| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186172049C>A | CA343933751 | HMCN1 | c.15732C>A (p.His5244Gln) c.108C>A (p.His36Gln) n.320C>A c.15447C>A (p.His5149Gln) c.13755C>A (p.His4585Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186172049C= | CA1140929721 | HMCN1 | c.15732C= (p.His5244=) c.108C= (p.His36=) n.320C= c.15447C= (p.His5149=) c.13755C= (p.His4585=) | |
| 1 | g.186172049C>G | CA1295359 | HMCN1 | c.15732C>G (p.His5244Gln) c.108C>G (p.His36Gln) n.320C>G c.15447C>G (p.His5149Gln) c.13755C>G (p.His4585Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186172049C>T | CA422334619 | HMCN1 | c.15732C>T (p.His5244=) c.108C>T (p.His36=) n.320C>T c.15447C>T (p.His5149=) c.13755C>T (p.His4585=) | gnomAD v4 |
| 1 | g.186172050T>A | CA343933754 | HMCN1 | c.15733T>A (p.Cys5245Ser) c.109T>A (p.Cys37Ser) n.321T>A c.15448T>A (p.Cys5150Ser) c.13756T>A (p.Cys4586Ser) | |
| 1 | g.186172050T>C | CA343933756 | HMCN1 | c.15733T>C (p.Cys5245Arg) c.109T>C (p.Cys37Arg) n.321T>C c.15448T>C (p.Cys5150Arg) c.13756T>C (p.Cys4586Arg) | |
| 1 | g.186172050T>G | CA343933760 | HMCN1 | c.15733T>G (p.Cys5245Gly) c.109T>G (p.Cys37Gly) n.321T>G c.15448T>G (p.Cys5150Gly) c.13756T>G (p.Cys4586Gly) | |
| 1 | g.186172051G>A | CA343933763 | HMCN1 | c.15734G>A (p.Cys5245Tyr) c.110G>A (p.Cys37Tyr) n.322G>A c.15449G>A (p.Cys5150Tyr) c.13757G>A (p.Cys4586Tyr) | |
| 1 | g.186172051G>C | CA343933764 | HMCN1 | c.15734G>C (p.Cys5245Ser) c.110G>C (p.Cys37Ser) n.322G>C c.15449G>C (p.Cys5150Ser) c.13757G>C (p.Cys4586Ser) | |
| 1 | g.186172051G>T | CA343933765 | HMCN1 | c.15734G>T (p.Cys5245Phe) c.110G>T (p.Cys37Phe) n.322G>T c.15449G>T (p.Cys5150Phe) c.13757G>T (p.Cys4586Phe) | |
| 1 | g.186172052T>A | CA343933766 | HMCN1 | c.15735T>A (p.Cys5245Ter) c.111T>A (p.Cys37Ter) n.323T>A c.15450T>A (p.Cys5150Ter) c.13758T>A (p.Cys4586Ter) | |
| 1 | g.186172052T>C | CA422334627 | HMCN1 | c.15735T>C (p.Cys5245=) c.111T>C (p.Cys37=) n.323T>C c.15450T>C (p.Cys5150=) c.13758T>C (p.Cys4586=) | |
| 1 | g.186172052T>G | CA343933767 | HMCN1 | c.15735T>G (p.Cys5245Trp) c.111T>G (p.Cys37Trp) n.323T>G c.15450T>G (p.Cys5150Trp) c.13758T>G (p.Cys4586Trp) | |
| 1 | g.186172053A= | CA1213027254 | HMCN1 | c.15736A= (p.Lys5246=) c.112A= (p.Lys38=) n.324A= c.15451A= (p.Lys5151=) c.13759A= (p.Lys4587=) | |
| 1 | g.186172053A>C | CA343933768 | HMCN1 | c.15736A>C (p.Lys5246Gln) c.112A>C (p.Lys38Gln) n.324A>C c.15451A>C (p.Lys5151Gln) c.13759A>C (p.Lys4587Gln) | |
| 1 | g.186172053A>G | CA1295360 | HMCN1 | c.15736A>G (p.Lys5246Glu) c.112A>G (p.Lys38Glu) n.324A>G c.15451A>G (p.Lys5151Glu) c.13759A>G (p.Lys4587Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186172053A>T | CA343933769 | HMCN1 | c.15736A>T (p.Lys5246Ter) c.112A>T (p.Lys38Ter) n.324A>T c.15451A>T (p.Lys5151Ter) c.13759A>T (p.Lys4587Ter) | gnomAD v4 |
| 1 | g.186172054A>C | CA343933775 | HMCN1 | c.15737A>C (p.Lys5246Thr) c.113A>C (p.Lys38Thr) n.325A>C c.15452A>C (p.Lys5151Thr) c.13760A>C (p.Lys4587Thr) | |
| 1 | g.186172054A>G | CA343933776 | HMCN1 | c.15737A>G (p.Lys5246Arg) c.113A>G (p.Lys38Arg) n.325A>G c.15452A>G (p.Lys5151Arg) c.13760A>G (p.Lys4587Arg) | |
| 1 | g.186172054A>T | CA343933778 | HMCN1 | c.15737A>T (p.Lys5246Met) c.113A>T (p.Lys38Met) n.325A>T c.15452A>T (p.Lys5151Met) c.13760A>T (p.Lys4587Met) | |
| 1 | g.186172055G>A | CA422334632 | HMCN1 | c.15738G>A (p.Lys5246=) c.114G>A (p.Lys38=) n.326G>A c.15453G>A (p.Lys5151=) c.13761G>A (p.Lys4587=) | COSMIC |
| 1 | g.186172055G>C | CA343933779 | HMCN1 | c.15738G>C (p.Lys5246Asn) c.114G>C (p.Lys38Asn) n.326G>C c.15453G>C (p.Lys5151Asn) c.13761G>C (p.Lys4587Asn) | |
| 1 | g.186172055G>T | CA343933781 | HMCN1 | c.15738G>T (p.Lys5246Asn) c.114G>T (p.Lys38Asn) n.326G>T c.15453G>T (p.Lys5151Asn) c.13761G>T (p.Lys4587Asn) | |
| 1 | g.186172056A= | CA1213027255 | HMCN1 | c.15739A= (p.Asn5247=) c.115A= (p.Asn39=) n.327A= c.15454A= (p.Asn5152=) c.13762A= (p.Asn4588=) | |
| 1 | g.186172056A>C | CA343933782 | HMCN1 | c.15739A>C (p.Asn5247His) c.115A>C (p.Asn39His) n.327A>C c.15454A>C (p.Asn5152His) c.13762A>C (p.Asn4588His) | |
| 1 | g.186172056A>G | CA343933784 | HMCN1 | c.15739A>G (p.Asn5247Asp) c.115A>G (p.Asn39Asp) n.327A>G c.15454A>G (p.Asn5152Asp) c.13762A>G (p.Asn4588Asp) | dbSNP gnomAD v2 |
| 1 | g.186172056A>T | CA343933801 | HMCN1 | c.15739A>T (p.Asn5247Tyr) c.115A>T (p.Asn39Tyr) n.327A>T c.15454A>T (p.Asn5152Tyr) c.13762A>T (p.Asn4588Tyr) | |
| 1 | g.186172057del | CA2649561879 | HMCN1 | c.15740del (p.Asn5247ThrfsTer16) c.116del (p.Asn39ThrfsTer16) n.328del c.15455del (p.Asn5152ThrfsTer16) c.13763del (p.Asn4588ThrfsTer16) | gnomAD v4 |
| 1 | g.186172057A>C | CA343933805 | HMCN1 | c.15740A>C (p.Asn5247Thr) c.116A>C (p.Asn39Thr) n.328A>C c.15455A>C (p.Asn5152Thr) c.13763A>C (p.Asn4588Thr) | |
| 1 | g.186172057A>G | CA343933809 | HMCN1 | c.15740A>G (p.Asn5247Ser) c.116A>G (p.Asn39Ser) n.328A>G c.15455A>G (p.Asn5152Ser) c.13763A>G (p.Asn4588Ser) | |
| 1 | g.186172057A>T | CA343933811 | HMCN1 | c.15740A>T (p.Asn5247Ile) c.116A>T (p.Asn39Ile) n.328A>T c.15455A>T (p.Asn5152Ile) c.13763A>T (p.Asn4588Ile) | |
| 1 | g.186172058C>A | CA343933824 | HMCN1 | c.15741C>A (p.Asn5247Lys) c.117C>A (p.Asn39Lys) n.329C>A c.15456C>A (p.Asn5152Lys) c.13764C>A (p.Asn4588Lys) | |
| 1 | g.186172058C>G | CA343933822 | HMCN1 | c.15741C>G (p.Asn5247Lys) c.117C>G (p.Asn39Lys) n.329C>G c.15456C>G (p.Asn5152Lys) c.13764C>G (p.Asn4588Lys) | |
| 1 | g.186172058C>T | CA422334642 | HMCN1 | c.15741C>T (p.Asn5247=) c.117C>T (p.Asn39=) n.329C>T c.15456C>T (p.Asn5152=) c.13764C>T (p.Asn4588=) | COSMIC |
| 1 | g.186172059A>C | CA343933826 | HMCN1 | c.15742A>C (p.Thr5248Pro) c.118A>C (p.Thr40Pro) n.330A>C c.15457A>C (p.Thr5153Pro) c.13765A>C (p.Thr4589Pro) | |
| 1 | g.186172059A>G | CA343933832 | HMCN1 | c.15742A>G (p.Thr5248Ala) c.118A>G (p.Thr40Ala) n.330A>G c.15457A>G (p.Thr5153Ala) c.13765A>G (p.Thr4589Ala) | |
| 1 | g.186172059A>T | CA343933829 | HMCN1 | c.15742A>T (p.Thr5248Ser) c.118A>T (p.Thr40Ser) n.330A>T c.15457A>T (p.Thr5153Ser) c.13765A>T (p.Thr4589Ser) | |
| 1 | g.186172060C>A | CA343933841 | HMCN1 | c.15743C>A (p.Thr5248Asn) c.119C>A (p.Thr40Asn) n.331C>A c.15458C>A (p.Thr5153Asn) c.13766C>A (p.Thr4589Asn) | |
| 1 | g.186172060C= | CA1143360498 | HMCN1 | c.15743C= (p.Thr5248=) c.119C= (p.Thr40=) n.331C= c.15458C= (p.Thr5153=) c.13766C= (p.Thr4589=) | |
| 1 | g.186172060C>G | CA343933843 | HMCN1 | c.15743C>G (p.Thr5248Ser) c.119C>G (p.Thr40Ser) n.331C>G c.15458C>G (p.Thr5153Ser) c.13766C>G (p.Thr4589Ser) | |
| 1 | g.186172060C>T | CA33502300 | HMCN1 | c.15743C>T (p.Thr5248Ile) c.119C>T (p.Thr40Ile) n.331C>T c.15458C>T (p.Thr5153Ile) c.13766C>T (p.Thr4589Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186172061C>A | CA422334648 | HMCN1 | c.15744C>A (p.Thr5248=) c.120C>A (p.Thr40=) n.332C>A c.15459C>A (p.Thr5153=) c.13767C>A (p.Thr4589=) | |
| 1 | g.186172061C= | CA1213027256 | HMCN1 | c.15744C= (p.Thr5248=) c.120C= (p.Thr40=) n.332C= c.15459C= (p.Thr5153=) c.13767C= (p.Thr4589=) | |
| 1 | g.186172061C>G | CA422334649 | HMCN1 | c.15744C>G (p.Thr5248=) c.120C>G (p.Thr40=) n.332C>G c.15459C>G (p.Thr5153=) c.13767C>G (p.Thr4589=) | |
| 1 | g.186172061C>T | CA1295361 | HMCN1 | c.15744C>T (p.Thr5248=) c.120C>T (p.Thr40=) n.332C>T c.15459C>T (p.Thr5153=) c.13767C>T (p.Thr4589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186172062C>A | CA343933847 | HMCN1 | c.15745C>A (p.Arg5249Ser) c.121C>A (p.Arg41Ser) n.333C>A c.15460C>A (p.Arg5154Ser) c.13768C>A (p.Arg4590Ser) | |
| 1 | g.186172062C= | CA1144969743 | HMCN1 | c.15745C= (p.Arg5249=) c.121C= (p.Arg41=) n.333C= c.15460C= (p.Arg5154=) c.13768C= (p.Arg4590=) | |
| 1 | g.186172062C>G | CA343933850 | HMCN1 | c.15745C>G (p.Arg5249Gly) c.121C>G (p.Arg41Gly) n.333C>G c.15460C>G (p.Arg5154Gly) c.13768C>G (p.Arg4590Gly) | |
| 1 | g.186172062C>T | CA1295362 | HMCN1 | c.15745C>T (p.Arg5249Cys) c.121C>T (p.Arg41Cys) n.333C>T c.15460C>T (p.Arg5154Cys) c.13768C>T (p.Arg4590Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.186172063G>A | CA1295363 | HMCN1 | c.15746G>A (p.Arg5249His) c.122G>A (p.Arg41His) n.334G>A c.15461G>A (p.Arg5154His) c.13769G>A (p.Arg4590His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |