Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.97601781_97601793dup | CA1930508421 | HOGA1 | c.701-76_701-64dup (n.701-76_701-64dup) c.111-76_111-64dup c.212-76_212-64dup (n.212-76_212-64dup) | dbSNP |
10 | g.97601789G>A | CA2610412644 | HOGA1 | c.701-68G>A (n.701-68G>A) c.111-68G>A c.212-68G>A (n.212-68G>A) | gnomAD v4 |
10 | g.97601790G>A | CA931582843 | HOGA1 | c.701-67G>A (n.701-67G>A) c.111-67G>A c.212-67G>A (n.212-67G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601790G= | CA1930508430 | HOGA1 | c.701-67G= (n.701-67G=) c.111-67G= c.212-67G= (n.212-67G=) | |
10 | g.97601790G>T | CA2789141643 | HOGA1 | c.701-67G>T (n.701-67G>T) c.111-67G>T c.212-67G>T (n.212-67G>T) | |
10 | g.97601792A>G | CA2610412645 | HOGA1 | c.701-65A>G (n.701-65A>G) c.111-65A>G c.212-65A>G (n.212-65A>G) | gnomAD v4 |
10 | g.97601793C>A | CA2610412646 | HOGA1 | c.701-64C>A (n.701-64C>A) c.111-64C>A c.212-64C>A (n.212-64C>A) | gnomAD v4 |
10 | g.97601794C>A | CA2610412648 | HOGA1 | c.701-63C>A (n.701-63C>A) c.111-63C>A c.212-63C>A (n.212-63C>A) | gnomAD v4 |
10 | g.97601797G>A | CA670420630 | HOGA1 | c.701-60G>A (n.701-60G>A) c.111-60G>A c.212-60G>A (n.212-60G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601797G>C | CA1930508433 | HOGA1 | c.701-60G>C (n.701-60G>C) c.111-60G>C c.212-60G>C (n.212-60G>C) | dbSNP gnomAD v4 |
10 | g.97601797G= | CA1930508432 | HOGA1 | c.701-60G= (n.701-60G=) c.111-60G= c.212-60G= (n.212-60G=) | |
10 | g.97601798G>A | CA931582845 | HOGA1 | c.701-59G>A (n.701-59G>A) c.111-59G>A c.212-59G>A (n.212-59G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601798G= | CA1930508435 | HOGA1 | c.701-59G= (n.701-59G=) c.111-59G= c.212-59G= (n.212-59G=) | |
10 | g.97601798G>T | CA2610412654 | HOGA1 | c.701-59G>T (n.701-59G>T) c.111-59G>T c.212-59G>T (n.212-59G>T) | gnomAD v4 |
10 | g.97601799C>A | CA2610412660 | HOGA1 | c.701-58C>A (n.701-58C>A) c.111-58C>A c.212-58C>A (n.212-58C>A) | gnomAD v4 |
10 | g.97601799C= | CA1930508437 | HOGA1 | c.701-58C= (n.701-58C=) c.111-58C= c.212-58C= (n.212-58C=) | |
10 | g.97601799C>T | CA670420632 | HOGA1 | c.701-58C>T (n.701-58C>T) c.111-58C>T c.212-58C>T (n.212-58C>T) | dbSNP gnomAD v4 |
10 | g.97601800T>G | CA2610412666 | HOGA1 | c.701-57T>G (n.701-57T>G) c.111-57T>G c.212-57T>G (n.212-57T>G) | gnomAD v4 |
10 | g.97601801del | CA2574631721 | HOGA1 | c.701-56del (n.701-56del) c.111-56del c.212-56del (n.212-56del) | |
10 | g.97601802G>T | CA2610412680 | HOGA1 | c.701-55G>T (n.701-55G>T) c.111-55G>T c.212-55G>T (n.212-55G>T) | gnomAD v4 |
10 | g.97601804G>A | CA670420637 | HOGA1 | c.701-53G>A (n.701-53G>A) c.111-53G>A c.212-53G>A (n.212-53G>A) | dbSNP gnomAD v4 |
10 | g.97601804G= | CA1930508440 | HOGA1 | c.701-53G= (n.701-53G=) c.111-53G= c.212-53G= (n.212-53G=) | |
10 | g.97601805A= | CA1930508446 | HOGA1 | c.701-52A= (n.701-52A=) c.111-52A= c.212-52A= (n.212-52A=) | |
10 | g.97601805A>T | CA1930508444 | HOGA1 | c.701-52A>T (n.701-52A>T) c.111-52A>T c.212-52A>T (n.212-52A>T) | dbSNP |
10 | g.97601805_97601806delinsAT | CA1930508448 | HOGA1 | c.701-52_701-51delinsAT (n.701-52_701-51delinsAT) c.111-52_111-51delinsAT c.212-52_212-51delinsAT (n.212-52_212-51delinsAT) | |
10 | g.97601806del | CA212675038 | HOGA1 | c.701-51del (n.701-51del) c.111-51del c.212-51del (n.212-51del) | dbSNP |
