| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67711511_67711527delinsCAGAA | CA2695234358 | AR | c.*343_*359delinsCAGAA (n.*343_*359delinsCAGAA) c.1995_2011delinsCAGAA (p.Glu666_Gln671delinsArgLys) c.622_638delinsCAGAA (n.622_638delinsCAGAA) c.399_415delinsCAGAA (p.Glu134_Gln139delinsArgLys) c.1425_1441delinsCAGAA (p.Glu476_Gln481delinsArgLys) | |
| X | g.67711522A>C | CA413423205 | AR | c.*354A>C (n.*354A>C) c.2006A>C (p.Glu669Ala) c.633A>C (n.633A>C) c.410A>C (p.Glu137Ala) c.1436A>C (p.Glu479Ala) | |
| X | g.67711522A>G | CA413423206 | AR | c.*354A>G (n.*354A>G) c.2006A>G (p.Glu669Gly) c.633A>G (n.633A>G) c.410A>G (p.Glu137Gly) c.1436A>G (p.Glu479Gly) | gnomAD v4 |
| X | g.67711522A>T | CA413423207 | AR | c.*354A>T (n.*354A>T) c.2006A>T (p.Glu669Val) c.633A>T (n.633A>T) c.410A>T (p.Glu137Val) c.1436A>T (p.Glu479Val) | dbSNP |
| X | g.67711523A>C | CA413423208 | AR | c.*355A>C (n.*355A>C) c.2007A>C (p.Glu669Asp) c.634A>C (n.634A>C) c.411A>C (p.Glu137Asp) c.1437A>C (p.Glu479Asp) | |
| X | g.67711523A>G | CA517048296 | AR | c.*355A>G (n.*355A>G) c.2007A>G (p.Glu669=) c.634A>G (n.634A>G) c.411A>G (p.Glu137=) c.1437A>G (p.Glu479=) | gnomAD v4 |
| X | g.67711523A>T | CA413423209 | AR | c.*355A>T (n.*355A>T) c.2007A>T (p.Glu669Asp) c.634A>T (n.634A>T) c.411A>T (p.Glu137Asp) c.1437A>T (p.Glu479Asp) | dbSNP |
| X | g.67711524T>A | CA413423210 | AR | c.*356T>A (n.*356T>A) c.2008T>A (p.Cys670Ser) c.635T>A (n.635T>A) c.412T>A (p.Cys138Ser) c.1438T>A (p.Cys480Ser) | dbSNP gnomAD v4 |
| X | g.67711524T>C | CA413423211 | AR | c.*356T>C (n.*356T>C) c.2008T>C (p.Cys670Arg) c.635T>C (n.635T>C) c.412T>C (p.Cys138Arg) c.1438T>C (p.Cys480Arg) | |
| X | g.67711524T>G | CA413423212 | AR | c.*356T>G (n.*356T>G) c.2008T>G (p.Cys670Gly) c.635T>G (n.635T>G) c.412T>G (p.Cys138Gly) c.1438T>G (p.Cys480Gly) | dbSNP |
| X | g.67711525G>A | CA413423213 | AR | c.*357G>A (n.*357G>A) c.2009G>A (p.Cys670Tyr) c.636G>A (n.636G>A) c.413G>A (p.Cys138Tyr) c.1439G>A (p.Cys480Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711525G>C | CA413423215 | AR | c.*357G>C (n.*357G>C) c.2009G>C (p.Cys670Ser) c.636G>C (n.636G>C) c.413G>C (p.Cys138Ser) c.1439G>C (p.Cys480Ser) | dbSNP |
| X | g.67711525G= | CA2435130475 | AR | c.*357G= (n.*357G=) c.2009G= (p.Cys670=) c.636G= (n.636G=) c.413G= (p.Cys138=) c.1439G= (p.Cys480=) | |
| X | g.67711525G>T | CA413423214 | AR | c.*357G>T (n.*357G>T) c.2009G>T (p.Cys670Phe) c.636G>T (n.636G>T) c.413G>T (p.Cys138Phe) c.1439G>T (p.Cys480Phe) | |
| X | g.67711525dup | CA2695234359 | AR | c.*357dup (n.*357dup) c.2009dup (p.Cys670TrpfsTer13) c.636dup (n.636dup) c.413dup (p.Cys138TrpfsTer13) c.1439dup (p.Cys480TrpfsTer13) | |
| X | g.67711526T>A | CA413423216 | AR | c.*358T>A (n.*358T>A) c.2010T>A (p.Cys670Ter) c.637T>A (n.637T>A) c.414T>A (p.Cys138Ter) c.1440T>A (p.Cys480Ter) | dbSNP |
| X | g.67711526T>C | CA517048302 | AR | c.*358T>C (n.*358T>C) c.2010T>C (p.Cys670=) c.637T>C (n.637T>C) c.414T>C (p.Cys138=) c.1440T>C (p.Cys480=) | dbSNP |
| X | g.67711526T>G | CA413423217 | AR | c.*358T>G (n.*358T>G) c.2010T>G (p.Cys670Trp) c.637T>G (n.637T>G) c.414T>G (p.Cys138Trp) c.1440T>G (p.Cys480Trp) | dbSNP |
| X | g.67711527C>A | CA413423218 | AR | c.*359C>A (n.*359C>A) c.2011C>A (p.Gln671Lys) c.638C>A (n.638C>A) c.415C>A (p.Gln139Lys) c.1441C>A (p.Gln481Lys) | dbSNP |
| X | g.67711527C>G | CA413423219 | AR | c.*359C>G (n.*359C>G) c.2011C>G (p.Gln671Glu) c.638C>G (n.638C>G) c.415C>G (p.Gln139Glu) c.1441C>G (p.Gln481Glu) | dbSNP |
| X | g.67711527C>T | CA413423220 | AR | c.*359C>T (n.*359C>T) c.2011C>T (p.Gln671Ter) c.638C>T (n.638C>T) c.415C>T (p.Gln139Ter) c.1441C>T (p.Gln481Ter) | dbSNP |
| X | g.67711528A>C | CA413423221 | AR | c.*360A>C (n.*360A>C) c.2012A>C (p.Gln671Pro) c.639A>C (n.639A>C) c.416A>C (p.Gln139Pro) c.1442A>C (p.Gln481Pro) | |
| X | g.67711528A>G | CA413423222 | AR | c.*360A>G (n.*360A>G) c.2012A>G (p.Gln671Arg) c.639A>G (n.639A>G) c.416A>G (p.Gln139Arg) c.1442A>G (p.Gln481Arg) | dbSNP COSMIC |
| X | g.67711528A>T | CA413423223 | AR | c.*360A>T (n.*360A>T) c.2012A>T (p.Gln671Leu) c.639A>T (n.639A>T) c.416A>T (p.Gln139Leu) c.1442A>T (p.Gln481Leu) | dbSNP COSMIC COSMIC |
| X | g.67711529G>A | CA517048307 | AR | c.*361G>A (n.*361G>A) c.2013G>A (p.Gln671=) c.640G>A (n.640G>A) c.417G>A (p.Gln139=) c.1443G>A (p.Gln481=) | |
| X | g.67711529G>C | CA330771344 | AR | c.*361G>C (n.*361G>C) c.2013G>C (p.Gln671His) c.640G>C (n.640G>C) c.417G>C (p.Gln139His) c.1443G>C (p.Gln481His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711529G= | CA2435130476 | AR | c.*361G= (n.*361G=) c.2013G= (p.Gln671=) c.640G= (n.640G=) c.417G= (p.Gln139=) c.1443G= (p.Gln481=) | |
| X | g.67711529G>T | CA413423224 | AR | c.*361G>T (n.*361G>T) c.2013G>T (p.Gln671His) c.640G>T (n.640G>T) c.417G>T (p.Gln139His) c.1443G>T (p.Gln481His) | |
| X | g.67711530C>A | CA413423227 | AR | c.*362C>A (n.*362C>A) c.2014C>A (p.Pro672Thr) c.641C>A (n.641C>A) c.418C>A (p.Pro140Thr) c.1444C>A (p.Pro482Thr) | dbSNP |
| X | g.67711530C>G | CA413423226 | AR | c.*362C>G (n.*362C>G) c.2014C>G (p.Pro672Ala) c.641C>G (n.641C>G) c.418C>G (p.Pro140Ala) c.1444C>G (p.Pro482Ala) | dbSNP |
| X | g.67711530C>T | CA413423225 | AR | c.*362C>T (n.*362C>T) c.2014C>T (p.Pro672Ser) c.641C>T (n.641C>T) c.418C>T (p.Pro140Ser) c.1444C>T (p.Pro482Ser) | dbSNP |
| X | g.67711532del | CA2738708463 | AR | c.*364del (n.*364del) c.2016del (p.Ile673SerfsTer3) c.643del (n.643del) c.420del (p.Ile141SerfsTer3) c.1446del (p.Ile483SerfsTer3) | dbSNP |
| X | g.67711531C>A | CA413423228 | AR | c.*363C>A (n.*363C>A) c.2015C>A (p.Pro672His) c.642C>A (n.642C>A) c.419C>A (p.Pro140His) c.1445C>A (p.Pro482His) | dbSNP |
| X | g.67711531C>G | CA413423230 | AR | c.*363C>G (n.*363C>G) c.2015C>G (p.Pro672Arg) c.642C>G (n.642C>G) c.419C>G (p.Pro140Arg) c.1445C>G (p.Pro482Arg) | dbSNP |
| X | g.67711531C>T | CA413423229 | AR | c.*363C>T (n.*363C>T) c.2015C>T (p.Pro672Leu) c.642C>T (n.642C>T) c.419C>T (p.Pro140Leu) c.1445C>T (p.Pro482Leu) | dbSNP |
| X | g.67711532C>A | CA10436566 | AR | c.*364C>A (n.*364C>A) c.2016C>A (p.Pro672=) c.643C>A (n.643C>A) c.420C>A (p.Pro140=) c.1446C>A (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711532C= | CA2435130477 | AR | c.*364C= (n.*364C=) c.2016C= (p.Pro672=) c.643C= (n.643C=) c.420C= (p.Pro140=) c.1446C= (p.Pro482=) | |
| X | g.67711532C>G | CA517048311 | AR | c.*364C>G (n.*364C>G) c.2016C>G (p.Pro672=) c.643C>G (n.643C>G) c.420C>G (p.Pro140=) c.1446C>G (p.Pro482=) | dbSNP |
| X | g.67711532C>T | CA517048313 | AR | c.*364C>T (n.*364C>T) c.2016C>T (p.Pro672=) c.643C>T (n.643C>T) c.420C>T (p.Pro140=) c.1446C>T (p.Pro482=) | dbSNP |
| X | g.67711533A= | CA2435130478 | AR | c.*365A= (n.*365A=) c.2017A= (p.Ile673=) c.644A= (n.644A=) c.421A= (p.Ile141=) c.1447A= (p.Ile483=) | |
| X | g.67711533A>C | CA413423231 | AR | c.*365A>C (n.*365A>C) c.2017A>C (p.Ile673Leu) c.644A>C (n.644A>C) c.421A>C (p.Ile141Leu) c.1447A>C (p.Ile483Leu) | dbSNP |
| X | g.67711533A>G | CA10436567 | AR | c.*365A>G (n.*365A>G) c.2017A>G (p.Ile673Val) c.644A>G (n.644A>G) c.421A>G (p.Ile141Val) c.1447A>G (p.Ile483Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711533A>T | CA413423232 | AR | c.*365A>T (n.*365A>T) c.2017A>T (p.Ile673Phe) c.644A>T (n.644A>T) c.421A>T (p.Ile141Phe) c.1447A>T (p.Ile483Phe) | dbSNP |
| X | g.67711534T>A | CA413423233 | AR | c.*366T>A (n.*366T>A) c.2018T>A (p.Ile673Asn) c.645T>A (n.645T>A) c.422T>A (p.Ile141Asn) c.1448T>A (p.Ile483Asn) | dbSNP |
| X | g.67711534T>C | CA413423234 | AR | c.*366T>C (n.*366T>C) c.2018T>C (p.Ile673Thr) c.645T>C (n.645T>C) c.422T>C (p.Ile141Thr) c.1448T>C (p.Ile483Thr) | dbSNP COSMIC |
| X | g.67711534T>G | CA413423235 | AR | c.*366T>G (n.*366T>G) c.2018T>G (p.Ile673Ser) c.645T>G (n.645T>G) c.422T>G (p.Ile141Ser) c.1448T>G (p.Ile483Ser) | dbSNP |
| X | g.67711535C>A | CA517048314 | AR | c.*367C>A (n.*367C>A) c.2019C>A (p.Ile673=) c.646C>A (n.646C>A) c.423C>A (p.Ile141=) c.1449C>A (p.Ile483=) | |
| X | g.67711535C>G | CA413423236 | AR | c.*367C>G (n.*367C>G) c.2019C>G (p.Ile673Met) c.646C>G (n.646C>G) c.423C>G (p.Ile141Met) c.1449C>G (p.Ile483Met) | |
| X | g.67711535C>T | CA517048315 | AR | c.*367C>T (n.*367C>T) c.2019C>T (p.Ile673=) c.646C>T (n.646C>T) c.423C>T (p.Ile141=) c.1449C>T (p.Ile483=) | dbSNP |
| X | g.67711536T>A | CA413423237 | AR | c.*368T>A (n.*368T>A) c.2020T>A (p.Phe674Ile) c.647T>A (n.647T>A) c.424T>A (p.Phe142Ile) c.1450T>A (p.Phe484Ile) | dbSNP |
| X | g.67711536T>C | CA413423238 | AR | c.*368T>C (n.*368T>C) c.2020T>C (p.Phe674Leu) c.647T>C (n.647T>C) c.424T>C (p.Phe142Leu) c.1450T>C (p.Phe484Leu) | dbSNP |
| X | g.67711536T>G | CA413423239 | AR | c.*368T>G (n.*368T>G) c.2020T>G (p.Phe674Val) c.647T>G (n.647T>G) c.424T>G (p.Phe142Val) c.1450T>G (p.Phe484Val) | |
| X | g.67711537T>A | CA413423240 | AR | c.*369T>A (n.*369T>A) c.2021T>A (p.Phe674Tyr) c.648T>A (n.648T>A) c.425T>A (p.Phe142Tyr) c.1451T>A (p.Phe484Tyr) | dbSNP |
| X | g.67711537T>C | CA413423241 | AR | c.*369T>C (n.*369T>C) c.2021T>C (p.Phe674Ser) c.648T>C (n.648T>C) c.425T>C (p.Phe142Ser) c.1451T>C (p.Phe484Ser) | ClinVar dbSNP |
| X | g.67711537T>G | CA413423242 | AR | c.*369T>G (n.*369T>G) c.2021T>G (p.Phe674Cys) c.648T>G (n.648T>G) c.425T>G (p.Phe142Cys) c.1451T>G (p.Phe484Cys) | |
| X | g.67711537T= | CA2435130479 | AR | c.*369T= (n.*369T=) c.2021T= (p.Phe674=) c.648T= (n.648T=) c.425T= (p.Phe142=) c.1451T= (p.Phe484=) | |
| X | g.67711538T>A | CA413423245 | AR | c.*370T>A (n.*370T>A) c.2022T>A (p.Phe674Leu) c.649T>A (n.649T>A) c.426T>A (p.Phe142Leu) c.1452T>A (p.Phe484Leu) | |
| X | g.67711538T>C | CA517048322 | AR | c.*370T>C (n.*370T>C) c.2022T>C (p.Phe674=) c.649T>C (n.649T>C) c.426T>C (p.Phe142=) c.1452T>C (p.Phe484=) | |
| X | g.67711538T>G | CA413423244 | AR | c.*370T>G (n.*370T>G) c.2022T>G (p.Phe674Leu) c.649T>G (n.649T>G) c.426T>G (p.Phe142Leu) c.1452T>G (p.Phe484Leu) | |
| X | g.67711539C>A | CA413423246 | AR | c.*371C>A (n.*371C>A) c.2023C>A (p.Leu675Met) c.650C>A (n.650C>A) c.427C>A (p.Leu143Met) c.1453C>A (p.Leu485Met) | dbSNP |
| X | g.67711539C>G | CA413423247 | AR | c.*371C>G (n.*371C>G) c.2023C>G (p.Leu675Val) c.650C>G (n.650C>G) c.427C>G (p.Leu143Val) c.1453C>G (p.Leu485Val) | dbSNP |
| X | g.67711539C>T | CA517048323 | AR | c.*371C>T (n.*371C>T) c.2023C>T (p.Leu675=) c.650C>T (n.650C>T) c.427C>T (p.Leu143=) c.1453C>T (p.Leu485=) | dbSNP |
| X | g.67711540T>A | CA413423248 | AR | c.*372T>A (n.*372T>A) c.2024T>A (p.Leu675Gln) c.651T>A (n.651T>A) c.428T>A (p.Leu143Gln) c.1454T>A (p.Leu485Gln) | dbSNP |
| X | g.67711540T>C | CA413423249 | AR | c.*372T>C (n.*372T>C) c.2024T>C (p.Leu675Pro) c.651T>C (n.651T>C) c.428T>C (p.Leu143Pro) c.1454T>C (p.Leu485Pro) | dbSNP COSMIC COSMIC |
| X | g.67711540T>G | CA413423250 | AR | c.*372T>G (n.*372T>G) c.2024T>G (p.Leu675Arg) c.651T>G (n.651T>G) c.428T>G (p.Leu143Arg) c.1454T>G (p.Leu485Arg) | |
| X | g.67711541G>A | CA517048325 | AR | c.*373G>A (n.*373G>A) c.2025G>A (p.Leu675=) c.652G>A (n.652G>A) c.429G>A (p.Leu143=) c.1455G>A (p.Leu485=) | dbSNP |
| X | g.67711541G>C | CA517048326 | AR | c.*373G>C (n.*373G>C) c.2025G>C (p.Leu675=) c.652G>C (n.652G>C) c.429G>C (p.Leu143=) c.1455G>C (p.Leu485=) | dbSNP |
| X | g.67711541G>T | CA517048328 | AR | c.*373G>T (n.*373G>T) c.2025G>T (p.Leu675=) c.652G>T (n.652G>T) c.429G>T (p.Leu143=) c.1455G>T (p.Leu485=) | dbSNP |
| X | g.67711542A>C | CA413423251 | AR | c.*374A>C (n.*374A>C) c.2026A>C (p.Asn676His) c.653A>C (n.653A>C) c.430A>C (p.Asn144His) c.1456A>C (p.Asn486His) | |
| X | g.67711542A>G | CA413423252 | AR | c.*374A>G (n.*374A>G) c.2026A>G (p.Asn676Asp) c.653A>G (n.653A>G) c.430A>G (p.Asn144Asp) c.1456A>G (p.Asn486Asp) | |
| X | g.67711542A>T | CA413423253 | AR | c.*374A>T (n.*374A>T) c.2026A>T (p.Asn676Tyr) c.653A>T (n.653A>T) c.430A>T (p.Asn144Tyr) c.1456A>T (p.Asn486Tyr) | dbSNP |
| X | g.67711543A>C | CA413423254 | AR | c.*375A>C (n.*375A>C) c.2027A>C (p.Asn676Thr) c.654A>C (n.654A>C) c.431A>C (p.Asn144Thr) c.1457A>C (p.Asn486Thr) | dbSNP |
| X | g.67711543A>G | CA413423255 | AR | c.*375A>G (n.*375A>G) c.2027A>G (p.Asn676Ser) c.654A>G (n.654A>G) c.431A>G (p.Asn144Ser) c.1457A>G (p.Asn486Ser) | dbSNP gnomAD v4 |
| X | g.67711543A>T | CA413423256 | AR | c.*375A>T (n.*375A>T) c.2027A>T (p.Asn676Ile) c.654A>T (n.654A>T) c.431A>T (p.Asn144Ile) c.1457A>T (p.Asn486Ile) | dbSNP |
| X | g.67711544T>A | CA413423257 | AR | c.*376T>A (n.*376T>A) c.2028T>A (p.Asn676Lys) c.655T>A (n.655T>A) c.432T>A (p.Asn144Lys) c.1458T>A (p.Asn486Lys) | dbSNP |
| X | g.67711544T>C | CA517048333 | AR | c.*376T>C (n.*376T>C) c.2028T>C (p.Asn676=) c.655T>C (n.655T>C) c.432T>C (p.Asn144=) c.1458T>C (p.Asn486=) | dbSNP |
| X | g.67711544T>G | CA413423258 | AR | c.*376T>G (n.*376T>G) c.2028T>G (p.Asn676Lys) c.655T>G (n.655T>G) c.432T>G (p.Asn144Lys) c.1458T>G (p.Asn486Lys) | dbSNP |
| X | g.67711545G>A | CA413423259 | AR | c.*377G>A (n.*377G>A) c.2029G>A (p.Val677Ile) c.656G>A (n.656G>A) c.433G>A (p.Val145Ile) c.1459G>A (p.Val487Ile) | dbSNP |
| X | g.67711545G>C | CA413423261 | AR | c.*377G>C (n.*377G>C) c.2029G>C (p.Val677Leu) c.656G>C (n.656G>C) c.433G>C (p.Val145Leu) c.1459G>C (p.Val487Leu) | dbSNP |
| X | g.67711545G>T | CA413423260 | AR | c.*377G>T (n.*377G>T) c.2029G>T (p.Val677Phe) c.656G>T (n.656G>T) c.433G>T (p.Val145Phe) c.1459G>T (p.Val487Phe) | |
| X | g.67711546T>A | CA413423262 | AR | c.*378T>A (n.*378T>A) c.2030T>A (p.Val677Asp) c.657T>A (n.657T>A) c.434T>A (p.Val145Asp) c.1460T>A (p.Val487Asp) | |
| X | g.67711546T>C | CA413423263 | AR | c.*378T>C (n.*378T>C) c.2030T>C (p.Val677Ala) c.657T>C (n.657T>C) c.434T>C (p.Val145Ala) c.1460T>C (p.Val487Ala) | |
| X | g.67711546T>G | CA413423264 | AR | c.*378T>G (n.*378T>G) c.2030T>G (p.Val677Gly) c.657T>G (n.657T>G) c.434T>G (p.Val145Gly) c.1460T>G (p.Val487Gly) | |
| X | g.67711547C>A | CA517048336 | AR | c.*379C>A (n.*379C>A) c.2031C>A (p.Val677=) c.658C>A (n.658C>A) c.435C>A (p.Val145=) c.1461C>A (p.Val487=) | dbSNP COSMIC COSMIC |
| X | g.67711547C= | CA2435130480 | AR | c.*379C= (n.*379C=) c.2031C= (p.Val677=) c.658C= (n.658C=) c.435C= (p.Val145=) c.1461C= (p.Val487=) | |
| X | g.67711547C>G | CA517048338 | AR | c.*379C>G (n.*379C>G) c.2031C>G (p.Val677=) c.658C>G (n.658C>G) c.435C>G (p.Val145=) c.1461C>G (p.Val487=) | dbSNP |
| X | g.67711547C>T | CA517048339 | AR | c.*379C>T (n.*379C>T) c.2031C>T (p.Val677=) c.658C>T (n.658C>T) c.435C>T (p.Val145=) c.1461C>T (p.Val487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711548C>A | CA413423265 | AR | c.*380C>A (n.*380C>A) c.2032C>A (p.Leu678Met) c.659C>A (n.659C>A) c.436C>A (p.Leu146Met) c.1462C>A (p.Leu488Met) | dbSNP |
| X | g.67711548C>G | CA413423266 | AR | c.*380C>G (n.*380C>G) c.2032C>G (p.Leu678Val) c.659C>G (n.659C>G) c.436C>G (p.Leu146Val) c.1462C>G (p.Leu488Val) | dbSNP |
| X | g.67711548C>T | CA517048341 | AR | c.*380C>T (n.*380C>T) c.2032C>T (p.Leu678=) c.659C>T (n.659C>T) c.436C>T (p.Leu146=) c.1462C>T (p.Leu488=) | dbSNP |
| X | g.67711549T>A | CA413423267 | AR | c.*381T>A (n.*381T>A) c.2033T>A (p.Leu678Gln) c.660T>A (n.660T>A) c.437T>A (p.Leu146Gln) c.1463T>A (p.Leu488Gln) | |
| X | g.67711549T>C | CA120740 | AR | c.*381T>C (n.*381T>C) c.2033T>C (p.Leu678Pro) c.660T>C (n.660T>C) c.437T>C (p.Leu146Pro) c.1463T>C (p.Leu488Pro) | ClinVar dbSNP |
| X | g.67711549T>G | CA413423268 | AR | c.*381T>G (n.*381T>G) c.2033T>G (p.Leu678Arg) c.660T>G (n.660T>G) c.437T>G (p.Leu146Arg) c.1463T>G (p.Leu488Arg) | |
| X | g.67711549T= | CA2435130481 | AR | c.*381T= (n.*381T=) c.2033T= (p.Leu678=) c.660T= (n.660T=) c.437T= (p.Leu146=) c.1463T= (p.Leu488=) | |
| X | g.67711550G>A | CA517048344 | AR | c.*382G>A (n.*382G>A) c.2034G>A (p.Leu678=) c.661G>A (n.661G>A) c.438G>A (p.Leu146=) c.1464G>A (p.Leu488=) | dbSNP |
| X | g.67711550G>C | CA517048343 | AR | c.*382G>C (n.*382G>C) c.2034G>C (p.Leu678=) c.661G>C (n.661G>C) c.438G>C (p.Leu146=) c.1464G>C (p.Leu488=) | dbSNP |
| X | g.67711550G>T | CA517048342 | AR | c.*382G>T (n.*382G>T) c.2034G>T (p.Leu678=) c.661G>T (n.661G>T) c.438G>T (p.Leu146=) c.1464G>T (p.Leu488=) | |
| X | g.67711551G>A | CA413423269 | AR | c.*383G>A (n.*383G>A) c.2035G>A (p.Glu679Lys) c.662G>A (n.662G>A) c.439G>A (p.Glu147Lys) c.1465G>A (p.Glu489Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711551G>C | CA413423270 | AR | c.*383G>C (n.*383G>C) c.2035G>C (p.Glu679Gln) c.662G>C (n.662G>C) c.439G>C (p.Glu147Gln) c.1465G>C (p.Glu489Gln) | dbSNP |
| X | g.67711551G= | CA2435130482 | AR | c.*383G= (n.*383G=) c.2035G= (p.Glu679=) c.662G= (n.662G=) c.439G= (p.Glu147=) c.1465G= (p.Glu489=) | |
| X | g.67711551G>T | CA413423271 | AR | c.*383G>T (n.*383G>T) c.2035G>T (p.Glu679Ter) c.662G>T (n.662G>T) c.439G>T (p.Glu147Ter) c.1465G>T (p.Glu489Ter) | dbSNP |
| X | g.67711552A>C | CA413423274 | AR | c.*384A>C (n.*384A>C) c.2036A>C (p.Glu679Ala) c.663A>C (n.663A>C) c.440A>C (p.Glu147Ala) c.1466A>C (p.Glu489Ala) | |
| X | g.67711552A>G | CA413423273 | AR | c.*384A>G (n.*384A>G) c.2036A>G (p.Glu679Gly) c.663A>G (n.663A>G) c.440A>G (p.Glu147Gly) c.1466A>G (p.Glu489Gly) | dbSNP |
| X | g.67711552A>T | CA413423272 | AR | c.*384A>T (n.*384A>T) c.2036A>T (p.Glu679Val) c.663A>T (n.663A>T) c.440A>T (p.Glu147Val) c.1466A>T (p.Glu489Val) | dbSNP |
| X | g.67711552_67711570delinsAAGCCATTGAGCCAGGTGT | CA2435130483 | AR | c.*384_*402delinsAAGCCATTGAGCCAGGTGT (n.*384_*402delinsAAGCCATTGAGCCAGGTGT) c.2036_2054delinsAAGCCATTGAGCCAGGTGT (p.Glu679=) c.663_681delinsAAGCCATTGAGCCAGGTGT (n.663_681delinsAAGCCATTGAGCCAGGTGT) c.440_458delinsAAGCCATTGAGCCAGGTGT (p.Glu147=) c.1466_1484delinsAAGCCATTGAGCCAGGTGT (p.Glu489=) | |
| X | g.67711553A= | CA2435130484 | AR | c.*385A= (n.*385A=) c.2037A= (p.Glu679=) c.664A= (n.664A=) c.441A= (p.Glu147=) c.1467A= (p.Glu489=) | |
| X | g.67711553A>C | CA413423275 | AR | c.*385A>C (n.*385A>C) c.2037A>C (p.Glu679Asp) c.664A>C (n.664A>C) c.441A>C (p.Glu147Asp) c.1467A>C (p.Glu489Asp) | ClinVar dbSNP |
| X | g.67711553A>G | CA517048350 | AR | c.*385A>G (n.*385A>G) c.2037A>G (p.Glu679=) c.664A>G (n.664A>G) c.441A>G (p.Glu147=) c.1467A>G (p.Glu489=) | dbSNP |
| X | g.67711553A>T | CA413423276 | AR | c.*385A>T (n.*385A>T) c.2037A>T (p.Glu679Asp) c.664A>T (n.664A>T) c.441A>T (p.Glu147Asp) c.1467A>T (p.Glu489Asp) | dbSNP |
| X | g.67711555_67711572del | CA16043328 | AR | c.*387_*404del (n.*387_*404del) c.2039_2056del (p.Ala680_Val685del) c.666_683del (n.666_683del) c.443_460del (p.Ala148_Val153del) c.1469_1486del (p.Ala490_Val495del) | ClinVar dbSNP |
| X | g.67711554G>A | CA413423277 | AR | c.*386G>A (n.*386G>A) c.2038G>A (p.Ala680Thr) c.665G>A (n.665G>A) c.442G>A (p.Ala148Thr) c.1468G>A (p.Ala490Thr) | dbSNP |
| X | g.67711554G>C | CA413423278 | AR | c.*386G>C (n.*386G>C) c.2038G>C (p.Ala680Pro) c.665G>C (n.665G>C) c.442G>C (p.Ala148Pro) c.1468G>C (p.Ala490Pro) | dbSNP |
| X | g.67711554G>T | CA413423279 | AR | c.*386G>T (n.*386G>T) c.2038G>T (p.Ala680Ser) c.665G>T (n.665G>T) c.442G>T (p.Ala148Ser) c.1468G>T (p.Ala490Ser) | |
| X | g.67711555C>A | CA413423280 | AR | c.*387C>A (n.*387C>A) c.2039C>A (p.Ala680Asp) c.666C>A (n.666C>A) c.443C>A (p.Ala148Asp) c.1469C>A (p.Ala490Asp) | |
| X | g.67711555C= | CA2435130485 | AR | c.*387C= (n.*387C=) c.2039C= (p.Ala680=) c.666C= (n.666C=) c.443C= (p.Ala148=) c.1469C= (p.Ala490=) | |
| X | g.67711555C>G | CA10436569 | AR | c.*387C>G (n.*387C>G) c.2039C>G (p.Ala680Gly) c.666C>G (n.666C>G) c.443C>G (p.Ala148Gly) c.1469C>G (p.Ala490Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711555C>T | CA10436568 | AR | c.*387C>T (n.*387C>T) c.2039C>T (p.Ala680Val) c.666C>T (n.666C>T) c.443C>T (p.Ala148Val) c.1469C>T (p.Ala490Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711556C>A | CA517048352 | AR | c.*388C>A (n.*388C>A) c.2040C>A (p.Ala680=) c.667C>A (n.667C>A) c.444C>A (p.Ala148=) c.1470C>A (p.Ala490=) | dbSNP |
| X | g.67711556C>G | CA517048355 | AR | c.*388C>G (n.*388C>G) c.2040C>G (p.Ala680=) c.667C>G (n.667C>G) c.444C>G (p.Ala148=) c.1470C>G (p.Ala490=) | dbSNP |
| X | g.67711556C>T | CA517048357 | AR | c.*388C>T (n.*388C>T) c.2040C>T (p.Ala680=) c.667C>T (n.667C>T) c.444C>T (p.Ala148=) c.1470C>T (p.Ala490=) | |
| X | g.67711557A>C | CA413423281 | AR | c.*389A>C (n.*389A>C) c.2041A>C (p.Ile681Leu) c.668A>C (n.668A>C) c.445A>C (p.Ile149Leu) c.1471A>C (p.Ile491Leu) | dbSNP |
| X | g.67711557A>G | CA413423282 | AR | c.*389A>G (n.*389A>G) c.2041A>G (p.Ile681Val) c.668A>G (n.668A>G) c.445A>G (p.Ile149Val) c.1471A>G (p.Ile491Val) | dbSNP |
| X | g.67711557A>T | CA413423283 | AR | c.*389A>T (n.*389A>T) c.2041A>T (p.Ile681Phe) c.668A>T (n.668A>T) c.445A>T (p.Ile149Phe) c.1471A>T (p.Ile491Phe) | dbSNP |
| X | g.67711558T>A | CA413423286 | AR | c.*390T>A (n.*390T>A) c.2042T>A (p.Ile681Asn) c.669T>A (n.669T>A) c.446T>A (p.Ile149Asn) c.1472T>A (p.Ile491Asn) | ClinVar dbSNP |
| X | g.67711558T>C | CA413423285 | AR | c.*390T>C (n.*390T>C) c.2042T>C (p.Ile681Thr) c.669T>C (n.669T>C) c.446T>C (p.Ile149Thr) c.1472T>C (p.Ile491Thr) | ClinVar dbSNP |
| X | g.67711558T>G | CA413423284 | AR | c.*390T>G (n.*390T>G) c.2042T>G (p.Ile681Ser) c.669T>G (n.669T>G) c.446T>G (p.Ile149Ser) c.1472T>G (p.Ile491Ser) | dbSNP |
| X | g.67711558T= | CA2435130486 | AR | c.*390T= (n.*390T=) c.2042T= (p.Ile681=) c.669T= (n.669T=) c.446T= (p.Ile149=) c.1472T= (p.Ile491=) | |
| X | g.67711559T>A | CA517048358 | AR | c.*391T>A (n.*391T>A) c.2043T>A (p.Ile681=) c.670T>A (n.670T>A) c.447T>A (p.Ile149=) c.1473T>A (p.Ile491=) | dbSNP |
| X | g.67711559T>C | CA517048359 | AR | c.*391T>C (n.*391T>C) c.2043T>C (p.Ile681=) c.670T>C (n.670T>C) c.447T>C (p.Ile149=) c.1473T>C (p.Ile491=) | dbSNP |
| X | g.67711559T>G | CA413423287 | AR | c.*391T>G (n.*391T>G) c.2043T>G (p.Ile681Met) c.670T>G (n.670T>G) c.447T>G (p.Ile149Met) c.1473T>G (p.Ile491Met) | dbSNP |
| X | g.67711560G>A | CA413423290 | AR | c.*392G>A (n.*392G>A) c.2044G>A (p.Glu682Lys) c.671G>A (n.671G>A) c.448G>A (p.Glu150Lys) c.1474G>A (p.Glu492Lys) | ClinVar dbSNP COSMIC |
| X | g.67711560G>C | CA413423288 | AR | c.*392G>C (n.*392G>C) c.2044G>C (p.Glu682Gln) c.671G>C (n.671G>C) c.448G>C (p.Glu150Gln) c.1474G>C (p.Glu492Gln) | dbSNP |
| X | g.67711560G= | CA2435130487 | AR | c.*392G= (n.*392G=) c.2044G= (p.Glu682=) c.671G= (n.671G=) c.448G= (p.Glu150=) c.1474G= (p.Glu492=) | |
| X | g.67711560G>T | CA413423289 | AR | c.*392G>T (n.*392G>T) c.2044G>T (p.Glu682Ter) c.671G>T (n.671G>T) c.448G>T (p.Glu150Ter) c.1474G>T (p.Glu492Ter) | dbSNP |
| X | g.67711561A>C | CA413423291 | AR | c.*393A>C (n.*393A>C) c.2045A>C (p.Glu682Ala) c.672A>C (n.672A>C) c.449A>C (p.Glu150Ala) c.1475A>C (p.Glu492Ala) | |
| X | g.67711561A>G | CA413423292 | AR | c.*393A>G (n.*393A>G) c.2045A>G (p.Glu682Gly) c.672A>G (n.672A>G) c.449A>G (p.Glu150Gly) c.1475A>G (p.Glu492Gly) | dbSNP |
| X | g.67711561A>T | CA413423293 | AR | c.*393A>T (n.*393A>T) c.2045A>T (p.Glu682Val) c.672A>T (n.672A>T) c.449A>T (p.Glu150Val) c.1475A>T (p.Glu492Val) | dbSNP |
| X | g.67711562G>A | CA517048366 | AR | c.*394G>A (n.*394G>A) c.2046G>A (p.Glu682=) c.673G>A (n.673G>A) c.450G>A (p.Glu150=) c.1476G>A (p.Glu492=) | dbSNP gnomAD v4 |
| X | g.67711562G>C | CA413423294 | AR | c.*394G>C (n.*394G>C) c.2046G>C (p.Glu682Asp) c.673G>C (n.673G>C) c.450G>C (p.Glu150Asp) c.1476G>C (p.Glu492Asp) | |
| X | g.67711562G>T | CA413423295 | AR | c.*394G>T (n.*394G>T) c.2046G>T (p.Glu682Asp) c.673G>T (n.673G>T) c.450G>T (p.Glu150Asp) c.1476G>T (p.Glu492Asp) | COSMIC COSMIC COSMIC |
| X | g.67711563C>A | CA413423296 | AR | c.*395C>A (n.*395C>A) c.2047C>A (p.Pro683Thr) c.674C>A (n.674C>A) c.451C>A (p.Pro151Thr) c.1477C>A (p.Pro493Thr) | dbSNP |
| X | g.67711563C= | CA2435130488 | AR | c.*395C= (n.*395C=) c.2047C= (p.Pro683=) c.674C= (n.674C=) c.451C= (p.Pro151=) c.1477C= (p.Pro493=) | |
| X | g.67711563C>G | CA413423297 | AR | c.*395C>G (n.*395C>G) c.2047C>G (p.Pro683Ala) c.674C>G (n.674C>G) c.451C>G (p.Pro151Ala) c.1477C>G (p.Pro493Ala) | dbSNP |
| X | g.67711563C>T | CA413423298 | AR | c.*395C>T (n.*395C>T) c.2047C>T (p.Pro683Ser) c.674C>T (n.674C>T) c.451C>T (p.Pro151Ser) c.1477C>T (p.Pro493Ser) | ClinVar dbSNP |
| X | g.67711564C>A | CA413423299 | AR | c.*396C>A (n.*396C>A) c.2048C>A (p.Pro683Gln) c.675C>A (n.675C>A) c.452C>A (p.Pro151Gln) c.1478C>A (p.Pro493Gln) | dbSNP |
| X | g.67711564C>G | CA413423300 | AR | c.*396C>G (n.*396C>G) c.2048C>G (p.Pro683Arg) c.675C>G (n.675C>G) c.452C>G (p.Pro151Arg) c.1478C>G (p.Pro493Arg) | dbSNP |
| X | g.67711564C>T | CA413423301 | AR | c.*396C>T (n.*396C>T) c.2048C>T (p.Pro683Leu) c.675C>T (n.675C>T) c.452C>T (p.Pro151Leu) c.1478C>T (p.Pro493Leu) | dbSNP |
| X | g.67711565A>C | CA517048367 | AR | c.*397A>C (n.*397A>C) c.2049A>C (p.Pro683=) c.676A>C (n.676A>C) c.453A>C (p.Pro151=) c.1479A>C (p.Pro493=) | |
| X | g.67711565A>G | CA517048370 | AR | c.*397A>G (n.*397A>G) c.2049A>G (p.Pro683=) c.676A>G (n.676A>G) c.453A>G (p.Pro151=) c.1479A>G (p.Pro493=) | dbSNP |
| X | g.67711565A>T | CA517048371 | AR | c.*397A>T (n.*397A>T) c.2049A>T (p.Pro683=) c.676A>T (n.676A>T) c.453A>T (p.Pro151=) c.1479A>T (p.Pro493=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711566G>A | CA330771345 | AR | c.*398G>A (n.*398G>A) c.2050G>A (p.Gly684Ser) c.677G>A (n.677G>A) c.454G>A (p.Gly152Ser) c.1480G>A (p.Gly494Ser) | dbSNP |
| X | g.67711566G>C | CA413423303 | AR | c.*398G>C (n.*398G>C) c.2050G>C (p.Gly684Arg) c.677G>C (n.677G>C) c.454G>C (p.Gly152Arg) c.1480G>C (p.Gly494Arg) | dbSNP |
| X | g.67711566G= | CA2435130489 | AR | c.*398G= (n.*398G=) c.2050G= (p.Gly684=) c.677G= (n.677G=) c.454G= (p.Gly152=) c.1480G= (p.Gly494=) | |
| X | g.67711566G>T | CA413423302 | AR | c.*398G>T (n.*398G>T) c.2050G>T (p.Gly684Cys) c.677G>T (n.677G>T) c.454G>T (p.Gly152Cys) c.1480G>T (p.Gly494Cys) | dbSNP |
| X | g.67711567G>A | CA413423304 | AR | c.*399G>A (n.*399G>A) c.2051G>A (p.Gly684Asp) c.678G>A (n.678G>A) c.455G>A (p.Gly152Asp) c.1481G>A (p.Gly494Asp) | dbSNP |
| X | g.67711567G>C | CA413423305 | AR | c.*399G>C (n.*399G>C) c.2051G>C (p.Gly684Ala) c.678G>C (n.678G>C) c.455G>C (p.Gly152Ala) c.1481G>C (p.Gly494Ala) | dbSNP |
| X | g.67711567G>T | CA413423306 | AR | c.*399G>T (n.*399G>T) c.2051G>T (p.Gly684Val) c.678G>T (n.678G>T) c.455G>T (p.Gly152Val) c.1481G>T (p.Gly494Val) | dbSNP |
| X | g.67711568T>A | CA517048375 | AR | c.*400T>A (n.*400T>A) c.2052T>A (p.Gly684=) c.679T>A (n.679T>A) c.456T>A (p.Gly152=) c.1482T>A (p.Gly494=) | dbSNP |
| X | g.67711568T>C | CA10436570 | AR | c.*400T>C (n.*400T>C) c.2052T>C (p.Gly684=) c.679T>C (n.679T>C) c.456T>C (p.Gly152=) c.1482T>C (p.Gly494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711568T>G | CA517048376 | AR | c.*400T>G (n.*400T>G) c.2052T>G (p.Gly684=) c.679T>G (n.679T>G) c.456T>G (p.Gly152=) c.1482T>G (p.Gly494=) | dbSNP |
| X | g.67711568T= | CA2435130490 | AR | c.*400T= (n.*400T=) c.2052T= (p.Gly684=) c.679T= (n.679T=) c.456T= (p.Gly152=) c.1482T= (p.Gly494=) | |
| X | g.67711569G>A | CA413423307 | AR | c.*401G>A (n.*401G>A) c.2053G>A (p.Val685Ile) c.680G>A (n.680G>A) c.457G>A (p.Val153Ile) c.1483G>A (p.Val495Ile) | ClinVar dbSNP |
| X | g.67711569G>C | CA413423308 | AR | c.*401G>C (n.*401G>C) c.2053G>C (p.Val685Leu) c.680G>C (n.680G>C) c.457G>C (p.Val153Leu) c.1483G>C (p.Val495Leu) | dbSNP |
| X | g.67711569G= | CA2435130491 | AR | c.*401G= (n.*401G=) c.2053G= (p.Val685=) c.680G= (n.680G=) c.457G= (p.Val153=) c.1483G= (p.Val495=) | |
| X | g.67711569G>T | CA413423309 | AR | c.*401G>T (n.*401G>T) c.2053G>T (p.Val685Leu) c.680G>T (n.680G>T) c.457G>T (p.Val153Leu) c.1483G>T (p.Val495Leu) | |
| X | g.67711570T>A | CA413423310 | AR | c.*402T>A (n.*402T>A) c.2054T>A (p.Val685Glu) c.681T>A (n.681T>A) c.458T>A (p.Val153Glu) c.1484T>A (p.Val495Glu) | dbSNP |
| X | g.67711570T>C | CA413423311 | AR | c.*402T>C (n.*402T>C) c.2054T>C (p.Val685Ala) c.681T>C (n.681T>C) c.458T>C (p.Val153Ala) c.1484T>C (p.Val495Ala) | dbSNP COSMIC COSMIC |
| X | g.67711570T>G | CA413423312 | AR | c.*402T>G (n.*402T>G) c.2054T>G (p.Val685Gly) c.681T>G (n.681T>G) c.458T>G (p.Val153Gly) c.1484T>G (p.Val495Gly) | |
| X | g.67711571A>C | CA517048384 | AR | c.*403A>C (n.*403A>C) c.2055A>C (p.Val685=) c.682A>C (n.682A>C) c.459A>C (p.Val153=) c.1485A>C (p.Val495=) | |
| X | g.67711571A>G | CA517048383 | AR | c.*403A>G (n.*403A>G) c.2055A>G (p.Val685=) c.682A>G (n.682A>G) c.459A>G (p.Val153=) c.1485A>G (p.Val495=) | gnomAD v4 |
| X | g.67711571A>T | CA517048382 | AR | c.*403A>T (n.*403A>T) c.2055A>T (p.Val685=) c.682A>T (n.682A>T) c.459A>T (p.Val153=) c.1485A>T (p.Val495=) | |
| X | g.67711571_67711572dup | CA2695234360 | AR | c.*403_*404dup (n.*403_*404dup) c.2055_2056dup (p.Val686GlufsTer?) c.682_683dup (n.682_683dup) c.459_460dup (p.Val154GlufsTer?) c.1485_1486dup (p.Val496GlufsTer?) | |
| X | g.67711572G>A | CA413423314 | AR | c.*404G>A (n.*404G>A) c.2056G>A (p.Val686Met) c.683G>A (n.683G>A) c.460G>A (p.Val154Met) c.1486G>A (p.Val496Met) | dbSNP |
| X | g.67711572G>C | CA413423315 | AR | c.*404G>C (n.*404G>C) c.2056G>C (p.Val686Leu) c.683G>C (n.683G>C) c.460G>C (p.Val154Leu) c.1486G>C (p.Val496Leu) | ClinVar dbSNP |
| X | g.67711572G>T | CA413423313 | AR | c.*404G>T (n.*404G>T) c.2056G>T (p.Val686Leu) c.683G>T (n.683G>T) c.460G>T (p.Val154Leu) c.1486G>T (p.Val496Leu) | |
| X | g.67711573T>A | CA413423316 | AR | c.*405T>A (n.*405T>A) c.2057T>A (p.Val686Glu) c.684T>A (n.684T>A) c.461T>A (p.Val154Glu) c.1487T>A (p.Val496Glu) | dbSNP |
| X | g.67711573T>C | CA413423317 | AR | c.*405T>C (n.*405T>C) c.2057T>C (p.Val686Ala) c.684T>C (n.684T>C) c.461T>C (p.Val154Ala) c.1487T>C (p.Val496Ala) | |
| X | g.67711573T>G | CA413423318 | AR | c.*405T>G (n.*405T>G) c.2057T>G (p.Val686Gly) c.684T>G (n.684T>G) c.461T>G (p.Val154Gly) c.1487T>G (p.Val496Gly) | dbSNP |
| X | g.67711573_67711580dup | CA2695234361 | AR | c.*405_*412dup (n.*405_*412dup) c.2057_2064dup (p.Gly689CysfsTer?) c.684_691dup (n.684_691dup) c.461_468dup (p.Gly157CysfsTer?) c.1487_1494dup (p.Gly499CysfsTer?) | |
| X | g.67711574G>A | CA517048385 | AR | c.*406G>A (n.*406G>A) c.2058G>A (p.Val686=) c.685G>A (n.685G>A) c.462G>A (p.Val154=) c.1488G>A (p.Val496=) | dbSNP |
| X | g.67711574G>C | CA517048387 | AR | c.*406G>C (n.*406G>C) c.2058G>C (p.Val686=) c.685G>C (n.685G>C) c.462G>C (p.Val154=) c.1488G>C (p.Val496=) | dbSNP |
| X | g.67711574G>T | CA517048389 | AR | c.*406G>T (n.*406G>T) c.2058G>T (p.Val686=) c.685G>T (n.685G>T) c.462G>T (p.Val154=) c.1488G>T (p.Val496=) | gnomAD v4 |
| X | g.67711575T>A | CA413423319 | AR | c.*407T>A (n.*407T>A) c.2059T>A (p.Cys687Ser) c.686T>A (n.686T>A) c.463T>A (p.Cys155Ser) c.1489T>A (p.Cys497Ser) | dbSNP |
| X | g.67711575T>C | CA413423320 | AR | c.*407T>C (n.*407T>C) c.2059T>C (p.Cys687Arg) c.686T>C (n.686T>C) c.463T>C (p.Cys155Arg) c.1489T>C (p.Cys497Arg) | ClinVar |
| X | g.67711575T>G | CA413423321 | AR | c.*407T>G (n.*407T>G) c.2059T>G (p.Cys687Gly) c.686T>G (n.686T>G) c.463T>G (p.Cys155Gly) c.1489T>G (p.Cys497Gly) | dbSNP |
| X | g.67711576G>A | CA413423324 | AR | c.*408G>A (n.*408G>A) c.2060G>A (p.Cys687Tyr) c.687G>A (n.687G>A) c.464G>A (p.Cys155Tyr) c.1490G>A (p.Cys497Tyr) | dbSNP |
| X | g.67711576G>C | CA413423322 | AR | c.*408G>C (n.*408G>C) c.2060G>C (p.Cys687Ser) c.687G>C (n.687G>C) c.464G>C (p.Cys155Ser) c.1490G>C (p.Cys497Ser) | dbSNP |
| X | g.67711576G>T | CA413423323 | AR | c.*408G>T (n.*408G>T) c.2060G>T (p.Cys687Phe) c.687G>T (n.687G>T) c.464G>T (p.Cys155Phe) c.1490G>T (p.Cys497Phe) | |
| X | g.67711577T>A | CA413423325 | AR | c.*409T>A (n.*409T>A) c.2061T>A (p.Cys687Ter) c.688T>A (n.688T>A) c.465T>A (p.Cys155Ter) c.1491T>A (p.Cys497Ter) | dbSNP |
| X | g.67711577T>C | CA517048395 | AR | c.*409T>C (n.*409T>C) c.2061T>C (p.Cys687=) c.688T>C (n.688T>C) c.465T>C (p.Cys155=) c.1491T>C (p.Cys497=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711577T>G | CA413423326 | AR | c.*409T>G (n.*409T>G) c.2061T>G (p.Cys687Trp) c.688T>G (n.688T>G) c.465T>G (p.Cys155Trp) c.1491T>G (p.Cys497Trp) | dbSNP |
| X | g.67711577T= | CA2435130492 | AR | c.*409T= (n.*409T=) c.2061T= (p.Cys687=) c.688T= (n.688T=) c.465T= (p.Cys155=) c.1491T= (p.Cys497=) | |
| X | g.67711578G>A | CA413423327 | AR | c.*410G>A (n.*410G>A) c.2062G>A (p.Ala688Thr) c.689G>A (n.689G>A) c.466G>A (p.Ala156Thr) c.1492G>A (p.Ala498Thr) | dbSNP |
| X | g.67711578G>C | CA413423328 | AR | c.*410G>C (n.*410G>C) c.2062G>C (p.Ala688Pro) c.689G>C (n.689G>C) c.466G>C (p.Ala156Pro) c.1492G>C (p.Ala498Pro) | dbSNP |
| X | g.67711578G>T | CA413423329 | AR | c.*410G>T (n.*410G>T) c.2062G>T (p.Ala688Ser) c.689G>T (n.689G>T) c.466G>T (p.Ala156Ser) c.1492G>T (p.Ala498Ser) | dbSNP gnomAD v4 |
| X | g.67711579C>A | CA413423330 | AR | c.*411C>A (n.*411C>A) c.2063C>A (p.Ala688Asp) c.690C>A (n.690C>A) c.467C>A (p.Ala156Asp) c.1493C>A (p.Ala498Asp) | dbSNP |
| X | g.67711579C>G | CA413423332 | AR | c.*411C>G (n.*411C>G) c.2063C>G (p.Ala688Gly) c.690C>G (n.690C>G) c.467C>G (p.Ala156Gly) c.1493C>G (p.Ala498Gly) | dbSNP |
| X | g.67711579C>T | CA413423331 | AR | c.*411C>T (n.*411C>T) c.2063C>T (p.Ala688Val) c.690C>T (n.690C>T) c.467C>T (p.Ala156Val) c.1493C>T (p.Ala498Val) | dbSNP |
| X | g.67711580T>A | CA517048403 | AR | c.*412T>A (n.*412T>A) c.2064T>A (p.Ala688=) c.691T>A (n.691T>A) c.468T>A (p.Ala156=) c.1494T>A (p.Ala498=) | |
| X | g.67711580T>C | CA517048404 | AR | c.*412T>C (n.*412T>C) c.2064T>C (p.Ala688=) c.691T>C (n.691T>C) c.468T>C (p.Ala156=) c.1494T>C (p.Ala498=) | |
| X | g.67711580T>G | CA517048405 | AR | c.*412T>G (n.*412T>G) c.2064T>G (p.Ala688=) c.691T>G (n.691T>G) c.468T>G (p.Ala156=) c.1494T>G (p.Ala498=) | |
| X | g.67711581G>A | CA413423333 | AR | c.*413G>A (n.*413G>A) c.2065G>A (p.Gly689Arg) c.692G>A (n.692G>A) c.469G>A (p.Gly157Arg) c.1495G>A (p.Gly499Arg) | dbSNP |
| X | g.67711581G>C | CA413423334 | AR | c.*413G>C (n.*413G>C) c.2065G>C (p.Gly689Arg) c.692G>C (n.692G>C) c.469G>C (p.Gly157Arg) c.1495G>C (p.Gly499Arg) | dbSNP |
| X | g.67711581G>T | CA413423335 | AR | c.*413G>T (n.*413G>T) c.2065G>T (p.Gly689Ter) c.692G>T (n.692G>T) c.469G>T (p.Gly157Ter) c.1495G>T (p.Gly499Ter) | |
| X | g.67711582G>A | CA413423336 | AR | c.*414G>A (n.*414G>A) c.2066G>A (p.Gly689Glu) c.693G>A (n.693G>A) c.470G>A (p.Gly157Glu) c.1496G>A (p.Gly499Glu) | dbSNP |
| X | g.67711582G>C | CA413423337 | AR | c.*414G>C (n.*414G>C) c.2066G>C (p.Gly689Ala) c.693G>C (n.693G>C) c.470G>C (p.Gly157Ala) c.1496G>C (p.Gly499Ala) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.67711582G>T | CA413423338 | AR | c.*414G>T (n.*414G>T) c.2066G>T (p.Gly689Val) c.693G>T (n.693G>T) c.470G>T (p.Gly157Val) c.1496G>T (p.Gly499Val) | dbSNP |
| X | g.67711583A>C | CA517048407 | AR | c.*415A>C (n.*415A>C) c.2067A>C (p.Gly689=) c.694A>C (n.694A>C) c.471A>C (p.Gly157=) c.1497A>C (p.Gly499=) | dbSNP |
| X | g.67711583A>G | CA517048409 | AR | c.*415A>G (n.*415A>G) c.2067A>G (p.Gly689=) c.694A>G (n.694A>G) c.471A>G (p.Gly157=) c.1497A>G (p.Gly499=) | dbSNP |
| X | g.67711583A>T | CA517048411 | AR | c.*415A>T (n.*415A>T) c.2067A>T (p.Gly689=) c.694A>T (n.694A>T) c.471A>T (p.Gly157=) c.1497A>T (p.Gly499=) | dbSNP |
| X | g.67711584C>A | CA413423339 | AR | c.*416C>A (n.*416C>A) c.2068C>A (p.His690Asn) c.695C>A (n.695C>A) c.472C>A (p.His158Asn) c.1498C>A (p.His500Asn) | ClinVar dbSNP |
| X | g.67711584C= | CA2435130493 | AR | c.*416C= (n.*416C=) c.2068C= (p.His690=) c.695C= (n.695C=) c.472C= (p.His158=) c.1498C= (p.His500=) | |
| X | g.67711584C>G | CA413423340 | AR | c.*416C>G (n.*416C>G) c.2068C>G (p.His690Asp) c.695C>G (n.695C>G) c.472C>G (p.His158Asp) c.1498C>G (p.His500Asp) | dbSNP |
| X | g.67711584C>T | CA413423341 | AR | c.*416C>T (n.*416C>T) c.2068C>T (p.His690Tyr) c.695C>T (n.695C>T) c.472C>T (p.His158Tyr) c.1498C>T (p.His500Tyr) | dbSNP |
| X | g.67711585A= | CA2435130494 | AR | c.*417A= (n.*417A=) c.2069A= (p.His690=) c.696A= (n.696A=) c.473A= (p.His158=) c.1499A= (p.His500=) | |
| X | g.67711585A>C | CA120783 | AR | c.*417A>C (n.*417A>C) c.2069A>C (p.His690Pro) c.696A>C (n.696A>C) c.473A>C (p.His158Pro) c.1499A>C (p.His500Pro) | ClinVar dbSNP |
| X | g.67711585A>G | CA413423342 | AR | c.*417A>G (n.*417A>G) c.2069A>G (p.His690Arg) c.696A>G (n.696A>G) c.473A>G (p.His158Arg) c.1499A>G (p.His500Arg) | dbSNP |
| X | g.67711585A>T | CA413423343 | AR | c.*417A>T (n.*417A>T) c.2069A>T (p.His690Leu) c.696A>T (n.696A>T) c.473A>T (p.His158Leu) c.1499A>T (p.His500Leu) | dbSNP |
| X | g.67711587_67711589del | CA2695234362 | AR | c.*419_*421del (n.*419_*421del) c.2071_2073del (p.Asp691del) c.698_700del (n.698_700del) c.475_477del (p.Asp159del) c.1501_1503del (p.Asp501del) | |
| X | g.67711586C>A | CA413423344 | AR | c.*418C>A (n.*418C>A) c.2070C>A (p.His690Gln) c.697C>A (n.697C>A) c.474C>A (p.His158Gln) c.1500C>A (p.His500Gln) | |
| X | g.67711586C= | CA2435130495 | AR | c.*418C= (n.*418C=) c.2070C= (p.His690=) c.697C= (n.697C=) c.474C= (p.His158=) c.1500C= (p.His500=) | |
| X | g.67711586C>G | CA413423345 | AR | c.*418C>G (n.*418C>G) c.2070C>G (p.His690Gln) c.697C>G (n.697C>G) c.474C>G (p.His158Gln) c.1500C>G (p.His500Gln) | ClinVar dbSNP |
| X | g.67711586C>T | CA10436571 | AR | c.*418C>T (n.*418C>T) c.2070C>T (p.His690=) c.697C>T (n.697C>T) c.474C>T (p.His158=) c.1500C>T (p.His500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.67711587G>A | CA330771346 | AR | c.*419G>A (n.*419G>A) c.2071G>A (p.Asp691Asn) c.698G>A (n.698G>A) c.475G>A (p.Asp159Asn) c.1501G>A (p.Asp501Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711587G>C | CA413423347 | AR | c.*419G>C (n.*419G>C) c.2071G>C (p.Asp691His) c.698G>C (n.698G>C) c.475G>C (p.Asp159His) c.1501G>C (p.Asp501His) | dbSNP |
| X | g.67711587G= | CA2435130496 | AR | c.*419G= (n.*419G=) c.2071G= (p.Asp691=) c.698G= (n.698G=) c.475G= (p.Asp159=) c.1501G= (p.Asp501=) | |
| X | g.67711587G>T | CA413423346 | AR | c.*419G>T (n.*419G>T) c.2071G>T (p.Asp691Tyr) c.698G>T (n.698G>T) c.475G>T (p.Asp159Tyr) c.1501G>T (p.Asp501Tyr) | dbSNP |
| X | g.67711588A= | CA2435130497 | AR | c.*420A= (n.*420A=) c.2072A= (p.Asp691=) c.699A= (n.699A=) c.476A= (p.Asp159=) c.1502A= (p.Asp501=) | |
| X | g.67711588A>C | CA413423348 | AR | c.*420A>C (n.*420A>C) c.2072A>C (p.Asp691Ala) c.699A>C (n.699A>C) c.476A>C (p.Asp159Ala) c.1502A>C (p.Asp501Ala) | dbSNP |
| X | g.67711588A>G | CA413423349 | AR | c.*420A>G (n.*420A>G) c.2072A>G (p.Asp691Gly) c.699A>G (n.699A>G) c.476A>G (p.Asp159Gly) c.1502A>G (p.Asp501Gly) | ClinVar dbSNP |
| X | g.67711588A>T | CA413423350 | AR | c.*420A>T (n.*420A>T) c.2072A>T (p.Asp691Val) c.699A>T (n.699A>T) c.476A>T (p.Asp159Val) c.1502A>T (p.Asp501Val) | dbSNP COSMIC COSMIC |
| X | g.67711593_67711595del | CA2695234363 | AR | c.*425_*427del (n.*425_*427del) c.2077_2079del (p.Asn693del) c.704_706del (n.704_706del) c.481_483del (p.Asn161del) c.1507_1509del (p.Asn503del) | |
| X | g.67711589C>A | CA413423351 | AR | c.*421C>A (n.*421C>A) c.2073C>A (p.Asp691Glu) c.700C>A (n.700C>A) c.477C>A (p.Asp159Glu) c.1503C>A (p.Asp501Glu) | |
| X | g.67711589C= | CA2435130498 | AR | c.*421C= (n.*421C=) c.2073C= (p.Asp691=) c.700C= (n.700C=) c.477C= (p.Asp159=) c.1503C= (p.Asp501=) | |
| X | g.67711589C>G | CA413423352 | AR | c.*421C>G (n.*421C>G) c.2073C>G (p.Asp691Glu) c.700C>G (n.700C>G) c.477C>G (p.Asp159Glu) c.1503C>G (p.Asp501Glu) | dbSNP |
| X | g.67711589C>T | CA10436572 | AR | c.*421C>T (n.*421C>T) c.2073C>T (p.Asp691=) c.700C>T (n.700C>T) c.477C>T (p.Asp159=) c.1503C>T (p.Asp501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711590A>C | CA413423353 | AR | c.*422A>C (n.*422A>C) c.2074A>C (p.Asn692His) c.701A>C (n.701A>C) c.478A>C (p.Asn160His) c.1504A>C (p.Asn502His) | |
| X | g.67711590A>G | CA413423354 | AR | c.*422A>G (n.*422A>G) c.2074A>G (p.Asn692Asp) c.701A>G (n.701A>G) c.478A>G (p.Asn160Asp) c.1504A>G (p.Asn502Asp) | |
| X | g.67711590A>T | CA413423355 | AR | c.*422A>T (n.*422A>T) c.2074A>T (p.Asn692Tyr) c.701A>T (n.701A>T) c.478A>T (p.Asn160Tyr) c.1504A>T (p.Asn502Tyr) | dbSNP |
| X | g.67711591A>C | CA413423356 | AR | c.*423A>C (n.*423A>C) c.2075A>C (p.Asn692Thr) c.702A>C (n.702A>C) c.479A>C (p.Asn160Thr) c.1505A>C (p.Asn502Thr) | dbSNP |
| X | g.67711591A>G | CA413423357 | AR | c.*423A>G (n.*423A>G) c.2075A>G (p.Asn692Ser) c.702A>G (n.702A>G) c.479A>G (p.Asn160Ser) c.1505A>G (p.Asn502Ser) | dbSNP |
| X | g.67711591A>T | CA413423358 | AR | c.*423A>T (n.*423A>T) c.2075A>T (p.Asn692Ile) c.702A>T (n.702A>T) c.479A>T (p.Asn160Ile) c.1505A>T (p.Asn502Ile) | dbSNP |
| X | g.67711592C>A | CA413423359 | AR | c.*424C>A (n.*424C>A) c.2076C>A (p.Asn692Lys) c.703C>A (n.703C>A) c.480C>A (p.Asn160Lys) c.1506C>A (p.Asn502Lys) | ClinVar dbSNP |
| X | g.67711592C>G | CA413423360 | AR | c.*424C>G (n.*424C>G) c.2076C>G (p.Asn692Lys) c.703C>G (n.703C>G) c.480C>G (p.Asn160Lys) c.1506C>G (p.Asn502Lys) | dbSNP |
| X | g.67711592C>T | CA517048428 | AR | c.*424C>T (n.*424C>T) c.2076C>T (p.Asn692=) c.703C>T (n.703C>T) c.480C>T (p.Asn160=) c.1506C>T (p.Asn502=) | |
| X | g.67711593A>C | CA413423363 | AR | c.*425A>C (n.*425A>C) c.2077A>C (p.Asn693His) c.704A>C (n.704A>C) c.481A>C (p.Asn161His) c.1507A>C (p.Asn503His) | dbSNP |
| X | g.67711593A>G | CA413423362 | AR | c.*425A>G (n.*425A>G) c.2077A>G (p.Asn693Asp) c.704A>G (n.704A>G) c.481A>G (p.Asn161Asp) c.1507A>G (p.Asn503Asp) | dbSNP |
| X | g.67711593A>T | CA413423361 | AR | c.*425A>T (n.*425A>T) c.2077A>T (p.Asn693Tyr) c.704A>T (n.704A>T) c.481A>T (p.Asn161Tyr) c.1507A>T (p.Asn503Tyr) | |
| X | g.67711593_67711594insCCAA | CA2821614872 | AR | c.*425_*426insCCAA (n.*425_*426insCCAA) c.2077_2078insCCAA (p.Asn693ThrfsTer13) c.704_705insCCAA (n.704_705insCCAA) c.481_482insCCAA (p.Asn161ThrfsTer13) c.1507_1508insCCAA (p.Asn503ThrfsTer13) | |
| X | g.67711594A>C | CA413423364 | AR | c.*426A>C (n.*426A>C) c.2078A>C (p.Asn693Thr) c.705A>C (n.705A>C) c.482A>C (p.Asn161Thr) c.1508A>C (p.Asn503Thr) | |
| X | g.67711594A>G | CA413423365 | AR | c.*426A>G (n.*426A>G) c.2078A>G (p.Asn693Ser) c.705A>G (n.705A>G) c.482A>G (p.Asn161Ser) c.1508A>G (p.Asn503Ser) | gnomAD v4 |
| X | g.67711594A>T | CA413423366 | AR | c.*426A>T (n.*426A>T) c.2078A>T (p.Asn693Ile) c.705A>T (n.705A>T) c.482A>T (p.Asn161Ile) c.1508A>T (p.Asn503Ile) | ClinVar dbSNP |
| X | g.67711595C>A | CA413423367 | AR | c.*427C>A (n.*427C>A) c.2079C>A (p.Asn693Lys) c.706C>A (n.706C>A) c.483C>A (p.Asn161Lys) c.1509C>A (p.Asn503Lys) | dbSNP gnomAD v4 |
| X | g.67711595C>G | CA413423368 | AR | c.*427C>G (n.*427C>G) c.2079C>G (p.Asn693Lys) c.706C>G (n.706C>G) c.483C>G (p.Asn161Lys) c.1509C>G (p.Asn503Lys) | ClinVar dbSNP |
| X | g.67711595C>T | CA517048433 | AR | c.*427C>T (n.*427C>T) c.2079C>T (p.Asn693=) c.706C>T (n.706C>T) c.483C>T (p.Asn161=) c.1509C>T (p.Asn503=) | dbSNP gnomAD v4 |
| X | g.67711596del | CA2596116040 | AR | c.*428del (n.*428del) c.2080del (p.Gln694SerfsTer?) c.707del (n.707del) c.484del (p.Gln162SerfsTer?) c.1510del (p.Gln504SerfsTer?) | gnomAD v3 gnomAD v4 |
| X | g.67711595_67711596insACACCCAACA | CA2821614873 | AR | c.*427_*428insACACCCAACA (n.*427_*428insACACCCAACA) c.2079_2080insACACCCAACA (p.Gln694ThrfsTer14) c.706_707insACACCCAACA (n.706_707insACACCCAACA) c.483_484insACACCCAACA (p.Gln162ThrfsTer14) c.1509_1510insACACCCAACA (p.Gln504ThrfsTer14) | |
| X | g.67711596C>A | CA413423369 | AR | c.*428C>A (n.*428C>A) c.2080C>A (p.Gln694Lys) c.707C>A (n.707C>A) c.484C>A (p.Gln162Lys) c.1510C>A (p.Gln504Lys) | dbSNP |
| X | g.67711596C>G | CA413423370 | AR | c.*428C>G (n.*428C>G) c.2080C>G (p.Gln694Glu) c.707C>G (n.707C>G) c.484C>G (p.Gln162Glu) c.1510C>G (p.Gln504Glu) | dbSNP |
| X | g.67711596C>T | CA413423371 | AR | c.*428C>T (n.*428C>T) c.2080C>T (p.Gln694Ter) c.707C>T (n.707C>T) c.484C>T (p.Gln162Ter) c.1510C>T (p.Gln504Ter) | |
| X | g.67711597A>C | CA413423372 | AR | c.*429A>C (n.*429A>C) c.2081A>C (p.Gln694Pro) c.708A>C (n.708A>C) c.485A>C (p.Gln162Pro) c.1511A>C (p.Gln504Pro) | |
| X | g.67711597A>G | CA413423373 | AR | c.*429A>G (n.*429A>G) c.2081A>G (p.Gln694Arg) c.708A>G (n.708A>G) c.485A>G (p.Gln162Arg) c.1511A>G (p.Gln504Arg) | |
| X | g.67711597A>T | CA413423374 | AR | c.*429A>T (n.*429A>T) c.2081A>T (p.Gln694Leu) c.708A>T (n.708A>T) c.485A>T (p.Gln162Leu) c.1511A>T (p.Gln504Leu) | dbSNP |
| X | g.67711598G>A | CA10436573 | AR | c.*430G>A (n.*430G>A) c.2082G>A (p.Gln694=) c.709G>A (n.709G>A) c.486G>A (p.Gln162=) c.1512G>A (p.Gln504=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711598G>C | CA330771347 | AR | c.*430G>C (n.*430G>C) c.2082G>C (p.Gln694His) c.709G>C (n.709G>C) c.486G>C (p.Gln162His) c.1512G>C (p.Gln504His) | dbSNP |
| X | g.67711598G= | CA2435130499 | AR | c.*430G= (n.*430G=) c.2082G= (p.Gln694=) c.709G= (n.709G=) c.486G= (p.Gln162=) c.1512G= (p.Gln504=) | |
| X | g.67711598G>T | CA413423375 | AR | c.*430G>T (n.*430G>T) c.2082G>T (p.Gln694His) c.709G>T (n.709G>T) c.486G>T (p.Gln162His) c.1512G>T (p.Gln504His) | |
| X | g.67711599C>A | CA413423377 | AR | c.*431C>A (n.*431C>A) c.2083C>A (p.Pro695Thr) c.710C>A (n.710C>A) c.487C>A (p.Pro163Thr) c.1513C>A (p.Pro505Thr) | dbSNP |
| X | g.67711599C= | CA2435130500 | AR | c.*431C= (n.*431C=) c.2083C= (p.Pro695=) c.710C= (n.710C=) c.487C= (p.Pro163=) c.1513C= (p.Pro505=) | |
| X | g.67711599C>G | CA413423376 | AR | c.*431C>G (n.*431C>G) c.2083C>G (p.Pro695Ala) c.710C>G (n.710C>G) c.487C>G (p.Pro163Ala) c.1513C>G (p.Pro505Ala) | dbSNP |
| X | g.67711599C>T | CA10436574 | AR | c.*431C>T (n.*431C>T) c.2083C>T (p.Pro695Ser) c.710C>T (n.710C>T) c.487C>T (p.Pro163Ser) c.1513C>T (p.Pro505Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711600C>A | CA413423378 | AR | c.*432C>A (n.*432C>A) c.2084C>A (p.Pro695His) c.711C>A (n.711C>A) c.488C>A (p.Pro163His) c.1514C>A (p.Pro505His) | dbSNP |
| X | g.67711600C>G | CA413423379 | AR | c.*432C>G (n.*432C>G) c.2084C>G (p.Pro695Arg) c.711C>G (n.711C>G) c.488C>G (p.Pro163Arg) c.1514C>G (p.Pro505Arg) | dbSNP |
| X | g.67711600C>T | CA413423380 | AR | c.*432C>T (n.*432C>T) c.2084C>T (p.Pro695Leu) c.711C>T (n.711C>T) c.488C>T (p.Pro163Leu) c.1514C>T (p.Pro505Leu) | dbSNP |
| X | g.67711601C>A | CA517048455 | AR | c.*433C>A (n.*433C>A) c.2085C>A (p.Pro695=) c.712C>A (n.712C>A) c.489C>A (p.Pro163=) c.1515C>A (p.Pro505=) | dbSNP |
| X | g.67711601C= | CA2435130501 | AR | c.*433C= (n.*433C=) c.2085C= (p.Pro695=) c.712C= (n.712C=) c.489C= (p.Pro163=) c.1515C= (p.Pro505=) | |
| X | g.67711601C>G | CA517048452 | AR | c.*433C>G (n.*433C>G) c.2085C>G (p.Pro695=) c.712C>G (n.712C>G) c.489C>G (p.Pro163=) c.1515C>G (p.Pro505=) | dbSNP |
| X | g.67711601C>T | CA10436575 | AR | c.*433C>T (n.*433C>T) c.2085C>T (p.Pro695=) c.712C>T (n.712C>T) c.489C>T (p.Pro163=) c.1515C>T (p.Pro505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711602G>A | CA413423381 | AR | c.*434G>A (n.*434G>A) c.2086G>A (p.Asp696Asn) c.713G>A (n.713G>A) c.490G>A (p.Asp164Asn) c.1516G>A (p.Asp506Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67711602G>C | CA413423382 | AR | c.*434G>C (n.*434G>C) c.2086G>C (p.Asp696His) c.713G>C (n.713G>C) c.490G>C (p.Asp164His) c.1516G>C (p.Asp506His) | dbSNP |
| X | g.67711602G= | CA2435130502 | AR | c.*434G= (n.*434G=) c.2086G= (p.Asp696=) c.713G= (n.713G=) c.490G= (p.Asp164=) c.1516G= (p.Asp506=) | |
| X | g.67711602G>T | CA413423383 | AR | c.*434G>T (n.*434G>T) c.2086G>T (p.Asp696Tyr) c.713G>T (n.713G>T) c.490G>T (p.Asp164Tyr) c.1516G>T (p.Asp506Tyr) | dbSNP |
| X | g.67711603A>C | CA413423386 | AR | c.*435A>C (n.*435A>C) c.2087A>C (p.Asp696Ala) c.714A>C (n.714A>C) c.491A>C (p.Asp164Ala) c.1517A>C (p.Asp506Ala) | dbSNP |
| X | g.67711603A>G | CA413423384 | AR | c.*435A>G (n.*435A>G) c.2087A>G (p.Asp696Gly) c.714A>G (n.714A>G) c.491A>G (p.Asp164Gly) c.1517A>G (p.Asp506Gly) | dbSNP |
| X | g.67711603A>T | CA413423385 | AR | c.*435A>T (n.*435A>T) c.2087A>T (p.Asp696Val) c.714A>T (n.714A>T) c.491A>T (p.Asp164Val) c.1517A>T (p.Asp506Val) | ClinVar dbSNP |
| X | g.67711604C>A | CA413423387 | AR | c.*436C>A (n.*436C>A) c.2088C>A (p.Asp696Glu) c.715C>A (n.715C>A) c.492C>A (p.Asp164Glu) c.1518C>A (p.Asp506Glu) | |
| X | g.67711604C= | CA2435130503 | AR | c.*436C= (n.*436C=) c.2088C= (p.Asp696=) c.715C= (n.715C=) c.492C= (p.Asp164=) c.1518C= (p.Asp506=) | |
| X | g.67711604C>G | CA413423388 | AR | c.*436C>G (n.*436C>G) c.2088C>G (p.Asp696Glu) c.715C>G (n.715C>G) c.492C>G (p.Asp164Glu) c.1518C>G (p.Asp506Glu) | |
| X | g.67711604C>T | CA517048466 | AR | c.*436C>T (n.*436C>T) c.2088C>T (p.Asp696=) c.715C>T (n.715C>T) c.492C>T (p.Asp164=) c.1518C>T (p.Asp506=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711605T>A | CA413423389 | AR | c.*437T>A (n.*437T>A) c.2089T>A (p.Ser697Thr) c.716T>A (n.716T>A) c.493T>A (p.Ser165Thr) c.1519T>A (p.Ser507Thr) | COSMIC COSMIC COSMIC |
| X | g.67711605T>C | CA413423390 | AR | c.*437T>C (n.*437T>C) c.2089T>C (p.Ser697Pro) c.716T>C (n.716T>C) c.493T>C (p.Ser165Pro) c.1519T>C (p.Ser507Pro) | |
| X | g.67711605T>G | CA413423391 | AR | c.*437T>G (n.*437T>G) c.2089T>G (p.Ser697Ala) c.716T>G (n.716T>G) c.493T>G (p.Ser165Ala) c.1519T>G (p.Ser507Ala) | |
| X | g.67711606C>A | CA413423392 | AR | c.*438C>A (n.*438C>A) c.2090C>A (p.Ser697Tyr) c.717C>A (n.717C>A) c.494C>A (p.Ser165Tyr) c.1520C>A (p.Ser507Tyr) | ClinVar dbSNP |
| X | g.67711606C= | CA2435130504 | AR | c.*438C= (n.*438C=) c.2090C= (p.Ser697=) c.717C= (n.717C=) c.494C= (p.Ser165=) c.1520C= (p.Ser507=) | |
| X | g.67711606C>G | CA413423394 | AR | c.*438C>G (n.*438C>G) c.2090C>G (p.Ser697Cys) c.717C>G (n.717C>G) c.494C>G (p.Ser165Cys) c.1520C>G (p.Ser507Cys) | dbSNP |
| X | g.67711606C>T | CA413423393 | AR | c.*438C>T (n.*438C>T) c.2090C>T (p.Ser697Phe) c.717C>T (n.717C>T) c.494C>T (p.Ser165Phe) c.1520C>T (p.Ser507Phe) | dbSNP |
| X | g.67711607C>A | CA517048475 | AR | c.*439C>A (n.*439C>A) c.2091C>A (p.Ser697=) c.718C>A (n.718C>A) c.495C>A (p.Ser165=) c.1521C>A (p.Ser507=) | |
| X | g.67711607C>G | CA517048476 | AR | c.*439C>G (n.*439C>G) c.2091C>G (p.Ser697=) c.718C>G (n.718C>G) c.495C>G (p.Ser165=) c.1521C>G (p.Ser507=) | |
| X | g.67711607C>T | CA517048477 | AR | c.*439C>T (n.*439C>T) c.2091C>T (p.Ser697=) c.718C>T (n.718C>T) c.495C>T (p.Ser165=) c.1521C>T (p.Ser507=) | gnomAD v4 COSMIC COSMIC |
| X | g.67711608T>A | CA413423395 | AR | c.*440T>A (n.*440T>A) c.2092T>A (p.Phe698Ile) c.719T>A (n.719T>A) c.496T>A (p.Phe166Ile) c.1522T>A (p.Phe508Ile) | dbSNP |
| X | g.67711608T>C | CA413423396 | AR | c.*440T>C (n.*440T>C) c.2092T>C (p.Phe698Leu) c.719T>C (n.719T>C) c.496T>C (p.Phe166Leu) c.1522T>C (p.Phe508Leu) | |
| X | g.67711608T>G | CA413423397 | AR | c.*440T>G (n.*440T>G) c.2092T>G (p.Phe698Val) c.719T>G (n.719T>G) c.496T>G (p.Phe166Val) c.1522T>G (p.Phe508Val) | |
| X | g.67711609T>A | CA413423398 | AR | c.*441T>A (n.*441T>A) c.2093T>A (p.Phe698Tyr) c.720T>A (n.720T>A) c.497T>A (p.Phe166Tyr) c.1523T>A (p.Phe508Tyr) | |
| X | g.67711609T>C | CA413423399 | AR | c.*441T>C (n.*441T>C) c.2093T>C (p.Phe698Ser) c.720T>C (n.720T>C) c.497T>C (p.Phe166Ser) c.1523T>C (p.Phe508Ser) | |
| X | g.67711609T>G | CA413423400 | AR | c.*441T>G (n.*441T>G) c.2093T>G (p.Phe698Cys) c.720T>G (n.720T>G) c.497T>G (p.Phe166Cys) c.1523T>G (p.Phe508Cys) | |
| X | g.67711610T>A | CA413423401 | AR | c.*442T>A (n.*442T>A) c.2094T>A (p.Phe698Leu) c.721T>A (n.721T>A) c.498T>A (p.Phe166Leu) c.1524T>A (p.Phe508Leu) | |
| X | g.67711610T>C | CA517048482 | AR | c.*442T>C (n.*442T>C) c.2094T>C (p.Phe698=) c.721T>C (n.721T>C) c.498T>C (p.Phe166=) c.1524T>C (p.Phe508=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711610T>G | CA413423402 | AR | c.*442T>G (n.*442T>G) c.2094T>G (p.Phe698Leu) c.721T>G (n.721T>G) c.498T>G (p.Phe166Leu) c.1524T>G (p.Phe508Leu) | |
| X | g.67711610T= | CA2435130505 | AR | c.*442T= (n.*442T=) c.2094T= (p.Phe698=) c.721T= (n.721T=) c.498T= (p.Phe166=) c.1524T= (p.Phe508=) | |
| X | g.67711611G>A | CA413423403 | AR | c.*443G>A (n.*443G>A) c.2095G>A (p.Ala699Thr) c.722G>A (n.722G>A) c.499G>A (p.Ala167Thr) c.1525G>A (p.Ala509Thr) | dbSNP gnomAD v4 |
| X | g.67711611G>C | CA413423404 | AR | c.*443G>C (n.*443G>C) c.2095G>C (p.Ala699Pro) c.722G>C (n.722G>C) c.499G>C (p.Ala167Pro) c.1525G>C (p.Ala509Pro) | gnomAD v4 |
| X | g.67711611G>T | CA413423405 | AR | c.*443G>T (n.*443G>T) c.2095G>T (p.Ala699Ser) c.722G>T (n.722G>T) c.499G>T (p.Ala167Ser) c.1525G>T (p.Ala509Ser) | |
| X | g.67711612C>A | CA413423406 | AR | c.*444C>A (n.*444C>A) c.2096C>A (p.Ala699Glu) c.723C>A (n.723C>A) c.500C>A (p.Ala167Glu) c.1526C>A (p.Ala509Glu) | dbSNP |
| X | g.67711612C>G | CA413423408 | AR | c.*444C>G (n.*444C>G) c.2096C>G (p.Ala699Gly) c.723C>G (n.723C>G) c.500C>G (p.Ala167Gly) c.1526C>G (p.Ala509Gly) | dbSNP |
| X | g.67711612C>T | CA413423407 | AR | c.*444C>T (n.*444C>T) c.2096C>T (p.Ala699Val) c.723C>T (n.723C>T) c.500C>T (p.Ala167Val) c.1526C>T (p.Ala509Val) | dbSNP |
| X | g.67711613A>C | CA517048485 | AR | c.*445A>C (n.*445A>C) c.2097A>C (p.Ala699=) c.724A>C (n.724A>C) c.501A>C (p.Ala167=) c.1527A>C (p.Ala509=) | gnomAD v4 |
| X | g.67711613A>G | CA517048486 | AR | c.*445A>G (n.*445A>G) c.2097A>G (p.Ala699=) c.724A>G (n.724A>G) c.501A>G (p.Ala167=) c.1527A>G (p.Ala509=) | ClinVar dbSNP |
| X | g.67711613A>T | CA517048490 | AR | c.*445A>T (n.*445A>T) c.2097A>T (p.Ala699=) c.724A>T (n.724A>T) c.501A>T (p.Ala167=) c.1527A>T (p.Ala509=) | dbSNP |
| X | g.67711614G>A | CA413423409 | AR | c.*446G>A (n.*446G>A) c.2098G>A (p.Ala700Thr) c.725G>A (n.725G>A) c.502G>A (p.Ala168Thr) c.1528G>A (p.Ala510Thr) | dbSNP gnomAD v4 |
| X | g.67711614G>C | CA413423410 | AR | c.*446G>C (n.*446G>C) c.2098G>C (p.Ala700Pro) c.725G>C (n.725G>C) c.502G>C (p.Ala168Pro) c.1528G>C (p.Ala510Pro) | dbSNP |
| X | g.67711614G= | CA2435130506 | AR | c.*446G= (n.*446G=) c.2098G= (p.Ala700=) c.725G= (n.725G=) c.502G= (p.Ala168=) c.1528G= (p.Ala510=) | |
| X | g.67711614G>T | CA413423411 | AR | c.*446G>T (n.*446G>T) c.2098G>T (p.Ala700Ser) c.725G>T (n.725G>T) c.502G>T (p.Ala168Ser) c.1528G>T (p.Ala510Ser) | dbSNP gnomAD v4 |
| X | g.67711615C>A | CA413423412 | AR | c.*447C>A (n.*447C>A) c.2099C>A (p.Ala700Asp) c.726C>A (n.726C>A) c.503C>A (p.Ala168Asp) c.1529C>A (p.Ala510Asp) | dbSNP |
| X | g.67711615C>G | CA413423413 | AR | c.*447C>G (n.*447C>G) c.2099C>G (p.Ala700Gly) c.726C>G (n.726C>G) c.503C>G (p.Ala168Gly) c.1529C>G (p.Ala510Gly) | dbSNP |
| X | g.67711615C>T | CA413423414 | AR | c.*447C>T (n.*447C>T) c.2099C>T (p.Ala700Val) c.726C>T (n.726C>T) c.503C>T (p.Ala168Val) c.1529C>T (p.Ala510Val) | dbSNP |
| X | g.67711616C>A | CA517048497 | AR | c.*448C>A (n.*448C>A) c.2100C>A (p.Ala700=) c.727C>A (n.727C>A) c.504C>A (p.Ala168=) c.1530C>A (p.Ala510=) | |
| X | g.67711616C>G | CA517048498 | AR | c.*448C>G (n.*448C>G) c.2100C>G (p.Ala700=) c.727C>G (n.727C>G) c.504C>G (p.Ala168=) c.1530C>G (p.Ala510=) | |
| X | g.67711616C>T | CA517048499 | AR | c.*448C>T (n.*448C>T) c.2100C>T (p.Ala700=) c.727C>T (n.727C>T) c.504C>T (p.Ala168=) c.1530C>T (p.Ala510=) | |
| X | g.67711617T>A | CA413423415 | AR | c.*449T>A (n.*449T>A) c.2101T>A (p.Leu701Met) c.728T>A (n.728T>A) c.505T>A (p.Leu169Met) c.1531T>A (p.Leu511Met) | dbSNP |
| X | g.67711617T>C | CA517048500 | AR | c.*449T>C (n.*449T>C) c.2101T>C (p.Leu701=) c.728T>C (n.728T>C) c.505T>C (p.Leu169=) c.1531T>C (p.Leu511=) | dbSNP |
| X | g.67711617T>G | CA413423416 | AR | c.*449T>G (n.*449T>G) c.2101T>G (p.Leu701Val) c.728T>G (n.728T>G) c.505T>G (p.Leu169Val) c.1531T>G (p.Leu511Val) | |
| X | g.67711617_67711630del | CA2695234364 | AR | c.*449_*462del (n.*449_*462del) c.2101_2114del (p.Leu701GlnfsTer2) c.728_741del (n.728_741del) c.505_518del (p.Leu169GlnfsTer2) c.1531_1544del (p.Leu511GlnfsTer2) | |
| X | g.67711618T>A | CA413423417 | AR | c.*450T>A (n.*450T>A) c.2102T>A (p.Leu701Ter) c.729T>A (n.729T>A) c.506T>A (p.Leu169Ter) c.1532T>A (p.Leu511Ter) | dbSNP |
| X | g.67711618T>C | CA413423418 | AR | c.*450T>C (n.*450T>C) c.2102T>C (p.Leu701Ser) c.729T>C (n.729T>C) c.506T>C (p.Leu169Ser) c.1532T>C (p.Leu511Ser) | dbSNP |
| X | g.67711618T>G | CA413423419 | AR | c.*450T>G (n.*450T>G) c.2102T>G (p.Leu701Trp) c.729T>G (n.729T>G) c.506T>G (p.Leu169Trp) c.1532T>G (p.Leu511Trp) | |
| X | g.67711619G>A | CA517048508 | AR | c.*451G>A (n.*451G>A) c.2103G>A (p.Leu701=) c.730G>A (n.730G>A) c.507G>A (p.Leu169=) c.1533G>A (p.Leu511=) | dbSNP |
| X | g.67711619G>C | CA413423420 | AR | c.*451G>C (n.*451G>C) c.2103G>C (p.Leu701Phe) c.730G>C (n.730G>C) c.507G>C (p.Leu169Phe) c.1533G>C (p.Leu511Phe) | |
| X | g.67711619G= | CA2435130507 | AR | c.*451G= (n.*451G=) c.2103G= (p.Leu701=) c.730G= (n.730G=) c.507G= (p.Leu169=) c.1533G= (p.Leu511=) | |
| X | g.67711619G>T | CA413423421 | AR | c.*451G>T (n.*451G>T) c.2103G>T (p.Leu701Phe) c.730G>T (n.730G>T) c.507G>T (p.Leu169Phe) c.1533G>T (p.Leu511Phe) | ClinVar dbSNP |
| X | g.67711620C>A | CA413423424 | AR | c.*452C>A (n.*452C>A) c.2104C>A (p.Leu702Ile) c.731C>A (n.731C>A) c.508C>A (p.Leu170Ile) c.1534C>A (p.Leu512Ile) | dbSNP |
| X | g.67711620C= | CA2435130508 | AR | c.*452C= (n.*452C=) c.2104C= (p.Leu702=) c.731C= (n.731C=) c.508C= (p.Leu170=) c.1534C= (p.Leu512=) | |
| X | g.67711620C>G | CA413423423 | AR | c.*452C>G (n.*452C>G) c.2104C>G (p.Leu702Val) c.731C>G (n.731C>G) c.508C>G (p.Leu170Val) c.1534C>G (p.Leu512Val) | dbSNP |
| X | g.67711620C>T | CA413423422 | AR | c.*452C>T (n.*452C>T) c.2104C>T (p.Leu702Phe) c.731C>T (n.731C>T) c.508C>T (p.Leu170Phe) c.1534C>T (p.Leu512Phe) | ClinVar dbSNP |
| X | g.67711621T>A | CA348332 | AR | c.*453T>A (n.*453T>A) c.2105T>A (p.Leu702His) c.732T>A (n.732T>A) c.509T>A (p.Leu170His) c.1535T>A (p.Leu512His) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.67711621T>C | CA413423425 | AR | c.*453T>C (n.*453T>C) c.2105T>C (p.Leu702Pro) c.732T>C (n.732T>C) c.509T>C (p.Leu170Pro) c.1535T>C (p.Leu512Pro) | dbSNP |
| X | g.67711621T>G | CA413423426 | AR | c.*453T>G (n.*453T>G) c.2105T>G (p.Leu702Arg) c.732T>G (n.732T>G) c.509T>G (p.Leu170Arg) c.1535T>G (p.Leu512Arg) | |
| X | g.67711621T= | CA2435130509 | AR | c.*453T= (n.*453T=) c.2105T= (p.Leu702=) c.732T= (n.732T=) c.509T= (p.Leu170=) c.1535T= (p.Leu512=) | |
| X | g.67711622C>A | CA517048514 | AR | c.*454C>A (n.*454C>A) c.2106C>A (p.Leu702=) c.733C>A (n.733C>A) c.510C>A (p.Leu170=) c.1536C>A (p.Leu512=) | dbSNP COSMIC COSMIC |
| X | g.67711622C= | CA2435130510 | AR | c.*454C= (n.*454C=) c.2106C= (p.Leu702=) c.733C= (n.733C=) c.510C= (p.Leu170=) c.1536C= (p.Leu512=) | |
| X | g.67711622C>G | CA10436576 | AR | c.*454C>G (n.*454C>G) c.2106C>G (p.Leu702=) c.733C>G (n.733C>G) c.510C>G (p.Leu170=) c.1536C>G (p.Leu512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711622C>T | CA10436577 | AR | c.*454C>T (n.*454C>T) c.2106C>T (p.Leu702=) c.733C>T (n.733C>T) c.510C>T (p.Leu170=) c.1536C>T (p.Leu512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |