Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37084775G>A | CA514486585 | TMPRSS6 | c.1038C>T (p.Tyr346=) c.1065C>T (p.Tyr355=) c.51C>T (p.Tyr17=) c.606C>T (p.Tyr202=) | gnomAD v4 |
22 | g.37084775G>C | CA411424769 | TMPRSS6 | c.1038C>G (p.Tyr346Ter) c.1065C>G (p.Tyr355Ter) c.51C>G (p.Tyr17Ter) c.606C>G (p.Tyr202Ter) | |
22 | g.37084775G= | CA2404176111 | TMPRSS6 | c.1038C= (p.Tyr346=) c.1065C= (p.Tyr355=) c.51C= (p.Tyr17=) c.606C= (p.Tyr202=) | |
22 | g.37084775G>T | CA114991 | TMPRSS6 | c.1038C>A (p.Tyr346Ter) c.1065C>A (p.Tyr355Ter) c.51C>A (p.Tyr17Ter) c.606C>A (p.Tyr202Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084776T>A | CA411424772 | TMPRSS6 | c.1037A>T (p.Tyr346Phe) c.1064A>T (p.Tyr355Phe) c.50A>T (p.Tyr17Phe) c.605A>T (p.Tyr202Phe) | |
22 | g.37084776T>C | CA411424773 | TMPRSS6 | c.1037A>G (p.Tyr346Cys) c.1064A>G (p.Tyr355Cys) c.50A>G (p.Tyr17Cys) c.605A>G (p.Tyr202Cys) | gnomAD v4 |
22 | g.37084776T>G | CA411424774 | TMPRSS6 | c.1037A>C (p.Tyr346Ser) c.1064A>C (p.Tyr355Ser) c.50A>C (p.Tyr17Ser) c.605A>C (p.Tyr202Ser) | |
22 | g.37084777A>C | CA411424777 | TMPRSS6 | c.1036T>G (p.Tyr346Asp) c.1063T>G (p.Tyr355Asp) c.49T>G (p.Tyr17Asp) c.604T>G (p.Tyr202Asp) | |
22 | g.37084777A>G | CA411424778 | TMPRSS6 | c.1036T>C (p.Tyr346His) c.1063T>C (p.Tyr355His) c.49T>C (p.Tyr17His) c.604T>C (p.Tyr202His) | gnomAD v4 COSMIC COSMIC COSMIC |
22 | g.37084777A>T | CA411424780 | TMPRSS6 | c.1036T>A (p.Tyr346Asn) c.1063T>A (p.Tyr355Asn) c.49T>A (p.Tyr17Asn) c.604T>A (p.Tyr202Asn) | |
22 | g.37084777_37084778delinsAC | CA2404176112 | TMPRSS6 | c.1035_1036delinsGT (p.Pro345=) c.1062_1063delinsGT (p.Pro354=) c.48_49delinsGT (p.Pro16=) c.603_604delinsGT (p.Pro201=) | |
22 | g.37084778del | CA2404176113 | TMPRSS6 | c.1035del (p.Tyr346ThrfsTer?) c.1062del (p.Tyr355ThrfsTer?) c.48del (p.Tyr17ThrfsTer?) c.603del (p.Tyr202ThrfsTer?) | dbSNP gnomAD v4 |
22 | g.37084778C>A | CA514486617 | TMPRSS6 | c.1035G>T (p.Pro345=) c.1062G>T (p.Pro354=) c.48G>T (p.Pro16=) c.603G>T (p.Pro201=) | gnomAD v4 |
22 | g.37084778C= | CA2404176114 | TMPRSS6 | c.1035G= (p.Pro345=) c.1062G= (p.Pro354=) c.48G= (p.Pro16=) c.603G= (p.Pro201=) | |
22 | g.37084778C>G | CA514486619 | TMPRSS6 | c.1035G>C (p.Pro345=) c.1062G>C (p.Pro354=) c.48G>C (p.Pro16=) c.603G>C (p.Pro201=) | |
22 | g.37084778C>T | CA10215803 | TMPRSS6 | c.1035G>A (p.Pro345=) c.1062G>A (p.Pro354=) c.48G>A (p.Pro16=) c.603G>A (p.Pro201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.37084779G>A | CA10215804 | TMPRSS6 | c.1034C>T (p.Pro345Leu) c.1061C>T (p.Pro354Leu) c.47C>T (p.Pro16Leu) c.602C>T (p.Pro201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
22 | g.37084779G>C | CA411424784 | TMPRSS6 | c.1034C>G (p.Pro345Arg) c.1061C>G (p.Pro354Arg) c.47C>G (p.Pro16Arg) c.602C>G (p.Pro201Arg) | |
22 | g.37084779G= | CA2404176115 | TMPRSS6 | c.1034C= (p.Pro345=) c.1061C= (p.Pro354=) c.47C= (p.Pro16=) c.602C= (p.Pro201=) | |
22 | g.37084779G>T | CA411424782 | TMPRSS6 | c.1034C>A (p.Pro345Gln) c.1061C>A (p.Pro354Gln) c.47C>A (p.Pro16Gln) c.602C>A (p.Pro201Gln) | gnomAD v4 |
22 | g.37084782del | CA2656466846 | TMPRSS6 | c.1034del (p.Pro345ArgfsTer?) c.1061del (p.Pro354ArgfsTer?) c.47del (p.Pro16ArgfsTer?) c.602del (p.Pro201ArgfsTer?) | gnomAD v4 |
22 | g.37084780G>A | CA324060514 | TMPRSS6 | c.1033C>T (p.Pro345Ser) c.1060C>T (p.Pro354Ser) c.46C>T (p.Pro16Ser) c.601C>T (p.Pro201Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084780G>C | CA411424787 | TMPRSS6 | c.1033C>G (p.Pro345Ala) c.1060C>G (p.Pro354Ala) c.46C>G (p.Pro16Ala) c.601C>G (p.Pro201Ala) | |
22 | g.37084780G= | CA2404176116 | TMPRSS6 | c.1033C= (p.Pro345=) c.1060C= (p.Pro354=) c.46C= (p.Pro16=) c.601C= (p.Pro201=) | |
22 | g.37084780G>T | CA411424788 | TMPRSS6 | c.1033C>A (p.Pro345Thr) c.1060C>A (p.Pro354Thr) c.46C>A (p.Pro16Thr) c.601C>A (p.Pro201Thr) | gnomAD v4 |
22 | g.37084781G>A | CA514486630 | TMPRSS6 | c.1032C>T (p.Thr344=) c.1059C>T (p.Thr353=) c.45C>T (p.Thr15=) c.600C>T (p.Thr200=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084781G>C | CA514486632 | TMPRSS6 | c.1032C>G (p.Thr344=) c.1059C>G (p.Thr353=) c.45C>G (p.Thr15=) c.600C>G (p.Thr200=) | gnomAD v4 |
22 | g.37084781G= | CA2404176117 | TMPRSS6 | c.1032C= (p.Thr344=) c.1059C= (p.Thr353=) c.45C= (p.Thr15=) c.600C= (p.Thr200=) | |
22 | g.37084781G>T | CA514486634 | TMPRSS6 | c.1032C>A (p.Thr344=) c.1059C>A (p.Thr353=) c.45C>A (p.Thr15=) c.600C>A (p.Thr200=) | gnomAD v4 |
22 | g.37084782G>A | CA411424790 | TMPRSS6 | c.1031C>T (p.Thr344Ile) c.1058C>T (p.Thr353Ile) c.44C>T (p.Thr15Ile) c.599C>T (p.Thr200Ile) | gnomAD v4 |
22 | g.37084782G>C | CA411424792 | TMPRSS6 | c.1031C>G (p.Thr344Ser) c.1058C>G (p.Thr353Ser) c.44C>G (p.Thr15Ser) c.599C>G (p.Thr200Ser) | |
22 | g.37084782G>T | CA411424793 | TMPRSS6 | c.1031C>A (p.Thr344Asn) c.1058C>A (p.Thr353Asn) c.44C>A (p.Thr15Asn) c.599C>A (p.Thr200Asn) | gnomAD v4 |
22 | g.37084782_37084783insA | CA2656466847 | TMPRSS6 | c.1030_1031insT (p.Thr344IlefsTer?) c.1057_1058insT (p.Thr353IlefsTer?) c.43_44insT (p.Thr15IlefsTer?) c.598_599insT (p.Thr200IlefsTer?) | gnomAD v4 |
22 | g.37084783T>A | CA411424795 | TMPRSS6 | c.1030A>T (p.Thr344Ser) c.1057A>T (p.Thr353Ser) c.43A>T (p.Thr15Ser) c.598A>T (p.Thr200Ser) | gnomAD v4 |
22 | g.37084783T>C | CA411424797 | TMPRSS6 | c.1030A>G (p.Thr344Ala) c.1057A>G (p.Thr353Ala) c.43A>G (p.Thr15Ala) c.598A>G (p.Thr200Ala) | gnomAD v4 |
