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.150750123T>A | CA342327437 | CTSS | c.676A>T (p.Lys226Ter) c.448A>T (p.Lys150Ter) c.403A>T (p.Lys135Ter) c.526A>T (p.Lys176Ter) c.627+1658A>T (n.627+1658A>T) c.499A>T (p.Lys167Ter) n.566+1658A>T c.103A>T (p.Lys35Ter) | |
| 1 | g.150750123T>C | CA342327441 | CTSS | c.676A>G (p.Lys226Glu) c.448A>G (p.Lys150Glu) c.403A>G (p.Lys135Glu) c.526A>G (p.Lys176Glu) c.627+1658A>G (n.627+1658A>G) c.499A>G (p.Lys167Glu) n.566+1658A>G c.103A>G (p.Lys35Glu) | |
| 1 | g.150750123T>G | CA342327452 | CTSS | c.676A>C (p.Lys226Gln) c.448A>C (p.Lys150Gln) c.403A>C (p.Lys135Gln) c.526A>C (p.Lys176Gln) c.627+1658A>C (n.627+1658A>C) c.499A>C (p.Lys167Gln) n.566+1658A>C c.103A>C (p.Lys35Gln) | |
| 1 | g.150750124T>A | CA420697852 | CTSS | c.675A>T (p.Ser225=) c.447A>T (p.Ser149=) c.402A>T (p.Ser134=) c.525A>T (p.Ser175=) c.627+1657A>T (n.627+1657A>T) c.498A>T (p.Ser166=) n.566+1657A>T c.102A>T (p.Ser34=) | |
| 1 | g.150750124T>C | CA420697853 | CTSS | c.675A>G (p.Ser225=) c.447A>G (p.Ser149=) c.402A>G (p.Ser134=) c.525A>G (p.Ser175=) c.627+1657A>G (n.627+1657A>G) c.498A>G (p.Ser166=) n.566+1657A>G c.102A>G (p.Ser34=) | |
| 1 | g.150750124T>G | CA420697851 | CTSS | c.675A>C (p.Ser225=) c.447A>C (p.Ser149=) c.402A>C (p.Ser134=) c.525A>C (p.Ser175=) c.627+1657A>C (n.627+1657A>C) c.498A>C (p.Ser166=) n.566+1657A>C c.102A>C (p.Ser34=) | COSMIC |
| 1 | g.150750125G>A | CA342327455 | CTSS | c.674C>T (p.Ser225Leu) c.446C>T (p.Ser149Leu) c.401C>T (p.Ser134Leu) c.524C>T (p.Ser175Leu) c.627+1656C>T (n.627+1656C>T) c.497C>T (p.Ser166Leu) n.566+1656C>T c.101C>T (p.Ser34Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750125G>C | CA342327462 | CTSS | c.674C>G (p.Ser225Ter) c.446C>G (p.Ser149Ter) c.401C>G (p.Ser134Ter) c.524C>G (p.Ser175Ter) c.627+1656C>G (n.627+1656C>G) c.497C>G (p.Ser166Ter) n.566+1656C>G c.101C>G (p.Ser34Ter) | gnomAD v4 |
| 1 | g.150750125G= | CA2479293044 | CTSS | c.674C= (p.Ser225=) c.446C= (p.Ser149=) c.401C= (p.Ser134=) c.524C= (p.Ser175=) c.627+1656C= (n.627+1656C=) c.497C= (p.Ser166=) n.566+1656C= c.101C= (p.Ser34=) | |
| 1 | g.150750125G>T | CA342327460 | CTSS | c.674C>A (p.Ser225Ter) c.446C>A (p.Ser149Ter) c.401C>A (p.Ser134Ter) c.524C>A (p.Ser175Ter) c.627+1656C>A (n.627+1656C>A) c.497C>A (p.Ser166Ter) n.566+1656C>A c.101C>A (p.Ser34Ter) | |
| 1 | g.150750126A>C | CA342327464 | CTSS | c.673T>G (p.Ser225Ala) c.445T>G (p.Ser149Ala) c.400T>G (p.Ser134Ala) c.523T>G (p.Ser175Ala) c.627+1655T>G (n.627+1655T>G) c.496T>G (p.Ser166Ala) n.566+1655T>G c.100T>G (p.Ser34Ala) | |
| 1 | g.150750126A>G | CA342327466 | CTSS | c.673T>C (p.Ser225Pro) c.445T>C (p.Ser149Pro) c.400T>C (p.Ser134Pro) c.523T>C (p.Ser175Pro) c.627+1655T>C (n.627+1655T>C) c.496T>C (p.Ser166Pro) n.566+1655T>C c.100T>C (p.Ser34Pro) | |
| 1 | g.150750126A>T | CA342327467 | CTSS | c.673T>A (p.Ser225Thr) c.445T>A (p.Ser149Thr) c.400T>A (p.Ser134Thr) c.523T>A (p.Ser175Thr) c.627+1655T>A (n.627+1655T>A) c.496T>A (p.Ser166Thr) n.566+1655T>A c.100T>A (p.Ser34Thr) | gnomAD v4 |
| 1 | g.150750127A= | CA2479293045 | CTSS | c.672T= (p.Cys224=) c.444T= (p.Cys148=) c.399T= (p.Cys133=) c.522T= (p.Cys174=) c.627+1654T= (n.627+1654T=) c.495T= (p.Cys165=) n.566+1654T= c.99T= (p.Cys33=) | |
| 1 | g.150750127A>C | CA342327470 | CTSS | c.672T>G (p.Cys224Trp) c.444T>G (p.Cys148Trp) c.399T>G (p.Cys133Trp) c.522T>G (p.Cys174Trp) c.627+1654T>G (n.627+1654T>G) c.495T>G (p.Cys165Trp) n.566+1654T>G c.99T>G (p.Cys33Trp) | |
| 1 | g.150750127A>G | CA420697854 | CTSS | c.672T>C (p.Cys224=) c.444T>C (p.Cys148=) c.399T>C (p.Cys133=) c.522T>C (p.Cys174=) c.627+1654T>C (n.627+1654T>C) c.495T>C (p.Cys165=) n.566+1654T>C c.99T>C (p.Cys33=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750127A>T | CA342327472 | CTSS | c.672T>A (p.Cys224Ter) c.444T>A (p.Cys148Ter) c.399T>A (p.Cys133Ter) c.522T>A (p.Cys174Ter) c.627+1654T>A (n.627+1654T>A) c.495T>A (p.Cys165Ter) n.566+1654T>A c.99T>A (p.Cys33Ter) | |
| 1 | g.150750128C>A | CA342327475 | CTSS | c.671G>T (p.Cys224Phe) c.443G>T (p.Cys148Phe) c.398G>T (p.Cys133Phe) c.521G>T (p.Cys174Phe) c.627+1653G>T (n.627+1653G>T) c.494G>T (p.Cys165Phe) n.566+1653G>T c.98G>T (p.Cys33Phe) | |
| 1 | g.150750128C>G | CA342327476 | CTSS | c.671G>C (p.Cys224Ser) c.443G>C (p.Cys148Ser) c.398G>C (p.Cys133Ser) c.521G>C (p.Cys174Ser) c.627+1653G>C (n.627+1653G>C) c.494G>C (p.Cys165Ser) n.566+1653G>C c.98G>C (p.Cys33Ser) | |
| 1 | g.150750128C>T | CA342327477 | CTSS | c.671G>A (p.Cys224Tyr) c.443G>A (p.Cys148Tyr) c.398G>A (p.Cys133Tyr) c.521G>A (p.Cys174Tyr) c.627+1653G>A (n.627+1653G>A) c.494G>A (p.Cys165Tyr) n.566+1653G>A c.98G>A (p.Cys33Tyr) | |
| 1 | g.150750129A>C | CA342327480 | CTSS | c.670T>G (p.Cys224Gly) c.442T>G (p.Cys148Gly) c.397T>G (p.Cys133Gly) c.520T>G (p.Cys174Gly) c.627+1652T>G (n.627+1652T>G) c.493T>G (p.Cys165Gly) n.566+1652T>G c.97T>G (p.Cys33Gly) | |
| 1 | g.150750129A>G | CA342327481 | CTSS | c.670T>C (p.Cys224Arg) c.442T>C (p.Cys148Arg) c.397T>C (p.Cys133Arg) c.520T>C (p.Cys174Arg) c.627+1652T>C (n.627+1652T>C) c.493T>C (p.Cys165Arg) n.566+1652T>C c.97T>C (p.Cys33Arg) | |
| 1 | g.150750129A>T | CA342327484 | CTSS | c.670T>A (p.Cys224Ser) c.442T>A (p.Cys148Ser) c.397T>A (p.Cys133Ser) c.520T>A (p.Cys174Ser) c.627+1652T>A (n.627+1652T>A) c.493T>A (p.Cys165Ser) n.566+1652T>A c.97T>A (p.Cys33Ser) | |
| 1 | g.150750130T>A | CA420697855 | CTSS | c.669A>T (p.Thr223=) c.441A>T (p.Thr147=) c.396A>T (p.Thr132=) c.519A>T (p.Thr173=) c.627+1651A>T (n.627+1651A>T) c.492A>T (p.Thr164=) n.566+1651A>T c.96A>T (p.Thr32=) | |
| 1 | g.150750130T>C | CA420697857 | CTSS | c.669A>G (p.Thr223=) c.441A>G (p.Thr147=) c.396A>G (p.Thr132=) c.519A>G (p.Thr173=) c.627+1651A>G (n.627+1651A>G) c.492A>G (p.Thr164=) n.566+1651A>G c.96A>G (p.Thr32=) | gnomAD v4 |
| 1 | g.150750130T>G | CA420697856 | CTSS | c.669A>C (p.Thr223=) c.441A>C (p.Thr147=) c.396A>C (p.Thr132=) c.519A>C (p.Thr173=) c.627+1651A>C (n.627+1651A>C) c.492A>C (p.Thr164=) n.566+1651A>C c.96A>C (p.Thr32=) | |
| 1 | g.150750131G>A | CA342327493 | CTSS | c.668C>T (p.Thr223Ile) c.440C>T (p.Thr147Ile) c.395C>T (p.Thr132Ile) c.518C>T (p.Thr173Ile) c.627+1650C>T (n.627+1650C>T) c.491C>T (p.Thr164Ile) n.566+1650C>T c.95C>T (p.Thr32Ile) | gnomAD v4 |
| 1 | g.150750131G>C | CA342327491 | CTSS | c.668C>G (p.Thr223Arg) c.440C>G (p.Thr147Arg) c.395C>G (p.Thr132Arg) c.518C>G (p.Thr173Arg) c.627+1650C>G (n.627+1650C>G) c.491C>G (p.Thr164Arg) n.566+1650C>G c.95C>G (p.Thr32Arg) | |
| 1 | g.150750131G>T | CA342327488 | CTSS | c.668C>A (p.Thr223Lys) c.440C>A (p.Thr147Lys) c.395C>A (p.Thr132Lys) c.518C>A (p.Thr173Lys) c.627+1650C>A (n.627+1650C>A) c.491C>A (p.Thr164Lys) n.566+1650C>A c.95C>A (p.Thr32Lys) | |
| 1 | g.150750132del | CA2573896553 | CTSS | c.667del (p.Thr223HisfsTer16) c.439del (p.Thr147HisfsTer16) c.394del (p.Thr132HisfsTer16) c.517del (p.Thr173HisfsTer16) c.627+1649del (n.627+1649del) c.490del (p.Thr164HisfsTer16) n.566+1649del c.94del (p.Thr32HisfsTer16) | |
| 1 | g.150750132T>A | CA342327497 | CTSS | c.667A>T (p.Thr223Ser) c.439A>T (p.Thr147Ser) c.394A>T (p.Thr132Ser) c.517A>T (p.Thr173Ser) c.627+1649A>T (n.627+1649A>T) c.490A>T (p.Thr164Ser) n.566+1649A>T c.94A>T (p.Thr32Ser) | |
| 1 | g.150750132T>C | CA342327499 | CTSS | c.667A>G (p.Thr223Ala) c.439A>G (p.Thr147Ala) c.394A>G (p.Thr132Ala) c.517A>G (p.Thr173Ala) c.627+1649A>G (n.627+1649A>G) c.490A>G (p.Thr164Ala) n.566+1649A>G c.94A>G (p.Thr32Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750132T>G | CA342327502 | CTSS | c.667A>C (p.Thr223Pro) c.439A>C (p.Thr147Pro) c.394A>C (p.Thr132Pro) c.517A>C (p.Thr173Pro) c.627+1649A>C (n.627+1649A>C) c.490A>C (p.Thr164Pro) n.566+1649A>C c.94A>C (p.Thr32Pro) | |
| 1 | g.150750132T= | CA2479293046 | CTSS | c.667A= (p.Thr223=) c.439A= (p.Thr147=) c.394A= (p.Thr132=) c.517A= (p.Thr173=) c.627+1649A= (n.627+1649A=) c.490A= (p.Thr164=) n.566+1649A= c.94A= (p.Thr32=) | |
| 1 | g.150750133G>A | CA420697859 | CTSS | c.666C>T (p.Ala222=) c.438C>T (p.Ala146=) c.393C>T (p.Ala131=) c.516C>T (p.Ala172=) c.627+1648C>T (n.627+1648C>T) c.489C>T (p.Ala163=) n.566+1648C>T c.93C>T (p.Ala31=) | |
| 1 | g.150750133G>C | CA420697860 | CTSS | c.666C>G (p.Ala222=) c.438C>G (p.Ala146=) c.393C>G (p.Ala131=) c.516C>G (p.Ala172=) c.627+1648C>G (n.627+1648C>G) c.489C>G (p.Ala163=) n.566+1648C>G c.93C>G (p.Ala31=) | |
| 1 | g.150750133G>T | CA420697861 | CTSS | c.666C>A (p.Ala222=) c.438C>A (p.Ala146=) c.393C>A (p.Ala131=) c.516C>A (p.Ala172=) c.627+1648C>A (n.627+1648C>A) c.489C>A (p.Ala163=) n.566+1648C>A c.93C>A (p.Ala31=) | |
| 1 | g.150750134G>A | CA342327506 | CTSS | c.665C>T (p.Ala222Val) c.437C>T (p.Ala146Val) c.392C>T (p.Ala131Val) c.515C>T (p.Ala172Val) c.627+1647C>T (n.627+1647C>T) c.488C>T (p.Ala163Val) n.566+1647C>T c.92C>T (p.Ala31Val) | |
| 1 | g.150750134G>C | CA342327508 | CTSS | c.665C>G (p.Ala222Gly) c.437C>G (p.Ala146Gly) c.392C>G (p.Ala131Gly) c.515C>G (p.Ala172Gly) c.627+1647C>G (n.627+1647C>G) c.488C>G (p.Ala163Gly) n.566+1647C>G c.92C>G (p.Ala31Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750134G= | CA2479293047 | CTSS | c.665C= (p.Ala222=) c.437C= (p.Ala146=) c.392C= (p.Ala131=) c.515C= (p.Ala172=) c.627+1647C= (n.627+1647C=) c.488C= (p.Ala163=) n.566+1647C= c.92C= (p.Ala31=) | |
| 1 | g.150750134G>T | CA342327509 | CTSS | c.665C>A (p.Ala222Asp) c.437C>A (p.Ala146Asp) c.392C>A (p.Ala131Asp) c.515C>A (p.Ala172Asp) c.627+1647C>A (n.627+1647C>A) c.488C>A (p.Ala163Asp) n.566+1647C>A c.92C>A (p.Ala31Asp) | |
| 1 | g.150750135C>A | CA342327511 | CTSS | c.664G>T (p.Ala222Ser) c.436G>T (p.Ala146Ser) c.391G>T (p.Ala131Ser) c.514G>T (p.Ala172Ser) c.627+1646G>T (n.627+1646G>T) c.487G>T (p.Ala163Ser) n.566+1646G>T c.91G>T (p.Ala31Ser) | gnomAD v4 |
| 1 | g.150750135C>G | CA342327512 | CTSS | c.664G>C (p.Ala222Pro) c.436G>C (p.Ala146Pro) c.391G>C (p.Ala131Pro) c.514G>C (p.Ala172Pro) c.627+1646G>C (n.627+1646G>C) c.487G>C (p.Ala163Pro) n.566+1646G>C c.91G>C (p.Ala31Pro) | |
| 1 | g.150750135C>T | CA342327515 | CTSS | c.664G>A (p.Ala222Thr) c.436G>A (p.Ala146Thr) c.391G>A (p.Ala131Thr) c.514G>A (p.Ala172Thr) c.627+1646G>A (n.627+1646G>A) c.487G>A (p.Ala163Thr) n.566+1646G>A c.91G>A (p.Ala31Thr) | dbSNP gnomAD v4 |
| 1 | g.150750136A>C | CA420697864 | CTSS | c.663T>G (p.Ala221=) c.435T>G (p.Ala145=) c.390T>G (p.Ala130=) c.513T>G (p.Ala171=) c.627+1645T>G (n.627+1645T>G) c.486T>G (p.Ala162=) n.566+1645T>G c.90T>G (p.Ala30=) | |
| 1 | g.150750136A>G | CA420697865 | CTSS | c.663T>C (p.Ala221=) c.435T>C (p.Ala145=) c.390T>C (p.Ala130=) c.513T>C (p.Ala171=) c.627+1645T>C (n.627+1645T>C) c.486T>C (p.Ala162=) n.566+1645T>C c.90T>C (p.Ala30=) | |
| 1 | g.150750136A>T | CA420697866 | CTSS | c.663T>A (p.Ala221=) c.435T>A (p.Ala145=) c.390T>A (p.Ala130=) c.513T>A (p.Ala171=) c.627+1645T>A (n.627+1645T>A) c.486T>A (p.Ala162=) n.566+1645T>A c.90T>A (p.Ala30=) | |
| 1 | g.150750137G>A | CA342327519 | CTSS | c.662C>T (p.Ala221Val) c.434C>T (p.Ala145Val) c.389C>T (p.Ala130Val) c.512C>T (p.Ala171Val) c.627+1644C>T (n.627+1644C>T) c.485C>T (p.Ala162Val) n.566+1644C>T c.89C>T (p.Ala30Val) | |
| 1 | g.150750137G>C | CA342327520 | CTSS | c.662C>G (p.Ala221Gly) c.434C>G (p.Ala145Gly) c.389C>G (p.Ala130Gly) c.512C>G (p.Ala171Gly) c.627+1644C>G (n.627+1644C>G) c.485C>G (p.Ala162Gly) n.566+1644C>G c.89C>G (p.Ala30Gly) | |
| 1 | g.150750137G>T | CA342327523 | CTSS | c.662C>A (p.Ala221Asp) c.434C>A (p.Ala145Asp) c.389C>A (p.Ala130Asp) c.512C>A (p.Ala171Asp) c.627+1644C>A (n.627+1644C>A) c.485C>A (p.Ala162Asp) n.566+1644C>A c.89C>A (p.Ala30Asp) | |
| 1 | g.150750138C>A | CA342327533 | CTSS | c.661G>T (p.Ala221Ser) c.433G>T (p.Ala145Ser) c.388G>T (p.Ala130Ser) c.511G>T (p.Ala171Ser) c.627+1643G>T (n.627+1643G>T) c.484G>T (p.Ala162Ser) n.566+1643G>T c.88G>T (p.Ala30Ser) | |
| 1 | g.150750138C>G | CA342327529 | CTSS | c.661G>C (p.Ala221Pro) c.433G>C (p.Ala145Pro) c.388G>C (p.Ala130Pro) c.511G>C (p.Ala171Pro) c.627+1643G>C (n.627+1643G>C) c.484G>C (p.Ala162Pro) n.566+1643G>C c.88G>C (p.Ala30Pro) | |
| 1 | g.150750138C>T | CA342327527 | CTSS | c.661G>A (p.Ala221Thr) c.433G>A (p.Ala145Thr) c.388G>A (p.Ala130Thr) c.511G>A (p.Ala171Thr) c.627+1643G>A (n.627+1643G>A) c.484G>A (p.Ala162Thr) n.566+1643G>A c.88G>A (p.Ala30Thr) | |
| 1 | g.150750139del | CA2647833096 | CTSS | c.660del (p.Ala221LeufsTer18) c.432del (p.Ala145LeufsTer18) c.387del (p.Ala130LeufsTer18) c.510del (p.Ala171LeufsTer18) c.627+1642del (n.627+1642del) c.483del (p.Ala162LeufsTer18) n.566+1642del c.87del (p.Ala30LeufsTer18) | gnomAD v4 |
| 1 | g.150750139A>C | CA420697873 | CTSS | c.660T>G (p.Arg220=) c.432T>G (p.Arg144=) c.387T>G (p.Arg129=) c.510T>G (p.Arg170=) c.627+1642T>G (n.627+1642T>G) c.483T>G (p.Arg161=) n.566+1642T>G c.87T>G (p.Arg29=) | |
| 1 | g.150750139A>G | CA420697872 | CTSS | c.660T>C (p.Arg220=) c.432T>C (p.Arg144=) c.387T>C (p.Arg129=) c.510T>C (p.Arg170=) c.627+1642T>C (n.627+1642T>C) c.483T>C (p.Arg161=) n.566+1642T>C c.87T>C (p.Arg29=) | gnomAD v4 |
| 1 | g.150750139A>T | CA420697870 | CTSS | c.660T>A (p.Arg220=) c.432T>A (p.Arg144=) c.387T>A (p.Arg129=) c.510T>A (p.Arg170=) c.627+1642T>A (n.627+1642T>A) c.483T>A (p.Arg161=) n.566+1642T>A c.87T>A (p.Arg29=) | |
| 1 | g.150750140C>A | CA342327536 | CTSS | c.659G>T (p.Arg220Leu) c.431G>T (p.Arg144Leu) c.386G>T (p.Arg129Leu) c.509G>T (p.Arg170Leu) c.627+1641G>T (n.627+1641G>T) c.482G>T (p.Arg161Leu) n.566+1641G>T c.86G>T (p.Arg29Leu) | |
| 1 | g.150750140C= | CA2479293048 | CTSS | c.659G= (p.Arg220=) c.431G= (p.Arg144=) c.386G= (p.Arg129=) c.509G= (p.Arg170=) c.627+1641G= (n.627+1641G=) c.482G= (p.Arg161=) n.566+1641G= c.86G= (p.Arg29=) | |
| 1 | g.150750140C>G | CA342327538 | CTSS | c.659G>C (p.Arg220Pro) c.431G>C (p.Arg144Pro) c.386G>C (p.Arg129Pro) c.509G>C (p.Arg170Pro) c.627+1641G>C (n.627+1641G>C) c.482G>C (p.Arg161Pro) n.566+1641G>C c.86G>C (p.Arg29Pro) | |
| 1 | g.150750140C>T | CA1080229 | CTSS | c.659G>A (p.Arg220His) c.431G>A (p.Arg144His) c.386G>A (p.Arg129His) c.509G>A (p.Arg170His) c.627+1641G>A (n.627+1641G>A) c.482G>A (p.Arg161His) n.566+1641G>A c.86G>A (p.Arg29His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750141G>A | CA1080230 | CTSS | c.658C>T (p.Arg220Cys) c.430C>T (p.Arg144Cys) c.385C>T (p.Arg129Cys) c.508C>T (p.Arg170Cys) c.627+1640C>T (n.627+1640C>T) c.481C>T (p.Arg161Cys) n.566+1640C>T c.85C>T (p.Arg29Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.150750141G>C | CA342327549 | CTSS | c.658C>G (p.Arg220Gly) c.430C>G (p.Arg144Gly) c.385C>G (p.Arg129Gly) c.508C>G (p.Arg170Gly) c.627+1640C>G (n.627+1640C>G) c.481C>G (p.Arg161Gly) n.566+1640C>G c.85C>G (p.Arg29Gly) | |
| 1 | g.150750141G= | CA2479293049 | CTSS | c.658C= (p.Arg220=) c.430C= (p.Arg144=) c.385C= (p.Arg129=) c.508C= (p.Arg170=) c.627+1640C= (n.627+1640C=) c.481C= (p.Arg161=) n.566+1640C= c.85C= (p.Arg29=) | |
| 1 | g.150750141G>T | CA342327552 | CTSS | c.658C>A (p.Arg220Ser) c.430C>A (p.Arg144Ser) c.385C>A (p.Arg129Ser) c.508C>A (p.Arg170Ser) c.627+1640C>A (n.627+1640C>A) c.481C>A (p.Arg161Ser) n.566+1640C>A c.85C>A (p.Arg29Ser) | |
| 1 | g.150750141_150750143del | CA2647833100 | CTSS | c.656_658del (p.Tyr219_Arg220delinsCys) c.428_430del (p.Tyr143_Arg144delinsCys) c.383_385del (p.Tyr128_Arg129delinsCys) c.506_508del (p.Tyr169_Arg170delinsCys) c.627+1638_627+1640del (n.627+1638_627+1640del) c.479_481del (p.Tyr160_Arg161delinsCys) n.566+1638_566+1640del c.83_85del (p.Tyr28_Arg29delinsCys) | gnomAD v4 |
| 1 | g.150750142A>C | CA342327560 | CTSS | c.657T>G (p.Tyr219Ter) c.429T>G (p.Tyr143Ter) c.384T>G (p.Tyr128Ter) c.507T>G (p.Tyr169Ter) c.627+1639T>G (n.627+1639T>G) c.480T>G (p.Tyr160Ter) n.566+1639T>G c.84T>G (p.Tyr28Ter) | |
| 1 | g.150750142A>G | CA420697877 | CTSS | c.657T>C (p.Tyr219=) c.429T>C (p.Tyr143=) c.384T>C (p.Tyr128=) c.507T>C (p.Tyr169=) c.627+1639T>C (n.627+1639T>C) c.480T>C (p.Tyr160=) n.566+1639T>C c.84T>C (p.Tyr28=) | |
| 1 | g.150750142A>T | CA342327563 | CTSS | c.657T>A (p.Tyr219Ter) c.429T>A (p.Tyr143Ter) c.384T>A (p.Tyr128Ter) c.507T>A (p.Tyr169Ter) c.627+1639T>A (n.627+1639T>A) c.480T>A (p.Tyr160Ter) n.566+1639T>A c.84T>A (p.Tyr28Ter) | |
| 1 | g.150750143T>A | CA342327567 | CTSS | c.656A>T (p.Tyr219Phe) c.428A>T (p.Tyr143Phe) c.383A>T (p.Tyr128Phe) c.506A>T (p.Tyr169Phe) c.627+1638A>T (n.627+1638A>T) c.479A>T (p.Tyr160Phe) n.566+1638A>T c.83A>T (p.Tyr28Phe) | |
| 1 | g.150750143T>C | CA342327569 | CTSS | c.656A>G (p.Tyr219Cys) c.428A>G (p.Tyr143Cys) c.383A>G (p.Tyr128Cys) c.506A>G (p.Tyr169Cys) c.627+1638A>G (n.627+1638A>G) c.479A>G (p.Tyr160Cys) n.566+1638A>G c.83A>G (p.Tyr28Cys) | |
| 1 | g.150750143T>G | CA342327570 | CTSS | c.656A>C (p.Tyr219Ser) c.428A>C (p.Tyr143Ser) c.383A>C (p.Tyr128Ser) c.506A>C (p.Tyr169Ser) c.627+1638A>C (n.627+1638A>C) c.479A>C (p.Tyr160Ser) n.566+1638A>C c.83A>C (p.Tyr28Ser) | |
| 1 | g.150750144A>C | CA342327575 | CTSS | c.655T>G (p.Tyr219Asp) c.427T>G (p.Tyr143Asp) c.382T>G (p.Tyr128Asp) c.505T>G (p.Tyr169Asp) c.627+1637T>G (n.627+1637T>G) c.478T>G (p.Tyr160Asp) n.566+1637T>G c.82T>G (p.Tyr28Asp) | |
| 1 | g.150750144A>G | CA342327579 | CTSS | c.655T>C (p.Tyr219His) c.427T>C (p.Tyr143His) c.382T>C (p.Tyr128His) c.505T>C (p.Tyr169His) c.627+1637T>C (n.627+1637T>C) c.478T>C (p.Tyr160His) n.566+1637T>C c.82T>C (p.Tyr28His) | |
| 1 | g.150750144A>T | CA342327581 | CTSS | c.655T>A (p.Tyr219Asn) c.427T>A (p.Tyr143Asn) c.382T>A (p.Tyr128Asn) c.505T>A (p.Tyr169Asn) c.627+1637T>A (n.627+1637T>A) c.478T>A (p.Tyr160Asn) n.566+1637T>A c.82T>A (p.Tyr28Asn) | |
| 1 | g.150750145T>A | CA342327593 | CTSS | c.654A>T (p.Lys218Asn) c.426A>T (p.Lys142Asn) c.381A>T (p.Lys127Asn) c.504A>T (p.Lys168Asn) c.627+1636A>T (n.627+1636A>T) c.477A>T (p.Lys159Asn) n.566+1636A>T c.81A>T (p.Lys27Asn) | |
| 1 | g.150750145T>C | CA420697883 | CTSS | c.654A>G (p.Lys218=) c.426A>G (p.Lys142=) c.381A>G (p.Lys127=) c.504A>G (p.Lys168=) c.627+1636A>G (n.627+1636A>G) c.477A>G (p.Lys159=) n.566+1636A>G c.81A>G (p.Lys27=) | |
| 1 | g.150750145T>G | CA342327591 | CTSS | c.654A>C (p.Lys218Asn) c.426A>C (p.Lys142Asn) c.381A>C (p.Lys127Asn) c.504A>C (p.Lys168Asn) c.627+1636A>C (n.627+1636A>C) c.477A>C (p.Lys159Asn) n.566+1636A>C c.81A>C (p.Lys27Asn) | |
| 1 | g.150750146T>A | CA342327596 | CTSS | c.653A>T (p.Lys218Ile) c.425A>T (p.Lys142Ile) c.380A>T (p.Lys127Ile) c.503A>T (p.Lys168Ile) c.627+1635A>T (n.627+1635A>T) c.476A>T (p.Lys159Ile) n.566+1635A>T c.80A>T (p.Lys27Ile) | |
| 1 | g.150750146T>C | CA342327597 | CTSS | c.653A>G (p.Lys218Arg) c.425A>G (p.Lys142Arg) c.380A>G (p.Lys127Arg) c.503A>G (p.Lys168Arg) c.627+1635A>G (n.627+1635A>G) c.476A>G (p.Lys159Arg) n.566+1635A>G c.80A>G (p.Lys27Arg) | |
| 1 | g.150750146T>G | CA342327598 | CTSS | c.653A>C (p.Lys218Thr) c.425A>C (p.Lys142Thr) c.380A>C (p.Lys127Thr) c.503A>C (p.Lys168Thr) c.627+1635A>C (n.627+1635A>C) c.476A>C (p.Lys159Thr) n.566+1635A>C c.80A>C (p.Lys27Thr) | |
| 1 | g.150750147T>A | CA342327599 | CTSS | c.652A>T (p.Lys218Ter) c.424A>T (p.Lys142Ter) c.379A>T (p.Lys127Ter) c.502A>T (p.Lys168Ter) c.627+1634A>T (n.627+1634A>T) c.475A>T (p.Lys159Ter) n.566+1634A>T c.79A>T (p.Lys27Ter) | dbSNP |
| 1 | g.150750147T>C | CA342327600 | CTSS | c.652A>G (p.Lys218Glu) c.424A>G (p.Lys142Glu) c.379A>G (p.Lys127Glu) c.502A>G (p.Lys168Glu) c.627+1634A>G (n.627+1634A>G) c.475A>G (p.Lys159Glu) n.566+1634A>G c.79A>G (p.Lys27Glu) | |
| 1 | g.150750147T>G | CA342327602 | CTSS | c.652A>C (p.Lys218Gln) c.424A>C (p.Lys142Gln) c.379A>C (p.Lys127Gln) c.502A>C (p.Lys168Gln) c.627+1634A>C (n.627+1634A>C) c.475A>C (p.Lys159Gln) n.566+1634A>C c.79A>C (p.Lys27Gln) | |
| 1 | g.150750147T= | CA2479293050 | CTSS | c.652A= (p.Lys218=) c.424A= (p.Lys142=) c.379A= (p.Lys127=) c.502A= (p.Lys168=) c.627+1634A= (n.627+1634A=) c.475A= (p.Lys159=) n.566+1634A= c.79A= (p.Lys27=) | |
| 1 | g.150750148T>A | CA420697893 | CTSS | c.651A>T (p.Ser217=) c.423A>T (p.Ser141=) c.378A>T (p.Ser126=) c.501A>T (p.Ser167=) c.627+1633A>T (n.627+1633A>T) c.474A>T (p.Ser158=) n.566+1633A>T c.78A>T (p.Ser26=) | |
| 1 | g.150750148T>C | CA420697895 | CTSS | c.651A>G (p.Ser217=) c.423A>G (p.Ser141=) c.378A>G (p.Ser126=) c.501A>G (p.Ser167=) c.627+1633A>G (n.627+1633A>G) c.474A>G (p.Ser158=) n.566+1633A>G c.78A>G (p.Ser26=) | |
| 1 | g.150750148T>G | CA420697897 | CTSS | c.651A>C (p.Ser217=) c.423A>C (p.Ser141=) c.378A>C (p.Ser126=) c.501A>C (p.Ser167=) c.627+1633A>C (n.627+1633A>C) c.474A>C (p.Ser158=) n.566+1633A>C c.78A>C (p.Ser26=) | |
| 1 | g.150750149G>A | CA342327608 | CTSS | c.650C>T (p.Ser217Leu) c.422C>T (p.Ser141Leu) c.377C>T (p.Ser126Leu) c.500C>T (p.Ser167Leu) c.627+1632C>T (n.627+1632C>T) c.473C>T (p.Ser158Leu) n.566+1632C>T c.77C>T (p.Ser26Leu) | |
| 1 | g.150750149G>C | CA342327603 | CTSS | c.650C>G (p.Ser217Ter) c.422C>G (p.Ser141Ter) c.377C>G (p.Ser126Ter) c.500C>G (p.Ser167Ter) c.627+1632C>G (n.627+1632C>G) c.473C>G (p.Ser158Ter) n.566+1632C>G c.77C>G (p.Ser26Ter) | |
| 1 | g.150750149G>T | CA342327605 | CTSS | c.650C>A (p.Ser217Ter) c.422C>A (p.Ser141Ter) c.377C>A (p.Ser126Ter) c.500C>A (p.Ser167Ter) c.627+1632C>A (n.627+1632C>A) c.473C>A (p.Ser158Ter) n.566+1632C>A c.77C>A (p.Ser26Ter) | |
| 1 | g.150750150A>C | CA342327613 | CTSS | c.649T>G (p.Ser217Ala) c.421T>G (p.Ser141Ala) c.376T>G (p.Ser126Ala) c.499T>G (p.Ser167Ala) c.627+1631T>G (n.627+1631T>G) c.472T>G (p.Ser158Ala) n.566+1631T>G c.76T>G (p.Ser26Ala) | |
| 1 | g.150750150A>G | CA342327614 | CTSS | c.649T>C (p.Ser217Pro) c.421T>C (p.Ser141Pro) c.376T>C (p.Ser126Pro) c.499T>C (p.Ser167Pro) c.627+1631T>C (n.627+1631T>C) c.472T>C (p.Ser158Pro) n.566+1631T>C c.76T>C (p.Ser26Pro) | |
| 1 | g.150750150A>T | CA342327618 | CTSS | c.649T>A (p.Ser217Thr) c.421T>A (p.Ser141Thr) c.376T>A (p.Ser126Thr) c.499T>A (p.Ser167Thr) c.627+1631T>A (n.627+1631T>A) c.472T>A (p.Ser158Thr) n.566+1631T>A c.76T>A (p.Ser26Thr) | |
| 1 | g.150750151G>A | CA420697909 | CTSS | c.648C>T (p.Asp216=) c.420C>T (p.Asp140=) c.375C>T (p.Asp125=) c.498C>T (p.Asp166=) c.627+1630C>T (n.627+1630C>T) c.471C>T (p.Asp157=) n.566+1630C>T c.75C>T (p.Asp25=) | |
| 1 | g.150750151G>C | CA342327619 | CTSS | c.648C>G (p.Asp216Glu) c.420C>G (p.Asp140Glu) c.375C>G (p.Asp125Glu) c.498C>G (p.Asp166Glu) c.627+1630C>G (n.627+1630C>G) c.471C>G (p.Asp157Glu) n.566+1630C>G c.75C>G (p.Asp25Glu) | |
| 1 | g.150750151G>T | CA342327621 | CTSS | c.648C>A (p.Asp216Glu) c.420C>A (p.Asp140Glu) c.375C>A (p.Asp125Glu) c.498C>A (p.Asp166Glu) c.627+1630C>A (n.627+1630C>A) c.471C>A (p.Asp157Glu) n.566+1630C>A c.75C>A (p.Asp25Glu) | |
| 1 | g.150750152T>A | CA342327622 | CTSS | c.647A>T (p.Asp216Val) c.419A>T (p.Asp140Val) c.374A>T (p.Asp125Val) c.497A>T (p.Asp166Val) c.627+1629A>T (n.627+1629A>T) c.470A>T (p.Asp157Val) n.566+1629A>T c.74A>T (p.Asp25Val) | |
| 1 | g.150750152T>C | CA30106903 | CTSS | c.647A>G (p.Asp216Gly) c.419A>G (p.Asp140Gly) c.374A>G (p.Asp125Gly) c.497A>G (p.Asp166Gly) c.627+1629A>G (n.627+1629A>G) c.470A>G (p.Asp157Gly) n.566+1629A>G c.74A>G (p.Asp25Gly) | dbSNP |
| 1 | g.150750152T>G | CA342327625 | CTSS | c.647A>C (p.Asp216Ala) c.419A>C (p.Asp140Ala) c.374A>C (p.Asp125Ala) c.497A>C (p.Asp166Ala) c.627+1629A>C (n.627+1629A>C) c.470A>C (p.Asp157Ala) n.566+1629A>C c.74A>C (p.Asp25Ala) | |
| 1 | g.150750152T= | CA2479293051 | CTSS | c.647A= (p.Asp216=) c.419A= (p.Asp140=) c.374A= (p.Asp125=) c.497A= (p.Asp166=) c.627+1629A= (n.627+1629A=) c.470A= (p.Asp157=) n.566+1629A= c.74A= (p.Asp25=) | |
| 1 | g.150750153C>A | CA342327632 | CTSS | c.646G>T (p.Asp216Tyr) c.418G>T (p.Asp140Tyr) c.373G>T (p.Asp125Tyr) c.496G>T (p.Asp166Tyr) c.627+1628G>T (n.627+1628G>T) c.469G>T (p.Asp157Tyr) n.566+1628G>T c.73G>T (p.Asp25Tyr) | gnomAD v4 |
| 1 | g.150750153C>G | CA342327634 | CTSS | c.646G>C (p.Asp216His) c.418G>C (p.Asp140His) c.373G>C (p.Asp125His) c.496G>C (p.Asp166His) c.627+1628G>C (n.627+1628G>C) c.469G>C (p.Asp157His) n.566+1628G>C c.73G>C (p.Asp25His) | |
| 1 | g.150750153C>T | CA342327635 | CTSS | c.646G>A (p.Asp216Asn) c.418G>A (p.Asp140Asn) c.373G>A (p.Asp125Asn) c.496G>A (p.Asp166Asn) c.627+1628G>A (n.627+1628G>A) c.469G>A (p.Asp157Asn) n.566+1628G>A c.73G>A (p.Asp25Asn) | |
| 1 | g.150750154A>C | CA342327639 | CTSS | c.645T>G (p.Tyr215Ter) c.417T>G (p.Tyr139Ter) c.372T>G (p.Tyr124Ter) c.495T>G (p.Tyr165Ter) c.627+1627T>G (n.627+1627T>G) c.468T>G (p.Tyr156Ter) n.566+1627T>G c.72T>G (p.Tyr24Ter) | |
| 1 | g.150750154A>G | CA420697921 | CTSS | c.645T>C (p.Tyr215=) c.417T>C (p.Tyr139=) c.372T>C (p.Tyr124=) c.495T>C (p.Tyr165=) c.627+1627T>C (n.627+1627T>C) c.468T>C (p.Tyr156=) n.566+1627T>C c.72T>C (p.Tyr24=) | |
| 1 | g.150750154A>T | CA342327641 | CTSS | c.645T>A (p.Tyr215Ter) c.417T>A (p.Tyr139Ter) c.372T>A (p.Tyr124Ter) c.495T>A (p.Tyr165Ter) c.627+1627T>A (n.627+1627T>A) c.468T>A (p.Tyr156Ter) n.566+1627T>A c.72T>A (p.Tyr24Ter) | |
| 1 | g.150750155T>A | CA342327645 | CTSS | c.644A>T (p.Tyr215Phe) c.416A>T (p.Tyr139Phe) c.371A>T (p.Tyr124Phe) c.494A>T (p.Tyr165Phe) c.627+1626A>T (n.627+1626A>T) c.467A>T (p.Tyr156Phe) n.566+1626A>T c.71A>T (p.Tyr24Phe) | |
| 1 | g.150750155T>C | CA342327644 | CTSS | c.644A>G (p.Tyr215Cys) c.416A>G (p.Tyr139Cys) c.371A>G (p.Tyr124Cys) c.494A>G (p.Tyr165Cys) c.627+1626A>G (n.627+1626A>G) c.467A>G (p.Tyr156Cys) n.566+1626A>G c.71A>G (p.Tyr24Cys) | |
| 1 | g.150750155T>G | CA342327643 | CTSS | c.644A>C (p.Tyr215Ser) c.416A>C (p.Tyr139Ser) c.371A>C (p.Tyr124Ser) c.494A>C (p.Tyr165Ser) c.627+1626A>C (n.627+1626A>C) c.467A>C (p.Tyr156Ser) n.566+1626A>C c.71A>C (p.Tyr24Ser) | |
| 1 | g.150750156A= | CA2479293052 | CTSS | c.643T= (p.Tyr215=) c.415T= (p.Tyr139=) c.370T= (p.Tyr124=) c.493T= (p.Tyr165=) c.627+1625T= (n.627+1625T=) c.466T= (p.Tyr156=) n.566+1625T= c.70T= (p.Tyr24=) | |
| 1 | g.150750156A>C | CA342327649 | CTSS | c.643T>G (p.Tyr215Asp) c.415T>G (p.Tyr139Asp) c.370T>G (p.Tyr124Asp) c.493T>G (p.Tyr165Asp) c.627+1625T>G (n.627+1625T>G) c.466T>G (p.Tyr156Asp) n.566+1625T>G c.70T>G (p.Tyr24Asp) | |
| 1 | g.150750156A>G | CA342327652 | CTSS | c.643T>C (p.Tyr215His) c.415T>C (p.Tyr139His) c.370T>C (p.Tyr124His) c.493T>C (p.Tyr165His) c.627+1625T>C (n.627+1625T>C) c.466T>C (p.Tyr156His) n.566+1625T>C c.70T>C (p.Tyr24His) | dbSNP gnomAD v4 |
| 1 | g.150750156A>T | CA342327653 | CTSS | c.643T>A (p.Tyr215Asn) c.415T>A (p.Tyr139Asn) c.370T>A (p.Tyr124Asn) c.493T>A (p.Tyr165Asn) c.627+1625T>A (n.627+1625T>A) c.466T>A (p.Tyr156Asn) n.566+1625T>A c.70T>A (p.Tyr24Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750157T>A | CA342327655 | CTSS | c.642A>T (p.Gln214His) c.414A>T (p.Gln138His) c.369A>T (p.Gln123His) c.492A>T (p.Gln164His) c.627+1624A>T (n.627+1624A>T) c.465A>T (p.Gln155His) n.566+1624A>T c.69A>T (p.Gln23His) | dbSNP |
| 1 | g.150750157T>C | CA1080231 | CTSS | c.642A>G (p.Gln214=) c.414A>G (p.Gln138=) c.369A>G (p.Gln123=) c.492A>G (p.Gln164=) c.627+1624A>G (n.627+1624A>G) c.465A>G (p.Gln155=) n.566+1624A>G c.69A>G (p.Gln23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750157T>G | CA342327660 | CTSS | c.642A>C (p.Gln214His) c.414A>C (p.Gln138His) c.369A>C (p.Gln123His) c.492A>C (p.Gln164His) c.627+1624A>C (n.627+1624A>C) c.465A>C (p.Gln155His) n.566+1624A>C c.69A>C (p.Gln23His) | |
| 1 | g.150750157T= | CA2479293053 | CTSS | c.642A= (p.Gln214=) c.414A= (p.Gln138=) c.369A= (p.Gln123=) c.492A= (p.Gln164=) c.627+1624A= (n.627+1624A=) c.465A= (p.Gln155=) n.566+1624A= c.69A= (p.Gln23=) | |
| 1 | g.150750158T>A | CA342327664 | CTSS | c.641A>T (p.Gln214Leu) c.413A>T (p.Gln138Leu) c.368A>T (p.Gln123Leu) c.491A>T (p.Gln164Leu) c.627+1623A>T (n.627+1623A>T) c.464A>T (p.Gln155Leu) n.566+1623A>T c.68A>T (p.Gln23Leu) | |
| 1 | g.150750158T>C | CA342327668 | CTSS | c.641A>G (p.Gln214Arg) c.413A>G (p.Gln138Arg) c.368A>G (p.Gln123Arg) c.491A>G (p.Gln164Arg) c.627+1623A>G (n.627+1623A>G) c.464A>G (p.Gln155Arg) n.566+1623A>G c.68A>G (p.Gln23Arg) | |
| 1 | g.150750158T>G | CA342327665 | CTSS | c.641A>C (p.Gln214Pro) c.413A>C (p.Gln138Pro) c.368A>C (p.Gln123Pro) c.491A>C (p.Gln164Pro) c.627+1623A>C (n.627+1623A>C) c.464A>C (p.Gln155Pro) n.566+1623A>C c.68A>C (p.Gln23Pro) | |
| 1 | g.150750159G>A | CA342327671 | CTSS | c.640C>T (p.Gln214Ter) c.412C>T (p.Gln138Ter) c.367C>T (p.Gln123Ter) c.490C>T (p.Gln164Ter) c.627+1622C>T (n.627+1622C>T) c.463C>T (p.Gln155Ter) n.566+1622C>T c.67C>T (p.Gln23Ter) | |
| 1 | g.150750159G>C | CA342327672 | CTSS | c.640C>G (p.Gln214Glu) c.412C>G (p.Gln138Glu) c.367C>G (p.Gln123Glu) c.490C>G (p.Gln164Glu) c.627+1622C>G (n.627+1622C>G) c.463C>G (p.Gln155Glu) n.566+1622C>G c.67C>G (p.Gln23Glu) | |
| 1 | g.150750159G>T | CA342327675 | CTSS | c.640C>A (p.Gln214Lys) c.412C>A (p.Gln138Lys) c.367C>A (p.Gln123Lys) c.490C>A (p.Gln164Lys) c.627+1622C>A (n.627+1622C>A) c.463C>A (p.Gln155Lys) n.566+1622C>A c.67C>A (p.Gln23Lys) | |
| 1 | g.150750160A>C | CA342327678 | CTSS | c.639T>G (p.Cys213Trp) c.411T>G (p.Cys137Trp) c.366T>G (p.Cys122Trp) c.489T>G (p.Cys163Trp) c.627+1621T>G (n.627+1621T>G) c.462T>G (p.Cys154Trp) n.566+1621T>G c.66T>G (p.Cys22Trp) | |
| 1 | g.150750160A>G | CA420697946 | CTSS | c.639T>C (p.Cys213=) c.411T>C (p.Cys137=) c.366T>C (p.Cys122=) c.489T>C (p.Cys163=) c.627+1621T>C (n.627+1621T>C) c.462T>C (p.Cys154=) n.566+1621T>C c.66T>C (p.Cys22=) | |
| 1 | g.150750160A>T | CA342327680 | CTSS | c.639T>A (p.Cys213Ter) c.411T>A (p.Cys137Ter) c.366T>A (p.Cys122Ter) c.489T>A (p.Cys163Ter) c.627+1621T>A (n.627+1621T>A) c.462T>A (p.Cys154Ter) n.566+1621T>A c.66T>A (p.Cys22Ter) | |
| 1 | g.150750161C>A | CA342327685 | CTSS | c.638G>T (p.Cys213Phe) c.410G>T (p.Cys137Phe) c.365G>T (p.Cys122Phe) c.488G>T (p.Cys163Phe) c.627+1620G>T (n.627+1620G>T) c.461G>T (p.Cys154Phe) n.566+1620G>T c.65G>T (p.Cys22Phe) | |
| 1 | g.150750161C>G | CA342327687 | CTSS | c.638G>C (p.Cys213Ser) c.410G>C (p.Cys137Ser) c.365G>C (p.Cys122Ser) c.488G>C (p.Cys163Ser) c.627+1620G>C (n.627+1620G>C) c.461G>C (p.Cys154Ser) n.566+1620G>C c.65G>C (p.Cys22Ser) | |
| 1 | g.150750161C>T | CA342327690 | CTSS | c.638G>A (p.Cys213Tyr) c.410G>A (p.Cys137Tyr) c.365G>A (p.Cys122Tyr) c.488G>A (p.Cys163Tyr) c.627+1620G>A (n.627+1620G>A) c.461G>A (p.Cys154Tyr) n.566+1620G>A c.65G>A (p.Cys22Tyr) | gnomAD v4 |
| 1 | g.150750162A>C | CA342327693 | CTSS | c.637T>G (p.Cys213Gly) c.409T>G (p.Cys137Gly) c.364T>G (p.Cys122Gly) c.487T>G (p.Cys163Gly) c.627+1619T>G (n.627+1619T>G) c.460T>G (p.Cys154Gly) n.566+1619T>G c.64T>G (p.Cys22Gly) | |
| 1 | g.150750162A>G | CA342327695 | CTSS | c.637T>C (p.Cys213Arg) c.409T>C (p.Cys137Arg) c.364T>C (p.Cys122Arg) c.487T>C (p.Cys163Arg) c.627+1619T>C (n.627+1619T>C) c.460T>C (p.Cys154Arg) n.566+1619T>C c.64T>C (p.Cys22Arg) | |
| 1 | g.150750162A>T | CA342327698 | CTSS | c.637T>A (p.Cys213Ser) c.409T>A (p.Cys137Ser) c.364T>A (p.Cys122Ser) c.487T>A (p.Cys163Ser) c.627+1619T>A (n.627+1619T>A) c.460T>A (p.Cys154Ser) n.566+1619T>A c.64T>A (p.Cys22Ser) | |
| 1 | g.150750163T>A | CA342327701 | CTSS | c.636A>T (p.Lys212Asn) c.408A>T (p.Lys136Asn) c.363A>T (p.Lys121Asn) c.486A>T (p.Lys162Asn) c.627+1618A>T (n.627+1618A>T) c.459A>T (p.Lys153Asn) n.566+1618A>T c.63A>T (p.Lys21Asn) | |
| 1 | g.150750163T>C | CA1080232 | CTSS | c.636A>G (p.Lys212=) c.408A>G (p.Lys136=) c.363A>G (p.Lys121=) c.486A>G (p.Lys162=) c.627+1618A>G (n.627+1618A>G) c.459A>G (p.Lys153=) n.566+1618A>G c.63A>G (p.Lys21=) | dbSNP ExAC gnomAD v2 |
| 1 | g.150750163T>G | CA342327700 | CTSS | c.636A>C (p.Lys212Asn) c.408A>C (p.Lys136Asn) c.363A>C (p.Lys121Asn) c.486A>C (p.Lys162Asn) c.627+1618A>C (n.627+1618A>C) c.459A>C (p.Lys153Asn) n.566+1618A>C c.63A>C (p.Lys21Asn) | |
| 1 | g.150750163T= | CA2479293054 | CTSS | c.636A= (p.Lys212=) c.408A= (p.Lys136=) c.363A= (p.Lys121=) c.486A= (p.Lys162=) c.627+1618A= (n.627+1618A=) c.459A= (p.Lys153=) n.566+1618A= c.63A= (p.Lys21=) | |
| 1 | g.150750164T>A | CA342327705 | CTSS | c.635A>T (p.Lys212Ile) c.407A>T (p.Lys136Ile) c.362A>T (p.Lys121Ile) c.485A>T (p.Lys162Ile) c.627+1617A>T (n.627+1617A>T) c.458A>T (p.Lys153Ile) n.566+1617A>T c.62A>T (p.Lys21Ile) | |
| 1 | g.150750164T>C | CA342327708 | CTSS | c.635A>G (p.Lys212Arg) c.407A>G (p.Lys136Arg) c.362A>G (p.Lys121Arg) c.485A>G (p.Lys162Arg) c.627+1617A>G (n.627+1617A>G) c.458A>G (p.Lys153Arg) n.566+1617A>G c.62A>G (p.Lys21Arg) | dbSNP |
| 1 | g.150750164T>G | CA342327706 | CTSS | c.635A>C (p.Lys212Thr) c.407A>C (p.Lys136Thr) c.362A>C (p.Lys121Thr) c.485A>C (p.Lys162Thr) c.627+1617A>C (n.627+1617A>C) c.458A>C (p.Lys153Thr) n.566+1617A>C c.62A>C (p.Lys21Thr) | |
| 1 | g.150750164T= | CA2479293055 | CTSS | c.635A= (p.Lys212=) c.407A= (p.Lys136=) c.362A= (p.Lys121=) c.485A= (p.Lys162=) c.627+1617A= (n.627+1617A=) c.458A= (p.Lys153=) n.566+1617A= c.62A= (p.Lys21=) | |
| 1 | g.150750165T>A | CA342327709 | CTSS | c.634A>T (p.Lys212Ter) c.406A>T (p.Lys136Ter) c.361A>T (p.Lys121Ter) c.484A>T (p.Lys162Ter) c.627+1616A>T (n.627+1616A>T) c.457A>T (p.Lys153Ter) n.566+1616A>T c.61A>T (p.Lys21Ter) | |
| 1 | g.150750165T>C | CA342327713 | CTSS | c.634A>G (p.Lys212Glu) c.406A>G (p.Lys136Glu) c.361A>G (p.Lys121Glu) c.484A>G (p.Lys162Glu) c.627+1616A>G (n.627+1616A>G) c.457A>G (p.Lys153Glu) n.566+1616A>G c.61A>G (p.Lys21Glu) | |
| 1 | g.150750165T>G | CA342327711 | CTSS | c.634A>C (p.Lys212Gln) c.406A>C (p.Lys136Gln) c.361A>C (p.Lys121Gln) c.484A>C (p.Lys162Gln) c.627+1616A>C (n.627+1616A>C) c.457A>C (p.Lys153Gln) n.566+1616A>C c.61A>C (p.Lys21Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750165T= | CA2479293056 | CTSS | c.634A= (p.Lys212=) c.406A= (p.Lys136=) c.361A= (p.Lys121=) c.484A= (p.Lys162=) c.627+1616A= (n.627+1616A=) c.457A= (p.Lys153=) n.566+1616A= c.61A= (p.Lys21=) | |
| 1 | g.150750166C>A | CA342327715 | CTSS | c.633G>T (p.Gln211His) c.405G>T (p.Gln135His) c.360G>T (p.Gln120His) c.483G>T (p.Gln161His) c.627+1615G>T (n.627+1615G>T) c.456G>T (p.Gln152His) n.566+1615G>T c.60G>T (p.Gln20His) | |
| 1 | g.150750166C= | CA2479293057 | CTSS | c.633G= (p.Gln211=) c.405G= (p.Gln135=) c.360G= (p.Gln120=) c.483G= (p.Gln161=) c.627+1615G= (n.627+1615G=) c.456G= (p.Gln152=) n.566+1615G= c.60G= (p.Gln20=) | |
| 1 | g.150750166C>G | CA342327716 | CTSS | c.633G>C (p.Gln211His) c.405G>C (p.Gln135His) c.360G>C (p.Gln120His) c.483G>C (p.Gln161His) c.627+1615G>C (n.627+1615G>C) c.456G>C (p.Gln152His) n.566+1615G>C c.60G>C (p.Gln20His) | |
| 1 | g.150750166C>T | CA420697973 | CTSS | c.633G>A (p.Gln211=) c.405G>A (p.Gln135=) c.360G>A (p.Gln120=) c.483G>A (p.Gln161=) c.627+1615G>A (n.627+1615G>A) c.456G>A (p.Gln152=) n.566+1615G>A c.60G>A (p.Gln20=) | dbSNP |
| 1 | g.150750167T>A | CA342327719 | CTSS | c.632A>T (p.Gln211Leu) c.404A>T (p.Gln135Leu) c.359A>T (p.Gln120Leu) c.482A>T (p.Gln161Leu) c.627+1614A>T (n.627+1614A>T) c.455A>T (p.Gln152Leu) n.566+1614A>T c.59A>T (p.Gln20Leu) | |
| 1 | g.150750167T>C | CA342327721 | CTSS | c.632A>G (p.Gln211Arg) c.404A>G (p.Gln135Arg) c.359A>G (p.Gln120Arg) c.482A>G (p.Gln161Arg) c.627+1614A>G (n.627+1614A>G) c.455A>G (p.Gln152Arg) n.566+1614A>G c.59A>G (p.Gln20Arg) | |
| 1 | g.150750167T>G | CA342327723 | CTSS | c.632A>C (p.Gln211Pro) c.404A>C (p.Gln135Pro) c.359A>C (p.Gln120Pro) c.482A>C (p.Gln161Pro) c.627+1614A>C (n.627+1614A>C) c.455A>C (p.Gln152Pro) n.566+1614A>C c.59A>C (p.Gln20Pro) | |
| 1 | g.150750168G>A | CA342327728 | CTSS | c.631C>T (p.Gln211Ter) c.403C>T (p.Gln135Ter) c.358C>T (p.Gln120Ter) c.481C>T (p.Gln161Ter) c.627+1613C>T (n.627+1613C>T) c.454C>T (p.Gln152Ter) n.566+1613C>T c.58C>T (p.Gln20Ter) | gnomAD v4 |
| 1 | g.150750168G>C | CA342327731 | CTSS | c.631C>G (p.Gln211Glu) c.403C>G (p.Gln135Glu) c.358C>G (p.Gln120Glu) c.481C>G (p.Gln161Glu) c.627+1613C>G (n.627+1613C>G) c.454C>G (p.Gln152Glu) n.566+1613C>G c.58C>G (p.Gln20Glu) | COSMIC |
| 1 | g.150750168G>T | CA342327733 | CTSS | c.631C>A (p.Gln211Lys) c.403C>A (p.Gln135Lys) c.358C>A (p.Gln120Lys) c.481C>A (p.Gln161Lys) c.627+1613C>A (n.627+1613C>A) c.454C>A (p.Gln152Lys) n.566+1613C>A c.58C>A (p.Gln20Lys) | gnomAD v4 |
| 1 | g.150750169A>C | CA342327737 | CTSS | c.630T>G (p.Asp210Glu) c.402T>G (p.Asp134Glu) c.357T>G (p.Asp119Glu) c.480T>G (p.Asp160Glu) c.627+1612T>G (n.627+1612T>G) c.453T>G (p.Asp151Glu) n.566+1612T>G c.57T>G (p.Asp19Glu) | |
| 1 | g.150750169A>G | CA420697989 | CTSS | c.630T>C (p.Asp210=) c.402T>C (p.Asp134=) c.357T>C (p.Asp119=) c.480T>C (p.Asp160=) c.627+1612T>C (n.627+1612T>C) c.453T>C (p.Asp151=) n.566+1612T>C c.57T>C (p.Asp19=) | gnomAD v4 |
| 1 | g.150750169A>T | CA342327738 | CTSS | c.630T>A (p.Asp210Glu) c.402T>A (p.Asp134Glu) c.357T>A (p.Asp119Glu) c.480T>A (p.Asp160Glu) c.627+1612T>A (n.627+1612T>A) c.453T>A (p.Asp151Glu) n.566+1612T>A c.57T>A (p.Asp19Glu) | |
| 1 | g.150750170T>A | CA342327740 | CTSS | c.629A>T (p.Asp210Val) c.401A>T (p.Asp134Val) c.356A>T (p.Asp119Val) c.479A>T (p.Asp160Val) c.627+1611A>T (n.627+1611A>T) c.452A>T (p.Asp151Val) n.566+1611A>T c.56A>T (p.Asp19Val) | |
| 1 | g.150750170T>C | CA342327742 | CTSS | c.629A>G (p.Asp210Gly) c.401A>G (p.Asp134Gly) c.356A>G (p.Asp119Gly) c.479A>G (p.Asp160Gly) c.627+1611A>G (n.627+1611A>G) c.452A>G (p.Asp151Gly) n.566+1611A>G c.56A>G (p.Asp19Gly) | gnomAD v4 |
| 1 | g.150750170T>G | CA342327744 | CTSS | c.629A>C (p.Asp210Ala) c.401A>C (p.Asp134Ala) c.356A>C (p.Asp119Ala) c.479A>C (p.Asp160Ala) c.627+1611A>C (n.627+1611A>C) c.452A>C (p.Asp151Ala) n.566+1611A>C c.56A>C (p.Asp19Ala) | |
| 1 | g.150750171C>A | CA342327751 | CTSS | c.628G>T (p.Asp210Tyr) c.400G>T (p.Asp134Tyr) c.355G>T (p.Asp119Tyr) c.478G>T (p.Asp160Tyr) c.627+1610G>T (n.627+1610G>T) c.451G>T (p.Asp151Tyr) n.566+1610G>T c.55G>T (p.Asp19Tyr) | |
| 1 | g.150750171C>G | CA342327749 | CTSS | c.628G>C (p.Asp210His) c.400G>C (p.Asp134His) c.355G>C (p.Asp119His) c.478G>C (p.Asp160His) c.627+1610G>C (n.627+1610G>C) c.451G>C (p.Asp151His) n.566+1610G>C c.55G>C (p.Asp19His) | |
| 1 | g.150750171C>T | CA342327747 | CTSS | c.628G>A (p.Asp210Asn) c.400G>A (p.Asp134Asn) c.355G>A (p.Asp119Asn) c.478G>A (p.Asp160Asn) c.627+1610G>A (n.627+1610G>A) c.451G>A (p.Asp151Asn) n.566+1610G>A c.55G>A (p.Asp19Asn) | |
| 1 | g.150750172del | CA2647833120 | CTSS | c.628del c.400del c.355del c.478del c.627+1610del (n.627+1610del) c.451del n.566+1610del c.55del | gnomAD v4 |
| 1 | g.150750172C>A | CA342327752 | CTSS | c.628-1G>T (n.628-1G>T) c.400-1G>T (n.400-1G>T) c.355-1G>T (n.355-1G>T) c.478-1G>T (n.478-1G>T) c.627+1609G>T (n.627+1609G>T) c.451-1G>T (n.451-1G>T) n.566+1609G>T c.55-1G>T (n.55-1G>T) | |
| 1 | g.150750172C>G | CA342327753 | CTSS | c.628-1G>C (n.628-1G>C) c.400-1G>C (n.400-1G>C) c.355-1G>C (n.355-1G>C) c.478-1G>C (n.478-1G>C) c.627+1609G>C (n.627+1609G>C) c.451-1G>C (n.451-1G>C) n.566+1609G>C c.55-1G>C (n.55-1G>C) | |
| 1 | g.150750172C>T | CA342327754 | CTSS | c.628-1G>A (n.628-1G>A) c.400-1G>A (n.400-1G>A) c.355-1G>A (n.355-1G>A) c.478-1G>A (n.478-1G>A) c.627+1609G>A (n.627+1609G>A) c.451-1G>A (n.451-1G>A) n.566+1609G>A c.55-1G>A (n.55-1G>A) | |
| 1 | g.150750173T>A | CA342327755 | CTSS | c.628-2A>T (n.628-2A>T) c.400-2A>T (n.400-2A>T) c.355-2A>T (n.355-2A>T) c.478-2A>T (n.478-2A>T) c.627+1608A>T (n.627+1608A>T) c.451-2A>T (n.451-2A>T) n.566+1608A>T c.55-2A>T (n.55-2A>T) | |
| 1 | g.150750173T>C | CA342327757 | CTSS | c.628-2A>G (n.628-2A>G) c.400-2A>G (n.400-2A>G) c.355-2A>G (n.355-2A>G) c.478-2A>G (n.478-2A>G) c.627+1608A>G (n.627+1608A>G) c.451-2A>G (n.451-2A>G) n.566+1608A>G c.55-2A>G (n.55-2A>G) | gnomAD v4 |
| 1 | g.150750173T>G | CA342327759 | CTSS | c.628-2A>C (n.628-2A>C) c.400-2A>C (n.400-2A>C) c.355-2A>C (n.355-2A>C) c.478-2A>C (n.478-2A>C) c.627+1608A>C (n.627+1608A>C) c.451-2A>C (n.451-2A>C) n.566+1608A>C c.55-2A>C (n.55-2A>C) | |
| 1 | g.150750174G>A | CA2647833124 | CTSS | c.628-3C>T (n.628-3C>T) c.400-3C>T (n.400-3C>T) c.355-3C>T (n.355-3C>T) c.478-3C>T (n.478-3C>T) c.627+1607C>T (n.627+1607C>T) c.451-3C>T (n.451-3C>T) n.566+1607C>T c.55-3C>T (n.55-3C>T) | gnomAD v4 |
| 1 | g.150750175C>A | CA2586967414 | CTSS | c.628-4G>T (n.628-4G>T) c.400-4G>T (n.400-4G>T) c.355-4G>T (n.355-4G>T) c.478-4G>T (n.478-4G>T) c.627+1606G>T (n.627+1606G>T) c.451-4G>T (n.451-4G>T) n.566+1606G>T c.55-4G>T (n.55-4G>T) | |
| 1 | g.150750175C= | CA2479293058 | CTSS | c.628-4G= (n.628-4G=) c.400-4G= (n.400-4G=) c.355-4G= (n.355-4G=) c.478-4G= (n.478-4G=) c.627+1606G= (n.627+1606G=) c.451-4G= (n.451-4G=) n.566+1606G= c.55-4G= (n.55-4G=) | |
| 1 | g.150750175C>G | CA30106911 | CTSS | c.628-4G>C (n.628-4G>C) c.400-4G>C (n.400-4G>C) c.355-4G>C (n.355-4G>C) c.478-4G>C (n.478-4G>C) c.627+1606G>C (n.627+1606G>C) c.451-4G>C (n.451-4G>C) n.566+1606G>C c.55-4G>C (n.55-4G>C) | dbSNP |
| 1 | g.150750175_150750176delinsCA | CA2479293059 | CTSS | c.628-5_628-4delinsTG (n.628-5_628-4delinsTG) c.400-5_400-4delinsTG (n.400-5_400-4delinsTG) c.355-5_355-4delinsTG (n.355-5_355-4delinsTG) c.478-5_478-4delinsTG (n.478-5_478-4delinsTG) c.627+1605_627+1606delinsTG (n.627+1605_627+1606delinsTG) c.451-5_451-4delinsTG (n.451-5_451-4delinsTG) n.566+1605_566+1606delinsTG c.55-5_55-4delinsTG (n.55-5_55-4delinsTG) | |
| 1 | g.150750180del | CA526261189 | CTSS | c.628-5del (n.628-5del) c.400-5del (n.400-5del) c.355-5del (n.355-5del) c.478-5del (n.478-5del) c.627+1605del (n.627+1605del) c.451-5del (n.451-5del) n.566+1605del c.55-5del (n.55-5del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750177A>G | CA2647833130 | CTSS | c.628-6T>C (n.628-6T>C) c.400-6T>C (n.400-6T>C) c.355-6T>C (n.355-6T>C) c.478-6T>C (n.478-6T>C) c.627+1604T>C (n.627+1604T>C) c.451-6T>C (n.451-6T>C) n.566+1604T>C c.55-6T>C (n.55-6T>C) | gnomAD v4 |
| 1 | g.150750182A= | CA2479293060 | CTSS | c.628-11T= (n.628-11T=) c.400-11T= (n.400-11T=) c.355-11T= (n.355-11T=) c.478-11T= (n.478-11T=) c.627+1599T= (n.627+1599T=) c.451-11T= (n.451-11T=) n.566+1599T= c.55-11T= (n.55-11T=) | |
| 1 | g.150750182A>G | CA526261190 | CTSS | c.628-11T>C (n.628-11T>C) c.400-11T>C (n.400-11T>C) c.355-11T>C (n.355-11T>C) c.478-11T>C (n.478-11T>C) c.627+1599T>C (n.627+1599T>C) c.451-11T>C (n.451-11T>C) n.566+1599T>C c.55-11T>C (n.55-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750182A>T | CA2647833132 | CTSS | c.628-11T>A (n.628-11T>A) c.400-11T>A (n.400-11T>A) c.355-11T>A (n.355-11T>A) c.478-11T>A (n.478-11T>A) c.627+1599T>A (n.627+1599T>A) c.451-11T>A (n.451-11T>A) n.566+1599T>A c.55-11T>A (n.55-11T>A) | gnomAD v4 |
| 1 | g.150750183A= | CA2479293061 | CTSS | c.628-12T= (n.628-12T=) c.400-12T= (n.400-12T=) c.355-12T= (n.355-12T=) c.478-12T= (n.478-12T=) c.627+1598T= (n.627+1598T=) c.451-12T= (n.451-12T=) n.566+1598T= c.55-12T= (n.55-12T=) | |
| 1 | g.150750183A>C | CA2647833134 | CTSS | c.628-12T>G (n.628-12T>G) c.400-12T>G (n.400-12T>G) c.355-12T>G (n.355-12T>G) c.478-12T>G (n.478-12T>G) c.627+1598T>G (n.627+1598T>G) c.451-12T>G (n.451-12T>G) n.566+1598T>G c.55-12T>G (n.55-12T>G) | gnomAD v4 |
| 1 | g.150750183A>G | CA1080233 | CTSS | c.628-12T>C (n.628-12T>C) c.400-12T>C (n.400-12T>C) c.355-12T>C (n.355-12T>C) c.478-12T>C (n.478-12T>C) c.627+1598T>C (n.627+1598T>C) c.451-12T>C (n.451-12T>C) n.566+1598T>C c.55-12T>C (n.55-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750184G>A | CA1080234 | CTSS | c.628-13C>T (n.628-13C>T) c.400-13C>T (n.400-13C>T) c.355-13C>T (n.355-13C>T) c.478-13C>T (n.478-13C>T) c.627+1597C>T (n.627+1597C>T) c.451-13C>T (n.451-13C>T) n.566+1597C>T c.55-13C>T (n.55-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.150750184G= | CA2479293062 | CTSS | c.628-13C= (n.628-13C=) c.400-13C= (n.400-13C=) c.355-13C= (n.355-13C=) c.478-13C= (n.478-13C=) c.627+1597C= (n.627+1597C=) c.451-13C= (n.451-13C=) n.566+1597C= c.55-13C= (n.55-13C=) | |
| 1 | g.150750185T>C | CA2479293064 | CTSS | c.628-14A>G (n.628-14A>G) c.400-14A>G (n.400-14A>G) c.355-14A>G (n.355-14A>G) c.478-14A>G (n.478-14A>G) c.627+1596A>G (n.627+1596A>G) c.451-14A>G (n.451-14A>G) n.566+1596A>G c.55-14A>G (n.55-14A>G) | dbSNP |
| 1 | g.150750185T= | CA2479293063 | CTSS | c.628-14A= (n.628-14A=) c.400-14A= (n.400-14A=) c.355-14A= (n.355-14A=) c.478-14A= (n.478-14A=) c.627+1596A= (n.627+1596A=) c.451-14A= (n.451-14A=) n.566+1596A= c.55-14A= (n.55-14A=) | |
| 1 | g.150750186A= | CA1144082067 | CTSS | c.628-15T= (n.628-15T=) c.400-15T= (n.400-15T=) c.355-15T= (n.355-15T=) c.478-15T= (n.478-15T=) c.627+1595T= (n.627+1595T=) c.451-15T= (n.451-15T=) n.566+1595T= c.55-15T= (n.55-15T=) | |
| 1 | g.150750186A>G | CA30106938 | CTSS | c.628-15T>C (n.628-15T>C) c.400-15T>C (n.400-15T>C) c.355-15T>C (n.355-15T>C) c.478-15T>C (n.478-15T>C) c.627+1595T>C (n.627+1595T>C) c.451-15T>C (n.451-15T>C) n.566+1595T>C c.55-15T>C (n.55-15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750186A>T | CA1007653338 | CTSS | c.628-15T>A (n.628-15T>A) c.400-15T>A (n.400-15T>A) c.355-15T>A (n.355-15T>A) c.478-15T>A (n.478-15T>A) c.627+1595T>A (n.627+1595T>A) c.451-15T>A (n.451-15T>A) n.566+1595T>A c.55-15T>A (n.55-15T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750187T>C | CA2540930373 | CTSS | c.628-16A>G (n.628-16A>G) c.400-16A>G (n.400-16A>G) c.355-16A>G (n.355-16A>G) c.478-16A>G (n.478-16A>G) c.627+1594A>G (n.627+1594A>G) c.451-16A>G (n.451-16A>G) n.566+1594A>G c.55-16A>G (n.55-16A>G) | gnomAD v4 |
| 1 | g.150750190A= | CA2479293065 | CTSS | c.628-19T= (n.628-19T=) c.400-19T= (n.400-19T=) c.355-19T= (n.355-19T=) c.478-19T= (n.478-19T=) c.627+1591T= (n.627+1591T=) c.451-19T= (n.451-19T=) n.566+1591T= c.55-19T= (n.55-19T=) | |
| 1 | g.150750190A>C | CA2647833143 | CTSS | c.628-19T>G (n.628-19T>G) c.400-19T>G (n.400-19T>G) c.355-19T>G (n.355-19T>G) c.478-19T>G (n.478-19T>G) c.627+1591T>G (n.627+1591T>G) c.451-19T>G (n.451-19T>G) n.566+1591T>G c.55-19T>G (n.55-19T>G) | gnomAD v4 |
| 1 | g.150750190A>G | CA2479293066 | CTSS | c.628-19T>C (n.628-19T>C) c.400-19T>C (n.400-19T>C) c.355-19T>C (n.355-19T>C) c.478-19T>C (n.478-19T>C) c.627+1591T>C (n.627+1591T>C) c.451-19T>C (n.451-19T>C) n.566+1591T>C c.55-19T>C (n.55-19T>C) | dbSNP gnomAD v4 |
| 1 | g.150750190A>T | CA889257469 | CTSS | c.628-19T>A (n.628-19T>A) c.400-19T>A (n.400-19T>A) c.355-19T>A (n.355-19T>A) c.478-19T>A (n.478-19T>A) c.627+1591T>A (n.627+1591T>A) c.451-19T>A (n.451-19T>A) n.566+1591T>A c.55-19T>A (n.55-19T>A) | dbSNP |
| 1 | g.150750192A>C | CA2697408707 | CTSS | c.628-21T>G (n.628-21T>G) c.400-21T>G (n.400-21T>G) c.355-21T>G (n.355-21T>G) c.478-21T>G (n.478-21T>G) c.627+1589T>G (n.627+1589T>G) c.451-21T>G (n.451-21T>G) n.566+1589T>G c.55-21T>G (n.55-21T>G) | dbSNP |
| 1 | g.150750193T>A | CA2697408708 | CTSS | c.628-22A>T (n.628-22A>T) c.400-22A>T (n.400-22A>T) c.355-22A>T (n.355-22A>T) c.478-22A>T (n.478-22A>T) c.627+1588A>T (n.627+1588A>T) c.451-22A>T (n.451-22A>T) n.566+1588A>T c.55-22A>T (n.55-22A>T) | dbSNP |
| 1 | g.150750194G>T | CA2647833145 | CTSS | c.628-23C>A (n.628-23C>A) c.400-23C>A (n.400-23C>A) c.355-23C>A (n.355-23C>A) c.478-23C>A (n.478-23C>A) c.627+1587C>A (n.627+1587C>A) c.451-23C>A (n.451-23C>A) n.566+1587C>A c.55-23C>A (n.55-23C>A) | gnomAD v4 |
| 1 | g.150750195A>T | CA2647833146 | CTSS | c.628-24T>A (n.628-24T>A) c.400-24T>A (n.400-24T>A) c.355-24T>A (n.355-24T>A) c.478-24T>A (n.478-24T>A) c.627+1586T>A (n.627+1586T>A) c.451-24T>A (n.451-24T>A) n.566+1586T>A c.55-24T>A (n.55-24T>A) | gnomAD v4 |
| 1 | g.150750196T>A | CA2647833147 | CTSS | c.628-25A>T (n.628-25A>T) c.400-25A>T (n.400-25A>T) c.355-25A>T (n.355-25A>T) c.478-25A>T (n.478-25A>T) c.627+1585A>T (n.627+1585A>T) c.451-25A>T (n.451-25A>T) n.566+1585A>T c.55-25A>T (n.55-25A>T) | gnomAD v4 |
| 1 | g.150750197G= | CA2479293067 | CTSS | c.628-26C= (n.628-26C=) c.400-26C= (n.400-26C=) c.355-26C= (n.355-26C=) c.478-26C= (n.478-26C=) c.627+1584C= (n.627+1584C=) c.451-26C= (n.451-26C=) n.566+1584C= c.55-26C= (n.55-26C=) | |
| 1 | g.150750197G>T | CA2647833149 | CTSS | c.628-26C>A (n.628-26C>A) c.400-26C>A (n.400-26C>A) c.355-26C>A (n.355-26C>A) c.478-26C>A (n.478-26C>A) c.627+1584C>A (n.627+1584C>A) c.451-26C>A (n.451-26C>A) n.566+1584C>A c.55-26C>A (n.55-26C>A) | gnomAD v4 |
| 1 | g.150750197_150750198insT | CA1007653343 | CTSS | c.628-27_628-26insA (n.628-27_628-26insA) c.400-27_400-26insA (n.400-27_400-26insA) c.355-27_355-26insA (n.355-27_355-26insA) c.478-27_478-26insA (n.478-27_478-26insA) c.627+1583_627+1584insA (n.627+1583_627+1584insA) c.451-27_451-26insA (n.451-27_451-26insA) n.566+1583_566+1584insA c.55-27_55-26insA (n.55-27_55-26insA) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.150750198A>T | CA2647833150 | CTSS | c.628-27T>A (n.628-27T>A) c.400-27T>A (n.400-27T>A) c.355-27T>A (n.355-27T>A) c.478-27T>A (n.478-27T>A) c.627+1583T>A (n.627+1583T>A) c.451-27T>A (n.451-27T>A) n.566+1583T>A c.55-27T>A (n.55-27T>A) | gnomAD v4 |
| 1 | g.150750200G>A | CA526261191 | CTSS | c.628-29C>T (n.628-29C>T) c.400-29C>T (n.400-29C>T) c.355-29C>T (n.355-29C>T) c.478-29C>T (n.478-29C>T) c.627+1581C>T (n.627+1581C>T) c.451-29C>T (n.451-29C>T) n.566+1581C>T c.55-29C>T (n.55-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.150750200G= | CA2479293068 | CTSS | c.628-29C= (n.628-29C=) c.400-29C= (n.400-29C=) c.355-29C= (n.355-29C=) c.478-29C= (n.478-29C=) c.627+1581C= (n.627+1581C=) c.451-29C= (n.451-29C=) n.566+1581C= c.55-29C= (n.55-29C=) | |
| 1 | g.150750200G>T | CA2647833153 | CTSS | c.628-29C>A (n.628-29C>A) c.400-29C>A (n.400-29C>A) c.355-29C>A (n.355-29C>A) c.478-29C>A (n.478-29C>A) c.627+1581C>A (n.627+1581C>A) c.451-29C>A (n.451-29C>A) n.566+1581C>A c.55-29C>A (n.55-29C>A) | gnomAD v4 |
| 1 | g.150750203T>C | CA526261192 | CTSS | c.628-32A>G (n.628-32A>G) c.400-32A>G (n.400-32A>G) c.355-32A>G (n.355-32A>G) c.478-32A>G (n.478-32A>G) c.627+1578A>G (n.627+1578A>G) c.451-32A>G (n.451-32A>G) n.566+1578A>G c.55-32A>G (n.55-32A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750203T= | CA2479293069 | CTSS | c.628-32A= (n.628-32A=) c.400-32A= (n.400-32A=) c.355-32A= (n.355-32A=) c.478-32A= (n.478-32A=) c.627+1578A= (n.627+1578A=) c.451-32A= (n.451-32A=) n.566+1578A= c.55-32A= (n.55-32A=) | |
| 1 | g.150750205C= | CA2479293070 | CTSS | c.628-34G= (n.628-34G=) c.400-34G= (n.400-34G=) c.355-34G= (n.355-34G=) c.478-34G= (n.478-34G=) c.627+1576G= (n.627+1576G=) c.451-34G= (n.451-34G=) n.566+1576G= c.55-34G= (n.55-34G=) | |
| 1 | g.150750205C>G | CA526261193 | CTSS | c.628-34G>C (n.628-34G>C) c.400-34G>C (n.400-34G>C) c.355-34G>C (n.355-34G>C) c.478-34G>C (n.478-34G>C) c.627+1576G>C (n.627+1576G>C) c.451-34G>C (n.451-34G>C) n.566+1576G>C c.55-34G>C (n.55-34G>C) | dbSNP gnomAD v2 |
| 1 | g.150750206T>G | CA30106945 | CTSS | c.628-35A>C (n.628-35A>C) c.400-35A>C (n.400-35A>C) c.355-35A>C (n.355-35A>C) c.478-35A>C (n.478-35A>C) c.627+1575A>C (n.627+1575A>C) c.451-35A>C (n.451-35A>C) n.566+1575A>C c.55-35A>C (n.55-35A>C) | dbSNP |
| 1 | g.150750206T= | CA2479293071 | CTSS | c.628-35A= (n.628-35A=) c.400-35A= (n.400-35A=) c.355-35A= (n.355-35A=) c.478-35A= (n.478-35A=) c.627+1575A= (n.627+1575A=) c.451-35A= (n.451-35A=) n.566+1575A= c.55-35A= (n.55-35A=) | |
| 1 | g.150750208C>T | CA2647833157 | CTSS | c.628-37G>A (n.628-37G>A) c.400-37G>A (n.400-37G>A) c.355-37G>A (n.355-37G>A) c.478-37G>A (n.478-37G>A) c.627+1573G>A (n.627+1573G>A) c.451-37G>A (n.451-37G>A) n.566+1573G>A c.55-37G>A (n.55-37G>A) | gnomAD v4 |
| 1 | g.150750209A= | CA2479293072 | CTSS | c.628-38T= (n.628-38T=) c.400-38T= (n.400-38T=) c.355-38T= (n.355-38T=) c.478-38T= (n.478-38T=) c.627+1572T= (n.627+1572T=) c.451-38T= (n.451-38T=) n.566+1572T= c.55-38T= (n.55-38T=) | |
| 1 | g.150750209A>C | CA646271536 | CTSS | c.628-38T>G (n.628-38T>G) c.400-38T>G (n.400-38T>G) c.355-38T>G (n.355-38T>G) c.478-38T>G (n.478-38T>G) c.627+1572T>G (n.627+1572T>G) c.451-38T>G (n.451-38T>G) n.566+1572T>G c.55-38T>G (n.55-38T>G) | COSMIC COSMIC |
| 1 | g.150750209A>G | CA1080235 | CTSS | c.628-38T>C (n.628-38T>C) c.400-38T>C (n.400-38T>C) c.355-38T>C (n.355-38T>C) c.478-38T>C (n.478-38T>C) c.627+1572T>C (n.627+1572T>C) c.451-38T>C (n.451-38T>C) n.566+1572T>C c.55-38T>C (n.55-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.150750209_150750210insTCAT | CA2647833160 | CTSS | c.628-39_628-38insATGA (n.628-39_628-38insATGA) c.400-39_400-38insATGA (n.400-39_400-38insATGA) c.355-39_355-38insATGA (n.355-39_355-38insATGA) c.478-39_478-38insATGA (n.478-39_478-38insATGA) c.627+1571_627+1572insATGA (n.627+1571_627+1572insATGA) c.451-39_451-38insATGA (n.451-39_451-38insATGA) n.566+1571_566+1572insATGA c.55-39_55-38insATGA (n.55-39_55-38insATGA) | gnomAD v4 |
| 1 | g.150750210A>T | CA2647833161 | CTSS | c.628-39T>A (n.628-39T>A) c.400-39T>A (n.400-39T>A) c.355-39T>A (n.355-39T>A) c.478-39T>A (n.478-39T>A) c.627+1571T>A (n.627+1571T>A) c.451-39T>A (n.451-39T>A) n.566+1571T>A c.55-39T>A (n.55-39T>A) | gnomAD v4 |
| 1 | g.150750210_150750211del | CA2647833162 | CTSS | c.628-40_628-39del (n.628-40_628-39del) c.400-40_400-39del (n.400-40_400-39del) c.355-40_355-39del (n.355-40_355-39del) c.478-40_478-39del (n.478-40_478-39del) c.627+1570_627+1571del (n.627+1570_627+1571del) c.451-40_451-39del (n.451-40_451-39del) n.566+1570_566+1571del c.55-40_55-39del (n.55-40_55-39del) | gnomAD v4 |
| 1 | g.150750211C>T | CA2647833163 | CTSS | c.628-40G>A (n.628-40G>A) c.400-40G>A (n.400-40G>A) c.355-40G>A (n.355-40G>A) c.478-40G>A (n.478-40G>A) c.627+1570G>A (n.627+1570G>A) c.451-40G>A (n.451-40G>A) n.566+1570G>A c.55-40G>A (n.55-40G>A) | gnomAD v4 |
| 1 | g.150750213_150750214insAT | CA2647833168 | CTSS | c.628-43_628-42insAT (n.628-43_628-42insAT) c.400-43_400-42insAT (n.400-43_400-42insAT) c.355-43_355-42insAT (n.355-43_355-42insAT) c.478-43_478-42insAT (n.478-43_478-42insAT) c.627+1567_627+1568insAT (n.627+1567_627+1568insAT) c.451-43_451-42insAT (n.451-43_451-42insAT) n.566+1567_566+1568insAT c.55-43_55-42insAT (n.55-43_55-42insAT) | gnomAD v4 |
| 1 | g.150750214C>A | CA2647833166 | CTSS | c.628-43G>T (n.628-43G>T) c.400-43G>T (n.400-43G>T) c.355-43G>T (n.355-43G>T) c.478-43G>T (n.478-43G>T) c.627+1567G>T (n.627+1567G>T) c.451-43G>T (n.451-43G>T) n.566+1567G>T c.55-43G>T (n.55-43G>T) | gnomAD v4 |
| 1 | g.150750214_150750217del | CA2647833164 | CTSS | c.628-46_628-43del (n.628-46_628-43del) c.400-46_400-43del (n.400-46_400-43del) c.355-46_355-43del (n.355-46_355-43del) c.478-46_478-43del (n.478-46_478-43del) c.627+1564_627+1567del (n.627+1564_627+1567del) c.451-46_451-43del (n.451-46_451-43del) n.566+1564_566+1567del c.55-46_55-43del (n.55-46_55-43del) | gnomAD v4 |
| 1 | g.150750215T>C | CA2647833170 | CTSS | c.628-44A>G (n.628-44A>G) c.400-44A>G (n.400-44A>G) c.355-44A>G (n.355-44A>G) c.478-44A>G (n.478-44A>G) c.627+1566A>G (n.627+1566A>G) c.451-44A>G (n.451-44A>G) n.566+1566A>G c.55-44A>G (n.55-44A>G) | gnomAD v4 |
| 1 | g.150750216G>A | CA2647833171 | CTSS | c.628-45C>T (n.628-45C>T) c.400-45C>T (n.400-45C>T) c.355-45C>T (n.355-45C>T) c.478-45C>T (n.478-45C>T) c.627+1565C>T (n.627+1565C>T) c.451-45C>T (n.451-45C>T) n.566+1565C>T c.55-45C>T (n.55-45C>T) | gnomAD v4 |
| 1 | g.150750216G>T | CA2573896572 | CTSS | c.628-45C>A (n.628-45C>A) c.400-45C>A (n.400-45C>A) c.355-45C>A (n.355-45C>A) c.478-45C>A (n.478-45C>A) c.627+1565C>A (n.627+1565C>A) c.451-45C>A (n.451-45C>A) n.566+1565C>A c.55-45C>A (n.55-45C>A) | dbSNP gnomAD v4 |
| 1 | g.150750217T>A | CA2647833173 | CTSS | c.628-46A>T (n.628-46A>T) c.400-46A>T (n.400-46A>T) c.355-46A>T (n.355-46A>T) c.478-46A>T (n.478-46A>T) c.627+1564A>T (n.627+1564A>T) c.451-46A>T (n.451-46A>T) n.566+1564A>T c.55-46A>T (n.55-46A>T) | gnomAD v4 |
| 1 | g.150750217T>C | CA526065865 | CTSS | c.628-46A>G (n.628-46A>G) c.400-46A>G (n.400-46A>G) c.355-46A>G (n.355-46A>G) c.478-46A>G (n.478-46A>G) c.627+1564A>G (n.627+1564A>G) c.451-46A>G (n.451-46A>G) n.566+1564A>G c.55-46A>G (n.55-46A>G) | dbSNP gnomAD v2 |
| 1 | g.150750217T= | CA2479293073 | CTSS | c.628-46A= (n.628-46A=) c.400-46A= (n.400-46A=) c.355-46A= (n.355-46A=) c.478-46A= (n.478-46A=) c.627+1564A= (n.627+1564A=) c.451-46A= (n.451-46A=) n.566+1564A= c.55-46A= (n.55-46A=) | |
| 1 | g.150750218A>G | CA2647833174 | CTSS | c.628-47T>C (n.628-47T>C) c.400-47T>C (n.400-47T>C) c.355-47T>C (n.355-47T>C) c.478-47T>C (n.478-47T>C) c.627+1563T>C (n.627+1563T>C) c.451-47T>C (n.451-47T>C) n.566+1563T>C c.55-47T>C (n.55-47T>C) | gnomAD v4 |
| 1 | g.150750218A>T | CA2746083918 | CTSS | c.628-47T>A (n.628-47T>A) c.400-47T>A (n.400-47T>A) c.355-47T>A (n.355-47T>A) c.478-47T>A (n.478-47T>A) c.627+1563T>A (n.627+1563T>A) c.451-47T>A (n.451-47T>A) n.566+1563T>A c.55-47T>A (n.55-47T>A) | |
| 1 | g.150750219T>A | CA2647833175 | CTSS | c.628-48A>T (n.628-48A>T) c.400-48A>T (n.400-48A>T) c.355-48A>T (n.355-48A>T) c.478-48A>T (n.478-48A>T) c.627+1562A>T (n.627+1562A>T) c.451-48A>T (n.451-48A>T) n.566+1562A>T c.55-48A>T (n.55-48A>T) | gnomAD v4 |
| 1 | g.150750220A= | CA2479293074 | CTSS | c.628-49T= (n.628-49T=) c.400-49T= (n.400-49T=) c.355-49T= (n.355-49T=) c.478-49T= (n.478-49T=) c.627+1561T= (n.627+1561T=) c.451-49T= (n.451-49T=) n.566+1561T= c.55-49T= (n.55-49T=) | |
| 1 | g.150750220A>C | CA889257476 | CTSS | c.628-49T>G (n.628-49T>G) c.400-49T>G (n.400-49T>G) c.355-49T>G (n.355-49T>G) c.478-49T>G (n.478-49T>G) c.627+1561T>G (n.627+1561T>G) c.451-49T>G (n.451-49T>G) n.566+1561T>G c.55-49T>G (n.55-49T>G) | dbSNP gnomAD v3 gnomAD v4 |