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 |
|---|---|---|---|---|---|
| 3 | g.122262225G>A | CA354152781 | CASR | c.1190G>A (p.Gly397Glu) c.707G>A (p.Gly236Glu) c.602G>A (p.Gly201Glu) | ClinVar dbSNP |
| 3 | g.122262225G>C | CA354152782 | CASR | c.1190G>C (p.Gly397Ala) c.707G>C (p.Gly236Ala) c.602G>C (p.Gly201Ala) | |
| 3 | g.122262225G= | CA1397873669 | CASR | c.1190G= (p.Gly397=) c.707G= (p.Gly236=) c.602G= (p.Gly201=) | |
| 3 | g.122262225G>T | CA354152783 | CASR | c.1190G>T (p.Gly397Val) c.707G>T (p.Gly236Val) c.602G>T (p.Gly201Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122262226G>A | CA2569609 | CASR | c.1191G>A (p.Gly397=) c.708G>A (p.Gly236=) c.603G>A (p.Gly201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122262226G>C | CA435424657 | CASR | c.1191G>C (p.Gly397=) c.708G>C (p.Gly236=) c.603G>C (p.Gly201=) | |
| 3 | g.122262226G= | CA1397873671 | CASR | c.1191G= (p.Gly397=) c.708G= (p.Gly236=) c.603G= (p.Gly201=) | |
| 3 | g.122262226G>T | CA435424656 | CASR | c.1191G>T (p.Gly397=) c.708G>T (p.Gly236=) c.603G>T (p.Gly201=) | gnomAD v4 |
| 3 | g.122262227G>A | CA216118 | CASR | c.1192G>A (p.Asp398Asn) c.709G>A (p.Asp237Asn) c.604G>A (p.Asp202Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262227G>C | CA354152784 | CASR | c.1192G>C (p.Asp398His) c.709G>C (p.Asp237His) c.604G>C (p.Asp202His) | |
| 3 | g.122262227G= | CA1397873674 | CASR | c.1192G= (p.Asp398=) c.709G= (p.Asp237=) c.604G= (p.Asp202=) | |
| 3 | g.122262227G>T | CA354152785 | CASR | c.1192G>T (p.Asp398Tyr) c.709G>T (p.Asp237Tyr) c.604G>T (p.Asp202Tyr) | ClinVar dbSNP |
| 3 | g.122262228A= | CA1397873680 | CASR | c.1193A= (p.Asp398=) c.710A= (p.Asp237=) c.605A= (p.Asp202=) | |
| 3 | g.122262228A>C | CA354152786 | CASR | c.1193A>C (p.Asp398Ala) c.710A>C (p.Asp237Ala) c.605A>C (p.Asp202Ala) | |
| 3 | g.122262228A>G | CA2569610 | CASR | c.1193A>G (p.Asp398Gly) c.710A>G (p.Asp237Gly) c.605A>G (p.Asp202Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262228A>T | CA354152787 | CASR | c.1193A>T (p.Asp398Val) c.710A>T (p.Asp237Val) c.605A>T (p.Asp202Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262229T>A | CA354152788 | CASR | c.1194T>A (p.Asp398Glu) c.711T>A (p.Asp237Glu) c.606T>A (p.Asp202Glu) | |
| 3 | g.122262229T>C | CA435424658 | CASR | c.1194T>C (p.Asp398=) c.711T>C (p.Asp237=) c.606T>C (p.Asp202=) | |
| 3 | g.122262229T>G | CA354152789 | CASR | c.1194T>G (p.Asp398Glu) c.711T>G (p.Asp237Glu) c.606T>G (p.Asp202Glu) | gnomAD v4 |
| 3 | g.122262230G>A | CA354152790 | CASR | c.1195G>A (p.Glu399Lys) c.712G>A (p.Glu238Lys) c.607G>A (p.Glu203Lys) | |
| 3 | g.122262230G>C | CA354152791 | CASR | c.1195G>C (p.Glu399Gln) c.712G>C (p.Glu238Gln) c.607G>C (p.Glu203Gln) | |
| 3 | g.122262230G>T | CA354152792 | CASR | c.1195G>T (p.Glu399Ter) c.712G>T (p.Glu238Ter) c.607G>T (p.Glu203Ter) | |
| 3 | g.122262231A>C | CA354152793 | CASR | c.1196A>C (p.Glu399Ala) c.713A>C (p.Glu238Ala) c.608A>C (p.Glu203Ala) | |
| 3 | g.122262231A>G | CA354152794 | CASR | c.1196A>G (p.Glu399Gly) c.713A>G (p.Glu238Gly) c.608A>G (p.Glu203Gly) | |
| 3 | g.122262231A>T | CA354152795 | CASR | c.1196A>T (p.Glu399Val) c.713A>T (p.Glu238Val) c.608A>T (p.Glu203Val) | |
| 3 | g.122262232G>A | CA435424663 | CASR | c.1197G>A (p.Glu399=) c.714G>A (p.Glu238=) c.609G>A (p.Glu203=) | |
| 3 | g.122262232G>C | CA354152796 | CASR | c.1197G>C (p.Glu399Asp) c.714G>C (p.Glu238Asp) c.609G>C (p.Glu203Asp) | COSMIC |
| 3 | g.122262232G>T | CA354152797 | CASR | c.1197G>T (p.Glu399Asp) c.714G>T (p.Glu238Asp) c.609G>T (p.Glu203Asp) | |
| 3 | g.122262233A= | CA1397873682 | CASR | c.1198A= (p.Asn400=) c.715A= (p.Asn239=) c.610A= (p.Asn204=) | |
| 3 | g.122262233A>C | CA354152798 | CASR | c.1198A>C (p.Asn400His) c.715A>C (p.Asn239His) c.610A>C (p.Asn204His) | |
| 3 | g.122262233A>G | CA354152799 | CASR | c.1198A>G (p.Asn400Asp) c.715A>G (p.Asn239Asp) c.610A>G (p.Asn204Asp) | ClinVar dbSNP |
| 3 | g.122262233A>T | CA354152800 | CASR | c.1198A>T (p.Asn400Tyr) c.715A>T (p.Asn239Tyr) c.610A>T (p.Asn204Tyr) | ClinVar |
| 3 | g.122262234A= | CA1397873686 | CASR | c.1199A= (p.Asn400=) c.716A= (p.Asn239=) c.611A= (p.Asn204=) | |
| 3 | g.122262234A>C | CA354152801 | CASR | c.1199A>C (p.Asn400Thr) c.716A>C (p.Asn239Thr) c.611A>C (p.Asn204Thr) | |
| 3 | g.122262234A>G | CA354152802 | CASR | c.1199A>G (p.Asn400Ser) c.716A>G (p.Asn239Ser) c.611A>G (p.Asn204Ser) | dbSNP |
| 3 | g.122262234A>T | CA2569611 | CASR | c.1199A>T (p.Asn400Ile) c.716A>T (p.Asn239Ile) c.611A>T (p.Asn204Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262235C>A | CA354152803 | CASR | c.1200C>A (p.Asn400Lys) c.717C>A (p.Asn239Lys) c.612C>A (p.Asn204Lys) | |
| 3 | g.122262235C>G | CA354152804 | CASR | c.1200C>G (p.Asn400Lys) c.717C>G (p.Asn239Lys) c.612C>G (p.Asn204Lys) | |
| 3 | g.122262235C>T | CA435424667 | CASR | c.1200C>T (p.Asn400=) c.717C>T (p.Asn239=) c.612C>T (p.Asn204=) | |
| 3 | g.122262236A>C | CA354152805 | CASR | c.1201A>C (p.Ile401Leu) c.718A>C (p.Ile240Leu) c.613A>C (p.Ile205Leu) | |
| 3 | g.122262236A>G | CA354152807 | CASR | c.1201A>G (p.Ile401Val) c.718A>G (p.Ile240Val) c.613A>G (p.Ile205Val) | |
| 3 | g.122262236A>T | CA354152806 | CASR | c.1201A>T (p.Ile401Phe) c.718A>T (p.Ile240Phe) c.613A>T (p.Ile205Phe) | |
| 3 | g.122262237T>A | CA354152808 | CASR | c.1202T>A (p.Ile401Asn) c.719T>A (p.Ile240Asn) c.614T>A (p.Ile205Asn) | |
| 3 | g.122262237T>C | CA354152809 | CASR | c.1202T>C (p.Ile401Thr) c.719T>C (p.Ile240Thr) c.614T>C (p.Ile205Thr) | |
| 3 | g.122262237T>G | CA354152810 | CASR | c.1202T>G (p.Ile401Ser) c.719T>G (p.Ile240Ser) c.614T>G (p.Ile205Ser) | |
| 3 | g.122262238C>A | CA435424674 | CASR | c.1203C>A (p.Ile401=) c.720C>A (p.Ile240=) c.615C>A (p.Ile205=) | |
| 3 | g.122262238C>G | CA354152811 | CASR | c.1203C>G (p.Ile401Met) c.720C>G (p.Ile240Met) c.615C>G (p.Ile205Met) | |
| 3 | g.122262238C>T | CA435424675 | CASR | c.1203C>T (p.Ile401=) c.720C>T (p.Ile240=) c.615C>T (p.Ile205=) | |
| 3 | g.122262239A>C | CA354152812 | CASR | c.1204A>C (p.Ser402Arg) c.721A>C (p.Ser241Arg) c.616A>C (p.Ser206Arg) | |
| 3 | g.122262239A>G | CA354152813 | CASR | c.1204A>G (p.Ser402Gly) c.721A>G (p.Ser241Gly) c.616A>G (p.Ser206Gly) | ClinVar gnomAD v4 |
| 3 | g.122262239A>T | CA354152814 | CASR | c.1204A>T (p.Ser402Cys) c.721A>T (p.Ser241Cys) c.616A>T (p.Ser206Cys) | |
| 3 | g.122262240G>A | CA354152815 | CASR | c.1205G>A (p.Ser402Asn) c.722G>A (p.Ser241Asn) c.617G>A (p.Ser206Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262240G>C | CA354152816 | CASR | c.1205G>C (p.Ser402Thr) c.722G>C (p.Ser241Thr) c.617G>C (p.Ser206Thr) | |
| 3 | g.122262240G= | CA1397873689 | CASR | c.1205G= (p.Ser402=) c.722G= (p.Ser241=) c.617G= (p.Ser206=) | |
| 3 | g.122262240G>T | CA354152817 | CASR | c.1205G>T (p.Ser402Ile) c.722G>T (p.Ser241Ile) c.617G>T (p.Ser206Ile) | |
| 3 | g.122262241C>A | CA354152818 | CASR | c.1206C>A (p.Ser402Arg) c.723C>A (p.Ser241Arg) c.618C>A (p.Ser206Arg) | |
| 3 | g.122262241C= | CA1397873693 | CASR | c.1206C= (p.Ser402=) c.723C= (p.Ser241=) c.618C= (p.Ser206=) | |
| 3 | g.122262241C>G | CA2569612 | CASR | c.1206C>G (p.Ser402Arg) c.723C>G (p.Ser241Arg) c.618C>G (p.Ser206Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122262241C>T | CA435424678 | CASR | c.1206C>T (p.Ser402=) c.723C>T (p.Ser241=) c.618C>T (p.Ser206=) | gnomAD v4 |
| 3 | g.122262242A= | CA1397873701 | CASR | c.1207A= (p.Ser403=) c.724A= (p.Ser242=) c.619A= (p.Ser207=) | |
| 3 | g.122262242A>C | CA354152820 | CASR | c.1207A>C (p.Ser403Arg) c.724A>C (p.Ser242Arg) c.619A>C (p.Ser207Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262242A>G | CA354152819 | CASR | c.1207A>G (p.Ser403Gly) c.724A>G (p.Ser242Gly) c.619A>G (p.Ser207Gly) | ClinVar |
| 3 | g.122262242A>T | CA2569613 | CASR | c.1207A>T (p.Ser403Cys) c.724A>T (p.Ser242Cys) c.619A>T (p.Ser207Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122262243G>A | CA354152821 | CASR | c.1208G>A (p.Ser403Asn) c.725G>A (p.Ser242Asn) c.620G>A (p.Ser207Asn) | gnomAD v4 |
| 3 | g.122262243G>C | CA354152822 | CASR | c.1208G>C (p.Ser403Thr) c.725G>C (p.Ser242Thr) c.620G>C (p.Ser207Thr) | |
| 3 | g.122262243G>T | CA354152823 | CASR | c.1208G>T (p.Ser403Ile) c.725G>T (p.Ser242Ile) c.620G>T (p.Ser207Ile) | |
| 3 | g.122262244T>A | CA354152824 | CASR | c.1209T>A (p.Ser403Arg) c.726T>A (p.Ser242Arg) c.621T>A (p.Ser207Arg) | |
| 3 | g.122262244T>C | CA216120 | CASR | c.1209T>C (p.Ser403=) c.726T>C (p.Ser242=) c.621T>C (p.Ser207=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122262244T>G | CA354152825 | CASR | c.1209T>G (p.Ser403Arg) c.726T>G (p.Ser242Arg) c.621T>G (p.Ser207Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262244T= | CA1397873708 | CASR | c.1209T= (p.Ser403=) c.726T= (p.Ser242=) c.621T= (p.Ser207=) | |
| 3 | g.122262245G>A | CA354152826 | CASR | c.1210G>A (p.Val404Ile) c.727G>A (p.Val243Ile) c.622G>A (p.Val208Ile) | |
| 3 | g.122262245G>C | CA354152827 | CASR | c.1210G>C (p.Val404Leu) c.727G>C (p.Val243Leu) c.622G>C (p.Val208Leu) | |
| 3 | g.122262245G>T | CA354152828 | CASR | c.1210G>T (p.Val404Phe) c.727G>T (p.Val243Phe) c.622G>T (p.Val208Phe) | |
| 3 | g.122262246T>A | CA354152829 | CASR | c.1211T>A (p.Val404Asp) c.728T>A (p.Val243Asp) c.623T>A (p.Val208Asp) | |
| 3 | g.122262246T>C | CA354152830 | CASR | c.1211T>C (p.Val404Ala) c.728T>C (p.Val243Ala) c.623T>C (p.Val208Ala) | |
| 3 | g.122262246T>G | CA354152831 | CASR | c.1211T>G (p.Val404Gly) c.728T>G (p.Val243Gly) c.623T>G (p.Val208Gly) | ClinVar dbSNP |
| 3 | g.122262246T= | CA1397873713 | CASR | c.1211T= (p.Val404=) c.728T= (p.Val243=) c.623T= (p.Val208=) | |
| 3 | g.122262247C>A | CA435424687 | CASR | c.1212C>A (p.Val404=) c.729C>A (p.Val243=) c.624C>A (p.Val208=) | |
| 3 | g.122262247C= | CA1397873720 | CASR | c.1212C= (p.Val404=) c.729C= (p.Val243=) c.624C= (p.Val208=) | |
| 3 | g.122262247C>G | CA16611297 | CASR | c.1212C>G (p.Val404=) c.729C>G (p.Val243=) c.624C>G (p.Val208=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262247C>T | CA82739001 | CASR | c.1212C>T (p.Val404=) c.729C>T (p.Val243=) c.624C>T (p.Val208=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122262248G>A | CA82739006 | CASR | c.1213G>A (p.Glu405Lys) c.730G>A (p.Glu244Lys) c.625G>A (p.Glu209Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122262248G>C | CA354152833 | CASR | c.1213G>C (p.Glu405Gln) c.730G>C (p.Glu244Gln) c.625G>C (p.Glu209Gln) | |
| 3 | g.122262248G= | CA1397873728 | CASR | c.1213G= (p.Glu405=) c.730G= (p.Glu244=) c.625G= (p.Glu209=) | |
| 3 | g.122262248G>T | CA354152832 | CASR | c.1213G>T (p.Glu405Ter) c.730G>T (p.Glu244Ter) c.625G>T (p.Glu209Ter) | |
| 3 | g.122262249A= | CA1397873732 | CASR | c.1214A= (p.Glu405=) c.731A= (p.Glu244=) c.626A= (p.Glu209=) | |