22 | g.37084783T>G | CA411424798 | TMPRSS6 | c.1030A>C (p.Thr344Pro) c.1057A>C (p.Thr353Pro) c.43A>C (p.Thr15Pro) c.598A>C (p.Thr200Pro) | dbSNP gnomAD v4 |
22 | g.37084783T= | CA2404176118 | TMPRSS6 | c.1030A= (p.Thr344=) c.1057A= (p.Thr353=) c.43A= (p.Thr15=) c.598A= (p.Thr200=) | |
22 | g.37084784G>A | CA514486643 | TMPRSS6 | c.1029C>T (p.Ser343=) c.1056C>T (p.Ser352=) c.42C>T (p.Ser14=) c.597C>T (p.Ser199=) | gnomAD v4 |
22 | g.37084784G>C | CA411424799 | TMPRSS6 | c.1029C>G (p.Ser343Arg) c.1056C>G (p.Ser352Arg) c.42C>G (p.Ser14Arg) c.597C>G (p.Ser199Arg) | |
22 | g.37084784G>T | CA411424801 | TMPRSS6 | c.1029C>A (p.Ser343Arg) c.1056C>A (p.Ser352Arg) c.42C>A (p.Ser14Arg) c.597C>A (p.Ser199Arg) | gnomAD v4 |
22 | g.37084785C>A | CA411424804 | TMPRSS6 | c.1028G>T (p.Ser343Ile) c.1055G>T (p.Ser352Ile) c.41G>T (p.Ser14Ile) c.596G>T (p.Ser199Ile) | gnomAD v4 |
22 | g.37084785C>G | CA411424806 | TMPRSS6 | c.1028G>C (p.Ser343Thr) c.1055G>C (p.Ser352Thr) c.41G>C (p.Ser14Thr) c.596G>C (p.Ser199Thr) | |
22 | g.37084785C>T | CA411424803 | TMPRSS6 | c.1028G>A (p.Ser343Asn) c.1055G>A (p.Ser352Asn) c.41G>A (p.Ser14Asn) c.596G>A (p.Ser199Asn) | gnomAD v4 |
22 | g.37084786T>A | CA411424808 | TMPRSS6 | c.1027A>T (p.Ser343Cys) c.1054A>T (p.Ser352Cys) c.40A>T (p.Ser14Cys) c.595A>T (p.Ser199Cys) | gnomAD v4 |
22 | g.37084786T>C | CA411424809 | TMPRSS6 | c.1027A>G (p.Ser343Gly) c.1054A>G (p.Ser352Gly) c.40A>G (p.Ser14Gly) c.595A>G (p.Ser199Gly) | gnomAD v4 |
22 | g.37084786T>G | CA411424811 | TMPRSS6 | c.1027A>C (p.Ser343Arg) c.1054A>C (p.Ser352Arg) c.40A>C (p.Ser14Arg) c.595A>C (p.Ser199Arg) | |
22 | g.37084787G>A | CA514486660 | TMPRSS6 | c.1026C>T (p.Leu342=) c.1053C>T (p.Leu351=) c.39C>T (p.Leu13=) c.594C>T (p.Leu198=) | gnomAD v4 |
22 | g.37084787G>C | CA514486661 | TMPRSS6 | c.1026C>G (p.Leu342=) c.1053C>G (p.Leu351=) c.39C>G (p.Leu13=) c.594C>G (p.Leu198=) | gnomAD v4 |
22 | g.37084787G>T | CA514486662 | TMPRSS6 | c.1026C>A (p.Leu342=) c.1053C>A (p.Leu351=) c.39C>A (p.Leu13=) c.594C>A (p.Leu198=) | gnomAD v4 |
22 | g.37084788A>C | CA411424813 | TMPRSS6 | c.1025T>G (p.Leu342Arg) c.1052T>G (p.Leu351Arg) c.38T>G (p.Leu13Arg) c.593T>G (p.Leu198Arg) | |
22 | g.37084788A>G | CA411424814 | TMPRSS6 | c.1025T>C (p.Leu342Pro) c.1052T>C (p.Leu351Pro) c.38T>C (p.Leu13Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
22 | g.37084788A>T | CA411424816 | TMPRSS6 | c.1025T>A (p.Leu342His) c.1052T>A (p.Leu351His) c.38T>A (p.Leu13His) c.593T>A (p.Leu198His) | gnomAD v4 |
22 | g.37084789G>A | CA411424819 | TMPRSS6 | c.1024C>T (p.Leu342Phe) c.1051C>T (p.Leu351Phe) c.37C>T (p.Leu13Phe) c.592C>T (p.Leu198Phe) | |
22 | g.37084789G>C | CA411424820 | TMPRSS6 | c.1024C>G (p.Leu342Val) c.1051C>G (p.Leu351Val) c.37C>G (p.Leu13Val) c.592C>G (p.Leu198Val) | |
22 | g.37084789G>T | CA411424822 | TMPRSS6 | c.1024C>A (p.Leu342Ile) c.1051C>A (p.Leu351Ile) c.37C>A (p.Leu13Ile) c.592C>A (p.Leu198Ile) | gnomAD v4 |
22 | g.37084790G>A | CA514486669 | TMPRSS6 | c.1023C>T (p.Val341=) c.1050C>T (p.Val350=) c.36C>T (p.Val12=) c.591C>T (p.Val197=) | gnomAD v4 |
22 | g.37084790G>C | CA514486671 | TMPRSS6 | c.1023C>G (p.Val341=) c.1050C>G (p.Val350=) c.36C>G (p.Val12=) c.591C>G (p.Val197=) | gnomAD v4 |
22 | g.37084790G>T | CA514486673 | TMPRSS6 | c.1023C>A (p.Val341=) c.1050C>A (p.Val350=) c.36C>A (p.Val12=) c.591C>A (p.Val197=) | gnomAD v4 |
22 | g.37084791A>C | CA411424824 | TMPRSS6 | c.1022T>G (p.Val341Gly) c.1049T>G (p.Val350Gly) c.35T>G (p.Val12Gly) c.590T>G (p.Val197Gly) | |
22 | g.37084791A>G | CA411424826 | TMPRSS6 | c.1022T>C (p.Val341Ala) c.1049T>C (p.Val350Ala) c.35T>C (p.Val12Ala) c.590T>C (p.Val197Ala) | gnomAD v4 |
22 | g.37084791A>T | CA411424827 | TMPRSS6 | c.1022T>A (p.Val341Asp) c.1049T>A (p.Val350Asp) c.35T>A (p.Val12Asp) c.590T>A (p.Val197Asp) | |
22 | g.37084792C>A | CA411424831 | TMPRSS6 | c.1021G>T (p.Val341Phe) c.1048G>T (p.Val350Phe) c.34G>T (p.Val12Phe) c.589G>T (p.Val197Phe) | dbSNP gnomAD v4 |
22 | g.37084792C= | CA2404176119 | TMPRSS6 | c.1021G= (p.Val341=) c.1048G= (p.Val350=) c.34G= (p.Val12=) c.589G= (p.Val197=) | |
22 | g.37084792C>G | CA10215806 | TMPRSS6 | c.1021G>C (p.Val341Leu) c.1048G>C (p.Val350Leu) c.34G>C (p.Val12Leu) c.589G>C (p.Val197Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084792C>T | CA10215805 | TMPRSS6 | c.1021G>A (p.Val341Ile) c.1048G>A (p.Val350Ile) c.34G>A (p.Val12Ile) c.589G>A (p.Val197Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
22 | g.37084793G>A | CA10215807 | TMPRSS6 | c.1020C>T (p.Gly340=) c.1047C>T (p.Gly349=) c.33C>T (p.Gly11=) c.588C>T (p.Gly196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084793G>C | CA514486691 | TMPRSS6 | c.1020C>G (p.Gly340=) c.1047C>G (p.Gly349=) c.33C>G (p.Gly11=) c.588C>G (p.Gly196=) | gnomAD v4 |
22 | g.37084793G= | CA2404176120 | TMPRSS6 | c.1020C= (p.Gly340=) c.1047C= (p.Gly349=) c.33C= (p.Gly11=) c.588C= (p.Gly196=) | |
22 | g.37084793G>T | CA514486694 | TMPRSS6 | c.1020C>A (p.Gly340=) c.1047C>A (p.Gly349=) c.33C>A (p.Gly11=) c.588C>A (p.Gly196=) | gnomAD v4 |
22 | g.37084794C>A | CA411424834 | TMPRSS6 | c.1019G>T (p.Gly340Val) c.1046G>T (p.Gly349Val) c.32G>T (p.Gly11Val) c.587G>T (p.Gly196Val) | gnomAD v4 |
22 | g.37084794C= | CA2404176121 | TMPRSS6 | c.1019G= (p.Gly340=) c.1046G= (p.Gly349=) c.32G= (p.Gly11=) c.587G= (p.Gly196=) | |
