Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.31394007del | CA2624480732 | HEATR5A | c.772+48del (n.772+48del) c.*868+48del (n.*868+48del) | gnomAD v4 |
14 | g.31394007G>A | CA2624480736 | HEATR5A | c.772+45C>T (n.772+45C>T) c.*868+45C>T (n.*868+45C>T) | gnomAD v4 |
14 | g.31394007G= | CA2127219226 | HEATR5A | c.772+45C= (n.772+45C=) c.*868+45C= (n.*868+45C=) | |
14 | g.31394007G>T | CA2624480737 | HEATR5A | c.772+45C>A (n.772+45C>A) c.*868+45C>A (n.*868+45C>A) | gnomAD v4 |
14 | g.31394008A>G | CA2624480739 | HEATR5A | c.772+44T>C (n.772+44T>C) c.*868+44T>C (n.*868+44T>C) | gnomAD v4 |
14 | g.31394008_31394013del | CA2801067552 | HEATR5A | c.772+39_772+44del (n.772+39_772+44del) c.*868+39_*868+44del (n.*868+39_*868+44del) | |
14 | g.31394013dup | CA613324066 | HEATR5A | c.772+44dup (n.772+44dup) c.*868+44dup (n.*868+44dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394013del | CA2624480738 | HEATR5A | c.772+44del (n.772+44del) c.*868+44del (n.*868+44del) | gnomAD v4 |
14 | g.31394009A>G | CA2624480740 | HEATR5A | c.772+43T>C (n.772+43T>C) c.*868+43T>C (n.*868+43T>C) | gnomAD v4 |
14 | g.31394010A= | CA2127219227 | HEATR5A | c.772+42T= (n.772+42T=) c.*868+42T= (n.*868+42T=) | |
14 | g.31394010A>G | CA704960116 | HEATR5A | c.772+42T>C (n.772+42T>C) c.*868+42T>C (n.*868+42T>C) | dbSNP gnomAD v4 |
14 | g.31394010A>T | CA7147407 | HEATR5A | c.772+42T>A (n.772+42T>A) c.*868+42T>A (n.*868+42T>A) | dbSNP ExAC gnomAD v4 |
14 | g.31394011A>C | CA2624480741 | HEATR5A | c.772+41T>G (n.772+41T>G) c.*868+41T>G (n.*868+41T>G) | gnomAD v4 |
14 | g.31394012A= | CA2127219228 | HEATR5A | c.772+40T= (n.772+40T=) c.*868+40T= (n.*868+40T=) | |
14 | g.31394012A>C | CA2127219229 | HEATR5A | c.772+40T>G (n.772+40T>G) c.*868+40T>G (n.*868+40T>G) | dbSNP |
14 | g.31394013A>T | CA2624480742 | HEATR5A | c.772+39T>A (n.772+39T>A) c.*868+39T>A (n.*868+39T>A) | gnomAD v4 |
14 | g.31394014T>G | CA2624480743 | HEATR5A | c.772+38A>C (n.772+38A>C) c.*868+38A>C (n.*868+38A>C) | gnomAD v4 |
14 | g.31394015T>A | CA2624480744 | HEATR5A | c.772+37A>T (n.772+37A>T) c.*868+37A>T (n.*868+37A>T) | gnomAD v4 |
14 | g.31394015T>C | CA2624480745 | HEATR5A | c.772+37A>G (n.772+37A>G) c.*868+37A>G (n.*868+37A>G) | gnomAD v4 |
14 | g.31394016A>T | CA2624480746 | HEATR5A | c.772+36T>A (n.772+36T>A) c.*868+36T>A (n.*868+36T>A) | gnomAD v4 |
14 | g.31394017C>A | CA613324067 | HEATR5A | c.772+35G>T (n.772+35G>T) c.*868+35G>T (n.*868+35G>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.31394017C= | CA2127219230 | HEATR5A | c.772+35G= (n.772+35G=) c.*868+35G= (n.*868+35G=) | |
14 | g.31394018A>C | CA2624480747 | HEATR5A | c.772+34T>G (n.772+34T>G) c.*868+34T>G (n.*868+34T>G) | gnomAD v4 |
