Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.123058731C>ACA383057273HSPA8c.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)
11g.123058731C>GCA383057274HSPA8c.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)
11g.123058731C>TCA383057275HSPA8c.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)
11g.123058732A=CA2005595500HSPA8c.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=)
11g.123058732A>CCA383057276HSPA8c.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)
11g.123058732A>GCA477385330HSPA8c.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
11g.123058732A>TCA477385331HSPA8c.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
11g.123058733A>CCA383057277HSPA8c.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)
11g.123058733A>GCA383057278HSPA8c.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)
11g.123058733A>TCA383057279HSPA8c.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)
11g.123058734T>ACA383057281HSPA8c.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)
11g.123058734T>CCA383057282HSPA8c.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)
11g.123058734T>GCA383057280HSPA8c.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)
11g.123058735C>ACA383057283HSPA8c.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)
11g.123058735C=CA2005595503HSPA8c.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=)
11g.123058735C>GCA383057284HSPA8c.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)
11g.123058735C>TCA477385332HSPA8c.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
11g.123058736T>ACA383057285HSPA8c.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)
11g.123058736T>CCA383057286HSPA8c.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
11g.123058736T>GCA383057287HSPA8c.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)
11g.123058736T=CA2005595507HSPA8c.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=)
11g.123058737G>ACA383057288HSPA8c.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)
11g.123058737G>CCA383057289HSPA8c.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)
11g.123058737G>TCA383057290HSPA8c.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)
11g.123058738A=CA2005595508HSPA8c.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=)
11g.123058738A>CCA477385333HSPA8c.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=)
11g.123058738A>GCA477385334HSPA8c.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
11g.123058738A>TCA477385335HSPA8c.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
11g.123058739G>ACA383057291HSPA8c.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
11g.123058739G>CCA383057292HSPA8c.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)
11g.123058739G>TCA383057293HSPA8c.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)
11g.123058740G>ACA383057296HSPA8c.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)
11g.123058740G>CCA383057295HSPA8c.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
11g.123058740G=CA2005595512HSPA8c.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=)
11g.123058740G>TCA383057294HSPA8c.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)
11g.123058741A>CCA477385336HSPA8c.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=)
11g.123058741A>GCA477385337HSPA8c.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=)
11g.123058741A>TCA477385338HSPA8c.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=)
11g.123058742A>CCA383057297HSPA8c.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)
11g.123058742A>GCA383057298HSPA8c.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)
11g.123058742A>TCA383057299HSPA8c.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)
11g.123058743C>ACA383057300HSPA8c.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)
11g.123058743C>GCA383057301HSPA8c.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)
11g.123058743C>TCA383057302HSPA8c.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)
11g.123058744A=CA2005595518HSPA8c.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=)
11g.123058744A>CCA477385339HSPA8c.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=)
11g.123058744A>GCA229966865HSPA8c.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
11g.123058744A>TCA477385340HSPA8c.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=)
