| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.207580276A= | CA1139926082 | CR1 | c.4973A= (p.His1658=) c.3623A= (p.His1208=) c.1179+14353A= c.*738A= (n.*738A=) c.4988A= (p.His1663=) c.3638A= (p.His1213=) | |
| 1 | g.207580276A>C | CA344534755 | CR1 | c.4973A>C (p.His1658Pro) c.3623A>C (p.His1208Pro) c.1179+14353A>C c.*738A>C (n.*738A>C) c.4988A>C (p.His1663Pro) c.3638A>C (p.His1213Pro) | |
| 1 | g.207580276A>G | CA1370009 | CR1 | c.4973A>G (p.His1658Arg) c.3623A>G (p.His1208Arg) c.1179+14353A>G c.*738A>G (n.*738A>G) c.4988A>G (p.His1663Arg) c.3638A>G (p.His1213Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207580276A>T | CA344534760 | CR1 | c.4973A>T (p.His1658Leu) c.3623A>T (p.His1208Leu) c.1179+14353A>T c.*738A>T (n.*738A>T) c.4988A>T (p.His1663Leu) c.3638A>T (p.His1213Leu) | |
| 1 | g.207580277T>A | CA344534763 | CR1 | c.4974T>A (p.His1658Gln) c.3624T>A (p.His1208Gln) c.1179+14354T>A c.*739T>A (n.*739T>A) c.4989T>A (p.His1663Gln) c.3639T>A (p.His1213Gln) | |
| 1 | g.207580277T>C | CA423140219 | CR1 | c.4974T>C (p.His1658=) c.3624T>C (p.His1208=) c.1179+14354T>C c.*739T>C (n.*739T>C) c.4989T>C (p.His1663=) c.3639T>C (p.His1213=) | gnomAD v4 |
| 1 | g.207580277T>G | CA344534767 | CR1 | c.4974T>G (p.His1658Gln) c.3624T>G (p.His1208Gln) c.1179+14354T>G c.*739T>G (n.*739T>G) c.4989T>G (p.His1663Gln) c.3639T>G (p.His1213Gln) | |
| 1 | g.207580278A>C | CA344534776 | CR1 | c.4975A>C (p.Thr1659Pro) c.3625A>C (p.Thr1209Pro) c.1179+14355A>C c.*740A>C (n.*740A>C) c.4990A>C (p.Thr1664Pro) c.3640A>C (p.Thr1214Pro) | |
| 1 | g.207580278A>G | CA344534771 | CR1 | c.4975A>G (p.Thr1659Ala) c.3625A>G (p.Thr1209Ala) c.1179+14355A>G c.*740A>G (n.*740A>G) c.4990A>G (p.Thr1664Ala) c.3640A>G (p.Thr1214Ala) | |
| 1 | g.207580278A>T | CA344534773 | CR1 | c.4975A>T (p.Thr1659Ser) c.3625A>T (p.Thr1209Ser) c.1179+14355A>T c.*740A>T (n.*740A>T) c.4990A>T (p.Thr1664Ser) c.3640A>T (p.Thr1214Ser) | |
| 1 | g.207580279C>A | CA344534779 | CR1 | c.4976C>A (p.Thr1659Asn) c.3626C>A (p.Thr1209Asn) c.1179+14356C>A c.*741C>A (n.*741C>A) c.4991C>A (p.Thr1664Asn) c.3641C>A (p.Thr1214Asn) | |
| 1 | g.207580279C>G | CA344534785 | CR1 | c.4976C>G (p.Thr1659Ser) c.3626C>G (p.Thr1209Ser) c.1179+14356C>G c.*741C>G (n.*741C>G) c.4991C>G (p.Thr1664Ser) c.3641C>G (p.Thr1214Ser) | |
| 1 | g.207580279C>T | CA344534789 | CR1 | c.4976C>T (p.Thr1659Ile) c.3626C>T (p.Thr1209Ile) c.1179+14356C>T c.*741C>T (n.*741C>T) c.4991C>T (p.Thr1664Ile) c.3641C>T (p.Thr1214Ile) | |
| 1 | g.207580280C>A | CA423140223 | CR1 | c.4977C>A (p.Thr1659=) c.3627C>A (p.Thr1209=) c.1179+14357C>A c.*742C>A (n.*742C>A) c.4992C>A (p.Thr1664=) c.3642C>A (p.Thr1214=) | |
| 1 | g.207580280C= | CA2483443654 | CR1 | c.4977C= (p.Thr1659=) c.3627C= (p.Thr1209=) c.1179+14357C= c.*742C= (n.*742C=) c.4992C= (p.Thr1664=) c.3642C= (p.Thr1214=) | |
| 1 | g.207580280C>G | CA423140224 | CR1 | c.4977C>G (p.Thr1659=) c.3627C>G (p.Thr1209=) c.1179+14357C>G c.*742C>G (n.*742C>G) c.4992C>G (p.Thr1664=) c.3642C>G (p.Thr1214=) | |
| 1 | g.207580280C>T | CA423140225 | CR1 | c.4977C>T (p.Thr1659=) c.3627C>T (p.Thr1209=) c.1179+14357C>T c.*742C>T (n.*742C>T) c.4992C>T (p.Thr1664=) c.3642C>T (p.Thr1214=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207580281C>A | CA344534794 | CR1 | c.4978C>A (p.Pro1660Thr) c.3628C>A (p.Pro1210Thr) c.1179+14358C>A c.*743C>A (n.*743C>A) c.4993C>A (p.Pro1665Thr) c.3643C>A (p.Pro1215Thr) | |
| 1 | g.207580281C>G | CA344534797 | CR1 | c.4978C>G (p.Pro1660Ala) c.3628C>G (p.Pro1210Ala) c.1179+14358C>G c.*743C>G (n.*743C>G) c.4993C>G (p.Pro1665Ala) c.3643C>G (p.Pro1215Ala) | |
| 1 | g.207580281C>T | CA344534800 | CR1 | c.4978C>T (p.Pro1660Ser) c.3628C>T (p.Pro1210Ser) c.1179+14358C>T c.*743C>T (n.*743C>T) c.4993C>T (p.Pro1665Ser) c.3643C>T (p.Pro1215Ser) | |
| 1 | g.207580282C>A | CA344534827 | CR1 | c.4979C>A (p.Pro1660Gln) c.3629C>A (p.Pro1210Gln) c.1179+14359C>A c.*744C>A (n.*744C>A) c.4994C>A (p.Pro1665Gln) c.3644C>A (p.Pro1215Gln) | |
| 1 | g.207580282C= | CA2483443655 | CR1 | c.4979C= (p.Pro1660=) c.3629C= (p.Pro1210=) c.1179+14359C= c.*744C= (n.*744C=) c.4994C= (p.Pro1665=) c.3644C= (p.Pro1215=) | |
| 1 | g.207580282C>G | CA344534832 | CR1 | c.4979C>G (p.Pro1660Arg) c.3629C>G (p.Pro1210Arg) c.1179+14359C>G c.*744C>G (n.*744C>G) c.4994C>G (p.Pro1665Arg) c.3644C>G (p.Pro1215Arg) | |
| 1 | g.207580282C>T | CA1370010 | CR1 | c.4979C>T (p.Pro1660Leu) c.3629C>T (p.Pro1210Leu) c.1179+14359C>T c.*744C>T (n.*744C>T) c.4994C>T (p.Pro1665Leu) c.3644C>T (p.Pro1215Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207580283A= | CA2483443656 | CR1 | c.4980A= (p.Pro1660=) c.3630A= (p.Pro1210=) c.1179+14360A= c.*745A= (n.*745A=) c.4995A= (p.Pro1665=) c.3645A= (p.Pro1215=) | |
| 1 | g.207580283A>C | CA423140226 | CR1 | c.4980A>C (p.Pro1660=) c.3630A>C (p.Pro1210=) c.1179+14360A>C c.*745A>C (n.*745A>C) c.4995A>C (p.Pro1665=) c.3645A>C (p.Pro1215=) | |
| 1 | g.207580283A>G | CA423140227 | CR1 | c.4980A>G (p.Pro1660=) c.3630A>G (p.Pro1210=) c.1179+14360A>G c.*745A>G (n.*745A>G) c.4995A>G (p.Pro1665=) c.3645A>G (p.Pro1215=) | |
| 1 | g.207580283A>T | CA423140228 | CR1 | c.4980A>T (p.Pro1660=) c.3630A>T (p.Pro1210=) c.1179+14360A>T c.*745A>T (n.*745A>T) c.4995A>T (p.Pro1665=) c.3645A>T (p.Pro1215=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207580284A>C | CA344534845 | CR1 | c.4981A>C (p.Ser1661Arg) c.3631A>C (p.Ser1211Arg) c.1179+14361A>C c.*746A>C (n.*746A>C) c.4996A>C (p.Ser1666Arg) c.3646A>C (p.Ser1216Arg) | |
| 1 | g.207580284A>G | CA344534837 | CR1 | c.4981A>G (p.Ser1661Gly) c.3631A>G (p.Ser1211Gly) c.1179+14361A>G c.*746A>G (n.*746A>G) c.4996A>G (p.Ser1666Gly) c.3646A>G (p.Ser1216Gly) | |
| 1 | g.207580284A>T | CA344534839 | CR1 | c.4981A>T (p.Ser1661Cys) c.3631A>T (p.Ser1211Cys) c.1179+14361A>T c.*746A>T (n.*746A>T) c.4996A>T (p.Ser1666Cys) c.3646A>T (p.Ser1216Cys) | gnomAD v4 |
| 1 | g.207580285G>A | CA344534848 | CR1 | c.4982G>A (p.Ser1661Asn) c.3632G>A (p.Ser1211Asn) c.1179+14362G>A c.*747G>A (n.*747G>A) c.4997G>A (p.Ser1666Asn) c.3647G>A (p.Ser1216Asn) | |
| 1 | g.207580285G>C | CA344534851 | CR1 | c.4982G>C (p.Ser1661Thr) c.3632G>C (p.Ser1211Thr) c.1179+14362G>C c.*747G>C (n.*747G>C) c.4997G>C (p.Ser1666Thr) c.3647G>C (p.Ser1216Thr) | |
| 1 | g.207580285G>T | CA344534855 | CR1 | c.4982G>T (p.Ser1661Ile) c.3632G>T (p.Ser1211Ile) c.1179+14362G>T c.*747G>T (n.*747G>T) c.4997G>T (p.Ser1666Ile) c.3647G>T (p.Ser1216Ile) | |
| 1 | g.207580286C>A | CA344534858 | CR1 | c.4983C>A (p.Ser1661Arg) c.3633C>A (p.Ser1211Arg) c.1179+14363C>A c.*748C>A (n.*748C>A) c.4998C>A (p.Ser1666Arg) c.3648C>A (p.Ser1216Arg) | dbSNP |
| 1 | g.207580286C>G | CA344534861 | CR1 | c.4983C>G (p.Ser1661Arg) c.3633C>G (p.Ser1211Arg) c.1179+14363C>G c.*748C>G (n.*748C>G) c.4998C>G (p.Ser1666Arg) c.3648C>G (p.Ser1216Arg) | |
| 1 | g.207580286C>T | CA423140232 | CR1 | c.4983C>T (p.Ser1661=) c.3633C>T (p.Ser1211=) c.1179+14363C>T c.*748C>T (n.*748C>T) c.4998C>T (p.Ser1666=) c.3648C>T (p.Ser1216=) | |
| 1 | g.207580287C>A | CA344534864 | CR1 | c.4984C>A (p.His1662Asn) c.3634C>A (p.His1212Asn) c.1179+14364C>A c.*749C>A (n.*749C>A) c.4999C>A (p.His1667Asn) c.3649C>A (p.His1217Asn) | dbSNP |
| 1 | g.207580287C= | CA2483443657 | CR1 | c.4984C= (p.His1662=) c.3634C= (p.His1212=) c.1179+14364C= c.*749C= (n.*749C=) c.4999C= (p.His1667=) c.3649C= (p.His1217=) | |
| 1 | g.207580287C>G | CA344534867 | CR1 | c.4984C>G (p.His1662Asp) c.3634C>G (p.His1212Asp) c.1179+14364C>G c.*749C>G (n.*749C>G) c.4999C>G (p.His1667Asp) c.3649C>G (p.His1217Asp) | |
| 1 | g.207580287C>T | CA344534870 | CR1 | c.4984C>T (p.His1662Tyr) c.3634C>T (p.His1212Tyr) c.1179+14364C>T c.*749C>T (n.*749C>T) c.4999C>T (p.His1667Tyr) c.3649C>T (p.His1217Tyr) | |
| 1 | g.207580288A>C | CA344534880 | CR1 | c.4985A>C (p.His1662Pro) c.3635A>C (p.His1212Pro) c.1179+14365A>C c.*750A>C (n.*750A>C) c.5000A>C (p.His1667Pro) c.3650A>C (p.His1217Pro) | gnomAD v4 |
| 1 | g.207580288A>G | CA344534885 | CR1 | c.4985A>G (p.His1662Arg) c.3635A>G (p.His1212Arg) c.1179+14365A>G c.*750A>G (n.*750A>G) c.5000A>G (p.His1667Arg) c.3650A>G (p.His1217Arg) | |
| 1 | g.207580288A>T | CA344534888 | CR1 | c.4985A>T (p.His1662Leu) c.3635A>T (p.His1212Leu) c.1179+14365A>T c.*750A>T (n.*750A>T) c.5000A>T (p.His1667Leu) c.3650A>T (p.His1217Leu) | |
| 1 | g.207580289T>A | CA344534894 | CR1 | c.4986T>A (p.His1662Gln) c.3636T>A (p.His1212Gln) c.1179+14366T>A c.*751T>A (n.*751T>A) c.5001T>A (p.His1667Gln) c.3651T>A (p.His1217Gln) | |
| 1 | g.207580289T>C | CA423140234 | CR1 | c.4986T>C (p.His1662=) c.3636T>C (p.His1212=) c.1179+14366T>C c.*751T>C (n.*751T>C) c.5001T>C (p.His1667=) c.3651T>C (p.His1217=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207580289T>G | CA344534891 | CR1 | c.4986T>G (p.His1662Gln) c.3636T>G (p.His1212Gln) c.1179+14366T>G c.*751T>G (n.*751T>G) c.5001T>G (p.His1667Gln) c.3651T>G (p.His1217Gln) | |
| 1 | g.207580289T= | CA2483443658 | CR1 | c.4986T= (p.His1662=) c.3636T= (p.His1212=) c.1179+14366T= c.*751T= (n.*751T=) c.5001T= (p.His1667=) c.3651T= (p.His1217=) | |
| 1 | g.207580290C>A | CA344534898 | CR1 | c.4987C>A (p.Gln1663Lys) c.3637C>A (p.Gln1213Lys) c.1179+14367C>A c.*752C>A (n.*752C>A) c.5002C>A (p.Gln1668Lys) c.3652C>A (p.Gln1218Lys) | |
| 1 | g.207580290C>G | CA344534903 | CR1 | c.4987C>G (p.Gln1663Glu) c.3637C>G (p.Gln1213Glu) c.1179+14367C>G c.*752C>G (n.*752C>G) c.5002C>G (p.Gln1668Glu) c.3652C>G (p.Gln1218Glu) |