| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.31394058C>A | CA389385912 | HEATR5A | c.766G>T (p.Gly256Ter) c.*862G>T (n.*862G>T) | |
| 14 | g.31394058C>G | CA389385913 | HEATR5A | c.766G>C (p.Gly256Arg) c.*862G>C (n.*862G>C) | |
| 14 | g.31394058C>T | CA389385916 | HEATR5A | c.766G>A (p.Gly256Arg) c.*862G>A (n.*862G>A) | |
| 14 | g.31394059T>A | CA485849696 | HEATR5A | c.765A>T (p.Pro255=) c.*861A>T (n.*861A>T) | |
| 14 | g.31394059T>C | CA485849697 | HEATR5A | c.765A>G (p.Pro255=) c.*861A>G (n.*861A>G) | gnomAD v4 |
| 14 | g.31394059T>G | CA485849699 | HEATR5A | c.765A>C (p.Pro255=) c.*861A>C (n.*861A>C) | |
| 14 | g.31394060G>A | CA389385920 | HEATR5A | c.764C>T (p.Pro255Leu) c.*860C>T (n.*860C>T) | |
| 14 | g.31394060G>C | CA389385924 | HEATR5A | c.764C>G (p.Pro255Arg) c.*860C>G (n.*860C>G) | |
| 14 | g.31394060G>T | CA389385927 | HEATR5A | c.764C>A (p.Pro255Gln) c.*860C>A (n.*860C>A) | gnomAD v4 |
| 14 | g.31394061G>A | CA389385936 | HEATR5A | c.763C>T (p.Pro255Ser) c.*859C>T (n.*859C>T) | |
| 14 | g.31394061G>C | CA389385938 | HEATR5A | c.763C>G (p.Pro255Ala) c.*859C>G (n.*859C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394061G= | CA2127219245 | HEATR5A | c.763C= (p.Pro255=) c.*859C= (n.*859C=) | |
| 14 | g.31394061G>T | CA389385932 | HEATR5A | c.763C>A (p.Pro255Thr) c.*859C>A (n.*859C>A) | |
| 14 | g.31394062A>C | CA389385943 | HEATR5A | c.762T>G (p.His254Gln) c.*858T>G (n.*858T>G) | |
| 14 | g.31394062A>G | CA485849700 | HEATR5A | c.762T>C (p.His254=) c.*858T>C (n.*858T>C) | |
| 14 | g.31394062A>T | CA389385945 | HEATR5A | c.762T>A (p.His254Gln) c.*858T>A (n.*858T>A) | gnomAD v4 |
| 14 | g.31394062_31394063del | CA2624480773 | HEATR5A | c.761_762del (p.His254ProfsTer?) c.*857_*858del (n.*857_*858del) | gnomAD v4 |
| 14 | g.31394063T>A | CA389385949 | HEATR5A | c.761A>T (p.His254Leu) c.*857A>T (n.*857A>T) | |
| 14 | g.31394063T>C | CA389385952 | HEATR5A | c.761A>G (p.His254Arg) c.*857A>G (n.*857A>G) | |
| 14 | g.31394063T>G | CA389385954 | HEATR5A | c.761A>C (p.His254Pro) c.*857A>C (n.*857A>C) | |
| 14 | g.31394064G>A | CA389385968 | HEATR5A | c.760C>T (p.His254Tyr) c.*856C>T (n.*856C>T) | |
| 14 | g.31394064G>C | CA389385971 | HEATR5A | c.760C>G (p.His254Asp) c.*856C>G (n.*856C>G) | |
| 14 | g.31394064G>T | CA389385975 | HEATR5A | c.760C>A (p.His254Asn) c.*856C>A (n.*856C>A) | |
| 14 | g.31394065T>A | CA389385978 | HEATR5A | c.759A>T (p.Lys253Asn) c.*855A>T (n.*855A>T) | |
| 14 | g.31394065T>C | CA485849701 | HEATR5A | c.759A>G (p.Lys253=) c.*855A>G (n.*855A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394065T>G | CA389385981 | HEATR5A | c.759A>C (p.Lys253Asn) c.*855A>C (n.*855A>C) | |
| 14 | g.31394065T= | CA2127219246 | HEATR5A | c.759A= (p.Lys253=) c.*855A= (n.*855A=) | |
| 14 | g.31394066T>A | CA389385985 | HEATR5A | c.758A>T (p.Lys253Ile) c.*854A>T (n.*854A>T) | |
| 14 | g.31394066T>C | CA389385992 | HEATR5A | c.758A>G (p.Lys253Arg) c.*854A>G (n.*854A>G) | |
| 14 | g.31394066T>G | CA389385994 | HEATR5A | c.758A>C (p.Lys253Thr) c.*854A>C (n.*854A>C) | |
| 14 | g.31394067T>A | CA389386003 | HEATR5A | c.757A>T (p.Lys253Ter) c.*853A>T (n.*853A>T) | |
| 14 | g.31394067T>C | CA389385999 | HEATR5A | c.757A>G (p.Lys253Glu) c.*853A>G (n.*853A>G) | |
| 14 | g.31394067T>G | CA389385998 | HEATR5A | c.757A>C (p.Lys253Gln) c.*853A>C (n.*853A>C) | |
| 14 | g.31394068A>C | CA485849705 | HEATR5A | c.756T>G (p.Ser252=) c.*852T>G (n.*852T>G) | |
| 14 | g.31394068A>G | CA485849704 | HEATR5A | c.756T>C (p.Ser252=) c.*852T>C (n.*852T>C) | gnomAD v4 |
| 14 | g.31394068A>T | CA485849703 | HEATR5A | c.756T>A (p.Ser252=) c.*852T>A (n.*852T>A) | |
| 14 | g.31394069G>A | CA389386008 | HEATR5A | c.755C>T (p.Ser252Phe) c.*851C>T (n.*851C>T) | |
| 14 | g.31394069G>C | CA7147410 | HEATR5A | c.755C>G (p.Ser252Cys) c.*851C>G (n.*851C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394069G= | CA2127219247 | HEATR5A | c.755C= (p.Ser252=) c.*851C= (n.*851C=) | |
| 14 | g.31394069G>T | CA389386014 | HEATR5A | c.755C>A (p.Ser252Tyr) c.*851C>A (n.*851C>A) | |
| 14 | g.31394070A>C | CA389386023 | HEATR5A | c.754T>G (p.Ser252Ala) c.*850T>G (n.*850T>G) | |
| 14 | g.31394070A>G | CA389386026 | HEATR5A | c.754T>C (p.Ser252Pro) c.*850T>C (n.*850T>C) | |
| 14 | g.31394070A>T | CA389386028 | HEATR5A | c.754T>A (p.Ser252Thr) c.*850T>A (n.*850T>A) | |
| 14 | g.31394072del | CA2624480774 | HEATR5A | c.754del (p.Ser252LeufsTer25) c.*850del (n.*850del) | gnomAD v4 |
| 14 | g.31394071A>C | CA389386032 | HEATR5A | c.753T>G (p.Ile251Met) c.*849T>G (n.*849T>G) | |
| 14 | g.31394071A>G | CA485849707 | HEATR5A | c.753T>C (p.Ile251=) c.*849T>C (n.*849T>C) | gnomAD v4 |
| 14 | g.31394071A>T | CA485849706 | HEATR5A | c.753T>A (p.Ile251=) c.*849T>A (n.*849T>A) | |
| 14 | g.31394072A= | CA2127219248 | HEATR5A | c.752T= (p.Ile251=) c.*848T= (n.*848T=) | |
| 14 | g.31394072A>C | CA389386033 | HEATR5A | c.752T>G (p.Ile251Ser) c.*848T>G (n.*848T>G) | |
| 14 | g.31394072A>G | CA7147411 | HEATR5A | c.752T>C (p.Ile251Thr) c.*848T>C (n.*848T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394072A>T | CA389386034 | HEATR5A | c.752T>A (p.Ile251Asn) c.*848T>A (n.*848T>A) | |
| 14 | g.31394073T>A | CA389386038 | HEATR5A | c.751A>T (p.Ile251Phe) c.*847A>T (n.*847A>T) | |
| 14 | g.31394073T>C | CA389386039 | HEATR5A | c.751A>G (p.Ile251Val) c.*847A>G (n.*847A>G) | gnomAD v4 |
| 14 | g.31394073T>G | CA389386042 | HEATR5A | c.751A>C (p.Ile251Leu) c.*847A>C (n.*847A>C) | |
| 14 | g.31394074T>A | CA485849708 | HEATR5A | c.750A>T (p.Val250=) c.*846A>T (n.*846A>T) | |
| 14 | g.31394074T>C | CA485849709 | HEATR5A | c.750A>G (p.Val250=) c.*846A>G (n.*846A>G) | gnomAD v4 |
| 14 | g.31394074T>G | CA485849710 | HEATR5A | c.750A>C (p.Val250=) c.*846A>C (n.*846A>C) | |
| 14 | g.31394075A>C | CA389386046 | HEATR5A | c.749T>G (p.Val250Gly) c.*845T>G (n.*845T>G) | |
| 14 | g.31394075A>G | CA389386054 | HEATR5A | c.749T>C (p.Val250Ala) c.*845T>C (n.*845T>C) | |
| 14 | g.31394075A>T | CA389386044 | HEATR5A | c.749T>A (p.Val250Glu) c.*845T>A (n.*845T>A) | |
| 14 | g.31394076C>A | CA389386056 | HEATR5A | c.748G>T (p.Val250Leu) c.*844G>T (n.*844G>T) | |
| 14 | g.31394076C= | CA2127219249 | HEATR5A | c.748G= (p.Val250=) c.*844G= (n.*844G=) | |
| 14 | g.31394076C>G | CA389386055 | HEATR5A | c.748G>C (p.Val250Leu) c.*844G>C (n.*844G>C) | |
| 14 | g.31394076C>T | CA389386063 | HEATR5A | c.748G>A (p.Val250Ile) c.*844G>A (n.*844G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394077A= | CA2127219250 | HEATR5A | c.747T= (p.Ala249=) c.*843T= (n.*843T=) | |
| 14 | g.31394077A>C | CA485849711 | HEATR5A | c.747T>G (p.Ala249=) c.*843T>G (n.*843T>G) | |
| 14 | g.31394077A>G | CA485849712 | HEATR5A | c.747T>C (p.Ala249=) c.*843T>C (n.*843T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394077A>T | CA485849713 | HEATR5A | c.747T>A (p.Ala249=) c.*843T>A (n.*843T>A) | gnomAD v4 |
| 14 | g.31394078G>A | CA389386068 | HEATR5A | c.746C>T (p.Ala249Val) c.*842C>T (n.*842C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394078G>C | CA389386071 | HEATR5A | c.746C>G (p.Ala249Gly) c.*842C>G (n.*842C>G) | |
| 14 | g.31394078G= | CA2127219251 | HEATR5A | c.746C= (p.Ala249=) c.*842C= (n.*842C=) | |
| 14 | g.31394078G>T | CA389386074 | HEATR5A | c.746C>A (p.Ala249Asp) c.*842C>A (n.*842C>A) | |
| 14 | g.31394079C>A | CA389386100 | HEATR5A | c.745G>T (p.Ala249Ser) c.*841G>T (n.*841G>T) | |
| 14 | g.31394079C= | CA2127219252 | HEATR5A | c.745G= (p.Ala249=) c.*841G= (n.*841G=) | |
| 14 | g.31394079C>G | CA389386106 | HEATR5A | c.745G>C (p.Ala249Pro) c.*841G>C (n.*841G>C) | dbSNP gnomAD v4 |
| 14 | g.31394079C>T | CA389386109 | HEATR5A | c.745G>A (p.Ala249Thr) c.*841G>A (n.*841G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394080T>A | CA389386113 | HEATR5A | c.744A>T (p.Lys248Asn) c.*840A>T (n.*840A>T) | |
| 14 | g.31394080T>C | CA485849714 | HEATR5A | c.744A>G (p.Lys248=) c.*840A>G (n.*840A>G) | |
| 14 | g.31394080T>G | CA389386115 | HEATR5A | c.744A>C (p.Lys248Asn) c.*840A>C (n.*840A>C) | |
| 14 | g.31394081T>A | CA389386116 | HEATR5A | c.743A>T (p.Lys248Ile) c.*839A>T (n.*839A>T) | |
| 14 | g.31394081T>C | CA389386119 | HEATR5A | c.743A>G (p.Lys248Arg) c.*839A>G (n.*839A>G) | |
| 14 | g.31394081T>G | CA389386121 | HEATR5A | c.743A>C (p.Lys248Thr) c.*839A>C (n.*839A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394081T= | CA2127219253 | HEATR5A | c.743A= (p.Lys248=) c.*839A= (n.*839A=) | |
| 14 | g.31394082T>A | CA389386126 | HEATR5A | c.742A>T (p.Lys248Ter) c.*838A>T (n.*838A>T) | |
| 14 | g.31394082T>C | CA389386128 | HEATR5A | c.742A>G (p.Lys248Glu) c.*838A>G (n.*838A>G) | |
| 14 | g.31394082T>G | CA389386132 | HEATR5A | c.742A>C (p.Lys248Gln) c.*838A>C (n.*838A>C) | |
| 14 | g.31394083A>C | CA485849715 | HEATR5A | c.741T>G (p.Ala247=) c.*837T>G (n.*837T>G) | |
| 14 | g.31394083A>G | CA485849716 | HEATR5A | c.741T>C (p.Ala247=) c.*837T>C (n.*837T>C) | |
| 14 | g.31394083A>T | CA485849717 | HEATR5A | c.741T>A (p.Ala247=) c.*837T>A (n.*837T>A) | |
| 14 | g.31394084G>A | CA389386141 | HEATR5A | c.740C>T (p.Ala247Val) c.*836C>T (n.*836C>T) | |
| 14 | g.31394084G>C | CA389386138 | HEATR5A | c.740C>G (p.Ala247Gly) c.*836C>G (n.*836C>G) | |
| 14 | g.31394084G>T | CA389386135 | HEATR5A | c.740C>A (p.Ala247Asp) c.*836C>A (n.*836C>A) | |
| 14 | g.31394085C>A | CA389386146 | HEATR5A | c.739G>T (p.Ala247Ser) c.*835G>T (n.*835G>T) | |
| 14 | g.31394085C>G | CA389386149 | HEATR5A | c.739G>C (p.Ala247Pro) c.*835G>C (n.*835G>C) | |
| 14 | g.31394085C>T | CA389386152 | HEATR5A | c.739G>A (p.Ala247Thr) c.*835G>A (n.*835G>A) | |
| 14 | g.31394086T>A | CA389386156 | HEATR5A | c.738A>T (p.Leu246Phe) c.*834A>T (n.*834A>T) | |
| 14 | g.31394086T>C | CA485849718 | HEATR5A | c.738A>G (p.Leu246=) c.*834A>G (n.*834A>G) | dbSNP |
| 14 | g.31394086T>G | CA389386159 | HEATR5A | c.738A>C (p.Leu246Phe) c.*834A>C (n.*834A>C) | gnomAD v4 |
| 14 | g.31394086T= | CA2127219254 | HEATR5A | c.738A= (p.Leu246=) c.*834A= (n.*834A=) | |
| 14 | g.31394087A>C | CA389386164 | HEATR5A | c.737T>G (p.Leu246Ter) c.*833T>G (n.*833T>G) | |
| 14 | g.31394087A>G | CA389386167 | HEATR5A | c.737T>C (p.Leu246Ser) c.*833T>C (n.*833T>C) | |
| 14 | g.31394087A>T | CA389386171 | HEATR5A | c.737T>A (p.Leu246Ter) c.*833T>A (n.*833T>A) | |
| 14 | g.31394088A>C | CA389386179 | HEATR5A | c.736T>G (p.Leu246Val) c.*832T>G (n.*832T>G) | gnomAD v4 |
| 14 | g.31394088A>G | CA485849719 | HEATR5A | c.736T>C (p.Leu246=) c.*832T>C (n.*832T>C) | gnomAD v4 |
| 14 | g.31394088A>T | CA389386181 | HEATR5A | c.736T>A (p.Leu246Ile) c.*832T>A (n.*832T>A) | |
| 14 | g.31394089T>A | CA485849720 | HEATR5A | c.735A>T (p.Ile245=) c.*831A>T (n.*831A>T) | |
| 14 | g.31394089T>C | CA389386187 | HEATR5A | c.735A>G (p.Ile245Met) c.*831A>G (n.*831A>G) | gnomAD v4 |
| 14 | g.31394089T>G | CA485849721 | HEATR5A | c.735A>C (p.Ile245=) c.*831A>C (n.*831A>C) | |
| 14 | g.31394092_31394094del | CA2624480775 | HEATR5A | c.733_735del (p.Ile245del) c.*829_*831del (n.*829_*831del) | gnomAD v4 |
| 14 | g.31394090A>C | CA389386191 | HEATR5A | c.734T>G (p.Ile245Arg) c.*830T>G (n.*830T>G) | gnomAD v4 |
| 14 | g.31394090A>G | CA389386193 | HEATR5A | c.734T>C (p.Ile245Thr) c.*830T>C (n.*830T>C) | |
| 14 | g.31394090A>T | CA389386198 | HEATR5A | c.734T>A (p.Ile245Lys) c.*830T>A (n.*830T>A) | |
| 14 | g.31394091T>A | CA389386209 | HEATR5A | c.733A>T (p.Ile245Leu) c.*829A>T (n.*829A>T) | |
| 14 | g.31394091T>C | CA389386215 | HEATR5A | c.733A>G (p.Ile245Val) c.*829A>G (n.*829A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394091T>G | CA389386207 | HEATR5A | c.733A>C (p.Ile245Leu) c.*829A>C (n.*829A>C) | |
| 14 | g.31394091T= | CA2127219255 | HEATR5A | c.733A= (p.Ile245=) c.*829A= (n.*829A=) | |
| 14 | g.31394092T>A | CA485849723 | HEATR5A | c.732A>T (p.Ile244=) c.*828A>T (n.*828A>T) | |
| 14 | g.31394092T>C | CA389386216 | HEATR5A | c.732A>G (p.Ile244Met) c.*828A>G (n.*828A>G) | gnomAD v4 |
| 14 | g.31394092T>G | CA485849722 | HEATR5A | c.732A>C (p.Ile244=) c.*828A>C (n.*828A>C) | gnomAD v4 |
| 14 | g.31394093A>C | CA389386218 | HEATR5A | c.731T>G (p.Ile244Arg) c.*827T>G (n.*827T>G) | |
| 14 | g.31394093A>G | CA389386220 | HEATR5A | c.731T>C (p.Ile244Thr) c.*827T>C (n.*827T>C) | |
| 14 | g.31394093A>T | CA389386226 | HEATR5A | c.731T>A (p.Ile244Lys) c.*827T>A (n.*827T>A) | |
| 14 | g.31394094T>A | CA389386228 | HEATR5A | c.730A>T (p.Ile244Leu) c.*826A>T (n.*826A>T) | |
| 14 | g.31394094T>C | CA389386229 | HEATR5A | c.730A>G (p.Ile244Val) c.*826A>G (n.*826A>G) | dbSNP gnomAD v4 |
| 14 | g.31394094T>G | CA389386230 | HEATR5A | c.730A>C (p.Ile244Leu) c.*826A>C (n.*826A>C) | |
| 14 | g.31394094T= | CA2127219256 | HEATR5A | c.730A= (p.Ile244=) c.*826A= (n.*826A=) | |
| 14 | g.31394095G>A | CA485849724 | HEATR5A | c.729C>T (p.Gly243=) c.*825C>T (n.*825C>T) | |
| 14 | g.31394095G>C | CA485849725 | HEATR5A | c.729C>G (p.Gly243=) c.*825C>G (n.*825C>G) | |
| 14 | g.31394095G>T | CA485849726 | HEATR5A | c.729C>A (p.Gly243=) c.*825C>A (n.*825C>A) | gnomAD v4 |
| 14 | g.31394096C>A | CA389386234 | HEATR5A | c.728G>T (p.Gly243Val) c.*824G>T (n.*824G>T) | dbSNP |
| 14 | g.31394096C= | CA2127219257 | HEATR5A | c.728G= (p.Gly243=) c.*824G= (n.*824G=) | |
| 14 | g.31394096C>G | CA389386235 | HEATR5A | c.728G>C (p.Gly243Ala) c.*824G>C (n.*824G>C) | |
| 14 | g.31394096C>T | CA389386236 | HEATR5A | c.728G>A (p.Gly243Asp) c.*824G>A (n.*824G>A) | |
| 14 | g.31394097C>A | CA389386237 | HEATR5A | c.727G>T (p.Gly243Cys) c.*823G>T (n.*823G>T) | |
| 14 | g.31394097C= | CA2127219258 | HEATR5A | c.727G= (p.Gly243=) c.*823G= (n.*823G=) | |
| 14 | g.31394097C>G | CA389386240 | HEATR5A | c.727G>C (p.Gly243Arg) c.*823G>C (n.*823G>C) | gnomAD v4 |
| 14 | g.31394097C>T | CA389386243 | HEATR5A | c.727G>A (p.Gly243Ser) c.*823G>A (n.*823G>A) | dbSNP |
| 14 | g.31394098T>A | CA485849729 | HEATR5A | c.726A>T (p.Leu242=) c.*822A>T (n.*822A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394098T>C | CA485849727 | HEATR5A | c.726A>G (p.Leu242=) c.*822A>G (n.*822A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394098T>G | CA485849728 | HEATR5A | c.726A>C (p.Leu242=) c.*822A>C (n.*822A>C) | |
| 14 | g.31394098T= | CA2127219259 | HEATR5A | c.726A= (p.Leu242=) c.*822A= (n.*822A=) | |
| 14 | g.31394099A>C | CA389386252 | HEATR5A | c.725T>G (p.Leu242Arg) c.*821T>G (n.*821T>G) | |
| 14 | g.31394099A>G | CA389386247 | HEATR5A | c.725T>C (p.Leu242Pro) c.*821T>C (n.*821T>C) | gnomAD v4 |
| 14 | g.31394099A>T | CA389386248 | HEATR5A | c.725T>A (p.Leu242Gln) c.*821T>A (n.*821T>A) | |
| 14 | g.31394100G>A | CA485849730 | HEATR5A | c.724C>T (p.Leu242=) c.*820C>T (n.*820C>T) | |
| 14 | g.31394100G>C | CA389386254 | HEATR5A | c.724C>G (p.Leu242Val) c.*820C>G (n.*820C>G) | |
| 14 | g.31394100G>T | CA389386255 | HEATR5A | c.724C>A (p.Leu242Ile) c.*820C>A (n.*820C>A) | |
| 14 | g.31394101T>A | CA389386259 | HEATR5A | c.723A>T (p.Leu241Phe) c.*819A>T (n.*819A>T) | |
| 14 | g.31394101T>C | CA485849731 | HEATR5A | c.723A>G (p.Leu241=) c.*819A>G (n.*819A>G) | |
| 14 | g.31394101T>G | CA389386262 | HEATR5A | c.723A>C (p.Leu241Phe) c.*819A>C (n.*819A>C) | |
| 14 | g.31394102A>C | CA389386269 | HEATR5A | c.722T>G (p.Leu241Ter) c.*818T>G (n.*818T>G) | |
| 14 | g.31394102A>G | CA389386270 | HEATR5A | c.722T>C (p.Leu241Ser) c.*818T>C (n.*818T>C) | |
| 14 | g.31394102A>T | CA389386271 | HEATR5A | c.722T>A (p.Leu241Ter) c.*818T>A (n.*818T>A) | gnomAD v4 |
| 14 | g.31394103A>C | CA389386272 | HEATR5A | c.721T>G (p.Leu241Val) c.*817T>G (n.*817T>G) | |
| 14 | g.31394103A>G | CA485849732 | HEATR5A | c.721T>C (p.Leu241=) c.*817T>C (n.*817T>C) | |
| 14 | g.31394103A>T | CA389386278 | HEATR5A | c.721T>A (p.Leu241Ile) c.*817T>A (n.*817T>A) | |
| 14 | g.31394104C>A | CA389386279 | HEATR5A | c.720G>T (p.Lys240Asn) c.*816G>T (n.*816G>T) | |
| 14 | g.31394104C= | CA2127219260 | HEATR5A | c.720G= (p.Lys240=) c.*816G= (n.*816G=) | |
| 14 | g.31394104C>G | CA389386280 | HEATR5A | c.720G>C (p.Lys240Asn) c.*816G>C (n.*816G>C) | |
| 14 | g.31394104C>T | CA485849733 | HEATR5A | c.720G>A (p.Lys240=) c.*816G>A (n.*816G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394105T>A | CA389386284 | HEATR5A | c.719A>T (p.Lys240Met) c.*815A>T (n.*815A>T) | |
| 14 | g.31394105T>C | CA389386303 | HEATR5A | c.719A>G (p.Lys240Arg) c.*815A>G (n.*815A>G) | |
| 14 | g.31394105T>G | CA389386300 | HEATR5A | c.719A>C (p.Lys240Thr) c.*815A>C (n.*815A>C) | |
| 14 | g.31394106T>A | CA389386309 | HEATR5A | c.718A>T (p.Lys240Ter) c.*814A>T (n.*814A>T) | |
| 14 | g.31394106T>C | CA389386321 | HEATR5A | c.718A>G (p.Lys240Glu) c.*814A>G (n.*814A>G) | |
| 14 | g.31394106T>G | CA389386313 | HEATR5A | c.718A>C (p.Lys240Gln) c.*814A>C (n.*814A>C) | |
| 14 | g.31394107T>A | CA485849734 | HEATR5A | c.717A>T (p.Ser239=) c.*813A>T (n.*813A>T) | |
| 14 | g.31394107T>C | CA485849735 | HEATR5A | c.717A>G (p.Ser239=) c.*813A>G (n.*813A>G) | |
| 14 | g.31394107T>G | CA485849736 | HEATR5A | c.717A>C (p.Ser239=) c.*813A>C (n.*813A>C) | |
| 14 | g.31394108G>A | CA389386328 | HEATR5A | c.716C>T (p.Ser239Leu) c.*812C>T (n.*812C>T) | dbSNP |
| 14 | g.31394108G>C | CA389386331 | HEATR5A | c.716C>G (p.Ser239Ter) c.*812C>G (n.*812C>G) | |
| 14 | g.31394108G= | CA2127219261 | HEATR5A | c.716C= (p.Ser239=) c.*812C= (n.*812C=) | |
| 14 | g.31394108G>T | CA389386334 | HEATR5A | c.716C>A (p.Ser239Ter) c.*812C>A (n.*812C>A) | COSMIC COSMIC COSMIC |
| 14 | g.31394109A= | CA2127219262 | HEATR5A | c.715T= (p.Ser239=) c.*811T= (n.*811T=) | |
| 14 | g.31394109A>C | CA389386340 | HEATR5A | c.715T>G (p.Ser239Ala) c.*811T>G (n.*811T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394109A>G | CA389386344 | HEATR5A | c.715T>C (p.Ser239Pro) c.*811T>C (n.*811T>C) | |
| 14 | g.31394109A>T | CA389386348 | HEATR5A | c.715T>A (p.Ser239Thr) c.*811T>A (n.*811T>A) | |
| 14 | g.31394110A>C | CA485849737 | HEATR5A | c.714T>G (p.Val238=) c.*810T>G (n.*810T>G) | |
| 14 | g.31394110A>G | CA485849738 | HEATR5A | c.714T>C (p.Val238=) c.*810T>C (n.*810T>C) | |
| 14 | g.31394110A>T | CA485849739 | HEATR5A | c.714T>A (p.Val238=) c.*810T>A (n.*810T>A) | |
| 14 | g.31394111A>C | CA389386353 | HEATR5A | c.713T>G (p.Val238Gly) c.*809T>G (n.*809T>G) | |
| 14 | g.31394111A>G | CA389386356 | HEATR5A | c.713T>C (p.Val238Ala) c.*809T>C (n.*809T>C) | |
| 14 | g.31394111A>T | CA389386360 | HEATR5A | c.713T>A (p.Val238Asp) c.*809T>A (n.*809T>A) | |
| 14 | g.31394112C>A | CA389386363 | HEATR5A | c.712G>T (p.Val238Phe) c.*808G>T (n.*808G>T) | |
| 14 | g.31394112C= | CA2127219263 | HEATR5A | c.712G= (p.Val238=) c.*808G= (n.*808G=) | |
| 14 | g.31394112C>G | CA389386367 | HEATR5A | c.712G>C (p.Val238Leu) c.*808G>C (n.*808G>C) | |
| 14 | g.31394112C>T | CA389386369 | HEATR5A | c.712G>A (p.Val238Ile) c.*808G>A (n.*808G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394113A= | CA2127219264 | HEATR5A | c.711T= (p.Ser237=) c.*807T= (n.*807T=) | |
| 14 | g.31394113A>C | CA485849740 | HEATR5A | c.711T>G (p.Ser237=) c.*807T>G (n.*807T>G) | |
| 14 | g.31394113A>G | CA485849741 | HEATR5A | c.711T>C (p.Ser237=) c.*807T>C (n.*807T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394113A>T | CA485849742 | HEATR5A | c.711T>A (p.Ser237=) c.*807T>A (n.*807T>A) | |
| 14 | g.31394114G>A | CA389386373 | HEATR5A | c.710C>T (p.Ser237Phe) c.*806C>T (n.*806C>T) | |
| 14 | g.31394114G>C | CA389386371 | HEATR5A | c.710C>G (p.Ser237Cys) c.*806C>G (n.*806C>G) | |
| 14 | g.31394114G>T | CA389386372 | HEATR5A | c.710C>A (p.Ser237Tyr) c.*806C>A (n.*806C>A) | |
| 14 | g.31394115A>C | CA389386380 | HEATR5A | c.709T>G (p.Ser237Ala) c.*805T>G (n.*805T>G) | |
| 14 | g.31394115A>G | CA389386383 | HEATR5A | c.709T>C (p.Ser237Pro) c.*805T>C (n.*805T>C) | |
| 14 | g.31394115A>T | CA389386392 | HEATR5A | c.709T>A (p.Ser237Thr) c.*805T>A (n.*805T>A) | |
| 14 | g.31394116A>C | CA389386400 | HEATR5A | c.708T>G (p.Ile236Met) c.*804T>G (n.*804T>G) | |
| 14 | g.31394116A>G | CA485849743 | HEATR5A | c.708T>C (p.Ile236=) c.*804T>C (n.*804T>C) | |
| 14 | g.31394116A>T | CA485849744 | HEATR5A | c.708T>A (p.Ile236=) c.*804T>A (n.*804T>A) | |
| 14 | g.31394117A>C | CA389386409 | HEATR5A | c.707T>G (p.Ile236Ser) c.*803T>G (n.*803T>G) | |
| 14 | g.31394117A>G | CA389386412 | HEATR5A | c.707T>C (p.Ile236Thr) c.*803T>C (n.*803T>C) | |
| 14 | g.31394117A>T | CA389386415 | HEATR5A | c.707T>A (p.Ile236Asn) c.*803T>A (n.*803T>A) | |
| 14 | g.31394118T>A | CA389386422 | HEATR5A | c.706A>T (p.Ile236Phe) c.*802A>T (n.*802A>T) | |
| 14 | g.31394118T>C | CA389386448 | HEATR5A | c.706A>G (p.Ile236Val) c.*802A>G (n.*802A>G) | |
| 14 | g.31394118T>G | CA389386453 | HEATR5A | c.706A>C (p.Ile236Leu) c.*802A>C (n.*802A>C) | |
| 14 | g.31394119C>A | CA485849745 | HEATR5A | c.705G>T (p.Arg235=) c.*801G>T (n.*801G>T) | |
| 14 | g.31394119C>G | CA485849747 | HEATR5A | c.705G>C (p.Arg235=) c.*801G>C (n.*801G>C) | |
| 14 | g.31394119C>T | CA485849746 | HEATR5A | c.705G>A (p.Arg235=) c.*801G>A (n.*801G>A) | |
| 14 | g.31394120C>A | CA389386473 | HEATR5A | c.704G>T (p.Arg235Leu) c.*800G>T (n.*800G>T) | |
| 14 | g.31394120C= | CA2127219265 | HEATR5A | c.704G= (p.Arg235=) c.*800G= (n.*800G=) | |
| 14 | g.31394120C>G | CA389386470 | HEATR5A | c.704G>C (p.Arg235Pro) c.*800G>C (n.*800G>C) | |
| 14 | g.31394120C>T | CA7147412 | HEATR5A | c.704G>A (p.Arg235Gln) c.*800G>A (n.*800G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394121del | CA2575502495 | HEATR5A | c.703del (p.Arg235GlyfsTer8) c.*799del (n.*799del) | |
| 14 | g.31394121G>A | CA258630433 | HEATR5A | c.703C>T (p.Arg235Trp) c.*799C>T (n.*799C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 14 | g.31394121G>C | CA258630436 | HEATR5A | c.703C>G (p.Arg235Gly) c.*799C>G (n.*799C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394121G= | CA2127219266 | HEATR5A | c.703C= (p.Arg235=) c.*799C= (n.*799C=) | |
| 14 | g.31394121G>T | CA485849748 | HEATR5A | c.703C>A (p.Arg235=) c.*799C>A (n.*799C>A) | gnomAD v4 |
| 14 | g.31394122C>A | CA485849749 | HEATR5A | c.702G>T (p.Val234=) c.*798G>T (n.*798G>T) | |
| 14 | g.31394122C= | CA2127219267 | HEATR5A | c.702G= (p.Val234=) c.*798G= (n.*798G=) | |
| 14 | g.31394122C>G | CA485849750 | HEATR5A | c.702G>C (p.Val234=) c.*798G>C (n.*798G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394122C>T | CA485849751 | HEATR5A | c.702G>A (p.Val234=) c.*798G>A (n.*798G>A) | |
| 14 | g.31394123A>C | CA389386481 | HEATR5A | c.701T>G (p.Val234Gly) c.*797T>G (n.*797T>G) | |
| 14 | g.31394123A>G | CA389386483 | HEATR5A | c.701T>C (p.Val234Ala) c.*797T>C (n.*797T>C) | |
| 14 | g.31394123A>T | CA389386486 | HEATR5A | c.701T>A (p.Val234Glu) c.*797T>A (n.*797T>A) | |
| 14 | g.31394123_31394126delinsACAT | CA2127219268 | HEATR5A | c.698_701delinsATGT (p.Asp233=) c.*794_*797delinsATGT (n.*794_*797delinsATGT) | |
| 14 | g.31394124C>A | CA389386506 | HEATR5A | c.700G>T (p.Val234Leu) c.*796G>T (n.*796G>T) | |
| 14 | g.31394124C= | CA2127219269 | HEATR5A | c.700G= (p.Val234=) c.*796G= (n.*796G=) | |
| 14 | g.31394124C>G | CA389386500 | HEATR5A | c.700G>C (p.Val234Leu) c.*796G>C (n.*796G>C) | |
| 14 | g.31394124C>T | CA389386493 | HEATR5A | c.700G>A (p.Val234Met) c.*796G>A (n.*796G>A) | dbSNP |
| 14 | g.31394127_31394129del | CA2127219270 | HEATR5A | c.698_700del (p.Asp233del) c.*794_*796del (n.*794_*796del) | dbSNP |
| 14 | g.31394124_31394125insTATG | CA704960293 | HEATR5A | c.699_700insCATA (p.Val234HisfsTer16) c.*795_*796insCATA (n.*795_*796insCATA) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394125A= | CA2127219271 | HEATR5A | c.699T= (p.Asp233=) c.*795T= (n.*795T=) | |
| 14 | g.31394125A>C | CA389386518 | HEATR5A | c.699T>G (p.Asp233Glu) c.*795T>G (n.*795T>G) | |
| 14 | g.31394125A>G | CA258630441 | HEATR5A | c.699T>C (p.Asp233=) c.*795T>C (n.*795T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394125A>T | CA389386533 | HEATR5A | c.699T>A (p.Asp233Glu) c.*795T>A (n.*795T>A) | |
| 14 | g.31394126T>A | CA389386537 | HEATR5A | c.698A>T (p.Asp233Val) c.*794A>T (n.*794A>T) | gnomAD v4 |
| 14 | g.31394126T>C | CA389386540 | HEATR5A | c.698A>G (p.Asp233Gly) c.*794A>G (n.*794A>G) | |
| 14 | g.31394126T>G | CA389386545 | HEATR5A | c.698A>C (p.Asp233Ala) c.*794A>C (n.*794A>C) | |
| 14 | g.31394127C>A | CA389386551 | HEATR5A | c.697G>T (p.Asp233Tyr) c.*793G>T (n.*793G>T) | |
| 14 | g.31394127C>G | CA389386553 | HEATR5A | c.697G>C (p.Asp233His) c.*793G>C (n.*793G>C) | |
| 14 | g.31394127C>T | CA389386552 | HEATR5A | c.697G>A (p.Asp233Asn) c.*793G>A (n.*793G>A) | |
| 14 | g.31394128A>C | CA389386555 | HEATR5A | c.696T>G (p.Tyr232Ter) c.*792T>G (n.*792T>G) | |
| 14 | g.31394128A>G | CA485849753 | HEATR5A | c.696T>C (p.Tyr232=) c.*792T>C (n.*792T>C) | |
| 14 | g.31394128A>T | CA389386557 | HEATR5A | c.696T>A (p.Tyr232Ter) c.*792T>A (n.*792T>A) | |
| 14 | g.31394129_31394130del | CA2624480776 | HEATR5A | c.695_696del (p.Tyr232Ter) c.*791_*792del (n.*791_*792del) | gnomAD v4 |
| 14 | g.31394129T>A | CA389386564 | HEATR5A | c.695A>T (p.Tyr232Phe) c.*791A>T (n.*791A>T) | dbSNP |
| 14 | g.31394129T>C | CA389386568 | HEATR5A | c.695A>G (p.Tyr232Cys) c.*791A>G (n.*791A>G) | gnomAD v4 |
| 14 | g.31394129T>G | CA389386572 | HEATR5A | c.695A>C (p.Tyr232Ser) c.*791A>C (n.*791A>C) | |
| 14 | g.31394129T= | CA2127219272 | HEATR5A | c.695A= (p.Tyr232=) c.*791A= (n.*791A=) | |
| 14 | g.31394130A>C | CA389386594 | HEATR5A | c.694T>G (p.Tyr232Asp) c.*790T>G (n.*790T>G) | |
| 14 | g.31394130A>G | CA389386595 | HEATR5A | c.694T>C (p.Tyr232His) c.*790T>C (n.*790T>C) | |
| 14 | g.31394130A>T | CA389386596 | HEATR5A | c.694T>A (p.Tyr232Asn) c.*790T>A (n.*790T>A) | |
| 14 | g.31394131A>C | CA389386599 | HEATR5A | c.693T>G (p.Asn231Lys) c.*789T>G (n.*789T>G) | |
| 14 | g.31394131A>G | CA485849754 | HEATR5A | c.693T>C (p.Asn231=) c.*789T>C (n.*789T>C) | |
| 14 | g.31394131A>T | CA389386600 | HEATR5A | c.693T>A (p.Asn231Lys) c.*789T>A (n.*789T>A) | gnomAD v4 |
| 14 | g.31394132T>A | CA389386618 | HEATR5A | c.692A>T (p.Asn231Ile) c.*788A>T (n.*788A>T) | |
| 14 | g.31394132T>C | CA389386615 | HEATR5A | c.692A>G (p.Asn231Ser) c.*788A>G (n.*788A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394132T>G | CA389386611 | HEATR5A | c.692A>C (p.Asn231Thr) c.*788A>C (n.*788A>C) | |
| 14 | g.31394132T= | CA2127219273 | HEATR5A | c.692A= (p.Asn231=) c.*788A= (n.*788A=) | |
| 14 | g.31394133T>A | CA389386625 | HEATR5A | c.691A>T (p.Asn231Tyr) c.*787A>T (n.*787A>T) | |
| 14 | g.31394133T>C | CA389386638 | HEATR5A | c.691A>G (p.Asn231Asp) c.*787A>G (n.*787A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394133T>G | CA389386628 | HEATR5A | c.691A>C (p.Asn231His) c.*787A>C (n.*787A>C) | |
| 14 | g.31394133T= | CA2127219274 | HEATR5A | c.691A= (p.Asn231=) c.*787A= (n.*787A=) | |
| 14 | g.31394134G>A | CA485849755 | HEATR5A | c.690C>T (p.Ser230=) c.*786C>T (n.*786C>T) | gnomAD v4 |
| 14 | g.31394134G>C | CA485849756 | HEATR5A | c.690C>G (p.Ser230=) c.*786C>G (n.*786C>G) | |
| 14 | g.31394134G>T | CA485849757 | HEATR5A | c.690C>A (p.Ser230=) c.*786C>A (n.*786C>A) | |
| 14 | g.31394135G>A | CA389386644 | HEATR5A | c.689C>T (p.Ser230Phe) c.*785C>T (n.*785C>T) | |
| 14 | g.31394135G>C | CA389386651 | HEATR5A | c.689C>G (p.Ser230Cys) c.*785C>G (n.*785C>G) | |
| 14 | g.31394135G>T | CA389386647 | HEATR5A | c.689C>A (p.Ser230Tyr) c.*785C>A (n.*785C>A) | |
| 14 | g.31394136A= | CA2127219275 | HEATR5A | c.688T= (p.Ser230=) c.*784T= (n.*784T=) | |
| 14 | g.31394136A>C | CA389386655 | HEATR5A | c.688T>G (p.Ser230Ala) c.*784T>G (n.*784T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394136A>G | CA389386662 | HEATR5A | c.688T>C (p.Ser230Pro) c.*784T>C (n.*784T>C) | |
| 14 | g.31394136A>T | CA389386669 | HEATR5A | c.688T>A (p.Ser230Thr) c.*784T>A (n.*784T>A) | |
| 14 | g.31394137A>C | CA485849758 | HEATR5A | c.687T>G (p.Gly229=) c.*783T>G (n.*783T>G) | |
| 14 | g.31394137A>G | CA485849759 | HEATR5A | c.687T>C (p.Gly229=) c.*783T>C (n.*783T>C) | |
| 14 | g.31394137A>T | CA485849760 | HEATR5A | c.687T>A (p.Gly229=) c.*783T>A (n.*783T>A) | |
| 14 | g.31394138C>A | CA389386672 | HEATR5A | c.686G>T (p.Gly229Val) c.*782G>T (n.*782G>T) | gnomAD v4 |
| 14 | g.31394138C= | CA2127219276 | HEATR5A | c.686G= (p.Gly229=) c.*782G= (n.*782G=) | |
| 14 | g.31394138C>G | CA389386674 | HEATR5A | c.686G>C (p.Gly229Ala) c.*782G>C (n.*782G>C) | gnomAD v4 |
| 14 | g.31394138C>T | CA389386675 | HEATR5A | c.686G>A (p.Gly229Asp) c.*782G>A (n.*782G>A) | dbSNP gnomAD v4 |
| 14 | g.31394139C>A | CA389386679 | HEATR5A | c.685G>T (p.Gly229Cys) c.*781G>T (n.*781G>T) | |
| 14 | g.31394139C>G | CA389386686 | HEATR5A | c.685G>C (p.Gly229Arg) c.*781G>C (n.*781G>C) | |
| 14 | g.31394139C>T | CA389386689 | HEATR5A | c.685G>A (p.Gly229Ser) c.*781G>A (n.*781G>A) | |
| 14 | g.31394140T>A | CA389386697 | HEATR5A | c.684A>T (p.Glu228Asp) c.*780A>T (n.*780A>T) | |
| 14 | g.31394140T>C | CA485849761 | HEATR5A | c.684A>G (p.Glu228=) c.*780A>G (n.*780A>G) | |
| 14 | g.31394140T>G | CA389386701 | HEATR5A | c.684A>C (p.Glu228Asp) c.*780A>C (n.*780A>C) | |
| 14 | g.31394141T>A | CA389386721 | HEATR5A | c.683A>T (p.Glu228Val) c.*779A>T (n.*779A>T) | |
| 14 | g.31394141T>C | CA389386716 | HEATR5A | c.683A>G (p.Glu228Gly) c.*779A>G (n.*779A>G) | gnomAD v4 |
| 14 | g.31394141T>G | CA389386712 | HEATR5A | c.683A>C (p.Glu228Ala) c.*779A>C (n.*779A>C) | |
| 14 | g.31394142C>A | CA389386723 | HEATR5A | c.682G>T (p.Glu228Ter) c.*778G>T (n.*778G>T) | |
| 14 | g.31394142C>G | CA389386725 | HEATR5A | c.682G>C (p.Glu228Gln) c.*778G>C (n.*778G>C) | |
| 14 | g.31394142C>T | CA389386727 | HEATR5A | c.682G>A (p.Glu228Lys) c.*778G>A (n.*778G>A) | |
| 14 | g.31394143A>C | CA389386730 | HEATR5A | c.681T>G (p.Phe227Leu) c.*777T>G (n.*777T>G) | |
| 14 | g.31394143A>G | CA485849762 | HEATR5A | c.681T>C (p.Phe227=) c.*777T>C (n.*777T>C) | |
| 14 | g.31394143A>T | CA389386733 | HEATR5A | c.681T>A (p.Phe227Leu) c.*777T>A (n.*777T>A) | |
| 14 | g.31394144A= | CA2127219277 | HEATR5A | c.680T= (p.Phe227=) c.*776T= (n.*776T=) | |
| 14 | g.31394144A>C | CA389386740 | HEATR5A | c.680T>G (p.Phe227Cys) c.*776T>G (n.*776T>G) | |
| 14 | g.31394144A>G | CA389386756 | HEATR5A | c.680T>C (p.Phe227Ser) c.*776T>C (n.*776T>C) | |
| 14 | g.31394144A>T | CA258630445 | HEATR5A | c.680T>A (p.Phe227Tyr) c.*776T>A (n.*776T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.31394145A>C | CA389386769 | HEATR5A | c.679T>G (p.Phe227Val) c.*775T>G (n.*775T>G) | |
| 14 | g.31394145A>G | CA389386782 | HEATR5A | c.679T>C (p.Phe227Leu) c.*775T>C (n.*775T>C) | |
| 14 | g.31394145A>T | CA389386788 | HEATR5A | c.679T>A (p.Phe227Ile) c.*775T>A (n.*775T>A) | |
| 14 | g.31394146G>A | CA485849763 | HEATR5A | c.678C>T (p.Ser226=) c.*774C>T (n.*774C>T) | dbSNP gnomAD v4 |
| 14 | g.31394146G>C | CA485849764 | HEATR5A | c.678C>G (p.Ser226=) c.*774C>G (n.*774C>G) | |
| 14 | g.31394146G= | CA2127219278 | HEATR5A | c.678C= (p.Ser226=) c.*774C= (n.*774C=) | |
| 14 | g.31394146G>T | CA485849765 | HEATR5A | c.678C>A (p.Ser226=) c.*774C>A (n.*774C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394147G>A | CA389386794 | HEATR5A | c.677C>T (p.Ser226Phe) c.*773C>T (n.*773C>T) | |
| 14 | g.31394147G>C | CA389386793 | HEATR5A | c.677C>G (p.Ser226Cys) c.*773C>G (n.*773C>G) | dbSNP |
| 14 | g.31394147G= | CA2127219279 | HEATR5A | c.677C= (p.Ser226=) c.*773C= (n.*773C=) | |
| 14 | g.31394147G>T | CA389386791 | HEATR5A | c.677C>A (p.Ser226Tyr) c.*773C>A (n.*773C>A) | |
| 14 | g.31394148A>C | CA389386798 | HEATR5A | c.676T>G (p.Ser226Ala) c.*772T>G (n.*772T>G) | |
| 14 | g.31394148A>G | CA389386803 | HEATR5A | c.676T>C (p.Ser226Pro) c.*772T>C (n.*772T>C) | gnomAD v4 |
| 14 | g.31394148A>T | CA389386810 | HEATR5A | c.676T>A (p.Ser226Thr) c.*772T>A (n.*772T>A) | |
| 14 | g.31394149C>A | CA389386812 | HEATR5A | c.675G>T (p.Lys225Asn) c.*771G>T (n.*771G>T) | |
| 14 | g.31394149C= | CA2127219280 | HEATR5A | c.675G= (p.Lys225=) c.*771G= (n.*771G=) | |
| 14 | g.31394149C>G | CA389386818 | HEATR5A | c.675G>C (p.Lys225Asn) c.*771G>C (n.*771G>C) | gnomAD v4 |
| 14 | g.31394149C>T | CA258630454 | HEATR5A | c.675G>A (p.Lys225=) c.*771G>A (n.*771G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394150T>A | CA389386823 | HEATR5A | c.674A>T (p.Lys225Met) c.*770A>T (n.*770A>T) | |
| 14 | g.31394150T>C | CA389386826 | HEATR5A | c.674A>G (p.Lys225Arg) c.*770A>G (n.*770A>G) | |
| 14 | g.31394150T>G | CA389386830 | HEATR5A | c.674A>C (p.Lys225Thr) c.*770A>C (n.*770A>C) | |
| 14 | g.31394151T>A | CA389386844 | HEATR5A | c.673A>T (p.Lys225Ter) c.*769A>T (n.*769A>T) | |
| 14 | g.31394151T>C | CA389386852 | HEATR5A | c.673A>G (p.Lys225Glu) c.*769A>G (n.*769A>G) | |
| 14 | g.31394151T>G | CA389386856 | HEATR5A | c.673A>C (p.Lys225Gln) c.*769A>C (n.*769A>C) | |
| 14 | g.31394152A= | CA2127219281 | HEATR5A | c.672T= (p.Phe224=) c.*768T= (n.*768T=) | |
| 14 | g.31394152A>C | CA389386860 | HEATR5A | c.672T>G (p.Phe224Leu) c.*768T>G (n.*768T>G) | |
| 14 | g.31394152A>G | CA485849766 | HEATR5A | c.672T>C (p.Phe224=) c.*768T>C (n.*768T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.31394152A>T | CA389386861 | HEATR5A | c.672T>A (p.Phe224Leu) c.*768T>A (n.*768T>A) | |
| 14 | g.31394153A>C | CA389386869 | HEATR5A | c.671T>G (p.Phe224Cys) c.*767T>G (n.*767T>G) | |
| 14 | g.31394153A>G | CA389386862 | HEATR5A | c.671T>C (p.Phe224Ser) c.*767T>C (n.*767T>C) | |
| 14 | g.31394153A>T | CA389386865 | HEATR5A | c.671T>A (p.Phe224Tyr) c.*767T>A (n.*767T>A) | |
| 14 | g.31394154A>C | CA389386883 | HEATR5A | c.670T>G (p.Phe224Val) c.*766T>G (n.*766T>G) | |
| 14 | g.31394154A>G | CA389386890 | HEATR5A | c.670T>C (p.Phe224Leu) c.*766T>C (n.*766T>C) | |
| 14 | g.31394154A>T | CA389386892 | HEATR5A | c.670T>A (p.Phe224Ile) c.*766T>A (n.*766T>A) | |
| 14 | g.31394155A>C | CA389386897 | HEATR5A | c.669T>G (p.Cys223Trp) c.*765T>G (n.*765T>G) | |
| 14 | g.31394155A>G | CA485849767 | HEATR5A | c.669T>C (p.Cys223=) c.*765T>C (n.*765T>C) | |
| 14 | g.31394155A>T | CA389386899 | HEATR5A | c.669T>A (p.Cys223Ter) c.*765T>A (n.*765T>A) | |
| 14 | g.31394156C>A | CA389386900 | HEATR5A | c.668G>T (p.Cys223Phe) c.*764G>T (n.*764G>T) | dbSNP |
| 14 | g.31394156C= | CA2127219282 | HEATR5A | c.668G= (p.Cys223=) c.*764G= (n.*764G=) | |
| 14 | g.31394156C>G | CA389386907 | HEATR5A | c.668G>C (p.Cys223Ser) c.*764G>C (n.*764G>C) | |
| 14 | g.31394156C>T | CA258630457 | HEATR5A | c.668G>A (p.Cys223Tyr) c.*764G>A (n.*764G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.31394157A>C | CA389386918 | HEATR5A | c.667T>G (p.Cys223Gly) c.*763T>G (n.*763T>G) | |
| 14 | g.31394157A>G | CA389386924 | HEATR5A | c.667T>C (p.Cys223Arg) c.*763T>C (n.*763T>C) | |
| 14 | g.31394157A>T | CA389386928 | HEATR5A | c.667T>A (p.Cys223Ser) c.*763T>A (n.*763T>A) | |
| 14 | g.31394158C>A | CA485849768 | HEATR5A | c.666G>T (p.Leu222=) c.*762G>T (n.*762G>T) | |
| 14 | g.31394158C>G | CA485849769 | HEATR5A | c.666G>C (p.Leu222=) c.*762G>C (n.*762G>C) | |
| 14 | g.31394158C>T | CA485849770 | HEATR5A | c.666G>A (p.Leu222=) c.*762G>A (n.*762G>A) |