Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.123058718T>A | CA383057242 | HSPA8 | c.1436A>T (p.Asp479Val) c.1387+49A>T (n.1387+49A>T) c.209A>T (p.Asp70Val) c.1379A>T (p.Asp460Val) c.92A>T (p.Asp31Val) n.1411A>T c.998A>T (p.Asp333Val) c.728A>T (p.Asp243Val) | |
11 | g.123058718T>C | CA383057243 | HSPA8 | c.1436A>G (p.Asp479Gly) c.1387+49A>G (n.1387+49A>G) c.209A>G (p.Asp70Gly) c.1379A>G (p.Asp460Gly) c.92A>G (p.Asp31Gly) n.1411A>G c.998A>G (p.Asp333Gly) c.728A>G (p.Asp243Gly) | |
11 | g.123058718T>G | CA383057244 | HSPA8 | c.1436A>C (p.Asp479Ala) c.1387+49A>C (n.1387+49A>C) c.209A>C (p.Asp70Ala) c.1379A>C (p.Asp460Ala) c.92A>C (p.Asp31Ala) n.1411A>C c.998A>C (p.Asp333Ala) c.728A>C (p.Asp243Ala) | |
11 | g.123058719C>A | CA383057245 | HSPA8 | c.1435G>T (p.Asp479Tyr) c.1387+48G>T (n.1387+48G>T) c.208G>T (p.Asp70Tyr) c.1378G>T (p.Asp460Tyr) c.91G>T (p.Asp31Tyr) n.1410G>T c.997G>T (p.Asp333Tyr) c.727G>T (p.Asp243Tyr) | |
11 | g.123058719C>G | CA383057246 | HSPA8 | c.1435G>C (p.Asp479His) c.1387+48G>C (n.1387+48G>C) c.208G>C (p.Asp70His) c.1378G>C (p.Asp460His) c.91G>C (p.Asp31His) n.1410G>C c.997G>C (p.Asp333His) c.727G>C (p.Asp243His) | |
11 | g.123058719C>T | CA383057247 | HSPA8 | c.1435G>A (p.Asp479Asn) c.1387+48G>A (n.1387+48G>A) c.208G>A (p.Asp70Asn) c.1378G>A (p.Asp460Asn) c.91G>A (p.Asp31Asn) n.1410G>A c.997G>A (p.Asp333Asn) c.727G>A (p.Asp243Asn) | |
11 | g.123058720A= | CA2005595448 | HSPA8 | c.1434T= (p.Phe478=) c.1387+47T= (n.1387+47T=) c.207T= (p.Phe69=) c.1377T= (p.Phe459=) c.90T= (p.Phe30=) n.1409T= c.996T= (p.Phe332=) c.726T= (p.Phe242=) | |
11 | g.123058720A>C | CA383057249 | HSPA8 | c.1434T>G (p.Phe478Leu) c.1387+47T>G (n.1387+47T>G) c.207T>G (p.Phe69Leu) c.1377T>G (p.Phe459Leu) c.90T>G (p.Phe30Leu) n.1409T>G c.996T>G (p.Phe332Leu) c.726T>G (p.Phe242Leu) | |
11 | g.123058720A>G | CA6332474 | HSPA8 | c.1434T>C (p.Phe478=) c.1387+47T>C (n.1387+47T>C) c.207T>C (p.Phe69=) c.1377T>C (p.Phe459=) c.90T>C (p.Phe30=) n.1409T>C c.996T>C (p.Phe332=) c.726T>C (p.Phe242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058720A>T | CA383057248 | HSPA8 | c.1434T>A (p.Phe478Leu) c.1387+47T>A (n.1387+47T>A) c.207T>A (p.Phe69Leu) c.1377T>A (p.Phe459Leu) c.90T>A (p.Phe30Leu) n.1409T>A c.996T>A (p.Phe332Leu) c.726T>A (p.Phe242Leu) | |
11 | g.123058722_123058723del | CA2616532795 | HSPA8 | c.1433_1434del (p.Phe478Ter) c.1387+46_1387+47del (n.1387+46_1387+47del) c.206_207del (p.Phe69Ter) c.1376_1377del (p.Phe459Ter) c.89_90del (p.Phe30Ter) n.1408_1409del c.995_996del (p.Phe332Ter) c.725_726del (p.Phe242Ter) | gnomAD v4 |
11 | g.123058721A>C | CA383057250 | HSPA8 | c.1433T>G (p.Phe478Cys) c.1387+46T>G (n.1387+46T>G) c.206T>G (p.Phe69Cys) c.1376T>G (p.Phe459Cys) c.89T>G (p.Phe30Cys) n.1408T>G c.995T>G (p.Phe332Cys) c.725T>G (p.Phe242Cys) | |
11 | g.123058721A>G | CA383057252 | HSPA8 | c.1433T>C (p.Phe478Ser) c.1387+46T>C (n.1387+46T>C) c.206T>C (p.Phe69Ser) c.1376T>C (p.Phe459Ser) c.89T>C (p.Phe30Ser) n.1408T>C c.995T>C (p.Phe332Ser) c.725T>C (p.Phe242Ser) | |
11 | g.123058721A>T | CA383057251 | HSPA8 | c.1433T>A (p.Phe478Tyr) c.1387+46T>A (n.1387+46T>A) c.206T>A (p.Phe69Tyr) c.1376T>A (p.Phe459Tyr) c.89T>A (p.Phe30Tyr) n.1408T>A c.995T>A (p.Phe332Tyr) c.725T>A (p.Phe242Tyr) | |
11 | g.123058722A>C | CA383057253 | HSPA8 | c.1432T>G (p.Phe478Val) c.1387+45T>G (n.1387+45T>G) c.205T>G (p.Phe69Val) c.1375T>G (p.Phe459Val) c.88T>G (p.Phe30Val) n.1407T>G c.994T>G (p.Phe332Val) c.724T>G (p.Phe242Val) | |
11 | g.123058722A>G | CA383057254 | HSPA8 | c.1432T>C (p.Phe478Leu) c.1387+45T>C (n.1387+45T>C) c.205T>C (p.Phe69Leu) c.1375T>C (p.Phe459Leu) c.88T>C (p.Phe30Leu) n.1407T>C c.994T>C (p.Phe332Leu) c.724T>C (p.Phe242Leu) | gnomAD v4 |
11 | g.123058722A>T | CA383057255 | HSPA8 | c.1432T>A (p.Phe478Ile) c.1387+45T>A (n.1387+45T>A) c.205T>A (p.Phe69Ile) c.1375T>A (p.Phe459Ile) c.88T>A (p.Phe30Ile) n.1407T>A c.994T>A (p.Phe332Ile) c.724T>A (p.Phe242Ile) | |
11 | g.123058723A= | CA2005595452 | HSPA8 | c.1431T= (p.Thr477=) c.1387+44T= (n.1387+44T=) c.204T= (p.Thr68=) c.1374T= (p.Thr458=) c.87T= (p.Thr29=) n.1406T= c.993T= (p.Thr331=) c.723T= (p.Thr241=) | |
11 | g.123058723A>C | CA477385327 | HSPA8 | c.1431T>G (p.Thr477=) c.1387+44T>G (n.1387+44T>G) c.204T>G (p.Thr68=) c.1374T>G (p.Thr458=) c.87T>G (p.Thr29=) n.1406T>G c.993T>G (p.Thr331=) c.723T>G (p.Thr241=) | |
11 | g.123058723A>G | CA477385326 | HSPA8 | c.1431T>C (p.Thr477=) c.1387+44T>C (n.1387+44T>C) c.204T>C (p.Thr68=) c.1374T>C (p.Thr458=) c.87T>C (p.Thr29=) n.1406T>C c.993T>C (p.Thr331=) c.723T>C (p.Thr241=) | dbSNP |
11 | g.123058723A>T | CA477385325 | HSPA8 | c.1431T>A (p.Thr477=) c.1387+44T>A (n.1387+44T>A) c.204T>A (p.Thr68=) c.1374T>A (p.Thr458=) c.87T>A (p.Thr29=) n.1406T>A c.993T>A (p.Thr331=) c.723T>A (p.Thr241=) | dbSNP |
11 | g.123058724G>A | CA383057256 | HSPA8 | c.1430C>T (p.Thr477Ile) c.1387+43C>T (n.1387+43C>T) c.203C>T (p.Thr68Ile) c.1373C>T (p.Thr458Ile) c.86C>T (p.Thr29Ile) n.1405C>T c.992C>T (p.Thr331Ile) c.722C>T (p.Thr241Ile) | |
11 | g.123058724G>C | CA383057257 | HSPA8 | c.1430C>G (p.Thr477Ser) c.1387+43C>G (n.1387+43C>G) c.203C>G (p.Thr68Ser) c.1373C>G (p.Thr458Ser) c.86C>G (p.Thr29Ser) n.1405C>G c.992C>G (p.Thr331Ser) c.722C>G (p.Thr241Ser) | |
11 | g.123058724G>T | CA383057258 | HSPA8 | c.1430C>A (p.Thr477Asn) c.1387+43C>A (n.1387+43C>A) c.203C>A (p.Thr68Asn) c.1373C>A (p.Thr458Asn) c.86C>A (p.Thr29Asn) n.1405C>A c.992C>A (p.Thr331Asn) c.722C>A (p.Thr241Asn) | |
11 | g.123058725T>A | CA383057259 | HSPA8 | c.1429A>T (p.Thr477Ser) c.1387+42A>T (n.1387+42A>T) c.202A>T (p.Thr68Ser) c.1372A>T (p.Thr458Ser) c.85A>T (p.Thr29Ser) n.1404A>T c.991A>T (p.Thr331Ser) c.721A>T (p.Thr241Ser) | |
11 | g.123058725T>C | CA383057260 | HSPA8 | c.1429A>G (p.Thr477Ala) c.1387+42A>G (n.1387+42A>G) c.202A>G (p.Thr68Ala) c.1372A>G (p.Thr458Ala) c.85A>G (p.Thr29Ala) n.1404A>G c.991A>G (p.Thr331Ala) c.721A>G (p.Thr241Ala) | |
11 | g.123058725T>G | CA383057261 | HSPA8 | c.1429A>C (p.Thr477Pro) c.1387+42A>C (n.1387+42A>C) c.202A>C (p.Thr68Pro) c.1372A>C (p.Thr458Pro) c.85A>C (p.Thr29Pro) n.1404A>C c.991A>C (p.Thr331Pro) c.721A>C (p.Thr241Pro) | |
11 | g.123058726G>A | CA477385329 | HSPA8 | c.1428C>T (p.Val476=) c.1387+41C>T (n.1387+41C>T) c.201C>T (p.Val67=) c.1371C>T (p.Val457=) c.84C>T (p.Val28=) n.1403C>T c.990C>T (p.Val330=) c.720C>T (p.Val240=) | dbSNP gnomAD v4 |
11 | g.123058726G>C | CA229966859 | HSPA8 | c.1428C>G (p.Val476=) c.1387+41C>G (n.1387+41C>G) c.201C>G (p.Val67=) c.1371C>G (p.Val457=) c.84C>G (p.Val28=) n.1403C>G c.990C>G (p.Val330=) c.720C>G (p.Val240=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058726G= | CA2005595481 | HSPA8 | c.1428C= (p.Val476=) c.1387+41C= (n.1387+41C=) c.201C= (p.Val67=) c.1371C= (p.Val457=) c.84C= (p.Val28=) n.1403C= c.990C= (p.Val330=) c.720C= (p.Val240=) | |
11 | g.123058726G>T | CA477385328 | HSPA8 | c.1428C>A (p.Val476=) c.1387+41C>A (n.1387+41C>A) c.201C>A (p.Val67=) c.1371C>A (p.Val457=) c.84C>A (p.Val28=) n.1403C>A c.990C>A (p.Val330=) c.720C>A (p.Val240=) | dbSNP gnomAD v4 |
11 | g.123058727A>C | CA383057262 | HSPA8 | c.1427T>G (p.Val476Gly) c.1387+40T>G (n.1387+40T>G) c.200T>G (p.Val67Gly) c.1370T>G (p.Val457Gly) c.83T>G (p.Val28Gly) n.1402T>G c.989T>G (p.Val330Gly) c.719T>G (p.Val240Gly) | |
11 | g.123058727A>G | CA383057263 | HSPA8 | c.1427T>C (p.Val476Ala) c.1387+40T>C (n.1387+40T>C) c.200T>C (p.Val67Ala) c.1370T>C (p.Val457Ala) c.83T>C (p.Val28Ala) n.1402T>C c.989T>C (p.Val330Ala) c.719T>C (p.Val240Ala) | |
11 | g.123058727A>T | CA383057264 | HSPA8 | c.1427T>A (p.Val476Asp) c.1387+40T>A (n.1387+40T>A) c.200T>A (p.Val67Asp) c.1370T>A (p.Val457Asp) c.83T>A (p.Val28Asp) n.1402T>A c.989T>A (p.Val330Asp) c.719T>A (p.Val240Asp) | |
11 | g.123058728C>A | CA383057267 | HSPA8 | c.1426G>T (p.Val476Phe) c.1387+39G>T (n.1387+39G>T) c.199G>T (p.Val67Phe) c.1369G>T (p.Val457Phe) c.82G>T (p.Val28Phe) n.1401G>T c.988G>T (p.Val330Phe) c.718G>T (p.Val240Phe) | |
11 | g.123058728C= | CA2005595487 | HSPA8 | c.1426G= (p.Val476=) c.1387+39G= (n.1387+39G=) c.199G= (p.Val67=) c.1369G= (p.Val457=) c.82G= (p.Val28=) n.1401G= c.988G= (p.Val330=) c.718G= (p.Val240=) | |
11 | g.123058728C>G | CA383057266 | HSPA8 | c.1426G>C (p.Val476Leu) c.1387+39G>C (n.1387+39G>C) c.199G>C (p.Val67Leu) c.1369G>C (p.Val457Leu) c.82G>C (p.Val28Leu) n.1401G>C c.988G>C (p.Val330Leu) c.718G>C (p.Val240Leu) | dbSNP |
11 | g.123058728C>T | CA383057265 | HSPA8 | c.1426G>A (p.Val476Ile) c.1387+39G>A (n.1387+39G>A) c.199G>A (p.Val67Ile) c.1369G>A (p.Val457Ile) c.82G>A (p.Val28Ile) n.1401G>A c.988G>A (p.Val330Ile) c.718G>A (p.Val240Ile) | |
11 | g.123058729T>A | CA383057268 | HSPA8 | c.1425A>T (p.Glu475Asp) c.1387+38A>T (n.1387+38A>T) c.198A>T (p.Glu66Asp) c.1368A>T (p.Glu456Asp) c.81A>T (p.Glu27Asp) n.1400A>T c.987A>T (p.Glu329Asp) c.717A>T (p.Glu239Asp) | |