11g.123058745C>ACA383057303HSPA8c.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)
11g.123058745C>GCA383057304HSPA8c.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)
11g.123058745C>TCA383057305HSPA8c.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)
11g.123058746C>ACA383057306HSPA8c.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)
11g.123058746C>GCA383057307HSPA8c.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)
11g.123058746C>TCA383057308HSPA8c.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)
11g.123058747T>ACA477385341HSPA8c.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
11g.123058747T>CCA477385342HSPA8c.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
11g.123058747T>GCA477385343HSPA8c.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
11g.123058748C>ACA383057310HSPA8c.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)
11g.123058748C>GCA383057311HSPA8c.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)
11g.123058748C>TCA383057309HSPA8c.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)
11g.123058749G>ACA383057313HSPA8c.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)
11g.123058749G>CCA383057312HSPA8c.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)
11g.123058749G>TCA477385344HSPA8c.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=)
11g.123058750G>ACA477385347HSPA8c.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
11g.123058750G>CCA477385345HSPA8c.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
11g.123058750G>TCA477385346HSPA8c.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
11g.123058751G>ACA383057314HSPA8c.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)
11g.123058751G>CCA383057315HSPA8c.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)
11g.123058751G>TCA383057316HSPA8c.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)
11g.123058752G>ACA383057317HSPA8c.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)
11g.123058752G>CCA383057318HSPA8c.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)
11g.123058752G>TCA383057319HSPA8c.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)
11g.123058753T>ACA477385348HSPA8c.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=)
11g.123058753T>CCA477385349HSPA8c.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
11g.123058753T>GCA477385350HSPA8c.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=)
11g.123058754G>ACA383057320HSPA8c.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)
11g.123058754G>CCA383057321HSPA8c.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)
11g.123058754G>TCA383057322HSPA8c.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)
11g.123058755C>ACA383057323HSPA8c.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)
11g.123058755C>GCA383057324HSPA8c.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)
11g.123058755C>TCA383057325HSPA8c.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)
11g.123058756A=CA2005595523HSPA8c.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=)
11g.123058756A>CCA6332476HSPA8c.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
11g.123058756A>GCA477385351HSPA8c.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
11g.123058756A>TCA477385352HSPA8c.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=)
11g.123058757G>ACA6332477HSPA8c.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
11g.123058757G>CCA383057326HSPA8c.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
11g.123058757G=CA2005595530HSPA8c.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=)
11g.123058757G>TCA383057327HSPA8c.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)
11g.123058758G>ACA383057328HSPA8c.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
11g.123058758G>CCA229966870HSPA8c.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
11g.123058758G=CA2005595536HSPA8c.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=)
11g.123058758G>TCA383057329HSPA8c.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)
11g.123058759A>CCA477385355HSPA8c.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=)
11g.123058759A>GCA477385354HSPA8c.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=)
11g.123058759A>TCA477385353HSPA8c.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=)
11g.123058760G>ACA383057330HSPA8c.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
