Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66850206C=CA1979879199PCc.2718+14G= (n.2718+14G=)
n.290-141G=
c.*727+14G= (n.*727+14G=)
c.*1194+14G= (n.*1194+14G=)
c.78+14G= (n.78+14G=)
c.1197+14G= (n.1197+14G=)
c.1422+14G= (n.1422+14G=)
c.1353+14G= (n.1353+14G=)
11g.66850206C>GCA6131002PCc.2718+14G>C (n.2718+14G>C)
n.290-141G>C
c.*727+14G>C (n.*727+14G>C)
c.*1194+14G>C (n.*1194+14G>C)
c.78+14G>C (n.78+14G>C)
c.1197+14G>C (n.1197+14G>C)
c.1422+14G>C (n.1422+14G>C)
c.1353+14G>C (n.1353+14G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850206C>TCA6131001PCc.2718+14G>A (n.2718+14G>A)
n.290-141G>A
c.*727+14G>A (n.*727+14G>A)
c.*1194+14G>A (n.*1194+14G>A)
c.78+14G>A (n.78+14G>A)
c.1197+14G>A (n.1197+14G>A)
c.1422+14G>A (n.1422+14G>A)
c.1353+14G>A (n.1353+14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850207G>ACA6131003PCc.2718+13C>T (n.2718+13C>T)
n.290-142C>T
c.*727+13C>T (n.*727+13C>T)
c.*1194+13C>T (n.*1194+13C>T)
c.78+13C>T (n.78+13C>T)
c.1197+13C>T (n.1197+13C>T)
c.1422+13C>T (n.1422+13C>T)
c.1353+13C>T (n.1353+13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850207G>CCA600234175PCc.2718+13C>G (n.2718+13C>G)
n.290-142C>G
c.*727+13C>G (n.*727+13C>G)
c.*1194+13C>G (n.*1194+13C>G)
c.78+13C>G (n.78+13C>G)
c.1197+13C>G (n.1197+13C>G)
c.1422+13C>G (n.1422+13C>G)
c.1353+13C>G (n.1353+13C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66850207G=CA1979879204PCc.2718+13C= (n.2718+13C=)
n.290-142C=
c.*727+13C= (n.*727+13C=)
c.*1194+13C= (n.*1194+13C=)
c.78+13C= (n.78+13C=)
c.1197+13C= (n.1197+13C=)
c.1422+13C= (n.1422+13C=)
c.1353+13C= (n.1353+13C=)
11g.66850207G>TCA2574890676PCc.2718+13C>A (n.2718+13C>A)
n.290-142C>A
c.*727+13C>A (n.*727+13C>A)
c.*1194+13C>A (n.*1194+13C>A)
c.78+13C>A (n.78+13C>A)
c.1197+13C>A (n.1197+13C>A)
c.1422+13C>A (n.1422+13C>A)
c.1353+13C>A (n.1353+13C>A)
ClinVar dbSNP
11g.66850208_66850209dupCA475501294PCc.2718+12_2718+13dup (n.2718+12_2718+13dup)
n.290-143_290-142dup
c.*727+12_*727+13dup (n.*727+12_*727+13dup)
c.*1194+12_*1194+13dup (n.*1194+12_*1194+13dup)
c.78+12_78+13dup (n.78+12_78+13dup)
c.1197+12_1197+13dup (n.1197+12_1197+13dup)
c.1422+12_1422+13dup (n.1422+12_1422+13dup)
c.1353+12_1353+13dup (n.1353+12_1353+13dup)
ClinVar
11g.66850209G>ACA2614541487PCc.2718+11C>T (n.2718+11C>T)
n.290-144C>T
c.*727+11C>T (n.*727+11C>T)
c.*1194+11C>T (n.*1194+11C>T)
c.78+11C>T (n.78+11C>T)
c.1197+11C>T (n.1197+11C>T)
c.1422+11C>T (n.1422+11C>T)
c.1353+11C>T (n.1353+11C>T)
gnomAD v4
11g.66850209G>TCA654351113PCc.2718+11C>A (n.2718+11C>A)
n.290-144C>A
c.*727+11C>A (n.*727+11C>A)
c.*1194+11C>A (n.*1194+11C>A)
c.78+11C>A (n.78+11C>A)
c.1197+11C>A (n.1197+11C>A)
c.1422+11C>A (n.1422+11C>A)
c.1353+11C>A (n.1353+11C>A)
COSMIC
11g.66850210C=CA1979879207PCc.2718+10G= (n.2718+10G=)
n.290-145G=
c.*727+10G= (n.*727+10G=)
c.*1194+10G= (n.*1194+10G=)
c.78+10G= (n.78+10G=)
c.1197+10G= (n.1197+10G=)
c.1422+10G= (n.1422+10G=)
c.1353+10G= (n.1353+10G=)
11g.66850210C>GCA1979879208PCc.2718+10G>C (n.2718+10G>C)
n.290-145G>C
c.*727+10G>C (n.*727+10G>C)
c.*1194+10G>C (n.*1194+10G>C)
c.78+10G>C (n.78+10G>C)
c.1197+10G>C (n.1197+10G>C)
c.1422+10G>C (n.1422+10G>C)
c.1353+10G>C (n.1353+10G>C)
ClinVar dbSNP
11g.66850211C>ACA2614541494PCc.2718+9G>T (n.2718+9G>T)
n.290-146G>T
c.*727+9G>T (n.*727+9G>T)
