| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 18 | g.24477271A= | CA2290577747 | HRH4 | c.882A= (p.Glu294=) c.618A= (p.Glu206=) c.*514A= (n.*514A=) c.357+8320A= (n.357+8320A=) | |
| 18 | g.24477271A>C | CA402083692 | HRH4 | c.882A>C (p.Glu294Asp) c.618A>C (p.Glu206Asp) c.*514A>C (n.*514A>C) c.357+8320A>C (n.357+8320A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477271A>G | CA503523632 | HRH4 | c.882A>G (p.Glu294=) c.618A>G (p.Glu206=) c.*514A>G (n.*514A>G) c.357+8320A>G (n.357+8320A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477271A>T | CA402083693 | HRH4 | c.882A>T (p.Glu294Asp) c.618A>T (p.Glu206Asp) c.*514A>T (n.*514A>T) c.357+8320A>T (n.357+8320A>T) | |
| 18 | g.24477272C>A | CA402083694 | HRH4 | c.883C>A (p.Leu295Met) c.619C>A (p.Leu207Met) c.*515C>A (n.*515C>A) c.357+8321C>A (n.357+8321C>A) | |
| 18 | g.24477272C= | CA2290577748 | HRH4 | c.883C= (p.Leu295=) c.619C= (p.Leu207=) c.*515C= (n.*515C=) c.357+8321C= (n.357+8321C=) | |
| 18 | g.24477272C>G | CA402083695 | HRH4 | c.883C>G (p.Leu295Val) c.619C>G (p.Leu207Val) c.*515C>G (n.*515C>G) c.357+8321C>G (n.357+8321C>G) | |
| 18 | g.24477272C>T | CA503523636 | HRH4 | c.883C>T (p.Leu295=) c.619C>T (p.Leu207=) c.*515C>T (n.*515C>T) c.357+8321C>T (n.357+8321C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477273T>A | CA402083696 | HRH4 | c.884T>A (p.Leu295Gln) c.620T>A (p.Leu207Gln) c.*516T>A (n.*516T>A) c.357+8322T>A (n.357+8322T>A) | |
| 18 | g.24477273T>C | CA402083697 | HRH4 | c.884T>C (p.Leu295Pro) c.620T>C (p.Leu207Pro) c.*516T>C (n.*516T>C) c.357+8322T>C (n.357+8322T>C) | |
| 18 | g.24477273T>G | CA402083698 | HRH4 | c.884T>G (p.Leu295Arg) c.620T>G (p.Leu207Arg) c.*516T>G (n.*516T>G) c.357+8322T>G (n.357+8322T>G) | gnomAD v4 |
| 18 | g.24477274G>A | CA503523640 | HRH4 | c.885G>A (p.Leu295=) c.621G>A (p.Leu207=) c.*517G>A (n.*517G>A) c.357+8323G>A (n.357+8323G>A) | |
| 18 | g.24477274G>C | CA503523637 | HRH4 | c.885G>C (p.Leu295=) c.621G>C (p.Leu207=) c.*517G>C (n.*517G>C) c.357+8323G>C (n.357+8323G>C) | |
| 18 | g.24477274G>T | CA503523638 | HRH4 | c.885G>T (p.Leu295=) c.621G>T (p.Leu207=) c.*517G>T (n.*517G>T) c.357+8323G>T (n.357+8323G>T) | |
| 18 | g.24477275C>A | CA402083701 | HRH4 | c.886C>A (p.Leu296Ile) c.622C>A (p.Leu208Ile) c.*518C>A (n.*518C>A) c.357+8324C>A (n.357+8324C>A) | |
| 18 | g.24477275C>G | CA402083700 | HRH4 | c.886C>G (p.Leu296Val) c.622C>G (p.Leu208Val) c.*518C>G (n.*518C>G) c.357+8324C>G (n.357+8324C>G) | |
| 18 | g.24477275C>T | CA402083699 | HRH4 | c.886C>T (p.Leu296Phe) c.622C>T (p.Leu208Phe) c.*518C>T (n.*518C>T) c.357+8324C>T (n.357+8324C>T) | |
| 18 | g.24477276T>A | CA402083702 | HRH4 | c.887T>A (p.Leu296His) c.623T>A (p.Leu208His) c.*519T>A (n.*519T>A) c.357+8325T>A (n.357+8325T>A) | |
| 18 | g.24477276T>C | CA402083703 | HRH4 | c.887T>C (p.Leu296Pro) c.623T>C (p.Leu208Pro) c.*519T>C (n.*519T>C) c.357+8325T>C (n.357+8325T>C) | gnomAD v4 |
| 18 | g.24477276T>G | CA402083704 | HRH4 | c.887T>G (p.Leu296Arg) c.623T>G (p.Leu208Arg) c.*519T>G (n.*519T>G) c.357+8325T>G (n.357+8325T>G) | |
| 18 | g.24477277T>A | CA503523643 | HRH4 | c.888T>A (p.Leu296=) c.624T>A (p.Leu208=) c.*520T>A (n.*520T>A) c.357+8326T>A (n.357+8326T>A) | |
| 18 | g.24477277T>C | CA503523644 | HRH4 | c.888T>C (p.Leu296=) c.624T>C (p.Leu208=) c.*520T>C (n.*520T>C) c.357+8326T>C (n.357+8326T>C) | |
| 18 | g.24477277T>G | CA503523645 | HRH4 | c.888T>G (p.Leu296=) c.624T>G (p.Leu208=) c.*520T>G (n.*520T>G) c.357+8326T>G (n.357+8326T>G) | |
| 18 | g.24477278A= | CA2290577749 | HRH4 | c.889A= (p.Arg297=) c.625A= (p.Arg209=) c.*521A= (n.*521A=) c.357+8327A= (n.357+8327A=) | |
| 18 | g.24477278A>C | CA503523647 | HRH4 | c.889A>C (p.Arg297=) c.625A>C (p.Arg209=) c.*521A>C (n.*521A>C) c.357+8327A>C (n.357+8327A>C) | |
| 18 | g.24477278A>G | CA8919895 | HRH4 | c.889A>G (p.Arg297Gly) c.625A>G (p.Arg209Gly) c.*521A>G (n.*521A>G) c.357+8327A>G (n.357+8327A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477278A>T | CA402083705 | HRH4 | c.889A>T (p.Arg297Ter) c.625A>T (p.Arg209Ter) c.*521A>T (n.*521A>T) c.357+8327A>T (n.357+8327A>T) | |
| 18 | g.24477279G>A | CA402083706 | HRH4 | c.890G>A (p.Arg297Lys) c.626G>A (p.Arg209Lys) c.*522G>A (n.*522G>A) c.357+8328G>A (n.357+8328G>A) | |
| 18 | g.24477279G>C | CA402083707 | HRH4 | c.890G>C (p.Arg297Thr) c.626G>C (p.Arg209Thr) c.*522G>C (n.*522G>C) c.357+8328G>C (n.357+8328G>C) | gnomAD v4 |
| 18 | g.24477279G= | CA2290577750 | HRH4 | c.890G= (p.Arg297=) c.626G= (p.Arg209=) c.*522G= (n.*522G=) c.357+8328G= (n.357+8328G=) | |
| 18 | g.24477279G>T | CA402083708 | HRH4 | c.890G>T (p.Arg297Ile) c.626G>T (p.Arg209Ile) c.*522G>T (n.*522G>T) c.357+8328G>T (n.357+8328G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477280A= | CA2290577751 | HRH4 | c.891A= (p.Arg297=) c.627A= (p.Arg209=) c.*523A= (n.*523A=) c.357+8329A= (n.357+8329A=) | |
| 18 | g.24477280A>C | CA402083709 | HRH4 | c.891A>C (p.Arg297Ser) c.627A>C (p.Arg209Ser) c.*523A>C (n.*523A>C) c.357+8329A>C (n.357+8329A>C) | dbSNP |
| 18 | g.24477280A>G | CA503523649 | HRH4 | c.891A>G (p.Arg297=) c.627A>G (p.Arg209=) c.*523A>G (n.*523A>G) c.357+8329A>G (n.357+8329A>G) | |
| 18 | g.24477280A>T | CA402083710 | HRH4 | c.891A>T (p.Arg297Ser) c.627A>T (p.Arg209Ser) c.*523A>T (n.*523A>T) c.357+8329A>T (n.357+8329A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477281G>A | CA402083711 | HRH4 | c.892G>A (p.Ala298Thr) c.628G>A (p.Ala210Thr) c.*524G>A (n.*524G>A) c.357+8330G>A (n.357+8330G>A) | |
| 18 | g.24477281G>C | CA402083712 | HRH4 | c.892G>C (p.Ala298Pro) c.628G>C (p.Ala210Pro) c.*524G>C (n.*524G>C) c.357+8330G>C (n.357+8330G>C) | |
| 18 | g.24477281G>T | CA402083713 | HRH4 | c.892G>T (p.Ala298Ser) c.628G>T (p.Ala210Ser) c.*524G>T (n.*524G>T) c.357+8330G>T (n.357+8330G>T) | |
| 18 | g.24477282C>A | CA402083716 | HRH4 | c.893C>A (p.Ala298Asp) c.629C>A (p.Ala210Asp) c.*525C>A (n.*525C>A) c.357+8331C>A (n.357+8331C>A) | |
| 18 | g.24477282C>G | CA402083715 | HRH4 | c.893C>G (p.Ala298Gly) c.629C>G (p.Ala210Gly) c.*525C>G (n.*525C>G) c.357+8331C>G (n.357+8331C>G) | |
| 18 | g.24477282C>T | CA402083714 | HRH4 | c.893C>T (p.Ala298Val) c.629C>T (p.Ala210Val) c.*525C>T (n.*525C>T) c.357+8331C>T (n.357+8331C>T) | gnomAD v4 |
| 18 | g.24477283C>A | CA503523651 | HRH4 | c.894C>A (p.Ala298=) c.630C>A (p.Ala210=) c.*526C>A (n.*526C>A) c.357+8332C>A (n.357+8332C>A) | |
| 18 | g.24477283C= | CA2290577752 | HRH4 | c.894C= (p.Ala298=) c.630C= (p.Ala210=) c.*526C= (n.*526C=) c.357+8332C= (n.357+8332C=) | |
| 18 | g.24477283C>G | CA503523652 | HRH4 | c.894C>G (p.Ala298=) c.630C>G (p.Ala210=) c.*526C>G (n.*526C>G) c.357+8332C>G (n.357+8332C>G) | |
| 18 | g.24477283C>T | CA8919896 | HRH4 | c.894C>T (p.Ala298=) c.630C>T (p.Ala210=) c.*526C>T (n.*526C>T) c.357+8332C>T (n.357+8332C>T) | dbSNP ExAC gnomAD v2 |
| 18 | g.24477284A>C | CA503523654 | HRH4 | c.895A>C (p.Arg299=) c.631A>C (p.Arg211=) c.*527A>C (n.*527A>C) c.357+8333A>C (n.357+8333A>C) | |
| 18 | g.24477284A>G | CA402083717 | HRH4 | c.895A>G (p.Arg299Gly) c.631A>G (p.Arg211Gly) c.*527A>G (n.*527A>G) c.357+8333A>G (n.357+8333A>G) | |
| 18 | g.24477284A>T | CA402083718 | HRH4 | c.895A>T (p.Arg299Trp) c.631A>T (p.Arg211Trp) c.*527A>T (n.*527A>T) c.357+8333A>T (n.357+8333A>T) | |
| 18 | g.24477285G>A | CA402083719 | HRH4 | c.896G>A (p.Arg299Lys) c.632G>A (p.Arg211Lys) c.*528G>A (n.*528G>A) c.357+8334G>A (n.357+8334G>A) | |
| 18 | g.24477285G>C | CA402083720 | HRH4 | c.896G>C (p.Arg299Thr) c.632G>C (p.Arg211Thr) c.*528G>C (n.*528G>C) c.357+8334G>C (n.357+8334G>C) | |
| 18 | g.24477285G>T | CA402083721 | HRH4 | c.896G>T (p.Arg299Met) c.632G>T (p.Arg211Met) c.*528G>T (n.*528G>T) c.357+8334G>T (n.357+8334G>T) | |
| 18 | g.24477286G>A | CA503523656 | HRH4 | c.897G>A (p.Arg299=) c.633G>A (p.Arg211=) c.*529G>A (n.*529G>A) c.357+8335G>A (n.357+8335G>A) | COSMIC |
| 18 | g.24477286G>C | CA402083722 | HRH4 | c.897G>C (p.Arg299Ser) c.633G>C (p.Arg211Ser) c.*529G>C (n.*529G>C) c.357+8335G>C (n.357+8335G>C) | gnomAD v4 |
| 18 | g.24477286G>T | CA402083723 | HRH4 | c.897G>T (p.Arg299Ser) c.633G>T (p.Arg211Ser) c.*529G>T (n.*529G>T) c.357+8335G>T (n.357+8335G>T) | |
| 18 | g.24477287A>C | CA503523657 | HRH4 | c.898A>C (p.Arg300=) c.634A>C (p.Arg212=) c.*530A>C (n.*530A>C) c.357+8336A>C (n.357+8336A>C) | |
| 18 | g.24477287A>G | CA402083724 | HRH4 | c.898A>G (p.Arg300Gly) c.634A>G (p.Arg212Gly) c.*530A>G (n.*530A>G) c.357+8336A>G (n.357+8336A>G) | gnomAD v4 |
| 18 | g.24477287A>T | CA402083725 | HRH4 | c.898A>T (p.Arg300Ter) c.634A>T (p.Arg212Ter) c.*530A>T (n.*530A>T) c.357+8336A>T (n.357+8336A>T) | |
| 18 | g.24477288G>A | CA402083726 | HRH4 | c.899G>A (p.Arg300Lys) c.635G>A (p.Arg212Lys) c.*531G>A (n.*531G>A) c.357+8337G>A (n.357+8337G>A) | |
| 18 | g.24477288G>C | CA402083727 | HRH4 | c.899G>C (p.Arg300Thr) c.635G>C (p.Arg212Thr) c.*531G>C (n.*531G>C) c.357+8337G>C (n.357+8337G>C) | |
| 18 | g.24477288G= | CA2290577753 | HRH4 | c.899G= (p.Arg300=) c.635G= (p.Arg212=) c.*531G= (n.*531G=) c.357+8337G= (n.357+8337G=) | |
| 18 | g.24477288G>T | CA8919897 | HRH4 | c.899G>T (p.Arg300Ile) c.635G>T (p.Arg212Ile) c.*531G>T (n.*531G>T) c.357+8337G>T (n.357+8337G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477289A>C | CA402083728 | HRH4 | c.900A>C (p.Arg300Ser) c.636A>C (p.Arg212Ser) c.*532A>C (n.*532A>C) c.357+8338A>C (n.357+8338A>C) | |
| 18 | g.24477289A>G | CA503523659 | HRH4 | c.900A>G (p.Arg300=) c.636A>G (p.Arg212=) c.*532A>G (n.*532A>G) c.357+8338A>G (n.357+8338A>G) | gnomAD v4 |
| 18 | g.24477289A>T | CA402083729 | HRH4 | c.900A>T (p.Arg300Ser) c.636A>T (p.Arg212Ser) c.*532A>T (n.*532A>T) c.357+8338A>T (n.357+8338A>T) | |
| 18 | g.24477290T>A | CA402083731 | HRH4 | c.901T>A (p.Leu301Ile) c.637T>A (p.Leu213Ile) c.*533T>A (n.*533T>A) c.357+8339T>A (n.357+8339T>A) | |
| 18 | g.24477290T>C | CA503523662 | HRH4 | c.901T>C (p.Leu301=) c.637T>C (p.Leu213=) c.*533T>C (n.*533T>C) c.357+8339T>C (n.357+8339T>C) | |
| 18 | g.24477290T>G | CA402083730 | HRH4 | c.901T>G (p.Leu301Val) c.637T>G (p.Leu213Val) c.*533T>G (n.*533T>G) c.357+8339T>G (n.357+8339T>G) | |
| 18 | g.24477291T>A | CA402083732 | HRH4 | c.902T>A (p.Leu301Ter) c.638T>A (p.Leu213Ter) c.*534T>A (n.*534T>A) c.357+8340T>A (n.357+8340T>A) | |
| 18 | g.24477291T>C | CA402083733 | HRH4 | c.902T>C (p.Leu301Ser) c.638T>C (p.Leu213Ser) c.*534T>C (n.*534T>C) c.357+8340T>C (n.357+8340T>C) | COSMIC |
| 18 | g.24477291T>G | CA402083734 | HRH4 | c.902T>G (p.Leu301Ter) c.638T>G (p.Leu213Ter) c.*534T>G (n.*534T>G) c.357+8340T>G (n.357+8340T>G) | |
| 18 | g.24477292A= | CA2290577754 | HRH4 | c.903A= (p.Leu301=) c.639A= (p.Leu213=) c.*535A= (n.*535A=) c.357+8341A= (n.357+8341A=) | |
| 18 | g.24477292A>C | CA402083735 | HRH4 | c.903A>C (p.Leu301Phe) c.639A>C (p.Leu213Phe) c.*535A>C (n.*535A>C) c.357+8341A>C (n.357+8341A>C) | dbSNP |
| 18 | g.24477292A>G | CA503523664 | HRH4 | c.903A>G (p.Leu301=) c.639A>G (p.Leu213=) c.*535A>G (n.*535A>G) c.357+8341A>G (n.357+8341A>G) | |
| 18 | g.24477292A>T | CA402083736 | HRH4 | c.903A>T (p.Leu301Phe) c.639A>T (p.Leu213Phe) c.*535A>T (n.*535A>T) c.357+8341A>T (n.357+8341A>T) | |
| 18 | g.24477293G>A | CA402083739 | HRH4 | c.904G>A (p.Ala302Thr) c.640G>A (p.Ala214Thr) c.*536G>A (n.*536G>A) c.357+8342G>A (n.357+8342G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477293G>C | CA402083738 | HRH4 | c.904G>C (p.Ala302Pro) c.640G>C (p.Ala214Pro) c.*536G>C (n.*536G>C) c.357+8342G>C (n.357+8342G>C) | |
| 18 | g.24477293G= | CA2290577755 | HRH4 | c.904G= (p.Ala302=) c.640G= (p.Ala214=) c.*536G= (n.*536G=) c.357+8342G= (n.357+8342G=) | |
| 18 | g.24477293G>T | CA402083737 | HRH4 | c.904G>T (p.Ala302Ser) c.640G>T (p.Ala214Ser) c.*536G>T (n.*536G>T) c.357+8342G>T (n.357+8342G>T) | |
| 18 | g.24477294C>A | CA402083740 | HRH4 | c.905C>A (p.Ala302Asp) c.641C>A (p.Ala214Asp) c.*537C>A (n.*537C>A) c.357+8343C>A (n.357+8343C>A) | |
| 18 | g.24477294C>G | CA402083741 | HRH4 | c.905C>G (p.Ala302Gly) c.641C>G (p.Ala214Gly) c.*537C>G (n.*537C>G) c.357+8343C>G (n.357+8343C>G) | |
| 18 | g.24477294C>T | CA402083742 | HRH4 | c.905C>T (p.Ala302Val) c.641C>T (p.Ala214Val) c.*537C>T (n.*537C>T) c.357+8343C>T (n.357+8343C>T) | gnomAD v4 |
| 18 | g.24477295C>A | CA503523670 | HRH4 | c.906C>A (p.Ala302=) c.642C>A (p.Ala214=) c.*538C>A (n.*538C>A) c.357+8344C>A (n.357+8344C>A) | |
| 18 | g.24477295C= | CA2290577756 | HRH4 | c.906C= (p.Ala302=) c.642C= (p.Ala214=) c.*538C= (n.*538C=) c.357+8344C= (n.357+8344C=) | |
| 18 | g.24477295C>G | CA503523668 | HRH4 | c.906C>G (p.Ala302=) c.642C>G (p.Ala214=) c.*538C>G (n.*538C>G) c.357+8344C>G (n.357+8344C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.24477295C>T | CA503523669 | HRH4 | c.906C>T (p.Ala302=) c.642C>T (p.Ala214=) c.*538C>T (n.*538C>T) c.357+8344C>T (n.357+8344C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.24477296A>C | CA402083743 | HRH4 | c.907A>C (p.Lys303Gln) c.643A>C (p.Lys215Gln) c.*539A>C (n.*539A>C) c.357+8345A>C (n.357+8345A>C) | |
| 18 | g.24477296A>G | CA402083744 | HRH4 | c.907A>G (p.Lys303Glu) c.643A>G (p.Lys215Glu) c.*539A>G (n.*539A>G) c.357+8345A>G (n.357+8345A>G) | |
| 18 | g.24477296A>T | CA402083745 | HRH4 | c.907A>T (p.Lys303Ter) c.643A>T (p.Lys215Ter) c.*539A>T (n.*539A>T) c.357+8345A>T (n.357+8345A>T) | |
| 18 | g.24477297A>C | CA402083746 | HRH4 | c.908A>C (p.Lys303Thr) c.644A>C (p.Lys215Thr) c.*540A>C (n.*540A>C) c.357+8346A>C (n.357+8346A>C) | |
| 18 | g.24477297A>G | CA402083748 | HRH4 | c.908A>G (p.Lys303Arg) c.644A>G (p.Lys215Arg) c.*540A>G (n.*540A>G) c.357+8346A>G (n.357+8346A>G) | |
| 18 | g.24477297A>T | CA402083747 | HRH4 | c.908A>T (p.Lys303Met) c.644A>T (p.Lys215Met) c.*540A>T (n.*540A>T) c.357+8346A>T (n.357+8346A>T) | |
| 18 | g.24477298G>A | CA8919898 | HRH4 | c.909G>A (p.Lys303=) c.645G>A (p.Lys215=) c.*541G>A (n.*541G>A) c.357+8347G>A (n.357+8347G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.24477298G>C | CA402083749 | HRH4 | c.909G>C (p.Lys303Asn) c.645G>C (p.Lys215Asn) c.*541G>C (n.*541G>C) c.357+8347G>C (n.357+8347G>C) | |
| 18 | g.24477298G= | CA2290577757 | HRH4 | c.909G= (p.Lys303=) c.645G= (p.Lys215=) c.*541G= (n.*541G=) c.357+8347G= (n.357+8347G=) | |
| 18 | g.24477298G>T | CA402083750 | HRH4 | c.909G>T (p.Lys303Asn) c.645G>T (p.Lys215Asn) c.*541G>T (n.*541G>T) c.357+8347G>T (n.357+8347G>T) | gnomAD v4 |
| 18 | g.24477299T>A | CA402083751 | HRH4 | c.910T>A (p.Ser304Thr) c.646T>A (p.Ser216Thr) c.*542T>A (n.*542T>A) c.357+8348T>A (n.357+8348T>A) | |
| 18 | g.24477299T>C | CA8919899 | HRH4 | c.910T>C (p.Ser304Pro) c.646T>C (p.Ser216Pro) c.*542T>C (n.*542T>C) c.357+8348T>C (n.357+8348T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477299T>G | CA402083752 | HRH4 | c.910T>G (p.Ser304Ala) c.646T>G (p.Ser216Ala) c.*542T>G (n.*542T>G) c.357+8348T>G (n.357+8348T>G) | |
| 18 | g.24477299T= | CA2290577758 | HRH4 | c.910T= (p.Ser304=) c.646T= (p.Ser216=) c.*542T= (n.*542T=) c.357+8348T= (n.357+8348T=) | |
| 18 | g.24477300C>A | CA402083755 | HRH4 | c.911C>A (p.Ser304Ter) c.647C>A (p.Ser216Ter) c.*543C>A (n.*543C>A) c.357+8349C>A (n.357+8349C>A) | |
| 18 | g.24477300C>G | CA402083753 | HRH4 | c.911C>G (p.Ser304Ter) c.647C>G (p.Ser216Ter) c.*543C>G (n.*543C>G) c.357+8349C>G (n.357+8349C>G) | gnomAD v4 |
| 18 | g.24477300C>T | CA402083754 | HRH4 | c.911C>T (p.Ser304Leu) c.647C>T (p.Ser216Leu) c.*543C>T (n.*543C>T) c.357+8349C>T (n.357+8349C>T) | |
| 18 | g.24477301A>C | CA503523677 | HRH4 | c.912A>C (p.Ser304=) c.648A>C (p.Ser216=) c.*544A>C (n.*544A>C) c.357+8350A>C (n.357+8350A>C) | |
| 18 | g.24477301A>G | CA503523678 | HRH4 | c.912A>G (p.Ser304=) c.648A>G (p.Ser216=) c.*544A>G (n.*544A>G) c.357+8350A>G (n.357+8350A>G) | |
| 18 | g.24477301A>T | CA503523679 | HRH4 | c.912A>T (p.Ser304=) c.648A>T (p.Ser216=) c.*544A>T (n.*544A>T) c.357+8350A>T (n.357+8350A>T) | |
| 18 | g.24477302C>A | CA402083756 | HRH4 | c.913C>A (p.Leu305Met) c.649C>A (p.Leu217Met) c.*545C>A (n.*545C>A) c.357+8351C>A (n.357+8351C>A) | |
| 18 | g.24477302C= | CA2290577759 | HRH4 | c.913C= (p.Leu305=) c.649C= (p.Leu217=) c.*545C= (n.*545C=) c.357+8351C= (n.357+8351C=) | |
| 18 | g.24477302C>G | CA402083757 | HRH4 | c.913C>G (p.Leu305Val) c.649C>G (p.Leu217Val) c.*545C>G (n.*545C>G) c.357+8351C>G (n.357+8351C>G) | |
| 18 | g.24477302C>T | CA503523681 | HRH4 | c.913C>T (p.Leu305=) c.649C>T (p.Leu217=) c.*545C>T (n.*545C>T) c.357+8351C>T (n.357+8351C>T) | dbSNP gnomAD v4 |
| 18 | g.24477303T>A | CA402083758 | HRH4 | c.914T>A (p.Leu305Gln) c.650T>A (p.Leu217Gln) c.*546T>A (n.*546T>A) c.357+8352T>A (n.357+8352T>A) | |
| 18 | g.24477303T>C | CA402083759 | HRH4 | c.914T>C (p.Leu305Pro) c.650T>C (p.Leu217Pro) c.*546T>C (n.*546T>C) c.357+8352T>C (n.357+8352T>C) | |
| 18 | g.24477303T>G | CA402083760 | HRH4 | c.914T>G (p.Leu305Arg) c.650T>G (p.Leu217Arg) c.*546T>G (n.*546T>G) c.357+8352T>G (n.357+8352T>G) | |
| 18 | g.24477304G>A | CA503523682 | HRH4 | c.915G>A (p.Leu305=) c.651G>A (p.Leu217=) c.*547G>A (n.*547G>A) c.357+8353G>A (n.357+8353G>A) | gnomAD v4 |
| 18 | g.24477304G>C | CA503523683 | HRH4 | c.915G>C (p.Leu305=) c.651G>C (p.Leu217=) c.*547G>C (n.*547G>C) c.357+8353G>C (n.357+8353G>C) | |
| 18 | g.24477304G>T | CA503523684 | HRH4 | c.915G>T (p.Leu305=) c.651G>T (p.Leu217=) c.*547G>T (n.*547G>T) c.357+8353G>T (n.357+8353G>T) | |
| 18 | g.24477304_24477305delinsTT | CA645600374 | HRH4 | c.915_916delinsTT (p.Ala306Ser) c.651_652delinsTT (p.Ala218Ser) c.*547_*548delinsTT (n.*547_*548delinsTT) c.357+8353_357+8354delinsTT (n.357+8353_357+8354delinsTT) | COSMIC |
| 18 | g.24477305G>A | CA402083761 | HRH4 | c.916G>A (p.Ala306Thr) c.652G>A (p.Ala218Thr) c.*548G>A (n.*548G>A) c.357+8354G>A (n.357+8354G>A) | dbSNP gnomAD v2 |
| 18 | g.24477305G>C | CA402083763 | HRH4 | c.916G>C (p.Ala306Pro) c.652G>C (p.Ala218Pro) c.*548G>C (n.*548G>C) c.357+8354G>C (n.357+8354G>C) | |
| 18 | g.24477305G= | CA2290577760 | HRH4 | c.916G= (p.Ala306=) c.652G= (p.Ala218=) c.*548G= (n.*548G=) c.357+8354G= (n.357+8354G=) | |
| 18 | g.24477305G>T | CA402083762 | HRH4 | c.916G>T (p.Ala306Ser) c.652G>T (p.Ala218Ser) c.*548G>T (n.*548G>T) c.357+8354G>T (n.357+8354G>T) | |
| 18 | g.24477306C>A | CA8919900 | HRH4 | c.917C>A (p.Ala306Asp) c.653C>A (p.Ala218Asp) c.*549C>A (n.*549C>A) c.357+8355C>A (n.357+8355C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.24477306C= | CA2290577761 | HRH4 | c.917C= (p.Ala306=) c.653C= (p.Ala218=) c.*549C= (n.*549C=) c.357+8355C= (n.357+8355C=) | |
| 18 | g.24477306C>G | CA402083764 | HRH4 | c.917C>G (p.Ala306Gly) c.653C>G (p.Ala218Gly) c.*549C>G (n.*549C>G) c.357+8355C>G (n.357+8355C>G) | |
| 18 | g.24477306C>T | CA402083765 | HRH4 | c.917C>T (p.Ala306Val) c.653C>T (p.Ala218Val) c.*549C>T (n.*549C>T) c.357+8355C>T (n.357+8355C>T) | gnomAD v4 |
| 18 | g.24477307C>A | CA503523686 | HRH4 | c.918C>A (p.Ala306=) c.654C>A (p.Ala218=) c.*550C>A (n.*550C>A) c.357+8356C>A (n.357+8356C>A) | |
| 18 | g.24477307C>G | CA503523687 | HRH4 | c.918C>G (p.Ala306=) c.654C>G (p.Ala218=) c.*550C>G (n.*550C>G) c.357+8356C>G (n.357+8356C>G) | |
| 18 | g.24477307C>T | CA503523688 | HRH4 | c.918C>T (p.Ala306=) c.654C>T (p.Ala218=) c.*550C>T (n.*550C>T) c.357+8356C>T (n.357+8356C>T) | |
| 18 | g.24477308A>C | CA402083766 | HRH4 | c.919A>C (p.Ile307Leu) c.655A>C (p.Ile219Leu) c.*551A>C (n.*551A>C) c.357+8357A>C (n.357+8357A>C) | |
| 18 | g.24477308A>G | CA402083767 | HRH4 | c.919A>G (p.Ile307Val) c.655A>G (p.Ile219Val) c.*551A>G (n.*551A>G) c.357+8357A>G (n.357+8357A>G) | |
| 18 | g.24477308A>T | CA402083768 | HRH4 | c.919A>T (p.Ile307Phe) c.655A>T (p.Ile219Phe) c.*551A>T (n.*551A>T) c.357+8357A>T (n.357+8357A>T) | |
| 18 | g.24477309T>A | CA402083769 | HRH4 | c.920T>A (p.Ile307Asn) c.656T>A (p.Ile219Asn) c.*552T>A (n.*552T>A) c.357+8358T>A (n.357+8358T>A) | |
| 18 | g.24477309T>C | CA402083770 | HRH4 | c.920T>C (p.Ile307Thr) c.656T>C (p.Ile219Thr) c.*552T>C (n.*552T>C) c.357+8358T>C (n.357+8358T>C) | |
| 18 | g.24477309T>G | CA402083771 | HRH4 | c.920T>G (p.Ile307Ser) c.656T>G (p.Ile219Ser) c.*552T>G (n.*552T>G) c.357+8358T>G (n.357+8358T>G) |