Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.37084241_37084259delCA2577705926TMPRSS6c.1196+43_1196+61del (n.1196+43_1196+61del)
c.1239_1257del (p.Pro414GlnfsTer2)
c.1223+43_1223+61del (n.1223+43_1223+61del)
c.209+43_209+61del (n.209+43_209+61del)
c.1266_1284del (p.Pro423GlnfsTer2)
c.764+43_764+61del (n.764+43_764+61del)
22g.37084239_37084261delCA2656489222TMPRSS6c.1196+39_1196+61del (n.1196+39_1196+61del)
c.1235_1257del (p.Pro412LeufsTer?)
c.1223+39_1223+61del (n.1223+39_1223+61del)
c.209+39_209+61del (n.209+39_209+61del)
c.1262_1284del (p.Pro421LeufsTer?)
c.764+39_764+61del (n.764+39_764+61del)
gnomAD v4
22g.37084248_37084285delCA2656489246TMPRSS6c.1196+16_1196+53del (n.1196+16_1196+53del)
c.1212_1249del (p.Trp407LeufsTer?)
c.1223+16_1223+53del (n.1223+16_1223+53del)
c.209+16_209+53del (n.209+16_209+53del)
c.1239_1276del (p.Trp416LeufsTer?)
c.764+16_764+53del (n.764+16_764+53del)
gnomAD v4
22g.37084252_37084280delCA2656489249TMPRSS6c.1196+24_1196+52del (n.1196+24_1196+52del)
c.1220_1248del (p.Trp407SerfsTer?)
c.1223+24_1223+52del (n.1223+24_1223+52del)
c.209+24_209+52del (n.209+24_209+52del)
c.1247_1275del (p.Trp416SerfsTer?)
c.764+24_764+52del (n.764+24_764+52del)
gnomAD v4
22g.37084252_37084261delCA2656489293TMPRSS6c.1196+42_1196+51del (n.1196+42_1196+51del)
c.1238_1247del (p.Pro413LeufsTer6)
c.1223+42_1223+51del (n.1223+42_1223+51del)
c.209+42_209+51del (n.209+42_209+51del)
c.1265_1274del (p.Pro422LeufsTer6)
c.764+42_764+51del (n.764+42_764+51del)
gnomAD v4
22g.37084245A=CA2404175825TMPRSS6c.1196+50T= (n.1196+50T=)
c.1246T= (p.Ser416=)
c.1223+50T= (n.1223+50T=)
c.209+50T= (n.209+50T=)
c.1273T= (p.Ser425=)
c.764+50T= (n.764+50T=)
22g.37084245A>CCA411423922TMPRSS6c.1196+50T>G (n.1196+50T>G)
c.1246T>G (p.Ser416Ala)
c.1223+50T>G (n.1223+50T>G)
c.209+50T>G (n.209+50T>G)
c.1273T>G (p.Ser425Ala)
c.764+50T>G (n.764+50T>G)
gnomAD v3 gnomAD v4
22g.37084245A>GCA411423924TMPRSS6c.1196+50T>C (n.1196+50T>C)
c.1246T>C (p.Ser416Pro)
c.1223+50T>C (n.1223+50T>C)
c.209+50T>C (n.209+50T>C)
c.1273T>C (p.Ser425Pro)
c.764+50T>C (n.764+50T>C)
dbSNP gnomAD v3 gnomAD v4
22g.37084245A>TCA411423926TMPRSS6c.1196+50T>A (n.1196+50T>A)
c.1246T>A (p.Ser416Thr)
c.1223+50T>A (n.1223+50T>A)
c.209+50T>A (n.209+50T>A)
c.1273T>A (p.Ser425Thr)
c.764+50T>A (n.764+50T>A)
dbSNP gnomAD v3 gnomAD v4
22g.37084246G>ACA324060049TMPRSS6c.1196+49C>T (n.1196+49C>T)
c.1245C>T (p.Pro415=)
c.1223+49C>T (n.1223+49C>T)
c.209+49C>T (n.209+49C>T)
c.1272C>T (p.Pro424=)
c.764+49C>T (n.764+49C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37084246G=CA2404175826TMPRSS6c.1196+49C= (n.1196+49C=)
c.1245C= (p.Pro415=)
c.1223+49C= (n.1223+49C=)
c.209+49C= (n.209+49C=)
c.1272C= (p.Pro424=)
c.764+49C= (n.764+49C=)
22g.37084246G>TCA2577705927TMPRSS6c.1196+49C>A (n.1196+49C>A)
c.1245C>A (p.Pro415=)
c.1223+49C>A (n.1223+49C>A)
c.209+49C>A (n.209+49C>A)
c.1272C>A (p.Pro424=)
c.764+49C>A (n.764+49C>A)
gnomAD v4
22g.37084253_37084258delCA2656489297TMPRSS6c.1196+44_1196+49del (n.1196+44_1196+49del)
c.1240_1245del (p.Pro414_Pro415del)
c.1223+44_1223+49del (n.1223+44_1223+49del)
c.209+44_209+49del (n.209+44_209+49del)
c.1267_1272del (p.Pro423_Pro424del)
c.764+44_764+49del (n.764+44_764+49del)
gnomAD v4
22g.37084247G>ACA411423927TMPRSS6c.1196+48C>T (n.1196+48C>T)
c.1244C>T (p.Pro415Leu)
c.1223+48C>T (n.1223+48C>T)
c.209+48C>T (n.209+48C>T)
c.1271C>T (p.Pro424Leu)
c.764+48C>T (n.764+48C>T)
22g.37084247G>CCA411423929TMPRSS6c.1196+48C>G (n.1196+48C>G)
c.1244C>G (p.Pro415Arg)
c.1223+48C>G (n.1223+48C>G)
c.209+48C>G (n.209+48C>G)
c.1271C>G (p.Pro424Arg)
c.764+48C>G (n.764+48C>G)
22g.37084247G>TCA411423931TMPRSS6c.1196+48C>A (n.1196+48C>A)
c.1244C>A (p.Pro415His)
c.1223+48C>A (n.1223+48C>A)
c.209+48C>A (n.209+48C>A)
c.1271C>A (p.Pro424His)
c.764+48C>A (n.764+48C>A)
22g.37084248G>ACA411423933TMPRSS6c.1196+47C>T (n.1196+47C>T)
c.1243C>T (p.Pro415Ser)
c.1223+47C>T (n.1223+47C>T)
c.209+47C>T (n.209+47C>T)
c.1270C>T (p.Pro424Ser)
c.764+47C>T (n.764+47C>T)
dbSNP gnomAD v2 gnomAD v4
22g.37084248G>CCA411423935TMPRSS6c.1196+47C>G (n.1196+47C>G)
c.1243C>G (p.Pro415Ala)
c.1223+47C>G (n.1223+47C>G)
c.209+47C>G (n.209+47C>G)
c.1270C>G (p.Pro424Ala)
c.764+47C>G (n.764+47C>G)
dbSNP
22g.37084248G=CA2404175827TMPRSS6c.1196+47C= (n.1196+47C=)
c.1243C= (p.Pro415=)
c.1223+47C= (n.1223+47C=)
c.209+47C= (n.209+47C=)
c.1270C= (p.Pro424=)
c.764+47C= (n.764+47C=)
22g.37084248G>TCA411423937TMPRSS6c.1196+47C>A (n.1196+47C>A)
c.1243C>A (p.Pro415Thr)
c.1223+47C>A (n.1223+47C>A)
c.209+47C>A (n.209+47C>A)
c.1270C>A (p.Pro424Thr)
c.764+47C>A (n.764+47C>A)
gnomAD v4
22g.37084249A=CA2404175828TMPRSS6c.1196+46T= (n.1196+46T=)
c.1242T= (p.Pro414=)
c.1223+46T= (n.1223+46T=)
c.209+46T= (n.209+46T=)
c.1269T= (p.Pro423=)
c.764+46T= (n.764+46T=)
22g.37084249A>GCA752893033TMPRSS6c.1196+46T>C (n.1196+46T>C)
c.1242T>C (p.Pro414=)
c.1223+46T>C (n.1223+46T>C)
c.209+46T>C (n.209+46T>C)
c.1269T>C (p.Pro423=)
c.764+46T>C (n.764+46T>C)
dbSNP gnomAD v3 gnomAD v4
22g.37084249A>TCA1025533244TMPRSS6c.1196+46T>A (n.1196+46T>A)
c.1242T>A (p.Pro414=)
c.1223+46T>A (n.1223+46T>A)
c.209+46T>A (n.209+46T>A)
c.1269T>A (p.Pro423=)
c.764+46T>A (n.764+46T>A)
gnomAD v3 gnomAD v4
22g.37084250G>ACA411423940TMPRSS6c.1196+45C>T (n.1196+45C>T)
c.1241C>T (p.Pro414Leu)
c.1223+45C>T (n.1223+45C>T)
c.209+45C>T (n.209+45C>T)
c.1268C>T (p.Pro423Leu)
c.764+45C>T (n.764+45C>T)
gnomAD v4
22g.37084250G>CCA411423941TMPRSS6c.1196+45C>G (n.1196+45C>G)
c.1241C>G (p.Pro414Arg)
c.1223+45C>G (n.1223+45C>G)
c.209+45C>G (n.209+45C>G)
c.1268C>G (p.Pro423Arg)
c.764+45C>G (n.764+45C>G)
22g.37084250G=CA2404175829TMPRSS6c.1196+45C= (n.1196+45C=)
c.1241C= (p.Pro414=)
c.1223+45C= (n.1223+45C=)
c.209+45C= (n.209+45C=)
c.1268C= (p.Pro423=)
c.764+45C= (n.764+45C=)
22g.37084250G>TCA411423939TMPRSS6c.1196+45C>A (n.1196+45C>A)
c.1241C>A (p.Pro414His)
c.1223+45C>A (n.1223+45C>A)
c.209+45C>A (n.209+45C>A)
c.1268C>A (p.Pro423His)
c.764+45C>A (n.764+45C>A)
dbSNP gnomAD v2
22g.37084254delCA2656489311TMPRSS6c.1196+45del (n.1196+45del)
c.1241del (p.Pro414LeufsTer8)
c.1223+45del (n.1223+45del)
c.209+45del (n.209+45del)
c.1268del (p.Pro423LeufsTer8)
c.764+45del (n.764+45del)
gnomAD v4
22g.37084251G>ACA10215734TMPRSS6c.1196+44C>T (n.1196+44C>T)
c.1240C>T (p.Pro414Ser)
c.1223+44C>T (n.1223+44C>T)
c.209+44C>T (n.209+44C>T)
c.1267C>T (p.Pro423Ser)
c.764+44C>T (n.764+44C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084251G>CCA10215733TMPRSS6c.1196+44C>G (n.1196+44C>G)
c.1240C>G (p.Pro414Ala)
c.1223+44C>G (n.1223+44C>G)
c.209+44C>G (n.209+44C>G)
c.1267C>G (p.Pro423Ala)
c.764+44C>G (n.764+44C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084251G=CA2404175830TMPRSS6c.1196+44C= (n.1196+44C=)
c.1240C= (p.Pro414=)
c.1223+44C= (n.1223+44C=)
c.209+44C= (n.209+44C=)
c.1267C= (p.Pro423=)
c.764+44C= (n.764+44C=)
22g.37084251G>TCA411423945TMPRSS6c.1196+44C>A (n.1196+44C>A)
c.1240C>A (p.Pro414Thr)
c.1223+44C>A (n.1223+44C>A)
c.209+44C>A (n.209+44C>A)
c.1267C>A (p.Pro423Thr)
c.764+44C>A (n.764+44C>A)
dbSNP
22g.37084252G>ACA10215735TMPRSS6c.1196+43C>T (n.1196+43C>T)
c.1239C>T (p.Pro413=)
c.1223+43C>T (n.1223+43C>T)
c.209+43C>T (n.209+43C>T)
c.1266C>T (p.Pro422=)
c.764+43C>T (n.764+43C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084252G=CA2404175831TMPRSS6c.1196+43C= (n.1196+43C=)
c.1239C= (p.Pro413=)
c.1223+43C= (n.1223+43C=)
c.209+43C= (n.209+43C=)
c.1266C= (p.Pro422=)
c.764+43C= (n.764+43C=)
22g.37084252G>TCA2656489318TMPRSS6c.1196+43C>A (n.1196+43C>A)
c.1239C>A (p.Pro413=)
c.1223+43C>A (n.1223+43C>A)
c.209+43C>A (n.209+43C>A)
c.1266C>A (p.Pro422=)
c.764+43C>A (n.764+43C>A)
gnomAD v4
22g.37084253G>ACA411423949TMPRSS6c.1196+42C>T (n.1196+42C>T)
c.1238C>T (p.Pro413Leu)
c.1223+42C>T (n.1223+42C>T)
c.209+42C>T (n.209+42C>T)
c.1265C>T (p.Pro422Leu)
c.764+42C>T (n.764+42C>T)
dbSNP gnomAD v3 gnomAD v4
22g.37084253G>CCA411423948TMPRSS6c.1196+42C>G (n.1196+42C>G)
c.1238C>G (p.Pro413Arg)
c.1223+42C>G (n.1223+42C>G)
c.209+42C>G (n.209+42C>G)
c.1265C>G (p.Pro422Arg)
c.764+42C>G (n.764+42C>G)
22g.37084253G=CA2404175832TMPRSS6c.1196+42C= (n.1196+42C=)
c.1238C= (p.Pro413=)
c.1223+42C= (n.1223+42C=)
c.209+42C= (n.209+42C=)
c.1265C= (p.Pro422=)
c.764+42C= (n.764+42C=)
22g.37084253G>TCA411423947TMPRSS6c.1196+42C>A (n.1196+42C>A)
c.1238C>A (p.Pro413His)
c.1223+42C>A (n.1223+42C>A)
c.209+42C>A (n.209+42C>A)
c.1265C>A (p.Pro422His)
c.764+42C>A (n.764+42C>A)
gnomAD v4
22g.37084256_37084262delCA2656489322TMPRSS6c.1196+36_1196+42del (n.1196+36_1196+42del)
c.1232_1238del (p.Leu411ProfsTer9)
c.1223+36_1223+42del (n.1223+36_1223+42del)
c.209+36_209+42del (n.209+36_209+42del)
c.1259_1265del (p.Leu420ProfsTer9)
c.764+36_764+42del (n.764+36_764+42del)
gnomAD v4
22g.37084254_37084282delCA2656489326TMPRSS6c.1196+14_1196+42del (n.1196+14_1196+42del)
c.1210_1238del (p.Ser404ProfsTer?)
c.1223+14_1223+42del (n.1223+14_1223+42del)
c.209+14_209+42del (n.209+14_209+42del)
c.1237_1265del (p.Ser413ProfsTer?)
c.764+14_764+42del (n.764+14_764+42del)
gnomAD v4
22g.37084254G>ACA411423952TMPRSS6c.1196+41C>T (n.1196+41C>T)
c.1237C>T (p.Pro413Ser)
c.1223+41C>T (n.1223+41C>T)
c.209+41C>T (n.209+41C>T)
c.1264C>T (p.Pro422Ser)
c.764+41C>T (n.764+41C>T)
22g.37084254G>CCA411423953TMPRSS6c.1196+41C>G (n.1196+41C>G)
c.1237C>G (p.Pro413Ala)
c.1223+41C>G (n.1223+41C>G)
c.209+41C>G (n.209+41C>G)
c.1264C>G (p.Pro422Ala)
c.764+41C>G (n.764+41C>G)
22g.37084254G=CA2404175833TMPRSS6c.1196+41C= (n.1196+41C=)
c.1237C= (p.Pro413=)
c.1223+41C= (n.1223+41C=)
c.209+41C= (n.209+41C=)
c.1264C= (p.Pro422=)
c.764+41C= (n.764+41C=)
22g.37084254G>TCA10215736TMPRSS6c.1196+41C>A (n.1196+41C>A)
c.1237C>A (p.Pro413Thr)
c.1223+41C>A (n.1223+41C>A)
c.209+41C>A (n.209+41C>A)
c.1264C>A (p.Pro422Thr)
c.764+41C>A (n.764+41C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084263_37084281dupCA2656489330TMPRSS6c.1196+23_1196+41dup (n.1196+23_1196+41dup)
c.1219_1237dup (p.Pro413LeufsTer?)
c.1223+23_1223+41dup (n.1223+23_1223+41dup)
c.209+23_209+41dup (n.209+23_209+41dup)
c.1246_1264dup (p.Pro422LeufsTer?)
c.764+23_764+41dup (n.764+23_764+41dup)
gnomAD v4
22g.37084255delCA2656489334TMPRSS6c.1196+40del (n.1196+40del)
c.1236del (p.Pro414LeufsTer8)
c.1223+40del (n.1223+40del)
c.209+40del (n.209+40del)
c.1263del (p.Pro423LeufsTer8)
c.764+40del (n.764+40del)
gnomAD v4
22g.37084255A>GCA1025533249TMPRSS6c.1196+40T>C (n.1196+40T>C)
c.1236T>C (p.Pro412=)
c.1223+40T>C (n.1223+40T>C)
c.209+40T>C (n.209+40T>C)
c.1263T>C (p.Pro421=)
c.764+40T>C (n.764+40T>C)
gnomAD v3 gnomAD v4
22g.37084255A>TCA2656489335TMPRSS6c.1196+40T>A (n.1196+40T>A)
c.1236T>A (p.Pro412=)
c.1223+40T>A (n.1223+40T>A)
c.209+40T>A (n.209+40T>A)
c.1263T>A (p.Pro421=)
c.764+40T>A (n.764+40T>A)
gnomAD v4
22g.37084256G>ACA324060061TMPRSS6c.1196+39C>T (n.1196+39C>T)
c.1235C>T (p.Pro412Leu)
c.1223+39C>T (n.1223+39C>T)
c.209+39C>T (n.209+39C>T)
c.1262C>T (p.Pro421Leu)
c.764+39C>T (n.764+39C>T)
dbSNP gnomAD v4
22g.37084256G>CCA411423956TMPRSS6c.1196+39C>G (n.1196+39C>G)
c.1235C>G (p.Pro412Arg)
c.1223+39C>G (n.1223+39C>G)
c.209+39C>G (n.209+39C>G)
c.1262C>G (p.Pro421Arg)
c.764+39C>G (n.764+39C>G)
22g.37084256G=CA2404175834TMPRSS6c.1196+39C= (n.1196+39C=)
c.1235C= (p.Pro412=)
c.1223+39C= (n.1223+39C=)
c.209+39C= (n.209+39C=)
c.1262C= (p.Pro421=)
c.764+39C= (n.764+39C=)
22g.37084256G>TCA411423958TMPRSS6c.1196+39C>A (n.1196+39C>A)
c.1235C>A (p.Pro412His)
c.1223+39C>A (n.1223+39C>A)
c.209+39C>A (n.209+39C>A)
c.1262C>A (p.Pro421His)
c.764+39C>A (n.764+39C>A)
gnomAD v4
22g.37084257G>ACA411423963TMPRSS6c.1196+38C>T (n.1196+38C>T)
c.1234C>T (p.Pro412Ser)
c.1223+38C>T (n.1223+38C>T)
c.209+38C>T (n.209+38C>T)
c.1261C>T (p.Pro421Ser)
c.764+38C>T (n.764+38C>T)
22g.37084257G>CCA411423962TMPRSS6c.1196+38C>G (n.1196+38C>G)
c.1234C>G (p.Pro412Ala)
c.1223+38C>G (n.1223+38C>G)
c.209+38C>G (n.209+38C>G)
c.1261C>G (p.Pro421Ala)
c.764+38C>G (n.764+38C>G)
22g.37084257G>TCA411423961TMPRSS6c.1196+38C>A (n.1196+38C>A)
c.1234C>A (p.Pro412Thr)
c.1223+38C>A (n.1223+38C>A)
c.209+38C>A (n.209+38C>A)
c.1261C>A (p.Pro421Thr)
c.764+38C>A (n.764+38C>A)
gnomAD v4
22g.37084259delCA2577705928TMPRSS6c.1196+36del (n.1196+36del)
c.1232del (p.Leu411ProfsTer11)
c.1223+36del (n.1223+36del)
c.209+36del (n.209+36del)
c.1259del (p.Leu420ProfsTer11)
c.764+36del (n.764+36del)
22g.37084259A=CA2404175835TMPRSS6c.1196+36T= (n.1196+36T=)
c.1232T= (p.Leu411=)
c.1223+36T= (n.1223+36T=)
c.209+36T= (n.209+36T=)
c.1259T= (p.Leu420=)
c.764+36T= (n.764+36T=)
22g.37084259A>CCA411423966TMPRSS6c.1196+36T>G (n.1196+36T>G)
c.1232T>G (p.Leu411Arg)
c.1223+36T>G (n.1223+36T>G)
c.209+36T>G (n.209+36T>G)
c.1259T>G (p.Leu420Arg)
c.764+36T>G (n.764+36T>G)
22g.37084259A>GCA10215737TMPRSS6c.1196+36T>C (n.1196+36T>C)
c.1232T>C (p.Leu411Pro)
c.1223+36T>C (n.1223+36T>C)
c.209+36T>C (n.209+36T>C)
c.1259T>C (p.Leu420Pro)
c.764+36T>C (n.764+36T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084259A>TCA411423967TMPRSS6c.1196+36T>A (n.1196+36T>A)
c.1232T>A (p.Leu411His)
c.1223+36T>A (n.1223+36T>A)
c.209+36T>A (n.209+36T>A)
c.1259T>A (p.Leu420His)
c.764+36T>A (n.764+36T>A)
22g.37084260G>ACA10215738TMPRSS6c.1196+35C>T (n.1196+35C>T)
c.1231C>T (p.Leu411Phe)
c.1223+35C>T (n.1223+35C>T)
c.209+35C>T (n.209+35C>T)
c.1258C>T (p.Leu420Phe)
c.764+35C>T (n.764+35C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084260G>CCA411423973TMPRSS6c.1196+35C>G (n.1196+35C>G)
c.1231C>G (p.Leu411Val)
c.1223+35C>G (n.1223+35C>G)
c.209+35C>G (n.209+35C>G)
c.1258C>G (p.Leu420Val)
c.764+35C>G (n.764+35C>G)
22g.37084260G=CA2404175836TMPRSS6c.1196+35C= (n.1196+35C=)
c.1231C= (p.Leu411=)
c.1223+35C= (n.1223+35C=)
c.209+35C= (n.209+35C=)
c.1258C= (p.Leu420=)
c.764+35C= (n.764+35C=)
22g.37084260G>TCA411423971TMPRSS6c.1196+35C>A (n.1196+35C>A)
c.1231C>A (p.Leu411Ile)
c.1223+35C>A (n.1223+35C>A)
c.209+35C>A (n.209+35C>A)
c.1258C>A (p.Leu420Ile)
c.764+35C>A (n.764+35C>A)
gnomAD v4
22g.37084261G>CCA411423974TMPRSS6c.1196+34C>G (n.1196+34C>G)
c.1230C>G (p.Phe410Leu)
c.1223+34C>G (n.1223+34C>G)
c.209+34C>G (n.209+34C>G)
c.1257C>G (p.Phe419Leu)
c.764+34C>G (n.764+34C>G)
22g.37084261G>TCA411423976TMPRSS6c.1196+34C>A (n.1196+34C>A)
c.1230C>A (p.Phe410Leu)
c.1223+34C>A (n.1223+34C>A)
c.209+34C>A (n.209+34C>A)
c.1257C>A (p.Phe419Leu)
c.764+34C>A (n.764+34C>A)
gnomAD v4
22g.37084262A>CCA411423978TMPRSS6c.1196+33T>G (n.1196+33T>G)
c.1229T>G (p.Phe410Cys)
c.1223+33T>G (n.1223+33T>G)
c.209+33T>G (n.209+33T>G)
c.1256T>G (p.Phe419Cys)
c.764+33T>G (n.764+33T>G)
22g.37084262A>GCA411423979TMPRSS6c.1196+33T>C (n.1196+33T>C)
c.1229T>C (p.Phe410Ser)
c.1223+33T>C (n.1223+33T>C)
c.209+33T>C (n.209+33T>C)
c.1256T>C (p.Phe419Ser)
c.764+33T>C (n.764+33T>C)
22g.37084262A>TCA411423981TMPRSS6c.1196+33T>A (n.1196+33T>A)
c.1229T>A (p.Phe410Tyr)
c.1223+33T>A (n.1223+33T>A)
c.209+33T>A (n.209+33T>A)
c.1256T>A (p.Phe419Tyr)
c.764+33T>A (n.764+33T>A)
22g.37084263A>CCA411423983TMPRSS6c.1196+32T>G (n.1196+32T>G)
c.1228T>G (p.Phe410Val)
c.1223+32T>G (n.1223+32T>G)
c.209+32T>G (n.209+32T>G)
c.1255T>G (p.Phe419Val)
c.764+32T>G (n.764+32T>G)
22g.37084263A>GCA411423985TMPRSS6c.1196+32T>C (n.1196+32T>C)
c.1228T>C (p.Phe410Leu)
c.1223+32T>C (n.1223+32T>C)
c.209+32T>C (n.209+32T>C)
c.1255T>C (p.Phe419Leu)
c.764+32T>C (n.764+32T>C)
22g.37084263A>TCA411423987TMPRSS6c.1196+32T>A (n.1196+32T>A)
c.1228T>A (p.Phe410Ile)
c.1223+32T>A (n.1223+32T>A)
c.209+32T>A (n.209+32T>A)
c.1255T>A (p.Phe419Ile)
c.764+32T>A (n.764+32T>A)
22g.37084264A>GCA2577705929TMPRSS6c.1196+31T>C (n.1196+31T>C)
c.1227T>C (p.Pro409=)
c.1223+31T>C (n.1223+31T>C)
c.209+31T>C (n.209+31T>C)
c.1254T>C (p.Pro418=)
c.764+31T>C (n.764+31T>C)
22g.37084265G>ACA411423989TMPRSS6c.1196+30C>T (n.1196+30C>T)
c.1226C>T (p.Pro409Leu)
c.1223+30C>T (n.1223+30C>T)
c.209+30C>T (n.209+30C>T)
c.1253C>T (p.Pro418Leu)
c.764+30C>T (n.764+30C>T)
dbSNP gnomAD v2
22g.37084265G>CCA411423990TMPRSS6c.1196+30C>G (n.1196+30C>G)
c.1226C>G (p.Pro409Arg)
c.1223+30C>G (n.1223+30C>G)
c.209+30C>G (n.209+30C>G)
c.1253C>G (p.Pro418Arg)
c.764+30C>G (n.764+30C>G)
22g.37084265G=CA2404175837TMPRSS6c.1196+30C= (n.1196+30C=)
c.1226C= (p.Pro409=)
c.1223+30C= (n.1223+30C=)
c.209+30C= (n.209+30C=)
c.1253C= (p.Pro418=)
c.764+30C= (n.764+30C=)
22g.37084265G>TCA411423992TMPRSS6c.1196+30C>A (n.1196+30C>A)
c.1226C>A (p.Pro409His)
c.1223+30C>A (n.1223+30C>A)
c.209+30C>A (n.209+30C>A)
c.1253C>A (p.Pro418His)
c.764+30C>A (n.764+30C>A)
COSMIC
22g.37084266G>ACA411423994TMPRSS6c.1196+29C>T (n.1196+29C>T)
c.1225C>T (p.Pro409Ser)
c.1223+29C>T (n.1223+29C>T)
c.209+29C>T (n.209+29C>T)
c.1252C>T (p.Pro418Ser)
c.764+29C>T (n.764+29C>T)
dbSNP gnomAD v2
22g.37084266G>CCA324060067TMPRSS6c.1196+29C>G (n.1196+29C>G)
c.1225C>G (p.Pro409Ala)
c.1223+29C>G (n.1223+29C>G)
c.209+29C>G (n.209+29C>G)
c.1252C>G (p.Pro418Ala)
c.764+29C>G (n.764+29C>G)
dbSNP
22g.37084266G=CA2404175838TMPRSS6c.1196+29C= (n.1196+29C=)
c.1225C= (p.Pro409=)
c.1223+29C= (n.1223+29C=)
c.209+29C= (n.209+29C=)
c.1252C= (p.Pro418=)
c.764+29C= (n.764+29C=)
22g.37084266G>TCA411423996TMPRSS6c.1196+29C>A (n.1196+29C>A)
c.1225C>A (p.Pro409Thr)
c.1223+29C>A (n.1223+29C>A)
c.209+29C>A (n.209+29C>A)
c.1252C>A (p.Pro418Thr)
c.764+29C>A (n.764+29C>A)
gnomAD v4
22g.37084267A=CA2404175839TMPRSS6c.1196+28T= (n.1196+28T=)
c.1224T= (p.Leu408=)
c.1223+28T= (n.1223+28T=)
c.209+28T= (n.209+28T=)
c.1251T= (p.Leu417=)
c.764+28T= (n.764+28T=)
22g.37084267A>CCA639393606TMPRSS6c.1196+28T>G (n.1196+28T>G)
c.1224T>G (p.Leu408=)
c.1223+28T>G (n.1223+28T>G)
c.209+28T>G (n.209+28T>G)
c.1251T>G (p.Leu417=)
c.764+28T>G (n.764+28T>G)
dbSNP gnomAD v2 gnomAD v4
22g.37084268A>CCA411423998TMPRSS6c.1196+27T>G (n.1196+27T>G)
c.1223T>G (p.Leu408Arg)
c.1223+27T>G (n.1223+27T>G)
c.209+27T>G (n.209+27T>G)
c.1250T>G (p.Leu417Arg)
c.764+27T>G (n.764+27T>G)
22g.37084268A>GCA411424001TMPRSS6c.1196+27T>C (n.1196+27T>C)
c.1223T>C (p.Leu408Pro)
c.1223+27T>C (n.1223+27T>C)
c.209+27T>C (n.209+27T>C)
c.1250T>C (p.Leu417Pro)
c.764+27T>C (n.764+27T>C)
22g.37084268A>TCA411424000TMPRSS6c.1196+27T>A (n.1196+27T>A)
c.1223T>A (p.Leu408His)
c.1223+27T>A (n.1223+27T>A)
c.209+27T>A (n.209+27T>A)
c.1250T>A (p.Leu417His)
c.764+27T>A (n.764+27T>A)
22g.37084269G>ACA411424002TMPRSS6c.1196+26C>T (n.1196+26C>T)
c.1222C>T (p.Leu408Phe)
c.1223+26C>T (n.1223+26C>T)
c.209+26C>T (n.209+26C>T)
c.1249C>T (p.Leu417Phe)
c.764+26C>T (n.764+26C>T)
gnomAD v4
22g.37084269G>CCA411424003TMPRSS6c.1196+26C>G (n.1196+26C>G)
c.1222C>G (p.Leu408Val)
c.1223+26C>G (n.1223+26C>G)
c.209+26C>G (n.209+26C>G)
c.1249C>G (p.Leu417Val)
c.764+26C>G (n.764+26C>G)
22g.37084269G>TCA411424004TMPRSS6c.1196+26C>A (n.1196+26C>A)
c.1222C>A (p.Leu408Ile)
c.1223+26C>A (n.1223+26C>A)
c.209+26C>A (n.209+26C>A)
c.1249C>A (p.Leu417Ile)
c.764+26C>A (n.764+26C>A)
gnomAD v4
22g.37084270C>ACA411424006TMPRSS6c.1196+25G>T (n.1196+25G>T)
c.1221G>T (p.Trp407Cys)
c.1223+25G>T (n.1223+25G>T)
c.209+25G>T (n.209+25G>T)
c.1248G>T (p.Trp416Cys)
c.764+25G>T (n.764+25G>T)
22g.37084270C>GCA411424008TMPRSS6c.1196+25G>C (n.1196+25G>C)
c.1221G>C (p.Trp407Cys)
c.1223+25G>C (n.1223+25G>C)
c.209+25G>C (n.209+25G>C)
c.1248G>C (p.Trp416Cys)
c.764+25G>C (n.764+25G>C)
22g.37084270C>TCA411424009TMPRSS6c.1196+25G>A (n.1196+25G>A)
c.1221G>A (p.Trp407Ter)
c.1223+25G>A (n.1223+25G>A)
c.209+25G>A (n.209+25G>A)
c.1248G>A (p.Trp416Ter)
c.764+25G>A (n.764+25G>A)
gnomAD v4
22g.37084271C>ACA411424010TMPRSS6c.1196+24G>T (n.1196+24G>T)
c.1220G>T (p.Trp407Leu)
c.1223+24G>T (n.1223+24G>T)
c.209+24G>T (n.209+24G>T)
c.1247G>T (p.Trp416Leu)
c.764+24G>T (n.764+24G>T)
22g.37084271C=CA2404175840TMPRSS6c.1196+24G= (n.1196+24G=)
c.1220G= (p.Trp407=)
c.1223+24G= (n.1223+24G=)
c.209+24G= (n.209+24G=)
c.1247G= (p.Trp416=)
c.764+24G= (n.764+24G=)
22g.37084271C>GCA411424012TMPRSS6c.1196+24G>C (n.1196+24G>C)
c.1220G>C (p.Trp407Ser)
c.1223+24G>C (n.1223+24G>C)
c.209+24G>C (n.209+24G>C)
c.1247G>C (p.Trp416Ser)
c.764+24G>C (n.764+24G>C)
22g.37084271C>TCA411424014TMPRSS6c.1196+24G>A (n.1196+24G>A)
c.1220G>A (p.Trp407Ter)
c.1223+24G>A (n.1223+24G>A)
c.209+24G>A (n.209+24G>A)
c.1247G>A (p.Trp416Ter)
c.764+24G>A (n.764+24G>A)
dbSNP gnomAD v2 gnomAD v4
22g.37084272A>CCA411424018TMPRSS6c.1196+23T>G (n.1196+23T>G)
c.1219T>G (p.Trp407Gly)
c.1223+23T>G (n.1223+23T>G)
c.209+23T>G (n.209+23T>G)
c.1246T>G (p.Trp416Gly)
c.764+23T>G (n.764+23T>G)
22g.37084272A>GCA411424020TMPRSS6c.1196+23T>C (n.1196+23T>C)
c.1219T>C (p.Trp407Arg)
c.1223+23T>C (n.1223+23T>C)
c.209+23T>C (n.209+23T>C)
c.1246T>C (p.Trp416Arg)
c.764+23T>C (n.764+23T>C)
22g.37084272A>TCA411424016TMPRSS6c.1196+23T>A (n.1196+23T>A)
c.1219T>A (p.Trp407Arg)
c.1223+23T>A (n.1223+23T>A)
c.209+23T>A (n.209+23T>A)
c.1246T>A (p.Trp416Arg)
c.764+23T>A (n.764+23T>A)
22g.37084273G>ACA639393607TMPRSS6c.1196+22C>T (n.1196+22C>T)
c.1218C>T (p.Leu406=)
c.1223+22C>T (n.1223+22C>T)
c.209+22C>T (n.209+22C>T)
c.1245C>T (p.Leu415=)
c.764+22C>T (n.764+22C>T)
dbSNP gnomAD v2 gnomAD v4
22g.37084273G=CA2404175841TMPRSS6c.1196+22C= (n.1196+22C=)
c.1218C= (p.Leu406=)
c.1223+22C= (n.1223+22C=)
c.209+22C= (n.209+22C=)
c.1245C= (p.Leu415=)
c.764+22C= (n.764+22C=)
22g.37084273G>TCA2656489361TMPRSS6c.1196+22C>A (n.1196+22C>A)
c.1218C>A (p.Leu406=)
c.1223+22C>A (n.1223+22C>A)
c.209+22C>A (n.209+22C>A)
c.1245C>A (p.Leu415=)
c.764+22C>A (n.764+22C>A)
gnomAD v4
22g.37084274A=CA2404175842TMPRSS6c.1196+21T= (n.1196+21T=)
c.1217T= (p.Leu406=)
c.1223+21T= (n.1223+21T=)
c.209+21T= (n.209+21T=)
c.1244T= (p.Leu415=)
c.764+21T= (n.764+21T=)
22g.37084274A>CCA411424022TMPRSS6c.1196+21T>G (n.1196+21T>G)
c.1217T>G (p.Leu406Arg)
c.1223+21T>G (n.1223+21T>G)
c.209+21T>G (n.209+21T>G)
c.1244T>G (p.Leu415Arg)
c.764+21T>G (n.764+21T>G)
22g.37084274A>GCA411424023TMPRSS6c.1196+21T>C (n.1196+21T>C)
c.1217T>C (p.Leu406Pro)
c.1223+21T>C (n.1223+21T>C)
c.209+21T>C (n.209+21T>C)
c.1244T>C (p.Leu415Pro)
c.764+21T>C (n.764+21T>C)
22g.37084274A>TCA10215739TMPRSS6c.1196+21T>A (n.1196+21T>A)
c.1217T>A (p.Leu406His)
c.1223+21T>A (n.1223+21T>A)
c.209+21T>A (n.209+21T>A)
c.1244T>A (p.Leu415His)
c.764+21T>A (n.764+21T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084275G>ACA411424026TMPRSS6c.1196+20C>T (n.1196+20C>T)
c.1216C>T (p.Leu406Phe)
c.1223+20C>T (n.1223+20C>T)
c.209+20C>T (n.209+20C>T)
c.1243C>T (p.Leu415Phe)
c.764+20C>T (n.764+20C>T)
dbSNP gnomAD v2 gnomAD v4
22g.37084275G>CCA411424028TMPRSS6c.1196+20C>G (n.1196+20C>G)
c.1216C>G (p.Leu406Val)
c.1223+20C>G (n.1223+20C>G)
c.209+20C>G (n.209+20C>G)
c.1243C>G (p.Leu415Val)
c.764+20C>G (n.764+20C>G)
22g.37084275G=CA2404175843TMPRSS6c.1196+20C= (n.1196+20C=)
c.1216C= (p.Leu406=)
c.1223+20C= (n.1223+20C=)
c.209+20C= (n.209+20C=)
c.1243C= (p.Leu415=)
c.764+20C= (n.764+20C=)
22g.37084275G>TCA411424030TMPRSS6c.1196+20C>A (n.1196+20C>A)
c.1216C>A (p.Leu406Ile)
c.1223+20C>A (n.1223+20C>A)
c.209+20C>A (n.209+20C>A)
c.1243C>A (p.Leu415Ile)
c.764+20C>A (n.764+20C>A)
gnomAD v4
22g.37084276G>ACA2508952602TMPRSS6c.1196+19C>T (n.1196+19C>T)
c.1215C>T (p.Ser405=)
c.1223+19C>T (n.1223+19C>T)
c.209+19C>T (n.209+19C>T)
c.1242C>T (p.Ser414=)
c.764+19C>T (n.764+19C>T)
22g.37084277G>ACA411424032TMPRSS6c.1196+18C>T (n.1196+18C>T)
c.1214C>T (p.Ser405Phe)
c.1223+18C>T (n.1223+18C>T)
c.209+18C>T (n.209+18C>T)
c.1241C>T (p.Ser414Phe)
c.764+18C>T (n.764+18C>T)
22g.37084277G>CCA411424033TMPRSS6c.1196+18C>G (n.1196+18C>G)
c.1214C>G (p.Ser405Cys)
c.1223+18C>G (n.1223+18C>G)
c.209+18C>G (n.209+18C>G)
c.1241C>G (p.Ser414Cys)
c.764+18C>G (n.764+18C>G)
dbSNP gnomAD v2 gnomAD v4
22g.37084277G=CA2404175844TMPRSS6c.1196+18C= (n.1196+18C=)
c.1214C= (p.Ser405=)
c.1223+18C= (n.1223+18C=)
c.209+18C= (n.209+18C=)
c.1241C= (p.Ser414=)
c.764+18C= (n.764+18C=)
22g.37084277G>TCA411424035TMPRSS6c.1196+18C>A (n.1196+18C>A)
c.1214C>A (p.Ser405Tyr)
c.1223+18C>A (n.1223+18C>A)
c.209+18C>A (n.209+18C>A)
c.1241C>A (p.Ser414Tyr)
c.764+18C>A (n.764+18C>A)
22g.37084278A=CA2404175845TMPRSS6c.1196+17T= (n.1196+17T=)
c.1213T= (p.Ser405=)
c.1223+17T= (n.1223+17T=)
c.209+17T= (n.209+17T=)
c.1240T= (p.Ser414=)
c.764+17T= (n.764+17T=)
22g.37084278A>CCA324060081TMPRSS6c.1196+17T>G (n.1196+17T>G)
c.1213T>G (p.Ser405Ala)
c.1223+17T>G (n.1223+17T>G)
c.209+17T>G (n.209+17T>G)
c.1240T>G (p.Ser414Ala)
c.764+17T>G (n.764+17T>G)
dbSNP
22g.37084278A>GCA411424038TMPRSS6c.1196+17T>C (n.1196+17T>C)
c.1213T>C (p.Ser405Pro)
c.1223+17T>C (n.1223+17T>C)
c.209+17T>C (n.209+17T>C)
c.1240T>C (p.Ser414Pro)
c.764+17T>C (n.764+17T>C)
gnomAD v4
22g.37084278A>TCA411424040TMPRSS6c.1196+17T>A (n.1196+17T>A)
c.1213T>A (p.Ser405Thr)
c.1223+17T>A (n.1223+17T>A)
c.209+17T>A (n.209+17T>A)
c.1240T>A (p.Ser414Thr)
c.764+17T>A (n.764+17T>A)
dbSNP
22g.37084280G>ACA411424044TMPRSS6c.1196+15C>T (n.1196+15C>T)
c.1211C>T (p.Ser404Phe)
c.1223+15C>T (n.1223+15C>T)
c.209+15C>T (n.209+15C>T)
c.1238C>T (p.Ser413Phe)
c.764+15C>T (n.764+15C>T)
22g.37084280G>CCA411424042TMPRSS6c.1196+15C>G (n.1196+15C>G)
c.1211C>G (p.Ser404Cys)
c.1223+15C>G (n.1223+15C>G)
c.209+15C>G (n.209+15C>G)
c.1238C>G (p.Ser413Cys)
c.764+15C>G (n.764+15C>G)
dbSNP
22g.37084280G=CA2404175846TMPRSS6c.1196+15C= (n.1196+15C=)
c.1211C= (p.Ser404=)
c.1223+15C= (n.1223+15C=)
c.209+15C= (n.209+15C=)
c.1238C= (p.Ser413=)
c.764+15C= (n.764+15C=)
22g.37084280G>TCA411424043TMPRSS6c.1196+15C>A (n.1196+15C>A)
c.1211C>A (p.Ser404Tyr)
c.1223+15C>A (n.1223+15C>A)
c.209+15C>A (n.209+15C>A)
c.1238C>A (p.Ser413Tyr)
c.764+15C>A (n.764+15C>A)
gnomAD v4
22g.37084281A>CCA411424046TMPRSS6c.1196+14T>G (n.1196+14T>G)
c.1210T>G (p.Ser404Ala)
c.1223+14T>G (n.1223+14T>G)
c.209+14T>G (n.209+14T>G)
c.1237T>G (p.Ser413Ala)
c.764+14T>G (n.764+14T>G)
22g.37084281A>GCA411424048TMPRSS6c.1196+14T>C (n.1196+14T>C)
c.1210T>C (p.Ser404Pro)
c.1223+14T>C (n.1223+14T>C)
c.209+14T>C (n.209+14T>C)
c.1237T>C (p.Ser413Pro)
c.764+14T>C (n.764+14T>C)
22g.37084281A>TCA411424049TMPRSS6c.1196+14T>A (n.1196+14T>A)
c.1210T>A (p.Ser404Thr)
c.1223+14T>A (n.1223+14T>A)
c.209+14T>A (n.209+14T>A)
c.1237T>A (p.Ser413Thr)
c.764+14T>A (n.764+14T>A)
22g.37084282G>ACA1025533256TMPRSS6c.1196+13C>T (n.1196+13C>T)
c.1209C>T (p.Leu403=)
c.1223+13C>T (n.1223+13C>T)
c.209+13C>T (n.209+13C>T)
c.1236C>T (p.Leu412=)
c.764+13C>T (n.764+13C>T)
dbSNP gnomAD v3 gnomAD v4
22g.37084282G=CA2404175847TMPRSS6c.1196+13C= (n.1196+13C=)
c.1209C= (p.Leu403=)
c.1223+13C= (n.1223+13C=)
c.209+13C= (n.209+13C=)
c.1236C= (p.Leu412=)
c.764+13C= (n.764+13C=)
22g.37084283A>CCA411424050TMPRSS6c.1196+12T>G (n.1196+12T>G)
c.1208T>G (p.Leu403Arg)
c.1223+12T>G (n.1223+12T>G)
c.209+12T>G (n.209+12T>G)
c.1235T>G (p.Leu412Arg)
c.764+12T>G (n.764+12T>G)
22g.37084283A>GCA411424052TMPRSS6c.1196+12T>C (n.1196+12T>C)
c.1208T>C (p.Leu403Pro)
c.1223+12T>C (n.1223+12T>C)
c.209+12T>C (n.209+12T>C)
c.1235T>C (p.Leu412Pro)
c.764+12T>C (n.764+12T>C)
22g.37084283A>TCA411424054TMPRSS6c.1196+12T>A (n.1196+12T>A)
c.1208T>A (p.Leu403His)
c.1223+12T>A (n.1223+12T>A)
c.209+12T>A (n.209+12T>A)
c.1235T>A (p.Leu412His)
c.764+12T>A (n.764+12T>A)
22g.37084284G>ACA10215740TMPRSS6c.1196+11C>T (n.1196+11C>T)
c.1207C>T (p.Leu403Phe)
c.1223+11C>T (n.1223+11C>T)
c.209+11C>T (n.209+11C>T)
c.1234C>T (p.Leu412Phe)
c.764+11C>T (n.764+11C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084284G>CCA411424057TMPRSS6c.1196+11C>G (n.1196+11C>G)
c.1207C>G (p.Leu403Val)
c.1223+11C>G (n.1223+11C>G)
c.209+11C>G (n.209+11C>G)
c.1234C>G (p.Leu412Val)
c.764+11C>G (n.764+11C>G)
dbSNP gnomAD v4
22g.37084284G=CA2404175848TMPRSS6c.1196+11C= (n.1196+11C=)
c.1207C= (p.Leu403=)
c.1223+11C= (n.1223+11C=)
c.209+11C= (n.209+11C=)
c.1234C= (p.Leu412=)
c.764+11C= (n.764+11C=)
22g.37084284G>TCA411424058TMPRSS6c.1196+11C>A (n.1196+11C>A)
c.1207C>A (p.Leu403Ile)
c.1223+11C>A (n.1223+11C>A)
c.209+11C>A (n.209+11C>A)
c.1234C>A (p.Leu412Ile)
c.764+11C>A (n.764+11C>A)
22g.37084285G>ACA10215742TMPRSS6c.1196+10C>T (n.1196+10C>T)
c.1206C>T (p.Phe402=)
c.1223+10C>T (n.1223+10C>T)
c.209+10C>T (n.209+10C>T)
c.1233C>T (p.Phe411=)
c.764+10C>T (n.764+10C>T)
dbSNP ExAC gnomAD v2
22g.37084285G>CCA10215741TMPRSS6c.1196+10C>G (n.1196+10C>G)
c.1206C>G (p.Phe402Leu)
c.1223+10C>G (n.1223+10C>G)
c.209+10C>G (n.209+10C>G)
c.1233C>G (p.Phe411Leu)
c.764+10C>G (n.764+10C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084285G=CA2404175849TMPRSS6c.1196+10C= (n.1196+10C=)
c.1206C= (p.Phe402=)
c.1223+10C= (n.1223+10C=)
c.209+10C= (n.209+10C=)
c.1233C= (p.Phe411=)
c.764+10C= (n.764+10C=)
22g.37084285G>TCA411424060TMPRSS6c.1196+10C>A (n.1196+10C>A)
c.1206C>A (p.Phe402Leu)
c.1223+10C>A (n.1223+10C>A)
c.209+10C>A (n.209+10C>A)
c.1233C>A (p.Phe411Leu)
c.764+10C>A (n.764+10C>A)
22g.37084286A>CCA411424066TMPRSS6c.1196+9T>G (n.1196+9T>G)
c.1205T>G (p.Phe402Cys)
c.1223+9T>G (n.1223+9T>G)
c.209+9T>G (n.209+9T>G)
c.1232T>G (p.Phe411Cys)
c.764+9T>G (n.764+9T>G)
22g.37084286A>GCA411424064TMPRSS6c.1196+9T>C (n.1196+9T>C)
c.1205T>C (p.Phe402Ser)
c.1223+9T>C (n.1223+9T>C)
c.209+9T>C (n.209+9T>C)
c.1232T>C (p.Phe411Ser)
c.764+9T>C (n.764+9T>C)
22g.37084286A>TCA411424062TMPRSS6c.1196+9T>A (n.1196+9T>A)
c.1205T>A (p.Phe402Tyr)
c.1223+9T>A (n.1223+9T>A)
c.209+9T>A (n.209+9T>A)
c.1232T>A (p.Phe411Tyr)
c.764+9T>A (n.764+9T>A)
22g.37084287A=CA2404175850TMPRSS6c.1196+8T= (n.1196+8T=)
c.1204T= (p.Phe402=)
c.1223+8T= (n.1223+8T=)
c.209+8T= (n.209+8T=)
c.1231T= (p.Phe411=)
c.764+8T= (n.764+8T=)
22g.37084287A>CCA411424067TMPRSS6c.1196+8T>G (n.1196+8T>G)
c.1204T>G (p.Phe402Val)
c.1223+8T>G (n.1223+8T>G)
c.209+8T>G (n.209+8T>G)
c.1231T>G (p.Phe411Val)
c.764+8T>G (n.764+8T>G)
22g.37084287A>GCA411424071TMPRSS6c.1196+8T>C (n.1196+8T>C)
c.1204T>C (p.Phe402Leu)
c.1223+8T>C (n.1223+8T>C)
c.209+8T>C (n.209+8T>C)
c.1231T>C (p.Phe411Leu)
c.764+8T>C (n.764+8T>C)
dbSNP
22g.37084287A>TCA411424069TMPRSS6c.1196+8T>A (n.1196+8T>A)
c.1204T>A (p.Phe402Ile)
c.1223+8T>A (n.1223+8T>A)
c.209+8T>A (n.209+8T>A)
c.1231T>A (p.Phe411Ile)
c.764+8T>A (n.764+8T>A)
22g.37084288G>ACA10215743TMPRSS6c.1196+7C>T (n.1196+7C>T)
