Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37084241_37084259del | CA2577705926 | TMPRSS6 | c.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) | |
22 | g.37084239_37084261del | CA2656489222 | TMPRSS6 | c.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 |
22 | g.37084248_37084285del | CA2656489246 | TMPRSS6 | c.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 |
22 | g.37084252_37084280del | CA2656489249 | TMPRSS6 | c.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 |
22 | g.37084252_37084261del | CA2656489293 | TMPRSS6 | c.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 |
22 | g.37084246G>A | CA324060049 | TMPRSS6 | c.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 |
22 | g.37084246G= | CA2404175826 | TMPRSS6 | c.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=) | |
22 | g.37084246G>T | CA2577705927 | TMPRSS6 | c.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 |
22 | g.37084253_37084258del | CA2656489297 | TMPRSS6 | c.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 |
22 | g.37084247G>A | CA411423927 | TMPRSS6 | c.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) | |
22 | g.37084247G>C | CA411423929 | TMPRSS6 | c.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) | |
22 | g.37084247G>T | CA411423931 | TMPRSS6 | c.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) | |
22 | g.37084248G>A | CA411423933 | TMPRSS6 | c.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 |
22 | g.37084248G>C | CA411423935 | TMPRSS6 | c.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 |
22 | g.37084248G= | CA2404175827 | TMPRSS6 | c.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=) | |
22 | g.37084248G>T | CA411423937 | TMPRSS6 | c.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 |
22 | g.37084249A= | CA2404175828 | TMPRSS6 | c.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=) | |
22 | g.37084249A>G | CA752893033 | TMPRSS6 | c.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 |
22 | g.37084249A>T | CA1025533244 | TMPRSS6 | c.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 |
22 | g.37084250G>A | CA411423940 | TMPRSS6 | c.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 |
22 | g.37084250G>C | CA411423941 | TMPRSS6 | c.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) | |
22 | g.37084250G= | CA2404175829 | TMPRSS6 | c.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=) | |
22 | g.37084250G>T | CA411423939 | TMPRSS6 | c.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 |
22 | g.37084254del | CA2656489311 | TMPRSS6 | c.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 |
22 | g.37084251G>A | CA10215734 | TMPRSS6 | c.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 |
22 | g.37084251G>C | CA10215733 | TMPRSS6 | c.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 |
22 | g.37084251G= | CA2404175830 | TMPRSS6 | c.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=) | |
22 | g.37084251G>T | CA411423945 | TMPRSS6 | c.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 |
22 | g.37084252G>A | CA10215735 | TMPRSS6 | c.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 |
22 | g.37084252G= | CA2404175831 | TMPRSS6 | c.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=) | |
22 | g.37084252G>T | CA2656489318 | TMPRSS6 | c.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 |
22 | g.37084253G>A | CA411423949 | TMPRSS6 | c.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 |
22 | g.37084253G>C | CA411423948 | TMPRSS6 | c.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) | |
22 | g.37084253G= | CA2404175832 | TMPRSS6 | c.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=) | |
22 | g.37084253G>T | CA411423947 | TMPRSS6 | c.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 |
22 | g.37084256_37084262del | CA2656489322 | TMPRSS6 | c.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 |
22 | g.37084254_37084282del | CA2656489326 | TMPRSS6 | c.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 |
22 | g.37084254G>A | CA411423952 | TMPRSS6 | c.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) | |
22 | g.37084254G>C | CA411423953 | TMPRSS6 | c.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) | |
22 | g.37084254G= | CA2404175833 | TMPRSS6 | c.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=) | |
22 | g.37084254G>T | CA10215736 | TMPRSS6 | c.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 |
22 | g.37084263_37084281dup | CA2656489330 | TMPRSS6 | c.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 |
22 | g.37084255del | CA2656489334 | TMPRSS6 | c.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 |
22 | g.37084255A>G | CA1025533249 | TMPRSS6 | c.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 |
22 | g.37084255A>T | CA2656489335 | TMPRSS6 | c.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 |
22 | g.37084256G>A | CA324060061 | TMPRSS6 | c.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 |
22 | g.37084256G>C | CA411423956 | TMPRSS6 | c.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) | |
22 | g.37084256G= | CA2404175834 | TMPRSS6 | c.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=) | |
22 | g.37084256G>T | CA411423958 | TMPRSS6 | c.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 |
22 | g.37084257G>A | CA411423963 | TMPRSS6 | c.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) | |
22 | g.37084257G>C | CA411423962 | TMPRSS6 | c.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) | |
22 | g.37084257G>T | CA411423961 | TMPRSS6 | c.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 |
22 | g.37084259del | CA2577705928 | TMPRSS6 | c.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) | |
22 | g.37084259A= | CA2404175835 | TMPRSS6 | c.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=) | |
22 | g.37084259A>C | CA411423966 | TMPRSS6 | c.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) | |
22 | g.37084259A>G | CA10215737 | TMPRSS6 | c.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 |
22 | g.37084259A>T | CA411423967 | TMPRSS6 | c.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) | |
22 | g.37084260G>A | CA10215738 | TMPRSS6 | c.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 |
22 | g.37084260G>C | CA411423973 | TMPRSS6 | c.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) | |
22 | g.37084260G= | CA2404175836 | TMPRSS6 | c.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=) | |
22 | g.37084260G>T | CA411423971 | TMPRSS6 | c.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 |
22 | g.37084261G>C | CA411423974 | TMPRSS6 | c.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) | |
22 | g.37084261G>T | CA411423976 | TMPRSS6 | c.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 |
22 | g.37084262A>C | CA411423978 | TMPRSS6 | c.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) | |
22 | g.37084262A>G | CA411423979 | TMPRSS6 | c.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) | |
22 | g.37084262A>T | CA411423981 | TMPRSS6 | c.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) | |
22 | g.37084263A>C | CA411423983 | TMPRSS6 | c.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) | |
22 | g.37084263A>G | CA411423985 | TMPRSS6 | c.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) | |
22 | g.37084263A>T | CA411423987 | TMPRSS6 | c.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) | |
22 | g.37084264A>G | CA2577705929 | TMPRSS6 | c.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) | |
22 | g.37084265G>A | CA411423989 | TMPRSS6 | c.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 |
22 | g.37084265G>C | CA411423990 | TMPRSS6 | c.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) | |
22 | g.37084265G= | CA2404175837 | TMPRSS6 | c.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=) | |
22 | g.37084265G>T | CA411423992 | TMPRSS6 | c.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 |
22 | g.37084266G>A | CA411423994 | TMPRSS6 | c.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 |
22 | g.37084266G>C | CA324060067 | TMPRSS6 | c.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 |
22 | g.37084266G= | CA2404175838 | TMPRSS6 | c.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=) | |
22 | g.37084266G>T | CA411423996 | TMPRSS6 | c.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 |
22 | g.37084267A= | CA2404175839 | TMPRSS6 | c.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=) | |
22 | g.37084267A>C | CA639393606 | TMPRSS6 | c.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 |
22 | g.37084268A>C | CA411423998 | TMPRSS6 | c.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) | |
22 | g.37084268A>G | CA411424001 | TMPRSS6 | c.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) | |
22 | g.37084268A>T | CA411424000 | TMPRSS6 | c.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) | |
22 | g.37084269G>A | CA411424002 | TMPRSS6 | c.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 |
22 | g.37084269G>C | CA411424003 | TMPRSS6 | c.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) | |
22 | g.37084269G>T | CA411424004 | TMPRSS6 | c.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 |
22 | g.37084270C>A | CA411424006 | TMPRSS6 | c.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) | |
22 | g.37084270C>G | CA411424008 | TMPRSS6 | c.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) | |
22 | g.37084270C>T | CA411424009 | TMPRSS6 | c.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 |
22 | g.37084271C>A | CA411424010 | TMPRSS6 | c.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) | |
22 | g.37084271C= | CA2404175840 | TMPRSS6 | c.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=) | |
22 | g.37084271C>G | CA411424012 | TMPRSS6 | c.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) | |
22 | g.37084271C>T | CA411424014 | TMPRSS6 | c.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 |
22 | g.37084272A>C | CA411424018 | TMPRSS6 | c.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) | |
22 | g.37084272A>G | CA411424020 | TMPRSS6 | c.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) | |
22 | g.37084272A>T | CA411424016 | TMPRSS6 | c.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) | |
22 | g.37084273G>A | CA639393607 | TMPRSS6 | c.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 |
22 | g.37084273G= | CA2404175841 | TMPRSS6 | c.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=) | |
22 | g.37084273G>T | CA2656489361 | TMPRSS6 | c.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 |
22 | g.37084274A= | CA2404175842 | TMPRSS6 | c.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=) | |
22 | g.37084274A>C | CA411424022 | TMPRSS6 | c.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) | |
22 | g.37084274A>G | CA411424023 | TMPRSS6 | c.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) | |
22 | g.37084274A>T | CA10215739 | TMPRSS6 | c.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 |
22 | g.37084275G>A | CA411424026 | TMPRSS6 | c.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 |
22 | g.37084275G>C | CA411424028 | TMPRSS6 | c.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) | |
22 | g.37084275G= | CA2404175843 | TMPRSS6 | c.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=) | |
22 | g.37084275G>T | CA411424030 | TMPRSS6 | c.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 |
22 | g.37084276G>A | CA2508952602 | TMPRSS6 | c.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) | |
22 | g.37084277G>A | CA411424032 | TMPRSS6 | c.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) | |
22 | g.37084277G>C | CA411424033 | TMPRSS6 | c.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 |
22 | g.37084277G= | CA2404175844 | TMPRSS6 | c.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=) | |
22 | g.37084277G>T | CA411424035 | TMPRSS6 | c.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) | |
22 | g.37084278A= | CA2404175845 | TMPRSS6 | c.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=) | |
22 | g.37084278A>C | CA324060081 | TMPRSS6 | c.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 |
22 | g.37084278A>G | CA411424038 | TMPRSS6 | c.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 |
22 | g.37084278A>T | CA411424040 | TMPRSS6 | c.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 |
22 | g.37084280G>A | CA411424044 | TMPRSS6 | c.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) | |
22 | g.37084280G>C | CA411424042 | TMPRSS6 | c.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 |
22 | g.37084280G= | CA2404175846 | TMPRSS6 | c.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=) | |
22 | g.37084280G>T | CA411424043 | TMPRSS6 | c.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 |
22 | g.37084281A>C | CA411424046 | TMPRSS6 | c.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) | |
22 | g.37084281A>G | CA411424048 | TMPRSS6 | c.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) | |
22 | g.37084281A>T | CA411424049 | TMPRSS6 | c.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) | |
22 | g.37084282G>A | CA1025533256 | TMPRSS6 | c.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 |
22 | g.37084282G= | CA2404175847 | TMPRSS6 | c.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=) | |
22 | g.37084283A>C | CA411424050 | TMPRSS6 | c.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) | |
22 | g.37084283A>G | CA411424052 | TMPRSS6 | c.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) | |
22 | g.37084283A>T | CA411424054 | TMPRSS6 | c.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) | |
22 | g.37084284G>A | CA10215740 | TMPRSS6 | c.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 |
22 | g.37084284G>C | CA411424057 | TMPRSS6 | c.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 |
22 | g.37084284G= | CA2404175848 | TMPRSS6 | c.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=) | |
22 | g.37084284G>T | CA411424058 | TMPRSS6 | c.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) | |
22 | g.37084285G>A | CA10215742 | TMPRSS6 | c.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 |
22 | g.37084285G>C | CA10215741 | TMPRSS6 | c.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 |
22 | g.37084285G= | CA2404175849 | TMPRSS6 | c.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=) | |
22 | g.37084285G>T | CA411424060 | TMPRSS6 | c.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) | |
22 | g.37084286A>C | CA411424066 | TMPRSS6 | c.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) | |
22 | g.37084286A>G | CA411424064 | TMPRSS6 | c.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) | |
22 | g.37084286A>T | CA411424062 | TMPRSS6 | c.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) | |
22 | g.37084287A= | CA2404175850 | TMPRSS6 | c.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=) | |
22 | g.37084287A>C | CA411424067 | TMPRSS6 | c.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) | |
22 | g.37084287A>G | CA411424071 | TMPRSS6 | c.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 |
22 | g.37084287A>T | CA411424069 | TMPRSS6 | c.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) | |
22 | g.37084288G>A | CA10215743 | TMPRSS6 | c.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 |
22 | g.37084288G>C | CA411424074 | TMPRSS6 | c.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) | |
22 | g.37084288G= | CA2404175851 | TMPRSS6 | c.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=) | |
22 | g.37084288G>T | CA411424076 | TMPRSS6 | c.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) | |
22 | g.37084289T>A | CA411424078 | TMPRSS6 | c.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) | |
22 | g.37084289T>C | CA411424079 | TMPRSS6 | c.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) | |
22 | g.37084289T>G | CA411424080 | TMPRSS6 | c.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) | |
22 | g.37084290G>A | CA411424082 | TMPRSS6 | c.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 |
22 | g.37084290G>C | CA411424084 | TMPRSS6 | c.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 |
22 | g.37084290G= | CA2404175852 | TMPRSS6 | c.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=) | |
22 | g.37084290G>T | CA10215744 | TMPRSS6 | c.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 |
22 | g.37084291G>C | CA411424087 | TMPRSS6 | c.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) | |
22 | g.37084291G= | CA2404175853 | TMPRSS6 | c.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=) | |
22 | g.37084291G>T | CA411424088 | TMPRSS6 | c.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 |
22 | g.37084292T>A | CA411424091 | TMPRSS6 | c.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) | |
22 | g.37084292T>C | CA324060116 | TMPRSS6 | c.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 |
22 | g.37084292T>G | CA411424090 | TMPRSS6 | c.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) | |
22 | g.37084292T= | CA2404175854 | TMPRSS6 | c.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=) | |
22 | g.37084293A= | CA2404175855 | TMPRSS6 | c.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=) | |
22 | g.37084293A>C | CA411424092 | TMPRSS6 | c.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 |
22 | g.37084293A>G | CA411424093 | TMPRSS6 | c.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) | |
22 | g.37084293A>T | CA411424095 | TMPRSS6 | c.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) | |
22 | g.37084294C>A | CA411424097 | TMPRSS6 | c.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) | |
22 | g.37084294C>G | CA411424098 | TMPRSS6 | c.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) | |
22 | g.37084294C>T | CA411424100 | TMPRSS6 | c.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) | |
22 | g.37084295C>A | CA411424102 | TMPRSS6 | c.1196G>T (p.Arg399Met) c.1223G>T (p.Arg408Met) c.209G>T (p.Arg70Ile) c.764G>T (p.Arg255Met) | |
22 | g.37084295C= | CA2404175856 | TMPRSS6 | c.1196G= (p.Arg399=) c.1223G= (p.Arg408=) c.209G= (p.Arg70=) c.764G= (p.Arg255=) | |
22 | g.37084295C>G | CA411424104 | TMPRSS6 | c.1196G>C (p.Arg399Thr) c.1223G>C (p.Arg408Thr) c.209G>C (p.Arg70Thr) c.764G>C (p.Arg255Thr) | |
22 | g.37084295C>T | CA411424106 | TMPRSS6 | c.1196G>A (p.Arg399Lys) c.1223G>A (p.Arg408Lys) c.209G>A (p.Arg70Lys) c.764G>A (p.Arg255Lys) | dbSNP |
22 | g.37084296T>A | CA411424108 | TMPRSS6 | c.1195A>T (p.Arg399Trp) c.1222A>T (p.Arg408Trp) c.208A>T (p.Arg70Ter) c.763A>T (p.Arg255Trp) | |
22 | g.37084296T>C | CA411424109 | TMPRSS6 | c.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 |
22 | g.37084296T>G | CA514485168 | TMPRSS6 | c.1195A>C (p.Arg399=) c.1222A>C (p.Arg408=) c.208A>C (p.Arg70=) c.763A>C (p.Arg255=) | |
22 | g.37084296T= | CA2404175857 | TMPRSS6 | c.1195A= (p.Arg399=) c.1222A= (p.Arg408=) c.208A= (p.Arg70=) c.763A= (p.Arg255=) | |
22 | g.37084297C>A | CA10215745 | TMPRSS6 | c.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 |
22 | g.37084297C= | CA2404175858 | TMPRSS6 | c.1194G= (p.Arg398=) c.1221G= (p.Arg407=) c.207G= (p.Arg69=) c.762G= (p.Arg254=) | |
22 | g.37084297C>G | CA411424111 | TMPRSS6 | c.1194G>C (p.Arg398Ser) c.1221G>C (p.Arg407Ser) c.207G>C (p.Arg69Ser) c.762G>C (p.Arg254Ser) | |
22 | g.37084297C>T | CA514485186 | TMPRSS6 | c.1194G>A (p.Arg398=) c.1221G>A (p.Arg407=) c.207G>A (p.Arg69=) c.762G>A (p.Arg254=) | |
22 | g.37084298C>A | CA411424114 | TMPRSS6 | c.1193G>T (p.Arg398Met) c.1220G>T (p.Arg407Met) c.206G>T (p.Arg69Met) c.761G>T (p.Arg254Met) | |
22 | g.37084298C>G | CA411424116 | TMPRSS6 | c.1193G>C (p.Arg398Thr) c.1220G>C (p.Arg407Thr) c.206G>C (p.Arg69Thr) c.761G>C (p.Arg254Thr) | |
22 | g.37084298C>T | CA411424117 | TMPRSS6 | c.1193G>A (p.Arg398Lys) c.1220G>A (p.Arg407Lys) c.206G>A (p.Arg69Lys) c.761G>A (p.Arg254Lys) | |
22 | g.37084299T>A | CA411424120 | TMPRSS6 | c.1192A>T (p.Arg398Trp) c.1219A>T (p.Arg407Trp) c.205A>T (p.Arg69Trp) c.760A>T (p.Arg254Trp) | |
22 | g.37084299T>C | CA411424121 | TMPRSS6 | c.1192A>G (p.Arg398Gly) c.1219A>G (p.Arg407Gly) c.205A>G (p.Arg69Gly) c.760A>G (p.Arg254Gly) | |
22 | g.37084299T>G | CA514485199 | TMPRSS6 | c.1192A>C (p.Arg398=) c.1219A>C (p.Arg407=) c.205A>C (p.Arg69=) c.760A>C (p.Arg254=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084299T= | CA2404175859 | TMPRSS6 | c.1192A= (p.Arg398=) c.1219A= (p.Arg407=) c.205A= (p.Arg69=) c.760A= (p.Arg254=) | |
22 | g.37084300G>A | CA324060122 | TMPRSS6 | c.1191C>T (p.Asn397=) c.1218C>T (p.Asn406=) c.204C>T (p.Asn68=) c.759C>T (p.Asn253=) | dbSNP |
22 | g.37084300G>C | CA411424123 | TMPRSS6 | c.1191C>G (p.Asn397Lys) c.1218C>G (p.Asn406Lys) c.204C>G (p.Asn68Lys) c.759C>G (p.Asn253Lys) | |
22 | g.37084300G= | CA2404175860 | TMPRSS6 | c.1191C= (p.Asn397=) c.1218C= (p.Asn406=) c.204C= (p.Asn68=) c.759C= (p.Asn253=) | |
22 | g.37084300G>T | CA411424125 | TMPRSS6 | c.1191C>A (p.Asn397Lys) c.1218C>A (p.Asn406Lys) c.204C>A (p.Asn68Lys) c.759C>A (p.Asn253Lys) | |
22 | g.37084301T>A | CA411424128 | TMPRSS6 | c.1190A>T (p.Asn397Ile) c.1217A>T (p.Asn406Ile) c.203A>T (p.Asn68Ile) c.758A>T (p.Asn253Ile) | |
22 | g.37084301T>C | CA411424129 | TMPRSS6 | c.1190A>G (p.Asn397Ser) c.1217A>G (p.Asn406Ser) c.203A>G (p.Asn68Ser) c.758A>G (p.Asn253Ser) | dbSNP |
22 | g.37084301T>G | CA411424130 | TMPRSS6 | c.1190A>C (p.Asn397Thr) c.1217A>C (p.Asn406Thr) c.203A>C (p.Asn68Thr) c.758A>C (p.Asn253Thr) | |
22 | g.37084301T= | CA2404175861 | TMPRSS6 | c.1190A= (p.Asn397=) c.1217A= (p.Asn406=) c.203A= (p.Asn68=) c.758A= (p.Asn253=) | |
22 | g.37084302T>A | CA411424132 | TMPRSS6 | c.1189A>T (p.Asn397Tyr) c.1216A>T (p.Asn406Tyr) c.202A>T (p.Asn68Tyr) c.757A>T (p.Asn253Tyr) | |
22 | g.37084302T>C | CA411424133 | TMPRSS6 | c.1189A>G (p.Asn397Asp) c.1216A>G (p.Asn406Asp) c.202A>G (p.Asn68Asp) c.757A>G (p.Asn253Asp) | gnomAD v4 |
22 | g.37084302T>G | CA411424135 | TMPRSS6 | c.1189A>C (p.Asn397His) c.1216A>C (p.Asn406His) c.202A>C (p.Asn68His) c.757A>C (p.Asn253His) | |
22 | g.37084303C>A | CA411424139 | TMPRSS6 | c.1188G>T (p.Gln396His) c.1215G>T (p.Gln405His) c.201G>T (p.Gln67His) c.756G>T (p.Gln252His) | |
22 | g.37084303C>G | CA411424137 | TMPRSS6 | c.1188G>C (p.Gln396His) c.1215G>C (p.Gln405His) c.201G>C (p.Gln67His) c.756G>C (p.Gln252His) | gnomAD v4 |
22 | g.37084303C>T | CA514485252 | TMPRSS6 | c.1188G>A (p.Gln396=) c.1215G>A (p.Gln405=) c.201G>A (p.Gln67=) c.756G>A (p.Gln252=) | COSMIC COSMIC COSMIC |
22 | g.37084304T>A | CA411424141 | TMPRSS6 | c.1187A>T (p.Gln396Leu) c.1214A>T (p.Gln405Leu) c.200A>T (p.Gln67Leu) c.755A>T (p.Gln252Leu) | |
22 | g.37084304T>C | CA411424143 | TMPRSS6 | c.1187A>G (p.Gln396Arg) c.1214A>G (p.Gln405Arg) c.200A>G (p.Gln67Arg) c.755A>G (p.Gln252Arg) | |
22 | g.37084304T>G | CA411424144 | TMPRSS6 | c.1187A>C (p.Gln396Pro) c.1214A>C (p.Gln405Pro) c.200A>C (p.Gln67Pro) c.755A>C (p.Gln252Pro) | |
22 | g.37084305G>A | CA411424146 | TMPRSS6 | c.1186C>T (p.Gln396Ter) c.1213C>T (p.Gln405Ter) c.199C>T (p.Gln67Ter) c.754C>T (p.Gln252Ter) | |
22 | g.37084305G>C | CA411424148 | TMPRSS6 | c.1186C>G (p.Gln396Glu) c.1213C>G (p.Gln405Glu) c.199C>G (p.Gln67Glu) c.754C>G (p.Gln252Glu) | |
22 | g.37084305G>T | CA411424150 | TMPRSS6 | c.1186C>A (p.Gln396Lys) c.1213C>A (p.Gln405Lys) c.199C>A (p.Gln67Lys) c.754C>A (p.Gln252Lys) | |
22 | g.37084306G>A | CA514485271 | TMPRSS6 | c.1185C>T (p.Ile395=) c.1212C>T (p.Ile404=) c.198C>T (p.Ile66=) c.753C>T (p.Ile251=) | gnomAD v4 |
22 | g.37084306G>C | CA411424152 | TMPRSS6 | c.1185C>G (p.Ile395Met) c.1212C>G (p.Ile404Met) c.198C>G (p.Ile66Met) c.753C>G (p.Ile251Met) | |
22 | g.37084306G>T | CA514485276 | TMPRSS6 | c.1185C>A (p.Ile395=) c.1212C>A (p.Ile404=) c.198C>A (p.Ile66=) c.753C>A (p.Ile251=) | |
22 | g.37084307A>C | CA411424154 | TMPRSS6 | c.1184T>G (p.Ile395Ser) c.1211T>G (p.Ile404Ser) c.197T>G (p.Ile66Ser) c.752T>G (p.Ile251Ser) | |
22 | g.37084307A>G | CA411424155 | TMPRSS6 | c.1184T>C (p.Ile395Thr) c.1211T>C (p.Ile404Thr) c.197T>C (p.Ile66Thr) c.752T>C (p.Ile251Thr) | |
22 | g.37084307A>T | CA411424156 | TMPRSS6 | c.1184T>A (p.Ile395Asn) c.1211T>A (p.Ile404Asn) c.197T>A (p.Ile66Asn) c.752T>A (p.Ile251Asn) | |
22 | g.37084308T>A | CA411424158 | TMPRSS6 | c.1183A>T (p.Ile395Phe) c.1210A>T (p.Ile404Phe) c.196A>T (p.Ile66Phe) c.751A>T (p.Ile251Phe) | |
22 | g.37084308T>C | CA10215746 | TMPRSS6 | c.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 |
22 | g.37084308T>G | CA411424161 | TMPRSS6 | c.1183A>C (p.Ile395Leu) c.1210A>C (p.Ile404Leu) c.196A>C (p.Ile66Leu) c.751A>C (p.Ile251Leu) | |
22 | g.37084308T= | CA2404175862 | TMPRSS6 | c.1183A= (p.Ile395=) c.1210A= (p.Ile404=) c.196A= (p.Ile66=) c.751A= (p.Ile251=) | |
22 | g.37084309C>A | CA514485293 | TMPRSS6 | c.1182G>T (p.Thr394=) c.1209G>T (p.Thr403=) c.195G>T (p.Thr65=) c.750G>T (p.Thr250=) | |
22 | g.37084309C= | CA2404175863 | TMPRSS6 | c.1182G= (p.Thr394=) c.1209G= (p.Thr403=) c.195G= (p.Thr65=) c.750G= (p.Thr250=) | |
22 | g.37084309C>G | CA514485296 | TMPRSS6 | c.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 |
22 | g.37084309C>T | CA10215747 | TMPRSS6 | c.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 |
22 | g.37084310G>A | CA10215748 | TMPRSS6 | c.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 |
22 | g.37084310G>C | CA411424166 | TMPRSS6 | c.1181C>G (p.Thr394Arg) c.1208C>G (p.Thr403Arg) c.194C>G (p.Thr65Arg) c.749C>G (p.Thr250Arg) | gnomAD v4 |
22 | g.37084310G= | CA2404175864 | TMPRSS6 | c.1181C= (p.Thr394=) c.1208C= (p.Thr403=) c.194C= (p.Thr65=) c.749C= (p.Thr250=) | |
22 | g.37084310G>T | CA411424164 | TMPRSS6 | c.1181C>A (p.Thr394Lys) c.1208C>A (p.Thr403Lys) c.194C>A (p.Thr65Lys) c.749C>A (p.Thr250Lys) | |
22 | g.37084311T>A | CA411424175 | TMPRSS6 | c.1180A>T (p.Thr394Ser) c.1207A>T (p.Thr403Ser) c.193A>T (p.Thr65Ser) c.748A>T (p.Thr250Ser) | gnomAD v4 |
22 | g.37084311T>C | CA411424168 | TMPRSS6 | c.1180A>G (p.Thr394Ala) c.1207A>G (p.Thr403Ala) c.193A>G (p.Thr65Ala) c.748A>G (p.Thr250Ala) | gnomAD v4 |
22 | g.37084311T>G | CA411424174 | TMPRSS6 | c.1180A>C (p.Thr394Pro) c.1207A>C (p.Thr403Pro) c.193A>C (p.Thr65Pro) c.748A>C (p.Thr250Pro) | |
22 | g.37084312C>A | CA411424177 | TMPRSS6 | c.1179G>T (p.Trp393Cys) c.1206G>T (p.Trp402Cys) c.192G>T (p.Trp64Cys) c.747G>T (p.Trp249Cys) | |
22 | g.37084312C= | CA2404175865 | TMPRSS6 | c.1179G= (p.Trp393=) c.1206G= (p.Trp402=) c.192G= (p.Trp64=) c.747G= (p.Trp249=) | |
22 | g.37084312C>G | CA411424179 | TMPRSS6 | c.1179G>C (p.Trp393Cys) c.1206G>C (p.Trp402Cys) c.192G>C (p.Trp64Cys) c.747G>C (p.Trp249Cys) | |
22 | g.37084312C>T | CA411424180 | TMPRSS6 | c.1179G>A (p.Trp393Ter) c.1206G>A (p.Trp402Ter) c.192G>A (p.Trp64Ter) c.747G>A (p.Trp249Ter) | dbSNP gnomAD v2 |
22 | g.37084313C>A | CA324060139 | TMPRSS6 | c.1178G>T (p.Trp393Leu) c.1205G>T (p.Trp402Leu) c.191G>T (p.Trp64Leu) c.746G>T (p.Trp249Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084313C= | CA2404175866 | TMPRSS6 | c.1178G= (p.Trp393=) c.1205G= (p.Trp402=) c.191G= (p.Trp64=) c.746G= (p.Trp249=) | |
22 | g.37084313C>G | CA411424183 | TMPRSS6 | c.1178G>C (p.Trp393Ser) c.1205G>C (p.Trp402Ser) c.191G>C (p.Trp64Ser) c.746G>C (p.Trp249Ser) | |
22 | g.37084313C>T | CA411424184 | TMPRSS6 | c.1178G>A (p.Trp393Ter) c.1205G>A (p.Trp402Ter) c.191G>A (p.Trp64Ter) c.746G>A (p.Trp249Ter) | |