22 | g.37084794C>G | CA411424836 | TMPRSS6 | c.1019G>C (p.Gly340Ala) c.1046G>C (p.Gly349Ala) c.32G>C (p.Gly11Ala) c.587G>C (p.Gly196Ala) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084794C>T | CA411424837 | TMPRSS6 | c.1019G>A (p.Gly340Asp) c.1046G>A (p.Gly349Asp) c.32G>A (p.Gly11Asp) c.587G>A (p.Gly196Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084796dup | CA2656466848 | TMPRSS6 | c.1019dup (p.Val341ArgfsTer?) c.1046dup (p.Val350ArgfsTer?) c.32dup (p.Val12ArgfsTer?) c.587dup (p.Val197ArgfsTer?) | gnomAD v4 |
22 | g.37084795C>A | CA411424839 | TMPRSS6 | c.1018G>T (p.Gly340Cys) c.1045G>T (p.Gly349Cys) c.31G>T (p.Gly11Cys) c.586G>T (p.Gly196Cys) | gnomAD v4 |
22 | g.37084795C= | CA2404176122 | TMPRSS6 | c.1018G= (p.Gly340=) c.1045G= (p.Gly349=) c.31G= (p.Gly11=) c.586G= (p.Gly196=) | |
22 | g.37084795C>G | CA411424841 | TMPRSS6 | c.1018G>C (p.Gly340Arg) c.1045G>C (p.Gly349Arg) c.31G>C (p.Gly11Arg) c.586G>C (p.Gly196Arg) | |
22 | g.37084795C>T | CA411424842 | TMPRSS6 | c.1018G>A (p.Gly340Ser) c.1045G>A (p.Gly349Ser) c.31G>A (p.Gly11Ser) c.586G>A (p.Gly196Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084796C>A | CA324060517 | TMPRSS6 | c.1017G>T (p.Gln339His) c.1044G>T (p.Gln348His) c.30G>T (p.Gln10His) c.585G>T (p.Gln195His) | dbSNP gnomAD v4 |
22 | g.37084796C= | CA2404176123 | TMPRSS6 | c.1017G= (p.Gln339=) c.1044G= (p.Gln348=) c.30G= (p.Gln10=) c.585G= (p.Gln195=) | |
22 | g.37084796C>G | CA411424843 | TMPRSS6 | c.1017G>C (p.Gln339His) c.1044G>C (p.Gln348His) c.30G>C (p.Gln10His) c.585G>C (p.Gln195His) | |
22 | g.37084796C>T | CA514486710 | TMPRSS6 | c.1017G>A (p.Gln339=) c.1044G>A (p.Gln348=) c.30G>A (p.Gln10=) c.585G>A (p.Gln195=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084797T>A | CA411424845 | TMPRSS6 | c.1016A>T (p.Gln339Leu) c.1043A>T (p.Gln348Leu) c.29A>T (p.Gln10Leu) c.584A>T (p.Gln195Leu) | |
22 | g.37084797T>C | CA411424846 | TMPRSS6 | c.1016A>G (p.Gln339Arg) c.1043A>G (p.Gln348Arg) c.29A>G (p.Gln10Arg) c.584A>G (p.Gln195Arg) | gnomAD v4 |
22 | g.37084797T>G | CA411424847 | TMPRSS6 | c.1016A>C (p.Gln339Pro) c.1043A>C (p.Gln348Pro) c.29A>C (p.Gln10Pro) c.584A>C (p.Gln195Pro) | dbSNP |
22 | g.37084798G>A | CA411424851 | TMPRSS6 | c.1015C>T (p.Gln339Ter) c.1042C>T (p.Gln348Ter) c.28C>T (p.Gln10Ter) c.583C>T (p.Gln195Ter) | gnomAD v4 |
22 | g.37084798G>C | CA411424852 | TMPRSS6 | c.1015C>G (p.Gln339Glu) c.1042C>G (p.Gln348Glu) c.28C>G (p.Gln10Glu) c.583C>G (p.Gln195Glu) | |
22 | g.37084798G>T | CA411424849 | TMPRSS6 | c.1015C>A (p.Gln339Lys) c.1042C>A (p.Gln348Lys) c.28C>A (p.Gln10Lys) c.583C>A (p.Gln195Lys) | gnomAD v4 |
22 | g.37084799G>A | CA10215808 | TMPRSS6 | c.1014C>T (p.Ser338=) c.1041C>T (p.Ser347=) c.27C>T (p.Ser9=) c.582C>T (p.Ser194=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084799G>C | CA514486726 | TMPRSS6 | c.1014C>G (p.Ser338=) c.1041C>G (p.Ser347=) c.27C>G (p.Ser9=) c.582C>G (p.Ser194=) | |
22 | g.37084799G= | CA2404176124 | TMPRSS6 | c.1014C= (p.Ser338=) c.1041C= (p.Ser347=) c.27C= (p.Ser9=) c.582C= (p.Ser194=) | |
22 | g.37084799G>T | CA514486721 | TMPRSS6 | c.1014C>A (p.Ser338=) c.1041C>A (p.Ser347=) c.27C>A (p.Ser9=) c.582C>A (p.Ser194=) | |
22 | g.37084800G>A | CA411424858 | TMPRSS6 | c.1013C>T (p.Ser338Phe) c.1040C>T (p.Ser347Phe) c.26C>T (p.Ser9Phe) c.581C>T (p.Ser194Phe) | |
22 | g.37084800G>C | CA411424860 | TMPRSS6 | c.1013C>G (p.Ser338Cys) c.1040C>G (p.Ser347Cys) c.26C>G (p.Ser9Cys) c.581C>G (p.Ser194Cys) | |
22 | g.37084800G>T | CA411424861 | TMPRSS6 | c.1013C>A (p.Ser338Tyr) c.1040C>A (p.Ser347Tyr) c.26C>A (p.Ser9Tyr) c.581C>A (p.Ser194Tyr) | gnomAD v4 |
22 | g.37084801A= | CA2404176125 | TMPRSS6 | c.1012T= (p.Ser338=) c.1039T= (p.Ser347=) c.25T= (p.Ser9=) c.580T= (p.Ser194=) | |
22 | g.37084801A>C | CA411424864 | TMPRSS6 | c.1012T>G (p.Ser338Ala) c.1039T>G (p.Ser347Ala) c.25T>G (p.Ser9Ala) c.580T>G (p.Ser194Ala) | |
22 | g.37084801A>G | CA411424865 | TMPRSS6 | c.1012T>C (p.Ser338Pro) c.1039T>C (p.Ser347Pro) c.25T>C (p.Ser9Pro) c.580T>C (p.Ser194Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084801A>T | CA411424867 | TMPRSS6 | c.1012T>A (p.Ser338Thr) c.1039T>A (p.Ser347Thr) c.25T>A (p.Ser9Thr) c.580T>A (p.Ser194Thr) | |
22 | g.37084802G>A | CA514486739 | TMPRSS6 | c.1011C>T (p.Asp337=) c.1038C>T (p.Asp346=) c.24C>T (p.Asp8=) c.579C>T (p.Asp193=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084802G>C | CA411424868 | TMPRSS6 | c.1011C>G (p.Asp337Glu) c.1038C>G (p.Asp346Glu) c.24C>G (p.Asp8Glu) c.579C>G (p.Asp193Glu) | |
22 | g.37084802G= | CA2404176126 | TMPRSS6 | c.1011C= (p.Asp337=) c.1038C= (p.Asp346=) c.24C= (p.Asp8=) c.579C= (p.Asp193=) | |
22 | g.37084802G>T | CA411424870 | TMPRSS6 | c.1011C>A (p.Asp337Glu) c.1038C>A (p.Asp346Glu) c.24C>A (p.Asp8Glu) c.579C>A (p.Asp193Glu) | gnomAD v4 |
22 | g.37084803T>A | CA411424872 | TMPRSS6 | c.1010A>T (p.Asp337Val) c.1037A>T (p.Asp346Val) c.23A>T (p.Asp8Val) c.578A>T (p.Asp193Val) | |
22 | g.37084803T>C | CA411424873 | TMPRSS6 | c.1010A>G (p.Asp337Gly) c.1037A>G (p.Asp346Gly) c.23A>G (p.Asp8Gly) c.578A>G (p.Asp193Gly) | |
22 | g.37084803T>G | CA411424875 | TMPRSS6 | c.1010A>C (p.Asp337Ala) c.1037A>C (p.Asp346Ala) c.23A>C (p.Asp8Ala) c.578A>C (p.Asp193Ala) | |
22 | g.37084804C>A | CA411424877 | TMPRSS6 | c.1009G>T (p.Asp337Tyr) c.1036G>T (p.Asp346Tyr) c.22G>T (p.Asp8Tyr) c.577G>T (p.Asp193Tyr) | gnomAD v4 |
22 | g.37084804C= | CA2404176127 | TMPRSS6 | c.1009G= (p.Asp337=) c.1036G= (p.Asp346=) c.22G= (p.Asp8=) c.577G= (p.Asp193=) | |
22 | g.37084804C>G | CA411424879 | TMPRSS6 | c.1009G>C (p.Asp337His) c.1036G>C (p.Asp346His) c.22G>C (p.Asp8His) c.577G>C (p.Asp193His) | |
22 | g.37084804C>T | CA10215809 | TMPRSS6 | c.1009G>A (p.Asp337Asn) c.1036G>A (p.Asp346Asn) c.22G>A (p.Asp8Asn) c.577G>A (p.Asp193Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084805G>A | CA10215810 | TMPRSS6 | c.1008C>T (p.Leu336=) c.1035C>T (p.Leu345=) c.21C>T (p.Leu7=) c.576C>T (p.Leu192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084805G>C | CA514486770 | TMPRSS6 | c.1008C>G (p.Leu336=) c.1035C>G (p.Leu345=) c.21C>G (p.Leu7=) c.576C>G (p.Leu192=) | |
22 | g.37084805G= | CA2404176128 | TMPRSS6 | c.1008C= (p.Leu336=) c.1035C= (p.Leu345=) c.21C= (p.Leu7=) c.576C= (p.Leu192=) | |
22 | g.37084805G>T | CA514486766 | TMPRSS6 | c.1008C>A (p.Leu336=) c.1035C>A (p.Leu345=) c.21C>A (p.Leu7=) c.576C>A (p.Leu192=) | gnomAD v4 |
22 | g.37084806A= | CA2404176129 | TMPRSS6 | c.1007T= (p.Leu336=) c.1034T= (p.Leu345=) c.20T= (p.Leu7=) c.575T= (p.Leu192=) | |
22 | g.37084806A>C | CA10215811 | TMPRSS6 | c.1007T>G (p.Leu336Arg) c.1034T>G (p.Leu345Arg) c.20T>G (p.Leu7Arg) c.575T>G (p.Leu192Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084806A>G | CA411424883 | TMPRSS6 | c.1007T>C (p.Leu336Pro) c.1034T>C (p.Leu345Pro) c.20T>C (p.Leu7Pro) c.575T>C (p.Leu192Pro) | |
22 | g.37084806A>T | CA411424885 | TMPRSS6 | c.1007T>A (p.Leu336His) c.1034T>A (p.Leu345His) c.20T>A (p.Leu7His) c.575T>A (p.Leu192His) | |
22 | g.37084807G>A | CA411424887 | TMPRSS6 | c.1006C>T (p.Leu336Phe) c.1033C>T (p.Leu345Phe) c.19C>T (p.Leu7Phe) c.574C>T (p.Leu192Phe) | gnomAD v4 |
22 | g.37084807G>C | CA411424888 | TMPRSS6 | c.1006C>G (p.Leu336Val) c.1033C>G (p.Leu345Val) c.19C>G (p.Leu7Val) c.574C>G (p.Leu192Val) | |
22 | g.37084807G>T | CA411424889 | TMPRSS6 | c.1006C>A (p.Leu336Ile) c.1033C>A (p.Leu345Ile) c.19C>A (p.Leu7Ile) c.574C>A (p.Leu192Ile) | gnomAD v4 |
22 | g.37084808C>A | CA411424890 | TMPRSS6 | c.1005G>T (p.Arg335Ser) c.1032G>T (p.Arg344Ser) c.18G>T (p.Arg6Ser) c.573G>T (p.Arg191Ser) | gnomAD v4 |
22 | g.37084808C= | CA2404176130 | TMPRSS6 | c.1005G= (p.Arg335=) c.1032G= (p.Arg344=) c.18G= (p.Arg6=) c.573G= (p.Arg191=) | |
22 | g.37084808C>G | CA10215812 | TMPRSS6 | c.1005G>C (p.Arg335Ser) c.1032G>C (p.Arg344Ser) c.18G>C (p.Arg6Ser) c.573G>C (p.Arg191Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084808C>T | CA514486787 | TMPRSS6 | c.1005G>A (p.Arg335=) c.1032G>A (p.Arg344=) c.18G>A (p.Arg6=) c.573G>A (p.Arg191=) | gnomAD v4 |
22 | g.37084809C>A | CA411424893 | TMPRSS6 | c.1004G>T (p.Arg335Met) c.1031G>T (p.Arg344Met) c.17G>T (p.Arg6Met) c.572G>T (p.Arg191Met) | gnomAD v4 |
22 | g.37084809C>G | CA411424895 | TMPRSS6 | c.1004G>C (p.Arg335Thr) c.1031G>C (p.Arg344Thr) c.17G>C (p.Arg6Thr) c.572G>C (p.Arg191Thr) | |
22 | g.37084809C>T | CA411424897 | TMPRSS6 | c.1004G>A (p.Arg335Lys) c.1031G>A (p.Arg344Lys) c.17G>A (p.Arg6Lys) c.572G>A (p.Arg191Lys) | gnomAD v4 |
22 | g.37084810T>A | CA411424899 | TMPRSS6 | c.1003A>T (p.Arg335Trp) c.1030A>T (p.Arg344Trp) c.16A>T (p.Arg6Trp) c.571A>T (p.Arg191Trp) | gnomAD v4 |
22 | g.37084810T>C | CA411424900 | TMPRSS6 | c.1003A>G (p.Arg335Gly) c.1030A>G (p.Arg344Gly) c.16A>G (p.Arg6Gly) c.571A>G (p.Arg191Gly) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084810T>G | CA514486793 | TMPRSS6 | c.1003A>C (p.Arg335=) c.1030A>C (p.Arg344=) c.16A>C (p.Arg6=) c.571A>C (p.Arg191=) | |
22 | g.37084810T= | CA2404176131 | TMPRSS6 | c.1003A= (p.Arg335=) c.1030A= (p.Arg344=) c.16A= (p.Arg6=) c.571A= (p.Arg191=) | |
22 | g.37084811G>A | CA514486795 | TMPRSS6 | c.1002C>T (p.Asn334=) c.1029C>T (p.Asn343=) c.15C>T (p.Asn5=) c.570C>T (p.Asn190=) | gnomAD v4 |
22 | g.37084811G>C | CA411424902 | TMPRSS6 | c.1002C>G (p.Asn334Lys) c.1029C>G (p.Asn343Lys) c.15C>G (p.Asn5Lys) c.570C>G (p.Asn190Lys) | |
22 | g.37084811G= | CA2404176132 | TMPRSS6 | c.1002C= (p.Asn334=) c.1029C= (p.Asn343=) c.15C= (p.Asn5=) c.570C= (p.Asn190=) | |
22 | g.37084811G>T | CA411424904 | TMPRSS6 | c.1002C>A (p.Asn334Lys) c.1029C>A (p.Asn343Lys) c.15C>A (p.Asn5Lys) c.570C>A (p.Asn190Lys) | dbSNP gnomAD v2 |
22 | g.37084812T>A | CA411424906 | TMPRSS6 | c.1001A>T (p.Asn334Ile) c.1028A>T (p.Asn343Ile) c.14A>T (p.Asn5Ile) c.569A>T (p.Asn190Ile) | |
22 | g.37084812T>C | CA411424908 | TMPRSS6 | c.1001A>G (p.Asn334Ser) c.1028A>G (p.Asn343Ser) c.14A>G (p.Asn5Ser) c.569A>G (p.Asn190Ser) | |
22 | g.37084812T>G | CA411424910 | TMPRSS6 | c.1001A>C (p.Asn334Thr) c.1028A>C (p.Asn343Thr) c.14A>C (p.Asn5Thr) c.569A>C (p.Asn190Thr) | |
22 | g.37084813T>A | CA411424912 | TMPRSS6 | c.1000A>T (p.Asn334Tyr) c.1027A>T (p.Asn343Tyr) c.13A>T (p.Asn5Tyr) c.568A>T (p.Asn190Tyr) | |
22 | g.37084813T>C | CA411424913 | TMPRSS6 | c.1000A>G (p.Asn334Asp) c.1027A>G (p.Asn343Asp) c.13A>G (p.Asn5Asp) c.568A>G (p.Asn190Asp) | |
22 | g.37084813T>G | CA411424914 | TMPRSS6 | c.1000A>C (p.Asn334His) c.1027A>C (p.Asn343His) c.13A>C (p.Asn5His) c.568A>C (p.Asn190His) | |
22 | g.37084814G>A | CA514486823 | TMPRSS6 | c.999C>T (p.Asp333=) c.1026C>T (p.Asp342=) c.12C>T (p.Asp4=) c.567C>T (p.Asp189=) | gnomAD v4 |
22 | g.37084814G>C | CA411424918 | TMPRSS6 | c.999C>G (p.Asp333Glu) c.1026C>G (p.Asp342Glu) c.12C>G (p.Asp4Glu) c.567C>G (p.Asp189Glu) | |
22 | g.37084814G>T | CA411424916 | TMPRSS6 | c.999C>A (p.Asp333Glu) c.1026C>A (p.Asp342Glu) c.12C>A (p.Asp4Glu) c.567C>A (p.Asp189Glu) | gnomAD v4 |
22 | g.37084815T>A | CA411424920 | TMPRSS6 | c.998A>T (p.Asp333Val) c.1025A>T (p.Asp342Val) c.11A>T (p.Asp4Val) c.566A>T (p.Asp189Val) | |
22 | g.37084815T>C | CA411424921 | TMPRSS6 | c.998A>G (p.Asp333Gly) c.1025A>G (p.Asp342Gly) c.11A>G (p.Asp4Gly) c.566A>G (p.Asp189Gly) | gnomAD v4 |
22 | g.37084815T>G | CA411424923 | TMPRSS6 | c.998A>C (p.Asp333Ala) c.1025A>C (p.Asp342Ala) c.11A>C (p.Asp4Ala) c.566A>C (p.Asp189Ala) | |
22 | g.37084816C>A | CA411424925 | TMPRSS6 | c.997G>T (p.Asp333Tyr) c.1024G>T (p.Asp342Tyr) c.10G>T (p.Asp4Tyr) c.565G>T (p.Asp189Tyr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084816C= | CA2404176133 | TMPRSS6 | c.997G= (p.Asp333=) c.1024G= (p.Asp342=) c.10G= (p.Asp4=) c.565G= (p.Asp189=) | |
22 | g.37084816C>G | CA411424927 | TMPRSS6 | c.997G>C (p.Asp333His) c.1024G>C (p.Asp342His) c.10G>C (p.Asp4His) c.565G>C (p.Asp189His) | gnomAD v4 |
22 | g.37084816C>T | CA411424928 | TMPRSS6 | c.997G>A (p.Asp333Asn) c.1024G>A (p.Asp342Asn) c.10G>A (p.Asp4Asn) c.565G>A (p.Asp189Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084817C>A | CA514486829 | TMPRSS6 | c.996G>T (p.Leu332=) c.1023G>T (p.Leu341=) c.9G>T (p.Leu3=) c.564G>T (p.Leu188=) | gnomAD v4 |
22 | g.37084817C= | CA2404176134 | TMPRSS6 | c.996G= (p.Leu332=) c.1023G= (p.Leu341=) c.9G= (p.Leu3=) c.564G= (p.Leu188=) | |
22 | g.37084817C>G | CA514486831 | TMPRSS6 | c.996G>C (p.Leu332=) c.1023G>C (p.Leu341=) c.9G>C (p.Leu3=) c.564G>C (p.Leu188=) | |
22 | g.37084817C>T | CA514486834 | TMPRSS6 | c.996G>A (p.Leu332=) c.1023G>A (p.Leu341=) c.9G>A (p.Leu3=) c.564G>A (p.Leu188=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084818A>C | CA411424930 | TMPRSS6 | c.995T>G (p.Leu332Arg) c.1022T>G (p.Leu341Arg) c.8T>G (p.Leu3Arg) c.563T>G (p.Leu188Arg) | |
22 | g.37084818A>G | CA411424935 | TMPRSS6 | c.995T>C (p.Leu332Pro) c.1022T>C (p.Leu341Pro) c.8T>C (p.Leu3Pro) c.563T>C (p.Leu188Pro) | gnomAD v4 |
22 | g.37084818A>T | CA411424933 | TMPRSS6 | c.995T>A (p.Leu332Gln) c.1022T>A (p.Leu341Gln) c.8T>A (p.Leu3Gln) c.563T>A (p.Leu188Gln) | gnomAD v4 |
22 | g.37084819G>A | CA514486847 | TMPRSS6 | c.994C>T (p.Leu332=) c.1021C>T (p.Leu341=) c.7C>T (p.Leu3=) c.562C>T (p.Leu188=) | gnomAD v4 |
22 | g.37084819G>C | CA411424937 | TMPRSS6 | c.994C>G (p.Leu332Val) c.1021C>G (p.Leu341Val) c.7C>G (p.Leu3Val) c.562C>G (p.Leu188Val) | gnomAD v4 |
22 | g.37084819G>T | CA411424939 | TMPRSS6 | c.994C>A (p.Leu332Met) c.1021C>A (p.Leu341Met) c.7C>A (p.Leu3Met) c.562C>A (p.Leu188Met) | gnomAD v4 |
22 | g.37084820C>A | CA514486850 | TMPRSS6 | c.993G>T (p.Thr331=) c.1020G>T (p.Thr340=) c.6G>T (p.Thr2=) c.561G>T (p.Thr187=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084820C= | CA2404176135 | TMPRSS6 | c.993G= (p.Thr331=) c.1020G= (p.Thr340=) c.6G= (p.Thr2=) c.561G= (p.Thr187=) | |
22 | g.37084820C>G | CA514486851 | TMPRSS6 | c.993G>C (p.Thr331=) c.1020G>C (p.Thr340=) c.6G>C (p.Thr2=) c.561G>C (p.Thr187=) | |
22 | g.37084820C>T | CA10215813 | TMPRSS6 | c.993G>A (p.Thr331=) c.1020G>A (p.Thr340=) c.6G>A (p.Thr2=) c.561G>A (p.Thr187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084821G>A | CA10215814 | TMPRSS6 | c.992C>T (p.Thr331Met) c.1019C>T (p.Thr340Met) c.5C>T (p.Thr2Met) c.560C>T (p.Thr187Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084821G>C | CA411424942 | TMPRSS6 | c.992C>G (p.Thr331Arg) c.1019C>G (p.Thr340Arg) c.5C>G (p.Thr2Arg) c.560C>G (p.Thr187Arg) | |
22 | g.37084821G= | CA2404176136 | TMPRSS6 | c.992C= (p.Thr331=) c.1019C= (p.Thr340=) c.5C= (p.Thr2=) c.560C= (p.Thr187=) | |
22 | g.37084821G>T | CA411424944 | TMPRSS6 | c.992C>A (p.Thr331Lys) c.1019C>A (p.Thr340Lys) c.5C>A (p.Thr2Lys) c.560C>A (p.Thr187Lys) | COSMIC COSMIC COSMIC |
22 | g.37084822T>A | CA411424946 | TMPRSS6 | c.991A>T (p.Thr331Ser) c.1018A>T (p.Thr340Ser) c.4A>T (p.Thr2Ser) c.559A>T (p.Thr187Ser) | dbSNP |
22 | g.37084822T>C | CA411424947 | TMPRSS6 | c.991A>G (p.Thr331Ala) c.1018A>G (p.Thr340Ala) c.4A>G (p.Thr2Ala) c.559A>G (p.Thr187Ala) | |
22 | g.37084822T>G | CA411424949 | TMPRSS6 | c.991A>C (p.Thr331Pro) c.1018A>C (p.Thr340Pro) c.4A>C (p.Thr2Pro) c.559A>C (p.Thr187Pro) | |
22 | g.37084822T= | CA2404176137 | TMPRSS6 | c.991A= (p.Thr331=) c.1018A= (p.Thr340=) c.4A= (p.Thr2=) c.559A= (p.Thr187=) | |
22 | g.37084823C>A | CA514486862 | TMPRSS6 | c.990G>T (p.Leu330=) c.1017G>T (p.Leu339=) c.3G>T (p.Leu1=) c.558G>T (p.Leu186=) | gnomAD v4 |
22 | g.37084823C>G | CA514486864 | TMPRSS6 | c.990G>C (p.Leu330=) c.1017G>C (p.Leu339=) c.3G>C (p.Leu1=) c.558G>C (p.Leu186=) | |
22 | g.37084823C>T | CA514486866 | TMPRSS6 | c.990G>A (p.Leu330=) c.1017G>A (p.Leu339=) c.3G>A (p.Leu1=) c.558G>A (p.Leu186=) | gnomAD v4 |
22 | g.37084824A>C | CA411424951 | TMPRSS6 | c.989T>G (p.Leu330Arg) c.1016T>G (p.Leu339Arg) c.2T>G (p.Leu1Arg) c.557T>G (p.Leu186Arg) | |
22 | g.37084824A>G | CA411424953 | TMPRSS6 | c.989T>C (p.Leu330Pro) c.1016T>C (p.Leu339Pro) c.2T>C (p.Leu1Pro) c.557T>C (p.Leu186Pro) | gnomAD v4 |
22 | g.37084824A>T | CA411424955 | TMPRSS6 | c.989T>A (p.Leu330Gln) c.1016T>A (p.Leu339Gln) c.2T>A (p.Leu1Gln) c.557T>A (p.Leu186Gln) | gnomAD v4 |
22 | g.37084825G>A | CA514486878 | TMPRSS6 | c.988C>T (p.Leu330=) c.1015C>T (p.Leu339=) c.1C>T (p.Leu1=) c.556C>T (p.Leu186=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084825G>C | CA411424958 | TMPRSS6 | c.988C>G (p.Leu330Val) c.1015C>G (p.Leu339Val) c.1C>G (p.Leu1Val) c.556C>G (p.Leu186Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084825G= | CA2404176138 | TMPRSS6 | c.988C= (p.Leu330=) c.1015C= (p.Leu339=) c.1C= (p.Leu1=) c.556C= (p.Leu186=) | |
22 | g.37084825G>T | CA411424957 | TMPRSS6 | c.988C>A (p.Leu330Met) c.1015C>A (p.Leu339Met) c.1C>A (p.Leu1Met) c.556C>A (p.Leu186Met) | gnomAD v4 |
22 | g.37084826G>A | CA514486881 | TMPRSS6 | c.987C>T (p.Asn329=) c.1014C>T (p.Asn338=) c.555C>T (p.Asn185=) | gnomAD v4 |
22 | g.37084826G>C | CA411424961 | TMPRSS6 | c.987C>G (p.Asn329Lys) c.1014C>G (p.Asn338Lys) c.555C>G (p.Asn185Lys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084826G= | CA2404176139 | TMPRSS6 | c.987C= (p.Asn329=) c.1014C= (p.Asn338=) c.555C= (p.Asn185=) | |
22 | g.37084826G>T | CA411424962 | TMPRSS6 | c.987C>A (p.Asn329Lys) c.1014C>A (p.Asn338Lys) c.555C>A (p.Asn185Lys) | gnomAD v4 |
22 | g.37084827T>A | CA411424964 | TMPRSS6 | c.986A>T (p.Asn329Ile) c.1013A>T (p.Asn338Ile) c.554A>T (p.Asn185Ile) | |
22 | g.37084827T>C | CA411424968 | TMPRSS6 | c.986A>G (p.Asn329Ser) c.1013A>G (p.Asn338Ser) c.554A>G (p.Asn185Ser) | |
22 | g.37084827T>G | CA411424966 | TMPRSS6 | c.986A>C (p.Asn329Thr) c.1013A>C (p.Asn338Thr) c.554A>C (p.Asn185Thr) | dbSNP |
22 | g.37084827T= | CA2404176140 | TMPRSS6 | c.986A= (p.Asn329=) c.1013A= (p.Asn338=) c.554A= (p.Asn185=) | |
22 | g.37084828T>A | CA411424969 | TMPRSS6 | c.985A>T (p.Asn329Tyr) c.1012A>T (p.Asn338Tyr) c.553A>T (p.Asn185Tyr) | |
22 | g.37084828T>C | CA324060561 | TMPRSS6 | c.985A>G (p.Asn329Asp) c.1012A>G (p.Asn338Asp) c.553A>G (p.Asn185Asp) | dbSNP gnomAD v4 |
22 | g.37084828T>G | CA411424972 | TMPRSS6 | c.985A>C (p.Asn329His) c.1012A>C (p.Asn338His) c.553A>C (p.Asn185His) | |
22 | g.37084828T= | CA2404176141 | TMPRSS6 | c.985A= (p.Asn329=) c.1012A= (p.Asn338=) c.553A= (p.Asn185=) | |
22 | g.37084829C>A | CA514486898 | TMPRSS6 | c.984G>T (p.Val328=) c.1011G>T (p.Val337=) c.552G>T (p.Val184=) | gnomAD v4 |
22 | g.37084829C>G | CA514486900 | TMPRSS6 | c.984G>C (p.Val328=) c.1011G>C (p.Val337=) c.552G>C (p.Val184=) | |
22 | g.37084829C>T | CA514486903 | TMPRSS6 | c.984G>A (p.Val328=) c.1011G>A (p.Val337=) c.552G>A (p.Val184=) | gnomAD v4 |
22 | g.37084830A= | CA2404176142 | TMPRSS6 | c.983T= (p.Val328=) c.1010T= (p.Val337=) c.551T= (p.Val184=) | |
22 | g.37084830A>C | CA411424974 | TMPRSS6 | c.983T>G (p.Val328Gly) c.1010T>G (p.Val337Gly) c.551T>G (p.Val184Gly) | |
22 | g.37084830A>G | CA411424976 | TMPRSS6 | c.983T>C (p.Val328Ala) c.1010T>C (p.Val337Ala) c.551T>C (p.Val184Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084830A>T | CA411424978 | TMPRSS6 | c.983T>A (p.Val328Glu) c.1010T>A (p.Val337Glu) c.551T>A (p.Val184Glu) | gnomAD v4 |
22 | g.37084831C>A | CA411424979 | TMPRSS6 | c.982G>T (p.Val328Leu) c.1009G>T (p.Val337Leu) c.550G>T (p.Val184Leu) | |
22 | g.37084831C>G | CA411424981 | TMPRSS6 | c.982G>C (p.Val328Leu) c.1009G>C (p.Val337Leu) c.550G>C (p.Val184Leu) | |
22 | g.37084831C>T | CA411424983 | TMPRSS6 | c.982G>A (p.Val328Met) c.1009G>A (p.Val337Met) c.550G>A (p.Val184Met) | gnomAD v4 |
22 | g.37084832T>A | CA411424985 | TMPRSS6 | c.981A>T (p.Glu327Asp) c.1008A>T (p.Glu336Asp) c.549A>T (p.Glu183Asp) | gnomAD v4 |
22 | g.37084832T>C | CA514486918 | TMPRSS6 | c.981A>G (p.Glu327=) c.1008A>G (p.Glu336=) c.549A>G (p.Glu183=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084832T>G | CA411424986 | TMPRSS6 | c.981A>C (p.Glu327Asp) c.1008A>C (p.Glu336Asp) c.549A>C (p.Glu183Asp) | |
22 | g.37084832T= | CA2404176143 | TMPRSS6 | c.981A= (p.Glu327=) c.1008A= (p.Glu336=) c.549A= (p.Glu183=) | |
22 | g.37084833T>A | CA411424992 | TMPRSS6 | c.980A>T (p.Glu327Val) c.1007A>T (p.Glu336Val) c.548A>T (p.Glu183Val) | |
22 | g.37084833T>C | CA411424989 | TMPRSS6 | c.980A>G (p.Glu327Gly) c.1007A>G (p.Glu336Gly) c.548A>G (p.Glu183Gly) | |
22 | g.37084833T>G | CA411424991 | TMPRSS6 | c.980A>C (p.Glu327Ala) c.1007A>C (p.Glu336Ala) c.548A>C (p.Glu183Ala) | |
22 | g.37084834C>A | CA411424994 | TMPRSS6 | c.979G>T (p.Glu327Ter) c.1006G>T (p.Glu336Ter) c.547G>T (p.Glu183Ter) | gnomAD v4 |
22 | g.37084834C>G | CA411424996 | TMPRSS6 | c.979G>C (p.Glu327Gln) c.1006G>C (p.Glu336Gln) c.547G>C (p.Glu183Gln) | |
22 | g.37084834C>T | CA411424997 | TMPRSS6 | c.979G>A (p.Glu327Lys) c.1006G>A (p.Glu336Lys) c.547G>A (p.Glu183Lys) | |
22 | g.37084835A>C | CA411424999 | TMPRSS6 | c.978T>G (p.Cys326Trp) c.1005T>G (p.Cys335Trp) c.546T>G (p.Cys182Trp) | |
22 | g.37084835A>G | CA514486930 | TMPRSS6 | c.978T>C (p.Cys326=) c.1005T>C (p.Cys335=) c.546T>C (p.Cys182=) | |
22 | g.37084835A>T | CA411425000 | TMPRSS6 | c.978T>A (p.Cys326Ter) c.1005T>A (p.Cys335Ter) c.546T>A (p.Cys182Ter) | |
22 | g.37084836C>A | CA411425002 | TMPRSS6 | c.977G>T (p.Cys326Phe) c.1004G>T (p.Cys335Phe) c.545G>T (p.Cys182Phe) | |
22 | g.37084836C= | CA2404176144 | TMPRSS6 | c.977G= (p.Cys326=) c.1004G= (p.Cys335=) c.545G= (p.Cys182=) | |
22 | g.37084836C>G | CA411425004 | TMPRSS6 | c.977G>C (p.Cys326Ser) c.1004G>C (p.Cys335Ser) c.545G>C (p.Cys182Ser) | |
22 | g.37084836C>T | CA411425005 | TMPRSS6 | c.977G>A (p.Cys326Tyr) c.1004G>A (p.Cys335Tyr) c.545G>A (p.Cys182Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084837A= | CA2404176145 | TMPRSS6 | c.976T= (p.Cys326=) c.1003T= (p.Cys335=) c.544T= (p.Cys182=) | |
22 | g.37084837A>C | CA411425008 | TMPRSS6 | c.976T>G (p.Cys326Gly) c.1003T>G (p.Cys335Gly) c.544T>G (p.Cys182Gly) | dbSNP |