11g.123058760G>CCA383057331HSPA8c.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)
11g.123058760G=CA2005595544HSPA8c.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=)
11g.123058760G>TCA383057332HSPA8c.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)
11g.123058761G>ACA383057333HSPA8c.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)
11g.123058761G>CCA383057334HSPA8c.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)
11g.123058761G>TCA383057335HSPA8c.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)
11g.123058762T>ACA477385356HSPA8c.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=)
11g.123058762T>CCA383057336HSPA8c.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
11g.123058762T>GCA477385357HSPA8c.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=)
11g.123058763A>CCA383057338HSPA8c.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)
11g.123058763A>GCA383057339HSPA8c.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)
11g.123058763A>TCA383057337HSPA8c.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)
11g.123058764T>ACA229966875HSPA8c.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
11g.123058764T>CCA383057340HSPA8c.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)
11g.123058764T>GCA383057341HSPA8c.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)
11g.123058764T=CA2005595551HSPA8c.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=)
11g.123058765G>ACA383057342HSPA8c.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=)
11g.123058765G>CCA383057343HSPA8c.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=)
11g.123058765G>TCA383057344HSPA8c.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=)
11g.123058766C>ACA383057345HSPA8c.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
11g.123058766C=CA2005595555HSPA8c.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=)
11g.123058766C>GCA383057346HSPA8c.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)
11g.123058766C>TCA383057347HSPA8c.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
11g.123058766_123058767insTATGGTTATCAGAAGCTCTTGTTCTTTCACCTTGTAAAACATTTATAGTAACAGCA2505798357HSPA8c.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)
11g.123058767C>ACA383057348HSPA8c.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)
11g.123058767C>GCA383057349HSPA8c.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)
11g.123058767C>TCA383057350HSPA8c.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)
11g.123058767_123058769delinsCTGCA2005595564HSPA8c.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=)
11g.123058768T>ACA477385358HSPA8c.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=)
11g.123058768T>CCA477385359HSPA8c.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
11g.123058768T>GCA477385360HSPA8c.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=)
11g.123058768T=CA2005595573HSPA8c.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=)
11g.123058770_123058771delCA602581180HSPA8c.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
11g.123058769G>ACA383057352HSPA8c.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)
11g.123058769G>CCA383057353HSPA8c.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)
11g.123058769G>TCA383057351HSPA8c.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
11g.123058770T>ACA383057354HSPA8c.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)
11g.123058770T>CCA6332478HSPA8c.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
11g.123058770T>GCA383057355HSPA8c.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)
11g.123058770T=CA2005595595HSPA8c.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=)
11g.123058771G>ACA477385361HSPA8c.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
11g.123058771G>CCA477385362HSPA8c.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=)
11g.123058771G=CA2005595598HSPA8c.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=)
11g.123058771G>TCA477385363HSPA8c.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=)
11g.123058771_123058773dupCA2616532796HSPA8c.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
11g.123058772A>CCA383057356HSPA8c.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)
11g.123058772A>GCA383057357HSPA8c.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)
11g.123058772A>TCA383057358HSPA8c.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)
11g.123058773G>ACA383057361HSPA8c.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)
11g.123058773G>CCA383057359HSPA8c.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)
11g.123058773G>TCA383057360HSPA8c.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)
11g.123058774T>ACA383057362HSPA8c.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)
11g.123058774T>CCA477385364HSPA8c.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=)
11g.123058774T>GCA383057363HSPA8c.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)
11g.123058775T>ACA383057364HSPA8c.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)
11g.123058775T>CCA383057365HSPA8c.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)
11g.123058775T>GCA383057366HSPA8c.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)
11g.123058776C>ACA383057369HSPA8c.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)
11g.123058776C>GCA383057368HSPA8c.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)
11g.123058776C>TCA383057367HSPA8c.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)
11g.123058777A>CCA383057370HSPA8c.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)
11g.123058777A>GCA477385365HSPA8c.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=)
11g.123058777A>TCA383057371HSPA8c.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)
11g.123058778A>CCA383057372HSPA8c.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)
11g.123058778A>GCA383057374HSPA8c.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)
11g.123058778A>TCA383057373HSPA8c.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)
11g.123058779A=CA2005595603HSPA8c.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=)
11g.123058779A>CCA383057375HSPA8c.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)
11g.123058779A>GCA229966880HSPA8c.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
11g.123058779A>TCA383057376HSPA8c.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)
11g.123058780C>ACA383057377HSPA8c.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)
11g.123058780C>GCA383057378HSPA8c.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)
11g.123058780C>TCA477385366HSPA8c.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
11g.123058781T>ACA383057379HSPA8c.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)
11g.123058781T>CCA383057380HSPA8c.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
11g.123058781T>GCA383057381HSPA8c.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)
11g.123058782T>ACA383057382HSPA8c.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)
11g.123058782T>CCA383057383HSPA8c.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)
11g.123058782T>GCA383057384HSPA8c.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)
11g.123058783G>ACA477385369HSPA8c.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=)
11g.123058783G>CCA477385368HSPA8c.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
11g.123058783G>TCA477385367HSPA8c.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=)
11g.123058784C>ACA383057385HSPA8c.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)
11g.123058784C>GCA383057386HSPA8c.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)
11g.123058784C>TCA383057387HSPA8c.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)
11g.123058785C>ACA383057390HSPA8c.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)
11g.123058785C>GCA383057388HSPA8c.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)
11g.123058785C>TCA383057389HSPA8c.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)
11g.123058786A=CA2005595610HSPA8c.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=)
11g.123058786A>CCA477385370HSPA8c.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
11g.123058786A>GCA477385371HSPA8c.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
11g.123058786A>TCA6332479HSPA8c.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
11g.123058787A>CCA383057391HSPA8c.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)
11g.123058787A>GCA383057392HSPA8c.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)
11g.123058787A>TCA383057393HSPA8c.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)
11g.123058788G>ACA383057394HSPA8c.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)
11g.123058788G>CCA383057395HSPA8c.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)
11g.123058788G>TCA383057396HSPA8c.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)
11g.123058789C>ACA477385372HSPA8c.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=)
11g.123058789C=CA2005595623HSPA8c.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=)
11g.123058789C>GCA6332480HSPA8c.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
11g.123058789C>TCA477385373HSPA8c.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
11g.123058790A>CCA383057397HSPA8c.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)
11g.123058790A>GCA383057398HSPA8c.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)
11g.123058790A>TCA383057399HSPA8c.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)
11g.123058791G>ACA477385374HSPA8c.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
11g.123058791G>CCA383057401HSPA8c.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)
11g.123058791G>TCA383057400HSPA8c.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)
11g.123058792G>ACA6332481HSPA8c.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
11g.123058792G>CCA383057402HSPA8c.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)
11g.123058792G=CA2005595630HSPA8c.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=)
11g.123058792G>TCA383057403HSPA8c.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)
11g.123058793T>ACA383057404HSPA8c.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)
11g.123058793T>CCA383057405HSPA8c.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
11g.123058793T>GCA383057406HSPA8c.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)
11g.123058794T>ACA383057409HSPA8c.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)
11g.123058794T>CCA383057407HSPA8c.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)
11g.123058794T>GCA383057408HSPA8c.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)
11g.123058795G>ACA477385375HSPA8c.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
11g.123058795G>CCA383057410HSPA8c.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)
11g.123058795G>TCA383057411HSPA8c.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)
11g.123058796T>ACA383057412HSPA8c.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)
11g.123058796T>CCA383057413HSPA8c.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)
11g.123058796T>GCA383057414HSPA8c.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)
11g.123058797T>ACA383057415HSPA8c.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)
11g.123058797T>CCA383057417HSPA8c.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
11g.123058797T>GCA383057416HSPA8c.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)
11g.123058797T=CA2005595633HSPA8c.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=)
11g.123058798A>CCA383057418HSPA8c.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)
11g.123058798A>GCA477385376HSPA8c.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=)
11g.123058798A>TCA383057419HSPA8c.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)
11g.123058799T>ACA383057420HSPA8c.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)
11g.123058799T>CCA383057421HSPA8c.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
11g.123058799T>GCA383057422HSPA8c.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)
11g.123058799T=CA2005595641HSPA8c.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=)
11g.123058800C>ACA383057423HSPA8c.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)
11g.123058800C>GCA383057424HSPA8c.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)
11g.123058800C>TCA383057425HSPA8c.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)
11g.123058801C>ACA383057426HSPA8c.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)
11g.123058801C=CA2005595645HSPA8c.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=)
11g.123058801C>GCA383057427HSPA8c.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)
11g.123058801C>TCA477385377HSPA8c.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
11g.123058802T>ACA383057430HSPA8c.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)
11g.123058802T>CCA383057429HSPA8c.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
11g.123058802T>GCA383057428HSPA8c.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)
11g.123058803T>ACA383057431HSPA8c.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)
11g.123058803T>CCA383057433HSPA8c.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)
11g.123058803T>GCA383057432HSPA8c.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)
11g.123058804T>ACA477385378HSPA8c.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=)
11g.123058804T>CCA229966892HSPA8c.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
11g.123058804T>GCA477385379HSPA8c.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=)
11g.123058804T=CA2005595648HSPA8c.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=)
11g.123058805G>ACA383057434HSPA8c.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)
11g.123058805G>CCA383057435HSPA8c.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)
11g.123058805G>TCA383057436HSPA8c.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)
11g.123058806T>ACA383057437HSPA8c.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)
11g.123058806T>CCA383057438HSPA8c.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)
11g.123058806T>GCA383057439HSPA8c.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)
11g.123058807C>ACA383057440HSPA8c.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)
11g.123058807C>GCA383057441HSPA8c.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)
11g.123058807C>TCA383057442HSPA8c.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)
11g.123058808A>CCA383057443HSPA8c.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)
11g.123058808A>GCA383057444HSPA8c.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)
11g.123058808A>TCA383057445HSPA8c.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)
11g.123058809T>ACA383057446HSPA8c.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)
11g.123058809T>CCA383057448HSPA8c.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)
11g.123058809T>GCA383057447HSPA8c.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)
11g.123058810G>ACA477385380HSPA8c.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=)
11g.123058810G>CCA477385381HSPA8c.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=)
11g.123058810G>TCA477385382HSPA8c.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=)
11g.123058811G>ACA383057449HSPA8c.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
11g.123058811G>CCA383057450HSPA8c.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)
11g.123058811G>TCA383057451HSPA8c.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)
11g.123058812C>ACA383057452HSPA8c.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)
11g.123058812C>GCA383057453HSPA8c.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)
11g.123058812C>TCA383057454HSPA8c.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)
11g.123058813A>CCA477385383HSPA8c.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
11g.123058813A>GCA477385384HSPA8c.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=)
11g.123058813A>TCA477385385HSPA8c.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=)
11g.123058814C>ACA383057455HSPA8c.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)
11g.123058814C>GCA383057456HSPA8c.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)
11g.123058814C>TCA383057457HSPA8c.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)
11g.123058815G>ACA383057460HSPA8c.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)
11g.123058815G>CCA383057459HSPA8c.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)
11g.123058815G>TCA383057458HSPA8c.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)
11g.123058816C>ACA383057461HSPA8c.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)
11g.123058816C>GCA383057462HSPA8c.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)
11g.123058816C>TCA477385386HSPA8c.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=)
11g.123058817T>ACA383057463HSPA8c.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)
11g.123058817T>CCA383057464HSPA8c.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)
11g.123058817T>GCA383057465HSPA8c.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)
11g.123058818C>ACA383057466HSPA8c.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)
11g.123058818C>GCA383057467HSPA8c.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
11g.123058818C>TCA383057468HSPA8c.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)
11g.123058819G>ACA6332482HSPA8c.1335C>T (p.Gly445=)
c.108C>T (p.Gly36=)
c.1278C>T (p.Gly426=)
c.-10C>T (n.-10C>T)
n.1310C>T
n.437C>T
c.897C>T (p.Gly299=)
c.627C>T (p.Gly209=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.123058819G>CCA477385387HSPA8c.1335C>G (p.Gly445=)
c.108C>G (p.Gly36=)
c.1278C>G (p.Gly426=)
c.-10C>G (n.-10C>G)
n.1310C>G
n.437C>G
c.897C>G (p.Gly299=)
c.627C>G (p.Gly209=)
 gnomAD v4
11g.123058819G=CA2005595654HSPA8c.1335C= (p.Gly445=)
c.108C= (p.Gly36=)
c.1278C= (p.Gly426=)
c.-10C= (n.-10C=)
n.1310C=
n.437C=
c.897C= (p.Gly299=)
c.627C= (p.Gly209=)
11g.123058819G>TCA477385388HSPA8c.1335C>A (p.Gly445=)
c.108C>A (p.Gly36=)
c.1278C>A (p.Gly426=)
c.-10C>A (n.-10C>A)
n.1310C>A
n.437C>A
c.897C>A (p.Gly299=)
c.627C>A (p.Gly209=)
 dbSNP gnomAD v3 gnomAD v4
11g.123058820C>ACA383057469HSPA8c.1334G>T (p.Gly445Val)
c.107G>T (p.Gly36Val)
c.1277G>T (p.Gly426Val)
c.-11G>T (n.-11G>T)
n.1309G>T
n.436G>T
c.896G>T (p.Gly299Val)
c.626G>T (p.Gly209Val)
11g.123058820C>GCA383057470HSPA8c.1334G>C (p.Gly445Ala)
c.107G>C (p.Gly36Ala)
c.1277G>C (p.Gly426Ala)
c.-11G>C (n.-11G>C)
n.1309G>C
n.436G>C
c.896G>C (p.Gly299Ala)
c.626G>C (p.Gly209Ala)
11g.123058820C>TCA383057471HSPA8c.1334G>A (p.Gly445Asp)
c.107G>A (p.Gly36Asp)
c.1277G>A (p.Gly426Asp)
c.-11G>A (n.-11G>A)
n.1309G>A
n.436G>A
c.896G>A (p.Gly299Asp)
c.626G>A (p.Gly209Asp)
11g.123058821C>ACA383057474HSPA8c.1333G>T (p.Gly445Cys)
c.106G>T (p.Gly36Cys)
c.1276G>T (p.Gly426Cys)
c.-12G>T (n.-12G>T)
n.1308G>T
n.435G>T
c.895G>T (p.Gly299Cys)
c.625G>T (p.Gly209Cys)
11g.123058821C>GCA383057473HSPA8c.1333G>C (p.Gly445Arg)
c.106G>C (p.Gly36Arg)
c.1276G>C (p.Gly426Arg)
c.-12G>C (n.-12G>C)
n.1308G>C
n.435G>C
c.895G>C (p.Gly299Arg)
c.625G>C (p.Gly209Arg)
11g.123058821C>TCA383057472HSPA8c.1333G>A (p.Gly445Ser)
c.106G>A (p.Gly36Ser)
c.1276G>A (p.Gly426Ser)
c.-12G>A (n.-12G>A)
n.1308G>A
n.435G>A
c.895G>A (p.Gly299Ser)
c.625G>A (p.Gly209Ser)
 COSMIC
11g.123058822T>ACA383057475HSPA8c.1332A>T (p.Glu444Asp)
c.105A>T (p.Glu35Asp)
c.1275A>T (p.Glu425Asp)
c.-13A>T (n.-13A>T)
n.1307A>T
n.434A>T
c.894A>T (p.Glu298Asp)
c.624A>T (p.Glu208Asp)
11g.123058822T>CCA477385389HSPA8c.1332A>G (p.Glu444=)
c.105A>G (p.Glu35=)
c.1275A>G (p.Glu425=)
c.-13A>G (n.-13A>G)
n.1307A>G
n.434A>G
c.894A>G (p.Glu298=)
c.624A>G (p.Glu208=)
11g.123058822T>GCA383057476HSPA8c.1332A>C (p.Glu444Asp)
c.105A>C (p.Glu35Asp)
c.1275A>C (p.Glu425Asp)
c.-13A>C (n.-13A>C)
n.1307A>C
n.434A>C
c.894A>C (p.Glu298Asp)
c.624A>C (p.Glu208Asp)
11g.123058823T>ACA383057477HSPA8c.1331A>T (p.Glu444Val)
c.104A>T (p.Glu35Val)
c.1274A>T (p.Glu425Val)
c.-14A>T (n.-14A>T)
n.1306A>T
n.433A>T
c.893A>T (p.Glu298Val)
c.623A>T (p.Glu208Val)
11g.123058823T>CCA383057478HSPA8c.1331A>G (p.Glu444Gly)
c.104A>G (p.Glu35Gly)
c.1274A>G (p.Glu425Gly)
c.-14A>G (n.-14A>G)
n.1306A>G
n.433A>G
c.893A>G (p.Glu298Gly)
c.623A>G (p.Glu208Gly)
11g.123058823T>GCA383057479HSPA8c.1331A>C (p.Glu444Ala)
c.104A>C (p.Glu35Ala)
c.1274A>C (p.Glu425Ala)
c.-14A>C (n.-14A>C)
n.1306A>C
n.433A>C
c.893A>C (p.Glu298Ala)
c.623A>C (p.Glu208Ala)
11g.123058824C>ACA383057480HSPA8c.1330G>T (p.Glu444Ter)
c.103G>T (p.Glu35Ter)
c.1273G>T (p.Glu425Ter)
c.-15G>T (n.-15G>T)
n.1305G>T
n.432G>T
c.892G>T (p.Glu298Ter)
c.622G>T (p.Glu208Ter)
11g.123058824C>GCA383057481HSPA8c.1330G>C (p.Glu444Gln)
c.103G>C (p.Glu35Gln)
c.1273G>C (p.Glu425Gln)
c.-15G>C (n.-15G>C)
n.1305G>C
n.432G>C
c.892G>C (p.Glu298Gln)
c.622G>C (p.Glu208Gln)
11g.123058824C>TCA383057482HSPA8c.1330G>A (p.Glu444Lys)
c.103G>A (p.Glu35Lys)
c.1273G>A (p.Glu425Lys)
c.-15G>A (n.-15G>A)
n.1305G>A
n.432G>A
c.892G>A (p.Glu298Lys)
c.622G>A (p.Glu208Lys)
11g.123058825A>CCA383057483HSPA8c.1329T>G (p.Tyr443Ter)
c.102T>G (p.Tyr34Ter)
c.1272T>G (p.Tyr424Ter)
c.-16T>G (n.-16T>G)
n.1304T>G
n.431T>G
c.891T>G (p.Tyr297Ter)
c.621T>G (p.Tyr207Ter)
11g.123058825A>GCA477385390HSPA8c.1329T>C (p.Tyr443=)
c.102T>C (p.Tyr34=)
c.1272T>C (p.Tyr424=)
c.-16T>C (n.-16T>C)
n.1304T>C
n.431T>C
c.891T>C (p.Tyr297=)
c.621T>C (p.Tyr207=)
 gnomAD v4
11g.123058825A>TCA383057484HSPA8c.1329T>A (p.Tyr443Ter)
c.102T>A (p.Tyr34Ter)
c.1272T>A (p.Tyr424Ter)
c.-16T>A (n.-16T>A)
n.1304T>A
n.431T>A
c.891T>A (p.Tyr297Ter)
c.621T>A (p.Tyr207Ter)
11g.123058826T>ACA383057485HSPA8c.1328A>T (p.Tyr443Phe)
c.101A>T (p.Tyr34Phe)
c.1271A>T (p.Tyr424Phe)
c.-17A>T (n.-17A>T)
n.1303A>T
n.430A>T
c.890A>T (p.Tyr297Phe)
c.620A>T (p.Tyr207Phe)
11g.123058826T>CCA383057486HSPA8c.1328A>G (p.Tyr443Cys)
c.101A>G (p.Tyr34Cys)
c.1271A>G (p.Tyr424Cys)
c.-17A>G (n.-17A>G)
n.1303A>G
n.430A>G
c.890A>G (p.Tyr297Cys)
c.620A>G (p.Tyr207Cys)
11g.123058826T>GCA383057487HSPA8c.1328A>C (p.Tyr443Ser)
c.101A>C (p.Tyr34Ser)
c.1271A>C (p.Tyr424Ser)
c.-17A>C (n.-17A>C)
n.1303A>C
n.430A>C
c.890A>C (p.Tyr297Ser)
c.620A>C (p.Tyr207Ser)
11g.123058827A>CCA383057489HSPA8c.1327T>G (p.Tyr443Asp)
c.100T>G (p.Tyr34Asp)
c.1270T>G (p.Tyr424Asp)
c.-18T>G (n.-18T>G)
n.1302T>G
n.429T>G
c.889T>G (p.Tyr297Asp)
c.619T>G (p.Tyr207Asp)
11g.123058827A>GCA383057490HSPA8c.1327T>C (p.Tyr443His)
c.100T>C (p.Tyr34His)
c.1270T>C (p.Tyr424His)
c.-18T>C (n.-18T>C)
n.1302T>C
n.429T>C
c.889T>C (p.Tyr297His)
c.619T>C (p.Tyr207His)
 gnomAD v4 COSMIC
11g.123058827A>TCA383057488HSPA8c.1327T>A (p.Tyr443Asn)
c.100T>A (p.Tyr34Asn)
c.1270T>A (p.Tyr424Asn)
c.-18T>A (n.-18T>A)
n.1302T>A
n.429T>A
c.889T>A (p.Tyr297Asn)
c.619T>A (p.Tyr207Asn)
11g.123058828A>CCA477385393HSPA8c.1326T>G (p.Val442=)
c.99T>G (p.Val33=)
c.1269T>G (p.Val423=)
c.-19T>G (n.-19T>G)
n.1301T>G
n.428T>G
c.888T>G (p.Val296=)
c.618T>G (p.Val206=)
11g.123058828A>GCA477385391HSPA8c.1326T>C (p.Val442=)
c.99T>C (p.Val33=)
c.1269T>C (p.Val423=)
c.-19T>C (n.-19T>C)
n.1301T>C
n.428T>C
c.888T>C (p.Val296=)
c.618T>C (p.Val206=)
11g.123058828A>TCA477385392HSPA8c.1326T>A (p.Val442=)
c.99T>A (p.Val33=)
c.1269T>A (p.Val423=)
c.-19T>A (n.-19T>A)
n.1301T>A
n.428T>A
c.888T>A (p.Val296=)
c.618T>A (p.Val206=)
11g.123058829A=CA2005595660HSPA8c.1325T= (p.Val442=)
c.98T= (p.Val33=)
c.1268T= (p.Val423=)
c.-20T= (n.-20T=)
n.1300T=
n.427T=
c.887T= (p.Val296=)
c.617T= (p.Val206=)
11g.123058829A>CCA383057492HSPA8c.1325T>G (p.Val442Gly)
c.98T>G (p.Val33Gly)
c.1268T>G (p.Val423Gly)
c.-20T>G (n.-20T>G)
n.1300T>G
n.427T>G
c.887T>G (p.Val296Gly)
c.617T>G (p.Val206Gly)
11g.123058829A>GCA383057491HSPA8c.1325T>C (p.Val442Ala)
c.98T>C (p.Val33Ala)
c.1268T>C (p.Val423Ala)
c.-20T>C (n.-20T>C)
n.1300T>C
n.427T>C
c.887T>C (p.Val296Ala)
c.617T>C (p.Val206Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.123058829A>TCA383057493HSPA8c.1325T>A (p.Val442Asp)
c.98T>A (p.Val33Asp)
c.1268T>A (p.Val423Asp)
c.-20T>A (n.-20T>A)
n.1300T>A
n.427T>A
c.887T>A (p.Val296Asp)
c.617T>A (p.Val206Asp)
11g.123058830C>ACA383057494HSPA8c.1324G>T (p.Val442Phe)
c.97G>T (p.Val33Phe)
c.1267G>T (p.Val423Phe)
c.-21G>T (n.-21G>T)
n.1299G>T
n.426G>T
c.886G>T (p.Val296Phe)
c.616G>T (p.Val206Phe)
11g.123058830C>GCA383057495HSPA8c.1324G>C (p.Val442Leu)
c.97G>C (p.Val33Leu)
c.1267G>C (p.Val423Leu)
c.-21G>C (n.-21G>C)
n.1299G>C
n.426G>C
c.886G>C (p.Val296Leu)
c.616G>C (p.Val206Leu)
11g.123058830C>TCA383057496HSPA8c.1324G>A (p.Val442Ile)
c.97G>A (p.Val33Ile)
c.1267G>A (p.Val423Ile)
c.-21G>A (n.-21G>A)
n.1299G>A
n.426G>A
c.886G>A (p.Val296Ile)
c.616G>A (p.Val206Ile)
11g.123058831C>ACA383057497HSPA8c.1324-1G>T (n.1324-1G>T)
c.97-1G>T (n.97-1G>T)
c.1267-1G>T (n.1267-1G>T)
c.-22G>T (n.-22G>T)
n.1298G>T
n.426-1G>T
c.886-1G>T (n.886-1G>T)
c.616-1G>T (n.616-1G>T)
11g.123058831C>GCA383057498HSPA8c.1324-1G>C (n.1324-1G>C)
c.97-1G>C (n.97-1G>C)
c.1267-1G>C (n.1267-1G>C)
c.-22G>C (n.-22G>C)
n.1298G>C
n.426-1G>C
c.886-1G>C (n.886-1G>C)
c.616-1G>C (n.616-1G>C)
11g.123058831C>TCA383057499HSPA8c.1324-1G>A (n.1324-1G>A)
c.97-1G>A (n.97-1G>A)
c.1267-1G>A (n.1267-1G>A)
c.-22G>A (n.-22G>A)
n.1298G>A
n.426-1G>A
c.886-1G>A (n.886-1G>A)
c.616-1G>A (n.616-1G>A)
11g.123058832_123058833insGAATAAGCACACCAGGCTGGTTGTCAGAATAGGTAGTGAAGGTCTGTGTCTGCTCA2616532797HSPA8c.1324-1_1324insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.1324-1_1324insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
c.97-1_97insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.97-1_97insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
c.1267-1_1267insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.1267-1_1267insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
c.-22_-21insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.-22_-21insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
n.1298_1299insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG
n.426-1_426insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG
c.886-1_886insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.886-1_886insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
c.616-1_616insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG (n.616-1_616insCAGACACAGACCTTCACTACCTATTCTGACAACCAGCCTGGTGTGCTTATTCAG)
 gnomAD v4

Number of alleles fetched