Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.149482905C>ACA414517968IDSc.1494G>T (p.Arg498Ser)
c.861G>T (p.Arg287Ser)
c.1224G>T (p.Arg408Ser)
 dbSNP
Xg.149482905C=CA2465003969IDSc.1494G= (p.Arg498=)
c.861G= (p.Arg287=)
c.1224G= (p.Arg408=)
Xg.149482905C>GCA414517969IDSc.1494G>C (p.Arg498Ser)
c.861G>C (p.Arg287Ser)
c.1224G>C (p.Arg408Ser)
Xg.149482905C>TCA519057460IDSc.1494G>A (p.Arg498=)
c.861G>A (p.Arg287=)
c.1224G>A (p.Arg408=)
Xg.149482906delCA2580101606IDSc.1494del (p.Arg498SerfsTer14)
c.861del (p.Arg287SerfsTer14)
c.1224del (p.Arg408SerfsTer14)
 ClinVar
Xg.149482906C>ACA414517970IDSc.1493G>T (p.Arg498Met)
c.860G>T (p.Arg287Met)
c.1223G>T (p.Arg408Met)
Xg.149482906C=CA2465003970IDSc.1493G= (p.Arg498=)
c.860G= (p.Arg287=)
c.1223G= (p.Arg408=)
Xg.149482906C>GCA414517971IDSc.1493G>C (p.Arg498Thr)
c.860G>C (p.Arg287Thr)
c.1223G>C (p.Arg408Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.149482906C>TCA414517972IDSc.1493G>A (p.Arg498Lys)
c.860G>A (p.Arg287Lys)
c.1223G>A (p.Arg408Lys)
 gnomAD v4
Xg.149482907T>ACA414517973IDSc.1492A>T (p.Arg498Trp)
c.859A>T (p.Arg287Trp)
c.1222A>T (p.Arg408Trp)
Xg.149482907T>CCA414517974IDSc.1492A>G (p.Arg498Gly)
c.859A>G (p.Arg287Gly)
c.1222A>G (p.Arg408Gly)
Xg.149482907T>GCA519057461IDSc.1492A>C (p.Arg498=)
c.859A>C (p.Arg287=)
c.1222A>C (p.Arg408=)
Xg.149482909_149482910dupCA2465003971IDSc.1491_1492dup (p.Arg498IlefsTer15)
c.858_859dup (p.Arg287IlefsTer15)
c.1221_1222dup (p.Arg408IlefsTer15)
 ClinVar dbSNP
Xg.149482908A>CCA414517975IDSc.1491T>G (p.Tyr497Ter)
c.858T>G (p.Tyr286Ter)
c.1221T>G (p.Tyr407Ter)
Xg.149482908A>GCA519057462IDSc.1491T>C (p.Tyr497=)
c.858T>C (p.Tyr286=)
c.1221T>C (p.Tyr407=)
 gnomAD v4
Xg.149482908A>TCA414517976IDSc.1491T>A (p.Tyr497Ter)
c.858T>A (p.Tyr286Ter)
c.1221T>A (p.Tyr407Ter)
Xg.149482909T>ACA414517977IDSc.1490A>T (p.Tyr497Phe)
c.857A>T (p.Tyr286Phe)
c.1220A>T (p.Tyr407Phe)
Xg.149482909T>CCA10537438IDSc.1490A>G (p.Tyr497Cys)
c.857A>G (p.Tyr286Cys)
c.1220A>G (p.Tyr407Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.149482909T>GCA414517978IDSc.1490A>C (p.Tyr497Ser)
c.857A>C (p.Tyr286Ser)
c.1220A>C (p.Tyr407Ser)
Xg.149482909T=CA2465003972IDSc.1490A= (p.Tyr497=)
c.857A= (p.Tyr286=)
c.1220A= (p.Tyr407=)
Xg.149482910A=CA2465003973IDSc.1489T= (p.Tyr497=)
c.856T= (p.Tyr286=)
c.1219T= (p.Tyr407=)
Xg.149482910A>CCA414517979IDSc.1489T>G (p.Tyr497Asp)
c.856T>G (p.Tyr286Asp)
c.1219T>G (p.Tyr407Asp)
Xg.149482910A>GCA414517980IDSc.1489T>C (p.Tyr497His)
c.856T>C (p.Tyr286His)
c.1219T>C (p.Tyr407His)
Xg.149482910A>TCA337035524IDSc.1489T>A (p.Tyr497Asn)
c.856T>A (p.Tyr286Asn)
c.1219T>A (p.Tyr407Asn)
 dbSNP
Xg.149482910dupCA2695236483IDSc.1489dup (p.Tyr497LeufsTer2)
c.856dup (p.Tyr286LeufsTer2)
c.1219dup (p.Tyr407LeufsTer2)
Xg.149482911G>ACA519057463IDSc.1488C>T (p.Asp496=)
c.855C>T (p.Asp285=)
c.1218C>T (p.Asp406=)
Xg.149482911G>CCA414517981IDSc.1488C>G (p.Asp496Glu)
c.855C>G (p.Asp285Glu)
c.1218C>G (p.Asp406Glu)
Xg.149482911G>TCA414517982IDSc.1488C>A (p.Asp496Glu)
c.855C>A (p.Asp285Glu)
c.1218C>A (p.Asp406Glu)
Xg.149482913_149482919delCA2695236484IDSc.1482_1488del (p.Asp496GlyfsTer14)
c.849_855del (p.Asp285GlyfsTer14)
c.1212_1218del (p.Asp406GlyfsTer14)
Xg.149482912T>ACA414517983IDSc.1487A>T (p.Asp496Val)
c.854A>T (p.Asp285Val)
c.1217A>T (p.Asp406Val)
Xg.149482912T>CCA414517984IDSc.1487A>G (p.Asp496Gly)
c.854A>G (p.Asp285Gly)
c.1217A>G (p.Asp406Gly)
Xg.149482912T>GCA414517985IDSc.1487A>C (p.Asp496Ala)
c.854A>C (p.Asp285Ala)
c.1217A>C (p.Asp406Ala)
Xg.149482913C>ACA414517986IDSc.1486G>T (p.Asp496Tyr)
c.853G>T (p.Asp285Tyr)
c.1216G>T (p.Asp406Tyr)
Xg.149482913C>GCA414517987IDSc.1486G>C (p.Asp496His)
c.853G>C (p.Asp285His)
c.1216G>C (p.Asp406His)
Xg.149482913C>TCA414517988IDSc.1486G>A (p.Asp496Asn)
c.853G>A (p.Asp285Asn)
c.1216G>A (p.Asp406Asn)
 gnomAD v4
Xg.149482914T>ACA519057464IDSc.1485A>T (p.Ile495=)
c.852A>T (p.Ile284=)
c.1215A>T (p.Ile405=)
Xg.149482914T>CCA414517989IDSc.1485A>G (p.Ile495Met)
c.852A>G (p.Ile284Met)
c.1215A>G (p.Ile405Met)
 COSMIC
Xg.149482914T>GCA519057465IDSc.1485A>C (p.Ile495=)
c.852A>C (p.Ile284=)
c.1215A>C (p.Ile405=)
Xg.149482914_149482915insTACA2695236485IDSc.1484_1485insTA (p.Asp496LysfsTer17)
c.851_852insTA (p.Asp285LysfsTer17)
c.1214_1215insTA (p.Asp406LysfsTer17)
Xg.149482915A=CA2465003974IDSc.1484T= (p.Ile495=)
c.851T= (p.Ile284=)
c.1214T= (p.Ile405=)
Xg.149482915A>CCA414517990IDSc.1484T>G (p.Ile495Arg)
c.851T>G (p.Ile284Arg)
c.1214T>G (p.Ile405Arg)
Xg.149482915A>GCA414517991IDSc.1484T>C (p.Ile495Thr)
c.851T>C (p.Ile284Thr)
c.1214T>C (p.Ile405Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.149482915A>TCA414517992IDSc.1484T>A (p.Ile495Lys)
c.851T>A (p.Ile284Lys)
c.1214T>A (p.Ile405Lys)
Xg.149482916T>ACA414517994IDSc.1483A>T (p.Ile495Leu)
c.850A>T (p.Ile284Leu)
c.1213A>T (p.Ile405Leu)
Xg.149482916T>CCA10537439IDSc.1483A>G (p.Ile495Val)
c.850A>G (p.Ile284Val)
c.1213A>G (p.Ile405Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.149482916T>GCA414517993IDSc.1483A>C (p.Ile495Leu)
c.850A>C (p.Ile284Leu)
c.1213A>C (p.Ile405Leu)
Xg.149482916T=CA2465003975IDSc.1483A= (p.Ile495=)
c.850A= (p.Ile284=)
c.1213A= (p.Ile405=)
Xg.149482917G>ACA519057466IDSc.1482C>T (p.Thr494=)
c.849C>T (p.Thr283=)
c.1212C>T (p.Thr404=)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.149482917G>CCA519057467IDSc.1482C>G (p.Thr494=)
c.849C>G (p.Thr283=)
c.1212C>G (p.Thr404=)
Xg.149482917G>TCA519057468IDSc.1482C>A (p.Thr494=)
c.849C>A (p.Thr283=)
c.1212C>A (p.Thr404=)
 gnomAD v4

Number of alleles fetched