c.1203C>T (p.His401=)
c.1223+7C>T (n.1223+7C>T)
c.209+7C>T (n.209+7C>T)
c.1230C>T (p.His410=)
c.764+7C>T (n.764+7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084288G>CCA411424074TMPRSS6c.1196+7C>G (n.1196+7C>G)
c.1203C>G (p.His401Gln)
c.1223+7C>G (n.1223+7C>G)
c.209+7C>G (n.209+7C>G)
c.1230C>G (p.His410Gln)
c.764+7C>G (n.764+7C>G)
22g.37084288G=CA2404175851TMPRSS6c.1196+7C= (n.1196+7C=)
c.1203C= (p.His401=)
c.1223+7C= (n.1223+7C=)
c.209+7C= (n.209+7C=)
c.1230C= (p.His410=)
c.764+7C= (n.764+7C=)
22g.37084288G>TCA411424076TMPRSS6c.1196+7C>A (n.1196+7C>A)
c.1203C>A (p.His401Gln)
c.1223+7C>A (n.1223+7C>A)
c.209+7C>A (n.209+7C>A)
c.1230C>A (p.His410Gln)
c.764+7C>A (n.764+7C>A)
22g.37084289T>ACA411424078TMPRSS6c.1196+6A>T (n.1196+6A>T)
c.1202A>T (p.His401Leu)
c.1223+6A>T (n.1223+6A>T)
c.209+6A>T (n.209+6A>T)
c.1229A>T (p.His410Leu)
c.764+6A>T (n.764+6A>T)
22g.37084289T>CCA411424079TMPRSS6c.1196+6A>G (n.1196+6A>G)
c.1202A>G (p.His401Arg)
c.1223+6A>G (n.1223+6A>G)
c.209+6A>G (n.209+6A>G)
c.1229A>G (p.His410Arg)
c.764+6A>G (n.764+6A>G)
22g.37084289T>GCA411424080TMPRSS6c.1196+6A>C (n.1196+6A>C)
c.1202A>C (p.His401Pro)
c.1223+6A>C (n.1223+6A>C)
c.209+6A>C (n.209+6A>C)
c.1229A>C (p.His410Pro)
c.764+6A>C (n.764+6A>C)
22g.37084290G>ACA411424082TMPRSS6c.1196+5C>T (n.1196+5C>T)
c.1201C>T (p.His401Tyr)
c.1223+5C>T (n.1223+5C>T)
c.209+5C>T (n.209+5C>T)
c.1228C>T (p.His410Tyr)
c.764+5C>T (n.764+5C>T)
gnomAD v4
22g.37084290G>CCA411424084TMPRSS6c.1196+5C>G (n.1196+5C>G)
c.1201C>G (p.His401Asp)
c.1223+5C>G (n.1223+5C>G)
c.209+5C>G (n.209+5C>G)
c.1228C>G (p.His410Asp)
c.764+5C>G (n.764+5C>G)
dbSNP gnomAD v3 gnomAD v4
22g.37084290G=CA2404175852TMPRSS6c.1196+5C= (n.1196+5C=)
c.1201C= (p.His401=)
c.1223+5C= (n.1223+5C=)
c.209+5C= (n.209+5C=)
c.1228C= (p.His410=)
c.764+5C= (n.764+5C=)
22g.37084290G>TCA10215744TMPRSS6c.1196+5C>A (n.1196+5C>A)
c.1201C>A (p.His401Asn)
c.1223+5C>A (n.1223+5C>A)
c.209+5C>A (n.209+5C>A)
c.1228C>A (p.His410Asn)
c.764+5C>A (n.764+5C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084291G>CCA411424087TMPRSS6c.1196+4C>G (n.1196+4C>G)
c.1200C>G (p.Tyr400Ter)
c.1223+4C>G (n.1223+4C>G)
c.209+4C>G (n.209+4C>G)
c.1227C>G (p.Tyr409Ter)
c.764+4C>G (n.764+4C>G)
22g.37084291G=CA2404175853TMPRSS6c.1196+4C= (n.1196+4C=)
c.1200C= (p.Tyr400=)
c.1223+4C= (n.1223+4C=)
c.209+4C= (n.209+4C=)
c.1227C= (p.Tyr409=)
c.764+4C= (n.764+4C=)
22g.37084291G>TCA411424088TMPRSS6c.1196+4C>A (n.1196+4C>A)
c.1200C>A (p.Tyr400Ter)
c.1223+4C>A (n.1223+4C>A)
c.209+4C>A (n.209+4C>A)
c.1227C>A (p.Tyr409Ter)
c.764+4C>A (n.764+4C>A)
dbSNP gnomAD v2 gnomAD v4
22g.37084292T>ACA411424091TMPRSS6c.1196+3A>T (n.1196+3A>T)
c.1199A>T (p.Tyr400Phe)
c.1223+3A>T (n.1223+3A>T)
c.209+3A>T (n.209+3A>T)
c.1226A>T (p.Tyr409Phe)
c.764+3A>T (n.764+3A>T)
22g.37084292T>CCA324060116TMPRSS6c.1196+3A>G (n.1196+3A>G)
c.1199A>G (p.Tyr400Cys)
c.1223+3A>G (n.1223+3A>G)
c.209+3A>G (n.209+3A>G)
c.1226A>G (p.Tyr409Cys)
c.764+3A>G (n.764+3A>G)
dbSNP gnomAD v3 gnomAD v4
22g.37084292T>GCA411424090TMPRSS6c.1196+3A>C (n.1196+3A>C)
c.1199A>C (p.Tyr400Ser)
c.1223+3A>C (n.1223+3A>C)
c.209+3A>C (n.209+3A>C)
c.1226A>C (p.Tyr409Ser)
c.764+3A>C (n.764+3A>C)
22g.37084292T=CA2404175854TMPRSS6c.1196+3A= (n.1196+3A=)
c.1199A= (p.Tyr400=)
c.1223+3A= (n.1223+3A=)
c.209+3A= (n.209+3A=)
c.1226A= (p.Tyr409=)
c.764+3A= (n.764+3A=)
22g.37084293A=CA2404175855TMPRSS6c.1196+2T= (n.1196+2T=)
c.1198T= (p.Tyr400=)
c.1223+2T= (n.1223+2T=)
c.209+2T= (n.209+2T=)
c.1225T= (p.Tyr409=)
c.764+2T= (n.764+2T=)
22g.37084293A>CCA411424092TMPRSS6c.1196+2T>G (n.1196+2T>G)
c.1198T>G (p.Tyr400Asp)
c.1223+2T>G (n.1223+2T>G)
c.209+2T>G (n.209+2T>G)
c.1225T>G (p.Tyr409Asp)
c.764+2T>G (n.764+2T>G)
dbSNP
22g.37084293A>GCA411424093TMPRSS6c.1196+2T>C (n.1196+2T>C)
c.1198T>C (p.Tyr400His)
c.1223+2T>C (n.1223+2T>C)
c.209+2T>C (n.209+2T>C)
c.1225T>C (p.Tyr409His)
c.764+2T>C (n.764+2T>C)
22g.37084293A>TCA411424095TMPRSS6c.1196+2T>A (n.1196+2T>A)
c.1198T>A (p.Tyr400Asn)
c.1223+2T>A (n.1223+2T>A)
c.209+2T>A (n.209+2T>A)
c.1225T>A (p.Tyr409Asn)
c.764+2T>A (n.764+2T>A)
22g.37084294C>ACA411424097TMPRSS6c.1196+1G>T (n.1196+1G>T)
c.1197G>T (p.Arg399Ser)
c.1223+1G>T (n.1223+1G>T)
c.209+1G>T (n.209+1G>T)
c.1224G>T (p.Arg408Ser)
c.764+1G>T (n.764+1G>T)
22g.37084294C>GCA411424098TMPRSS6c.1196+1G>C (n.1196+1G>C)
c.1197G>C (p.Arg399Ser)
c.1223+1G>C (n.1223+1G>C)
c.209+1G>C (n.209+1G>C)
c.1224G>C (p.Arg408Ser)
c.764+1G>C (n.764+1G>C)
22g.37084294C>TCA411424100TMPRSS6c.1196+1G>A (n.1196+1G>A)
c.1197G>A (p.Arg399=)
c.1223+1G>A (n.1223+1G>A)
c.209+1G>A (n.209+1G>A)
c.1224G>A (p.Arg408=)
c.764+1G>A (n.764+1G>A)
22g.37084295C>ACA411424102TMPRSS6c.1196G>T (p.Arg399Met)
c.1223G>T (p.Arg408Met)
c.209G>T (p.Arg70Ile)
c.764G>T (p.Arg255Met)
22g.37084295C=CA2404175856TMPRSS6c.1196G= (p.Arg399=)
c.1223G= (p.Arg408=)
c.209G= (p.Arg70=)
c.764G= (p.Arg255=)
22g.37084295C>GCA411424104TMPRSS6c.1196G>C (p.Arg399Thr)
c.1223G>C (p.Arg408Thr)
c.209G>C (p.Arg70Thr)
c.764G>C (p.Arg255Thr)
22g.37084295C>TCA411424106TMPRSS6c.1196G>A (p.Arg399Lys)
c.1223G>A (p.Arg408Lys)
c.209G>A (p.Arg70Lys)
c.764G>A (p.Arg255Lys)
dbSNP
22g.37084296T>ACA411424108TMPRSS6c.1195A>T (p.Arg399Trp)
c.1222A>T (p.Arg408Trp)
c.208A>T (p.Arg70Ter)
c.763A>T (p.Arg255Trp)
22g.37084296T>CCA411424109TMPRSS6c.1195A>G (p.Arg399Gly)
c.1222A>G (p.Arg408Gly)
c.208A>G (p.Arg70Gly)
c.763A>G (p.Arg255Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37084296T>GCA514485168TMPRSS6c.1195A>C (p.Arg399=)
c.1222A>C (p.Arg408=)
c.208A>C (p.Arg70=)
c.763A>C (p.Arg255=)
22g.37084296T=CA2404175857TMPRSS6c.1195A= (p.Arg399=)
c.1222A= (p.Arg408=)
c.208A= (p.Arg70=)
c.763A= (p.Arg255=)
22g.37084297C>ACA10215745TMPRSS6c.1194G>T (p.Arg398Ser)
c.1221G>T (p.Arg407Ser)
c.207G>T (p.Arg69Ser)
c.762G>T (p.Arg254Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084297C=CA2404175858TMPRSS6c.1194G= (p.Arg398=)
c.1221G= (p.Arg407=)
c.207G= (p.Arg69=)
c.762G= (p.Arg254=)
22g.37084297C>GCA411424111TMPRSS6c.1194G>C (p.Arg398Ser)
c.1221G>C (p.Arg407Ser)
c.207G>C (p.Arg69Ser)
c.762G>C (p.Arg254Ser)
22g.37084297C>TCA514485186TMPRSS6c.1194G>A (p.Arg398=)
c.1221G>A (p.Arg407=)
c.207G>A (p.Arg69=)
c.762G>A (p.Arg254=)
22g.37084298C>ACA411424114TMPRSS6c.1193G>T (p.Arg398Met)
c.1220G>T (p.Arg407Met)
c.206G>T (p.Arg69Met)
c.761G>T (p.Arg254Met)
22g.37084298C>GCA411424116TMPRSS6c.1193G>C (p.Arg398Thr)
c.1220G>C (p.Arg407Thr)
c.206G>C (p.Arg69Thr)
c.761G>C (p.Arg254Thr)
22g.37084298C>TCA411424117TMPRSS6c.1193G>A (p.Arg398Lys)
c.1220G>A (p.Arg407Lys)
c.206G>A (p.Arg69Lys)
c.761G>A (p.Arg254Lys)
22g.37084299T>ACA411424120TMPRSS6c.1192A>T (p.Arg398Trp)
c.1219A>T (p.Arg407Trp)
c.205A>T (p.Arg69Trp)
c.760A>T (p.Arg254Trp)
22g.37084299T>CCA411424121TMPRSS6c.1192A>G (p.Arg398Gly)
c.1219A>G (p.Arg407Gly)
c.205A>G (p.Arg69Gly)
c.760A>G (p.Arg254Gly)
22g.37084299T>GCA514485199TMPRSS6c.1192A>C (p.Arg398=)
c.1219A>C (p.Arg407=)
c.205A>C (p.Arg69=)
c.760A>C (p.Arg254=)
dbSNP gnomAD v2 gnomAD v4
