Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
18 | g.24477218G>A | CA402083576 | HRH4 | c.829G>A (p.Gly277Ser) c.565G>A (p.Gly189Ser) c.*461G>A (n.*461G>A) c.357+8267G>A (n.357+8267G>A) | |
18 | g.24477218G>C | CA402083577 | HRH4 | c.829G>C (p.Gly277Arg) c.565G>C (p.Gly189Arg) c.*461G>C (n.*461G>C) c.357+8267G>C (n.357+8267G>C) | gnomAD v4 |
18 | g.24477218G>T | CA402083578 | HRH4 | c.829G>T (p.Gly277Cys) c.565G>T (p.Gly189Cys) c.*461G>T (n.*461G>T) c.357+8267G>T (n.357+8267G>T) | |
18 | g.24477219G>A | CA402083579 | HRH4 | c.830G>A (p.Gly277Asp) c.566G>A (p.Gly189Asp) c.*462G>A (n.*462G>A) c.357+8268G>A (n.357+8268G>A) | |
18 | g.24477219G>C | CA402083580 | HRH4 | c.830G>C (p.Gly277Ala) c.566G>C (p.Gly189Ala) c.*462G>C (n.*462G>C) c.357+8268G>C (n.357+8268G>C) | |
18 | g.24477219G>T | CA402083581 | HRH4 | c.830G>T (p.Gly277Val) c.566G>T (p.Gly189Val) c.*462G>T (n.*462G>T) c.357+8268G>T (n.357+8268G>T) | |
18 | g.24477220T>A | CA503523798 | HRH4 | c.831T>A (p.Gly277=) c.567T>A (p.Gly189=) c.*463T>A (n.*463T>A) c.357+8269T>A (n.357+8269T>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.24477220T>C | CA503523799 | HRH4 | c.831T>C (p.Gly277=) c.567T>C (p.Gly189=) c.*463T>C (n.*463T>C) c.357+8269T>C (n.357+8269T>C) | |
18 | g.24477220T>G | CA503523800 | HRH4 | c.831T>G (p.Gly277=) c.567T>G (p.Gly189=) c.*463T>G (n.*463T>G) c.357+8269T>G (n.357+8269T>G) | |
18 | g.24477220T= | CA2290577729 | HRH4 | c.831T= (p.Gly277=) c.567T= (p.Gly189=) c.*463T= (n.*463T=) c.357+8269T= (n.357+8269T=) | |
18 | g.24477220_24477223delinsTTCC | CA2290577728 | HRH4 | c.831_834delinsTTCC (p.Gly277=) c.567_570delinsTTCC (p.Gly189=) c.*463_*466delinsTTCC (n.*463_*466delinsTTCC) c.357+8269_357+8272delinsTTCC (n.357+8269_357+8272delinsTTCC) | |
18 | g.24477221T>A | CA402083584 | HRH4 | c.832T>A (p.Ser278Thr) c.568T>A (p.Ser190Thr) c.*464T>A (n.*464T>A) c.357+8270T>A (n.357+8270T>A) | |
18 | g.24477221T>C | CA402083582 | HRH4 | c.832T>C (p.Ser278Pro) c.568T>C (p.Ser190Pro) c.*464T>C (n.*464T>C) c.357+8270T>C (n.357+8270T>C) | |
18 | g.24477221T>G | CA402083583 | HRH4 | c.832T>G (p.Ser278Ala) c.568T>G (p.Ser190Ala) c.*464T>G (n.*464T>G) c.357+8270T>G (n.357+8270T>G) | |
18 | g.24477222_24477224del | CA988428165 | HRH4 | c.833_835del (p.Ser278del) c.569_571del (p.Ser190del) c.*465_*467del (n.*465_*467del) c.357+8271_357+8273del (n.357+8271_357+8273del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.24477222C>A | CA402083585 | HRH4 | c.833C>A (p.Ser278Tyr) c.569C>A (p.Ser190Tyr) c.*465C>A (n.*465C>A) c.357+8271C>A (n.357+8271C>A) | |
18 | g.24477222C>G | CA402083586 | HRH4 | c.833C>G (p.Ser278Cys) c.569C>G (p.Ser190Cys) c.*465C>G (n.*465C>G) c.357+8271C>G (n.357+8271C>G) | |
18 | g.24477222C>T | CA402083587 | HRH4 | c.833C>T (p.Ser278Phe) c.569C>T (p.Ser190Phe) c.*465C>T (n.*465C>T) c.357+8271C>T (n.357+8271C>T) | |
18 | g.24477223C>A | CA503523804 | HRH4 | c.834C>A (p.Ser278=) c.570C>A (p.Ser190=) c.*466C>A (n.*466C>A) c.357+8272C>A (n.357+8272C>A) | |
18 | g.24477223C>G | CA503523805 | HRH4 | c.834C>G (p.Ser278=) c.570C>G (p.Ser190=) c.*466C>G (n.*466C>G) c.357+8272C>G (n.357+8272C>G) | |
18 | g.24477223C>T | CA503523806 | HRH4 | c.834C>T (p.Ser278=) c.570C>T (p.Ser190=) c.*466C>T (n.*466C>T) c.357+8272C>T (n.357+8272C>T) | |
18 | g.24477224T>A | CA402083588 | HRH4 | c.835T>A (p.Phe279Ile) c.571T>A (p.Phe191Ile) c.*467T>A (n.*467T>A) c.357+8273T>A (n.357+8273T>A) | |
18 | g.24477224T>C | CA402083589 | HRH4 | c.835T>C (p.Phe279Leu) c.571T>C (p.Phe191Leu) c.*467T>C (n.*467T>C) c.357+8273T>C (n.357+8273T>C) | |
18 | g.24477224T>G | CA402083590 | HRH4 | c.835T>G (p.Phe279Val) c.571T>G (p.Phe191Val) c.*467T>G (n.*467T>G) c.357+8273T>G (n.357+8273T>G) | |
18 | g.24477225T>A | CA402083591 | HRH4 | c.836T>A (p.Phe279Tyr) c.572T>A (p.Phe191Tyr) c.*468T>A (n.*468T>A) c.357+8274T>A (n.357+8274T>A) | |
18 | g.24477225T>C | CA402083592 | HRH4 | c.836T>C (p.Phe279Ser) c.572T>C (p.Phe191Ser) c.*468T>C (n.*468T>C) c.357+8274T>C (n.357+8274T>C) | |
18 | g.24477225T>G | CA402083593 | HRH4 | c.836T>G (p.Phe279Cys) c.572T>G (p.Phe191Cys) c.*468T>G (n.*468T>G) c.357+8274T>G (n.357+8274T>G) | |
18 | g.24477226C>A | CA402083594 | HRH4 | c.837C>A (p.Phe279Leu) c.573C>A (p.Phe191Leu) c.*469C>A (n.*469C>A) c.357+8275C>A (n.357+8275C>A) | |
18 | g.24477226C>G | CA402083595 | HRH4 | c.837C>G (p.Phe279Leu) c.573C>G (p.Phe191Leu) c.*469C>G (n.*469C>G) c.357+8275C>G (n.357+8275C>G) | |
18 | g.24477226C>T | CA503523810 | HRH4 | c.837C>T (p.Phe279=) c.573C>T (p.Phe191=) c.*469C>T (n.*469C>T) c.357+8275C>T (n.357+8275C>T) | |
18 | g.24477227T>A | CA402083597 | HRH4 | c.838T>A (p.Ser280Thr) c.574T>A (p.Ser192Thr) c.*470T>A (n.*470T>A) c.357+8276T>A (n.357+8276T>A) | |
18 | g.24477227T>C | CA402083598 | HRH4 | c.838T>C (p.Ser280Pro) c.574T>C (p.Ser192Pro) c.*470T>C (n.*470T>C) c.357+8276T>C (n.357+8276T>C) | |
18 | g.24477227T>G | CA402083596 | HRH4 | c.838T>G (p.Ser280Ala) c.574T>G (p.Ser192Ala) c.*470T>G (n.*470T>G) c.357+8276T>G (n.357+8276T>G) | |
18 | g.24477228C>A | CA402083599 | HRH4 | c.839C>A (p.Ser280Tyr) c.575C>A (p.Ser192Tyr) c.*471C>A (n.*471C>A) c.357+8277C>A (n.357+8277C>A) | |
18 | g.24477228C= | CA2290577730 | HRH4 | c.839C= (p.Ser280=) c.575C= (p.Ser192=) c.*471C= (n.*471C=) c.357+8277C= (n.357+8277C=) | |
18 | g.24477228C>G | CA402083600 | HRH4 | c.839C>G (p.Ser280Cys) c.575C>G (p.Ser192Cys) c.*471C>G (n.*471C>G) c.357+8277C>G (n.357+8277C>G) | |
18 | g.24477228C>T | CA297156148 | HRH4 | c.839C>T (p.Ser280Phe) c.575C>T (p.Ser192Phe) c.*471C>T (n.*471C>T) c.357+8277C>T (n.357+8277C>T) | dbSNP |
18 | g.24477229C>A | CA503523813 | HRH4 | c.840C>A (p.Ser280=) c.576C>A (p.Ser192=) c.*472C>A (n.*472C>A) c.357+8278C>A (n.357+8278C>A) | |
18 | g.24477229C>G | CA503523812 | HRH4 | c.840C>G (p.Ser280=) c.576C>G (p.Ser192=) c.*472C>G (n.*472C>G) c.357+8278C>G (n.357+8278C>G) | |
18 | g.24477229C>T | CA503523811 | HRH4 | c.840C>T (p.Ser280=) c.576C>T (p.Ser192=) c.*472C>T (n.*472C>T) c.357+8278C>T (n.357+8278C>T) | |
18 | g.24477230C>A | CA402083601 | HRH4 | c.841C>A (p.Gln281Lys) c.577C>A (p.Gln193Lys) c.*473C>A (n.*473C>A) c.357+8279C>A (n.357+8279C>A) | |
18 | g.24477230C>G | CA402083602 | HRH4 | c.841C>G (p.Gln281Glu) c.577C>G (p.Gln193Glu) c.*473C>G (n.*473C>G) c.357+8279C>G (n.357+8279C>G) | gnomAD v4 |
18 | g.24477230C>T | CA402083603 | HRH4 | c.841C>T (p.Gln281Ter) c.577C>T (p.Gln193Ter) c.*473C>T (n.*473C>T) c.357+8279C>T (n.357+8279C>T) | |
18 | g.24477231A>C | CA402083606 | HRH4 | c.842A>C (p.Gln281Pro) c.578A>C (p.Gln193Pro) c.*474A>C (n.*474A>C) c.357+8280A>C (n.357+8280A>C) | |
18 | g.24477231A>G | CA402083604 | HRH4 | c.842A>G (p.Gln281Arg) c.578A>G (p.Gln193Arg) c.*474A>G (n.*474A>G) c.357+8280A>G (n.357+8280A>G) | |
18 | g.24477231A>T | CA402083605 | HRH4 | c.842A>T (p.Gln281Leu) c.578A>T (p.Gln193Leu) c.*474A>T (n.*474A>T) c.357+8280A>T (n.357+8280A>T) | |
18 | g.24477232A= | CA2290577732 | HRH4 | c.843A= (p.Gln281=) c.579A= (p.Gln193=) c.*475A= (n.*475A=) c.357+8281A= (n.357+8281A=) | |
18 | g.24477232A>C | CA402083607 | HRH4 | c.843A>C (p.Gln281His) c.579A>C (p.Gln193His) c.*475A>C (n.*475A>C) c.357+8281A>C (n.357+8281A>C) | gnomAD v4 |
18 | g.24477232A>G | CA8919885 | HRH4 | c.843A>G (p.Gln281=) c.579A>G (p.Gln193=) c.*475A>G (n.*475A>G) c.357+8281A>G (n.357+8281A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477232A>T | CA402083608 | HRH4 | c.843A>T (p.Gln281His) c.579A>T (p.Gln193His) c.*475A>T (n.*475A>T) c.357+8281A>T (n.357+8281A>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.24477232_24477233delinsAT | CA2290577731 | HRH4 | c.843_844delinsAT (p.Gln281=) c.579_580delinsAT (p.Gln193=) c.*475_*476delinsAT (n.*475_*476delinsAT) c.357+8281_357+8282delinsAT (n.357+8281_357+8282delinsAT) | |
18 | g.24477233del | CA8919886 | HRH4 | c.844del (p.Ser282GlnfsTer4) c.580del (p.Ser194GlnfsTer4) c.*476del (n.*476del) c.357+8282del (n.357+8282del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.24477233T>A | CA402083609 | HRH4 | c.844T>A (p.Ser282Thr) c.580T>A (p.Ser194Thr) c.*476T>A (n.*476T>A) c.357+8282T>A (n.357+8282T>A) | |
18 | g.24477233T>C | CA8919887 | HRH4 | c.844T>C (p.Ser282Pro) c.580T>C (p.Ser194Pro) c.*476T>C (n.*476T>C) c.357+8282T>C (n.357+8282T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477233T>G | CA402083610 | HRH4 | c.844T>G (p.Ser282Ala) c.580T>G (p.Ser194Ala) c.*476T>G (n.*476T>G) c.357+8282T>G (n.357+8282T>G) | dbSNP gnomAD v4 |
18 | g.24477233T= | CA2290577733 | HRH4 | c.844T= (p.Ser282=) c.580T= (p.Ser194=) c.*476T= (n.*476T=) c.357+8282T= (n.357+8282T=) | |
18 | g.24477234C>A | CA402083611 | HRH4 | c.845C>A (p.Ser282Ter) c.581C>A (p.Ser194Ter) c.*477C>A (n.*477C>A) c.357+8283C>A (n.357+8283C>A) | |
18 | g.24477234C= | CA2290577734 | HRH4 | c.845C= (p.Ser282=) c.581C= (p.Ser194=) c.*477C= (n.*477C=) c.357+8283C= (n.357+8283C=) | |
18 | g.24477234C>G | CA8919888 | HRH4 | c.845C>G (p.Ser282Ter) c.581C>G (p.Ser194Ter) c.*477C>G (n.*477C>G) c.357+8283C>G (n.357+8283C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477234C>T | CA402083612 | HRH4 | c.845C>T (p.Ser282Leu) c.581C>T (p.Ser194Leu) c.*477C>T (n.*477C>T) c.357+8283C>T (n.357+8283C>T) | |
18 | g.24477235A>C | CA503523818 | HRH4 | c.846A>C (p.Ser282=) c.582A>C (p.Ser194=) c.*478A>C (n.*478A>C) c.357+8284A>C (n.357+8284A>C) | |
18 | g.24477235A>G | CA503523819 | HRH4 | c.846A>G (p.Ser282=) c.582A>G (p.Ser194=) c.*478A>G (n.*478A>G) c.357+8284A>G (n.357+8284A>G) | gnomAD v4 |
18 | g.24477235A>T | CA503523820 | HRH4 | c.846A>T (p.Ser282=) c.582A>T (p.Ser194=) c.*478A>T (n.*478A>T) c.357+8284A>T (n.357+8284A>T) | |
18 | g.24477235dup | CA297156160 | HRH4 | c.846dup (p.Asp283ArgfsTer12) c.582dup (p.Asp195ArgfsTer12) c.*478dup (n.*478dup) c.357+8284dup (n.357+8284dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.24477236G>A | CA402083613 | HRH4 | c.847G>A (p.Asp283Asn) c.583G>A (p.Asp195Asn) c.*479G>A (n.*479G>A) c.357+8285G>A (n.357+8285G>A) | |
18 | g.24477236G>C | CA402083614 | HRH4 | c.847G>C (p.Asp283His) c.583G>C (p.Asp195His) c.*479G>C (n.*479G>C) c.357+8285G>C (n.357+8285G>C) | |
18 | g.24477236G>T | CA402083615 | HRH4 | c.847G>T (p.Asp283Tyr) c.583G>T (p.Asp195Tyr) c.*479G>T (n.*479G>T) c.357+8285G>T (n.357+8285G>T) | |
18 | g.24477237A>C | CA402083616 | HRH4 | c.848A>C (p.Asp283Ala) c.584A>C (p.Asp195Ala) c.*480A>C (n.*480A>C) c.357+8286A>C (n.357+8286A>C) | |
18 | g.24477237A>G | CA402083617 | HRH4 | c.848A>G (p.Asp283Gly) c.584A>G (p.Asp195Gly) c.*480A>G (n.*480A>G) c.357+8286A>G (n.357+8286A>G) | |
18 | g.24477237A>T | CA402083618 | HRH4 | c.848A>T (p.Asp283Val) c.584A>T (p.Asp195Val) c.*480A>T (n.*480A>T) c.357+8286A>T (n.357+8286A>T) | |
18 | g.24477238T>A | CA402083619 | HRH4 | c.849T>A (p.Asp283Glu) c.585T>A (p.Asp195Glu) c.*481T>A (n.*481T>A) c.357+8287T>A (n.357+8287T>A) | |
18 | g.24477238T>C | CA503523824 | HRH4 | c.849T>C (p.Asp283=) c.585T>C (p.Asp195=) c.*481T>C (n.*481T>C) c.357+8287T>C (n.357+8287T>C) | |
18 | g.24477238T>G | CA402083620 | HRH4 | c.849T>G (p.Asp283Glu) c.585T>G (p.Asp195Glu) c.*481T>G (n.*481T>G) c.357+8287T>G (n.357+8287T>G) | |
18 | g.24477239T>A | CA402083621 | HRH4 | c.850T>A (p.Ser284Thr) c.586T>A (p.Ser196Thr) c.*482T>A (n.*482T>A) c.357+8288T>A (n.357+8288T>A) | |
18 | g.24477239T>C | CA402083622 | HRH4 | c.850T>C (p.Ser284Pro) c.586T>C (p.Ser196Pro) c.*482T>C (n.*482T>C) c.357+8288T>C (n.357+8288T>C) | |
18 | g.24477239T>G | CA402083623 | HRH4 | c.850T>G (p.Ser284Ala) c.586T>G (p.Ser196Ala) c.*482T>G (n.*482T>G) c.357+8288T>G (n.357+8288T>G) | |
18 | g.24477240C>A | CA402083624 | HRH4 | c.851C>A (p.Ser284Tyr) c.587C>A (p.Ser196Tyr) c.*483C>A (n.*483C>A) c.357+8289C>A (n.357+8289C>A) | |
18 | g.24477240C= | CA2290577735 | HRH4 | c.851C= (p.Ser284=) c.587C= (p.Ser196=) c.*483C= (n.*483C=) c.357+8289C= (n.357+8289C=) | |
18 | g.24477240C>G | CA8919889 | HRH4 | c.851C>G (p.Ser284Cys) c.587C>G (p.Ser196Cys) c.*483C>G (n.*483C>G) c.357+8289C>G (n.357+8289C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.24477240C>T | CA402083625 | HRH4 | c.851C>T (p.Ser284Phe) c.587C>T (p.Ser196Phe) c.*483C>T (n.*483C>T) c.357+8289C>T (n.357+8289C>T) | |
18 | g.24477241T>A | CA8919890 | HRH4 | c.852T>A (p.Ser284=) c.588T>A (p.Ser196=) c.*484T>A (n.*484T>A) c.357+8290T>A (n.357+8290T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477241T>C | CA503523826 | HRH4 | c.852T>C (p.Ser284=) c.588T>C (p.Ser196=) c.*484T>C (n.*484T>C) c.357+8290T>C (n.357+8290T>C) | |
18 | g.24477241T>G | CA503523827 | HRH4 | c.852T>G (p.Ser284=) c.588T>G (p.Ser196=) c.*484T>G (n.*484T>G) c.357+8290T>G (n.357+8290T>G) | |
18 | g.24477241T= | CA2290577736 | HRH4 | c.852T= (p.Ser284=) c.588T= (p.Ser196=) c.*484T= (n.*484T=) c.357+8290T= (n.357+8290T=) | |
18 | g.24477242G>A | CA402083626 | HRH4 | c.853G>A (p.Val285Ile) c.589G>A (p.Val197Ile) c.*485G>A (n.*485G>A) c.357+8291G>A (n.357+8291G>A) | |
18 | g.24477242G>C | CA402083627 | HRH4 | c.853G>C (p.Val285Leu) c.589G>C (p.Val197Leu) c.*485G>C (n.*485G>C) c.357+8291G>C (n.357+8291G>C) | |
18 | g.24477242G>T | CA402083628 | HRH4 | c.853G>T (p.Val285Leu) c.589G>T (p.Val197Leu) c.*485G>T (n.*485G>T) c.357+8291G>T (n.357+8291G>T) | |
18 | g.24477243T>A | CA402083629 | HRH4 | c.854T>A (p.Val285Glu) c.590T>A (p.Val197Glu) c.*486T>A (n.*486T>A) c.357+8292T>A (n.357+8292T>A) | |
18 | g.24477243T>C | CA402083630 | HRH4 | c.854T>C (p.Val285Ala) c.590T>C (p.Val197Ala) c.*486T>C (n.*486T>C) c.357+8292T>C (n.357+8292T>C) | gnomAD v4 |
18 | g.24477243T>G | CA402083631 | HRH4 | c.854T>G (p.Val285Gly) c.590T>G (p.Val197Gly) c.*486T>G (n.*486T>G) c.357+8292T>G (n.357+8292T>G) | |
18 | g.24477244A= | CA2290577737 | HRH4 | c.855A= (p.Val285=) c.591A= (p.Val197=) c.*487A= (n.*487A=) c.357+8293A= (n.357+8293A=) | |
18 | g.24477244A>C | CA503523828 | HRH4 | c.855A>C (p.Val285=) c.591A>C (p.Val197=) c.*487A>C (n.*487A>C) c.357+8293A>C (n.357+8293A>C) | |
18 | g.24477244A>G | CA8919891 | HRH4 | c.855A>G (p.Val285=) c.591A>G (p.Val197=) c.*487A>G (n.*487A>G) c.357+8293A>G (n.357+8293A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477244A>T | CA503523831 | HRH4 | c.855A>T (p.Val285=) c.591A>T (p.Val197=) c.*487A>T (n.*487A>T) c.357+8293A>T (n.357+8293A>T) | |
18 | g.24477245G>A | CA402083632 | HRH4 | c.856G>A (p.Ala286Thr) c.592G>A (p.Ala198Thr) c.*488G>A (n.*488G>A) c.357+8294G>A (n.357+8294G>A) | dbSNP gnomAD v4 |
18 | g.24477245G>C | CA402083633 | HRH4 | c.856G>C (p.Ala286Pro) c.592G>C (p.Ala198Pro) c.*488G>C (n.*488G>C) c.357+8294G>C (n.357+8294G>C) | |
18 | g.24477245G= | CA2290577738 | HRH4 | c.856G= (p.Ala286=) c.592G= (p.Ala198=) c.*488G= (n.*488G=) c.357+8294G= (n.357+8294G=) | |
18 | g.24477245G>T | CA402083634 | HRH4 | c.856G>T (p.Ala286Ser) c.592G>T (p.Ala198Ser) c.*488G>T (n.*488G>T) c.357+8294G>T (n.357+8294G>T) | |
18 | g.24477246C>A | CA402083635 | HRH4 | c.857C>A (p.Ala286Asp) c.593C>A (p.Ala198Asp) c.*489C>A (n.*489C>A) c.357+8295C>A (n.357+8295C>A) | |
18 | g.24477246C>G | CA402083636 | HRH4 | c.857C>G (p.Ala286Gly) c.593C>G (p.Ala198Gly) c.*489C>G (n.*489C>G) c.357+8295C>G (n.357+8295C>G) | |
18 | g.24477246C>T | CA402083637 | HRH4 | c.857C>T (p.Ala286Val) c.593C>T (p.Ala198Val) c.*489C>T (n.*489C>T) c.357+8295C>T (n.357+8295C>T) | |
18 | g.24477247T>A | CA503523834 | HRH4 | c.858T>A (p.Ala286=) c.594T>A (p.Ala198=) c.*490T>A (n.*490T>A) c.357+8296T>A (n.357+8296T>A) | |
18 | g.24477247T>C | CA503523836 | HRH4 | c.858T>C (p.Ala286=) c.594T>C (p.Ala198=) c.*490T>C (n.*490T>C) c.357+8296T>C (n.357+8296T>C) | |
18 | g.24477247T>G | CA503523835 | HRH4 | c.858T>G (p.Ala286=) c.594T>G (p.Ala198=) c.*490T>G (n.*490T>G) c.357+8296T>G (n.357+8296T>G) | |
18 | g.24477248C>A | CA402083638 | HRH4 | c.859C>A (p.Leu287Ile) c.595C>A (p.Leu199Ile) c.*491C>A (n.*491C>A) c.357+8297C>A (n.357+8297C>A) | |
18 | g.24477248C= | CA2290577739 | HRH4 | c.859C= (p.Leu287=) c.595C= (p.Leu199=) c.*491C= (n.*491C=) c.357+8297C= (n.357+8297C=) | |
18 | g.24477248C>G | CA402083640 | HRH4 | c.859C>G (p.Leu287Val) c.595C>G (p.Leu199Val) c.*491C>G (n.*491C>G) c.357+8297C>G (n.357+8297C>G) | |
18 | g.24477248C>T | CA402083639 | HRH4 | c.859C>T (p.Leu287Phe) c.595C>T (p.Leu199Phe) c.*491C>T (n.*491C>T) c.357+8297C>T (n.357+8297C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.24477249T>A | CA402083641 | HRH4 | c.860T>A (p.Leu287His) c.596T>A (p.Leu199His) c.*492T>A (n.*492T>A) c.357+8298T>A (n.357+8298T>A) | |
18 | g.24477249T>C | CA402083642 | HRH4 | c.860T>C (p.Leu287Pro) c.596T>C (p.Leu199Pro) c.*492T>C (n.*492T>C) c.357+8298T>C (n.357+8298T>C) | |
18 | g.24477249T>G | CA402083643 | HRH4 | c.860T>G (p.Leu287Arg) c.596T>G (p.Leu199Arg) c.*492T>G (n.*492T>G) c.357+8298T>G (n.357+8298T>G) | |
18 | g.24477250T>A | CA503523837 | HRH4 | c.861T>A (p.Leu287=) c.597T>A (p.Leu199=) c.*493T>A (n.*493T>A) c.357+8299T>A (n.357+8299T>A) | |
18 | g.24477250T>C | CA503523838 | HRH4 | c.861T>C (p.Leu287=) c.597T>C (p.Leu199=) c.*493T>C (n.*493T>C) c.357+8299T>C (n.357+8299T>C) | |
18 | g.24477250T>G | CA503523839 | HRH4 | c.861T>G (p.Leu287=) c.597T>G (p.Leu199=) c.*493T>G (n.*493T>G) c.357+8299T>G (n.357+8299T>G) | |
18 | g.24477251C>A | CA402083644 | HRH4 | c.862C>A (p.His288Asn) c.598C>A (p.His200Asn) c.*494C>A (n.*494C>A) c.357+8300C>A (n.357+8300C>A) | |
18 | g.24477251C>G | CA402083645 | HRH4 | c.862C>G (p.His288Asp) c.598C>G (p.His200Asp) c.*494C>G (n.*494C>G) c.357+8300C>G (n.357+8300C>G) | |
18 | g.24477251C>T | CA402083646 | HRH4 | c.862C>T (p.His288Tyr) c.598C>T (p.His200Tyr) c.*494C>T (n.*494C>T) c.357+8300C>T (n.357+8300C>T) | |
18 | g.24477252A= | CA2290577740 | HRH4 | c.863A= (p.His288=) c.599A= (p.His200=) c.*495A= (n.*495A=) c.357+8301A= (n.357+8301A=) | |
18 | g.24477252A>C | CA8919892 | HRH4 | c.863A>C (p.His288Pro) c.599A>C (p.His200Pro) c.*495A>C (n.*495A>C) c.357+8301A>C (n.357+8301A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.24477252A>G | CA402083647 | HRH4 | c.863A>G (p.His288Arg) c.599A>G (p.His200Arg) c.*495A>G (n.*495A>G) c.357+8301A>G (n.357+8301A>G) | |
18 | g.24477252A>T | CA402083648 | HRH4 | c.863A>T (p.His288Leu) c.599A>T (p.His200Leu) c.*495A>T (n.*495A>T) c.357+8301A>T (n.357+8301A>T) | |
18 | g.24477253C>A | CA402083649 | HRH4 | c.864C>A (p.His288Gln) c.600C>A (p.His200Gln) c.*496C>A (n.*496C>A) c.357+8302C>A (n.357+8302C>A) | |
18 | g.24477253C= | CA2290577741 | HRH4 | c.864C= (p.His288=) c.600C= (p.His200=) c.*496C= (n.*496C=) c.357+8302C= (n.357+8302C=) | |
18 | g.24477253C>G | CA402083650 | HRH4 | c.864C>G (p.His288Gln) c.600C>G (p.His200Gln) c.*496C>G (n.*496C>G) c.357+8302C>G (n.357+8302C>G) | |
18 | g.24477253C>T | CA503523841 | HRH4 | c.864C>T (p.His288=) c.600C>T (p.His200=) c.*496C>T (n.*496C>T) c.357+8302C>T (n.357+8302C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.24477254C>A | CA402083652 | HRH4 | c.865C>A (p.Gln289Lys) c.601C>A (p.Gln201Lys) c.*497C>A (n.*497C>A) c.357+8303C>A (n.357+8303C>A) | |
18 | g.24477254C= | CA2290577742 | HRH4 | c.865C= (p.Gln289=) c.601C= (p.Gln201=) c.*497C= (n.*497C=) c.357+8303C= (n.357+8303C=) | |
18 | g.24477254C>G | CA402083651 | HRH4 | c.865C>G (p.Gln289Glu) c.601C>G (p.Gln201Glu) c.*497C>G (n.*497C>G) c.357+8303C>G (n.357+8303C>G) | |
18 | g.24477254C>T | CA8919893 | HRH4 | c.865C>T (p.Gln289Ter) c.601C>T (p.Gln201Ter) c.*497C>T (n.*497C>T) c.357+8303C>T (n.357+8303C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.24477255A>C | CA402083655 | HRH4 | c.866A>C (p.Gln289Pro) c.602A>C (p.Gln201Pro) c.*498A>C (n.*498A>C) c.357+8304A>C (n.357+8304A>C) | |
18 | g.24477255A>G | CA402083653 | HRH4 | c.866A>G (p.Gln289Arg) c.602A>G (p.Gln201Arg) c.*498A>G (n.*498A>G) c.357+8304A>G (n.357+8304A>G) | |
18 | g.24477255A>T | CA402083654 | HRH4 | c.866A>T (p.Gln289Leu) c.602A>T (p.Gln201Leu) c.*498A>T (n.*498A>T) c.357+8304A>T (n.357+8304A>T) | |
18 | g.24477256A= | CA2290577743 | HRH4 | c.867A= (p.Gln289=) c.603A= (p.Gln201=) c.*499A= (n.*499A=) c.357+8305A= (n.357+8305A=) | |
18 | g.24477256A>C | CA402083656 | HRH4 | c.867A>C (p.Gln289His) c.603A>C (p.Gln201His) c.*499A>C (n.*499A>C) c.357+8305A>C (n.357+8305A>C) | |
18 | g.24477256A>G | CA8919894 | HRH4 | c.867A>G (p.Gln289=) c.603A>G (p.Gln201=) c.*499A>G (n.*499A>G) c.357+8305A>G (n.357+8305A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.24477256A>T | CA402083657 | HRH4 | c.867A>T (p.Gln289His) c.603A>T (p.Gln201His) c.*499A>T (n.*499A>T) c.357+8305A>T (n.357+8305A>T) | |
18 | g.24477257A>C | CA503523843 | HRH4 | c.868A>C (p.Arg290=) c.604A>C (p.Arg202=) c.*500A>C (n.*500A>C) c.357+8306A>C (n.357+8306A>C) | |
18 | g.24477257A>G | CA402083658 | HRH4 | c.868A>G (p.Arg290Gly) c.604A>G (p.Arg202Gly) c.*500A>G (n.*500A>G) c.357+8306A>G (n.357+8306A>G) | |
18 | g.24477257A>T | CA402083659 | HRH4 | c.868A>T (p.Arg290Trp) c.604A>T (p.Arg202Trp) c.*500A>T (n.*500A>T) c.357+8306A>T (n.357+8306A>T) | |
18 | g.24477258G>A | CA402083662 | HRH4 | c.869G>A (p.Arg290Lys) c.605G>A (p.Arg202Lys) c.*501G>A (n.*501G>A) c.357+8307G>A (n.357+8307G>A) | COSMIC |
18 | g.24477258G>C | CA402083660 | HRH4 | c.869G>C (p.Arg290Thr) c.605G>C (p.Arg202Thr) c.*501G>C (n.*501G>C) c.357+8307G>C (n.357+8307G>C) | |
18 | g.24477258G>T | CA402083661 | HRH4 | c.869G>T (p.Arg290Met) c.605G>T (p.Arg202Met) c.*501G>T (n.*501G>T) c.357+8307G>T (n.357+8307G>T) | |
18 | g.24477259G>A | CA503523846 | HRH4 | c.870G>A (p.Arg290=) c.606G>A (p.Arg202=) c.*502G>A (n.*502G>A) c.357+8308G>A (n.357+8308G>A) | |
18 | g.24477259G>C | CA402083663 | HRH4 | c.870G>C (p.Arg290Ser) c.606G>C (p.Arg202Ser) c.*502G>C (n.*502G>C) c.357+8308G>C (n.357+8308G>C) | |
18 | g.24477259G>T | CA402083664 | HRH4 | c.870G>T (p.Arg290Ser) c.606G>T (p.Arg202Ser) c.*502G>T (n.*502G>T) c.357+8308G>T (n.357+8308G>T) | |
18 | g.24477260G>A | CA402083665 | HRH4 | c.871G>A (p.Glu291Lys) c.607G>A (p.Glu203Lys) c.*503G>A (n.*503G>A) c.357+8309G>A (n.357+8309G>A) | |
18 | g.24477260G>C | CA402083666 | HRH4 | c.871G>C (p.Glu291Gln) c.607G>C (p.Glu203Gln) c.*503G>C (n.*503G>C) c.357+8309G>C (n.357+8309G>C) | |
18 | g.24477260G= | CA2290577744 | HRH4 | c.871G= (p.Glu291=) c.607G= (p.Glu203=) c.*503G= (n.*503G=) c.357+8309G= (n.357+8309G=) | |
18 | g.24477260G>T | CA297156195 | HRH4 | c.871G>T (p.Glu291Ter) c.607G>T (p.Glu203Ter) c.*503G>T (n.*503G>T) c.357+8309G>T (n.357+8309G>T) | dbSNP |
18 | g.24477261A>C | CA402083669 | HRH4 | c.872A>C (p.Glu291Ala) c.608A>C (p.Glu203Ala) c.*504A>C (n.*504A>C) c.357+8310A>C (n.357+8310A>C) | |
18 | g.24477261A>G | CA402083667 | HRH4 | c.872A>G (p.Glu291Gly) c.608A>G (p.Glu203Gly) c.*504A>G (n.*504A>G) c.357+8310A>G (n.357+8310A>G) | COSMIC |
18 | g.24477261A>T | CA402083668 | HRH4 | c.872A>T (p.Glu291Val) c.608A>T (p.Glu203Val) c.*504A>T (n.*504A>T) c.357+8310A>T (n.357+8310A>T) | |
18 | g.24477262A>C | CA402083670 | HRH4 | c.873A>C (p.Glu291Asp) c.609A>C (p.Glu203Asp) c.*505A>C (n.*505A>C) c.357+8311A>C (n.357+8311A>C) | |
18 | g.24477262A>G | CA503523849 | HRH4 | c.873A>G (p.Glu291=) c.609A>G (p.Glu203=) c.*505A>G (n.*505A>G) c.357+8311A>G (n.357+8311A>G) | |
18 | g.24477262A>T | CA402083671 | HRH4 | c.873A>T (p.Glu291Asp) c.609A>T (p.Glu203Asp) c.*505A>T (n.*505A>T) c.357+8311A>T (n.357+8311A>T) | |
18 | g.24477263C>A | CA402083672 | HRH4 | c.874C>A (p.His292Asn) c.610C>A (p.His204Asn) c.*506C>A (n.*506C>A) c.357+8312C>A (n.357+8312C>A) | |
18 | g.24477263C>G | CA402083673 | HRH4 | c.874C>G (p.His292Asp) c.610C>G (p.His204Asp) c.*506C>G (n.*506C>G) c.357+8312C>G (n.357+8312C>G) | |
18 | g.24477263C>T | CA402083674 | HRH4 | c.874C>T (p.His292Tyr) c.610C>T (p.His204Tyr) c.*506C>T (n.*506C>T) c.357+8312C>T (n.357+8312C>T) | |
18 | g.24477264A= | CA2290577745 | HRH4 | c.875A= (p.His292=) c.611A= (p.His204=) c.*507A= (n.*507A=) c.357+8313A= (n.357+8313A=) | |
18 | g.24477264A>C | CA402083675 | HRH4 | c.875A>C (p.His292Pro) c.611A>C (p.His204Pro) c.*507A>C (n.*507A>C) c.357+8313A>C (n.357+8313A>C) | |
18 | g.24477264A>G | CA402083676 | HRH4 | c.875A>G (p.His292Arg) c.611A>G (p.His204Arg) c.*507A>G (n.*507A>G) c.357+8313A>G (n.357+8313A>G) | dbSNP |
18 | g.24477264A>T | CA402083677 | HRH4 | c.875A>T (p.His292Leu) c.611A>T (p.His204Leu) c.*507A>T (n.*507A>T) c.357+8313A>T (n.357+8313A>T) | |
18 | g.24477265T>A | CA402083678 | HRH4 | c.876T>A (p.His292Gln) c.612T>A (p.His204Gln) c.*508T>A (n.*508T>A) c.357+8314T>A (n.357+8314T>A) | |
18 | g.24477265T>C | CA503523853 | HRH4 | c.876T>C (p.His292=) c.612T>C (p.His204=) c.*508T>C (n.*508T>C) c.357+8314T>C (n.357+8314T>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.24477265T>G | CA402083679 | HRH4 | c.876T>G (p.His292Gln) c.612T>G (p.His204Gln) c.*508T>G (n.*508T>G) c.357+8314T>G (n.357+8314T>G) | |
18 | g.24477265T= | CA2290577746 | HRH4 | c.876T= (p.His292=) c.612T= (p.His204=) c.*508T= (n.*508T=) c.357+8314T= (n.357+8314T=) | |
18 | g.24477266G>A | CA402083680 | HRH4 | c.877G>A (p.Val293Ile) c.613G>A (p.Val205Ile) c.*509G>A (n.*509G>A) c.357+8315G>A (n.357+8315G>A) | |
18 | g.24477266G>C | CA402083681 | HRH4 | c.877G>C (p.Val293Leu) c.613G>C (p.Val205Leu) c.*509G>C (n.*509G>C) c.357+8315G>C (n.357+8315G>C) | |
18 | g.24477266G>T | CA402083682 | HRH4 | c.877G>T (p.Val293Phe) c.613G>T (p.Val205Phe) c.*509G>T (n.*509G>T) c.357+8315G>T (n.357+8315G>T) | |
18 | g.24477267T>A | CA402083685 | HRH4 | c.878T>A (p.Val293Asp) c.614T>A (p.Val205Asp) c.*510T>A (n.*510T>A) c.357+8316T>A (n.357+8316T>A) | |
18 | g.24477267T>C | CA402083683 | HRH4 | c.878T>C (p.Val293Ala) c.614T>C (p.Val205Ala) c.*510T>C (n.*510T>C) c.357+8316T>C (n.357+8316T>C) | |
18 | g.24477267T>G | CA402083684 | HRH4 | c.878T>G (p.Val293Gly) c.614T>G (p.Val205Gly) c.*510T>G (n.*510T>G) c.357+8316T>G (n.357+8316T>G) | |
18 | g.24477268T>A | CA503523855 | HRH4 | c.879T>A (p.Val293=) c.615T>A (p.Val205=) c.*511T>A (n.*511T>A) c.357+8317T>A (n.357+8317T>A) | |
18 | g.24477268T>C | CA503523856 | HRH4 | c.879T>C (p.Val293=) c.615T>C (p.Val205=) c.*511T>C (n.*511T>C) c.357+8317T>C (n.357+8317T>C) | |
18 | g.24477268T>G | CA503523857 | HRH4 | c.879T>G (p.Val293=) c.615T>G (p.Val205=) c.*511T>G (n.*511T>G) c.357+8317T>G (n.357+8317T>G) | |
18 | g.24477269G>A | CA402083686 | HRH4 | c.880G>A (p.Glu294Lys) c.616G>A (p.Glu206Lys) c.*512G>A (n.*512G>A) c.357+8318G>A (n.357+8318G>A) | gnomAD v4 |
18 | g.24477269G>C | CA402083687 | HRH4 | c.880G>C (p.Glu294Gln) c.616G>C (p.Glu206Gln) c.*512G>C (n.*512G>C) c.357+8318G>C (n.357+8318G>C) | |
18 | g.24477269G>T | CA402083688 | HRH4 | c.880G>T (p.Glu294Ter) c.616G>T (p.Glu206Ter) c.*512G>T (n.*512G>T) c.357+8318G>T (n.357+8318G>T) | |
18 | g.24477270A>C | CA402083689 | HRH4 | c.881A>C (p.Glu294Ala) c.617A>C (p.Glu206Ala) c.*513A>C (n.*513A>C) c.357+8319A>C (n.357+8319A>C) | |
18 | g.24477270A>G | CA402083690 | HRH4 | c.881A>G (p.Glu294Gly) c.617A>G (p.Glu206Gly) c.*513A>G (n.*513A>G) c.357+8319A>G (n.357+8319A>G) | |
18 | g.24477270A>T | CA402083691 | HRH4 | c.881A>T (p.Glu294Val) c.617A>T (p.Glu206Val) c.*513A>T (n.*513A>T) c.357+8319A>T (n.357+8319A>T) |