Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.37075180C>ACA411421966TMPRSS6c.1297G>T (p.Gly433Trp)
c.1324G>T (p.Gly442Trp)
c.865G>T (p.Gly289Trp)
22g.37075180C=CA2404171275TMPRSS6c.1297G= (p.Gly433=)
c.1324G= (p.Gly442=)
c.865G= (p.Gly289=)
22g.37075180C>GCA411421967TMPRSS6c.1297G>C (p.Gly433Arg)
c.1324G>C (p.Gly442Arg)
c.865G>C (p.Gly289Arg)
22g.37075180C>TCA114989TMPRSS6c.1297G>A (p.Gly433Arg)
c.1324G>A (p.Gly442Arg)
c.865G>A (p.Gly289Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37075181G>ACA10215667TMPRSS6c.1296C>T (p.Thr432=)
c.1323C>T (p.Thr441=)
c.864C>T (p.Thr288=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075181G>CCA514482554TMPRSS6c.1296C>G (p.Thr432=)
c.1323C>G (p.Thr441=)
c.864C>G (p.Thr288=)
22g.37075181G=CA2404171276TMPRSS6c.1296C= (p.Thr432=)
c.1323C= (p.Thr441=)
c.864C= (p.Thr288=)
22g.37075181G>TCA514482555TMPRSS6c.1296C>A (p.Thr432=)
c.1323C>A (p.Thr441=)
c.864C>A (p.Thr288=)
22g.37075182G>ACA411421972TMPRSS6c.1295C>T (p.Thr432Ile)
c.1322C>T (p.Thr441Ile)
c.863C>T (p.Thr288Ile)
22g.37075182G>CCA411421975TMPRSS6c.1295C>G (p.Thr432Ser)
c.1322C>G (p.Thr441Ser)
c.863C>G (p.Thr288Ser)
22g.37075182G>TCA411421973TMPRSS6c.1295C>A (p.Thr432Asn)
c.1322C>A (p.Thr441Asn)
c.863C>A (p.Thr288Asn)
22g.37075183T>ACA411421978TMPRSS6c.1294A>T (p.Thr432Ser)
c.1321A>T (p.Thr441Ser)
c.862A>T (p.Thr288Ser)
22g.37075183T>CCA411421981TMPRSS6c.1294A>G (p.Thr432Ala)
c.1321A>G (p.Thr441Ala)
c.862A>G (p.Thr288Ala)
22g.37075183T>GCA411421979TMPRSS6c.1294A>C (p.Thr432Pro)
c.1321A>C (p.Thr441Pro)
c.862A>C (p.Thr288Pro)
 gnomAD v4
22g.37075184G>ACA514482559TMPRSS6c.1293C>T (p.Leu431=)
c.1320C>T (p.Leu440=)
c.861C>T (p.Leu287=)
22g.37075184G>CCA514482560TMPRSS6c.1293C>G (p.Leu431=)
c.1320C>G (p.Leu440=)
c.861C>G (p.Leu287=)
22g.37075184G>TCA514482561TMPRSS6c.1293C>A (p.Leu431=)
c.1320C>A (p.Leu440=)
c.861C>A (p.Leu287=)
22g.37075185A=CA2404171277TMPRSS6c.1292T= (p.Leu431=)
c.1319T= (p.Leu440=)
c.860T= (p.Leu287=)
22g.37075185A>CCA411421983TMPRSS6c.1292T>G (p.Leu431Arg)
c.1319T>G (p.Leu440Arg)
c.860T>G (p.Leu287Arg)
22g.37075185A>GCA10215668TMPRSS6c.1292T>C (p.Leu431Pro)
c.1319T>C (p.Leu440Pro)
c.860T>C (p.Leu287Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37075185A>TCA411421985TMPRSS6c.1292T>A (p.Leu431His)
c.1319T>A (p.Leu440His)
c.860T>A (p.Leu287His)
22g.37075186G>ACA10215670TMPRSS6c.1291C>T (p.Leu431Phe)
c.1318C>T (p.Leu440Phe)
c.859C>T (p.Leu287Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075186G>CCA10215669TMPRSS6c.1291C>G (p.Leu431Val)
c.1318C>G (p.Leu440Val)
c.859C>G (p.Leu287Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075186G=CA2404171278TMPRSS6c.1291C= (p.Leu431=)
c.1318C= (p.Leu440=)
c.859C= (p.Leu287=)
22g.37075186G>TCA411421987TMPRSS6c.1291C>A (p.Leu431Ile)
c.1318C>A (p.Leu440Ile)
c.859C>A (p.Leu287Ile)
22g.37075187G>ACA10215671TMPRSS6c.1290C>T (p.Ser430=)
c.1317C>T (p.Ser439=)
c.858C>T (p.Ser286=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.37075187G>CCA514482563TMPRSS6c.1290C>G (p.Ser430=)
