Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.31394007delCA2624480732HEATR5Ac.772+48del (n.772+48del)
c.*868+48del (n.*868+48del)
 gnomAD v4
14g.31394006G>ACA2624480734HEATR5Ac.772+46C>T (n.772+46C>T)
c.*868+46C>T (n.*868+46C>T)
 gnomAD v4
14g.31394006G>TCA2624480735HEATR5Ac.772+46C>A (n.772+46C>A)
c.*868+46C>A (n.*868+46C>A)
 gnomAD v4
14g.31394007G>ACA2624480736HEATR5Ac.772+45C>T (n.772+45C>T)
c.*868+45C>T (n.*868+45C>T)
 gnomAD v4
14g.31394007G=CA2127219226HEATR5Ac.772+45C= (n.772+45C=)
c.*868+45C= (n.*868+45C=)
14g.31394007G>TCA2624480737HEATR5Ac.772+45C>A (n.772+45C>A)
c.*868+45C>A (n.*868+45C>A)
 gnomAD v4
14g.31394008A>GCA2624480739HEATR5Ac.772+44T>C (n.772+44T>C)
c.*868+44T>C (n.*868+44T>C)
 gnomAD v4
14g.31394008_31394013delCA2801067552HEATR5Ac.772+39_772+44del (n.772+39_772+44del)
c.*868+39_*868+44del (n.*868+39_*868+44del)
14g.31394013dupCA613324066HEATR5Ac.772+44dup (n.772+44dup)
c.*868+44dup (n.*868+44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394013delCA2624480738HEATR5Ac.772+44del (n.772+44del)
c.*868+44del (n.*868+44del)
 gnomAD v4
14g.31394009A>GCA2624480740HEATR5Ac.772+43T>C (n.772+43T>C)
c.*868+43T>C (n.*868+43T>C)
 gnomAD v4
14g.31394010A=CA2127219227HEATR5Ac.772+42T= (n.772+42T=)
c.*868+42T= (n.*868+42T=)
14g.31394010A>GCA704960116HEATR5Ac.772+42T>C (n.772+42T>C)
c.*868+42T>C (n.*868+42T>C)
 dbSNP gnomAD v4
14g.31394010A>TCA7147407HEATR5Ac.772+42T>A (n.772+42T>A)
c.*868+42T>A (n.*868+42T>A)
 dbSNP ExAC gnomAD v4
14g.31394011A>CCA2624480741HEATR5Ac.772+41T>G (n.772+41T>G)
c.*868+41T>G (n.*868+41T>G)
 gnomAD v4
14g.31394012A=CA2127219228HEATR5Ac.772+40T= (n.772+40T=)
c.*868+40T= (n.*868+40T=)
14g.31394012A>CCA2127219229HEATR5Ac.772+40T>G (n.772+40T>G)
c.*868+40T>G (n.*868+40T>G)
 dbSNP
14g.31394013A>TCA2624480742HEATR5Ac.772+39T>A (n.772+39T>A)
c.*868+39T>A (n.*868+39T>A)
 gnomAD v4
14g.31394014T>GCA2624480743HEATR5Ac.772+38A>C (n.772+38A>C)
c.*868+38A>C (n.*868+38A>C)
 gnomAD v4
14g.31394015T>ACA2624480744HEATR5Ac.772+37A>T (n.772+37A>T)
c.*868+37A>T (n.*868+37A>T)
 gnomAD v4
14g.31394015T>CCA2624480745HEATR5Ac.772+37A>G (n.772+37A>G)
c.*868+37A>G (n.*868+37A>G)
 gnomAD v4
14g.31394016A>TCA2624480746HEATR5Ac.772+36T>A (n.772+36T>A)
c.*868+36T>A (n.*868+36T>A)
 gnomAD v4
14g.31394017C>ACA613324067HEATR5Ac.772+35G>T (n.772+35G>T)
c.*868+35G>T (n.*868+35G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.31394017C=CA2127219230HEATR5Ac.772+35G= (n.772+35G=)
c.*868+35G= (n.*868+35G=)
14g.31394018A>CCA2624480747HEATR5Ac.772+34T>G (n.772+34T>G)
c.*868+34T>G (n.*868+34T>G)
 gnomAD v4
14g.31394018A>GCA2624480748HEATR5Ac.772+34T>C (n.772+34T>C)
c.*868+34T>C (n.*868+34T>C)
 gnomAD v4
14g.31394018A>TCA2624480749HEATR5Ac.772+34T>A (n.772+34T>A)
c.*868+34T>A (n.*868+34T>A)
 gnomAD v4
14g.31394019G>ACA2624480750HEATR5Ac.772+33C>T (n.772+33C>T)
c.*868+33C>T (n.*868+33C>T)
 gnomAD v4
14g.31394019G>CCA7147408HEATR5Ac.772+33C>G (n.772+33C>G)
c.*868+33C>G (n.*868+33C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31394019G=CA2127219231HEATR5Ac.772+33C= (n.772+33C=)
c.*868+33C= (n.*868+33C=)
14g.31394019G>TCA2624480751HEATR5Ac.772+33C>A (n.772+33C>A)
c.*868+33C>A (n.*868+33C>A)
 gnomAD v4
14g.31394020_31394026delCA2801067553HEATR5Ac.772+26_772+32del (n.772+26_772+32del)
c.*868+26_*868+32del (n.*868+26_*868+32del)
14g.31394021A=CA2127219232HEATR5Ac.772+31T= (n.772+31T=)
c.*868+31T= (n.*868+31T=)
14g.31394021A>CCA2624480752HEATR5Ac.772+31T>G (n.772+31T>G)
c.*868+31T>G (n.*868+31T>G)
 gnomAD v4
14g.31394021A>TCA2127219233HEATR5Ac.772+31T>A (n.772+31T>A)
c.*868+31T>A (n.*868+31T>A)
 dbSNP
14g.31394022G>TCA2624480753HEATR5Ac.772+30C>A (n.772+30C>A)
c.*868+30C>A (n.*868+30C>A)
 gnomAD v4
14g.31394023A=CA2127219234HEATR5Ac.772+29T= (n.772+29T=)
c.*868+29T= (n.*868+29T=)
14g.31394023A>CCA258630401HEATR5Ac.772+29T>G (n.772+29T>G)
c.*868+29T>G (n.*868+29T>G)
 dbSNP gnomAD v4
14g.31394024G>ACA613324069HEATR5Ac.772+28C>T (n.772+28C>T)
c.*868+28C>T (n.*868+28C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.31394024G>CCA2624480754HEATR5Ac.772+28C>G (n.772+28C>G)
c.*868+28C>G (n.*868+28C>G)
 gnomAD v4
14g.31394024G=CA2127219235HEATR5Ac.772+28C= (n.772+28C=)
c.*868+28C= (n.*868+28C=)
14g.31394024G>TCA613324070HEATR5Ac.772+28C>A (n.772+28C>A)
c.*868+28C>A (n.*868+28C>A)
 dbSNP gnomAD v2 gnomAD v4
14g.31394026C>ACA2624480755HEATR5Ac.772+26G>T (n.772+26G>T)
c.*868+26G>T (n.*868+26G>T)
 gnomAD v4
14g.31394026C>TCA2575502494HEATR5Ac.772+26G>A (n.772+26G>A)
c.*868+26G>A (n.*868+26G>A)
 gnomAD v4
14g.31394027T>CCA2624480756HEATR5Ac.772+25A>G (n.772+25A>G)
c.*868+25A>G (n.*868+25A>G)
 gnomAD v4
14g.31394028T>CCA2624480757HEATR5Ac.772+24A>G (n.772+24A>G)
c.*868+24A>G (n.*868+24A>G)
 gnomAD v4
14g.31394029T>GCA7147409HEATR5Ac.772+23A>C (n.772+23A>C)
c.*868+23A>C (n.*868+23A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31394029T=CA2127219236HEATR5Ac.772+23A= (n.772+23A=)
c.*868+23A= (n.*868+23A=)
14g.31394030G>TCA655924798HEATR5Ac.772+22C>A (n.772+22C>A)
c.*868+22C>A (n.*868+22C>A)
 gnomAD v4 COSMIC
14g.31394034delCA2624480758HEATR5Ac.772+21del (n.772+21del)
c.*868+21del (n.*868+21del)
 gnomAD v4
14g.31394032A>GCA2624480759HEATR5Ac.772+20T>C (n.772+20T>C)
c.*868+20T>C (n.*868+20T>C)
 gnomAD v4
14g.31394036A>CCA2624480760HEATR5Ac.772+16T>G (n.772+16T>G)
c.*868+16T>G (n.*868+16T>G)
 gnomAD v4
14g.31394037A>GCA2624480761HEATR5Ac.772+15T>C (n.772+15T>C)
c.*868+15T>C (n.*868+15T>C)
 gnomAD v4
14g.31394038T>CCA613324071HEATR5Ac.772+14A>G (n.772+14A>G)
c.*868+14A>G (n.*868+14A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394038T=CA2127219237HEATR5Ac.772+14A= (n.772+14A=)
c.*868+14A= (n.*868+14A=)
14g.31394039T>CCA2624480762HEATR5Ac.772+13A>G (n.772+13A>G)
c.*868+13A>G (n.*868+13A>G)
 gnomAD v4
14g.31394040delCA2624480763HEATR5Ac.772+12del (n.772+12del)
c.*868+12del (n.*868+12del)
 gnomAD v4
14g.31394041C>ACA2624480764HEATR5Ac.772+11G>T (n.772+11G>T)
c.*868+11G>T (n.*868+11G>T)
 gnomAD v4
14g.31394041C>TCA2624480765HEATR5Ac.772+11G>A (n.772+11G>A)
c.*868+11G>A (n.*868+11G>A)
 gnomAD v4
14g.31394042A=CA2127219238HEATR5Ac.772+10T= (n.772+10T=)
c.*868+10T= (n.*868+10T=)
14g.31394042A>GCA613324072HEATR5Ac.772+10T>C (n.772+10T>C)
c.*868+10T>C (n.*868+10T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.31394043T>ACA2127219240HEATR5Ac.772+9A>T (n.772+9A>T)
c.*868+9A>T (n.*868+9A>T)
 dbSNP
14g.31394043T>CCA258630410HEATR5Ac.772+9A>G (n.772+9A>G)
c.*868+9A>G (n.*868+9A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394043T=CA2127219239HEATR5Ac.772+9A= (n.772+9A=)
c.*868+9A= (n.*868+9A=)
14g.31394044G>ACA258630413HEATR5Ac.772+8C>T (n.772+8C>T)
c.*868+8C>T (n.*868+8C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394044G=CA2127219241HEATR5Ac.772+8C= (n.772+8C=)
c.*868+8C= (n.*868+8C=)
14g.31394044G>TCA2624480766HEATR5Ac.772+8C>A (n.772+8C>A)
c.*868+8C>A (n.*868+8C>A)
 gnomAD v4
14g.31394046A>CCA2624480767HEATR5Ac.772+6T>G (n.772+6T>G)
c.*868+6T>G (n.*868+6T>G)
 gnomAD v4
14g.31394046A>GCA2624480768HEATR5Ac.772+6T>C (n.772+6T>C)
c.*868+6T>C (n.*868+6T>C)
 gnomAD v4
14g.31394047T>CCA2624480770HEATR5Ac.772+5A>G (n.772+5A>G)
c.*868+5A>G (n.*868+5A>G)
 gnomAD v4
14g.31394049delCA2624480769HEATR5Ac.772+5del (n.772+5del)
c.*868+5del (n.*868+5del)
 gnomAD v4
14g.31394048T>CCA2624480771HEATR5Ac.772+4A>G (n.772+4A>G)
c.*868+4A>G (n.*868+4A>G)
 gnomAD v4
14g.31394049T>CCA2624480772HEATR5Ac.772+3A>G (n.772+3A>G)
c.*868+3A>G (n.*868+3A>G)
 gnomAD v4
14g.31394050A=CA2127219242HEATR5Ac.772+2T= (n.772+2T=)
c.*868+2T= (n.*868+2T=)
14g.31394050A>CCA389385847HEATR5Ac.772+2T>G (n.772+2T>G)
c.*868+2T>G (n.*868+2T>G)
14g.31394050A>GCA389385852HEATR5Ac.772+2T>C (n.772+2T>C)
c.*868+2T>C (n.*868+2T>C)
14g.31394050A>TCA258630423HEATR5Ac.772+2T>A (n.772+2T>A)
c.*868+2T>A (n.*868+2T>A)
 dbSNP gnomAD v4
14g.31394051C>ACA389385857HEATR5Ac.772+1G>T (n.772+1G>T)
c.*868+1G>T (n.*868+1G>T)
14g.31394051C>GCA389385861HEATR5Ac.772+1G>C (n.772+1G>C)
c.*868+1G>C (n.*868+1G>C)
 gnomAD v4
14g.31394051C>TCA389385864HEATR5Ac.772+1G>A (n.772+1G>A)
c.*868+1G>A (n.*868+1G>A)
 gnomAD v4
14g.31394052C>ACA389385869HEATR5Ac.772G>T (p.Ala258Ser)
c.*868G>T (n.*868G>T)
 gnomAD v4
14g.31394052C>GCA389385872HEATR5Ac.772G>C (p.Ala258Pro)
c.*868G>C (n.*868G>C)
14g.31394052C>TCA389385875HEATR5Ac.772G>A (p.Ala258Thr)
c.*868G>A (n.*868G>A)
14g.31394053T>ACA485849687HEATR5Ac.771A>T (p.Thr257=)
c.*867A>T (n.*867A>T)
14g.31394053T>CCA485849688HEATR5Ac.771A>G (p.Thr257=)
c.*867A>G (n.*867A>G)
14g.31394053T>GCA485849689HEATR5Ac.771A>C (p.Thr257=)
c.*867A>C (n.*867A>C)
14g.31394054G>ACA389385888HEATR5Ac.770C>T (p.Thr257Ile)
c.*866C>T (n.*866C>T)
 gnomAD v4
14g.31394054G>CCA389385883HEATR5Ac.770C>G (p.Thr257Arg)
c.*866C>G (n.*866C>G)
14g.31394054G>TCA389385880HEATR5Ac.770C>A (p.Thr257Lys)
c.*866C>A (n.*866C>A)
 gnomAD v4
14g.31394055T>ACA389385892HEATR5Ac.769A>T (p.Thr257Ser)
c.*865A>T (n.*865A>T)
14g.31394055T>CCA389385897HEATR5Ac.769A>G (p.Thr257Ala)
c.*865A>G (n.*865A>G)
 dbSNP
14g.31394055T>GCA389385901HEATR5Ac.769A>C (p.Thr257Pro)
c.*865A>C (n.*865A>C)
14g.31394055T=CA2127219243HEATR5Ac.769A= (p.Thr257=)
c.*865A= (n.*865A=)
14g.31394056T>ACA485849691HEATR5Ac.768A>T (p.Gly256=)
c.*864A>T (n.*864A>T)
14g.31394056T>CCA485849692HEATR5Ac.768A>G (p.Gly256=)
c.*864A>G (n.*864A>G)
 gnomAD v4
14g.31394056T>GCA485849693HEATR5Ac.768A>C (p.Gly256=)
c.*864A>C (n.*864A>C)
14g.31394057C>ACA389385906HEATR5Ac.767G>T (p.Gly256Val)
c.*863G>T (n.*863G>T)
14g.31394057C=CA2127219244HEATR5Ac.767G= (p.Gly256=)
c.*863G= (n.*863G=)
14g.31394057C>GCA389385909HEATR5Ac.767G>C (p.Gly256Ala)
c.*863G>C (n.*863G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394057C>TCA389385910HEATR5Ac.767G>A (p.Gly256Glu)
c.*863G>A (n.*863G>A)
 gnomAD v4
14g.31394058C>ACA389385912HEATR5Ac.766G>T (p.Gly256Ter)
c.*862G>T (n.*862G>T)
14g.31394058C>GCA389385913HEATR5Ac.766G>C (p.Gly256Arg)
c.*862G>C (n.*862G>C)
14g.31394058C>TCA389385916HEATR5Ac.766G>A (p.Gly256Arg)
c.*862G>A (n.*862G>A)
14g.31394059T>ACA485849696HEATR5Ac.765A>T (p.Pro255=)
c.*861A>T (n.*861A>T)
14g.31394059T>CCA485849697HEATR5Ac.765A>G (p.Pro255=)
c.*861A>G (n.*861A>G)
 gnomAD v4
14g.31394059T>GCA485849699HEATR5Ac.765A>C (p.Pro255=)
c.*861A>C (n.*861A>C)
14g.31394060G>ACA389385920HEATR5Ac.764C>T (p.Pro255Leu)
c.*860C>T (n.*860C>T)
14g.31394060G>CCA389385924HEATR5Ac.764C>G (p.Pro255Arg)
c.*860C>G (n.*860C>G)
14g.31394060G>TCA389385927HEATR5Ac.764C>A (p.Pro255Gln)
c.*860C>A (n.*860C>A)
 gnomAD v4
14g.31394061G>ACA389385936HEATR5Ac.763C>T (p.Pro255Ser)
c.*859C>T (n.*859C>T)
14g.31394061G>CCA389385938HEATR5Ac.763C>G (p.Pro255Ala)
c.*859C>G (n.*859C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.31394061G=CA2127219245HEATR5Ac.763C= (p.Pro255=)
c.*859C= (n.*859C=)
14g.31394061G>TCA389385932HEATR5Ac.763C>A (p.Pro255Thr)
c.*859C>A (n.*859C>A)
14g.31394062A>CCA389385943HEATR5Ac.762T>G (p.His254Gln)
c.*858T>G (n.*858T>G)
14g.31394062A>GCA485849700HEATR5Ac.762T>C (p.His254=)
c.*858T>C (n.*858T>C)
14g.31394062A>TCA389385945HEATR5Ac.762T>A (p.His254Gln)
c.*858T>A (n.*858T>A)
 gnomAD v4
14g.31394062_31394063delCA2624480773HEATR5Ac.761_762del (p.His254ProfsTer?)
c.*857_*858del (n.*857_*858del)
 gnomAD v4
14g.31394063T>ACA389385949HEATR5Ac.761A>T (p.His254Leu)
c.*857A>T (n.*857A>T)
14g.31394063T>CCA389385952HEATR5Ac.761A>G (p.His254Arg)
c.*857A>G (n.*857A>G)
14g.31394063T>GCA389385954HEATR5Ac.761A>C (p.His254Pro)
c.*857A>C (n.*857A>C)
14g.31394064G>ACA389385968HEATR5Ac.760C>T (p.His254Tyr)
c.*856C>T (n.*856C>T)
14g.31394064G>CCA389385971HEATR5Ac.760C>G (p.His254Asp)
c.*856C>G (n.*856C>G)
14g.31394064G>TCA389385975HEATR5Ac.760C>A (p.His254Asn)
c.*856C>A (n.*856C>A)
14g.31394065T>ACA389385978HEATR5Ac.759A>T (p.Lys253Asn)
c.*855A>T (n.*855A>T)
14g.31394065T>CCA485849701HEATR5Ac.759A>G (p.Lys253=)
c.*855A>G (n.*855A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394065T>GCA389385981HEATR5Ac.759A>C (p.Lys253Asn)
c.*855A>C (n.*855A>C)
14g.31394065T=CA2127219246HEATR5Ac.759A= (p.Lys253=)
c.*855A= (n.*855A=)
14g.31394066T>ACA389385985HEATR5Ac.758A>T (p.Lys253Ile)
c.*854A>T (n.*854A>T)
14g.31394066T>CCA389385992HEATR5Ac.758A>G (p.Lys253Arg)
c.*854A>G (n.*854A>G)
14g.31394066T>GCA389385994HEATR5Ac.758A>C (p.Lys253Thr)
c.*854A>C (n.*854A>C)
14g.31394067T>ACA389386003HEATR5Ac.757A>T (p.Lys253Ter)
c.*853A>T (n.*853A>T)
14g.31394067T>CCA389385999HEATR5Ac.757A>G (p.Lys253Glu)
c.*853A>G (n.*853A>G)
14g.31394067T>GCA389385998HEATR5Ac.757A>C (p.Lys253Gln)
c.*853A>C (n.*853A>C)
14g.31394068A>CCA485849705HEATR5Ac.756T>G (p.Ser252=)
c.*852T>G (n.*852T>G)
14g.31394068A>GCA485849704HEATR5Ac.756T>C (p.Ser252=)
c.*852T>C (n.*852T>C)
 gnomAD v4
14g.31394068A>TCA485849703HEATR5Ac.756T>A (p.Ser252=)
c.*852T>A (n.*852T>A)
14g.31394069G>ACA389386008HEATR5Ac.755C>T (p.Ser252Phe)
c.*851C>T (n.*851C>T)
14g.31394069G>CCA7147410HEATR5Ac.755C>G (p.Ser252Cys)
c.*851C>G (n.*851C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31394069G=CA2127219247HEATR5Ac.755C= (p.Ser252=)
c.*851C= (n.*851C=)
14g.31394069G>TCA389386014HEATR5Ac.755C>A (p.Ser252Tyr)
c.*851C>A (n.*851C>A)
14g.31394070A>CCA389386023HEATR5Ac.754T>G (p.Ser252Ala)
c.*850T>G (n.*850T>G)
14g.31394070A>GCA389386026HEATR5Ac.754T>C (p.Ser252Pro)
c.*850T>C (n.*850T>C)
14g.31394070A>TCA389386028HEATR5Ac.754T>A (p.Ser252Thr)
c.*850T>A (n.*850T>A)
14g.31394072delCA2624480774HEATR5Ac.754del (p.Ser252LeufsTer25)
c.*850del (n.*850del)
 gnomAD v4
14g.31394071A>CCA389386032HEATR5Ac.753T>G (p.Ile251Met)
c.*849T>G (n.*849T>G)
14g.31394071A>GCA485849707HEATR5Ac.753T>C (p.Ile251=)
c.*849T>C (n.*849T>C)
 gnomAD v4
14g.31394071A>TCA485849706HEATR5Ac.753T>A (p.Ile251=)
c.*849T>A (n.*849T>A)
14g.31394072A=CA2127219248HEATR5Ac.752T= (p.Ile251=)
c.*848T= (n.*848T=)
14g.31394072A>CCA389386033HEATR5Ac.752T>G (p.Ile251Ser)
c.*848T>G (n.*848T>G)
14g.31394072A>GCA7147411HEATR5Ac.752T>C (p.Ile251Thr)
c.*848T>C (n.*848T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.31394072A>TCA389386034HEATR5Ac.752T>A (p.Ile251Asn)
c.*848T>A (n.*848T>A)
14g.31394073T>ACA389386038HEATR5Ac.751A>T (p.Ile251Phe)
c.*847A>T (n.*847A>T)
14g.31394073T>CCA389386039HEATR5Ac.751A>G (p.Ile251Val)
c.*847A>G (n.*847A>G)
 gnomAD v4
14g.31394073T>GCA389386042HEATR5Ac.751A>C (p.Ile251Leu)
c.*847A>C (n.*847A>C)
14g.31394074T>ACA485849708HEATR5Ac.750A>T (p.Val250=)
c.*846A>T (n.*846A>T)
14g.31394074T>CCA485849709HEATR5Ac.750A>G (p.Val250=)
c.*846A>G (n.*846A>G)
 gnomAD v4
14g.31394074T>GCA485849710HEATR5Ac.750A>C (p.Val250=)
c.*846A>C (n.*846A>C)
14g.31394075A>CCA389386046HEATR5Ac.749T>G (p.Val250Gly)
c.*845T>G (n.*845T>G)
14g.31394075A>GCA389386054HEATR5Ac.749T>C (p.Val250Ala)
c.*845T>C (n.*845T>C)
14g.31394075A>TCA389386044HEATR5Ac.749T>A (p.Val250Glu)
c.*845T>A (n.*845T>A)
14g.31394076C>ACA389386056HEATR5Ac.748G>T (p.Val250Leu)
c.*844G>T (n.*844G>T)
14g.31394076C=CA2127219249HEATR5Ac.748G= (p.Val250=)
c.*844G= (n.*844G=)
14g.31394076C>GCA389386055HEATR5Ac.748G>C (p.Val250Leu)
c.*844G>C (n.*844G>C)
14g.31394076C>TCA389386063HEATR5Ac.748G>A (p.Val250Ile)
c.*844G>A (n.*844G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394077A=CA2127219250HEATR5Ac.747T= (p.Ala249=)
c.*843T= (n.*843T=)
14g.31394077A>CCA485849711HEATR5Ac.747T>G (p.Ala249=)
c.*843T>G (n.*843T>G)
14g.31394077A>GCA485849712HEATR5Ac.747T>C (p.Ala249=)
c.*843T>C (n.*843T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.31394077A>TCA485849713HEATR5Ac.747T>A (p.Ala249=)
c.*843T>A (n.*843T>A)
 gnomAD v4
14g.31394078G>ACA389386068HEATR5Ac.746C>T (p.Ala249Val)
c.*842C>T (n.*842C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.31394078G>CCA389386071HEATR5Ac.746C>G (p.Ala249Gly)
c.*842C>G (n.*842C>G)
14g.31394078G=CA2127219251HEATR5Ac.746C= (p.Ala249=)
c.*842C= (n.*842C=)
14g.31394078G>TCA389386074HEATR5Ac.746C>A (p.Ala249Asp)
c.*842C>A (n.*842C>A)
14g.31394079C>ACA389386100HEATR5Ac.745G>T (p.Ala249Ser)
c.*841G>T (n.*841G>T)
14g.31394079C=CA2127219252HEATR5Ac.745G= (p.Ala249=)
c.*841G= (n.*841G=)
14g.31394079C>GCA389386106HEATR5Ac.745G>C (p.Ala249Pro)
c.*841G>C (n.*841G>C)
 dbSNP gnomAD v4
14g.31394079C>TCA389386109HEATR5Ac.745G>A (p.Ala249Thr)
c.*841G>A (n.*841G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.31394080T>ACA389386113HEATR5Ac.744A>T (p.Lys248Asn)
c.*840A>T (n.*840A>T)
14g.31394080T>CCA485849714HEATR5Ac.744A>G (p.Lys248=)
c.*840A>G (n.*840A>G)
14g.31394080T>GCA389386115HEATR5Ac.744A>C (p.Lys248Asn)
c.*840A>C (n.*840A>C)
14g.31394081T>ACA389386116HEATR5Ac.743A>T (p.Lys248Ile)
c.*839A>T (n.*839A>T)
14g.31394081T>CCA389386119HEATR5Ac.743A>G (p.Lys248Arg)
c.*839A>G (n.*839A>G)
14g.31394081T>GCA389386121HEATR5Ac.743A>C (p.Lys248Thr)
c.*839A>C (n.*839A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394081T=CA2127219253HEATR5Ac.743A= (p.Lys248=)
c.*839A= (n.*839A=)
14g.31394082T>ACA389386126HEATR5Ac.742A>T (p.Lys248Ter)
c.*838A>T (n.*838A>T)
14g.31394082T>CCA389386128HEATR5Ac.742A>G (p.Lys248Glu)
c.*838A>G (n.*838A>G)
14g.31394082T>GCA389386132HEATR5Ac.742A>C (p.Lys248Gln)
c.*838A>C (n.*838A>C)
14g.31394083A>CCA485849715HEATR5Ac.741T>G (p.Ala247=)
c.*837T>G (n.*837T>G)
14g.31394083A>GCA485849716HEATR5Ac.741T>C (p.Ala247=)
c.*837T>C (n.*837T>C)
14g.31394083A>TCA485849717HEATR5Ac.741T>A (p.Ala247=)
c.*837T>A (n.*837T>A)
14g.31394084G>ACA389386141HEATR5Ac.740C>T (p.Ala247Val)
c.*836C>T (n.*836C>T)
14g.31394084G>CCA389386138HEATR5Ac.740C>G (p.Ala247Gly)
c.*836C>G (n.*836C>G)
14g.31394084G>TCA389386135HEATR5Ac.740C>A (p.Ala247Asp)
c.*836C>A (n.*836C>A)
14g.31394085C>ACA389386146HEATR5Ac.739G>T (p.Ala247Ser)
c.*835G>T (n.*835G>T)
14g.31394085C>GCA389386149HEATR5Ac.739G>C (p.Ala247Pro)
c.*835G>C (n.*835G>C)
14g.31394085C>TCA389386152HEATR5Ac.739G>A (p.Ala247Thr)
c.*835G>A (n.*835G>A)
14g.31394086T>ACA389386156HEATR5Ac.738A>T (p.Leu246Phe)
c.*834A>T (n.*834A>T)
14g.31394086T>CCA485849718HEATR5Ac.738A>G (p.Leu246=)
c.*834A>G (n.*834A>G)
 dbSNP
14g.31394086T>GCA389386159HEATR5Ac.738A>C (p.Leu246Phe)
c.*834A>C (n.*834A>C)
 gnomAD v4
14g.31394086T=CA2127219254HEATR5Ac.738A= (p.Leu246=)
c.*834A= (n.*834A=)
14g.31394087A>CCA389386164HEATR5Ac.737T>G (p.Leu246Ter)
c.*833T>G (n.*833T>G)
14g.31394087A>GCA389386167HEATR5Ac.737T>C (p.Leu246Ser)
c.*833T>C (n.*833T>C)
14g.31394087A>TCA389386171HEATR5Ac.737T>A (p.Leu246Ter)
c.*833T>A (n.*833T>A)
14g.31394088A>CCA389386179HEATR5Ac.736T>G (p.Leu246Val)
c.*832T>G (n.*832T>G)
 gnomAD v4
14g.31394088A>GCA485849719HEATR5Ac.736T>C (p.Leu246=)
c.*832T>C (n.*832T>C)
 gnomAD v4
14g.31394088A>TCA389386181HEATR5Ac.736T>A (p.Leu246Ile)
c.*832T>A (n.*832T>A)
14g.31394089T>ACA485849720HEATR5Ac.735A>T (p.Ile245=)
c.*831A>T (n.*831A>T)
14g.31394089T>CCA389386187HEATR5Ac.735A>G (p.Ile245Met)
c.*831A>G (n.*831A>G)
 gnomAD v4
14g.31394089T>GCA485849721HEATR5Ac.735A>C (p.Ile245=)
c.*831A>C (n.*831A>C)
14g.31394092_31394094delCA2624480775HEATR5Ac.733_735del (p.Ile245del)
c.*829_*831del (n.*829_*831del)
 gnomAD v4
14g.31394090A>CCA389386191HEATR5Ac.734T>G (p.Ile245Arg)
c.*830T>G (n.*830T>G)
 gnomAD v4
14g.31394090A>GCA389386193HEATR5Ac.734T>C (p.Ile245Thr)
c.*830T>C (n.*830T>C)
14g.31394090A>TCA389386198HEATR5Ac.734T>A (p.Ile245Lys)
c.*830T>A (n.*830T>A)
14g.31394091T>ACA389386209HEATR5Ac.733A>T (p.Ile245Leu)
c.*829A>T (n.*829A>T)
14g.31394091T>CCA389386215HEATR5Ac.733A>G (p.Ile245Val)
c.*829A>G (n.*829A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.31394091T>GCA389386207HEATR5Ac.733A>C (p.Ile245Leu)
c.*829A>C (n.*829A>C)
14g.31394091T=CA2127219255HEATR5Ac.733A= (p.Ile245=)
c.*829A= (n.*829A=)
14g.31394092T>ACA485849723HEATR5Ac.732A>T (p.Ile244=)
c.*828A>T (n.*828A>T)
14g.31394092T>CCA389386216HEATR5Ac.732A>G (p.Ile244Met)
c.*828A>G (n.*828A>G)
 gnomAD v4
14g.31394092T>GCA485849722HEATR5Ac.732A>C (p.Ile244=)
c.*828A>C (n.*828A>C)
 gnomAD v4
14g.31394093A>CCA389386218HEATR5Ac.731T>G (p.Ile244Arg)
c.*827T>G (n.*827T>G)
14g.31394093A>GCA389386220HEATR5Ac.731T>C (p.Ile244Thr)
c.*827T>C (n.*827T>C)
14g.31394093A>TCA389386226HEATR5Ac.731T>A (p.Ile244Lys)
c.*827T>A (n.*827T>A)
14g.31394094T>ACA389386228HEATR5Ac.730A>T (p.Ile244Leu)
c.*826A>T (n.*826A>T)
14g.31394094T>CCA389386229HEATR5Ac.730A>G (p.Ile244Val)
c.*826A>G (n.*826A>G)
 dbSNP gnomAD v4
14g.31394094T>GCA389386230HEATR5Ac.730A>C (p.Ile244Leu)
c.*826A>C (n.*826A>C)
14g.31394094T=CA2127219256HEATR5Ac.730A= (p.Ile244=)
c.*826A= (n.*826A=)
14g.31394095G>ACA485849724HEATR5Ac.729C>T (p.Gly243=)
c.*825C>T (n.*825C>T)
14g.31394095G>CCA485849725HEATR5Ac.729C>G (p.Gly243=)
c.*825C>G (n.*825C>G)
14g.31394095G>TCA485849726HEATR5Ac.729C>A (p.Gly243=)
c.*825C>A (n.*825C>A)
 gnomAD v4
14g.31394096C>ACA389386234HEATR5Ac.728G>T (p.Gly243Val)
c.*824G>T (n.*824G>T)
 dbSNP
14g.31394096C=CA2127219257HEATR5Ac.728G= (p.Gly243=)
c.*824G= (n.*824G=)
14g.31394096C>GCA389386235HEATR5Ac.728G>C (p.Gly243Ala)
c.*824G>C (n.*824G>C)
14g.31394096C>TCA389386236HEATR5Ac.728G>A (p.Gly243Asp)
c.*824G>A (n.*824G>A)
14g.31394097C>ACA389386237HEATR5Ac.727G>T (p.Gly243Cys)
c.*823G>T (n.*823G>T)
14g.31394097C=CA2127219258HEATR5Ac.727G= (p.Gly243=)
c.*823G= (n.*823G=)
14g.31394097C>GCA389386240HEATR5Ac.727G>C (p.Gly243Arg)
c.*823G>C (n.*823G>C)
 gnomAD v4
14g.31394097C>TCA389386243HEATR5Ac.727G>A (p.Gly243Ser)
c.*823G>A (n.*823G>A)
 dbSNP
14g.31394098T>ACA485849729HEATR5Ac.726A>T (p.Leu242=)
c.*822A>T (n.*822A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394098T>CCA485849727HEATR5Ac.726A>G (p.Leu242=)
c.*822A>G (n.*822A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.31394098T>GCA485849728HEATR5Ac.726A>C (p.Leu242=)
c.*822A>C (n.*822A>C)
14g.31394098T=CA2127219259HEATR5Ac.726A= (p.Leu242=)
c.*822A= (n.*822A=)
14g.31394099A>CCA389386252HEATR5Ac.725T>G (p.Leu242Arg)
c.*821T>G (n.*821T>G)
14g.31394099A>GCA389386247HEATR5Ac.725T>C (p.Leu242Pro)
c.*821T>C (n.*821T>C)
 gnomAD v4
14g.31394099A>TCA389386248HEATR5Ac.725T>A (p.Leu242Gln)
c.*821T>A (n.*821T>A)
14g.31394100G>ACA485849730HEATR5Ac.724C>T (p.Leu242=)
c.*820C>T (n.*820C>T)
14g.31394100G>CCA389386254HEATR5Ac.724C>G (p.Leu242Val)
c.*820C>G (n.*820C>G)
14g.31394100G>TCA389386255HEATR5Ac.724C>A (p.Leu242Ile)
c.*820C>A (n.*820C>A)
14g.31394101T>ACA389386259HEATR5Ac.723A>T (p.Leu241Phe)
c.*819A>T (n.*819A>T)
14g.31394101T>CCA485849731HEATR5Ac.723A>G (p.Leu241=)
c.*819A>G (n.*819A>G)
14g.31394101T>GCA389386262HEATR5Ac.723A>C (p.Leu241Phe)
c.*819A>C (n.*819A>C)
14g.31394102A>CCA389386269HEATR5Ac.722T>G (p.Leu241Ter)
c.*818T>G (n.*818T>G)
14g.31394102A>GCA389386270HEATR5Ac.722T>C (p.Leu241Ser)
c.*818T>C (n.*818T>C)
14g.31394102A>TCA389386271HEATR5Ac.722T>A (p.Leu241Ter)
c.*818T>A (n.*818T>A)
 gnomAD v4
14g.31394103A>CCA389386272HEATR5Ac.721T>G (p.Leu241Val)
c.*817T>G (n.*817T>G)
14g.31394103A>GCA485849732HEATR5Ac.721T>C (p.Leu241=)
c.*817T>C (n.*817T>C)
14g.31394103A>TCA389386278HEATR5Ac.721T>A (p.Leu241Ile)
c.*817T>A (n.*817T>A)
14g.31394104C>ACA389386279HEATR5Ac.720G>T (p.Lys240Asn)
c.*816G>T (n.*816G>T)
14g.31394104C=CA2127219260HEATR5Ac.720G= (p.Lys240=)
c.*816G= (n.*816G=)
14g.31394104C>GCA389386280HEATR5Ac.720G>C (p.Lys240Asn)
c.*816G>C (n.*816G>C)
14g.31394104C>TCA485849733HEATR5Ac.720G>A (p.Lys240=)
c.*816G>A (n.*816G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.31394105T>ACA389386284HEATR5Ac.719A>T (p.Lys240Met)
c.*815A>T (n.*815A>T)
14g.31394105T>CCA389386303HEATR5Ac.719A>G (p.Lys240Arg)
c.*815A>G (n.*815A>G)
14g.31394105T>GCA389386300HEATR5Ac.719A>C (p.Lys240Thr)
c.*815A>C (n.*815A>C)
14g.31394106T>ACA389386309HEATR5Ac.718A>T (p.Lys240Ter)
c.*814A>T (n.*814A>T)
14g.31394106T>CCA389386321HEATR5Ac.718A>G (p.Lys240Glu)
c.*814A>G (n.*814A>G)
14g.31394106T>GCA389386313HEATR5Ac.718A>C (p.Lys240Gln)
c.*814A>C (n.*814A>C)

Number of alleles fetched