| 3 | g.122262249A>C | CA354152834 | CASR | c.1214A>C (p.Glu405Ala) c.731A>C (p.Glu244Ala) c.626A>C (p.Glu209Ala) | |
| 3 | g.122262249A>G | CA354152835 | CASR | c.1214A>G (p.Glu405Gly) c.731A>G (p.Glu244Gly) c.626A>G (p.Glu209Gly) | ClinVar dbSNP |
| 3 | g.122262249A>T | CA354152836 | CASR | c.1214A>T (p.Glu405Val) c.731A>T (p.Glu244Val) c.626A>T (p.Glu209Val) | |
| 3 | g.122262250G>A | CA435424691 | CASR | c.1215G>A (p.Glu405=) c.732G>A (p.Glu244=) c.627G>A (p.Glu209=) | |
| 3 | g.122262250G>C | CA354152837 | CASR | c.1215G>C (p.Glu405Asp) c.732G>C (p.Glu244Asp) c.627G>C (p.Glu209Asp) | gnomAD v4 |
| 3 | g.122262250G>T | CA354152838 | CASR | c.1215G>T (p.Glu405Asp) c.732G>T (p.Glu244Asp) c.627G>T (p.Glu209Asp) | |
| 3 | g.122262251A>C | CA354152841 | CASR | c.1216A>C (p.Thr406Pro) c.733A>C (p.Thr245Pro) c.628A>C (p.Thr210Pro) | |
| 3 | g.122262251A>G | CA354152840 | CASR | c.1216A>G (p.Thr406Ala) c.733A>G (p.Thr245Ala) c.628A>G (p.Thr210Ala) | |
| 3 | g.122262251A>T | CA354152839 | CASR | c.1216A>T (p.Thr406Ser) c.733A>T (p.Thr245Ser) c.628A>T (p.Thr210Ser) | |
| 3 | g.122262252C>A | CA354152842 | CASR | c.1217C>A (p.Thr406Asn) c.734C>A (p.Thr245Asn) c.629C>A (p.Thr210Asn) | |
| 3 | g.122262252C>G | CA354152843 | CASR | c.1217C>G (p.Thr406Ser) c.734C>G (p.Thr245Ser) c.629C>G (p.Thr210Ser) | |
| 3 | g.122262252C>T | CA354152844 | CASR | c.1217C>T (p.Thr406Ile) c.734C>T (p.Thr245Ile) c.629C>T (p.Thr210Ile) | |
| 3 | g.122262253C>A | CA435424698 | CASR | c.1218C>A (p.Thr406=) c.735C>A (p.Thr245=) c.630C>A (p.Thr210=) | gnomAD v4 |
| 3 | g.122262253C>G | CA435424697 | CASR | c.1218C>G (p.Thr406=) c.735C>G (p.Thr245=) c.630C>G (p.Thr210=) | ClinVar |
| 3 | g.122262253C>T | CA435424696 | CASR | c.1218C>T (p.Thr406=) c.735C>T (p.Thr245=) c.630C>T (p.Thr210=) | |
| 3 | g.122262253_122262254delinsAG | CA645532163 | CASR | c.1218_1219delinsAG (p.Pro407Ala) c.735_736delinsAG (p.Pro246Ala) c.630_631delinsAG (p.Pro211Ala) | COSMIC |
| 3 | g.122262254C>A | CA354152845 | CASR | c.1219C>A (p.Pro407Thr) c.736C>A (p.Pro246Thr) c.631C>A (p.Pro211Thr) | |
| 3 | g.122262254C= | CA1397873735 | CASR | c.1219C= (p.Pro407=) c.736C= (p.Pro246=) c.631C= (p.Pro211=) | |
| 3 | g.122262254C>G | CA82739012 | CASR | c.1219C>G (p.Pro407Ala) c.736C>G (p.Pro246Ala) c.631C>G (p.Pro211Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122262254C>T | CA354152846 | CASR | c.1219C>T (p.Pro407Ser) c.736C>T (p.Pro246Ser) c.631C>T (p.Pro211Ser) | |
| 3 | g.122262255C>A | CA354152847 | CASR | c.1220C>A (p.Pro407His) c.737C>A (p.Pro246His) c.632C>A (p.Pro211His) | |
| 3 | g.122262255C>G | CA354152849 | CASR | c.1220C>G (p.Pro407Arg) c.737C>G (p.Pro246Arg) c.632C>G (p.Pro211Arg) | gnomAD v4 |
| 3 | g.122262255C>T | CA354152848 | CASR | c.1220C>T (p.Pro407Leu) c.737C>T (p.Pro246Leu) c.632C>T (p.Pro211Leu) | |
| 3 | g.122262256T>A | CA435424705 | CASR | c.1221T>A (p.Pro407=) c.738T>A (p.Pro246=) c.633T>A (p.Pro211=) | |
| 3 | g.122262256T>C | CA435424706 | CASR | c.1221T>C (p.Pro407=) c.738T>C (p.Pro246=) c.633T>C (p.Pro211=) | |
| 3 | g.122262256T>G | CA435424708 | CASR | c.1221T>G (p.Pro407=) c.738T>G (p.Pro246=) c.633T>G (p.Pro211=) | |
| 3 | g.122262257T>A | CA354152850 | CASR | c.1222T>A (p.Tyr408Asn) c.739T>A (p.Tyr247Asn) c.634T>A (p.Tyr212Asn) | |
| 3 | g.122262257T>C | CA354152851 | CASR | c.1222T>C (p.Tyr408His) c.739T>C (p.Tyr247His) c.634T>C (p.Tyr212His) | |
| 3 | g.122262257T>G | CA354152852 | CASR | c.1222T>G (p.Tyr408Asp) c.739T>G (p.Tyr247Asp) c.634T>G (p.Tyr212Asp) | |
| 3 | g.122262258A= | CA1397873741 | CASR | c.1223A= (p.Tyr408=) c.740A= (p.Tyr247=) c.635A= (p.Tyr212=) | |
| 3 | g.122262258A>C | CA354152853 | CASR | c.1223A>C (p.Tyr408Ser) c.740A>C (p.Tyr247Ser) c.635A>C (p.Tyr212Ser) | |
| 3 | g.122262258A>G | CA354152854 | CASR | c.1223A>G (p.Tyr408Cys) c.740A>G (p.Tyr247Cys) c.635A>G (p.Tyr212Cys) | ClinVar dbSNP |
| 3 | g.122262258A>T | CA354152855 | CASR | c.1223A>T (p.Tyr408Phe) c.740A>T (p.Tyr247Phe) c.635A>T (p.Tyr212Phe) | |
| 3 | g.122262259C>A | CA354152856 | CASR | c.1224C>A (p.Tyr408Ter) c.741C>A (p.Tyr247Ter) c.636C>A (p.Tyr212Ter) | |
| 3 | g.122262259C>G | CA354152857 | CASR | c.1224C>G (p.Tyr408Ter) c.741C>G (p.Tyr247Ter) c.636C>G (p.Tyr212Ter) | |
| 3 | g.122262259C>T | CA435424712 | CASR | c.1224C>T (p.Tyr408=) c.741C>T (p.Tyr247=) c.636C>T (p.Tyr212=) | ClinVar dbSNP |
| 3 | g.122262260A= | CA1397873744 | CASR | c.1225A= (p.Ile409=) c.742A= (p.Ile248=) c.637A= (p.Ile213=) | |
| 3 | g.122262260A>C | CA354152858 | CASR | c.1225A>C (p.Ile409Leu) c.742A>C (p.Ile248Leu) c.637A>C (p.Ile213Leu) | ClinVar gnomAD v4 |
| 3 | g.122262260A>G | CA354152859 | CASR | c.1225A>G (p.Ile409Val) c.742A>G (p.Ile248Val) c.637A>G (p.Ile213Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262260A>T | CA354152860 | CASR | c.1225A>T (p.Ile409Leu) c.742A>T (p.Ile248Leu) c.637A>T (p.Ile213Leu) | |
| 3 | g.122262261T>A | CA354152861 | CASR | c.1226T>A (p.Ile409Lys) c.743T>A (p.Ile248Lys) c.638T>A (p.Ile213Lys) | |
| 3 | g.122262261T>C | CA354152863 | CASR | c.1226T>C (p.Ile409Thr) c.743T>C (p.Ile248Thr) c.638T>C (p.Ile213Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122262261T>G | CA354152862 | CASR | c.1226T>G (p.Ile409Arg) c.743T>G (p.Ile248Arg) c.638T>G (p.Ile213Arg) | |
| 3 | g.122262261T= | CA1397873751 | CASR | c.1226T= (p.Ile409=) c.743T= (p.Ile248=) c.638T= (p.Ile213=) | |
| 3 | g.122262262A>C | CA435424718 | CASR | c.1227A>C (p.Ile409=) c.744A>C (p.Ile248=) c.639A>C (p.Ile213=) | |
| 3 | g.122262262A>G | CA354152864 | CASR | c.1227A>G (p.Ile409Met) c.744A>G (p.Ile248Met) c.639A>G (p.Ile213Met) | |
| 3 | g.122262262A>T | CA435424719 | CASR | c.1227A>T (p.Ile409=) c.744A>T (p.Ile248=) c.639A>T (p.Ile213=) | |
| 3 | g.122262263G>A | CA354152866 | CASR | c.1228G>A (p.Asp410Asn) c.745G>A (p.Asp249Asn) c.640G>A (p.Asp214Asn) | |
| 3 | g.122262263G>C | CA354152865 | CASR | c.1228G>C (p.Asp410His) c.745G>C (p.Asp249His) c.640G>C (p.Asp214His) | |
| 3 | g.122262263G>T | CA354152867 | CASR | c.1228G>T (p.Asp410Tyr) c.745G>T (p.Asp249Tyr) c.640G>T (p.Asp214Tyr) | gnomAD v4 |
| 3 | g.122262264A>C | CA354152868 | CASR | c.1229A>C (p.Asp410Ala) c.746A>C (p.Asp249Ala) c.641A>C (p.Asp214Ala) | |
| 3 | g.122262264A>G | CA354152869 | CASR | c.1229A>G (p.Asp410Gly) c.746A>G (p.Asp249Gly) c.641A>G (p.Asp214Gly) | |
| 3 | g.122262264A>T | CA354152870 | CASR | c.1229A>T (p.Asp410Val) c.746A>T (p.Asp249Val) c.641A>T (p.Asp214Val) | |
| 3 | g.122262265T>A | CA354152871 | CASR | c.1230T>A (p.Asp410Glu) c.747T>A (p.Asp249Glu) c.642T>A (p.Asp214Glu) | |
| 3 | g.122262265T>C | CA435424725 | CASR | c.1230T>C (p.Asp410=) c.747T>C (p.Asp249=) c.642T>C (p.Asp214=) | |
| 3 | g.122262265T>G | CA354152872 | CASR | c.1230T>G (p.Asp410Glu) c.747T>G (p.Asp249Glu) c.642T>G (p.Asp214Glu) | |
| 3 | g.122262266T>A | CA354152873 | CASR | c.1231T>A (p.Tyr411Asn) c.748T>A (p.Tyr250Asn) c.643T>A (p.Tyr215Asn) | ClinVar |
| 3 | g.122262266T>C | CA354152874 | CASR | c.1231T>C (p.Tyr411His) c.748T>C (p.Tyr250His) c.643T>C (p.Tyr215His) | |
| 3 | g.122262266T>G | CA354152875 | CASR | c.1231T>G (p.Tyr411Asp) c.748T>G (p.Tyr250Asp) c.643T>G (p.Tyr215Asp) | ClinVar |
| 3 | g.122262267A>C | CA354152876 | CASR | c.1232A>C (p.Tyr411Ser) c.749A>C (p.Tyr250Ser) c.644A>C (p.Tyr215Ser) | ClinVar |
| 3 | g.122262267A>G | CA354152877 | CASR | c.1232A>G (p.Tyr411Cys) c.749A>G (p.Tyr250Cys) c.644A>G (p.Tyr215Cys) | ClinVar |
| 3 | g.122262267A>T | CA354152878 | CASR | c.1232A>T (p.Tyr411Phe) c.749A>T (p.Tyr250Phe) c.644A>T (p.Tyr215Phe) | |
| 3 | g.122262268C>A | CA354152879 | CASR | c.1233C>A (p.Tyr411Ter) c.750C>A (p.Tyr250Ter) c.645C>A (p.Tyr215Ter) | |
| 3 | g.122262268C>G | CA354152880 | CASR | c.1233C>G (p.Tyr411Ter) c.750C>G (p.Tyr250Ter) c.645C>G (p.Tyr215Ter) | |
| 3 | g.122262268C>T | CA435424730 | CASR | c.1233C>T (p.Tyr411=) c.750C>T (p.Tyr250=) c.645C>T (p.Tyr215=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262269A= | CA1397873755 | CASR | c.1234A= (p.Thr412=) c.751A= (p.Thr251=) c.646A= (p.Thr216=) | |
| 3 | g.122262269A>C | CA354152881 | CASR | c.1234A>C (p.Thr412Pro) c.751A>C (p.Thr251Pro) c.646A>C (p.Thr216Pro) | |
| 3 | g.122262269A>G | CA354152883 | CASR | c.1234A>G (p.Thr412Ala) c.751A>G (p.Thr251Ala) c.646A>G (p.Thr216Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262269A>T | CA354152882 | CASR | c.1234A>T (p.Thr412Ser) c.751A>T (p.Thr251Ser) c.646A>T (p.Thr216Ser) | |
| 3 | g.122262270C>A | CA354152884 | CASR | c.1235C>A (p.Thr412Lys) c.752C>A (p.Thr251Lys) c.647C>A (p.Thr216Lys) | |
| 3 | g.122262270C= | CA1397873758 | CASR | c.1235C= (p.Thr412=) c.752C= (p.Thr251=) c.647C= (p.Thr216=) | |
| 3 | g.122262270C>G | CA354152885 | CASR | c.1235C>G (p.Thr412Arg) c.752C>G (p.Thr251Arg) c.647C>G (p.Thr216Arg) | |
| 3 | g.122262270C>T | CA354152886 | CASR | c.1235C>T (p.Thr412Met) c.752C>T (p.Thr251Met) c.647C>T (p.Thr216Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262271G>A | CA435424731 | CASR | c.1236G>A (p.Thr412=) c.753G>A (p.Thr251=) c.648G>A (p.Thr216=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262271G>C | CA435424734 | CASR | c.1236G>C (p.Thr412=) c.753G>C (p.Thr251=) c.648G>C (p.Thr216=) | ClinVar |
| 3 | g.122262271G= | CA1397873766 | CASR | c.1236G= (p.Thr412=) c.753G= (p.Thr251=) c.648G= (p.Thr216=) | |
| 3 | g.122262271G>T | CA82739016 | CASR | c.1236G>T (p.Thr412=) c.753G>T (p.Thr251=) c.648G>T (p.Thr216=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262272C>A | CA354152887 | CASR | c.1237C>A (p.His413Asn) c.754C>A (p.His252Asn) c.649C>A (p.His217Asn) | |
| 3 | g.122262272C>G | CA354152888 | CASR | c.1237C>G (p.His413Asp) c.754C>G (p.His252Asp) c.649C>G (p.His217Asp) | |
| 3 | g.122262272C>T | CA354152889 | CASR | c.1237C>T (p.His413Tyr) c.754C>T (p.His252Tyr) c.649C>T (p.His217Tyr) | ClinVar dbSNP |
| 3 | g.122262273A= | CA1397873773 | CASR | c.1238A= (p.His413=) c.755A= (p.His252=) c.650A= (p.His217=) | |
| 3 | g.122262273A>C | CA354152890 | CASR | c.1238A>C (p.His413Pro) c.755A>C (p.His252Pro) c.650A>C (p.His217Pro) | |
| 3 | g.122262273A>G | CA354152891 | CASR | c.1238A>G (p.His413Arg) c.755A>G (p.His252Arg) c.650A>G (p.His217Arg) | gnomAD v4 |
| 3 | g.122262273A>T | CA354152892 | CASR | c.1238A>T (p.His413Leu) c.755A>T (p.His252Leu) c.650A>T (p.His217Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262274T>A | CA354152894 | CASR | c.1239T>A (p.His413Gln) c.756T>A (p.His252Gln) c.651T>A (p.His217Gln) | |
| 3 | g.122262274T>C | CA435424736 | CASR | c.1239T>C (p.His413=) c.756T>C (p.His252=) c.651T>C (p.His217=) | |
| 3 | g.122262274T>G | CA354152893 | CASR | c.1239T>G (p.His413Gln) c.756T>G (p.His252Gln) c.651T>G (p.His217Gln) | |
| 3 | g.122262275T>A | CA354152895 | CASR | c.1240T>A (p.Leu414Ile) c.757T>A (p.Leu253Ile) c.652T>A (p.Leu218Ile) | |
| 3 | g.122262275T>C | CA435424737 | CASR | c.1240T>C (p.Leu414=) c.757T>C (p.Leu253=) c.652T>C (p.Leu218=) | |
| 3 | g.122262275T>G | CA354152896 | CASR | c.1240T>G (p.Leu414Val) c.757T>G (p.Leu253Val) c.652T>G (p.Leu218Val) | |
| 3 | g.122262276T>A | CA354152897 | CASR | c.1241T>A (p.Leu414Ter) c.758T>A (p.Leu253Ter) c.653T>A (p.Leu218Ter) | |
| 3 | g.122262276T>C | CA354152898 | CASR | c.1241T>C (p.Leu414Ser) c.758T>C (p.Leu253Ser) c.653T>C (p.Leu218Ser) | |
| 3 | g.122262276T>G | CA354152899 | CASR | c.1241T>G (p.Leu414Ter) c.758T>G (p.Leu253Ter) c.653T>G (p.Leu218Ter) | |
| 3 | g.122262277A>C | CA354152900 | CASR | c.1242A>C (p.Leu414Phe) c.759A>C (p.Leu253Phe) c.654A>C (p.Leu218Phe) | |
| 3 | g.122262277A>G | CA435424742 | CASR | c.1242A>G (p.Leu414=) c.759A>G (p.Leu253=) c.654A>G (p.Leu218=) | |
| 3 | g.122262277A>T | CA354152901 | CASR | c.1242A>T (p.Leu414Phe) c.759A>T (p.Leu253Phe) c.654A>T (p.Leu218Phe) | |
| 3 | g.122262278C>A | CA435424744 | CASR | c.1243C>A (p.Arg415=) c.760C>A (p.Arg254=) c.655C>A (p.Arg219=) | |
| 3 | g.122262278C= | CA1397873778 | CASR | c.1243C= (p.Arg415=) c.760C= (p.Arg254=) c.655C= (p.Arg219=) | |
| 3 | g.122262278C>G | CA354152902 | CASR | c.1243C>G (p.Arg415Gly) c.760C>G (p.Arg254Gly) c.655C>G (p.Arg219Gly) | |
| 3 | g.122262278C>T | CA354152903 | CASR | c.1243C>T (p.Arg415Trp) c.760C>T (p.Arg254Trp) c.655C>T (p.Arg219Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122262279G>A | CA213561 | CASR | c.1244G>A (p.Arg415Gln) c.761G>A (p.Arg254Gln) c.656G>A (p.Arg219Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122262279G>C | CA354152904 | CASR | c.1244G>C (p.Arg415Pro) c.761G>C (p.Arg254Pro) c.656G>C (p.Arg219Pro) | |
| 3 | g.122262279G= | CA1397873783 | CASR | c.1244G= (p.Arg415=) c.761G= (p.Arg254=) c.656G= (p.Arg219=) | |
| 3 | g.122262279G>T | CA354152905 | CASR | c.1244G>T (p.Arg415Leu) c.761G>T (p.Arg254Leu) c.656G>T (p.Arg219Leu) | |
| 3 | g.122262280G>A | CA435424749 | CASR | c.1245G>A (p.Arg415=) c.762G>A (p.Arg254=) c.657G>A (p.Arg219=) | |
| 3 | g.122262280G>C | CA435424752 | CASR | c.1245G>C (p.Arg415=) c.762G>C (p.Arg254=) c.657G>C (p.Arg219=) | |
| 3 | g.122262280G>T | CA435424754 | CASR | c.1245G>T (p.Arg415=) c.762G>T (p.Arg254=) c.657G>T (p.Arg219=) | |
| 3 | g.122262281A>C | CA354152907 | CASR | c.1246A>C (p.Ile416Leu) c.763A>C (p.Ile255Leu) c.658A>C (p.Ile220Leu) | |
| 3 | g.122262281A>G | CA354152908 | CASR | c.1246A>G (p.Ile416Val) c.763A>G (p.Ile255Val) c.658A>G (p.Ile220Val) | |
| 3 | g.122262281A>T | CA354152906 | CASR | c.1246A>T (p.Ile416Leu) c.763A>T (p.Ile255Leu) c.658A>T (p.Ile220Leu) | |
| 3 | g.122262282T>A | CA354152909 | CASR | c.1247T>A (p.Ile416Lys) c.764T>A (p.Ile255Lys) c.659T>A (p.Ile220Lys) | |
| 3 | g.122262282T>C | CA354152910 | CASR | c.1247T>C (p.Ile416Thr) c.764T>C (p.Ile255Thr) c.659T>C (p.Ile220Thr) | |
| 3 | g.122262282T>G | CA354152911 | CASR | c.1247T>G (p.Ile416Arg) c.764T>G (p.Ile255Arg) c.659T>G (p.Ile220Arg) | |
| 3 | g.122262283A= | CA1397873791 | CASR | c.1248A= (p.Ile416=) c.765A= (p.Ile255=) c.660A= (p.Ile220=) | |
| 3 | g.122262283A>C | CA435424759 | CASR | c.1248A>C (p.Ile416=) c.765A>C (p.Ile255=) c.660A>C (p.Ile220=) | dbSNP gnomAD v2 |
| 3 | g.122262283A>G | CA354152912 | CASR | c.1248A>G (p.Ile416Met) c.765A>G (p.Ile255Met) c.660A>G (p.Ile220Met) | |
| 3 | g.122262283A>T | CA435424762 | CASR | c.1248A>T (p.Ile416=) c.765A>T (p.Ile255=) c.660A>T (p.Ile220=) | |
| 3 | g.122262284T>A | CA354152915 | CASR | c.1249T>A (p.Ser417Thr) c.766T>A (p.Ser256Thr) c.661T>A (p.Ser221Thr) | ClinVar |
| 3 | g.122262284T>C | CA354152914 | CASR | c.1249T>C (p.Ser417Pro) c.766T>C (p.Ser256Pro) c.661T>C (p.Ser221Pro) | |
| 3 | g.122262284T>G | CA354152913 | CASR | c.1249T>G (p.Ser417Ala) c.766T>G (p.Ser256Ala) c.661T>G (p.Ser221Ala) | |
| 3 | g.122262285C>A | CA354152916 | CASR | c.1250C>A (p.Ser417Tyr) c.767C>A (p.Ser256Tyr) c.662C>A (p.Ser221Tyr) | |
| 3 | g.122262285C= | CA1397873797 | CASR | c.1250C= (p.Ser417=) c.767C= (p.Ser256=) c.662C= (p.Ser221=) | |
| 3 | g.122262285C>G | CA354152917 | CASR | c.1250C>G (p.Ser417Cys) c.767C>G (p.Ser256Cys) c.662C>G (p.Ser221Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262285C>T | CA354152918 | CASR | c.1250C>T (p.Ser417Phe) c.767C>T (p.Ser256Phe) c.662C>T (p.Ser221Phe) | COSMIC |
| 3 | g.122262286C>A | CA435424771 | CASR | c.1251C>A (p.Ser417=) c.768C>A (p.Ser256=) c.663C>A (p.Ser221=) | |
| 3 | g.122262286C>G | CA435424773 | CASR | c.1251C>G (p.Ser417=) c.768C>G (p.Ser256=) c.663C>G (p.Ser221=) | |
| 3 | g.122262286C>T | CA435424774 | CASR | c.1251C>T (p.Ser417=) c.768C>T (p.Ser256=) c.663C>T (p.Ser221=) | ClinVar dbSNP |
| 3 | g.122262287T>A | CA354152919 | CASR | c.1252T>A (p.Tyr418Asn) c.769T>A (p.Tyr257Asn) c.664T>A (p.Tyr222Asn) | |
| 3 | g.122262287T>C | CA354152920 | CASR | c.1252T>C (p.Tyr418His) c.769T>C (p.Tyr257His) c.664T>C (p.Tyr222His) | |
| 3 | g.122262287T>G | CA354152921 | CASR | c.1252T>G (p.Tyr418Asp) c.769T>G (p.Tyr257Asp) c.664T>G (p.Tyr222Asp) | |
| 3 | g.122262288A>C | CA354152924 | CASR | c.1253A>C (p.Tyr418Ser) c.770A>C (p.Tyr257Ser) c.665A>C (p.Tyr222Ser) | |
| 3 | g.122262288A>G | CA354152923 | CASR | c.1253A>G (p.Tyr418Cys) c.770A>G (p.Tyr257Cys) c.665A>G (p.Tyr222Cys) | |
| 3 | g.122262288A>T | CA354152922 | CASR | c.1253A>T (p.Tyr418Phe) c.770A>T (p.Tyr257Phe) c.665A>T (p.Tyr222Phe) | |
| 3 | g.122262289C>A | CA354152925 | CASR | c.1254C>A (p.Tyr418Ter) c.771C>A (p.Tyr257Ter) c.666C>A (p.Tyr222Ter) | |
| 3 | g.122262289C= | CA1397873800 | CASR | c.1254C= (p.Tyr418=) c.771C= (p.Tyr257=) c.666C= (p.Tyr222=) | |
| 3 | g.122262289C>G | CA354152926 | CASR | c.1254C>G (p.Tyr418Ter) c.771C>G (p.Tyr257Ter) c.666C>G (p.Tyr222Ter) | |
| 3 | g.122262289C>T | CA435424779 | CASR | c.1254C>T (p.Tyr418=) c.771C>T (p.Tyr257=) c.666C>T (p.Tyr222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122262290A>C | CA354152927 | CASR | c.1255A>C (p.Asn419His) c.772A>C (p.Asn258His) c.667A>C (p.Asn223His) | |
| 3 | g.122262290A>G | CA354152928 | CASR | c.1255A>G (p.Asn419Asp) c.772A>G (p.Asn258Asp) c.667A>G (p.Asn223Asp) | |
| 3 | g.122262290A>T | CA354152929 | CASR | c.1255A>T (p.Asn419Tyr) c.772A>T (p.Asn258Tyr) c.667A>T (p.Asn223Tyr) | |
| 3 | g.122262291A>C | CA354152930 | CASR | c.1256A>C (p.Asn419Thr) c.773A>C (p.Asn258Thr) c.668A>C (p.Asn223Thr) | |
| 3 | g.122262291A>G | CA354152931 | CASR | c.1256A>G (p.Asn419Ser) c.773A>G (p.Asn258Ser) c.668A>G (p.Asn223Ser) | |
| 3 | g.122262291A>T | CA354152932 | CASR | c.1256A>T (p.Asn419Ile) c.773A>T (p.Asn258Ile) c.668A>T (p.Asn223Ile) | |
| 3 | g.122262292T>A | CA354152934 | CASR | c.1257T>A (p.Asn419Lys) c.774T>A (p.Asn258Lys) c.669T>A (p.Asn223Lys) | |
| 3 | g.122262292T>C | CA435424784 | CASR | c.1257T>C (p.Asn419=) c.774T>C (p.Asn258=) c.669T>C (p.Asn223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122262292T>G | CA354152933 | CASR | c.1257T>G (p.Asn419Lys) c.774T>G (p.Asn258Lys) c.669T>G (p.Asn223Lys) | |
| 3 | g.122262292T= | CA1397873804 | CASR | c.1257T= (p.Asn419=) c.774T= (p.Asn258=) c.669T= (p.Asn223=) | |
| 3 | g.122262293G>A | CA354152935 | CASR | c.1258G>A (p.Val420Met) c.775G>A (p.Val259Met) c.670G>A (p.Val224Met) | ClinVar dbSNP |
| 3 | g.122262293G>C | CA354152936 | CASR | c.1258G>C (p.Val420Leu) c.775G>C (p.Val259Leu) c.670G>C (p.Val224Leu) | |
| 3 | g.122262293G>T | CA354152937 | CASR | c.1258G>T (p.Val420Leu) c.775G>T (p.Val259Leu) c.670G>T (p.Val224Leu) | |
| 3 | g.122262294T>A | CA354152938 | CASR | c.1259T>A (p.Val420Glu) c.776T>A (p.Val259Glu) c.671T>A (p.Val224Glu) | ClinVar |
| 3 | g.122262294T>C | CA354152939 | CASR | c.1259T>C (p.Val420Ala) c.776T>C (p.Val259Ala) c.671T>C (p.Val224Ala) | |
| 3 | g.122262294T>G | CA354152940 | CASR | c.1259T>G (p.Val420Gly) c.776T>G (p.Val259Gly) c.671T>G (p.Val224Gly) | |
| 3 | g.122262295G>A | CA435424793 | CASR | c.1260G>A (p.Val420=) c.777G>A (p.Val259=) c.672G>A (p.Val224=) | ClinVar |
| 3 | g.122262295G>C | CA435424789 | CASR | c.1260G>C (p.Val420=) c.777G>C (p.Val259=) c.672G>C (p.Val224=) | dbSNP |
| 3 | g.122262295G= | CA1397873807 | CASR | c.1260G= (p.Val420=) c.777G= (p.Val259=) c.672G= (p.Val224=) | |
| 3 | g.122262295G>T | CA435424790 | CASR | c.1260G>T (p.Val420=) c.777G>T (p.Val259=) c.672G>T (p.Val224=) | dbSNP |
| 3 | g.122262296T>A | CA354152941 | CASR | c.1261T>A (p.Tyr421Asn) c.778T>A (p.Tyr260Asn) c.673T>A (p.Tyr225Asn) | |
| 3 | g.122262296T>C | CA354152943 | CASR | c.1261T>C (p.Tyr421His) c.778T>C (p.Tyr260His) c.673T>C (p.Tyr225His) | |
| 3 | g.122262296T>G | CA354152942 | CASR | c.1261T>G (p.Tyr421Asp) c.778T>G (p.Tyr260Asp) c.673T>G (p.Tyr225Asp) | |
| 3 | g.122262297A>C | CA354152944 | CASR | c.1262A>C (p.Tyr421Ser) c.779A>C (p.Tyr260Ser) c.674A>C (p.Tyr225Ser) | |
| 3 | g.122262297A>G | CA354152945 | CASR | c.1262A>G (p.Tyr421Cys) c.779A>G (p.Tyr260Cys) c.674A>G (p.Tyr225Cys) | ClinVar dbSNP |
| 3 | g.122262297A>T | CA354152946 | CASR | c.1262A>T (p.Tyr421Phe) c.779A>T (p.Tyr260Phe) c.674A>T (p.Tyr225Phe) | |
| 3 | g.122262298C>A | CA354152947 | CASR | c.1263C>A (p.Tyr421Ter) c.780C>A (p.Tyr260Ter) c.675C>A (p.Tyr225Ter) | |
| 3 | g.122262298C>G | CA354152948 | CASR | c.1263C>G (p.Tyr421Ter) c.780C>G (p.Tyr260Ter) c.675C>G (p.Tyr225Ter) | |
| 3 | g.122262298C>T | CA435424800 | CASR | c.1263C>T (p.Tyr421=) c.780C>T (p.Tyr260=) c.675C>T (p.Tyr225=) | |
| 3 | g.122262299T>A | CA354152949 | CASR | c.1264T>A (p.Leu422Ile) c.781T>A (p.Leu261Ile) c.676T>A (p.Leu226Ile) | |
| 3 | g.122262299T>C | CA435424801 | CASR | c.1264T>C (p.Leu422=) c.781T>C (p.Leu261=) c.676T>C (p.Leu226=) | dbSNP |
| 3 | g.122262299T>G | CA354152950 | CASR | c.1264T>G (p.Leu422Val) c.781T>G (p.Leu261Val) c.676T>G (p.Leu226Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262299T= | CA1397873813 | CASR | c.1264T= (p.Leu422=) c.781T= (p.Leu261=) c.676T= (p.Leu226=) | |
| 3 | g.122262300T>A | CA354152951 | CASR | c.1265T>A (p.Leu422Ter) c.782T>A (p.Leu261Ter) c.677T>A (p.Leu226Ter) | |
| 3 | g.122262300T>C | CA354152952 | CASR | c.1265T>C (p.Leu422Ser) c.782T>C (p.Leu261Ser) c.677T>C (p.Leu226Ser) | |
| 3 | g.122262300T>G | CA354152953 | CASR | c.1265T>G (p.Leu422Ter) c.782T>G (p.Leu261Ter) c.677T>G (p.Leu226Ter) | |
| 3 | g.122262300_122262303delinsTAGC | CA1397873816 | CASR | c.1265_1268delinsTAGC (p.Leu422=) c.782_785delinsTAGC (p.Leu261=) c.677_680delinsTAGC (p.Leu226=) | |
| 3 | g.122262301A>C | CA354152955 | CASR | c.1266A>C (p.Leu422Phe) c.783A>C (p.Leu261Phe) c.678A>C (p.Leu226Phe) | |
| 3 | g.122262301A>G | CA435424804 | CASR | c.1266A>G (p.Leu422=) c.783A>G (p.Leu261=) c.678A>G (p.Leu226=) | gnomAD v4 |
