Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.74107238A=CA1919898877VCLc.2443A= (p.Lys815=)
c.1459A= (p.Lys487=)
n.435A=
n.5246A=
c.*2198A= (n.*2198A=)
c.2446A= (p.Lys816=)
10g.74107238A>CCA377263538VCLc.2443A>C (p.Lys815Gln)
c.1459A>C (p.Lys487Gln)
n.435A>C
n.5246A>C
c.*2198A>C (n.*2198A>C)
c.2446A>C (p.Lys816Gln)
10g.74107238A>GCA209695415VCLc.2443A>G (p.Lys815Glu)
c.1459A>G (p.Lys487Glu)
n.435A>G
n.5246A>G
c.*2198A>G (n.*2198A>G)
c.2446A>G (p.Lys816Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74107238A>TCA377263539VCLc.2443A>T (p.Lys815Ter)
c.1459A>T (p.Lys487Ter)
n.435A>T
n.5246A>T
c.*2198A>T (n.*2198A>T)
c.2446A>T (p.Lys816Ter)
10g.74107239A=CA1919898884VCLc.2444A= (p.Lys815=)
c.1460A= (p.Lys487=)
n.436A=
n.5247A=
c.*2199A= (n.*2199A=)
c.2447A= (p.Lys816=)
10g.74107239A>CCA377263541VCLc.2444A>C (p.Lys815Thr)
c.1460A>C (p.Lys487Thr)
n.436A>C
n.5247A>C
c.*2199A>C (n.*2199A>C)
c.2447A>C (p.Lys816Thr)
10g.74107239A>GCA136745VCLc.2444A>G (p.Lys815Arg)
c.1460A>G (p.Lys487Arg)
n.436A>G
n.5247A>G
c.*2199A>G (n.*2199A>G)
c.2447A>G (p.Lys816Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107239A>TCA377263540VCLc.2444A>T (p.Lys815Met)
c.1460A>T (p.Lys487Met)
n.436A>T
n.5247A>T
c.*2199A>T (n.*2199A>T)
c.2447A>T (p.Lys816Met)
10g.74107240G>ACA470164022VCLc.2445G>A (p.Lys815=)
c.1461G>A (p.Lys487=)
n.437G>A
n.5248G>A
c.*2200G>A (n.*2200G>A)
c.2448G>A (p.Lys816=)
10g.74107240G>CCA5563230VCLc.2445G>C (p.Lys815Asn)
c.1461G>C (p.Lys487Asn)
n.437G>C
n.5248G>C
c.*2200G>C (n.*2200G>C)
c.2448G>C (p.Lys816Asn)
dbSNP ExAC gnomAD v2
10g.74107240G=CA1919898888VCLc.2445G= (p.Lys815=)
c.1461G= (p.Lys487=)
n.437G=
n.5248G=
c.*2200G= (n.*2200G=)
c.2448G= (p.Lys816=)
10g.74107240G>TCA377263542VCLc.2445G>T (p.Lys815Asn)
c.1461G>T (p.Lys487Asn)
n.437G>T
n.5248G>T
c.*2200G>T (n.*2200G>T)
c.2448G>T (p.Lys816Asn)
dbSNP
10g.74107241A>CCA377263543VCLc.2446A>C (p.Ser816Arg)
c.1462A>C (p.Ser488Arg)
n.438A>C
n.5249A>C
c.*2201A>C (n.*2201A>C)
c.2449A>C (p.Ser817Arg)
10g.74107241A>GCA377263544VCLc.2446A>G (p.Ser816Gly)
c.1462A>G (p.Ser488Gly)
n.438A>G
n.5249A>G
c.*2201A>G (n.*2201A>G)
c.2449A>G (p.Ser817Gly)
10g.74107241A>TCA377263545VCLc.2446A>T (p.Ser816Cys)
c.1462A>T (p.Ser488Cys)
n.438A>T
n.5249A>T
c.*2201A>T (n.*2201A>T)
c.2449A>T (p.Ser817Cys)
10g.74107242G>ACA377263546VCLc.2447G>A (p.Ser816Asn)
c.1463G>A (p.Ser488Asn)
n.439G>A
n.5250G>A
c.*2202G>A (n.*2202G>A)
c.2450G>A (p.Ser817Asn)
gnomAD v4
10g.74107242G>CCA377263547VCLc.2447G>C (p.Ser816Thr)
c.1463G>C (p.Ser488Thr)
n.439G>C
n.5250G>C
c.*2202G>C (n.*2202G>C)
c.2450G>C (p.Ser817Thr)
10g.74107242G>TCA377263548VCLc.2447G>T (p.Ser816Ile)
c.1463G>T (p.Ser488Ile)
n.439G>T
n.5250G>T
c.*2202G>T (n.*2202G>T)
c.2450G>T (p.Ser817Ile)
10g.74107243C>ACA377263549VCLc.2448C>A (p.Ser816Arg)
c.1464C>A (p.Ser488Arg)
n.440C>A
n.5251C>A
c.*2203C>A (n.*2203C>A)
c.2451C>A (p.Ser817Arg)
10g.74107243C>GCA377263550VCLc.2448C>G (p.Ser816Arg)
c.1464C>G (p.Ser488Arg)
n.440C>G
n.5251C>G
c.*2203C>G (n.*2203C>G)
c.2451C>G (p.Ser817Arg)
10g.74107243C>TCA470164026VCLc.2448C>T (p.Ser816=)
c.1464C>T (p.Ser488=)
n.440C>T
n.5251C>T
c.*2203C>T (n.*2203C>T)
c.2451C>T (p.Ser817=)
10g.74107244T>ACA377263551VCLc.2449T>A (p.Phe817Ile)
c.1465T>A (p.Phe489Ile)
n.441T>A
n.5252T>A
c.*2204T>A (n.*2204T>A)
c.2452T>A (p.Phe818Ile)
10g.74107244T>CCA377263552VCLc.2449T>C (p.Phe817Leu)
c.1465T>C (p.Phe489Leu)
n.441T>C
n.5252T>C
c.*2204T>C (n.*2204T>C)
c.2452T>C (p.Phe818Leu)
10g.74107244T>GCA377263553VCLc.2449T>G (p.Phe817Val)
c.1465T>G (p.Phe489Val)
n.441T>G
n.5252T>G
c.*2204T>G (n.*2204T>G)
c.2452T>G (p.Phe818Val)
10g.74107245T>ACA377263555VCLc.2450T>A (p.Phe817Tyr)
c.1466T>A (p.Phe489Tyr)
n.442T>A
n.5253T>A
c.*2205T>A (n.*2205T>A)
c.2453T>A (p.Phe818Tyr)
10g.74107245T>CCA377263556VCLc.2450T>C (p.Phe817Ser)
c.1466T>C (p.Phe489Ser)
n.442T>C
n.5253T>C
c.*2205T>C (n.*2205T>C)
c.2453T>C (p.Phe818Ser)
10g.74107245T>GCA377263554VCLc.2450T>G (p.Phe817Cys)
c.1466T>G (p.Phe489Cys)
n.442T>G
n.5253T>G
c.*2205T>G (n.*2205T>G)
c.2453T>G (p.Phe818Cys)
gnomAD v4
10g.74107246C>ACA377263557VCLc.2451C>A (p.Phe817Leu)
c.1467C>A (p.Phe489Leu)
n.443C>A
n.5254C>A
c.*2206C>A (n.*2206C>A)
c.2454C>A (p.Phe818Leu)
10g.74107246C>GCA377263558VCLc.2451C>G (p.Phe817Leu)
c.1467C>G (p.Phe489Leu)
n.443C>G
n.5254C>G
c.*2206C>G (n.*2206C>G)
c.2454C>G (p.Phe818Leu)
10g.74107246C>TCA470164031VCLc.2451C>T (p.Phe817=)
c.1467C>T (p.Phe489=)
n.443C>T
n.5254C>T
c.*2206C>T (n.*2206C>T)
c.2454C>T (p.Phe818=)
10g.74107247C>ACA377263559VCLc.2452C>A (p.Leu818Met)
c.1468C>A (p.Leu490Met)
n.444C>A
n.5255C>A
c.*2207C>A (n.*2207C>A)
c.2455C>A (p.Leu819Met)
10g.74107247C>GCA377263560VCLc.2452C>G (p.Leu818Val)
c.1468C>G (p.Leu490Val)
n.444C>G
n.5255C>G
c.*2207C>G (n.*2207C>G)
c.2455C>G (p.Leu819Val)
ClinVar
10g.74107247C>TCA470164035VCLc.2452C>T (p.Leu818=)
c.1468C>T (p.Leu490=)
n.444C>T
n.5255C>T
c.*2207C>T (n.*2207C>T)
c.2455C>T (p.Leu819=)
10g.74107248T>ACA240906VCLc.2453T>A (p.Leu818Gln)
c.1469T>A (p.Leu490Gln)
n.445T>A
n.5256T>A
c.*2208T>A (n.*2208T>A)
c.2456T>A (p.Leu819Gln)
ClinVar dbSNP
10g.74107248T>CCA377263562VCLc.2453T>C (p.Leu818Pro)
c.1469T>C (p.Leu490Pro)
n.445T>C
n.5256T>C
c.*2208T>C (n.*2208T>C)
c.2456T>C (p.Leu819Pro)
10g.74107248T>GCA377263561VCLc.2453T>G (p.Leu818Arg)
c.1469T>G (p.Leu490Arg)
n.445T>G
n.5256T>G
c.*2208T>G (n.*2208T>G)
c.2456T>G (p.Leu819Arg)
10g.74107248T=CA1919898894VCLc.2453T= (p.Leu818=)
c.1469T= (p.Leu490=)
n.445T=
n.5256T=
c.*2208T= (n.*2208T=)
c.2456T= (p.Leu819=)
10g.74107249G>ACA5563231VCLc.2454G>A (p.Leu818=)
c.1470G>A (p.Leu490=)
n.446G>A
n.5257G>A
c.*2209G>A (n.*2209G>A)
c.2457G>A (p.Leu819=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.74107249G>CCA470164037VCLc.2454G>C (p.Leu818=)
c.1470G>C (p.Leu490=)
n.446G>C
n.5257G>C
c.*2209G>C (n.*2209G>C)
c.2457G>C (p.Leu819=)
10g.74107249G=CA1919898899VCLc.2454G= (p.Leu818=)
c.1470G= (p.Leu490=)
n.446G=
n.5257G=
c.*2209G= (n.*2209G=)
c.2457G= (p.Leu819=)
10g.74107249G>TCA470164038VCLc.2454G>T (p.Leu818=)
c.1470G>T (p.Leu490=)
n.446G>T
n.5257G>T
c.*2209G>T (n.*2209G>T)
c.2457G>T (p.Leu819=)
10g.74107250G>ACA377263563VCLc.2455G>A (p.Asp819Asn)
c.1471G>A (p.Asp491Asn)
n.447G>A
n.5258G>A
c.*2210G>A (n.*2210G>A)
c.2458G>A (p.Asp820Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74107250G>CCA377263564VCLc.2455G>C (p.Asp819His)
c.1471G>C (p.Asp491His)
n.447G>C
n.5258G>C
c.*2210G>C (n.*2210G>C)
c.2458G>C (p.Asp820His)
10g.74107250G=CA1919898905VCLc.2455G= (p.Asp819=)
c.1471G= (p.Asp491=)
n.447G=
n.5258G=
c.*2210G= (n.*2210G=)
c.2458G= (p.Asp820=)
10g.74107250G>TCA377263565VCLc.2455G>T (p.Asp819Tyr)
c.1471G>T (p.Asp491Tyr)
n.447G>T
n.5258G>T
c.*2210G>T (n.*2210G>T)
c.2458G>T (p.Asp820Tyr)
10g.74107251A>CCA377263566VCLc.2456A>C (p.Asp819Ala)
c.1472A>C (p.Asp491Ala)
n.448A>C
n.5259A>C
c.*2211A>C (n.*2211A>C)
c.2459A>C (p.Asp820Ala)
10g.74107251A>GCA377263567VCLc.2456A>G (p.Asp819Gly)
c.1472A>G (p.Asp491Gly)
n.448A>G
n.5259A>G
c.*2211A>G (n.*2211A>G)
c.2459A>G (p.Asp820Gly)
10g.74107251A>TCA377263568VCLc.2456A>T (p.Asp819Val)
c.1472A>T (p.Asp491Val)
n.448A>T
n.5259A>T
c.*2211A>T (n.*2211A>T)
c.2459A>T (p.Asp820Val)
10g.74107252C>ACA377263569VCLc.2457C>A (p.Asp819Glu)
c.1473C>A (p.Asp491Glu)
n.449C>A
n.5260C>A
c.*2212C>A (n.*2212C>A)
c.2460C>A (p.Asp820Glu)
dbSNP
10g.74107252C=CA1919898910VCLc.2457C= (p.Asp819=)
c.1473C= (p.Asp491=)
n.449C=
n.5260C=
c.*2212C= (n.*2212C=)
c.2460C= (p.Asp820=)
10g.74107252C>GCA377263570VCLc.2457C>G (p.Asp819Glu)
c.1473C>G (p.Asp491Glu)
n.449C>G
n.5260C>G
c.*2212C>G (n.*2212C>G)
c.2460C>G (p.Asp820Glu)
10g.74107252C>TCA470164040VCLc.2457C>T (p.Asp819=)
c.1473C>T (p.Asp491=)
n.449C>T
n.5260C>T
c.*2212C>T (n.*2212C>T)
c.2460C>T (p.Asp820=)
10g.74107253T>ACA377263571VCLc.2458T>A (p.Ser820Thr)
c.1474T>A (p.Ser492Thr)
n.450T>A
n.5261T>A
c.*2213T>A (n.*2213T>A)
c.2461T>A (p.Ser821Thr)
10g.74107253T>CCA377263572VCLc.2458T>C (p.Ser820Pro)
c.1474T>C (p.Ser492Pro)
n.450T>C
n.5261T>C
c.*2213T>C (n.*2213T>C)
c.2461T>C (p.Ser821Pro)
10g.74107253T>GCA377263573VCLc.2458T>G (p.Ser820Ala)
c.1474T>G (p.Ser492Ala)
n.450T>G
n.5261T>G
c.*2213T>G (n.*2213T>G)
c.2461T>G (p.Ser821Ala)
10g.74107254C>ACA377263574VCLc.2459C>A (p.Ser820Ter)
c.1475C>A (p.Ser492Ter)
n.451C>A
n.5262C>A
c.*2214C>A (n.*2214C>A)
c.2462C>A (p.Ser821Ter)
10g.74107254C=CA1919898914VCLc.2459C= (p.Ser820=)
c.1475C= (p.Ser492=)
n.451C=
n.5262C=
c.*2214C= (n.*2214C=)
c.2462C= (p.Ser821=)
10g.74107254C>GCA377263575VCLc.2459C>G (p.Ser820Ter)
c.1475C>G (p.Ser492Ter)
n.451C>G
n.5262C>G
c.*2214C>G (n.*2214C>G)
c.2462C>G (p.Ser821Ter)
10g.74107254C>TCA377263576VCLc.2459C>T (p.Ser820Leu)
c.1475C>T (p.Ser492Leu)
n.451C>T
n.5262C>T
c.*2214C>T (n.*2214C>T)
c.2462C>T (p.Ser821Leu)
dbSNP
10g.74107255A=CA1919898917VCLc.2460A= (p.Ser820=)
c.1476A= (p.Ser492=)
n.452A=
n.5263A=
c.*2215A= (n.*2215A=)
c.2463A= (p.Ser821=)
10g.74107255A>CCA470164043VCLc.2460A>C (p.Ser820=)
c.1476A>C (p.Ser492=)
n.452A>C
n.5263A>C
c.*2215A>C (n.*2215A>C)
c.2463A>C (p.Ser821=)
10g.74107255A>GCA5563232VCLc.2460A>G (p.Ser820=)
c.1476A>G (p.Ser492=)
n.452A>G
n.5263A>G
c.*2215A>G (n.*2215A>G)
c.2463A>G (p.Ser821=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107255A>TCA470164042VCLc.2460A>T (p.Ser820=)
c.1476A>T (p.Ser492=)
n.452A>T
n.5263A>T
c.*2215A>T (n.*2215A>T)
c.2463A>T (p.Ser821=)
10g.74107256G>ACA377263577VCLc.2461G>A (p.Gly821Arg)
c.1477G>A (p.Gly493Arg)
n.453G>A
n.5264G>A
c.*2216G>A (n.*2216G>A)
c.2464G>A (p.Gly822Arg)
10g.74107256G>CCA377263578VCLc.2461G>C (p.Gly821Arg)
c.1477G>C (p.Gly493Arg)
n.453G>C
n.5264G>C
c.*2216G>C (n.*2216G>C)
c.2464G>C (p.Gly822Arg)
10g.74107256G>TCA377263579VCLc.2461G>T (p.Gly821Ter)
c.1477G>T (p.Gly493Ter)
n.453G>T
n.5264G>T
c.*2216G>T (n.*2216G>T)
c.2464G>T (p.Gly822Ter)
10g.74107257G>ACA377263580VCLc.2462G>A (p.Gly821Glu)
c.1478G>A (p.Gly493Glu)
n.454G>A
n.5265G>A
c.*2217G>A (n.*2217G>A)
c.2465G>A (p.Gly822Glu)
10g.74107257G>CCA377263581VCLc.2462G>C (p.Gly821Ala)
c.1478G>C (p.Gly493Ala)
n.454G>C
n.5265G>C
c.*2217G>C (n.*2217G>C)
c.2465G>C (p.Gly822Ala)
10g.74107257G>TCA377263582VCLc.2462G>T (p.Gly821Val)
c.1478G>T (p.Gly493Val)
n.454G>T
n.5265G>T
c.*2217G>T (n.*2217G>T)
c.2465G>T (p.Gly822Val)
10g.74107258A>CCA470164047VCLc.2463A>C (p.Gly821=)
c.1479A>C (p.Gly493=)
n.455A>C
n.5266A>C
c.*2218A>C (n.*2218A>C)
c.2466A>C (p.Gly822=)
10g.74107258A>GCA470164049VCLc.2463A>G (p.Gly821=)
c.1479A>G (p.Gly493=)
n.455A>G
n.5266A>G
c.*2218A>G (n.*2218A>G)
c.2466A>G (p.Gly822=)
10g.74107258A>TCA470164048VCLc.2463A>T (p.Gly821=)
c.1479A>T (p.Gly493=)
n.455A>T
n.5266A>T
c.*2218A>T (n.*2218A>T)
c.2466A>T (p.Gly822=)
10g.74107259T>ACA377263584VCLc.2464T>A (p.Tyr822Asn)
c.1480T>A (p.Tyr494Asn)
n.456T>A
n.5267T>A
c.*2219T>A (n.*2219T>A)
c.2467T>A (p.Tyr823Asn)
10g.74107259T>CCA5563233VCLc.2464T>C (p.Tyr822His)
c.1480T>C (p.Tyr494His)
n.456T>C
n.5267T>C
c.*2219T>C (n.*2219T>C)
c.2467T>C (p.Tyr823His)
dbSNP ExAC
10g.74107259T>GCA377263583VCLc.2464T>G (p.Tyr822Asp)
c.1480T>G (p.Tyr494Asp)
n.456T>G
n.5267T>G
c.*2219T>G (n.*2219T>G)
c.2467T>G (p.Tyr823Asp)
10g.74107259T=CA1919898921VCLc.2464T= (p.Tyr822=)
c.1480T= (p.Tyr494=)
n.456T=
n.5267T=
c.*2219T= (n.*2219T=)
c.2467T= (p.Tyr823=)
10g.74107260A=CA1919898927VCLc.2465A= (p.Tyr822=)
c.1481A= (p.Tyr494=)
n.457A=
n.5268A=
c.*2220A= (n.*2220A=)
c.2468A= (p.Tyr823=)
10g.74107260A>CCA377263585VCLc.2465A>C (p.Tyr822Ser)
c.1481A>C (p.Tyr494Ser)
n.457A>C
n.5268A>C
c.*2220A>C (n.*2220A>C)
c.2468A>C (p.Tyr823Ser)
10g.74107260A>GCA377263586VCLc.2465A>G (p.Tyr822Cys)
c.1481A>G (p.Tyr494Cys)
n.457A>G
n.5268A>G
c.*2220A>G (n.*2220A>G)
c.2468A>G (p.Tyr823Cys)
ClinVar dbSNP COSMIC
10g.74107260A>TCA377263587VCLc.2465A>T (p.Tyr822Phe)
c.1481A>T (p.Tyr494Phe)
n.457A>T
n.5268A>T
c.*2220A>T (n.*2220A>T)
c.2468A>T (p.Tyr823Phe)
10g.74107261T>ACA377263588VCLc.2466T>A (p.Tyr822Ter)
c.1482T>A (p.Tyr494Ter)
n.458T>A
n.5269T>A
c.*2221T>A (n.*2221T>A)
c.2469T>A (p.Tyr823Ter)
10g.74107261T>CCA470164054VCLc.2466T>C (p.Tyr822=)
c.1482T>C (p.Tyr494=)
n.458T>C
n.5269T>C
c.*2221T>C (n.*2221T>C)
c.2469T>C (p.Tyr823=)
10g.74107261T>GCA377263589VCLc.2466T>G (p.Tyr822Ter)
c.1482T>G (p.Tyr494Ter)
n.458T>G
n.5269T>G
c.*2221T>G (n.*2221T>G)
c.2469T>G (p.Tyr823Ter)
10g.74107262C>ACA470164055VCLc.2467C>A (p.Arg823=)
c.1483C>A (p.Arg495=)
n.459C>A
n.5270C>A
c.*2222C>A (n.*2222C>A)
c.2470C>A (p.Arg824=)
10g.74107262C=CA1919898928VCLc.2467C= (p.Arg823=)
c.1483C= (p.Arg495=)
n.459C=
n.5270C=
c.*2222C= (n.*2222C=)
c.2470C= (p.Arg824=)
10g.74107262C>GCA377263590VCLc.2467C>G (p.Arg823Gly)
c.1483C>G (p.Arg495Gly)
n.459C>G
n.5270C>G
c.*2222C>G (n.*2222C>G)
c.2470C>G (p.Arg824Gly)
gnomAD v4
10g.74107262C>TCA335601VCLc.2467C>T (p.Arg823Trp)
c.1483C>T (p.Arg495Trp)
n.459C>T
n.5270C>T
c.*2222C>T (n.*2222C>T)
c.2470C>T (p.Arg824Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.74107263G>ACA080873VCLc.2468G>A (p.Arg823Gln)
c.1484G>A (p.Arg495Gln)
n.460G>A
n.5271G>A
c.*2223G>A (n.*2223G>A)
c.2471G>A (p.Arg824Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107263G>CCA377263591VCLc.2468G>C (p.Arg823Pro)
c.1484G>C (p.Arg495Pro)
n.460G>C
n.5271G>C
c.*2223G>C (n.*2223G>C)
c.2471G>C (p.Arg824Pro)
10g.74107263G=CA1919898934VCLc.2468G= (p.Arg823=)
c.1484G= (p.Arg495=)
n.460G=
n.5271G=
c.*2223G= (n.*2223G=)
c.2471G= (p.Arg824=)
10g.74107263G>TCA377263592VCLc.2468G>T (p.Arg823Leu)
c.1484G>T (p.Arg495Leu)
n.460G>T
n.5271G>T
c.*2223G>T (n.*2223G>T)
c.2471G>T (p.Arg824Leu)
10g.74107264G>ACA470164057VCLc.2469G>A (p.Arg823=)
c.1485G>A (p.Arg495=)
n.461G>A
n.5272G>A
c.*2224G>A (n.*2224G>A)
c.2472G>A (p.Arg824=)
10g.74107264G>CCA470164058VCLc.2469G>C (p.Arg823=)
c.1485G>C (p.Arg495=)
n.461G>C
n.5272G>C
c.*2224G>C (n.*2224G>C)
c.2472G>C (p.Arg824=)
10g.74107264G>TCA470164059VCLc.2469G>T (p.Arg823=)
c.1485G>T (p.Arg495=)
n.461G>T
n.5272G>T
c.*2224G>T (n.*2224G>T)
c.2472G>T (p.Arg824=)
10g.74107265A>CCA377263593VCLc.2470A>C (p.Ile824Leu)
c.1486A>C (p.Ile496Leu)
n.462A>C
n.5273A>C
c.*2225A>C (n.*2225A>C)
c.2473A>C (p.Ile825Leu)
10g.74107265A>GCA377263594VCLc.2470A>G (p.Ile824Val)
c.1486A>G (p.Ile496Val)
n.462A>G
n.5273A>G
c.*2225A>G (n.*2225A>G)
c.2473A>G (p.Ile825Val)
10g.74107265A>TCA377263595VCLc.2470A>T (p.Ile824Phe)
c.1486A>T (p.Ile496Phe)
n.462A>T
n.5273A>T
c.*2225A>T (n.*2225A>T)
c.2473A>T (p.Ile825Phe)
10g.74107266T>ACA377263598VCLc.2471T>A (p.Ile824Asn)
c.1487T>A (p.Ile496Asn)
n.463T>A
n.5274T>A
c.*2226T>A (n.*2226T>A)
c.2474T>A (p.Ile825Asn)
gnomAD v4
10g.74107266T>CCA377263597VCLc.2471T>C (p.Ile824Thr)
c.1487T>C (p.Ile496Thr)
n.463T>C
n.5274T>C
c.*2226T>C (n.*2226T>C)
c.2474T>C (p.Ile825Thr)
10g.74107266T>GCA377263596VCLc.2471T>G (p.Ile824Ser)
c.1487T>G (p.Ile496Ser)
n.463T>G
n.5274T>G
c.*2226T>G (n.*2226T>G)
c.2474T>G (p.Ile825Ser)
10g.74107267C>ACA470164065VCLc.2472C>A (p.Ile824=)
c.1488C>A (p.Ile496=)
n.464C>A
n.5275C>A
c.*2227C>A (n.*2227C>A)
c.2475C>A (p.Ile825=)
10g.74107267C=CA1919898947VCLc.2472C= (p.Ile824=)
c.1488C= (p.Ile496=)
n.464C=
n.5275C=
c.*2227C= (n.*2227C=)
c.2475C= (p.Ile825=)
10g.74107267C>GCA5563234VCLc.2472C>G (p.Ile824Met)
c.1488C>G (p.Ile496Met)
n.464C>G
n.5275C>G
c.*2227C>G (n.*2227C>G)
c.2475C>G (p.Ile825Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107267C>TCA470164066VCLc.2472C>T (p.Ile824=)
c.1488C>T (p.Ile496=)
n.464C>T
n.5275C>T
c.*2227C>T (n.*2227C>T)
c.2475C>T (p.Ile825=)
10g.74107268C>ACA377263600VCLc.2473C>A (p.Leu825Met)
c.1489C>A (p.Leu497Met)
n.465C>A
n.5276C>A
c.*2228C>A (n.*2228C>A)
c.2476C>A (p.Leu826Met)
10g.74107268C>GCA377263599VCLc.2473C>G (p.Leu825Val)
c.1489C>G (p.Leu497Val)
n.465C>G
n.5276C>G
c.*2228C>G (n.*2228C>G)
c.2476C>G (p.Leu826Val)
10g.74107268C>TCA470164067VCLc.2473C>T (p.Leu825=)
c.1489C>T (p.Leu497=)
n.465C>T
n.5276C>T
c.*2228C>T (n.*2228C>T)
c.2476C>T (p.Leu826=)
gnomAD v4
10g.74107269T>ACA377263604VCLc.2474T>A (p.Leu825Gln)
c.1490T>A (p.Leu497Gln)
n.466T>A
n.5277T>A
c.*2229T>A (n.*2229T>A)
c.2477T>A (p.Leu826Gln)
10g.74107269T>CCA377263601VCLc.2474T>C (p.Leu825Pro)
c.1490T>C (p.Leu497Pro)
n.466T>C
n.5277T>C
c.*2229T>C (n.*2229T>C)
c.2477T>C (p.Leu826Pro)
10g.74107269T>GCA377263602VCLc.2474T>G (p.Leu825Arg)
c.1490T>G (p.Leu497Arg)
n.466T>G
n.5277T>G
c.*2229T>G (n.*2229T>G)
c.2477T>G (p.Leu826Arg)
10g.74107270G>ACA470164072VCLc.2475G>A (p.Leu825=)
c.1491G>A (p.Leu497=)
n.467G>A
n.5278G>A
c.*2230G>A (n.*2230G>A)
c.2478G>A (p.Leu826=)
10g.74107270G>CCA470164073VCLc.2475G>C (p.Leu825=)
c.1491G>C (p.Leu497=)
n.467G>C
n.5278G>C
c.*2230G>C (n.*2230G>C)
c.2478G>C (p.Leu826=)
10g.74107270G>TCA470164074VCLc.2475G>T (p.Leu825=)
c.1491G>T (p.Leu497=)
n.467G>T
n.5278G>T
c.*2230G>T (n.*2230G>T)
c.2478G>T (p.Leu826=)
10g.74107271G>ACA377263606VCLc.2476G>A (p.Gly826Arg)
c.1492G>A (p.Gly498Arg)
n.468G>A
n.5279G>A
c.*2231G>A (n.*2231G>A)
c.2479G>A (p.Gly827Arg)
10g.74107271G>CCA377263608VCLc.2476G>C (p.Gly826Arg)
c.1492G>C (p.Gly498Arg)
n.468G>C
n.5279G>C
c.*2231G>C (n.*2231G>C)
c.2479G>C (p.Gly827Arg)
10g.74107271G>TCA377263609VCLc.2476G>T (p.Gly826Ter)
c.1492G>T (p.Gly498Ter)
n.468G>T
n.5279G>T
c.*2231G>T (n.*2231G>T)
c.2479G>T (p.Gly827Ter)
10g.74107272G>ACA377263614VCLc.2477G>A (p.Gly826Glu)
c.1493G>A (p.Gly498Glu)
n.469G>A
n.5280G>A
c.*2232G>A (n.*2232G>A)
c.2480G>A (p.Gly827Glu)
10g.74107272G>CCA377263612VCLc.2477G>C (p.Gly826Ala)
c.1493G>C (p.Gly498Ala)
n.469G>C
n.5280G>C
c.*2232G>C (n.*2232G>C)
c.2480G>C (p.Gly827Ala)
10g.74107272G>TCA377263610VCLc.2477G>T (p.Gly826Val)
c.1493G>T (p.Gly498Val)
n.469G>T
n.5280G>T
c.*2232G>T (n.*2232G>T)
c.2480G>T (p.Gly827Val)
10g.74107273A>CCA470164081VCLc.2478A>C (p.Gly826=)
c.1494A>C (p.Gly498=)
n.470A>C
n.5281A>C
c.*2233A>C (n.*2233A>C)
c.2481A>C (p.Gly827=)
10g.74107273A>GCA470164079VCLc.2478A>G (p.Gly826=)
c.1494A>G (p.Gly498=)
n.470A>G
n.5281A>G
c.*2233A>G (n.*2233A>G)
c.2481A>G (p.Gly827=)
ClinVar dbSNP
10g.74107273A>TCA470164080VCLc.2478A>T (p.Gly826=)
c.1494A>T (p.Gly498=)
n.470A>T
n.5281A>T
c.*2233A>T (n.*2233A>T)
c.2481A>T (p.Gly827=)
10g.74107274G>ACA377263616VCLc.2479G>A (p.Ala827Thr)
c.1495G>A (p.Ala499Thr)
n.471G>A
n.5282G>A
c.*2234G>A (n.*2234G>A)
c.2482G>A (p.Ala828Thr)
10g.74107274G>CCA377263617VCLc.2479G>C (p.Ala827Pro)
c.1495G>C (p.Ala499Pro)
n.471G>C
n.5282G>C
c.*2234G>C (n.*2234G>C)
c.2482G>C (p.Ala828Pro)
10g.74107274G>TCA377263619VCLc.2479G>T (p.Ala827Ser)
c.1495G>T (p.Ala499Ser)
n.471G>T
n.5282G>T
c.*2234G>T (n.*2234G>T)
c.2482G>T (p.Ala828Ser)
10g.74107275C>ACA377263621VCLc.2480C>A (p.Ala827Asp)
c.1496C>A (p.Ala499Asp)
n.472C>A
n.5283C>A
c.*2235C>A (n.*2235C>A)
c.2483C>A (p.Ala828Asp)
10g.74107275C>GCA377263623VCLc.2480C>G (p.Ala827Gly)
c.1496C>G (p.Ala499Gly)
n.472C>G
n.5283C>G
c.*2235C>G (n.*2235C>G)
c.2483C>G (p.Ala828Gly)
10g.74107275C>TCA377263624VCLc.2480C>T (p.Ala827Val)
c.1496C>T (p.Ala499Val)
n.472C>T
n.5283C>T
c.*2235C>T (n.*2235C>T)
c.2483C>T (p.Ala828Val)
ClinVar dbSNP gnomAD v4
10g.74107276T>ACA470164082VCLc.2481T>A (p.Ala827=)
c.1497T>A (p.Ala499=)
n.473T>A
n.5284T>A
c.*2236T>A (n.*2236T>A)
c.2484T>A (p.Ala828=)
10g.74107276T>CCA470164083VCLc.2481T>C (p.Ala827=)
c.1497T>C (p.Ala499=)
n.473T>C
n.5284T>C
c.*2236T>C (n.*2236T>C)
c.2484T>C (p.Ala828=)
10g.74107276T>GCA470164085VCLc.2481T>G (p.Ala827=)
c.1497T>G (p.Ala499=)
n.473T>G
n.5284T>G
c.*2236T>G (n.*2236T>G)
c.2484T>G (p.Ala828=)
10g.74107277G>ACA377263629VCLc.2482G>A (p.Val828Met)
c.1498G>A (p.Val500Met)
n.474G>A
n.5285G>A
c.*2237G>A (n.*2237G>A)
c.2485G>A (p.Val829Met)
10g.74107277G>CCA377263625VCLc.2482G>C (p.Val828Leu)
c.1498G>C (p.Val500Leu)
n.474G>C
n.5285G>C
c.*2237G>C (n.*2237G>C)
c.2485G>C (p.Val829Leu)
10g.74107277G>TCA377263627VCLc.2482G>T (p.Val828Leu)
c.1498G>T (p.Val500Leu)
n.474G>T
n.5285G>T
c.*2237G>T (n.*2237G>T)
c.2485G>T (p.Val829Leu)
10g.74107278T>ACA377263631VCLc.2483T>A (p.Val828Glu)
c.1499T>A (p.Val500Glu)
n.475T>A
n.5286T>A
c.*2238T>A (n.*2238T>A)
c.2486T>A (p.Val829Glu)
10g.74107278T>CCA377263632VCLc.2483T>C (p.Val828Ala)
c.1499T>C (p.Val500Ala)
n.475T>C
n.5286T>C
c.*2238T>C (n.*2238T>C)
c.2486T>C (p.Val829Ala)
10g.74107278T>GCA377263635VCLc.2483T>G (p.Val828Gly)
c.1499T>G (p.Val500Gly)
n.475T>G
n.5286T>G
c.*2238T>G (n.*2238T>G)
c.2486T>G (p.Val829Gly)
10g.74107279G>ACA470164090VCLc.2484G>A (p.Val828=)
c.1500G>A (p.Val500=)
n.476G>A
n.5287G>A
c.*2239G>A (n.*2239G>A)
c.2487G>A (p.Val829=)
10g.74107279G>CCA470164091VCLc.2484G>C (p.Val828=)
c.1500G>C (p.Val500=)
n.476G>C
n.5287G>C
c.*2239G>C (n.*2239G>C)
c.2487G>C (p.Val829=)
10g.74107279G>TCA470164092VCLc.2484G>T (p.Val828=)
c.1500G>T (p.Val500=)
n.476G>T
n.5287G>T
c.*2239G>T (n.*2239G>T)
c.2487G>T (p.Val829=)
10g.74107280G>ACA377263637VCLc.2485G>A (p.Ala829Thr)
c.1501G>A (p.Ala501Thr)
n.477G>A
n.5288G>A
c.*2240G>A (n.*2240G>A)
c.2488G>A (p.Ala830Thr)
10g.74107280G>CCA377263638VCLc.2485G>C (p.Ala829Pro)
c.1501G>C (p.Ala501Pro)
n.477G>C
n.5288G>C
c.*2240G>C (n.*2240G>C)
c.2488G>C (p.Ala830Pro)
10g.74107280G>TCA377263640VCLc.2485G>T (p.Ala829Ser)
c.1501G>T (p.Ala501Ser)
n.477G>T
n.5288G>T
c.*2240G>T (n.*2240G>T)
c.2488G>T (p.Ala830Ser)
10g.74107281C>ACA377263642VCLc.2486C>A (p.Ala829Asp)
c.1502C>A (p.Ala501Asp)
n.478C>A
n.5289C>A
c.*2241C>A (n.*2241C>A)
c.2489C>A (p.Ala830Asp)
10g.74107281C>GCA377263644VCLc.2486C>G (p.Ala829Gly)
c.1502C>G (p.Ala501Gly)
n.478C>G
n.5289C>G
c.*2241C>G (n.*2241C>G)
c.2489C>G (p.Ala830Gly)
10g.74107281C>TCA377263645VCLc.2486C>T (p.Ala829Val)
c.1502C>T (p.Ala501Val)
n.478C>T
n.5289C>T
c.*2241C>T (n.*2241C>T)
c.2489C>T (p.Ala830Val)
10g.74107282C>ACA470164098VCLc.2487C>A (p.Ala829=)
c.1503C>A (p.Ala501=)
n.479C>A
n.5290C>A
c.*2242C>A (n.*2242C>A)
c.2490C>A (p.Ala830=)
10g.74107282C>GCA470164099VCLc.2487C>G (p.Ala829=)
c.1503C>G (p.Ala501=)
n.479C>G
n.5290C>G
c.*2242C>G (n.*2242C>G)
c.2490C>G (p.Ala830=)
10g.74107282C>TCA470164100VCLc.2487C>T (p.Ala829=)
c.1503C>T (p.Ala501=)
n.479C>T
n.5290C>T
c.*2242C>T (n.*2242C>T)
c.2490C>T (p.Ala830=)
10g.74107283A>CCA377263647VCLc.2488A>C (p.Lys830Gln)
c.1504A>C (p.Lys502Gln)
n.480A>C
n.5291A>C
c.*2243A>C (n.*2243A>C)
c.2491A>C (p.Lys831Gln)
10g.74107283A>GCA377263649VCLc.2488A>G (p.Lys830Glu)
c.1504A>G (p.Lys502Glu)
n.480A>G
n.5291A>G
c.*2243A>G (n.*2243A>G)
c.2491A>G (p.Lys831Glu)
10g.74107283A>TCA377263651VCLc.2488A>T (p.Lys830Ter)
c.1504A>T (p.Lys502Ter)
n.480A>T
n.5291A>T
c.*2243A>T (n.*2243A>T)
c.2491A>T (p.Lys831Ter)
10g.74107284A>CCA377263652VCLc.2489A>C (p.Lys830Thr)
c.1505A>C (p.Lys502Thr)
n.481A>C
n.5292A>C
c.*2244A>C (n.*2244A>C)
c.2492A>C (p.Lys831Thr)
10g.74107284A>GCA377263655VCLc.2489A>G (p.Lys830Arg)
c.1505A>G (p.Lys502Arg)
n.481A>G
n.5292A>G
c.*2244A>G (n.*2244A>G)
c.2492A>G (p.Lys831Arg)
ClinVar dbSNP
10g.74107284A>TCA377263653VCLc.2489A>T (p.Lys830Met)
c.1505A>T (p.Lys502Met)
n.481A>T
n.5292A>T
c.*2244A>T (n.*2244A>T)
c.2492A>T (p.Lys831Met)
10g.74107285G>ACA470164104VCLc.2490G>A (p.Lys830=)
c.1506G>A (p.Lys502=)
n.482G>A
n.5293G>A
c.*2245G>A (n.*2245G>A)
c.2493G>A (p.Lys831=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.74107285G>CCA377263657VCLc.2490G>C (p.Lys830Asn)
c.1506G>C (p.Lys502Asn)
n.482G>C
n.5293G>C
c.*2245G>C (n.*2245G>C)
c.2493G>C (p.Lys831Asn)
10g.74107285G=CA1919898955VCLc.2490G= (p.Lys830=)
c.1506G= (p.Lys502=)
n.482G=
n.5293G=
c.*2245G= (n.*2245G=)
c.2493G= (p.Lys831=)
10g.74107285G>TCA377263658VCLc.2490G>T (p.Lys830Asn)
c.1506G>T (p.Lys502Asn)
n.482G>T
n.5293G>T
c.*2245G>T (n.*2245G>T)
c.2493G>T (p.Lys831Asn)
10g.74107286G>ACA377263660VCLc.2491G>A (p.Val831Ile)
c.1507G>A (p.Val503Ile)
n.483G>A
n.5294G>A
c.*2246G>A (n.*2246G>A)
c.2494G>A (p.Val832Ile)
gnomAD v4
10g.74107286G>CCA377263662VCLc.2491G>C (p.Val831Leu)
c.1507G>C (p.Val503Leu)
n.483G>C
n.5294G>C
c.*2246G>C (n.*2246G>C)
c.2494G>C (p.Val832Leu)
10g.74107286G>TCA377263664VCLc.2491G>T (p.Val831Phe)
c.1507G>T (p.Val503Phe)
n.483G>T
n.5294G>T
c.*2246G>T (n.*2246G>T)
c.2494G>T (p.Val832Phe)
10g.74107287T>ACA377263665VCLc.2492T>A (p.Val831Asp)
c.1508T>A (p.Val503Asp)
n.484T>A
n.5295T>A
c.*2247T>A (n.*2247T>A)
c.2495T>A (p.Val832Asp)
10g.74107287T>CCA377263667VCLc.2492T>C (p.Val831Ala)
c.1508T>C (p.Val503Ala)
n.484T>C
n.5295T>C
c.*2247T>C (n.*2247T>C)
c.2495T>C (p.Val832Ala)
10g.74107287T>GCA377263669VCLc.2492T>G (p.Val831Gly)
c.1508T>G (p.Val503Gly)
n.484T>G
n.5295T>G
c.*2247T>G (n.*2247T>G)
c.2495T>G (p.Val832Gly)
10g.74107288C>ACA470164108VCLc.2493C>A (p.Val831=)
c.1509C>A (p.Val503=)
n.485C>A
n.5296C>A
c.*2248C>A (n.*2248C>A)
c.2496C>A (p.Val832=)
ClinVar dbSNP
10g.74107288C>GCA470164107VCLc.2493C>G (p.Val831=)
c.1509C>G (p.Val503=)
n.485C>G
n.5296C>G
c.*2248C>G (n.*2248C>G)
c.2496C>G (p.Val832=)
10g.74107288C>TCA470164106VCLc.2493C>T (p.Val831=)
c.1509C>T (p.Val503=)
n.485C>T
n.5296C>T
c.*2248C>T (n.*2248C>T)
c.2496C>T (p.Val832=)
10g.74107289A>CCA470164110VCLc.2494A>C (p.Arg832=)
c.1510A>C (p.Arg504=)
n.486A>C
n.5297A>C
c.*2249A>C (n.*2249A>C)
c.2497A>C (p.Arg833=)
10g.74107289A>GCA377263671VCLc.2494A>G (p.Arg832Gly)
c.1510A>G (p.Arg504Gly)
n.486A>G
n.5297A>G
c.*2249A>G (n.*2249A>G)
c.2497A>G (p.Arg833Gly)
10g.74107289A>TCA377263672VCLc.2494A>T (p.Arg832Ter)
c.1510A>T (p.Arg504Ter)
n.486A>T
n.5297A>T
c.*2249A>T (n.*2249A>T)
c.2497A>T (p.Arg833Ter)
10g.74107290G>ACA377263675VCLc.2495G>A (p.Arg832Lys)
c.1511G>A (p.Arg504Lys)
n.487G>A
n.5298G>A
c.*2250G>A (n.*2250G>A)
c.2498G>A (p.Arg833Lys)
gnomAD v4
10g.74107290G>CCA377263677VCLc.2495G>C (p.Arg832Thr)
c.1511G>C (p.Arg504Thr)
n.487G>C
n.5298G>C
c.*2250G>C (n.*2250G>C)
c.2498G>C (p.Arg833Thr)
10g.74107290G>TCA377263678VCLc.2495G>T (p.Arg832Ile)
c.1511G>T (p.Arg504Ile)
n.487G>T
n.5298G>T
c.*2250G>T (n.*2250G>T)
c.2498G>T (p.Arg833Ile)
10g.74107291A>CCA377263680VCLc.2496A>C (p.Arg832Ser)
c.1512A>C (p.Arg504Ser)
n.488A>C
n.5299A>C
c.*2251A>C (n.*2251A>C)
c.2499A>C (p.Arg833Ser)
10g.74107291A>GCA470164114VCLc.2496A>G (p.Arg832=)
c.1512A>G (p.Arg504=)
n.488A>G
n.5299A>G
c.*2251A>G (n.*2251A>G)
c.2499A>G (p.Arg833=)
gnomAD v4
10g.74107291A>TCA377263682VCLc.2496A>T (p.Arg832Ser)
c.1512A>T (p.Arg504Ser)
n.488A>T
n.5299A>T
c.*2251A>T (n.*2251A>T)
c.2499A>T (p.Arg833Ser)
10g.74107292G>ACA377263684VCLc.2497G>A (p.Glu833Lys)
c.1513G>A (p.Glu505Lys)
n.489G>A
n.5300G>A
c.*2252G>A (n.*2252G>A)
c.2500G>A (p.Glu834Lys)
10g.74107292G>CCA377263685VCLc.2497G>C (p.Glu833Gln)
c.1513G>C (p.Glu505Gln)
n.489G>C
n.5300G>C
c.*2252G>C (n.*2252G>C)
c.2500G>C (p.Glu834Gln)
dbSNP
10g.74107292G=CA1919898960VCLc.2497G= (p.Glu833=)
c.1513G= (p.Glu505=)
n.489G=
n.5300G=
c.*2252G= (n.*2252G=)
c.2500G= (p.Glu834=)
10g.74107292G>TCA377263686VCLc.2497G>T (p.Glu833Ter)
c.1513G>T (p.Glu505Ter)
n.489G>T
n.5300G>T
c.*2252G>T (n.*2252G>T)
c.2500G>T (p.Glu834Ter)
10g.74107293A>CCA377263688VCLc.2498A>C (p.Glu833Ala)
c.1514A>C (p.Glu505Ala)
n.490A>C
n.5301A>C
c.*2253A>C (n.*2253A>C)
c.2501A>C (p.Glu834Ala)
10g.74107293A>GCA377263689VCLc.2498A>G (p.Glu833Gly)
c.1514A>G (p.Glu505Gly)
n.490A>G
n.5301A>G
c.*2253A>G (n.*2253A>G)
c.2501A>G (p.Glu834Gly)
10g.74107293A>TCA377263690VCLc.2498A>T (p.Glu833Val)
c.1514A>T (p.Glu505Val)
n.490A>T
n.5301A>T
c.*2253A>T (n.*2253A>T)
c.2501A>T (p.Glu834Val)
10g.74107294A>CCA377263692VCLc.2499A>C (p.Glu833Asp)
c.1515A>C (p.Glu505Asp)
n.491A>C
n.5302A>C
c.*2254A>C (n.*2254A>C)
c.2502A>C (p.Glu834Asp)
10g.74107294A>GCA470164117VCLc.2499A>G (p.Glu833=)
c.1515A>G (p.Glu505=)
n.491A>G
n.5302A>G
c.*2254A>G (n.*2254A>G)
c.2502A>G (p.Glu834=)
gnomAD v4
10g.74107294A>TCA377263693VCLc.2499A>T (p.Glu833Asp)
c.1515A>T (p.Glu505Asp)
n.491A>T
n.5302A>T
c.*2254A>T (n.*2254A>T)
c.2502A>T (p.Glu834Asp)
10g.74107295G>ACA377263694VCLc.2500G>A (p.Ala834Thr)
c.1516G>A (p.Ala506Thr)
n.492G>A
n.5303G>A
c.*2255G>A (n.*2255G>A)
c.2503G>A (p.Ala835Thr)
10g.74107295G>CCA377263696VCLc.2500G>C (p.Ala834Pro)
c.1516G>C (p.Ala506Pro)
n.492G>C
n.5303G>C
c.*2255G>C (n.*2255G>C)
c.2503G>C (p.Ala835Pro)
ClinVar gnomAD v4
10g.74107295G>TCA377263697VCLc.2500G>T (p.Ala834Ser)
c.1516G>T (p.Ala506Ser)
n.492G>T
n.5303G>T
c.*2255G>T (n.*2255G>T)
c.2503G>T (p.Ala835Ser)
10g.74107296C>ACA377263701VCLc.2501C>A (p.Ala834Asp)
c.1517C>A (p.Ala506Asp)
n.493C>A
n.5304C>A
c.*2256C>A (n.*2256C>A)
c.2504C>A (p.Ala835Asp)
10g.74107296C=CA1919898963VCLc.2501C= (p.Ala834=)
c.1517C= (p.Ala506=)
n.493C=
n.5304C=
c.*2256C= (n.*2256C=)
c.2504C= (p.Ala835=)
10g.74107296C>GCA5563235VCLc.2501C>G (p.Ala834Gly)
c.1517C>G (p.Ala506Gly)
n.493C>G
n.5304C>G
c.*2256C>G (n.*2256C>G)
c.2504C>G (p.Ala835Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.74107296C>TCA377263699VCLc.2501C>T (p.Ala834Val)
c.1517C>T (p.Ala506Val)
n.493C>T
n.5304C>T
c.*2256C>T (n.*2256C>T)
c.2504C>T (p.Ala835Val)
10g.74107297C>ACA470164119VCLc.2502C>A (p.Ala834=)
c.1518C>A (p.Ala506=)
n.494C>A
n.5305C>A
c.*2257C>A (n.*2257C>A)
c.2505C>A (p.Ala835=)
10g.74107297C>GCA470164120VCLc.2502C>G (p.Ala834=)
c.1518C>G (p.Ala506=)
n.494C>G
n.5305C>G
c.*2257C>G (n.*2257C>G)
c.2505C>G (p.Ala835=)
10g.74107297C>TCA470164123VCLc.2502C>T (p.Ala834=)
c.1518C>T (p.Ala506=)
n.494C>T
n.5305C>T
c.*2257C>T (n.*2257C>T)
c.2505C>T (p.Ala835=)
10g.74107298T>ACA377263703VCLc.2503T>A (p.Phe835Ile)
c.1519T>A (p.Phe507Ile)
n.495T>A
n.5306T>A
c.*2258T>A (n.*2258T>A)
c.2506T>A (p.Phe836Ile)
10g.74107298T>CCA377263705VCLc.2503T>C (p.Phe835Leu)
c.1519T>C (p.Phe507Leu)
n.495T>C
n.5306T>C
c.*2258T>C (n.*2258T>C)
c.2506T>C (p.Phe836Leu)
10g.74107298T>GCA377263706VCLc.2503T>G (p.Phe835Val)
c.1519T>G (p.Phe507Val)
n.495T>G
n.5306T>G
c.*2258T>G (n.*2258T>G)
c.2506T>G (p.Phe836Val)
dbSNP gnomAD v2 gnomAD v4
10g.74107298T=CA1919898966VCLc.2503T= (p.Phe835=)
c.1519T= (p.Phe507=)
n.495T=
n.5306T=
c.*2258T= (n.*2258T=)
c.2506T= (p.Phe836=)
10g.74107299T>ACA377263707VCLc.2504T>A (p.Phe835Tyr)
c.1520T>A (p.Phe507Tyr)
n.496T>A
n.5307T>A
c.*2259T>A (n.*2259T>A)
c.2507T>A (p.Phe836Tyr)
10g.74107299T>CCA377263709VCLc.2504T>C (p.Phe835Ser)
c.1520T>C (p.Phe507Ser)
n.496T>C
n.5307T>C
c.*2259T>C (n.*2259T>C)
c.2507T>C (p.Phe836Ser)
10g.74107299T>GCA377263710VCLc.2504T>G (p.Phe835Cys)
c.1520T>G (p.Phe507Cys)
n.496T>G
n.5307T>G
c.*2259T>G (n.*2259T>G)
c.2507T>G (p.Phe836Cys)
10g.74107300C>ACA377263712VCLc.2505C>A (p.Phe835Leu)
c.1521C>A (p.Phe507Leu)
n.497C>A
n.5308C>A
c.*2260C>A (n.*2260C>A)
c.2508C>A (p.Phe836Leu)
10g.74107300C=CA1919898969VCLc.2505C= (p.Phe835=)
c.1521C= (p.Phe507=)
n.497C=
n.5308C=
c.*2260C= (n.*2260C=)
c.2508C= (p.Phe836=)
10g.74107300C>GCA377263714VCLc.2505C>G (p.Phe835Leu)
c.1521C>G (p.Phe507Leu)
n.497C>G
n.5308C>G
c.*2260C>G (n.*2260C>G)
c.2508C>G (p.Phe836Leu)
10g.74107300C>TCA470164128VCLc.2505C>T (p.Phe835=)
c.1521C>T (p.Phe507=)
n.497C>T
n.5308C>T
c.*2260C>T (n.*2260C>T)
c.2508C>T (p.Phe836=)
dbSNP
10g.74107301C>ACA377263715VCLc.2506C>A (p.Gln836Lys)
c.1522C>A (p.Gln508Lys)
n.498C>A
n.5309C>A
c.*2261C>A (n.*2261C>A)
c.2509C>A (p.Gln837Lys)
10g.74107301C>GCA377263716VCLc.2506C>G (p.Gln836Glu)
c.1522C>G (p.Gln508Glu)
n.498C>G
n.5309C>G
c.*2261C>G (n.*2261C>G)
c.2509C>G (p.Gln837Glu)
10g.74107301C>TCA377263718VCLc.2506C>T (p.Gln836Ter)
c.1522C>T (p.Gln508Ter)
n.498C>T
n.5309C>T
c.*2261C>T (n.*2261C>T)
c.2509C>T (p.Gln837Ter)
10g.74107302A>CCA377263720VCLc.2507A>C (p.Gln836Pro)
c.1523A>C (p.Gln508Pro)
n.499A>C
n.5310A>C
c.*2262A>C (n.*2262A>C)
c.2510A>C (p.Gln837Pro)
10g.74107302A>GCA377263722VCLc.2507A>G (p.Gln836Arg)
c.1523A>G (p.Gln508Arg)
n.499A>G
n.5310A>G
c.*2262A>G (n.*2262A>G)
c.2510A>G (p.Gln837Arg)
gnomAD v4
10g.74107302A>TCA377263723VCLc.2507A>T (p.Gln836Leu)
c.1523A>T (p.Gln508Leu)
n.499A>T
n.5310A>T
c.*2262A>T (n.*2262A>T)
c.2510A>T (p.Gln837Leu)
10g.74107303A>CCA377263725VCLc.2508A>C (p.Gln836His)
c.1524A>C (p.Gln508His)
n.500A>C
n.5311A>C
c.*2263A>C (n.*2263A>C)
c.2511A>C (p.Gln837His)
10g.74107303A>GCA470164130VCLc.2508A>G (p.Gln836=)
c.1524A>G (p.Gln508=)
n.500A>G
n.5311A>G
c.*2263A>G (n.*2263A>G)
c.2511A>G (p.Gln837=)
10g.74107303A>TCA377263724VCLc.2508A>T (p.Gln836His)
c.1524A>T (p.Gln508His)
n.500A>T
n.5311A>T
c.*2263A>T (n.*2263A>T)
c.2511A>T (p.Gln837His)
10g.74107304C>ACA377263726VCLc.2509C>A (p.Pro837Thr)
c.1525C>A (p.Pro509Thr)
n.501C>A
n.5312C>A
c.*2264C>A (n.*2264C>A)
c.2512C>A (p.Pro838Thr)
gnomAD v4
10g.74107304C=CA1919898972VCLc.2509C= (p.Pro837=)
c.1525C= (p.Pro509=)
n.501C=
n.5312C=
c.*2264C= (n.*2264C=)
c.2512C= (p.Pro838=)
10g.74107304C>GCA377263728VCLc.2509C>G (p.Pro837Ala)
c.1525C>G (p.Pro509Ala)
n.501C>G
n.5312C>G
c.*2264C>G (n.*2264C>G)
c.2512C>G (p.Pro838Ala)
10g.74107304C>TCA377263729VCLc.2509C>T (p.Pro837Ser)
c.1525C>T (p.Pro509Ser)
n.501C>T
n.5312C>T
c.*2264C>T (n.*2264C>T)
c.2512C>T (p.Pro838Ser)
ClinVar dbSNP gnomAD v4
10g.74107305C>ACA377263731VCLc.2510C>A (p.Pro837His)
c.1526C>A (p.Pro509His)
n.502C>A
n.5313C>A
c.*2265C>A (n.*2265C>A)
c.2513C>A (p.Pro838His)
10g.74107305C>GCA377263732VCLc.2510C>G (p.Pro837Arg)
c.1526C>G (p.Pro509Arg)
n.502C>G
n.5313C>G
c.*2265C>G (n.*2265C>G)
c.2513C>G (p.Pro838Arg)
10g.74107305C>TCA377263733VCLc.2510C>T (p.Pro837Leu)
c.1526C>T (p.Pro509Leu)
n.502C>T
n.5313C>T
c.*2265C>T (n.*2265C>T)
c.2513C>T (p.Pro838Leu)
10g.74107306T>ACA470164131VCLc.2511T>A (p.Pro837=)
c.1527T>A (p.Pro509=)
n.503T>A
n.5314T>A
c.*2266T>A (n.*2266T>A)
c.2514T>A (p.Pro838=)
10g.74107306T>CCA470164132VCLc.2511T>C (p.Pro837=)
c.1527T>C (p.Pro509=)
n.503T>C
n.5314T>C
c.*2266T>C (n.*2266T>C)
c.2514T>C (p.Pro838=)
dbSNP gnomAD v3 gnomAD v4
10g.74107306T>GCA470164133VCLc.2511T>G (p.Pro837=)
c.1527T>G (p.Pro509=)
n.503T>G
n.5314T>G
c.*2266T>G (n.*2266T>G)
c.2514T>G (p.Pro838=)
10g.74107306T=CA1919898975VCLc.2511T= (p.Pro837=)
c.1527T= (p.Pro509=)
n.503T=
n.5314T=
c.*2266T= (n.*2266T=)
c.2514T= (p.Pro838=)
10g.74107307C>ACA377263739VCLc.2512C>A (p.Gln838Lys)
c.1528C>A (p.Gln510Lys)
n.504C>A
n.5315C>A
c.*2267C>A (n.*2267C>A)
c.2515C>A (p.Gln839Lys)
10g.74107307C>GCA377263736VCLc.2512C>G (p.Gln838Glu)
c.1528C>G (p.Gln510Glu)
n.504C>G
n.5315C>G
c.*2267C>G (n.*2267C>G)
c.2515C>G (p.Gln839Glu)
10g.74107307C>TCA377263738VCLc.2512C>T (p.Gln838Ter)
c.1528C>T (p.Gln510Ter)
n.504C>T
n.5315C>T
c.*2267C>T (n.*2267C>T)
c.2515C>T (p.Gln839Ter)
10g.74107308A>CCA377263741VCLc.2513A>C (p.Gln838Pro)
c.1529A>C (p.Gln510Pro)
n.505A>C
n.5316A>C
c.*2268A>C (n.*2268A>C)
c.2516A>C (p.Gln839Pro)
10g.74107308A>GCA377263742VCLc.2513A>G (p.Gln838Arg)
c.1529A>G (p.Gln510Arg)
n.505A>G
n.5316A>G
c.*2268A>G (n.*2268A>G)
c.2516A>G (p.Gln839Arg)
10g.74107308A>TCA377263743VCLc.2513A>T (p.Gln838Leu)
c.1529A>T (p.Gln510Leu)
n.505A>T
n.5316A>T
c.*2268A>T (n.*2268A>T)
c.2516A>T (p.Gln839Leu)
10g.74107309G>ACA470164135VCLc.2514G>A (p.Gln838=)
c.1530G>A (p.Gln510=)
n.506G>A
n.5317G>A
c.*2269G>A (n.*2269G>A)
c.2517G>A (p.Gln839=)
10g.74107309G>CCA377263745VCLc.2514G>C (p.Gln838His)
c.1530G>C (p.Gln510His)
n.506G>C
n.5317G>C
c.*2269G>C (n.*2269G>C)
c.2517G>C (p.Gln839His)
10g.74107309G>TCA377263747VCLc.2514G>T (p.Gln838His)
c.1530G>T (p.Gln510His)
n.506G>T
n.5317G>T
c.*2269G>T (n.*2269G>T)
c.2517G>T (p.Gln839His)
10g.74107310delCA2609729663VCLc.2515del (p.Glu839SerfsTer16)
c.1531del (p.Glu511SerfsTer16)
n.507del
n.5318del
c.*2270del (n.*2270del)
c.2518del (p.Glu840SerfsTer16)
gnomAD v4
10g.74107310G>ACA5563236VCLc.2515G>A (p.Glu839Lys)
c.1531G>A (p.Glu511Lys)
n.507G>A
n.5318G>A
c.*2270G>A (n.*2270G>A)
c.2518G>A (p.Glu840Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.74107310G>CCA209695452VCLc.2515G>C (p.Glu839Gln)
c.1531G>C (p.Glu511Gln)
n.507G>C
n.5318G>C
c.*2270G>C (n.*2270G>C)
c.2518G>C (p.Glu840Gln)
ClinVar dbSNP
10g.74107310G=CA1919898978VCLc.2515G= (p.Glu839=)
c.1531G= (p.Glu511=)
n.507G=
n.5318G=
c.*2270G= (n.*2270G=)
c.2518G= (p.Glu840=)
10g.74107310G>TCA377263749VCLc.2515G>T (p.Glu839Ter)
c.1531G>T (p.Glu511Ter)
n.507G>T
n.5318G>T
c.*2270G>T (n.*2270G>T)
c.2518G>T (p.Glu840Ter)
10g.74107311A=CA1919898981VCLc.2516A= (p.Glu839=)
c.1532A= (p.Glu511=)
n.508A=
n.5319A=
c.*2271A= (n.*2271A=)
c.2519A= (p.Glu840=)
10g.74107311A>CCA377263751VCLc.2516A>C (p.Glu839Ala)
c.1532A>C (p.Glu511Ala)
n.508A>C
n.5319A>C
c.*2271A>C (n.*2271A>C)
c.2519A>C (p.Glu840Ala)
10g.74107311A>GCA377263753VCLc.2516A>G (p.Glu839Gly)
c.1532A>G (p.Glu511Gly)
n.508A>G
n.5319A>G
c.*2271A>G (n.*2271A>G)
c.2519A>G (p.Glu840Gly)
10g.74107311A>TCA377263755VCLc.2516A>T (p.Glu839Val)
c.1532A>T (p.Glu511Val)
n.508A>T
n.5319A>T
c.*2271A>T (n.*2271A>T)
c.2519A>T (p.Glu840Val)
dbSNP gnomAD v2 gnomAD v4
10g.74107312G>ACA5563237VCLc.2517G>A (p.Glu839=)
c.1533G>A (p.Glu511=)
n.509G>A
n.5320G>A
c.*2272G>A (n.*2272G>A)
c.2520G>A (p.Glu840=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.74107312G>CCA377263757VCLc.2517G>C (p.Glu839Asp)
c.1533G>C (p.Glu511Asp)
n.509G>C
n.5320G>C
c.*2272G>C (n.*2272G>C)
c.2520G>C (p.Glu840Asp)
gnomAD v4
10g.74107312G=CA1919898988VCLc.2517G= (p.Glu839=)
c.1533G= (p.Glu511=)
n.509G=
n.5320G=
c.*2272G= (n.*2272G=)
c.2520G= (p.Glu840=)
10g.74107312G>TCA377263759VCLc.2517G>T (p.Glu839Asp)
c.1533G>T (p.Glu511Asp)
n.509G>T
n.5320G>T
c.*2272G>T (n.*2272G>T)
c.2520G>T (p.Glu840Asp)
10g.74107313C>ACA377263761VCLc.2518C>A (p.Pro840Thr)
c.1534C>A (p.Pro512Thr)
n.510C>A
n.5321C>A
c.*2273C>A (n.*2273C>A)
c.2521C>A (p.Pro841Thr)
10g.74107313C>GCA377263763VCLc.2518C>G (p.Pro840Ala)
c.1534C>G (p.Pro512Ala)
n.510C>G
n.5321C>G
c.*2273C>G (n.*2273C>G)
c.2521C>G (p.Pro841Ala)
ClinVar
10g.74107313C>TCA377263764VCLc.2518C>T (p.Pro840Ser)
c.1534C>T (p.Pro512Ser)
n.510C>T
n.5321C>T
c.*2273C>T (n.*2273C>T)
c.2521C>T (p.Pro841Ser)
10g.74107314C>ACA377263766VCLc.2519C>A (p.Pro840His)
c.1535C>A (p.Pro512His)
n.511C>A
n.5322C>A
c.*2274C>A (n.*2274C>A)
c.2522C>A (p.Pro841His)
10g.74107314C>GCA377263768VCLc.2519C>G (p.Pro840Arg)
c.1535C>G (p.Pro512Arg)
n.511C>G
n.5322C>G
c.*2274C>G (n.*2274C>G)
c.2522C>G (p.Pro841Arg)
10g.74107314C>TCA377263769VCLc.2519C>T (p.Pro840Leu)
c.1535C>T (p.Pro512Leu)
n.511C>T
n.5322C>T
c.*2274C>T (n.*2274C>T)
c.2522C>T (p.Pro841Leu)
10g.74107315T>ACA470164142VCLc.2520T>A (p.Pro840=)
c.1536T>A (p.Pro512=)
n.512T>A
n.5323T>A
c.*2275T>A (n.*2275T>A)
c.2523T>A (p.Pro841=)
10g.74107315T>CCA470164143VCLc.2520T>C (p.Pro840=)
c.1536T>C (p.Pro512=)
n.512T>C
n.5323T>C
c.*2275T>C (n.*2275T>C)
c.2523T>C (p.Pro841=)
gnomAD v4 COSMIC
10g.74107315T>GCA5563238VCLc.2520T>G (p.Pro840=)
c.1536T>G (p.Pro512=)
n.512T>G
n.5323T>G
c.*2275T>G (n.*2275T>G)
c.2523T>G (p.Pro841=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.74107315T=CA1919898993VCLc.2520T= (p.Pro840=)
c.1536T= (p.Pro512=)
n.512T=
n.5323T=
c.*2275T= (n.*2275T=)
c.2523T= (p.Pro841=)
10g.74107316G>ACA377263771VCLc.2521G>A (p.Asp841Asn)
c.1537G>A (p.Asp513Asn)
n.513G>A
n.5324G>A
c.*2276G>A (n.*2276G>A)
c.2524G>A (p.Asp842Asn)
ClinVar gnomAD v4
10g.74107316G>CCA238367VCLc.2521G>C (p.Asp841His)
c.1537G>C (p.Asp513His)
n.513G>C
n.5324G>C
c.*2276G>C (n.*2276G>C)
c.2524G>C (p.Asp842His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107316G=CA1919898999VCLc.2521G= (p.Asp841=)
c.1537G= (p.Asp513=)
n.513G=
n.5324G=
c.*2276G= (n.*2276G=)
c.2524G= (p.Asp842=)
10g.74107316G>TCA377263773VCLc.2521G>T (p.Asp841Tyr)
c.1537G>T (p.Asp513Tyr)
n.513G>T
n.5324G>T
c.*2276G>T (n.*2276G>T)
c.2524G>T (p.Asp842Tyr)
10g.74107317A=CA1919899001VCLc.2522A= (p.Asp841=)
c.1538A= (p.Asp513=)
n.514A=
n.5325A=
c.*2277A= (n.*2277A=)
c.2525A= (p.Asp842=)
10g.74107317A>CCA377263776VCLc.2522A>C (p.Asp841Ala)
c.1538A>C (p.Asp513Ala)
n.514A>C
n.5325A>C
c.*2277A>C (n.*2277A>C)
c.2525A>C (p.Asp842Ala)
10g.74107317A>GCA377263777VCLc.2522A>G (p.Asp841Gly)
c.1538A>G (p.Asp513Gly)
n.514A>G
n.5325A>G
c.*2277A>G (n.*2277A>G)
c.2525A>G (p.Asp842Gly)
10g.74107317A>TCA377263779VCLc.2522A>T (p.Asp841Val)
c.1538A>T (p.Asp513Val)
n.514A>T
n.5325A>T
c.*2277A>T (n.*2277A>T)
c.2525A>T (p.Asp842Val)
dbSNP
10g.74107318C>ACA377263781VCLc.2523C>A (p.Asp841Glu)
c.1539C>A (p.Asp513Glu)
n.515C>A
n.5326C>A
c.*2278C>A (n.*2278C>A)
c.2526C>A (p.Asp842Glu)
10g.74107318C>GCA377263782VCLc.2523C>G (p.Asp841Glu)
c.1539C>G (p.Asp513Glu)
n.515C>G
n.5326C>G
c.*2278C>G (n.*2278C>G)
c.2526C>G (p.Asp842Glu)
10g.74107318C>TCA470164148VCLc.2523C>T (p.Asp841=)
c.1539C>T (p.Asp513=)
n.515C>T
n.5326C>T
c.*2278C>T (n.*2278C>T)
c.2526C>T (p.Asp842=)
10g.74107319T>ACA377263784VCLc.2524T>A (p.Phe842Ile)
c.1540T>A (p.Phe514Ile)
n.516T>A
n.5327T>A
c.*2279T>A (n.*2279T>A)
c.2527T>A (p.Phe843Ile)
10g.74107319T>CCA377263786VCLc.2524T>C (p.Phe842Leu)
c.1540T>C (p.Phe514Leu)
n.516T>C
n.5327T>C
c.*2279T>C (n.*2279T>C)
c.2527T>C (p.Phe843Leu)
10g.74107319T>GCA377263787VCLc.2524T>G (p.Phe842Val)
c.1540T>G (p.Phe514Val)
n.516T>G
n.5327T>G
c.*2279T>G (n.*2279T>G)
c.2527T>G (p.Phe843Val)
10g.74107320T>ACA377263789VCLc.2525T>A (p.Phe842Tyr)
c.1541T>A (p.Phe514Tyr)
n.517T>A
n.5328T>A
c.*2280T>A (n.*2280T>A)
c.2528T>A (p.Phe843Tyr)
10g.74107320T>CCA377263790VCLc.2525T>C (p.Phe842Ser)
c.1541T>C (p.Phe514Ser)
n.517T>C
n.5328T>C
c.*2280T>C (n.*2280T>C)
c.2528T>C (p.Phe843Ser)
10g.74107320T>GCA377263792VCLc.2525T>G (p.Phe842Cys)
c.1541T>G (p.Phe514Cys)
n.517T>G
n.5328T>G
c.*2280T>G (n.*2280T>G)
c.2528T>G (p.Phe843Cys)
10g.74107321C>ACA377263796VCLc.2526C>A (p.Phe842Leu)
c.1542C>A (p.Phe514Leu)
n.518C>A
n.5329C>A
c.*2281C>A (n.*2281C>A)
c.2529C>A (p.Phe843Leu)
10g.74107321C>GCA377263794VCLc.2526C>G (p.Phe842Leu)
c.1542C>G (p.Phe514Leu)
n.518C>G
n.5329C>G
c.*2281C>G (n.*2281C>G)
c.2529C>G (p.Phe843Leu)
10g.74107321C>TCA470164149VCLc.2526C>T (p.Phe842=)
c.1542C>T (p.Phe514=)
n.518C>T
n.5329C>T
c.*2281C>T (n.*2281C>T)
c.2529C>T (p.Phe843=)
10g.74107322C>ACA377263798VCLc.2527C>A (p.Pro843Thr)
c.1543C>A (p.Pro515Thr)
n.519C>A
n.5330C>A
c.*2282C>A (n.*2282C>A)
c.2530C>A (p.Pro844Thr)
10g.74107322C>GCA377263801VCLc.2527C>G (p.Pro843Ala)
c.1543C>G (p.Pro515Ala)
n.519C>G
n.5330C>G
c.*2282C>G (n.*2282C>G)
c.2530C>G (p.Pro844Ala)
10g.74107322C>TCA377263800VCLc.2527C>T (p.Pro843Ser)
c.1543C>T (p.Pro515Ser)
n.519C>T
n.5330C>T
c.*2282C>T (n.*2282C>T)
c.2530C>T (p.Pro844Ser)
10g.74107323C>ACA377263803VCLc.2528C>A (p.Pro843Gln)
c.1544C>A (p.Pro515Gln)
n.520C>A
n.5331C>A
c.*2283C>A (n.*2283C>A)
c.2531C>A (p.Pro844Gln)
10g.74107323C=CA1919899006VCLc.2528C= (p.Pro843=)
c.1544C= (p.Pro515=)
n.520C=
n.5331C=
c.*2283C= (n.*2283C=)
c.2531C= (p.Pro844=)
10g.74107323C>GCA377263804VCLc.2528C>G (p.Pro843Arg)
c.1544C>G (p.Pro515Arg)
n.520C>G
n.5331C>G
c.*2283C>G (n.*2283C>G)
c.2531C>G (p.Pro844Arg)
ClinVar dbSNP
10g.74107323C>TCA5563239VCLc.2528C>T (p.Pro843Leu)
c.1544C>T (p.Pro515Leu)
n.520C>T
n.5331C>T
c.*2283C>T (n.*2283C>T)
c.2531C>T (p.Pro844Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107324G>ACA470164154VCLc.2529G>A (p.Pro843=)
c.1545G>A (p.Pro515=)
n.521G>A
n.5332G>A
c.*2284G>A (n.*2284G>A)
c.2532G>A (p.Pro844=)
ClinVar dbSNP gnomAD v4
10g.74107324G>CCA470164156VCLc.2529G>C (p.Pro843=)
c.1545G>C (p.Pro515=)
n.521G>C
n.5332G>C
c.*2284G>C (n.*2284G>C)
c.2532G>C (p.Pro844=)
10g.74107324G=CA1919899009VCLc.2529G= (p.Pro843=)
c.1545G= (p.Pro515=)
n.521G=
n.5332G=
c.*2284G= (n.*2284G=)
c.2532G= (p.Pro844=)
10g.74107324G>TCA470164155VCLc.2529G>T (p.Pro843=)
c.1545G>T (p.Pro515=)
n.521G>T
n.5332G>T
c.*2284G>T (n.*2284G>T)
c.2532G>T (p.Pro844=)
10g.74107325C>ACA377263807VCLc.2530C>A (p.Pro844Thr)
c.1546C>A (p.Pro516Thr)
n.522C>A
n.5333C>A
c.*2285C>A (n.*2285C>A)
c.2533C>A (p.Pro845Thr)
10g.74107325C>GCA377263809VCLc.2530C>G (p.Pro844Ala)
c.1546C>G (p.Pro516Ala)
n.522C>G
n.5333C>G
c.*2285C>G (n.*2285C>G)
c.2533C>G (p.Pro845Ala)
10g.74107325C>TCA377263811VCLc.2530C>T (p.Pro844Ser)
c.1546C>T (p.Pro516Ser)
n.522C>T
n.5333C>T
c.*2285C>T (n.*2285C>T)
c.2533C>T (p.Pro845Ser)
10g.74107326C>ACA377263813VCLc.2531C>A (p.Pro844Gln)
c.1547C>A (p.Pro516Gln)
n.523C>A
n.5334C>A
c.*2286C>A (n.*2286C>A)
c.2534C>A (p.Pro845Gln)
10g.74107326C=CA1919899014VCLc.2531C= (p.Pro844=)
c.1547C= (p.Pro516=)
n.523C=
n.5334C=
c.*2286C= (n.*2286C=)
c.2534C= (p.Pro845=)
10g.74107326C>GCA377263815VCLc.2531C>G (p.Pro844Arg)
c.1547C>G (p.Pro516Arg)
n.523C>G
n.5334C>G
c.*2286C>G (n.*2286C>G)
c.2534C>G (p.Pro845Arg)
10g.74107326C>TCA5563240VCLc.2531C>T (p.Pro844Leu)
c.1547C>T (p.Pro516Leu)
n.523C>T
n.5334C>T
c.*2286C>T (n.*2286C>T)
c.2534C>T (p.Pro845Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107327G>ACA470164162VCLc.2532G>A (p.Pro844=)
c.1548G>A (p.Pro516=)
n.524G>A
n.5335G>A
c.*2287G>A (n.*2287G>A)
c.2535G>A (p.Pro845=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.74107327G>CCA470164163VCLc.2532G>C (p.Pro844=)
c.1548G>C (p.Pro516=)
n.524G>C
n.5335G>C
c.*2287G>C (n.*2287G>C)
c.2535G>C (p.Pro845=)
10g.74107327G=CA1919899022VCLc.2532G= (p.Pro844=)
c.1548G= (p.Pro516=)
n.524G=
n.5335G=
c.*2287G= (n.*2287G=)
c.2535G= (p.Pro845=)
10g.74107327G>TCA470164164VCLc.2532G>T (p.Pro844=)
c.1548G>T (p.Pro516=)
n.524G>T
n.5335G>T
c.*2287G>T (n.*2287G>T)
c.2535G>T (p.Pro845=)
10g.74107328C>ACA377263817VCLc.2533C>A (p.Pro845Thr)
c.1549C>A (p.Pro517Thr)
n.525C>A
n.5336C>A
c.*2288C>A (n.*2288C>A)
c.2536C>A (p.Pro846Thr)
10g.74107328C>GCA377263818VCLc.2533C>G (p.Pro845Ala)
c.1549C>G (p.Pro517Ala)
n.525C>G
n.5336C>G
c.*2288C>G (n.*2288C>G)
c.2536C>G (p.Pro846Ala)
10g.74107328C>TCA377263820VCLc.2533C>T (p.Pro845Ser)
c.1549C>T (p.Pro517Ser)
n.525C>T
n.5336C>T
c.*2288C>T (n.*2288C>T)
c.2536C>T (p.Pro846Ser)
10g.74107329C>ACA377263824VCLc.2534C>A (p.Pro845His)
c.1550C>A (p.Pro517His)
n.526C>A
n.5337C>A
c.*2289C>A (n.*2289C>A)
c.2537C>A (p.Pro846His)
10g.74107329C>GCA377263821VCLc.2534C>G (p.Pro845Arg)
c.1550C>G (p.Pro517Arg)
n.526C>G
n.5337C>G
c.*2289C>G (n.*2289C>G)
c.2537C>G (p.Pro846Arg)
10g.74107329C>TCA377263822VCLc.2534C>T (p.Pro845Leu)
c.1550C>T (p.Pro517Leu)
n.526C>T
n.5337C>T
c.*2289C>T (n.*2289C>T)
c.2537C>T (p.Pro846Leu)
10g.74107330T>ACA470164169VCLc.2535T>A (p.Pro845=)
c.1551T>A (p.Pro517=)
n.527T>A
n.5338T>A
c.*2290T>A (n.*2290T>A)
c.2538T>A (p.Pro846=)
10g.74107330T>CCA470164171VCLc.2535T>C (p.Pro845=)
c.1551T>C (p.Pro517=)
n.527T>C
n.5338T>C
c.*2290T>C (n.*2290T>C)
c.2538T>C (p.Pro846=)
10g.74107330T>GCA470164173VCLc.2535T>G (p.Pro845=)
c.1551T>G (p.Pro517=)
n.527T>G
n.5338T>G
c.*2290T>G (n.*2290T>G)
c.2538T>G (p.Pro846=)
dbSNP
10g.74107330T=CA1919899026VCLc.2535T= (p.Pro845=)
c.1551T= (p.Pro517=)
n.527T=
n.5338T=
c.*2290T= (n.*2290T=)
c.2538T= (p.Pro846=)
10g.74107331C>ACA377263826VCLc.2536C>A (p.Pro846Thr)
c.1552C>A (p.Pro518Thr)
n.528C>A
n.5339C>A
c.*2291C>A (n.*2291C>A)
c.2539C>A (p.Pro847Thr)
10g.74107331C>GCA377263828VCLc.2536C>G (p.Pro846Ala)
c.1552C>G (p.Pro518Ala)
n.528C>G
n.5339C>G
c.*2291C>G (n.*2291C>G)
c.2539C>G (p.Pro847Ala)
10g.74107331C>TCA377263829VCLc.2536C>T (p.Pro846Ser)
c.1552C>T (p.Pro518Ser)
n.528C>T
n.5339C>T
c.*2291C>T (n.*2291C>T)
c.2539C>T (p.Pro847Ser)
gnomAD v4
10g.74107332C>ACA377263830VCLc.2537C>A (p.Pro846Gln)
c.1553C>A (p.Pro518Gln)
n.529C>A
n.5340C>A
c.*2292C>A (n.*2292C>A)
c.2540C>A (p.Pro847Gln)
10g.74107332C>GCA377263832VCLc.2537C>G (p.Pro846Arg)
c.1553C>G (p.Pro518Arg)
n.529C>G
n.5340C>G
c.*2292C>G (n.*2292C>G)
c.2540C>G (p.Pro847Arg)
10g.74107332C>TCA377263833VCLc.2537C>T (p.Pro846Leu)
c.1553C>T (p.Pro518Leu)
n.529C>T
n.5340C>T
c.*2292C>T (n.*2292C>T)
c.2540C>T (p.Pro847Leu)
10g.74107333A=CA1919899030VCLc.2538A= (p.Pro846=)
c.1554A= (p.Pro518=)
n.530A=
n.5341A=
c.*2293A= (n.*2293A=)
c.2541A= (p.Pro847=)
10g.74107333A>CCA470164180VCLc.2538A>C (p.Pro846=)
c.1554A>C (p.Pro518=)
n.530A>C
n.5341A>C
c.*2293A>C (n.*2293A>C)
c.2541A>C (p.Pro847=)
10g.74107333A>GCA470164177VCLc.2538A>G (p.Pro846=)
c.1554A>G (p.Pro518=)
n.530A>G
n.5341A>G
c.*2293A>G (n.*2293A>G)
c.2541A>G (p.Pro847=)
ClinVar dbSNP
10g.74107333A>TCA470164178VCLc.2538A>T (p.Pro846=)
c.1554A>T (p.Pro518=)
n.530A>T
n.5341A>T
c.*2293A>T (n.*2293A>T)
c.2541A>T (p.Pro847=)
10g.74107334C>ACA377263835VCLc.2539C>A (p.Pro847Thr)
c.1555C>A (p.Pro519Thr)
n.531C>A
n.5342C>A
c.*2294C>A (n.*2294C>A)
c.2542C>A (p.Pro848Thr)
10g.74107334C=CA1919899034VCLc.2539C= (p.Pro847=)
c.1555C= (p.Pro519=)
n.531C=
n.5342C=
c.*2294C= (n.*2294C=)
c.2542C= (p.Pro848=)
10g.74107334C>GCA377263836VCLc.2539C>G (p.Pro847Ala)
c.1555C>G (p.Pro519Ala)
n.531C>G
n.5342C>G
c.*2294C>G (n.*2294C>G)
c.2542C>G (p.Pro848Ala)
ClinVar gnomAD v4
10g.74107334C>TCA5563241VCLc.2539C>T (p.Pro847Ser)
c.1555C>T (p.Pro519Ser)
n.531C>T
n.5342C>T
c.*2294C>T (n.*2294C>T)
c.2542C>T (p.Pro848Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.74107335C>ACA377263839VCLc.2540C>A (p.Pro847Gln)
c.1556C>A (p.Pro519Gln)
n.532C>A
n.5343C>A
c.*2295C>A (n.*2295C>A)
c.2543C>A (p.Pro848Gln)
10g.74107335C>GCA377263840VCLc.2540C>G (p.Pro847Arg)
c.1556C>G (p.Pro519Arg)
n.532C>G
n.5343C>G
c.*2295C>G (n.*2295C>G)
c.2543C>G (p.Pro848Arg)
gnomAD v4 COSMIC
10g.74107335C>TCA377263842VCLc.2540C>T (p.Pro847Leu)
c.1556C>T (p.Pro519Leu)
n.532C>T
n.5343C>T
c.*2295C>T (n.*2295C>T)
c.2543C>T (p.Pro848Leu)
COSMIC
10g.74107336delCA2697558486VCLc.2541del (p.Asp848ThrfsTer7)
c.1557del (p.Asp520ThrfsTer7)
n.533del
n.5344del
c.*2296del (n.*2296del)
c.2544del (p.Asp849ThrfsTer7)
ClinVar
10g.74107336A>CCA470164182VCLc.2541A>C (p.Pro847=)
c.1557A>C (p.Pro519=)
n.533A>C
n.5344A>C
c.*2296A>C (n.*2296A>C)
c.2544A>C (p.Pro848=)
10g.74107336A>GCA470164183VCLc.2541A>G (p.Pro847=)
c.1557A>G (p.Pro519=)
n.533A>G
n.5344A>G
c.*2296A>G (n.*2296A>G)
c.2544A>G (p.Pro848=)
10g.74107336A>TCA470164184VCLc.2541A>T (p.Pro847=)
c.1557A>T (p.Pro519=)
n.533A>T
n.5344A>T
c.*2296A>T (n.*2296A>T)
c.2544A>T (p.Pro848=)
10g.74107337G>ACA377263847VCLc.2542G>A (p.Asp848Asn)
c.1558G>A (p.Asp520Asn)
n.534G>A
n.5345G>A
c.*2297G>A (n.*2297G>A)
c.2545G>A (p.Asp849Asn)
10g.74107337G>CCA377263845VCLc.2542G>C (p.Asp848His)
c.1558G>C (p.Asp520His)
n.534G>C
n.5345G>C
c.*2297G>C (n.*2297G>C)
c.2545G>C (p.Asp849His)
10g.74107337G>TCA377263843VCLc.2542G>T (p.Asp848Tyr)
c.1558G>T (p.Asp520Tyr)
n.534G>T
n.5345G>T
c.*2297G>T (n.*2297G>T)
c.2545G>T (p.Asp849Tyr)
10g.74107338A=CA1919899044VCLc.2543A= (p.Asp848=)
c.1559A= (p.Asp520=)
n.535A=
n.5346A=
c.*2298A= (n.*2298A=)
c.2546A= (p.Asp849=)
10g.74107338A>CCA377263851VCLc.2543A>C (p.Asp848Ala)
c.1559A>C (p.Asp520Ala)
n.535A>C
n.5346A>C
c.*2298A>C (n.*2298A>C)
c.2546A>C (p.Asp849Ala)
COSMIC
10g.74107338A>GCA209695501VCLc.2543A>G (p.Asp848Gly)
c.1559A>G (p.Asp520Gly)
n.535A>G
n.5346A>G
c.*2298A>G (n.*2298A>G)
c.2546A>G (p.Asp849Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.74107338A>TCA377263849VCLc.2543A>T (p.Asp848Val)
c.1559A>T (p.Asp520Val)
n.535A>T
n.5346A>T
c.*2298A>T (n.*2298A>T)
c.2546A>T (p.Asp849Val)

Number of alleles fetched