22 | g.37084314A>C | CA411424186 | TMPRSS6 | c.1177T>G (p.Trp393Gly) c.1204T>G (p.Trp402Gly) c.190T>G (p.Trp64Gly) c.745T>G (p.Trp249Gly) | |
22 | g.37084314A>G | CA411424188 | TMPRSS6 | c.1177T>C (p.Trp393Arg) c.1204T>C (p.Trp402Arg) c.190T>C (p.Trp64Arg) c.745T>C (p.Trp249Arg) | |
22 | g.37084314A>T | CA411424189 | TMPRSS6 | c.1177T>A (p.Trp393Arg) c.1204T>A (p.Trp402Arg) c.190T>A (p.Trp64Arg) c.745T>A (p.Trp249Arg) | |
22 | g.37084315C>A | CA411424191 | TMPRSS6 | c.1176G>T (p.Gln392His) c.1203G>T (p.Gln401His) c.189G>T (p.Gln63His) c.744G>T (p.Gln248His) | |
22 | g.37084315C>G | CA411424192 | TMPRSS6 | c.1176G>C (p.Gln392His) c.1203G>C (p.Gln401His) c.189G>C (p.Gln63His) c.744G>C (p.Gln248His) | |
22 | g.37084315C>T | CA514485335 | TMPRSS6 | c.1176G>A (p.Gln392=) c.1203G>A (p.Gln401=) c.189G>A (p.Gln63=) c.744G>A (p.Gln248=) | |
22 | g.37084316T>A | CA411424196 | TMPRSS6 | c.1175A>T (p.Gln392Leu) c.1202A>T (p.Gln401Leu) c.188A>T (p.Gln63Leu) c.743A>T (p.Gln248Leu) | |
22 | g.37084316T>C | CA411424194 | TMPRSS6 | c.1175A>G (p.Gln392Arg) c.1202A>G (p.Gln401Arg) c.188A>G (p.Gln63Arg) c.743A>G (p.Gln248Arg) | |
22 | g.37084316T>G | CA411424193 | TMPRSS6 | c.1175A>C (p.Gln392Pro) c.1202A>C (p.Gln401Pro) c.188A>C (p.Gln63Pro) c.743A>C (p.Gln248Pro) | |
22 | g.37084317G>A | CA411424198 | TMPRSS6 | c.1174C>T (p.Gln392Ter) c.1201C>T (p.Gln401Ter) c.187C>T (p.Gln63Ter) c.742C>T (p.Gln248Ter) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084317G>C | CA411424199 | TMPRSS6 | c.1174C>G (p.Gln392Glu) c.1201C>G (p.Gln401Glu) c.187C>G (p.Gln63Glu) c.742C>G (p.Gln248Glu) | |
22 | g.37084317G= | CA2404175867 | TMPRSS6 | c.1174C= (p.Gln392=) c.1201C= (p.Gln401=) c.187C= (p.Gln63=) c.742C= (p.Gln248=) | |
22 | g.37084317G>T | CA411424201 | TMPRSS6 | c.1174C>A (p.Gln392Lys) c.1201C>A (p.Gln401Lys) c.187C>A (p.Gln63Lys) c.742C>A (p.Gln248Lys) | |
22 | g.37084318G>A | CA514485369 | TMPRSS6 | c.1173C>T (p.Gly391=) c.1200C>T (p.Gly400=) c.186C>T (p.Gly62=) c.741C>T (p.Gly247=) | gnomAD v4 |
22 | g.37084318G>C | CA514485366 | TMPRSS6 | c.1173C>G (p.Gly391=) c.1200C>G (p.Gly400=) c.186C>G (p.Gly62=) c.741C>G (p.Gly247=) | |
22 | g.37084318G>T | CA514485362 | TMPRSS6 | c.1173C>A (p.Gly391=) c.1200C>A (p.Gly400=) c.186C>A (p.Gly62=) c.741C>A (p.Gly247=) | |
22 | g.37084319C>A | CA411424203 | TMPRSS6 | c.1172G>T (p.Gly391Val) c.1199G>T (p.Gly400Val) c.185G>T (p.Gly62Val) c.740G>T (p.Gly247Val) | |
22 | g.37084319C>G | CA411424204 | TMPRSS6 | c.1172G>C (p.Gly391Ala) c.1199G>C (p.Gly400Ala) c.185G>C (p.Gly62Ala) c.740G>C (p.Gly247Ala) | |
22 | g.37084319C>T | CA411424206 | TMPRSS6 | c.1172G>A (p.Gly391Asp) c.1199G>A (p.Gly400Asp) c.185G>A (p.Gly62Asp) c.740G>A (p.Gly247Asp) | |
22 | g.37084320C>A | CA411424209 | TMPRSS6 | c.1171G>T (p.Gly391Cys) c.1198G>T (p.Gly400Cys) c.184G>T (p.Gly62Cys) c.739G>T (p.Gly247Cys) | |
22 | g.37084320C>G | CA411424211 | TMPRSS6 | c.1171G>C (p.Gly391Arg) c.1198G>C (p.Gly400Arg) c.184G>C (p.Gly62Arg) c.739G>C (p.Gly247Arg) | |
22 | g.37084320C>T | CA411424213 | TMPRSS6 | c.1171G>A (p.Gly391Ser) c.1198G>A (p.Gly400Ser) c.184G>A (p.Gly62Ser) c.739G>A (p.Gly247Ser) | |
22 | g.37084321C>A | CA411424215 | TMPRSS6 | c.1170G>T (p.Gln390His) c.1197G>T (p.Gln399His) c.183G>T (p.Gln61His) c.738G>T (p.Gln246His) | |
22 | g.37084321C>G | CA411424216 | TMPRSS6 | c.1170G>C (p.Gln390His) c.1197G>C (p.Gln399His) c.183G>C (p.Gln61His) c.738G>C (p.Gln246His) | |
22 | g.37084321C>T | CA514485375 | TMPRSS6 | c.1170G>A (p.Gln390=) c.1197G>A (p.Gln399=) c.183G>A (p.Gln61=) c.738G>A (p.Gln246=) | |
22 | g.37084322T>A | CA411424219 | TMPRSS6 | c.1169A>T (p.Gln390Leu) c.1196A>T (p.Gln399Leu) c.182A>T (p.Gln61Leu) c.737A>T (p.Gln246Leu) | |
22 | g.37084322T>C | CA411424220 | TMPRSS6 | c.1169A>G (p.Gln390Arg) c.1196A>G (p.Gln399Arg) c.182A>G (p.Gln61Arg) c.737A>G (p.Gln246Arg) | |
22 | g.37084322T>G | CA411424222 | TMPRSS6 | c.1169A>C (p.Gln390Pro) c.1196A>C (p.Gln399Pro) c.182A>C (p.Gln61Pro) c.737A>C (p.Gln246Pro) | |
22 | g.37084323G>A | CA411424226 | TMPRSS6 | c.1168C>T (p.Gln390Ter) c.1195C>T (p.Gln399Ter) c.181C>T (p.Gln61Ter) c.736C>T (p.Gln246Ter) | gnomAD v4 |
22 | g.37084323G>C | CA411424227 | TMPRSS6 | c.1168C>G (p.Gln390Glu) c.1195C>G (p.Gln399Glu) c.181C>G (p.Gln61Glu) c.736C>G (p.Gln246Glu) | |
22 | g.37084323G>T | CA411424224 | TMPRSS6 | c.1168C>A (p.Gln390Lys) c.1195C>A (p.Gln399Lys) c.181C>A (p.Gln61Lys) c.736C>A (p.Gln246Lys) | |
22 | g.37084324G>A | CA10215749 | TMPRSS6 | c.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 |
22 | g.37084324G>C | CA514485400 | TMPRSS6 | c.1167C>G (p.Thr389=) c.1194C>G (p.Thr398=) c.180C>G (p.Thr60=) c.735C>G (p.Thr245=) | dbSNP |
22 | g.37084324G= | CA2404175868 | TMPRSS6 | c.1167C= (p.Thr389=) c.1194C= (p.Thr398=) c.180C= (p.Thr60=) c.735C= (p.Thr245=) | |
22 | g.37084324G>T | CA514485393 | TMPRSS6 | c.1167C>A (p.Thr389=) c.1194C>A (p.Thr398=) c.180C>A (p.Thr60=) c.735C>A (p.Thr245=) | |
22 | g.37084325G>A | CA324060162 | TMPRSS6 | c.1166C>T (p.Thr389Ile) c.1193C>T (p.Thr398Ile) c.179C>T (p.Thr60Ile) c.734C>T (p.Thr245Ile) | dbSNP |
22 | g.37084325G>C | CA411424231 | TMPRSS6 | c.1166C>G (p.Thr389Ser) c.1193C>G (p.Thr398Ser) c.179C>G (p.Thr60Ser) c.734C>G (p.Thr245Ser) | |
22 | g.37084325G= | CA2404175869 | TMPRSS6 | c.1166C= (p.Thr389=) c.1193C= (p.Thr398=) c.179C= (p.Thr60=) c.734C= (p.Thr245=) | |