10 | g.97601806T>G | CA5634206 | HOGA1 | c.701-51T>G (n.701-51T>G) c.111-51T>G c.212-51T>G (n.212-51T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601806T= | CA1930508454 | HOGA1 | c.701-51T= (n.701-51T=) c.111-51T= c.212-51T= (n.212-51T=) | |
10 | g.97601807G>T | CA2789141644 | HOGA1 | c.701-50G>T (n.701-50G>T) c.111-50G>T c.212-50G>T (n.212-50G>T) | |
10 | g.97601808C= | CA1930508458 | HOGA1 | c.701-49C= (n.701-49C=) c.111-49C= c.212-49C= (n.212-49C=) | |
10 | g.97601808C>G | CA2574631722 | HOGA1 | c.701-49C>G (n.701-49C>G) c.111-49C>G c.212-49C>G (n.212-49C>G) | |
10 | g.97601808C>T | CA5634207 | HOGA1 | c.701-49C>T (n.701-49C>T) c.111-49C>T c.212-49C>T (n.212-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601809C= | CA1930508461 | HOGA1 | c.701-48C= (n.701-48C=) c.111-48C= c.212-48C= (n.212-48C=) | |
10 | g.97601809C>T | CA1930508462 | HOGA1 | c.701-48C>T (n.701-48C>T) c.111-48C>T c.212-48C>T (n.212-48C>T) | dbSNP |
10 | g.97601810T>C | CA5634208 | HOGA1 | c.701-47T>C (n.701-47T>C) c.111-47T>C c.212-47T>C (n.212-47T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.97601810T= | CA1930508464 | HOGA1 | c.701-47T= (n.701-47T=) c.111-47T= c.212-47T= (n.212-47T=) | |
10 | g.97601811G>A | CA595408502 | HOGA1 | c.701-46G>A (n.701-46G>A) c.111-46G>A c.212-46G>A (n.212-46G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601811G= | CA1930508467 | HOGA1 | c.701-46G= (n.701-46G=) c.111-46G= c.212-46G= (n.212-46G=) | |
10 | g.97601812G>A | CA2610412704 | HOGA1 | c.701-45G>A (n.701-45G>A) c.111-45G>A c.212-45G>A (n.212-45G>A) | gnomAD v4 |
10 | g.97601814G>A | CA2610412705 | HOGA1 | c.701-43G>A (n.701-43G>A) c.111-43G>A c.212-43G>A (n.212-43G>A) | gnomAD v4 |
10 | g.97601815G>A | CA2610412706 | HOGA1 | c.701-42G>A (n.701-42G>A) c.111-42G>A c.212-42G>A (n.212-42G>A) | gnomAD v4 |
10 | g.97601816G>A | CA5634209 | HOGA1 | c.701-41G>A (n.701-41G>A) c.111-41G>A c.212-41G>A (n.212-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601816G= | CA1930508469 | HOGA1 | c.701-41G= (n.701-41G=) c.111-41G= c.212-41G= (n.212-41G=) | |
10 | g.97601817G>A | CA2610412719 | HOGA1 | c.701-40G>A (n.701-40G>A) c.111-40G>A c.212-40G>A (n.212-40G>A) | gnomAD v4 |
10 | g.97601817G>T | CA2610412722 | HOGA1 | c.701-40G>T (n.701-40G>T) c.111-40G>T c.212-40G>T (n.212-40G>T) | gnomAD v4 |
10 | g.97601819G>A | CA2574631723 | HOGA1 | c.701-38G>A (n.701-38G>A) c.111-38G>A c.212-38G>A (n.212-38G>A) | |
10 | g.97601822G>A | CA5634210 | HOGA1 | c.701-35G>A (n.701-35G>A) c.111-35G>A c.212-35G>A (n.212-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601822G= | CA1930508475 | HOGA1 | c.701-35G= (n.701-35G=) c.111-35G= c.212-35G= (n.212-35G=) | |
10 | g.97601823C>A | CA2610412731 | HOGA1 | c.701-34C>A (n.701-34C>A) c.111-34C>A c.212-34C>A (n.212-34C>A) | gnomAD v4 |
10 | g.97601824T>A | CA653879836 | HOGA1 | c.701-33T>A (n.701-33T>A) c.111-33T>A c.212-33T>A (n.212-33T>A) | COSMIC |
10 | g.97601825C= | CA1930508481 | HOGA1 | c.701-32C= (n.701-32C=) c.111-32C= c.212-32C= (n.212-32C=) | |
10 | g.97601825C>G | CA2610412735 | HOGA1 | c.701-32C>G (n.701-32C>G) c.111-32C>G c.212-32C>G (n.212-32C>G) | gnomAD v4 |
10 | g.97601825C>T | CA595408726 | HOGA1 | c.701-32C>T (n.701-32C>T) c.111-32C>T c.212-32C>T (n.212-32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601826T>C | CA2574631724 | HOGA1 | c.701-31T>C (n.701-31T>C) c.111-31T>C c.212-31T>C (n.212-31T>C) | |
10 | g.97601826dup | CA595408727 | HOGA1 | c.701-31dup (n.701-31dup) c.111-31dup c.212-31dup (n.212-31dup) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601827G>A | CA5634211 | HOGA1 | c.701-30G>A (n.701-30G>A) c.111-30G>A c.212-30G>A (n.212-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601827G= | CA1930508485 | HOGA1 | c.701-30G= (n.701-30G=) c.111-30G= c.212-30G= (n.212-30G=) | |
10 | g.97601828del | CA2574631725 | HOGA1 | c.701-29del (n.701-29del) c.111-29del c.212-29del (n.212-29del) | |
10 | g.97601828G>C | CA2589010514 | HOGA1 | c.701-29G>C (n.701-29G>C) c.111-29G>C c.212-29G>C (n.212-29G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601829C= | CA1930508488 | HOGA1 | c.701-28C= (n.701-28C=) c.111-28C= c.212-28C= (n.212-28C=) | |
10 | g.97601829C>G | CA5634212 | HOGA1 | c.701-28C>G (n.701-28C>G) c.111-28C>G c.212-28C>G (n.212-28C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601829C>T | CA931582854 | HOGA1 | c.701-28C>T (n.701-28C>T) c.111-28C>T c.212-28C>T (n.212-28C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601833T>C | CA212675073 | HOGA1 | c.701-24T>C (n.701-24T>C) c.111-24T>C c.212-24T>C (n.212-24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601833T= | CA1930508494 | HOGA1 | c.701-24T= (n.701-24T=) c.111-24T= c.212-24T= (n.212-24T=) | |
10 | g.97601834G>A | CA670420669 | HOGA1 | c.701-23G>A (n.701-23G>A) c.111-23G>A c.212-23G>A (n.212-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601834G= | CA1930508496 | HOGA1 | c.701-23G= (n.701-23G=) c.111-23G= c.212-23G= (n.212-23G=) | |
10 | g.97601834G>T | CA2610412782 | HOGA1 | c.701-23G>T (n.701-23G>T) c.111-23G>T c.212-23G>T (n.212-23G>T) | gnomAD v4 |
10 | g.97601835T>C | CA595408728 | HOGA1 | c.701-22T>C (n.701-22T>C) c.111-22T>C c.212-22T>C (n.212-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601835T= | CA1930508498 | HOGA1 | c.701-22T= (n.701-22T=) c.111-22T= c.212-22T= (n.212-22T=) | |
10 | g.97601836T>A | CA595408729 | HOGA1 | c.701-21T>A (n.701-21T>A) c.111-21T>A c.212-21T>A (n.212-21T>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601836T>G | CA2574631726 | HOGA1 | c.701-21T>G (n.701-21T>G) c.111-21T>G c.212-21T>G (n.212-21T>G) | |
10 | g.97601836T= | CA1930508499 | HOGA1 | c.701-21T= (n.701-21T=) c.111-21T= c.212-21T= (n.212-21T=) | |
10 | g.97601837C>G | CA2740093494 | HOGA1 | c.701-20C>G (n.701-20C>G) c.111-20C>G c.212-20C>G (n.212-20C>G) | ClinVar |
10 | g.97601838T>C | CA5634213 | HOGA1 | c.701-19T>C (n.701-19T>C) c.111-19T>C c.212-19T>C (n.212-19T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601838T= | CA1930508502 | HOGA1 | c.701-19T= (n.701-19T=) c.111-19T= c.212-19T= (n.212-19T=) | |
10 | g.97601839G>A | CA2739275971 | HOGA1 | c.701-18G>A (n.701-18G>A) c.111-18G>A c.212-18G>A (n.212-18G>A) | ClinVar |
10 | g.97601839G>C | CA203933 | HOGA1 | c.701-18G>C (n.701-18G>C) c.111-18G>C c.212-18G>C (n.212-18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601839G= | CA1930508505 | HOGA1 | c.701-18G= (n.701-18G=) c.111-18G= c.212-18G= (n.212-18G=) | |
10 | g.97601840C= | CA1930508510 | HOGA1 | c.701-17C= (n.701-17C=) c.111-17C= c.212-17C= (n.212-17C=) | |
10 | g.97601840C>T | CA5634214 | HOGA1 | c.701-17C>T (n.701-17C>T) c.111-17C>T c.212-17C>T (n.212-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.97601841G>A | CA5634215 | HOGA1 | c.701-16G>A (n.701-16G>A) c.111-16G>A c.212-16G>A (n.212-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.97601841G= | CA1930508515 | HOGA1 | c.701-16G= (n.701-16G=) c.111-16G= c.212-16G= (n.212-16G=) | |
10 | g.97601841G>T | CA595408730 | HOGA1 | c.701-16G>T (n.701-16G>T) c.111-16G>T c.212-16G>T (n.212-16G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601842T>A | CA2610412842 | HOGA1 | c.701-15T>A (n.701-15T>A) c.111-15T>A c.212-15T>A (n.212-15T>A) | gnomAD v4 |
10 | g.97601842_97601846delinsTCTTA | CA1930508517 | HOGA1 | c.701-15_701-11delinsTCTTA (n.701-15_701-11delinsTCTTA) c.111-15_111-11delinsTCTTA c.212-15_212-11delinsTCTTA (n.212-15_212-11delinsTCTTA) | |
10 | g.97601846_97601849dup | CA5634216 | HOGA1 | c.701-11_701-8dup (n.701-11_701-8dup) c.111-11_111-8dup c.212-11_212-8dup (n.212-11_212-8dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601846_97601849del | CA5634217 | HOGA1 | c.701-11_701-8del (n.701-11_701-8del) c.111-11_111-8del c.212-11_212-8del (n.212-11_212-8del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601844T>G | CA595408731 | HOGA1 | c.701-13T>G (n.701-13T>G) c.111-13T>G c.212-13T>G (n.212-13T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601844T= | CA1930508529 | HOGA1 | c.701-13T= (n.701-13T=) c.111-13T= c.212-13T= (n.212-13T=) | |
10 | g.97601849T>C | CA2499220515 | HOGA1 | c.701-8T>C (n.701-8T>C) c.111-8T>C c.212-8T>C (n.212-8T>C) | ClinVar dbSNP |
10 | g.97601850C= | CA1930508535 | HOGA1 | c.701-7C= (n.701-7C=) c.111-7C= c.212-7C= (n.212-7C=) | |
10 | g.97601850C>T | CA5634218 | HOGA1 | c.701-7C>T (n.701-7C>T) c.111-7C>T c.212-7C>T (n.212-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601851G>A | CA670420725 | HOGA1 | c.701-6G>A (n.701-6G>A) c.111-6G>A c.212-6G>A (n.212-6G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.97601851G>C | CA595408732 | HOGA1 | c.701-6G>C (n.701-6G>C) c.111-6G>C c.212-6G>C (n.212-6G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601851G= | CA1930508541 | HOGA1 | c.701-6G= (n.701-6G=) c.111-6G= c.212-6G= (n.212-6G=) | |
10 | g.97601852T>C | CA5634219 | HOGA1 | c.701-5T>C (n.701-5T>C) c.111-5T>C c.212-5T>C (n.212-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601852T= | CA1930508547 | HOGA1 | c.701-5T= (n.701-5T=) c.111-5T= c.212-5T= (n.212-5T=) | |
10 | g.97601853G>T | CA2500997359 | HOGA1 | c.701-4G>T (n.701-4G>T) c.111-4G>T c.212-4G>T (n.212-4G>T) | |
10 | g.97601854C>T | CA2610412938 | HOGA1 | c.701-3C>T (n.701-3C>T) c.111-3C>T c.212-3C>T (n.212-3C>T) | gnomAD v4 |
10 | g.97601855A= | CA1930508553 | HOGA1 | c.701-2A= (n.701-2A=) c.111-2A= c.212-2A= (n.212-2A=) | |
10 | g.97601855A>C | CA377980808 | HOGA1 | c.701-2A>C (n.701-2A>C) c.111-2A>C c.212-2A>C (n.212-2A>C) | COSMIC |
10 | g.97601855A>G | CA5634220 | HOGA1 | c.701-2A>G (n.701-2A>G) c.111-2A>G c.212-2A>G (n.212-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601855A>T | CA377980810 | HOGA1 | c.701-2A>T (n.701-2A>T) c.111-2A>T c.212-2A>T (n.212-2A>T) | |
10 | g.97601856G>A | CA377980814 | HOGA1 | c.701-1G>A (n.701-1G>A) c.111-1G>A c.212-1G>A (n.212-1G>A) | gnomAD v4 |
10 | g.97601856G>C | CA377980811 | HOGA1 | c.701-1G>C (n.701-1G>C) c.111-1G>C c.212-1G>C (n.212-1G>C) | |
10 | g.97601856G>T | CA377980812 | HOGA1 | c.701-1G>T (n.701-1G>T) c.111-1G>T c.212-1G>T (n.212-1G>T) | |
10 | g.97601857G>A | CA377980817 | HOGA1 | c.701G>A (p.Gly234Glu) c.111G>A c.212G>A (p.Gly71Glu) | |
10 | g.97601857G>C | CA377980820 | HOGA1 | c.701G>C (p.Gly234Ala) c.111G>C c.212G>C (p.Gly71Ala) | |
10 | g.97601857G>T | CA377980823 | HOGA1 | c.701G>T (p.Gly234Val) c.111G>T c.212G>T (p.Gly71Val) | |
10 | g.97601858A>C | CA471092361 | HOGA1 | c.702A>C (p.Gly234=) c.112A>C c.213A>C (p.Gly71=) | |
10 | g.97601858A>G | CA471092360 | HOGA1 | c.702A>G (p.Gly234=) c.112A>G c.213A>G (p.Gly71=) | |
10 | g.97601858A>T | CA471092359 | HOGA1 | c.702A>T (p.Gly234=) c.112A>T c.213A>T (p.Gly71=) | |
10 | g.97601859G>A | CA5634221 | HOGA1 | c.703G>A (p.Ala235Thr) c.113G>A c.214G>A (p.Ala72Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601859G>C | CA377980838 | HOGA1 | c.703G>C (p.Ala235Pro) c.113G>C c.214G>C (p.Ala72Pro) | |
10 | g.97601859G= | CA1930508563 | HOGA1 | c.703G= (p.Ala235=) c.113G= c.214G= (p.Ala72=) | |
10 | g.97601859G>T | CA377980842 | HOGA1 | c.703G>T (p.Ala235Ser) c.113G>T c.214G>T (p.Ala72Ser) | |
10 | g.97601860C>A | CA377980851 | HOGA1 | c.704C>A (p.Ala235Asp) c.114C>A c.215C>A (p.Ala72Asp) | |
10 | g.97601860C>G | CA377980854 | HOGA1 | c.704C>G (p.Ala235Gly) c.114C>G c.215C>G (p.Ala72Gly) | |
10 | g.97601860C>T | CA377980857 | HOGA1 | c.704C>T (p.Ala235Val) c.114C>T c.215C>T (p.Ala72Val) | |
10 | g.97601861T>A | CA471092364 | HOGA1 | c.705T>A (p.Ala235=) c.115T>A c.216T>A (p.Ala72=) | |
10 | g.97601861T>C | CA471092363 | HOGA1 | c.705T>C (p.Ala235=) c.115T>C c.216T>C (p.Ala72=) | ClinVar |
10 | g.97601861T>G | CA471092362 | HOGA1 | c.705T>G (p.Ala235=) c.115T>G c.216T>G (p.Ala72=) | |
10 | g.97601863_97601864del | CA912970596 | HOGA1 | c.707_708del (p.Val236GlyfsTer?) c.117_118del c.218_219del (p.Val73GlyfsTer?) | |
10 | g.97601862G>A | CA377980864 | HOGA1 | c.706G>A (p.Val236Met) c.116G>A c.217G>A (p.Val73Met) | gnomAD v4 |
10 | g.97601862G>C | CA377980865 | HOGA1 | c.706G>C (p.Val236Leu) c.116G>C c.217G>C (p.Val73Leu) | dbSNP |
10 | g.97601862G= | CA1930508568 | HOGA1 | c.706G= (p.Val236=) c.116G= c.217G= (p.Val73=) | |
10 | g.97601862G>T | CA377980866 | HOGA1 | c.706G>T (p.Val236Leu) c.116G>T c.217G>T (p.Val73Leu) | |
10 | g.97601863T>A | CA377980870 | HOGA1 | c.707T>A (p.Val236Glu) c.117T>A c.218T>A (p.Val73Glu) | gnomAD v4 |
10 | g.97601863T>C | CA377980872 | HOGA1 | c.707T>C (p.Val236Ala) c.117T>C c.218T>C (p.Val73Ala) | |
10 | g.97601863T>G | CA377980867 | HOGA1 | c.707T>G (p.Val236Gly) c.117T>G c.218T>G (p.Val73Gly) | |
10 | g.97601863_97601864delinsTG | CA1930508573 | HOGA1 | c.707_708delinsTG (p.Val236=) c.117_118delinsTG c.218_219delinsTG (p.Val73=) | |
10 | g.97601864G>A | CA471092367 | HOGA1 | c.708G>A (p.Val236=) c.118G>A c.219G>A (p.Val73=) | ClinVar dbSNP gnomAD v4 |
10 | g.97601864G>C | CA471092366 | HOGA1 | c.708G>C (p.Val236=) c.118G>C c.219G>C (p.Val73=) | dbSNP gnomAD v4 |
10 | g.97601864G= | CA1930508593 | HOGA1 | c.708G= (p.Val236=) c.118G= c.219G= (p.Val73=) | |
10 | g.97601864G>T | CA5634223 | HOGA1 | c.708G>T (p.Val236=) c.118G>T c.219G>T (p.Val73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601869dup | CA5634222 | HOGA1 | c.713dup (p.Val239ArgfsTer?) c.123dup c.224dup (p.Val76ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.97601869del | CA471092365 | HOGA1 | c.713del (p.Gly238AlafsTer?) c.123del c.224del (p.Gly75AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.97601865G>A | CA5634224 | HOGA1 | c.709G>A (p.Gly237Arg) c.119G>A c.220G>A (p.Gly74Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601865G>C | CA377980885 | HOGA1 | c.709G>C (p.Gly237Arg) c.119G>C c.220G>C (p.Gly74Arg) | |
10 | g.97601865G= | CA1930508599 | HOGA1 | c.709G= (p.Gly237=) c.119G= c.220G= (p.Gly74=) | |
10 | g.97601865G>T | CA377980889 | HOGA1 | c.709G>T (p.Gly237Trp) c.119G>T c.220G>T (p.Gly74Trp) | |
10 | g.97601866G>A | CA377980902 | HOGA1 | c.710G>A (p.Gly237Glu) c.120G>A c.221G>A (p.Gly74Glu) | |
10 | g.97601866G>C | CA377980899 | HOGA1 | c.710G>C (p.Gly237Ala) c.120G>C c.221G>C (p.Gly74Ala) | |
10 | g.97601866G>T | CA377980893 | HOGA1 | c.710G>T (p.Gly237Val) c.120G>T c.221G>T (p.Gly74Val) | |
10 | g.97601867G>A | CA471092368 | HOGA1 | c.711G>A (p.Gly237=) c.121G>A c.222G>A (p.Gly74=) | |
10 | g.97601867G>C | CA471092369 | HOGA1 | c.711G>C (p.Gly237=) c.121G>C c.222G>C (p.Gly74=) | |
10 | g.97601867G>T | CA471092370 | HOGA1 | c.711G>T (p.Gly237=) c.121G>T c.222G>T (p.Gly74=) | |
10 | g.97601868G>A | CA377980906 | HOGA1 | c.712G>A (p.Gly238Ser) c.122G>A c.223G>A (p.Gly75Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601868G>C | CA5634225 | HOGA1 | c.712G>C (p.Gly238Arg) c.122G>C c.223G>C (p.Gly75Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.97601868G= | CA1930508606 | HOGA1 | c.712G= (p.Gly238=) c.122G= c.223G= (p.Gly75=) | |
10 | g.97601868G>T | CA377980910 | HOGA1 | c.712G>T (p.Gly238Cys) c.122G>T c.223G>T (p.Gly75Cys) | |
10 | g.97601869G>A | CA377980911 | HOGA1 | c.713G>A (p.Gly238Asp) c.123G>A c.224G>A (p.Gly75Asp) | gnomAD v4 |
10 | g.97601869G>C | CA377980912 | HOGA1 | c.713G>C (p.Gly238Ala) c.123G>C c.224G>C (p.Gly75Ala) | |
10 | g.97601869G>T | CA377980914 | HOGA1 | c.713G>T (p.Gly238Val) c.123G>T c.224G>T (p.Gly75Val) | |
10 | g.97601870C>A | CA471092371 | HOGA1 | c.714C>A (p.Gly238=) c.124C>A c.225C>A (p.Gly75=) | |
10 | g.97601870C= | CA1930508609 | HOGA1 | c.714C= (p.Gly238=) c.124C= c.225C= (p.Gly75=) | |
10 | g.97601870C>G | CA471092372 | HOGA1 | c.714C>G (p.Gly238=) c.124C>G c.225C>G (p.Gly75=) | gnomAD v4 |
10 | g.97601870C>T | CA5634226 | HOGA1 | c.714C>T (p.Gly238=) c.124C>T c.225C>T (p.Gly75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601871G>A | CA5634227 | HOGA1 | c.715G>A (p.Val239Ile) c.125G>A c.226G>A (p.Val76Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601871G>C | CA377980926 | HOGA1 | c.715G>C (p.Val239Leu) c.125G>C c.226G>C (p.Val76Leu) | |
10 | g.97601871G= | CA1930508617 | HOGA1 | c.715G= (p.Val239=) c.125G= c.226G= (p.Val76=) | |
10 | g.97601871G>T | CA377980925 | HOGA1 | c.715G>T (p.Val239Phe) c.125G>T c.226G>T (p.Val76Phe) | |
10 | g.97601872T>A | CA377980927 | HOGA1 | c.716T>A (p.Val239Asp) c.126T>A c.227T>A (p.Val76Asp) | |