c.1317C>G (p.Ser439=)
c.858C>G (p.Ser286=)
22g.37075187G=CA2404171279TMPRSS6c.1290C= (p.Ser430=)
c.1317C= (p.Ser439=)
c.858C= (p.Ser286=)
22g.37075187G>TCA514482564TMPRSS6c.1290C>A (p.Ser430=)
c.1317C>A (p.Ser439=)
c.858C>A (p.Ser286=)
22g.37075187_37075188insTTGGGGCAGTCCTTCA2656484732TMPRSS6c.1289_1290insAAGGACTGCCCCAA (p.Leu431ArgfsTer32)
c.1316_1317insAAGGACTGCCCCAA (p.Leu440ArgfsTer32)
c.857_858insAAGGACTGCCCCAA (p.Leu287ArgfsTer32)
 gnomAD v4
22g.37075188G>ACA411421989TMPRSS6c.1289C>T (p.Ser430Phe)
c.1316C>T (p.Ser439Phe)
c.857C>T (p.Ser286Phe)
22g.37075188G>CCA411421990TMPRSS6c.1289C>G (p.Ser430Cys)
c.1316C>G (p.Ser439Cys)
c.857C>G (p.Ser286Cys)
22g.37075188G>TCA411421992TMPRSS6c.1289C>A (p.Ser430Tyr)
c.1316C>A (p.Ser439Tyr)
c.857C>A (p.Ser286Tyr)
22g.37075189A=CA2404171280TMPRSS6c.1288T= (p.Ser430=)
c.1315T= (p.Ser439=)
c.856T= (p.Ser286=)
22g.37075189A>CCA411421995TMPRSS6c.1288T>G (p.Ser430Ala)
c.1315T>G (p.Ser439Ala)
c.856T>G (p.Ser286Ala)
22g.37075189A>GCA324050252TMPRSS6c.1288T>C (p.Ser430Pro)
c.1315T>C (p.Ser439Pro)
c.856T>C (p.Ser286Pro)
 dbSNP gnomAD v3 gnomAD v4
22g.37075189A>TCA411421997TMPRSS6c.1288T>A (p.Ser430Thr)
c.1315T>A (p.Ser439Thr)
c.856T>A (p.Ser286Thr)
22g.37075189_37075190insCCCCATCACAGGCAGGCA2656484737TMPRSS6c.1287_1288insCCTGCCTGTGATGGGG (p.Ser430ProfsTer?)
c.1314_1315insCCTGCCTGTGATGGGG (p.Ser439ProfsTer?)
c.855_856insCCTGCCTGTGATGGGG (p.Ser286ProfsTer?)
 gnomAD v4
22g.37075190G>ACA514482566TMPRSS6c.1287C>T (p.Ile429=)
c.1314C>T (p.Ile438=)
c.855C>T (p.Ile285=)
22g.37075190G>CCA411421999TMPRSS6c.1287C>G (p.Ile429Met)
c.1314C>G (p.Ile438Met)
c.855C>G (p.Ile285Met)
22g.37075190G>TCA514482567TMPRSS6c.1287C>A (p.Ile429=)
c.1314C>A (p.Ile438=)
c.855C>A (p.Ile285=)
22g.37075191A>CCA411422001TMPRSS6c.1286T>G (p.Ile429Ser)
c.1313T>G (p.Ile438Ser)
c.854T>G (p.Ile285Ser)
22g.37075191A>GCA411422002TMPRSS6c.1286T>C (p.Ile429Thr)
c.1313T>C (p.Ile438Thr)
c.854T>C (p.Ile285Thr)
22g.37075191A>TCA411422004TMPRSS6c.1286T>A (p.Ile429Asn)
c.1313T>A (p.Ile438Asn)
c.854T>A (p.Ile285Asn)
22g.37075191_37075192insCACAGAGTCCATTCACAGAACAGAGGAACCA2656484740TMPRSS6c.1285_1286insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile429SerfsTer6)
c.1312_1313insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile438SerfsTer6)
c.853_854insGTTCCTCTGTTCTGTGAATGGACTCTGTG (p.Ile285SerfsTer6)
 gnomAD v4
22g.37075192T>ACA411422006TMPRSS6c.1285A>T (p.Ile429Phe)
c.1312A>T (p.Ile438Phe)
c.853A>T (p.Ile285Phe)
22g.37075192T>CCA411422007TMPRSS6c.1285A>G (p.Ile429Val)
c.1312A>G (p.Ile438Val)
c.853A>G (p.Ile285Val)
22g.37075192T>GCA411422009TMPRSS6c.1285A>C (p.Ile429Leu)
c.1312A>C (p.Ile438Leu)
c.853A>C (p.Ile285Leu)
22g.37075193C>ACA411422011TMPRSS6c.1284G>T (p.Gln428His)
c.1311G>T (p.Gln437His)
c.852G>T (p.Gln284His)
22g.37075193C>GCA411422013TMPRSS6c.1284G>C (p.Gln428His)
c.1311G>C (p.Gln437His)
c.852G>C (p.Gln284His)
 gnomAD v4

Number of alleles fetched