Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
3 | g.122262326T>A | CA354153004 | CASR | c.1291T>A (p.Leu431Met) c.808T>A (p.Leu270Met) c.703T>A (p.Leu235Met) | |
3 | g.122262326T>C | CA435424872 | CASR | c.1291T>C (p.Leu431=) c.808T>C (p.Leu270=) c.703T>C (p.Leu235=) | gnomAD v4 |
3 | g.122262326T>G | CA354153005 | CASR | c.1291T>G (p.Leu431Val) c.808T>G (p.Leu270Val) c.703T>G (p.Leu235Val) | |
3 | g.122262327T>A | CA354153006 | CASR | c.1292T>A (p.Leu431Ter) c.809T>A (p.Leu270Ter) c.704T>A (p.Leu235Ter) | |
3 | g.122262327T>C | CA354153007 | CASR | c.1292T>C (p.Leu431Ser) c.809T>C (p.Leu270Ser) c.704T>C (p.Leu235Ser) | |
3 | g.122262327T>G | CA354153008 | CASR | c.1292T>G (p.Leu431Trp) c.809T>G (p.Leu270Trp) c.704T>G (p.Leu235Trp) | |
3 | g.122262328G>A | CA435424878 | CASR | c.1293G>A (p.Leu431=) c.810G>A (p.Leu270=) c.705G>A (p.Leu235=) | ClinVar dbSNP gnomAD v4 |
3 | g.122262328G>C | CA354153009 | CASR | c.1293G>C (p.Leu431Phe) c.810G>C (p.Leu270Phe) c.705G>C (p.Leu235Phe) | |
3 | g.122262328G>T | CA354153010 | CASR | c.1293G>T (p.Leu431Phe) c.810G>T (p.Leu270Phe) c.705G>T (p.Leu235Phe) | |
3 | g.122262329C>A | CA354153011 | CASR | c.1294C>A (p.Gln432Lys) c.811C>A (p.Gln271Lys) c.706C>A (p.Gln236Lys) | |
3 | g.122262329C>G | CA354153012 | CASR | c.1294C>G (p.Gln432Glu) c.811C>G (p.Gln271Glu) c.706C>G (p.Gln236Glu) | |
3 | g.122262329C>T | CA354153013 | CASR | c.1294C>T (p.Gln432Ter) c.811C>T (p.Gln271Ter) c.706C>T (p.Gln236Ter) | COSMIC |
3 | g.122262330A>C | CA354153014 | CASR | c.1295A>C (p.Gln432Pro) c.812A>C (p.Gln271Pro) c.707A>C (p.Gln236Pro) | ClinVar |
3 | g.122262330A>G | CA354153015 | CASR | c.1295A>G (p.Gln432Arg) c.812A>G (p.Gln271Arg) c.707A>G (p.Gln236Arg) | |
3 | g.122262330A>T | CA354153016 | CASR | c.1295A>T (p.Gln432Leu) c.812A>T (p.Gln271Leu) c.707A>T (p.Gln236Leu) | |
3 | g.122262331A>C | CA354153017 | CASR | c.1296A>C (p.Gln432His) c.813A>C (p.Gln271His) c.708A>C (p.Gln236His) | |
3 | g.122262331A>G | CA435424895 | CASR | c.1296A>G (p.Gln432=) c.813A>G (p.Gln271=) c.708A>G (p.Gln236=) | ClinVar |
3 | g.122262331A>T | CA354153018 | CASR | c.1296A>T (p.Gln432His) c.813A>T (p.Gln271His) c.708A>T (p.Gln236His) | |
3 | g.122262332G>A | CA354153019 | CASR | c.1297G>A (p.Asp433Asn) c.814G>A (p.Asp272Asn) c.709G>A (p.Asp237Asn) | |
3 | g.122262332G>C | CA2569620 | CASR | c.1297G>C (p.Asp433His) c.814G>C (p.Asp272His) c.709G>C (p.Asp237His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262332G= | CA1397873887 | CASR | c.1297G= (p.Asp433=) c.814G= (p.Asp272=) c.709G= (p.Asp237=) | |
3 | g.122262332G>T | CA2569621 | CASR | c.1297G>T (p.Asp433Tyr) c.814G>T (p.Asp272Tyr) c.709G>T (p.Asp237Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262333A>C | CA354153020 | CASR | c.1298A>C (p.Asp433Ala) c.815A>C (p.Asp272Ala) c.710A>C (p.Asp237Ala) | |
3 | g.122262333A>G | CA354153021 | CASR | c.1298A>G (p.Asp433Gly) c.815A>G (p.Asp272Gly) c.710A>G (p.Asp237Gly) | |
3 | g.122262333A>T | CA354153022 | CASR | c.1298A>T (p.Asp433Val) c.815A>T (p.Asp272Val) c.710A>T (p.Asp237Val) | gnomAD v4 |
3 | g.122262340_122262341dup | CA2580574405 | CASR | c.1305_1306dup (p.Thr436IlefsTer?) c.1305_1306dup (p.Thr436IlefsTer27) c.822_823dup (p.Thr275IlefsTer27) c.717_718dup (p.Thr240IlefsTer27) | |
3 | g.122262336_122262341del | CA2695199275 | CASR | c.1301_1306del (p.Ile434_Tyr435del) c.818_823del (p.Ile273_Tyr274del) c.713_718del (p.Ile238_Tyr239del) | ClinVar |
3 | g.122262334T>A | CA354153023 | CASR | c.1299T>A (p.Asp433Glu) c.816T>A (p.Asp272Glu) c.711T>A (p.Asp237Glu) | |
3 | g.122262334T>C | CA435424912 | CASR | c.1299T>C (p.Asp433=) c.816T>C (p.Asp272=) c.711T>C (p.Asp237=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262334T>G | CA354153024 | CASR | c.1299T>G (p.Asp433Glu) c.816T>G (p.Asp272Glu) c.711T>G (p.Asp237Glu) | |
3 | g.122262334T= | CA1397873894 | CASR | c.1299T= (p.Asp433=) c.816T= (p.Asp272=) c.711T= (p.Asp237=) | |
3 | g.122262335A>C | CA354153025 | CASR | c.1300A>C (p.Ile434Leu) c.817A>C (p.Ile273Leu) c.712A>C (p.Ile238Leu) | gnomAD v4 |
3 | g.122262335A>G | CA354153026 | CASR | c.1300A>G (p.Ile434Val) c.817A>G (p.Ile273Val) c.712A>G (p.Ile238Val) | |
3 | g.122262335A>T | CA354153027 | CASR | c.1300A>T (p.Ile434Leu) c.817A>T (p.Ile273Leu) c.712A>T (p.Ile238Leu) | |
3 | g.122262336T>A | CA354153030 | CASR | c.1301T>A (p.Ile434Lys) c.818T>A (p.Ile273Lys) c.713T>A (p.Ile238Lys) | |
3 | g.122262336T>C | CA354153029 | CASR | c.1301T>C (p.Ile434Thr) c.818T>C (p.Ile273Thr) c.713T>C (p.Ile238Thr) | ClinVar dbSNP |
3 | g.122262336T>G | CA354153028 | CASR | c.1301T>G (p.Ile434Arg) c.818T>G (p.Ile273Arg) c.713T>G (p.Ile238Arg) | |
3 | g.122262336T= | CA1397873896 | CASR | c.1301T= (p.Ile434=) c.818T= (p.Ile273=) c.713T= (p.Ile238=) | |
3 | g.122262337A= | CA1397873903 | CASR | c.1302A= (p.Ile434=) c.819A= (p.Ile273=) c.714A= (p.Ile238=) | |
3 | g.122262337A>C | CA435424919 | CASR | c.1302A>C (p.Ile434=) c.819A>C (p.Ile273=) c.714A>C (p.Ile238=) | gnomAD v4 |
3 | g.122262337A>G | CA354153031 | CASR | c.1302A>G (p.Ile434Met) c.819A>G (p.Ile273Met) c.714A>G (p.Ile238Met) | ClinVar dbSNP gnomAD v4 |
3 | g.122262337A>T | CA435424921 | CASR | c.1302A>T (p.Ile434=) c.819A>T (p.Ile273=) c.714A>T (p.Ile238=) | |
3 | g.122262338T>A | CA354153032 | CASR | c.1303T>A (p.Tyr435Asn) c.820T>A (p.Tyr274Asn) c.715T>A (p.Tyr239Asn) | |
3 | g.122262338T>C | CA354153033 | CASR | c.1303T>C (p.Tyr435His) c.820T>C (p.Tyr274His) c.715T>C (p.Tyr239His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262338T>G | CA354153034 | CASR | c.1303T>G (p.Tyr435Asp) c.820T>G (p.Tyr274Asp) c.715T>G (p.Tyr239Asp) | |
3 | g.122262338T= | CA1397873906 | CASR | c.1303T= (p.Tyr435=) c.820T= (p.Tyr274=) c.715T= (p.Tyr239=) | |
3 | g.122262339A= | CA1397873909 | CASR | c.1304A= (p.Tyr435=) c.821A= (p.Tyr274=) c.716A= (p.Tyr239=) | |
3 | g.122262339A>C | CA354153035 | CASR | c.1304A>C (p.Tyr435Ser) c.821A>C (p.Tyr274Ser) c.716A>C (p.Tyr239Ser) | gnomAD v4 |
3 | g.122262339A>G | CA354153036 | CASR | c.1304A>G (p.Tyr435Cys) c.821A>G (p.Tyr274Cys) c.716A>G (p.Tyr239Cys) | ClinVar |
3 | g.122262339A>T | CA354153037 | CASR | c.1304A>T (p.Tyr435Phe) c.821A>T (p.Tyr274Phe) c.716A>T (p.Tyr239Phe) | ClinVar dbSNP COSMIC |
3 | g.122262340T>A | CA354153038 | CASR | c.1305T>A (p.Tyr435Ter) c.822T>A (p.Tyr274Ter) c.717T>A (p.Tyr239Ter) | |
3 | g.122262340T>C | CA435424934 | CASR | c.1305T>C (p.Tyr435=) c.822T>C (p.Tyr274=) c.717T>C (p.Tyr239=) | ClinVar dbSNP |
3 | g.122262340T>G | CA354153039 | CASR | c.1305T>G (p.Tyr435Ter) c.822T>G (p.Tyr274Ter) c.717T>G (p.Tyr239Ter) | |
3 | g.122262340T= | CA1397873916 | CASR | c.1305T= (p.Tyr435=) c.822T= (p.Tyr274=) c.717T= (p.Tyr239=) | |
3 | g.122262341A>C | CA354153040 | CASR | c.1306A>C (p.Thr436Pro) c.823A>C (p.Thr275Pro) c.718A>C (p.Thr240Pro) | |
3 | g.122262341A>G | CA354153041 | CASR | c.1306A>G (p.Thr436Ala) c.823A>G (p.Thr275Ala) c.718A>G (p.Thr240Ala) | |
3 | g.122262341A>T | CA354153042 | CASR | c.1306A>T (p.Thr436Ser) c.823A>T (p.Thr275Ser) c.718A>T (p.Thr240Ser) | |
3 | g.122262341_122262342del | CA2667225082 | CASR | c.1306_1307del (p.Thr436LeufsTer20) c.823_824del (p.Thr275LeufsTer20) c.718_719del (p.Thr240LeufsTer20) | gnomAD v4 |
3 | g.122262342C>A | CA354153044 | CASR | c.1307C>A (p.Thr436Asn) c.824C>A (p.Thr275Asn) c.719C>A (p.Thr240Asn) | dbSNP |
3 | g.122262342C= | CA1397873922 | CASR | c.1307C= (p.Thr436=) c.824C= (p.Thr275=) c.719C= (p.Thr240=) | |
3 | g.122262342C>G | CA354153045 | CASR | c.1307C>G (p.Thr436Ser) c.824C>G (p.Thr275Ser) c.719C>G (p.Thr240Ser) | ClinVar dbSNP |
3 | g.122262342C>T | CA354153043 | CASR | c.1307C>T (p.Thr436Ile) c.824C>T (p.Thr275Ile) c.719C>T (p.Thr240Ile) | |
3 | g.122262343C>A | CA435424941 | CASR | c.1308C>A (p.Thr436=) c.825C>A (p.Thr275=) c.720C>A (p.Thr240=) | |
3 | g.122262343C>G | CA435424946 | CASR | c.1308C>G (p.Thr436=) c.825C>G (p.Thr275=) c.720C>G (p.Thr240=) | |
3 | g.122262343C>T | CA435424949 | CASR | c.1308C>T (p.Thr436=) c.825C>T (p.Thr275=) c.720C>T (p.Thr240=) | |
3 | g.122262344T>A | CA354153048 | CASR | c.1309T>A (p.Cys437Ser) c.826T>A (p.Cys276Ser) c.721T>A (p.Cys241Ser) | ClinVar dbSNP |
3 | g.122262344T>C | CA354153046 | CASR | c.1309T>C (p.Cys437Arg) c.826T>C (p.Cys276Arg) c.721T>C (p.Cys241Arg) | ClinVar dbSNP |
3 | g.122262344T>G | CA354153047 | CASR | c.1309T>G (p.Cys437Gly) c.826T>G (p.Cys276Gly) c.721T>G (p.Cys241Gly) | |
3 | g.122262344T= | CA1397873927 | CASR | c.1309T= (p.Cys437=) c.826T= (p.Cys276=) c.721T= (p.Cys241=) | |
3 | g.122262345G>A | CA354153049 | CASR | c.1310G>A (p.Cys437Tyr) c.827G>A (p.Cys276Tyr) c.722G>A (p.Cys241Tyr) | |
3 | g.122262345G>C | CA354153050 | CASR | c.1310G>C (p.Cys437Ser) c.827G>C (p.Cys276Ser) c.722G>C (p.Cys241Ser) | |
3 | g.122262345G>T | CA354153053 | CASR | c.1310G>T (p.Cys437Phe) c.827G>T (p.Cys276Phe) c.722G>T (p.Cys241Phe) | |
3 | g.122262346C>A | CA354153056 | CASR | c.1311C>A (p.Cys437Ter) c.828C>A (p.Cys276Ter) c.723C>A (p.Cys241Ter) | |
3 | g.122262346C>G | CA354153058 | CASR | c.1311C>G (p.Cys437Trp) c.828C>G (p.Cys276Trp) c.723C>G (p.Cys241Trp) | |
3 | g.122262346C>T | CA435424956 | CASR | c.1311C>T (p.Cys437=) c.828C>T (p.Cys276=) c.723C>T (p.Cys241=) | ClinVar dbSNP |
3 | g.122262347T>A | CA354153061 | CASR | c.1312T>A (p.Leu438Ile) c.829T>A (p.Leu277Ile) c.724T>A (p.Leu242Ile) | |
3 | g.122262347T>C | CA435424958 | CASR | c.1312T>C (p.Leu438=) c.829T>C (p.Leu277=) c.724T>C (p.Leu242=) | ClinVar dbSNP |
3 | g.122262347T>G | CA354153063 | CASR | c.1312T>G (p.Leu438Val) c.829T>G (p.Leu277Val) c.724T>G (p.Leu242Val) | |
3 | g.122262347T= | CA1397873930 | CASR | c.1312T= (p.Leu438=) c.829T= (p.Leu277=) c.724T= (p.Leu242=) | |
3 | g.122262348T>A | CA354153066 | CASR | c.1313T>A (p.Leu438Ter) c.830T>A (p.Leu277Ter) c.725T>A (p.Leu242Ter) | |
3 | g.122262348T>C | CA354153068 | CASR | c.1313T>C (p.Leu438Ser) c.830T>C (p.Leu277Ser) c.725T>C (p.Leu242Ser) | ClinVar |
3 | g.122262348T>G | CA354153070 | CASR | c.1313T>G (p.Leu438Ter) c.830T>G (p.Leu277Ter) c.725T>G (p.Leu242Ter) | |
3 | g.122262349A>C | CA354153072 | CASR | c.1314A>C (p.Leu438Phe) c.831A>C (p.Leu277Phe) c.726A>C (p.Leu242Phe) | |
3 | g.122262349A>G | CA435424961 | CASR | c.1314A>G (p.Leu438=) c.831A>G (p.Leu277=) c.726A>G (p.Leu242=) | |
3 | g.122262349A>T | CA354153073 | CASR | c.1314A>T (p.Leu438Phe) c.831A>T (p.Leu277Phe) c.726A>T (p.Leu242Phe) | |
3 | g.122262350C>A | CA354153075 | CASR | c.1315C>A (p.Pro439Thr) c.832C>A (p.Pro278Thr) c.727C>A (p.Pro243Thr) | COSMIC |
3 | g.122262350C>G | CA354153078 | CASR | c.1315C>G (p.Pro439Ala) c.832C>G (p.Pro278Ala) c.727C>G (p.Pro243Ala) | |
3 | g.122262350C>T | CA354153076 | CASR | c.1315C>T (p.Pro439Ser) c.832C>T (p.Pro278Ser) c.727C>T (p.Pro243Ser) | |
3 | g.122262351C>A | CA354153081 | CASR | c.1316C>A (p.Pro439His) c.833C>A (p.Pro278His) c.728C>A (p.Pro243His) | ClinVar dbSNP |
3 | g.122262351C= | CA1397873934 | CASR | c.1316C= (p.Pro439=) c.833C= (p.Pro278=) c.728C= (p.Pro243=) | |
3 | g.122262351C>G | CA354153083 | CASR | c.1316C>G (p.Pro439Arg) c.833C>G (p.Pro278Arg) c.728C>G (p.Pro243Arg) | |
3 | g.122262351C>T | CA354153086 | CASR | c.1316C>T (p.Pro439Leu) c.833C>T (p.Pro278Leu) c.728C>T (p.Pro243Leu) | |
3 | g.122262352T>A | CA435424969 | CASR | c.1317T>A (p.Pro439=) c.834T>A (p.Pro278=) c.729T>A (p.Pro243=) | |
3 | g.122262352T>C | CA2569622 | CASR | c.1317T>C (p.Pro439=) c.834T>C (p.Pro278=) c.729T>C (p.Pro243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262352T>G | CA435424973 | CASR | c.1317T>G (p.Pro439=) c.834T>G (p.Pro278=) c.729T>G (p.Pro243=) | |
3 | g.122262352T= | CA1397873936 | CASR | c.1317T= (p.Pro439=) c.834T= (p.Pro278=) c.729T= (p.Pro243=) | |
3 | g.122262353G>A | CA354153091 | CASR | c.1318G>A (p.Gly440Arg) c.835G>A (p.Gly279Arg) c.730G>A (p.Gly244Arg) | |
3 | g.122262353G>C | CA354153093 | CASR | c.1318G>C (p.Gly440Arg) c.835G>C (p.Gly279Arg) c.730G>C (p.Gly244Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262353G= | CA1397873937 | CASR | c.1318G= (p.Gly440=) c.835G= (p.Gly279=) c.730G= (p.Gly244=) | |
3 | g.122262353G>T | CA354153095 | CASR | c.1318G>T (p.Gly440Trp) c.835G>T (p.Gly279Trp) c.730G>T (p.Gly244Trp) | |
3 | g.122262355del | CA435424977 | CASR | c.1320del (p.Arg441GlufsTer?) c.1320del (p.Arg441GlufsTer21) c.837del (p.Arg280GlufsTer21) c.732del (p.Arg245GlufsTer21) | COSMIC |
3 | g.122262354G>A | CA354153098 | CASR | c.1319G>A (p.Gly440Glu) c.836G>A (p.Gly279Glu) c.731G>A (p.Gly244Glu) | ClinVar COSMIC |
3 | g.122262354G>C | CA354153100 | CASR | c.1319G>C (p.Gly440Ala) c.836G>C (p.Gly279Ala) c.731G>C (p.Gly244Ala) | |
3 | g.122262354G>T | CA354153103 | CASR | c.1319G>T (p.Gly440Val) c.836G>T (p.Gly279Val) c.731G>T (p.Gly244Val) | |
3 | g.122262355G>A | CA435424983 | CASR | c.1320G>A (p.Gly440=) c.837G>A (p.Gly279=) c.732G>A (p.Gly244=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262355G>C | CA435424987 | CASR | c.1320G>C (p.Gly440=) c.837G>C (p.Gly279=) c.732G>C (p.Gly244=) | |
3 | g.122262355G= | CA1397873938 | CASR | c.1320G= (p.Gly440=) c.837G= (p.Gly279=) c.732G= (p.Gly244=) | |
3 | g.122262355G>T | CA82739119 | CASR | c.1320G>T (p.Gly440=) c.837G>T (p.Gly279=) c.732G>T (p.Gly244=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262356A>C | CA435424988 | CASR | c.1321A>C (p.Arg441=) c.838A>C (p.Arg280=) c.733A>C (p.Arg245=) | |
3 | g.122262356A>G | CA354153108 | CASR | c.1321A>G (p.Arg441Gly) c.838A>G (p.Arg280Gly) c.733A>G (p.Arg245Gly) | |
3 | g.122262356A>T | CA354153110 | CASR | c.1321A>T (p.Arg441Ter) c.838A>T (p.Arg280Ter) c.733A>T (p.Arg245Ter) | |
3 | g.122262357G>A | CA354153113 | CASR | c.1322G>A (p.Arg441Lys) c.839G>A (p.Arg280Lys) c.734G>A (p.Arg245Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262357G>C | CA354153115 | CASR | c.1322G>C (p.Arg441Thr) c.839G>C (p.Arg280Thr) c.734G>C (p.Arg245Thr) | |
3 | g.122262357G= | CA1397873939 | CASR | c.1322G= (p.Arg441=) c.839G= (p.Arg280=) c.734G= (p.Arg245=) | |
3 | g.122262357G>T | CA354153117 | CASR | c.1322G>T (p.Arg441Ile) c.839G>T (p.Arg280Ile) c.734G>T (p.Arg245Ile) | |
3 | g.122262358A>C | CA354153119 | CASR | c.1323A>C (p.Arg441Ser) c.840A>C (p.Arg280Ser) c.735A>C (p.Arg245Ser) | |
3 | g.122262358A>G | CA435424997 | CASR | c.1323A>G (p.Arg441=) c.840A>G (p.Arg280=) c.735A>G (p.Arg245=) | ClinVar |
3 | g.122262358A>T | CA354153121 | CASR | c.1323A>T (p.Arg441Ser) c.840A>T (p.Arg280Ser) c.735A>T (p.Arg245Ser) | |
3 | g.122262359G>A | CA354153129 | CASR | c.1324G>A (p.Gly442Arg) c.841G>A (p.Gly281Arg) c.736G>A (p.Gly246Arg) | |
3 | g.122262359G>C | CA354153127 | CASR | c.1324G>C (p.Gly442Arg) c.841G>C (p.Gly281Arg) c.736G>C (p.Gly246Arg) | gnomAD v4 |
3 | g.122262359G>T | CA354153124 | CASR | c.1324G>T (p.Gly442Trp) c.841G>T (p.Gly281Trp) c.736G>T (p.Gly246Trp) | |
3 | g.122262360G>A | CA354153133 | CASR | c.1325G>A (p.Gly442Glu) c.842G>A (p.Gly281Glu) c.737G>A (p.Gly246Glu) | |
3 | g.122262360G>C | CA354153135 | CASR | c.1325G>C (p.Gly442Ala) c.842G>C (p.Gly281Ala) c.737G>C (p.Gly246Ala) | |
3 | g.122262360G>T | CA354153137 | CASR | c.1325G>T (p.Gly442Val) c.842G>T (p.Gly281Val) c.737G>T (p.Gly246Val) | |
3 | g.122262361G>A | CA435425003 | CASR | c.1326G>A (p.Gly442=) c.843G>A (p.Gly281=) c.738G>A (p.Gly246=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262361G>C | CA435425006 | CASR | c.1326G>C (p.Gly442=) c.843G>C (p.Gly281=) c.738G>C (p.Gly246=) | |
3 | g.122262361G= | CA1397873940 | CASR | c.1326G= (p.Gly442=) c.843G= (p.Gly281=) c.738G= (p.Gly246=) | |
3 | g.122262361G>T | CA435425007 | CASR | c.1326G>T (p.Gly442=) c.843G>T (p.Gly281=) c.738G>T (p.Gly246=) | |
3 | g.122262362C>A | CA16611301 | CASR | c.1327C>A (p.Leu443Ile) c.844C>A (p.Leu282Ile) c.739C>A (p.Leu247Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262362C= | CA1397873941 | CASR | c.1327C= (p.Leu443=) c.844C= (p.Leu282=) c.739C= (p.Leu247=) | |
3 | g.122262362C>G | CA354153141 | CASR | c.1327C>G (p.Leu443Val) c.844C>G (p.Leu282Val) c.739C>G (p.Leu247Val) | |
3 | g.122262362C>T | CA82739130 | CASR | c.1327C>T (p.Leu443Phe) c.844C>T (p.Leu282Phe) c.739C>T (p.Leu247Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.122262363T>A | CA354153146 | CASR | c.1328T>A (p.Leu443His) c.845T>A (p.Leu282His) c.740T>A (p.Leu247His) | |
3 | g.122262363T>C | CA354153148 | CASR | c.1328T>C (p.Leu443Pro) c.845T>C (p.Leu282Pro) c.740T>C (p.Leu247Pro) | ClinVar dbSNP |
3 | g.122262363T>G | CA354153147 | CASR | c.1328T>G (p.Leu443Arg) c.845T>G (p.Leu282Arg) c.740T>G (p.Leu247Arg) | ClinVar |
3 | g.122262364C>A | CA435425013 | CASR | c.1329C>A (p.Leu443=) c.846C>A (p.Leu282=) c.741C>A (p.Leu247=) | |
3 | g.122262364C>G | CA435425015 | CASR | c.1329C>G (p.Leu443=) c.846C>G (p.Leu282=) c.741C>G (p.Leu247=) | |
3 | g.122262364C>T | CA435425016 | CASR | c.1329C>T (p.Leu443=) c.846C>T (p.Leu282=) c.741C>T (p.Leu247=) | |
3 | g.122262365T>A | CA354153150 | CASR | c.1330T>A (p.Phe444Ile) c.847T>A (p.Phe283Ile) c.742T>A (p.Phe248Ile) | |
3 | g.122262365T>C | CA354153152 | CASR | c.1330T>C (p.Phe444Leu) c.847T>C (p.Phe283Leu) c.742T>C (p.Phe248Leu) | |
3 | g.122262365T>G | CA354153154 | CASR | c.1330T>G (p.Phe444Val) c.847T>G (p.Phe283Val) c.742T>G (p.Phe248Val) | |
3 | g.122262366T>A | CA354153157 | CASR | c.1331T>A (p.Phe444Tyr) c.848T>A (p.Phe283Tyr) c.743T>A (p.Phe248Tyr) | |
3 | g.122262366T>C | CA354153159 | CASR | c.1331T>C (p.Phe444Ser) c.848T>C (p.Phe283Ser) c.743T>C (p.Phe248Ser) | |
3 | g.122262366T>G | CA354153161 | CASR | c.1331T>G (p.Phe444Cys) c.848T>G (p.Phe283Cys) c.743T>G (p.Phe248Cys) | ClinVar |
3 | g.122262367C>A | CA354153164 | CASR | c.1332C>A (p.Phe444Leu) c.849C>A (p.Phe283Leu) c.744C>A (p.Phe248Leu) | gnomAD v4 |
3 | g.122262367C>G | CA354153166 | CASR | c.1332C>G (p.Phe444Leu) c.849C>G (p.Phe283Leu) c.744C>G (p.Phe248Leu) | |
3 | g.122262367C>T | CA435425023 | CASR | c.1332C>T (p.Phe444=) c.849C>T (p.Phe283=) c.744C>T (p.Phe248=) | |
3 | g.122262368A= | CA1397873942 | CASR | c.1333A= (p.Thr445=) c.850A= (p.Thr284=) c.745A= (p.Thr249=) | |
3 | g.122262368A>C | CA354153170 | CASR | c.1333A>C (p.Thr445Pro) c.850A>C (p.Thr284Pro) c.745A>C (p.Thr249Pro) | ClinVar |
3 | g.122262368A>G | CA202248 | CASR | c.1333A>G (p.Thr445Ala) c.850A>G (p.Thr284Ala) c.745A>G (p.Thr249Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262368A>T | CA354153174 | CASR | c.1333A>T (p.Thr445Ser) c.850A>T (p.Thr284Ser) c.745A>T (p.Thr249Ser) | |
3 | g.122262369C>A | CA354153181 | CASR | c.1334C>A (p.Thr445Asn) c.851C>A (p.Thr284Asn) c.746C>A (p.Thr249Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262369C= | CA1397873944 | CASR | c.1334C= (p.Thr445=) c.851C= (p.Thr284=) c.746C= (p.Thr249=) | |
3 | g.122262369C>G | CA354153178 | CASR | c.1334C>G (p.Thr445Ser) c.851C>G (p.Thr284Ser) c.746C>G (p.Thr249Ser) | ClinVar |
3 | g.122262369C>T | CA354153177 | CASR | c.1334C>T (p.Thr445Ile) c.851C>T (p.Thr284Ile) c.746C>T (p.Thr249Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262370C>A | CA435425027 | CASR | c.1335C>A (p.Thr445=) c.852C>A (p.Thr284=) c.747C>A (p.Thr249=) | ClinVar |
3 | g.122262370C>G | CA435425029 | CASR | c.1335C>G (p.Thr445=) c.852C>G (p.Thr284=) c.747C>G (p.Thr249=) | |
3 | g.122262370C>T | CA435425031 | CASR | c.1335C>T (p.Thr445=) c.852C>T (p.Thr284=) c.747C>T (p.Thr249=) | ClinVar |
3 | g.122262371A>C | CA354153184 | CASR | c.1336A>C (p.Asn446His) c.853A>C (p.Asn285His) c.748A>C (p.Asn250His) | |
3 | g.122262371A>G | CA354153189 | CASR | c.1336A>G (p.Asn446Asp) c.853A>G (p.Asn285Asp) c.748A>G (p.Asn250Asp) | |
3 | g.122262371A>T | CA354153186 | CASR | c.1336A>T (p.Asn446Tyr) c.853A>T (p.Asn285Tyr) c.748A>T (p.Asn250Tyr) | |
3 | g.122262372A= | CA1397873946 | CASR | c.1337A= (p.Asn446=) c.854A= (p.Asn285=) c.749A= (p.Asn250=) | |
3 | g.122262372A>C | CA354153193 | CASR | c.1337A>C (p.Asn446Thr) c.854A>C (p.Asn285Thr) c.749A>C (p.Asn250Thr) | |
3 | g.122262372A>G | CA354153195 | CASR | c.1337A>G (p.Asn446Ser) c.854A>G (p.Asn285Ser) c.749A>G (p.Asn250Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122262372A>T | CA354153197 | CASR | c.1337A>T (p.Asn446Ile) c.854A>T (p.Asn285Ile) c.749A>T (p.Asn250Ile) | |