22g.37084299T=CA2404175859TMPRSS6c.1192A= (p.Arg398=)
c.1219A= (p.Arg407=)
c.205A= (p.Arg69=)
c.760A= (p.Arg254=)
22g.37084300G>ACA324060122TMPRSS6c.1191C>T (p.Asn397=)
c.1218C>T (p.Asn406=)
c.204C>T (p.Asn68=)
c.759C>T (p.Asn253=)
dbSNP
22g.37084300G>CCA411424123TMPRSS6c.1191C>G (p.Asn397Lys)
c.1218C>G (p.Asn406Lys)
c.204C>G (p.Asn68Lys)
c.759C>G (p.Asn253Lys)
22g.37084300G=CA2404175860TMPRSS6c.1191C= (p.Asn397=)
c.1218C= (p.Asn406=)
c.204C= (p.Asn68=)
c.759C= (p.Asn253=)
22g.37084300G>TCA411424125TMPRSS6c.1191C>A (p.Asn397Lys)
c.1218C>A (p.Asn406Lys)
c.204C>A (p.Asn68Lys)
c.759C>A (p.Asn253Lys)
22g.37084301T>ACA411424128TMPRSS6c.1190A>T (p.Asn397Ile)
c.1217A>T (p.Asn406Ile)
c.203A>T (p.Asn68Ile)
c.758A>T (p.Asn253Ile)
22g.37084301T>CCA411424129TMPRSS6c.1190A>G (p.Asn397Ser)
c.1217A>G (p.Asn406Ser)
c.203A>G (p.Asn68Ser)
c.758A>G (p.Asn253Ser)
dbSNP
22g.37084301T>GCA411424130TMPRSS6c.1190A>C (p.Asn397Thr)
c.1217A>C (p.Asn406Thr)
c.203A>C (p.Asn68Thr)
c.758A>C (p.Asn253Thr)
22g.37084301T=CA2404175861TMPRSS6c.1190A= (p.Asn397=)
c.1217A= (p.Asn406=)
c.203A= (p.Asn68=)
c.758A= (p.Asn253=)
22g.37084302T>ACA411424132TMPRSS6c.1189A>T (p.Asn397Tyr)
c.1216A>T (p.Asn406Tyr)
c.202A>T (p.Asn68Tyr)
c.757A>T (p.Asn253Tyr)
22g.37084302T>CCA411424133TMPRSS6c.1189A>G (p.Asn397Asp)
c.1216A>G (p.Asn406Asp)
c.202A>G (p.Asn68Asp)
c.757A>G (p.Asn253Asp)
gnomAD v4
22g.37084302T>GCA411424135TMPRSS6c.1189A>C (p.Asn397His)
c.1216A>C (p.Asn406His)
c.202A>C (p.Asn68His)
c.757A>C (p.Asn253His)
22g.37084303C>ACA411424139TMPRSS6c.1188G>T (p.Gln396His)
c.1215G>T (p.Gln405His)
c.201G>T (p.Gln67His)
c.756G>T (p.Gln252His)
22g.37084303C>GCA411424137TMPRSS6c.1188G>C (p.Gln396His)
c.1215G>C (p.Gln405His)
c.201G>C (p.Gln67His)
c.756G>C (p.Gln252His)
gnomAD v4
22g.37084303C>TCA514485252TMPRSS6c.1188G>A (p.Gln396=)
c.1215G>A (p.Gln405=)
c.201G>A (p.Gln67=)
c.756G>A (p.Gln252=)
COSMIC COSMIC COSMIC
22g.37084304T>ACA411424141TMPRSS6c.1187A>T (p.Gln396Leu)
c.1214A>T (p.Gln405Leu)
c.200A>T (p.Gln67Leu)
c.755A>T (p.Gln252Leu)
22g.37084304T>CCA411424143TMPRSS6c.1187A>G (p.Gln396Arg)
c.1214A>G (p.Gln405Arg)
c.200A>G (p.Gln67Arg)
c.755A>G (p.Gln252Arg)
22g.37084304T>GCA411424144TMPRSS6c.1187A>C (p.Gln396Pro)
c.1214A>C (p.Gln405Pro)
c.200A>C (p.Gln67Pro)
c.755A>C (p.Gln252Pro)
22g.37084305G>ACA411424146TMPRSS6c.1186C>T (p.Gln396Ter)
c.1213C>T (p.Gln405Ter)
c.199C>T (p.Gln67Ter)
c.754C>T (p.Gln252Ter)
22g.37084305G>CCA411424148TMPRSS6c.1186C>G (p.Gln396Glu)
c.1213C>G (p.Gln405Glu)
c.199C>G (p.Gln67Glu)
c.754C>G (p.Gln252Glu)
22g.37084305G>TCA411424150TMPRSS6c.1186C>A (p.Gln396Lys)
c.1213C>A (p.Gln405Lys)
c.199C>A (p.Gln67Lys)
c.754C>A (p.Gln252Lys)
22g.37084306G>ACA514485271TMPRSS6c.1185C>T (p.Ile395=)
c.1212C>T (p.Ile404=)
c.198C>T (p.Ile66=)
c.753C>T (p.Ile251=)
gnomAD v4
22g.37084306G>CCA411424152TMPRSS6c.1185C>G (p.Ile395Met)
c.1212C>G (p.Ile404Met)
c.198C>G (p.Ile66Met)
c.753C>G (p.Ile251Met)
22g.37084306G>TCA514485276TMPRSS6c.1185C>A (p.Ile395=)
c.1212C>A (p.Ile404=)
c.198C>A (p.Ile66=)
c.753C>A (p.Ile251=)
22g.37084307A>CCA411424154TMPRSS6c.1184T>G (p.Ile395Ser)
c.1211T>G (p.Ile404Ser)
c.197T>G (p.Ile66Ser)
c.752T>G (p.Ile251Ser)
22g.37084307A>GCA411424155TMPRSS6c.1184T>C (p.Ile395Thr)
c.1211T>C (p.Ile404Thr)
c.197T>C (p.Ile66Thr)
c.752T>C (p.Ile251Thr)
22g.37084307A>TCA411424156TMPRSS6c.1184T>A (p.Ile395Asn)
c.1211T>A (p.Ile404Asn)
c.197T>A (p.Ile66Asn)
c.752T>A (p.Ile251Asn)
22g.37084308T>ACA411424158TMPRSS6c.1183A>T (p.Ile395Phe)
c.1210A>T (p.Ile404Phe)
c.196A>T (p.Ile66Phe)
c.751A>T (p.Ile251Phe)
22g.37084308T>CCA10215746TMPRSS6c.1183A>G (p.Ile395Val)
c.1210A>G (p.Ile404Val)
c.196A>G (p.Ile66Val)
c.751A>G (p.Ile251Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084308T>GCA411424161TMPRSS6c.1183A>C (p.Ile395Leu)
c.1210A>C (p.Ile404Leu)
c.196A>C (p.Ile66Leu)
c.751A>C (p.Ile251Leu)
22g.37084308T=CA2404175862TMPRSS6c.1183A= (p.Ile395=)
c.1210A= (p.Ile404=)
c.196A= (p.Ile66=)
c.751A= (p.Ile251=)
22g.37084309C>ACA514485293TMPRSS6c.1182G>T (p.Thr394=)
c.1209G>T (p.Thr403=)
c.195G>T (p.Thr65=)
c.750G>T (p.Thr250=)
22g.37084309C=CA2404175863TMPRSS6c.1182G= (p.Thr394=)
c.1209G= (p.Thr403=)
c.195G= (p.Thr65=)
c.750G= (p.Thr250=)
22g.37084309C>GCA514485296TMPRSS6c.1182G>C (p.Thr394=)
c.1209G>C (p.Thr403=)
c.195G>C (p.Thr65=)
c.750G>C (p.Thr250=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37084309C>TCA10215747TMPRSS6c.1182G>A (p.Thr394=)
c.1209G>A (p.Thr403=)
c.195G>A (p.Thr65=)
c.750G>A (p.Thr250=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084310G>ACA10215748TMPRSS6c.1181C>T (p.Thr394Met)
c.1208C>T (p.Thr403Met)
c.194C>T (p.Thr65Met)
c.749C>T (p.Thr250Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084310G>CCA411424166TMPRSS6c.1181C>G (p.Thr394Arg)
c.1208C>G (p.Thr403Arg)
c.194C>G (p.Thr65Arg)
c.749C>G (p.Thr250Arg)
gnomAD v4
22g.37084310G=CA2404175864TMPRSS6c.1181C= (p.Thr394=)
c.1208C= (p.Thr403=)
c.194C= (p.Thr65=)
c.749C= (p.Thr250=)
22g.37084310G>TCA411424164TMPRSS6c.1181C>A (p.Thr394Lys)
c.1208C>A (p.Thr403Lys)
c.194C>A (p.Thr65Lys)
c.749C>A (p.Thr250Lys)
22g.37084311T>ACA411424175TMPRSS6c.1180A>T (p.Thr394Ser)
c.1207A>T (p.Thr403Ser)
c.193A>T (p.Thr65Ser)
c.748A>T (p.Thr250Ser)
gnomAD v4
22g.37084311T>CCA411424168TMPRSS6c.1180A>G (p.Thr394Ala)
c.1207A>G (p.Thr403Ala)
c.193A>G (p.Thr65Ala)
c.748A>G (p.Thr250Ala)
gnomAD v4
22g.37084311T>GCA411424174TMPRSS6c.1180A>C (p.Thr394Pro)
c.1207A>C (p.Thr403Pro)
c.193A>C (p.Thr65Pro)
c.748A>C (p.Thr250Pro)
22g.37084312C>ACA411424177TMPRSS6c.1179G>T (p.Trp393Cys)
c.1206G>T (p.Trp402Cys)
c.192G>T (p.Trp64Cys)
c.747G>T (p.Trp249Cys)
22g.37084312C=CA2404175865TMPRSS6c.1179G= (p.Trp393=)
c.1206G= (p.Trp402=)
c.192G= (p.Trp64=)
c.747G= (p.Trp249=)
22g.37084312C>GCA411424179TMPRSS6c.1179G>C (p.Trp393Cys)
c.1206G>C (p.Trp402Cys)
c.192G>C (p.Trp64Cys)
c.747G>C (p.Trp249Cys)
22g.37084312C>TCA411424180TMPRSS6c.1179G>A (p.Trp393Ter)
c.1206G>A (p.Trp402Ter)
c.192G>A (p.Trp64Ter)
c.747G>A (p.Trp249Ter)
dbSNP gnomAD v2
22g.37084313C>ACA324060139TMPRSS6c.1178G>T (p.Trp393Leu)
c.1205G>T (p.Trp402Leu)
c.191G>T (p.Trp64Leu)
c.746G>T (p.Trp249Leu)
dbSNP gnomAD v2 gnomAD v4
22g.37084313C=CA2404175866TMPRSS6c.1178G= (p.Trp393=)
c.1205G= (p.Trp402=)
c.191G= (p.Trp64=)
c.746G= (p.Trp249=)
22g.37084313C>GCA411424183TMPRSS6c.1178G>C (p.Trp393Ser)
c.1205G>C (p.Trp402Ser)
c.191G>C (p.Trp64Ser)
c.746G>C (p.Trp249Ser)
22g.37084313C>TCA411424184TMPRSS6c.1178G>A (p.Trp393Ter)
c.1205G>A (p.Trp402Ter)
c.191G>A (p.Trp64Ter)
c.746G>A (p.Trp249Ter)
22g.37084314A>CCA411424186TMPRSS6c.1177T>G (p.Trp393Gly)
c.1204T>G (p.Trp402Gly)
c.190T>G (p.Trp64Gly)
c.745T>G (p.Trp249Gly)
22g.37084314A>GCA411424188TMPRSS6c.1177T>C (p.Trp393Arg)
c.1204T>C (p.Trp402Arg)
c.190T>C (p.Trp64Arg)
c.745T>C (p.Trp249Arg)
22g.37084314A>TCA411424189TMPRSS6c.1177T>A (p.Trp393Arg)
c.1204T>A (p.Trp402Arg)
c.190T>A (p.Trp64Arg)
c.745T>A (p.Trp249Arg)
22g.37084315C>ACA411424191TMPRSS6c.1176G>T (p.Gln392His)
c.1203G>T (p.Gln401His)
c.189G>T (p.Gln63His)
c.744G>T (p.Gln248His)
22g.37084315C>GCA411424192TMPRSS6c.1176G>C (p.Gln392His)
c.1203G>C (p.Gln401His)
c.189G>C (p.Gln63His)
c.744G>C (p.Gln248His)
22g.37084315C>TCA514485335TMPRSS6c.1176G>A (p.Gln392=)
c.1203G>A (p.Gln401=)
c.189G>A (p.Gln63=)
c.744G>A (p.Gln248=)
22g.37084316T>ACA411424196TMPRSS6c.1175A>T (p.Gln392Leu)
c.1202A>T (p.Gln401Leu)
c.188A>T (p.Gln63Leu)
c.743A>T (p.Gln248Leu)
22g.37084316T>CCA411424194TMPRSS6c.1175A>G (p.Gln392Arg)
c.1202A>G (p.Gln401Arg)
c.188A>G (p.Gln63Arg)
c.743A>G (p.Gln248Arg)
22g.37084316T>GCA411424193TMPRSS6c.1175A>C (p.Gln392Pro)
c.1202A>C (p.Gln401Pro)
c.188A>C (p.Gln63Pro)
c.743A>C (p.Gln248Pro)
22g.37084317G>ACA411424198TMPRSS6c.1174C>T (p.Gln392Ter)
c.1201C>T (p.Gln401Ter)
c.187C>T (p.Gln63Ter)
c.742C>T (p.Gln248Ter)
dbSNP gnomAD v2 gnomAD v4
22g.37084317G>CCA411424199TMPRSS6c.1174C>G (p.Gln392Glu)
c.1201C>G (p.Gln401Glu)
c.187C>G (p.Gln63Glu)
c.742C>G (p.Gln248Glu)
22g.37084317G=CA2404175867TMPRSS6c.1174C= (p.Gln392=)
c.1201C= (p.Gln401=)
c.187C= (p.Gln63=)
c.742C= (p.Gln248=)
22g.37084317G>TCA411424201TMPRSS6c.1174C>A (p.Gln392Lys)
c.1201C>A (p.Gln401Lys)
c.187C>A (p.Gln63Lys)
c.742C>A (p.Gln248Lys)
22g.37084318G>ACA514485369TMPRSS6c.1173C>T (p.Gly391=)
c.1200C>T (p.Gly400=)
c.186C>T (p.Gly62=)
c.741C>T (p.Gly247=)
gnomAD v4
22g.37084318G>CCA514485366TMPRSS6c.1173C>G (p.Gly391=)
c.1200C>G (p.Gly400=)
c.186C>G (p.Gly62=)
c.741C>G (p.Gly247=)
22g.37084318G>TCA514485362TMPRSS6c.1173C>A (p.Gly391=)
c.1200C>A (p.Gly400=)
c.186C>A (p.Gly62=)
c.741C>A (p.Gly247=)
22g.37084319C>ACA411424203TMPRSS6c.1172G>T (p.Gly391Val)
c.1199G>T (p.Gly400Val)
c.185G>T (p.Gly62Val)
c.740G>T (p.Gly247Val)
22g.37084319C>GCA411424204TMPRSS6c.1172G>C (p.Gly391Ala)
c.1199G>C (p.Gly400Ala)
c.185G>C (p.Gly62Ala)
c.740G>C (p.Gly247Ala)
22g.37084319C>TCA411424206TMPRSS6c.1172G>A (p.Gly391Asp)
c.1199G>A (p.Gly400Asp)
c.185G>A (p.Gly62Asp)
c.740G>A (p.Gly247Asp)
22g.37084320C>ACA411424209TMPRSS6c.1171G>T (p.Gly391Cys)
c.1198G>T (p.Gly400Cys)
c.184G>T (p.Gly62Cys)
c.739G>T (p.Gly247Cys)
22g.37084320C>GCA411424211TMPRSS6c.1171G>C (p.Gly391Arg)
c.1198G>C (p.Gly400Arg)
c.184G>C (p.Gly62Arg)
c.739G>C (p.Gly247Arg)
22g.37084320C>TCA411424213TMPRSS6c.1171G>A (p.Gly391Ser)
c.1198G>A (p.Gly400Ser)
c.184G>A (p.Gly62Ser)
c.739G>A (p.Gly247Ser)
22g.37084321C>ACA411424215TMPRSS6c.1170G>T (p.Gln390His)
c.1197G>T (p.Gln399His)
c.183G>T (p.Gln61His)
c.738G>T (p.Gln246His)
22g.37084321C>GCA411424216TMPRSS6c.1170G>C (p.Gln390His)
c.1197G>C (p.Gln399His)
c.183G>C (p.Gln61His)
c.738G>C (p.Gln246His)
22g.37084321C>TCA514485375TMPRSS6c.1170G>A (p.Gln390=)
c.1197G>A (p.Gln399=)
c.183G>A (p.Gln61=)
c.738G>A (p.Gln246=)
22g.37084322T>ACA411424219TMPRSS6c.1169A>T (p.Gln390Leu)
c.1196A>T (p.Gln399Leu)
c.182A>T (p.Gln61Leu)
c.737A>T (p.Gln246Leu)
22g.37084322T>CCA411424220TMPRSS6c.1169A>G (p.Gln390Arg)
c.1196A>G (p.Gln399Arg)
c.182A>G (p.Gln61Arg)
c.737A>G (p.Gln246Arg)
22g.37084322T>GCA411424222TMPRSS6c.1169A>C (p.Gln390Pro)
c.1196A>C (p.Gln399Pro)
c.182A>C (p.Gln61Pro)
c.737A>C (p.Gln246Pro)
22g.37084323G>ACA411424226TMPRSS6c.1168C>T (p.Gln390Ter)
c.1195C>T (p.Gln399Ter)
c.181C>T (p.Gln61Ter)
c.736C>T (p.Gln246Ter)
gnomAD v4
22g.37084323G>CCA411424227TMPRSS6c.1168C>G (p.Gln390Glu)
c.1195C>G (p.Gln399Glu)
c.181C>G (p.Gln61Glu)
c.736C>G (p.Gln246Glu)
22g.37084323G>TCA411424224TMPRSS6c.1168C>A (p.Gln390Lys)
c.1195C>A (p.Gln399Lys)
c.181C>A (p.Gln61Lys)
c.736C>A (p.Gln246Lys)
22g.37084324G>ACA10215749TMPRSS6c.1167C>T (p.Thr389=)
c.1194C>T (p.Thr398=)
c.180C>T (p.Thr60=)
c.735C>T (p.Thr245=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084324G>CCA514485400TMPRSS6c.1167C>G (p.Thr389=)
c.1194C>G (p.Thr398=)
c.180C>G (p.Thr60=)
c.735C>G (p.Thr245=)
dbSNP
22g.37084324G=CA2404175868TMPRSS6c.1167C= (p.Thr389=)
c.1194C= (p.Thr398=)
c.180C= (p.Thr60=)
c.735C= (p.Thr245=)
22g.37084324G>TCA514485393TMPRSS6c.1167C>A (p.Thr389=)
c.1194C>A (p.Thr398=)
c.180C>A (p.Thr60=)
c.735C>A (p.Thr245=)
22g.37084325G>ACA324060162TMPRSS6c.1166C>T (p.Thr389Ile)
c.1193C>T (p.Thr398Ile)
c.179C>T (p.Thr60Ile)
c.734C>T (p.Thr245Ile)
dbSNP
22g.37084325G>CCA411424231TMPRSS6c.1166C>G (p.Thr389Ser)
c.1193C>G (p.Thr398Ser)
c.179C>G (p.Thr60Ser)
c.734C>G (p.Thr245Ser)
22g.37084325G=CA2404175869TMPRSS6c.1166C= (p.Thr389=)
c.1193C= (p.Thr398=)
c.179C= (p.Thr60=)
c.734C= (p.Thr245=)
22g.37084325G>TCA411424232TMPRSS6c.1166C>A (p.Thr389Asn)
c.1193C>A (p.Thr398Asn)
c.179C>A (p.Thr60Asn)
c.734C>A (p.Thr245Asn)
gnomAD v4
22g.37084326T>ACA411424234TMPRSS6c.1165A>T (p.Thr389Ser)
c.1192A>T (p.Thr398Ser)
c.178A>T (p.Thr60Ser)
c.733A>T (p.Thr245Ser)
22g.37084326T>CCA411424236TMPRSS6c.1165A>G (p.Thr389Ala)
c.1192A>G (p.Thr398Ala)
c.178A>G (p.Thr60Ala)
c.733A>G (p.Thr245Ala)
dbSNP gnomAD v3 gnomAD v4
22g.37084326T>GCA411424238TMPRSS6c.1165A>C (p.Thr389Pro)
c.1192A>C (p.Thr398Pro)
c.178A>C (p.Thr60Pro)
c.733A>C (p.Thr245Pro)
22g.37084326T=CA2404175870TMPRSS6c.1165A= (p.Thr389=)
c.1192A= (p.Thr398=)
c.178A= (p.Thr60=)
c.733A= (p.Thr245=)
22g.37084327G>ACA514485405TMPRSS6c.1164C>T (p.Cys388=)
c.1191C>T (p.Cys397=)
c.177C>T (p.Cys59=)
c.732C>T (p.Cys244=)
dbSNP
22g.37084327G>CCA411424241TMPRSS6c.1164C>G (p.Cys388Trp)
c.1191C>G (p.Cys397Trp)
c.177C>G (p.Cys59Trp)
c.732C>G (p.Cys244Trp)
22g.37084327G=CA2404175871TMPRSS6c.1164C= (p.Cys388=)
c.1191C= (p.Cys397=)
c.177C= (p.Cys59=)
c.732C= (p.Cys244=)
22g.37084327G>TCA411424242TMPRSS6c.1164C>A (p.Cys388Ter)
c.1191C>A (p.Cys397Ter)
c.177C>A (p.Cys59Ter)
c.732C>A (p.Cys244Ter)
22g.37084328C>ACA411424244TMPRSS6c.1163G>T (p.Cys388Phe)
c.1190G>T (p.Cys397Phe)
c.176G>T (p.Cys59Phe)
c.731G>T (p.Cys244Phe)
22g.37084328C=CA2404175872TMPRSS6c.1163G= (p.Cys388=)
c.1190G= (p.Cys397=)
c.176G= (p.Cys59=)
c.731G= (p.Cys244=)
22g.37084328C>GCA411424245TMPRSS6c.1163G>C (p.Cys388Ser)
c.1190G>C (p.Cys397Ser)
c.176G>C (p.Cys59Ser)
c.731G>C (p.Cys244Ser)
22g.37084328C>TCA324060167TMPRSS6c.1163G>A (p.Cys388Tyr)
c.1190G>A (p.Cys397Tyr)
c.176G>A (p.Cys59Tyr)
c.731G>A (p.Cys244Tyr)
dbSNP gnomAD v3 gnomAD v4
22g.37084329A>CCA411424252TMPRSS6c.1162T>G (p.Cys388Gly)
c.1189T>G (p.Cys397Gly)
c.175T>G (p.Cys59Gly)
c.730T>G (p.Cys244Gly)
22g.37084329A>GCA411424250TMPRSS6c.1162T>C (p.Cys388Arg)
c.1189T>C (p.Cys397Arg)
c.175T>C (p.Cys59Arg)
c.730T>C (p.Cys244Arg)
gnomAD v4
22g.37084329A>TCA411424248TMPRSS6c.1162T>A (p.Cys388Ser)
c.1189T>A (p.Cys397Ser)
c.175T>A (p.Cys59Ser)
c.730T>A (p.Cys244Ser)
22g.37084330C>ACA514485430TMPRSS6c.1161G>T (p.Pro387=)
c.1188G>T (p.Pro396=)
c.174G>T (p.Pro58=)
c.729G>T (p.Pro243=)
gnomAD v4
22g.37084330C=CA2404175873TMPRSS6c.1161G= (p.Pro387=)
c.1188G= (p.Pro396=)
c.174G= (p.Pro58=)
c.729G= (p.Pro243=)
22g.37084330C>GCA514485432TMPRSS6c.1161G>C (p.Pro387=)
c.1188G>C (p.Pro396=)
c.174G>C (p.Pro58=)
c.729G>C (p.Pro243=)
22g.37084330C>TCA10215750TMPRSS6c.1161G>A (p.Pro387=)
c.1188G>A (p.Pro396=)
c.174G>A (p.Pro58=)
c.729G>A (p.Pro243=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084331G>ACA10215751TMPRSS6c.1160C>T (p.Pro387Leu)
c.1187C>T (p.Pro396Leu)
c.173C>T (p.Pro58Leu)
c.728C>T (p.Pro243Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084331G>CCA411424256TMPRSS6c.1160C>G (p.Pro387Arg)
c.1187C>G (p.Pro396Arg)
c.173C>G (p.Pro58Arg)
c.728C>G (p.Pro243Arg)
gnomAD v4
22g.37084331G=CA2404175874TMPRSS6c.1160C= (p.Pro387=)
c.1187C= (p.Pro396=)
c.173C= (p.Pro58=)
c.728C= (p.Pro243=)
22g.37084331G>TCA411424258TMPRSS6c.1160C>A (p.Pro387Gln)
c.1187C>A (p.Pro396Gln)
c.173C>A (p.Pro58Gln)
c.728C>A (p.Pro243Gln)
gnomAD v4
22g.37084332G>ACA411424260TMPRSS6c.1159C>T (p.Pro387Ser)
c.1186C>T (p.Pro396Ser)
c.172C>T (p.Pro58Ser)
c.727C>T (p.Pro243Ser)
gnomAD v4
22g.37084332G>CCA411424261TMPRSS6c.1159C>G (p.Pro387Ala)
c.1186C>G (p.Pro396Ala)
c.172C>G (p.Pro58Ala)
c.727C>G (p.Pro243Ala)
22g.37084332G>TCA411424263TMPRSS6c.1159C>A (p.Pro387Thr)
c.1186C>A (p.Pro396Thr)
c.172C>A (p.Pro58Thr)
c.727C>A (p.Pro243Thr)
22g.37084333C>ACA411424265TMPRSS6c.1158G>T (p.Leu386Phe)
c.1185G>T (p.Leu395Phe)
c.171G>T (p.Leu57Phe)
c.726G>T (p.Leu242Phe)
22g.37084333C>GCA411424267TMPRSS6c.1158G>C (p.Leu386Phe)
c.1185G>C (p.Leu395Phe)
c.171G>C (p.Leu57Phe)
c.726G>C (p.Leu242Phe)
22g.37084333C>TCA514485458TMPRSS6c.1158G>A (p.Leu386=)
c.1185G>A (p.Leu395=)
c.171G>A (p.Leu57=)
c.726G>A (p.Leu242=)
22g.37084334A>CCA411424269TMPRSS6c.1157T>G (p.Leu386Trp)
c.1184T>G (p.Leu395Trp)
c.170T>G (p.Leu57Trp)
c.725T>G (p.Leu242Trp)
22g.37084334A>GCA411424270TMPRSS6c.1157T>C (p.Leu386Ser)
c.1184T>C (p.Leu395Ser)
c.170T>C (p.Leu57Ser)
c.725T>C (p.Leu242Ser)
22g.37084334A>TCA411424272TMPRSS6c.1157T>A (p.Leu386Ter)
c.1184T>A (p.Leu395Ter)
c.170T>A (p.Leu57Ter)
c.725T>A (p.Leu242Ter)
22g.37084335A=CA2404175875TMPRSS6c.1156T= (p.Leu386=)
c.1183T= (p.Leu395=)
c.169T= (p.Leu57=)
c.724T= (p.Leu242=)
22g.37084335A>CCA411424275TMPRSS6c.1156T>G (p.Leu386Val)
c.1183T>G (p.Leu395Val)
c.169T>G (p.Leu57Val)
c.724T>G (p.Leu242Val)
22g.37084335A>GCA10215752TMPRSS6c.1156T>C (p.Leu386=)
c.1183T>C (p.Leu395=)
c.169T>C (p.Leu57=)
c.724T>C (p.Leu242=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084335A>TCA411424274TMPRSS6c.1156T>A (p.Leu386Met)
c.1183T>A (p.Leu395Met)
c.169T>A (p.Leu57Met)
c.724T>A (p.Leu242Met)
gnomAD v4
22g.37084336A=CA2404175876TMPRSS6c.1155T= (p.Asp385=)
c.1182T= (p.Asp394=)
c.168T= (p.Asp56=)
c.723T= (p.Asp241=)
22g.37084336A>CCA411424277TMPRSS6c.1155T>G (p.Asp385Glu)
c.1182T>G (p.Asp394Glu)
c.168T>G (p.Asp56Glu)
c.723T>G (p.Asp241Glu)
22g.37084336A>GCA514485471TMPRSS6c.1155T>C (p.Asp385=)
c.1182T>C (p.Asp394=)
c.168T>C (p.Asp56=)
c.723T>C (p.Asp241=)
dbSNP gnomAD v2 gnomAD v4
22g.37084336A>TCA411424279TMPRSS6c.1155T>A (p.Asp385Glu)
c.1182T>A (p.Asp394Glu)
c.168T>A (p.Asp56Glu)
c.723T>A (p.Asp241Glu)
COSMIC COSMIC COSMIC
22g.37084337T>ACA10215753TMPRSS6c.1154A>T (p.Asp385Val)
c.1181A>T (p.Asp394Val)
c.167A>T (p.Asp56Val)
c.722A>T (p.Asp241Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37084337T>CCA411424282TMPRSS6c.1154A>G (p.Asp385Gly)
c.1181A>G (p.Asp394Gly)
c.167A>G (p.Asp56Gly)
c.722A>G (p.Asp241Gly)
dbSNP gnomAD v3 gnomAD v4
22g.37084337T>GCA411424284TMPRSS6c.1154A>C (p.Asp385Ala)
c.1181A>C (p.Asp394Ala)
c.167A>C (p.Asp56Ala)
c.722A>C (p.Asp241Ala)
22g.37084337T=CA2404175877TMPRSS6c.1154A= (p.Asp385=)
c.1181A= (p.Asp394=)
c.167A= (p.Asp56=)
c.722A= (p.Asp241=)
22g.37084338C>ACA411424286TMPRSS6c.1153G>T (p.Asp385Tyr)
c.1180G>T (p.Asp394Tyr)
c.166G>T (p.Asp56Tyr)
c.721G>T (p.Asp241Tyr)
22g.37084338C=CA2404175878TMPRSS6c.1153G= (p.Asp385=)
c.1180G= (p.Asp394=)
c.166G= (p.Asp56=)
c.721G= (p.Asp241=)
22g.37084338C>GCA411424287TMPRSS6c.1153G>C (p.Asp385His)
c.1180G>C (p.Asp394His)
c.166G>C (p.Asp56His)
c.721G>C (p.Asp241His)
22g.37084338C>TCA324060185TMPRSS6c.1153G>A (p.Asp385Asn)
c.1180G>A (p.Asp394Asn)
c.166G>A (p.Asp56Asn)
c.721G>A (p.Asp241Asn)
dbSNP gnomAD v3 gnomAD v4
22g.37084339A=CA2404175879TMPRSS6c.1152T= (p.Tyr384=)
c.1179T= (p.Tyr393=)
c.165T= (p.Tyr55=)
c.720T= (p.Tyr240=)
22g.37084339A>CCA114993TMPRSS6c.1152T>G (p.Tyr384Ter)
c.1179T>G (p.Tyr393Ter)
c.165T>G (p.Tyr55Ter)
c.720T>G (p.Tyr240Ter)
ClinVar dbSNP gnomAD v4
22g.37084339A>GCA514485513TMPRSS6c.1152T>C (p.Tyr384=)
c.1179T>C (p.Tyr393=)
c.165T>C (p.Tyr55=)
c.720T>C (p.Tyr240=)
22g.37084339A>TCA411424291TMPRSS6c.1152T>A (p.Tyr384Ter)
c.1179T>A (p.Tyr393Ter)
c.165T>A (p.Tyr55Ter)
c.720T>A (p.Tyr240Ter)
22g.37084340T>ACA411424293TMPRSS6c.1151A>T (p.Tyr384Phe)
c.1178A>T (p.Tyr393Phe)
c.164A>T (p.Tyr55Phe)
c.719A>T (p.Tyr240Phe)
22g.37084340T>CCA411424294TMPRSS6c.1151A>G (p.Tyr384Cys)
c.1178A>G (p.Tyr393Cys)
c.164A>G (p.Tyr55Cys)
c.719A>G (p.Tyr240Cys)
22g.37084340T>GCA411424296TMPRSS6c.1151A>C (p.Tyr384Ser)
c.1178A>C (p.Tyr393Ser)
c.164A>C (p.Tyr55Ser)
c.719A>C (p.Tyr240Ser)
22g.37084341A>CCA411424302TMPRSS6c.1150T>G (p.Tyr384Asp)
c.1177T>G (p.Tyr393Asp)
c.163T>G (p.Tyr55Asp)
c.718T>G (p.Tyr240Asp)
22g.37084341A>GCA411424301TMPRSS6c.1150T>C (p.Tyr384His)
c.1177T>C (p.Tyr393His)
c.163T>C (p.Tyr55His)
c.718T>C (p.Tyr240His)
gnomAD v4
22g.37084341A>TCA411424299TMPRSS6c.1150T>A (p.Tyr384Asn)
c.1177T>A (p.Tyr393Asn)
c.163T>A (p.Tyr55Asn)
c.718T>A (p.Tyr240Asn)
22g.37084342C>ACA411424305TMPRSS6c.1149G>T (p.Lys383Asn)
c.1176G>T (p.Lys392Asn)
c.162G>T (p.Lys54Asn)
c.717G>T (p.Lys239Asn)
22g.37084342C=CA2404175880TMPRSS6c.1149G= (p.Lys383=)
c.1176G= (p.Lys392=)
c.162G= (p.Lys54=)
c.717G= (p.Lys239=)
22g.37084342C>GCA411424308TMPRSS6c.1149G>C (p.Lys383Asn)
c.1176G>C (p.Lys392Asn)
c.162G>C (p.Lys54Asn)
c.717G>C (p.Lys239Asn)
dbSNP gnomAD v4
22g.37084342C>TCA10215754TMPRSS6c.1149G>A (p.Lys383=)
c.1176G>A (p.Lys392=)
c.162G>A (p.Lys54=)
c.717G>A (p.Lys239=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37084343T>ACA411424311TMPRSS6c.1148A>T (p.Lys383Met)
c.1175A>T (p.Lys392Met)
c.161A>T (p.Lys54Met)
c.716A>T (p.Lys239Met)
22g.37084343T>CCA411424313TMPRSS6c.1148A>G (p.Lys383Arg)
c.1175A>G (p.Lys392Arg)
c.161A>G (p.Lys54Arg)
c.716A>G (p.Lys239Arg)
22g.37084343T>GCA411424314TMPRSS6c.1148A>C (p.Lys383Thr)
c.1175A>C (p.Lys392Thr)
c.161A>C (p.Lys54Thr)
c.716A>C (p.Lys239Thr)
22g.37084344T>ACA411424316TMPRSS6c.1147A>T (p.Lys383Ter)
c.1174A>T (p.Lys392Ter)
c.160A>T (p.Lys54Ter)
c.715A>T (p.Lys239Ter)
22g.37084344T>CCA411424318TMPRSS6c.1147A>G (p.Lys383Glu)
c.1174A>G (p.Lys392Glu)
c.160A>G (p.Lys54Glu)
c.715A>G (p.Lys239Glu)
22g.37084344T>GCA411424320TMPRSS6c.1147A>C (p.Lys383Gln)
c.1174A>C (p.Lys392Gln)
c.160A>C (p.Lys54Gln)
c.715A>C (p.Lys239Gln)
22g.37084345C>ACA411424322TMPRSS6c.1146G>T (p.Gln382His)
c.1173G>T (p.Gln391His)
c.159G>T (p.Gln53His)
c.714G>T (p.Gln238His)
22g.37084345C=CA2404175881TMPRSS6c.1146G= (p.Gln382=)
c.1173G= (p.Gln391=)
c.159G= (p.Gln53=)
c.714G= (p.Gln238=)
22g.37084345C>GCA411424324TMPRSS6c.1146G>C (p.Gln382His)
c.1173G>C (p.Gln391His)
c.159G>C (p.Gln53His)
c.714G>C (p.Gln238His)
dbSNP gnomAD v3 gnomAD v4
22g.37084345C>TCA514485540TMPRSS6c.1146G>A (p.Gln382=)
c.1173G>A (p.Gln391=)
c.159G>A (p.Gln53=)
c.714G>A (p.Gln238=)
dbSNP

Number of alleles fetched