Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272813dupCA2626127324CCDC88Cc.5902dup (p.Val1968GlyfsTer8)
c.1336dup (p.Val446GlyfsTer8)
c.2130dup
c.5794dup (p.Val1932GlyfsTer8)
c.2983dup (p.Val995GlyfsTer8)
 gnomAD v4
14g.91272813delCA2626127325CCDC88Cc.5902del (p.Val1968SerfsTer?)
c.1336del (p.Val446SerfsTer?)
c.2130del
c.5794del (p.Val1932SerfsTer?)
c.2983del (p.Val995SerfsTer?)
 gnomAD v4
14g.91272813C>ACA390608522CCDC88Cc.5899G>T (p.Gly1967Trp)
c.1333G>T (p.Gly445Trp)
c.2127G>T
c.5791G>T (p.Gly1931Trp)
c.2980G>T (p.Gly994Trp)
 dbSNP gnomAD v4
14g.91272813C=CA2154900498CCDC88Cc.5899G= (p.Gly1967=)
c.1333G= (p.Gly445=)
c.2127G=
c.5791G= (p.Gly1931=)
c.2980G= (p.Gly994=)
14g.91272813C>GCA390608524CCDC88Cc.5899G>C (p.Gly1967Arg)
c.1333G>C (p.Gly445Arg)
c.2127G>C
c.5791G>C (p.Gly1931Arg)
c.2980G>C (p.Gly994Arg)
 gnomAD v4
14g.91272813C>TCA7308565CCDC88Cc.5899G>A (p.Gly1967Arg)
c.1333G>A (p.Gly445Arg)
c.2127G>A
c.5791G>A (p.Gly1931Arg)
c.2980G>A (p.Gly994Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272814delCA2626127364CCDC88Cc.5898del (p.Asp1966GlufsTer?)
c.1332del (p.Asp444GlufsTer?)
c.2126del
c.5790del (p.Asp1930GlufsTer?)
c.2979del (p.Asp993GlufsTer?)
 gnomAD v4
14g.91272814G>ACA7308566CCDC88Cc.5898C>T (p.Asp1966=)
c.1332C>T (p.Asp444=)
c.2126C>T
c.5790C>T (p.Asp1930=)
c.2979C>T (p.Asp993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272814G>CCA390608533CCDC88Cc.5898C>G (p.Asp1966Glu)
c.1332C>G (p.Asp444Glu)
c.2126C>G
c.5790C>G (p.Asp1930Glu)
c.2979C>G (p.Asp993Glu)
14g.91272814G=CA2154900504CCDC88Cc.5898C= (p.Asp1966=)
c.1332C= (p.Asp444=)
c.2126C=
c.5790C= (p.Asp1930=)
c.2979C= (p.Asp993=)
14g.91272814G>TCA390608530CCDC88Cc.5898C>A (p.Asp1966Glu)
c.1332C>A (p.Asp444Glu)
c.2126C>A
c.5790C>A (p.Asp1930Glu)
c.2979C>A (p.Asp993Glu)
 gnomAD v4
14g.91272815T>ACA390608536CCDC88Cc.5897A>T (p.Asp1966Val)
c.1331A>T (p.Asp444Val)
c.2125A>T
c.5789A>T (p.Asp1930Val)
c.2978A>T (p.Asp993Val)
14g.91272815T>CCA390608538CCDC88Cc.5897A>G (p.Asp1966Gly)
c.1331A>G (p.Asp444Gly)
c.2125A>G
c.5789A>G (p.Asp1930Gly)
c.2978A>G (p.Asp993Gly)
14g.91272815T>GCA390608540CCDC88Cc.5897A>C (p.Asp1966Ala)
c.1331A>C (p.Asp444Ala)
c.2125A>C
c.5789A>C (p.Asp1930Ala)
c.2978A>C (p.Asp993Ala)
14g.91272816C>ACA390608544CCDC88Cc.5896G>T (p.Asp1966Tyr)
c.1330G>T (p.Asp444Tyr)
c.2124G>T
c.5788G>T (p.Asp1930Tyr)
c.2977G>T (p.Asp993Tyr)
14g.91272816C>GCA390608546CCDC88Cc.5896G>C (p.Asp1966His)
c.1330G>C (p.Asp444His)
c.2124G>C
c.5788G>C (p.Asp1930His)
c.2977G>C (p.Asp993His)
14g.91272816C>TCA390608547CCDC88Cc.5896G>A (p.Asp1966Asn)
c.1330G>A (p.Asp444Asn)
c.2124G>A
c.5788G>A (p.Asp1930Asn)
c.2977G>A (p.Asp993Asn)
 gnomAD v4
14g.91272819_91272822delCA2626127365CCDC88Cc.5893_5896del (p.Gly1965ThrfsTer?)
c.1327_1330del (p.Gly443ThrfsTer?)
c.2121_2124del
c.5785_5788del (p.Gly1929ThrfsTer?)
c.2974_2977del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272817T>ACA487828668CCDC88Cc.5895A>T (p.Gly1965=)
c.1329A>T (p.Gly443=)
c.2123A>T
c.5787A>T (p.Gly1929=)
c.2976A>T (p.Gly992=)
14g.91272817T>CCA487828671CCDC88Cc.5895A>G (p.Gly1965=)
c.1329A>G (p.Gly443=)
c.2123A>G
c.5787A>G (p.Gly1929=)
c.2976A>G (p.Gly992=)
14g.91272817T>GCA487828669CCDC88Cc.5895A>C (p.Gly1965=)
c.1329A>C (p.Gly443=)
c.2123A>C
c.5787A>C (p.Gly1929=)
c.2976A>C (p.Gly992=)
14g.91272818C>ACA390608550CCDC88Cc.5894G>T (p.Gly1965Val)
c.1328G>T (p.Gly443Val)
c.2122G>T
c.5786G>T (p.Gly1929Val)
c.2975G>T (p.Gly992Val)
14g.91272818C=CA2154900510CCDC88Cc.5894G= (p.Gly1965=)
c.1328G= (p.Gly443=)
c.2122G=
c.5786G= (p.Gly1929=)
c.2975G= (p.Gly992=)
14g.91272818C>GCA390608552CCDC88Cc.5894G>C (p.Gly1965Ala)
c.1328G>C (p.Gly443Ala)
c.2122G>C
c.5786G>C (p.Gly1929Ala)
c.2975G>C (p.Gly992Ala)
 dbSNP
14g.91272818C>TCA390608555CCDC88Cc.5894G>A (p.Gly1965Glu)
c.1328G>A (p.Gly443Glu)
c.2122G>A
c.5786G>A (p.Gly1929Glu)
c.2975G>A (p.Gly992Glu)
 ClinVar
14g.91272819C>ACA390608558CCDC88Cc.5893G>T (p.Gly1965Ter)
c.1327G>T (p.Gly443Ter)
c.2121G>T
c.5785G>T (p.Gly1929Ter)
c.2974G>T (p.Gly992Ter)
14g.91272819C=CA2154900516CCDC88Cc.5893G= (p.Gly1965=)
c.1327G= (p.Gly443=)
c.2121G=
c.5785G= (p.Gly1929=)
c.2974G= (p.Gly992=)
14g.91272819C>GCA390608560CCDC88Cc.5893G>C (p.Gly1965Arg)
c.1327G>C (p.Gly443Arg)
c.2121G>C
c.5785G>C (p.Gly1929Arg)
c.2974G>C (p.Gly992Arg)
14g.91272819C>TCA390608562CCDC88Cc.5893G>A (p.Gly1965Arg)
c.1327G>A (p.Gly443Arg)
c.2121G>A
c.5785G>A (p.Gly1929Arg)
c.2974G>A (p.Gly992Arg)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
14g.91272820C>ACA390608565CCDC88Cc.5892G>T (p.Glu1964Asp)
c.1326G>T (p.Glu442Asp)
c.2120G>T
c.5784G>T (p.Glu1928Asp)
c.2973G>T (p.Glu991Asp)
 gnomAD v4
14g.91272820C=CA2154900520CCDC88Cc.5892G= (p.Glu1964=)
c.1326G= (p.Glu442=)
c.2120G=
c.5784G= (p.Glu1928=)
c.2973G= (p.Glu991=)
14g.91272820C>GCA390608567CCDC88Cc.5892G>C (p.Glu1964Asp)
c.1326G>C (p.Glu442Asp)
c.2120G>C
c.5784G>C (p.Glu1928Asp)
c.2973G>C (p.Glu991Asp)
 dbSNP
14g.91272820C>TCA7308567CCDC88Cc.5892G>A (p.Glu1964=)
c.1326G>A (p.Glu442=)
c.2120G>A
c.5784G>A (p.Glu1928=)
c.2973G>A (p.Glu991=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272820_91272823delCA2626127366CCDC88Cc.5889_5892del (p.Gly1965ThrfsTer?)
c.1323_1326del (p.Gly443ThrfsTer?)
c.2117_2120del
c.5781_5784del (p.Gly1929ThrfsTer?)
c.2970_2973del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272821T>ACA390608570CCDC88Cc.5891A>T (p.Glu1964Val)
c.1325A>T (p.Glu442Val)
c.2119A>T
c.5783A>T (p.Glu1928Val)
c.2972A>T (p.Glu991Val)
14g.91272821T>CCA390608572CCDC88Cc.5891A>G (p.Glu1964Gly)
c.1325A>G (p.Glu442Gly)
c.2119A>G
c.5783A>G (p.Glu1928Gly)
c.2972A>G (p.Glu991Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91272821T>GCA390608575CCDC88Cc.5891A>C (p.Glu1964Ala)
c.1325A>C (p.Glu442Ala)
c.2119A>C
c.5783A>C (p.Glu1928Ala)
c.2972A>C (p.Glu991Ala)
14g.91272821T=CA2154900525CCDC88Cc.5891A= (p.Glu1964=)
c.1325A= (p.Glu442=)
c.2119A=
c.5783A= (p.Glu1928=)
c.2972A= (p.Glu991=)
14g.91272822C>ACA390608577CCDC88Cc.5890G>T (p.Glu1964Ter)
c.1324G>T (p.Glu442Ter)
c.2118G>T
c.5782G>T (p.Glu1928Ter)
c.2971G>T (p.Glu991Ter)
 gnomAD v4
14g.91272822C>GCA390608579CCDC88Cc.5890G>C (p.Glu1964Gln)
c.1324G>C (p.Glu442Gln)
c.2118G>C
c.5782G>C (p.Glu1928Gln)
c.2971G>C (p.Glu991Gln)
14g.91272822C>TCA390608582CCDC88Cc.5890G>A (p.Glu1964Lys)
c.1324G>A (p.Glu442Lys)
c.2118G>A
c.5782G>A (p.Glu1928Lys)
c.2971G>A (p.Glu991Lys)
14g.91272823T>ACA487828679CCDC88Cc.5889A>T (p.Ser1963=)
c.1323A>T (p.Ser441=)
c.2117A>T
c.5781A>T (p.Ser1927=)
c.2970A>T (p.Ser990=)
14g.91272823T>CCA487828681CCDC88Cc.5889A>G (p.Ser1963=)
c.1323A>G (p.Ser441=)
c.2117A>G
c.5781A>G (p.Ser1927=)
c.2970A>G (p.Ser990=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272823T>GCA487828680CCDC88Cc.5889A>C (p.Ser1963=)
c.1323A>C (p.Ser441=)
c.2117A>C
c.5781A>C (p.Ser1927=)
c.2970A>C (p.Ser990=)
14g.91272823T=CA2154900543CCDC88Cc.5889A= (p.Ser1963=)
c.1323A= (p.Ser441=)
c.2117A=
c.5781A= (p.Ser1927=)
c.2970A= (p.Ser990=)
14g.91272824G>ACA390608589CCDC88Cc.5888C>T (p.Ser1963Leu)
c.1322C>T (p.Ser441Leu)
c.2116C>T
c.5780C>T (p.Ser1927Leu)
c.2969C>T (p.Ser990Leu)
 dbSNP COSMIC COSMIC COSMIC
14g.91272824G>CCA390608586CCDC88Cc.5888C>G (p.Ser1963Ter)
c.1322C>G (p.Ser441Ter)
c.2116C>G
c.5780C>G (p.Ser1927Ter)
c.2969C>G (p.Ser990Ter)
14g.91272824G=CA2154900552CCDC88Cc.5888C= (p.Ser1963=)
c.1322C= (p.Ser441=)
c.2116C=
c.5780C= (p.Ser1927=)
c.2969C= (p.Ser990=)
14g.91272824G>TCA390608588CCDC88Cc.5888C>A (p.Ser1963Ter)
c.1322C>A (p.Ser441Ter)
c.2116C>A
c.5780C>A (p.Ser1927Ter)
c.2969C>A (p.Ser990Ter)
 dbSNP gnomAD v3 gnomAD v4
14g.91272825A>CCA390608592CCDC88Cc.5887T>G (p.Ser1963Ala)
c.1321T>G (p.Ser441Ala)
c.2115T>G
c.5779T>G (p.Ser1927Ala)
c.2968T>G (p.Ser990Ala)
14g.91272825A>GCA390608594CCDC88Cc.5887T>C (p.Ser1963Pro)
c.1321T>C (p.Ser441Pro)
c.2115T>C
c.5779T>C (p.Ser1927Pro)
c.2968T>C (p.Ser990Pro)
 gnomAD v4
14g.91272825A>TCA390608598CCDC88Cc.5887T>A (p.Ser1963Thr)
c.1321T>A (p.Ser441Thr)
c.2115T>A
c.5779T>A (p.Ser1927Thr)
c.2968T>A (p.Ser990Thr)
14g.91272826G>ACA487828683CCDC88Cc.5886C>T (p.Leu1962=)
c.1320C>T (p.Leu440=)
c.2114C>T
c.5778C>T (p.Leu1926=)
c.2967C>T (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272826G>CCA487828684CCDC88Cc.5886C>G (p.Leu1962=)
c.1320C>G (p.Leu440=)
c.2114C>G
c.5778C>G (p.Leu1926=)
c.2967C>G (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272826G=CA2154900559CCDC88Cc.5886C= (p.Leu1962=)
c.1320C= (p.Leu440=)
c.2114C=
c.5778C= (p.Leu1926=)
c.2967C= (p.Leu989=)
14g.91272826G>TCA487828686CCDC88Cc.5886C>A (p.Leu1962=)
c.1320C>A (p.Leu440=)
c.2114C>A
c.5778C>A (p.Leu1926=)
c.2967C>A (p.Leu989=)
 gnomAD v4
14g.91272827A>CCA390608601CCDC88Cc.5885T>G (p.Leu1962Arg)
c.1319T>G (p.Leu440Arg)
c.2113T>G
c.5777T>G (p.Leu1926Arg)
c.2966T>G (p.Leu989Arg)
14g.91272827A>GCA390608602CCDC88Cc.5885T>C (p.Leu1962Pro)
c.1319T>C (p.Leu440Pro)
c.2113T>C
c.5777T>C (p.Leu1926Pro)
c.2966T>C (p.Leu989Pro)
14g.91272827A>TCA390608605CCDC88Cc.5885T>A (p.Leu1962His)
c.1319T>A (p.Leu440His)
c.2113T>A
c.5777T>A (p.Leu1926His)
c.2966T>A (p.Leu989His)
 gnomAD v4
14g.91272828G>ACA265517376CCDC88Cc.5884C>T (p.Leu1962Phe)
c.1318C>T (p.Leu440Phe)
c.2112C>T
c.5776C>T (p.Leu1926Phe)
c.2965C>T (p.Leu989Phe)
 dbSNP gnomAD v4
14g.91272828G>CCA390608611CCDC88Cc.5884C>G (p.Leu1962Val)
c.1318C>G (p.Leu440Val)
c.2112C>G
c.5776C>G (p.Leu1926Val)
c.2965C>G (p.Leu989Val)
14g.91272828G=CA2154900567CCDC88Cc.5884C= (p.Leu1962=)
c.1318C= (p.Leu440=)
c.2112C=
c.5776C= (p.Leu1926=)
c.2965C= (p.Leu989=)
14g.91272828G>TCA7308568CCDC88Cc.5884C>A (p.Leu1962Ile)
c.1318C>A (p.Leu440Ile)
c.2112C>A
c.5776C>A (p.Leu1926Ile)
c.2965C>A (p.Leu989Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272829G>ACA487828689CCDC88Cc.5883C>T (p.Ser1961=)
c.1317C>T (p.Ser439=)
c.2111C>T
c.5775C>T (p.Ser1925=)
c.2964C>T (p.Ser988=)
 gnomAD v4
14g.91272829G>CCA390608614CCDC88Cc.5883C>G (p.Ser1961Arg)
c.1317C>G (p.Ser439Arg)
c.2111C>G
c.5775C>G (p.Ser1925Arg)
c.2964C>G (p.Ser988Arg)
14g.91272829G>TCA390608616CCDC88Cc.5883C>A (p.Ser1961Arg)
c.1317C>A (p.Ser439Arg)
c.2111C>A
c.5775C>A (p.Ser1925Arg)
c.2964C>A (p.Ser988Arg)
 ClinVar gnomAD v4
14g.91272830C>ACA390608620CCDC88Cc.5882G>T (p.Ser1961Ile)
c.1316G>T (p.Ser439Ile)
c.2110G>T
c.5774G>T (p.Ser1925Ile)
c.2963G>T (p.Ser988Ile)
 gnomAD v4
14g.91272830C>GCA390608622CCDC88Cc.5882G>C (p.Ser1961Thr)
c.1316G>C (p.Ser439Thr)
c.2110G>C
c.5774G>C (p.Ser1925Thr)
c.2963G>C (p.Ser988Thr)
14g.91272830C>TCA390608624CCDC88Cc.5882G>A (p.Ser1961Asn)
c.1316G>A (p.Ser439Asn)
c.2110G>A
c.5774G>A (p.Ser1925Asn)
c.2963G>A (p.Ser988Asn)
 gnomAD v4
14g.91272831T>ACA390608626CCDC88Cc.5881A>T (p.Ser1961Cys)
c.1315A>T (p.Ser439Cys)
c.2109A>T
c.5773A>T (p.Ser1925Cys)
c.2962A>T (p.Ser988Cys)
14g.91272831T>CCA390608628CCDC88Cc.5881A>G (p.Ser1961Gly)
c.1315A>G (p.Ser439Gly)
c.2109A>G
c.5773A>G (p.Ser1925Gly)
c.2962A>G (p.Ser988Gly)
 gnomAD v4
14g.91272831T>GCA390608630CCDC88Cc.5881A>C (p.Ser1961Arg)
c.1315A>C (p.Ser439Arg)
c.2109A>C
c.5773A>C (p.Ser1925Arg)
c.2962A>C (p.Ser988Arg)
14g.91272832G>ACA487828697CCDC88Cc.5880C>T (p.Leu1960=)
c.1314C>T (p.Leu438=)
c.2108C>T
c.5772C>T (p.Leu1924=)
c.2961C>T (p.Leu987=)
 gnomAD v4
14g.91272832G>CCA487828694CCDC88Cc.5880C>G (p.Leu1960=)
c.1314C>G (p.Leu438=)
c.2108C>G
c.5772C>G (p.Leu1924=)
c.2961C>G (p.Leu987=)
14g.91272832G>TCA487828695CCDC88Cc.5880C>A (p.Leu1960=)
c.1314C>A (p.Leu438=)
c.2108C>A
c.5772C>A (p.Leu1924=)
c.2961C>A (p.Leu987=)
 gnomAD v4
14g.91272833A>CCA390608632CCDC88Cc.5879T>G (p.Leu1960Arg)
c.1313T>G (p.Leu438Arg)
c.2107T>G
c.5771T>G (p.Leu1924Arg)
c.2960T>G (p.Leu987Arg)
14g.91272833A>GCA390608633CCDC88Cc.5879T>C (p.Leu1960Pro)
c.1313T>C (p.Leu438Pro)
c.2107T>C
c.5771T>C (p.Leu1924Pro)
c.2960T>C (p.Leu987Pro)
14g.91272833A>TCA390608636CCDC88Cc.5879T>A (p.Leu1960His)
c.1313T>A (p.Leu438His)
c.2107T>A
c.5771T>A (p.Leu1924His)
c.2960T>A (p.Leu987His)
14g.91272834G>ACA390608640CCDC88Cc.5878C>T (p.Leu1960Phe)
c.1312C>T (p.Leu438Phe)
c.2106C>T
c.5770C>T (p.Leu1924Phe)
c.2959C>T (p.Leu987Phe)
 dbSNP gnomAD v2 gnomAD v4
14g.91272834G>CCA390608642CCDC88Cc.5878C>G (p.Leu1960Val)
c.1312C>G (p.Leu438Val)
c.2106C>G
c.5770C>G (p.Leu1924Val)
c.2959C>G (p.Leu987Val)
14g.91272834G=CA2154900570CCDC88Cc.5878C= (p.Leu1960=)
c.1312C= (p.Leu438=)
c.2106C=
c.5770C= (p.Leu1924=)
c.2959C= (p.Leu987=)
14g.91272834G>TCA390608644CCDC88Cc.5878C>A (p.Leu1960Ile)
c.1312C>A (p.Leu438Ile)
c.2106C>A
c.5770C>A (p.Leu1924Ile)
c.2959C>A (p.Leu987Ile)
 gnomAD v4
14g.91272835C>ACA487828698CCDC88Cc.5877G>T (p.Gly1959=)
c.1311G>T (p.Gly437=)
c.2105G>T
c.5769G>T (p.Gly1923=)
c.2958G>T (p.Gly986=)
 gnomAD v4
14g.91272835C=CA2154900573CCDC88Cc.5877G= (p.Gly1959=)
c.1311G= (p.Gly437=)
c.2105G=
c.5769G= (p.Gly1923=)
c.2958G= (p.Gly986=)
14g.91272835C>GCA487828700CCDC88Cc.5877G>C (p.Gly1959=)
c.1311G>C (p.Gly437=)
c.2105G>C
c.5769G>C (p.Gly1923=)
c.2958G>C (p.Gly986=)
14g.91272835C>TCA487828703CCDC88Cc.5877G>A (p.Gly1959=)
c.1311G>A (p.Gly437=)
c.2105G>A
c.5769G>A (p.Gly1923=)
c.2958G>A (p.Gly986=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272836C>ACA390608651CCDC88Cc.5876G>T (p.Gly1959Val)
c.1310G>T (p.Gly437Val)
c.2104G>T
c.5768G>T (p.Gly1923Val)
c.2957G>T (p.Gly986Val)
14g.91272836C>GCA390608649CCDC88Cc.5876G>C (p.Gly1959Ala)
c.1310G>C (p.Gly437Ala)
c.2104G>C
c.5768G>C (p.Gly1923Ala)
c.2957G>C (p.Gly986Ala)
14g.91272836C>TCA390608647CCDC88Cc.5876G>A (p.Gly1959Glu)
c.1310G>A (p.Gly437Glu)
c.2104G>A
c.5768G>A (p.Gly1923Glu)
c.2957G>A (p.Gly986Glu)
14g.91272837C>ACA390608653CCDC88Cc.5875G>T (p.Gly1959Trp)
c.1309G>T (p.Gly437Trp)
c.2103G>T
c.5767G>T (p.Gly1923Trp)
c.2956G>T (p.Gly986Trp)
 gnomAD v4
14g.91272837C>GCA390608655CCDC88Cc.5875G>C (p.Gly1959Arg)
c.1309G>C (p.Gly437Arg)
c.2103G>C
c.5767G>C (p.Gly1923Arg)
c.2956G>C (p.Gly986Arg)
14g.91272837C>TCA390608658CCDC88Cc.5875G>A (p.Gly1959Arg)
c.1309G>A (p.Gly437Arg)
c.2103G>A
c.5767G>A (p.Gly1923Arg)
c.2956G>A (p.Gly986Arg)
 gnomAD v4
14g.91272838T>ACA487828705CCDC88Cc.5874A>T (p.Ala1958=)
c.1308A>T (p.Ala436=)
c.2102A>T
c.5766A>T (p.Ala1922=)
c.2955A>T (p.Ala985=)
 gnomAD v4
14g.91272838T>CCA487828706CCDC88Cc.5874A>G (p.Ala1958=)
c.1308A>G (p.Ala436=)
c.2102A>G
c.5766A>G (p.Ala1922=)
c.2955A>G (p.Ala985=)
 gnomAD v4
14g.91272838T>GCA487828707CCDC88Cc.5874A>C (p.Ala1958=)
c.1308A>C (p.Ala436=)
c.2102A>C
c.5766A>C (p.Ala1922=)
c.2955A>C (p.Ala985=)
14g.91272839G>ACA390608661CCDC88Cc.5873C>T (p.Ala1958Val)
c.1307C>T (p.Ala436Val)
c.2101C>T
c.5765C>T (p.Ala1922Val)
c.2954C>T (p.Ala985Val)
 gnomAD v4
14g.91272839G>CCA390608663CCDC88Cc.5873C>G (p.Ala1958Gly)
c.1307C>G (p.Ala436Gly)
c.2101C>G
c.5765C>G (p.Ala1922Gly)
c.2954C>G (p.Ala985Gly)
14g.91272839G=CA2154900577CCDC88Cc.5873C= (p.Ala1958=)
c.1307C= (p.Ala436=)
c.2101C=
c.5765C= (p.Ala1922=)
c.2954C= (p.Ala985=)
14g.91272839G>TCA390608665CCDC88Cc.5873C>A (p.Ala1958Glu)
c.1307C>A (p.Ala436Glu)
c.2101C>A
c.5765C>A (p.Ala1922Glu)
c.2954C>A (p.Ala985Glu)
 dbSNP gnomAD v4
14g.91272840C>ACA390608669CCDC88Cc.5872G>T (p.Ala1958Ser)
c.1306G>T (p.Ala436Ser)
c.2100G>T
c.5764G>T (p.Ala1922Ser)
c.2953G>T (p.Ala985Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.91272840C=CA2154900583CCDC88Cc.5872G= (p.Ala1958=)
c.1306G= (p.Ala436=)
c.2100G=
c.5764G= (p.Ala1922=)
c.2953G= (p.Ala985=)
14g.91272840C>GCA390608671CCDC88Cc.5872G>C (p.Ala1958Pro)
c.1306G>C (p.Ala436Pro)
c.2100G>C
c.5764G>C (p.Ala1922Pro)
c.2953G>C (p.Ala985Pro)
14g.91272840C>TCA390608674CCDC88Cc.5872G>A (p.Ala1958Thr)
c.1306G>A (p.Ala436Thr)
c.2100G>A
c.5764G>A (p.Ala1922Thr)
c.2953G>A (p.Ala985Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.91272841C>ACA487828712CCDC88Cc.5871G>T (p.Arg1957=)
c.1305G>T (p.Arg435=)
c.2099G>T
c.5763G>T (p.Arg1921=)
c.2952G>T (p.Arg984=)
 gnomAD v4
14g.91272841C>GCA487828713CCDC88Cc.5871G>C (p.Arg1957=)
c.1305G>C (p.Arg435=)
c.2099G>C
c.5763G>C (p.Arg1921=)
c.2952G>C (p.Arg984=)
14g.91272841C>TCA487828714CCDC88Cc.5871G>A (p.Arg1957=)
c.1305G>A (p.Arg435=)
c.2099G>A
c.5763G>A (p.Arg1921=)
c.2952G>A (p.Arg984=)
14g.91272842C>ACA390608676CCDC88Cc.5870G>T (p.Arg1957Leu)
c.1304G>T (p.Arg435Leu)
c.2098G>T
c.5762G>T (p.Arg1921Leu)
c.2951G>T (p.Arg984Leu)
 gnomAD v4
14g.91272842C=CA2154900589CCDC88Cc.5870G= (p.Arg1957=)
c.1304G= (p.Arg435=)
c.2098G=
c.5762G= (p.Arg1921=)
c.2951G= (p.Arg984=)
14g.91272842C>GCA390608678CCDC88Cc.5870G>C (p.Arg1957Pro)
c.1304G>C (p.Arg435Pro)
c.2098G>C
c.5762G>C (p.Arg1921Pro)
c.2951G>C (p.Arg984Pro)
 gnomAD v4
14g.91272842C>TCA7308569CCDC88Cc.5870G>A (p.Arg1957Gln)
c.1304G>A (p.Arg435Gln)
c.2098G>A
c.5762G>A (p.Arg1921Gln)
c.2951G>A (p.Arg984Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272843G>ACA7308570CCDC88Cc.5869C>T (p.Arg1957Trp)
c.1303C>T (p.Arg435Trp)
c.2097C>T
c.5761C>T (p.Arg1921Trp)
c.2950C>T (p.Arg984Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272843G>CCA390608684CCDC88Cc.5869C>G (p.Arg1957Gly)
c.1303C>G (p.Arg435Gly)
c.2097C>G
c.5761C>G (p.Arg1921Gly)
c.2950C>G (p.Arg984Gly)
 dbSNP
14g.91272843G=CA2154900591CCDC88Cc.5869C= (p.Arg1957=)
c.1303C= (p.Arg435=)
c.2097C=
c.5761C= (p.Arg1921=)
c.2950C= (p.Arg984=)
14g.91272843G>TCA487828715CCDC88Cc.5869C>A (p.Arg1957=)
c.1303C>A (p.Arg435=)
c.2097C>A
c.5761C>A (p.Arg1921=)
c.2950C>A (p.Arg984=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272844G>ACA487828717CCDC88Cc.5868C>T (p.Val1956=)
c.1302C>T (p.Val434=)
c.2096C>T
c.5760C>T (p.Val1920=)
c.2949C>T (p.Val983=)
14g.91272844G>CCA487828718CCDC88Cc.5868C>G (p.Val1956=)
c.1302C>G (p.Val434=)
c.2096C>G
c.5760C>G (p.Val1920=)
c.2949C>G (p.Val983=)
14g.91272844G>TCA487828720CCDC88Cc.5868C>A (p.Val1956=)
c.1302C>A (p.Val434=)
c.2096C>A
c.5760C>A (p.Val1920=)
c.2949C>A (p.Val983=)
 gnomAD v4
14g.91272845A=CA2154900593CCDC88Cc.5867T= (p.Val1956=)
c.1301T= (p.Val434=)
c.2095T=
c.5759T= (p.Val1920=)
c.2948T= (p.Val983=)
14g.91272845A>CCA390608689CCDC88Cc.5867T>G (p.Val1956Gly)
c.1301T>G (p.Val434Gly)
c.2095T>G
c.5759T>G (p.Val1920Gly)
c.2948T>G (p.Val983Gly)
14g.91272845A>GCA390608691CCDC88Cc.5867T>C (p.Val1956Ala)
c.1301T>C (p.Val434Ala)
c.2095T>C
c.5759T>C (p.Val1920Ala)
c.2948T>C (p.Val983Ala)
14g.91272845A>TCA390608688CCDC88Cc.5867T>A (p.Val1956Asp)
c.1301T>A (p.Val434Asp)
c.2095T>A
c.5759T>A (p.Val1920Asp)
c.2948T>A (p.Val983Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.91272846C>ACA390608694CCDC88Cc.5866G>T (p.Val1956Phe)
c.1300G>T (p.Val434Phe)
c.2094G>T
c.5758G>T (p.Val1920Phe)
c.2947G>T (p.Val983Phe)
 gnomAD v4
14g.91272846C>GCA390608696CCDC88Cc.5866G>C (p.Val1956Leu)
c.1300G>C (p.Val434Leu)
c.2094G>C
c.5758G>C (p.Val1920Leu)
c.2947G>C (p.Val983Leu)
14g.91272846C>TCA390608698CCDC88Cc.5866G>A (p.Val1956Ile)
c.1300G>A (p.Val434Ile)
c.2094G>A
c.5758G>A (p.Val1920Ile)
c.2947G>A (p.Val983Ile)
 gnomAD v4
14g.91272847A>CCA487828724CCDC88Cc.5865T>G (p.Pro1955=)
c.1299T>G (p.Pro433=)
c.2093T>G
c.5757T>G (p.Pro1919=)
c.2946T>G (p.Pro982=)
14g.91272847A>GCA487828726CCDC88Cc.5865T>C (p.Pro1955=)
c.1299T>C (p.Pro433=)
c.2093T>C
c.5757T>C (p.Pro1919=)
c.2946T>C (p.Pro982=)
 gnomAD v4
14g.91272847A>TCA487828727CCDC88Cc.5865T>A (p.Pro1955=)
c.1299T>A (p.Pro433=)
c.2093T>A
c.5757T>A (p.Pro1919=)
c.2946T>A (p.Pro982=)
 gnomAD v4
14g.91272848G>ACA390608701CCDC88Cc.5864C>T (p.Pro1955Leu)
c.1298C>T (p.Pro433Leu)
c.2092C>T
c.5756C>T (p.Pro1919Leu)
c.2945C>T (p.Pro982Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91272848G>CCA390608703CCDC88Cc.5864C>G (p.Pro1955Arg)
c.1298C>G (p.Pro433Arg)
c.2092C>G
c.5756C>G (p.Pro1919Arg)
c.2945C>G (p.Pro982Arg)
14g.91272848G=CA2154900595CCDC88Cc.5864C= (p.Pro1955=)
c.1298C= (p.Pro433=)
c.2092C=
c.5756C= (p.Pro1919=)
c.2945C= (p.Pro982=)
14g.91272848G>TCA390608706CCDC88Cc.5864C>A (p.Pro1955His)
c.1298C>A (p.Pro433His)
c.2092C>A
c.5756C>A (p.Pro1919His)
c.2945C>A (p.Pro982His)
 gnomAD v4
14g.91272851delCA2626127414CCDC88Cc.5864del (p.Pro1955LeufsTer?)
c.1298del (p.Pro433LeufsTer?)
c.2092del
c.5756del (p.Pro1919LeufsTer?)
c.2945del (p.Pro982LeufsTer?)
 gnomAD v4
14g.91272849G>ACA390608709CCDC88Cc.5863C>T (p.Pro1955Ser)
c.1297C>T (p.Pro433Ser)
c.2091C>T
c.5755C>T (p.Pro1919Ser)
c.2944C>T (p.Pro982Ser)
 gnomAD v4
14g.91272849G>CCA265517398CCDC88Cc.5863C>G (p.Pro1955Ala)
c.1297C>G (p.Pro433Ala)
c.2091C>G
c.5755C>G (p.Pro1919Ala)
c.2944C>G (p.Pro982Ala)
 dbSNP gnomAD v4
14g.91272849G=CA2154900600CCDC88Cc.5863C= (p.Pro1955=)
c.1297C= (p.Pro433=)
c.2091C=
c.5755C= (p.Pro1919=)
c.2944C= (p.Pro982=)
14g.91272849G>TCA390608713CCDC88Cc.5863C>A (p.Pro1955Thr)
c.1297C>A (p.Pro433Thr)
c.2091C>A
c.5755C>A (p.Pro1919Thr)
c.2944C>A (p.Pro982Thr)
 gnomAD v4
14g.91272850G>ACA487828732CCDC88Cc.5862C>T (p.Thr1954=)
c.1296C>T (p.Thr432=)
c.2090C>T
c.5754C>T (p.Thr1918=)
c.2943C>T (p.Thr981=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272850G>CCA487828733CCDC88Cc.5862C>G (p.Thr1954=)
c.1296C>G (p.Thr432=)
c.2090C>G
c.5754C>G (p.Thr1918=)
c.2943C>G (p.Thr981=)
14g.91272850G=CA2154900603CCDC88Cc.5862C= (p.Thr1954=)
c.1296C= (p.Thr432=)
c.2090C=
c.5754C= (p.Thr1918=)
c.2943C= (p.Thr981=)
14g.91272850G>TCA487828734CCDC88Cc.5862C>A (p.Thr1954=)
c.1296C>A (p.Thr432=)
c.2090C>A
c.5754C>A (p.Thr1918=)
c.2943C>A (p.Thr981=)
 gnomAD v4
14g.91272851G>ACA390608716CCDC88Cc.5861C>T (p.Thr1954Ile)
c.1295C>T (p.Thr432Ile)
c.2089C>T
c.5753C>T (p.Thr1918Ile)
c.2942C>T (p.Thr981Ile)
 gnomAD v4
14g.91272851G>CCA390608718CCDC88Cc.5861C>G (p.Thr1954Ser)
c.1295C>G (p.Thr432Ser)
c.2089C>G
c.5753C>G (p.Thr1918Ser)
c.2942C>G (p.Thr981Ser)
14g.91272851G=CA2154900604CCDC88Cc.5861C= (p.Thr1954=)
c.1295C= (p.Thr432=)
c.2089C=
c.5753C= (p.Thr1918=)
c.2942C= (p.Thr981=)
14g.91272851G>TCA7308571CCDC88Cc.5861C>A (p.Thr1954Asn)
c.1295C>A (p.Thr432Asn)
c.2089C>A
c.5753C>A (p.Thr1918Asn)
c.2942C>A (p.Thr981Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272852T>ACA390608725CCDC88Cc.5860A>T (p.Thr1954Ser)
c.1294A>T (p.Thr432Ser)
c.2088A>T
c.5752A>T (p.Thr1918Ser)
c.2941A>T (p.Thr981Ser)
14g.91272852T>CCA390608728CCDC88Cc.5860A>G (p.Thr1954Ala)
c.1294A>G (p.Thr432Ala)
c.2088A>G
c.5752A>G (p.Thr1918Ala)
c.2941A>G (p.Thr981Ala)
 gnomAD v4
14g.91272852T>GCA390608723CCDC88Cc.5860A>C (p.Thr1954Pro)
c.1294A>C (p.Thr432Pro)
c.2088A>C
c.5752A>C (p.Thr1918Pro)
c.2941A>C (p.Thr981Pro)
14g.91272853G>ACA487828742CCDC88Cc.5859C>T (p.Ile1953=)
c.1293C>T (p.Ile431=)
c.2087C>T
c.5751C>T (p.Ile1917=)
c.2940C>T (p.Ile980=)
14g.91272853G>CCA390608730CCDC88Cc.5859C>G (p.Ile1953Met)
c.1293C>G (p.Ile431Met)
c.2087C>G
c.5751C>G (p.Ile1917Met)
c.2940C>G (p.Ile980Met)
14g.91272853G>TCA487828739CCDC88Cc.5859C>A (p.Ile1953=)
c.1293C>A (p.Ile431=)
c.2087C>A
c.5751C>A (p.Ile1917=)
c.2940C>A (p.Ile980=)
 gnomAD v4
14g.91272854A>CCA390608733CCDC88Cc.5858T>G (p.Ile1953Ser)
c.1292T>G (p.Ile431Ser)
c.2086T>G
c.5750T>G (p.Ile1917Ser)
c.2939T>G (p.Ile980Ser)
14g.91272854A>GCA390608735CCDC88Cc.5858T>C (p.Ile1953Thr)
c.1292T>C (p.Ile431Thr)
c.2086T>C
c.5750T>C (p.Ile1917Thr)
c.2939T>C (p.Ile980Thr)
 gnomAD v4
14g.91272854A>TCA390608738CCDC88Cc.5858T>A (p.Ile1953Asn)
c.1292T>A (p.Ile431Asn)
c.2086T>A
c.5750T>A (p.Ile1917Asn)
c.2939T>A (p.Ile980Asn)
14g.91272855T>ACA390608746CCDC88Cc.5857A>T (p.Ile1953Phe)
c.1291A>T (p.Ile431Phe)
c.2085A>T
c.5749A>T (p.Ile1917Phe)
c.2938A>T (p.Ile980Phe)
14g.91272855T>CCA390608744CCDC88Cc.5857A>G (p.Ile1953Val)
c.1291A>G (p.Ile431Val)
c.2085A>G
c.5749A>G (p.Ile1917Val)
c.2938A>G (p.Ile980Val)
 dbSNP gnomAD v2 gnomAD v4
14g.91272855T>GCA390608742CCDC88Cc.5857A>C (p.Ile1953Leu)
c.1291A>C (p.Ile431Leu)
c.2085A>C
c.5749A>C (p.Ile1917Leu)
c.2938A>C (p.Ile980Leu)
14g.91272855T=CA2154900607CCDC88Cc.5857A= (p.Ile1953=)
c.1291A= (p.Ile431=)
c.2085A=
c.5749A= (p.Ile1917=)
c.2938A= (p.Ile980=)
14g.91272856G>ACA487828747CCDC88Cc.5856C>T (p.Thr1952=)
c.1290C>T (p.Thr430=)
c.2084C>T
c.5748C>T (p.Thr1916=)
c.2937C>T (p.Thr979=)
 dbSNP gnomAD v3 gnomAD v4
14g.91272856G>CCA487828748CCDC88Cc.5856C>G (p.Thr1952=)
c.1290C>G (p.Thr430=)
c.2084C>G
c.5748C>G (p.Thr1916=)
c.2937C>G (p.Thr979=)
14g.91272856G=CA2154900613CCDC88Cc.5856C= (p.Thr1952=)
c.1290C= (p.Thr430=)
c.2084C=
c.5748C= (p.Thr1916=)
c.2937C= (p.Thr979=)
14g.91272856G>TCA487828749CCDC88Cc.5856C>A (p.Thr1952=)
c.1290C>A (p.Thr430=)
c.2084C>A
c.5748C>A (p.Thr1916=)
c.2937C>A (p.Thr979=)
 gnomAD v4
14g.91272857G>ACA390608749CCDC88Cc.5855C>T (p.Thr1952Ile)
c.1289C>T (p.Thr430Ile)
c.2083C>T
c.5747C>T (p.Thr1916Ile)
c.2936C>T (p.Thr979Ile)
 gnomAD v4
14g.91272857G>CCA390608750CCDC88Cc.5855C>G (p.Thr1952Ser)
c.1289C>G (p.Thr430Ser)
c.2083C>G
c.5747C>G (p.Thr1916Ser)
c.2936C>G (p.Thr979Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91272857G=CA2154900615CCDC88Cc.5855C= (p.Thr1952=)
c.1289C= (p.Thr430=)
c.2083C=
c.5747C= (p.Thr1916=)
c.2936C= (p.Thr979=)
14g.91272857G>TCA390608751CCDC88Cc.5855C>A (p.Thr1952Asn)
c.1289C>A (p.Thr430Asn)
c.2083C>A
c.5747C>A (p.Thr1916Asn)
c.2936C>A (p.Thr979Asn)
14g.91272858T>ACA390608755CCDC88Cc.5854A>T (p.Thr1952Ser)
c.1288A>T (p.Thr430Ser)
c.2082A>T
c.5746A>T (p.Thr1916Ser)
c.2935A>T (p.Thr979Ser)
14g.91272858T>CCA390608757CCDC88Cc.5854A>G (p.Thr1952Ala)
c.1288A>G (p.Thr430Ala)
c.2082A>G
c.5746A>G (p.Thr1916Ala)
c.2935A>G (p.Thr979Ala)
14g.91272858T>GCA390608759CCDC88Cc.5854A>C (p.Thr1952Pro)
c.1288A>C (p.Thr430Pro)
c.2082A>C
c.5746A>C (p.Thr1916Pro)
c.2935A>C (p.Thr979Pro)
14g.91272859G>ACA487828590CCDC88Cc.5853C>T (p.Ala1951=)
c.1287C>T (p.Ala429=)
c.2081C>T
c.5745C>T (p.Ala1915=)
c.2934C>T (p.Ala978=)
 gnomAD v4
14g.91272859G>CCA487828588CCDC88Cc.5853C>G (p.Ala1951=)
c.1287C>G (p.Ala429=)
c.2081C>G
c.5745C>G (p.Ala1915=)
c.2934C>G (p.Ala978=)
14g.91272859G>TCA487828589CCDC88Cc.5853C>A (p.Ala1951=)
c.1287C>A (p.Ala429=)
c.2081C>A
c.5745C>A (p.Ala1915=)
c.2934C>A (p.Ala978=)
 gnomAD v4
14g.91272860G>ACA390608763CCDC88Cc.5852C>T (p.Ala1951Val)
c.1286C>T (p.Ala429Val)
c.2080C>T
c.5744C>T (p.Ala1915Val)
c.2933C>T (p.Ala978Val)
 gnomAD v4
14g.91272860G>CCA390608766CCDC88Cc.5852C>G (p.Ala1951Gly)
c.1286C>G (p.Ala429Gly)
c.2080C>G
c.5744C>G (p.Ala1915Gly)
c.2933C>G (p.Ala978Gly)
14g.91272860G>TCA390608764CCDC88Cc.5852C>A (p.Ala1951Asp)
c.1286C>A (p.Ala429Asp)
c.2080C>A
c.5744C>A (p.Ala1915Asp)
c.2933C>A (p.Ala978Asp)
 gnomAD v4
14g.91272861C>ACA390608769CCDC88Cc.5851G>T (p.Ala1951Ser)
c.1285G>T (p.Ala429Ser)
c.2079G>T
c.5743G>T (p.Ala1915Ser)
c.2932G>T (p.Ala978Ser)
 gnomAD v4
14g.91272861C>GCA390608773CCDC88Cc.5851G>C (p.Ala1951Pro)
c.1285G>C (p.Ala429Pro)
c.2079G>C
c.5743G>C (p.Ala1915Pro)
c.2932G>C (p.Ala978Pro)
14g.91272861C>TCA390608771CCDC88Cc.5851G>A (p.Ala1951Thr)
c.1285G>A (p.Ala429Thr)
c.2079G>A
c.5743G>A (p.Ala1915Thr)
c.2932G>A (p.Ala978Thr)
 gnomAD v4
14g.91272862C>ACA487828597CCDC88Cc.5850G>T (p.Val1950=)
c.1284G>T (p.Val428=)
c.2078G>T
c.5742G>T (p.Val1914=)
c.2931G>T (p.Val977=)
14g.91272862C>GCA487828598CCDC88Cc.5850G>C (p.Val1950=)
c.1284G>C (p.Val428=)
c.2078G>C
c.5742G>C (p.Val1914=)
c.2931G>C (p.Val977=)
14g.91272862C>TCA487828599CCDC88Cc.5850G>A (p.Val1950=)
c.1284G>A (p.Val428=)
c.2078G>A
c.5742G>A (p.Val1914=)
c.2931G>A (p.Val977=)
 gnomAD v4
14g.91272863A>CCA390608776CCDC88Cc.5849T>G (p.Val1950Gly)
c.1283T>G (p.Val428Gly)
c.2077T>G
c.5741T>G (p.Val1914Gly)
c.2930T>G (p.Val977Gly)
14g.91272863A>GCA390608778CCDC88Cc.5849T>C (p.Val1950Ala)
c.1283T>C (p.Val428Ala)
c.2077T>C
c.5741T>C (p.Val1914Ala)
c.2930T>C (p.Val977Ala)
14g.91272863A>TCA390608780CCDC88Cc.5849T>A (p.Val1950Glu)
c.1283T>A (p.Val428Glu)
c.2077T>A
c.5741T>A (p.Val1914Glu)
c.2930T>A (p.Val977Glu)
14g.91272864C>ACA390608783CCDC88Cc.5848G>T (p.Val1950Leu)
c.1282G>T (p.Val428Leu)
c.2076G>T
c.5740G>T (p.Val1914Leu)
c.2929G>T (p.Val977Leu)
 gnomAD v4
14g.91272864C=CA2154900618CCDC88Cc.5848G= (p.Val1950=)
c.1282G= (p.Val428=)
c.2076G=
c.5740G= (p.Val1914=)
c.2929G= (p.Val977=)
14g.91272864C>GCA390608785CCDC88Cc.5848G>C (p.Val1950Leu)
c.1282G>C (p.Val428Leu)
c.2076G>C
c.5740G>C (p.Val1914Leu)
c.2929G>C (p.Val977Leu)
14g.91272864C>TCA390608786CCDC88Cc.5848G>A (p.Val1950Met)
c.1282G>A (p.Val428Met)
c.2076G>A
c.5740G>A (p.Val1914Met)
c.2929G>A (p.Val977Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272865C>ACA390608788CCDC88Cc.5847G>T (p.Glu1949Asp)
c.1281G>T (p.Glu427Asp)
c.2075G>T
c.5739G>T (p.Glu1913Asp)
c.2928G>T (p.Glu976Asp)
 gnomAD v4
14g.91272865C>GCA390608789CCDC88Cc.5847G>C (p.Glu1949Asp)
c.1281G>C (p.Glu427Asp)
c.2075G>C
c.5739G>C (p.Glu1913Asp)
c.2928G>C (p.Glu976Asp)
 gnomAD v4
14g.91272865C>TCA487828604CCDC88Cc.5847G>A (p.Glu1949=)
c.1281G>A (p.Glu427=)
c.2075G>A
c.5739G>A (p.Glu1913=)
c.2928G>A (p.Glu976=)
 gnomAD v4
14g.91272866T>ACA390608791CCDC88Cc.5846A>T (p.Glu1949Val)
c.1280A>T (p.Glu427Val)
c.2074A>T
c.5738A>T (p.Glu1913Val)
c.2927A>T (p.Glu976Val)
14g.91272866T>CCA390608794CCDC88Cc.5846A>G (p.Glu1949Gly)
c.1280A>G (p.Glu427Gly)
c.2074A>G
c.5738A>G (p.Glu1913Gly)
c.2927A>G (p.Glu976Gly)
 gnomAD v4
14g.91272866T>GCA390608796CCDC88Cc.5846A>C (p.Glu1949Ala)
c.1280A>C (p.Glu427Ala)
c.2074A>C
c.5738A>C (p.Glu1913Ala)
c.2927A>C (p.Glu976Ala)
14g.91272866T=CA2154900625CCDC88Cc.5846A= (p.Glu1949=)
c.1280A= (p.Glu427=)
c.2074A=
c.5738A= (p.Glu1913=)
c.2927A= (p.Glu976=)
14g.91272867C>ACA7308572CCDC88Cc.5845G>T (p.Glu1949Ter)
c.1279G>T (p.Glu427Ter)
c.2073G>T
c.5737G>T (p.Glu1913Ter)
c.2926G>T (p.Glu976Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272867C=CA2154900633CCDC88Cc.5845G= (p.Glu1949=)
c.1279G= (p.Glu427=)
c.2073G=
c.5737G= (p.Glu1913=)
c.2926G= (p.Glu976=)
14g.91272867C>GCA390608798CCDC88Cc.5845G>C (p.Glu1949Gln)
c.1279G>C (p.Glu427Gln)
c.2073G>C
c.5737G>C (p.Glu1913Gln)
c.2926G>C (p.Glu976Gln)
14g.91272867C>TCA390608801CCDC88Cc.5845G>A (p.Glu1949Lys)
c.1279G>A (p.Glu427Lys)
c.2073G>A
c.5737G>A (p.Glu1913Lys)
c.2926G>A (p.Glu976Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272870dupCA265517402CCDC88Cc.5845dup (p.Glu1949GlyfsTer27)
c.1279dup (p.Glu427GlyfsTer27)
c.2073dup
c.5737dup (p.Glu1913GlyfsTer27)
c.2926dup (p.Glu976GlyfsTer27)
 dbSNP
14g.91272870delCA2626127450CCDC88Cc.5845del (p.Glu1949ArgfsTer?)
c.1279del (p.Glu427ArgfsTer?)
c.2073del
c.5737del (p.Glu1913ArgfsTer?)
c.2926del (p.Glu976ArgfsTer?)
 gnomAD v4
14g.91272868C>ACA265517410CCDC88Cc.5844G>T (p.Gly1948=)
c.1278G>T (p.Gly426=)
c.2072G>T
c.5736G>T (p.Gly1912=)
c.2925G>T (p.Gly975=)
 dbSNP gnomAD v4
14g.91272868C=CA2154900636CCDC88Cc.5844G= (p.Gly1948=)
c.1278G= (p.Gly426=)
c.2072G=
c.5736G= (p.Gly1912=)
c.2925G= (p.Gly975=)
14g.91272868C>GCA487828609CCDC88Cc.5844G>C (p.Gly1948=)
c.1278G>C (p.Gly426=)
c.2072G>C
c.5736G>C (p.Gly1912=)
c.2925G>C (p.Gly975=)
14g.91272868C>TCA487828611CCDC88Cc.5844G>A (p.Gly1948=)
c.1278G>A (p.Gly426=)
c.2072G>A
c.5736G>A (p.Gly1912=)
c.2925G>A (p.Gly975=)
 gnomAD v4
14g.91272869C>ACA390608805CCDC88Cc.5843G>T (p.Gly1948Val)
c.1277G>T (p.Gly426Val)
c.2071G>T
c.5735G>T (p.Gly1912Val)
c.2924G>T (p.Gly975Val)
 gnomAD v4
14g.91272869C=CA2154900642CCDC88Cc.5843G= (p.Gly1948=)
c.1277G= (p.Gly426=)
c.2071G=
c.5735G= (p.Gly1912=)
c.2924G= (p.Gly975=)
14g.91272869C>GCA390608807CCDC88Cc.5843G>C (p.Gly1948Ala)
c.1277G>C (p.Gly426Ala)
c.2071G>C
c.5735G>C (p.Gly1912Ala)
c.2924G>C (p.Gly975Ala)
14g.91272869C>TCA390608810CCDC88Cc.5843G>A (p.Gly1948Glu)
c.1277G>A (p.Gly426Glu)
c.2071G>A
c.5735G>A (p.Gly1912Glu)
c.2924G>A (p.Gly975Glu)
 dbSNP
14g.91272869_91272871delinsCCTCA2154900641CCDC88Cc.5841_5843delinsAGG (p.Ser1947=)
c.1275_1277delinsAGG (p.Ser425=)
c.2069_2071delinsAGG
c.5733_5735delinsAGG (p.Ser1911=)
c.2922_2924delinsAGG (p.Ser974=)
14g.91272870C>ACA390608813CCDC88Cc.5842G>T (p.Gly1948Trp)
c.1276G>T (p.Gly426Trp)
c.2070G>T
c.5734G>T (p.Gly1912Trp)
c.2923G>T (p.Gly975Trp)
 gnomAD v4
14g.91272870C=CA2154900650CCDC88Cc.5842G= (p.Gly1948=)
c.1276G= (p.Gly426=)
c.2070G=
c.5734G= (p.Gly1912=)
c.2923G= (p.Gly975=)
14g.91272870C>GCA390608816CCDC88Cc.5842G>C (p.Gly1948Arg)
c.1276G>C (p.Gly426Arg)
c.2070G>C
c.5734G>C (p.Gly1912Arg)
c.2923G>C (p.Gly975Arg)
14g.91272870C>TCA7308573CCDC88Cc.5842G>A (p.Gly1948Arg)
c.1276G>A (p.Gly426Arg)
c.2070G>A
c.5734G>A (p.Gly1912Arg)
c.2923G>A (p.Gly975Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272870_91272871delCA130650CCDC88Cc.5841_5842del (p.Glu1949GlyfsTer26)
c.1275_1276del (p.Glu427GlyfsTer26)
c.2069_2070del
c.5733_5734del (p.Glu1913GlyfsTer26)
c.2922_2923del (p.Glu976GlyfsTer26)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272870_91272871insCTCA709860628CCDC88Cc.5841_5842insAG (p.Gly1948ArgfsTer?)
c.1275_1276insAG (p.Gly426ArgfsTer?)
c.2069_2070insAG
c.5733_5734insAG (p.Gly1912ArgfsTer?)
c.2922_2923insAG (p.Gly975ArgfsTer?)
14g.91272871T>ACA487828621CCDC88Cc.5841A>T (p.Ser1947=)
c.1275A>T (p.Ser425=)
c.2069A>T
c.5733A>T (p.Ser1911=)
c.2922A>T (p.Ser974=)
 dbSNP gnomAD v4
14g.91272871T>CCA487828622CCDC88Cc.5841A>G (p.Ser1947=)
c.1275A>G (p.Ser425=)
c.2069A>G
c.5733A>G (p.Ser1911=)
c.2922A>G (p.Ser974=)
 ClinVar dbSNP gnomAD v2
14g.91272871T>GCA487828623CCDC88Cc.5841A>C (p.Ser1947=)
c.1275A>C (p.Ser425=)
c.2069A>C
c.5733A>C (p.Ser1911=)
c.2922A>C (p.Ser974=)
14g.91272871T=CA2154900660CCDC88Cc.5841A= (p.Ser1947=)
c.1275A= (p.Ser425=)
c.2069A=
c.5733A= (p.Ser1911=)
c.2922A= (p.Ser974=)
14g.91272872G>ACA390608821CCDC88Cc.5840C>T (p.Ser1947Leu)
c.1274C>T (p.Ser425Leu)
c.2068C>T
c.5732C>T (p.Ser1911Leu)
c.2921C>T (p.Ser974Leu)
 gnomAD v4
14g.91272872G>CCA390608824CCDC88Cc.5840C>G (p.Ser1947Ter)
c.1274C>G (p.Ser425Ter)
c.2068C>G
c.5732C>G (p.Ser1911Ter)
c.2921C>G (p.Ser974Ter)
14g.91272872G>TCA390608826CCDC88Cc.5840C>A (p.Ser1947Ter)
c.1274C>A (p.Ser425Ter)
c.2068C>A
c.5732C>A (p.Ser1911Ter)
c.2921C>A (p.Ser974Ter)
 gnomAD v4
14g.91272873A>CCA390608833CCDC88Cc.5839T>G (p.Ser1947Ala)
c.1273T>G (p.Ser425Ala)
c.2067T>G
c.5731T>G (p.Ser1911Ala)
c.2920T>G (p.Ser974Ala)
14g.91272873A>GCA390608835CCDC88Cc.5839T>C (p.Ser1947Pro)
c.1273T>C (p.Ser425Pro)
c.2067T>C
c.5731T>C (p.Ser1911Pro)
c.2920T>C (p.Ser974Pro)
 gnomAD v4
14g.91272873A>TCA390608830CCDC88Cc.5839T>A (p.Ser1947Thr)
c.1273T>A (p.Ser425Thr)
c.2067T>A
c.5731T>A (p.Ser1911Thr)
c.2920T>A (p.Ser974Thr)
14g.91272874G>ACA487828629CCDC88Cc.5838C>T (p.Arg1946=)
c.1272C>T (p.Arg424=)
c.2066C>T
c.5730C>T (p.Arg1910=)
c.2919C>T (p.Arg973=)
 gnomAD v4
14g.91272874G>CCA487828630CCDC88Cc.5838C>G (p.Arg1946=)
c.1272C>G (p.Arg424=)
c.2066C>G
c.5730C>G (p.Arg1910=)
c.2919C>G (p.Arg973=)
14g.91272874G>TCA487828632CCDC88Cc.5838C>A (p.Arg1946=)
c.1272C>A (p.Arg424=)
c.2066C>A
c.5730C>A (p.Arg1910=)
c.2919C>A (p.Arg973=)
 gnomAD v4
14g.91272875C>ACA390608838CCDC88Cc.5837G>T (p.Arg1946Leu)
c.1271G>T (p.Arg424Leu)
c.2065G>T
c.5729G>T (p.Arg1910Leu)
c.2918G>T (p.Arg973Leu)
 gnomAD v4
14g.91272875C=CA2154900663CCDC88Cc.5837G= (p.Arg1946=)
c.1271G= (p.Arg424=)
c.2065G=
c.5729G= (p.Arg1910=)
c.2918G= (p.Arg973=)
14g.91272875C>GCA390608840CCDC88Cc.5837G>C (p.Arg1946Pro)
c.1271G>C (p.Arg424Pro)
c.2065G>C
c.5729G>C (p.Arg1910Pro)
c.2918G>C (p.Arg973Pro)
14g.91272875C>TCA7308574CCDC88Cc.5837G>A (p.Arg1946His)
c.1271G>A (p.Arg424His)
c.2065G>A
c.5729G>A (p.Arg1910His)
c.2918G>A (p.Arg973His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272876G>ACA7308575CCDC88Cc.5836C>T (p.Arg1946Cys)
c.1270C>T (p.Arg424Cys)
c.2064C>T
c.5728C>T (p.Arg1910Cys)
c.2917C>T (p.Arg973Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272876G>CCA390608841CCDC88Cc.5836C>G (p.Arg1946Gly)
c.1270C>G (p.Arg424Gly)
c.2064C>G
c.5728C>G (p.Arg1910Gly)
c.2917C>G (p.Arg973Gly)
14g.91272876G=CA2154900672CCDC88Cc.5836C= (p.Arg1946=)
c.1270C= (p.Arg424=)
c.2064C=
c.5728C= (p.Arg1910=)
c.2917C= (p.Arg973=)
14g.91272876G>TCA390608842CCDC88Cc.5836C>A (p.Arg1946Ser)
c.1270C>A (p.Arg424Ser)
c.2064C>A
c.5728C>A (p.Arg1910Ser)
c.2917C>A (p.Arg973Ser)
 gnomAD v4
14g.91272877T>ACA487828635CCDC88Cc.5835A>T (p.Pro1945=)
c.1269A>T (p.Pro423=)
c.2063A>T
c.5727A>T (p.Pro1909=)
c.2916A>T (p.Pro972=)
14g.91272877T>CCA7308576CCDC88Cc.5835A>G (p.Pro1945=)
c.1269A>G (p.Pro423=)
c.2063A>G
c.5727A>G (p.Pro1909=)
c.2916A>G (p.Pro972=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272877T>GCA487828636CCDC88Cc.5835A>C (p.Pro1945=)
c.1269A>C (p.Pro423=)
c.2063A>C
c.5727A>C (p.Pro1909=)
c.2916A>C (p.Pro972=)
14g.91272877T=CA2154900687CCDC88Cc.5835A= (p.Pro1945=)
c.1269A= (p.Pro423=)
c.2063A=
c.5727A= (p.Pro1909=)
c.2916A= (p.Pro972=)
14g.91272878G>ACA390608843CCDC88Cc.5834C>T (p.Pro1945Leu)
c.1268C>T (p.Pro423Leu)
c.2062C>T
c.5726C>T (p.Pro1909Leu)
c.2915C>T (p.Pro972Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91272878G>CCA390608845CCDC88Cc.5834C>G (p.Pro1945Arg)
c.1268C>G (p.Pro423Arg)
c.2062C>G
c.5726C>G (p.Pro1909Arg)
c.2915C>G (p.Pro972Arg)
14g.91272878G=CA2154900694CCDC88Cc.5834C= (p.Pro1945=)
c.1268C= (p.Pro423=)
c.2062C=
c.5726C= (p.Pro1909=)
c.2915C= (p.Pro972=)
14g.91272878G>TCA390608844CCDC88Cc.5834C>A (p.Pro1945Gln)
c.1268C>A (p.Pro423Gln)
c.2062C>A
c.5726C>A (p.Pro1909Gln)
c.2915C>A (p.Pro972Gln)
 gnomAD v4
14g.91272882delCA645594358CCDC88Cc.5834del (p.Pro1945HisfsTer?)
c.1268del (p.Pro423HisfsTer?)
c.2062del
c.5726del (p.Pro1909HisfsTer?)
c.2915del (p.Pro972HisfsTer?)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
14g.91272879G>ACA390608846CCDC88Cc.5833C>T (p.Pro1945Ser)
c.1267C>T (p.Pro423Ser)
c.2061C>T
c.5725C>T (p.Pro1909Ser)
c.2914C>T (p.Pro972Ser)
 gnomAD v4
14g.91272879G>CCA390608847CCDC88Cc.5833C>G (p.Pro1945Ala)
c.1267C>G (p.Pro423Ala)
c.2061C>G
c.5725C>G (p.Pro1909Ala)
c.2914C>G (p.Pro972Ala)
14g.91272879G>TCA390608848CCDC88Cc.5833C>A (p.Pro1945Thr)
c.1267C>A (p.Pro423Thr)
c.2061C>A
c.5725C>A (p.Pro1909Thr)
c.2914C>A (p.Pro972Thr)
 gnomAD v4
14g.91272880G>ACA487828638CCDC88Cc.5832C>T (p.Pro1944=)
c.1266C>T (p.Pro422=)
c.2060C>T
c.5724C>T (p.Pro1908=)
c.2913C>T (p.Pro971=)
 gnomAD v4
14g.91272880G>CCA7308577CCDC88Cc.5832C>G (p.Pro1944=)
c.1266C>G (p.Pro422=)
c.2060C>G
c.5724C>G (p.Pro1908=)
c.2913C>G (p.Pro971=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272880G=CA2154900704CCDC88Cc.5832C= (p.Pro1944=)
c.1266C= (p.Pro422=)
c.2060C=
c.5724C= (p.Pro1908=)
c.2913C= (p.Pro971=)
14g.91272880G>TCA487828639CCDC88Cc.5832C>A (p.Pro1944=)
c.1266C>A (p.Pro422=)
c.2060C>A
c.5724C>A (p.Pro1908=)
c.2913C>A (p.Pro971=)
 gnomAD v4
14g.91272881G>ACA390608849CCDC88Cc.5831C>T (p.Pro1944Leu)
c.1265C>T (p.Pro422Leu)
c.2059C>T
c.5723C>T (p.Pro1908Leu)
c.2912C>T (p.Pro971Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91272881G>CCA390608851CCDC88Cc.5831C>G (p.Pro1944Arg)
c.1265C>G (p.Pro422Arg)
c.2059C>G
c.5723C>G (p.Pro1908Arg)
c.2912C>G (p.Pro971Arg)
14g.91272881G=CA2154900709CCDC88Cc.5831C= (p.Pro1944=)
c.1265C= (p.Pro422=)
c.2059C=
c.5723C= (p.Pro1908=)
c.2912C= (p.Pro971=)
14g.91272881G>TCA390608850CCDC88Cc.5831C>A (p.Pro1944His)
c.1265C>A (p.Pro422His)
c.2059C>A
c.5723C>A (p.Pro1908His)
c.2912C>A (p.Pro971His)
 gnomAD v4
14g.91272882G>ACA390608852CCDC88Cc.5830C>T (p.Pro1944Ser)
c.1264C>T (p.Pro422Ser)
c.2058C>T
c.5722C>T (p.Pro1908Ser)
c.2911C>T (p.Pro971Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272882G>CCA390608853CCDC88Cc.5830C>G (p.Pro1944Ala)
c.1264C>G (p.Pro422Ala)
c.2058C>G
c.5722C>G (p.Pro1908Ala)
c.2911C>G (p.Pro971Ala)
14g.91272882G=CA2154900714CCDC88Cc.5830C= (p.Pro1944=)
c.1264C= (p.Pro422=)
c.2058C=
c.5722C= (p.Pro1908=)
c.2911C= (p.Pro971=)
14g.91272882G>TCA390608854CCDC88Cc.5830C>A (p.Pro1944Thr)
c.1264C>A (p.Pro422Thr)
c.2058C>A
c.5722C>A (p.Pro1908Thr)
c.2911C>A (p.Pro971Thr)
 gnomAD v4
14g.91272883C>ACA7308579CCDC88Cc.5829G>T (p.Ala1943=)
c.1263G>T (p.Ala421=)
c.2057G>T
c.5721G>T (p.Ala1907=)
c.2910G>T (p.Ala970=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272883C=CA2154900719CCDC88Cc.5829G= (p.Ala1943=)
c.1263G= (p.Ala421=)
c.2057G=
c.5721G= (p.Ala1907=)
c.2910G= (p.Ala970=)
14g.91272883C>GCA487828645CCDC88Cc.5829G>C (p.Ala1943=)
c.1263G>C (p.Ala421=)
c.2057G>C
c.5721G>C (p.Ala1907=)
c.2910G>C (p.Ala970=)
14g.91272883C>TCA7308578CCDC88Cc.5829G>A (p.Ala1943=)
c.1263G>A (p.Ala421=)
c.2057G>A
c.5721G>A (p.Ala1907=)
c.2910G>A (p.Ala970=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272884G>ACA265517441CCDC88Cc.5828C>T (p.Ala1943Val)
c.1262C>T (p.Ala421Val)
c.2056C>T
c.5720C>T (p.Ala1907Val)
c.2909C>T (p.Ala970Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272884G>CCA390608855CCDC88Cc.5828C>G (p.Ala1943Gly)
c.1262C>G (p.Ala421Gly)
c.2056C>G
c.5720C>G (p.Ala1907Gly)
c.2909C>G (p.Ala970Gly)
14g.91272884G=CA2154900724CCDC88Cc.5828C= (p.Ala1943=)
c.1262C= (p.Ala421=)
c.2056C=
c.5720C= (p.Ala1907=)
c.2909C= (p.Ala970=)
14g.91272884G>TCA390608856CCDC88Cc.5828C>A (p.Ala1943Glu)
c.1262C>A (p.Ala421Glu)
c.2056C>A
c.5720C>A (p.Ala1907Glu)
c.2909C>A (p.Ala970Glu)
 gnomAD v4
14g.91272885C>ACA390608857CCDC88Cc.5827G>T (p.Ala1943Ser)
c.1261G>T (p.Ala421Ser)
c.2055G>T
c.5719G>T (p.Ala1907Ser)
c.2908G>T (p.Ala970Ser)
 gnomAD v4
14g.91272885C>GCA390608858CCDC88Cc.5827G>C (p.Ala1943Pro)
c.1261G>C (p.Ala421Pro)
c.2055G>C
c.5719G>C (p.Ala1907Pro)
c.2908G>C (p.Ala970Pro)
14g.91272885C>TCA390608859CCDC88Cc.5827G>A (p.Ala1943Thr)
c.1261G>A (p.Ala421Thr)
c.2055G>A
c.5719G>A (p.Ala1907Thr)
c.2908G>A (p.Ala970Thr)
 gnomAD v4
14g.91272886C>ACA390608860CCDC88Cc.5826G>T (p.Lys1942Asn)
c.1260G>T (p.Lys420Asn)
c.2054G>T
c.5718G>T (p.Lys1906Asn)
c.2907G>T (p.Lys969Asn)
 gnomAD v4
14g.91272886C=CA2154900727CCDC88Cc.5826G= (p.Lys1942=)
c.1260G= (p.Lys420=)
c.2054G=
c.5718G= (p.Lys1906=)
c.2907G= (p.Lys969=)
14g.91272886C>GCA390608861CCDC88Cc.5826G>C (p.Lys1942Asn)
c.1260G>C (p.Lys420Asn)
c.2054G>C
c.5718G>C (p.Lys1906Asn)
c.2907G>C (p.Lys969Asn)
14g.91272886C>TCA7308580CCDC88Cc.5826G>A (p.Lys1942=)
c.1260G>A (p.Lys420=)
c.2054G>A
c.5718G>A (p.Lys1906=)
c.2907G>A (p.Lys969=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272887T>ACA390608862CCDC88Cc.5825A>T (p.Lys1942Met)
c.1259A>T (p.Lys420Met)
c.2053A>T
c.5717A>T (p.Lys1906Met)
c.2906A>T (p.Lys969Met)
 gnomAD v4
14g.91272887T>CCA265517449CCDC88Cc.5825A>G (p.Lys1942Arg)
c.1259A>G (p.Lys420Arg)
c.2053A>G
c.5717A>G (p.Lys1906Arg)
c.2906A>G (p.Lys969Arg)
 dbSNP
14g.91272887T>GCA390608863CCDC88Cc.5825A>C (p.Lys1942Thr)
c.1259A>C (p.Lys420Thr)
c.2053A>C
c.5717A>C (p.Lys1906Thr)
c.2906A>C (p.Lys969Thr)
14g.91272887T=CA2154900728CCDC88Cc.5825A= (p.Lys1942=)
c.1259A= (p.Lys420=)
c.2053A=
c.5717A= (p.Lys1906=)
c.2906A= (p.Lys969=)
14g.91272888T>ACA390608864CCDC88Cc.5824A>T (p.Lys1942Ter)
c.1258A>T (p.Lys420Ter)
c.2052A>T
c.5716A>T (p.Lys1906Ter)
c.2905A>T (p.Lys969Ter)
14g.91272888T>CCA390608865CCDC88Cc.5824A>G (p.Lys1942Glu)
c.1258A>G (p.Lys420Glu)
c.2052A>G
c.5716A>G (p.Lys1906Glu)
c.2905A>G (p.Lys969Glu)
 gnomAD v4
14g.91272888T>GCA390608866CCDC88Cc.5824A>C (p.Lys1942Gln)
c.1258A>C (p.Lys420Gln)
c.2052A>C
c.5716A>C (p.Lys1906Gln)
c.2905A>C (p.Lys969Gln)
14g.91272889G>ACA487828655CCDC88Cc.5823C>T (p.Pro1941=)
c.1257C>T (p.Pro419=)
c.2051C>T
c.5715C>T (p.Pro1905=)
c.2904C>T (p.Pro968=)
14g.91272889G>CCA487828658CCDC88Cc.5823C>G (p.Pro1941=)
c.1257C>G (p.Pro419=)
c.2051C>G
c.5715C>G (p.Pro1905=)
c.2904C>G (p.Pro968=)
14g.91272889G>TCA487828659CCDC88Cc.5823C>A (p.Pro1941=)
c.1257C>A (p.Pro419=)
c.2051C>A
c.5715C>A (p.Pro1905=)
c.2904C>A (p.Pro968=)
 gnomAD v4
14g.91272891delCA2626127570CCDC88Cc.5823del (p.Lys1942ArgfsTer?)
c.1257del (p.Lys420ArgfsTer?)
c.2051del
c.5715del (p.Lys1906ArgfsTer?)
c.2904del (p.Lys969ArgfsTer?)
 gnomAD v4
14g.91272890G>ACA390608867CCDC88Cc.5822C>T (p.Pro1941Leu)
c.1256C>T (p.Pro419Leu)
c.2050C>T
c.5714C>T (p.Pro1905Leu)
c.2903C>T (p.Pro968Leu)
 gnomAD v4
14g.91272890G>CCA390608868CCDC88Cc.5822C>G (p.Pro1941Arg)
c.1256C>G (p.Pro419Arg)
c.2050C>G
c.5714C>G (p.Pro1905Arg)
c.2903C>G (p.Pro968Arg)
14g.91272890G>TCA390608869CCDC88Cc.5822C>A (p.Pro1941His)
c.1256C>A (p.Pro419His)
c.2050C>A
c.5714C>A (p.Pro1905His)
c.2903C>A (p.Pro968His)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272891G>ACA390608872CCDC88Cc.5821C>T (p.Pro1941Ser)
c.1255C>T (p.Pro419Ser)
c.2049C>T
c.5713C>T (p.Pro1905Ser)
c.2902C>T (p.Pro968Ser)
 gnomAD v4
14g.91272891G>CCA390608870CCDC88Cc.5821C>G (p.Pro1941Ala)
c.1255C>G (p.Pro419Ala)
c.2049C>G
c.5713C>G (p.Pro1905Ala)
c.2902C>G (p.Pro968Ala)
14g.91272891G>TCA390608871CCDC88Cc.5821C>A (p.Pro1941Thr)
c.1255C>A (p.Pro419Thr)
c.2049C>A
c.5713C>A (p.Pro1905Thr)
c.2902C>A (p.Pro968Thr)
 gnomAD v4
14g.91272892C>ACA390608873CCDC88Cc.5820G>T (p.Lys1940Asn)
c.1254G>T (p.Lys418Asn)
c.2048G>T
c.5712G>T (p.Lys1904Asn)
c.2901G>T (p.Lys967Asn)
 gnomAD v4
14g.91272892C>GCA390608874CCDC88Cc.5820G>C (p.Lys1940Asn)
c.1254G>C (p.Lys418Asn)
c.2048G>C
c.5712G>C (p.Lys1904Asn)
c.2901G>C (p.Lys967Asn)
14g.91272892C>TCA487828666CCDC88Cc.5820G>A (p.Lys1940=)
c.1254G>A (p.Lys418=)
c.2048G>A
c.5712G>A (p.Lys1904=)
c.2901G>A (p.Lys967=)
14g.91272893T>ACA390608875CCDC88Cc.5819A>T (p.Lys1940Met)
c.1253A>T (p.Lys418Met)
c.2047A>T
c.5711A>T (p.Lys1904Met)
c.2900A>T (p.Lys967Met)
14g.91272893T>CCA390608876CCDC88Cc.5819A>G (p.Lys1940Arg)
c.1253A>G (p.Lys418Arg)
c.2047A>G
c.5711A>G (p.Lys1904Arg)
c.2900A>G (p.Lys967Arg)
 gnomAD v4
14g.91272893T>GCA390608877CCDC88Cc.5819A>C (p.Lys1940Thr)
c.1253A>C (p.Lys418Thr)
c.2047A>C
c.5711A>C (p.Lys1904Thr)
c.2900A>C (p.Lys967Thr)
14g.91272894T>ACA7308581CCDC88Cc.5818A>T (p.Lys1940Ter)
c.1252A>T (p.Lys418Ter)
c.2046A>T
c.5710A>T (p.Lys1904Ter)
c.2899A>T (p.Lys967Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272894T>CCA390608879CCDC88Cc.5818A>G (p.Lys1940Glu)
c.1252A>G (p.Lys418Glu)
c.2046A>G
c.5710A>G (p.Lys1904Glu)
c.2899A>G (p.Lys967Glu)
 gnomAD v4
14g.91272894T>GCA390608878CCDC88Cc.5818A>C (p.Lys1940Gln)
c.1252A>C (p.Lys418Gln)
c.2046A>C
c.5710A>C (p.Lys1904Gln)
c.2899A>C (p.Lys967Gln)
14g.91272894T=CA2154900731CCDC88Cc.5818A= (p.Lys1940=)
c.1252A= (p.Lys418=)
c.2046A=
c.5710A= (p.Lys1904=)
c.2899A= (p.Lys967=)
14g.91272895G>ACA7308582CCDC88Cc.5817C>T (p.Thr1939=)
c.1251C>T (p.Thr417=)
c.2045C>T
c.5709C>T (p.Thr1903=)
c.2898C>T (p.Thr966=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272895G>CCA487828672CCDC88Cc.5817C>G (p.Thr1939=)
c.1251C>G (p.Thr417=)
c.2045C>G
c.5709C>G (p.Thr1903=)
c.2898C>G (p.Thr966=)
 gnomAD v4
14g.91272895G=CA2154900734CCDC88Cc.5817C= (p.Thr1939=)
c.1251C= (p.Thr417=)
c.2045C=
c.5709C= (p.Thr1903=)
c.2898C= (p.Thr966=)
14g.91272895G>TCA487828674CCDC88Cc.5817C>A (p.Thr1939=)
c.1251C>A (p.Thr417=)
c.2045C>A
c.5709C>A (p.Thr1903=)
c.2898C>A (p.Thr966=)
 gnomAD v4
14g.91272896G>ACA390608880CCDC88Cc.5816C>T (p.Thr1939Ile)
c.1250C>T (p.Thr417Ile)
c.2044C>T
c.5708C>T (p.Thr1903Ile)
c.2897C>T (p.Thr966Ile)
14g.91272896G>CCA390608881CCDC88Cc.5816C>G (p.Thr1939Ser)
c.1250C>G (p.Thr417Ser)
c.2044C>G
c.5708C>G (p.Thr1903Ser)
c.2897C>G (p.Thr966Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91272896G=CA2154900740CCDC88Cc.5816C= (p.Thr1939=)
c.1250C= (p.Thr417=)
c.2044C=
c.5708C= (p.Thr1903=)
c.2897C= (p.Thr966=)
14g.91272896G>TCA390608882CCDC88Cc.5816C>A (p.Thr1939Asn)
c.1250C>A (p.Thr417Asn)
c.2044C>A
c.5708C>A (p.Thr1903Asn)
c.2897C>A (p.Thr966Asn)
 gnomAD v4
14g.91272897T>ACA390608883CCDC88Cc.5815A>T (p.Thr1939Ser)
c.1249A>T (p.Thr417Ser)
c.2043A>T
c.5707A>T (p.Thr1903Ser)
c.2896A>T (p.Thr966Ser)
14g.91272897T>CCA390608884CCDC88Cc.5815A>G (p.Thr1939Ala)
c.1249A>G (p.Thr417Ala)
c.2043A>G
c.5707A>G (p.Thr1903Ala)
c.2896A>G (p.Thr966Ala)
14g.91272897T>GCA390608885CCDC88Cc.5815A>C (p.Thr1939Pro)
c.1249A>C (p.Thr417Pro)
c.2043A>C
c.5707A>C (p.Thr1903Pro)
c.2896A>C (p.Thr966Pro)
14g.91272898C>ACA390608886CCDC88Cc.5814G>T (p.Arg1938Ser)
c.1248G>T (p.Arg416Ser)
c.2042G>T
c.5706G>T (p.Arg1902Ser)
c.2895G>T (p.Arg965Ser)
 gnomAD v4
14g.91272898C=CA2154900742CCDC88Cc.5814G= (p.Arg1938=)
c.1248G= (p.Arg416=)
c.2042G=
c.5706G= (p.Arg1902=)
c.2895G= (p.Arg965=)
14g.91272898C>GCA390608887CCDC88Cc.5814G>C (p.Arg1938Ser)
c.1248G>C (p.Arg416Ser)
c.2042G>C
c.5706G>C (p.Arg1902Ser)
c.2895G>C (p.Arg965Ser)
 dbSNP
14g.91272898C>TCA487828677CCDC88Cc.5814G>A (p.Arg1938=)
c.1248G>A (p.Arg416=)
c.2042G>A
c.5706G>A (p.Arg1902=)
c.2895G>A (p.Arg965=)
 gnomAD v4
14g.91272899C>ACA390608888CCDC88Cc.5813G>T (p.Arg1938Met)
c.1247G>T (p.Arg416Met)
c.2041G>T
c.5705G>T (p.Arg1902Met)
c.2894G>T (p.Arg965Met)
 gnomAD v4
14g.91272899C>GCA390608889CCDC88Cc.5813G>C (p.Arg1938Thr)
c.1247G>C (p.Arg416Thr)
c.2041G>C
c.5705G>C (p.Arg1902Thr)
c.2894G>C (p.Arg965Thr)
14g.91272899C>TCA390608890CCDC88Cc.5813G>A (p.Arg1938Lys)
c.1247G>A (p.Arg416Lys)
c.2041G>A
c.5705G>A (p.Arg1902Lys)
c.2894G>A (p.Arg965Lys)
 gnomAD v4
14g.91272900T>ACA390608891CCDC88Cc.5812A>T (p.Arg1938Trp)
c.1246A>T (p.Arg416Trp)
c.2040A>T
c.5704A>T (p.Arg1902Trp)
c.2893A>T (p.Arg965Trp)
14g.91272900T>CCA390608892CCDC88Cc.5812A>G (p.Arg1938Gly)
c.1246A>G (p.Arg416Gly)
c.2040A>G
c.5704A>G (p.Arg1902Gly)
c.2893A>G (p.Arg965Gly)
 gnomAD v4
14g.91272900T>GCA487828682CCDC88Cc.5812A>C (p.Arg1938=)
c.1246A>C (p.Arg416=)
c.2040A>C
c.5704A>C (p.Arg1902=)
c.2893A>C (p.Arg965=)
14g.91272901G>ACA487828685CCDC88Cc.5811C>T (p.Ala1937=)
c.1245C>T (p.Ala415=)
c.2039C>T
c.5703C>T (p.Ala1901=)
c.2892C>T (p.Ala964=)
 ClinVar dbSNP gnomAD v4
14g.91272901G>CCA487828688CCDC88Cc.5811C>G (p.Ala1937=)
c.1245C>G (p.Ala415=)
c.2039C>G
c.5703C>G (p.Ala1901=)
c.2892C>G (p.Ala964=)
14g.91272901G=CA2154900744CCDC88Cc.5811C= (p.Ala1937=)
c.1245C= (p.Ala415=)
c.2039C=
c.5703C= (p.Ala1901=)
c.2892C= (p.Ala964=)
14g.91272901G>TCA487828687CCDC88Cc.5811C>A (p.Ala1937=)
c.1245C>A (p.Ala415=)
c.2039C>A
c.5703C>A (p.Ala1901=)
c.2892C>A (p.Ala964=)
 gnomAD v4
14g.91272902G>ACA390608893CCDC88Cc.5810C>T (p.Ala1937Val)
c.1244C>T (p.Ala415Val)
c.2038C>T
c.5702C>T (p.Ala1901Val)
c.2891C>T (p.Ala964Val)
 gnomAD v4
14g.91272902G>CCA390608894CCDC88Cc.5810C>G (p.Ala1937Gly)
c.1244C>G (p.Ala415Gly)
c.2038C>G
c.5702C>G (p.Ala1901Gly)
c.2891C>G (p.Ala964Gly)
14g.91272902G>TCA390608895CCDC88Cc.5810C>A (p.Ala1937Asp)
c.1244C>A (p.Ala415Asp)
c.2038C>A
c.5702C>A (p.Ala1901Asp)
c.2891C>A (p.Ala964Asp)
 gnomAD v4
14g.91272903C>ACA390608896CCDC88Cc.5809G>T (p.Ala1937Ser)
c.1243G>T (p.Ala415Ser)
c.2037G>T
c.5701G>T (p.Ala1901Ser)
c.2890G>T (p.Ala964Ser)
 gnomAD v4
14g.91272903C>GCA390608897CCDC88Cc.5809G>C (p.Ala1937Pro)
c.1243G>C (p.Ala415Pro)
c.2037G>C
c.5701G>C (p.Ala1901Pro)
c.2890G>C (p.Ala964Pro)
14g.91272903C>TCA390608898CCDC88Cc.5809G>A (p.Ala1937Thr)
c.1243G>A (p.Ala415Thr)
c.2037G>A
c.5701G>A (p.Ala1901Thr)
c.2890G>A (p.Ala964Thr)
 gnomAD v4
14g.91272904A>CCA487828690CCDC88Cc.5808T>G (p.Ala1936=)
c.1242T>G (p.Ala414=)
c.2036T>G
c.5700T>G (p.Ala1900=)
c.2889T>G (p.Ala963=)
14g.91272904A>GCA487828691CCDC88Cc.5808T>C (p.Ala1936=)
c.1242T>C (p.Ala414=)
c.2036T>C
c.5700T>C (p.Ala1900=)
c.2889T>C (p.Ala963=)
 gnomAD v4
14g.91272904A>TCA487828693CCDC88Cc.5808T>A (p.Ala1936=)
c.1242T>A (p.Ala414=)
c.2036T>A
c.5700T>A (p.Ala1900=)
c.2889T>A (p.Ala963=)
14g.91272905G>ACA390608899CCDC88Cc.5807C>T (p.Ala1936Val)
c.1241C>T (p.Ala414Val)
c.2035C>T
c.5699C>T (p.Ala1900Val)
c.2888C>T (p.Ala963Val)
 gnomAD v4
14g.91272905G>CCA390608900CCDC88Cc.5807C>G (p.Ala1936Gly)
c.1241C>G (p.Ala414Gly)
c.2035C>G
c.5699C>G (p.Ala1900Gly)
c.2888C>G (p.Ala963Gly)
14g.91272905G>TCA390608901CCDC88Cc.5807C>A (p.Ala1936Asp)
c.1241C>A (p.Ala414Asp)
c.2035C>A
c.5699C>A (p.Ala1900Asp)
c.2888C>A (p.Ala963Asp)
 gnomAD v4
14g.91272906C>ACA390608902CCDC88Cc.5806G>T (p.Ala1936Ser)
c.1240G>T (p.Ala414Ser)
c.2034G>T
c.5698G>T (p.Ala1900Ser)
c.2887G>T (p.Ala963Ser)
 gnomAD v4
14g.91272906C>GCA390608903CCDC88Cc.5806G>C (p.Ala1936Pro)
c.1240G>C (p.Ala414Pro)
c.2034G>C
c.5698G>C (p.Ala1900Pro)
c.2887G>C (p.Ala963Pro)
14g.91272906C>TCA390608904CCDC88Cc.5806G>A (p.Ala1936Thr)
c.1240G>A (p.Ala414Thr)
c.2034G>A
c.5698G>A (p.Ala1900Thr)
c.2887G>A (p.Ala963Thr)
 gnomAD v4
14g.91272907C>ACA487828699CCDC88Cc.5805G>T (p.Pro1935=)
c.1239G>T (p.Pro413=)
c.2033G>T
c.5697G>T (p.Pro1899=)
c.2886G>T (p.Pro962=)
 gnomAD v4
14g.91272907C=CA2154900749CCDC88Cc.5805G= (p.Pro1935=)
c.1239G= (p.Pro413=)
c.2033G=
c.5697G= (p.Pro1899=)
c.2886G= (p.Pro962=)
14g.91272907C>GCA487828702CCDC88Cc.5805G>C (p.Pro1935=)
c.1239G>C (p.Pro413=)
c.2033G>C
c.5697G>C (p.Pro1899=)
c.2886G>C (p.Pro962=)
 ClinVar
14g.91272907C>TCA7308583CCDC88Cc.5805G>A (p.Pro1935=)
c.1239G>A (p.Pro413=)
c.2033G>A
c.5697G>A (p.Pro1899=)
c.2886G>A (p.Pro962=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272908G>ACA7308584CCDC88Cc.5804C>T (p.Pro1935Leu)
c.1238C>T (p.Pro413Leu)
c.2032C>T
c.5696C>T (p.Pro1899Leu)
c.2885C>T (p.Pro962Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272908G>CCA390608906CCDC88Cc.5804C>G (p.Pro1935Arg)
c.1238C>G (p.Pro413Arg)
c.2032C>G
c.5696C>G (p.Pro1899Arg)
c.2885C>G (p.Pro962Arg)
 gnomAD v4
14g.91272908G=CA2154900752CCDC88Cc.5804C= (p.Pro1935=)
c.1238C= (p.Pro413=)
c.2032C=
c.5696C= (p.Pro1899=)
c.2885C= (p.Pro962=)
14g.91272908G>TCA390608905CCDC88Cc.5804C>A (p.Pro1935Gln)
c.1238C>A (p.Pro413Gln)
c.2032C>A
c.5696C>A (p.Pro1899Gln)
c.2885C>A (p.Pro962Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272910_91272921dupCA965920973CCDC88Cc.5793_5804dup (p.Pro1935_Ala1936insAlaAlaAlaPro)
c.1227_1238dup (p.Pro413_Ala414insAlaAlaAlaPro)
c.2021_2032dup
c.5685_5696dup (p.Pro1899_Ala1900insAlaAlaAlaPro)
c.2874_2885dup (p.Pro962_Ala963insAlaAlaAlaPro)
 dbSNP gnomAD v3 gnomAD v4
14g.91272909G>ACA390608907CCDC88Cc.5803C>T (p.Pro1935Ser)
c.1237C>T (p.Pro413Ser)
c.2031C>T
c.5695C>T (p.Pro1899Ser)
c.2884C>T (p.Pro962Ser)
 gnomAD v4
14g.91272909G>CCA390608908CCDC88Cc.5803C>G (p.Pro1935Ala)
c.1237C>G (p.Pro413Ala)
c.2031C>G
c.5695C>G (p.Pro1899Ala)
c.2884C>G (p.Pro962Ala)
14g.91272909G>TCA390608909CCDC88Cc.5803C>A (p.Pro1935Thr)
c.1237C>A (p.Pro413Thr)
c.2031C>A
c.5695C>A (p.Pro1899Thr)
c.2884C>A (p.Pro962Thr)
 gnomAD v4
14g.91272910G>ACA487828708CCDC88Cc.5802C>T (p.Ala1934=)
c.1236C>T (p.Ala412=)
c.2030C>T
c.5694C>T (p.Ala1898=)
c.2883C>T (p.Ala961=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272910G>CCA487828709CCDC88Cc.5802C>G (p.Ala1934=)
c.1236C>G (p.Ala412=)
c.2030C>G
c.5694C>G (p.Ala1898=)
c.2883C>G (p.Ala961=)
 dbSNP gnomAD v3 gnomAD v4
14g.91272910G=CA2154900758CCDC88Cc.5802C= (p.Ala1934=)
c.1236C= (p.Ala412=)
c.2030C=
c.5694C= (p.Ala1898=)
c.2883C= (p.Ala961=)
14g.91272910G>TCA487828710CCDC88Cc.5802C>A (p.Ala1934=)
c.1236C>A (p.Ala412=)
c.2030C>A
c.5694C>A (p.Ala1898=)
c.2883C>A (p.Ala961=)
 gnomAD v4
14g.91272911G>ACA7308585CCDC88Cc.5801C>T (p.Ala1934Val)
c.1235C>T (p.Ala412Val)
c.2029C>T
c.5693C>T (p.Ala1898Val)
c.2882C>T (p.Ala961Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272911G>CCA390608910CCDC88Cc.5801C>G (p.Ala1934Gly)
c.1235C>G (p.Ala412Gly)
c.2029C>G
c.5693C>G (p.Ala1898Gly)
c.2882C>G (p.Ala961Gly)
14g.91272911G=CA2154900761CCDC88Cc.5801C= (p.Ala1934=)
c.1235C= (p.Ala412=)
c.2029C=
c.5693C= (p.Ala1898=)
c.2882C= (p.Ala961=)
14g.91272911G>TCA390608911CCDC88Cc.5801C>A (p.Ala1934Asp)
c.1235C>A (p.Ala412Asp)
c.2029C>A
c.5693C>A (p.Ala1898Asp)
c.2882C>A (p.Ala961Asp)
 gnomAD v4
14g.91272912C>ACA390608912CCDC88Cc.5800G>T (p.Ala1934Ser)
c.1234G>T (p.Ala412Ser)
c.2028G>T
c.5692G>T (p.Ala1898Ser)
c.2881G>T (p.Ala961Ser)
 gnomAD v4
14g.91272912C>GCA390608914CCDC88Cc.5800G>C (p.Ala1934Pro)
c.1234G>C (p.Ala412Pro)
c.2028G>C
c.5692G>C (p.Ala1898Pro)
c.2881G>C (p.Ala961Pro)
14g.91272912C>TCA390608913CCDC88Cc.5800G>A (p.Ala1934Thr)
c.1234G>A (p.Ala412Thr)
c.2028G>A
c.5692G>A (p.Ala1898Thr)
c.2881G>A (p.Ala961Thr)
 gnomAD v4
14g.91272913T>ACA487828716CCDC88Cc.5799A>T (p.Ala1933=)
c.1233A>T (p.Ala411=)
c.2027A>T
c.5691A>T (p.Ala1897=)
c.2880A>T (p.Ala960=)
 gnomAD v4
14g.91272913T>CCA7308586CCDC88Cc.5799A>G (p.Ala1933=)
c.1233A>G (p.Ala411=)
c.2027A>G
c.5691A>G (p.Ala1897=)
c.2880A>G (p.Ala960=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272913T>GCA487828721CCDC88Cc.5799A>C (p.Ala1933=)
c.1233A>C (p.Ala411=)
c.2027A>C
c.5691A>C (p.Ala1897=)
c.2880A>C (p.Ala960=)
 ClinVar
14g.91272913T=CA2154900763CCDC88Cc.5799A= (p.Ala1933=)
c.1233A= (p.Ala411=)
c.2027A=
c.5691A= (p.Ala1897=)
c.2880A= (p.Ala960=)

Number of alleles fetched