22 | g.37084325G>T | CA411424232 | TMPRSS6 | c.1166C>A (p.Thr389Asn) c.1193C>A (p.Thr398Asn) c.179C>A (p.Thr60Asn) c.734C>A (p.Thr245Asn) | gnomAD v4 |
22 | g.37084326T>A | CA411424234 | TMPRSS6 | c.1165A>T (p.Thr389Ser) c.1192A>T (p.Thr398Ser) c.178A>T (p.Thr60Ser) c.733A>T (p.Thr245Ser) | |
22 | g.37084326T>C | CA411424236 | TMPRSS6 | c.1165A>G (p.Thr389Ala) c.1192A>G (p.Thr398Ala) c.178A>G (p.Thr60Ala) c.733A>G (p.Thr245Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084326T>G | CA411424238 | TMPRSS6 | c.1165A>C (p.Thr389Pro) c.1192A>C (p.Thr398Pro) c.178A>C (p.Thr60Pro) c.733A>C (p.Thr245Pro) | |
22 | g.37084326T= | CA2404175870 | TMPRSS6 | c.1165A= (p.Thr389=) c.1192A= (p.Thr398=) c.178A= (p.Thr60=) c.733A= (p.Thr245=) | |
22 | g.37084327G>A | CA514485405 | TMPRSS6 | c.1164C>T (p.Cys388=) c.1191C>T (p.Cys397=) c.177C>T (p.Cys59=) c.732C>T (p.Cys244=) | dbSNP |
22 | g.37084327G>C | CA411424241 | TMPRSS6 | c.1164C>G (p.Cys388Trp) c.1191C>G (p.Cys397Trp) c.177C>G (p.Cys59Trp) c.732C>G (p.Cys244Trp) | |
22 | g.37084327G= | CA2404175871 | TMPRSS6 | c.1164C= (p.Cys388=) c.1191C= (p.Cys397=) c.177C= (p.Cys59=) c.732C= (p.Cys244=) | |
22 | g.37084327G>T | CA411424242 | TMPRSS6 | c.1164C>A (p.Cys388Ter) c.1191C>A (p.Cys397Ter) c.177C>A (p.Cys59Ter) c.732C>A (p.Cys244Ter) | |
22 | g.37084328C>A | CA411424244 | TMPRSS6 | c.1163G>T (p.Cys388Phe) c.1190G>T (p.Cys397Phe) c.176G>T (p.Cys59Phe) c.731G>T (p.Cys244Phe) | |
22 | g.37084328C= | CA2404175872 | TMPRSS6 | c.1163G= (p.Cys388=) c.1190G= (p.Cys397=) c.176G= (p.Cys59=) c.731G= (p.Cys244=) | |
22 | g.37084328C>G | CA411424245 | TMPRSS6 | c.1163G>C (p.Cys388Ser) c.1190G>C (p.Cys397Ser) c.176G>C (p.Cys59Ser) c.731G>C (p.Cys244Ser) | |
22 | g.37084328C>T | CA324060167 | TMPRSS6 | c.1163G>A (p.Cys388Tyr) c.1190G>A (p.Cys397Tyr) c.176G>A (p.Cys59Tyr) c.731G>A (p.Cys244Tyr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084329A>C | CA411424252 | TMPRSS6 | c.1162T>G (p.Cys388Gly) c.1189T>G (p.Cys397Gly) c.175T>G (p.Cys59Gly) c.730T>G (p.Cys244Gly) | |
22 | g.37084329A>G | CA411424250 | TMPRSS6 | c.1162T>C (p.Cys388Arg) c.1189T>C (p.Cys397Arg) c.175T>C (p.Cys59Arg) c.730T>C (p.Cys244Arg) | gnomAD v4 |
22 | g.37084329A>T | CA411424248 | TMPRSS6 | c.1162T>A (p.Cys388Ser) c.1189T>A (p.Cys397Ser) c.175T>A (p.Cys59Ser) c.730T>A (p.Cys244Ser) | |
22 | g.37084330C>A | CA514485430 | TMPRSS6 | c.1161G>T (p.Pro387=) c.1188G>T (p.Pro396=) c.174G>T (p.Pro58=) c.729G>T (p.Pro243=) | gnomAD v4 |
22 | g.37084330C= | CA2404175873 | TMPRSS6 | c.1161G= (p.Pro387=) c.1188G= (p.Pro396=) c.174G= (p.Pro58=) c.729G= (p.Pro243=) | |
22 | g.37084330C>G | CA514485432 | TMPRSS6 | c.1161G>C (p.Pro387=) c.1188G>C (p.Pro396=) c.174G>C (p.Pro58=) c.729G>C (p.Pro243=) | |
22 | g.37084330C>T | CA10215750 | TMPRSS6 | c.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 |
22 | g.37084331G>A | CA10215751 | TMPRSS6 | c.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 |
22 | g.37084331G>C | CA411424256 | TMPRSS6 | c.1160C>G (p.Pro387Arg) c.1187C>G (p.Pro396Arg) c.173C>G (p.Pro58Arg) c.728C>G (p.Pro243Arg) | gnomAD v4 |
22 | g.37084331G= | CA2404175874 | TMPRSS6 | c.1160C= (p.Pro387=) c.1187C= (p.Pro396=) c.173C= (p.Pro58=) c.728C= (p.Pro243=) | |
22 | g.37084331G>T | CA411424258 | TMPRSS6 | c.1160C>A (p.Pro387Gln) c.1187C>A (p.Pro396Gln) c.173C>A (p.Pro58Gln) c.728C>A (p.Pro243Gln) | gnomAD v4 |
22 | g.37084332G>A | CA411424260 | TMPRSS6 | c.1159C>T (p.Pro387Ser) c.1186C>T (p.Pro396Ser) c.172C>T (p.Pro58Ser) c.727C>T (p.Pro243Ser) | gnomAD v4 |
22 | g.37084332G>C | CA411424261 | TMPRSS6 | c.1159C>G (p.Pro387Ala) c.1186C>G (p.Pro396Ala) c.172C>G (p.Pro58Ala) c.727C>G (p.Pro243Ala) | |
22 | g.37084332G>T | CA411424263 | TMPRSS6 | c.1159C>A (p.Pro387Thr) c.1186C>A (p.Pro396Thr) c.172C>A (p.Pro58Thr) c.727C>A (p.Pro243Thr) | |
22 | g.37084333C>A | CA411424265 | TMPRSS6 | c.1158G>T (p.Leu386Phe) c.1185G>T (p.Leu395Phe) c.171G>T (p.Leu57Phe) c.726G>T (p.Leu242Phe) | |
22 | g.37084333C>G | CA411424267 | TMPRSS6 | c.1158G>C (p.Leu386Phe) c.1185G>C (p.Leu395Phe) c.171G>C (p.Leu57Phe) c.726G>C (p.Leu242Phe) | |
22 | g.37084333C>T | CA514485458 | TMPRSS6 | c.1158G>A (p.Leu386=) c.1185G>A (p.Leu395=) c.171G>A (p.Leu57=) c.726G>A (p.Leu242=) | |
22 | g.37084334A>C | CA411424269 | TMPRSS6 | c.1157T>G (p.Leu386Trp) c.1184T>G (p.Leu395Trp) c.170T>G (p.Leu57Trp) c.725T>G (p.Leu242Trp) | |
22 | g.37084334A>G | CA411424270 | TMPRSS6 | c.1157T>C (p.Leu386Ser) c.1184T>C (p.Leu395Ser) c.170T>C (p.Leu57Ser) c.725T>C (p.Leu242Ser) | |
22 | g.37084334A>T | CA411424272 | TMPRSS6 | c.1157T>A (p.Leu386Ter) c.1184T>A (p.Leu395Ter) c.170T>A (p.Leu57Ter) c.725T>A (p.Leu242Ter) | |
22 | g.37084335A= | CA2404175875 | TMPRSS6 | c.1156T= (p.Leu386=) c.1183T= (p.Leu395=) c.169T= (p.Leu57=) c.724T= (p.Leu242=) | |
22 | g.37084335A>C | CA411424275 | TMPRSS6 | c.1156T>G (p.Leu386Val) c.1183T>G (p.Leu395Val) c.169T>G (p.Leu57Val) c.724T>G (p.Leu242Val) | |
22 | g.37084335A>G | CA10215752 | TMPRSS6 | c.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 |
22 | g.37084335A>T | CA411424274 | TMPRSS6 | c.1156T>A (p.Leu386Met) c.1183T>A (p.Leu395Met) c.169T>A (p.Leu57Met) c.724T>A (p.Leu242Met) | gnomAD v4 |
22 | g.37084336A= | CA2404175876 | TMPRSS6 | c.1155T= (p.Asp385=) c.1182T= (p.Asp394=) c.168T= (p.Asp56=) c.723T= (p.Asp241=) | |
22 | g.37084336A>C | CA411424277 | TMPRSS6 | c.1155T>G (p.Asp385Glu) c.1182T>G (p.Asp394Glu) c.168T>G (p.Asp56Glu) c.723T>G (p.Asp241Glu) | |
