Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.60371474_60371475dupCA2642029296MC4Rc.878_879dup (p.Asn294ValfsTer8)
gnomAD v4
18g.60371472C>ACA402718878MC4Rc.878G>T (p.Cys293Phe)
18g.60371472C=CA2307358970MC4Rc.878G= (p.Cys293=)
18g.60371472C>GCA402718879MC4Rc.878G>C (p.Cys293Ser)
18g.60371472C>TCA402718880MC4Rc.878G>A (p.Cys293Tyr)
dbSNP
18g.60371473A=CA2307358971MC4Rc.877T= (p.Cys293=)
18g.60371473A>CCA301530011MC4Rc.877T>G (p.Cys293Gly)
dbSNP
18g.60371473A>GCA402718881MC4Rc.877T>C (p.Cys293Arg)
18g.60371473A>TCA402718882MC4Rc.877T>A (p.Cys293Ser)
18g.60371474C>ACA402718883MC4Rc.876G>T (p.Met292Ile)
18g.60371474C=CA2307358974MC4Rc.876G= (p.Met292=)
18g.60371474C>GCA402718885MC4Rc.876G>C (p.Met292Ile)
18g.60371474C>TCA402718884MC4Rc.876G>A (p.Met292Ile)
dbSNP gnomAD v2 gnomAD v4
18g.60371474_60371475delinsCACA2307358973MC4Rc.875_876delinsTG (p.Met292=)
18g.60371474_60371477delinsCATGCA2307358972MC4Rc.873_876delinsCATG (p.Ile291=)
18g.60371475delCA8980820MC4Rc.875del (p.Met292SerfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371475A>CCA402718886MC4Rc.875T>G (p.Met292Arg)
18g.60371475A>GCA402718887MC4Rc.875T>C (p.Met292Thr)
gnomAD v4
18g.60371475A>TCA402718888MC4Rc.875T>A (p.Met292Lys)
18g.60371477_60371479delCA8980821MC4Rc.873_875del (p.Ile291del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371476T>ACA402718889MC4Rc.874A>T (p.Met292Leu)
18g.60371476T>CCA402718890MC4Rc.874A>G (p.Met292Val)
gnomAD v4
18g.60371476T>GCA402718891MC4Rc.874A>C (p.Met292Leu)
18g.60371477delCA2576516485MC4Rc.873del (p.Met292CysfsTer9)
18g.60371477G>ACA8980822MC4Rc.873C>T (p.Ile291=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371477G>CCA402718892MC4Rc.873C>G (p.Ile291Met)
18g.60371477G=CA2307358975MC4Rc.873C= (p.Ile291=)
18g.60371477G>TCA504305133MC4Rc.873C>A (p.Ile291=)
gnomAD v4
18g.60371478A=CA2307358976MC4Rc.872T= (p.Ile291=)
18g.60371478A>CCA8980823MC4Rc.872T>G (p.Ile291Ser)
dbSNP ExAC gnomAD v2
18g.60371478A>GCA402718894MC4Rc.872T>C (p.Ile291Thr)
18g.60371478A>TCA402718893MC4Rc.872T>A (p.Ile291Asn)
18g.60371479T>ACA402718895MC4Rc.871A>T (p.Ile291Phe)
18g.60371479T>CCA402718896MC4Rc.871A>G (p.Ile291Val)
18g.60371479T>GCA402718897MC4Rc.871A>C (p.Ile291Leu)
18g.60371480delCA2695227730MC4Rc.870del (p.Ile291SerfsTer10)
18g.60371480C>ACA504305137MC4Rc.870G>T (p.Leu290=)
gnomAD v4
18g.60371480C>GCA504305138MC4Rc.870G>C (p.Leu290=)
18g.60371480C>TCA504305140MC4Rc.870G>A (p.Leu290=)
dbSNP
18g.60371481A=CA2307358977MC4Rc.869T= (p.Leu290=)
18g.60371481A>CCA402718898MC4Rc.869T>G (p.Leu290Arg)
18g.60371481A>GCA402718899MC4Rc.869T>C (p.Leu290Pro)
18g.60371481A>TCA402718900MC4Rc.869T>A (p.Leu290Gln)
dbSNP
18g.60371482G>ACA504305143MC4Rc.868C>T (p.Leu290=)
18g.60371482G>CCA402718901MC4Rc.868C>G (p.Leu290Val)
18g.60371482G>TCA402718902MC4Rc.868C>A (p.Leu290Met)
18g.60371483T>ACA504305145MC4Rc.867A>T (p.Ile289=)
COSMIC
18g.60371483T>CCA402718903MC4Rc.867A>G (p.Ile289Met)
18g.60371483T>GCA504305144MC4Rc.867A>C (p.Ile289=)
18g.60371484A=CA2307358978MC4Rc.866T= (p.Ile289=)
18g.60371484A>CCA402718904MC4Rc.866T>G (p.Ile289Arg)
18g.60371484A>GCA402718905MC4Rc.866T>C (p.Ile289Thr)
dbSNP
18g.60371484A>TCA402718906MC4Rc.866T>A (p.Ile289Lys)
18g.60371485T>ACA402718907MC4Rc.865A>T (p.Ile289Leu)
18g.60371485T>CCA402718908MC4Rc.865A>G (p.Ile289Val)
18g.60371485T>GCA402718909MC4Rc.865A>C (p.Ile289Leu)
18g.60371486G>ACA504305149MC4Rc.864C>T (p.Leu288=)
gnomAD v4
18g.60371486G>CCA504305150MC4Rc.864C>G (p.Leu288=)
18g.60371486G>TCA504305151MC4Rc.864C>A (p.Leu288=)
18g.60371487A>CCA402718912MC4Rc.863T>G (p.Leu288Arg)
18g.60371487A>GCA402718910MC4Rc.863T>C (p.Leu288Pro)
18g.60371487A>TCA402718911MC4Rc.863T>A (p.Leu288His)
COSMIC
18g.60371488G>ACA402718913MC4Rc.862C>T (p.Leu288Phe)
ClinVar COSMIC
18g.60371488G>CCA402718914MC4Rc.862C>G (p.Leu288Val)
18g.60371488G>TCA402718915MC4Rc.862C>A (p.Leu288Ile)
COSMIC
18g.60371489A=CA2307358979MC4Rc.861T= (p.Tyr287=)
18g.60371489A>CCA402718916MC4Rc.861T>G (p.Tyr287Ter)
18g.60371489A>GCA504305154MC4Rc.861T>C (p.Tyr287=)
gnomAD v4
18g.60371489A>TCA210721MC4Rc.861T>A (p.Tyr287Ter)
ClinVar dbSNP gnomAD v4
18g.60371490T>ACA402718917MC4Rc.860A>T (p.Tyr287Phe)
18g.60371490T>CCA8980824MC4Rc.860A>G (p.Tyr287Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371490T>GCA402718918MC4Rc.860A>C (p.Tyr287Ser)
18g.60371490T=CA2307358980MC4Rc.860A= (p.Tyr287=)
18g.60371491A>CCA402718919MC4Rc.859T>G (p.Tyr287Asp)
18g.60371491A>GCA402718920MC4Rc.859T>C (p.Tyr287His)
18g.60371491A>TCA402718921MC4Rc.859T>A (p.Tyr287Asn)
18g.60371492C>ACA402718922MC4Rc.858G>T (p.Leu286Phe)
gnomAD v4
18g.60371492C>GCA402718923MC4Rc.858G>C (p.Leu286Phe)
18g.60371492C>TCA504305156MC4Rc.858G>A (p.Leu286=)
18g.60371493A=CA2307358981MC4Rc.857T= (p.Leu286=)
18g.60371493A>CCA402718924MC4Rc.857T>G (p.Leu286Trp)
dbSNP
18g.60371493A>GCA402718926MC4Rc.857T>C (p.Leu286Ser)
18g.60371493A>TCA402718925MC4Rc.857T>A (p.Leu286Ter)
18g.60371494A>CCA402718927MC4Rc.856T>G (p.Leu286Val)
18g.60371494A>GCA504305158MC4Rc.856T>C (p.Leu286=)
18g.60371494A>TCA402718928MC4Rc.856T>A (p.Leu286Met)
18g.60371495G>ACA504305160MC4Rc.855C>T (p.Asn285=)
18g.60371495G>CCA402718929MC4Rc.855C>G (p.Asn285Lys)
18g.60371495G>TCA402718930MC4Rc.855C>A (p.Asn285Lys)
18g.60371496T>ACA402718931MC4Rc.854A>T (p.Asn285Ile)
18g.60371496T>CCA402718932MC4Rc.854A>G (p.Asn285Ser)
18g.60371496T>GCA402718933MC4Rc.854A>C (p.Asn285Thr)