22 | g.37084837A>G | CA411425009 | TMPRSS6 | c.976T>C (p.Cys326Arg) c.1003T>C (p.Cys335Arg) c.544T>C (p.Cys182Arg) | gnomAD v4 |
22 | g.37084837A>T | CA411425010 | TMPRSS6 | c.976T>A (p.Cys326Ser) c.1003T>A (p.Cys335Ser) c.544T>A (p.Cys182Ser) | gnomAD v4 |
22 | g.37084838G>A | CA514486947 | TMPRSS6 | c.975C>T (p.Ala325=) c.1002C>T (p.Ala334=) c.543C>T (p.Ala181=) | |
22 | g.37084838G>C | CA514486949 | TMPRSS6 | c.975C>G (p.Ala325=) c.1002C>G (p.Ala334=) c.543C>G (p.Ala181=) | |
22 | g.37084838G>T | CA514486953 | TMPRSS6 | c.975C>A (p.Ala325=) c.1002C>A (p.Ala334=) c.543C>A (p.Ala181=) | |
22 | g.37084839G>A | CA411425014 | TMPRSS6 | c.974C>T (p.Ala325Val) c.1001C>T (p.Ala334Val) c.542C>T (p.Ala181Val) | gnomAD v4 |
22 | g.37084839G>C | CA411425016 | TMPRSS6 | c.974C>G (p.Ala325Gly) c.1001C>G (p.Ala334Gly) c.542C>G (p.Ala181Gly) | |
22 | g.37084839G= | CA2404176146 | TMPRSS6 | c.974C= (p.Ala325=) c.1001C= (p.Ala334=) c.542C= (p.Ala181=) | |
22 | g.37084839G>T | CA411425013 | TMPRSS6 | c.974C>A (p.Ala325Asp) c.1001C>A (p.Ala334Asp) c.542C>A (p.Ala181Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084840C>A | CA411425018 | TMPRSS6 | c.974-1G>T (n.974-1G>T) c.1001-1G>T (n.1001-1G>T) c.542-1G>T (n.542-1G>T) | gnomAD v4 |
22 | g.37084840C>G | CA411425020 | TMPRSS6 | c.974-1G>C (n.974-1G>C) c.1001-1G>C (n.1001-1G>C) c.542-1G>C (n.542-1G>C) | |
22 | g.37084840C>T | CA411425022 | TMPRSS6 | c.974-1G>A (n.974-1G>A) c.1001-1G>A (n.1001-1G>A) c.542-1G>A (n.542-1G>A) | |
22 | g.37084841T>A | CA411425024 | TMPRSS6 | c.974-2A>T (n.974-2A>T) c.1001-2A>T (n.1001-2A>T) c.542-2A>T (n.542-2A>T) | |
22 | g.37084841T>C | CA411425025 | TMPRSS6 | c.974-2A>G (n.974-2A>G) c.1001-2A>G (n.1001-2A>G) c.542-2A>G (n.542-2A>G) | |
22 | g.37084841T>G | CA411425026 | TMPRSS6 | c.974-2A>C (n.974-2A>C) c.1001-2A>C (n.1001-2A>C) c.542-2A>C (n.542-2A>C) | |
22 | g.37084843_37084851del | CA2695230876 | TMPRSS6 | c.974-11_974-3del (n.974-11_974-3del) c.1001-11_1001-3del (n.1001-11_1001-3del) c.542-11_542-3del (n.542-11_542-3del) | |
22 | g.37084843G>A | CA2656466849 | TMPRSS6 | c.974-4C>T (n.974-4C>T) c.1001-4C>T (n.1001-4C>T) c.542-4C>T (n.542-4C>T) | gnomAD v4 |
22 | g.37084843G>T | CA2656466850 | TMPRSS6 | c.974-4C>A (n.974-4C>A) c.1001-4C>A (n.1001-4C>A) c.542-4C>A (n.542-4C>A) | gnomAD v4 |
22 | g.37084844A= | CA2404176147 | TMPRSS6 | c.974-5T= (n.974-5T=) c.1001-5T= (n.1001-5T=) c.542-5T= (n.542-5T=) | |
22 | g.37084844A>G | CA2404176148 | TMPRSS6 | c.974-5T>C (n.974-5T>C) c.1001-5T>C (n.1001-5T>C) c.542-5T>C (n.542-5T>C) | dbSNP gnomAD v4 |
22 | g.37084845C>T | CA2656466851 | TMPRSS6 | c.974-6G>A (n.974-6G>A) c.1001-6G>A (n.1001-6G>A) c.542-6G>A (n.542-6G>A) | gnomAD v4 |
22 | g.37084846C>A | CA2656466853 | TMPRSS6 | c.974-7G>T (n.974-7G>T) c.1001-7G>T (n.1001-7G>T) c.542-7G>T (n.542-7G>T) | gnomAD v4 |
22 | g.37084846C>T | CA2656466852 | TMPRSS6 | c.974-7G>A (n.974-7G>A) c.1001-7G>A (n.1001-7G>A) c.542-7G>A (n.542-7G>A) | gnomAD v4 |
22 | g.37084847A>G | CA2577705966 | TMPRSS6 | c.974-8T>C (n.974-8T>C) c.1001-8T>C (n.1001-8T>C) c.542-8T>C (n.542-8T>C) | gnomAD v4 |
22 | g.37084848G>T | CA2656466854 | TMPRSS6 | c.974-9C>A (n.974-9C>A) c.1001-9C>A (n.1001-9C>A) c.542-9C>A (n.542-9C>A) | gnomAD v4 |
22 | g.37084849G>A | CA639178546 | TMPRSS6 | c.974-10C>T (n.974-10C>T) c.1001-10C>T (n.1001-10C>T) c.542-10C>T (n.542-10C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084849G>C | CA324060570 | TMPRSS6 | c.974-10C>G (n.974-10C>G) c.1001-10C>G (n.1001-10C>G) c.542-10C>G (n.542-10C>G) | dbSNP gnomAD v4 |
22 | g.37084849G= | CA2404176149 | TMPRSS6 | c.974-10C= (n.974-10C=) c.1001-10C= (n.1001-10C=) c.542-10C= (n.542-10C=) | |
22 | g.37084849G>T | CA2656466855 | TMPRSS6 | c.974-10C>A (n.974-10C>A) c.1001-10C>A (n.1001-10C>A) c.542-10C>A (n.542-10C>A) | gnomAD v4 |
22 | g.37084851G>A | CA2577705967 | TMPRSS6 | c.974-12C>T (n.974-12C>T) c.1001-12C>T (n.1001-12C>T) c.542-12C>T (n.542-12C>T) | gnomAD v4 |
22 | g.37084851G>C | CA10215815 | TMPRSS6 | c.974-12C>G (n.974-12C>G) c.1001-12C>G (n.1001-12C>G) c.542-12C>G (n.542-12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084851G= | CA2404176150 | TMPRSS6 | c.974-12C= (n.974-12C=) c.1001-12C= (n.1001-12C=) c.542-12C= (n.542-12C=) | |
22 | g.37084856G>C | CA2656466856 | TMPRSS6 | c.974-17C>G (n.974-17C>G) c.1001-17C>G (n.1001-17C>G) c.542-17C>G (n.542-17C>G) | gnomAD v4 |
22 | g.37084856G>T | CA2656466857 | TMPRSS6 | c.974-17C>A (n.974-17C>A) c.1001-17C>A (n.1001-17C>A) c.542-17C>A (n.542-17C>A) | gnomAD v4 |
22 | g.37084857C>A | CA2656466858 | TMPRSS6 | c.974-18G>T (n.974-18G>T) c.1001-18G>T (n.1001-18G>T) c.542-18G>T (n.542-18G>T) | gnomAD v4 |
22 | g.37084857C= | CA2404176151 | TMPRSS6 | c.974-18G= (n.974-18G=) c.1001-18G= (n.1001-18G=) c.542-18G= (n.542-18G=) | |
22 | g.37084857C>T | CA10215816 | TMPRSS6 | c.974-18G>A (n.974-18G>A) c.1001-18G>A (n.1001-18G>A) c.542-18G>A (n.542-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084858T>C | CA2577705968 | TMPRSS6 | c.974-19A>G (n.974-19A>G) c.1001-19A>G (n.1001-19A>G) c.542-19A>G (n.542-19A>G) | |
22 | g.37084858T>G | CA2738014683 | TMPRSS6 | c.974-19A>C (n.974-19A>C) c.1001-19A>C (n.1001-19A>C) c.542-19A>C (n.542-19A>C) | dbSNP |
22 | g.37084859_37084860del | CA2656466859 | TMPRSS6 | c.974-20_974-19del (n.974-20_974-19del) c.1001-20_1001-19del (n.1001-20_1001-19del) c.542-20_542-19del (n.542-20_542-19del) | gnomAD v4 |
22 | g.37084859G>T | CA2656466860 | TMPRSS6 | c.974-20C>A (n.974-20C>A) c.1001-20C>A (n.1001-20C>A) c.542-20C>A (n.542-20C>A) | dbSNP gnomAD v4 |
22 | g.37084860T>C | CA10215817 | TMPRSS6 | c.974-21A>G (n.974-21A>G) c.1001-21A>G (n.1001-21A>G) c.542-21A>G (n.542-21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084860T= | CA2404176152 | TMPRSS6 | c.974-21A= (n.974-21A=) c.1001-21A= (n.1001-21A=) c.542-21A= (n.542-21A=) | |
22 | g.37084862del | CA2577705969 | TMPRSS6 | c.974-23del (n.974-23del) c.1001-23del (n.1001-23del) c.542-23del (n.542-23del) | |
22 | g.37084862A>T | CA2656466861 | TMPRSS6 | c.974-23T>A (n.974-23T>A) c.1001-23T>A (n.1001-23T>A) c.542-23T>A (n.542-23T>A) | gnomAD v4 |
22 | g.37084863C>T | CA2577705970 | TMPRSS6 | c.974-24G>A (n.974-24G>A) c.1001-24G>A (n.1001-24G>A) c.542-24G>A (n.542-24G>A) | gnomAD v4 |
22 | g.37084865C= | CA2404176153 | TMPRSS6 | c.974-26G= (n.974-26G=) c.1001-26G= (n.1001-26G=) c.542-26G= (n.542-26G=) | |
22 | g.37084865C>G | CA1025533479 | TMPRSS6 | c.974-26G>C (n.974-26G>C) c.1001-26G>C (n.1001-26G>C) c.542-26G>C (n.542-26G>C) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084865C>T | CA2656466862 | TMPRSS6 | c.974-26G>A (n.974-26G>A) c.1001-26G>A (n.1001-26G>A) c.542-26G>A (n.542-26G>A) | gnomAD v4 |
22 | g.37084866A>G | CA2577705971 | TMPRSS6 | c.974-27T>C (n.974-27T>C) c.1001-27T>C (n.1001-27T>C) c.542-27T>C (n.542-27T>C) | gnomAD v4 |
22 | g.37084866_37084867del | CA2656466863 | TMPRSS6 | c.974-28_974-27del (n.974-28_974-27del) c.1001-28_1001-27del (n.1001-28_1001-27del) c.542-28_542-27del (n.542-28_542-27del) | gnomAD v4 |
22 | g.37084867G>T | CA2656466865 | TMPRSS6 | c.974-28C>A (n.974-28C>A) c.1001-28C>A (n.1001-28C>A) c.542-28C>A (n.542-28C>A) | gnomAD v4 |
22 | g.37084870del | CA2656466864 | TMPRSS6 | c.974-28del (n.974-28del) c.1001-28del (n.1001-28del) c.542-28del (n.542-28del) | gnomAD v4 |
22 | g.37084868G>A | CA639178547 | TMPRSS6 | c.974-29C>T (n.974-29C>T) c.1001-29C>T (n.1001-29C>T) c.542-29C>T (n.542-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37084868G= | CA2404176154 | TMPRSS6 | c.974-29C= (n.974-29C=) c.1001-29C= (n.1001-29C=) c.542-29C= (n.542-29C=) | |
22 | g.37084869G>A | CA752894216 | TMPRSS6 | c.974-30C>T (n.974-30C>T) c.1001-30C>T (n.1001-30C>T) c.542-30C>T (n.542-30C>T) | dbSNP gnomAD v4 |
22 | g.37084869G= | CA2404176155 | TMPRSS6 | c.974-30C= (n.974-30C=) c.1001-30C= (n.1001-30C=) c.542-30C= (n.542-30C=) | |
22 | g.37084869G>T | CA2656466866 | TMPRSS6 | c.974-30C>A (n.974-30C>A) c.1001-30C>A (n.1001-30C>A) c.542-30C>A (n.542-30C>A) | gnomAD v4 |
22 | g.37084870G>A | CA10215819 | TMPRSS6 | c.974-31C>T (n.974-31C>T) c.1001-31C>T (n.1001-31C>T) c.542-31C>T (n.542-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37084870G= | CA2404176157 | TMPRSS6 | c.974-31C= (n.974-31C=) c.1001-31C= (n.1001-31C=) c.542-31C= (n.542-31C=) | |
22 | g.37084870G>T | CA10215818 | TMPRSS6 | c.974-31C>A (n.974-31C>A) c.1001-31C>A (n.1001-31C>A) c.542-31C>A (n.542-31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37084870_37084885delinsGTCCCCTGGCTGCACC | CA2404176156 | TMPRSS6 | c.974-46_974-31delinsGGTGCAGCCAGGGGAC (n.974-46_974-31delinsGGTGCAGCCAGGGGAC) c.1001-46_1001-31delinsGGTGCAGCCAGGGGAC (n.1001-46_1001-31delinsGGTGCAGCCAGGGGAC) c.542-46_542-31delinsGGTGCAGCCAGGGGAC (n.542-46_542-31delinsGGTGCAGCCAGGGGAC) | |
22 | g.37084871T>A | CA2577705972 | TMPRSS6 | c.974-32A>T (n.974-32A>T) c.1001-32A>T (n.1001-32A>T) c.542-32A>T (n.542-32A>T) | |
22 | g.37084871T>G | CA2404176160 | TMPRSS6 | c.974-32A>C (n.974-32A>C) c.1001-32A>C (n.1001-32A>C) c.542-32A>C (n.542-32A>C) | dbSNP |
22 | g.37084871T= | CA2404176159 | TMPRSS6 | c.974-32A= (n.974-32A=) c.1001-32A= (n.1001-32A=) c.542-32A= (n.542-32A=) | |
22 | g.37084875_37084889del | CA2404176158 | TMPRSS6 | c.974-46_974-32del (n.974-46_974-32del) c.1001-46_1001-32del (n.1001-46_1001-32del) c.542-46_542-32del (n.542-46_542-32del) | dbSNP |
22 | g.37084872C>A | CA2656466867 | TMPRSS6 | c.974-33G>T (n.974-33G>T) c.1001-33G>T (n.1001-33G>T) c.542-33G>T (n.542-33G>T) | gnomAD v4 |
22 | g.37084872C= | CA2404176161 | TMPRSS6 | c.974-33G= (n.974-33G=) c.1001-33G= (n.1001-33G=) c.542-33G= (n.542-33G=) | |
22 | g.37084872C>T | CA2404176162 | TMPRSS6 | c.974-33G>A (n.974-33G>A) c.1001-33G>A (n.1001-33G>A) c.542-33G>A (n.542-33G>A) | dbSNP gnomAD v4 |
22 | g.37084875del | CA2656466868 | TMPRSS6 | c.974-33del (n.974-33del) c.1001-33del (n.1001-33del) c.542-33del (n.542-33del) | gnomAD v4 |
22 | g.37084873C= | CA2404176163 | TMPRSS6 | c.974-34G= (n.974-34G=) c.1001-34G= (n.1001-34G=) c.542-34G= (n.542-34G=) | |
22 | g.37084873C>G | CA2404176164 | TMPRSS6 | c.974-34G>C (n.974-34G>C) c.1001-34G>C (n.1001-34G>C) c.542-34G>C (n.542-34G>C) | dbSNP gnomAD v4 |
22 | g.37084873C>T | CA752894225 | TMPRSS6 | c.974-34G>A (n.974-34G>A) c.1001-34G>A (n.1001-34G>A) c.542-34G>A (n.542-34G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37084874C>G | CA2656466869 | TMPRSS6 | c.974-35G>C (n.974-35G>C) c.1001-35G>C (n.1001-35G>C) c.542-35G>C (n.542-35G>C) | gnomAD v4 |
22 | g.37084875C>A | CA2656466870 | TMPRSS6 | c.974-36G>T (n.974-36G>T) c.1001-36G>T (n.1001-36G>T) c.542-36G>T (n.542-36G>T) | gnomAD v4 |
22 | g.37084875C>T | CA2656466871 | TMPRSS6 | c.974-36G>A (n.974-36G>A) c.1001-36G>A (n.1001-36G>A) c.542-36G>A (n.542-36G>A) | gnomAD v4 |