11 | g.123058729T>C | CA6332475 | HSPA8 | c.1425A>G (p.Glu475=) c.1387+38A>G (n.1387+38A>G) c.198A>G (p.Glu66=) c.1368A>G (p.Glu456=) c.81A>G (p.Glu27=) n.1400A>G c.987A>G (p.Glu329=) c.717A>G (p.Glu239=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058729T>G | CA383057269 | HSPA8 | c.1425A>C (p.Glu475Asp) c.1387+38A>C (n.1387+38A>C) c.198A>C (p.Glu66Asp) c.1368A>C (p.Glu456Asp) c.81A>C (p.Glu27Asp) n.1400A>C c.987A>C (p.Glu329Asp) c.717A>C (p.Glu239Asp) | |
11 | g.123058729T= | CA2005595494 | HSPA8 | c.1425A= (p.Glu475=) c.1387+38A= (n.1387+38A=) c.198A= (p.Glu66=) c.1368A= (p.Glu456=) c.81A= (p.Glu27=) n.1400A= c.987A= (p.Glu329=) c.717A= (p.Glu239=) | |
11 | g.123058730T>A | CA383057270 | HSPA8 | c.1424A>T (p.Glu475Val) c.1387+37A>T (n.1387+37A>T) c.197A>T (p.Glu66Val) c.1367A>T (p.Glu456Val) c.80A>T (p.Glu27Val) n.1399A>T c.986A>T (p.Glu329Val) c.716A>T (p.Glu239Val) | |
11 | g.123058730T>C | CA383057271 | HSPA8 | c.1424A>G (p.Glu475Gly) c.1387+37A>G (n.1387+37A>G) c.197A>G (p.Glu66Gly) c.1367A>G (p.Glu456Gly) c.80A>G (p.Glu27Gly) n.1399A>G c.986A>G (p.Glu329Gly) c.716A>G (p.Glu239Gly) | |
11 | g.123058730T>G | CA383057272 | HSPA8 | c.1424A>C (p.Glu475Ala) c.1387+37A>C (n.1387+37A>C) c.197A>C (p.Glu66Ala) c.1367A>C (p.Glu456Ala) c.80A>C (p.Glu27Ala) n.1399A>C c.986A>C (p.Glu329Ala) c.716A>C (p.Glu239Ala) | |
11 | g.123058731C>A | CA383057273 | HSPA8 | c.1423G>T (p.Glu475Ter) c.1387+36G>T (n.1387+36G>T) c.196G>T (p.Glu66Ter) c.1366G>T (p.Glu456Ter) c.79G>T (p.Glu27Ter) n.1398G>T c.985G>T (p.Glu329Ter) c.715G>T (p.Glu239Ter) | |
11 | g.123058731C>G | CA383057274 | HSPA8 | c.1423G>C (p.Glu475Gln) c.1387+36G>C (n.1387+36G>C) c.196G>C (p.Glu66Gln) c.1366G>C (p.Glu456Gln) c.79G>C (p.Glu27Gln) n.1398G>C c.985G>C (p.Glu329Gln) c.715G>C (p.Glu239Gln) | |
11 | g.123058731C>T | CA383057275 | HSPA8 | c.1423G>A (p.Glu475Lys) c.1387+36G>A (n.1387+36G>A) c.196G>A (p.Glu66Lys) c.1366G>A (p.Glu456Lys) c.79G>A (p.Glu27Lys) n.1398G>A c.985G>A (p.Glu329Lys) c.715G>A (p.Glu239Lys) | |
11 | g.123058732A= | CA2005595500 | HSPA8 | c.1422T= (p.Ile474=) c.1387+35T= (n.1387+35T=) c.195T= (p.Ile65=) c.1365T= (p.Ile455=) c.78T= (p.Ile26=) n.1397T= c.984T= (p.Ile328=) c.714T= (p.Ile238=) | |
11 | g.123058732A>C | CA383057276 | HSPA8 | c.1422T>G (p.Ile474Met) c.1387+35T>G (n.1387+35T>G) c.195T>G (p.Ile65Met) c.1365T>G (p.Ile455Met) c.78T>G (p.Ile26Met) n.1397T>G c.984T>G (p.Ile328Met) c.714T>G (p.Ile238Met) | |
11 | g.123058732A>G | CA477385330 | HSPA8 | c.1422T>C (p.Ile474=) c.1387+35T>C (n.1387+35T>C) c.195T>C (p.Ile65=) c.1365T>C (p.Ile455=) c.78T>C (p.Ile26=) n.1397T>C c.984T>C (p.Ile328=) c.714T>C (p.Ile238=) | dbSNP |
11 | g.123058732A>T | CA477385331 | HSPA8 | c.1422T>A (p.Ile474=) c.1387+35T>A (n.1387+35T>A) c.195T>A (p.Ile65=) c.1365T>A (p.Ile455=) c.78T>A (p.Ile26=) n.1397T>A c.984T>A (p.Ile328=) c.714T>A (p.Ile238=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058733A>C | CA383057277 | HSPA8 | c.1421T>G (p.Ile474Ser) c.1387+34T>G (n.1387+34T>G) c.194T>G (p.Ile65Ser) c.1364T>G (p.Ile455Ser) c.77T>G (p.Ile26Ser) n.1396T>G c.983T>G (p.Ile328Ser) c.713T>G (p.Ile238Ser) | |
11 | g.123058733A>G | CA383057278 | HSPA8 | c.1421T>C (p.Ile474Thr) c.1387+34T>C (n.1387+34T>C) c.194T>C (p.Ile65Thr) c.1364T>C (p.Ile455Thr) c.77T>C (p.Ile26Thr) n.1396T>C c.983T>C (p.Ile328Thr) c.713T>C (p.Ile238Thr) | |
11 | g.123058733A>T | CA383057279 | HSPA8 | c.1421T>A (p.Ile474Asn) c.1387+34T>A (n.1387+34T>A) c.194T>A (p.Ile65Asn) c.1364T>A (p.Ile455Asn) c.77T>A (p.Ile26Asn) n.1396T>A c.983T>A (p.Ile328Asn) c.713T>A (p.Ile238Asn) | |
11 | g.123058734T>A | CA383057281 | HSPA8 | c.1420A>T (p.Ile474Phe) c.1387+33A>T (n.1387+33A>T) c.193A>T (p.Ile65Phe) c.1363A>T (p.Ile455Phe) c.76A>T (p.Ile26Phe) n.1395A>T c.982A>T (p.Ile328Phe) c.712A>T (p.Ile238Phe) | |
11 | g.123058734T>C | CA383057282 | HSPA8 | c.1420A>G (p.Ile474Val) c.1387+33A>G (n.1387+33A>G) c.193A>G (p.Ile65Val) c.1363A>G (p.Ile455Val) c.76A>G (p.Ile26Val) n.1395A>G c.982A>G (p.Ile328Val) c.712A>G (p.Ile238Val) | |
11 | g.123058734T>G | CA383057280 | HSPA8 | c.1420A>C (p.Ile474Leu) c.1387+33A>C (n.1387+33A>C) c.193A>C (p.Ile65Leu) c.1363A>C (p.Ile455Leu) c.76A>C (p.Ile26Leu) n.1395A>C c.982A>C (p.Ile328Leu) c.712A>C (p.Ile238Leu) | |
11 | g.123058735C>A | CA383057283 | HSPA8 | c.1419G>T (p.Gln473His) c.1387+32G>T (n.1387+32G>T) c.192G>T (p.Gln64His) c.1362G>T (p.Gln454His) c.75G>T (p.Gln25His) n.1394G>T c.981G>T (p.Gln327His) c.711G>T (p.Gln237His) | |
11 | g.123058735C= | CA2005595503 | HSPA8 | c.1419G= (p.Gln473=) c.1387+32G= (n.1387+32G=) c.192G= (p.Gln64=) c.1362G= (p.Gln454=) c.75G= (p.Gln25=) n.1394G= c.981G= (p.Gln327=) c.711G= (p.Gln237=) | |
11 | g.123058735C>G | CA383057284 | HSPA8 | c.1419G>C (p.Gln473His) c.1387+32G>C (n.1387+32G>C) c.192G>C (p.Gln64His) c.1362G>C (p.Gln454His) c.75G>C (p.Gln25His) n.1394G>C c.981G>C (p.Gln327His) c.711G>C (p.Gln237His) | |
11 | g.123058735C>T | CA477385332 | HSPA8 | c.1419G>A (p.Gln473=) c.1387+32G>A (n.1387+32G>A) c.192G>A (p.Gln64=) c.1362G>A (p.Gln454=) c.75G>A (p.Gln25=) n.1394G>A c.981G>A (p.Gln327=) c.711G>A (p.Gln237=) | dbSNP gnomAD v4 |
11 | g.123058736T>A | CA383057285 | HSPA8 | c.1418A>T (p.Gln473Leu) c.1387+31A>T (n.1387+31A>T) c.191A>T (p.Gln64Leu) c.1361A>T (p.Gln454Leu) c.74A>T (p.Gln25Leu) n.1393A>T c.980A>T (p.Gln327Leu) c.710A>T (p.Gln237Leu) | |
11 | g.123058736T>C | CA383057286 | HSPA8 | c.1418A>G (p.Gln473Arg) c.1387+31A>G (n.1387+31A>G) c.191A>G (p.Gln64Arg) c.1361A>G (p.Gln454Arg) c.74A>G (p.Gln25Arg) n.1393A>G c.980A>G (p.Gln327Arg) c.710A>G (p.Gln237Arg) | dbSNP |
11 | g.123058736T>G | CA383057287 | HSPA8 | c.1418A>C (p.Gln473Pro) c.1387+31A>C (n.1387+31A>C) c.191A>C (p.Gln64Pro) c.1361A>C (p.Gln454Pro) c.74A>C (p.Gln25Pro) n.1393A>C c.980A>C (p.Gln327Pro) c.710A>C (p.Gln237Pro) | |
11 | g.123058736T= | CA2005595507 | HSPA8 | c.1418A= (p.Gln473=) c.1387+31A= (n.1387+31A=) c.191A= (p.Gln64=) c.1361A= (p.Gln454=) c.74A= (p.Gln25=) n.1393A= c.980A= (p.Gln327=) c.710A= (p.Gln237=) | |
11 | g.123058737G>A | CA383057288 | HSPA8 | c.1417C>T (p.Gln473Ter) c.1387+30C>T (n.1387+30C>T) c.190C>T (p.Gln64Ter) c.1360C>T (p.Gln454Ter) c.73C>T (p.Gln25Ter) n.1392C>T c.979C>T (p.Gln327Ter) c.709C>T (p.Gln237Ter) | |
11 | g.123058737G>C | CA383057289 | HSPA8 | c.1417C>G (p.Gln473Glu) c.1387+30C>G (n.1387+30C>G) c.190C>G (p.Gln64Glu) c.1360C>G (p.Gln454Glu) c.73C>G (p.Gln25Glu) n.1392C>G c.979C>G (p.Gln327Glu) c.709C>G (p.Gln237Glu) | |
11 | g.123058737G>T | CA383057290 | HSPA8 | c.1417C>A (p.Gln473Lys) c.1387+30C>A (n.1387+30C>A) c.190C>A (p.Gln64Lys) c.1360C>A (p.Gln454Lys) c.73C>A (p.Gln25Lys) n.1392C>A c.979C>A (p.Gln327Lys) c.709C>A (p.Gln237Lys) | |
11 | g.123058738A= | CA2005595508 | HSPA8 | c.1416T= (p.Pro472=) c.1387+29T= (n.1387+29T=) c.189T= (p.Pro63=) c.1359T= (p.Pro453=) c.72T= (p.Pro24=) n.1391T= c.978T= (p.Pro326=) c.708T= (p.Pro236=) | |
11 | g.123058738A>C | CA477385333 | HSPA8 | c.1416T>G (p.Pro472=) c.1387+29T>G (n.1387+29T>G) c.189T>G (p.Pro63=) c.1359T>G (p.Pro453=) c.72T>G (p.Pro24=) n.1391T>G c.978T>G (p.Pro326=) c.708T>G (p.Pro236=) | |
11 | g.123058738A>G | CA477385334 | HSPA8 | c.1416T>C (p.Pro472=) c.1387+29T>C (n.1387+29T>C) c.189T>C (p.Pro63=) c.1359T>C (p.Pro453=) c.72T>C (p.Pro24=) n.1391T>C c.978T>C (p.Pro326=) c.708T>C (p.Pro236=) | dbSNP gnomAD v4 |
11 | g.123058738A>T | CA477385335 | HSPA8 | c.1416T>A (p.Pro472=) c.1387+29T>A (n.1387+29T>A) c.189T>A (p.Pro63=) c.1359T>A (p.Pro453=) c.72T>A (p.Pro24=) n.1391T>A c.978T>A (p.Pro326=) c.708T>A (p.Pro236=) | dbSNP |
11 | g.123058739G>A | CA383057291 | HSPA8 | c.1415C>T (p.Pro472Leu) c.1387+28C>T (n.1387+28C>T) c.188C>T (p.Pro63Leu) c.1358C>T (p.Pro453Leu) c.71C>T (p.Pro24Leu) n.1390C>T c.977C>T (p.Pro326Leu) c.707C>T (p.Pro236Leu) | COSMIC |
11 | g.123058739G>C | CA383057292 | HSPA8 | c.1415C>G (p.Pro472Arg) c.1387+28C>G (n.1387+28C>G) c.188C>G (p.Pro63Arg) c.1358C>G (p.Pro453Arg) c.71C>G (p.Pro24Arg) n.1390C>G c.977C>G (p.Pro326Arg) c.707C>G (p.Pro236Arg) | |
11 | g.123058739G>T | CA383057293 | HSPA8 | c.1415C>A (p.Pro472His) c.1387+28C>A (n.1387+28C>A) c.188C>A (p.Pro63His) c.1358C>A (p.Pro453His) c.71C>A (p.Pro24His) n.1390C>A c.977C>A (p.Pro326His) c.707C>A (p.Pro236His) | |
11 | g.123058740G>A | CA383057296 | HSPA8 | c.1414C>T (p.Pro472Ser) c.1387+27C>T (n.1387+27C>T) c.187C>T (p.Pro63Ser) c.1357C>T (p.Pro453Ser) c.70C>T (p.Pro24Ser) n.1389C>T c.976C>T (p.Pro326Ser) c.706C>T (p.Pro236Ser) | |
11 | g.123058740G>C | CA383057295 | HSPA8 | c.1414C>G (p.Pro472Ala) c.1387+27C>G (n.1387+27C>G) c.187C>G (p.Pro63Ala) c.1357C>G (p.Pro453Ala) c.70C>G (p.Pro24Ala) n.1389C>G c.976C>G (p.Pro326Ala) c.706C>G (p.Pro236Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058740G= | CA2005595512 | HSPA8 | c.1414C= (p.Pro472=) c.1387+27C= (n.1387+27C=) c.187C= (p.Pro63=) c.1357C= (p.Pro453=) c.70C= (p.Pro24=) n.1389C= c.976C= (p.Pro326=) c.706C= (p.Pro236=) | |
11 | g.123058740G>T | CA383057294 | HSPA8 | c.1414C>A (p.Pro472Thr) c.1387+27C>A (n.1387+27C>A) c.187C>A (p.Pro63Thr) c.1357C>A (p.Pro453Thr) c.70C>A (p.Pro24Thr) n.1389C>A c.976C>A (p.Pro326Thr) c.706C>A (p.Pro236Thr) | |
11 | g.123058741A>C | CA477385336 | HSPA8 | c.1413T>G (p.Val471=) c.1387+26T>G (n.1387+26T>G) c.186T>G (p.Val62=) c.1356T>G (p.Val452=) c.69T>G (p.Val23=) n.1388T>G c.975T>G (p.Val325=) c.705T>G (p.Val235=) | |
11 | g.123058741A>G | CA477385337 | HSPA8 | c.1413T>C (p.Val471=) c.1387+26T>C (n.1387+26T>C) c.186T>C (p.Val62=) c.1356T>C (p.Val452=) c.69T>C (p.Val23=) n.1388T>C c.975T>C (p.Val325=) c.705T>C (p.Val235=) | |
11 | g.123058741A>T | CA477385338 | HSPA8 | c.1413T>A (p.Val471=) c.1387+26T>A (n.1387+26T>A) c.186T>A (p.Val62=) c.1356T>A (p.Val452=) c.69T>A (p.Val23=) n.1388T>A c.975T>A (p.Val325=) c.705T>A (p.Val235=) | |
11 | g.123058742A>C | CA383057297 | HSPA8 | c.1412T>G (p.Val471Gly) c.1387+25T>G (n.1387+25T>G) c.185T>G (p.Val62Gly) c.1355T>G (p.Val452Gly) c.68T>G (p.Val23Gly) n.1387T>G c.974T>G (p.Val325Gly) c.704T>G (p.Val235Gly) | |
11 | g.123058742A>G | CA383057298 | HSPA8 | c.1412T>C (p.Val471Ala) c.1387+25T>C (n.1387+25T>C) c.185T>C (p.Val62Ala) c.1355T>C (p.Val452Ala) c.68T>C (p.Val23Ala) n.1387T>C c.974T>C (p.Val325Ala) c.704T>C (p.Val235Ala) | |
11 | g.123058742A>T | CA383057299 | HSPA8 | c.1412T>A (p.Val471Asp) c.1387+25T>A (n.1387+25T>A) c.185T>A (p.Val62Asp) c.1355T>A (p.Val452Asp) c.68T>A (p.Val23Asp) n.1387T>A c.974T>A (p.Val325Asp) c.704T>A (p.Val235Asp) | |
11 | g.123058743C>A | CA383057300 | HSPA8 | c.1411G>T (p.Val471Phe) c.1387+24G>T (n.1387+24G>T) c.184G>T (p.Val62Phe) c.1354G>T (p.Val452Phe) c.67G>T (p.Val23Phe) n.1386G>T c.973G>T (p.Val325Phe) c.703G>T (p.Val235Phe) | |
11 | g.123058743C>G | CA383057301 | HSPA8 | c.1411G>C (p.Val471Leu) c.1387+24G>C (n.1387+24G>C) c.184G>C (p.Val62Leu) c.1354G>C (p.Val452Leu) c.67G>C (p.Val23Leu) n.1386G>C c.973G>C (p.Val325Leu) c.703G>C (p.Val235Leu) | |
11 | g.123058743C>T | CA383057302 | HSPA8 | c.1411G>A (p.Val471Ile) c.1387+24G>A (n.1387+24G>A) c.184G>A (p.Val62Ile) c.1354G>A (p.Val452Ile) c.67G>A (p.Val23Ile) n.1386G>A c.973G>A (p.Val325Ile) c.703G>A (p.Val235Ile) | |
11 | g.123058744A= | CA2005595518 | HSPA8 | c.1410T= (p.Gly470=) c.1387+23T= (n.1387+23T=) c.183T= (p.Gly61=) c.1353T= (p.Gly451=) c.66T= (p.Gly22=) n.1385T= c.972T= (p.Gly324=) c.702T= (p.Gly234=) | |
11 | g.123058744A>C | CA477385339 | HSPA8 | c.1410T>G (p.Gly470=) c.1387+23T>G (n.1387+23T>G) c.183T>G (p.Gly61=) c.1353T>G (p.Gly451=) c.66T>G (p.Gly22=) n.1385T>G c.972T>G (p.Gly324=) c.702T>G (p.Gly234=) | |
11 | g.123058744A>G | CA229966865 | HSPA8 | c.1410T>C (p.Gly470=) c.1387+23T>C (n.1387+23T>C) c.183T>C (p.Gly61=) c.1353T>C (p.Gly451=) c.66T>C (p.Gly22=) n.1385T>C c.972T>C (p.Gly324=) c.702T>C (p.Gly234=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.123058744A>T | CA477385340 | HSPA8 | c.1410T>A (p.Gly470=) c.1387+23T>A (n.1387+23T>A) c.183T>A (p.Gly61=) c.1353T>A (p.Gly451=) c.66T>A (p.Gly22=) n.1385T>A c.972T>A (p.Gly324=) c.702T>A (p.Gly234=) | |
11 | g.123058745C>A | CA383057303 | HSPA8 | c.1409G>T (p.Gly470Val) c.1387+22G>T (n.1387+22G>T) c.182G>T (p.Gly61Val) c.1352G>T (p.Gly451Val) c.65G>T (p.Gly22Val) n.1384G>T c.971G>T (p.Gly324Val) c.701G>T (p.Gly234Val) | |
11 | g.123058745C>G | CA383057304 | HSPA8 | c.1409G>C (p.Gly470Ala) c.1387+22G>C (n.1387+22G>C) c.182G>C (p.Gly61Ala) c.1352G>C (p.Gly451Ala) c.65G>C (p.Gly22Ala) n.1384G>C c.971G>C (p.Gly324Ala) c.701G>C (p.Gly234Ala) | |
11 | g.123058745C>T | CA383057305 | HSPA8 | c.1409G>A (p.Gly470Asp) c.1387+22G>A (n.1387+22G>A) c.182G>A (p.Gly61Asp) c.1352G>A (p.Gly451Asp) c.65G>A (p.Gly22Asp) n.1384G>A c.971G>A (p.Gly324Asp) c.701G>A (p.Gly234Asp) | |
11 | g.123058746C>A | CA383057306 | HSPA8 | c.1408G>T (p.Gly470Cys) c.1387+21G>T (n.1387+21G>T) c.181G>T (p.Gly61Cys) c.1351G>T (p.Gly451Cys) c.64G>T (p.Gly22Cys) n.1383G>T c.970G>T (p.Gly324Cys) c.700G>T (p.Gly234Cys) | |
11 | g.123058746C>G | CA383057307 | HSPA8 | c.1408G>C (p.Gly470Arg) c.1387+21G>C (n.1387+21G>C) c.181G>C (p.Gly61Arg) c.1351G>C (p.Gly451Arg) c.64G>C (p.Gly22Arg) n.1383G>C c.970G>C (p.Gly324Arg) c.700G>C (p.Gly234Arg) | |
11 | g.123058746C>T | CA383057308 | HSPA8 | c.1408G>A (p.Gly470Ser) c.1387+21G>A (n.1387+21G>A) c.181G>A (p.Gly61Ser) c.1351G>A (p.Gly451Ser) c.64G>A (p.Gly22Ser) n.1383G>A c.970G>A (p.Gly324Ser) c.700G>A (p.Gly234Ser) | |
11 | g.123058747T>A | CA477385341 | HSPA8 | c.1407A>T (p.Arg469=) c.1387+20A>T (n.1387+20A>T) c.180A>T (p.Arg60=) c.1350A>T (p.Arg450=) c.63A>T (p.Arg21=) n.1382A>T c.969A>T (p.Arg323=) c.699A>T (p.Arg233=) | gnomAD v4 |
11 | g.123058747T>C | CA477385342 | HSPA8 | c.1407A>G (p.Arg469=) c.1387+20A>G (n.1387+20A>G) c.180A>G (p.Arg60=) c.1350A>G (p.Arg450=) c.63A>G (p.Arg21=) n.1382A>G c.969A>G (p.Arg323=) c.699A>G (p.Arg233=) | gnomAD v4 |
11 | g.123058747T>G | CA477385343 | HSPA8 | c.1407A>C (p.Arg469=) c.1387+20A>C (n.1387+20A>C) c.180A>C (p.Arg60=) c.1350A>C (p.Arg450=) c.63A>C (p.Arg21=) n.1382A>C c.969A>C (p.Arg323=) c.699A>C (p.Arg233=) | gnomAD v4 |
11 | g.123058748C>A | CA383057310 | HSPA8 | c.1406G>T (p.Arg469Leu) c.1387+19G>T (n.1387+19G>T) c.179G>T (p.Arg60Leu) c.1349G>T (p.Arg450Leu) c.62G>T (p.Arg21Leu) n.1381G>T c.968G>T (p.Arg323Leu) c.698G>T (p.Arg233Leu) | |
11 | g.123058748C>G | CA383057311 | HSPA8 | c.1406G>C (p.Arg469Pro) c.1387+19G>C (n.1387+19G>C) c.179G>C (p.Arg60Pro) c.1349G>C (p.Arg450Pro) c.62G>C (p.Arg21Pro) n.1381G>C c.968G>C (p.Arg323Pro) c.698G>C (p.Arg233Pro) | |
11 | g.123058748C>T | CA383057309 | HSPA8 | c.1406G>A (p.Arg469Gln) c.1387+19G>A (n.1387+19G>A) c.179G>A (p.Arg60Gln) c.1349G>A (p.Arg450Gln) c.62G>A (p.Arg21Gln) n.1381G>A c.968G>A (p.Arg323Gln) c.698G>A (p.Arg233Gln) | |
11 | g.123058749G>A | CA383057313 | HSPA8 | c.1405C>T (p.Arg469Ter) c.1387+18C>T (n.1387+18C>T) c.178C>T (p.Arg60Ter) c.1348C>T (p.Arg450Ter) c.61C>T (p.Arg21Ter) n.1380C>T c.967C>T (p.Arg323Ter) c.697C>T (p.Arg233Ter) | |
11 | g.123058749G>C | CA383057312 | HSPA8 | c.1405C>G (p.Arg469Gly) c.1387+18C>G (n.1387+18C>G) c.178C>G (p.Arg60Gly) c.1348C>G (p.Arg450Gly) c.61C>G (p.Arg21Gly) n.1380C>G c.967C>G (p.Arg323Gly) c.697C>G (p.Arg233Gly) | |
11 | g.123058749G>T | CA477385344 | HSPA8 | c.1405C>A (p.Arg469=) c.1387+18C>A (n.1387+18C>A) c.178C>A (p.Arg60=) c.1348C>A (p.Arg450=) c.61C>A (p.Arg21=) n.1380C>A c.967C>A (p.Arg323=) c.697C>A (p.Arg233=) | |
11 | g.123058752dup | CA2839430439 | HSPA8 | c.1405dup (p.Arg469ProfsTer7) c.1387+18dup (n.1387+18dup) c.178dup (p.Arg60ProfsTer7) c.1348dup (p.Arg450ProfsTer7) c.61dup (p.Arg21ProfsTer7) n.1380dup c.967dup (p.Arg323ProfsTer7) c.697dup (p.Arg233ProfsTer7) | |
11 | g.123058750G>A | CA477385347 | HSPA8 | c.1404C>T (p.Pro468=) c.1387+17C>T (n.1387+17C>T) c.177C>T (p.Pro59=) c.1347C>T (p.Pro449=) c.60C>T (p.Pro20=) n.1379C>T c.966C>T (p.Pro322=) c.696C>T (p.Pro232=) | COSMIC |
11 | g.123058750G>C | CA477385345 | HSPA8 | c.1404C>G (p.Pro468=) c.1387+17C>G (n.1387+17C>G) c.177C>G (p.Pro59=) c.1347C>G (p.Pro449=) c.60C>G (p.Pro20=) n.1379C>G c.966C>G (p.Pro322=) c.696C>G (p.Pro232=) | gnomAD v4 |
11 | g.123058750G>T | CA477385346 | HSPA8 | c.1404C>A (p.Pro468=) c.1387+17C>A (n.1387+17C>A) c.177C>A (p.Pro59=) c.1347C>A (p.Pro449=) c.60C>A (p.Pro20=) n.1379C>A c.966C>A (p.Pro322=) c.696C>A (p.Pro232=) | gnomAD v4 |
11 | g.123058751G>A | CA383057314 | HSPA8 | c.1403C>T (p.Pro468Leu) c.1387+16C>T (n.1387+16C>T) c.176C>T (p.Pro59Leu) c.1346C>T (p.Pro449Leu) c.59C>T (p.Pro20Leu) n.1378C>T c.965C>T (p.Pro322Leu) c.695C>T (p.Pro232Leu) | |
11 | g.123058751G>C | CA383057315 | HSPA8 | c.1403C>G (p.Pro468Arg) c.1387+16C>G (n.1387+16C>G) c.176C>G (p.Pro59Arg) c.1346C>G (p.Pro449Arg) c.59C>G (p.Pro20Arg) n.1378C>G c.965C>G (p.Pro322Arg) c.695C>G (p.Pro232Arg) | |
11 | g.123058751G>T | CA383057316 | HSPA8 | c.1403C>A (p.Pro468His) c.1387+16C>A (n.1387+16C>A) c.176C>A (p.Pro59His) c.1346C>A (p.Pro449His) c.59C>A (p.Pro20His) n.1378C>A c.965C>A (p.Pro322His) c.695C>A (p.Pro232His) | |
11 | g.123058752G>A | CA383057317 | HSPA8 | c.1402C>T (p.Pro468Ser) c.1387+15C>T (n.1387+15C>T) c.175C>T (p.Pro59Ser) c.1345C>T (p.Pro449Ser) c.58C>T (p.Pro20Ser) n.1377C>T c.964C>T (p.Pro322Ser) c.694C>T (p.Pro232Ser) | |
11 | g.123058752G>C | CA383057318 | HSPA8 | c.1402C>G (p.Pro468Ala) c.1387+15C>G (n.1387+15C>G) c.175C>G (p.Pro59Ala) c.1345C>G (p.Pro449Ala) c.58C>G (p.Pro20Ala) n.1377C>G c.964C>G (p.Pro322Ala) c.694C>G (p.Pro232Ala) | |
11 | g.123058752G>T | CA383057319 | HSPA8 | c.1402C>A (p.Pro468Thr) c.1387+15C>A (n.1387+15C>A) c.175C>A (p.Pro59Thr) c.1345C>A (p.Pro449Thr) c.58C>A (p.Pro20Thr) n.1377C>A c.964C>A (p.Pro322Thr) c.694C>A (p.Pro232Thr) | |
11 | g.123058753T>A | CA477385348 | HSPA8 | c.1401A>T (p.Ala467=) c.1387+14A>T (n.1387+14A>T) c.174A>T (p.Ala58=) c.1344A>T (p.Ala448=) c.57A>T (p.Ala19=) n.1376A>T c.963A>T (p.Ala321=) c.693A>T (p.Ala231=) | |
11 | g.123058753T>C | CA477385349 | HSPA8 | c.1401A>G (p.Ala467=) c.1387+14A>G (n.1387+14A>G) c.174A>G (p.Ala58=) c.1344A>G (p.Ala448=) c.57A>G (p.Ala19=) n.1376A>G c.963A>G (p.Ala321=) c.693A>G (p.Ala231=) | gnomAD v4 |
11 | g.123058753T>G | CA477385350 | HSPA8 | c.1401A>C (p.Ala467=) c.1387+14A>C (n.1387+14A>C) c.174A>C (p.Ala58=) c.1344A>C (p.Ala448=) c.57A>C (p.Ala19=) n.1376A>C c.963A>C (p.Ala321=) c.693A>C (p.Ala231=) | |
11 | g.123058754G>A | CA383057320 | HSPA8 | c.1400C>T (p.Ala467Val) c.1387+13C>T (n.1387+13C>T) c.173C>T (p.Ala58Val) c.1343C>T (p.Ala448Val) c.56C>T (p.Ala19Val) n.1375C>T c.962C>T (p.Ala321Val) c.692C>T (p.Ala231Val) | |
11 | g.123058754G>C | CA383057321 | HSPA8 | c.1400C>G (p.Ala467Gly) c.1387+13C>G (n.1387+13C>G) c.173C>G (p.Ala58Gly) c.1343C>G (p.Ala448Gly) c.56C>G (p.Ala19Gly) n.1375C>G c.962C>G (p.Ala321Gly) c.692C>G (p.Ala231Gly) | |
11 | g.123058754G>T | CA383057322 | HSPA8 | c.1400C>A (p.Ala467Glu) c.1387+13C>A (n.1387+13C>A) c.173C>A (p.Ala58Glu) c.1343C>A (p.Ala448Glu) c.56C>A (p.Ala19Glu) n.1375C>A c.962C>A (p.Ala321Glu) c.692C>A (p.Ala231Glu) | |
11 | g.123058755C>A | CA383057323 | HSPA8 | c.1399G>T (p.Ala467Ser) c.1387+12G>T (n.1387+12G>T) c.172G>T (p.Ala58Ser) c.1342G>T (p.Ala448Ser) c.55G>T (p.Ala19Ser) n.1374G>T c.961G>T (p.Ala321Ser) c.691G>T (p.Ala231Ser) | |
11 | g.123058755C>G | CA383057324 | HSPA8 | c.1399G>C (p.Ala467Pro) c.1387+12G>C (n.1387+12G>C) c.172G>C (p.Ala58Pro) c.1342G>C (p.Ala448Pro) c.55G>C (p.Ala19Pro) n.1374G>C c.961G>C (p.Ala321Pro) c.691G>C (p.Ala231Pro) | |
11 | g.123058755C>T | CA383057325 | HSPA8 | c.1399G>A (p.Ala467Thr) c.1387+12G>A (n.1387+12G>A) c.172G>A (p.Ala58Thr) c.1342G>A (p.Ala448Thr) c.55G>A (p.Ala19Thr) n.1374G>A c.961G>A (p.Ala321Thr) c.691G>A (p.Ala231Thr) | |
11 | g.123058756A= | CA2005595523 | HSPA8 | c.1398T= (p.Pro466=) c.1387+11T= (n.1387+11T=) c.171T= (p.Pro57=) c.1341T= (p.Pro447=) c.54T= (p.Pro18=) n.1373T= c.960T= (p.Pro320=) c.690T= (p.Pro230=) | |
11 | g.123058756A>C | CA6332476 | HSPA8 | c.1398T>G (p.Pro466=) c.1387+11T>G (n.1387+11T>G) c.171T>G (p.Pro57=) c.1341T>G (p.Pro447=) c.54T>G (p.Pro18=) n.1373T>G c.960T>G (p.Pro320=) c.690T>G (p.Pro230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058756A>G | CA477385351 | HSPA8 | c.1398T>C (p.Pro466=) c.1387+11T>C (n.1387+11T>C) c.171T>C (p.Pro57=) c.1341T>C (p.Pro447=) c.54T>C (p.Pro18=) n.1373T>C c.960T>C (p.Pro320=) c.690T>C (p.Pro230=) | gnomAD v4 |
11 | g.123058756A>T | CA477385352 | HSPA8 | c.1398T>A (p.Pro466=) c.1387+11T>A (n.1387+11T>A) c.171T>A (p.Pro57=) c.1341T>A (p.Pro447=) c.54T>A (p.Pro18=) n.1373T>A c.960T>A (p.Pro320=) c.690T>A (p.Pro230=) | |
11 | g.123058757G>A | CA6332477 | HSPA8 | c.1397C>T (p.Pro466Leu) c.1387+10C>T (n.1387+10C>T) c.170C>T (p.Pro57Leu) c.1340C>T (p.Pro447Leu) c.53C>T (p.Pro18Leu) n.1372C>T c.959C>T (p.Pro320Leu) c.689C>T (p.Pro230Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058757G>C | CA383057326 | HSPA8 | c.1397C>G (p.Pro466Arg) c.1387+10C>G (n.1387+10C>G) c.170C>G (p.Pro57Arg) c.1340C>G (p.Pro447Arg) c.53C>G (p.Pro18Arg) n.1372C>G c.959C>G (p.Pro320Arg) c.689C>G (p.Pro230Arg) | gnomAD v4 |
11 | g.123058757G= | CA2005595530 | HSPA8 | c.1397C= (p.Pro466=) c.1387+10C= (n.1387+10C=) c.170C= (p.Pro57=) c.1340C= (p.Pro447=) c.53C= (p.Pro18=) n.1372C= c.959C= (p.Pro320=) c.689C= (p.Pro230=) | |
11 | g.123058757G>T | CA383057327 | HSPA8 | c.1397C>A (p.Pro466His) c.1387+10C>A (n.1387+10C>A) c.170C>A (p.Pro57His) c.1340C>A (p.Pro447His) c.53C>A (p.Pro18His) n.1372C>A c.959C>A (p.Pro320His) c.689C>A (p.Pro230His) | |
11 | g.123058758G>A | CA383057328 | HSPA8 | c.1396C>T (p.Pro466Ser) c.1387+9C>T (n.1387+9C>T) c.169C>T (p.Pro57Ser) c.1339C>T (p.Pro447Ser) c.52C>T (p.Pro18Ser) n.1371C>T c.958C>T (p.Pro320Ser) c.688C>T (p.Pro230Ser) | dbSNP gnomAD v4 |
11 | g.123058758G>C | CA229966870 | HSPA8 | c.1396C>G (p.Pro466Ala) c.1387+9C>G (n.1387+9C>G) c.169C>G (p.Pro57Ala) c.1339C>G (p.Pro447Ala) c.52C>G (p.Pro18Ala) n.1371C>G c.958C>G (p.Pro320Ala) c.688C>G (p.Pro230Ala) | dbSNP |
11 | g.123058758G= | CA2005595536 | HSPA8 | c.1396C= (p.Pro466=) c.1387+9C= (n.1387+9C=) c.169C= (p.Pro57=) c.1339C= (p.Pro447=) c.52C= (p.Pro18=) n.1371C= c.958C= (p.Pro320=) c.688C= (p.Pro230=) | |
11 | g.123058758G>T | CA383057329 | HSPA8 | c.1396C>A (p.Pro466Thr) c.1387+9C>A (n.1387+9C>A) c.169C>A (p.Pro57Thr) c.1339C>A (p.Pro447Thr) c.52C>A (p.Pro18Thr) n.1371C>A c.958C>A (p.Pro320Thr) c.688C>A (p.Pro230Thr) | |
11 | g.123058759A>C | CA477385355 | HSPA8 | c.1395T>G (p.Pro465=) c.1387+8T>G (n.1387+8T>G) c.168T>G (p.Pro56=) c.1338T>G (p.Pro446=) c.51T>G (p.Pro17=) n.1370T>G c.957T>G (p.Pro319=) c.687T>G (p.Pro229=) | |
11 | g.123058759A>G | CA477385354 | HSPA8 | c.1395T>C (p.Pro465=) c.1387+8T>C (n.1387+8T>C) c.168T>C (p.Pro56=) c.1338T>C (p.Pro446=) c.51T>C (p.Pro17=) n.1370T>C c.957T>C (p.Pro319=) c.687T>C (p.Pro229=) | |
11 | g.123058759A>T | CA477385353 | HSPA8 | c.1395T>A (p.Pro465=) c.1387+8T>A (n.1387+8T>A) c.168T>A (p.Pro56=) c.1338T>A (p.Pro446=) c.51T>A (p.Pro17=) n.1370T>A c.957T>A (p.Pro319=) c.687T>A (p.Pro229=) | |
11 | g.123058760G>A | CA383057330 | HSPA8 | c.1394C>T (p.Pro465Leu) c.1387+7C>T (n.1387+7C>T) c.167C>T (p.Pro56Leu) c.1337C>T (p.Pro446Leu) c.50C>T (p.Pro17Leu) n.1369C>T c.956C>T (p.Pro319Leu) c.686C>T (p.Pro229Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058760G>C | CA383057331 | HSPA8 | c.1394C>G (p.Pro465Arg) c.1387+7C>G (n.1387+7C>G) c.167C>G (p.Pro56Arg) c.1337C>G (p.Pro446Arg) c.50C>G (p.Pro17Arg) n.1369C>G c.956C>G (p.Pro319Arg) c.686C>G (p.Pro229Arg) | |
11 | g.123058760G= | CA2005595544 | HSPA8 | c.1394C= (p.Pro465=) c.1387+7C= (n.1387+7C=) c.167C= (p.Pro56=) c.1337C= (p.Pro446=) c.50C= (p.Pro17=) n.1369C= c.956C= (p.Pro319=) c.686C= (p.Pro229=) | |
11 | g.123058760G>T | CA383057332 | HSPA8 | c.1394C>A (p.Pro465His) c.1387+7C>A (n.1387+7C>A) c.167C>A (p.Pro56His) c.1337C>A (p.Pro446His) c.50C>A (p.Pro17His) n.1369C>A c.956C>A (p.Pro319His) c.686C>A (p.Pro229His) | |
11 | g.123058761G>A | CA383057333 | HSPA8 | c.1393C>T (p.Pro465Ser) c.1387+6C>T (n.1387+6C>T) c.166C>T (p.Pro56Ser) c.1336C>T (p.Pro446Ser) c.49C>T (p.Pro17Ser) n.1368C>T c.955C>T (p.Pro319Ser) c.685C>T (p.Pro229Ser) | |
11 | g.123058761G>C | CA383057334 | HSPA8 | c.1393C>G (p.Pro465Ala) c.1387+6C>G (n.1387+6C>G) c.166C>G (p.Pro56Ala) c.1336C>G (p.Pro446Ala) c.49C>G (p.Pro17Ala) n.1368C>G c.955C>G (p.Pro319Ala) c.685C>G (p.Pro229Ala) | |
11 | g.123058761G>T | CA383057335 | HSPA8 | c.1393C>A (p.Pro465Thr) c.1387+6C>A (n.1387+6C>A) c.166C>A (p.Pro56Thr) c.1336C>A (p.Pro446Thr) c.49C>A (p.Pro17Thr) n.1368C>A c.955C>A (p.Pro319Thr) c.685C>A (p.Pro229Thr) | |
11 | g.123058762T>A | CA477385356 | HSPA8 | c.1392A>T (p.Ile464=) c.1387+5A>T (n.1387+5A>T) c.165A>T (p.Ile55=) c.1335A>T (p.Ile445=) c.48A>T (p.Ile16=) n.1367A>T c.954A>T (p.Ile318=) c.684A>T (p.Ile228=) | |
11 | g.123058762T>C | CA383057336 | HSPA8 | c.1392A>G (p.Ile464Met) c.1387+5A>G (n.1387+5A>G) c.165A>G (p.Ile55Met) c.1335A>G (p.Ile445Met) c.48A>G (p.Ile16Met) n.1367A>G c.954A>G (p.Ile318Met) c.684A>G (p.Ile228Met) | COSMIC |
11 | g.123058762T>G | CA477385357 | HSPA8 | c.1392A>C (p.Ile464=) c.1387+5A>C (n.1387+5A>C) c.165A>C (p.Ile55=) c.1335A>C (p.Ile445=) c.48A>C (p.Ile16=) n.1367A>C c.954A>C (p.Ile318=) c.684A>C (p.Ile228=) | |
11 | g.123058763A>C | CA383057338 | HSPA8 | c.1391T>G (p.Ile464Arg) c.1387+4T>G (n.1387+4T>G) c.164T>G (p.Ile55Arg) c.1334T>G (p.Ile445Arg) c.47T>G (p.Ile16Arg) n.1366T>G c.953T>G (p.Ile318Arg) c.683T>G (p.Ile228Arg) | |
11 | g.123058763A>G | CA383057339 | HSPA8 | c.1391T>C (p.Ile464Thr) c.1387+4T>C (n.1387+4T>C) c.164T>C (p.Ile55Thr) c.1334T>C (p.Ile445Thr) c.47T>C (p.Ile16Thr) n.1366T>C c.953T>C (p.Ile318Thr) c.683T>C (p.Ile228Thr) | |
11 | g.123058763A>T | CA383057337 | HSPA8 | c.1391T>A (p.Ile464Lys) c.1387+4T>A (n.1387+4T>A) c.164T>A (p.Ile55Lys) c.1334T>A (p.Ile445Lys) c.47T>A (p.Ile16Lys) n.1366T>A c.953T>A (p.Ile318Lys) c.683T>A (p.Ile228Lys) | |
11 | g.123058764T>A | CA229966875 | HSPA8 | c.1390A>T (p.Ile464Leu) c.1387+3A>T (n.1387+3A>T) c.163A>T (p.Ile55Leu) c.1333A>T (p.Ile445Leu) c.46A>T (p.Ile16Leu) n.1365A>T c.952A>T (p.Ile318Leu) c.682A>T (p.Ile228Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058764T>C | CA383057340 | HSPA8 | c.1390A>G (p.Ile464Val) c.1387+3A>G (n.1387+3A>G) c.163A>G (p.Ile55Val) c.1333A>G (p.Ile445Val) c.46A>G (p.Ile16Val) n.1365A>G c.952A>G (p.Ile318Val) c.682A>G (p.Ile228Val) | |
11 | g.123058764T>G | CA383057341 | HSPA8 | c.1390A>C (p.Ile464Leu) c.1387+3A>C (n.1387+3A>C) c.163A>C (p.Ile55Leu) c.1333A>C (p.Ile445Leu) c.46A>C (p.Ile16Leu) n.1365A>C c.952A>C (p.Ile318Leu) c.682A>C (p.Ile228Leu) | |
11 | g.123058764T= | CA2005595551 | HSPA8 | c.1390A= (p.Ile464=) c.1387+3A= (n.1387+3A=) c.163A= (p.Ile55=) c.1333A= (p.Ile445=) c.46A= (p.Ile16=) n.1365A= c.952A= (p.Ile318=) c.682A= (p.Ile228=) | |
11 | g.123058765G>A | CA383057342 | HSPA8 | c.1389C>T (p.Gly463=) c.1387+2C>T (n.1387+2C>T) c.162C>T (p.Gly54=) c.1332C>T (p.Gly444=) c.45C>T (p.Gly15=) n.1364C>T c.951C>T (p.Gly317=) c.681C>T (p.Gly227=) | |
11 | g.123058765G>C | CA383057343 | HSPA8 | c.1389C>G (p.Gly463=) c.1387+2C>G (n.1387+2C>G) c.162C>G (p.Gly54=) c.1332C>G (p.Gly444=) c.45C>G (p.Gly15=) n.1364C>G c.951C>G (p.Gly317=) c.681C>G (p.Gly227=) | |
11 | g.123058765G>T | CA383057344 | HSPA8 | c.1389C>A (p.Gly463=) c.1387+2C>A (n.1387+2C>A) c.162C>A (p.Gly54=) c.1332C>A (p.Gly444=) c.45C>A (p.Gly15=) n.1364C>A c.951C>A (p.Gly317=) c.681C>A (p.Gly227=) | |
11 | g.123058766C>A | CA383057345 | HSPA8 | c.1388G>T (p.Gly463Val) c.1387+1G>T (n.1387+1G>T) c.161G>T (p.Gly54Val) c.1331G>T (p.Gly444Val) c.44G>T (p.Gly15Val) n.1363G>T c.950G>T (p.Gly317Val) c.680G>T (p.Gly227Val) | dbSNP |
11 | g.123058766C= | CA2005595555 | HSPA8 | c.1388G= (p.Gly463=) c.1387+1G= (n.1387+1G=) c.161G= (p.Gly54=) c.1331G= (p.Gly444=) c.44G= (p.Gly15=) n.1363G= c.950G= (p.Gly317=) c.680G= (p.Gly227=) | |
11 | g.123058766C>G | CA383057346 | HSPA8 | c.1388G>C (p.Gly463Ala) c.1387+1G>C (n.1387+1G>C) c.161G>C (p.Gly54Ala) c.1331G>C (p.Gly444Ala) c.44G>C (p.Gly15Ala) n.1363G>C c.950G>C (p.Gly317Ala) c.680G>C (p.Gly227Ala) | |
11 | g.123058766C>T | CA383057347 | HSPA8 | c.1388G>A (p.Gly463Asp) c.1387+1G>A (n.1387+1G>A) c.161G>A (p.Gly54Asp) c.1331G>A (p.Gly444Asp) c.44G>A (p.Gly15Asp) n.1363G>A c.950G>A (p.Gly317Asp) c.680G>A (p.Gly227Asp) | gnomAD v4 |
11 | g.123058766_123058767insTATGGTTATCAGAAGCTCTTGTTCTTTCACCTTGTAAAACATTTATAGTAACAG | CA2505798357 | HSPA8 | c.1387_1388insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly463delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) c.1387_1387+1insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (n.1387_1387+1insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA) c.160_161insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly54delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) c.1330_1331insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly444delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) c.43_44insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly15delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) n.1362_1363insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA c.949_950insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly317delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) c.679_680insCTGTTACTATAAATGTTTTACAAGGTGAAAGAACAAGAGCTTCTGATAACCATA (p.Gly227delinsAlaValThrIleAsnValLeuGlnGlyGluArgThrArgAlaSerAspAsnHisSer) | |
11 | g.123058767C>A | CA383057348 | HSPA8 | c.1387G>T (p.Gly463Cys) c.160G>T (p.Gly54Cys) c.1330G>T (p.Gly444Cys) c.43G>T (p.Gly15Cys) n.1362G>T c.949G>T (p.Gly317Cys) c.679G>T (p.Gly227Cys) | |
11 | g.123058767C>G | CA383057349 | HSPA8 | c.1387G>C (p.Gly463Arg) c.160G>C (p.Gly54Arg) c.1330G>C (p.Gly444Arg) c.43G>C (p.Gly15Arg) n.1362G>C c.949G>C (p.Gly317Arg) c.679G>C (p.Gly227Arg) | |
11 | g.123058767C>T | CA383057350 | HSPA8 | c.1387G>A (p.Gly463Ser) c.160G>A (p.Gly54Ser) c.1330G>A (p.Gly444Ser) c.43G>A (p.Gly15Ser) n.1362G>A c.949G>A (p.Gly317Ser) c.679G>A (p.Gly227Ser) | |
11 | g.123058767_123058769delinsCTG | CA2005595564 | HSPA8 | c.1385_1387delinsCAG (p.Thr462=) c.158_160delinsCAG (p.Thr53=) c.1328_1330delinsCAG (p.Thr443=) c.41_43delinsCAG (p.Thr14=) n.1360_1362delinsCAG c.947_949delinsCAG (p.Thr316=) c.677_679delinsCAG (p.Thr226=) | |
11 | g.123058768T>A | CA477385358 | HSPA8 | c.1386A>T (p.Thr462=) c.159A>T (p.Thr53=) c.1329A>T (p.Thr443=) c.42A>T (p.Thr14=) n.1361A>T c.948A>T (p.Thr316=) c.678A>T (p.Thr226=) | |
11 | g.123058768T>C | CA477385359 | HSPA8 | c.1386A>G (p.Thr462=) c.159A>G (p.Thr53=) c.1329A>G (p.Thr443=) c.42A>G (p.Thr14=) n.1361A>G c.948A>G (p.Thr316=) c.678A>G (p.Thr226=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058768T>G | CA477385360 | HSPA8 | c.1386A>C (p.Thr462=) c.159A>C (p.Thr53=) c.1329A>C (p.Thr443=) c.42A>C (p.Thr14=) n.1361A>C c.948A>C (p.Thr316=) c.678A>C (p.Thr226=) | |
11 | g.123058768T= | CA2005595573 | HSPA8 | c.1386A= (p.Thr462=) c.159A= (p.Thr53=) c.1329A= (p.Thr443=) c.42A= (p.Thr14=) n.1361A= c.948A= (p.Thr316=) c.678A= (p.Thr226=) | |
11 | g.123058770_123058771del | CA602581180 | HSPA8 | c.1385_1386del (p.Thr462ArgfsTer13) c.1385_1386del (p.Thr462ArgfsTer28) c.158_159del (p.Thr53ArgfsTer13) c.1328_1329del (p.Thr443ArgfsTer13) c.41_42del (p.Thr14ArgfsTer13) n.1360_1361del c.947_948del (p.Thr316ArgfsTer13) c.677_678del (p.Thr226ArgfsTer13) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.123058769G>A | CA383057352 | HSPA8 | c.1385C>T (p.Thr462Ile) c.158C>T (p.Thr53Ile) c.1328C>T (p.Thr443Ile) c.41C>T (p.Thr14Ile) n.1360C>T c.947C>T (p.Thr316Ile) c.677C>T (p.Thr226Ile) | |
11 | g.123058769G>C | CA383057353 | HSPA8 | c.1385C>G (p.Thr462Arg) c.158C>G (p.Thr53Arg) c.1328C>G (p.Thr443Arg) c.41C>G (p.Thr14Arg) n.1360C>G c.947C>G (p.Thr316Arg) c.677C>G (p.Thr226Arg) | |
11 | g.123058769G>T | CA383057351 | HSPA8 | c.1385C>A (p.Thr462Lys) c.158C>A (p.Thr53Lys) c.1328C>A (p.Thr443Lys) c.41C>A (p.Thr14Lys) n.1360C>A c.947C>A (p.Thr316Lys) c.677C>A (p.Thr226Lys) | gnomAD v4 |
11 | g.123058770T>A | CA383057354 | HSPA8 | c.1384A>T (p.Thr462Ser) c.157A>T (p.Thr53Ser) c.1327A>T (p.Thr443Ser) c.40A>T (p.Thr14Ser) n.1359A>T c.946A>T (p.Thr316Ser) c.676A>T (p.Thr226Ser) | |
11 | g.123058770T>C | CA6332478 | HSPA8 | c.1384A>G (p.Thr462Ala) c.157A>G (p.Thr53Ala) c.1327A>G (p.Thr443Ala) c.40A>G (p.Thr14Ala) n.1359A>G c.946A>G (p.Thr316Ala) c.676A>G (p.Thr226Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.123058770T>G | CA383057355 | HSPA8 | c.1384A>C (p.Thr462Pro) c.157A>C (p.Thr53Pro) c.1327A>C (p.Thr443Pro) c.40A>C (p.Thr14Pro) n.1359A>C c.946A>C (p.Thr316Pro) c.676A>C (p.Thr226Pro) | |
11 | g.123058770T= | CA2005595595 | HSPA8 | c.1384A= (p.Thr462=) c.157A= (p.Thr53=) c.1327A= (p.Thr443=) c.40A= (p.Thr14=) n.1359A= c.946A= (p.Thr316=) c.676A= (p.Thr226=) | |
11 | g.123058771G>A | CA477385361 | HSPA8 | c.1383C>T (p.Leu461=) c.156C>T (p.Leu52=) c.1326C>T (p.Leu442=) c.39C>T (p.Leu13=) n.1358C>T c.945C>T (p.Leu315=) c.675C>T (p.Leu225=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.123058771G>C | CA477385362 | HSPA8 | c.1383C>G (p.Leu461=) c.156C>G (p.Leu52=) c.1326C>G (p.Leu442=) c.39C>G (p.Leu13=) n.1358C>G c.945C>G (p.Leu315=) c.675C>G (p.Leu225=) | |
11 | g.123058771G= | CA2005595598 | HSPA8 | c.1383C= (p.Leu461=) c.156C= (p.Leu52=) c.1326C= (p.Leu442=) c.39C= (p.Leu13=) n.1358C= c.945C= (p.Leu315=) c.675C= (p.Leu225=) | |
11 | g.123058771G>T | CA477385363 | HSPA8 | c.1383C>A (p.Leu461=) c.156C>A (p.Leu52=) c.1326C>A (p.Leu442=) c.39C>A (p.Leu13=) n.1358C>A c.945C>A (p.Leu315=) c.675C>A (p.Leu225=) | |
11 | g.123058771_123058773dup | CA2616532796 | HSPA8 | c.1381_1383dup (p.Leu461_Thr462insLeu) c.154_156dup (p.Leu52_Thr53insLeu) c.1324_1326dup (p.Leu442_Thr443insLeu) c.37_39dup (p.Leu13_Thr14insLeu) n.1356_1358dup c.943_945dup (p.Leu315_Thr316insLeu) c.673_675dup (p.Leu225_Thr226insLeu) | gnomAD v4 |
11 | g.123058772A>C | CA383057356 | HSPA8 | c.1382T>G (p.Leu461Arg) c.155T>G (p.Leu52Arg) c.1325T>G (p.Leu442Arg) c.38T>G (p.Leu13Arg) n.1357T>G c.944T>G (p.Leu315Arg) c.674T>G (p.Leu225Arg) | |
11 | g.123058772A>G | CA383057357 | HSPA8 | c.1382T>C (p.Leu461Pro) c.155T>C (p.Leu52Pro) c.1325T>C (p.Leu442Pro) c.38T>C (p.Leu13Pro) n.1357T>C c.944T>C (p.Leu315Pro) c.674T>C (p.Leu225Pro) | |
11 | g.123058772A>T | CA383057358 | HSPA8 | c.1382T>A (p.Leu461His) c.155T>A (p.Leu52His) c.1325T>A (p.Leu442His) c.38T>A (p.Leu13His) n.1357T>A c.944T>A (p.Leu315His) c.674T>A (p.Leu225His) | |
11 | g.123058773G>A | CA383057361 | HSPA8 | c.1381C>T (p.Leu461Phe) c.154C>T (p.Leu52Phe) c.1324C>T (p.Leu442Phe) c.37C>T (p.Leu13Phe) n.1356C>T c.943C>T (p.Leu315Phe) c.673C>T (p.Leu225Phe) | |
11 | g.123058773G>C | CA383057359 | HSPA8 | c.1381C>G (p.Leu461Val) c.154C>G (p.Leu52Val) c.1324C>G (p.Leu442Val) c.37C>G (p.Leu13Val) n.1356C>G c.943C>G (p.Leu315Val) c.673C>G (p.Leu225Val) | |
11 | g.123058773G>T | CA383057360 | HSPA8 | c.1381C>A (p.Leu461Ile) c.154C>A (p.Leu52Ile) c.1324C>A (p.Leu442Ile) c.37C>A (p.Leu13Ile) n.1356C>A c.943C>A (p.Leu315Ile) c.673C>A (p.Leu225Ile) | |
11 | g.123058774T>A | CA383057362 | HSPA8 | c.1380A>T (p.Glu460Asp) c.153A>T (p.Glu51Asp) c.1323A>T (p.Glu441Asp) c.36A>T (p.Glu12Asp) n.1355A>T c.942A>T (p.Glu314Asp) c.672A>T (p.Glu224Asp) | |
11 | g.123058774T>C | CA477385364 | HSPA8 | c.1380A>G (p.Glu460=) c.153A>G (p.Glu51=) c.1323A>G (p.Glu441=) c.36A>G (p.Glu12=) n.1355A>G c.942A>G (p.Glu314=) c.672A>G (p.Glu224=) | |
11 | g.123058774T>G | CA383057363 | HSPA8 | c.1380A>C (p.Glu460Asp) c.153A>C (p.Glu51Asp) c.1323A>C (p.Glu441Asp) c.36A>C (p.Glu12Asp) n.1355A>C c.942A>C (p.Glu314Asp) c.672A>C (p.Glu224Asp) | |
11 | g.123058775T>A | CA383057364 | HSPA8 | c.1379A>T (p.Glu460Val) c.152A>T (p.Glu51Val) c.1322A>T (p.Glu441Val) c.35A>T (p.Glu12Val) n.1354A>T c.941A>T (p.Glu314Val) c.671A>T (p.Glu224Val) | |
11 | g.123058775T>C | CA383057365 | HSPA8 | c.1379A>G (p.Glu460Gly) c.152A>G (p.Glu51Gly) c.1322A>G (p.Glu441Gly) c.35A>G (p.Glu12Gly) n.1354A>G c.941A>G (p.Glu314Gly) c.671A>G (p.Glu224Gly) | |
11 | g.123058775T>G | CA383057366 | HSPA8 | c.1379A>C (p.Glu460Ala) c.152A>C (p.Glu51Ala) c.1322A>C (p.Glu441Ala) c.35A>C (p.Glu12Ala) n.1354A>C c.941A>C (p.Glu314Ala) c.671A>C (p.Glu224Ala) | |
11 | g.123058776C>A | CA383057369 | HSPA8 | c.1378G>T (p.Glu460Ter) c.151G>T (p.Glu51Ter) c.1321G>T (p.Glu441Ter) c.34G>T (p.Glu12Ter) n.1353G>T c.940G>T (p.Glu314Ter) c.670G>T (p.Glu224Ter) | |
11 | g.123058776C>G | CA383057368 | HSPA8 | c.1378G>C (p.Glu460Gln) c.151G>C (p.Glu51Gln) c.1321G>C (p.Glu441Gln) c.34G>C (p.Glu12Gln) n.1353G>C c.940G>C (p.Glu314Gln) c.670G>C (p.Glu224Gln) | |
11 | g.123058776C>T | CA383057367 | HSPA8 | c.1378G>A (p.Glu460Lys) c.151G>A (p.Glu51Lys) c.1321G>A (p.Glu441Lys) c.34G>A (p.Glu12Lys) n.1353G>A c.940G>A (p.Glu314Lys) c.670G>A (p.Glu224Lys) | |
11 | g.123058777A>C | CA383057370 | HSPA8 | c.1377T>G (p.Phe459Leu) c.150T>G (p.Phe50Leu) c.1320T>G (p.Phe440Leu) c.33T>G (p.Phe11Leu) n.1352T>G c.939T>G (p.Phe313Leu) c.669T>G (p.Phe223Leu) | |
11 | g.123058777A>G | CA477385365 | HSPA8 | c.1377T>C (p.Phe459=) c.150T>C (p.Phe50=) c.1320T>C (p.Phe440=) c.33T>C (p.Phe11=) n.1352T>C c.939T>C (p.Phe313=) c.669T>C (p.Phe223=) | |
11 | g.123058777A>T | CA383057371 | HSPA8 | c.1377T>A (p.Phe459Leu) c.150T>A (p.Phe50Leu) c.1320T>A (p.Phe440Leu) c.33T>A (p.Phe11Leu) n.1352T>A c.939T>A (p.Phe313Leu) c.669T>A (p.Phe223Leu) | |
11 | g.123058778A>C | CA383057372 | HSPA8 | c.1376T>G (p.Phe459Cys) c.149T>G (p.Phe50Cys) c.1319T>G (p.Phe440Cys) c.32T>G (p.Phe11Cys) n.1351T>G c.938T>G (p.Phe313Cys) c.668T>G (p.Phe223Cys) | |
11 | g.123058778A>G | CA383057374 | HSPA8 | c.1376T>C (p.Phe459Ser) c.149T>C (p.Phe50Ser) c.1319T>C (p.Phe440Ser) c.32T>C (p.Phe11Ser) n.1351T>C c.938T>C (p.Phe313Ser) c.668T>C (p.Phe223Ser) | |
11 | g.123058778A>T | CA383057373 | HSPA8 | c.1376T>A (p.Phe459Tyr) c.149T>A (p.Phe50Tyr) c.1319T>A (p.Phe440Tyr) c.32T>A (p.Phe11Tyr) n.1351T>A c.938T>A (p.Phe313Tyr) c.668T>A (p.Phe223Tyr) | |
11 | g.123058779A= | CA2005595603 | HSPA8 | c.1375T= (p.Phe459=) c.148T= (p.Phe50=) c.1318T= (p.Phe440=) c.31T= (p.Phe11=) n.1350T= c.937T= (p.Phe313=) c.667T= (p.Phe223=) | |
11 | g.123058779A>C | CA383057375 | HSPA8 | c.1375T>G (p.Phe459Val) c.148T>G (p.Phe50Val) c.1318T>G (p.Phe440Val) c.31T>G (p.Phe11Val) n.1350T>G c.937T>G (p.Phe313Val) c.667T>G (p.Phe223Val) | |
11 | g.123058779A>G | CA229966880 | HSPA8 | c.1375T>C (p.Phe459Leu) c.148T>C (p.Phe50Leu) c.1318T>C (p.Phe440Leu) c.31T>C (p.Phe11Leu) n.1350T>C c.937T>C (p.Phe313Leu) c.667T>C (p.Phe223Leu) | dbSNP |
11 | g.123058779A>T | CA383057376 | HSPA8 | c.1375T>A (p.Phe459Ile) c.148T>A (p.Phe50Ile) c.1318T>A (p.Phe440Ile) c.31T>A (p.Phe11Ile) n.1350T>A c.937T>A (p.Phe313Ile) c.667T>A (p.Phe223Ile) | |
11 | g.123058780C>A | CA383057377 | HSPA8 | c.1374G>T (p.Lys458Asn) c.147G>T (p.Lys49Asn) c.1317G>T (p.Lys439Asn) c.30G>T (p.Lys10Asn) n.1349G>T c.936G>T (p.Lys312Asn) c.666G>T (p.Lys222Asn) | |
11 | g.123058780C>G | CA383057378 | HSPA8 | c.1374G>C (p.Lys458Asn) c.147G>C (p.Lys49Asn) c.1317G>C (p.Lys439Asn) c.30G>C (p.Lys10Asn) n.1349G>C c.936G>C (p.Lys312Asn) c.666G>C (p.Lys222Asn) | |
11 | g.123058780C>T | CA477385366 | HSPA8 | c.1374G>A (p.Lys458=) c.147G>A (p.Lys49=) c.1317G>A (p.Lys439=) c.30G>A (p.Lys10=) n.1349G>A c.936G>A (p.Lys312=) c.666G>A (p.Lys222=) | gnomAD v4 |
11 | g.123058781T>A | CA383057379 | HSPA8 | c.1373A>T (p.Lys458Met) c.146A>T (p.Lys49Met) c.1316A>T (p.Lys439Met) c.29A>T (p.Lys10Met) n.1348A>T c.935A>T (p.Lys312Met) c.665A>T (p.Lys222Met) | |
11 | g.123058781T>C | CA383057380 | HSPA8 | c.1373A>G (p.Lys458Arg) c.146A>G (p.Lys49Arg) c.1316A>G (p.Lys439Arg) c.29A>G (p.Lys10Arg) n.1348A>G c.935A>G (p.Lys312Arg) c.665A>G (p.Lys222Arg) | COSMIC |
11 | g.123058781T>G | CA383057381 | HSPA8 | c.1373A>C (p.Lys458Thr) c.146A>C (p.Lys49Thr) c.1316A>C (p.Lys439Thr) c.29A>C (p.Lys10Thr) n.1348A>C c.935A>C (p.Lys312Thr) c.665A>C (p.Lys222Thr) | |
11 | g.123058782T>A | CA383057382 | HSPA8 | c.1372A>T (p.Lys458Ter) c.145A>T (p.Lys49Ter) c.1315A>T (p.Lys439Ter) c.28A>T (p.Lys10Ter) n.1347A>T c.934A>T (p.Lys312Ter) c.664A>T (p.Lys222Ter) | |
11 | g.123058782T>C | CA383057383 | HSPA8 | c.1372A>G (p.Lys458Glu) c.145A>G (p.Lys49Glu) c.1315A>G (p.Lys439Glu) c.28A>G (p.Lys10Glu) n.1347A>G c.934A>G (p.Lys312Glu) c.664A>G (p.Lys222Glu) | |
11 | g.123058782T>G | CA383057384 | HSPA8 | c.1372A>C (p.Lys458Gln) c.145A>C (p.Lys49Gln) c.1315A>C (p.Lys439Gln) c.28A>C (p.Lys10Gln) n.1347A>C c.934A>C (p.Lys312Gln) c.664A>C (p.Lys222Gln) | |
11 | g.123058783G>A | CA477385369 | HSPA8 | c.1371C>T (p.Gly457=) c.144C>T (p.Gly48=) c.1314C>T (p.Gly438=) c.27C>T (p.Gly9=) n.1346C>T c.933C>T (p.Gly311=) c.663C>T (p.Gly221=) | |
11 | g.123058783G>C | CA477385368 | HSPA8 | c.1371C>G (p.Gly457=) c.144C>G (p.Gly48=) c.1314C>G (p.Gly438=) c.27C>G (p.Gly9=) n.1346C>G c.933C>G (p.Gly311=) c.663C>G (p.Gly221=) | dbSNP gnomAD v4 |
11 | g.123058783G>T | CA477385367 | HSPA8 | c.1371C>A (p.Gly457=) c.144C>A (p.Gly48=) c.1314C>A (p.Gly438=) c.27C>A (p.Gly9=) n.1346C>A c.933C>A (p.Gly311=) c.663C>A (p.Gly221=) | |
11 | g.123058784C>A | CA383057385 | HSPA8 | c.1370G>T (p.Gly457Val) c.143G>T (p.Gly48Val) c.1313G>T (p.Gly438Val) c.26G>T (p.Gly9Val) n.1345G>T c.932G>T (p.Gly311Val) c.662G>T (p.Gly221Val) | |
11 | g.123058784C>G | CA383057386 | HSPA8 | c.1370G>C (p.Gly457Ala) c.143G>C (p.Gly48Ala) c.1313G>C (p.Gly438Ala) c.26G>C (p.Gly9Ala) n.1345G>C c.932G>C (p.Gly311Ala) c.662G>C (p.Gly221Ala) | |
11 | g.123058784C>T | CA383057387 | HSPA8 | c.1370G>A (p.Gly457Asp) c.143G>A (p.Gly48Asp) c.1313G>A (p.Gly438Asp) c.26G>A (p.Gly9Asp) n.1345G>A c.932G>A (p.Gly311Asp) c.662G>A (p.Gly221Asp) | |
11 | g.123058785C>A | CA383057390 | HSPA8 | c.1369G>T (p.Gly457Cys) c.142G>T (p.Gly48Cys) c.1312G>T (p.Gly438Cys) c.25G>T (p.Gly9Cys) n.1344G>T c.931G>T (p.Gly311Cys) c.661G>T (p.Gly221Cys) | |
11 | g.123058785C>G | CA383057388 | HSPA8 | c.1369G>C (p.Gly457Arg) c.142G>C (p.Gly48Arg) c.1312G>C (p.Gly438Arg) c.25G>C (p.Gly9Arg) n.1344G>C c.931G>C (p.Gly311Arg) c.661G>C (p.Gly221Arg) | |
11 | g.123058785C>T | CA383057389 | HSPA8 | c.1369G>A (p.Gly457Ser) c.142G>A (p.Gly48Ser) c.1312G>A (p.Gly438Ser) c.25G>A (p.Gly9Ser) n.1344G>A c.931G>A (p.Gly311Ser) c.661G>A (p.Gly221Ser) | |
11 | g.123058786A= | CA2005595610 | HSPA8 | c.1368T= (p.Leu456=) c.141T= (p.Leu47=) c.1311T= (p.Leu437=) c.24T= (p.Leu8=) n.1343T= c.930T= (p.Leu310=) c.660T= (p.Leu220=) | |
11 | g.123058786A>C | CA477385370 | HSPA8 | c.1368T>G (p.Leu456=) c.141T>G (p.Leu47=) c.1311T>G (p.Leu437=) c.24T>G (p.Leu8=) n.1343T>G c.930T>G (p.Leu310=) c.660T>G (p.Leu220=) | gnomAD v4 |
11 | g.123058786A>G | CA477385371 | HSPA8 | c.1368T>C (p.Leu456=) c.141T>C (p.Leu47=) c.1311T>C (p.Leu437=) c.24T>C (p.Leu8=) n.1343T>C c.930T>C (p.Leu310=) c.660T>C (p.Leu220=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058786A>T | CA6332479 | HSPA8 | c.1368T>A (p.Leu456=) c.141T>A (p.Leu47=) c.1311T>A (p.Leu437=) c.24T>A (p.Leu8=) n.1343T>A c.930T>A (p.Leu310=) c.660T>A (p.Leu220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.123058787A>C | CA383057391 | HSPA8 | c.1367T>G (p.Leu456Arg) c.140T>G (p.Leu47Arg) c.1310T>G (p.Leu437Arg) c.23T>G (p.Leu8Arg) n.1342T>G c.929T>G (p.Leu310Arg) c.659T>G (p.Leu220Arg) | |
11 | g.123058787A>G | CA383057392 | HSPA8 | c.1367T>C (p.Leu456Pro) c.140T>C (p.Leu47Pro) c.1310T>C (p.Leu437Pro) c.23T>C (p.Leu8Pro) n.1342T>C c.929T>C (p.Leu310Pro) c.659T>C (p.Leu220Pro) | |
11 | g.123058787A>T | CA383057393 | HSPA8 | c.1367T>A (p.Leu456His) c.140T>A (p.Leu47His) c.1310T>A (p.Leu437His) c.23T>A (p.Leu8His) n.1342T>A c.929T>A (p.Leu310His) c.659T>A (p.Leu220His) | |
11 | g.123058788G>A | CA383057394 | HSPA8 | c.1366C>T (p.Leu456Phe) c.139C>T (p.Leu47Phe) c.1309C>T (p.Leu437Phe) c.22C>T (p.Leu8Phe) n.1341C>T c.928C>T (p.Leu310Phe) c.658C>T (p.Leu220Phe) | |
11 | g.123058788G>C | CA383057395 | HSPA8 | c.1366C>G (p.Leu456Val) c.139C>G (p.Leu47Val) c.1309C>G (p.Leu437Val) c.22C>G (p.Leu8Val) n.1341C>G c.928C>G (p.Leu310Val) c.658C>G (p.Leu220Val) | |
11 | g.123058788G>T | CA383057396 | HSPA8 | c.1366C>A (p.Leu456Ile) c.139C>A (p.Leu47Ile) c.1309C>A (p.Leu437Ile) c.22C>A (p.Leu8Ile) n.1341C>A c.928C>A (p.Leu310Ile) c.658C>A (p.Leu220Ile) | |
11 | g.123058789C>A | CA477385372 | HSPA8 | c.1365G>T (p.Leu455=) c.138G>T (p.Leu46=) c.1308G>T (p.Leu436=) c.21G>T (p.Leu7=) n.1340G>T c.927G>T (p.Leu309=) c.657G>T (p.Leu219=) | |
11 | g.123058789C= | CA2005595623 | HSPA8 | c.1365G= (p.Leu455=) c.138G= (p.Leu46=) c.1308G= (p.Leu436=) c.21G= (p.Leu7=) n.1340G= c.927G= (p.Leu309=) c.657G= (p.Leu219=) | |
11 | g.123058789C>G | CA6332480 | HSPA8 | c.1365G>C (p.Leu455=) c.138G>C (p.Leu46=) c.1308G>C (p.Leu436=) c.21G>C (p.Leu7=) n.1340G>C c.927G>C (p.Leu309=) c.657G>C (p.Leu219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058789C>T | CA477385373 | HSPA8 | c.1365G>A (p.Leu455=) c.138G>A (p.Leu46=) c.1308G>A (p.Leu436=) c.21G>A (p.Leu7=) n.1340G>A c.927G>A (p.Leu309=) c.657G>A (p.Leu219=) | gnomAD v4 |
11 | g.123058790A>C | CA383057397 | HSPA8 | c.1364T>G (p.Leu455Arg) c.137T>G (p.Leu46Arg) c.1307T>G (p.Leu436Arg) c.20T>G (p.Leu7Arg) n.1339T>G c.926T>G (p.Leu309Arg) c.656T>G (p.Leu219Arg) | |
11 | g.123058790A>G | CA383057398 | HSPA8 | c.1364T>C (p.Leu455Pro) c.137T>C (p.Leu46Pro) c.1307T>C (p.Leu436Pro) c.20T>C (p.Leu7Pro) n.1339T>C c.926T>C (p.Leu309Pro) c.656T>C (p.Leu219Pro) | |
11 | g.123058790A>T | CA383057399 | HSPA8 | c.1364T>A (p.Leu455Gln) c.137T>A (p.Leu46Gln) c.1307T>A (p.Leu436Gln) c.20T>A (p.Leu7Gln) n.1339T>A c.926T>A (p.Leu309Gln) c.656T>A (p.Leu219Gln) | |
11 | g.123058791G>A | CA477385374 | HSPA8 | c.1363C>T (p.Leu455=) c.136C>T (p.Leu46=) c.1306C>T (p.Leu436=) c.19C>T (p.Leu7=) n.1338C>T n.465C>T c.925C>T (p.Leu309=) c.655C>T (p.Leu219=) | gnomAD v4 |
11 | g.123058791G>C | CA383057401 | HSPA8 | c.1363C>G (p.Leu455Val) c.136C>G (p.Leu46Val) c.1306C>G (p.Leu436Val) c.19C>G (p.Leu7Val) n.1338C>G n.465C>G c.925C>G (p.Leu309Val) c.655C>G (p.Leu219Val) | |
11 | g.123058791G>T | CA383057400 | HSPA8 | c.1363C>A (p.Leu455Met) c.136C>A (p.Leu46Met) c.1306C>A (p.Leu436Met) c.19C>A (p.Leu7Met) n.1338C>A n.465C>A c.925C>A (p.Leu309Met) c.655C>A (p.Leu219Met) | |
11 | g.123058792G>A | CA6332481 | HSPA8 | c.1362C>T (p.Asn454=) c.135C>T (p.Asn45=) c.1305C>T (p.Asn435=) c.18C>T (p.Asn6=) n.1337C>T n.464C>T c.924C>T (p.Asn308=) c.654C>T (p.Asn218=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.123058792G>C | CA383057402 | HSPA8 | c.1362C>G (p.Asn454Lys) c.135C>G (p.Asn45Lys) c.1305C>G (p.Asn435Lys) c.18C>G (p.Asn6Lys) n.1337C>G n.464C>G c.924C>G (p.Asn308Lys) c.654C>G (p.Asn218Lys) | |
11 | g.123058792G= | CA2005595630 | HSPA8 | c.1362C= (p.Asn454=) c.135C= (p.Asn45=) c.1305C= (p.Asn435=) c.18C= (p.Asn6=) n.1337C= n.464C= c.924C= (p.Asn308=) c.654C= (p.Asn218=) | |
11 | g.123058792G>T | CA383057403 | HSPA8 | c.1362C>A (p.Asn454Lys) c.135C>A (p.Asn45Lys) c.1305C>A (p.Asn435Lys) c.18C>A (p.Asn6Lys) n.1337C>A n.464C>A c.924C>A (p.Asn308Lys) c.654C>A (p.Asn218Lys) | |
11 | g.123058793T>A | CA383057404 | HSPA8 | c.1361A>T (p.Asn454Ile) c.134A>T (p.Asn45Ile) c.1304A>T (p.Asn435Ile) c.17A>T (p.Asn6Ile) n.1336A>T n.463A>T c.923A>T (p.Asn308Ile) c.653A>T (p.Asn218Ile) | |
11 | g.123058793T>C | CA383057405 | HSPA8 | c.1361A>G (p.Asn454Ser) c.134A>G (p.Asn45Ser) c.1304A>G (p.Asn435Ser) c.17A>G (p.Asn6Ser) n.1336A>G n.463A>G c.923A>G (p.Asn308Ser) c.653A>G (p.Asn218Ser) | COSMIC |
11 | g.123058793T>G | CA383057406 | HSPA8 | c.1361A>C (p.Asn454Thr) c.134A>C (p.Asn45Thr) c.1304A>C (p.Asn435Thr) c.17A>C (p.Asn6Thr) n.1336A>C n.463A>C c.923A>C (p.Asn308Thr) c.653A>C (p.Asn218Thr) | |
11 | g.123058794T>A | CA383057409 | HSPA8 | c.1360A>T (p.Asn454Tyr) c.133A>T (p.Asn45Tyr) c.1303A>T (p.Asn435Tyr) c.16A>T (p.Asn6Tyr) n.1335A>T n.462A>T c.922A>T (p.Asn308Tyr) c.652A>T (p.Asn218Tyr) | |
11 | g.123058794T>C | CA383057407 | HSPA8 | c.1360A>G (p.Asn454Asp) c.133A>G (p.Asn45Asp) c.1303A>G (p.Asn435Asp) c.16A>G (p.Asn6Asp) n.1335A>G n.462A>G c.922A>G (p.Asn308Asp) c.652A>G (p.Asn218Asp) | |
11 | g.123058794T>G | CA383057408 | HSPA8 | c.1360A>C (p.Asn454His) c.133A>C (p.Asn45His) c.1303A>C (p.Asn435His) c.16A>C (p.Asn6His) n.1335A>C n.462A>C c.922A>C (p.Asn308His) c.652A>C (p.Asn218His) | |
11 | g.123058795G>A | CA477385375 | HSPA8 | c.1359C>T (p.Asn453=) c.132C>T (p.Asn44=) c.1302C>T (p.Asn434=) c.15C>T (p.Asn5=) n.1334C>T n.461C>T c.921C>T (p.Asn307=) c.651C>T (p.Asn217=) | gnomAD v4 |
11 | g.123058795G>C | CA383057410 | HSPA8 | c.1359C>G (p.Asn453Lys) c.132C>G (p.Asn44Lys) c.1302C>G (p.Asn434Lys) c.15C>G (p.Asn5Lys) n.1334C>G n.461C>G c.921C>G (p.Asn307Lys) c.651C>G (p.Asn217Lys) | |
11 | g.123058795G>T | CA383057411 | HSPA8 | c.1359C>A (p.Asn453Lys) c.132C>A (p.Asn44Lys) c.1302C>A (p.Asn434Lys) c.15C>A (p.Asn5Lys) n.1334C>A n.461C>A c.921C>A (p.Asn307Lys) c.651C>A (p.Asn217Lys) | |
11 | g.123058796T>A | CA383057412 | HSPA8 | c.1358A>T (p.Asn453Ile) c.131A>T (p.Asn44Ile) c.1301A>T (p.Asn434Ile) c.14A>T (p.Asn5Ile) n.1333A>T n.460A>T c.920A>T (p.Asn307Ile) c.650A>T (p.Asn217Ile) | |
11 | g.123058796T>C | CA383057413 | HSPA8 | c.1358A>G (p.Asn453Ser) c.131A>G (p.Asn44Ser) c.1301A>G (p.Asn434Ser) c.14A>G (p.Asn5Ser) n.1333A>G n.460A>G c.920A>G (p.Asn307Ser) c.650A>G (p.Asn217Ser) | |
11 | g.123058796T>G | CA383057414 | HSPA8 | c.1358A>C (p.Asn453Thr) c.131A>C (p.Asn44Thr) c.1301A>C (p.Asn434Thr) c.14A>C (p.Asn5Thr) n.1333A>C n.460A>C c.920A>C (p.Asn307Thr) c.650A>C (p.Asn217Thr) | |
11 | g.123058797T>A | CA383057415 | HSPA8 | c.1357A>T (p.Asn453Tyr) c.130A>T (p.Asn44Tyr) c.1300A>T (p.Asn434Tyr) c.13A>T (p.Asn5Tyr) n.1332A>T n.459A>T c.919A>T (p.Asn307Tyr) c.649A>T (p.Asn217Tyr) | |
11 | g.123058797T>C | CA383057417 | HSPA8 | c.1357A>G (p.Asn453Asp) c.130A>G (p.Asn44Asp) c.1300A>G (p.Asn434Asp) c.13A>G (p.Asn5Asp) n.1332A>G n.459A>G c.919A>G (p.Asn307Asp) c.649A>G (p.Asn217Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.123058797T>G | CA383057416 | HSPA8 | c.1357A>C (p.Asn453His) c.130A>C (p.Asn44His) c.1300A>C (p.Asn434His) c.13A>C (p.Asn5His) n.1332A>C n.459A>C c.919A>C (p.Asn307His) c.649A>C (p.Asn217His) | |
11 | g.123058797T= | CA2005595633 | HSPA8 | c.1357A= (p.Asn453=) c.130A= (p.Asn44=) c.1300A= (p.Asn434=) c.13A= (p.Asn5=) n.1332A= n.459A= c.919A= (p.Asn307=) c.649A= (p.Asn217=) | |
11 | g.123058798A>C | CA383057418 | HSPA8 | c.1356T>G (p.Asp452Glu) c.129T>G (p.Asp43Glu) c.1299T>G (p.Asp433Glu) c.12T>G (p.Asp4Glu) n.1331T>G n.458T>G c.918T>G (p.Asp306Glu) c.648T>G (p.Asp216Glu) | |
11 | g.123058798A>G | CA477385376 | HSPA8 | c.1356T>C (p.Asp452=) c.129T>C (p.Asp43=) c.1299T>C (p.Asp433=) c.12T>C (p.Asp4=) n.1331T>C n.458T>C c.918T>C (p.Asp306=) c.648T>C (p.Asp216=) | |
11 | g.123058798A>T | CA383057419 | HSPA8 | c.1356T>A (p.Asp452Glu) c.129T>A (p.Asp43Glu) c.1299T>A (p.Asp433Glu) c.12T>A (p.Asp4Glu) n.1331T>A n.458T>A c.918T>A (p.Asp306Glu) c.648T>A (p.Asp216Glu) | |
11 | g.123058799T>A | CA383057420 | HSPA8 | c.1355A>T (p.Asp452Val) c.128A>T (p.Asp43Val) c.1298A>T (p.Asp433Val) c.11A>T (p.Asp4Val) n.1330A>T n.457A>T c.917A>T (p.Asp306Val) c.647A>T (p.Asp216Val) | |
11 | g.123058799T>C | CA383057421 | HSPA8 | c.1355A>G (p.Asp452Gly) c.128A>G (p.Asp43Gly) c.1298A>G (p.Asp433Gly) c.11A>G (p.Asp4Gly) n.1330A>G n.457A>G c.917A>G (p.Asp306Gly) c.647A>G (p.Asp216Gly) | dbSNP |
11 | g.123058799T>G | CA383057422 | HSPA8 | c.1355A>C (p.Asp452Ala) c.128A>C (p.Asp43Ala) c.1298A>C (p.Asp433Ala) c.11A>C (p.Asp4Ala) n.1330A>C n.457A>C c.917A>C (p.Asp306Ala) c.647A>C (p.Asp216Ala) | |
11 | g.123058799T= | CA2005595641 | HSPA8 | c.1355A= (p.Asp452=) c.128A= (p.Asp43=) c.1298A= (p.Asp433=) c.11A= (p.Asp4=) n.1330A= n.457A= c.917A= (p.Asp306=) c.647A= (p.Asp216=) | |
11 | g.123058800C>A | CA383057423 | HSPA8 | c.1354G>T (p.Asp452Tyr) c.127G>T (p.Asp43Tyr) c.1297G>T (p.Asp433Tyr) c.10G>T (p.Asp4Tyr) n.1329G>T n.456G>T c.916G>T (p.Asp306Tyr) c.646G>T (p.Asp216Tyr) | |
11 | g.123058800C>G | CA383057424 | HSPA8 | c.1354G>C (p.Asp452His) c.127G>C (p.Asp43His) c.1297G>C (p.Asp433His) c.10G>C (p.Asp4His) n.1329G>C n.456G>C c.916G>C (p.Asp306His) c.646G>C (p.Asp216His) | |
11 | g.123058800C>T | CA383057425 | HSPA8 | c.1354G>A (p.Asp452Asn) c.127G>A (p.Asp43Asn) c.1297G>A (p.Asp433Asn) c.10G>A (p.Asp4Asn) n.1329G>A n.456G>A c.916G>A (p.Asp306Asn) c.646G>A (p.Asp216Asn) | |
11 | g.123058801C>A | CA383057426 | HSPA8 | c.1353G>T (p.Lys451Asn) c.126G>T (p.Lys42Asn) c.1296G>T (p.Lys432Asn) c.9G>T (p.Lys3Asn) n.1328G>T n.455G>T c.915G>T (p.Lys305Asn) c.645G>T (p.Lys215Asn) | |
11 | g.123058801C= | CA2005595645 | HSPA8 | c.1353G= (p.Lys451=) c.126G= (p.Lys42=) c.1296G= (p.Lys432=) c.9G= (p.Lys3=) n.1328G= n.455G= c.915G= (p.Lys305=) c.645G= (p.Lys215=) | |
11 | g.123058801C>G | CA383057427 | HSPA8 | c.1353G>C (p.Lys451Asn) c.126G>C (p.Lys42Asn) c.1296G>C (p.Lys432Asn) c.9G>C (p.Lys3Asn) n.1328G>C n.455G>C c.915G>C (p.Lys305Asn) c.645G>C (p.Lys215Asn) | |
11 | g.123058801C>T | CA477385377 | HSPA8 | c.1353G>A (p.Lys451=) c.126G>A (p.Lys42=) c.1296G>A (p.Lys432=) c.9G>A (p.Lys3=) n.1328G>A n.455G>A c.915G>A (p.Lys305=) c.645G>A (p.Lys215=) | dbSNP gnomAD v4 |
11 | g.123058802T>A | CA383057430 | HSPA8 | c.1352A>T (p.Lys451Met) c.125A>T (p.Lys42Met) c.1295A>T (p.Lys432Met) c.8A>T (p.Lys3Met) n.1327A>T n.454A>T c.914A>T (p.Lys305Met) c.644A>T (p.Lys215Met) | |
11 | g.123058802T>C | CA383057429 | HSPA8 | c.1352A>G (p.Lys451Arg) c.125A>G (p.Lys42Arg) c.1295A>G (p.Lys432Arg) c.8A>G (p.Lys3Arg) n.1327A>G n.454A>G c.914A>G (p.Lys305Arg) c.644A>G (p.Lys215Arg) | gnomAD v4 |
11 | g.123058802T>G | CA383057428 | HSPA8 | c.1352A>C (p.Lys451Thr) c.125A>C (p.Lys42Thr) c.1295A>C (p.Lys432Thr) c.8A>C (p.Lys3Thr) n.1327A>C n.454A>C c.914A>C (p.Lys305Thr) c.644A>C (p.Lys215Thr) | |
11 | g.123058803T>A | CA383057431 | HSPA8 | c.1351A>T (p.Lys451Ter) c.124A>T (p.Lys42Ter) c.1294A>T (p.Lys432Ter) c.7A>T (p.Lys3Ter) n.1326A>T n.453A>T c.913A>T (p.Lys305Ter) c.643A>T (p.Lys215Ter) | |
11 | g.123058803T>C | CA383057433 | HSPA8 | c.1351A>G (p.Lys451Glu) c.124A>G (p.Lys42Glu) c.1294A>G (p.Lys432Glu) c.7A>G (p.Lys3Glu) n.1326A>G n.453A>G c.913A>G (p.Lys305Glu) c.643A>G (p.Lys215Glu) | |
11 | g.123058803T>G | CA383057432 | HSPA8 | c.1351A>C (p.Lys451Gln) c.124A>C (p.Lys42Gln) c.1294A>C (p.Lys432Gln) c.7A>C (p.Lys3Gln) n.1326A>C n.453A>C c.913A>C (p.Lys305Gln) c.643A>C (p.Lys215Gln) | |
11 | g.123058804T>A | CA477385378 | HSPA8 | c.1350A>T (p.Thr450=) c.123A>T (p.Thr41=) c.1293A>T (p.Thr431=) c.6A>T (p.Thr2=) n.1325A>T n.452A>T c.912A>T (p.Thr304=) c.642A>T (p.Thr214=) | |
11 | g.123058804T>C | CA229966892 | HSPA8 | c.1350A>G (p.Thr450=) c.123A>G (p.Thr41=) c.1293A>G (p.Thr431=) c.6A>G (p.Thr2=) n.1325A>G n.452A>G c.912A>G (p.Thr304=) c.642A>G (p.Thr214=) | dbSNP |
11 | g.123058804T>G | CA477385379 | HSPA8 | c.1350A>C (p.Thr450=) c.123A>C (p.Thr41=) c.1293A>C (p.Thr431=) c.6A>C (p.Thr2=) n.1325A>C n.452A>C c.912A>C (p.Thr304=) c.642A>C (p.Thr214=) | |
11 | g.123058804T= | CA2005595648 | HSPA8 | c.1350A= (p.Thr450=) c.123A= (p.Thr41=) c.1293A= (p.Thr431=) c.6A= (p.Thr2=) n.1325A= n.452A= c.912A= (p.Thr304=) c.642A= (p.Thr214=) | |
11 | g.123058805G>A | CA383057434 | HSPA8 | c.1349C>T (p.Thr450Ile) c.122C>T (p.Thr41Ile) c.1292C>T (p.Thr431Ile) c.5C>T (p.Thr2Ile) n.1324C>T n.451C>T c.911C>T (p.Thr304Ile) c.641C>T (p.Thr214Ile) | |
11 | g.123058805G>C | CA383057435 | HSPA8 | c.1349C>G (p.Thr450Arg) c.122C>G (p.Thr41Arg) c.1292C>G (p.Thr431Arg) c.5C>G (p.Thr2Arg) n.1324C>G n.451C>G c.911C>G (p.Thr304Arg) c.641C>G (p.Thr214Arg) | |
11 | g.123058805G>T | CA383057436 | HSPA8 | c.1349C>A (p.Thr450Lys) c.122C>A (p.Thr41Lys) c.1292C>A (p.Thr431Lys) c.5C>A (p.Thr2Lys) n.1324C>A n.451C>A c.911C>A (p.Thr304Lys) c.641C>A (p.Thr214Lys) | |
11 | g.123058806T>A | CA383057437 | HSPA8 | c.1348A>T (p.Thr450Ser) c.121A>T (p.Thr41Ser) c.1291A>T (p.Thr431Ser) c.4A>T (p.Thr2Ser) n.1323A>T n.450A>T c.910A>T (p.Thr304Ser) c.640A>T (p.Thr214Ser) | |
11 | g.123058806T>C | CA383057438 | HSPA8 | c.1348A>G (p.Thr450Ala) c.121A>G (p.Thr41Ala) c.1291A>G (p.Thr431Ala) c.4A>G (p.Thr2Ala) n.1323A>G n.450A>G c.910A>G (p.Thr304Ala) c.640A>G (p.Thr214Ala) | |
11 | g.123058806T>G | CA383057439 | HSPA8 | c.1348A>C (p.Thr450Pro) c.121A>C (p.Thr41Pro) c.1291A>C (p.Thr431Pro) c.4A>C (p.Thr2Pro) n.1323A>C n.450A>C c.910A>C (p.Thr304Pro) c.640A>C (p.Thr214Pro) | |
11 | g.123058807C>A | CA383057440 | HSPA8 | c.1347G>T (p.Met449Ile) c.120G>T (p.Met40Ile) c.1290G>T (p.Met430Ile) c.3G>T (p.Met1Ile) n.1322G>T n.449G>T c.909G>T (p.Met303Ile) c.639G>T (p.Met213Ile) | |
11 | g.123058807C>G | CA383057441 | HSPA8 | c.1347G>C (p.Met449Ile) c.120G>C (p.Met40Ile) c.1290G>C (p.Met430Ile) c.3G>C (p.Met1Ile) n.1322G>C n.449G>C c.909G>C (p.Met303Ile) c.639G>C (p.Met213Ile) | |
11 | g.123058807C>T | CA383057442 | HSPA8 | c.1347G>A (p.Met449Ile) c.120G>A (p.Met40Ile) c.1290G>A (p.Met430Ile) c.3G>A (p.Met1Ile) n.1322G>A n.449G>A c.909G>A (p.Met303Ile) c.639G>A (p.Met213Ile) | |
11 | g.123058808A>C | CA383057443 | HSPA8 | c.1346T>G (p.Met449Arg) c.119T>G (p.Met40Arg) c.1289T>G (p.Met430Arg) c.2T>G (p.Met1Arg) n.1321T>G n.448T>G c.908T>G (p.Met303Arg) c.638T>G (p.Met213Arg) | |
11 | g.123058808A>G | CA383057444 | HSPA8 | c.1346T>C (p.Met449Thr) c.119T>C (p.Met40Thr) c.1289T>C (p.Met430Thr) c.2T>C (p.Met1Thr) n.1321T>C n.448T>C c.908T>C (p.Met303Thr) c.638T>C (p.Met213Thr) | |
11 | g.123058808A>T | CA383057445 | HSPA8 | c.1346T>A (p.Met449Lys) c.119T>A (p.Met40Lys) c.1289T>A (p.Met430Lys) c.2T>A (p.Met1Lys) n.1321T>A n.448T>A c.908T>A (p.Met303Lys) c.638T>A (p.Met213Lys) | |
11 | g.123058809T>A | CA383057446 | HSPA8 | c.1345A>T (p.Met449Leu) c.118A>T (p.Met40Leu) c.1288A>T (p.Met430Leu) c.1A>T (p.Met1Leu) n.1320A>T n.447A>T c.907A>T (p.Met303Leu) c.637A>T (p.Met213Leu) | |
11 | g.123058809T>C | CA383057448 | HSPA8 | c.1345A>G (p.Met449Val) c.118A>G (p.Met40Val) c.1288A>G (p.Met430Val) c.1A>G (p.Met1Val) n.1320A>G n.447A>G c.907A>G (p.Met303Val) c.637A>G (p.Met213Val) | |
11 | g.123058809T>G | CA383057447 | HSPA8 | c.1345A>C (p.Met449Leu) c.118A>C (p.Met40Leu) c.1288A>C (p.Met430Leu) c.1A>C (p.Met1Leu) n.1320A>C n.447A>C c.907A>C (p.Met303Leu) c.637A>C (p.Met213Leu) | |
11 | g.123058810G>A | CA477385380 | HSPA8 | c.1344C>T (p.Ala448=) c.117C>T (p.Ala39=) c.1287C>T (p.Ala429=) c.-1C>T (n.-1C>T) n.1319C>T n.446C>T c.906C>T (p.Ala302=) c.636C>T (p.Ala212=) | |
11 | g.123058810G>C | CA477385381 | HSPA8 | c.1344C>G (p.Ala448=) c.117C>G (p.Ala39=) c.1287C>G (p.Ala429=) c.-1C>G (n.-1C>G) n.1319C>G n.446C>G c.906C>G (p.Ala302=) c.636C>G (p.Ala212=) | |
11 | g.123058810G>T | CA477385382 | HSPA8 | c.1344C>A (p.Ala448=) c.117C>A (p.Ala39=) c.1287C>A (p.Ala429=) c.-1C>A (n.-1C>A) n.1319C>A n.446C>A c.906C>A (p.Ala302=) c.636C>A (p.Ala212=) | |
11 | g.123058811G>A | CA383057449 | HSPA8 | c.1343C>T (p.Ala448Val) c.116C>T (p.Ala39Val) c.1286C>T (p.Ala429Val) c.-2C>T (n.-2C>T) n.1318C>T n.445C>T c.905C>T (p.Ala302Val) c.635C>T (p.Ala212Val) | gnomAD v4 |
11 | g.123058811G>C | CA383057450 | HSPA8 | c.1343C>G (p.Ala448Gly) c.116C>G (p.Ala39Gly) c.1286C>G (p.Ala429Gly) c.-2C>G (n.-2C>G) n.1318C>G n.445C>G c.905C>G (p.Ala302Gly) c.635C>G (p.Ala212Gly) | |
11 | g.123058811G>T | CA383057451 | HSPA8 | c.1343C>A (p.Ala448Asp) c.116C>A (p.Ala39Asp) c.1286C>A (p.Ala429Asp) c.-2C>A (n.-2C>A) n.1318C>A n.445C>A c.905C>A (p.Ala302Asp) c.635C>A (p.Ala212Asp) | |
11 | g.123058812C>A | CA383057452 | HSPA8 | c.1342G>T (p.Ala448Ser) c.115G>T (p.Ala39Ser) c.1285G>T (p.Ala429Ser) c.-3G>T (n.-3G>T) n.1317G>T n.444G>T c.904G>T (p.Ala302Ser) c.634G>T (p.Ala212Ser) | |
11 | g.123058812C>G | CA383057453 | HSPA8 | c.1342G>C (p.Ala448Pro) c.115G>C (p.Ala39Pro) c.1285G>C (p.Ala429Pro) c.-3G>C (n.-3G>C) n.1317G>C n.444G>C c.904G>C (p.Ala302Pro) c.634G>C (p.Ala212Pro) | |
11 | g.123058812C>T | CA383057454 | HSPA8 | c.1342G>A (p.Ala448Thr) c.115G>A (p.Ala39Thr) c.1285G>A (p.Ala429Thr) c.-3G>A (n.-3G>A) n.1317G>A n.444G>A c.904G>A (p.Ala302Thr) c.634G>A (p.Ala212Thr) | |
11 | g.123058813A>C | CA477385383 | HSPA8 | c.1341T>G (p.Arg447=) c.114T>G (p.Arg38=) c.1284T>G (p.Arg428=) c.-4T>G (n.-4T>G) n.1316T>G n.443T>G c.903T>G (p.Arg301=) c.633T>G (p.Arg211=) | gnomAD v4 |
11 | g.123058813A>G | CA477385384 | HSPA8 | c.1341T>C (p.Arg447=) c.114T>C (p.Arg38=) c.1284T>C (p.Arg428=) c.-4T>C (n.-4T>C) n.1316T>C n.443T>C c.903T>C (p.Arg301=) c.633T>C (p.Arg211=) | |
11 | g.123058813A>T | CA477385385 | HSPA8 | c.1341T>A (p.Arg447=) c.114T>A (p.Arg38=) c.1284T>A (p.Arg428=) c.-4T>A (n.-4T>A) n.1316T>A n.443T>A c.903T>A (p.Arg301=) c.633T>A (p.Arg211=) | |
11 | g.123058814C>A | CA383057455 | HSPA8 | c.1340G>T (p.Arg447Leu) c.113G>T (p.Arg38Leu) c.1283G>T (p.Arg428Leu) c.-5G>T (n.-5G>T) n.1315G>T n.442G>T c.902G>T (p.Arg301Leu) c.632G>T (p.Arg211Leu) | |
11 | g.123058814C>G | CA383057456 | HSPA8 | c.1340G>C (p.Arg447Pro) c.113G>C (p.Arg38Pro) c.1283G>C (p.Arg428Pro) c.-5G>C (n.-5G>C) n.1315G>C n.442G>C c.902G>C (p.Arg301Pro) c.632G>C (p.Arg211Pro) | |
11 | g.123058814C>T | CA383057457 | HSPA8 | c.1340G>A (p.Arg447His) c.113G>A (p.Arg38His) c.1283G>A (p.Arg428His) c.-5G>A (n.-5G>A) n.1315G>A n.442G>A c.902G>A (p.Arg301His) c.632G>A (p.Arg211His) | |
11 | g.123058815G>A | CA383057460 | HSPA8 | c.1339C>T (p.Arg447Cys) c.112C>T (p.Arg38Cys) c.1282C>T (p.Arg428Cys) c.-6C>T (n.-6C>T) n.1314C>T n.441C>T c.901C>T (p.Arg301Cys) c.631C>T (p.Arg211Cys) | |
11 | g.123058815G>C | CA383057459 | HSPA8 | c.1339C>G (p.Arg447Gly) c.112C>G (p.Arg38Gly) c.1282C>G (p.Arg428Gly) c.-6C>G (n.-6C>G) n.1314C>G n.441C>G c.901C>G (p.Arg301Gly) c.631C>G (p.Arg211Gly) | |
11 | g.123058815G>T | CA383057458 | HSPA8 | c.1339C>A (p.Arg447Ser) c.112C>A (p.Arg38Ser) c.1282C>A (p.Arg428Ser) c.-6C>A (n.-6C>A) n.1314C>A n.441C>A c.901C>A (p.Arg301Ser) c.631C>A (p.Arg211Ser) | |
11 | g.123058816C>A | CA383057461 | HSPA8 | c.1338G>T (p.Glu446Asp) c.111G>T (p.Glu37Asp) c.1281G>T (p.Glu427Asp) c.-7G>T (n.-7G>T) n.1313G>T n.440G>T c.900G>T (p.Glu300Asp) c.630G>T (p.Glu210Asp) | |
11 | g.123058816C>G | CA383057462 | HSPA8 | c.1338G>C (p.Glu446Asp) c.111G>C (p.Glu37Asp) c.1281G>C (p.Glu427Asp) c.-7G>C (n.-7G>C) n.1313G>C n.440G>C c.900G>C (p.Glu300Asp) c.630G>C (p.Glu210Asp) | |
11 | g.123058816C>T | CA477385386 | HSPA8 | c.1338G>A (p.Glu446=) c.111G>A (p.Glu37=) c.1281G>A (p.Glu427=) c.-7G>A (n.-7G>A) n.1313G>A n.440G>A c.900G>A (p.Glu300=) c.630G>A (p.Glu210=) | |
11 | g.123058817T>A | CA383057463 | HSPA8 | c.1337A>T (p.Glu446Val) c.110A>T (p.Glu37Val) c.1280A>T (p.Glu427Val) c.-8A>T (n.-8A>T) n.1312A>T n.439A>T c.899A>T (p.Glu300Val) c.629A>T (p.Glu210Val) | |
11 | g.123058817T>C | CA383057464 | HSPA8 | c.1337A>G (p.Glu446Gly) c.110A>G (p.Glu37Gly) c.1280A>G (p.Glu427Gly) c.-8A>G (n.-8A>G) n.1312A>G n.439A>G c.899A>G (p.Glu300Gly) c.629A>G (p.Glu210Gly) | |
11 | g.123058817T>G | CA383057465 | HSPA8 | c.1337A>C (p.Glu446Ala) c.110A>C (p.Glu37Ala) c.1280A>C (p.Glu427Ala) c.-8A>C (n.-8A>C) n.1312A>C n.439A>C c.899A>C (p.Glu300Ala) c.629A>C (p.Glu210Ala) | |
11 | g.123058818C>A | CA383057466 | HSPA8 | c.1336G>T (p.Glu446Ter) c.109G>T (p.Glu37Ter) c.1279G>T (p.Glu427Ter) c.-9G>T (n.-9G>T) n.1311G>T n.438G>T c.898G>T (p.Glu300Ter) c.628G>T (p.Glu210Ter) | |
11 | g.123058818C>G | CA383057467 | HSPA8 | c.1336G>C (p.Glu446Gln) c.109G>C (p.Glu37Gln) c.1279G>C (p.Glu427Gln) c.-9G>C (n.-9G>C) n.1311G>C n.438G>C c.898G>C (p.Glu300Gln) c.628G>C (p.Glu210Gln) | COSMIC |
11 | g.123058818C>T | CA383057468 | HSPA8 | c.1336G>A (p.Glu446Lys) c.109G>A (p.Glu37Lys) c.1279G>A (p.Glu427Lys) c.-9G>A (n.-9G>A) n.1311G>A n.438G>A c.898G>A (p.Glu300Lys) c.628G>A (p.Glu210Lys) |