| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.186095384A>C | CA343930654 | HMCN1 | c.10436A>C (p.Asp3479Ala) c.10151A>C (p.Asp3384Ala) c.*84A>C (n.*84A>C) c.8459A>C (p.Asp2820Ala) | |
| 1 | g.186095384A>G | CA343930665 | HMCN1 | c.10436A>G (p.Asp3479Gly) c.10151A>G (p.Asp3384Gly) c.*84A>G (n.*84A>G) c.8459A>G (p.Asp2820Gly) | |
| 1 | g.186095384A>T | CA343930666 | HMCN1 | c.10436A>T (p.Asp3479Val) c.10151A>T (p.Asp3384Val) c.*84A>T (n.*84A>T) c.8459A>T (p.Asp2820Val) | |
| 1 | g.186095385T>A | CA1293724 | HMCN1 | c.10437T>A (p.Asp3479Glu) c.10152T>A (p.Asp3384Glu) c.*85T>A (n.*85T>A) c.8460T>A (p.Asp2820Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186095385T>C | CA422513696 | HMCN1 | c.10437T>C (p.Asp3479=) c.10152T>C (p.Asp3384=) c.*85T>C (n.*85T>C) c.8460T>C (p.Asp2820=) | |
| 1 | g.186095385T>G | CA343930669 | HMCN1 | c.10437T>G (p.Asp3479Glu) c.10152T>G (p.Asp3384Glu) c.*85T>G (n.*85T>G) c.8460T>G (p.Asp2820Glu) | |
| 1 | g.186095385T= | CA1143575197 | HMCN1 | c.10437T= (p.Asp3479=) c.10152T= (p.Asp3384=) c.*85T= (n.*85T=) c.8460T= (p.Asp2820=) | |
| 1 | g.186095386G>A | CA343930678 | HMCN1 | c.10438G>A (p.Ala3480Thr) c.10153G>A (p.Ala3385Thr) c.*86G>A (n.*86G>A) c.8461G>A (p.Ala2821Thr) | gnomAD v4 |
| 1 | g.186095386G>C | CA343930674 | HMCN1 | c.10438G>C (p.Ala3480Pro) c.10153G>C (p.Ala3385Pro) c.*86G>C (n.*86G>C) c.8461G>C (p.Ala2821Pro) | |
| 1 | g.186095386G>T | CA343930672 | HMCN1 | c.10438G>T (p.Ala3480Ser) c.10153G>T (p.Ala3385Ser) c.*86G>T (n.*86G>T) c.8461G>T (p.Ala2821Ser) | |
| 1 | g.186095387C>A | CA343930682 | HMCN1 | c.10439C>A (p.Ala3480Asp) c.10154C>A (p.Ala3385Asp) c.8462C>A (p.Ala2821Asp) c.*87C>A (n.*87C>A) | |
| 1 | g.186095387C= | CA1212995201 | HMCN1 | c.10439C= (p.Ala3480=) c.10154C= (p.Ala3385=) c.8462C= (p.Ala2821=) c.*87C= (n.*87C=) | |
| 1 | g.186095387C>G | CA343930697 | HMCN1 | c.10439C>G (p.Ala3480Gly) c.10154C>G (p.Ala3385Gly) c.8462C>G (p.Ala2821Gly) c.*87C>G (n.*87C>G) | |
| 1 | g.186095387C>T | CA343930686 | HMCN1 | c.10439C>T (p.Ala3480Val) c.10154C>T (p.Ala3385Val) c.8462C>T (p.Ala2821Val) c.*87C>T (n.*87C>T) | dbSNP |
| 1 | g.186095389dup | CA2994116870 | HMCN1 | c.10441dup (p.His3481ProfsTer19) c.10156dup (p.His3386ProfsTer19) c.8464dup (p.His2822ProfsTer19) c.*89dup (n.*89dup) | |
| 1 | g.186095388C>A | CA422513698 | HMCN1 | c.10440C>A (p.Ala3480=) c.10155C>A (p.Ala3385=) c.8463C>A (p.Ala2821=) c.*88C>A (n.*88C>A) | |
| 1 | g.186095388C>G | CA422513699 | HMCN1 | c.10440C>G (p.Ala3480=) c.10155C>G (p.Ala3385=) c.8463C>G (p.Ala2821=) c.*88C>G (n.*88C>G) | |
| 1 | g.186095388C>T | CA422513700 | HMCN1 | c.10440C>T (p.Ala3480=) c.10155C>T (p.Ala3385=) c.8463C>T (p.Ala2821=) c.*88C>T (n.*88C>T) | |
| 1 | g.186095389C>A | CA343930700 | HMCN1 | c.10441C>A (p.His3481Asn) c.10156C>A (p.His3386Asn) c.8464C>A (p.His2822Asn) c.*89C>A (n.*89C>A) | |
| 1 | g.186095389C>G | CA343930701 | HMCN1 | c.10441C>G (p.His3481Asp) c.10156C>G (p.His3386Asp) c.8464C>G (p.His2822Asp) c.*89C>G (n.*89C>G) | ClinVar |
| 1 | g.186095389C>T | CA343930703 | HMCN1 | c.10441C>T (p.His3481Tyr) c.10156C>T (p.His3386Tyr) c.8464C>T (p.His2822Tyr) c.*89C>T (n.*89C>T) | |
| 1 | g.186095390A= | CA1212995202 | HMCN1 | c.10442A= (p.His3481=) c.10157A= (p.His3386=) c.8465A= (p.His2822=) c.*90A= (n.*90A=) | |
| 1 | g.186095390A>C | CA343930707 | HMCN1 | c.10442A>C (p.His3481Pro) c.10157A>C (p.His3386Pro) c.8465A>C (p.His2822Pro) c.*90A>C (n.*90A>C) | |
| 1 | g.186095390A>G | CA1293725 | HMCN1 | c.10442A>G (p.His3481Arg) c.10157A>G (p.His3386Arg) c.8465A>G (p.His2822Arg) c.*90A>G (n.*90A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186095390A>T | CA343930714 | HMCN1 | c.10442A>T (p.His3481Leu) c.10157A>T (p.His3386Leu) c.8465A>T (p.His2822Leu) c.*90A>T (n.*90A>T) | |
| 1 | g.186095391T>A | CA343930719 | HMCN1 | c.10443T>A (p.His3481Gln) c.10158T>A (p.His3386Gln) c.8466T>A (p.His2822Gln) c.*91T>A (n.*91T>A) | |
| 1 | g.186095391T>C | CA422513706 | HMCN1 | c.10443T>C (p.His3481=) c.10158T>C (p.His3386=) c.8466T>C (p.His2822=) c.*91T>C (n.*91T>C) | |
| 1 | g.186095391T>G | CA343930726 | HMCN1 | c.10443T>G (p.His3481Gln) c.10158T>G (p.His3386Gln) c.8466T>G (p.His2822Gln) c.*91T>G (n.*91T>G) | |
| 1 | g.186095392C>A | CA343930727 | HMCN1 | c.10444C>A (p.Leu3482Met) c.10159C>A (p.Leu3387Met) c.8467C>A (p.Leu2823Met) c.*92C>A (n.*92C>A) | gnomAD v4 |
| 1 | g.186095392C>G | CA343930728 | HMCN1 | c.10444C>G (p.Leu3482Val) c.10159C>G (p.Leu3387Val) c.8467C>G (p.Leu2823Val) c.*92C>G (n.*92C>G) | |
| 1 | g.186095392C>T | CA422513713 | HMCN1 | c.10444C>T (p.Leu3482=) c.10159C>T (p.Leu3387=) c.8467C>T (p.Leu2823=) c.*92C>T (n.*92C>T) | |
| 1 | g.186095393T>A | CA343930731 | HMCN1 | c.10445T>A (p.Leu3482Gln) c.10160T>A (p.Leu3387Gln) c.8468T>A (p.Leu2823Gln) c.*93T>A (n.*93T>A) | |
| 1 | g.186095393T>C | CA343930730 | HMCN1 | c.10445T>C (p.Leu3482Pro) c.10160T>C (p.Leu3387Pro) c.8468T>C (p.Leu2823Pro) c.*93T>C (n.*93T>C) | |
| 1 | g.186095393T>G | CA343930729 | HMCN1 | c.10445T>G (p.Leu3482Arg) c.10160T>G (p.Leu3387Arg) c.8468T>G (p.Leu2823Arg) c.*93T>G (n.*93T>G) | |
