UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.185734761_185734772dup | CA1290711 | HMCN1 | c.-19_-8dup (n.-19_-8dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734761_185734772del | CA1290712 | HMCN1 | c.-19_-8del (n.-19_-8del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734767dup | CA1290719 | HMCN1 | c.-13dup (n.-13dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734766_185734767dup | CA2574100969 | HMCN1 | c.-14_-13dup (n.-14_-13dup) | gnomAD v4 |
| 1 | g.185734767del | CA2746972629 | HMCN1 | c.-13del (n.-13del) | |
| 1 | g.185734766_185734769delinsGGAA | CA1212846651 | HMCN1 | c.-14_-11delinsGGAA (n.-14_-11delinsGGAA) | |
| 1 | g.185734767G>A | CA2574100970 | HMCN1 | c.-13G>A (n.-13G>A) | gnomAD v4 |
| 1 | g.185734767_185734768delinsGA | CA1212846653 | HMCN1 | c.-13_-12delinsGA (n.-13_-12delinsGA) | |
| 1 | g.185734767_185734769del | CA33993178 | HMCN1 | c.-13_-11del (n.-13_-11del) | dbSNP |
| 1 | g.185734767_185734769delinsGAA | CA1141030001 | HMCN1 | c.-13_-11delinsGAA (n.-13_-11delinsGAA) | |
| 1 | g.185734768A= | CA1142569024 | HMCN1 | c.-12A= (n.-12A=) | |
| 1 | g.185734768A>C | CA2649546852 | HMCN1 | c.-12A>C (n.-12A>C) | gnomAD v4 |
| 1 | g.185734768A>G | CA1290722 | HMCN1 | c.-12A>G (n.-12A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.185734775dup | CA33993179 | HMCN1 | c.-5dup (n.-5dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.185734775del | CA1290721 | HMCN1 | c.-5del (n.-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734774_185734775del | CA2574100971 | HMCN1 | c.-6_-5del (n.-6_-5del) | gnomAD v4 |
| 1 | g.185734774_185734776delinsAAG | CA1212846654 | HMCN1 | c.-6_-4delinsAAG (n.-6_-4delinsAAG) | |
| 1 | g.185734775A>G | CA2649546853 | HMCN1 | c.-5A>G (n.-5A>G) | gnomAD v4 |
| 1 | g.185734775A>T | CA2746972630 | HMCN1 | c.-5A>T (n.-5A>T) | |
| 1 | g.185734776_185734777del | CA728632410 | HMCN1 | c.-4_-3del (n.-4_-3del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185734776G= | CA1212846655 | HMCN1 | c.-4G= (n.-4G=) | |
| 1 | g.185734776G>T | CA728632414 | HMCN1 | c.-4G>T (n.-4G>T) | dbSNP |
| 1 | g.185734776_185734778delinsGAA | CA1212846656 | HMCN1 | c.-4_-2delinsGAA (n.-4_-2delinsGAA) | |
| 1 | g.185734777A= | CA1212846657 | HMCN1 | c.-3A= (n.-3A=) | |
| 1 | g.185734777A>G | CA1290723 | HMCN1 | c.-3A>G (n.-3A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.185734779_185734780del | CA528080414 | HMCN1 | c.-1_1del (n.-1_1del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734780A>C | CA344057860 | HMCN1 | c.1A>C (p.Met1Leu) | |
| 1 | g.185734780A>G | CA344057859 | HMCN1 | c.1A>G (p.Met1Val) | gnomAD v4 |
| 1 | g.185734780A>T | CA344057858 | HMCN1 | c.1A>T (p.Met1Leu) | |
| 1 | g.185734781T>A | CA344057861 | HMCN1 | c.2T>A (p.Met1Lys) | |
| 1 | g.185734781T>C | CA344057862 | HMCN1 | c.2T>C (p.Met1Thr) | gnomAD v4 |
| 1 | g.185734781T>G | CA344057863 | HMCN1 | c.2T>G (p.Met1Arg) | |
| 1 | g.185734782G>A | CA344057864 | HMCN1 | c.3G>A (p.Met1Ile) | |
| 1 | g.185734782G>C | CA344057865 | HMCN1 | c.3G>C (p.Met1Ile) | |
| 1 | g.185734782G>T | CA344057866 | HMCN1 | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 1 | g.185734783A>C | CA344057867 | HMCN1 | c.4A>C (p.Ile2Leu) | |
| 1 | g.185734783A>G | CA344057868 | HMCN1 | c.4A>G (p.Ile2Val) | |
| 1 | g.185734783A>T | CA344057869 | HMCN1 | c.4A>T (p.Ile2Phe) | |
| 1 | g.185734784T>A | CA344057870 | HMCN1 | c.5T>A (p.Ile2Asn) | |
| 1 | g.185734784T>C | CA344057871 | HMCN1 | c.5T>C (p.Ile2Thr) | |
| 1 | g.185734784T>G | CA344057872 | HMCN1 | c.5T>G (p.Ile2Ser) | |
| 1 | g.185734785T>A | CA422519277 | HMCN1 | c.6T>A (p.Ile2=) | |
| 1 | g.185734785T>C | CA422519269 | HMCN1 | c.6T>C (p.Ile2=) | gnomAD v4 |
| 1 | g.185734785T>G | CA344057873 | HMCN1 | c.6T>G (p.Ile2Met) | |
| 1 | g.185734786T>A | CA344057875 | HMCN1 | c.7T>A (p.Ser3Thr) | |
| 1 | g.185734786T>C | CA344057876 | HMCN1 | c.7T>C (p.Ser3Pro) | gnomAD v4 |
| 1 | g.185734786T>G | CA344057874 | HMCN1 | c.7T>G (p.Ser3Ala) | |
| 1 | g.185734787C>A | CA1290724 | HMCN1 | c.8C>A (p.Ser3Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734787C= | CA1212846658 | HMCN1 | c.8C= (p.Ser3=) | |
| 1 | g.185734787C>G | CA344057877 | HMCN1 | c.8C>G (p.Ser3Cys) | dbSNP |
| 1 | g.185734787C>T | CA344057878 | HMCN1 | c.8C>T (p.Ser3Phe) | |
| 1 | g.185734788C>A | CA422519279 | HMCN1 | c.9C>A (p.Ser3=) | |
| 1 | g.185734788C= | CA1143845600 | HMCN1 | c.9C= (p.Ser3=) | |
| 1 | g.185734788C>G | CA422519280 | HMCN1 | c.9C>G (p.Ser3=) | |
| 1 | g.185734788C>T | CA1290725 | HMCN1 | c.9C>T (p.Ser3=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734789T>A | CA344057879 | HMCN1 | c.10T>A (p.Trp4Arg) | |
| 1 | g.185734789T>C | CA344057880 | HMCN1 | c.10T>C (p.Trp4Arg) | gnomAD v4 |
| 1 | g.185734789T>G | CA344057881 | HMCN1 | c.10T>G (p.Trp4Gly) | |
| 1 | g.185734790G>A | CA344057882 | HMCN1 | c.11G>A (p.Trp4Ter) | dbSNP gnomAD v4 |
| 1 | g.185734790G>C | CA344057883 | HMCN1 | c.11G>C (p.Trp4Ser) | |
| 1 | g.185734790G= | CA1212846659 | HMCN1 | c.11G= (p.Trp4=) | |
| 1 | g.185734790G>T | CA344057884 | HMCN1 | c.11G>T (p.Trp4Leu) | |
| 1 | g.185734791G>A | CA344057885 | HMCN1 | c.12G>A (p.Trp4Ter) | |
| 1 | g.185734791G>C | CA344057886 | HMCN1 | c.12G>C (p.Trp4Cys) | |
| 1 | g.185734791G>T | CA344057887 | HMCN1 | c.12G>T (p.Trp4Cys) | |
| 1 | g.185734792G>A | CA33993198 | HMCN1 | c.13G>A (p.Glu5Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.185734792G>C | CA344057888 | HMCN1 | c.13G>C (p.Glu5Gln) | |
| 1 | g.185734792G= | CA1212846660 | HMCN1 | c.13G= (p.Glu5=) | |
| 1 | g.185734792G>T | CA344057889 | HMCN1 | c.13G>T (p.Glu5Ter) | |
| 1 | g.185734793A= | CA1212846661 | HMCN1 | c.14A= (p.Glu5=) | |
| 1 | g.185734793A>C | CA344057890 | HMCN1 | c.14A>C (p.Glu5Ala) | |
| 1 | g.185734793A>G | CA1290726 | HMCN1 | c.14A>G (p.Glu5Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734793A>T | CA344057891 | HMCN1 | c.14A>T (p.Glu5Val) | |
| 1 | g.185734794A= | CA1212846662 | HMCN1 | c.15A= (p.Glu5=) | |
| 1 | g.185734794A>C | CA344057892 | HMCN1 | c.15A>C (p.Glu5Asp) | |
| 1 | g.185734794A>G | CA422519290 | HMCN1 | c.15A>G (p.Glu5=) | dbSNP gnomAD v4 |
| 1 | g.185734794A>T | CA344057893 | HMCN1 | c.15A>T (p.Glu5Asp) | |
| 1 | g.185734795G>A | CA33993199 | HMCN1 | c.16G>A (p.Val6Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.185734795G>C | CA344057894 | HMCN1 | c.16G>C (p.Val6Leu) | |
| 1 | g.185734795G= | CA1212846663 | HMCN1 | c.16G= (p.Val6=) | |
| 1 | g.185734795G>T | CA344057895 | HMCN1 | c.16G>T (p.Val6Phe) | gnomAD v4 |
| 1 | g.185734796T>A | CA344057896 | HMCN1 | c.17T>A (p.Val6Asp) | |
| 1 | g.185734796T>C | CA344057897 | HMCN1 | c.17T>C (p.Val6Ala) | gnomAD v4 |
| 1 | g.185734796T>G | CA344057898 | HMCN1 | c.17T>G (p.Val6Gly) | |
| 1 | g.185734797T>A | CA422519299 | HMCN1 | c.18T>A (p.Val6=) | |
| 1 | g.185734797T>C | CA422519300 | HMCN1 | c.18T>C (p.Val6=) | |
| 1 | g.185734797T>G | CA422519309 | HMCN1 | c.18T>G (p.Val6=) | |
| 1 | g.185734798G>A | CA344057900 | HMCN1 | c.19G>A (p.Val7Ile) | |
| 1 | g.185734798G>C | CA344057901 | HMCN1 | c.19G>C (p.Val7Leu) | |
| 1 | g.185734798G>T | CA344057899 | HMCN1 | c.19G>T (p.Val7Phe) | |
| 1 | g.185734799T>A | CA344057902 | HMCN1 | c.20T>A (p.Val7Asp) | |
| 1 | g.185734799T>C | CA344057903 | HMCN1 | c.20T>C (p.Val7Ala) | gnomAD v4 |
| 1 | g.185734799T>G | CA344057904 | HMCN1 | c.20T>G (p.Val7Gly) | |
| 1 | g.185734800C>A | CA1290727 | HMCN1 | c.21C>A (p.Val7=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734800C= | CA1212846664 | HMCN1 | c.21C= (p.Val7=) | |
| 1 | g.185734800C>G | CA422519311 | HMCN1 | c.21C>G (p.Val7=) | |
| 1 | g.185734800C>T | CA422519312 | HMCN1 | c.21C>T (p.Val7=) | |
| 1 | g.185734801C>A | CA344057905 | HMCN1 | c.22C>A (p.His8Asn) | |
| 1 | g.185734801C>G | CA344057906 | HMCN1 | c.22C>G (p.His8Asp) | |
| 1 | g.185734801C>T | CA344057907 | HMCN1 | c.22C>T (p.His8Tyr) | |
| 1 | g.185734802A= | CA1212846665 | HMCN1 | c.23A= (p.His8=) | |
| 1 | g.185734802A>C | CA344057908 | HMCN1 | c.23A>C (p.His8Pro) | |
| 1 | g.185734802A>G | CA344057909 | HMCN1 | c.23A>G (p.His8Arg) | |
| 1 | g.185734802A>T | CA344057910 | HMCN1 | c.23A>T (p.His8Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734802dup | CA2649546854 | HMCN1 | c.23dup (p.His8GlnfsTer26) | gnomAD v4 |
| 1 | g.185734803T>A | CA344057911 | HMCN1 | c.24T>A (p.His8Gln) | gnomAD v4 |
| 1 | g.185734803T>C | CA422519319 | HMCN1 | c.24T>C (p.His8=) | COSMIC |
| 1 | g.185734803T>G | CA344057912 | HMCN1 | c.24T>G (p.His8Gln) | |
| 1 | g.185734804A>C | CA344057914 | HMCN1 | c.25A>C (p.Thr9Pro) | |
| 1 | g.185734804A>G | CA344057915 | HMCN1 | c.25A>G (p.Thr9Ala) | |
| 1 | g.185734804A>T | CA344057913 | HMCN1 | c.25A>T (p.Thr9Ser) | |
| 1 | g.185734805C>A | CA344057916 | HMCN1 | c.26C>A (p.Thr9Lys) | |
| 1 | g.185734805C= | CA1142395235 | HMCN1 | c.26C= (p.Thr9=) | |
| 1 | g.185734805C>G | CA344057917 | HMCN1 | c.26C>G (p.Thr9Arg) | |
| 1 | g.185734805C>T | CA1290728 | HMCN1 | c.26C>T (p.Thr9Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734806A= | CA1212846666 | HMCN1 | c.27A= (p.Thr9=) | |
| 1 | g.185734806A>C | CA422519322 | HMCN1 | c.27A>C (p.Thr9=) | |
| 1 | g.185734806A>G | CA422519323 | HMCN1 | c.27A>G (p.Thr9=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734806A>T | CA422519325 | HMCN1 | c.27A>T (p.Thr9=) | |
| 1 | g.185734807G>A | CA1290729 | HMCN1 | c.28G>A (p.Val10Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734807G>C | CA344057918 | HMCN1 | c.28G>C (p.Val10Leu) | |
| 1 | g.185734807G= | CA1212846667 | HMCN1 | c.28G= (p.Val10=) | |
| 1 | g.185734807G>T | CA344057919 | HMCN1 | c.28G>T (p.Val10Leu) | |
| 1 | g.185734808T>A | CA344057922 | HMCN1 | c.29T>A (p.Val10Glu) | |
| 1 | g.185734808T>C | CA344057920 | HMCN1 | c.29T>C (p.Val10Ala) | gnomAD v4 |
| 1 | g.185734808T>G | CA344057921 | HMCN1 | c.29T>G (p.Val10Gly) | |
| 1 | g.185734809A>C | CA422519329 | HMCN1 | c.30A>C (p.Val10=) | |
| 1 | g.185734809A>G | CA422519335 | HMCN1 | c.30A>G (p.Val10=) | ClinVar gnomAD v4 |
| 1 | g.185734809A>T | CA422519337 | HMCN1 | c.30A>T (p.Val10=) | |
| 1 | g.185734810T>A | CA344057923 | HMCN1 | c.31T>A (p.Phe11Ile) | |
| 1 | g.185734810T>C | CA344057924 | HMCN1 | c.31T>C (p.Phe11Leu) | |
| 1 | g.185734810T>G | CA344057925 | HMCN1 | c.31T>G (p.Phe11Val) | |
| 1 | g.185734811T>A | CA344057926 | HMCN1 | c.32T>A (p.Phe11Tyr) | |
| 1 | g.185734811T>C | CA1290730 | HMCN1 | c.32T>C (p.Phe11Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734811T>G | CA344057927 | HMCN1 | c.32T>G (p.Phe11Cys) | |
| 1 | g.185734811T= | CA1212846668 | HMCN1 | c.32T= (p.Phe11=) | |
| 1 | g.185734812C>A | CA344057929 | HMCN1 | c.33C>A (p.Phe11Leu) | gnomAD v4 |
| 1 | g.185734812C>G | CA344057928 | HMCN1 | c.33C>G (p.Phe11Leu) | |
| 1 | g.185734812C>T | CA422519346 | HMCN1 | c.33C>T (p.Phe11=) | |
| 1 | g.185734813C>A | CA344057930 | HMCN1 | c.34C>A (p.Leu12Met) | |
| 1 | g.185734813C= | CA1212846669 | HMCN1 | c.34C= (p.Leu12=) | |
| 1 | g.185734813C>G | CA344057931 | HMCN1 | c.34C>G (p.Leu12Val) | |
| 1 | g.185734813C>T | CA422519350 | HMCN1 | c.34C>T (p.Leu12=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.185734814T>A | CA344057932 | HMCN1 | c.35T>A (p.Leu12Gln) | |
| 1 | g.185734814T>C | CA344057933 | HMCN1 | c.35T>C (p.Leu12Pro) | |
| 1 | g.185734814T>G | CA344057934 | HMCN1 | c.35T>G (p.Leu12Arg) | |
| 1 | g.185734815G>A | CA422519354 | HMCN1 | c.36G>A (p.Leu12=) | dbSNP gnomAD v4 |
| 1 | g.185734815G>C | CA1290731 | HMCN1 | c.36G>C (p.Leu12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734815G= | CA1141003154 | HMCN1 | c.36G= (p.Leu12=) | |
| 1 | g.185734815G>T | CA422519357 | HMCN1 | c.36G>T (p.Leu12=) | |
| 1 | g.185734816T>A | CA344057935 | HMCN1 | c.37T>A (p.Phe13Ile) | |
| 1 | g.185734816T>C | CA344057936 | HMCN1 | c.37T>C (p.Phe13Leu) | |
| 1 | g.185734816T>G | CA344057937 | HMCN1 | c.37T>G (p.Phe13Val) | |
| 1 | g.185734817T>A | CA344057938 | HMCN1 | c.38T>A (p.Phe13Tyr) | |
| 1 | g.185734817T>C | CA344057939 | HMCN1 | c.38T>C (p.Phe13Ser) | |
| 1 | g.185734817T>G | CA344057940 | HMCN1 | c.38T>G (p.Phe13Cys) | |
| 1 | g.185734818T>A | CA344057941 | HMCN1 | c.39T>A (p.Phe13Leu) | |
| 1 | g.185734818T>C | CA422519367 | HMCN1 | c.39T>C (p.Phe13=) | |
| 1 | g.185734818T>G | CA344057942 | HMCN1 | c.39T>G (p.Phe13Leu) | |
| 1 | g.185734819G>A | CA344057945 | HMCN1 | c.40G>A (p.Ala14Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734819G>C | CA344057943 | HMCN1 | c.40G>C (p.Ala14Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734819G= | CA1212846670 | HMCN1 | c.40G= (p.Ala14=) | |
| 1 | g.185734819G>T | CA344057944 | HMCN1 | c.40G>T (p.Ala14Ser) | |
| 1 | g.185734820C>A | CA344057946 | HMCN1 | c.41C>A (p.Ala14Asp) | gnomAD v4 |
| 1 | g.185734820C= | CA1148248570 | HMCN1 | c.41C= (p.Ala14=) | |
| 1 | g.185734820C>G | CA344057947 | HMCN1 | c.41C>G (p.Ala14Gly) | |
| 1 | g.185734820C>T | CA1290732 | HMCN1 | c.41C>T (p.Ala14Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734820_185734823delinsCTCT | CA1212846671 | HMCN1 | c.41_44delinsCTCT (p.Ala14=) | |
| 1 | g.185734821T>A | CA422519374 | HMCN1 | c.42T>A (p.Ala14=) | |
| 1 | g.185734821T>C | CA422519375 | HMCN1 | c.42T>C (p.Ala14=) | gnomAD v4 |
| 1 | g.185734821T>G | CA422519376 | HMCN1 | c.42T>G (p.Ala14=) | |
| 1 | g.185734825_185734827del | CA728632528 | HMCN1 | c.46_48del (p.Leu16del) | dbSNP gnomAD v4 |
| 1 | g.185734822C>A | CA344057948 | HMCN1 | c.43C>A (p.Leu15Ile) | |
| 1 | g.185734822C>G | CA344057949 | HMCN1 | c.43C>G (p.Leu15Val) | |
| 1 | g.185734822C>T | CA344057950 | HMCN1 | c.43C>T (p.Leu15Phe) | |
| 1 | g.185734823T>A | CA344057951 | HMCN1 | c.44T>A (p.Leu15His) | |
| 1 | g.185734823T>C | CA344057952 | HMCN1 | c.44T>C (p.Leu15Pro) | |
| 1 | g.185734823T>G | CA344057953 | HMCN1 | c.44T>G (p.Leu15Arg) | gnomAD v4 |
| 1 | g.185734824T>A | CA422519380 | HMCN1 | c.45T>A (p.Leu15=) | |
| 1 | g.185734824T>C | CA422519379 | HMCN1 | c.45T>C (p.Leu15=) | |
| 1 | g.185734824T>G | CA422519378 | HMCN1 | c.45T>G (p.Leu15=) | |
| 1 | g.185734825C>A | CA344057954 | HMCN1 | c.46C>A (p.Leu16Ile) | |
| 1 | g.185734825C>G | CA344057955 | HMCN1 | c.46C>G (p.Leu16Val) | COSMIC |
| 1 | g.185734825C>T | CA344057956 | HMCN1 | c.46C>T (p.Leu16Phe) | |
| 1 | g.185734826T>A | CA344057959 | HMCN1 | c.47T>A (p.Leu16His) | gnomAD v4 |
| 1 | g.185734826T>C | CA344057958 | HMCN1 | c.47T>C (p.Leu16Pro) | |
| 1 | g.185734826T>G | CA344057957 | HMCN1 | c.47T>G (p.Leu16Arg) | |
| 1 | g.185734827T>A | CA422519386 | HMCN1 | c.48T>A (p.Leu16=) | |
| 1 | g.185734827T>C | CA422519384 | HMCN1 | c.48T>C (p.Leu16=) | |
| 1 | g.185734827T>G | CA422519383 | HMCN1 | c.48T>G (p.Leu16=) | |
| 1 | g.185734828T>A | CA344057962 | HMCN1 | c.49T>A (p.Tyr17Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734828T>C | CA344057960 | HMCN1 | c.49T>C (p.Tyr17His) | gnomAD v4 |
| 1 | g.185734828T>G | CA344057961 | HMCN1 | c.49T>G (p.Tyr17Asp) | |
| 1 | g.185734828T= | CA1212846672 | HMCN1 | c.49T= (p.Tyr17=) | |
| 1 | g.185734829A= | CA1144067057 | HMCN1 | c.50A= (p.Tyr17=) | |
| 1 | g.185734829A>C | CA344057963 | HMCN1 | c.50A>C (p.Tyr17Ser) | |
| 1 | g.185734829A>G | CA1290733 | HMCN1 | c.50A>G (p.Tyr17Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734829A>T | CA344057964 | HMCN1 | c.50A>T (p.Tyr17Phe) | ClinVar dbSNP |
| 1 | g.185734830T>A | CA344057965 | HMCN1 | c.51T>A (p.Tyr17Ter) | |
| 1 | g.185734830T>C | CA422519398 | HMCN1 | c.51T>C (p.Tyr17=) | |
| 1 | g.185734830T>G | CA344057966 | HMCN1 | c.51T>G (p.Tyr17Ter) | gnomAD v4 |
| 1 | g.185734831T>A | CA344057967 | HMCN1 | c.52T>A (p.Ser18Thr) | |
| 1 | g.185734831T>C | CA344057969 | HMCN1 | c.52T>C (p.Ser18Pro) | |
| 1 | g.185734831T>G | CA344057968 | HMCN1 | c.52T>G (p.Ser18Ala) | |
| 1 | g.185734832C>A | CA344057970 | HMCN1 | c.53C>A (p.Ser18Tyr) | |
| 1 | g.185734832C>G | CA344057971 | HMCN1 | c.53C>G (p.Ser18Cys) | |
| 1 | g.185734832C>T | CA344057972 | HMCN1 | c.53C>T (p.Ser18Phe) | |
| 1 | g.185734833T>A | CA422519405 | HMCN1 | c.54T>A (p.Ser18=) | |
| 1 | g.185734833T>C | CA1290734 | HMCN1 | c.54T>C (p.Ser18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734833T>G | CA422519409 | HMCN1 | c.54T>G (p.Ser18=) | |
| 1 | g.185734833T= | CA1145762430 | HMCN1 | c.54T= (p.Ser18=) | |
| 1 | g.185734834T>A | CA344057973 | HMCN1 | c.55T>A (p.Ser19Thr) | |
| 1 | g.185734834T>C | CA344057975 | HMCN1 | c.55T>C (p.Ser19Pro) | |
| 1 | g.185734834T>G | CA344057974 | HMCN1 | c.55T>G (p.Ser19Ala) | |
| 1 | g.185734835C>A | CA344057976 | HMCN1 | c.56C>A (p.Ser19Tyr) | |
| 1 | g.185734835C>G | CA344057977 | HMCN1 | c.56C>G (p.Ser19Cys) | |
| 1 | g.185734835C>T | CA344057978 | HMCN1 | c.56C>T (p.Ser19Phe) | gnomAD v4 |
| 1 | g.185734836C>A | CA422519411 | HMCN1 | c.57C>A (p.Ser19=) | gnomAD v4 |
| 1 | g.185734836C= | CA1141385194 | HMCN1 | c.57C= (p.Ser19=) | |
| 1 | g.185734836C>G | CA422519412 | HMCN1 | c.57C>G (p.Ser19=) | |
| 1 | g.185734836C>T | CA1290735 | HMCN1 | c.57C>T (p.Ser19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734837C>A | CA344057979 | HMCN1 | c.58C>A (p.Leu20Ile) | |
| 1 | g.185734837C= | CA1212846673 | HMCN1 | c.58C= (p.Leu20=) | |
| 1 | g.185734837C>G | CA344057980 | HMCN1 | c.58C>G (p.Leu20Val) | gnomAD v4 |
| 1 | g.185734837C>T | CA33993213 | HMCN1 | c.58C>T (p.Leu20=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.185734838T>A | CA344057981 | HMCN1 | c.59T>A (p.Leu20Gln) | |
| 1 | g.185734838T>C | CA344057982 | HMCN1 | c.59T>C (p.Leu20Pro) | ClinVar |
| 1 | g.185734838T>G | CA344057983 | HMCN1 | c.59T>G (p.Leu20Arg) | |
| 1 | g.185734839A>C | CA422519422 | HMCN1 | c.60A>C (p.Leu20=) | |
| 1 | g.185734839A>G | CA422519423 | HMCN1 | c.60A>G (p.Leu20=) | |
| 1 | g.185734839A>T | CA422519424 | HMCN1 | c.60A>T (p.Leu20=) | |
| 1 | g.185734840G>A | CA344057984 | HMCN1 | c.61G>A (p.Ala21Thr) | |
| 1 | g.185734840G>C | CA344057985 | HMCN1 | c.61G>C (p.Ala21Pro) | |
| 1 | g.185734840G>T | CA344057986 | HMCN1 | c.61G>T (p.Ala21Ser) | |
| 1 | g.185734841C>A | CA344057987 | HMCN1 | c.62C>A (p.Ala21Asp) | |
| 1 | g.185734841C= | CA1212846674 | HMCN1 | c.62C= (p.Ala21=) | |
| 1 | g.185734841C>G | CA344057988 | HMCN1 | c.62C>G (p.Ala21Gly) | |
| 1 | g.185734841C>T | CA1290736 | HMCN1 | c.62C>T (p.Ala21Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734842T>A | CA422519434 | HMCN1 | c.63T>A (p.Ala21=) | ClinVar |
| 1 | g.185734842T>C | CA1290737 | HMCN1 | c.63T>C (p.Ala21=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.185734842T>G | CA422519438 | HMCN1 | c.63T>G (p.Ala21=) | |
| 1 | g.185734842T= | CA1212846675 | HMCN1 | c.63T= (p.Ala21=) | |
| 1 | g.185734843C>A | CA344057989 | HMCN1 | c.64C>A (p.Gln22Lys) | |
| 1 | g.185734843C>G | CA344057990 | HMCN1 | c.64C>G (p.Gln22Glu) | |
| 1 | g.185734843C>T | CA344057991 | HMCN1 | c.64C>T (p.Gln22Ter) | |
| 1 | g.185734844A= | CA1148484226 | HMCN1 | c.65A= (p.Gln22=) | |
| 1 | g.185734844A>C | CA344057992 | HMCN1 | c.65A>C (p.Gln22Pro) | |
| 1 | g.185734844A>G | CA1290738 | HMCN1 | c.65A>G (p.Gln22Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734844A>T | CA344057993 | HMCN1 | c.65A>T (p.Gln22Leu) | |
| 1 | g.185734845A>C | CA344057994 | HMCN1 | c.66A>C (p.Gln22His) | |
| 1 | g.185734845A>G | CA422519445 | HMCN1 | c.66A>G (p.Gln22=) | |
| 1 | g.185734845A>T | CA344057995 | HMCN1 | c.66A>T (p.Gln22His) | |
| 1 | g.185734846G>A | CA344057996 | HMCN1 | c.67G>A (p.Asp23Asn) | |
| 1 | g.185734846G>C | CA344057997 | HMCN1 | c.67G>C (p.Asp23His) | |
| 1 | g.185734846G>T | CA344057998 | HMCN1 | c.67G>T (p.Asp23Tyr) | |
| 1 | g.185734847A>C | CA344057999 | HMCN1 | c.68A>C (p.Asp23Ala) | |
| 1 | g.185734847A>G | CA344058000 | HMCN1 | c.68A>G (p.Asp23Gly) | |
| 1 | g.185734847A>T | CA344058001 | HMCN1 | c.68A>T (p.Asp23Val) | |
| 1 | g.185734848T>A | CA344058002 | HMCN1 | c.69T>A (p.Asp23Glu) | |
| 1 | g.185734848T>C | CA422519453 | HMCN1 | c.69T>C (p.Asp23=) | |
| 1 | g.185734848T>G | CA344058003 | HMCN1 | c.69T>G (p.Asp23Glu) | |
| 1 | g.185734849G>A | CA344058004 | HMCN1 | c.70G>A (p.Ala24Thr) | dbSNP |
| 1 | g.185734849G>C | CA344058005 | HMCN1 | c.70G>C (p.Ala24Pro) | |
| 1 | g.185734849G= | CA1212846676 | HMCN1 | c.70G= (p.Ala24=) | |
| 1 | g.185734849G>T | CA344058006 | HMCN1 | c.70G>T (p.Ala24Ser) | |
| 1 | g.185734850C>A | CA344058007 | HMCN1 | c.71C>A (p.Ala24Glu) | gnomAD v4 |
| 1 | g.185734850C= | CA1212846677 | HMCN1 | c.71C= (p.Ala24=) | |
| 1 | g.185734850C>G | CA344058008 | HMCN1 | c.71C>G (p.Ala24Gly) | |
| 1 | g.185734850C>T | CA344058009 | HMCN1 | c.71C>T (p.Ala24Val) | dbSNP gnomAD v4 |
| 1 | g.185734851G>A | CA1290739 | HMCN1 | c.72G>A (p.Ala24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734851G>C | CA422519461 | HMCN1 | c.72G>C (p.Ala24=) | gnomAD v4 |
| 1 | g.185734851G= | CA1212846678 | HMCN1 | c.72G= (p.Ala24=) | |
| 1 | g.185734851G>T | CA422519460 | HMCN1 | c.72G>T (p.Ala24=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734852A>C | CA344058010 | HMCN1 | c.73A>C (p.Ser25Arg) | |
| 1 | g.185734852A>G | CA344058011 | HMCN1 | c.73A>G (p.Ser25Gly) | gnomAD v4 |
| 1 | g.185734852A>T | CA344058012 | HMCN1 | c.73A>T (p.Ser25Cys) | |
| 1 | g.185734853G>A | CA344058013 | HMCN1 | c.74G>A (p.Ser25Asn) | |
| 1 | g.185734853G>C | CA344058014 | HMCN1 | c.74G>C (p.Ser25Thr) | |
| 1 | g.185734853G>T | CA344058015 | HMCN1 | c.74G>T (p.Ser25Ile) | |
| 1 | g.185734854C>A | CA344058016 | HMCN1 | c.75C>A (p.Ser25Arg) | gnomAD v4 |
| 1 | g.185734854C= | CA1212846679 | HMCN1 | c.75C= (p.Ser25=) | |
| 1 | g.185734854C>G | CA344058017 | HMCN1 | c.75C>G (p.Ser25Arg) | |
| 1 | g.185734854C>T | CA1290740 | HMCN1 | c.75C>T (p.Ser25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734858del | CA2567669290 | HMCN1 | c.79del (p.Gln27SerfsTer22) | gnomAD v4 |
| 1 | g.185734855C>A | CA344058018 | HMCN1 | c.76C>A (p.Pro26Thr) | |
| 1 | g.185734855C= | CA1143491055 | HMCN1 | c.76C= (p.Pro26=) | |
| 1 | g.185734855C>G | CA344058019 | HMCN1 | c.76C>G (p.Pro26Ala) | |
| 1 | g.185734855C>T | CA1290741 | HMCN1 | c.76C>T (p.Pro26Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.185734856C>A | CA344058020 | HMCN1 | c.77C>A (p.Pro26His) | |
| 1 | g.185734856C= | CA1212846680 | HMCN1 | c.77C= (p.Pro26=) | |
| 1 | g.185734856C>G | CA344058021 | HMCN1 | c.77C>G (p.Pro26Arg) | |
| 1 | g.185734856C>T | CA344058022 | HMCN1 | c.77C>T (p.Pro26Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734857C>A | CA422519470 | HMCN1 | c.78C>A (p.Pro26=) | |
| 1 | g.185734857C= | CA1212846681 | HMCN1 | c.78C= (p.Pro26=) | |
| 1 | g.185734857C>G | CA1290742 | HMCN1 | c.78C>G (p.Pro26=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.185734857C>T | CA422519472 | HMCN1 | c.78C>T (p.Pro26=) | |
| 1 | g.185734858C>A | CA344058023 | HMCN1 | c.79C>A (p.Gln27Lys) | |
| 1 | g.185734858C>G | CA344058024 | HMCN1 | c.79C>G (p.Gln27Glu) | ClinVar |
| 1 | g.185734858C>T | CA344058025 | HMCN1 | c.79C>T (p.Gln27Ter) | |
| 1 | g.185734861_185734864del | CA2649546855 | HMCN1 | c.82_85del (p.Ser28ArgfsTer20) | gnomAD v4 |
| 1 | g.185734859A= | CA1212846682 | HMCN1 | c.80A= (p.Gln27=) | |
| 1 | g.185734859A>C | CA344058026 | HMCN1 | c.80A>C (p.Gln27Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.185734859A>G | CA344058027 | HMCN1 | c.80A>G (p.Gln27Arg) | |
| 1 | g.185734859A>T | CA344058028 | HMCN1 | c.80A>T (p.Gln27Leu) | |
| 1 | g.185734860G>A | CA422519479 | HMCN1 | c.81G>A (p.Gln27=) | |
| 1 | g.185734860G>C | CA344058029 | HMCN1 | c.81G>C (p.Gln27His) | |
| 1 | g.185734860G>T | CA344058030 | HMCN1 | c.81G>T (p.Gln27His) | |
| 1 | g.185734861T>A | CA344058031 | HMCN1 | c.82T>A (p.Ser28Thr) | |
| 1 | g.185734861T>C | CA344058032 | HMCN1 | c.82T>C (p.Ser28Pro) | |
| 1 | g.185734861T>G | CA344058033 | HMCN1 | c.82T>G (p.Ser28Ala) | |
| 1 | g.185734862C>A | CA344058034 | HMCN1 | c.83C>A (p.Ser28Ter) | |
| 1 | g.185734862C>G | CA344058035 | HMCN1 | c.83C>G (p.Ser28Ter) | |
| 1 | g.185734862C>T | CA344058036 | HMCN1 | c.83C>T (p.Ser28Leu) | gnomAD v4 |
| 1 | g.185734863A= | CA1212846683 | HMCN1 | c.84A= (p.Ser28=) | |
| 1 | g.185734863A>C | CA422519488 | HMCN1 | c.84A>C (p.Ser28=) | gnomAD v4 |
| 1 | g.185734863A>G | CA422519489 | HMCN1 | c.84A>G (p.Ser28=) | dbSNP |
| 1 | g.185734863A>T | CA422519490 | HMCN1 | c.84A>T (p.Ser28=) | |
| 1 | g.185734864G>A | CA344058037 | HMCN1 | c.85G>A (p.Glu29Lys) | gnomAD v4 |
| 1 | g.185734864G>C | CA344058038 | HMCN1 | c.85G>C (p.Glu29Gln) | dbSNP |
| 1 | g.185734864G= | CA1212846684 | HMCN1 | c.85G= (p.Glu29=) | |
| 1 | g.185734864G>T | CA344058039 | HMCN1 | c.85G>T (p.Glu29Ter) | |
| 1 | g.185734865A>C | CA344058040 | HMCN1 | c.86A>C (p.Glu29Ala) | |
| 1 | g.185734865A>G | CA344058041 | HMCN1 | c.86A>G (p.Glu29Gly) | |
| 1 | g.185734865A>T | CA344058042 | HMCN1 | c.86A>T (p.Glu29Val) | |
| 1 | g.185734866G>A | CA422519495 | HMCN1 | c.87G>A (p.Glu29=) | |
| 1 | g.185734866G>C | CA344058044 | HMCN1 | c.87G>C (p.Glu29Asp) | |
| 1 | g.185734866G= | CA1212846685 | HMCN1 | c.87G= (p.Glu29=) | |
| 1 | g.185734866G>T | CA344058043 | HMCN1 | c.87G>T (p.Glu29Asp) | dbSNP |
| 1 | g.185734867A>C | CA344058045 | HMCN1 | c.88A>C (p.Ile30Leu) | |
| 1 | g.185734867A>G | CA344058047 | HMCN1 | c.88A>G (p.Ile30Val) | |
| 1 | g.185734867A>T | CA344058046 | HMCN1 | c.88A>T (p.Ile30Phe) |