14 | g.31394018A>G | CA2624480748 | HEATR5A | c.772+34T>C (n.772+34T>C) c.*868+34T>C (n.*868+34T>C) | gnomAD v4 |
14 | g.31394018A>T | CA2624480749 | HEATR5A | c.772+34T>A (n.772+34T>A) c.*868+34T>A (n.*868+34T>A) | gnomAD v4 |
14 | g.31394019G>A | CA2624480750 | HEATR5A | c.772+33C>T (n.772+33C>T) c.*868+33C>T (n.*868+33C>T) | gnomAD v4 |
14 | g.31394019G>C | CA7147408 | HEATR5A | c.772+33C>G (n.772+33C>G) c.*868+33C>G (n.*868+33C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394019G= | CA2127219231 | HEATR5A | c.772+33C= (n.772+33C=) c.*868+33C= (n.*868+33C=) | |
14 | g.31394019G>T | CA2624480751 | HEATR5A | c.772+33C>A (n.772+33C>A) c.*868+33C>A (n.*868+33C>A) | gnomAD v4 |
14 | g.31394020_31394026del | CA2801067553 | HEATR5A | c.772+26_772+32del (n.772+26_772+32del) c.*868+26_*868+32del (n.*868+26_*868+32del) | |
14 | g.31394021A= | CA2127219232 | HEATR5A | c.772+31T= (n.772+31T=) c.*868+31T= (n.*868+31T=) | |
14 | g.31394021A>C | CA2624480752 | HEATR5A | c.772+31T>G (n.772+31T>G) c.*868+31T>G (n.*868+31T>G) | gnomAD v4 |
14 | g.31394021A>T | CA2127219233 | HEATR5A | c.772+31T>A (n.772+31T>A) c.*868+31T>A (n.*868+31T>A) | dbSNP |
14 | g.31394022G>T | CA2624480753 | HEATR5A | c.772+30C>A (n.772+30C>A) c.*868+30C>A (n.*868+30C>A) | gnomAD v4 |
14 | g.31394023A= | CA2127219234 | HEATR5A | c.772+29T= (n.772+29T=) c.*868+29T= (n.*868+29T=) | |
14 | g.31394023A>C | CA258630401 | HEATR5A | c.772+29T>G (n.772+29T>G) c.*868+29T>G (n.*868+29T>G) | dbSNP gnomAD v4 |
14 | g.31394024G>A | CA613324069 | HEATR5A | c.772+28C>T (n.772+28C>T) c.*868+28C>T (n.*868+28C>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.31394024G>C | CA2624480754 | HEATR5A | c.772+28C>G (n.772+28C>G) c.*868+28C>G (n.*868+28C>G) | gnomAD v4 |
14 | g.31394024G= | CA2127219235 | HEATR5A | c.772+28C= (n.772+28C=) c.*868+28C= (n.*868+28C=) | |
14 | g.31394024G>T | CA613324070 | HEATR5A | c.772+28C>A (n.772+28C>A) c.*868+28C>A (n.*868+28C>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.31394026C>A | CA2624480755 | HEATR5A | c.772+26G>T (n.772+26G>T) c.*868+26G>T (n.*868+26G>T) | gnomAD v4 |
14 | g.31394026C>T | CA2575502494 | HEATR5A | c.772+26G>A (n.772+26G>A) c.*868+26G>A (n.*868+26G>A) | gnomAD v4 |
14 | g.31394027T>C | CA2624480756 | HEATR5A | c.772+25A>G (n.772+25A>G) c.*868+25A>G (n.*868+25A>G) | gnomAD v4 |
14 | g.31394028T>C | CA2624480757 | HEATR5A | c.772+24A>G (n.772+24A>G) c.*868+24A>G (n.*868+24A>G) | gnomAD v4 |
14 | g.31394029T>G | CA7147409 | HEATR5A | c.772+23A>C (n.772+23A>C) c.*868+23A>C (n.*868+23A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394029T= | CA2127219236 | HEATR5A | c.772+23A= (n.772+23A=) c.*868+23A= (n.*868+23A=) | |
14 | g.31394030G>T | CA655924798 | HEATR5A | c.772+22C>A (n.772+22C>A) c.*868+22C>A (n.*868+22C>A) | gnomAD v4 COSMIC |
14 | g.31394034del | CA2624480758 | HEATR5A | c.772+21del (n.772+21del) c.*868+21del (n.*868+21del) | gnomAD v4 |
14 | g.31394032A>G | CA2624480759 | HEATR5A | c.772+20T>C (n.772+20T>C) c.*868+20T>C (n.*868+20T>C) | gnomAD v4 |
14 | g.31394036A>C | CA2624480760 | HEATR5A | c.772+16T>G (n.772+16T>G) c.*868+16T>G (n.*868+16T>G) | gnomAD v4 |
14 | g.31394037A>G | CA2624480761 | HEATR5A | c.772+15T>C (n.772+15T>C) c.*868+15T>C (n.*868+15T>C) | gnomAD v4 |
14 | g.31394038T>C | CA613324071 | HEATR5A | c.772+14A>G (n.772+14A>G) c.*868+14A>G (n.*868+14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394038T= | CA2127219237 | HEATR5A | c.772+14A= (n.772+14A=) c.*868+14A= (n.*868+14A=) | |
14 | g.31394039T>C | CA2624480762 | HEATR5A | c.772+13A>G (n.772+13A>G) c.*868+13A>G (n.*868+13A>G) | gnomAD v4 |
14 | g.31394040del | CA2624480763 | HEATR5A | c.772+12del (n.772+12del) c.*868+12del (n.*868+12del) | gnomAD v4 |
14 | g.31394041C>A | CA2624480764 | HEATR5A | c.772+11G>T (n.772+11G>T) c.*868+11G>T (n.*868+11G>T) | gnomAD v4 |
14 | g.31394041C>T | CA2624480765 | HEATR5A | c.772+11G>A (n.772+11G>A) c.*868+11G>A (n.*868+11G>A) | gnomAD v4 |
14 | g.31394042A= | CA2127219238 | HEATR5A | c.772+10T= (n.772+10T=) c.*868+10T= (n.*868+10T=) | |
14 | g.31394042A>G | CA613324072 | HEATR5A | c.772+10T>C (n.772+10T>C) c.*868+10T>C (n.*868+10T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.31394043T>A | CA2127219240 | HEATR5A | c.772+9A>T (n.772+9A>T) c.*868+9A>T (n.*868+9A>T) | dbSNP |
14 | g.31394043T>C | CA258630410 | HEATR5A | c.772+9A>G (n.772+9A>G) c.*868+9A>G (n.*868+9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394043T= | CA2127219239 | HEATR5A | c.772+9A= (n.772+9A=) c.*868+9A= (n.*868+9A=) | |
14 | g.31394044G>A | CA258630413 | HEATR5A | c.772+8C>T (n.772+8C>T) c.*868+8C>T (n.*868+8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394044G= | CA2127219241 | HEATR5A | c.772+8C= (n.772+8C=) c.*868+8C= (n.*868+8C=) | |
14 | g.31394044G>T | CA2624480766 | HEATR5A | c.772+8C>A (n.772+8C>A) c.*868+8C>A (n.*868+8C>A) | gnomAD v4 |
14 | g.31394046A>C | CA2624480767 | HEATR5A | c.772+6T>G (n.772+6T>G) c.*868+6T>G (n.*868+6T>G) | gnomAD v4 |
14 | g.31394046A>G | CA2624480768 | HEATR5A | c.772+6T>C (n.772+6T>C) c.*868+6T>C (n.*868+6T>C) | gnomAD v4 |
14 | g.31394047T>C | CA2624480770 | HEATR5A | c.772+5A>G (n.772+5A>G) c.*868+5A>G (n.*868+5A>G) | gnomAD v4 |
14 | g.31394049del | CA2624480769 | HEATR5A | c.772+5del (n.772+5del) c.*868+5del (n.*868+5del) | gnomAD v4 |
14 | g.31394048T>C | CA2624480771 | HEATR5A | c.772+4A>G (n.772+4A>G) c.*868+4A>G (n.*868+4A>G) | gnomAD v4 |
14 | g.31394049T>C | CA2624480772 | HEATR5A | c.772+3A>G (n.772+3A>G) c.*868+3A>G (n.*868+3A>G) | gnomAD v4 |
14 | g.31394050A= | CA2127219242 | HEATR5A | c.772+2T= (n.772+2T=) c.*868+2T= (n.*868+2T=) | |
14 | g.31394050A>C | CA389385847 | HEATR5A | c.772+2T>G (n.772+2T>G) c.*868+2T>G (n.*868+2T>G) | |
14 | g.31394050A>G | CA389385852 | HEATR5A | c.772+2T>C (n.772+2T>C) c.*868+2T>C (n.*868+2T>C) | |
14 | g.31394050A>T | CA258630423 | HEATR5A | c.772+2T>A (n.772+2T>A) c.*868+2T>A (n.*868+2T>A) | dbSNP gnomAD v4 |
14 | g.31394051C>A | CA389385857 | HEATR5A | c.772+1G>T (n.772+1G>T) c.*868+1G>T (n.*868+1G>T) | |
14 | g.31394051C>G | CA389385861 | HEATR5A | c.772+1G>C (n.772+1G>C) c.*868+1G>C (n.*868+1G>C) | gnomAD v4 |
14 | g.31394051C>T | CA389385864 | HEATR5A | c.772+1G>A (n.772+1G>A) c.*868+1G>A (n.*868+1G>A) | gnomAD v4 |
14 | g.31394052C>A | CA389385869 | HEATR5A | c.772G>T (p.Ala258Ser) c.*868G>T (n.*868G>T) | gnomAD v4 |
14 | g.31394052C>G | CA389385872 | HEATR5A | c.772G>C (p.Ala258Pro) c.*868G>C (n.*868G>C) | |
14 | g.31394052C>T | CA389385875 | HEATR5A | c.772G>A (p.Ala258Thr) c.*868G>A (n.*868G>A) | |
14 | g.31394053T>A | CA485849687 | HEATR5A | c.771A>T (p.Thr257=) c.*867A>T (n.*867A>T) | |
14 | g.31394053T>C | CA485849688 | HEATR5A | c.771A>G (p.Thr257=) c.*867A>G (n.*867A>G) | |
14 | g.31394053T>G | CA485849689 | HEATR5A | c.771A>C (p.Thr257=) c.*867A>C (n.*867A>C) | |
14 | g.31394054G>A | CA389385888 | HEATR5A | c.770C>T (p.Thr257Ile) c.*866C>T (n.*866C>T) | gnomAD v4 |
14 | g.31394054G>C | CA389385883 | HEATR5A | c.770C>G (p.Thr257Arg) c.*866C>G (n.*866C>G) | |
14 | g.31394054G>T | CA389385880 | HEATR5A | c.770C>A (p.Thr257Lys) c.*866C>A (n.*866C>A) | gnomAD v4 |
14 | g.31394055T>A | CA389385892 | HEATR5A | c.769A>T (p.Thr257Ser) c.*865A>T (n.*865A>T) | |
14 | g.31394055T>C | CA389385897 | HEATR5A | c.769A>G (p.Thr257Ala) c.*865A>G (n.*865A>G) | dbSNP |
14 | g.31394055T>G | CA389385901 | HEATR5A | c.769A>C (p.Thr257Pro) c.*865A>C (n.*865A>C) | |
14 | g.31394055T= | CA2127219243 | HEATR5A | c.769A= (p.Thr257=) c.*865A= (n.*865A=) | |
14 | g.31394056T>A | CA485849691 | HEATR5A | c.768A>T (p.Gly256=) c.*864A>T (n.*864A>T) | |
14 | g.31394056T>C | CA485849692 | HEATR5A | c.768A>G (p.Gly256=) c.*864A>G (n.*864A>G) | gnomAD v4 |
14 | g.31394056T>G | CA485849693 | HEATR5A | c.768A>C (p.Gly256=) c.*864A>C (n.*864A>C) | |
14 | g.31394057C>A | CA389385906 | HEATR5A | c.767G>T (p.Gly256Val) c.*863G>T (n.*863G>T) | |
14 | g.31394057C= | CA2127219244 | HEATR5A | c.767G= (p.Gly256=) c.*863G= (n.*863G=) | |
14 | g.31394057C>G | CA389385909 | HEATR5A | c.767G>C (p.Gly256Ala) c.*863G>C (n.*863G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.31394057C>T | CA389385910 | HEATR5A | c.767G>A (p.Gly256Glu) c.*863G>A (n.*863G>A) | gnomAD v4 |
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) |