Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.186174521T>A | CA1295399 | HMCN1 | c.15822T>A (p.Asp5274Glu) c.198T>A (p.Asp66Glu) c.15537T>A (p.Asp5179Glu) c.13845T>A (p.Asp4615Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186174521T>C | CA1295398 | HMCN1 | c.15822T>C (p.Asp5274=) c.198T>C (p.Asp66=) c.15537T>C (p.Asp5179=) c.13845T>C (p.Asp4615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186174521T>G | CA343934974 | HMCN1 | c.15822T>G (p.Asp5274Glu) c.198T>G (p.Asp66Glu) c.15537T>G (p.Asp5179Glu) c.13845T>G (p.Asp4615Glu) | |
1 | g.186174521T= | CA1140663342 | HMCN1 | c.15822T= (p.Asp5274=) c.198T= (p.Asp66=) c.15537T= (p.Asp5179=) c.13845T= (p.Asp4615=) | |
1 | g.186174522G>A | CA343935000 | HMCN1 | c.15823G>A (p.Glu5275Lys) c.199G>A (p.Glu67Lys) c.15538G>A (p.Glu5180Lys) c.13846G>A (p.Glu4616Lys) | |
1 | g.186174522G>C | CA343935004 | HMCN1 | c.15823G>C (p.Glu5275Gln) c.199G>C (p.Glu67Gln) c.15538G>C (p.Glu5180Gln) c.13846G>C (p.Glu4616Gln) | gnomAD v4 |
1 | g.186174522G>T | CA343935009 | HMCN1 | c.15823G>T (p.Glu5275Ter) c.199G>T (p.Glu67Ter) c.15538G>T (p.Glu5180Ter) c.13846G>T (p.Glu4616Ter) | |
1 | g.186174523A= | CA1213028330 | HMCN1 | c.15824A= (p.Glu5275=) c.200A= (p.Glu67=) c.15539A= (p.Glu5180=) c.13847A= (p.Glu4616=) | |
1 | g.186174523A>C | CA343935013 | HMCN1 | c.15824A>C (p.Glu5275Ala) c.200A>C (p.Glu67Ala) c.15539A>C (p.Glu5180Ala) c.13847A>C (p.Glu4616Ala) | |
1 | g.186174523A>G | CA343935020 | HMCN1 | c.15824A>G (p.Glu5275Gly) c.200A>G (p.Glu67Gly) c.15539A>G (p.Glu5180Gly) c.13847A>G (p.Glu4616Gly) | |
1 | g.186174523A>T | CA343935023 | HMCN1 | c.15824A>T (p.Glu5275Val) c.200A>T (p.Glu67Val) c.15539A>T (p.Glu5180Val) c.13847A>T (p.Glu4616Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.186174524A>C | CA343935025 | HMCN1 | c.15825A>C (p.Glu5275Asp) c.201A>C (p.Glu67Asp) c.15540A>C (p.Glu5180Asp) c.13848A>C (p.Glu4616Asp) | |
1 | g.186174524A>G | CA422334951 | HMCN1 | c.15825A>G (p.Glu5275=) c.201A>G (p.Glu67=) c.15540A>G (p.Glu5180=) c.13848A>G (p.Glu4616=) | gnomAD v4 |
1 | g.186174524A>T | CA343935028 | HMCN1 | c.15825A>T (p.Glu5275Asp) c.201A>T (p.Glu67Asp) c.15540A>T (p.Glu5180Asp) c.13848A>T (p.Glu4616Asp) | gnomAD v4 |
1 | g.186174525T>A | CA343935031 | HMCN1 | c.15826T>A (p.Cys5276Ser) c.202T>A (p.Cys68Ser) c.15541T>A (p.Cys5181Ser) c.13849T>A (p.Cys4617Ser) | |
1 | g.186174525T>C | CA343935032 | HMCN1 | c.15826T>C (p.Cys5276Arg) c.202T>C (p.Cys68Arg) c.15541T>C (p.Cys5181Arg) c.13849T>C (p.Cys4617Arg) | |
1 | g.186174525T>G | CA343935033 | HMCN1 | c.15826T>G (p.Cys5276Gly) c.202T>G (p.Cys68Gly) c.15541T>G (p.Cys5181Gly) c.13849T>G (p.Cys4617Gly) | |
1 | g.186174526G>A | CA343935037 | HMCN1 | c.15827G>A (p.Cys5276Tyr) c.203G>A (p.Cys68Tyr) c.15542G>A (p.Cys5181Tyr) c.13850G>A (p.Cys4617Tyr) | |
1 | g.186174526G>C | CA343935035 | HMCN1 | c.15827G>C (p.Cys5276Ser) c.203G>C (p.Cys68Ser) c.15542G>C (p.Cys5181Ser) c.13850G>C (p.Cys4617Ser) | |
1 | g.186174526G>T | CA343935034 | HMCN1 | c.15827G>T (p.Cys5276Phe) c.203G>T (p.Cys68Phe) c.15542G>T (p.Cys5181Phe) c.13850G>T (p.Cys4617Phe) | |
1 | g.186174527T>A | CA343935039 | HMCN1 | c.15828T>A (p.Cys5276Ter) c.204T>A (p.Cys68Ter) c.15543T>A (p.Cys5181Ter) c.13851T>A (p.Cys4617Ter) | |
1 | g.186174527T>C | CA1295400 | HMCN1 | c.15828T>C (p.Cys5276=) c.204T>C (p.Cys68=) c.15543T>C (p.Cys5181=) c.13851T>C (p.Cys4617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186174527T>G | CA343935048 | HMCN1 | c.15828T>G (p.Cys5276Trp) c.204T>G (p.Cys68Trp) c.15543T>G (p.Cys5181Trp) c.13851T>G (p.Cys4617Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.186174527T= | CA1147577410 | HMCN1 | c.15828T= (p.Cys5276=) c.204T= (p.Cys68=) c.15543T= (p.Cys5181=) c.13851T= (p.Cys4617=) | |
1 | g.186174528A>C | CA343935049 | HMCN1 | c.15829A>C (p.Lys5277Gln) c.205A>C (p.Lys69Gln) c.15544A>C (p.Lys5182Gln) c.13852A>C (p.Lys4618Gln) | |
1 | g.186174528A>G | CA343935050 | HMCN1 | c.15829A>G (p.Lys5277Glu) c.205A>G (p.Lys69Glu) c.15544A>G (p.Lys5182Glu) c.13852A>G (p.Lys4618Glu) | gnomAD v4 |
1 | g.186174528A>T | CA343935052 | HMCN1 | c.15829A>T (p.Lys5277Ter) c.205A>T (p.Lys69Ter) c.15544A>T (p.Lys5182Ter) c.13852A>T (p.Lys4618Ter) | |
1 | g.186174529A= | CA1213028331 | HMCN1 | c.15830A= (p.Lys5277=) c.206A= (p.Lys69=) c.15545A= (p.Lys5182=) c.13853A= (p.Lys4618=) | |
1 | g.186174529A>C | CA343935059 | HMCN1 | c.15830A>C (p.Lys5277Thr) c.206A>C (p.Lys69Thr) c.15545A>C (p.Lys5182Thr) c.13853A>C (p.Lys4618Thr) | |
1 | g.186174529A>G | CA343935077 | HMCN1 | c.15830A>G (p.Lys5277Arg) c.206A>G (p.Lys69Arg) c.15545A>G (p.Lys5182Arg) c.13853A>G (p.Lys4618Arg) | dbSNP gnomAD v4 |
1 | g.186174529A>T | CA343935095 | HMCN1 | c.15830A>T (p.Lys5277Ile) c.206A>T (p.Lys69Ile) c.15545A>T (p.Lys5182Ile) c.13853A>T (p.Lys4618Ile) | |
1 | g.186174530A>C | CA343935101 | HMCN1 | c.15831A>C (p.Lys5277Asn) c.207A>C (p.Lys69Asn) c.15546A>C (p.Lys5182Asn) c.13854A>C (p.Lys4618Asn) | |
1 | g.186174530A>G | CA422334955 | HMCN1 | c.15831A>G (p.Lys5277=) c.207A>G (p.Lys69=) c.15546A>G (p.Lys5182=) c.13854A>G (p.Lys4618=) | |
1 | g.186174530A>T | CA343935108 | HMCN1 | c.15831A>T (p.Lys5277Asn) c.207A>T (p.Lys69Asn) c.15546A>T (p.Lys5182Asn) c.13854A>T (p.Lys4618Asn) | COSMIC |
1 | g.186174531G>A | CA343935123 | HMCN1 | c.15832G>A (p.Asp5278Asn) c.208G>A (p.Asp70Asn) c.15547G>A (p.Asp5183Asn) c.13855G>A (p.Asp4619Asn) | gnomAD v4 |
1 | g.186174531G>C | CA343935119 | HMCN1 | c.15832G>C (p.Asp5278His) c.208G>C (p.Asp70His) c.15547G>C (p.Asp5183His) c.13855G>C (p.Asp4619His) | |
1 | g.186174531G= | CA1213028332 | HMCN1 | c.15832G= (p.Asp5278=) c.208G= (p.Asp70=) c.15547G= (p.Asp5183=) c.13855G= (p.Asp4619=) | |
1 | g.186174531G>T | CA343935111 | HMCN1 | c.15832G>T (p.Asp5278Tyr) c.208G>T (p.Asp70Tyr) c.15547G>T (p.Asp5183Tyr) c.13855G>T (p.Asp4619Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186174532A= | CA1148259476 | HMCN1 | c.15833A= (p.Asp5278=) c.209A= (p.Asp70=) c.15548A= (p.Asp5183=) c.13856A= (p.Asp4619=) | |
1 | g.186174532A>C | CA343935126 | HMCN1 | c.15833A>C (p.Asp5278Ala) c.209A>C (p.Asp70Ala) c.15548A>C (p.Asp5183Ala) c.13856A>C (p.Asp4619Ala) | |
1 | g.186174532A>G | CA1295401 | HMCN1 | c.15833A>G (p.Asp5278Gly) c.209A>G (p.Asp70Gly) c.15548A>G (p.Asp5183Gly) c.13856A>G (p.Asp4619Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.186174532A>T | CA343935134 | HMCN1 | c.15833A>T (p.Asp5278Val) c.209A>T (p.Asp70Val) c.15548A>T (p.Asp5183Val) c.13856A>T (p.Asp4619Val) | |
1 | g.186174533T>A | CA343935139 | HMCN1 | c.15834T>A (p.Asp5278Glu) c.210T>A (p.Asp70Glu) c.15549T>A (p.Asp5183Glu) c.13857T>A (p.Asp4619Glu) | |
1 | g.186174533T>C | CA1295402 | HMCN1 | c.15834T>C (p.Asp5278=) c.210T>C (p.Asp70=) c.15549T>C (p.Asp5183=) c.13857T>C (p.Asp4619=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.186174533T>G | CA343935143 | HMCN1 | c.15834T>G (p.Asp5278Glu) c.210T>G (p.Asp70Glu) c.15549T>G (p.Asp5183Glu) c.13857T>G (p.Asp4619Glu) | |
1 | g.186174533T= | CA1145092543 | HMCN1 | c.15834T= (p.Asp5278=) c.210T= (p.Asp70=) c.15549T= (p.Asp5183=) c.13857T= (p.Asp4619=) | |
1 | g.186174534G>A | CA343935145 | HMCN1 | c.15835G>A (p.Gly5279Arg) c.211G>A (p.Gly71Arg) c.15550G>A (p.Gly5184Arg) c.13858G>A (p.Gly4620Arg) | |
1 | g.186174534G>C | CA343935147 | HMCN1 | c.15835G>C (p.Gly5279Arg) c.211G>C (p.Gly71Arg) c.15550G>C (p.Gly5184Arg) c.13858G>C (p.Gly4620Arg) | |
1 | g.186174534G>T | CA343935151 | HMCN1 | c.15835G>T (p.Gly5279Trp) c.211G>T (p.Gly71Trp) c.15550G>T (p.Gly5184Trp) c.13858G>T (p.Gly4620Trp) | |
1 | g.186174535G>A | CA1295403 | HMCN1 | c.15836G>A (p.Gly5279Glu) c.212G>A (p.Gly71Glu) c.15551G>A (p.Gly5184Glu) c.13859G>A (p.Gly4620Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |