| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122275959G>A | CA213564 | CASR | c.1378-6154G>A (n.1378-6154G>A) c.1525G>A (p.Gly509Arg) c.1042G>A (p.Gly348Arg) c.937G>A (p.Gly313Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122275959G>C | CA354155286 | CASR | c.1378-6154G>C (n.1378-6154G>C) c.1525G>C (p.Gly509Arg) c.1042G>C (p.Gly348Arg) c.937G>C (p.Gly313Arg) | ClinVar dbSNP |
| 3 | g.122275959G= | CA1397883155 | CASR | c.1378-6154G= (n.1378-6154G=) c.1525G= (p.Gly509=) c.1042G= (p.Gly348=) c.937G= (p.Gly313=) | |
| 3 | g.122275959G>T | CA354155287 | CASR | c.1378-6154G>T (n.1378-6154G>T) c.1525G>T (p.Gly509Trp) c.1042G>T (p.Gly348Trp) c.937G>T (p.Gly313Trp) | |
| 3 | g.122275960G>A | CA16611121 | CASR | c.1378-6153G>A (n.1378-6153G>A) c.1526G>A (p.Gly509Glu) c.1043G>A (p.Gly348Glu) c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
| 3 | g.122275960G>C | CA354155288 | CASR | c.1378-6153G>C (n.1378-6153G>C) c.1526G>C (p.Gly509Ala) c.1043G>C (p.Gly348Ala) c.938G>C (p.Gly313Ala) | ClinVar gnomAD v4 |
| 3 | g.122275960G= | CA1397883156 | CASR | c.1378-6153G= (n.1378-6153G=) c.1526G= (p.Gly509=) c.1043G= (p.Gly348=) c.938G= (p.Gly313=) | |
| 3 | g.122275960G>T | CA354155289 | CASR | c.1378-6153G>T (n.1378-6153G>T) c.1526G>T (p.Gly509Val) c.1043G>T (p.Gly348Val) c.938G>T (p.Gly313Val) | |
| 3 | g.122275961G>A | CA435425038 | CASR | c.1378-6152G>A (n.1378-6152G>A) c.1527G>A (p.Gly509=) c.1044G>A (p.Gly348=) c.939G>A (p.Gly313=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122275961G>C | CA435425039 | CASR | c.1378-6152G>C (n.1378-6152G>C) c.1527G>C (p.Gly509=) c.1044G>C (p.Gly348=) c.939G>C (p.Gly313=) | |
| 3 | g.122275961G>T | CA435425040 | CASR | c.1378-6152G>T (n.1378-6152G>T) c.1527G>T (p.Gly509=) c.1044G>T (p.Gly348=) c.939G>T (p.Gly313=) | gnomAD v4 |
| 3 | g.122275962T>A | CA354155290 | CASR | c.1378-6151T>A (n.1378-6151T>A) c.1528T>A (p.Tyr510Asn) c.1045T>A (p.Tyr349Asn) c.940T>A (p.Tyr314Asn) | |
| 3 | g.122275962T>C | CA354155291 | CASR | c.1378-6151T>C (n.1378-6151T>C) c.1528T>C (p.Tyr510His) c.1045T>C (p.Tyr349His) c.940T>C (p.Tyr314His) | |
| 3 | g.122275962T>G | CA354155292 | CASR | c.1378-6151T>G (n.1378-6151T>G) c.1528T>G (p.Tyr510Asp) c.1045T>G (p.Tyr349Asp) c.940T>G (p.Tyr314Asp) | |
| 3 | g.122275963A= | CA1397883157 | CASR | c.1378-6150A= (n.1378-6150A=) c.1529A= (p.Tyr510=) c.1046A= (p.Tyr349=) c.941A= (p.Tyr314=) | |
| 3 | g.122275963A>C | CA354155293 | CASR | c.1378-6150A>C (n.1378-6150A>C) c.1529A>C (p.Tyr510Ser) c.1046A>C (p.Tyr349Ser) c.941A>C (p.Tyr314Ser) | |
| 3 | g.122275963A>G | CA2569673 | CASR | c.1378-6150A>G (n.1378-6150A>G) c.1529A>G (p.Tyr510Cys) c.1046A>G (p.Tyr349Cys) c.941A>G (p.Tyr314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122275963A>T | CA354155294 | CASR | c.1378-6150A>T (n.1378-6150A>T) c.1529A>T (p.Tyr510Phe) c.1046A>T (p.Tyr349Phe) c.941A>T (p.Tyr314Phe) | |
| 3 | g.122275964T>A | CA354155296 | CASR | c.1378-6149T>A (n.1378-6149T>A) c.1530T>A (p.Tyr510Ter) c.1047T>A (p.Tyr349Ter) c.942T>A (p.Tyr314Ter) | |
| 3 | g.122275964T>C | CA435425043 | CASR | c.1378-6149T>C (n.1378-6149T>C) c.1530T>C (p.Tyr510=) c.1047T>C (p.Tyr349=) c.942T>C (p.Tyr314=) | |
| 3 | g.122275964T>G | CA354155295 | CASR | c.1378-6149T>G (n.1378-6149T>G) c.1530T>G (p.Tyr510Ter) c.1047T>G (p.Tyr349Ter) c.942T>G (p.Tyr314Ter) | |
| 3 | g.122275965T>A | CA354155297 | CASR | c.1378-6148T>A (n.1378-6148T>A) c.1531T>A (p.Tyr511Asn) c.1048T>A (p.Tyr350Asn) c.943T>A (p.Tyr315Asn) | gnomAD v4 |
| 3 | g.122275965T>C | CA354155298 | CASR | c.1378-6148T>C (n.1378-6148T>C) c.1531T>C (p.Tyr511His) c.1048T>C (p.Tyr350His) c.943T>C (p.Tyr315His) | |
| 3 | g.122275965T>G | CA354155299 | CASR | c.1378-6148T>G (n.1378-6148T>G) c.1531T>G (p.Tyr511Asp) c.1048T>G (p.Tyr350Asp) c.943T>G (p.Tyr315Asp) | |
| 3 | g.122275966A>C | CA354155300 | CASR | c.1378-6147A>C (n.1378-6147A>C) c.1532A>C (p.Tyr511Ser) c.1049A>C (p.Tyr350Ser) c.944A>C (p.Tyr315Ser) | |
| 3 | g.122275966A>G | CA354155301 | CASR | c.1378-6147A>G (n.1378-6147A>G) c.1532A>G (p.Tyr511Cys) c.1049A>G (p.Tyr350Cys) c.944A>G (p.Tyr315Cys) | |
| 3 | g.122275966A>T | CA354155303 | CASR | c.1378-6147A>T (n.1378-6147A>T) c.1532A>T (p.Tyr511Phe) c.1049A>T (p.Tyr350Phe) c.944A>T (p.Tyr315Phe) | |
| 3 | g.122275967C>A | CA354155305 | CASR | c.1378-6146C>A (n.1378-6146C>A) c.1533C>A (p.Tyr511Ter) c.1050C>A (p.Tyr350Ter) c.945C>A (p.Tyr315Ter) | |
| 3 | g.122275967C>G | CA354155307 | CASR | c.1378-6146C>G (n.1378-6146C>G) c.1533C>G (p.Tyr511Ter) c.1050C>G (p.Tyr350Ter) c.945C>G (p.Tyr315Ter) | |
| 3 | g.122275967C>T | CA435425051 | CASR | c.1378-6146C>T (n.1378-6146C>T) c.1533C>T (p.Tyr511=) c.1050C>T (p.Tyr350=) c.945C>T (p.Tyr315=) | gnomAD v4 |
| 3 | g.122275968A= | CA1397883158 | CASR | c.1378-6145A= (n.1378-6145A=) c.1534A= (p.Asn512=) c.1051A= (p.Asn351=) c.946A= (p.Asn316=) | |
| 3 | g.122275968A>C | CA354155309 | CASR | c.1378-6145A>C (n.1378-6145A>C) c.1534A>C (p.Asn512His) c.1051A>C (p.Asn351His) c.946A>C (p.Asn316His) | |
| 3 | g.122275968A>G | CA354155311 | CASR | c.1378-6145A>G (n.1378-6145A>G) c.1534A>G (p.Asn512Asp) c.1051A>G (p.Asn351Asp) c.946A>G (p.Asn316Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275968A>T | CA354155313 | CASR | c.1378-6145A>T (n.1378-6145A>T) c.1534A>T (p.Asn512Tyr) c.1051A>T (p.Asn351Tyr) c.946A>T (p.Asn316Tyr) | |
| 3 | g.122275969A>C | CA354155314 | CASR | c.1378-6144A>C (n.1378-6144A>C) c.1535A>C (p.Asn512Thr) c.1052A>C (p.Asn351Thr) c.947A>C (p.Asn316Thr) | |
| 3 | g.122275969A>G | CA354155315 | CASR | c.1378-6144A>G (n.1378-6144A>G) c.1535A>G (p.Asn512Ser) c.1052A>G (p.Asn351Ser) c.947A>G (p.Asn316Ser) | dbSNP |
| 3 | g.122275969A>T | CA354155317 | CASR | c.1378-6144A>T (n.1378-6144A>T) c.1535A>T (p.Asn512Ile) c.1052A>T (p.Asn351Ile) c.947A>T (p.Asn316Ile) | |
| 3 | g.122275970C>A | CA354155321 | CASR | c.1378-6143C>A (n.1378-6143C>A) c.1536C>A (p.Asn512Lys) c.1053C>A (p.Asn351Lys) c.948C>A (p.Asn316Lys) | |
| 3 | g.122275970C= | CA1397883159 | CASR | c.1378-6143C= (n.1378-6143C=) c.1536C= (p.Asn512=) c.1053C= (p.Asn351=) c.948C= (p.Asn316=) | |
| 3 | g.122275970C>G | CA354155319 | CASR | c.1378-6143C>G (n.1378-6143C>G) c.1536C>G (p.Asn512Lys) c.1053C>G (p.Asn351Lys) c.948C>G (p.Asn316Lys) | |
| 3 | g.122275970C>T | CA82745987 | CASR | c.1378-6143C>T (n.1378-6143C>T) c.1536C>T (p.Asn512=) c.1053C>T (p.Asn351=) c.948C>T (p.Asn316=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275971G>A | CA82745990 | CASR | c.1378-6142G>A (n.1378-6142G>A) c.1537G>A (p.Val513Ile) c.1054G>A (p.Val352Ile) c.949G>A (p.Val317Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122275971G>C | CA354155324 | CASR | c.1378-6142G>C (n.1378-6142G>C) c.1537G>C (p.Val513Leu) c.1054G>C (p.Val352Leu) c.949G>C (p.Val317Leu) | |
| 3 | g.122275971G= | CA1397883160 | CASR | c.1378-6142G= (n.1378-6142G=) c.1537G= (p.Val513=) c.1054G= (p.Val352=) c.949G= (p.Val317=) | |
| 3 | g.122275971G>T | CA354155326 | CASR | c.1378-6142G>T (n.1378-6142G>T) c.1537G>T (p.Val513Phe) c.1054G>T (p.Val352Phe) c.949G>T (p.Val317Phe) | |
| 3 | g.122275972T>A | CA354155328 | CASR | c.1378-6141T>A (n.1378-6141T>A) c.1538T>A (p.Val513Asp) c.1055T>A (p.Val352Asp) c.950T>A (p.Val317Asp) | dbSNP |
| 3 | g.122275972T>C | CA354155330 | CASR | c.1378-6141T>C (n.1378-6141T>C) c.1538T>C (p.Val513Ala) c.1055T>C (p.Val352Ala) c.950T>C (p.Val317Ala) | |
| 3 | g.122275972T>G | CA354155332 | CASR | c.1378-6141T>G (n.1378-6141T>G) c.1538T>G (p.Val513Gly) c.1055T>G (p.Val352Gly) c.950T>G (p.Val317Gly) | |
| 3 | g.122275972T= | CA1397883161 | CASR | c.1378-6141T= (n.1378-6141T=) c.1538T= (p.Val513=) c.1055T= (p.Val352=) c.950T= (p.Val317=) | |
| 3 | g.122275973C>A | CA435424556 | CASR | c.1378-6140C>A (n.1378-6140C>A) c.1539C>A (p.Val513=) c.1056C>A (p.Val352=) c.951C>A (p.Val317=) |