| 3 | g.122262301A>T | CA354152954 | CASR | c.1266A>T (p.Leu422Phe) c.783A>T (p.Leu261Phe) c.678A>T (p.Leu226Phe) | |
| 3 | g.122262303_122262305del | CA2569614 | CASR | c.1268_1270del (p.Ala423del) c.785_787del (p.Ala262del) c.680_682del (p.Ala227del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122262302G>A | CA354152956 | CASR | c.1267G>A (p.Ala423Thr) c.784G>A (p.Ala262Thr) c.679G>A (p.Ala227Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262302G>C | CA354152957 | CASR | c.1267G>C (p.Ala423Pro) c.784G>C (p.Ala262Pro) c.679G>C (p.Ala227Pro) | |
| 3 | g.122262302G= | CA1397873822 | CASR | c.1267G= (p.Ala423=) c.784G= (p.Ala262=) c.679G= (p.Ala227=) | |
| 3 | g.122262302G>T | CA354152958 | CASR | c.1267G>T (p.Ala423Ser) c.784G>T (p.Ala262Ser) c.679G>T (p.Ala227Ser) | |
| 3 | g.122262302_122262303delinsAA | CA2586972809 | CASR | c.1267_1268delinsAA (p.Ala423Lys) c.784_785delinsAA (p.Ala262Lys) c.679_680delinsAA (p.Ala227Lys) | |
| 3 | g.122262303C>A | CA354152959 | CASR | c.1268C>A (p.Ala423Glu) c.785C>A (p.Ala262Glu) c.680C>A (p.Ala227Glu) | ClinVar dbSNP |
| 3 | g.122262303C>G | CA354152960 | CASR | c.1268C>G (p.Ala423Gly) c.785C>G (p.Ala262Gly) c.680C>G (p.Ala227Gly) | |
| 3 | g.122262303C>T | CA354152961 | CASR | c.1268C>T (p.Ala423Val) c.785C>T (p.Ala262Val) c.680C>T (p.Ala227Val) | gnomAD v4 |
| 3 | g.122262304A>C | CA435424812 | CASR | c.1269A>C (p.Ala423=) c.786A>C (p.Ala262=) c.681A>C (p.Ala227=) | |
| 3 | g.122262304A>G | CA435424813 | CASR | c.1269A>G (p.Ala423=) c.786A>G (p.Ala262=) c.681A>G (p.Ala227=) | ClinVar |
| 3 | g.122262304A>T | CA435424814 | CASR | c.1269A>T (p.Ala423=) c.786A>T (p.Ala262=) c.681A>T (p.Ala227=) | |
| 3 | g.122262305G>A | CA354152962 | CASR | c.1270G>A (p.Val424Ile) c.787G>A (p.Val263Ile) c.682G>A (p.Val228Ile) | COSMIC |
| 3 | g.122262305G>C | CA354152963 | CASR | c.1270G>C (p.Val424Leu) c.787G>C (p.Val263Leu) c.682G>C (p.Val228Leu) | |
| 3 | g.122262305G>T | CA354152964 | CASR | c.1270G>T (p.Val424Phe) c.787G>T (p.Val263Phe) c.682G>T (p.Val228Phe) | |
| 3 | g.122262306T>A | CA354152965 | CASR | c.1271T>A (p.Val424Asp) c.788T>A (p.Val263Asp) c.683T>A (p.Val228Asp) | |
| 3 | g.122262306T>C | CA354152966 | CASR | c.1271T>C (p.Val424Ala) c.788T>C (p.Val263Ala) c.683T>C (p.Val228Ala) | |
| 3 | g.122262306T>G | CA354152967 | CASR | c.1271T>G (p.Val424Gly) c.788T>G (p.Val263Gly) c.683T>G (p.Val228Gly) | |
| 3 | g.122262307C>A | CA435424818 | CASR | c.1272C>A (p.Val424=) c.789C>A (p.Val263=) c.684C>A (p.Val228=) | |
| 3 | g.122262307C= | CA1397873824 | CASR | c.1272C= (p.Val424=) c.789C= (p.Val263=) c.684C= (p.Val228=) | |
| 3 | g.122262307C>G | CA435424819 | CASR | c.1272C>G (p.Val424=) c.789C>G (p.Val263=) c.684C>G (p.Val228=) | |
| 3 | g.122262307C>T | CA435424820 | CASR | c.1272C>T (p.Val424=) c.789C>T (p.Val263=) c.684C>T (p.Val228=) | dbSNP |
| 3 | g.122262308T>A | CA354152970 | CASR | c.1273T>A (p.Tyr425Asn) c.790T>A (p.Tyr264Asn) c.685T>A (p.Tyr229Asn) | |
| 3 | g.122262308T>C | CA354152969 | CASR | c.1273T>C (p.Tyr425His) c.790T>C (p.Tyr264His) c.685T>C (p.Tyr229His) | |
| 3 | g.122262308T>G | CA354152968 | CASR | c.1273T>G (p.Tyr425Asp) c.790T>G (p.Tyr264Asp) c.685T>G (p.Tyr229Asp) | |
| 3 | g.122262309A>C | CA354152971 | CASR | c.1274A>C (p.Tyr425Ser) c.791A>C (p.Tyr264Ser) c.686A>C (p.Tyr229Ser) | |
| 3 | g.122262309A>G | CA354152972 | CASR | c.1274A>G (p.Tyr425Cys) c.791A>G (p.Tyr264Cys) c.686A>G (p.Tyr229Cys) | |
| 3 | g.122262309A>T | CA354152973 | CASR | c.1274A>T (p.Tyr425Phe) c.791A>T (p.Tyr264Phe) c.686A>T (p.Tyr229Phe) | |
| 3 | g.122262310C>A | CA354152974 | CASR | c.1275C>A (p.Tyr425Ter) c.792C>A (p.Tyr264Ter) c.687C>A (p.Tyr229Ter) | |
| 3 | g.122262310C>G | CA354152975 | CASR | c.1275C>G (p.Tyr425Ter) c.792C>G (p.Tyr264Ter) c.687C>G (p.Tyr229Ter) | |
| 3 | g.122262310C>T | CA435424829 | CASR | c.1275C>T (p.Tyr425=) c.792C>T (p.Tyr264=) c.687C>T (p.Tyr229=) | |
| 3 | g.122262311T>A | CA354152976 | CASR | c.1276T>A (p.Ser426Thr) c.793T>A (p.Ser265Thr) c.688T>A (p.Ser230Thr) | |
| 3 | g.122262311T>C | CA354152977 | CASR | c.1276T>C (p.Ser426Pro) c.793T>C (p.Ser265Pro) c.688T>C (p.Ser230Pro) | |
| 3 | g.122262311T>G | CA354152978 | CASR | c.1276T>G (p.Ser426Ala) c.793T>G (p.Ser265Ala) c.688T>G (p.Ser230Ala) | |
| 3 | g.122262312C>A | CA354152979 | CASR | c.1277C>A (p.Ser426Tyr) c.794C>A (p.Ser265Tyr) c.689C>A (p.Ser230Tyr) | |
| 3 | g.122262312C>G | CA354152980 | CASR | c.1277C>G (p.Ser426Cys) c.794C>G (p.Ser265Cys) c.689C>G (p.Ser230Cys) | |
| 3 | g.122262312C>T | CA354152981 | CASR | c.1277C>T (p.Ser426Phe) c.794C>T (p.Ser265Phe) c.689C>T (p.Ser230Phe) | |
| 3 | g.122262313del | CA2586972810 | CASR | c.1278del (p.Ile427LeufsTer?) c.795del (p.Ile266LeufsTer?) c.690del (p.Ile231LeufsTer?) | |
| 3 | g.122262313C>A | CA435424838 | CASR | c.1278C>A (p.Ser426=) c.795C>A (p.Ser265=) c.690C>A (p.Ser230=) | |
| 3 | g.122262313C= | CA1397873826 | CASR | c.1278C= (p.Ser426=) c.795C= (p.Ser265=) c.690C= (p.Ser230=) | |
| 3 | g.122262313C>G | CA435424839 | CASR | c.1278C>G (p.Ser426=) c.795C>G (p.Ser265=) c.690C>G (p.Ser230=) | ClinVar |
| 3 | g.122262313C>T | CA2569615 | CASR | c.1278C>T (p.Ser426=) c.795C>T (p.Ser265=) c.690C>T (p.Ser230=) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122262314A= | CA1397873830 | CASR | c.1279A= (p.Ile427=) c.796A= (p.Ile266=) c.691A= (p.Ile231=) | |
| 3 | g.122262314A>C | CA354152984 | CASR | c.1279A>C (p.Ile427Leu) c.796A>C (p.Ile266Leu) c.691A>C (p.Ile231Leu) | ClinVar |
| 3 | g.122262314A>G | CA354152983 | CASR | c.1279A>G (p.Ile427Val) c.796A>G (p.Ile266Val) c.691A>G (p.Ile231Val) | ClinVar dbSNP |
| 3 | g.122262314A>T | CA354152982 | CASR | c.1279A>T (p.Ile427Phe) c.796A>T (p.Ile266Phe) c.691A>T (p.Ile231Phe) | |
| 3 | g.122262315T>A | CA354152985 | CASR | c.1280T>A (p.Ile427Asn) c.797T>A (p.Ile266Asn) c.692T>A (p.Ile231Asn) | |
| 3 | g.122262315T>C | CA354152987 | CASR | c.1280T>C (p.Ile427Thr) c.797T>C (p.Ile266Thr) c.692T>C (p.Ile231Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262315T>G | CA354152986 | CASR | c.1280T>G (p.Ile427Ser) c.797T>G (p.Ile266Ser) c.692T>G (p.Ile231Ser) | |
| 3 | g.122262315T= | CA1397873835 | CASR | c.1280T= (p.Ile427=) c.797T= (p.Ile266=) c.692T= (p.Ile231=) | |
| 3 | g.122262316T>A | CA435424844 | CASR | c.1281T>A (p.Ile427=) c.798T>A (p.Ile266=) c.693T>A (p.Ile231=) | |
| 3 | g.122262316T>C | CA2569616 | CASR | c.1281T>C (p.Ile427=) c.798T>C (p.Ile266=) c.693T>C (p.Ile231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262316T>G | CA354152988 | CASR | c.1281T>G (p.Ile427Met) c.798T>G (p.Ile266Met) c.693T>G (p.Ile231Met) | ClinVar gnomAD v4 |
| 3 | g.122262316T= | CA1397873848 | CASR | c.1281T= (p.Ile427=) c.798T= (p.Ile266=) c.693T= (p.Ile231=) | |
| 3 | g.122262317G>A | CA354152989 | CASR | c.1282G>A (p.Ala428Thr) c.799G>A (p.Ala267Thr) c.694G>A (p.Ala232Thr) | |
| 3 | g.122262317G>C | CA354152991 | CASR | c.1282G>C (p.Ala428Pro) c.799G>C (p.Ala267Pro) c.694G>C (p.Ala232Pro) | |
| 3 | g.122262317G>T | CA354152990 | CASR | c.1282G>T (p.Ala428Ser) c.799G>T (p.Ala267Ser) c.694G>T (p.Ala232Ser) | |
| 3 | g.122262318C>A | CA354152992 | CASR | c.1283C>A (p.Ala428Asp) c.800C>A (p.Ala267Asp) c.695C>A (p.Ala232Asp) | ClinVar dbSNP |
| 3 | g.122262318C= | CA1397873853 | CASR | c.1283C= (p.Ala428=) c.800C= (p.Ala267=) c.695C= (p.Ala232=) | |
| 3 | g.122262318C>G | CA354152993 | CASR | c.1283C>G (p.Ala428Gly) c.800C>G (p.Ala267Gly) c.695C>G (p.Ala232Gly) | |
| 3 | g.122262318C>T | CA16611300 | CASR | c.1283C>T (p.Ala428Val) c.800C>T (p.Ala267Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262319C>A | CA435424855 | CASR | c.1284C>A (p.Ala428=) c.801C>A (p.Ala267=) c.696C>A (p.Ala232=) | |
| 3 | g.122262319C>G | CA435424854 | CASR | c.1284C>G (p.Ala428=) c.801C>G (p.Ala267=) c.696C>G (p.Ala232=) | |
| 3 | g.122262319C>T | CA435424853 | CASR | c.1284C>T (p.Ala428=) c.801C>T (p.Ala267=) c.696C>T (p.Ala232=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262320C>A | CA354152994 | CASR | c.1285C>A (p.His429Asn) c.802C>A (p.His268Asn) c.697C>A (p.His233Asn) | |
| 3 | g.122262320C= | CA1397873860 | CASR | c.1285C= (p.His429=) c.802C= (p.His268=) c.697C= (p.His233=) | |
| 3 | g.122262320C>G | CA354152995 | CASR | c.1285C>G (p.His429Asp) c.802C>G (p.His268Asp) c.697C>G (p.His233Asp) | |
| 3 | g.122262320C>T | CA2569617 | CASR | c.1285C>T (p.His429Tyr) c.802C>T (p.His268Tyr) c.697C>T (p.His233Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122262321A>C | CA354152996 | CASR | c.1286A>C (p.His429Pro) c.803A>C (p.His268Pro) c.698A>C (p.His233Pro) | |
| 3 | g.122262321A>G | CA354152997 | CASR | c.1286A>G (p.His429Arg) c.803A>G (p.His268Arg) c.698A>G (p.His233Arg) | ClinVar |
| 3 | g.122262321A>T | CA354152998 | CASR | c.1286A>T (p.His429Leu) c.803A>T (p.His268Leu) c.698A>T (p.His233Leu) | |
| 3 | g.122262322C>A | CA2569619 | CASR | c.1287C>A (p.His429Gln) c.804C>A (p.His268Gln) c.699C>A (p.His233Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122262322C= | CA1397873871 | CASR | c.1287C= (p.His429=) c.804C= (p.His268=) c.699C= (p.His233=) | |
| 3 | g.122262322C>G | CA354152999 | CASR | c.1287C>G (p.His429Gln) c.804C>G (p.His268Gln) c.699C>G (p.His233Gln) | |
| 3 | g.122262322C>T | CA2569618 | CASR | c.1287C>T (p.His429=) c.804C>T (p.His268=) c.699C>T (p.His233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122262322_122262323insA | CA2740094567 | CASR | c.1287_1288insA (p.Ala430SerfsTer27) c.804_805insA (p.Ala269SerfsTer27) c.699_700insA (p.Ala234SerfsTer27) | ClinVar |
| 3 | g.122262323G>A | CA82739075 | CASR | c.1288G>A (p.Ala430Thr) c.805G>A (p.Ala269Thr) c.700G>A (p.Ala234Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122262323G>C | CA354153000 | CASR | c.1288G>C (p.Ala430Pro) c.805G>C (p.Ala269Pro) c.700G>C (p.Ala234Pro) | |
| 3 | g.122262323G= | CA1397873881 | CASR | c.1288G= (p.Ala430=) c.805G= (p.Ala269=) c.700G= (p.Ala234=) | |
| 3 | g.122262323G>T | CA82739080 | CASR | c.1288G>T (p.Ala430Ser) c.805G>T (p.Ala269Ser) c.700G>T (p.Ala234Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122262324C>A | CA354153001 | CASR | c.1289C>A (p.Ala430Asp) c.806C>A (p.Ala269Asp) c.701C>A (p.Ala234Asp) | |
| 3 | g.122262324C>G | CA354153002 | CASR | c.1289C>G (p.Ala430Gly) c.806C>G (p.Ala269Gly) c.701C>G (p.Ala234Gly) | |
| 3 | g.122262324C>T | CA354153003 | CASR | c.1289C>T (p.Ala430Val) c.806C>T (p.Ala269Val) c.701C>T (p.Ala234Val) | |
| 3 | g.122262325C>A | CA435424868 | CASR | c.1290C>A (p.Ala430=) c.807C>A (p.Ala269=) c.702C>A (p.Ala234=) | |
| 3 | g.122262325C>G | CA435424871 | CASR | c.1290C>G (p.Ala430=) c.807C>G (p.Ala269=) c.702C>G (p.Ala234=) | |
| 3 | g.122262325C>T | CA435424870 | CASR | c.1290C>T (p.Ala430=) c.807C>T (p.Ala269=) c.702C>T (p.Ala234=) |