22 | g.37084336A>G | CA514485471 | TMPRSS6 | c.1155T>C (p.Asp385=) c.1182T>C (p.Asp394=) c.168T>C (p.Asp56=) c.723T>C (p.Asp241=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084336A>T | CA411424279 | TMPRSS6 | c.1155T>A (p.Asp385Glu) c.1182T>A (p.Asp394Glu) c.168T>A (p.Asp56Glu) c.723T>A (p.Asp241Glu) | COSMIC COSMIC COSMIC |
22 | g.37084337T>A | CA10215753 | TMPRSS6 | c.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 |
22 | g.37084337T>C | CA411424282 | TMPRSS6 | c.1154A>G (p.Asp385Gly) c.1181A>G (p.Asp394Gly) c.167A>G (p.Asp56Gly) c.722A>G (p.Asp241Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084337T>G | CA411424284 | TMPRSS6 | c.1154A>C (p.Asp385Ala) c.1181A>C (p.Asp394Ala) c.167A>C (p.Asp56Ala) c.722A>C (p.Asp241Ala) | |
22 | g.37084337T= | CA2404175877 | TMPRSS6 | c.1154A= (p.Asp385=) c.1181A= (p.Asp394=) c.167A= (p.Asp56=) c.722A= (p.Asp241=) | |
22 | g.37084338C>A | CA411424286 | TMPRSS6 | c.1153G>T (p.Asp385Tyr) c.1180G>T (p.Asp394Tyr) c.166G>T (p.Asp56Tyr) c.721G>T (p.Asp241Tyr) | |
22 | g.37084338C= | CA2404175878 | TMPRSS6 | c.1153G= (p.Asp385=) c.1180G= (p.Asp394=) c.166G= (p.Asp56=) c.721G= (p.Asp241=) | |
22 | g.37084338C>G | CA411424287 | TMPRSS6 | c.1153G>C (p.Asp385His) c.1180G>C (p.Asp394His) c.166G>C (p.Asp56His) c.721G>C (p.Asp241His) | |
22 | g.37084338C>T | CA324060185 | TMPRSS6 | c.1153G>A (p.Asp385Asn) c.1180G>A (p.Asp394Asn) c.166G>A (p.Asp56Asn) c.721G>A (p.Asp241Asn) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084339A= | CA2404175879 | TMPRSS6 | c.1152T= (p.Tyr384=) c.1179T= (p.Tyr393=) c.165T= (p.Tyr55=) c.720T= (p.Tyr240=) | |
22 | g.37084339A>C | CA114993 | TMPRSS6 | c.1152T>G (p.Tyr384Ter) c.1179T>G (p.Tyr393Ter) c.165T>G (p.Tyr55Ter) c.720T>G (p.Tyr240Ter) | ClinVar dbSNP gnomAD v4 |
22 | g.37084339A>G | CA514485513 | TMPRSS6 | c.1152T>C (p.Tyr384=) c.1179T>C (p.Tyr393=) c.165T>C (p.Tyr55=) c.720T>C (p.Tyr240=) | |
22 | g.37084339A>T | CA411424291 | TMPRSS6 | c.1152T>A (p.Tyr384Ter) c.1179T>A (p.Tyr393Ter) c.165T>A (p.Tyr55Ter) c.720T>A (p.Tyr240Ter) | |
22 | g.37084340T>A | CA411424293 | TMPRSS6 | c.1151A>T (p.Tyr384Phe) c.1178A>T (p.Tyr393Phe) c.164A>T (p.Tyr55Phe) c.719A>T (p.Tyr240Phe) | |
22 | g.37084340T>C | CA411424294 | TMPRSS6 | c.1151A>G (p.Tyr384Cys) c.1178A>G (p.Tyr393Cys) c.164A>G (p.Tyr55Cys) c.719A>G (p.Tyr240Cys) | |
22 | g.37084340T>G | CA411424296 | TMPRSS6 | c.1151A>C (p.Tyr384Ser) c.1178A>C (p.Tyr393Ser) c.164A>C (p.Tyr55Ser) c.719A>C (p.Tyr240Ser) | |
22 | g.37084341A>C | CA411424302 | TMPRSS6 | c.1150T>G (p.Tyr384Asp) c.1177T>G (p.Tyr393Asp) c.163T>G (p.Tyr55Asp) c.718T>G (p.Tyr240Asp) | |
22 | g.37084341A>G | CA411424301 | TMPRSS6 | c.1150T>C (p.Tyr384His) c.1177T>C (p.Tyr393His) c.163T>C (p.Tyr55His) c.718T>C (p.Tyr240His) | gnomAD v4 |
22 | g.37084341A>T | CA411424299 | TMPRSS6 | c.1150T>A (p.Tyr384Asn) c.1177T>A (p.Tyr393Asn) c.163T>A (p.Tyr55Asn) c.718T>A (p.Tyr240Asn) | |
22 | g.37084342C>A | CA411424305 | TMPRSS6 | c.1149G>T (p.Lys383Asn) c.1176G>T (p.Lys392Asn) c.162G>T (p.Lys54Asn) c.717G>T (p.Lys239Asn) | |
22 | g.37084342C= | CA2404175880 | TMPRSS6 | c.1149G= (p.Lys383=) c.1176G= (p.Lys392=) c.162G= (p.Lys54=) c.717G= (p.Lys239=) | |
22 | g.37084342C>G | CA411424308 | TMPRSS6 | c.1149G>C (p.Lys383Asn) c.1176G>C (p.Lys392Asn) c.162G>C (p.Lys54Asn) c.717G>C (p.Lys239Asn) | dbSNP gnomAD v4 |
22 | g.37084342C>T | CA10215754 | TMPRSS6 | c.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 |
22 | g.37084343T>A | CA411424311 | TMPRSS6 | c.1148A>T (p.Lys383Met) c.1175A>T (p.Lys392Met) c.161A>T (p.Lys54Met) c.716A>T (p.Lys239Met) | |
22 | g.37084343T>C | CA411424313 | TMPRSS6 | c.1148A>G (p.Lys383Arg) c.1175A>G (p.Lys392Arg) c.161A>G (p.Lys54Arg) c.716A>G (p.Lys239Arg) | |
22 | g.37084343T>G | CA411424314 | TMPRSS6 | c.1148A>C (p.Lys383Thr) c.1175A>C (p.Lys392Thr) c.161A>C (p.Lys54Thr) c.716A>C (p.Lys239Thr) | |
22 | g.37084344T>A | CA411424316 | TMPRSS6 | c.1147A>T (p.Lys383Ter) c.1174A>T (p.Lys392Ter) c.160A>T (p.Lys54Ter) c.715A>T (p.Lys239Ter) | |
22 | g.37084344T>C | CA411424318 | TMPRSS6 | c.1147A>G (p.Lys383Glu) c.1174A>G (p.Lys392Glu) c.160A>G (p.Lys54Glu) c.715A>G (p.Lys239Glu) | |
22 | g.37084344T>G | CA411424320 | TMPRSS6 | c.1147A>C (p.Lys383Gln) c.1174A>C (p.Lys392Gln) c.160A>C (p.Lys54Gln) c.715A>C (p.Lys239Gln) | |
22 | g.37084345C>A | CA411424322 | TMPRSS6 | c.1146G>T (p.Gln382His) c.1173G>T (p.Gln391His) c.159G>T (p.Gln53His) c.714G>T (p.Gln238His) | |
22 | g.37084345C= | CA2404175881 | TMPRSS6 | c.1146G= (p.Gln382=) c.1173G= (p.Gln391=) c.159G= (p.Gln53=) c.714G= (p.Gln238=) | |
22 | g.37084345C>G | CA411424324 | TMPRSS6 | c.1146G>C (p.Gln382His) c.1173G>C (p.Gln391His) c.159G>C (p.Gln53His) c.714G>C (p.Gln238His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084345C>T | CA514485540 | TMPRSS6 | c.1146G>A (p.Gln382=) c.1173G>A (p.Gln391=) c.159G>A (p.Gln53=) c.714G>A (p.Gln238=) | dbSNP |
22 | g.37084346T>A | CA411424326 | TMPRSS6 | c.1145A>T (p.Gln382Leu) c.1172A>T (p.Gln391Leu) c.158A>T (p.Gln53Leu) c.713A>T (p.Gln238Leu) | |
22 | g.37084346T>C | CA10215755 | TMPRSS6 | c.1145A>G (p.Gln382Arg) c.1172A>G (p.Gln391Arg) c.158A>G (p.Gln53Arg) c.713A>G (p.Gln238Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084346T>G | CA411424328 | TMPRSS6 | c.1145A>C (p.Gln382Pro) c.1172A>C (p.Gln391Pro) c.158A>C (p.Gln53Pro) c.713A>C (p.Gln238Pro) | |
22 | g.37084346T= | CA2404175882 | TMPRSS6 | c.1145A= (p.Gln382=) c.1172A= (p.Gln391=) c.158A= (p.Gln53=) c.713A= (p.Gln238=) |