3 | g.122262373T>A | CA354153200 | CASR | c.1338T>A (p.Asn446Lys) c.855T>A (p.Asn285Lys) c.750T>A (p.Asn250Lys) | |
3 | g.122262373T>C | CA2569623 | CASR | c.1338T>C (p.Asn446=) c.855T>C (p.Asn285=) c.750T>C (p.Asn250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262373T>G | CA354153203 | CASR | c.1338T>G (p.Asn446Lys) c.855T>G (p.Asn285Lys) c.750T>G (p.Asn250Lys) | |
3 | g.122262373T= | CA1397873950 | CASR | c.1338T= (p.Asn446=) c.855T= (p.Asn285=) c.750T= (p.Asn250=) | |
3 | g.122262374G>A | CA354153211 | CASR | c.1339G>A (p.Gly447Ser) c.856G>A (p.Gly286Ser) c.751G>A (p.Gly251Ser) | |
3 | g.122262374G>C | CA354153209 | CASR | c.1339G>C (p.Gly447Arg) c.856G>C (p.Gly286Arg) c.751G>C (p.Gly251Arg) | |
3 | g.122262374G>T | CA354153207 | CASR | c.1339G>T (p.Gly447Cys) c.856G>T (p.Gly286Cys) c.751G>T (p.Gly251Cys) | |
3 | g.122262375G>A | CA2569624 | CASR | c.1340G>A (p.Gly447Asp) c.857G>A (p.Gly286Asp) c.752G>A (p.Gly251Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262375G>C | CA354153215 | CASR | c.1340G>C (p.Gly447Ala) c.857G>C (p.Gly286Ala) c.752G>C (p.Gly251Ala) | |
3 | g.122262375G= | CA1397873958 | CASR | c.1340G= (p.Gly447=) c.857G= (p.Gly286=) c.752G= (p.Gly251=) | |
3 | g.122262375G>T | CA354153217 | CASR | c.1340G>T (p.Gly447Val) c.857G>T (p.Gly286Val) c.752G>T (p.Gly251Val) | ClinVar |
3 | g.122262376C>A | CA435425041 | CASR | c.1341C>A (p.Gly447=) c.858C>A (p.Gly286=) c.753C>A (p.Gly251=) | |
3 | g.122262376C= | CA1397873963 | CASR | c.1341C= (p.Gly447=) c.858C= (p.Gly286=) c.753C= (p.Gly251=) | |
3 | g.122262376C>G | CA435425047 | CASR | c.1341C>G (p.Gly447=) c.858C>G (p.Gly286=) c.753C>G (p.Gly251=) | |
3 | g.122262376C>T | CA435425044 | CASR | c.1341C>T (p.Gly447=) c.858C>T (p.Gly286=) c.753C>T (p.Gly251=) | ClinVar dbSNP COSMIC |
3 | g.122262377T>A | CA354153220 | CASR | c.1342T>A (p.Ser448Thr) c.859T>A (p.Ser287Thr) c.754T>A (p.Ser252Thr) | ClinVar |
3 | g.122262377T>C | CA354153222 | CASR | c.1342T>C (p.Ser448Pro) c.859T>C (p.Ser287Pro) c.754T>C (p.Ser252Pro) | |
3 | g.122262377T>G | CA354153225 | CASR | c.1342T>G (p.Ser448Ala) c.859T>G (p.Ser287Ala) c.754T>G (p.Ser252Ala) | |
3 | g.122262378C>A | CA354153227 | CASR | c.1343C>A (p.Ser448Tyr) c.860C>A (p.Ser287Tyr) c.755C>A (p.Ser252Tyr) | |
3 | g.122262378C>G | CA354153232 | CASR | c.1343C>G (p.Ser448Cys) c.860C>G (p.Ser287Cys) c.755C>G (p.Ser252Cys) | ClinVar gnomAD v4 |
3 | g.122262378C>T | CA354153230 | CASR | c.1343C>T (p.Ser448Phe) c.860C>T (p.Ser287Phe) c.755C>T (p.Ser252Phe) | gnomAD v4 |
3 | g.122262379C>A | CA435425054 | CASR | c.1344C>A (p.Ser448=) c.861C>A (p.Ser287=) c.756C>A (p.Ser252=) | |
3 | g.122262379C>G | CA435425055 | CASR | c.1344C>G (p.Ser448=) c.861C>G (p.Ser287=) c.756C>G (p.Ser252=) | |
3 | g.122262379C>T | CA435425056 | CASR | c.1344C>T (p.Ser448=) c.861C>T (p.Ser287=) c.756C>T (p.Ser252=) | gnomAD v4 COSMIC |
3 | g.122262380T>A | CA354153234 | CASR | c.1345T>A (p.Cys449Ser) c.862T>A (p.Cys288Ser) c.757T>A (p.Cys253Ser) | |
3 | g.122262380T>C | CA354153237 | CASR | c.1345T>C (p.Cys449Arg) c.862T>C (p.Cys288Arg) c.757T>C (p.Cys253Arg) | |
3 | g.122262380T>G | CA354153239 | CASR | c.1345T>G (p.Cys449Gly) c.862T>G (p.Cys288Gly) c.757T>G (p.Cys253Gly) | |
3 | g.122262381G>A | CA354153242 | CASR | c.1346G>A (p.Cys449Tyr) c.863G>A (p.Cys288Tyr) c.758G>A (p.Cys253Tyr) | |
3 | g.122262381G>C | CA354153244 | CASR | c.1346G>C (p.Cys449Ser) c.863G>C (p.Cys288Ser) c.758G>C (p.Cys253Ser) | |
3 | g.122262381G>T | CA354153245 | CASR | c.1346G>T (p.Cys449Phe) c.863G>T (p.Cys288Phe) c.758G>T (p.Cys253Phe) | |
3 | g.122262382T>A | CA354153249 | CASR | c.1347T>A (p.Cys449Ter) c.864T>A (p.Cys288Ter) c.759T>A (p.Cys253Ter) | |
3 | g.122262382T>C | CA435425059 | CASR | c.1347T>C (p.Cys449=) c.864T>C (p.Cys288=) c.759T>C (p.Cys253=) | |
3 | g.122262382T>G | CA354153251 | CASR | c.1347T>G (p.Cys449Trp) c.864T>G (p.Cys288Trp) c.759T>G (p.Cys253Trp) | |
3 | g.122262383G>A | CA354153254 | CASR | c.1348G>A (p.Ala450Thr) c.865G>A (p.Ala289Thr) c.760G>A (p.Ala254Thr) | ClinVar |
3 | g.122262383G>C | CA354153255 | CASR | c.1348G>C (p.Ala450Pro) c.865G>C (p.Ala289Pro) c.760G>C (p.Ala254Pro) | |
3 | g.122262383G>T | CA354153257 | CASR | c.1348G>T (p.Ala450Ser) c.865G>T (p.Ala289Ser) c.760G>T (p.Ala254Ser) | |
3 | g.122262384C>A | CA354153261 | CASR | c.1349C>A (p.Ala450Glu) c.866C>A (p.Ala289Glu) c.761C>A (p.Ala254Glu) | |
3 | g.122262384C= | CA1397873970 | CASR | c.1349C= (p.Ala450=) c.866C= (p.Ala289=) c.761C= (p.Ala254=) | |
3 | g.122262384C>G | CA354153265 | CASR | c.1349C>G (p.Ala450Gly) c.866C>G (p.Ala289Gly) c.761C>G (p.Ala254Gly) | gnomAD v4 |
3 | g.122262384C>T | CA354153263 | CASR | c.1349C>T (p.Ala450Val) c.866C>T (p.Ala289Val) c.761C>T (p.Ala254Val) | dbSNP gnomAD v2 |
3 | g.122262385A>C | CA435425064 | CASR | c.1350A>C (p.Ala450=) c.867A>C (p.Ala289=) c.762A>C (p.Ala254=) | |
3 | g.122262385A>G | CA435425066 | CASR | c.1350A>G (p.Ala450=) c.867A>G (p.Ala289=) c.762A>G (p.Ala254=) | |
3 | g.122262385A>T | CA435425068 | CASR | c.1350A>T (p.Ala450=) c.867A>T (p.Ala289=) c.762A>T (p.Ala254=) | |
3 | g.122262386G>A | CA2569625 | CASR | c.1351G>A (p.Asp451Asn) c.868G>A (p.Asp290Asn) c.763G>A (p.Asp255Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262386G>C | CA354153268 | CASR | c.1351G>C (p.Asp451His) c.868G>C (p.Asp290His) c.763G>C (p.Asp255His) | |
3 | g.122262386G= | CA1397873975 | CASR | c.1351G= (p.Asp451=) c.868G= (p.Asp290=) c.763G= (p.Asp255=) | |
3 | g.122262386G>T | CA354153270 | CASR | c.1351G>T (p.Asp451Tyr) c.868G>T (p.Asp290Tyr) c.763G>T (p.Asp255Tyr) | ClinVar dbSNP |
3 | g.122262387A>C | CA354153274 | CASR | c.1352A>C (p.Asp451Ala) c.869A>C (p.Asp290Ala) c.764A>C (p.Asp255Ala) | |
3 | g.122262387A>G | CA354153276 | CASR | c.1352A>G (p.Asp451Gly) c.869A>G (p.Asp290Gly) c.764A>G (p.Asp255Gly) | |
3 | g.122262387A>T | CA354153278 | CASR | c.1352A>T (p.Asp451Val) c.869A>T (p.Asp290Val) c.764A>T (p.Asp255Val) | gnomAD v4 |
3 | g.122262388C>A | CA354153281 | CASR | c.1353C>A (p.Asp451Glu) c.870C>A (p.Asp290Glu) c.765C>A (p.Asp255Glu) | |
3 | g.122262388C= | CA1397873977 | CASR | c.1353C= (p.Asp451=) c.870C= (p.Asp290=) c.765C= (p.Asp255=) | |
3 | g.122262388C>G | CA354153283 | CASR | c.1353C>G (p.Asp451Glu) c.870C>G (p.Asp290Glu) c.765C>G (p.Asp255Glu) | |
3 | g.122262388C>T | CA435425073 | CASR | c.1353C>T (p.Asp451=) c.870C>T (p.Asp290=) c.765C>T (p.Asp255=) | ClinVar dbSNP |
3 | g.122262389A= | CA1397873980 | CASR | c.1354A= (p.Ile452=) c.871A= (p.Ile291=) c.766A= (p.Ile256=) | |
3 | g.122262389A>C | CA354153285 | CASR | c.1354A>C (p.Ile452Leu) c.871A>C (p.Ile291Leu) c.766A>C (p.Ile256Leu) | |
3 | g.122262389A>G | CA2569626 | CASR | c.1354A>G (p.Ile452Val) c.871A>G (p.Ile291Val) c.766A>G (p.Ile256Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262389A>T | CA354153289 | CASR | c.1354A>T (p.Ile452Phe) c.871A>T (p.Ile291Phe) c.766A>T (p.Ile256Phe) | ClinVar |
3 | g.122262390T>A | CA354153297 | CASR | c.1355T>A (p.Ile452Asn) c.872T>A (p.Ile291Asn) c.767T>A (p.Ile256Asn) | ClinVar |
3 | g.122262390T>C | CA354153294 | CASR | c.1355T>C (p.Ile452Thr) c.872T>C (p.Ile291Thr) c.767T>C (p.Ile256Thr) | |
3 | g.122262390T>G | CA354153292 | CASR | c.1355T>G (p.Ile452Ser) c.872T>G (p.Ile291Ser) c.767T>G (p.Ile256Ser) | |
3 | g.122262391C>A | CA435425081 | CASR | c.1356C>A (p.Ile452=) c.873C>A (p.Ile291=) c.768C>A (p.Ile256=) | dbSNP |
3 | g.122262391C= | CA1397873984 | CASR | c.1356C= (p.Ile452=) c.873C= (p.Ile291=) c.768C= (p.Ile256=) | |
3 | g.122262391C>G | CA354153299 | CASR | c.1356C>G (p.Ile452Met) c.873C>G (p.Ile291Met) c.768C>G (p.Ile256Met) | |
3 | g.122262391C>T | CA435425084 | CASR | c.1356C>T (p.Ile452=) c.873C>T (p.Ile291=) c.768C>T (p.Ile256=) | |
3 | g.122262392A>C | CA354153302 | CASR | c.1357A>C (p.Lys453Gln) c.874A>C (p.Lys292Gln) c.769A>C (p.Lys257Gln) | |
3 | g.122262392A>G | CA354153305 | CASR | c.1357A>G (p.Lys453Glu) c.874A>G (p.Lys292Glu) c.769A>G (p.Lys257Glu) | |
3 | g.122262392A>T | CA354153308 | CASR | c.1357A>T (p.Lys453Ter) c.874A>T (p.Lys292Ter) c.769A>T (p.Lys257Ter) | |
3 | g.122262393A>C | CA354153310 | CASR | c.1358A>C (p.Lys453Thr) c.875A>C (p.Lys292Thr) c.770A>C (p.Lys257Thr) | |
3 | g.122262393A>G | CA354153314 | CASR | c.1358A>G (p.Lys453Arg) c.875A>G (p.Lys292Arg) c.770A>G (p.Lys257Arg) | |
3 | g.122262393A>T | CA354153317 | CASR | c.1358A>T (p.Lys453Met) c.875A>T (p.Lys292Met) c.770A>T (p.Lys257Met) | |
3 | g.122262394G>A | CA435425091 | CASR | c.1359G>A (p.Lys453=) c.876G>A (p.Lys292=) c.771G>A (p.Lys257=) | |
3 | g.122262394G>C | CA354153319 | CASR | c.1359G>C (p.Lys453Asn) c.876G>C (p.Lys292Asn) c.771G>C (p.Lys257Asn) | |
3 | g.122262394G>T | CA354153321 | CASR | c.1359G>T (p.Lys453Asn) c.876G>T (p.Lys292Asn) c.771G>T (p.Lys257Asn) | gnomAD v4 |
3 | g.122262395A= | CA1397873987 | CASR | c.1360A= (p.Lys454=) c.877A= (p.Lys293=) c.772A= (p.Lys258=) | |
3 | g.122262395A>C | CA354153324 | CASR | c.1360A>C (p.Lys454Gln) c.877A>C (p.Lys293Gln) c.772A>C (p.Lys258Gln) | |
3 | g.122262395A>G | CA82739149 | CASR | c.1360A>G (p.Lys454Glu) c.877A>G (p.Lys293Glu) c.772A>G (p.Lys258Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.122262395A>T | CA354153328 | CASR | c.1360A>T (p.Lys454Ter) c.877A>T (p.Lys293Ter) c.772A>T (p.Lys258Ter) | |
3 | g.122262396A>C | CA354153337 | CASR | c.1361A>C (p.Lys454Thr) c.878A>C (p.Lys293Thr) c.773A>C (p.Lys258Thr) | |
3 | g.122262396A>G | CA354153335 | CASR | c.1361A>G (p.Lys454Arg) c.878A>G (p.Lys293Arg) c.773A>G (p.Lys258Arg) | gnomAD v4 |
3 | g.122262396A>T | CA354153333 | CASR | c.1361A>T (p.Lys454Ile) c.878A>T (p.Lys293Ile) c.773A>T (p.Lys258Ile) | gnomAD v4 |
3 | g.122262397A>C | CA354153341 | CASR | c.1362A>C (p.Lys454Asn) c.879A>C (p.Lys293Asn) c.774A>C (p.Lys258Asn) | |
3 | g.122262397A>G | CA435425103 | CASR | c.1362A>G (p.Lys454=) c.879A>G (p.Lys293=) c.774A>G (p.Lys258=) | |
3 | g.122262397A>T | CA354153343 | CASR | c.1362A>T (p.Lys454Asn) c.879A>T (p.Lys293Asn) c.774A>T (p.Lys258Asn) | |
3 | g.122262398G>A | CA354153346 | CASR | c.1363G>A (p.Val455Ile) c.880G>A (p.Val294Ile) c.775G>A (p.Val259Ile) | |
3 | g.122262398G>C | CA354153348 | CASR | c.1363G>C (p.Val455Leu) c.880G>C (p.Val294Leu) c.775G>C (p.Val259Leu) | ClinVar dbSNP |
3 | g.122262398G>T | CA354153350 | CASR | c.1363G>T (p.Val455Phe) c.880G>T (p.Val294Phe) c.775G>T (p.Val259Phe) | gnomAD v4 |
3 | g.122262399T>A | CA354153353 | CASR | c.1364T>A (p.Val455Asp) c.881T>A (p.Val294Asp) c.776T>A (p.Val259Asp) | |
3 | g.122262399T>C | CA354153365 | CASR | c.1364T>C (p.Val455Ala) c.881T>C (p.Val294Ala) c.776T>C (p.Val259Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122262399T>G | CA354153366 | CASR | c.1364T>G (p.Val455Gly) c.881T>G (p.Val294Gly) c.776T>G (p.Val259Gly) | |
3 | g.122262400T>A | CA435425116 | CASR | c.1365T>A (p.Val455=) c.882T>A (p.Val294=) c.777T>A (p.Val259=) | |
3 | g.122262400T>C | CA435425118 | CASR | c.1365T>C (p.Val455=) c.882T>C (p.Val294=) c.777T>C (p.Val259=) | |
3 | g.122262400T>G | CA435425121 | CASR | c.1365T>G (p.Val455=) c.882T>G (p.Val294=) c.777T>G (p.Val259=) | |
3 | g.122262401G>A | CA354153373 | CASR | c.1366G>A (p.Glu456Lys) c.883G>A (p.Glu295Lys) c.778G>A (p.Glu260Lys) | COSMIC |
3 | g.122262401G>C | CA354153369 | CASR | c.1366G>C (p.Glu456Gln) c.883G>C (p.Glu295Gln) c.778G>C (p.Glu260Gln) | |
3 | g.122262401G>T | CA354153371 | CASR | c.1366G>T (p.Glu456Ter) c.883G>T (p.Glu295Ter) c.778G>T (p.Glu260Ter) | |
3 | g.122262402A= | CA1397873990 | CASR | c.1367A= (p.Glu456=) c.884A= (p.Glu295=) c.779A= (p.Glu260=) | |
3 | g.122262402A>C | CA354153376 | CASR | c.1367A>C (p.Glu456Ala) c.884A>C (p.Glu295Ala) c.779A>C (p.Glu260Ala) | |
3 | g.122262402A>G | CA354153378 | CASR | c.1367A>G (p.Glu456Gly) c.884A>G (p.Glu295Gly) c.779A>G (p.Glu260Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262402A>T | CA354153380 | CASR | c.1367A>T (p.Glu456Val) c.884A>T (p.Glu295Val) c.779A>T (p.Glu260Val) | |
3 | g.122262402_122262403delinsAG | CA1397873991 | CASR | c.1367_1368delinsAG (p.Glu456=) c.884_885delinsAG (p.Glu295=) c.779_780delinsAG (p.Glu260=) | |
3 | g.122262403G>A | CA435425130 | CASR | c.1368G>A (p.Glu456=) c.885G>A (p.Glu295=) c.780G>A (p.Glu260=) | |
3 | g.122262403G>C | CA354153382 | CASR | c.1368G>C (p.Glu456Asp) c.885G>C (p.Glu295Asp) c.780G>C (p.Glu260Asp) | |
3 | g.122262403G>T | CA354153383 | CASR | c.1368G>T (p.Glu456Asp) c.885G>T (p.Glu295Asp) c.780G>T (p.Glu260Asp) | |
3 | g.122262404del | CA1397873993 | CASR | c.1369del (p.Ala457ArgfsTer?) c.1369del (p.Ala457ArgfsTer5) c.886del (p.Ala296ArgfsTer5) c.781del (p.Ala261ArgfsTer5) | dbSNP |
3 | g.122262404G>A | CA354153385 | CASR | c.1369G>A (p.Ala457Thr) c.886G>A (p.Ala296Thr) c.781G>A (p.Ala261Thr) | |
3 | g.122262404G>C | CA354153391 | CASR | c.1369G>C (p.Ala457Pro) c.886G>C (p.Ala296Pro) c.781G>C (p.Ala261Pro) | |
3 | g.122262404G>T | CA354153388 | CASR | c.1369G>T (p.Ala457Ser) c.886G>T (p.Ala296Ser) c.781G>T (p.Ala261Ser) | |
3 | g.122262405C>A | CA354153393 | CASR | c.1370C>A (p.Ala457Glu) c.887C>A (p.Ala296Glu) c.782C>A (p.Ala261Glu) | gnomAD v4 |
3 | g.122262405C= | CA1397873997 | CASR | c.1370C= (p.Ala457=) c.887C= (p.Ala296=) c.782C= (p.Ala261=) | |
3 | g.122262405C>G | CA354153395 | CASR | c.1370C>G (p.Ala457Gly) c.887C>G (p.Ala296Gly) c.782C>G (p.Ala261Gly) | |
3 | g.122262405C>T | CA354153398 | CASR | c.1370C>T (p.Ala457Val) c.887C>T (p.Ala296Val) c.782C>T (p.Ala261Val) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122262406G>A | CA2569627 | CASR | c.1371G>A (p.Ala457=) c.888G>A (p.Ala296=) c.783G>A (p.Ala261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122262406G>C | CA435251119 | CASR | c.1371G>C (p.Ala457=) c.888G>C (p.Ala296=) c.783G>C (p.Ala261=) | |
3 | g.122262406G= | CA1397874000 | CASR | c.1371G= (p.Ala457=) c.888G= (p.Ala296=) c.783G= (p.Ala261=) | |
3 | g.122262406G>T | CA435251120 | CASR | c.1371G>T (p.Ala457=) c.888G>T (p.Ala296=) c.783G>T (p.Ala261=) | |
3 | g.122262407T>A | CA354153402 | CASR | c.1372T>A (p.Trp458Arg) c.889T>A (p.Trp297Arg) c.784T>A (p.Trp262Arg) | |
3 | g.122262407T>C | CA354153404 | CASR | c.1372T>C (p.Trp458Arg) c.889T>C (p.Trp297Arg) c.784T>C (p.Trp262Arg) | |
3 | g.122262407T>G | CA354153405 | CASR | c.1372T>G (p.Trp458Gly) c.889T>G (p.Trp297Gly) c.784T>G (p.Trp262Gly) | |
3 | g.122262408G>A | CA354153407 | CASR | c.1373G>A (p.Trp458Ter) c.890G>A (p.Trp297Ter) c.785G>A (p.Trp262Ter) | |
3 | g.122262408G>C | CA354153409 | CASR | c.1373G>C (p.Trp458Ser) c.890G>C (p.Trp297Ser) c.785G>C (p.Trp262Ser) | |
3 | g.122262408G>T | CA354153411 | CASR | c.1373G>T (p.Trp458Leu) c.890G>T (p.Trp297Leu) c.785G>T (p.Trp262Leu) | gnomAD v4 |
3 | g.122262409G>A | CA354153418 | CASR | c.1374G>A (p.Trp458Ter) c.891G>A (p.Trp297Ter) c.786G>A (p.Trp262Ter) | |
3 | g.122262409G>C | CA354153416 | CASR | c.1374G>C (p.Trp458Cys) c.891G>C (p.Trp297Cys) c.786G>C (p.Trp262Cys) | |
3 | g.122262409G>T | CA354153414 | CASR | c.1374G>T (p.Trp458Cys) c.891G>T (p.Trp297Cys) c.786G>T (p.Trp262Cys) | gnomAD v4 |
3 | g.122262410C>A | CA354153420 | CASR | c.1375C>A (p.Gln459Lys) c.892C>A (p.Gln298Lys) c.787C>A (p.Gln263Lys) | ClinVar dbSNP |