18g.60371497T>ACA402718934MC4Rc.853A>T (p.Asn285Tyr)
18g.60371497T>CCA402718935MC4Rc.853A>G (p.Asn285Asp)
18g.60371497T>GCA402718936MC4Rc.853A>C (p.Asn285His)
18g.60371498A=CA2307358982MC4Rc.852T= (p.Phe284=)
18g.60371498A>CCA402718937MC4Rc.852T>G (p.Phe284Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371498A>GCA504305166MC4Rc.852T>C (p.Phe284=)
gnomAD v4
18g.60371498A>TCA402718938MC4Rc.852T>A (p.Phe284Leu)
18g.60371499A=CA2307358983MC4Rc.851T= (p.Phe284=)
18g.60371499A>CCA402718941MC4Rc.851T>G (p.Phe284Cys)
dbSNP gnomAD v2 gnomAD v4
18g.60371499A>GCA402718940MC4Rc.851T>C (p.Phe284Ser)
18g.60371499A>TCA402718939MC4Rc.851T>A (p.Phe284Tyr)
COSMIC
18g.60371500A>CCA402718942MC4Rc.850T>G (p.Phe284Val)
18g.60371500A>GCA402718943MC4Rc.850T>C (p.Phe284Leu)
18g.60371500A>TCA402718944MC4Rc.850T>A (p.Phe284Ile)
dbSNP gnomAD v4
18g.60371501G>ACA8980825MC4Rc.849C>T (p.His283=)
dbSNP ExAC gnomAD v3 gnomAD v4
18g.60371501G>CCA402718945MC4Rc.849C>G (p.His283Gln)
18g.60371501G=CA2307358984MC4Rc.849C= (p.His283=)
18g.60371501G>TCA402718946MC4Rc.849C>A (p.His283Gln)
18g.60371502T>ACA402718947MC4Rc.848A>T (p.His283Leu)
18g.60371502T>CCA402718948MC4Rc.848A>G (p.His283Arg)
gnomAD v4
18g.60371502T>GCA402718949MC4Rc.848A>C (p.His283Pro)
18g.60371503G>ACA402718950MC4Rc.847C>T (p.His283Tyr)
ClinVar dbSNP gnomAD v2
18g.60371503G>CCA402718951MC4Rc.847C>G (p.His283Asp)
18g.60371503G=CA2307358985MC4Rc.847C= (p.His283=)
18g.60371503G>TCA402718952MC4Rc.847C>A (p.His283Asn)
COSMIC
18g.60371504A>CCA504305173MC4Rc.846T>G (p.Ser282=)
18g.60371504A>GCA504305174MC4Rc.846T>C (p.Ser282=)
18g.60371504A>TCA504305175MC4Rc.846T>A (p.Ser282=)
18g.60371505G>ACA402718953MC4Rc.845C>T (p.Ser282Phe)
18g.60371505G>CCA402718955MC4Rc.845C>G (p.Ser282Cys)
18g.60371505G>TCA402718954MC4Rc.845C>A (p.Ser282Tyr)
18g.60371506A>CCA402718956MC4Rc.844T>G (p.Ser282Ala)
18g.60371506A>GCA402718958MC4Rc.844T>C (p.Ser282Pro)
18g.60371506A>TCA402718957MC4Rc.844T>A (p.Ser282Thr)
18g.60371507C>ACA402718959MC4Rc.843G>T (p.Met281Ile)
18g.60371507C=CA2307358986MC4Rc.843G= (p.Met281=)
18g.60371507C>GCA402718960MC4Rc.843G>C (p.Met281Ile)
18g.60371507C>TCA301530012MC4Rc.843G>A (p.Met281Ile)
dbSNP gnomAD v4
18g.60371508A>CCA402718961MC4Rc.842T>G (p.Met281Arg)
18g.60371508A>GCA402718962MC4Rc.842T>C (p.Met281Thr)
ClinVar
18g.60371508A>TCA402718963MC4Rc.842T>A (p.Met281Lys)
18g.60371509T>ACA402718964MC4Rc.841A>T (p.Met281Leu)
18g.60371509T>CCA402718965MC4Rc.841A>G (p.Met281Val)
gnomAD v4
18g.60371509T>GCA402718966MC4Rc.841A>C (p.Met281Leu)
gnomAD v4
18g.60371510G>ACA504305182MC4Rc.840C>T (p.Phe280=)
18g.60371510G>CCA402718967MC4Rc.840C>G (p.Phe280Leu)
18g.60371510G>TCA402718968MC4Rc.840C>A (p.Phe280Leu)
18g.60371511A>CCA402718971MC4Rc.839T>G (p.Phe280Cys)
18g.60371511A>GCA402718970MC4Rc.839T>C (p.Phe280Ser)
18g.60371511A>TCA402718969MC4Rc.839T>A (p.Phe280Tyr)
18g.60371512A=CA2307358987MC4Rc.838T= (p.Phe280=)
18g.60371512A>CCA402718972MC4Rc.838T>G (p.Phe280Val)
18g.60371512A>GCA8980826MC4Rc.838T>C (p.Phe280Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371512A>TCA402718973MC4Rc.838T>A (p.Phe280Ile)
18g.60371513G>ACA8980827MC4Rc.837C>T (p.Cys279=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371513G>CCA402718974MC4Rc.837C>G (p.Cys279Trp)
18g.60371513G=CA2307358988MC4Rc.837C= (p.Cys279=)
18g.60371513G>TCA402718975MC4Rc.837C>A (p.Cys279Ter)
gnomAD v4
18g.60371513_60371515delinsGCACA2307358989MC4Rc.835_837delinsTGC (p.Cys279=)
18g.60371514C>ACA402718976MC4Rc.836G>T (p.Cys279Phe)
18g.60371514C=CA2307358990MC4Rc.836G= (p.Cys279=)
18g.60371514C>GCA402718977MC4Rc.836G>C (p.Cys279Ser)
18g.60371514C>TCA402718978MC4Rc.836G>A (p.Cys279Tyr)
ClinVar dbSNP
18g.60371520_60371521dupCA214148MC4Rc.835_836dup (p.Phe280AlafsTer12)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371520_60371521delCA630399129MC4Rc.835_836del (p.Cys279LeufsTer6)
dbSNP gnomAD v2 gnomAD v4
18g.60371515A>CCA402718981MC4Rc.835T>G (p.Cys279Gly)
18g.60371515A>GCA402718980MC4Rc.835T>C (p.Cys279Arg)
ClinVar
18g.60371515A>TCA402718979MC4Rc.835T>A (p.Cys279Ser)
18g.60371516C>ACA504305197MC4Rc.834G>T (p.Val278=)
18g.60371516C=CA2307358991MC4Rc.834G= (p.Val278=)
18g.60371516C>GCA504305199MC4Rc.834G>C (p.Val278=)
18g.60371516C>TCA8980828MC4Rc.834G>A (p.Val278=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371517A>CCA402718982MC4Rc.833T>G (p.Val278Gly)
gnomAD v4
18g.60371517A>GCA402718983MC4Rc.833T>C (p.Val278Ala)
18g.60371517A>TCA402718984MC4Rc.833T>A (p.Val278Glu)
18g.60371518C>ACA402718985MC4Rc.832G>T (p.Val278Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371518C=CA2307358992MC4Rc.832G= (p.Val278=)
18g.60371518C>GCA402718986MC4Rc.832G>C (p.Val278Leu)
dbSNP gnomAD v2 gnomAD v4
18g.60371518C>TCA402718987MC4Rc.832G>A (p.Val278Met)
dbSNP gnomAD v4
18g.60371519A=CA2307358993MC4Rc.831T= (p.Cys277=)
18g.60371519A>CCA402718988MC4Rc.831T>G (p.Cys277Trp)
18g.60371519A>GCA504305205MC4Rc.831T>C (p.Cys277=)
COSMIC
18g.60371519A>TCA8980829MC4Rc.831T>A (p.Cys277Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371520C>ACA402718989MC4Rc.830G>T (p.Cys277Phe)
18g.60371520C>GCA402718990MC4Rc.830G>C (p.Cys277Ser)
18g.60371520C>TCA402718991MC4Rc.830G>A (p.Cys277Tyr)
18g.60371520_60371522delinsCAACA2307358994MC4Rc.828_830delinsTTG (p.Tyr276=)
18g.60371521A>CCA402718994MC4Rc.829T>G (p.Cys277Gly)
18g.60371521A>GCA402718993MC4Rc.829T>C (p.Cys277Arg)
18g.60371521A>TCA402718992MC4Rc.829T>A (p.Cys277Ser)
18g.60371521_60371522delCA781081168MC4Rc.828_829del (p.Tyr276Ter)
dbSNP gnomAD v3 gnomAD v4
18g.60371522A=CA2307358995MC4Rc.828T= (p.Tyr276=)
18g.60371522A>CCA402718995MC4Rc.828T>G (p.Tyr276Ter)
18g.60371522A>GCA8980830MC4Rc.828T>C (p.Tyr276=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371522A>TCA402718996MC4Rc.828T>A (p.Tyr276Ter)
18g.60371523T>ACA402718997MC4Rc.827A>T (p.Tyr276Phe)
18g.60371523T>CCA8980831MC4Rc.827A>G (p.Tyr276Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371523T>GCA402718998MC4Rc.827A>C (p.Tyr276Ser)
18g.60371523T=CA2307358996MC4Rc.827A= (p.Tyr276=)
18g.60371524A=CA2307358997MC4Rc.826T= (p.Tyr276=)
18g.60371524A>CCA402718999MC4Rc.826T>G (p.Tyr276Asp)
18g.60371524A>GCA402719000MC4Rc.826T>C (p.Tyr276His)
dbSNP gnomAD v2 gnomAD v4
18g.60371524A>TCA402719001MC4Rc.826T>A (p.Tyr276Asn)
18g.60371525T>ACA504305227MC4Rc.825A>T (p.Pro275=)
18g.60371525T>CCA504305225MC4Rc.825A>G (p.Pro275=)
gnomAD v4
18g.60371525T>GCA504305222MC4Rc.825A>C (p.Pro275=)
18g.60371526G>ACA402719002MC4Rc.824C>T (p.Pro275Leu)
18g.60371526G>CCA402719003MC4Rc.824C>G (p.Pro275Arg)
18g.60371526G>TCA402719004MC4Rc.824C>A (p.Pro275Gln)
18g.60371527G>ACA8980832MC4Rc.823C>T (p.Pro275Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371527G>CCA402719006MC4Rc.823C>G (p.Pro275Ala)
18g.60371527G=CA2307358998MC4Rc.823C= (p.Pro275=)
18g.60371527G>TCA402719005MC4Rc.823C>A (p.Pro275Thr)
18g.60371528A>CCA402719007MC4Rc.822T>G (p.Asn274Lys)
18g.60371528A>GCA504305235MC4Rc.822T>C (p.Asn274=)
18g.60371528A>TCA402719008MC4Rc.822T>A (p.Asn274Lys)
18g.60371529T>ACA402719009MC4Rc.821A>T (p.Asn274Ile)
18g.60371529T>CCA210717MC4Rc.821A>G (p.Asn274Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371529T>GCA402719010MC4Rc.821A>C (p.Asn274Thr)
18g.60371529T=CA2307358999MC4Rc.821A= (p.Asn274=)
18g.60371530T>ACA402719011MC4Rc.820A>T (p.Asn274Tyr)
18g.60371530T>CCA402719013MC4Rc.820A>G (p.Asn274Asp)
18g.60371530T>GCA402719012MC4Rc.820A>C (p.Asn274His)
18g.60371531C>ACA8980833MC4Rc.819G>T (p.Gln273His)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.60371531C=CA2307359000MC4Rc.819G= (p.Gln273=)
18g.60371531C>GCA402719014MC4Rc.819G>C (p.Gln273His)
18g.60371531C>TCA504305238MC4Rc.819G>A (p.Gln273=)
18g.60371532T>ACA402719015MC4Rc.818A>T (p.Gln273Leu)
18g.60371532T>CCA402719016MC4Rc.818A>G (p.Gln273Arg)
gnomAD v4
18g.60371532T>GCA402719017MC4Rc.818A>C (p.Gln273Pro)
18g.60371533G>ACA402719018MC4Rc.817C>T (p.Gln273Ter)
ClinVar dbSNP gnomAD v4
18g.60371533G>CCA402719019MC4Rc.817C>G (p.Gln273Glu)
18g.60371533G=CA2307359001MC4Rc.817C= (p.Gln273=)
18g.60371533G>TCA402719020MC4Rc.817C>A (p.Gln273Lys)
18g.60371534A>CCA504305248MC4Rc.816T>G (p.Pro272=)
18g.60371534A>GCA504305249MC4Rc.816T>C (p.Pro272=)
18g.60371534A>TCA504305251MC4Rc.816T>A (p.Pro272=)
18g.60371535G>ACA402719021MC4Rc.815C>T (p.Pro272Leu)
ClinVar
18g.60371535G>CCA402719022MC4Rc.815C>G (p.Pro272Arg)
ClinVar dbSNP
18g.60371535G=CA2307359002MC4Rc.815C= (p.Pro272=)
18g.60371535G>TCA402719023MC4Rc.815C>A (p.Pro272His)
18g.60371536G>ACA402719026MC4Rc.814C>T (p.Pro272Ser)
18g.60371536G>CCA402719025MC4Rc.814C>G (p.Pro272Ala)
18g.60371536G>TCA402719024MC4Rc.814C>A (p.Pro272Thr)
18g.60371537A>CCA402719027MC4Rc.813T>G (p.Cys271Trp)
18g.60371537A>GCA504305262MC4Rc.813T>C (p.Cys271=)
gnomAD v4
18g.60371537A>TCA402719028MC4Rc.813T>A (p.Cys271Ter)
18g.60371538C>ACA402719029MC4Rc.812G>T (p.Cys271Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371538C=CA2307359003MC4Rc.812G= (p.Cys271=)
18g.60371538C>GCA402719030MC4Rc.812G>C (p.Cys271Ser)
18g.60371538C>TCA210718MC4Rc.812G>A (p.Cys271Tyr)
ClinVar dbSNP gnomAD v4
18g.60371539A=CA2307359004MC4Rc.811T= (p.Cys271=)
18g.60371539A>CCA402719031MC4Rc.811T>G (p.Cys271Gly)
18g.60371539A>GCA16043070MC4Rc.811T>C (p.Cys271Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.60371539A>TCA402719032MC4Rc.811T>A (p.Cys271Ser)
18g.60371540A>CCA504305269MC4Rc.810T>G (p.Ser270=)
18g.60371540A>GCA504305270MC4Rc.810T>C (p.Ser270=)
18g.60371540A>TCA504305271MC4Rc.810T>A (p.Ser270=)
18g.60371541G>ACA301530013MC4Rc.809C>T (p.Ser270Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371541G>CCA402719033MC4Rc.809C>G (p.Ser270Cys)
18g.60371541G=CA2307359005MC4Rc.809C= (p.Ser270=)
18g.60371541G>TCA402719034MC4Rc.809C>A (p.Ser270Tyr)
18g.60371542A>CCA402719037MC4Rc.808T>G (p.Ser270Ala)
18g.60371542A>GCA402719036MC4Rc.808T>C (p.Ser270Pro)
18g.60371542A>TCA402719035MC4Rc.808T>A (p.Ser270Thr)
18g.60371543G>ACA504305135MC4Rc.807C>T (p.Ile269=)
18g.60371543G>CCA402719038MC4Rc.807C>G (p.Ile269Met)
18g.60371543G>TCA504305136MC4Rc.807C>A (p.Ile269=)
dbSNP COSMIC
18g.60371544A=CA2307359006MC4Rc.806T= (p.Ile269=)
18g.60371544A>CCA402719039MC4Rc.806T>G (p.Ile269Ser)
18g.60371544A>GCA402719040MC4Rc.806T>C (p.Ile269Thr)
18g.60371544A>TCA214146MC4Rc.806T>A (p.Ile269Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371545T>ACA402719041MC4Rc.805A>T (p.Ile269Phe)
18g.60371545T>CCA402719042MC4Rc.805A>G (p.Ile269Val)
dbSNP
18g.60371545T>GCA402719043MC4Rc.805A>C (p.Ile269Leu)
18g.60371545T=CA2307359007MC4Rc.805A= (p.Ile269=)
18g.60371546G>ACA504305142MC4Rc.804C>T (p.Tyr268=)
dbSNP gnomAD v3 gnomAD v4
18g.60371546G>CCA402719044MC4Rc.804C>G (p.Tyr268Ter)
18g.60371546G=CA2307359008MC4Rc.804C= (p.Tyr268=)
18g.60371546G>TCA402719045MC4Rc.804C>A (p.Tyr268Ter)
18g.60371547T>ACA402719046MC4Rc.803A>T (p.Tyr268Phe)
18g.60371547T>CCA402719047MC4Rc.803A>G (p.Tyr268Cys)
18g.60371547T>GCA402719048MC4Rc.803A>C (p.Tyr268Ser)
18g.60371548delCA2812704150MC4Rc.802del (p.Tyr268ThrfsTer23)
18g.60371548A>CCA402719051MC4Rc.802T>G (p.Tyr268Asp)
COSMIC
18g.60371548A>GCA402719050MC4Rc.802T>C (p.Tyr268His)
18g.60371548A>TCA402719049MC4Rc.802T>A (p.Tyr268Asn)
gnomAD v4
18g.60371549G>ACA504305148MC4Rc.801C>T (p.Phe267=)
18g.60371549G>CCA402719052MC4Rc.801C>G (p.Phe267Leu)
18g.60371549G>TCA402719053MC4Rc.801C>A (p.Phe267Leu)
18g.60371550A>CCA402719054MC4Rc.800T>G (p.Phe267Cys)
18g.60371550A>GCA402719055MC4Rc.800T>C (p.Phe267Ser)
18g.60371550A>TCA402719056MC4Rc.800T>A (p.Phe267Tyr)
18g.60371551A>CCA402719057MC4Rc.799T>G (p.Phe267Val)
18g.60371551A>GCA402719058MC4Rc.799T>C (p.Phe267Leu)
18g.60371551A>TCA402719059MC4Rc.799T>A (p.Phe267Ile)
18g.60371552T>ACA504305152MC4Rc.798A>T (p.Ile266=)
18g.60371552T>CCA402719060MC4Rc.798A>G (p.Ile266Met)
18g.60371552T>GCA504305153MC4Rc.798A>C (p.Ile266=)
18g.60371553A>CCA402719061MC4Rc.797T>G (p.Ile266Arg)
18g.60371553A>GCA402719062MC4Rc.797T>C (p.Ile266Thr)
18g.60371553A>TCA402719063MC4Rc.797T>A (p.Ile266Lys)
gnomAD v4
18g.60371554T>ACA402719065MC4Rc.796A>T (p.Ile266Leu)
18g.60371554T>CCA402719064MC4Rc.796A>G (p.Ile266Val)
gnomAD v4
18g.60371554T>GCA8980834MC4Rc.796A>C (p.Ile266Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371554T=CA2307359009MC4Rc.796A= (p.Ile266=)
18g.60371555T>ACA402719066MC4Rc.795A>T (p.Leu265Phe)
18g.60371555T>CCA504305159MC4Rc.795A>G (p.Leu265=)
gnomAD v4
18g.60371555T>GCA402719067MC4Rc.795A>C (p.Leu265Phe)
18g.60371556A>CCA402719068MC4Rc.794T>G (p.Leu265Ter)
18g.60371556A>GCA402719069MC4Rc.794T>C (p.Leu265Ser)
18g.60371556A>TCA402719070MC4Rc.794T>A (p.Leu265Ter)
18g.60371557A>CCA402719071MC4Rc.793T>G (p.Leu265Val)
18g.60371557A>GCA504305164MC4Rc.793T>C (p.Leu265=)
18g.60371557A>TCA402719072MC4Rc.793T>A (p.Leu265Ile)
18g.60371558G>ACA301530014MC4Rc.792C>T (p.His264=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371558G>CCA402719073MC4Rc.792C>G (p.His264Gln)
18g.60371558G=CA2307359010MC4Rc.792C= (p.His264=)
18g.60371558G>TCA402719074MC4Rc.792C>A (p.His264Gln)
18g.60371559T>ACA402719075MC4Rc.791A>T (p.His264Leu)
18g.60371559T>CCA402719076MC4Rc.791A>G (p.His264Arg)
dbSNP
18g.60371559T>GCA402719077MC4Rc.791A>C (p.His264Pro)
18g.60371559T=CA2307359011MC4Rc.791A= (p.His264=)
18g.60371560G>ACA402719078MC4Rc.790C>T (p.His264Tyr)
18g.60371560G>CCA402719079MC4Rc.790C>G (p.His264Asp)
18g.60371560G>TCA402719080MC4Rc.790C>A (p.His264Asn)
18g.60371561G>ACA504305168MC4Rc.789C>T (p.Leu263=)
18g.60371561G>CCA504305169MC4Rc.789C>G (p.Leu263=)
dbSNP gnomAD v3 gnomAD v4
18g.60371561G=CA2307359012MC4Rc.789C= (p.Leu263=)
18g.60371561G>TCA504305170MC4Rc.789C>A (p.Leu263=)
dbSNP
18g.60371562A=CA2307359013MC4Rc.788T= (p.Leu263=)
18g.60371562A>CCA402719081MC4Rc.788T>G (p.Leu263Arg)
18g.60371562A>GCA402719083MC4Rc.788T>C (p.Leu263Pro)
dbSNP gnomAD v2 gnomAD v4
18g.60371562A>TCA402719082MC4Rc.788T>A (p.Leu263His)
18g.60371563G>ACA402719084MC4Rc.787C>T (p.Leu263Phe)
18g.60371563G>CCA402719085MC4Rc.787C>G (p.Leu263Val)
18g.60371563G=CA2307359014MC4Rc.787C= (p.Leu263=)
18g.60371563G>TCA8980835MC4Rc.787C>A (p.Leu263Ile)
dbSNP ExAC gnomAD v2
18g.60371564G>ACA504305172MC4Rc.786C>T (p.Phe262=)
dbSNP
18g.60371564G>CCA402719086MC4Rc.786C>G (p.Phe262Leu)
18g.60371564G=CA2307359015MC4Rc.786C= (p.Phe262=)
18g.60371564G>TCA402719087MC4Rc.786C>A (p.Phe262Leu)
18g.60371564_60371565delinsGACA2307359016MC4Rc.785_786delinsTC (p.Phe262=)
18g.60371565A>CCA402719088MC4Rc.785T>G (p.Phe262Cys)
18g.60371565A>GCA402719089MC4Rc.785T>C (p.Phe262Ser)
18g.60371565A>TCA402719090MC4Rc.785T>A (p.Phe262Tyr)
18g.60371566delCA2307359017MC4Rc.785del (p.Phe262SerfsTer4)
dbSNP gnomAD v4
18g.60371566A=CA2307359018MC4Rc.784T= (p.Phe262=)
18g.60371566A>CCA402719091MC4Rc.784T>G (p.Phe262Val)
18g.60371566A>GCA402719092MC4Rc.784T>C (p.Phe262Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371566A>TCA402719093MC4Rc.784T>A (p.Phe262Ile)
18g.60371567G>ACA504305177MC4Rc.783C>T (p.Phe261=)
18g.60371567G>CCA402719095MC4Rc.783C>G (p.Phe261Leu)
dbSNP gnomAD v2 gnomAD v4
18g.60371567G=CA2307359019MC4Rc.783C= (p.Phe261=)
18g.60371567G>TCA402719094MC4Rc.783C>A (p.Phe261Leu)
18g.60371568A>CCA402719096MC4Rc.782T>G (p.Phe261Cys)
18g.60371568A>GCA402719097MC4Rc.782T>C (p.Phe261Ser)
18g.60371568A>TCA402719098MC4Rc.782T>A (p.Phe261Tyr)
18g.60371569A=CA2307359020MC4Rc.781T= (p.Phe261=)
18g.60371569A>CCA402719099MC4Rc.781T>G (p.Phe261Val)
18g.60371569A>GCA8980836MC4Rc.781T>C (p.Phe261Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371569A>TCA402719100MC4Rc.781T>A (p.Phe261Ile)
dbSNP gnomAD v3 gnomAD v4
18g.60371570T>ACA301530015MC4Rc.780A>T (p.Pro260=)
dbSNP
18g.60371570T>CCA504305179MC4Rc.780A>G (p.Pro260=)
dbSNP gnomAD v2 gnomAD v4
18g.60371570T>GCA504305180MC4Rc.780A>C (p.Pro260=)
18g.60371570T=CA2307359021MC4Rc.780A= (p.Pro260=)
18g.60371571G>ACA402719101MC4Rc.779C>T (p.Pro260Leu)
dbSNP gnomAD v2 gnomAD v4
18g.60371571G>CCA402719102MC4Rc.779C>G (p.Pro260Arg)
18g.60371571G=CA2307359022MC4Rc.779C= (p.Pro260=)
18g.60371571G>TCA402719103MC4Rc.779C>A (p.Pro260Gln)
ClinVar dbSNP gnomAD v4
18g.60371572G>ACA402719104MC4Rc.778C>T (p.Pro260Ser)
18g.60371572G>CCA8980837MC4Rc.778C>G (p.Pro260Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371572G=CA2307359023MC4Rc.778C= (p.Pro260=)
18g.60371572G>TCA402719105MC4Rc.778C>A (p.Pro260Thr)

Number of alleles fetched