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.235774910T>C | CA2651137405 | LYST | c.309+3A>G (n.309+3A>G) c.*1058+3A>G (n.*1058+3A>G) c.230+3A>G c.66+3A>G (n.66+3A>G) c.5634+3A>G (n.5634+3A>G) n.6185+3A>G c.3297+3A>G (n.3297+3A>G) n.5816+3A>G | gnomAD v4 |
| 1 | g.235774910_235774911delinsTA | CA2486638246 | LYST | c.309+2_309+3delinsTA (n.309+2_309+3delinsTA) c.*1058+2_*1058+3delinsTA (n.*1058+2_*1058+3delinsTA) c.230+2_230+3delinsTA c.66+2_66+3delinsTA (n.66+2_66+3delinsTA) c.5634+2_5634+3delinsTA (n.5634+2_5634+3delinsTA) n.6185+2_6185+3delinsTA c.3297+2_3297+3delinsTA (n.3297+2_3297+3delinsTA) n.5816+2_5816+3delinsTA | |
| 1 | g.235774911del | CA1466581 | LYST | c.309+2del (n.309+2del) c.*1058+2del (n.*1058+2del) c.230+2del c.66+2del (n.66+2del) c.5634+2del (n.5634+2del) n.6185+2del c.3297+2del (n.3297+2del) n.5816+2del | dbSNP ExAC gnomAD v2 |
| 1 | g.235774911A= | CA1148274434 | LYST | c.309+2T= (n.309+2T=) c.*1058+2T= (n.*1058+2T=) c.230+2T= c.66+2T= (n.66+2T=) c.5634+2T= (n.5634+2T=) n.6185+2T= c.3297+2T= (n.3297+2T=) n.5816+2T= | |
| 1 | g.235774911A>C | CA344950843 | LYST | c.309+2T>G (n.309+2T>G) c.*1058+2T>G (n.*1058+2T>G) c.230+2T>G c.66+2T>G (n.66+2T>G) c.5634+2T>G (n.5634+2T>G) n.6185+2T>G c.3297+2T>G (n.3297+2T>G) n.5816+2T>G | |
| 1 | g.235774911A>G | CA344950844 | LYST | c.309+2T>C (n.309+2T>C) c.*1058+2T>C (n.*1058+2T>C) c.230+2T>C c.66+2T>C (n.66+2T>C) c.5634+2T>C (n.5634+2T>C) n.6185+2T>C c.3297+2T>C (n.3297+2T>C) n.5816+2T>C | dbSNP gnomAD v4 |
| 1 | g.235774911A>T | CA344950845 | LYST | c.309+2T>A (n.309+2T>A) c.*1058+2T>A (n.*1058+2T>A) c.230+2T>A c.66+2T>A (n.66+2T>A) c.5634+2T>A (n.5634+2T>A) n.6185+2T>A c.3297+2T>A (n.3297+2T>A) n.5816+2T>A | gnomAD v4 |
| 1 | g.235774912C>A | CA344950846 | LYST | c.309+1G>T (n.309+1G>T) c.*1058+1G>T (n.*1058+1G>T) c.230+1G>T c.66+1G>T (n.66+1G>T) c.5634+1G>T (n.5634+1G>T) n.6185+1G>T c.3297+1G>T (n.3297+1G>T) n.5816+1G>T | |
| 1 | g.235774912C= | CA2486638247 | LYST | c.309+1G= (n.309+1G=) c.*1058+1G= (n.*1058+1G=) c.230+1G= c.66+1G= (n.66+1G=) c.5634+1G= (n.5634+1G=) n.6185+1G= c.3297+1G= (n.3297+1G=) n.5816+1G= | |
| 1 | g.235774912C>G | CA344950848 | LYST | c.309+1G>C (n.309+1G>C) c.*1058+1G>C (n.*1058+1G>C) c.230+1G>C c.66+1G>C (n.66+1G>C) c.5634+1G>C (n.5634+1G>C) n.6185+1G>C c.3297+1G>C (n.3297+1G>C) n.5816+1G>C | |
| 1 | g.235774912C>T | CA1466582 | LYST | c.309+1G>A (n.309+1G>A) c.*1058+1G>A (n.*1058+1G>A) c.230+1G>A c.66+1G>A (n.66+1G>A) c.5634+1G>A (n.5634+1G>A) n.6185+1G>A c.3297+1G>A (n.3297+1G>A) n.5816+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774913del | CA344950847 | LYST | c.309+1del c.*1058+1del c.230+1del c.66+1del c.5634+1del n.6185+1del c.3297+1del n.5816+1del | |
| 1 | g.235774913C>A | CA344950850 | LYST | c.309G>T (p.Lys103Asn) c.*1058G>T (n.*1058G>T) c.230G>T c.66G>T (p.Lys22Asn) c.5634G>T (p.Lys1878Asn) n.6185G>T c.3297G>T (p.Lys1099Asn) n.5816G>T | |
| 1 | g.235774913C= | CA2486638248 | LYST | c.309G= (p.Lys103=) c.*1058G= (n.*1058G=) c.230G= c.66G= (p.Lys22=) c.5634G= (p.Lys1878=) n.6185G= c.3297G= (p.Lys1099=) n.5816G= | |
| 1 | g.235774913C>G | CA344950849 | LYST | c.309G>C (p.Lys103Asn) c.*1058G>C (n.*1058G>C) c.230G>C c.66G>C (p.Lys22Asn) c.5634G>C (p.Lys1878Asn) n.6185G>C c.3297G>C (p.Lys1099Asn) n.5816G>C | |
| 1 | g.235774913C>T | CA423776657 | LYST | c.309G>A (p.Lys103=) c.*1058G>A (n.*1058G>A) c.230G>A c.66G>A (p.Lys22=) c.5634G>A (p.Lys1878=) n.6185G>A c.3297G>A (p.Lys1099=) n.5816G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774914T>A | CA344950853 | LYST | c.308A>T (p.Lys103Met) c.*1057A>T (n.*1057A>T) c.229A>T c.65A>T (p.Lys22Met) c.5633A>T (p.Lys1878Met) n.6184A>T c.3296A>T (p.Lys1099Met) n.5815A>T | |
| 1 | g.235774914T>C | CA344950851 | LYST | c.308A>G (p.Lys103Arg) c.*1057A>G (n.*1057A>G) c.229A>G c.65A>G (p.Lys22Arg) c.5633A>G (p.Lys1878Arg) n.6184A>G c.3296A>G (p.Lys1099Arg) n.5815A>G | |
| 1 | g.235774914T>G | CA344950852 | LYST | c.308A>C (p.Lys103Thr) c.*1057A>C (n.*1057A>C) c.229A>C c.65A>C (p.Lys22Thr) c.5633A>C (p.Lys1878Thr) n.6184A>C c.3296A>C (p.Lys1099Thr) n.5815A>C | |
| 1 | g.235774915del | CA2651137406 | LYST | c.308del (p.Lys103ArgfsTer15) c.*1057del (n.*1057del) c.229del c.65del (p.Lys22ArgfsTer15) c.5633del (p.Lys1878ArgfsTer15) n.6184del c.3296del (p.Lys1099ArgfsTer15) n.5815del | gnomAD v4 |
| 1 | g.235774915T>A | CA344950854 | LYST | c.307A>T (p.Lys103Ter) c.*1056A>T (n.*1056A>T) c.228A>T c.64A>T (p.Lys22Ter) c.5632A>T (p.Lys1878Ter) n.6183A>T c.3295A>T (p.Lys1099Ter) n.5814A>T | |
| 1 | g.235774915T>C | CA344950855 | LYST | c.307A>G (p.Lys103Glu) c.*1056A>G (n.*1056A>G) c.228A>G c.64A>G (p.Lys22Glu) c.5632A>G (p.Lys1878Glu) n.6183A>G c.3295A>G (p.Lys1099Glu) n.5814A>G | |
| 1 | g.235774915T>G | CA344950856 | LYST | c.307A>C (p.Lys103Gln) c.*1056A>C (n.*1056A>C) c.228A>C c.64A>C (p.Lys22Gln) c.5632A>C (p.Lys1878Gln) n.6183A>C c.3295A>C (p.Lys1099Gln) n.5814A>C | |
| 1 | g.235774916C>A | CA344950858 | LYST | c.306G>T (p.Leu102Phe) c.*1055G>T (n.*1055G>T) c.227G>T c.63G>T (p.Leu21Phe) c.5631G>T (p.Leu1877Phe) n.6182G>T c.3294G>T (p.Leu1098Phe) n.5813G>T | |
| 1 | g.235774916C>G | CA344950859 | LYST | c.306G>C (p.Leu102Phe) c.*1055G>C (n.*1055G>C) c.227G>C c.63G>C (p.Leu21Phe) c.5631G>C (p.Leu1877Phe) n.6182G>C c.3294G>C (p.Leu1098Phe) n.5813G>C | |
| 1 | g.235774916C>T | CA423776658 | LYST | c.306G>A (p.Leu102=) c.*1055G>A (n.*1055G>A) c.227G>A c.63G>A (p.Leu21=) c.5631G>A (p.Leu1877=) n.6182G>A c.3294G>A (p.Leu1098=) n.5813G>A | |
| 1 | g.235774917A>C | CA344950861 | LYST | c.305T>G (p.Leu102Trp) c.*1054T>G (n.*1054T>G) c.226T>G c.62T>G (p.Leu21Trp) c.5630T>G (p.Leu1877Trp) n.6181T>G c.3293T>G (p.Leu1098Trp) n.5812T>G | |
| 1 | g.235774917A>G | CA344950862 | LYST | c.305T>C (p.Leu102Ser) c.*1054T>C (n.*1054T>C) c.226T>C c.62T>C (p.Leu21Ser) c.5630T>C (p.Leu1877Ser) n.6181T>C c.3293T>C (p.Leu1098Ser) n.5812T>C | |
| 1 | g.235774917A>T | CA344950863 | LYST | c.305T>A (p.Leu102Ter) c.*1054T>A (n.*1054T>A) c.226T>A c.62T>A (p.Leu21Ter) c.5630T>A (p.Leu1877Ter) n.6181T>A c.3293T>A (p.Leu1098Ter) n.5812T>A | |
| 1 | g.235774918A= | CA2486638249 | LYST | c.304T= (p.Leu102=) c.*1053T= (n.*1053T=) c.225T= c.61T= (p.Leu21=) c.5629T= (p.Leu1877=) n.6180T= c.3292T= (p.Leu1098=) n.5811T= | |
| 1 | g.235774918A>C | CA344950865 | LYST | c.304T>G (p.Leu102Val) c.*1053T>G (n.*1053T>G) c.225T>G c.61T>G (p.Leu21Val) c.5629T>G (p.Leu1877Val) n.6180T>G c.3292T>G (p.Leu1098Val) n.5811T>G | |
| 1 | g.235774918A>G | CA423776659 | LYST | c.304T>C (p.Leu102=) c.*1053T>C (n.*1053T>C) c.225T>C c.61T>C (p.Leu21=) c.5629T>C (p.Leu1877=) n.6180T>C c.3292T>C (p.Leu1098=) n.5811T>C | |
| 1 | g.235774918A>T | CA344950866 | LYST | c.304T>A (p.Leu102Met) c.*1053T>A (n.*1053T>A) c.225T>A c.61T>A (p.Leu21Met) c.5629T>A (p.Leu1877Met) n.6180T>A c.3292T>A (p.Leu1098Met) n.5811T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774919A>C | CA344950868 | LYST | c.303T>G (p.Ile101Met) c.*1052T>G (n.*1052T>G) c.224T>G c.60T>G (p.Ile20Met) c.5628T>G (p.Ile1876Met) n.6179T>G c.3291T>G (p.Ile1097Met) n.5810T>G | |
| 1 | g.235774919A>G | CA423776660 | LYST | c.303T>C (p.Ile101=) c.*1052T>C (n.*1052T>C) c.224T>C c.60T>C (p.Ile20=) c.5628T>C (p.Ile1876=) n.6179T>C c.3291T>C (p.Ile1097=) n.5810T>C | |
| 1 | g.235774919A>T | CA423776661 | LYST | c.303T>A (p.Ile101=) c.*1052T>A (n.*1052T>A) c.224T>A c.60T>A (p.Ile20=) c.5628T>A (p.Ile1876=) n.6179T>A c.3291T>A (p.Ile1097=) n.5810T>A | |
| 1 | g.235774920A>C | CA344950869 | LYST | c.302T>G (p.Ile101Ser) c.*1051T>G (n.*1051T>G) c.223T>G c.59T>G (p.Ile20Ser) c.5627T>G (p.Ile1876Ser) n.6178T>G c.3290T>G (p.Ile1097Ser) n.5809T>G | |
| 1 | g.235774920A>G | CA344950873 | LYST | c.302T>C (p.Ile101Thr) c.*1051T>C (n.*1051T>C) c.223T>C c.59T>C (p.Ile20Thr) c.5627T>C (p.Ile1876Thr) n.6178T>C c.3290T>C (p.Ile1097Thr) n.5809T>C | |
| 1 | g.235774920A>T | CA344950871 | LYST | c.302T>A (p.Ile101Asn) c.*1051T>A (n.*1051T>A) c.223T>A c.59T>A (p.Ile20Asn) c.5627T>A (p.Ile1876Asn) n.6178T>A c.3290T>A (p.Ile1097Asn) n.5809T>A | |
| 1 | g.235774921T>A | CA344950874 | LYST | c.301A>T (p.Ile101Phe) c.*1050A>T (n.*1050A>T) c.222A>T c.58A>T (p.Ile20Phe) c.5626A>T (p.Ile1876Phe) n.6177A>T c.3289A>T (p.Ile1097Phe) n.5808A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235774921T>C | CA344950875 | LYST | c.301A>G (p.Ile101Val) c.*1050A>G (n.*1050A>G) c.222A>G c.58A>G (p.Ile20Val) c.5626A>G (p.Ile1876Val) n.6177A>G c.3289A>G (p.Ile1097Val) n.5808A>G | dbSNP |
| 1 | g.235774921T>G | CA344950877 | LYST | c.301A>C (p.Ile101Leu) c.*1050A>C (n.*1050A>C) c.222A>C c.58A>C (p.Ile20Leu) c.5626A>C (p.Ile1876Leu) n.6177A>C c.3289A>C (p.Ile1097Leu) n.5808A>C | |
| 1 | g.235774921T= | CA2486638250 | LYST | c.301A= (p.Ile101=) c.*1050A= (n.*1050A=) c.222A= c.58A= (p.Ile20=) c.5626A= (p.Ile1876=) n.6177A= c.3289A= (p.Ile1097=) n.5808A= | |
| 1 | g.235774922G>A | CA39621501 | LYST | c.300C>T (p.Tyr100=) c.*1049C>T (n.*1049C>T) c.221C>T c.57C>T (p.Tyr19=) c.5625C>T (p.Tyr1875=) n.6176C>T c.3288C>T (p.Tyr1096=) n.5807C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774922G>C | CA344950885 | LYST | c.300C>G (p.Tyr100Ter) c.*1049C>G (n.*1049C>G) c.221C>G c.57C>G (p.Tyr19Ter) c.5625C>G (p.Tyr1875Ter) n.6176C>G c.3288C>G (p.Tyr1096Ter) n.5807C>G | |
| 1 | g.235774922G= | CA1145330037 | LYST | c.300C= (p.Tyr100=) c.*1049C= (n.*1049C=) c.221C= c.57C= (p.Tyr19=) c.5625C= (p.Tyr1875=) n.6176C= c.3288C= (p.Tyr1096=) n.5807C= | |
| 1 | g.235774922G>T | CA344950887 | LYST | c.300C>A (p.Tyr100Ter) c.*1049C>A (n.*1049C>A) c.221C>A c.57C>A (p.Tyr19Ter) c.5625C>A (p.Tyr1875Ter) n.6176C>A c.3288C>A (p.Tyr1096Ter) n.5807C>A | gnomAD v4 |
| 1 | g.235774923T>A | CA344950888 | LYST | c.299A>T (p.Tyr100Phe) c.*1048A>T (n.*1048A>T) c.220A>T c.56A>T (p.Tyr19Phe) c.5624A>T (p.Tyr1875Phe) n.6175A>T c.3287A>T (p.Tyr1096Phe) n.5806A>T | |
| 1 | g.235774923T>C | CA39621504 | LYST | c.299A>G (p.Tyr100Cys) c.*1048A>G (n.*1048A>G) c.220A>G c.56A>G (p.Tyr19Cys) c.5624A>G (p.Tyr1875Cys) n.6175A>G c.3287A>G (p.Tyr1096Cys) n.5806A>G | dbSNP gnomAD v4 |
| 1 | g.235774923T>G | CA344950890 | LYST | c.299A>C (p.Tyr100Ser) c.*1048A>C (n.*1048A>C) c.220A>C c.56A>C (p.Tyr19Ser) c.5624A>C (p.Tyr1875Ser) n.6175A>C c.3287A>C (p.Tyr1096Ser) n.5806A>C | |
| 1 | g.235774923T= | CA2486638251 | LYST | c.299A= (p.Tyr100=) c.*1048A= (n.*1048A=) c.220A= c.56A= (p.Tyr19=) c.5624A= (p.Tyr1875=) n.6175A= c.3287A= (p.Tyr1096=) n.5806A= | |
| 1 | g.235774924A>C | CA344950895 | LYST | c.298T>G (p.Tyr100Asp) c.*1047T>G (n.*1047T>G) c.219T>G c.55T>G (p.Tyr19Asp) c.5623T>G (p.Tyr1875Asp) n.6174T>G c.3286T>G (p.Tyr1096Asp) n.5805T>G | |
| 1 | g.235774924A>G | CA344950894 | LYST | c.298T>C (p.Tyr100His) c.*1047T>C (n.*1047T>C) c.219T>C c.55T>C (p.Tyr19His) c.5623T>C (p.Tyr1875His) n.6174T>C c.3286T>C (p.Tyr1096His) n.5805T>C | |
| 1 | g.235774924A>T | CA344950892 | LYST | c.298T>A (p.Tyr100Asn) c.*1047T>A (n.*1047T>A) c.219T>A c.55T>A (p.Tyr19Asn) c.5623T>A (p.Tyr1875Asn) n.6174T>A c.3286T>A (p.Tyr1096Asn) n.5805T>A | |
| 1 | g.235774925A= | CA2486638252 | LYST | c.297T= (p.Phe99=) c.*1046T= (n.*1046T=) c.218T= c.54T= (p.Phe18=) c.5622T= (p.Phe1874=) n.6173T= c.3285T= (p.Phe1095=) n.5804T= | |
| 1 | g.235774925A>C | CA344950897 | LYST | c.297T>G (p.Phe99Leu) c.*1046T>G (n.*1046T>G) c.218T>G c.54T>G (p.Phe18Leu) c.5622T>G (p.Phe1874Leu) n.6173T>G c.3285T>G (p.Phe1095Leu) n.5804T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774925A>G | CA423776662 | LYST | c.297T>C (p.Phe99=) c.*1046T>C (n.*1046T>C) c.218T>C c.54T>C (p.Phe18=) c.5622T>C (p.Phe1874=) n.6173T>C c.3285T>C (p.Phe1095=) n.5804T>C | |
| 1 | g.235774925A>T | CA344950899 | LYST | c.297T>A (p.Phe99Leu) c.*1046T>A (n.*1046T>A) c.218T>A c.54T>A (p.Phe18Leu) c.5622T>A (p.Phe1874Leu) n.6173T>A c.3285T>A (p.Phe1095Leu) n.5804T>A | |
| 1 | g.235774926A>C | CA344950900 | LYST | c.296T>G (p.Phe99Cys) c.*1045T>G (n.*1045T>G) c.217T>G c.53T>G (p.Phe18Cys) c.5621T>G (p.Phe1874Cys) n.6172T>G c.3284T>G (p.Phe1095Cys) n.5803T>G | |
| 1 | g.235774926A>G | CA344950902 | LYST | c.296T>C (p.Phe99Ser) c.*1045T>C (n.*1045T>C) c.217T>C c.53T>C (p.Phe18Ser) c.5621T>C (p.Phe1874Ser) n.6172T>C c.3284T>C (p.Phe1095Ser) n.5803T>C | |
| 1 | g.235774926A>T | CA344950903 | LYST | c.296T>A (p.Phe99Tyr) c.*1045T>A (n.*1045T>A) c.217T>A c.53T>A (p.Phe18Tyr) c.5621T>A (p.Phe1874Tyr) n.6172T>A c.3284T>A (p.Phe1095Tyr) n.5803T>A | |
| 1 | g.235774927A= | CA2486638253 | LYST | c.295T= (p.Phe99=) c.*1044T= (n.*1044T=) c.216T= c.52T= (p.Phe18=) c.5620T= (p.Phe1874=) n.6171T= c.3283T= (p.Phe1095=) n.5802T= | |
| 1 | g.235774927A>C | CA344950904 | LYST | c.295T>G (p.Phe99Val) c.*1044T>G (n.*1044T>G) c.216T>G c.52T>G (p.Phe18Val) c.5620T>G (p.Phe1874Val) n.6171T>G c.3283T>G (p.Phe1095Val) n.5802T>G | |
| 1 | g.235774927A>G | CA344950905 | LYST | c.295T>C (p.Phe99Leu) c.*1044T>C (n.*1044T>C) c.216T>C c.52T>C (p.Phe18Leu) c.5620T>C (p.Phe1874Leu) n.6171T>C c.3283T>C (p.Phe1095Leu) n.5802T>C | ClinVar |
| 1 | g.235774927A>T | CA1466583 | LYST | c.295T>A (p.Phe99Ile) c.*1044T>A (n.*1044T>A) c.216T>A c.52T>A (p.Phe18Ile) c.5620T>A (p.Phe1874Ile) n.6171T>A c.3283T>A (p.Phe1095Ile) n.5802T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774928C>A | CA423776663 | LYST | c.294G>T (p.Gly98=) c.*1043G>T (n.*1043G>T) c.215G>T c.51G>T (p.Gly17=) c.5619G>T (p.Gly1873=) n.6170G>T c.3282G>T (p.Gly1094=) n.5801G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774928C= | CA2486638254 | LYST | c.294G= (p.Gly98=) c.*1043G= (n.*1043G=) c.215G= c.51G= (p.Gly17=) c.5619G= (p.Gly1873=) n.6170G= c.3282G= (p.Gly1094=) n.5801G= | |
| 1 | g.235774928C>G | CA1466584 | LYST | c.294G>C (p.Gly98=) c.*1043G>C (n.*1043G>C) c.215G>C c.51G>C (p.Gly17=) c.5619G>C (p.Gly1873=) n.6170G>C c.3282G>C (p.Gly1094=) n.5801G>C | dbSNP ExAC gnomAD v2 |
| 1 | g.235774928C>T | CA1466585 | LYST | c.294G>A (p.Gly98=) c.*1043G>A (n.*1043G>A) c.215G>A c.51G>A (p.Gly17=) c.5619G>A (p.Gly1873=) n.6170G>A c.3282G>A (p.Gly1094=) n.5801G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774929C>A | CA344950907 | LYST | c.293G>T (p.Gly98Val) c.*1042G>T (n.*1042G>T) c.214G>T c.50G>T (p.Gly17Val) c.5618G>T (p.Gly1873Val) n.6169G>T c.3281G>T (p.Gly1094Val) n.5800G>T | |
| 1 | g.235774929C= | CA1143767505 | LYST | c.293G= (p.Gly98=) c.*1042G= (n.*1042G=) c.214G= c.50G= (p.Gly17=) c.5618G= (p.Gly1873=) n.6169G= c.3281G= (p.Gly1094=) n.5800G= | |
| 1 | g.235774929C>G | CA344950909 | LYST | c.293G>C (p.Gly98Ala) c.*1042G>C (n.*1042G>C) c.214G>C c.50G>C (p.Gly17Ala) c.5618G>C (p.Gly1873Ala) n.6169G>C c.3281G>C (p.Gly1094Ala) n.5800G>C | |
| 1 | g.235774929C>T | CA1466586 | LYST | c.293G>A (p.Gly98Glu) c.*1042G>A (n.*1042G>A) c.214G>A c.50G>A (p.Gly17Glu) c.5618G>A (p.Gly1873Glu) n.6169G>A c.3281G>A (p.Gly1094Glu) n.5800G>A | dbSNP ExAC gnomAD v2 |
| 1 | g.235774930C>A | CA344950913 | LYST | c.292G>T (p.Gly98Trp) c.*1041G>T (n.*1041G>T) c.213G>T c.49G>T (p.Gly17Trp) c.5617G>T (p.Gly1873Trp) n.6168G>T c.3280G>T (p.Gly1094Trp) n.5799G>T | |
| 1 | g.235774930C>G | CA344950916 | LYST | c.292G>C (p.Gly98Arg) c.*1041G>C (n.*1041G>C) c.213G>C c.49G>C (p.Gly17Arg) c.5617G>C (p.Gly1873Arg) n.6168G>C c.3280G>C (p.Gly1094Arg) n.5799G>C | |
| 1 | g.235774930C>T | CA344950915 | LYST | c.292G>A (p.Gly98Arg) c.*1041G>A (n.*1041G>A) c.213G>A c.49G>A (p.Gly17Arg) c.5617G>A (p.Gly1873Arg) n.6168G>A c.3280G>A (p.Gly1094Arg) n.5799G>A | |
| 1 | g.235774931A= | CA2486638255 | LYST | c.291T= (p.Val97=) c.*1040T= (n.*1040T=) c.212T= c.48T= (p.Val16=) c.5616T= (p.Val1872=) n.6167T= c.3279T= (p.Val1093=) n.5798T= | |
| 1 | g.235774931A>C | CA423776664 | LYST | c.291T>G (p.Val97=) c.*1040T>G (n.*1040T>G) c.212T>G c.48T>G (p.Val16=) c.5616T>G (p.Val1872=) n.6167T>G c.3279T>G (p.Val1093=) n.5798T>G | |
| 1 | g.235774931A>G | CA1466587 | LYST | c.291T>C (p.Val97=) c.*1040T>C (n.*1040T>C) c.212T>C c.48T>C (p.Val16=) c.5616T>C (p.Val1872=) n.6167T>C c.3279T>C (p.Val1093=) n.5798T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774931A>T | CA423776665 | LYST | c.291T>A (p.Val97=) c.*1040T>A (n.*1040T>A) c.212T>A c.48T>A (p.Val16=) c.5616T>A (p.Val1872=) n.6167T>A c.3279T>A (p.Val1093=) n.5798T>A | dbSNP |
| 1 | g.235774932A= | CA2486638256 | LYST | c.290T= (p.Val97=) c.*1039T= (n.*1039T=) c.211T= c.47T= (p.Val16=) c.5615T= (p.Val1872=) n.6166T= c.3278T= (p.Val1093=) n.5797T= | |
| 1 | g.235774932A>C | CA344950919 | LYST | c.290T>G (p.Val97Gly) c.*1039T>G (n.*1039T>G) c.211T>G c.47T>G (p.Val16Gly) c.5615T>G (p.Val1872Gly) n.6166T>G c.3278T>G (p.Val1093Gly) n.5797T>G | |
| 1 | g.235774932A>G | CA344950921 | LYST | c.290T>C (p.Val97Ala) c.*1039T>C (n.*1039T>C) c.211T>C c.47T>C (p.Val16Ala) c.5615T>C (p.Val1872Ala) n.6166T>C c.3278T>C (p.Val1093Ala) n.5797T>C | dbSNP gnomAD v2 |
| 1 | g.235774932A>T | CA344950923 | LYST | c.290T>A (p.Val97Asp) c.*1039T>A (n.*1039T>A) c.211T>A c.47T>A (p.Val16Asp) c.5615T>A (p.Val1872Asp) n.6166T>A c.3278T>A (p.Val1093Asp) n.5797T>A | |
| 1 | g.235774933del | CA2514793783 | LYST | c.289del (p.Val97LeufsTer6) c.*1038del (n.*1038del) c.210del c.46del (p.Val16LeufsTer6) c.5614del (p.Val1872LeufsTer6) n.6165del c.3277del (p.Val1093LeufsTer6) n.5796del | |
| 1 | g.235774933C>A | CA344950925 | LYST | c.289G>T (p.Val97Phe) c.*1038G>T (n.*1038G>T) c.210G>T c.46G>T (p.Val16Phe) c.5614G>T (p.Val1872Phe) n.6165G>T c.3277G>T (p.Val1093Phe) n.5796G>T | gnomAD v4 |
| 1 | g.235774933C= | CA1148472033 | LYST | c.289G= (p.Val97=) c.*1038G= (n.*1038G=) c.210G= c.46G= (p.Val16=) c.5614G= (p.Val1872=) n.6165G= c.3277G= (p.Val1093=) n.5796G= | |
| 1 | g.235774933C>G | CA344950926 | LYST | c.289G>C (p.Val97Leu) c.*1038G>C (n.*1038G>C) c.210G>C c.46G>C (p.Val16Leu) c.5614G>C (p.Val1872Leu) n.6165G>C c.3277G>C (p.Val1093Leu) n.5796G>C | dbSNP |
| 1 | g.235774933C>T | CA1466588 | LYST | c.289G>A (p.Val97Ile) c.*1038G>A (n.*1038G>A) c.210G>A c.46G>A (p.Val16Ile) c.5614G>A (p.Val1872Ile) n.6165G>A c.3277G>A (p.Val1093Ile) n.5796G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774934A>C | CA344950929 | LYST | c.288T>G (p.Ile96Met) c.*1037T>G (n.*1037T>G) c.209T>G c.45T>G (p.Ile15Met) c.5613T>G (p.Ile1871Met) n.6164T>G c.3276T>G (p.Ile1092Met) n.5795T>G | |
| 1 | g.235774934A>G | CA423776666 | LYST | c.288T>C (p.Ile96=) c.*1037T>C (n.*1037T>C) c.209T>C c.45T>C (p.Ile15=) c.5613T>C (p.Ile1871=) n.6164T>C c.3276T>C (p.Ile1092=) n.5795T>C | |
| 1 | g.235774934A>T | CA423776667 | LYST | c.288T>A (p.Ile96=) c.*1037T>A (n.*1037T>A) c.209T>A c.45T>A (p.Ile15=) c.5613T>A (p.Ile1871=) n.6164T>A c.3276T>A (p.Ile1092=) n.5795T>A | |
| 1 | g.235774935A= | CA1146720323 | LYST | c.287T= (p.Ile96=) c.*1036T= (n.*1036T=) c.208T= c.44T= (p.Ile15=) c.5612T= (p.Ile1871=) n.6163T= c.3275T= (p.Ile1092=) n.5794T= | |
| 1 | g.235774935A>C | CA344950932 | LYST | c.287T>G (p.Ile96Ser) c.*1036T>G (n.*1036T>G) c.208T>G c.44T>G (p.Ile15Ser) c.5612T>G (p.Ile1871Ser) n.6163T>G c.3275T>G (p.Ile1092Ser) n.5794T>G | |
| 1 | g.235774935A>G | CA1466589 | LYST | c.287T>C (p.Ile96Thr) c.*1036T>C (n.*1036T>C) c.208T>C c.44T>C (p.Ile15Thr) c.5612T>C (p.Ile1871Thr) n.6163T>C c.3275T>C (p.Ile1092Thr) n.5794T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774935A>T | CA344950934 | LYST | c.287T>A (p.Ile96Asn) c.*1036T>A (n.*1036T>A) c.208T>A c.44T>A (p.Ile15Asn) c.5612T>A (p.Ile1871Asn) n.6163T>A c.3275T>A (p.Ile1092Asn) n.5794T>A | |
| 1 | g.235774936T>A | CA344950936 | LYST | c.286A>T (p.Ile96Phe) c.*1035A>T (n.*1035A>T) c.207A>T c.43A>T (p.Ile15Phe) c.5611A>T (p.Ile1871Phe) n.6162A>T c.3274A>T (p.Ile1092Phe) n.5793A>T | |
| 1 | g.235774936T>C | CA1466591 | LYST | c.286A>G (p.Ile96Val) c.*1035A>G (n.*1035A>G) c.207A>G c.43A>G (p.Ile15Val) c.5611A>G (p.Ile1871Val) n.6162A>G c.3274A>G (p.Ile1092Val) n.5793A>G | dbSNP ExAC |
| 1 | g.235774936T>G | CA1466590 | LYST | c.286A>C (p.Ile96Leu) c.*1035A>C (n.*1035A>C) c.207A>C c.43A>C (p.Ile15Leu) c.5611A>C (p.Ile1871Leu) n.6162A>C c.3274A>C (p.Ile1092Leu) n.5793A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774936T= | CA1144091716 | LYST | c.286A= (p.Ile96=) c.*1035A= (n.*1035A=) c.207A= c.43A= (p.Ile15=) c.5611A= (p.Ile1871=) n.6162A= c.3274A= (p.Ile1092=) n.5793A= | |
| 1 | g.235774937G>A | CA423776668 | LYST | c.285C>T (p.Cys95=) c.*1034C>T (n.*1034C>T) c.206C>T c.42C>T (p.Cys14=) c.5610C>T (p.Cys1870=) n.6161C>T c.3273C>T (p.Cys1091=) n.5792C>T | |
| 1 | g.235774937G>C | CA344950938 | LYST | c.285C>G (p.Cys95Trp) c.*1034C>G (n.*1034C>G) c.206C>G c.42C>G (p.Cys14Trp) c.5610C>G (p.Cys1870Trp) n.6161C>G c.3273C>G (p.Cys1091Trp) n.5792C>G | |
| 1 | g.235774937G>T | CA344950937 | LYST | c.285C>A (p.Cys95Ter) c.*1034C>A (n.*1034C>A) c.206C>A c.42C>A (p.Cys14Ter) c.5610C>A (p.Cys1870Ter) n.6161C>A c.3273C>A (p.Cys1091Ter) n.5792C>A | |
| 1 | g.235774938C>A | CA344950939 | LYST | c.284G>T (p.Cys95Phe) c.*1033G>T (n.*1033G>T) c.205G>T c.41G>T (p.Cys14Phe) c.5609G>T (p.Cys1870Phe) n.6160G>T c.3272G>T (p.Cys1091Phe) n.5791G>T | gnomAD v4 |
| 1 | g.235774938C= | CA2486638257 | LYST | c.284G= (p.Cys95=) c.*1033G= (n.*1033G=) c.205G= c.41G= (p.Cys14=) c.5609G= (p.Cys1870=) n.6160G= c.3272G= (p.Cys1091=) n.5791G= | |
| 1 | g.235774938C>G | CA344950940 | LYST | c.284G>C (p.Cys95Ser) c.*1033G>C (n.*1033G>C) c.205G>C c.41G>C (p.Cys14Ser) c.5609G>C (p.Cys1870Ser) n.6160G>C c.3272G>C (p.Cys1091Ser) n.5791G>C | |
| 1 | g.235774938C>T | CA344950941 | LYST | c.284G>A (p.Cys95Tyr) c.*1033G>A (n.*1033G>A) c.205G>A c.41G>A (p.Cys14Tyr) c.5609G>A (p.Cys1870Tyr) n.6160G>A c.3272G>A (p.Cys1091Tyr) n.5791G>A | dbSNP |
| 1 | g.235774939A>C | CA344950943 | LYST | c.283T>G (p.Cys95Gly) c.*1032T>G (n.*1032T>G) c.204T>G c.40T>G (p.Cys14Gly) c.5608T>G (p.Cys1870Gly) n.6159T>G c.3271T>G (p.Cys1091Gly) n.5790T>G | gnomAD v4 |
| 1 | g.235774939A>G | CA344950944 | LYST | c.283T>C (p.Cys95Arg) c.*1032T>C (n.*1032T>C) c.204T>C c.40T>C (p.Cys14Arg) c.5608T>C (p.Cys1870Arg) n.6159T>C c.3271T>C (p.Cys1091Arg) n.5790T>C | ClinVar |
| 1 | g.235774939A>T | CA344950946 | LYST | c.283T>A (p.Cys95Ser) c.*1032T>A (n.*1032T>A) c.204T>A c.40T>A (p.Cys14Ser) c.5608T>A (p.Cys1870Ser) n.6159T>A c.3271T>A (p.Cys1091Ser) n.5790T>A | |
| 1 | g.235774940T>A | CA344950948 | LYST | c.282A>T (p.Lys94Asn) c.*1031A>T (n.*1031A>T) c.203A>T c.39A>T (p.Lys13Asn) c.5607A>T (p.Lys1869Asn) n.6158A>T c.3270A>T (p.Lys1090Asn) n.5789A>T | |
| 1 | g.235774940T>C | CA423776669 | LYST | c.282A>G (p.Lys94=) c.*1031A>G (n.*1031A>G) c.203A>G c.39A>G (p.Lys13=) c.5607A>G (p.Lys1869=) n.6158A>G c.3270A>G (p.Lys1090=) n.5789A>G | |
| 1 | g.235774940T>G | CA344950949 | LYST | c.282A>C (p.Lys94Asn) c.*1031A>C (n.*1031A>C) c.203A>C c.39A>C (p.Lys13Asn) c.5607A>C (p.Lys1869Asn) n.6158A>C c.3270A>C (p.Lys1090Asn) n.5789A>C | gnomAD v4 |
| 1 | g.235774944del | CA2651137409 | LYST | c.282del (p.Lys94AsnfsTer9) c.*1031del (n.*1031del) c.203del c.39del (p.Lys13AsnfsTer9) c.5607del (p.Lys1869AsnfsTer9) n.6158del c.3270del (p.Lys1090AsnfsTer9) n.5789del | gnomAD v4 |
| 1 | g.235774941T>A | CA344950952 | LYST | c.281A>T (p.Lys94Ile) c.*1030A>T (n.*1030A>T) c.202A>T c.38A>T (p.Lys13Ile) c.5606A>T (p.Lys1869Ile) n.6157A>T c.3269A>T (p.Lys1090Ile) n.5788A>T | |
| 1 | g.235774941T>C | CA344950954 | LYST | c.281A>G (p.Lys94Arg) c.*1030A>G (n.*1030A>G) c.202A>G c.38A>G (p.Lys13Arg) c.5606A>G (p.Lys1869Arg) n.6157A>G c.3269A>G (p.Lys1090Arg) n.5788A>G | |
| 1 | g.235774941T>G | CA344950957 | LYST | c.281A>C (p.Lys94Thr) c.*1030A>C (n.*1030A>C) c.202A>C c.38A>C (p.Lys13Thr) c.5606A>C (p.Lys1869Thr) n.6157A>C c.3269A>C (p.Lys1090Thr) n.5788A>C | |
| 1 | g.235774942T>A | CA344950960 | LYST | c.280A>T (p.Lys94Ter) c.*1029A>T (n.*1029A>T) c.201A>T c.37A>T (p.Lys13Ter) c.5605A>T (p.Lys1869Ter) n.6156A>T c.3268A>T (p.Lys1090Ter) n.5787A>T | |
| 1 | g.235774942T>C | CA344950961 | LYST | c.280A>G (p.Lys94Glu) c.*1029A>G (n.*1029A>G) c.201A>G c.37A>G (p.Lys13Glu) c.5605A>G (p.Lys1869Glu) n.6156A>G c.3268A>G (p.Lys1090Glu) n.5787A>G | |
| 1 | g.235774942T>G | CA344950958 | LYST | c.280A>C (p.Lys94Gln) c.*1029A>C (n.*1029A>C) c.201A>C c.37A>C (p.Lys13Gln) c.5605A>C (p.Lys1869Gln) n.6156A>C c.3268A>C (p.Lys1090Gln) n.5787A>C | |
| 1 | g.235774943T>A | CA344950963 | LYST | c.279A>T (p.Gln93His) c.*1028A>T (n.*1028A>T) c.200A>T c.36A>T (p.Gln12His) c.5604A>T (p.Gln1868His) n.6155A>T c.3267A>T (p.Gln1089His) n.5786A>T | |
| 1 | g.235774943T>C | CA423776671 | LYST | c.279A>G (p.Gln93=) c.*1028A>G (n.*1028A>G) c.200A>G c.36A>G (p.Gln12=) c.5604A>G (p.Gln1868=) n.6155A>G c.3267A>G (p.Gln1089=) n.5786A>G | |
| 1 | g.235774943T>G | CA344950965 | LYST | c.279A>C (p.Gln93His) c.*1028A>C (n.*1028A>C) c.200A>C c.36A>C (p.Gln12His) c.5604A>C (p.Gln1868His) n.6155A>C c.3267A>C (p.Gln1089His) n.5786A>C | |
| 1 | g.235774944T>A | CA344950968 | LYST | c.278A>T (p.Gln93Leu) c.*1027A>T (n.*1027A>T) c.199A>T c.35A>T (p.Gln12Leu) c.5603A>T (p.Gln1868Leu) n.6154A>T c.3266A>T (p.Gln1089Leu) n.5785A>T | |
| 1 | g.235774944T>C | CA344950969 | LYST | c.278A>G (p.Gln93Arg) c.*1027A>G (n.*1027A>G) c.199A>G c.35A>G (p.Gln12Arg) c.5603A>G (p.Gln1868Arg) n.6154A>G c.3266A>G (p.Gln1089Arg) n.5785A>G | |
| 1 | g.235774944T>G | CA344950970 | LYST | c.278A>C (p.Gln93Pro) c.*1027A>C (n.*1027A>C) c.199A>C c.35A>C (p.Gln12Pro) c.5603A>C (p.Gln1868Pro) n.6154A>C c.3266A>C (p.Gln1089Pro) n.5785A>C | |
| 1 | g.235774945G>A | CA344950976 | LYST | c.277C>T (p.Gln93Ter) c.*1026C>T (n.*1026C>T) c.198C>T c.34C>T (p.Gln12Ter) c.5602C>T (p.Gln1868Ter) n.6153C>T c.3265C>T (p.Gln1089Ter) n.5784C>T | dbSNP |
| 1 | g.235774945G>C | CA344950973 | LYST | c.277C>G (p.Gln93Glu) c.*1026C>G (n.*1026C>G) c.198C>G c.34C>G (p.Gln12Glu) c.5602C>G (p.Gln1868Glu) n.6153C>G c.3265C>G (p.Gln1089Glu) n.5784C>G | |
| 1 | g.235774945G= | CA2486638258 | LYST | c.277C= (p.Gln93=) c.*1026C= (n.*1026C=) c.198C= c.34C= (p.Gln12=) c.5602C= (p.Gln1868=) n.6153C= c.3265C= (p.Gln1089=) n.5784C= | |
| 1 | g.235774945G>T | CA344950975 | LYST | c.277C>A (p.Gln93Lys) c.*1026C>A (n.*1026C>A) c.198C>A c.34C>A (p.Gln12Lys) c.5602C>A (p.Gln1868Lys) n.6153C>A c.3265C>A (p.Gln1089Lys) n.5784C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235774946T>A | CA344950977 | LYST | c.276A>T (p.Lys92Asn) c.*1025A>T (n.*1025A>T) c.197A>T c.33A>T (p.Lys11Asn) c.5601A>T (p.Lys1867Asn) n.6152A>T c.3264A>T (p.Lys1088Asn) n.5783A>T | |
| 1 | g.235774946T>C | CA423776672 | LYST | c.276A>G (p.Lys92=) c.*1025A>G (n.*1025A>G) c.197A>G c.33A>G (p.Lys11=) c.5601A>G (p.Lys1867=) n.6152A>G c.3264A>G (p.Lys1088=) n.5783A>G | dbSNP |
| 1 | g.235774946T>G | CA344950979 | LYST | c.276A>C (p.Lys92Asn) c.*1025A>C (n.*1025A>C) c.197A>C c.33A>C (p.Lys11Asn) c.5601A>C (p.Lys1867Asn) n.6152A>C c.3264A>C (p.Lys1088Asn) n.5783A>C | |
| 1 | g.235774946T= | CA2486638259 | LYST | c.276A= (p.Lys92=) c.*1025A= (n.*1025A=) c.197A= c.33A= (p.Lys11=) c.5601A= (p.Lys1867=) n.6152A= c.3264A= (p.Lys1088=) n.5783A= | |
| 1 | g.235774947T>A | CA344950980 | LYST | c.275A>T (p.Lys92Ile) c.*1024A>T (n.*1024A>T) c.196A>T c.32A>T (p.Lys11Ile) c.5600A>T (p.Lys1867Ile) n.6151A>T c.3263A>T (p.Lys1088Ile) n.5782A>T | |
| 1 | g.235774947T>C | CA344950982 | LYST | c.275A>G (p.Lys92Arg) c.*1024A>G (n.*1024A>G) c.196A>G c.32A>G (p.Lys11Arg) c.5600A>G (p.Lys1867Arg) n.6151A>G c.3263A>G (p.Lys1088Arg) n.5782A>G | gnomAD v4 |
| 1 | g.235774947T>G | CA344950985 | LYST | c.275A>C (p.Lys92Thr) c.*1024A>C (n.*1024A>C) c.196A>C c.32A>C (p.Lys11Thr) c.5600A>C (p.Lys1867Thr) n.6151A>C c.3263A>C (p.Lys1088Thr) n.5782A>C | |
| 1 | g.235774948T>A | CA344950992 | LYST | c.274A>T (p.Lys92Ter) c.*1023A>T (n.*1023A>T) c.195A>T c.31A>T (p.Lys11Ter) c.5599A>T (p.Lys1867Ter) n.6150A>T c.3262A>T (p.Lys1088Ter) n.5781A>T | |
| 1 | g.235774948T>C | CA344950989 | LYST | c.274A>G (p.Lys92Glu) c.*1023A>G (n.*1023A>G) c.195A>G c.31A>G (p.Lys11Glu) c.5599A>G (p.Lys1867Glu) n.6150A>G c.3262A>G (p.Lys1088Glu) n.5781A>G | gnomAD v4 |
| 1 | g.235774948T>G | CA344950988 | LYST | c.274A>C (p.Lys92Gln) c.*1023A>C (n.*1023A>C) c.195A>C c.31A>C (p.Lys11Gln) c.5599A>C (p.Lys1867Gln) n.6150A>C c.3262A>C (p.Lys1088Gln) n.5781A>C | |
| 1 | g.235774949G>A | CA423776673 | LYST | c.273C>T (p.Ile91=) c.*1022C>T (n.*1022C>T) c.194C>T c.30C>T (p.Ile10=) c.5598C>T (p.Ile1866=) n.6149C>T c.3261C>T (p.Ile1087=) n.5780C>T | |
| 1 | g.235774949G>C | CA1466592 | LYST | c.273C>G (p.Ile91Met) c.*1022C>G (n.*1022C>G) c.194C>G c.30C>G (p.Ile10Met) c.5598C>G (p.Ile1866Met) n.6149C>G c.3261C>G (p.Ile1087Met) n.5780C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.235774949G= | CA2486638260 | LYST | c.273C= (p.Ile91=) c.*1022C= (n.*1022C=) c.194C= c.30C= (p.Ile10=) c.5598C= (p.Ile1866=) n.6149C= c.3261C= (p.Ile1087=) n.5780C= | |
| 1 | g.235774949G>T | CA423776674 | LYST | c.273C>A (p.Ile91=) c.*1022C>A (n.*1022C>A) c.194C>A c.30C>A (p.Ile10=) c.5598C>A (p.Ile1866=) n.6149C>A c.3261C>A (p.Ile1087=) n.5780C>A | gnomAD v4 |
| 1 | g.235774950A= | CA2486638261 | LYST | c.272T= (p.Ile91=) c.*1021T= (n.*1021T=) c.193T= c.29T= (p.Ile10=) c.5597T= (p.Ile1866=) n.6148T= c.3260T= (p.Ile1087=) n.5779T= | |
| 1 | g.235774950A>C | CA344950996 | LYST | c.272T>G (p.Ile91Ser) c.*1021T>G (n.*1021T>G) c.193T>G c.29T>G (p.Ile10Ser) c.5597T>G (p.Ile1866Ser) n.6148T>G c.3260T>G (p.Ile1087Ser) n.5779T>G | |
| 1 | g.235774950A>G | CA344950998 | LYST | c.272T>C (p.Ile91Thr) c.*1021T>C (n.*1021T>C) c.193T>C c.29T>C (p.Ile10Thr) c.5597T>C (p.Ile1866Thr) n.6148T>C c.3260T>C (p.Ile1087Thr) n.5779T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774950A>T | CA344951005 | LYST | c.272T>A (p.Ile91Asn) c.*1021T>A (n.*1021T>A) c.193T>A c.29T>A (p.Ile10Asn) c.5597T>A (p.Ile1866Asn) n.6148T>A c.3260T>A (p.Ile1087Asn) n.5779T>A | |
| 1 | g.235774951T>A | CA344951007 | LYST | c.271A>T (p.Ile91Phe) c.*1020A>T (n.*1020A>T) c.192A>T c.28A>T (p.Ile10Phe) c.5596A>T (p.Ile1866Phe) n.6147A>T c.3259A>T (p.Ile1087Phe) n.5778A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.235774951T>C | CA344951009 | LYST | c.271A>G (p.Ile91Val) c.*1020A>G (n.*1020A>G) c.192A>G c.28A>G (p.Ile10Val) c.5596A>G (p.Ile1866Val) n.6147A>G c.3259A>G (p.Ile1087Val) n.5778A>G | |
| 1 | g.235774951T>G | CA344951011 | LYST | c.271A>C (p.Ile91Leu) c.*1020A>C (n.*1020A>C) c.192A>C c.28A>C (p.Ile10Leu) c.5596A>C (p.Ile1866Leu) n.6147A>C c.3259A>C (p.Ile1087Leu) n.5778A>C | |
| 1 | g.235774951T= | CA2486638262 | LYST | c.271A= (p.Ile91=) c.*1020A= (n.*1020A=) c.192A= c.28A= (p.Ile10=) c.5596A= (p.Ile1866=) n.6147A= c.3259A= (p.Ile1087=) n.5778A= | |
| 1 | g.235774952C>A | CA344951012 | LYST | c.270G>T (p.Leu90Phe) c.*1019G>T (n.*1019G>T) c.191G>T c.27G>T (p.Leu9Phe) c.5595G>T (p.Leu1865Phe) n.6146G>T c.3258G>T (p.Leu1086Phe) n.5777G>T | |
| 1 | g.235774952C= | CA2486638263 | LYST | c.270G= (p.Leu90=) c.*1019G= (n.*1019G=) c.191G= c.27G= (p.Leu9=) c.5595G= (p.Leu1865=) n.6146G= c.3258G= (p.Leu1086=) n.5777G= | |
| 1 | g.235774952C>G | CA344951013 | LYST | c.270G>C (p.Leu90Phe) c.*1019G>C (n.*1019G>C) c.191G>C c.27G>C (p.Leu9Phe) c.5595G>C (p.Leu1865Phe) n.6146G>C c.3258G>C (p.Leu1086Phe) n.5777G>C | |
| 1 | g.235774952C>T | CA423776675 | LYST | c.270G>A (p.Leu90=) c.*1019G>A (n.*1019G>A) c.191G>A c.27G>A (p.Leu9=) c.5595G>A (p.Leu1865=) n.6146G>A c.3258G>A (p.Leu1086=) n.5777G>A | |
| 1 | g.235774953A>C | CA344951014 | LYST | c.269T>G (p.Leu90Trp) c.*1018T>G (n.*1018T>G) c.190T>G c.26T>G (p.Leu9Trp) c.5594T>G (p.Leu1865Trp) n.6145T>G c.3257T>G (p.Leu1086Trp) n.5776T>G | |
| 1 | g.235774953A>G | CA344951015 | LYST | c.269T>C (p.Leu90Ser) c.*1018T>C (n.*1018T>C) c.190T>C c.26T>C (p.Leu9Ser) c.5594T>C (p.Leu1865Ser) n.6145T>C c.3257T>C (p.Leu1086Ser) n.5776T>C | |
| 1 | g.235774953A>T | CA344951016 | LYST | c.269T>A (p.Leu90Ter) c.*1018T>A (n.*1018T>A) c.190T>A c.26T>A (p.Leu9Ter) c.5594T>A (p.Leu1865Ter) n.6145T>A c.3257T>A (p.Leu1086Ter) n.5776T>A | |
| 1 | g.235774954dup | CA2486638264 | LYST | c.269dup (p.Leu90PhefsTer18) c.*1018dup (n.*1018dup) c.190dup c.26dup (p.Leu9PhefsTer18) c.5594dup (p.Leu1865PhefsTer18) n.6145dup c.3257dup (p.Leu1086PhefsTer18) n.5776dup | dbSNP |
| 1 | g.235774954A>C | CA344951017 | LYST | c.268T>G (p.Leu90Val) c.*1017T>G (n.*1017T>G) c.189T>G c.25T>G (p.Leu9Val) c.5593T>G (p.Leu1865Val) n.6144T>G c.3256T>G (p.Leu1086Val) n.5775T>G | |
| 1 | g.235774954A>G | CA423776676 | LYST | c.268T>C (p.Leu90=) c.*1017T>C (n.*1017T>C) c.189T>C c.25T>C (p.Leu9=) c.5593T>C (p.Leu1865=) n.6144T>C c.3256T>C (p.Leu1086=) n.5775T>C | |
| 1 | g.235774954A>T | CA344951020 | LYST | c.268T>A (p.Leu90Met) c.*1017T>A (n.*1017T>A) c.189T>A c.25T>A (p.Leu9Met) c.5593T>A (p.Leu1865Met) n.6144T>A c.3256T>A (p.Leu1086Met) n.5775T>A | |
| 1 | g.235774955C>A | CA423776678 | LYST | c.267G>T (p.Val89=) c.*1016G>T (n.*1016G>T) c.188G>T c.24G>T (p.Val8=) c.5592G>T (p.Val1864=) n.6143G>T c.3255G>T (p.Val1085=) n.5774G>T | |
| 1 | g.235774955C= | CA2486638265 | LYST | c.267G= (p.Val89=) c.*1016G= (n.*1016G=) c.188G= c.24G= (p.Val8=) c.5592G= (p.Val1864=) n.6143G= c.3255G= (p.Val1085=) n.5774G= | |
| 1 | g.235774955C>G | CA423776677 | LYST | c.267G>C (p.Val89=) c.*1016G>C (n.*1016G>C) c.188G>C c.24G>C (p.Val8=) c.5592G>C (p.Val1864=) n.6143G>C c.3255G>C (p.Val1085=) n.5774G>C | |
| 1 | g.235774955C>T | CA1466593 | LYST | c.267G>A (p.Val89=) c.*1016G>A (n.*1016G>A) c.188G>A c.24G>A (p.Val8=) c.5592G>A (p.Val1864=) n.6143G>A c.3255G>A (p.Val1085=) n.5774G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774956A>C | CA344951027 | LYST | c.266T>G (p.Val89Gly) c.*1015T>G (n.*1015T>G) c.187T>G c.23T>G (p.Val8Gly) c.5591T>G (p.Val1864Gly) n.6142T>G c.3254T>G (p.Val1085Gly) n.5773T>G | |
| 1 | g.235774956A>G | CA344951030 | LYST | c.266T>C (p.Val89Ala) c.*1015T>C (n.*1015T>C) c.187T>C c.23T>C (p.Val8Ala) c.5591T>C (p.Val1864Ala) n.6142T>C c.3254T>C (p.Val1085Ala) n.5773T>C | |
| 1 | g.235774956A>T | CA344951047 | LYST | c.266T>A (p.Val89Glu) c.*1015T>A (n.*1015T>A) c.187T>A c.23T>A (p.Val8Glu) c.5591T>A (p.Val1864Glu) n.6142T>A c.3254T>A (p.Val1085Glu) n.5773T>A | |
| 1 | g.235774957C>A | CA1466594 | LYST | c.265G>T (p.Val89Leu) c.*1014G>T (n.*1014G>T) c.186G>T c.22G>T (p.Val8Leu) c.5590G>T (p.Val1864Leu) n.6141G>T c.3253G>T (p.Val1085Leu) n.5772G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774957C= | CA1141696528 | LYST | c.265G= (p.Val89=) c.*1014G= (n.*1014G=) c.186G= c.22G= (p.Val8=) c.5590G= (p.Val1864=) n.6141G= c.3253G= (p.Val1085=) n.5772G= | |
| 1 | g.235774957C>G | CA1466595 | LYST | c.265G>C (p.Val89Leu) c.*1014G>C (n.*1014G>C) c.186G>C c.22G>C (p.Val8Leu) c.5590G>C (p.Val1864Leu) n.6141G>C c.3253G>C (p.Val1085Leu) n.5772G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774957C>T | CA344951053 | LYST | c.265G>A (p.Val89Met) c.*1014G>A (n.*1014G>A) c.186G>A c.22G>A (p.Val8Met) c.5590G>A (p.Val1864Met) n.6141G>A c.3253G>A (p.Val1085Met) n.5772G>A | gnomAD v4 |
| 1 | g.235774958C>A | CA344951054 | LYST | c.264G>T (p.Gln88His) c.*1013G>T (n.*1013G>T) c.185G>T c.21G>T (p.Gln7His) c.5589G>T (p.Gln1863His) n.6140G>T c.3252G>T (p.Gln1084His) n.5771G>T | |
| 1 | g.235774958C>G | CA344951058 | LYST | c.264G>C (p.Gln88His) c.*1013G>C (n.*1013G>C) c.185G>C c.21G>C (p.Gln7His) c.5589G>C (p.Gln1863His) n.6140G>C c.3252G>C (p.Gln1084His) n.5771G>C | |
| 1 | g.235774958C>T | CA423776679 | LYST | c.264G>A (p.Gln88=) c.*1013G>A (n.*1013G>A) c.185G>A c.21G>A (p.Gln7=) c.5589G>A (p.Gln1863=) n.6140G>A c.3252G>A (p.Gln1084=) n.5771G>A | |
| 1 | g.235774959T>A | CA344951061 | LYST | c.263A>T (p.Gln88Leu) c.*1012A>T (n.*1012A>T) c.184A>T c.20A>T (p.Gln7Leu) c.5588A>T (p.Gln1863Leu) n.6139A>T c.3251A>T (p.Gln1084Leu) n.5770A>T | |
| 1 | g.235774959T>C | CA344951063 | LYST | c.263A>G (p.Gln88Arg) c.*1012A>G (n.*1012A>G) c.184A>G c.20A>G (p.Gln7Arg) c.5588A>G (p.Gln1863Arg) n.6139A>G c.3251A>G (p.Gln1084Arg) n.5770A>G | ClinVar dbSNP |
| 1 | g.235774959T>G | CA344951066 | LYST | c.263A>C (p.Gln88Pro) c.*1012A>C (n.*1012A>C) c.184A>C c.20A>C (p.Gln7Pro) c.5588A>C (p.Gln1863Pro) n.6139A>C c.3251A>C (p.Gln1084Pro) n.5770A>C | gnomAD v4 |
| 1 | g.235774959T= | CA2486638266 | LYST | c.263A= (p.Gln88=) c.*1012A= (n.*1012A=) c.184A= c.20A= (p.Gln7=) c.5588A= (p.Gln1863=) n.6139A= c.3251A= (p.Gln1084=) n.5770A= | |
| 1 | g.235774960G>A | CA344951068 | LYST | c.262C>T (p.Gln88Ter) c.*1011C>T (n.*1011C>T) c.183C>T c.19C>T (p.Gln7Ter) c.5587C>T (p.Gln1863Ter) n.6138C>T c.3250C>T (p.Gln1084Ter) n.5769C>T | |
| 1 | g.235774960G>C | CA344951069 | LYST | c.262C>G (p.Gln88Glu) c.*1011C>G (n.*1011C>G) c.183C>G c.19C>G (p.Gln7Glu) c.5587C>G (p.Gln1863Glu) n.6138C>G c.3250C>G (p.Gln1084Glu) n.5769C>G | |
| 1 | g.235774960G>T | CA344951070 | LYST | c.262C>A (p.Gln88Lys) c.*1011C>A (n.*1011C>A) c.183C>A c.19C>A (p.Gln7Lys) c.5587C>A (p.Gln1863Lys) n.6138C>A c.3250C>A (p.Gln1084Lys) n.5769C>A | |
| 1 | g.235774961A>C | CA344951078 | LYST | c.261T>G (p.His87Gln) c.*1010T>G (n.*1010T>G) c.182T>G c.18T>G (p.His6Gln) c.5586T>G (p.His1862Gln) n.6137T>G c.3249T>G (p.His1083Gln) n.5768T>G | |
| 1 | g.235774961A>G | CA423776681 | LYST | c.261T>C (p.His87=) c.*1010T>C (n.*1010T>C) c.182T>C c.18T>C (p.His6=) c.5586T>C (p.His1862=) n.6137T>C c.3249T>C (p.His1083=) n.5768T>C | |
| 1 | g.235774961A>T | CA344951072 | LYST | c.261T>A (p.His87Gln) c.*1010T>A (n.*1010T>A) c.182T>A c.18T>A (p.His6Gln) c.5586T>A (p.His1862Gln) n.6137T>A c.3249T>A (p.His1083Gln) n.5768T>A | |
| 1 | g.235774961_235774962insGTTTTTA | CA2651137411 | LYST | c.261_262insAAAAACT (p.Gln88LysfsTer22) c.*1010_*1011insAAAAACT (n.*1010_*1011insAAAAACT) c.182_183insAAAAACT c.18_19insAAAAACT (p.Gln7LysfsTer22) c.5586_5587insAAAAACT (p.Gln1863LysfsTer22) n.6137_6138insAAAAACT c.3249_3250insAAAAACT (p.Gln1084LysfsTer22) n.5768_5769insAAAAACT | gnomAD v4 |
| 1 | g.235774962T>A | CA344951080 | LYST | c.260A>T (p.His87Leu) c.*1009A>T (n.*1009A>T) c.181A>T c.17A>T (p.His6Leu) c.5585A>T (p.His1862Leu) n.6136A>T c.3248A>T (p.His1083Leu) n.5767A>T | |
| 1 | g.235774962T>C | CA344951085 | LYST | c.260A>G (p.His87Arg) c.*1009A>G (n.*1009A>G) c.181A>G c.17A>G (p.His6Arg) c.5585A>G (p.His1862Arg) n.6136A>G c.3248A>G (p.His1083Arg) n.5767A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774962T>G | CA344951081 | LYST | c.260A>C (p.His87Pro) c.*1009A>C (n.*1009A>C) c.181A>C c.17A>C (p.His6Pro) c.5585A>C (p.His1862Pro) n.6136A>C c.3248A>C (p.His1083Pro) n.5767A>C | |
| 1 | g.235774962T= | CA2486638267 | LYST | c.260A= (p.His87=) c.*1009A= (n.*1009A=) c.181A= c.17A= (p.His6=) c.5585A= (p.His1862=) n.6136A= c.3248A= (p.His1083=) n.5767A= | |
| 1 | g.235774963G>A | CA344951087 | LYST | c.259C>T (p.His87Tyr) c.*1008C>T (n.*1008C>T) c.180C>T c.16C>T (p.His6Tyr) c.5584C>T (p.His1862Tyr) n.6135C>T c.3247C>T (p.His1083Tyr) n.5766C>T | |
| 1 | g.235774963G>C | CA344951091 | LYST | c.259C>G (p.His87Asp) c.*1008C>G (n.*1008C>G) c.180C>G c.16C>G (p.His6Asp) c.5584C>G (p.His1862Asp) n.6135C>G c.3247C>G (p.His1083Asp) n.5766C>G | |
| 1 | g.235774963G>T | CA344951089 | LYST | c.259C>A (p.His87Asn) c.*1008C>A (n.*1008C>A) c.180C>A c.16C>A (p.His6Asn) c.5584C>A (p.His1862Asn) n.6135C>A c.3247C>A (p.His1083Asn) n.5766C>A | |
| 1 | g.235774964A= | CA2486638268 | LYST | c.258T= (p.Ile86=) c.*1007T= (n.*1007T=) c.179T= c.15T= (p.Ile5=) c.5583T= (p.Ile1861=) n.6134T= c.3246T= (p.Ile1082=) n.5765T= | |
| 1 | g.235774964A>C | CA344951092 | LYST | c.258T>G (p.Ile86Met) c.*1007T>G (n.*1007T>G) c.179T>G c.15T>G (p.Ile5Met) c.5583T>G (p.Ile1861Met) n.6134T>G c.3246T>G (p.Ile1082Met) n.5765T>G | |
| 1 | g.235774964A>G | CA39621521 | LYST | c.258T>C (p.Ile86=) c.*1007T>C (n.*1007T>C) c.179T>C c.15T>C (p.Ile5=) c.5583T>C (p.Ile1861=) n.6134T>C c.3246T>C (p.Ile1082=) n.5765T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774964A>T | CA423776682 | LYST | c.258T>A (p.Ile86=) c.*1007T>A (n.*1007T>A) c.179T>A c.15T>A (p.Ile5=) c.5583T>A (p.Ile1861=) n.6134T>A c.3246T>A (p.Ile1082=) n.5765T>A | |
| 1 | g.235774965A>C | CA344951101 | LYST | c.257T>G (p.Ile86Ser) c.*1006T>G (n.*1006T>G) c.178T>G c.14T>G (p.Ile5Ser) c.5582T>G (p.Ile1861Ser) n.6133T>G c.3245T>G (p.Ile1082Ser) n.5764T>G | |
| 1 | g.235774965A>G | CA344951094 | LYST | c.257T>C (p.Ile86Thr) c.*1006T>C (n.*1006T>C) c.178T>C c.14T>C (p.Ile5Thr) c.5582T>C (p.Ile1861Thr) n.6133T>C c.3245T>C (p.Ile1082Thr) n.5764T>C | |
| 1 | g.235774965A>T | CA344951096 | LYST | c.257T>A (p.Ile86Asn) c.*1006T>A (n.*1006T>A) c.178T>A c.14T>A (p.Ile5Asn) c.5582T>A (p.Ile1861Asn) n.6133T>A c.3245T>A (p.Ile1082Asn) n.5764T>A | |
| 1 | g.235774966T>A | CA344951103 | LYST | c.256A>T (p.Ile86Phe) c.*1005A>T (n.*1005A>T) c.177A>T c.13A>T (p.Ile5Phe) c.5581A>T (p.Ile1861Phe) n.6132A>T c.3244A>T (p.Ile1082Phe) n.5763A>T | dbSNP |
| 1 | g.235774966T>C | CA344951104 | LYST | c.256A>G (p.Ile86Val) c.*1005A>G (n.*1005A>G) c.177A>G c.13A>G (p.Ile5Val) c.5581A>G (p.Ile1861Val) n.6132A>G c.3244A>G (p.Ile1082Val) n.5763A>G | |
| 1 | g.235774966T>G | CA344951107 | LYST | c.256A>C (p.Ile86Leu) c.*1005A>C (n.*1005A>C) c.177A>C c.13A>C (p.Ile5Leu) c.5581A>C (p.Ile1861Leu) n.6132A>C c.3244A>C (p.Ile1082Leu) n.5763A>C | |
| 1 | g.235774966T= | CA2486638269 | LYST | c.256A= (p.Ile86=) c.*1005A= (n.*1005A=) c.177A= c.13A= (p.Ile5=) c.5581A= (p.Ile1861=) n.6132A= c.3244A= (p.Ile1082=) n.5763A= | |
| 1 | g.235774967C>A | CA344951111 | LYST | c.255G>T (p.Met85Ile) c.*1004G>T (n.*1004G>T) c.176G>T c.12G>T (p.Met4Ile) c.5580G>T (p.Met1860Ile) n.6131G>T c.3243G>T (p.Met1081Ile) n.5762G>T | |
| 1 | g.235774967C>G | CA344951113 | LYST | c.255G>C (p.Met85Ile) c.*1004G>C (n.*1004G>C) c.176G>C c.12G>C (p.Met4Ile) c.5580G>C (p.Met1860Ile) n.6131G>C c.3243G>C (p.Met1081Ile) n.5762G>C | |
| 1 | g.235774967C>T | CA344951116 | LYST | c.255G>A (p.Met85Ile) c.*1004G>A (n.*1004G>A) c.176G>A c.12G>A (p.Met4Ile) c.5580G>A (p.Met1860Ile) n.6131G>A c.3243G>A (p.Met1081Ile) n.5762G>A | |
| 1 | g.235774968A>C | CA344951119 | LYST | c.254T>G (p.Met85Arg) c.*1003T>G (n.*1003T>G) c.175T>G c.11T>G (p.Met4Arg) c.5579T>G (p.Met1860Arg) n.6130T>G c.3242T>G (p.Met1081Arg) n.5761T>G | |
| 1 | g.235774968A>G | CA344951124 | LYST | c.254T>C (p.Met85Thr) c.*1003T>C (n.*1003T>C) c.175T>C c.11T>C (p.Met4Thr) c.5579T>C (p.Met1860Thr) n.6130T>C c.3242T>C (p.Met1081Thr) n.5761T>C | |
| 1 | g.235774968A>T | CA344951127 | LYST | c.254T>A (p.Met85Lys) c.*1003T>A (n.*1003T>A) c.175T>A c.11T>A (p.Met4Lys) c.5579T>A (p.Met1860Lys) n.6130T>A c.3242T>A (p.Met1081Lys) n.5761T>A | |
| 1 | g.235774969T>A | CA344951131 | LYST | c.253A>T (p.Met85Leu) c.*1002A>T (n.*1002A>T) c.174A>T c.10A>T (p.Met4Leu) c.5578A>T (p.Met1860Leu) n.6129A>T c.3241A>T (p.Met1081Leu) n.5760A>T | |
| 1 | g.235774969T>C | CA39621523 | LYST | c.253A>G (p.Met85Val) c.*1002A>G (n.*1002A>G) c.174A>G c.10A>G (p.Met4Val) c.5578A>G (p.Met1860Val) n.6129A>G c.3241A>G (p.Met1081Val) n.5760A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774969T>G | CA1466596 | LYST | c.253A>C (p.Met85Leu) c.*1002A>C (n.*1002A>C) c.174A>C c.10A>C (p.Met4Leu) c.5578A>C (p.Met1860Leu) n.6129A>C c.3241A>C (p.Met1081Leu) n.5760A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774969T= | CA1143617408 | LYST | c.253A= (p.Met85=) c.*1002A= (n.*1002A=) c.174A= c.10A= (p.Met4=) c.5578A= (p.Met1860=) n.6129A= c.3241A= (p.Met1081=) n.5760A= | |
| 1 | g.235774970A= | CA2486638270 | LYST | c.252T= (p.Ser84=) c.*1001T= (n.*1001T=) c.173T= c.9T= (p.Ser3=) c.5577T= (p.Ser1859=) n.6128T= c.3240T= (p.Ser1080=) n.5759T= | |
| 1 | g.235774970A>C | CA423776683 | LYST | c.252T>G (p.Ser84=) c.*1001T>G (n.*1001T>G) c.173T>G c.9T>G (p.Ser3=) c.5577T>G (p.Ser1859=) n.6128T>G c.3240T>G (p.Ser1080=) n.5759T>G | |
| 1 | g.235774970A>G | CA423776684 | LYST | c.252T>C (p.Ser84=) c.*1001T>C (n.*1001T>C) c.173T>C c.9T>C (p.Ser3=) c.5577T>C (p.Ser1859=) n.6128T>C c.3240T>C (p.Ser1080=) n.5759T>C | |
| 1 | g.235774970A>T | CA423776685 | LYST | c.252T>A (p.Ser84=) c.*1001T>A (n.*1001T>A) c.173T>A c.9T>A (p.Ser3=) c.5577T>A (p.Ser1859=) n.6128T>A c.3240T>A (p.Ser1080=) n.5759T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774971G>A | CA344951133 | LYST | c.251C>T (p.Ser84Phe) c.*1000C>T (n.*1000C>T) c.172C>T c.8C>T (p.Ser3Phe) c.5576C>T (p.Ser1859Phe) n.6127C>T c.3239C>T (p.Ser1080Phe) n.5758C>T | |
| 1 | g.235774971G>C | CA344951135 | LYST | c.251C>G (p.Ser84Cys) c.*1000C>G (n.*1000C>G) c.172C>G c.8C>G (p.Ser3Cys) c.5576C>G (p.Ser1859Cys) n.6127C>G c.3239C>G (p.Ser1080Cys) n.5758C>G | |
| 1 | g.235774971G= | CA2486638271 | LYST | c.251C= (p.Ser84=) c.*1000C= (n.*1000C=) c.172C= c.8C= (p.Ser3=) c.5576C= (p.Ser1859=) n.6127C= c.3239C= (p.Ser1080=) n.5758C= | |
| 1 | g.235774971G>T | CA344951138 | LYST | c.251C>A (p.Ser84Tyr) c.*1000C>A (n.*1000C>A) c.172C>A c.8C>A (p.Ser3Tyr) c.5576C>A (p.Ser1859Tyr) n.6127C>A c.3239C>A (p.Ser1080Tyr) n.5758C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774972A= | CA1143720001 | LYST | c.250T= (p.Ser84=) c.*999T= (n.*999T=) c.171T= c.7T= (p.Ser3=) c.5575T= (p.Ser1859=) n.6126T= c.3238T= (p.Ser1080=) n.5757T= | |
| 1 | g.235774972A>C | CA344951150 | LYST | c.250T>G (p.Ser84Ala) c.*999T>G (n.*999T>G) c.171T>G c.7T>G (p.Ser3Ala) c.5575T>G (p.Ser1859Ala) n.6126T>G c.3238T>G (p.Ser1080Ala) n.5757T>G | |
| 1 | g.235774972A>G | CA344951152 | LYST | c.250T>C (p.Ser84Pro) c.*999T>C (n.*999T>C) c.171T>C c.7T>C (p.Ser3Pro) c.5575T>C (p.Ser1859Pro) n.6126T>C c.3238T>C (p.Ser1080Pro) n.5757T>C | dbSNP |
| 1 | g.235774972A>T | CA1466597 | LYST | c.250T>A (p.Ser84Thr) c.*999T>A (n.*999T>A) c.171T>A c.7T>A (p.Ser3Thr) c.5575T>A (p.Ser1859Thr) n.6126T>A c.3238T>A (p.Ser1080Thr) n.5757T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774973A>C | CA423776686 | LYST | c.249T>G (p.Leu83=) c.*998T>G (n.*998T>G) c.170T>G c.6T>G (p.Leu2=) c.5574T>G (p.Leu1858=) n.6125T>G c.3237T>G (p.Leu1079=) n.5756T>G | |
| 1 | g.235774973A>G | CA423776687 | LYST | c.249T>C (p.Leu83=) c.*998T>C (n.*998T>C) c.170T>C c.6T>C (p.Leu2=) c.5574T>C (p.Leu1858=) n.6125T>C c.3237T>C (p.Leu1079=) n.5756T>C | ClinVar |
| 1 | g.235774973A>T | CA423776688 | LYST | c.249T>A (p.Leu83=) c.*998T>A (n.*998T>A) c.170T>A c.6T>A (p.Leu2=) c.5574T>A (p.Leu1858=) n.6125T>A c.3237T>A (p.Leu1079=) n.5756T>A | |
| 1 | g.235774974A>C | CA344951161 | LYST | c.248T>G (p.Leu83Arg) c.*997T>G (n.*997T>G) c.169T>G c.5T>G (p.Leu2Arg) c.5573T>G (p.Leu1858Arg) n.6124T>G c.3236T>G (p.Leu1079Arg) n.5755T>G | |
| 1 | g.235774974A>G | CA344951162 | LYST | c.248T>C (p.Leu83Pro) c.*997T>C (n.*997T>C) c.169T>C c.5T>C (p.Leu2Pro) c.5573T>C (p.Leu1858Pro) n.6124T>C c.3236T>C (p.Leu1079Pro) n.5755T>C | |
| 1 | g.235774974A>T | CA344951163 | LYST | c.248T>A (p.Leu83His) c.*997T>A (n.*997T>A) c.169T>A c.5T>A (p.Leu2His) c.5573T>A (p.Leu1858His) n.6124T>A c.3236T>A (p.Leu1079His) n.5755T>A | |
| 1 | g.235774975G>A | CA344951165 | LYST | c.247C>T (p.Leu83Phe) c.*996C>T (n.*996C>T) c.168C>T c.4C>T (p.Leu2Phe) c.5572C>T (p.Leu1858Phe) n.6123C>T c.3235C>T (p.Leu1079Phe) n.5754C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774975G>C | CA344951168 | LYST | c.247C>G (p.Leu83Val) c.*996C>G (n.*996C>G) c.168C>G c.4C>G (p.Leu2Val) c.5572C>G (p.Leu1858Val) n.6123C>G c.3235C>G (p.Leu1079Val) n.5754C>G | |
| 1 | g.235774975G= | CA2486638272 | LYST | c.247C= (p.Leu83=) c.*996C= (n.*996C=) c.168C= c.4C= (p.Leu2=) c.5572C= (p.Leu1858=) n.6123C= c.3235C= (p.Leu1079=) n.5754C= | |
| 1 | g.235774975G>T | CA344951171 | LYST | c.247C>A (p.Leu83Ile) c.*996C>A (n.*996C>A) c.168C>A c.4C>A (p.Leu2Ile) c.5572C>A (p.Leu1858Ile) n.6123C>A c.3235C>A (p.Leu1079Ile) n.5754C>A | |
| 1 | g.235774976T>A | CA423776689 | LYST | c.246A>T (p.Gly82=) c.*995A>T (n.*995A>T) c.167A>T c.3A>T (p.Gly1=) c.5571A>T (p.Gly1857=) n.6122A>T c.3234A>T (p.Gly1078=) n.5753A>T | |
| 1 | g.235774976T>C | CA423776690 | LYST | c.246A>G (p.Gly82=) c.*995A>G (n.*995A>G) c.167A>G c.3A>G (p.Gly1=) c.5571A>G (p.Gly1857=) n.6122A>G c.3234A>G (p.Gly1078=) n.5753A>G | gnomAD v4 |
| 1 | g.235774976T>G | CA423776691 | LYST | c.246A>C (p.Gly82=) c.*995A>C (n.*995A>C) c.167A>C c.3A>C (p.Gly1=) c.5571A>C (p.Gly1857=) n.6122A>C c.3234A>C (p.Gly1078=) n.5753A>C | |
| 1 | g.235774977C>A | CA344951181 | LYST | c.245G>T (p.Gly82Val) c.*994G>T (n.*994G>T) c.166G>T c.2G>T (p.Gly1Val) c.5570G>T (p.Gly1857Val) n.6121G>T c.3233G>T (p.Gly1078Val) n.5752G>T | |
| 1 | g.235774977C>G | CA344951178 | LYST | c.245G>C (p.Gly82Ala) c.*994G>C (n.*994G>C) c.166G>C c.2G>C (p.Gly1Ala) c.5570G>C (p.Gly1857Ala) n.6121G>C c.3233G>C (p.Gly1078Ala) n.5752G>C | |
| 1 | g.235774977C>T | CA344951174 | LYST | c.245G>A (p.Gly82Glu) c.*994G>A (n.*994G>A) c.166G>A c.2G>A (p.Gly1Glu) c.5570G>A (p.Gly1857Glu) n.6121G>A c.3233G>A (p.Gly1078Glu) n.5752G>A | |
| 1 | g.235774978C>A | CA344951183 | LYST | c.244G>T (p.Gly82Ter) c.*993G>T (n.*993G>T) c.165G>T c.1G>T (p.Gly1Ter) c.5569G>T (p.Gly1857Ter) n.6120G>T c.3232G>T (p.Gly1078Ter) n.5751G>T | |
| 1 | g.235774978C= | CA2486638273 | LYST | c.244G= (p.Gly82=) c.*993G= (n.*993G=) c.165G= c.1G= (p.Gly1=) c.5569G= (p.Gly1857=) n.6120G= c.3232G= (p.Gly1078=) n.5751G= | |
| 1 | g.235774978C>G | CA344951187 | LYST | c.244G>C (p.Gly82Arg) c.*993G>C (n.*993G>C) c.165G>C c.1G>C (p.Gly1Arg) c.5569G>C (p.Gly1857Arg) n.6120G>C c.3232G>C (p.Gly1078Arg) n.5751G>C | |
| 1 | g.235774978C>T | CA344951190 | LYST | c.244G>A (p.Gly82Arg) c.*993G>A (n.*993G>A) c.165G>A c.1G>A (p.Gly1Arg) c.5569G>A (p.Gly1857Arg) n.6120G>A c.3232G>A (p.Gly1078Arg) n.5751G>A | dbSNP |
| 1 | g.235774979A>C | CA344951193 | LYST | c.243T>G (p.Asn81Lys) c.*992T>G (n.*992T>G) c.164T>G c.5568T>G (p.Asn1856Lys) n.6119T>G c.3231T>G (p.Asn1077Lys) n.5750T>G | |
| 1 | g.235774979A>G | CA423776692 | LYST | c.243T>C (p.Asn81=) c.*992T>C (n.*992T>C) c.164T>C c.5568T>C (p.Asn1856=) n.6119T>C c.3231T>C (p.Asn1077=) n.5750T>C | |
| 1 | g.235774979A>T | CA344951195 | LYST | c.243T>A (p.Asn81Lys) c.*992T>A (n.*992T>A) c.164T>A c.5568T>A (p.Asn1856Lys) n.6119T>A c.3231T>A (p.Asn1077Lys) n.5750T>A | |
| 1 | g.235774980T>A | CA344951196 | LYST | c.242A>T (p.Asn81Ile) c.*991A>T (n.*991A>T) c.163A>T c.5567A>T (p.Asn1856Ile) n.6118A>T c.3230A>T (p.Asn1077Ile) n.5749A>T | |
| 1 | g.235774980T>C | CA344951197 | LYST | c.242A>G (p.Asn81Ser) c.*991A>G (n.*991A>G) c.163A>G c.5567A>G (p.Asn1856Ser) n.6118A>G c.3230A>G (p.Asn1077Ser) n.5749A>G | |
| 1 | g.235774980T>G | CA344951199 | LYST | c.242A>C (p.Asn81Thr) c.*991A>C (n.*991A>C) c.163A>C c.5567A>C (p.Asn1856Thr) n.6118A>C c.3230A>C (p.Asn1077Thr) n.5749A>C | |
| 1 | g.235774981T>A | CA344951201 | LYST | c.241A>T (p.Asn81Tyr) c.*990A>T (n.*990A>T) c.162A>T c.5566A>T (p.Asn1856Tyr) n.6117A>T c.3229A>T (p.Asn1077Tyr) n.5748A>T | |
| 1 | g.235774981T>C | CA344951203 | LYST | c.241A>G (p.Asn81Asp) c.*990A>G (n.*990A>G) c.162A>G c.5566A>G (p.Asn1856Asp) n.6117A>G c.3229A>G (p.Asn1077Asp) n.5748A>G | |
| 1 | g.235774981T>G | CA344951216 | LYST | c.241A>C (p.Asn81His) c.*990A>C (n.*990A>C) c.162A>C c.5566A>C (p.Asn1856His) n.6117A>C c.3229A>C (p.Asn1077His) n.5748A>C | |
| 1 | g.235774982A= | CA2486638274 | LYST | c.240T= (p.Cys80=) c.*989T= (n.*989T=) c.161T= c.5565T= (p.Cys1855=) n.6116T= c.3228T= (p.Cys1076=) n.5747T= | |
| 1 | g.235774982A>C | CA344951219 | LYST | c.240T>G (p.Cys80Trp) c.*989T>G (n.*989T>G) c.161T>G c.5565T>G (p.Cys1855Trp) n.6116T>G c.3228T>G (p.Cys1076Trp) n.5747T>G | |
| 1 | g.235774982A>G | CA423776693 | LYST | c.240T>C (p.Cys80=) c.*989T>C (n.*989T>C) c.161T>C c.5565T>C (p.Cys1855=) n.6116T>C c.3228T>C (p.Cys1076=) n.5747T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774982A>T | CA344951223 | LYST | c.240T>A (p.Cys80Ter) c.*989T>A (n.*989T>A) c.161T>A c.5565T>A (p.Cys1855Ter) n.6116T>A c.3228T>A (p.Cys1076Ter) n.5747T>A | |
| 1 | g.235774983C>A | CA344951226 | LYST | c.239G>T (p.Cys80Phe) c.*988G>T (n.*988G>T) c.160G>T c.5564G>T (p.Cys1855Phe) n.6115G>T c.3227G>T (p.Cys1076Phe) n.5746G>T | |
| 1 | g.235774983C= | CA2486638275 | LYST | c.239G= (p.Cys80=) c.*988G= (n.*988G=) c.160G= c.5564G= (p.Cys1855=) n.6115G= c.3227G= (p.Cys1076=) n.5746G= | |
| 1 | g.235774983C>G | CA344951237 | LYST | c.239G>C (p.Cys80Ser) c.*988G>C (n.*988G>C) c.160G>C c.5564G>C (p.Cys1855Ser) n.6115G>C c.3227G>C (p.Cys1076Ser) n.5746G>C | |
| 1 | g.235774983C>T | CA39621529 | LYST | c.239G>A (p.Cys80Tyr) c.*988G>A (n.*988G>A) c.160G>A c.5564G>A (p.Cys1855Tyr) n.6115G>A c.3227G>A (p.Cys1076Tyr) n.5746G>A | dbSNP gnomAD v4 |
| 1 | g.235774984A>C | CA344951241 | LYST | c.238T>G (p.Cys80Gly) c.*987T>G (n.*987T>G) c.159T>G c.5563T>G (p.Cys1855Gly) n.6114T>G c.3226T>G (p.Cys1076Gly) n.5745T>G | |
| 1 | g.235774984A>G | CA344951246 | LYST | c.238T>C (p.Cys80Arg) c.*987T>C (n.*987T>C) c.159T>C c.5563T>C (p.Cys1855Arg) n.6114T>C c.3226T>C (p.Cys1076Arg) n.5745T>C | |
| 1 | g.235774984A>T | CA344951249 | LYST | c.238T>A (p.Cys80Ser) c.*987T>A (n.*987T>A) c.159T>A c.5563T>A (p.Cys1855Ser) n.6114T>A c.3226T>A (p.Cys1076Ser) n.5745T>A | |
| 1 | g.235774985A>C | CA344951252 | LYST | c.237T>G (p.Asn79Lys) c.*986T>G (n.*986T>G) c.158T>G c.5562T>G (p.Asn1854Lys) n.6113T>G c.3225T>G (p.Asn1075Lys) n.5744T>G | |
| 1 | g.235774985A>G | CA423776694 | LYST | c.237T>C (p.Asn79=) c.*986T>C (n.*986T>C) c.158T>C c.5562T>C (p.Asn1854=) n.6113T>C c.3225T>C (p.Asn1075=) n.5744T>C | |
| 1 | g.235774985A>T | CA344951253 | LYST | c.237T>A (p.Asn79Lys) c.*986T>A (n.*986T>A) c.158T>A c.5562T>A (p.Asn1854Lys) n.6113T>A c.3225T>A (p.Asn1075Lys) n.5744T>A | |
| 1 | g.235774986T>A | CA344951256 | LYST | c.236A>T (p.Asn79Ile) c.*985A>T (n.*985A>T) c.157A>T c.5561A>T (p.Asn1854Ile) n.6112A>T c.3224A>T (p.Asn1075Ile) n.5743A>T | |
| 1 | g.235774986T>C | CA344951261 | LYST | c.236A>G (p.Asn79Ser) c.*985A>G (n.*985A>G) c.157A>G c.5561A>G (p.Asn1854Ser) n.6112A>G c.3224A>G (p.Asn1075Ser) n.5743A>G | |
| 1 | g.235774986T>G | CA344951265 | LYST | c.236A>C (p.Asn79Thr) c.*985A>C (n.*985A>C) c.157A>C c.5561A>C (p.Asn1854Thr) n.6112A>C c.3224A>C (p.Asn1075Thr) n.5743A>C | |
| 1 | g.235774987T>A | CA344951272 | LYST | c.235A>T (p.Asn79Tyr) c.*984A>T (n.*984A>T) c.156A>T c.5560A>T (p.Asn1854Tyr) n.6111A>T c.3223A>T (p.Asn1075Tyr) n.5742A>T | |
| 1 | g.235774987T>C | CA344951274 | LYST | c.235A>G (p.Asn79Asp) c.*984A>G (n.*984A>G) c.156A>G c.5560A>G (p.Asn1854Asp) n.6111A>G c.3223A>G (p.Asn1075Asp) n.5742A>G | |
| 1 | g.235774987T>G | CA344951277 | LYST | c.235A>C (p.Asn79His) c.*984A>C (n.*984A>C) c.156A>C c.5560A>C (p.Asn1854His) n.6111A>C c.3223A>C (p.Asn1075His) n.5742A>C | |
| 1 | g.235774988T>A | CA344951286 | LYST | c.234A>T (p.Glu78Asp) c.*983A>T (n.*983A>T) c.155A>T c.5559A>T (p.Glu1853Asp) n.6110A>T c.3222A>T (p.Glu1074Asp) n.5741A>T | |
| 1 | g.235774988T>C | CA423776695 | LYST | c.234A>G (p.Glu78=) c.*983A>G (n.*983A>G) c.155A>G c.5559A>G (p.Glu1853=) n.6110A>G c.3222A>G (p.Glu1074=) n.5741A>G | |
| 1 | g.235774988T>G | CA344951282 | LYST | c.234A>C (p.Glu78Asp) c.*983A>C (n.*983A>C) c.155A>C c.5559A>C (p.Glu1853Asp) n.6110A>C c.3222A>C (p.Glu1074Asp) n.5741A>C | |
| 1 | g.235774989T>A | CA344951288 | LYST | c.233A>T (p.Glu78Val) c.*982A>T (n.*982A>T) c.154A>T c.5558A>T (p.Glu1853Val) n.6109A>T c.3221A>T (p.Glu1074Val) n.5740A>T | |
| 1 | g.235774989T>C | CA344951292 | LYST | c.233A>G (p.Glu78Gly) c.*982A>G (n.*982A>G) c.154A>G c.5558A>G (p.Glu1853Gly) n.6109A>G c.3221A>G (p.Glu1074Gly) n.5740A>G | dbSNP gnomAD v4 |
| 1 | g.235774989T>G | CA344951296 | LYST | c.233A>C (p.Glu78Ala) c.*982A>C (n.*982A>C) c.154A>C c.5558A>C (p.Glu1853Ala) n.6109A>C c.3221A>C (p.Glu1074Ala) n.5740A>C | |
| 1 | g.235774989T= | CA2486638276 | LYST | c.233A= (p.Glu78=) c.*982A= (n.*982A=) c.154A= c.5558A= (p.Glu1853=) n.6109A= c.3221A= (p.Glu1074=) n.5740A= | |
| 1 | g.235774990C>A | CA344951299 | LYST | c.232G>T (p.Glu78Ter) c.*981G>T (n.*981G>T) c.153G>T c.5557G>T (p.Glu1853Ter) n.6108G>T c.3220G>T (p.Glu1074Ter) n.5739G>T | |
| 1 | g.235774990C>G | CA344951303 | LYST | c.232G>C (p.Glu78Gln) c.*981G>C (n.*981G>C) c.153G>C c.5557G>C (p.Glu1853Gln) n.6108G>C c.3220G>C (p.Glu1074Gln) n.5739G>C | |
| 1 | g.235774990C>T | CA344951305 | LYST | c.232G>A (p.Glu78Lys) c.*981G>A (n.*981G>A) c.153G>A c.5557G>A (p.Glu1853Lys) n.6108G>A c.3220G>A (p.Glu1074Lys) n.5739G>A | |
| 1 | g.235774991T>A | CA344951306 | LYST | c.231A>T (p.Leu77Phe) c.*980A>T (n.*980A>T) c.152A>T c.5556A>T (p.Leu1852Phe) n.6107A>T c.3219A>T (p.Leu1073Phe) n.5738A>T | |
| 1 | g.235774991T>C | CA423776696 | LYST | c.231A>G (p.Leu77=) c.*980A>G (n.*980A>G) c.152A>G c.5556A>G (p.Leu1852=) n.6107A>G c.3219A>G (p.Leu1073=) n.5738A>G | gnomAD v4 |
| 1 | g.235774991T>G | CA344951307 | LYST | c.231A>C (p.Leu77Phe) c.*980A>C (n.*980A>C) c.152A>C c.5556A>C (p.Leu1852Phe) n.6107A>C c.3219A>C (p.Leu1073Phe) n.5738A>C | |
| 1 | g.235774992A>C | CA344951321 | LYST | c.230T>G (p.Leu77Ter) c.*979T>G (n.*979T>G) c.151T>G c.5555T>G (p.Leu1852Ter) n.6106T>G c.3218T>G (p.Leu1073Ter) n.5737T>G | |
| 1 | g.235774992A>G | CA344951329 | LYST | c.230T>C (p.Leu77Ser) c.*979T>C (n.*979T>C) c.151T>C c.5555T>C (p.Leu1852Ser) n.6106T>C c.3218T>C (p.Leu1073Ser) n.5737T>C | gnomAD v4 |
| 1 | g.235774992A>T | CA344951327 | LYST | c.230T>A (p.Leu77Ter) c.*979T>A (n.*979T>A) c.151T>A c.5555T>A (p.Leu1852Ter) n.6106T>A c.3218T>A (p.Leu1073Ter) n.5737T>A | |
| 1 | g.235774993A>C | CA344951334 | LYST | c.229T>G (p.Leu77Val) c.*978T>G (n.*978T>G) c.150T>G c.5554T>G (p.Leu1852Val) n.6105T>G c.3217T>G (p.Leu1073Val) n.5736T>G | |
| 1 | g.235774993A>G | CA423776697 | LYST | c.229T>C (p.Leu77=) c.*978T>C (n.*978T>C) c.150T>C c.5554T>C (p.Leu1852=) n.6105T>C c.3217T>C (p.Leu1073=) n.5736T>C | |
| 1 | g.235774993A>T | CA344951337 | LYST | c.229T>A (p.Leu77Ile) c.*978T>A (n.*978T>A) c.150T>A c.5554T>A (p.Leu1852Ile) n.6105T>A c.3217T>A (p.Leu1073Ile) n.5736T>A | |
| 1 | g.235774994T>A | CA344951345 | LYST | c.228A>T (p.Glu76Asp) c.*977A>T (n.*977A>T) c.149A>T c.5553A>T (p.Glu1851Asp) n.6104A>T c.3216A>T (p.Glu1072Asp) n.5735A>T | |
| 1 | g.235774994T>C | CA423776698 | LYST | c.228A>G (p.Glu76=) c.*977A>G (n.*977A>G) c.149A>G c.5553A>G (p.Glu1851=) n.6104A>G c.3216A>G (p.Glu1072=) n.5735A>G | |
| 1 | g.235774994T>G | CA344951346 | LYST | c.228A>C (p.Glu76Asp) c.*977A>C (n.*977A>C) c.149A>C c.5553A>C (p.Glu1851Asp) n.6104A>C c.3216A>C (p.Glu1072Asp) n.5735A>C | |
| 1 | g.235774995T>A | CA344951351 | LYST | c.227A>T (p.Glu76Val) c.*976A>T (n.*976A>T) c.148A>T c.5552A>T (p.Glu1851Val) n.6103A>T c.3215A>T (p.Glu1072Val) n.5734A>T | |
| 1 | g.235774995T>C | CA344951356 | LYST | c.227A>G (p.Glu76Gly) c.*976A>G (n.*976A>G) c.148A>G c.5552A>G (p.Glu1851Gly) n.6103A>G c.3215A>G (p.Glu1072Gly) n.5734A>G | |
| 1 | g.235774995T>G | CA344951354 | LYST | c.227A>C (p.Glu76Ala) c.*976A>C (n.*976A>C) c.148A>C c.5552A>C (p.Glu1851Ala) n.6103A>C c.3215A>C (p.Glu1072Ala) n.5734A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235774995T= | CA2486638277 | LYST | c.227A= (p.Glu76=) c.*976A= (n.*976A=) c.148A= c.5552A= (p.Glu1851=) n.6103A= c.3215A= (p.Glu1072=) n.5734A= | |
| 1 | g.235774996C>A | CA344951357 | LYST | c.226G>T (p.Glu76Ter) c.*975G>T (n.*975G>T) c.147G>T c.5551G>T (p.Glu1851Ter) n.6102G>T c.3214G>T (p.Glu1072Ter) n.5733G>T | |
| 1 | g.235774996C>G | CA344951360 | LYST | c.226G>C (p.Glu76Gln) c.*975G>C (n.*975G>C) c.147G>C c.5551G>C (p.Glu1851Gln) n.6102G>C c.3214G>C (p.Glu1072Gln) n.5733G>C | |
| 1 | g.235774996C>T | CA344951363 | LYST | c.226G>A (p.Glu76Lys) c.*975G>A (n.*975G>A) c.147G>A c.5551G>A (p.Glu1851Lys) n.6102G>A c.3214G>A (p.Glu1072Lys) n.5733G>A | |
| 1 | g.235774997A= | CA2486638278 | LYST | c.225T= (p.His75=) c.*974T= (n.*974T=) c.146T= c.5550T= (p.His1850=) n.6101T= c.3213T= (p.His1071=) n.5732T= | |
| 1 | g.235774997A>C | CA344951365 | LYST | c.225T>G (p.His75Gln) c.*974T>G (n.*974T>G) c.146T>G c.5550T>G (p.His1850Gln) n.6101T>G c.3213T>G (p.His1071Gln) n.5732T>G | |
| 1 | g.235774997A>G | CA423776699 | LYST | c.225T>C (p.His75=) c.*974T>C (n.*974T>C) c.146T>C c.5550T>C (p.His1850=) n.6101T>C c.3213T>C (p.His1071=) n.5732T>C | dbSNP gnomAD v4 |
| 1 | g.235774997A>T | CA344951369 | LYST | c.225T>A (p.His75Gln) c.*974T>A (n.*974T>A) c.146T>A c.5550T>A (p.His1850Gln) n.6101T>A c.3213T>A (p.His1071Gln) n.5732T>A | |
| 1 | g.235774998T>A | CA1466599 | LYST | c.224A>T (p.His75Leu) c.*973A>T (n.*973A>T) c.145A>T c.5549A>T (p.His1850Leu) n.6100A>T c.3212A>T (p.His1071Leu) n.5731A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235774998T>C | CA1466598 | LYST | c.224A>G (p.His75Arg) c.*973A>G (n.*973A>G) c.145A>G c.5549A>G (p.His1850Arg) n.6100A>G c.3212A>G (p.His1071Arg) n.5731A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235774998T>G | CA344951385 | LYST | c.224A>C (p.His75Pro) c.*973A>C (n.*973A>C) c.145A>C c.5549A>C (p.His1850Pro) n.6100A>C c.3212A>C (p.His1071Pro) n.5731A>C | |
| 1 | g.235774998T= | CA1142749246 | LYST | c.224A= (p.His75=) c.*973A= (n.*973A=) c.145A= c.5549A= (p.His1850=) n.6100A= c.3212A= (p.His1071=) n.5731A= | |
| 1 | g.235774999G>A | CA344951389 | LYST | c.223C>T (p.His75Tyr) c.*972C>T (n.*972C>T) c.144C>T c.5548C>T (p.His1850Tyr) n.6099C>T c.3211C>T (p.His1071Tyr) n.5730C>T | |
| 1 | g.235774999G>C | CA344951392 | LYST | c.223C>G (p.His75Asp) c.*972C>G (n.*972C>G) c.144C>G c.5548C>G (p.His1850Asp) n.6099C>G c.3211C>G (p.His1071Asp) n.5730C>G | |
| 1 | g.235774999G>T | CA344951395 | LYST | c.223C>A (p.His75Asn) c.*972C>A (n.*972C>A) c.144C>A c.5548C>A (p.His1850Asn) n.6099C>A c.3211C>A (p.His1071Asn) n.5730C>A | gnomAD v4 |
| 1 | g.235775000T>A | CA423776700 | LYST | c.222A>T (p.Val74=) c.*971A>T (n.*971A>T) c.143A>T c.5547A>T (p.Val1849=) n.6098A>T c.3210A>T (p.Val1070=) n.5729A>T | |
| 1 | g.235775000T>C | CA1466600 | LYST | c.222A>G (p.Val74=) c.*971A>G (n.*971A>G) c.143A>G c.5547A>G (p.Val1849=) n.6098A>G c.3210A>G (p.Val1070=) n.5729A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235775000T>G | CA423776701 | LYST | c.222A>C (p.Val74=) c.*971A>C (n.*971A>C) c.143A>C c.5547A>C (p.Val1849=) n.6098A>C c.3210A>C (p.Val1070=) n.5729A>C | |
| 1 | g.235775000T= | CA2486638279 | LYST | c.222A= (p.Val74=) c.*971A= (n.*971A=) c.143A= c.5547A= (p.Val1849=) n.6098A= c.3210A= (p.Val1070=) n.5729A= | |
| 1 | g.235775001A>C | CA344951403 | LYST | c.221T>G (p.Val74Gly) c.*970T>G (n.*970T>G) c.142T>G c.5546T>G (p.Val1849Gly) n.6097T>G c.3209T>G (p.Val1070Gly) n.5728T>G | |
| 1 | g.235775001A>G | CA344951419 | LYST | c.221T>C (p.Val74Ala) c.*970T>C (n.*970T>C) c.142T>C c.5546T>C (p.Val1849Ala) n.6097T>C c.3209T>C (p.Val1070Ala) n.5728T>C | |
| 1 | g.235775001A>T | CA344951418 | LYST | c.221T>A (p.Val74Glu) c.*970T>A (n.*970T>A) c.142T>A c.5546T>A (p.Val1849Glu) n.6097T>A c.3209T>A (p.Val1070Glu) n.5728T>A | |
| 1 | g.235775002C>A | CA344951420 | LYST | c.220G>T (p.Val74Leu) c.*969G>T (n.*969G>T) c.141G>T c.5545G>T (p.Val1849Leu) n.6096G>T c.3208G>T (p.Val1070Leu) n.5727G>T | |
| 1 | g.235775002C= | CA1145660689 | LYST | c.220G= (p.Val74=) c.*969G= (n.*969G=) c.141G= c.5545G= (p.Val1849=) n.6096G= c.3208G= (p.Val1070=) n.5727G= | |
| 1 | g.235775002C>G | CA344951421 | LYST | c.220G>C (p.Val74Leu) c.*969G>C (n.*969G>C) c.141G>C c.5545G>C (p.Val1849Leu) n.6096G>C c.3208G>C (p.Val1070Leu) n.5727G>C | |
| 1 | g.235775002C>T | CA1466601 | LYST | c.220G>A (p.Val74Ile) c.*969G>A (n.*969G>A) c.141G>A c.5545G>A (p.Val1849Ile) n.6096G>A c.3208G>A (p.Val1070Ile) n.5727G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235775003T>A | CA344951425 | LYST | c.219A>T (p.Arg73Ser) c.*968A>T (n.*968A>T) c.140A>T c.5544A>T (p.Arg1848Ser) n.6095A>T c.3207A>T (p.Arg1069Ser) n.5726A>T | |
| 1 | g.235775003T>C | CA423776702 | LYST | c.219A>G (p.Arg73=) c.*968A>G (n.*968A>G) c.140A>G c.5544A>G (p.Arg1848=) n.6095A>G c.3207A>G (p.Arg1069=) n.5726A>G | ClinVar gnomAD v4 |
| 1 | g.235775003T>G | CA344951427 | LYST | c.219A>C (p.Arg73Ser) c.*968A>C (n.*968A>C) c.140A>C c.5544A>C (p.Arg1848Ser) n.6095A>C c.3207A>C (p.Arg1069Ser) n.5726A>C | |
| 1 | g.235775004C>A | CA344951440 | LYST | c.218G>T (p.Arg73Ile) c.*967G>T (n.*967G>T) c.139G>T c.5543G>T (p.Arg1848Ile) n.6094G>T c.3206G>T (p.Arg1069Ile) n.5725G>T | |
| 1 | g.235775004C= | CA2486638281 | LYST | c.218G= (p.Arg73=) c.*967G= (n.*967G=) c.139G= c.5543G= (p.Arg1848=) n.6094G= c.3206G= (p.Arg1069=) n.5725G= | |
| 1 | g.235775004C>G | CA344951437 | LYST | c.218G>C (p.Arg73Thr) c.*967G>C (n.*967G>C) c.139G>C c.5543G>C (p.Arg1848Thr) n.6094G>C c.3206G>C (p.Arg1069Thr) n.5725G>C | gnomAD v4 |
| 1 | g.235775004C>T | CA344951431 | LYST | c.218G>A (p.Arg73Lys) c.*967G>A (n.*967G>A) c.139G>A c.5543G>A (p.Arg1848Lys) n.6094G>A c.3206G>A (p.Arg1069Lys) n.5725G>A | dbSNP |
| 1 | g.235775004_235775006delinsCTT | CA2486638280 | LYST | c.216_218delinsAAG (p.Gln72=) c.*965_*967delinsAAG (n.*965_*967delinsAAG) c.137_139delinsAAG c.5541_5543delinsAAG (p.Gln1847=) n.6092_6094delinsAAG c.3204_3206delinsAAG (p.Gln1068=) n.5723_5725delinsAAG | |
| 1 | g.235775005T>A | CA344951444 | LYST | c.217A>T (p.Arg73Ter) c.*966A>T (n.*966A>T) c.138A>T c.5542A>T (p.Arg1848Ter) n.6093A>T c.3205A>T (p.Arg1069Ter) n.5724A>T | |
| 1 | g.235775005T>C | CA344951448 | LYST | c.217A>G (p.Arg73Gly) c.*966A>G (n.*966A>G) c.138A>G c.5542A>G (p.Arg1848Gly) n.6093A>G c.3205A>G (p.Arg1069Gly) n.5724A>G | |
| 1 | g.235775005T>G | CA423776703 | LYST | c.217A>C (p.Arg73=) c.*966A>C (n.*966A>C) c.138A>C c.5542A>C (p.Arg1848=) n.6093A>C c.3205A>C (p.Arg1069=) n.5724A>C | |
| 1 | g.235775006_235775007del | CA347101 | LYST | c.216_217del (p.Arg73SerfsTer3) c.*965_*966del (n.*965_*966del) c.137_138del c.5541_5542del (p.Arg1848SerfsTer3) n.6092_6093del c.3204_3205del (p.Arg1069SerfsTer3) n.5723_5724del | ClinVar dbSNP |
| 1 | g.235775006T>A | CA344951450 | LYST | c.216A>T (p.Gln72His) c.*965A>T (n.*965A>T) c.137A>T c.5541A>T (p.Gln1847His) n.6092A>T c.3204A>T (p.Gln1068His) n.5723A>T | |
| 1 | g.235775006T>C | CA1466602 | LYST | c.216A>G (p.Gln72=) c.*965A>G (n.*965A>G) c.137A>G c.5541A>G (p.Gln1847=) n.6092A>G c.3204A>G (p.Gln1068=) n.5723A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.235775006T>G | CA344951452 | LYST | c.216A>C (p.Gln72His) c.*965A>C (n.*965A>C) c.137A>C c.5541A>C (p.Gln1847His) n.6092A>C c.3204A>C (p.Gln1068His) n.5723A>C | |
| 1 | g.235775006T= | CA2486638282 | LYST | c.216A= (p.Gln72=) c.*965A= (n.*965A=) c.137A= c.5541A= (p.Gln1847=) n.6092A= c.3204A= (p.Gln1068=) n.5723A= | |
| 1 | g.235775007T>A | CA344951456 | LYST | c.215A>T (p.Gln72Leu) c.*964A>T (n.*964A>T) c.136A>T c.5540A>T (p.Gln1847Leu) n.6091A>T c.3203A>T (p.Gln1068Leu) n.5722A>T | |
| 1 | g.235775007T>C | CA344951460 | LYST | c.215A>G (p.Gln72Arg) c.*964A>G (n.*964A>G) c.136A>G c.5540A>G (p.Gln1847Arg) n.6091A>G c.3203A>G (p.Gln1068Arg) n.5722A>G | |
| 1 | g.235775007T>G | CA344951458 | LYST | c.215A>C (p.Gln72Pro) c.*964A>C (n.*964A>C) c.136A>C c.5540A>C (p.Gln1847Pro) n.6091A>C c.3203A>C (p.Gln1068Pro) n.5722A>C | |
| 1 | g.235775008G>A | CA344951462 | LYST | c.214C>T (p.Gln72Ter) c.*963C>T (n.*963C>T) c.135C>T c.5539C>T (p.Gln1847Ter) n.6090C>T c.3202C>T (p.Gln1068Ter) n.5721C>T | dbSNP |
| 1 | g.235775008G>C | CA344951464 | LYST | c.214C>G (p.Gln72Glu) c.*963C>G (n.*963C>G) c.135C>G c.5539C>G (p.Gln1847Glu) n.6090C>G c.3202C>G (p.Gln1068Glu) n.5721C>G | gnomAD v4 |
| 1 | g.235775008G= | CA2486638283 | LYST | c.214C= (p.Gln72=) c.*963C= (n.*963C=) c.135C= c.5539C= (p.Gln1847=) n.6090C= c.3202C= (p.Gln1068=) n.5721C= | |
| 1 | g.235775008G>T | CA344951466 | LYST | c.214C>A (p.Gln72Lys) c.*963C>A (n.*963C>A) c.135C>A c.5539C>A (p.Gln1847Lys) n.6090C>A c.3202C>A (p.Gln1068Lys) n.5721C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.235775009T>A | CA1466603 | LYST | c.213A>T (p.Gln71His) c.*962A>T (n.*962A>T) c.134A>T c.5538A>T (p.Gln1846His) n.6089A>T c.3201A>T (p.Gln1067His) n.5720A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.235775009T>C | CA423776704 | LYST | c.213A>G (p.Gln71=) c.*962A>G (n.*962A>G) c.134A>G c.5538A>G (p.Gln1846=) n.6089A>G c.3201A>G (p.Gln1067=) n.5720A>G | gnomAD v4 |
| 1 | g.235775009T>G | CA344951470 | LYST | c.213A>C (p.Gln71His) c.*962A>C (n.*962A>C) c.134A>C c.5538A>C (p.Gln1846His) n.6089A>C c.3201A>C (p.Gln1067His) n.5720A>C | |
| 1 | g.235775009T= | CA1147083546 | LYST | c.213A= (p.Gln71=) c.*962A= (n.*962A=) c.134A= c.5538A= (p.Gln1846=) n.6089A= c.3201A= (p.Gln1067=) n.5720A= |