Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.12112831G>A | CA660768040 | DHTKD1 | c.2155-69G>A (n.2155-69G>A) c.658-69G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112831G= | CA1890970402 | DHTKD1 | c.2155-69G= (n.2155-69G=) c.658-69G= | |
10 | g.12112831G>T | CA2608250652 | DHTKD1 | c.2155-69G>T (n.2155-69G>T) c.658-69G>T | gnomAD v4 |
10 | g.12112832C>A | CA2608250654 | DHTKD1 | c.2155-68C>A (n.2155-68C>A) c.658-68C>A | gnomAD v4 |
10 | g.12112832C>T | CA2608250653 | DHTKD1 | c.2155-68C>T (n.2155-68C>T) c.658-68C>T | gnomAD v4 |
10 | g.12112833C>A | CA2608250655 | DHTKD1 | c.2155-67C>A (n.2155-67C>A) c.658-67C>A | gnomAD v4 |
10 | g.12112833C>G | CA2608250656 | DHTKD1 | c.2155-67C>G (n.2155-67C>G) c.658-67C>G | gnomAD v4 |
10 | g.12112834C>A | CA2580916078 | DHTKD1 | c.2155-66C>A (n.2155-66C>A) c.658-66C>A | gnomAD v4 |
10 | g.12112834C= | CA1890970404 | DHTKD1 | c.2155-66C= (n.2155-66C=) c.658-66C= | |
10 | g.12112834C>G | CA2580916079 | DHTKD1 | c.2155-66C>G (n.2155-66C>G) c.658-66C>G | |
10 | g.12112834C>T | CA13237206 | DHTKD1 | c.2155-66C>T (n.2155-66C>T) c.658-66C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112835A= | CA1890970406 | DHTKD1 | c.2155-65A= (n.2155-65A=) c.658-65A= | |
10 | g.12112835A>G | CA1890970407 | DHTKD1 | c.2155-65A>G (n.2155-65A>G) c.658-65A>G | dbSNP gnomAD v4 |
10 | g.12112835A>T | CA2608250659 | DHTKD1 | c.2155-65A>T (n.2155-65A>T) c.658-65A>T | gnomAD v4 |
10 | g.12112836T>C | CA1890970411 | DHTKD1 | c.2155-64T>C (n.2155-64T>C) c.658-64T>C | dbSNP |
10 | g.12112836T= | CA1890970409 | DHTKD1 | c.2155-64T= (n.2155-64T=) c.658-64T= | |
10 | g.12112838G= | CA1890970414 | DHTKD1 | c.2155-62G= (n.2155-62G=) c.658-62G= | |
10 | g.12112838G>T | CA924991631 | DHTKD1 | c.2155-62G>T (n.2155-62G>T) c.658-62G>T | dbSNP gnomAD v4 |
10 | g.12112839T>C | CA2608250660 | DHTKD1 | c.2155-61T>C (n.2155-61T>C) c.658-61T>C | gnomAD v4 |
10 | g.12112840C>A | CA2608250661 | DHTKD1 | c.2155-60C>A (n.2155-60C>A) c.658-60C>A | gnomAD v4 |
10 | g.12112841A>C | CA2574503526 | DHTKD1 | c.2155-59A>C (n.2155-59A>C) c.658-59A>C | gnomAD v4 |
10 | g.12112841A>G | CA2608250662 | DHTKD1 | c.2155-59A>G (n.2155-59A>G) c.658-59A>G | gnomAD v4 |
10 | g.12112842C>A | CA2608250664 | DHTKD1 | c.2155-58C>A (n.2155-58C>A) c.658-58C>A | gnomAD v4 |
10 | g.12112842C= | CA1890970416 | DHTKD1 | c.2155-58C= (n.2155-58C=) c.658-58C= | |
10 | g.12112842C>G | CA1890970417 | DHTKD1 | c.2155-58C>G (n.2155-58C>G) c.658-58C>G | dbSNP gnomAD v4 |
10 | g.12112843T>C | CA2608250665 | DHTKD1 | c.2155-57T>C (n.2155-57T>C) c.658-57T>C | gnomAD v4 |
10 | g.12112844A>C | CA2608250666 | DHTKD1 | c.2155-56A>C (n.2155-56A>C) c.658-56A>C | gnomAD v4 |
10 | g.12112844A>G | CA2608250667 | DHTKD1 | c.2155-56A>G (n.2155-56A>G) c.658-56A>G | gnomAD v4 |
10 | g.12112845C>A | CA2574503527 | DHTKD1 | c.2155-55C>A (n.2155-55C>A) c.658-55C>A | gnomAD v4 |
10 | g.12112845C= | CA1890970419 | DHTKD1 | c.2155-55C= (n.2155-55C=) c.658-55C= | |
10 | g.12112845C>T | CA202559860 | DHTKD1 | c.2155-55C>T (n.2155-55C>T) c.658-55C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112846G>A | CA591844714 | DHTKD1 | c.2155-54G>A (n.2155-54G>A) c.658-54G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112846G= | CA1890970420 | DHTKD1 | c.2155-54G= (n.2155-54G=) c.658-54G= | |
10 | g.12112846G>T | CA2608250669 | DHTKD1 | c.2155-54G>T (n.2155-54G>T) c.658-54G>T | gnomAD v4 |
10 | g.12112847del | CA2608250670 | DHTKD1 | c.2155-53del (n.2155-53del) c.658-53del | gnomAD v4 |
10 | g.12112848C>A | CA2608250672 | DHTKD1 | c.2155-52C>A (n.2155-52C>A) c.658-52C>A | gnomAD v4 |
10 | g.12112851A>G | CA2608250673 | DHTKD1 | c.2155-49A>G (n.2155-49A>G) c.658-49A>G | gnomAD v4 |
10 | g.12112852A>G | CA2608250674 | DHTKD1 | c.2155-48A>G (n.2155-48A>G) c.658-48A>G | gnomAD v4 |
10 | g.12112853A>C | CA2608250675 | DHTKD1 | c.2155-47A>C (n.2155-47A>C) c.658-47A>C | gnomAD v4 |
10 | g.12112853A>G | CA2608250676 | DHTKD1 | c.2155-47A>G (n.2155-47A>G) c.658-47A>G | gnomAD v4 |
10 | g.12112854T>C | CA2574503528 | DHTKD1 | c.2155-46T>C (n.2155-46T>C) c.658-46T>C | gnomAD v4 |
10 | g.12112854T>G | CA2574503529 | DHTKD1 | c.2155-46T>G (n.2155-46T>G) c.658-46T>G | gnomAD v4 |
10 | g.12112855A= | CA1890970423 | DHTKD1 | c.2155-45A= (n.2155-45A=) c.658-45A= | |
10 | g.12112855A>G | CA2608250677 | DHTKD1 | c.2155-45A>G (n.2155-45A>G) c.658-45A>G | gnomAD v4 |
10 | g.12112855A>T | CA591844715 | DHTKD1 | c.2155-45A>T (n.2155-45A>T) c.658-45A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112856G>A | CA5408159 | DHTKD1 | c.2155-44G>A (n.2155-44G>A) c.658-44G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112856G>C | CA2608250679 | DHTKD1 | c.2155-44G>C (n.2155-44G>C) c.658-44G>C | gnomAD v4 |
10 | g.12112856G= | CA1890970425 | DHTKD1 | c.2155-44G= (n.2155-44G=) c.658-44G= | |
10 | g.12112857A>G | CA2608250680 | DHTKD1 | c.2155-43A>G (n.2155-43A>G) c.658-43A>G | gnomAD v4 |
10 | g.12112858del | CA2608250681 | DHTKD1 | c.2155-42del (n.2155-42del) c.658-42del | gnomAD v4 |
10 | g.12112859G>T | CA2608250682 | DHTKD1 | c.2155-41G>T (n.2155-41G>T) c.658-41G>T | gnomAD v4 |
10 | g.12112862C>A | CA2608250684 | DHTKD1 | c.2155-38C>A (n.2155-38C>A) c.658-38C>A | gnomAD v4 |
10 | g.12112862C= | CA1890970428 | DHTKD1 | c.2155-38C= (n.2155-38C=) c.658-38C= | |
10 | g.12112862C>G | CA591844716 | DHTKD1 | c.2155-38C>G (n.2155-38C>G) c.658-38C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112862C>T | CA5408160 | DHTKD1 | c.2155-38C>T (n.2155-38C>T) c.658-38C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.12112863T>G | CA2608250685 | DHTKD1 | c.2155-37T>G (n.2155-37T>G) c.658-37T>G | gnomAD v4 |
10 | g.12112864G>A | CA5408161 | DHTKD1 | c.2155-36G>A (n.2155-36G>A) c.658-36G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112864G= | CA1890970430 | DHTKD1 | c.2155-36G= (n.2155-36G=) c.658-36G= | |
10 | g.12112864G>T | CA2608250686 | DHTKD1 | c.2155-36G>T (n.2155-36G>T) c.658-36G>T | gnomAD v4 |
10 | g.12112866A>G | CA2786660579 | DHTKD1 | c.2155-34A>G (n.2155-34A>G) c.658-34A>G | |
10 | g.12112867C>A | CA2608250687 | DHTKD1 | c.2155-33C>A (n.2155-33C>A) c.658-33C>A | gnomAD v4 |
10 | g.12112867C= | CA1890970432 | DHTKD1 | c.2155-33C= (n.2155-33C=) c.658-33C= | |
10 | g.12112867C>T | CA591844717 | DHTKD1 | c.2155-33C>T (n.2155-33C>T) c.658-33C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112868A= | CA1890970434 | DHTKD1 | c.2155-32A= (n.2155-32A=) c.658-32A= | |
10 | g.12112868A>C | CA2608250688 | DHTKD1 | c.2155-32A>C (n.2155-32A>C) c.658-32A>C | gnomAD v4 |
10 | g.12112868A>T | CA5408162 | DHTKD1 | c.2155-32A>T (n.2155-32A>T) c.658-32A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.12112873_12112875del | CA2574503530 | DHTKD1 | c.2155-27_2155-25del (n.2155-27_2155-25del) c.658-27_658-25del | gnomAD v4 |
10 | g.12112870T>C | CA2608250689 | DHTKD1 | c.2155-30T>C (n.2155-30T>C) c.658-30T>C | gnomAD v4 |
10 | g.12112871C>A | CA2608250691 | DHTKD1 | c.2155-29C>A (n.2155-29C>A) c.658-29C>A | gnomAD v4 |
10 | g.12112872T>C | CA5408163 | DHTKD1 | c.2155-28T>C (n.2155-28T>C) c.658-28T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112872T= | CA1890970436 | DHTKD1 | c.2155-28T= (n.2155-28T=) c.658-28T= | |
10 | g.12112873T>C | CA591844718 | DHTKD1 | c.2155-27T>C (n.2155-27T>C) c.658-27T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112873T= | CA1890970440 | DHTKD1 | c.2155-27T= (n.2155-27T=) c.658-27T= | |
10 | g.12112876_12112878del | CA2574503531 | DHTKD1 | c.2155-24_2155-22del (n.2155-24_2155-22del) c.658-24_658-22del | gnomAD v4 |
10 | g.12112878T>A | CA1890970442 | DHTKD1 | c.2155-22T>A (n.2155-22T>A) c.658-22T>A | dbSNP |
10 | g.12112878T>C | CA202559899 | DHTKD1 | c.2155-22T>C (n.2155-22T>C) c.658-22T>C | dbSNP |
10 | g.12112878T= | CA1890970444 | DHTKD1 | c.2155-22T= (n.2155-22T=) c.658-22T= | |
10 | g.12112880T>C | CA2608250692 | DHTKD1 | c.2155-20T>C (n.2155-20T>C) c.658-20T>C | gnomAD v4 |
10 | g.12112881C>T | CA2608250693 | DHTKD1 | c.2155-19C>T (n.2155-19C>T) c.658-19C>T | gnomAD v4 |
10 | g.12112884G>A | CA2608250694 | DHTKD1 | c.2155-16G>A (n.2155-16G>A) c.658-16G>A | gnomAD v4 |
10 | g.12112885C>A | CA2608250695 | DHTKD1 | c.2155-15C>A (n.2155-15C>A) c.658-15C>A | gnomAD v4 |
10 | g.12112885C= | CA1890970450 | DHTKD1 | c.2155-15C= (n.2155-15C=) c.658-15C= | |
10 | g.12112885C>G | CA2608250696 | DHTKD1 | c.2155-15C>G (n.2155-15C>G) c.658-15C>G | gnomAD v4 |
10 | g.12112885C>T | CA591844719 | DHTKD1 | c.2155-15C>T (n.2155-15C>T) c.658-15C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112886C>T | CA2507291363 | DHTKD1 | c.2155-14C>T (n.2155-14C>T) c.658-14C>T | ClinVar gnomAD v4 |
10 | g.12112887A= | CA1890970456 | DHTKD1 | c.2155-13A= (n.2155-13A=) c.658-13A= | |
10 | g.12112887A>C | CA2608250699 | DHTKD1 | c.2155-13A>C (n.2155-13A>C) c.658-13A>C | gnomAD v4 |
10 | g.12112887A>G | CA202559901 | DHTKD1 | c.2155-13A>G (n.2155-13A>G) c.658-13A>G | dbSNP |
10 | g.12112887A>T | CA5408164 | DHTKD1 | c.2155-13A>T (n.2155-13A>T) c.658-13A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112888C>A | CA2608250701 | DHTKD1 | c.2155-12C>A (n.2155-12C>A) c.658-12C>A | gnomAD v4 |
10 | g.12112888C>T | CA2608250700 | DHTKD1 | c.2155-12C>T (n.2155-12C>T) c.658-12C>T | gnomAD v4 |
10 | g.12112890T>C | CA2608250702 | DHTKD1 | c.2155-10T>C (n.2155-10T>C) c.658-10T>C | gnomAD v4 |
10 | g.12112891C>A | CA924991637 | DHTKD1 | c.2155-9C>A (n.2155-9C>A) c.658-9C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112891C= | CA1890970459 | DHTKD1 | c.2155-9C= (n.2155-9C=) c.658-9C= | |
10 | g.12112891C>T | CA2608250703 | DHTKD1 | c.2155-9C>T (n.2155-9C>T) c.658-9C>T | gnomAD v4 |
10 | g.12112893C>G | CA2608250704 | DHTKD1 | c.2155-7C>G (n.2155-7C>G) c.658-7C>G | gnomAD v4 |
10 | g.12112894T>C | CA2608250706 | DHTKD1 | c.2155-6T>C (n.2155-6T>C) c.658-6T>C | gnomAD v4 |
10 | g.12112895C>A | CA2526582289 | DHTKD1 | c.2155-5C>A (n.2155-5C>A) c.658-5C>A | gnomAD v4 |
10 | g.12112895C= | CA1890970460 | DHTKD1 | c.2155-5C= (n.2155-5C=) c.658-5C= | |
10 | g.12112895C>T | CA924991639 | DHTKD1 | c.2155-5C>T (n.2155-5C>T) c.658-5C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112896C>T | CA2608250707 | DHTKD1 | c.2155-4C>T (n.2155-4C>T) c.658-4C>T | gnomAD v4 |
10 | g.12112897C>T | CA2573144969 | DHTKD1 | c.2155-3C>T (n.2155-3C>T) c.658-3C>T | ClinVar dbSNP |
10 | g.12112898A>C | CA376013332 | DHTKD1 | c.2155-2A>C (n.2155-2A>C) c.658-2A>C | |
10 | g.12112898A>G | CA376013330 | DHTKD1 | c.2155-2A>G (n.2155-2A>G) c.658-2A>G | |
10 | g.12112898A>T | CA376013331 | DHTKD1 | c.2155-2A>T (n.2155-2A>T) c.658-2A>T | |
10 | g.12112899G>A | CA376013333 | DHTKD1 | c.2155-1G>A (n.2155-1G>A) c.658-1G>A | |
10 | g.12112899G>C | CA376013334 | DHTKD1 | c.2155-1G>C (n.2155-1G>C) c.658-1G>C | |
10 | g.12112899G>T | CA376013335 | DHTKD1 | c.2155-1G>T (n.2155-1G>T) c.658-1G>T | |
10 | g.12112900A>C | CA376013338 | DHTKD1 | c.2155A>C (p.Met719Leu) c.658A>C | |
10 | g.12112900A>G | CA376013337 | DHTKD1 | c.2155A>G (p.Met719Val) c.658A>G | |
10 | g.12112900A>T | CA376013336 | DHTKD1 | c.2155A>T (p.Met719Leu) c.658A>T | |
10 | g.12112901T>A | CA376013339 | DHTKD1 | c.2156T>A (p.Met719Lys) c.659T>A | |
10 | g.12112901T>C | CA376013340 | DHTKD1 | c.2156T>C (p.Met719Thr) c.659T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112901T>G | CA5408165 | DHTKD1 | c.2156T>G (p.Met719Arg) c.659T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112901T= | CA1890970462 | DHTKD1 | c.2156T= (p.Met719=) c.659T= | |
10 | g.12112902G>A | CA376013341 | DHTKD1 | c.2157G>A (p.Met719Ile) c.660G>A | |
10 | g.12112902G>C | CA376013342 | DHTKD1 | c.2157G>C (p.Met719Ile) c.660G>C | |
10 | g.12112902G>T | CA376013343 | DHTKD1 | c.2157G>T (p.Met719Ile) c.660G>T | |
10 | g.12112903T>A | CA376013344 | DHTKD1 | c.2158T>A (p.Cys720Ser) c.661T>A | |
10 | g.12112903T>C | CA376013346 | DHTKD1 | c.2158T>C (p.Cys720Arg) c.661T>C | gnomAD v4 |
10 | g.12112903T>G | CA376013345 | DHTKD1 | c.2158T>G (p.Cys720Gly) c.661T>G | |
10 | g.12112904G>A | CA376013347 | DHTKD1 | c.2159G>A (p.Cys720Tyr) c.662G>A | |
10 | g.12112904G>C | CA376013348 | DHTKD1 | c.2159G>C (p.Cys720Ser) c.662G>C | |
10 | g.12112904G>T | CA376013349 | DHTKD1 | c.2159G>T (p.Cys720Phe) c.662G>T | |
10 | g.12112905T>A | CA376013350 | DHTKD1 | c.2160T>A (p.Cys720Ter) c.663T>A | |
10 | g.12112905T>C | CA468220160 | DHTKD1 | c.2160T>C (p.Cys720=) c.663T>C | |
10 | g.12112905T>G | CA376013351 | DHTKD1 | c.2160T>G (p.Cys720Trp) c.663T>G | |
10 | g.12112906G>A | CA376013352 | DHTKD1 | c.2161G>A (p.Asp721Asn) c.664G>A | |
10 | g.12112906G>C | CA376013353 | DHTKD1 | c.2161G>C (p.Asp721His) c.664G>C | |
10 | g.12112906G>T | CA376013354 | DHTKD1 | c.2161G>T (p.Asp721Tyr) c.664G>T | |
10 | g.12112906_12112908delinsGAC | CA1890970465 | DHTKD1 | c.2161_2163delinsGAC (p.Asp721=) c.664_666delinsGAC | |
10 | g.12112907A= | CA1890970469 | DHTKD1 | c.2162A= (p.Asp721=) c.665A= | |
10 | g.12112907A>C | CA376013355 | DHTKD1 | c.2162A>C (p.Asp721Ala) c.665A>C | |
10 | g.12112907A>G | CA202559909 | DHTKD1 | c.2162A>G (p.Asp721Gly) c.665A>G | dbSNP gnomAD v4 |
10 | g.12112907A>T | CA376013356 | DHTKD1 | c.2162A>T (p.Asp721Val) c.665A>T | |
10 | g.12112908_12112909del | CA918604974 | DHTKD1 | c.2163_2164del (p.Asp721GlufsTer29) c.666_667del | dbSNP |
10 | g.12112908C>A | CA376013357 | DHTKD1 | c.2163C>A (p.Asp721Glu) c.666C>A | gnomAD v4 |
10 | g.12112908C>G | CA376013358 | DHTKD1 | c.2163C>G (p.Asp721Glu) c.666C>G | |
10 | g.12112908C>T | CA468220161 | DHTKD1 | c.2163C>T (p.Asp721=) c.666C>T | |
10 | g.12112909A= | CA1890970473 | DHTKD1 | c.2164A= (p.Ser722=) c.667A= | |
10 | g.12112909A>C | CA376013359 | DHTKD1 | c.2164A>C (p.Ser722Arg) c.667A>C | |
10 | g.12112909A>G | CA202559910 | DHTKD1 | c.2164A>G (p.Ser722Gly) c.667A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112909A>T | CA376013360 | DHTKD1 | c.2164A>T (p.Ser722Cys) c.667A>T | |
10 | g.12112910G>A | CA5408166 | DHTKD1 | c.2165G>A (p.Ser722Asn) c.668G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112910G>C | CA376013362 | DHTKD1 | c.2165G>C (p.Ser722Thr) c.668G>C | |
10 | g.12112910G= | CA1890970476 | DHTKD1 | c.2165G= (p.Ser722=) c.668G= | |
10 | g.12112910G>T | CA376013361 | DHTKD1 | c.2165G>T (p.Ser722Ile) c.668G>T | |
10 | g.12112911T>A | CA376013363 | DHTKD1 | c.2166T>A (p.Ser722Arg) c.669T>A | |
10 | g.12112911T>C | CA202559913 | DHTKD1 | c.2166T>C (p.Ser722=) c.669T>C | dbSNP gnomAD v4 |
10 | g.12112911T>G | CA5408167 | DHTKD1 | c.2166T>G (p.Ser722Arg) c.669T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.12112911T= | CA1890970481 | DHTKD1 | c.2166T= (p.Ser722=) c.669T= | |
10 | g.12112912G>A | CA376013364 | DHTKD1 | c.2167G>A (p.Ala723Thr) c.670G>A | |
10 | g.12112912G>C | CA376013365 | DHTKD1 | c.2167G>C (p.Ala723Pro) c.670G>C | |
10 | g.12112912G>T | CA376013366 | DHTKD1 | c.2167G>T (p.Ala723Ser) c.670G>T | |
10 | g.12112913C>A | CA376013367 | DHTKD1 | c.2168C>A (p.Ala723Glu) c.671C>A | gnomAD v4 |
10 | g.12112913C= | CA1890970485 | DHTKD1 | c.2168C= (p.Ala723=) c.671C= | |
10 | g.12112913C>G | CA376013368 | DHTKD1 | c.2168C>G (p.Ala723Gly) c.671C>G | |
10 | g.12112913C>T | CA5408168 | DHTKD1 | c.2168C>T (p.Ala723Val) c.671C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112914G>A | CA5408169 | DHTKD1 | c.2169G>A (p.Ala723=) c.672G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112914G>C | CA468220162 | DHTKD1 | c.2169G>C (p.Ala723=) c.672G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112914G= | CA1890970489 | DHTKD1 | c.2169G= (p.Ala723=) c.672G= | |
10 | g.12112914G>T | CA468220163 | DHTKD1 | c.2169G>T (p.Ala723=) c.672G>T | |
10 | g.12112915G>A | CA376013369 | DHTKD1 | c.2170G>A (p.Glu724Lys) c.673G>A | |
10 | g.12112915G>C | CA376013370 | DHTKD1 | c.2170G>C (p.Glu724Gln) c.673G>C | |
10 | g.12112915G>T | CA376013371 | DHTKD1 | c.2170G>T (p.Glu724Ter) c.673G>T | |
10 | g.12112916A>C | CA376013372 | DHTKD1 | c.2171A>C (p.Glu724Ala) c.674A>C | |
10 | g.12112916A>G | CA376013373 | DHTKD1 | c.2171A>G (p.Glu724Gly) c.674A>G | |
10 | g.12112916A>T | CA376013374 | DHTKD1 | c.2171A>T (p.Glu724Val) c.674A>T | |
10 | g.12112917A= | CA1890970492 | DHTKD1 | c.2172A= (p.Glu724=) c.675A= | |
10 | g.12112917A>C | CA376013375 | DHTKD1 | c.2172A>C (p.Glu724Asp) c.675A>C | |
10 | g.12112917A>G | CA468220164 | DHTKD1 | c.2172A>G (p.Glu724=) c.675A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112917A>T | CA376013376 | DHTKD1 | c.2172A>T (p.Glu724Asp) c.675A>T | |
10 | g.12112918G>A | CA376013377 | DHTKD1 | c.2173G>A (p.Glu725Lys) c.676G>A | |
10 | g.12112918G>C | CA376013378 | DHTKD1 | c.2173G>C (p.Glu725Gln) c.676G>C | |
10 | g.12112918G>T | CA376013379 | DHTKD1 | c.2173G>T (p.Glu725Ter) c.676G>T | |
10 | g.12112919A>C | CA376013380 | DHTKD1 | c.2174A>C (p.Glu725Ala) c.677A>C | |
10 | g.12112919A>G | CA376013381 | DHTKD1 | c.2174A>G (p.Glu725Gly) c.677A>G | |
10 | g.12112919A>T | CA376013382 | DHTKD1 | c.2174A>T (p.Glu725Val) c.677A>T | |
10 | g.12112920G>A | CA5408170 | DHTKD1 | c.2175G>A (p.Glu725=) c.678G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.12112920G>C | CA376013383 | DHTKD1 | c.2175G>C (p.Glu725Asp) c.678G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112920G= | CA1890970498 | DHTKD1 | c.2175G= (p.Glu725=) c.678G= | |
10 | g.12112920G>T | CA376013384 | DHTKD1 | c.2175G>T (p.Glu725Asp) c.678G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112924dup | CA2786660580 | DHTKD1 | c.2179dup (p.Val727GlyfsTer24) c.682dup | |
10 | g.12112921G>A | CA376013385 | DHTKD1 | c.2176G>A (p.Gly726Arg) c.679G>A | |
10 | g.12112921G>C | CA5408171 | DHTKD1 | c.2176G>C (p.Gly726Arg) c.679G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112921G= | CA1890970501 | DHTKD1 | c.2176G= (p.Gly726=) c.679G= | |
10 | g.12112921G>T | CA376013386 | DHTKD1 | c.2176G>T (p.Gly726Trp) c.679G>T | gnomAD v4 |
10 | g.12112922G>A | CA376013387 | DHTKD1 | c.2177G>A (p.Gly726Glu) c.680G>A | gnomAD v4 |
10 | g.12112922G>C | CA376013389 | DHTKD1 | c.2177G>C (p.Gly726Ala) c.680G>C | |
10 | g.12112922G>T | CA376013388 | DHTKD1 | c.2177G>T (p.Gly726Val) c.680G>T | |
10 | g.12112923G>A | CA468220165 | DHTKD1 | c.2178G>A (p.Gly726=) c.681G>A | gnomAD v4 |
10 | g.12112923G>C | CA468220166 | DHTKD1 | c.2178G>C (p.Gly726=) c.681G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112923G= | CA1890970504 | DHTKD1 | c.2178G= (p.Gly726=) c.681G= | |
10 | g.12112923G>T | CA468220167 | DHTKD1 | c.2178G>T (p.Gly726=) c.681G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112924G>A | CA376013390 | DHTKD1 | c.2179G>A (p.Val727Met) c.682G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112924G>C | CA376013391 | DHTKD1 | c.2179G>C (p.Val727Leu) c.682G>C | |
10 | g.12112924G= | CA1890970508 | DHTKD1 | c.2179G= (p.Val727=) c.682G= | |
10 | g.12112924G>T | CA376013392 | DHTKD1 | c.2179G>T (p.Val727Leu) c.682G>T | dbSNP gnomAD v4 |
10 | g.12112925T>A | CA376013393 | DHTKD1 | c.2180T>A (p.Val727Glu) c.683T>A | |
10 | g.12112925T>C | CA376013394 | DHTKD1 | c.2180T>C (p.Val727Ala) c.683T>C | gnomAD v4 COSMIC |
10 | g.12112925T>G | CA376013395 | DHTKD1 | c.2180T>G (p.Val727Gly) c.683T>G | |
10 | g.12112926G>A | CA468220168 | DHTKD1 | c.2181G>A (p.Val727=) c.684G>A | dbSNP |
10 | g.12112926G>C | CA468220170 | DHTKD1 | c.2181G>C (p.Val727=) c.684G>C | |
10 | g.12112926G= | CA1890970511 | DHTKD1 | c.2181G= (p.Val727=) c.684G= | |
10 | g.12112926G>T | CA468220169 | DHTKD1 | c.2181G>T (p.Val727=) c.684G>T | gnomAD v4 |
10 | g.12112927G>A | CA376013396 | DHTKD1 | c.2182G>A (p.Asp728Asn) c.685G>A | |
10 | g.12112927G>C | CA376013397 | DHTKD1 | c.2182G>C (p.Asp728His) c.685G>C | |
10 | g.12112927G>T | CA376013398 | DHTKD1 | c.2182G>T (p.Asp728Tyr) c.685G>T | |
10 | g.12112928A>C | CA376013399 | DHTKD1 | c.2183A>C (p.Asp728Ala) c.686A>C | gnomAD v4 |
10 | g.12112928A>G | CA376013400 | DHTKD1 | c.2183A>G (p.Asp728Gly) c.686A>G | |
10 | g.12112928A>T | CA376013401 | DHTKD1 | c.2183A>T (p.Asp728Val) c.686A>T | |
10 | g.12112929C>A | CA376013403 | DHTKD1 | c.2184C>A (p.Asp728Glu) c.687C>A | |
10 | g.12112929C= | CA1890970513 | DHTKD1 | c.2184C= (p.Asp728=) c.687C= | |
10 | g.12112929C>G | CA376013402 | DHTKD1 | c.2184C>G (p.Asp728Glu) c.687C>G | |
10 | g.12112929C>T | CA5408172 | DHTKD1 | c.2184C>T (p.Asp728=) c.687C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112930G>A | CA130360 | DHTKD1 | c.2185G>A (p.Gly729Arg) c.688G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112930G>C | CA376013404 | DHTKD1 | c.2185G>C (p.Gly729Arg) c.688G>C | |
10 | g.12112930G= | CA1890970518 | DHTKD1 | c.2185G= (p.Gly729=) c.688G= | |
10 | g.12112930G>T | CA376013405 | DHTKD1 | c.2185G>T (p.Gly729Ter) c.688G>T | |
10 | g.12112931G>A | CA376013406 | DHTKD1 | c.2186G>A (p.Gly729Glu) c.689G>A | gnomAD v4 |
10 | g.12112931G>C | CA376013407 | DHTKD1 | c.2186G>C (p.Gly729Ala) c.689G>C | |
10 | g.12112931G>T | CA376013408 | DHTKD1 | c.2186G>T (p.Gly729Val) c.689G>T |