10 | g.97601872T>C | CA377980928 | HOGA1 | c.716T>C (p.Val239Ala) c.126T>C c.227T>C (p.Val76Ala) | gnomAD v4 |
10 | g.97601872T>G | CA377980931 | HOGA1 | c.716T>G (p.Val239Gly) c.126T>G c.227T>G (p.Val76Gly) | |
10 | g.97601873C>A | CA471092375 | HOGA1 | c.717C>A (p.Val239=) c.127C>A c.228C>A (p.Val76=) | |
10 | g.97601873C>G | CA471092373 | HOGA1 | c.717C>G (p.Val239=) c.127C>G c.228C>G (p.Val76=) | |
10 | g.97601873C>T | CA471092374 | HOGA1 | c.717C>T (p.Val239=) c.127C>T c.228C>T (p.Val76=) | |
10 | g.97601874T>A | CA377980934 | HOGA1 | c.718T>A (p.Cys240Ser) c.128T>A c.229T>A (p.Cys77Ser) | gnomAD v4 |
10 | g.97601874T>C | CA377980939 | HOGA1 | c.718T>C (p.Cys240Arg) c.128T>C c.229T>C (p.Cys77Arg) | gnomAD v4 |
10 | g.97601874T>G | CA377980942 | HOGA1 | c.718T>G (p.Cys240Gly) c.128T>G c.229T>G (p.Cys77Gly) | |
10 | g.97601875G>A | CA377980953 | HOGA1 | c.719G>A (p.Cys240Tyr) c.129G>A c.230G>A (p.Cys77Tyr) | |
10 | g.97601875G>C | CA377980958 | HOGA1 | c.719G>C (p.Cys240Ser) c.129G>C c.230G>C (p.Cys77Ser) | |
10 | g.97601875G>T | CA377980960 | HOGA1 | c.719G>T (p.Cys240Phe) c.129G>T c.230G>T (p.Cys77Phe) | COSMIC COSMIC |
10 | g.97601876C>A | CA377980963 | HOGA1 | c.720C>A (p.Cys240Ter) c.130C>A c.231C>A (p.Cys77Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601876C= | CA1930508624 | HOGA1 | c.720C= (p.Cys240=) c.130C= c.231C= (p.Cys77=) | |
10 | g.97601876C>G | CA377980964 | HOGA1 | c.720C>G (p.Cys240Trp) c.130C>G c.231C>G (p.Cys77Trp) | |
10 | g.97601876C>T | CA5634228 | HOGA1 | c.720C>T (p.Cys240=) c.130C>T c.231C>T (p.Cys77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601877G>A | CA5634229 | HOGA1 | c.721G>A (p.Ala241Thr) c.131G>A c.232G>A (p.Ala78Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601877G>C | CA377980987 | HOGA1 | c.721G>C (p.Ala241Pro) c.131G>C c.232G>C (p.Ala78Pro) | |
10 | g.97601877G= | CA1930508626 | HOGA1 | c.721G= (p.Ala241=) c.131G= c.232G= (p.Ala78=) | |
10 | g.97601877G>T | CA377980985 | HOGA1 | c.721G>T (p.Ala241Ser) c.131G>T c.232G>T (p.Ala78Ser) | |
10 | g.97601878C>A | CA377980988 | HOGA1 | c.722C>A (p.Ala241Asp) c.132C>A c.233C>A (p.Ala78Asp) | gnomAD v4 |
10 | g.97601878C= | CA1930508634 | HOGA1 | c.722C= (p.Ala241=) c.132C= c.233C= (p.Ala78=) | |
10 | g.97601878C>G | CA377980989 | HOGA1 | c.722C>G (p.Ala241Gly) c.132C>G c.233C>G (p.Ala78Gly) | |
10 | g.97601878C>T | CA212675176 | HOGA1 | c.722C>T (p.Ala241Val) c.132C>T c.233C>T (p.Ala78Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.97601879C>A | CA471092377 | HOGA1 | c.723C>A (p.Ala241=) c.133C>A c.234C>A (p.Ala78=) | |
10 | g.97601879C>G | CA471092376 | HOGA1 | c.723C>G (p.Ala241=) c.133C>G c.234C>G (p.Ala78=) | |
10 | g.97601879C>T | CA471092378 | HOGA1 | c.723C>T (p.Ala241=) c.133C>T c.234C>T (p.Ala78=) | ClinVar dbSNP |
10 | g.97601880C>A | CA377980991 | HOGA1 | c.724C>A (p.Leu242Met) c.134C>A c.235C>A (p.Leu79Met) | |
10 | g.97601880C= | CA1930508637 | HOGA1 | c.724C= (p.Leu242=) c.134C= c.235C= (p.Leu79=) | |
10 | g.97601880C>G | CA377980993 | HOGA1 | c.724C>G (p.Leu242Val) c.134C>G c.235C>G (p.Leu79Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601880C>T | CA471092379 | HOGA1 | c.724C>T (p.Leu242=) c.134C>T c.235C>T (p.Leu79=) | |