3 | g.122262410C= | CA1397874002 | CASR | c.1375C= (p.Gln459=) c.892C= (p.Gln298=) c.787C= (p.Gln263=) | |
3 | g.122262410C>G | CA354153423 | CASR | c.1375C>G (p.Gln459Glu) c.892C>G (p.Gln298Glu) c.787C>G (p.Gln263Glu) | |
3 | g.122262410C>T | CA354153424 | CASR | c.1375C>T (p.Gln459Ter) c.892C>T (p.Gln298Ter) c.787C>T (p.Gln263Ter) | |
3 | g.122262411A>C | CA354153428 | CASR | c.1376A>C (p.Gln459Pro) c.893A>C (p.Gln298Pro) c.788A>C (p.Gln263Pro) | |
3 | g.122262411A>G | CA354153430 | CASR | c.1376A>G (p.Gln459Arg) c.893A>G (p.Gln298Arg) c.788A>G (p.Gln263Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122262411A>T | CA354153432 | CASR | c.1376A>T (p.Gln459Leu) c.893A>T (p.Gln298Leu) c.788A>T (p.Gln263Leu) | |
3 | g.122262412G>A | CA2569628 | CASR | c.1377G>A (p.Gln459=) c.894G>A (p.Gln298=) c.789G>A (p.Gln263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262412G>C | CA354153435 | CASR | c.1377G>C (p.Gln459His) c.894G>C (p.Gln298His) c.789G>C (p.Gln263His) | |
3 | g.122262412G= | CA1397874003 | CASR | c.1377G= (p.Gln459=) c.894G= (p.Gln298=) c.789G= (p.Gln263=) | |
3 | g.122262412G>T | CA354153437 | CASR | c.1377G>T (p.Gln459His) c.894G>T (p.Gln298His) c.789G>T (p.Gln263His) | ClinVar |
3 | g.122262413G>A | CA354153441 | CASR | c.1377+1G>A (n.1377+1G>A) c.894+1G>A (n.894+1G>A) c.789+1G>A (n.789+1G>A) | ClinVar |
3 | g.122262413G>C | CA354153442 | CASR | c.1377+1G>C (n.1377+1G>C) c.894+1G>C (n.894+1G>C) c.789+1G>C (n.789+1G>C) | |
3 | g.122262413G= | CA1397874007 | CASR | c.1377+1G= (n.1377+1G=) c.894+1G= (n.894+1G=) c.789+1G= (n.789+1G=) | |
3 | g.122262413G>T | CA354153444 | CASR | c.1377+1G>T (n.1377+1G>T) c.894+1G>T (n.894+1G>T) c.789+1G>T (n.789+1G>T) | ClinVar dbSNP |
3 | g.122262414T>A | CA354153451 | CASR | c.1377+2T>A (n.1377+2T>A) c.894+2T>A (n.894+2T>A) c.789+2T>A (n.789+2T>A) | ClinVar dbSNP |
3 | g.122262414T>C | CA354153448 | CASR | c.1377+2T>C (n.1377+2T>C) c.894+2T>C (n.894+2T>C) c.789+2T>C (n.789+2T>C) | |
3 | g.122262414T>G | CA2569629 | CASR | c.1377+2T>G (n.1377+2T>G) c.894+2T>G (n.894+2T>G) c.789+2T>G (n.789+2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262414T= | CA1397874009 | CASR | c.1377+2T= (n.1377+2T=) c.894+2T= (n.894+2T=) c.789+2T= (n.789+2T=) | |
3 | g.122262415G>A | CA82739153 | CASR | c.1377+3G>A (n.1377+3G>A) c.894+3G>A (n.894+3G>A) c.789+3G>A (n.789+3G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262415G= | CA1397874015 | CASR | c.1377+3G= (n.1377+3G=) c.894+3G= (n.894+3G=) c.789+3G= (n.789+3G=) | |
3 | g.122262416C>A | CA2667225198 | CASR | c.1377+4C>A (n.1377+4C>A) c.894+4C>A (n.894+4C>A) c.789+4C>A (n.789+4C>A) | gnomAD v4 |
3 | g.122262416C= | CA1397874017 | CASR | c.1377+4C= (n.1377+4C=) c.894+4C= (n.894+4C=) c.789+4C= (n.789+4C=) | |
3 | g.122262416C>G | CA545644631 | CASR | c.1377+4C>G (n.1377+4C>G) c.894+4C>G (n.894+4C>G) c.789+4C>G (n.789+4C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262416C>T | CA2573136462 | CASR | c.1377+4C>T (n.1377+4C>T) c.894+4C>T (n.894+4C>T) c.789+4C>T (n.789+4C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.122262417G>A | CA2577870024 | CASR | c.1377+5G>A (n.1377+5G>A) c.894+5G>A (n.894+5G>A) c.789+5G>A (n.789+5G>A) | dbSNP gnomAD v4 |
3 | g.122262417G= | CA1397874021 | CASR | c.1377+5G= (n.1377+5G=) c.894+5G= (n.894+5G=) c.789+5G= (n.789+5G=) | |
3 | g.122262417G>T | CA1052938175 | CASR | c.1377+5G>T (n.1377+5G>T) c.894+5G>T (n.894+5G>T) c.789+5G>T (n.789+5G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122262418T>A | CA2703657976 | CASR | c.1377+6T>A (n.1377+6T>A) c.894+6T>A (n.894+6T>A) c.789+6T>A (n.789+6T>A) | dbSNP |
3 | g.122262418T>C | CA545644633 | CASR | c.1377+6T>C (n.1377+6T>C) c.894+6T>C (n.894+6T>C) c.789+6T>C (n.789+6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122262418T>G | CA1397874025 | CASR | c.1377+6T>G (n.1377+6T>G) c.894+6T>G (n.894+6T>G) c.789+6T>G (n.789+6T>G) | dbSNP |
3 | g.122262418T= | CA1397874023 | CASR | c.1377+6T= (n.1377+6T=) c.894+6T= (n.894+6T=) c.789+6T= (n.789+6T=) | |
3 | g.122262419C>A | CA1397874028 | CASR | c.1377+7C>A (n.1377+7C>A) c.894+7C>A (n.894+7C>A) c.789+7C>A (n.789+7C>A) | dbSNP |
3 | g.122262419C= | CA1397874027 | CASR | c.1377+7C= (n.1377+7C=) c.894+7C= (n.894+7C=) c.789+7C= (n.789+7C=) | |
3 | g.122262419C>T | CA2667225207 | CASR | c.1377+7C>T (n.1377+7C>T) c.894+7C>T (n.894+7C>T) c.789+7C>T (n.789+7C>T) | gnomAD v4 |
3 | g.122262420C>A | CA2840081050 | CASR | c.1377+8C>A (n.1377+8C>A) c.894+8C>A (n.894+8C>A) c.789+8C>A (n.789+8C>A) | |
3 | g.122262420C= | CA1397874030 | CASR | c.1377+8C= (n.1377+8C=) c.894+8C= (n.894+8C=) c.789+8C= (n.789+8C=) | |
3 | g.122262420C>T | CA2569630 | CASR | c.1377+8C>T (n.1377+8C>T) c.894+8C>T (n.894+8C>T) c.789+8C>T (n.789+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122262421T>C | CA545644635 | CASR | c.1377+9T>C (n.1377+9T>C) c.894+9T>C (n.894+9T>C) c.789+9T>C (n.789+9T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122262421T= | CA1397874034 | CASR | c.1377+9T= (n.1377+9T=) c.894+9T= (n.894+9T=) c.789+9T= (n.789+9T=) |