| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.24477104_24477121del | CA2641326707 | HRH4 | c.715_732del (p.Ser239_Val244del) c.451_468del (p.Ser151_Val156del) c.*347_*364del (n.*347_*364del) c.357+8153_357+8170del (n.357+8153_357+8170del) | gnomAD v4 |
| 18 | g.24477117A= | CA2290577694 | HRH4 | c.728A= (p.Glu243=) c.464A= (p.Glu155=) c.*360A= (n.*360A=) c.357+8166A= (n.357+8166A=) | |
| 18 | g.24477117A>C | CA402083351 | HRH4 | c.728A>C (p.Glu243Ala) c.464A>C (p.Glu155Ala) c.*360A>C (n.*360A>C) c.357+8166A>C (n.357+8166A>C) | |
| 18 | g.24477117A>G | CA8919867 | HRH4 | c.728A>G (p.Glu243Gly) c.464A>G (p.Glu155Gly) c.*360A>G (n.*360A>G) c.357+8166A>G (n.357+8166A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477117A>T | CA402083350 | HRH4 | c.728A>T (p.Glu243Val) c.464A>T (p.Glu155Val) c.*360A>T (n.*360A>T) c.357+8166A>T (n.357+8166A>T) | |
| 18 | g.24477118A= | CA2290577695 | HRH4 | c.729A= (p.Glu243=) c.465A= (p.Glu155=) c.*361A= (n.*361A=) c.357+8167A= (n.357+8167A=) | |
| 18 | g.24477118A>C | CA402083352 | HRH4 | c.729A>C (p.Glu243Asp) c.465A>C (p.Glu155Asp) c.*361A>C (n.*361A>C) c.357+8167A>C (n.357+8167A>C) | |
| 18 | g.24477118A>G | CA503523658 | HRH4 | c.729A>G (p.Glu243=) c.465A>G (p.Glu155=) c.*361A>G (n.*361A>G) c.357+8167A>G (n.357+8167A>G) | |
| 18 | g.24477118A>T | CA402083353 | HRH4 | c.729A>T (p.Glu243Asp) c.465A>T (p.Glu155Asp) c.*361A>T (n.*361A>T) c.357+8167A>T (n.357+8167A>T) | dbSNP gnomAD v2 |
| 18 | g.24477119G>A | CA402083354 | HRH4 | c.730G>A (p.Val244Ile) c.466G>A (p.Val156Ile) c.*362G>A (n.*362G>A) c.357+8168G>A (n.357+8168G>A) | |
| 18 | g.24477119G>C | CA402083355 | HRH4 | c.730G>C (p.Val244Leu) c.466G>C (p.Val156Leu) c.*362G>C (n.*362G>C) c.357+8168G>C (n.357+8168G>C) | |
| 18 | g.24477119G= | CA2290577696 | HRH4 | c.730G= (p.Val244=) c.466G= (p.Val156=) c.*362G= (n.*362G=) c.357+8168G= (n.357+8168G=) | |
| 18 | g.24477119G>T | CA402083356 | HRH4 | c.730G>T (p.Val244Phe) c.466G>T (p.Val156Phe) c.*362G>T (n.*362G>T) c.357+8168G>T (n.357+8168G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477120T>A | CA402083357 | HRH4 | c.731T>A (p.Val244Asp) c.467T>A (p.Val156Asp) c.*363T>A (n.*363T>A) c.357+8169T>A (n.357+8169T>A) | |
| 18 | g.24477120T>C | CA402083358 | HRH4 | c.731T>C (p.Val244Ala) c.467T>C (p.Val156Ala) c.*363T>C (n.*363T>C) c.357+8169T>C (n.357+8169T>C) | |
| 18 | g.24477120T>G | CA402083359 | HRH4 | c.731T>G (p.Val244Gly) c.467T>G (p.Val156Gly) c.*363T>G (n.*363T>G) c.357+8169T>G (n.357+8169T>G) | |
| 18 | g.24477121T>A | CA503523660 | HRH4 | c.732T>A (p.Val244=) c.468T>A (p.Val156=) c.*364T>A (n.*364T>A) c.357+8170T>A (n.357+8170T>A) | |
| 18 | g.24477121T>C | CA503523661 | HRH4 | c.732T>C (p.Val244=) c.468T>C (p.Val156=) c.*364T>C (n.*364T>C) c.357+8170T>C (n.357+8170T>C) | |
| 18 | g.24477121T>G | CA503523663 | HRH4 | c.732T>G (p.Val244=) c.468T>G (p.Val156=) c.*364T>G (n.*364T>G) c.357+8170T>G (n.357+8170T>G) | |
| 18 | g.24477122C>A | CA402083360 | HRH4 | c.733C>A (p.Pro245Thr) c.469C>A (p.Pro157Thr) c.*365C>A (n.*365C>A) c.357+8171C>A (n.357+8171C>A) | |
| 18 | g.24477122C>G | CA402083361 | HRH4 | c.733C>G (p.Pro245Ala) c.469C>G (p.Pro157Ala) c.*365C>G (n.*365C>G) c.357+8171C>G (n.357+8171C>G) | |
| 18 | g.24477122C>T | CA402083362 | HRH4 | c.733C>T (p.Pro245Ser) c.469C>T (p.Pro157Ser) c.*365C>T (n.*365C>T) c.357+8171C>T (n.357+8171C>T) | |
| 18 | g.24477123C>A | CA402083364 | HRH4 | c.734C>A (p.Pro245His) c.470C>A (p.Pro157His) c.*366C>A (n.*366C>A) c.357+8172C>A (n.357+8172C>A) | |
| 18 | g.24477123C>G | CA402083365 | HRH4 | c.734C>G (p.Pro245Arg) c.470C>G (p.Pro157Arg) c.*366C>G (n.*366C>G) c.357+8172C>G (n.357+8172C>G) | |
| 18 | g.24477123C>T | CA402083363 | HRH4 | c.734C>T (p.Pro245Leu) c.470C>T (p.Pro157Leu) c.*366C>T (n.*366C>T) c.357+8172C>T (n.357+8172C>T) | |
| 18 | g.24477124T>A | CA503523665 | HRH4 | c.735T>A (p.Pro245=) c.471T>A (p.Pro157=) c.*367T>A (n.*367T>A) c.357+8173T>A (n.357+8173T>A) | |
| 18 | g.24477124T>C | CA503523666 | HRH4 | c.735T>C (p.Pro245=) c.471T>C (p.Pro157=) c.*367T>C (n.*367T>C) c.357+8173T>C (n.357+8173T>C) | |
| 18 | g.24477124T>G | CA503523667 | HRH4 | c.735T>G (p.Pro245=) c.471T>G (p.Pro157=) c.*367T>G (n.*367T>G) c.357+8173T>G (n.357+8173T>G) | |
| 18 | g.24477125G>A | CA8919868 | HRH4 | c.736G>A (p.Ala246Thr) c.472G>A (p.Ala158Thr) c.*368G>A (n.*368G>A) c.357+8174G>A (n.357+8174G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.24477125G>C | CA402083366 | HRH4 | c.736G>C (p.Ala246Pro) c.472G>C (p.Ala158Pro) c.*368G>C (n.*368G>C) c.357+8174G>C (n.357+8174G>C) | |
| 18 | g.24477125G= | CA2290577697 | HRH4 | c.736G= (p.Ala246=) c.472G= (p.Ala158=) c.*368G= (n.*368G=) c.357+8174G= (n.357+8174G=) | |
| 18 | g.24477125G>T | CA402083367 | HRH4 | c.736G>T (p.Ala246Ser) c.472G>T (p.Ala158Ser) c.*368G>T (n.*368G>T) c.357+8174G>T (n.357+8174G>T) | |
| 18 | g.24477126C>A | CA402083368 | HRH4 | c.737C>A (p.Ala246Glu) c.473C>A (p.Ala158Glu) c.*369C>A (n.*369C>A) c.357+8175C>A (n.357+8175C>A) | |
| 18 | g.24477126C>G | CA402083369 | HRH4 | c.737C>G (p.Ala246Gly) c.473C>G (p.Ala158Gly) c.*369C>G (n.*369C>G) c.357+8175C>G (n.357+8175C>G) | |
| 18 | g.24477126C>T | CA402083370 | HRH4 | c.737C>T (p.Ala246Val) c.473C>T (p.Ala158Val) c.*369C>T (n.*369C>T) c.357+8175C>T (n.357+8175C>T) | |
| 18 | g.24477127A>C | CA503523671 | HRH4 | c.738A>C (p.Ala246=) c.474A>C (p.Ala158=) c.*370A>C (n.*370A>C) c.357+8176A>C (n.357+8176A>C) | |
| 18 | g.24477127A>G | CA503523672 | HRH4 | c.738A>G (p.Ala246=) c.474A>G (p.Ala158=) c.*370A>G (n.*370A>G) c.357+8176A>G (n.357+8176A>G) | |
| 18 | g.24477127A>T | CA503523673 | HRH4 | c.738A>T (p.Ala246=) c.474A>T (p.Ala158=) c.*370A>T (n.*370A>T) c.357+8176A>T (n.357+8176A>T) | |
| 18 | g.24477128T>A | CA402083371 | HRH4 | c.739T>A (p.Ser247Thr) c.475T>A (p.Ser159Thr) c.*371T>A (n.*371T>A) c.357+8177T>A (n.357+8177T>A) | |
| 18 | g.24477128T>C | CA402083372 | HRH4 | c.739T>C (p.Ser247Pro) c.475T>C (p.Ser159Pro) c.*371T>C (n.*371T>C) c.357+8177T>C (n.357+8177T>C) | |
| 18 | g.24477128T>G | CA402083373 | HRH4 | c.739T>G (p.Ser247Ala) c.475T>G (p.Ser159Ala) c.*371T>G (n.*371T>G) c.357+8177T>G (n.357+8177T>G) | gnomAD v4 |
| 18 | g.24477129C>A | CA402083374 | HRH4 | c.740C>A (p.Ser247Tyr) c.476C>A (p.Ser159Tyr) c.*372C>A (n.*372C>A) c.357+8178C>A (n.357+8178C>A) | |
| 18 | g.24477129C>G | CA402083375 | HRH4 | c.740C>G (p.Ser247Cys) c.476C>G (p.Ser159Cys) c.*372C>G (n.*372C>G) c.357+8178C>G (n.357+8178C>G) | gnomAD v4 |
| 18 | g.24477129C>T | CA402083376 | HRH4 | c.740C>T (p.Ser247Phe) c.476C>T (p.Ser159Phe) c.*372C>T (n.*372C>T) c.357+8178C>T (n.357+8178C>T) | |
| 18 | g.24477130C>A | CA503523674 | HRH4 | c.741C>A (p.Ser247=) c.477C>A (p.Ser159=) c.*373C>A (n.*373C>A) c.357+8179C>A (n.357+8179C>A) | |
| 18 | g.24477130C>G | CA503523675 | HRH4 | c.741C>G (p.Ser247=) c.477C>G (p.Ser159=) c.*373C>G (n.*373C>G) c.357+8179C>G (n.357+8179C>G) | |
| 18 | g.24477130C>T | CA503523676 | HRH4 | c.741C>T (p.Ser247=) c.477C>T (p.Ser159=) c.*373C>T (n.*373C>T) c.357+8179C>T (n.357+8179C>T) | |
| 18 | g.24477131T>A | CA402083379 | HRH4 | c.742T>A (p.Phe248Ile) c.478T>A (p.Phe160Ile) c.*374T>A (n.*374T>A) c.357+8180T>A (n.357+8180T>A) | |
| 18 | g.24477131T>C | CA402083378 | HRH4 | c.742T>C (p.Phe248Leu) c.478T>C (p.Phe160Leu) c.*374T>C (n.*374T>C) c.357+8180T>C (n.357+8180T>C) | dbSNP |
| 18 | g.24477131T>G | CA402083377 | HRH4 | c.742T>G (p.Phe248Val) c.478T>G (p.Phe160Val) c.*374T>G (n.*374T>G) c.357+8180T>G (n.357+8180T>G) | |
| 18 | g.24477132T>A | CA402083380 | HRH4 | c.743T>A (p.Phe248Tyr) c.479T>A (p.Phe160Tyr) c.*375T>A (n.*375T>A) c.357+8181T>A (n.357+8181T>A) | |
| 18 | g.24477132T>C | CA402083381 | HRH4 | c.743T>C (p.Phe248Ser) c.479T>C (p.Phe160Ser) c.*375T>C (n.*375T>C) c.357+8181T>C (n.357+8181T>C) | |
| 18 | g.24477132T>G | CA402083382 | HRH4 | c.743T>G (p.Phe248Cys) c.479T>G (p.Phe160Cys) c.*375T>G (n.*375T>G) c.357+8181T>G (n.357+8181T>G) | |
| 18 | g.24477133T>A | CA402083383 | HRH4 | c.744T>A (p.Phe248Leu) c.480T>A (p.Phe160Leu) c.*376T>A (n.*376T>A) c.357+8182T>A (n.357+8182T>A) | |
| 18 | g.24477133T>C | CA503523680 | HRH4 | c.744T>C (p.Phe248=) c.480T>C (p.Phe160=) c.*376T>C (n.*376T>C) c.357+8182T>C (n.357+8182T>C) | |
| 18 | g.24477133T>G | CA402083384 | HRH4 | c.744T>G (p.Phe248Leu) c.480T>G (p.Phe160Leu) c.*376T>G (n.*376T>G) c.357+8182T>G (n.357+8182T>G) | |
| 18 | g.24477134C>A | CA402083385 | HRH4 | c.745C>A (p.His249Asn) c.481C>A (p.His161Asn) c.*377C>A (n.*377C>A) c.357+8183C>A (n.357+8183C>A) | |
| 18 | g.24477134C>G | CA402083386 | HRH4 | c.745C>G (p.His249Asp) c.481C>G (p.His161Asp) c.*377C>G (n.*377C>G) c.357+8183C>G (n.357+8183C>G) | |
| 18 | g.24477134C>T | CA402083387 | HRH4 | c.745C>T (p.His249Tyr) c.481C>T (p.His161Tyr) c.*377C>T (n.*377C>T) c.357+8183C>T (n.357+8183C>T) | |
| 18 | g.24477135A>C | CA402083388 | HRH4 | c.746A>C (p.His249Pro) c.482A>C (p.His161Pro) c.*378A>C (n.*378A>C) c.357+8184A>C (n.357+8184A>C) | |
| 18 | g.24477135A>G | CA402083389 | HRH4 | c.746A>G (p.His249Arg) c.482A>G (p.His161Arg) c.*378A>G (n.*378A>G) c.357+8184A>G (n.357+8184A>G) | |
| 18 | g.24477135A>T | CA402083390 | HRH4 | c.746A>T (p.His249Leu) c.482A>T (p.His161Leu) c.*378A>T (n.*378A>T) c.357+8184A>T (n.357+8184A>T) | |
| 18 | g.24477136T>A | CA402083391 | HRH4 | c.747T>A (p.His249Gln) c.483T>A (p.His161Gln) c.*379T>A (n.*379T>A) c.357+8185T>A (n.357+8185T>A) | |
| 18 | g.24477136T>C | CA503523685 | HRH4 | c.747T>C (p.His249=) c.483T>C (p.His161=) c.*379T>C (n.*379T>C) c.357+8185T>C (n.357+8185T>C) | |
| 18 | g.24477136T>G | CA402083392 | HRH4 | c.747T>G (p.His249Gln) c.483T>G (p.His161Gln) c.*379T>G (n.*379T>G) c.357+8185T>G (n.357+8185T>G) | |
| 18 | g.24477137T>A | CA402083394 | HRH4 | c.748T>A (p.Ser250Thr) c.484T>A (p.Ser162Thr) c.*380T>A (n.*380T>A) c.357+8186T>A (n.357+8186T>A) | |
| 18 | g.24477137T>C | CA402083395 | HRH4 | c.748T>C (p.Ser250Pro) c.484T>C (p.Ser162Pro) c.*380T>C (n.*380T>C) c.357+8186T>C (n.357+8186T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477137T>G | CA402083393 | HRH4 | c.748T>G (p.Ser250Ala) c.484T>G (p.Ser162Ala) c.*380T>G (n.*380T>G) c.357+8186T>G (n.357+8186T>G) | |
| 18 | g.24477137T= | CA2290577698 | HRH4 | c.748T= (p.Ser250=) c.484T= (p.Ser162=) c.*380T= (n.*380T=) c.357+8186T= (n.357+8186T=) | |
| 18 | g.24477138C>A | CA402083396 | HRH4 | c.749C>A (p.Ser250Ter) c.485C>A (p.Ser162Ter) c.*381C>A (n.*381C>A) c.357+8187C>A (n.357+8187C>A) | |
| 18 | g.24477138C>G | CA402083397 | HRH4 | c.749C>G (p.Ser250Ter) c.485C>G (p.Ser162Ter) c.*381C>G (n.*381C>G) c.357+8187C>G (n.357+8187C>G) | |
| 18 | g.24477138C>T | CA402083398 | HRH4 | c.749C>T (p.Ser250Leu) c.485C>T (p.Ser162Leu) c.*381C>T (n.*381C>T) c.357+8187C>T (n.357+8187C>T) | |
| 18 | g.24477138_24477140delinsCAG | CA2290577699 | HRH4 | c.749_751delinsCAG (p.Ser250=) c.485_487delinsCAG (p.Ser162=) c.*381_*383delinsCAG (n.*381_*383delinsCAG) c.357+8187_357+8189delinsCAG (n.357+8187_357+8189delinsCAG) | |
| 18 | g.24477139A>C | CA503523691 | HRH4 | c.750A>C (p.Ser250=) c.486A>C (p.Ser162=) c.*382A>C (n.*382A>C) c.357+8188A>C (n.357+8188A>C) | |
| 18 | g.24477139A>G | CA503523689 | HRH4 | c.750A>G (p.Ser250=) c.486A>G (p.Ser162=) c.*382A>G (n.*382A>G) c.357+8188A>G (n.357+8188A>G) | |
| 18 | g.24477139A>T | CA503523690 | HRH4 | c.750A>T (p.Ser250=) c.486A>T (p.Ser162=) c.*382A>T (n.*382A>T) c.357+8188A>T (n.357+8188A>T) | |
| 18 | g.24477144_24477145del | CA8919869 | HRH4 | c.755_756del (p.Arg252ThrfsTer6) c.491_492del (p.Arg164ThrfsTer6) c.*387_*388del (n.*387_*388del) c.357+8193_357+8194del (n.357+8193_357+8194del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477140G>A | CA402083399 | HRH4 | c.751G>A (p.Glu251Lys) c.487G>A (p.Glu163Lys) c.*383G>A (n.*383G>A) c.357+8189G>A (n.357+8189G>A) | |
| 18 | g.24477140G>C | CA402083400 | HRH4 | c.751G>C (p.Glu251Gln) c.487G>C (p.Glu163Gln) c.*383G>C (n.*383G>C) c.357+8189G>C (n.357+8189G>C) | |
| 18 | g.24477140G= | CA2290577700 | HRH4 | c.751G= (p.Glu251=) c.487G= (p.Glu163=) c.*383G= (n.*383G=) c.357+8189G= (n.357+8189G=) | |
| 18 | g.24477140G>T | CA402083401 | HRH4 | c.751G>T (p.Glu251Ter) c.487G>T (p.Glu163Ter) c.*383G>T (n.*383G>T) c.357+8189G>T (n.357+8189G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477141A= | CA2290577701 | HRH4 | c.752A= (p.Glu251=) c.488A= (p.Glu163=) c.*384A= (n.*384A=) c.357+8190A= (n.357+8190A=) | |
| 18 | g.24477141A>C | CA8919870 | HRH4 | c.752A>C (p.Glu251Ala) c.488A>C (p.Glu163Ala) c.*384A>C (n.*384A>C) c.357+8190A>C (n.357+8190A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477141A>G | CA402083402 | HRH4 | c.752A>G (p.Glu251Gly) c.488A>G (p.Glu163Gly) c.*384A>G (n.*384A>G) c.357+8190A>G (n.357+8190A>G) | |
| 18 | g.24477141A>T | CA402083403 | HRH4 | c.752A>T (p.Glu251Val) c.488A>T (p.Glu163Val) c.*384A>T (n.*384A>T) c.357+8190A>T (n.357+8190A>T) | |
| 18 | g.24477142G>A | CA503523694 | HRH4 | c.753G>A (p.Glu251=) c.489G>A (p.Glu163=) c.*385G>A (n.*385G>A) c.357+8191G>A (n.357+8191G>A) | COSMIC |
| 18 | g.24477142G>C | CA402083404 | HRH4 | c.753G>C (p.Glu251Asp) c.489G>C (p.Glu163Asp) c.*385G>C (n.*385G>C) c.357+8191G>C (n.357+8191G>C) | |
| 18 | g.24477142G>T | CA402083405 | HRH4 | c.753G>T (p.Glu251Asp) c.489G>T (p.Glu163Asp) c.*385G>T (n.*385G>T) c.357+8191G>T (n.357+8191G>T) | |
| 18 | g.24477143A= | CA2290577702 | HRH4 | c.754A= (p.Arg252=) c.490A= (p.Arg164=) c.*386A= (n.*386A=) c.357+8192A= (n.357+8192A=) | |
| 18 | g.24477143A>C | CA503523697 | HRH4 | c.754A>C (p.Arg252=) c.490A>C (p.Arg164=) c.*386A>C (n.*386A>C) c.357+8192A>C (n.357+8192A>C) | |
| 18 | g.24477143A>G | CA8919871 | HRH4 | c.754A>G (p.Arg252Gly) c.490A>G (p.Arg164Gly) c.*386A>G (n.*386A>G) c.357+8192A>G (n.357+8192A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477143A>T | CA402083406 | HRH4 | c.754A>T (p.Arg252Ter) c.490A>T (p.Arg164Ter) c.*386A>T (n.*386A>T) c.357+8192A>T (n.357+8192A>T) | |
| 18 | g.24477144G>A | CA402083407 | HRH4 | c.755G>A (p.Arg252Lys) c.491G>A (p.Arg164Lys) c.*387G>A (n.*387G>A) c.357+8193G>A (n.357+8193G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477144G>C | CA402083409 | HRH4 | c.755G>C (p.Arg252Thr) c.491G>C (p.Arg164Thr) c.*387G>C (n.*387G>C) c.357+8193G>C (n.357+8193G>C) | dbSNP gnomAD v4 |
| 18 | g.24477144G= | CA2290577703 | HRH4 | c.755G= (p.Arg252=) c.491G= (p.Arg164=) c.*387G= (n.*387G=) c.357+8193G= (n.357+8193G=) | |
| 18 | g.24477144G>T | CA402083408 | HRH4 | c.755G>T (p.Arg252Ile) c.491G>T (p.Arg164Ile) c.*387G>T (n.*387G>T) c.357+8193G>T (n.357+8193G>T) | |
| 18 | g.24477145A>C | CA402083410 | HRH4 | c.756A>C (p.Arg252Ser) c.492A>C (p.Arg164Ser) c.*388A>C (n.*388A>C) c.357+8194A>C (n.357+8194A>C) | |
| 18 | g.24477145A>G | CA503523701 | HRH4 | c.756A>G (p.Arg252=) c.492A>G (p.Arg164=) c.*388A>G (n.*388A>G) c.357+8194A>G (n.357+8194A>G) | |
| 18 | g.24477145A>T | CA402083411 | HRH4 | c.756A>T (p.Arg252Ser) c.492A>T (p.Arg164Ser) c.*388A>T (n.*388A>T) c.357+8194A>T (n.357+8194A>T) | |
| 18 | g.24477146C>A | CA402083412 | HRH4 | c.757C>A (p.Gln253Lys) c.493C>A (p.Gln165Lys) c.*389C>A (n.*389C>A) c.357+8195C>A (n.357+8195C>A) | |
| 18 | g.24477146C= | CA2290577704 | HRH4 | c.757C= (p.Gln253=) c.493C= (p.Gln165=) c.*389C= (n.*389C=) c.357+8195C= (n.357+8195C=) | |
| 18 | g.24477146C>G | CA402083413 | HRH4 | c.757C>G (p.Gln253Glu) c.493C>G (p.Gln165Glu) c.*389C>G (n.*389C>G) c.357+8195C>G (n.357+8195C>G) | |
| 18 | g.24477146C>T | CA297156093 | HRH4 | c.757C>T (p.Gln253Ter) c.493C>T (p.Gln165Ter) c.*389C>T (n.*389C>T) c.357+8195C>T (n.357+8195C>T) | dbSNP |
| 18 | g.24477147A>C | CA402083414 | HRH4 | c.758A>C (p.Gln253Pro) c.494A>C (p.Gln165Pro) c.*390A>C (n.*390A>C) c.357+8196A>C (n.357+8196A>C) | |
| 18 | g.24477147A>G | CA402083415 | HRH4 | c.758A>G (p.Gln253Arg) c.494A>G (p.Gln165Arg) c.*390A>G (n.*390A>G) c.357+8196A>G (n.357+8196A>G) | |
| 18 | g.24477147A>T | CA402083416 | HRH4 | c.758A>T (p.Gln253Leu) c.494A>T (p.Gln165Leu) c.*390A>T (n.*390A>T) c.357+8196A>T (n.357+8196A>T) | |
| 18 | g.24477149_24477150del | CA2641326708 | HRH4 | c.760_761del (p.Arg254GlufsTer4) c.496_497del (p.Arg166GlufsTer4) c.*392_*393del (n.*392_*393del) c.357+8198_357+8199del (n.357+8198_357+8199del) | gnomAD v4 |
| 18 | g.24477148G>A | CA503523704 | HRH4 | c.759G>A (p.Gln253=) c.495G>A (p.Gln165=) c.*391G>A (n.*391G>A) c.357+8197G>A (n.357+8197G>A) | |
| 18 | g.24477148G>C | CA402083417 | HRH4 | c.759G>C (p.Gln253His) c.495G>C (p.Gln165His) c.*391G>C (n.*391G>C) c.357+8197G>C (n.357+8197G>C) | |
| 18 | g.24477148G>T | CA402083418 | HRH4 | c.759G>T (p.Gln253His) c.495G>T (p.Gln165His) c.*391G>T (n.*391G>T) c.357+8197G>T (n.357+8197G>T) | |
| 18 | g.24477149A>C | CA503523705 | HRH4 | c.760A>C (p.Arg254=) c.496A>C (p.Arg166=) c.*392A>C (n.*392A>C) c.357+8198A>C (n.357+8198A>C) | |
| 18 | g.24477149A>G | CA402083419 | HRH4 | c.760A>G (p.Arg254Gly) c.496A>G (p.Arg166Gly) c.*392A>G (n.*392A>G) c.357+8198A>G (n.357+8198A>G) | |
| 18 | g.24477149A>T | CA402083420 | HRH4 | c.760A>T (p.Arg254Trp) c.496A>T (p.Arg166Trp) c.*392A>T (n.*392A>T) c.357+8198A>T (n.357+8198A>T) | |
| 18 | g.24477150G>A | CA402083423 | HRH4 | c.761G>A (p.Arg254Lys) c.497G>A (p.Arg166Lys) c.*393G>A (n.*393G>A) c.357+8199G>A (n.357+8199G>A) | |
| 18 | g.24477150G>C | CA402083422 | HRH4 | c.761G>C (p.Arg254Thr) c.497G>C (p.Arg166Thr) c.*393G>C (n.*393G>C) c.357+8199G>C (n.357+8199G>C) | |
| 18 | g.24477150G>T | CA402083421 | HRH4 | c.761G>T (p.Arg254Met) c.497G>T (p.Arg166Met) c.*393G>T (n.*393G>T) c.357+8199G>T (n.357+8199G>T) | |
| 18 | g.24477151G>A | CA503523709 | HRH4 | c.762G>A (p.Arg254=) c.498G>A (p.Arg166=) c.*394G>A (n.*394G>A) c.357+8200G>A (n.357+8200G>A) | |
| 18 | g.24477151G>C | CA402083424 | HRH4 | c.762G>C (p.Arg254Ser) c.498G>C (p.Arg166Ser) c.*394G>C (n.*394G>C) c.357+8200G>C (n.357+8200G>C) | |
| 18 | g.24477151G>T | CA402083425 | HRH4 | c.762G>T (p.Arg254Ser) c.498G>T (p.Arg166Ser) c.*394G>T (n.*394G>T) c.357+8200G>T (n.357+8200G>T) | |
| 18 | g.24477152A>C | CA503523710 | HRH4 | c.763A>C (p.Arg255=) c.499A>C (p.Arg167=) c.*395A>C (n.*395A>C) c.357+8201A>C (n.357+8201A>C) | |
| 18 | g.24477152A>G | CA402083426 | HRH4 | c.763A>G (p.Arg255Gly) c.499A>G (p.Arg167Gly) c.*395A>G (n.*395A>G) c.357+8201A>G (n.357+8201A>G) | |
| 18 | g.24477152A>T | CA402083427 | HRH4 | c.763A>T (p.Arg255Ter) c.499A>T (p.Arg167Ter) c.*395A>T (n.*395A>T) c.357+8201A>T (n.357+8201A>T) | |
| 18 | g.24477153G>A | CA402083428 | HRH4 | c.764G>A (p.Arg255Lys) c.500G>A (p.Arg167Lys) c.*396G>A (n.*396G>A) c.357+8202G>A (n.357+8202G>A) | |
| 18 | g.24477153G>C | CA402083429 | HRH4 | c.764G>C (p.Arg255Thr) c.500G>C (p.Arg167Thr) c.*396G>C (n.*396G>C) c.357+8202G>C (n.357+8202G>C) | |
| 18 | g.24477153G>T | CA402083430 | HRH4 | c.764G>T (p.Arg255Ile) c.500G>T (p.Arg167Ile) c.*396G>T (n.*396G>T) c.357+8202G>T (n.357+8202G>T) | |
| 18 | g.24477154A>C | CA402083431 | HRH4 | c.765A>C (p.Arg255Ser) c.501A>C (p.Arg167Ser) c.*397A>C (n.*397A>C) c.357+8203A>C (n.357+8203A>C) | |
| 18 | g.24477154A>G | CA503523712 | HRH4 | c.765A>G (p.Arg255=) c.501A>G (p.Arg167=) c.*397A>G (n.*397A>G) c.357+8203A>G (n.357+8203A>G) | dbSNP |
| 18 | g.24477154A>T | CA402083432 | HRH4 | c.765A>T (p.Arg255Ser) c.501A>T (p.Arg167Ser) c.*397A>T (n.*397A>T) c.357+8203A>T (n.357+8203A>T) | |
| 18 | g.24477155A>C | CA402083433 | HRH4 | c.766A>C (p.Lys256Gln) c.502A>C (p.Lys168Gln) c.*398A>C (n.*398A>C) c.357+8204A>C (n.357+8204A>C) | gnomAD v4 |
| 18 | g.24477155A>G | CA402083434 | HRH4 | c.766A>G (p.Lys256Glu) c.502A>G (p.Lys168Glu) c.*398A>G (n.*398A>G) c.357+8204A>G (n.357+8204A>G) | |
| 18 | g.24477155A>T | CA402083435 | HRH4 | c.766A>T (p.Lys256Ter) c.502A>T (p.Lys168Ter) c.*398A>T (n.*398A>T) c.357+8204A>T (n.357+8204A>T) | |
| 18 | g.24477156A= | CA2290577705 | HRH4 | c.767A= (p.Lys256=) c.503A= (p.Lys168=) c.*399A= (n.*399A=) c.357+8205A= (n.357+8205A=) | |
| 18 | g.24477156A>C | CA402083436 | HRH4 | c.767A>C (p.Lys256Thr) c.503A>C (p.Lys168Thr) c.*399A>C (n.*399A>C) c.357+8205A>C (n.357+8205A>C) | gnomAD v4 |
| 18 | g.24477156A>G | CA402083437 | HRH4 | c.767A>G (p.Lys256Arg) c.503A>G (p.Lys168Arg) c.*399A>G (n.*399A>G) c.357+8205A>G (n.357+8205A>G) | dbSNP |
| 18 | g.24477156A>T | CA402083438 | HRH4 | c.767A>T (p.Lys256Met) c.503A>T (p.Lys168Met) c.*399A>T (n.*399A>T) c.357+8205A>T (n.357+8205A>T) | |
| 18 | g.24477157G>A | CA503523716 | HRH4 | c.768G>A (p.Lys256=) c.504G>A (p.Lys168=) c.*400G>A (n.*400G>A) c.357+8206G>A (n.357+8206G>A) | |
| 18 | g.24477157G>C | CA402083440 | HRH4 | c.768G>C (p.Lys256Asn) c.504G>C (p.Lys168Asn) c.*400G>C (n.*400G>C) c.357+8206G>C (n.357+8206G>C) | |
| 18 | g.24477157G>T | CA402083439 | HRH4 | c.768G>T (p.Lys256Asn) c.504G>T (p.Lys168Asn) c.*400G>T (n.*400G>T) c.357+8206G>T (n.357+8206G>T) | COSMIC |
| 18 | g.24477158A= | CA2290577706 | HRH4 | c.769A= (p.Ser257=) c.505A= (p.Ser169=) c.*401A= (n.*401A=) c.357+8207A= (n.357+8207A=) | |
| 18 | g.24477158A>C | CA402083441 | HRH4 | c.769A>C (p.Ser257Arg) c.505A>C (p.Ser169Arg) c.*401A>C (n.*401A>C) c.357+8207A>C (n.357+8207A>C) | |
| 18 | g.24477158A>G | CA297156098 | HRH4 | c.769A>G (p.Ser257Gly) c.505A>G (p.Ser169Gly) c.*401A>G (n.*401A>G) c.357+8207A>G (n.357+8207A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477158A>T | CA402083442 | HRH4 | c.769A>T (p.Ser257Cys) c.505A>T (p.Ser169Cys) c.*401A>T (n.*401A>T) c.357+8207A>T (n.357+8207A>T) | |
| 18 | g.24477159G>A | CA402083443 | HRH4 | c.770G>A (p.Ser257Asn) c.506G>A (p.Ser169Asn) c.*402G>A (n.*402G>A) c.357+8208G>A (n.357+8208G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477159G>C | CA402083444 | HRH4 | c.770G>C (p.Ser257Thr) c.506G>C (p.Ser169Thr) c.*402G>C (n.*402G>C) c.357+8208G>C (n.357+8208G>C) | |
| 18 | g.24477159G= | CA2290577707 | HRH4 | c.770G= (p.Ser257=) c.506G= (p.Ser169=) c.*402G= (n.*402G=) c.357+8208G= (n.357+8208G=) | |
| 18 | g.24477159G>T | CA402083445 | HRH4 | c.770G>T (p.Ser257Ile) c.506G>T (p.Ser169Ile) c.*402G>T (n.*402G>T) c.357+8208G>T (n.357+8208G>T) | |
| 18 | g.24477160T>A | CA402083446 | HRH4 | c.771T>A (p.Ser257Arg) c.507T>A (p.Ser169Arg) c.*403T>A (n.*403T>A) c.357+8209T>A (n.357+8209T>A) | |
| 18 | g.24477160T>C | CA503523720 | HRH4 | c.771T>C (p.Ser257=) c.507T>C (p.Ser169=) c.*403T>C (n.*403T>C) c.357+8209T>C (n.357+8209T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477160T>G | CA402083447 | HRH4 | c.771T>G (p.Ser257Arg) c.507T>G (p.Ser169Arg) c.*403T>G (n.*403T>G) c.357+8209T>G (n.357+8209T>G) | |
| 18 | g.24477160T= | CA2290577708 | HRH4 | c.771T= (p.Ser257=) c.507T= (p.Ser169=) c.*403T= (n.*403T=) c.357+8209T= (n.357+8209T=) | |
| 18 | g.24477161A>C | CA402083448 | HRH4 | c.772A>C (p.Ser258Arg) c.508A>C (p.Ser170Arg) c.*404A>C (n.*404A>C) c.357+8210A>C (n.357+8210A>C) | |
| 18 | g.24477161A>G | CA402083449 | HRH4 | c.772A>G (p.Ser258Gly) c.508A>G (p.Ser170Gly) c.*404A>G (n.*404A>G) c.357+8210A>G (n.357+8210A>G) | |
| 18 | g.24477161A>T | CA402083450 | HRH4 | c.772A>T (p.Ser258Cys) c.508A>T (p.Ser170Cys) c.*404A>T (n.*404A>T) c.357+8210A>T (n.357+8210A>T) | |
| 18 | g.24477162G>A | CA402083451 | HRH4 | c.773G>A (p.Ser258Asn) c.509G>A (p.Ser170Asn) c.*405G>A (n.*405G>A) c.357+8211G>A (n.357+8211G>A) | |
| 18 | g.24477162G>C | CA402083452 | HRH4 | c.773G>C (p.Ser258Thr) c.509G>C (p.Ser170Thr) c.*405G>C (n.*405G>C) c.357+8211G>C (n.357+8211G>C) | |
| 18 | g.24477162G>T | CA402083453 | HRH4 | c.773G>T (p.Ser258Ile) c.509G>T (p.Ser170Ile) c.*405G>T (n.*405G>T) c.357+8211G>T (n.357+8211G>T) | |
| 18 | g.24477163T>A | CA402083455 | HRH4 | c.774T>A (p.Ser258Arg) c.510T>A (p.Ser170Arg) c.*406T>A (n.*406T>A) c.357+8212T>A (n.357+8212T>A) | |
| 18 | g.24477163T>C | CA503523722 | HRH4 | c.774T>C (p.Ser258=) c.510T>C (p.Ser170=) c.*406T>C (n.*406T>C) c.357+8212T>C (n.357+8212T>C) | |
| 18 | g.24477163T>G | CA402083454 | HRH4 | c.774T>G (p.Ser258Arg) c.510T>G (p.Ser170Arg) c.*406T>G (n.*406T>G) c.357+8212T>G (n.357+8212T>G) | |
| 18 | g.24477164C>A | CA402083456 | HRH4 | c.775C>A (p.Leu259Ile) c.511C>A (p.Leu171Ile) c.*407C>A (n.*407C>A) c.357+8213C>A (n.357+8213C>A) | |
| 18 | g.24477164C>G | CA402083457 | HRH4 | c.775C>G (p.Leu259Val) c.511C>G (p.Leu171Val) c.*407C>G (n.*407C>G) c.357+8213C>G (n.357+8213C>G) | |
| 18 | g.24477164C>T | CA402083458 | HRH4 | c.775C>T (p.Leu259Phe) c.511C>T (p.Leu171Phe) c.*407C>T (n.*407C>T) c.357+8213C>T (n.357+8213C>T) | |
| 18 | g.24477165T>A | CA402083459 | HRH4 | c.776T>A (p.Leu259His) c.512T>A (p.Leu171His) c.*408T>A (n.*408T>A) c.357+8214T>A (n.357+8214T>A) | |
| 18 | g.24477165T>C | CA402083460 | HRH4 | c.776T>C (p.Leu259Pro) c.512T>C (p.Leu171Pro) c.*408T>C (n.*408T>C) c.357+8214T>C (n.357+8214T>C) | |
| 18 | g.24477165T>G | CA402083461 | HRH4 | c.776T>G (p.Leu259Arg) c.512T>G (p.Leu171Arg) c.*408T>G (n.*408T>G) c.357+8214T>G (n.357+8214T>G) | |
| 18 | g.24477166C>A | CA503523723 | HRH4 | c.777C>A (p.Leu259=) c.513C>A (p.Leu171=) c.*409C>A (n.*409C>A) c.357+8215C>A (n.357+8215C>A) | |
| 18 | g.24477166C>G | CA503523724 | HRH4 | c.777C>G (p.Leu259=) c.513C>G (p.Leu171=) c.*409C>G (n.*409C>G) c.357+8215C>G (n.357+8215C>G) | |
| 18 | g.24477166C>T | CA503523725 | HRH4 | c.777C>T (p.Leu259=) c.513C>T (p.Leu171=) c.*409C>T (n.*409C>T) c.357+8215C>T (n.357+8215C>T) | COSMIC |
| 18 | g.24477167A= | CA2290577709 | HRH4 | c.778A= (p.Met260=) c.514A= (p.Met172=) c.*410A= (n.*410A=) c.357+8216A= (n.357+8216A=) | |
| 18 | g.24477167A>C | CA402083462 | HRH4 | c.778A>C (p.Met260Leu) c.514A>C (p.Met172Leu) c.*410A>C (n.*410A>C) c.357+8216A>C (n.357+8216A>C) | |
| 18 | g.24477167A>G | CA8919872 | HRH4 | c.778A>G (p.Met260Val) c.514A>G (p.Met172Val) c.*410A>G (n.*410A>G) c.357+8216A>G (n.357+8216A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477167A>T | CA402083463 | HRH4 | c.778A>T (p.Met260Leu) c.514A>T (p.Met172Leu) c.*410A>T (n.*410A>T) c.357+8216A>T (n.357+8216A>T) | |
| 18 | g.24477168T>A | CA402083464 | HRH4 | c.779T>A (p.Met260Lys) c.515T>A (p.Met172Lys) c.*411T>A (n.*411T>A) c.357+8217T>A (n.357+8217T>A) | |
| 18 | g.24477168T>C | CA8919874 | HRH4 | c.779T>C (p.Met260Thr) c.515T>C (p.Met172Thr) c.*411T>C (n.*411T>C) c.357+8217T>C (n.357+8217T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477168T>G | CA402083465 | HRH4 | c.779T>G (p.Met260Arg) c.515T>G (p.Met172Arg) c.*411T>G (n.*411T>G) c.357+8217T>G (n.357+8217T>G) | |
| 18 | g.24477168T= | CA2290577710 | HRH4 | c.779T= (p.Met260=) c.515T= (p.Met172=) c.*411T= (n.*411T=) c.357+8217T= (n.357+8217T=) | |
| 18 | g.24477169_24477170dup | CA8919873 | HRH4 | c.780_781dup (p.Phe261CysfsTer8) c.516_517dup (p.Phe173CysfsTer8) c.*412_*413dup (n.*412_*413dup) c.357+8218_357+8219dup (n.357+8218_357+8219dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477169G>A | CA402083468 | HRH4 | c.780G>A (p.Met260Ile) c.516G>A (p.Met172Ile) c.*412G>A (n.*412G>A) c.357+8218G>A (n.357+8218G>A) | |
| 18 | g.24477169G>C | CA402083467 | HRH4 | c.780G>C (p.Met260Ile) c.516G>C (p.Met172Ile) c.*412G>C (n.*412G>C) c.357+8218G>C (n.357+8218G>C) | |
| 18 | g.24477169G>T | CA402083466 | HRH4 | c.780G>T (p.Met260Ile) c.516G>T (p.Met172Ile) c.*412G>T (n.*412G>T) c.357+8218G>T (n.357+8218G>T) | |
| 18 | g.24477170T>A | CA402083469 | HRH4 | c.781T>A (p.Phe261Ile) c.517T>A (p.Phe173Ile) c.*413T>A (n.*413T>A) c.357+8219T>A (n.357+8219T>A) | |
| 18 | g.24477170T>C | CA8919875 | HRH4 | c.781T>C (p.Phe261Leu) c.517T>C (p.Phe173Leu) c.*413T>C (n.*413T>C) c.357+8219T>C (n.357+8219T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477170T>G | CA402083470 | HRH4 | c.781T>G (p.Phe261Val) c.517T>G (p.Phe173Val) c.*413T>G (n.*413T>G) c.357+8219T>G (n.357+8219T>G) | |
| 18 | g.24477170T= | CA2290577711 | HRH4 | c.781T= (p.Phe261=) c.517T= (p.Phe173=) c.*413T= (n.*413T=) c.357+8219T= (n.357+8219T=) | |
| 18 | g.24477171T>A | CA402083471 | HRH4 | c.782T>A (p.Phe261Tyr) c.518T>A (p.Phe173Tyr) c.*414T>A (n.*414T>A) c.357+8220T>A (n.357+8220T>A) | |
| 18 | g.24477171T>C | CA402083472 | HRH4 | c.782T>C (p.Phe261Ser) c.518T>C (p.Phe173Ser) c.*414T>C (n.*414T>C) c.357+8220T>C (n.357+8220T>C) | |
| 18 | g.24477171T>G | CA402083473 | HRH4 | c.782T>G (p.Phe261Cys) c.518T>G (p.Phe173Cys) c.*414T>G (n.*414T>G) c.357+8220T>G (n.357+8220T>G) | |
| 18 | g.24477172T>A | CA402083474 | HRH4 | c.783T>A (p.Phe261Leu) c.519T>A (p.Phe173Leu) c.*415T>A (n.*415T>A) c.357+8221T>A (n.357+8221T>A) | |
| 18 | g.24477172T>C | CA503523731 | HRH4 | c.783T>C (p.Phe261=) c.519T>C (p.Phe173=) c.*415T>C (n.*415T>C) c.357+8221T>C (n.357+8221T>C) | |
| 18 | g.24477172T>G | CA402083475 | HRH4 | c.783T>G (p.Phe261Leu) c.519T>G (p.Phe173Leu) c.*415T>G (n.*415T>G) c.357+8221T>G (n.357+8221T>G) | |
| 18 | g.24477173T>A | CA402083476 | HRH4 | c.784T>A (p.Ser262Thr) c.520T>A (p.Ser174Thr) c.*416T>A (n.*416T>A) c.357+8222T>A (n.357+8222T>A) | |
| 18 | g.24477173T>C | CA402083477 | HRH4 | c.784T>C (p.Ser262Pro) c.520T>C (p.Ser174Pro) c.*416T>C (n.*416T>C) c.357+8222T>C (n.357+8222T>C) | |
| 18 | g.24477173T>G | CA402083478 | HRH4 | c.784T>G (p.Ser262Ala) c.520T>G (p.Ser174Ala) c.*416T>G (n.*416T>G) c.357+8222T>G (n.357+8222T>G) | |
| 18 | g.24477174C>A | CA402083479 | HRH4 | c.785C>A (p.Ser262Tyr) c.521C>A (p.Ser174Tyr) c.*417C>A (n.*417C>A) c.357+8223C>A (n.357+8223C>A) | |
| 18 | g.24477174C= | CA2290577712 | HRH4 | c.785C= (p.Ser262=) c.521C= (p.Ser174=) c.*417C= (n.*417C=) c.357+8223C= (n.357+8223C=) | |
| 18 | g.24477174C>G | CA8919876 | HRH4 | c.785C>G (p.Ser262Cys) c.521C>G (p.Ser174Cys) c.*417C>G (n.*417C>G) c.357+8223C>G (n.357+8223C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477174C>T | CA402083480 | HRH4 | c.785C>T (p.Ser262Phe) c.521C>T (p.Ser174Phe) c.*417C>T (n.*417C>T) c.357+8223C>T (n.357+8223C>T) | gnomAD v4 |
| 18 | g.24477175C>A | CA503523734 | HRH4 | c.786C>A (p.Ser262=) c.522C>A (p.Ser174=) c.*418C>A (n.*418C>A) c.357+8224C>A (n.357+8224C>A) | |
| 18 | g.24477175C>G | CA503523733 | HRH4 | c.786C>G (p.Ser262=) c.522C>G (p.Ser174=) c.*418C>G (n.*418C>G) c.357+8224C>G (n.357+8224C>G) | |
| 18 | g.24477175C>T | CA503523736 | HRH4 | c.786C>T (p.Ser262=) c.522C>T (p.Ser174=) c.*418C>T (n.*418C>T) c.357+8224C>T (n.357+8224C>T) | |
| 18 | g.24477176T>A | CA402083482 | HRH4 | c.787T>A (p.Ser263Thr) c.523T>A (p.Ser175Thr) c.*419T>A (n.*419T>A) c.357+8225T>A (n.357+8225T>A) | |
| 18 | g.24477176T>C | CA402083483 | HRH4 | c.787T>C (p.Ser263Pro) c.523T>C (p.Ser175Pro) c.*419T>C (n.*419T>C) c.357+8225T>C (n.357+8225T>C) | |
| 18 | g.24477176T>G | CA402083481 | HRH4 | c.787T>G (p.Ser263Ala) c.523T>G (p.Ser175Ala) c.*419T>G (n.*419T>G) c.357+8225T>G (n.357+8225T>G) | |
| 18 | g.24477176_24477177delinsTC | CA2290577713 | HRH4 | c.787_788delinsTC (p.Ser263=) c.523_524delinsTC (p.Ser175=) c.*419_*420delinsTC (n.*419_*420delinsTC) c.357+8225_357+8226delinsTC (n.357+8225_357+8226delinsTC) | |
| 18 | g.24477177del | CA8919877 | HRH4 | c.788del (p.Ser263Ter) c.524del (p.Ser175Ter) c.*420del (n.*420del) c.357+8226del (n.357+8226del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477177C>A | CA402083484 | HRH4 | c.788C>A (p.Ser263Ter) c.524C>A (p.Ser175Ter) c.*420C>A (n.*420C>A) c.357+8226C>A (n.357+8226C>A) | |
| 18 | g.24477177C= | CA2290577714 | HRH4 | c.788C= (p.Ser263=) c.524C= (p.Ser175=) c.*420C= (n.*420C=) c.357+8226C= (n.357+8226C=) | |
| 18 | g.24477177C>G | CA402083485 | HRH4 | c.788C>G (p.Ser263Ter) c.524C>G (p.Ser175Ter) c.*420C>G (n.*420C>G) c.357+8226C>G (n.357+8226C>G) | dbSNP |
| 18 | g.24477177C>T | CA402083486 | HRH4 | c.788C>T (p.Ser263Leu) c.524C>T (p.Ser175Leu) c.*420C>T (n.*420C>T) c.357+8226C>T (n.357+8226C>T) | COSMIC |
| 18 | g.24477178A= | CA2290577715 | HRH4 | c.789A= (p.Ser263=) c.525A= (p.Ser175=) c.*421A= (n.*421A=) c.357+8227A= (n.357+8227A=) | |
| 18 | g.24477178A>C | CA503523741 | HRH4 | c.789A>C (p.Ser263=) c.525A>C (p.Ser175=) c.*421A>C (n.*421A>C) c.357+8227A>C (n.357+8227A>C) | |
| 18 | g.24477178A>G | CA297156110 | HRH4 | c.789A>G (p.Ser263=) c.525A>G (p.Ser175=) c.*421A>G (n.*421A>G) c.357+8227A>G (n.357+8227A>G) | dbSNP gnomAD v4 |
| 18 | g.24477178A>T | CA503523742 | HRH4 | c.789A>T (p.Ser263=) c.525A>T (p.Ser175=) c.*421A>T (n.*421A>T) c.357+8227A>T (n.357+8227A>T) | |
| 18 | g.24477179A>C | CA503523743 | HRH4 | c.790A>C (p.Arg264=) c.526A>C (p.Arg176=) c.*422A>C (n.*422A>C) c.357+8228A>C (n.357+8228A>C) | |
| 18 | g.24477179A>G | CA402083487 | HRH4 | c.790A>G (p.Arg264Gly) c.526A>G (p.Arg176Gly) c.*422A>G (n.*422A>G) c.357+8228A>G (n.357+8228A>G) | gnomAD v4 |
| 18 | g.24477179A>T | CA402083488 | HRH4 | c.790A>T (p.Arg264Ter) c.526A>T (p.Arg176Ter) c.*422A>T (n.*422A>T) c.357+8228A>T (n.357+8228A>T) | |
| 18 | g.24477180G>A | CA402083489 | HRH4 | c.791G>A (p.Arg264Lys) c.527G>A (p.Arg176Lys) c.*423G>A (n.*423G>A) c.357+8229G>A (n.357+8229G>A) | |
| 18 | g.24477180G>C | CA402083490 | HRH4 | c.791G>C (p.Arg264Thr) c.527G>C (p.Arg176Thr) c.*423G>C (n.*423G>C) c.357+8229G>C (n.357+8229G>C) | |
| 18 | g.24477180G= | CA2290577716 | HRH4 | c.791G= (p.Arg264=) c.527G= (p.Arg176=) c.*423G= (n.*423G=) c.357+8229G= (n.357+8229G=) | |
| 18 | g.24477180G>T | CA8919878 | HRH4 | c.791G>T (p.Arg264Ile) c.527G>T (p.Arg176Ile) c.*423G>T (n.*423G>T) c.357+8229G>T (n.357+8229G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477181A>C | CA402083491 | HRH4 | c.792A>C (p.Arg264Ser) c.528A>C (p.Arg176Ser) c.*424A>C (n.*424A>C) c.357+8230A>C (n.357+8230A>C) | |
| 18 | g.24477181A>G | CA503523745 | HRH4 | c.792A>G (p.Arg264=) c.528A>G (p.Arg176=) c.*424A>G (n.*424A>G) c.357+8230A>G (n.357+8230A>G) | |
| 18 | g.24477181A>T | CA402083492 | HRH4 | c.792A>T (p.Arg264Ser) c.528A>T (p.Arg176Ser) c.*424A>T (n.*424A>T) c.357+8230A>T (n.357+8230A>T) | |
| 18 | g.24477182A>C | CA402083493 | HRH4 | c.793A>C (p.Thr265Pro) c.529A>C (p.Thr177Pro) c.*425A>C (n.*425A>C) c.357+8231A>C (n.357+8231A>C) | |
| 18 | g.24477182A>G | CA402083494 | HRH4 | c.793A>G (p.Thr265Ala) c.529A>G (p.Thr177Ala) c.*425A>G (n.*425A>G) c.357+8231A>G (n.357+8231A>G) | |
| 18 | g.24477182A>T | CA402083495 | HRH4 | c.793A>T (p.Thr265Ser) c.529A>T (p.Thr177Ser) c.*425A>T (n.*425A>T) c.357+8231A>T (n.357+8231A>T) | |
| 18 | g.24477183C>A | CA402083498 | HRH4 | c.794C>A (p.Thr265Asn) c.530C>A (p.Thr177Asn) c.*426C>A (n.*426C>A) c.357+8232C>A (n.357+8232C>A) | |
| 18 | g.24477183C>G | CA402083496 | HRH4 | c.794C>G (p.Thr265Ser) c.530C>G (p.Thr177Ser) c.*426C>G (n.*426C>G) c.357+8232C>G (n.357+8232C>G) | |
| 18 | g.24477183C>T | CA402083497 | HRH4 | c.794C>T (p.Thr265Ile) c.530C>T (p.Thr177Ile) c.*426C>T (n.*426C>T) c.357+8232C>T (n.357+8232C>T) | |
| 18 | g.24477184C>A | CA503523749 | HRH4 | c.795C>A (p.Thr265=) c.531C>A (p.Thr177=) c.*427C>A (n.*427C>A) c.357+8233C>A (n.357+8233C>A) | |
| 18 | g.24477184C>G | CA503523750 | HRH4 | c.795C>G (p.Thr265=) c.531C>G (p.Thr177=) c.*427C>G (n.*427C>G) c.357+8233C>G (n.357+8233C>G) | |
| 18 | g.24477184C>T | CA503523751 | HRH4 | c.795C>T (p.Thr265=) c.531C>T (p.Thr177=) c.*427C>T (n.*427C>T) c.357+8233C>T (n.357+8233C>T) | |
| 18 | g.24477185A>C | CA402083499 | HRH4 | c.796A>C (p.Lys266Gln) c.532A>C (p.Lys178Gln) c.*428A>C (n.*428A>C) c.357+8234A>C (n.357+8234A>C) | |
| 18 | g.24477185A>G | CA402083500 | HRH4 | c.796A>G (p.Lys266Glu) c.532A>G (p.Lys178Glu) c.*428A>G (n.*428A>G) c.357+8234A>G (n.357+8234A>G) | |
| 18 | g.24477185A>T | CA402083501 | HRH4 | c.796A>T (p.Lys266Ter) c.532A>T (p.Lys178Ter) c.*428A>T (n.*428A>T) c.357+8234A>T (n.357+8234A>T) | |
| 18 | g.24477186A>C | CA402083502 | HRH4 | c.797A>C (p.Lys266Thr) c.533A>C (p.Lys178Thr) c.*429A>C (n.*429A>C) c.357+8235A>C (n.357+8235A>C) | |
| 18 | g.24477186A>G | CA402083503 | HRH4 | c.797A>G (p.Lys266Arg) c.533A>G (p.Lys178Arg) c.*429A>G (n.*429A>G) c.357+8235A>G (n.357+8235A>G) | gnomAD v4 |
| 18 | g.24477186A>T | CA402083504 | HRH4 | c.797A>T (p.Lys266Met) c.533A>T (p.Lys178Met) c.*429A>T (n.*429A>T) c.357+8235A>T (n.357+8235A>T) | gnomAD v4 |
| 18 | g.24477187G>A | CA503523754 | HRH4 | c.798G>A (p.Lys266=) c.534G>A (p.Lys178=) c.*430G>A (n.*430G>A) c.357+8236G>A (n.357+8236G>A) | |
| 18 | g.24477187G>C | CA402083505 | HRH4 | c.798G>C (p.Lys266Asn) c.534G>C (p.Lys178Asn) c.*430G>C (n.*430G>C) c.357+8236G>C (n.357+8236G>C) | |
| 18 | g.24477187G>T | CA402083506 | HRH4 | c.798G>T (p.Lys266Asn) c.534G>T (p.Lys178Asn) c.*430G>T (n.*430G>T) c.357+8236G>T (n.357+8236G>T) | |
| 18 | g.24477188A>C | CA402083507 | HRH4 | c.799A>C (p.Met267Leu) c.535A>C (p.Met179Leu) c.*431A>C (n.*431A>C) c.357+8237A>C (n.357+8237A>C) | |
| 18 | g.24477188A>G | CA402083508 | HRH4 | c.799A>G (p.Met267Val) c.535A>G (p.Met179Val) c.*431A>G (n.*431A>G) c.357+8237A>G (n.357+8237A>G) | |
| 18 | g.24477188A>T | CA402083509 | HRH4 | c.799A>T (p.Met267Leu) c.535A>T (p.Met179Leu) c.*431A>T (n.*431A>T) c.357+8237A>T (n.357+8237A>T) | |
| 18 | g.24477189T>A | CA8919880 | HRH4 | c.800T>A (p.Met267Lys) c.536T>A (p.Met179Lys) c.*432T>A (n.*432T>A) c.357+8238T>A (n.357+8238T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477189T>C | CA8919879 | HRH4 | c.800T>C (p.Met267Thr) c.536T>C (p.Met179Thr) c.*432T>C (n.*432T>C) c.357+8238T>C (n.357+8238T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477189T>G | CA402083510 | HRH4 | c.800T>G (p.Met267Arg) c.536T>G (p.Met179Arg) c.*432T>G (n.*432T>G) c.357+8238T>G (n.357+8238T>G) | |
| 18 | g.24477189T= | CA2290577717 | HRH4 | c.800T= (p.Met267=) c.536T= (p.Met179=) c.*432T= (n.*432T=) c.357+8238T= (n.357+8238T=) | |
| 18 | g.24477190G>A | CA402083511 | HRH4 | c.801G>A (p.Met267Ile) c.537G>A (p.Met179Ile) c.*433G>A (n.*433G>A) c.357+8239G>A (n.357+8239G>A) | |
| 18 | g.24477190G>C | CA402083512 | HRH4 | c.801G>C (p.Met267Ile) c.537G>C (p.Met179Ile) c.*433G>C (n.*433G>C) c.357+8239G>C (n.357+8239G>C) | |
| 18 | g.24477190G>T | CA402083513 | HRH4 | c.801G>T (p.Met267Ile) c.537G>T (p.Met179Ile) c.*433G>T (n.*433G>T) c.357+8239G>T (n.357+8239G>T) | |
| 18 | g.24477191A>C | CA402083514 | HRH4 | c.802A>C (p.Asn268His) c.538A>C (p.Asn180His) c.*434A>C (n.*434A>C) c.357+8240A>C (n.357+8240A>C) | |
| 18 | g.24477191A>G | CA402083515 | HRH4 | c.802A>G (p.Asn268Asp) c.538A>G (p.Asn180Asp) c.*434A>G (n.*434A>G) c.357+8240A>G (n.357+8240A>G) | gnomAD v4 |
| 18 | g.24477191A>T | CA402083516 | HRH4 | c.802A>T (p.Asn268Tyr) c.538A>T (p.Asn180Tyr) c.*434A>T (n.*434A>T) c.357+8240A>T (n.357+8240A>T) | |
| 18 | g.24477192A= | CA2290577718 | HRH4 | c.803A= (p.Asn268=) c.539A= (p.Asn180=) c.*435A= (n.*435A=) c.357+8241A= (n.357+8241A=) | |
| 18 | g.24477192A>C | CA402083517 | HRH4 | c.803A>C (p.Asn268Thr) c.539A>C (p.Asn180Thr) c.*435A>C (n.*435A>C) c.357+8241A>C (n.357+8241A>C) | |
| 18 | g.24477192A>G | CA402083518 | HRH4 | c.803A>G (p.Asn268Ser) c.539A>G (p.Asn180Ser) c.*435A>G (n.*435A>G) c.357+8241A>G (n.357+8241A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477192A>T | CA402083519 | HRH4 | c.803A>T (p.Asn268Ile) c.539A>T (p.Asn180Ile) c.*435A>T (n.*435A>T) c.357+8241A>T (n.357+8241A>T) | |
| 18 | g.24477193T>A | CA402083520 | HRH4 | c.804T>A (p.Asn268Lys) c.540T>A (p.Asn180Lys) c.*436T>A (n.*436T>A) c.357+8242T>A (n.357+8242T>A) | |
| 18 | g.24477193T>C | CA8919881 | HRH4 | c.804T>C (p.Asn268=) c.540T>C (p.Asn180=) c.*436T>C (n.*436T>C) c.357+8242T>C (n.357+8242T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477193T>G | CA402083521 | HRH4 | c.804T>G (p.Asn268Lys) c.540T>G (p.Asn180Lys) c.*436T>G (n.*436T>G) c.357+8242T>G (n.357+8242T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477193T= | CA2290577719 | HRH4 | c.804T= (p.Asn268=) c.540T= (p.Asn180=) c.*436T= (n.*436T=) c.357+8242T= (n.357+8242T=) | |
| 18 | g.24477194A>C | CA402083523 | HRH4 | c.805A>C (p.Ser269Arg) c.541A>C (p.Ser181Arg) c.*437A>C (n.*437A>C) c.357+8243A>C (n.357+8243A>C) | |
| 18 | g.24477194A>G | CA402083524 | HRH4 | c.805A>G (p.Ser269Gly) c.541A>G (p.Ser181Gly) c.*437A>G (n.*437A>G) c.357+8243A>G (n.357+8243A>G) | |
| 18 | g.24477194A>T | CA402083522 | HRH4 | c.805A>T (p.Ser269Cys) c.541A>T (p.Ser181Cys) c.*437A>T (n.*437A>T) c.357+8243A>T (n.357+8243A>T) | |
| 18 | g.24477195G>A | CA8919882 | HRH4 | c.806G>A (p.Ser269Asn) c.542G>A (p.Ser181Asn) c.*438G>A (n.*438G>A) c.357+8244G>A (n.357+8244G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477195G>C | CA402083525 | HRH4 | c.806G>C (p.Ser269Thr) c.542G>C (p.Ser181Thr) c.*438G>C (n.*438G>C) c.357+8244G>C (n.357+8244G>C) | |
| 18 | g.24477195G= | CA2290577720 | HRH4 | c.806G= (p.Ser269=) c.542G= (p.Ser181=) c.*438G= (n.*438G=) c.357+8244G= (n.357+8244G=) | |
| 18 | g.24477195G>T | CA402083526 | HRH4 | c.806G>T (p.Ser269Ile) c.542G>T (p.Ser181Ile) c.*438G>T (n.*438G>T) c.357+8244G>T (n.357+8244G>T) | |
| 18 | g.24477196C>A | CA402083527 | HRH4 | c.807C>A (p.Ser269Arg) c.543C>A (p.Ser181Arg) c.*439C>A (n.*439C>A) c.357+8245C>A (n.357+8245C>A) | |
| 18 | g.24477196C>G | CA402083528 | HRH4 | c.807C>G (p.Ser269Arg) c.543C>G (p.Ser181Arg) c.*439C>G (n.*439C>G) c.357+8245C>G (n.357+8245C>G) | |
| 18 | g.24477196C>T | CA503523763 | HRH4 | c.807C>T (p.Ser269=) c.543C>T (p.Ser181=) c.*439C>T (n.*439C>T) c.357+8245C>T (n.357+8245C>T) | |
| 18 | g.24477197A= | CA2290577721 | HRH4 | c.808A= (p.Asn270=) c.544A= (p.Asn182=) c.*440A= (n.*440A=) c.357+8246A= (n.357+8246A=) | |
| 18 | g.24477197A>C | CA402083531 | HRH4 | c.808A>C (p.Asn270His) c.544A>C (p.Asn182His) c.*440A>C (n.*440A>C) c.357+8246A>C (n.357+8246A>C) | |
| 18 | g.24477197A>G | CA402083529 | HRH4 | c.808A>G (p.Asn270Asp) c.544A>G (p.Asn182Asp) c.*440A>G (n.*440A>G) c.357+8246A>G (n.357+8246A>G) | dbSNP gnomAD v4 |
| 18 | g.24477197A>T | CA402083530 | HRH4 | c.808A>T (p.Asn270Tyr) c.544A>T (p.Asn182Tyr) c.*440A>T (n.*440A>T) c.357+8246A>T (n.357+8246A>T) | |
| 18 | g.24477198A>C | CA402083532 | HRH4 | c.809A>C (p.Asn270Thr) c.545A>C (p.Asn182Thr) c.*441A>C (n.*441A>C) c.357+8247A>C (n.357+8247A>C) | |
| 18 | g.24477198A>G | CA402083533 | HRH4 | c.809A>G (p.Asn270Ser) c.545A>G (p.Asn182Ser) c.*441A>G (n.*441A>G) c.357+8247A>G (n.357+8247A>G) | |
| 18 | g.24477198A>T | CA402083534 | HRH4 | c.809A>T (p.Asn270Ile) c.545A>T (p.Asn182Ile) c.*441A>T (n.*441A>T) c.357+8247A>T (n.357+8247A>T) | |
| 18 | g.24477199T>A | CA402083535 | HRH4 | c.810T>A (p.Asn270Lys) c.546T>A (p.Asn182Lys) c.*442T>A (n.*442T>A) c.357+8248T>A (n.357+8248T>A) | |
| 18 | g.24477199T>C | CA503523765 | HRH4 | c.810T>C (p.Asn270=) c.546T>C (p.Asn182=) c.*442T>C (n.*442T>C) c.357+8248T>C (n.357+8248T>C) | |
| 18 | g.24477199T>G | CA402083536 | HRH4 | c.810T>G (p.Asn270Lys) c.546T>G (p.Asn182Lys) c.*442T>G (n.*442T>G) c.357+8248T>G (n.357+8248T>G) | |
| 18 | g.24477200A= | CA2290577722 | HRH4 | c.811A= (p.Thr271=) c.547A= (p.Thr183=) c.*443A= (n.*443A=) c.357+8249A= (n.357+8249A=) | |
| 18 | g.24477200A>C | CA402083537 | HRH4 | c.811A>C (p.Thr271Pro) c.547A>C (p.Thr183Pro) c.*443A>C (n.*443A>C) c.357+8249A>C (n.357+8249A>C) | |
| 18 | g.24477200A>G | CA8919883 | HRH4 | c.811A>G (p.Thr271Ala) c.547A>G (p.Thr183Ala) c.*443A>G (n.*443A>G) c.357+8249A>G (n.357+8249A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477200A>T | CA402083538 | HRH4 | c.811A>T (p.Thr271Ser) c.547A>T (p.Thr183Ser) c.*443A>T (n.*443A>T) c.357+8249A>T (n.357+8249A>T) | |
| 18 | g.24477201C>A | CA402083539 | HRH4 | c.812C>A (p.Thr271Lys) c.548C>A (p.Thr183Lys) c.*444C>A (n.*444C>A) c.357+8250C>A (n.357+8250C>A) | |
| 18 | g.24477201C>G | CA402083541 | HRH4 | c.812C>G (p.Thr271Arg) c.548C>G (p.Thr183Arg) c.*444C>G (n.*444C>G) c.357+8250C>G (n.357+8250C>G) | |
| 18 | g.24477201C>T | CA402083540 | HRH4 | c.812C>T (p.Thr271Ile) c.548C>T (p.Thr183Ile) c.*444C>T (n.*444C>T) c.357+8250C>T (n.357+8250C>T) | gnomAD v4 |
| 18 | g.24477202A>C | CA503523768 | HRH4 | c.813A>C (p.Thr271=) c.549A>C (p.Thr183=) c.*445A>C (n.*445A>C) c.357+8251A>C (n.357+8251A>C) | |
| 18 | g.24477202A>G | CA503523770 | HRH4 | c.813A>G (p.Thr271=) c.549A>G (p.Thr183=) c.*445A>G (n.*445A>G) c.357+8251A>G (n.357+8251A>G) | |
| 18 | g.24477202A>T | CA503523771 | HRH4 | c.813A>T (p.Thr271=) c.549A>T (p.Thr183=) c.*445A>T (n.*445A>T) c.357+8251A>T (n.357+8251A>T) | |
| 18 | g.24477203A= | CA2290577723 | HRH4 | c.814A= (p.Ile272=) c.550A= (p.Ile184=) c.*446A= (n.*446A=) c.357+8252A= (n.357+8252A=) | |
| 18 | g.24477203A>C | CA402083542 | HRH4 | c.814A>C (p.Ile272Leu) c.550A>C (p.Ile184Leu) c.*446A>C (n.*446A>C) c.357+8252A>C (n.357+8252A>C) | |
| 18 | g.24477203A>G | CA402083544 | HRH4 | c.814A>G (p.Ile272Val) c.550A>G (p.Ile184Val) c.*446A>G (n.*446A>G) c.357+8252A>G (n.357+8252A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477203A>T | CA402083543 | HRH4 | c.814A>T (p.Ile272Phe) c.550A>T (p.Ile184Phe) c.*446A>T (n.*446A>T) c.357+8252A>T (n.357+8252A>T) | |
| 18 | g.24477204T>A | CA402083545 | HRH4 | c.815T>A (p.Ile272Asn) c.551T>A (p.Ile184Asn) c.*447T>A (n.*447T>A) c.357+8253T>A (n.357+8253T>A) | |
| 18 | g.24477204T>C | CA402083546 | HRH4 | c.815T>C (p.Ile272Thr) c.551T>C (p.Ile184Thr) c.*447T>C (n.*447T>C) c.357+8253T>C (n.357+8253T>C) | dbSNP |
| 18 | g.24477204T>G | CA402083547 | HRH4 | c.815T>G (p.Ile272Ser) c.551T>G (p.Ile184Ser) c.*447T>G (n.*447T>G) c.357+8253T>G (n.357+8253T>G) | |
| 18 | g.24477204T= | CA2290577724 | HRH4 | c.815T= (p.Ile272=) c.551T= (p.Ile184=) c.*447T= (n.*447T=) c.357+8253T= (n.357+8253T=) | |
| 18 | g.24477205T>A | CA503523774 | HRH4 | c.816T>A (p.Ile272=) c.552T>A (p.Ile184=) c.*448T>A (n.*448T>A) c.357+8254T>A (n.357+8254T>A) | |
| 18 | g.24477205T>C | CA503523776 | HRH4 | c.816T>C (p.Ile272=) c.552T>C (p.Ile184=) c.*448T>C (n.*448T>C) c.357+8254T>C (n.357+8254T>C) | |
| 18 | g.24477205T>G | CA402083548 | HRH4 | c.816T>G (p.Ile272Met) c.552T>G (p.Ile184Met) c.*448T>G (n.*448T>G) c.357+8254T>G (n.357+8254T>G) | |
| 18 | g.24477206del | CA2811837922 | HRH4 | c.817del (p.Ala273LeufsTer13) c.553del (p.Ala185LeufsTer13) c.*449del (n.*449del) c.357+8255del (n.357+8255del) | |
| 18 | g.24477206G>A | CA402083549 | HRH4 | c.817G>A (p.Ala273Thr) c.553G>A (p.Ala185Thr) c.*449G>A (n.*449G>A) c.357+8255G>A (n.357+8255G>A) | |
| 18 | g.24477206G>C | CA402083550 | HRH4 | c.817G>C (p.Ala273Pro) c.553G>C (p.Ala185Pro) c.*449G>C (n.*449G>C) c.357+8255G>C (n.357+8255G>C) | |
| 18 | g.24477206G= | CA2290577725 | HRH4 | c.817G= (p.Ala273=) c.553G= (p.Ala185=) c.*449G= (n.*449G=) c.357+8255G= (n.357+8255G=) | |
| 18 | g.24477206G>T | CA297156128 | HRH4 | c.817G>T (p.Ala273Ser) c.553G>T (p.Ala185Ser) c.*449G>T (n.*449G>T) c.357+8255G>T (n.357+8255G>T) | dbSNP gnomAD v4 COSMIC |
| 18 | g.24477207C>A | CA402083551 | HRH4 | c.818C>A (p.Ala273Asp) c.554C>A (p.Ala185Asp) c.*450C>A (n.*450C>A) c.357+8256C>A (n.357+8256C>A) | |
| 18 | g.24477207C>G | CA402083552 | HRH4 | c.818C>G (p.Ala273Gly) c.554C>G (p.Ala185Gly) c.*450C>G (n.*450C>G) c.357+8256C>G (n.357+8256C>G) | |
| 18 | g.24477207C>T | CA402083553 | HRH4 | c.818C>T (p.Ala273Val) c.554C>T (p.Ala185Val) c.*450C>T (n.*450C>T) c.357+8256C>T (n.357+8256C>T) | |
| 18 | g.24477208T>A | CA503523780 | HRH4 | c.819T>A (p.Ala273=) c.555T>A (p.Ala185=) c.*451T>A (n.*451T>A) c.357+8257T>A (n.357+8257T>A) | |
| 18 | g.24477208T>C | CA503523781 | HRH4 | c.819T>C (p.Ala273=) c.555T>C (p.Ala185=) c.*451T>C (n.*451T>C) c.357+8257T>C (n.357+8257T>C) | |
| 18 | g.24477208T>G | CA503523782 | HRH4 | c.819T>G (p.Ala273=) c.555T>G (p.Ala185=) c.*451T>G (n.*451T>G) c.357+8257T>G (n.357+8257T>G) | gnomAD v4 |
| 18 | g.24477209del | CA2576475331 | HRH4 | c.820del (p.Ser274ProfsTer12) c.556del (p.Ser186ProfsTer12) c.*452del (n.*452del) c.357+8258del (n.357+8258del) | |
| 18 | g.24477209T>A | CA402083556 | HRH4 | c.820T>A (p.Ser274Thr) c.556T>A (p.Ser186Thr) c.*452T>A (n.*452T>A) c.357+8258T>A (n.357+8258T>A) | |
| 18 | g.24477209T>C | CA402083555 | HRH4 | c.820T>C (p.Ser274Pro) c.556T>C (p.Ser186Pro) c.*452T>C (n.*452T>C) c.357+8258T>C (n.357+8258T>C) | |
| 18 | g.24477209T>G | CA402083554 | HRH4 | c.820T>G (p.Ser274Ala) c.556T>G (p.Ser186Ala) c.*452T>G (n.*452T>G) c.357+8258T>G (n.357+8258T>G) | dbSNP |
| 18 | g.24477210C>A | CA402083557 | HRH4 | c.821C>A (p.Ser274Tyr) c.557C>A (p.Ser186Tyr) c.*453C>A (n.*453C>A) c.357+8259C>A (n.357+8259C>A) | |
| 18 | g.24477210C>G | CA402083558 | HRH4 | c.821C>G (p.Ser274Cys) c.557C>G (p.Ser186Cys) c.*453C>G (n.*453C>G) c.357+8259C>G (n.357+8259C>G) | |
| 18 | g.24477210C>T | CA402083559 | HRH4 | c.821C>T (p.Ser274Phe) c.557C>T (p.Ser186Phe) c.*453C>T (n.*453C>T) c.357+8259C>T (n.357+8259C>T) | |
| 18 | g.24477211C>A | CA503523786 | HRH4 | c.822C>A (p.Ser274=) c.558C>A (p.Ser186=) c.*454C>A (n.*454C>A) c.357+8260C>A (n.357+8260C>A) | |
| 18 | g.24477211C>G | CA503523787 | HRH4 | c.822C>G (p.Ser274=) c.558C>G (p.Ser186=) c.*454C>G (n.*454C>G) c.357+8260C>G (n.357+8260C>G) | |
| 18 | g.24477211C>T | CA503523788 | HRH4 | c.822C>T (p.Ser274=) c.558C>T (p.Ser186=) c.*454C>T (n.*454C>T) c.357+8260C>T (n.357+8260C>T) | |
| 18 | g.24477212A>C | CA402083560 | HRH4 | c.823A>C (p.Lys275Gln) c.559A>C (p.Lys187Gln) c.*455A>C (n.*455A>C) c.357+8261A>C (n.357+8261A>C) | |
| 18 | g.24477212A>G | CA402083561 | HRH4 | c.823A>G (p.Lys275Glu) c.559A>G (p.Lys187Glu) c.*455A>G (n.*455A>G) c.357+8261A>G (n.357+8261A>G) | |
| 18 | g.24477212A>T | CA402083562 | HRH4 | c.823A>T (p.Lys275Ter) c.559A>T (p.Lys187Ter) c.*455A>T (n.*455A>T) c.357+8261A>T (n.357+8261A>T) | |
| 18 | g.24477213A>C | CA402083563 | HRH4 | c.824A>C (p.Lys275Thr) c.560A>C (p.Lys187Thr) c.*456A>C (n.*456A>C) c.357+8262A>C (n.357+8262A>C) | gnomAD v4 |
| 18 | g.24477213A>G | CA402083564 | HRH4 | c.824A>G (p.Lys275Arg) c.560A>G (p.Lys187Arg) c.*456A>G (n.*456A>G) c.357+8262A>G (n.357+8262A>G) | |
| 18 | g.24477213A>T | CA402083565 | HRH4 | c.824A>T (p.Lys275Ile) c.560A>T (p.Lys187Ile) c.*456A>T (n.*456A>T) c.357+8262A>T (n.357+8262A>T) | |
| 18 | g.24477214A>C | CA402083566 | HRH4 | c.825A>C (p.Lys275Asn) c.561A>C (p.Lys187Asn) c.*457A>C (n.*457A>C) c.357+8263A>C (n.357+8263A>C) | |
| 18 | g.24477214A>G | CA503523792 | HRH4 | c.825A>G (p.Lys275=) c.561A>G (p.Lys187=) c.*457A>G (n.*457A>G) c.357+8263A>G (n.357+8263A>G) | |
| 18 | g.24477214A>T | CA402083567 | HRH4 | c.825A>T (p.Lys275Asn) c.561A>T (p.Lys187Asn) c.*457A>T (n.*457A>T) c.357+8263A>T (n.357+8263A>T) | |
| 18 | g.24477215A>C | CA402083570 | HRH4 | c.826A>C (p.Met276Leu) c.562A>C (p.Met188Leu) c.*458A>C (n.*458A>C) c.357+8264A>C (n.357+8264A>C) | |
| 18 | g.24477215A>G | CA402083569 | HRH4 | c.826A>G (p.Met276Val) c.562A>G (p.Met188Val) c.*458A>G (n.*458A>G) c.357+8264A>G (n.357+8264A>G) | gnomAD v4 |
| 18 | g.24477215A>T | CA402083568 | HRH4 | c.826A>T (p.Met276Leu) c.562A>T (p.Met188Leu) c.*458A>T (n.*458A>T) c.357+8264A>T (n.357+8264A>T) | |
| 18 | g.24477215_24477216delinsAT | CA2290577726 | HRH4 | c.826_827delinsAT (p.Met276=) c.562_563delinsAT (p.Met188=) c.*458_*459delinsAT (n.*458_*459delinsAT) c.357+8264_357+8265delinsAT (n.357+8264_357+8265delinsAT) | |
| 18 | g.24477216del | CA297156133 | HRH4 | c.827del (p.Met276ArgfsTer10) c.563del (p.Met188ArgfsTer10) c.*459del (n.*459del) c.357+8265del (n.357+8265del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477216T>A | CA402083571 | HRH4 | c.827T>A (p.Met276Lys) c.563T>A (p.Met188Lys) c.*459T>A (n.*459T>A) c.357+8265T>A (n.357+8265T>A) | gnomAD v4 |
| 18 | g.24477216T>C | CA402083572 | HRH4 | c.827T>C (p.Met276Thr) c.563T>C (p.Met188Thr) c.*459T>C (n.*459T>C) c.357+8265T>C (n.357+8265T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477216T>G | CA8919884 | HRH4 | c.827T>G (p.Met276Arg) c.563T>G (p.Met188Arg) c.*459T>G (n.*459T>G) c.357+8265T>G (n.357+8265T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477216T= | CA2290577727 | HRH4 | c.827T= (p.Met276=) c.563T= (p.Met188=) c.*459T= (n.*459T=) c.357+8265T= (n.357+8265T=) | |
| 18 | g.24477217G>A | CA402083573 | HRH4 | c.828G>A (p.Met276Ile) c.564G>A (p.Met188Ile) c.*460G>A (n.*460G>A) c.357+8266G>A (n.357+8266G>A) | |
| 18 | g.24477217G>C | CA402083574 | HRH4 | c.828G>C (p.Met276Ile) c.564G>C (p.Met188Ile) c.*460G>C (n.*460G>C) c.357+8266G>C (n.357+8266G>C) | |
| 18 | g.24477217G>T | CA402083575 | HRH4 | c.828G>T (p.Met276Ile) c.564G>T (p.Met188Ile) c.*460G>T (n.*460G>T) c.357+8266G>T (n.357+8266G>T) | |
| 18 | g.24477217_24477218delinsTT | CA645600373 | HRH4 | c.828_829delinsTT (p.Met276_Gly277delinsIleCys) c.564_565delinsTT (p.Met188_Gly189delinsIleCys) c.*460_*461delinsTT (n.*460_*461delinsTT) c.357+8266_357+8267delinsTT (n.357+8266_357+8267delinsTT) | COSMIC |
| 18 | g.24477219del | CA503523796 | HRH4 | c.830del (p.Gly277ValfsTer9) c.566del (p.Gly189ValfsTer9) c.*462del (n.*462del) c.357+8268del (n.357+8268del) | gnomAD v4 COSMIC |