10 | g.97601881T>A | CA377981000 | HOGA1 | c.725T>A (p.Leu242Gln) c.135T>A c.236T>A (p.Leu79Gln) | |
10 | g.97601881T>C | CA377980999 | HOGA1 | c.725T>C (p.Leu242Pro) c.135T>C c.236T>C (p.Leu79Pro) | |
10 | g.97601881T>G | CA377980998 | HOGA1 | c.725T>G (p.Leu242Arg) c.135T>G c.236T>G (p.Leu79Arg) | |
10 | g.97601882G>A | CA471092380 | HOGA1 | c.726G>A (p.Leu242=) c.136G>A c.237G>A (p.Leu79=) | |
10 | g.97601882G>C | CA471092381 | HOGA1 | c.726G>C (p.Leu242=) c.136G>C c.237G>C (p.Leu79=) | |
10 | g.97601882G>T | CA471092382 | HOGA1 | c.726G>T (p.Leu242=) c.136G>T c.237G>T (p.Leu79=) | |
10 | g.97601883G>A | CA377981001 | HOGA1 | c.727G>A (p.Ala243Thr) c.137G>A c.238G>A (p.Ala80Thr) | |
10 | g.97601883G>C | CA377981002 | HOGA1 | c.727G>C (p.Ala243Pro) c.137G>C c.238G>C (p.Ala80Pro) | |
10 | g.97601883G>T | CA377981003 | HOGA1 | c.727G>T (p.Ala243Ser) c.137G>T c.238G>T (p.Ala80Ser) | gnomAD v4 |
10 | g.97601884C>A | CA203957 | HOGA1 | c.728C>A (p.Ala243Asp) c.138C>A c.239C>A (p.Ala80Asp) | ClinVar dbSNP |
10 | g.97601884C= | CA1930508641 | HOGA1 | c.728C= (p.Ala243=) c.138C= c.239C= (p.Ala80=) | |
10 | g.97601884C>G | CA377981005 | HOGA1 | c.728C>G (p.Ala243Gly) c.138C>G c.239C>G (p.Ala80Gly) | |
10 | g.97601884C>T | CA377981007 | HOGA1 | c.728C>T (p.Ala243Val) c.138C>T c.239C>T (p.Ala80Val) | gnomAD v4 |
10 | g.97601885C>A | CA471092383 | HOGA1 | c.729C>A (p.Ala243=) c.139C>A c.240C>A (p.Ala80=) | |
10 | g.97601885C>G | CA471092384 | HOGA1 | c.729C>G (p.Ala243=) c.139C>G c.240C>G (p.Ala80=) | |
10 | g.97601885C>T | CA471092385 | HOGA1 | c.729C>T (p.Ala243=) c.139C>T c.240C>T (p.Ala80=) | |
10 | g.97601886A>C | CA377981008 | HOGA1 | c.730A>C (p.Asn244His) c.140A>C c.241A>C (p.Asn81His) | |
10 | g.97601886A>G | CA377981015 | HOGA1 | c.730A>G (p.Asn244Asp) c.140A>G c.241A>G (p.Asn81Asp) | |
10 | g.97601886A>T | CA377981012 | HOGA1 | c.730A>T (p.Asn244Tyr) c.140A>T c.241A>T (p.Asn81Tyr) | |
10 | g.97601887A= | CA1930508646 | HOGA1 | c.731A= (p.Asn244=) c.141A= c.242A= (p.Asn81=) | |
10 | g.97601887A>C | CA377981020 | HOGA1 | c.731A>C (p.Asn244Thr) c.141A>C c.242A>C (p.Asn81Thr) | |
10 | g.97601887A>G | CA377981022 | HOGA1 | c.731A>G (p.Asn244Ser) c.141A>G c.242A>G (p.Asn81Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601887A>T | CA377981024 | HOGA1 | c.731A>T (p.Asn244Ile) c.141A>T c.242A>T (p.Asn81Ile) | |
10 | g.97601888T>A | CA377981028 | HOGA1 | c.732T>A (p.Asn244Lys) c.142T>A c.243T>A (p.Asn81Lys) | |
10 | g.97601888T>C | CA5634230 | HOGA1 | c.732T>C (p.Asn244=) c.142T>C c.243T>C (p.Asn81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601888T>G | CA377981029 | HOGA1 | c.732T>G (p.Asn244Lys) c.142T>G c.243T>G (p.Asn81Lys) | |
10 | g.97601888T= | CA1930508652 | HOGA1 | c.732T= (p.Asn244=) c.142T= c.243T= (p.Asn81=) | |
10 | g.97601889G>A | CA203959 | HOGA1 | c.733G>A (p.Val245Ile) c.143G>A c.244G>A (p.Val82Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97601889G>C | CA377981033 | HOGA1 | c.733G>C (p.Val245Leu) c.143G>C c.244G>C (p.Val82Leu) | |
10 | g.97601889G= | CA1930508660 | HOGA1 | c.733G= (p.Val245=) c.143G= c.244G= (p.Val82=) | |
10 | g.97601889G>T | CA5634231 | HOGA1 | c.733G>T (p.Val245Phe) c.143G>T c.244G>T (p.Val82Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |