Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.12107812A>G | CA2574503487 | DHTKD1 | c.2048-97A>G (n.2048-97A>G) c.551-97A>G | gnomAD v4 |
10 | g.12107812A>T | CA2608250392 | DHTKD1 | c.2048-97A>T (n.2048-97A>T) c.551-97A>T | gnomAD v4 |
10 | g.12107813G>A | CA2573718230 | DHTKD1 | c.2048-96G>A (n.2048-96G>A) c.551-96G>A | gnomAD v4 |
10 | g.12107813G>T | CA2608250393 | DHTKD1 | c.2048-96G>T (n.2048-96G>T) c.551-96G>T | gnomAD v4 |
10 | g.12107814G>A | CA1890966272 | DHTKD1 | c.2048-95G>A (n.2048-95G>A) c.551-95G>A | dbSNP gnomAD v4 |
10 | g.12107814G= | CA1890966271 | DHTKD1 | c.2048-95G= (n.2048-95G=) c.551-95G= | |
10 | g.12107814G>T | CA2608250394 | DHTKD1 | c.2048-95G>T (n.2048-95G>T) c.551-95G>T | gnomAD v4 |
10 | g.12107815C>A | CA2574503489 | DHTKD1 | c.2048-94C>A (n.2048-94C>A) c.551-94C>A | gnomAD v4 |
10 | g.12107815_12107822del | CA2574503488 | DHTKD1 | c.2048-94_2048-87del (n.2048-94_2048-87del) c.551-94_551-87del | |
10 | g.12107816A>C | CA2608250395 | DHTKD1 | c.2048-93A>C (n.2048-93A>C) c.551-93A>C | gnomAD v4 |
10 | g.12107817G>A | CA202555191 | DHTKD1 | c.2048-92G>A (n.2048-92G>A) c.551-92G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107817G= | CA1890966274 | DHTKD1 | c.2048-92G= (n.2048-92G=) c.551-92G= | |
10 | g.12107817G>T | CA2608250396 | DHTKD1 | c.2048-92G>T (n.2048-92G>T) c.551-92G>T | gnomAD v4 |
10 | g.12107820A>G | CA2608250397 | DHTKD1 | c.2048-89A>G (n.2048-89A>G) c.551-89A>G | gnomAD v4 |
10 | g.12107822C>A | CA2574503490 | DHTKD1 | c.2048-87C>A (n.2048-87C>A) c.551-87C>A | gnomAD v4 |
10 | g.12107822C= | CA1890966276 | DHTKD1 | c.2048-87C= (n.2048-87C=) c.551-87C= | |
10 | g.12107822C>G | CA924990898 | DHTKD1 | c.2048-87C>G (n.2048-87C>G) c.551-87C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107823T>A | CA2574503491 | DHTKD1 | c.2048-86T>A (n.2048-86T>A) c.551-86T>A | |
10 | g.12107823T>G | CA2608250398 | DHTKD1 | c.2048-86T>G (n.2048-86T>G) c.551-86T>G | gnomAD v4 |
10 | g.12107825del | CA2608250399 | DHTKD1 | c.2048-84del (n.2048-84del) c.551-84del | gnomAD v4 |
10 | g.12107826C>A | CA2608250400 | DHTKD1 | c.2048-83C>A (n.2048-83C>A) c.551-83C>A | gnomAD v4 |
10 | g.12107828T>C | CA2608250401 | DHTKD1 | c.2048-81T>C (n.2048-81T>C) c.551-81T>C | gnomAD v4 |
10 | g.12107829T>A | CA2608250402 | DHTKD1 | c.2048-80T>A (n.2048-80T>A) c.551-80T>A | gnomAD v4 |
10 | g.12107829T>C | CA202555207 | DHTKD1 | c.2048-80T>C (n.2048-80T>C) c.551-80T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107829T= | CA1890966278 | DHTKD1 | c.2048-80T= (n.2048-80T=) c.551-80T= | |
10 | g.12107830G>T | CA2608250403 | DHTKD1 | c.2048-79G>T (n.2048-79G>T) c.551-79G>T | gnomAD v4 |
10 | g.12107831A= | CA1890966281 | DHTKD1 | c.2048-78A= (n.2048-78A=) c.551-78A= | |
10 | g.12107831A>C | CA2608250404 | DHTKD1 | c.2048-78A>C (n.2048-78A>C) c.551-78A>C | gnomAD v4 |
10 | g.12107831A>G | CA202555218 | DHTKD1 | c.2048-78A>G (n.2048-78A>G) c.551-78A>G | dbSNP gnomAD v4 |
10 | g.12107834dup | CA2608250405 | DHTKD1 | c.2048-75dup (n.2048-75dup) c.551-75dup | gnomAD v4 |
10 | g.12107833T>C | CA2608250406 | DHTKD1 | c.2048-76T>C (n.2048-76T>C) c.551-76T>C | dbSNP gnomAD v4 |
10 | g.12107835C= | CA1890966283 | DHTKD1 | c.2048-74C= (n.2048-74C=) c.551-74C= | |
10 | g.12107835C>T | CA660765625 | DHTKD1 | c.2048-74C>T (n.2048-74C>T) c.551-74C>T | dbSNP |
10 | g.12107838del | CA2608250407 | DHTKD1 | c.2048-71del (n.2048-71del) c.551-71del | gnomAD v4 |
10 | g.12107837_12107838del | CA2573718231 | DHTKD1 | c.2048-72_2048-71del (n.2048-72_2048-71del) c.551-72_551-71del | |
10 | g.12107836C= | CA1890966286 | DHTKD1 | c.2048-73C= (n.2048-73C=) c.551-73C= | |
10 | g.12107836C>T | CA202555221 | DHTKD1 | c.2048-73C>T (n.2048-73C>T) c.551-73C>T | dbSNP |
10 | g.12107837C>A | CA660765628 | DHTKD1 | c.2048-72C>A (n.2048-72C>A) c.551-72C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107837C= | CA1890966290 | DHTKD1 | c.2048-72C= (n.2048-72C=) c.551-72C= | |
10 | g.12107837C>G | CA2608250408 | DHTKD1 | c.2048-72C>G (n.2048-72C>G) c.551-72C>G | gnomAD v4 |
10 | g.12107837C>T | CA2573718232 | DHTKD1 | c.2048-72C>T (n.2048-72C>T) c.551-72C>T | gnomAD v4 |
10 | g.12107838C>A | CA2573718233 | DHTKD1 | c.2048-71C>A (n.2048-71C>A) c.551-71C>A | gnomAD v4 |
10 | g.12107838C= | CA1890966292 | DHTKD1 | c.2048-71C= (n.2048-71C=) c.551-71C= | |
10 | g.12107838C>T | CA202555231 | DHTKD1 | c.2048-71C>T (n.2048-71C>T) c.551-71C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107839A= | CA1890966295 | DHTKD1 | c.2048-70A= (n.2048-70A=) c.551-70A= | |
10 | g.12107839A>T | CA202555236 | DHTKD1 | c.2048-70A>T (n.2048-70A>T) c.551-70A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107840G>A | CA2608250409 | DHTKD1 | c.2048-69G>A (n.2048-69G>A) c.551-69G>A | gnomAD v4 |
10 | g.12107841C>A | CA2574503492 | DHTKD1 | c.2048-68C>A (n.2048-68C>A) c.551-68C>A | gnomAD v4 |
10 | g.12107841C>T | CA2608250410 | DHTKD1 | c.2048-68C>T (n.2048-68C>T) c.551-68C>T | gnomAD v4 |
10 | g.12107842T>G | CA2608250411 | DHTKD1 | c.2048-67T>G (n.2048-67T>G) c.551-67T>G | gnomAD v4 |
10 | g.12107843G>A | CA202555238 | DHTKD1 | c.2048-66G>A (n.2048-66G>A) c.551-66G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107843G= | CA1890966296 | DHTKD1 | c.2048-66G= (n.2048-66G=) c.551-66G= | |
10 | g.12107843G>T | CA2608250412 | DHTKD1 | c.2048-66G>T (n.2048-66G>T) c.551-66G>T | gnomAD v4 |
10 | g.12107844A>G | CA2608250413 | DHTKD1 | c.2048-65A>G (n.2048-65A>G) c.551-65A>G | gnomAD v4 |
10 | g.12107845G>A | CA1890966300 | DHTKD1 | c.2048-64G>A (n.2048-64G>A) c.551-64G>A | dbSNP gnomAD v4 |
10 | g.12107845G= | CA1890966299 | DHTKD1 | c.2048-64G= (n.2048-64G=) c.551-64G= | |
10 | g.12107845G>T | CA2608250414 | DHTKD1 | c.2048-64G>T (n.2048-64G>T) c.551-64G>T | gnomAD v4 |
10 | g.12107846T>A | CA2608250415 | DHTKD1 | c.2048-63T>A (n.2048-63T>A) c.551-63T>A | gnomAD v4 |
10 | g.12107847C>A | CA2574503493 | DHTKD1 | c.2048-62C>A (n.2048-62C>A) c.551-62C>A | gnomAD v4 |
10 | g.12107847C= | CA1890966301 | DHTKD1 | c.2048-62C= (n.2048-62C=) c.551-62C= | |
10 | g.12107847C>G | CA2608250416 | DHTKD1 | c.2048-62C>G (n.2048-62C>G) c.551-62C>G | gnomAD v4 |
10 | g.12107847C>T | CA202555239 | DHTKD1 | c.2048-62C>T (n.2048-62C>T) c.551-62C>T | dbSNP gnomAD v4 |
10 | g.12107848G>A | CA202555245 | DHTKD1 | c.2048-61G>A (n.2048-61G>A) c.551-61G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107848G= | CA1890966305 | DHTKD1 | c.2048-61G= (n.2048-61G=) c.551-61G= | |
10 | g.12107849T>A | CA2573718234 | DHTKD1 | c.2048-60T>A (n.2048-60T>A) c.551-60T>A | |
10 | g.12107849T>C | CA2721013266 | DHTKD1 | c.2048-60T>C (n.2048-60T>C) c.551-60T>C | dbSNP |
10 | g.12107850G>A | CA2574503494 | DHTKD1 | c.2048-59G>A (n.2048-59G>A) c.551-59G>A | |
10 | g.12107850G>T | CA2608250417 | DHTKD1 | c.2048-59G>T (n.2048-59G>T) c.551-59G>T | gnomAD v4 |
10 | g.12107851T>C | CA2608250418 | DHTKD1 | c.2048-58T>C (n.2048-58T>C) c.551-58T>C | gnomAD v4 |
10 | g.12107852C>A | CA2608250419 | DHTKD1 | c.2048-57C>A (n.2048-57C>A) c.551-57C>A | gnomAD v4 |
10 | g.12107852C= | CA1890966307 | DHTKD1 | c.2048-57C= (n.2048-57C=) c.551-57C= | |
10 | g.12107852C>T | CA202555248 | DHTKD1 | c.2048-57C>T (n.2048-57C>T) c.551-57C>T | dbSNP gnomAD v4 |
10 | g.12107855del | CA2608250420 | DHTKD1 | c.2048-54del (n.2048-54del) c.551-54del | gnomAD v4 |
10 | g.12107855G>T | CA2608250421 | DHTKD1 | c.2048-54G>T (n.2048-54G>T) c.551-54G>T | gnomAD v4 |
10 | g.12107856C>A | CA202555251 | DHTKD1 | c.2048-53C>A (n.2048-53C>A) c.551-53C>A | dbSNP gnomAD v4 |
10 | g.12107856C= | CA1890966312 | DHTKD1 | c.2048-53C= (n.2048-53C=) c.551-53C= | |
10 | g.12107857C>A | CA2574503495 | DHTKD1 | c.2048-52C>A (n.2048-52C>A) c.551-52C>A | gnomAD v4 |
10 | g.12107857C>T | CA2608250422 | DHTKD1 | c.2048-52C>T (n.2048-52C>T) c.551-52C>T | gnomAD v4 |
10 | g.12107858A= | CA1890966314 | DHTKD1 | c.2048-51A= (n.2048-51A=) c.551-51A= | |
10 | g.12107858A>C | CA5408111 | DHTKD1 | c.2048-51A>C (n.2048-51A>C) c.551-51A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107858A>G | CA2608250423 | DHTKD1 | c.2048-51A>G (n.2048-51A>G) c.551-51A>G | gnomAD v4 |
10 | g.12107859C>A | CA2608250424 | DHTKD1 | c.2048-50C>A (n.2048-50C>A) c.551-50C>A | gnomAD v4 |
10 | g.12107860T>G | CA2608250425 | DHTKD1 | c.2048-49T>G (n.2048-49T>G) c.551-49T>G | gnomAD v4 |
10 | g.12107862T>C | CA591543054 | DHTKD1 | c.2048-47T>C (n.2048-47T>C) c.551-47T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12107862T= | CA1890966320 | DHTKD1 | c.2048-47T= (n.2048-47T=) c.551-47T= | |
10 | g.12107863G>A | CA1890966324 | DHTKD1 | c.2048-46G>A (n.2048-46G>A) c.551-46G>A | dbSNP |
10 | g.12107863G= | CA1890966322 | DHTKD1 | c.2048-46G= (n.2048-46G=) c.551-46G= | |
10 | g.12107865C>A | CA5408113 | DHTKD1 | c.2048-44C>A (n.2048-44C>A) c.551-44C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.12107865C= | CA1890966327 | DHTKD1 | c.2048-44C= (n.2048-44C=) c.551-44C= | |
10 | g.12107865C>G | CA2608250426 | DHTKD1 | c.2048-44C>G (n.2048-44C>G) c.551-44C>G | gnomAD v4 |
10 | g.12107865C>T | CA5408112 | DHTKD1 | c.2048-44C>T (n.2048-44C>T) c.551-44C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107868del | CA2608250427 | DHTKD1 | c.2048-41del (n.2048-41del) c.551-41del | gnomAD v4 |
10 | g.12107866C>A | CA2608250428 | DHTKD1 | c.2048-43C>A (n.2048-43C>A) c.551-43C>A | gnomAD v4 |
10 | g.12107866C>T | CA2608250429 | DHTKD1 | c.2048-43C>T (n.2048-43C>T) c.551-43C>T | gnomAD v4 |
10 | g.12107867C>A | CA2786660363 | DHTKD1 | c.2048-42C>A (n.2048-42C>A) c.551-42C>A | |
10 | g.12107868C>A | CA2608250430 | DHTKD1 | c.2048-41C>A (n.2048-41C>A) c.551-41C>A | gnomAD v4 |
10 | g.12107868C= | CA1890966331 | DHTKD1 | c.2048-41C= (n.2048-41C=) c.551-41C= | |
10 | g.12107868C>T | CA5408114 | DHTKD1 | c.2048-41C>T (n.2048-41C>T) c.551-41C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107869G>A | CA5408115 | DHTKD1 | c.2048-40G>A (n.2048-40G>A) c.551-40G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107869G= | CA1890966334 | DHTKD1 | c.2048-40G= (n.2048-40G=) c.551-40G= | |
10 | g.12107869G>T | CA660765642 | DHTKD1 | c.2048-40G>T (n.2048-40G>T) c.551-40G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107870C>A | CA2574503496 | DHTKD1 | c.2048-39C>A (n.2048-39C>A) c.551-39C>A | gnomAD v4 |
10 | g.12107871T>G | CA2608250431 | DHTKD1 | c.2048-38T>G (n.2048-38T>G) c.551-38T>G | gnomAD v4 |
10 | g.12107873C>A | CA2608250432 | DHTKD1 | c.2048-36C>A (n.2048-36C>A) c.551-36C>A | gnomAD v4 |
10 | g.12107873C= | CA1890966337 | DHTKD1 | c.2048-36C= (n.2048-36C=) c.551-36C= | |
10 | g.12107873C>T | CA5408116 | DHTKD1 | c.2048-36C>T (n.2048-36C>T) c.551-36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107873_12107896delinsCGTAGAGCTCTTACTCCCCACGTG | CA1890966335 | DHTKD1 | c.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG (n.2048-36_2048-13delinsCGTAGAGCTCTTACTCCCCACGTG) c.551-36_551-13delinsCGTAGAGCTCTTACTCCCCACGTG | |
10 | g.12107874G>A | CA5408117 | DHTKD1 | c.2048-35G>A (n.2048-35G>A) c.551-35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107874G>C | CA5408118 | DHTKD1 | c.2048-35G>C (n.2048-35G>C) c.551-35G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107874G= | CA1890966341 | DHTKD1 | c.2048-35G= (n.2048-35G=) c.551-35G= | |
10 | g.12107874G>T | CA2574503497 | DHTKD1 | c.2048-35G>T (n.2048-35G>T) c.551-35G>T | gnomAD v4 |
10 | g.12107877_12107899del | CA591543086 | DHTKD1 | c.2048-32_2048-10del (n.2048-32_2048-10del) c.551-32_551-10del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107875T>C | CA2574503498 | DHTKD1 | c.2048-34T>C (n.2048-34T>C) c.551-34T>C | gnomAD v3 gnomAD v4 |
10 | g.12107875T>G | CA2608250433 | DHTKD1 | c.2048-34T>G (n.2048-34T>G) c.551-34T>G | gnomAD v4 |
10 | g.12107875_12107877delinsTAG | CA1890966344 | DHTKD1 | c.2048-34_2048-32delinsTAG (n.2048-34_2048-32delinsTAG) c.551-34_551-32delinsTAG | |
10 | g.12107876A= | CA1890966348 | DHTKD1 | c.2048-33A= (n.2048-33A=) c.551-33A= | |
10 | g.12107876A>C | CA2608250434 | DHTKD1 | c.2048-33A>C (n.2048-33A>C) c.551-33A>C | gnomAD v4 |
10 | g.12107876A>G | CA660765653 | DHTKD1 | c.2048-33A>G (n.2048-33A>G) c.551-33A>G | dbSNP |
10 | g.12107878_12107879del | CA1890966346 | DHTKD1 | c.2048-31_2048-30del (n.2048-31_2048-30del) c.551-31_551-30del | dbSNP |
10 | g.12107877G>A | CA2608250436 | DHTKD1 | c.2048-32G>A (n.2048-32G>A) c.551-32G>A | gnomAD v4 |
10 | g.12107877G>T | CA2608250437 | DHTKD1 | c.2048-32G>T (n.2048-32G>T) c.551-32G>T | gnomAD v4 |
10 | g.12107877dup | CA2608250435 | DHTKD1 | c.2048-32dup (n.2048-32dup) c.551-32dup | gnomAD v4 |
10 | g.12107878A= | CA1890966350 | DHTKD1 | c.2048-31A= (n.2048-31A=) c.551-31A= | |
10 | g.12107878A>G | CA660765654 | DHTKD1 | c.2048-31A>G (n.2048-31A>G) c.551-31A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107879G>A | CA591543100 | DHTKD1 | c.2048-30G>A (n.2048-30G>A) c.551-30G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107879G= | CA1890966352 | DHTKD1 | c.2048-30G= (n.2048-30G=) c.551-30G= | |
10 | g.12107879G>T | CA2608250438 | DHTKD1 | c.2048-30G>T (n.2048-30G>T) c.551-30G>T | gnomAD v4 |
10 | g.12107880C>A | CA2574503499 | DHTKD1 | c.2048-29C>A (n.2048-29C>A) c.551-29C>A | gnomAD v4 |
10 | g.12107881T>G | CA2608250439 | DHTKD1 | c.2048-28T>G (n.2048-28T>G) c.551-28T>G | gnomAD v4 |
10 | g.12107883T>G | CA2608250440 | DHTKD1 | c.2048-26T>G (n.2048-26T>G) c.551-26T>G | gnomAD v4 |
10 | g.12107884T>C | CA2608250441 | DHTKD1 | c.2048-25T>C (n.2048-25T>C) c.551-25T>C | gnomAD v4 |
10 | g.12107886C>A | CA2608250442 | DHTKD1 | c.2048-23C>A (n.2048-23C>A) c.551-23C>A | gnomAD v4 |
10 | g.12107887T>A | CA2608250443 | DHTKD1 | c.2048-22T>A (n.2048-22T>A) c.551-22T>A | gnomAD v4 |
10 | g.12107887T>C | CA660765658 | DHTKD1 | c.2048-22T>C (n.2048-22T>C) c.551-22T>C | dbSNP |
10 | g.12107887T>G | CA2608250444 | DHTKD1 | c.2048-22T>G (n.2048-22T>G) c.551-22T>G | gnomAD v4 |
10 | g.12107887T= | CA1890966353 | DHTKD1 | c.2048-22T= (n.2048-22T=) c.551-22T= | |
10 | g.12107888C>A | CA2574503500 | DHTKD1 | c.2048-21C>A (n.2048-21C>A) c.551-21C>A | |
10 | g.12107888C= | CA1890966356 | DHTKD1 | c.2048-21C= (n.2048-21C=) c.551-21C= | |
10 | g.12107888C>G | CA591543106 | DHTKD1 | c.2048-21C>G (n.2048-21C>G) c.551-21C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12107888C>T | CA660765660 | DHTKD1 | c.2048-21C>T (n.2048-21C>T) c.551-21C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107889C>A | CA660765663 | DHTKD1 | c.2048-20C>A (n.2048-20C>A) c.551-20C>A | dbSNP gnomAD v4 |
10 | g.12107889C= | CA1890966359 | DHTKD1 | c.2048-20C= (n.2048-20C=) c.551-20C= | |
10 | g.12107890C>A | CA2608250445 | DHTKD1 | c.2048-19C>A (n.2048-19C>A) c.551-19C>A | gnomAD v4 |
10 | g.12107891C>A | CA5408119 | DHTKD1 | c.2048-18C>A (n.2048-18C>A) c.551-18C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107891C= | CA1890966361 | DHTKD1 | c.2048-18C= (n.2048-18C=) c.551-18C= | |
10 | g.12107891C>T | CA2740092960 | DHTKD1 | c.2048-18C>T (n.2048-18C>T) c.551-18C>T | ClinVar |
10 | g.12107893C>A | CA2608250446 | DHTKD1 | c.2048-16C>A (n.2048-16C>A) c.551-16C>A | gnomAD v4 |
10 | g.12107893C= | CA1890966363 | DHTKD1 | c.2048-16C= (n.2048-16C=) c.551-16C= | |
10 | g.12107893C>G | CA2608250447 | DHTKD1 | c.2048-16C>G (n.2048-16C>G) c.551-16C>G | gnomAD v4 |
10 | g.12107893C>T | CA5408120 | DHTKD1 | c.2048-16C>T (n.2048-16C>T) c.551-16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107894G>A | CA5408121 | DHTKD1 | c.2048-15G>A (n.2048-15G>A) c.551-15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107894G>C | CA5408122 | DHTKD1 | c.2048-15G>C (n.2048-15G>C) c.551-15G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107894G= | CA1890966367 | DHTKD1 | c.2048-15G= (n.2048-15G=) c.551-15G= | |
10 | g.12107894G>T | CA2608250448 | DHTKD1 | c.2048-15G>T (n.2048-15G>T) c.551-15G>T | gnomAD v4 |
10 | g.12107895T>C | CA2608250449 | DHTKD1 | c.2048-14T>C (n.2048-14T>C) c.551-14T>C | gnomAD v4 |
10 | g.12107895T>G | CA591543133 | DHTKD1 | c.2048-14T>G (n.2048-14T>G) c.551-14T>G | dbSNP gnomAD v2 |
10 | g.12107895T= | CA1890966370 | DHTKD1 | c.2048-14T= (n.2048-14T=) c.551-14T= | |
10 | g.12107897del | CA2608250450 | DHTKD1 | c.2048-12del (n.2048-12del) c.551-12del | gnomAD v4 |
10 | g.12107897G>A | CA2580916076 | DHTKD1 | c.2048-12G>A (n.2048-12G>A) c.551-12G>A | |
10 | g.12107897G>C | CA2580916075 | DHTKD1 | c.2048-12G>C (n.2048-12G>C) c.551-12G>C | |
10 | g.12107897G= | CA1890966374 | DHTKD1 | c.2048-12G= (n.2048-12G=) c.551-12G= | |
10 | g.12107897G>T | CA5408123 | DHTKD1 | c.2048-12G>T (n.2048-12G>T) c.551-12G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107898T>C | CA5408124 | DHTKD1 | c.2048-11T>C (n.2048-11T>C) c.551-11T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107898T= | CA1890966377 | DHTKD1 | c.2048-11T= (n.2048-11T=) c.551-11T= | |
10 | g.12107899A= | CA1890966379 | DHTKD1 | c.2048-10A= (n.2048-10A=) c.551-10A= | |
10 | g.12107899A>G | CA924990903 | DHTKD1 | c.2048-10A>G (n.2048-10A>G) c.551-10A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12107900C>A | CA2608250451 | DHTKD1 | c.2048-9C>A (n.2048-9C>A) c.551-9C>A | gnomAD v4 |
10 | g.12107900C= | CA1890966380 | DHTKD1 | c.2048-9C= (n.2048-9C=) c.551-9C= | |
10 | g.12107900C>G | CA5408125 | DHTKD1 | c.2048-9C>G (n.2048-9C>G) c.551-9C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
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.12107902T>A | CA2608250452 | DHTKD1 | c.2048-7T>A (n.2048-7T>A) c.551-7T>A | gnomAD v4 |
10 | g.12107903T>C | CA591543147 | DHTKD1 | c.2048-6T>C (n.2048-6T>C) c.551-6T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107903T= | CA1890966383 | DHTKD1 | c.2048-6T= (n.2048-6T=) c.551-6T= | |
10 | g.12107905C>A | CA2608250453 | DHTKD1 | c.2048-4C>A (n.2048-4C>A) c.551-4C>A | gnomAD v4 |
10 | g.12107905C= | CA1890966386 | DHTKD1 | c.2048-4C= (n.2048-4C=) c.551-4C= | |
10 | g.12107905C>T | CA5408126 | DHTKD1 | c.2048-4C>T (n.2048-4C>T) c.551-4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12107906C>A | CA2608250454 | DHTKD1 | c.2048-3C>A (n.2048-3C>A) c.551-3C>A | gnomAD v4 |
10 | g.12107906C>T | CA2574503501 | DHTKD1 | c.2048-3C>T (n.2048-3C>T) c.551-3C>T | gnomAD v4 |
10 | g.12107907A>C | CA376012102 | DHTKD1 | c.2048-2A>C (n.2048-2A>C) c.551-2A>C | gnomAD v4 |
10 | g.12107907A>G | CA376012106 | DHTKD1 | c.2048-2A>G (n.2048-2A>G) c.551-2A>G | gnomAD v4 |
10 | g.12107907A>T | CA376012105 | DHTKD1 | c.2048-2A>T (n.2048-2A>T) c.551-2A>T | |
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 |