| 1 | g.186095394G>A | CA422513715 | HMCN1 | c.10446G>A (p.Leu3482=) c.10161G>A (p.Leu3387=) c.8469G>A (p.Leu2823=) c.*94G>A (n.*94G>A) | |
| 1 | g.186095394G>C | CA422513717 | HMCN1 | c.10446G>C (p.Leu3482=) c.10161G>C (p.Leu3387=) c.8469G>C (p.Leu2823=) c.*94G>C (n.*94G>C) | |
| 1 | g.186095394G>T | CA422513720 | HMCN1 | c.10446G>T (p.Leu3482=) c.10161G>T (p.Leu3387=) c.8469G>T (p.Leu2823=) c.*94G>T (n.*94G>T) | |
| 1 | g.186095395A= | CA1212995203 | HMCN1 | c.10447A= (p.Thr3483=) c.10162A= (p.Thr3388=) c.8470A= (p.Thr2824=) c.*95A= (n.*95A=) | |
| 1 | g.186095395A>C | CA343930732 | HMCN1 | c.10447A>C (p.Thr3483Pro) c.10162A>C (p.Thr3388Pro) c.8470A>C (p.Thr2824Pro) c.*95A>C (n.*95A>C) | dbSNP |
| 1 | g.186095395A>G | CA343930736 | HMCN1 | c.10447A>G (p.Thr3483Ala) c.10162A>G (p.Thr3388Ala) c.8470A>G (p.Thr2824Ala) c.*95A>G (n.*95A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186095395A>T | CA343930745 | HMCN1 | c.10447A>T (p.Thr3483Ser) c.10162A>T (p.Thr3388Ser) c.8470A>T (p.Thr2824Ser) c.*95A>T (n.*95A>T) | |
| 1 | g.186095396C>A | CA343930748 | HMCN1 | c.10448C>A (p.Thr3483Lys) c.10163C>A (p.Thr3388Lys) c.8471C>A (p.Thr2824Lys) c.*96C>A (n.*96C>A) | |
| 1 | g.186095396C= | CA1212995204 | HMCN1 | c.10448C= (p.Thr3483=) c.10163C= (p.Thr3388=) c.8471C= (p.Thr2824=) c.*96C= (n.*96C=) | |
| 1 | g.186095396C>G | CA343930753 | HMCN1 | c.10448C>G (p.Thr3483Arg) c.10163C>G (p.Thr3388Arg) c.8471C>G (p.Thr2824Arg) c.*96C>G (n.*96C>G) | gnomAD v4 |
| 1 | g.186095396C>T | CA343930756 | HMCN1 | c.10448C>T (p.Thr3483Ile) c.10163C>T (p.Thr3388Ile) c.8471C>T (p.Thr2824Ile) c.*96C>T (n.*96C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186095396_186095398del | CA2649556964 | HMCN1 | c.10448_10450del (p.Thr3483_Val3484delinsIle) c.10163_10165del (p.Thr3388_Val3389delinsIle) c.8471_8473del (p.Thr2824_Val2825delinsIle) c.*96_*98del (n.*96_*98del) | gnomAD v4 |
| 1 | g.186095397A= | CA1212995205 | HMCN1 | c.10449A= (p.Thr3483=) c.10164A= (p.Thr3388=) c.8472A= (p.Thr2824=) c.*97A= (n.*97A=) | |
| 1 | g.186095397A>C | CA422513724 | HMCN1 | c.10449A>C (p.Thr3483=) c.10164A>C (p.Thr3388=) c.8472A>C (p.Thr2824=) c.*97A>C (n.*97A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.186095397A>G | CA422513725 | HMCN1 | c.10449A>G (p.Thr3483=) c.10164A>G (p.Thr3388=) c.8472A>G (p.Thr2824=) c.*97A>G (n.*97A>G) | |
| 1 | g.186095397A>T | CA422513726 | HMCN1 | c.10449A>T (p.Thr3483=) c.10164A>T (p.Thr3388=) c.8472A>T (p.Thr2824=) c.*97A>T (n.*97A>T) |