T (p.Pro698Leu) c.596C>T | |
| 10 | g.12107955A>C | CA468219629 | DHTKD1 | c.2094A>C (p.Pro698=) c.597A>C | |
| 10 | g.12107955A>G | CA468219630 | DHTKD1 | c.2094A>G (p.Pro698=) c.597A>G | |
| 10 | g.12107955A>T | CA468219631 | DHTKD1 | c.2094A>T (p.Pro698=) c.597A>T | |
| 10 | g.12107956del | CA2608250457 | DHTKD1 | c.2095del (p.His699MetfsTer15) c.598del | gnomAD v4 |
| 10 | g.12107956C>A | CA376012571 | DHTKD1 | c.2095C>A (p.His699Asn) c.598C>A | gnomAD v4 |
| 10 | g.12107956C>G | CA376012572 | DHTKD1 | c.2095C>G (p.His699Asp) c.598C>G | ClinVar gnomAD v4 |
| 10 | g.12107956C>T | CA376012578 | DHTKD1 | c.2095C>T (p.His699Tyr) c.598C>T | |
| 10 | g.12107957A= | CA1890966443 | DHTKD1 | c.2096A= (p.His699=) c.599A= | |
| 10 | g.12107957A>C | CA376012580 | DHTKD1 | c.2096A>C (p.His699Pro) c.599A>C | |
| 10 | g.12107957A>G | CA5408131 | DHTKD1 | c.2096A>G (p.His699Arg) c.599A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107957A>T | CA376012579 | DHTKD1 | c.2096A>T (p.His699Leu) c.599A>T | |
| 10 | g.12107958T>A | CA376012584 | DHTKD1 | c.2097T>A (p.His699Gln) c.600T>A | |
| 10 | g.12107958T>C | CA468219632 | DHTKD1 | c.2097T>C (p.His699=) c.600T>C | |
| 10 | g.12107958T>G | CA5408132 | DHTKD1 | c.2097T>G (p.His699Gln) c.600T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107958T= | CA1890966444 | DHTKD1 | c.2097T= (p.His699=) c.600T= | |
| 10 | g.12107959G>A | CA376012598 | DHTKD1 | c.2098G>A (p.Gly700Ser) c.601G>A | |
| 10 | g.12107959G>C | CA376012600 | DHTKD1 | c.2098G>C (p.Gly700Arg) c.601G>C | |
| 10 | g.12107959G>T | CA376012608 | DHTKD1 | c.2098G>T (p.Gly700Cys) c.601G>T | |
| 10 | g.12107960G>A | CA376012611 | DHTKD1 | c.2099G>A (p.Gly700Asp) c.602G>A | |
| 10 | g.12107960G>C | CA376012610 | DHTKD1 | c.2099G>C (p.Gly700Ala) c.602G>C | |
| 10 | g.12107960G>T | CA376012609 | DHTKD1 | c.2099G>T (p.Gly700Val) c.602G>T | gnomAD v4 |
| 10 | g.12107961C>A | CA468219633 | DHTKD1 | c.2100C>A (p.Gly700=) c.603C>A | |
| 10 | g.12107961C= | CA1890966447 | DHTKD1 | c.2100C= (p.Gly700=) c.603C= | |
| 10 | g.12107961C>G | CA202555469 | DHTKD1 | c.2100C>G (p.Gly700=) c.603C>G | dbSNP gnomAD v4 |
| 10 | g.12107961C>T | CA202555474 | DHTKD1 | c.2100C>T (p.Gly700=) c.603C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107962T>A | CA376012614 | DHTKD1 | c.2101T>A (p.Tyr701Asn) c.604T>A | |
| 10 | g.12107962T>C | CA376012616 | DHTKD1 | c.2101T>C (p.Tyr701His) c.604T>C | |
| 10 | g.12107962T>G | CA376012618 | DHTKD1 | c.2101T>G (p.Tyr701Asp) c.604T>G | |
| 10 | g.12107963A= | CA1890966453 | DHTKD1 | c.2102A= (p.Tyr701=) c.605A= | |
| 10 | g.12107963A>C | CA376012620 | DHTKD1 | c.2102A>C (p.Tyr701Ser) c.605A>C | gnomAD v4 |
| 10 | g.12107963A>G | CA202555480 | DHTKD1 | c.2102A>G (p.Tyr701Cys) c.605A>G | dbSNP gnomAD v4 |
| 10 | g.12107963A>T | CA376012627 | DHTKD1 | c.2102A>T (p.Tyr701Phe) c.605A>T | |
| 10 | g.12107963_12107964delinsAC | CA1890966451 | DHTKD1 | c.2102_2103delinsAC (p.Tyr701=) c.605_606delinsAC | |
| 10 | g.12107964del | CA591543236 | DHTKD1 | c.2103del (p.Tyr701Ter) c.606del | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12107964C>A | CA376012629 | DHTKD1 | c.2103C>A (p.Tyr701Ter) c.606C>A | |
| 10 | g.12107964C= | CA1890966460 | DHTKD1 | c.2103C= (p.Tyr701=) c.606C= | |
| 10 | g.12107964C>G | CA376012628 | DHTKD1 | c.2103C>G (p.Tyr701Ter) c.606C>G | |
| 10 | g.12107964C>T | CA5408133 | DHTKD1 | c.2103C>T (p.Tyr701=) c.606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107965G>A | CA5408134 | DHTKD1 | c.2104G>A (p.Asp702Asn) c.607G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107965G>C | CA376012638 | DHTKD1 | c.2104G>C (p.Asp702His) c.607G>C | |
| 10 | g.12107965G= | CA1890966464 | DHTKD1 | c.2104G= (p.Asp702=) c.607G= | |
| 10 | g.12107965G>T | CA376012639 | DHTKD1 | c.2104G>T (p.Asp702Tyr) c.607G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107966A= | CA1890966469 | DHTKD1 | c.2105A= (p.Asp702=) c.608A= | |
| 10 | g.12107966A>C | CA376012643 | DHTKD1 | c.2105A>C (p.Asp702Ala) c.608A>C | |
| 10 | g.12107966A>G | CA376012648 | DHTKD1 | c.2105A>G (p.Asp702Gly) c.608A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12107966A>T | CA376012651 | DHTKD1 | c.2105A>T (p.Asp702Val) c.608A>T | |
| 10 | g.12107967T>A | CA376012658 | DHTKD1 | c.2106T>A (p.Asp702Glu) c.609T>A | |
| 10 | g.12107967T>C | CA5408136 | DHTKD1 | c.2106T>C (p.Asp702=) c.609T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107967T>G | CA5408135 | DHTKD1 | c.2106T>G (p.Asp702Glu) c.609T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107967T= | CA1890966471 | DHTKD1 | c.2106T= (p.Asp702=) c.609T= | |
| 10 | g.12107968G>A | CA202555535 | DHTKD1 | c.2107G>A (p.Gly703Arg) c.610G>A | dbSNP |
| 10 | g.12107968G>C | CA376012667 | DHTKD1 | c.2107G>C (p.Gly703Arg) c.610G>C | |
| 10 | g.12107968G= | CA1890966473 | DHTKD1 | c.2107G= (p.Gly703=) c.610G= | |
| 10 | g.12107968G>T | CA376012668 | DHTKD1 | c.2107G>T (p.Gly703Trp) c.610G>T | |
| 10 | g.12107969G>A | CA376012672 | DHTKD1 | c.2108G>A (p.Gly703Glu) c.611G>A | |
| 10 | g.12107969G>C | CA376012677 | DHTKD1 | c.2108G>C (p.Gly703Ala) c.611G>C | |
| 10 | g.12107969G>T | CA376012676 | DHTKD1 | c.2108G>T (p.Gly703Val) c.611G>T | |
| 10 | g.12107973_12107977del | CA2608250458 | DHTKD1 | c.2112_2116del (p.Gly705ArgfsTer15) c.615_619del | gnomAD v4 |
| 10 | g.12107970G>A | CA468219634 | DHTKD1 | c.2109G>A (p.Gly703=) c.612G>A | |
| 10 | g.12107970G>C | CA468219635 | DHTKD1 | c.2109G>C (p.Gly703=) c.612G>C | gnomAD v4 |
| 10 | g.12107970G>T | CA468219636 | DHTKD1 | c.2109G>T (p.Gly703=) c.612G>T | |
| 10 | g.12107971G>A | CA376012691 | DHTKD1 | c.2110G>A (p.Ala704Thr) c.613G>A | |
| 10 | g.12107971G>C | CA376012693 | DHTKD1 | c.2110G>C (p.Ala704Pro) c.613G>C | |
| 10 | g.12107971G= | CA1890966475 | DHTKD1 | c.2110G= (p.Ala704=) c.613G= | |
| 10 | g.12107971G>T | CA376012696 | DHTKD1 | c.2110G>T (p.Ala704Ser) c.613G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12107972del | CA2608250459 | DHTKD1 | c.2111del (p.Ala704ValfsTer10) c.614del | gnomAD v4 |
| 10 | g.12107972C>A | CA376012702 | DHTKD1 | c.2111C>A (p.Ala704Asp) c.614C>A | |
| 10 | g.12107972C= | CA1890966478 | DHTKD1 | c.2111C= (p.Ala704=) c.614C= | |
| 10 | g.12107972C>G | CA376012705 | DHTKD1 | c.2111C>G (p.Ala704Gly) c.614C>G | |
| 10 | g.12107972C>T | CA376012710 | DHTKD1 | c.2111C>T (p.Ala704Val) c.614C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107973T>A | CA468219637 | DHTKD1 | c.2112T>A (p.Ala704=) c.615T>A | |
| 10 | g.12107973T>C | CA468219638 | DHTKD1 | c.2112T>C (p.Ala704=) c.615T>C | |
| 10 | g.12107973T>G | CA468219639 | DHTKD1 | c.2112T>G (p.Ala704=) c.615T>G | |
| 10 | g.12107974G>A | CA5408137 | DHTKD1 | c.2113G>A (p.Gly705Arg) c.616G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107974G>C | CA376012718 | DHTKD1 | c.2113G>C (p.Gly705Arg) c.616G>C | |
| 10 | g.12107974G= | CA1890966480 | DHTKD1 | c.2113G= (p.Gly705=) c.616G= | |
| 10 | g.12107974G>T | CA376012719 | DHTKD1 | c.2113G>T (p.Gly705Trp) c.616G>T | |
| 10 | g.12107975G>A | CA5408138 | DHTKD1 | c.2114G>A (p.Gly705Glu) c.617G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107975G>C | CA376012721 | DHTKD1 | c.2114G>C (p.Gly705Ala) c.617G>C | |
| 10 | g.12107975G= | CA1890966482 | DHTKD1 | c.2114G= (p.Gly705=) c.617G= | |
| 10 | g.12107975G>T | CA376012724 | DHTKD1 | c.2114G>T (p.Gly705Val) c.617G>T | |
| 10 | g.12107976G>A | CA468219640 | DHTKD1 | c.2115G>A (p.Gly705=) c.618G>A | |
| 10 | g.12107976G>C | CA468219641 | DHTKD1 | c.2115G>C (p.Gly705=) c.618G>C | |
| 10 | g.12107976G>T | CA468219642 | DHTKD1 | c.2115G>T (p.Gly705=) c.618G>T | |
| 10 | g.12107977C>A | CA376012739 | DHTKD1 | c.2116C>A (p.Pro706Thr) c.619C>A | |
| 10 | g.12107977C= | CA1890966484 | DHTKD1 | c.2116C= (p.Pro706=) c.619C= | |
| 10 | g.12107977C>G | CA376012726 | DHTKD1 | c.2116C>G (p.Pro706Ala) c.619C>G | |
| 10 | g.12107977C>T | CA5408139 | DHTKD1 | c.2116C>T (p.Pro706Ser) c.619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107978C>A | CA376012742 | DHTKD1 | c.2117C>A (p.Pro706Gln) c.620C>A | |
| 10 | g.12107978C>G | CA376012743 | DHTKD1 | c.2117C>G (p.Pro706Arg) c.620C>G | |
| 10 | g.12107978C>T | CA376012744 | DHTKD1 | c.2117C>T (p.Pro706Leu) c.620C>T | |
| 10 | g.12107979A>C | CA468219643 | DHTKD1 | c.2118A>C (p.Pro706=) c.621A>C | gnomAD v4 |
| 10 | g.12107979A>G | CA468219645 | DHTKD1 | c.2118A>G (p.Pro706=) c.621A>G | |
| 10 | g.12107979A>T | CA468219644 | DHTKD1 | c.2118A>T (p.Pro706=) c.621A>T | |
| 10 | g.12107980G>A | CA376012745 | DHTKD1 | c.2119G>A (p.Asp707Asn) c.622G>A | gnomAD v4 |
| 10 | g.12107980G>C | CA376012746 | DHTKD1 | c.2119G>C (p.Asp707His) c.622G>C | gnomAD v4 |
| 10 | g.12107980G= | CA1890966487 | DHTKD1 | c.2119G= (p.Asp707=) c.622G= | |
| 10 | g.12107980G>T | CA376012747 | DHTKD1 | c.2119G>T (p.Asp707Tyr) c.622G>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107981A>C | CA376012752 | DHTKD1 | c.2120A>C (p.Asp707Ala) c.623A>C | gnomAD v4 |
| 10 | g.12107981A>G | CA376012760 | DHTKD1 | c.2120A>G (p.Asp707Gly) c.623A>G | |
| 10 | g.12107981A>T | CA376012771 | DHTKD1 | c.2120A>T (p.Asp707Val) c.623A>T | |
| 10 | g.12107982C>A | CA5408140 | DHTKD1 | c.2121C>A (p.Asp707Glu) c.624C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107982C= | CA1890966491 | DHTKD1 | c.2121C= (p.Asp707=) c.624C= | |
| 10 | g.12107982C>G | CA376012776 | DHTKD1 | c.2121C>G (p.Asp707Glu) c.624C>G | |
| 10 | g.12107982C>T | CA468219646 | DHTKD1 | c.2121C>T (p.Asp707=) c.624C>T | |
| 10 | g.12107983C>A | CA376012783 | DHTKD1 | c.2122C>A (p.His708Asn) c.625C>A | |
| 10 | g.12107983C>G | CA376012786 | DHTKD1 | c.2122C>G (p.His708Asp) c.625C>G | |
| 10 | g.12107983C>T | CA376012778 | DHTKD1 | c.2122C>T (p.His708Tyr) c.625C>T | |
| 10 | g.12107984A= | CA1890966495 | DHTKD1 | c.2123A= (p.His708=) c.626A= | |
| 10 | g.12107984A>C | CA376012791 | DHTKD1 | c.2123A>C (p.His708Pro) c.626A>C | |
| 10 | g.12107984A>G | CA376012788 | DHTKD1 | c.2123A>G (p.His708Arg) c.626A>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.12107984A>T | CA376012797 | DHTKD1 | c.2123A>T (p.His708Leu) c.626A>T | |
| 10 | g.12107985C>A | CA376012798 | DHTKD1 | c.2124C>A (p.His708Gln) c.627C>A | |
| 10 | g.12107985C= | CA1890966497 | DHTKD1 | c.2124C= (p.His708=) c.627C= | |
| 10 | g.12107985C>G | CA376012799 | DHTKD1 | c.2124C>G (p.His708Gln) c.627C>G | |
| 10 | g.12107985C>T | CA5408141 | DHTKD1 | c.2124C>T (p.His708=) c.627C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107986T>A | CA376012800 | DHTKD1 | c.2125T>A (p.Ser709Thr) c.628T>A | |
| 10 | g.12107986T>C | CA376012802 | DHTKD1 | c.2125T>C (p.Ser709Pro) c.628T>C | |
| 10 | g.12107986T>G | CA376012804 | DHTKD1 | c.2125T>G (p.Ser709Ala) c.628T>G | COSMIC |
| 10 | g.12107987C>A | CA376012805 | DHTKD1 | c.2126C>A (p.Ser709Ter) c.629C>A | |
| 10 | g.12107987C>G | CA376012807 | DHTKD1 | c.2126C>G (p.Ser709Ter) c.629C>G | |
| 10 | g.12107987C>T | CA376012808 | DHTKD1 | c.2126C>T (p.Ser709Leu) c.629C>T | |
| 10 | g.12107988A>C | CA468219647 | DHTKD1 | c.2127A>C (p.Ser709=) c.630A>C | gnomAD v4 |
| 10 | g.12107988A>G | CA468219648 | DHTKD1 | c.2127A>G (p.Ser709=) c.630A>G | |
| 10 | g.12107988A>T | CA468219649 | DHTKD1 | c.2127A>T (p.Ser709=) c.630A>T | |
| 10 | g.12107989del | CA2608250460 | DHTKD1 | c.2128del (p.Ser710ProfsTer4) c.631del | gnomAD v4 |
| 10 | g.12107989T>A | CA376012813 | DHTKD1 | c.2128T>A (p.Ser710Thr) c.631T>A | |
| 10 | g.12107989T>C | CA376012820 | DHTKD1 | c.2128T>C (p.Ser710Pro) c.631T>C | |
| 10 | g.12107989T>G | CA376012826 | DHTKD1 | c.2128T>G (p.Ser710Ala) c.631T>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.12107989T= | CA1890966500 | DHTKD1 | c.2128T= (p.Ser710=) c.631T= | |
| 10 | g.12107990C>A | CA376012830 | DHTKD1 | c.2129C>A (p.Ser710Tyr) c.632C>A | |
| 10 | g.12107990C= | CA1890966504 | DHTKD1 | c.2129C= (p.Ser710=) c.632C= | |
| 10 | g.12107990C>G | CA376012828 | DHTKD1 | c.2129C>G (p.Ser710Cys) c.632C>G | |
| 10 | g.12107990C>T | CA5408142 | DHTKD1 | c.2129C>T (p.Ser710Phe) c.632C>T | dbSNP ExAC gnomAD v2 |
| 10 | g.12107991C>A | CA202555561 | DHTKD1 | c.2130C>A (p.Ser710=) c.633C>A | dbSNP |
| 10 | g.12107991C= | CA1890966507 | DHTKD1 | c.2130C= (p.Ser710=) c.633C= | |
| 10 | g.12107991C>G | CA468219650 | DHTKD1 | c.2130C>G (p.Ser710=) c.633C>G | |
| 10 | g.12107991C>T | CA468219651 | DHTKD1 | c.2130C>T (p.Ser710=) c.633C>T | |
| 10 | g.12107992T>A | CA376012831 | DHTKD1 | c.2131T>A (p.Cys711Ser) c.634T>A | |
| 10 | g.12107992T>C | CA376012835 | DHTKD1 | c.2131T>C (p.Cys711Arg) c.634T>C | |
| 10 | g.12107992T>G | CA376012837 | DHTKD1 | c.2131T>G (p.Cys711Gly) c.634T>G | |
| 10 | g.12107993G>A | CA376012841 | DHTKD1 | c.2132G>A (p.Cys711Tyr) c.635G>A | |
| 10 | g.12107993G>C | CA376012844 | DHTKD1 | c.2132G>C (p.Cys711Ser) c.635G>C | |
| 10 | g.12107993G>T | CA376012846 | DHTKD1 | c.2132G>T (p.Cys711Phe) c.635G>T | |
| 10 | g.12107994T>A | CA376012849 | DHTKD1 | c.2133T>A (p.Cys711Ter) c.636T>A | |
| 10 | g.12107994T>C | CA468219652 | DHTKD1 | c.2133T>C (p.Cys711=) c.636T>C | |
| 10 | g.12107994T>G | CA376012851 | DHTKD1 | c.2133T>G (p.Cys711Trp) c.636T>G | |
| 10 | g.12107995C>A | CA468219653 | DHTKD1 | c.2134C>A (p.Arg712=) c.637C>A | |
| 10 | g.12107995C= | CA1890966510 | DHTKD1 | c.2134C= (p.Arg712=) c.637C= | |
| 10 | g.12107995C>G | CA376012854 | DHTKD1 | c.2134C>G (p.Arg712Gly) c.637C>G | |
| 10 | g.12107995C>T | CA5408143 | DHTKD1 | c.2134C>T (p.Arg712Ter) c.637C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107996G>A | CA5408144 | DHTKD1 | c.2135G>A (p.Arg712Gln) c.638G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12107996G>C | CA376012858 | DHTKD1 | c.2135G>C (p.Arg712Pro) c.638G>C | gnomAD v4 |
| 10 | g.12107996G= | CA1890966515 | DHTKD1 | c.2135G= (p.Arg712=) c.638G= | |
| 10 | g.12107996G>T | CA376012857 | DHTKD1 | c.2135G>T (p.Arg712Leu) c.638G>T | gnomAD v4 |
| 10 | g.12107997A= | CA1890966518 | DHTKD1 | c.2136A= (p.Arg712=) c.639A= | |
| 10 | g.12107997A>C | CA468219654 | DHTKD1 | c.2136A>C (p.Arg712=) c.639A>C | |
| 10 | g.12107997A>G | CA468219655 | DHTKD1 | c.2136A>G (p.Arg712=) c.639A>G | gnomAD v4 |
| 10 | g.12107997A>T | CA5408145 | DHTKD1 | c.2136A>T (p.Arg712=) c.639A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.12107998A= | CA1890966522 | DHTKD1 | c.2137A= (p.Ile713=) c.640A= | |
| 10 | g.12107998A>C | CA376012859 | DHTKD1 | c.2137A>C (p.Ile713Leu) c.640A>C | |
| 10 | g.12107998A>G | CA376012861 | DHTKD1 | c.2137A>G (p.Ile713Val) c.640A>G | |
| 10 | g.12107998A>T | CA202555591 | DHTKD1 | c.2137A>T (p.Ile713Leu) c.640A>T | dbSNP |
| 10 | g.12107999T>A | CA376012864 | DHTKD1 | c.2138T>A (p.Ile713Lys) c.641T>A | |
| 10 | g.12107999T>C | CA5408146 | DHTKD1 | c.2138T>C (p.Ile713Thr) c.641T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12107999T>G | CA376012866 | DHTKD1 | c.2138T>G (p.Ile713Arg) c.641T>G | |
| 10 | g.12107999T= | CA1890966524 | DHTKD1 | c.2138T= (p.Ile713=) c.641T= | |
| 10 | g.12108000A>C | CA468219657 | DHTKD1 | c.2139A>C (p.Ile713=) c.642A>C | |
| 10 | g.12108000A>G | CA376012867 | DHTKD1 | c.2139A>G (p.Ile713Met) c.642A>G | gnomAD v4 |
| 10 | g.12108000A>T | CA468219656 | DHTKD1 | c.2139A>T (p.Ile713=) c.642A>T | |
| 10 | g.12108001G>A | CA376012868 | DHTKD1 | c.2140G>A (p.Glu714Lys) c.643G>A | |
| 10 | g.12108001G>C | CA376012874 | DHTKD1 | c.2140G>C (p.Glu714Gln) c.643G>C | ClinVar dbSNP |
| 10 | g.12108001G= | CA1890966527 | DHTKD1 | c.2140G= (p.Glu714=) c.643G= | |
| 10 | g.12108001G>T | CA376012875 | DHTKD1 | c.2140G>T (p.Glu714Ter) c.643G>T | |
| 10 | g.12108002A>C | CA376012877 | DHTKD1 | c.2141A>C (p.Glu714Ala) c.644A>C | |
| 10 | g.12108002A>G | CA376012881 | DHTKD1 | c.2141A>G (p.Glu714Gly) c.644A>G | |
| 10 | g.12108002A>T | CA376012883 | DHTKD1 | c.2141A>T (p.Glu714Val) c.644A>T | |
| 10 | g.12108003G>A | CA468219658 | DHTKD1 | c.2142G>A (p.Glu714=) c.645G>A | dbSNP |
| 10 | g.12108003G>C | CA376012886 | DHTKD1 | c.2142G>C (p.Glu714Asp) c.645G>C | |
| 10 | g.12108003G= | CA1890966529 | DHTKD1 | c.2142G= (p.Glu714=) c.645G= | |
| 10 | g.12108003G>T | CA376012887 | DHTKD1 | c.2142G>T (p.Glu714Asp) c.645G>T | dbSNP gnomAD v4 |
| 10 | g.12108004C>A | CA376012890 | DHTKD1 | c.2143C>A (p.Arg715Ser) c.646C>A | |
| 10 | g.12108004C= | CA1890966533 | DHTKD1 | c.2143C= (p.Arg715=) c.646C= | |
| 10 | g.12108004C>G | CA376012893 | DHTKD1 | c.2143C>G (p.Arg715Gly) c.646C>G | |
| 10 | g.12108004C>T | CA351314 | DHTKD1 | c.2143C>T (p.Arg715Cys) c.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.12108005G>A | CA5408147 | DHTKD1 | c.2144G>A (p.Arg715His) c.647G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.12108005G>C | CA376012899 | DHTKD1 | c.2144G>C (p.Arg715Pro) c.647G>C | |
| 10 | g.12108005G= | CA1890966539 | DHTKD1 | c.2144G= (p.Arg715=) c.647G= | |
| 10 | g.12108005G>T | CA376012901 | DHTKD1 | c.2144G>T (p.Arg715Leu) c.647G>T | |
| 10 | g.12108005_12108006delinsGT | CA1890966541 | DHTKD1 | c.2144_2145delinsGT (p.Arg715=) c.647_648delinsGT | |
| 10 | g.12108006T>A | CA468219659 | DHTKD1 | c.2145T>A (p.Arg715=) c.648T>A | gnomAD v4 |
| 10 | g.12108006T>C | CA468219661 | DHTKD1 | c.2145T>C (p.Arg715=) c.648T>C | gnomAD v4 |
| 10 | g.12108006T>G | CA468219660 | DHTKD1 | c.2145T>G (p.Arg715=) c.648T>G | |
| 10 | g.12108008del | CA1890966543 | DHTKD1 | c.2147del (p.Phe716SerfsTer17) c.650del | dbSNP |
| 10 | g.12108007T>A | CA376012903 | DHTKD1 | c.2146T>A (p.Phe716Ile) c.649T>A | |
| 10 | g.12108007T>C | CA376012908 | DHTKD1 | c.2146T>C (p.Phe716Leu) c.649T>C | |
| 10 | g.12108007T>G | CA376012912 | DHTKD1 | c.2146T>G (p.Phe716Val) c.649T>G | |
| 10 | g.12108008T>A | CA376012923 | DHTKD1 | c.2147T>A (p.Phe716Tyr) c.650T>A | |
| 10 | g.12108008T>C | CA376012925 | DHTKD1 | c.2147T>C (p.Phe716Ser) c.650T>C | |
| 10 | g.12108008T>G | CA376012927 | DHTKD1 | c.2147T>G (p.Phe716Cys) c.650T>G |