c.*1194+9G>T (n.*1194+9G>T)
c.78+9G>T (n.78+9G>T)
c.1197+9G>T (n.1197+9G>T)
c.1422+9G>T (n.1422+9G>T)
c.1353+9G>T (n.1353+9G>T)
gnomAD v4
11g.66850211C=CA1979879213PCc.2718+9G= (n.2718+9G=)
n.290-146G=
c.*727+9G= (n.*727+9G=)
c.*1194+9G= (n.*1194+9G=)
c.78+9G= (n.78+9G=)
c.1197+9G= (n.1197+9G=)
c.1422+9G= (n.1422+9G=)
c.1353+9G= (n.1353+9G=)
11g.66850211C>GCA600234176PCc.2718+9G>C (n.2718+9G>C)
n.290-146G>C
c.*727+9G>C (n.*727+9G>C)
c.*1194+9G>C (n.*1194+9G>C)
c.78+9G>C (n.78+9G>C)
c.1197+9G>C (n.1197+9G>C)
c.1422+9G>C (n.1422+9G>C)
c.1353+9G>C (n.1353+9G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.66850211C>TCA6131004PCc.2718+9G>A (n.2718+9G>A)
n.290-146G>A
c.*727+9G>A (n.*727+9G>A)
c.*1194+9G>A (n.*1194+9G>A)
c.78+9G>A (n.78+9G>A)
c.1197+9G>A (n.1197+9G>A)
c.1422+9G>A (n.1422+9G>A)
c.1353+9G>A (n.1353+9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850212G>ACA6131005PCc.2718+8C>T (n.2718+8C>T)
n.290-147C>T
c.*727+8C>T (n.*727+8C>T)
c.*1194+8C>T (n.*1194+8C>T)
c.78+8C>T (n.78+8C>T)
c.1197+8C>T (n.1197+8C>T)
c.1422+8C>T (n.1422+8C>T)
c.1353+8C>T (n.1353+8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.66850212G=CA1979879220PCc.2718+8C= (n.2718+8C=)
n.290-147C=
c.*727+8C= (n.*727+8C=)
c.*1194+8C= (n.*1194+8C=)
c.78+8C= (n.78+8C=)
c.1197+8C= (n.1197+8C=)
c.1422+8C= (n.1422+8C=)
c.1353+8C= (n.1353+8C=)
11g.66850212G>TCA6131006PCc.2718+8C>A (n.2718+8C>A)
n.290-147C>A
c.*727+8C>A (n.*727+8C>A)
c.*1194+8C>A (n.*1194+8C>A)
c.78+8C>A (n.78+8C>A)
c.1197+8C>A (n.1197+8C>A)
c.1422+8C>A (n.1422+8C>A)
c.1353+8C>A (n.1353+8C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850214G>ACA6131007PCc.2718+6C>T (n.2718+6C>T)
n.290-149C>T
c.*727+6C>T (n.*727+6C>T)
c.*1194+6C>T (n.*1194+6C>T)
c.78+6C>T (n.78+6C>T)
c.1197+6C>T (n.1197+6C>T)
c.1422+6C>T (n.1422+6C>T)
c.1353+6C>T (n.1353+6C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850214G=CA1979879227PCc.2718+6C= (n.2718+6C=)
n.290-149C=
c.*727+6C= (n.*727+6C=)
c.*1194+6C= (n.*1194+6C=)
c.78+6C= (n.78+6C=)
c.1197+6C= (n.1197+6C=)
c.1422+6C= (n.1422+6C=)
c.1353+6C= (n.1353+6C=)
11g.66850215C=CA1979879229PCc.2718+5G= (n.2718+5G=)
n.290-150G=
c.*727+5G= (n.*727+5G=)
c.*1194+5G= (n.*1194+5G=)
c.78+5G= (n.78+5G=)
c.1197+5G= (n.1197+5G=)
c.1422+5G= (n.1422+5G=)
c.1353+5G= (n.1353+5G=)
11g.66850215C>TCA1979879231PCc.2718+5G>A (n.2718+5G>A)
n.290-150G>A
c.*727+5G>A (n.*727+5G>A)
c.*1194+5G>A (n.*1194+5G>A)
c.78+5G>A (n.78+5G>A)
c.1197+5G>A (n.1197+5G>A)
c.1422+5G>A (n.1422+5G>A)
c.1353+5G>A (n.1353+5G>A)
dbSNP
11g.66850217C=CA1979879233PCc.2718+3G= (n.2718+3G=)
n.290-152G=
c.*727+3G= (n.*727+3G=)
c.*1194+3G= (n.*1194+3G=)
c.78+3G= (n.78+3G=)
c.1197+3G= (n.1197+3G=)
c.1422+3G= (n.1422+3G=)
c.1353+3G= (n.1353+3G=)
11g.66850217C>TCA6131008PCc.2718+3G>A (n.2718+3G>A)
n.290-152G>A
c.*727+3G>A (n.*727+3G>A)
c.*1194+3G>A (n.*1194+3G>A)
c.78+3G>A (n.78+3G>A)
c.1197+3G>A (n.1197+3G>A)
c.1422+3G>A (n.1422+3G>A)
c.1353+3G>A (n.1353+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850218A>CCA381492244PCc.2718+2T>G (n.2718+2T>G)
n.290-153T>G
c.*727+2T>G (n.*727+2T>G)
c.*1194+2T>G (n.*1194+2T>G)
c.78+2T>G (n.78+2T>G)
c.1197+2T>G (n.1197+2T>G)
c.1422+2T>G (n.1422+2T>G)
c.1353+2T>G (n.1353+2T>G)
COSMIC
11g.66850218A>GCA381492245PCc.2718+2T>C (n.2718+2T>C)
n.290-153T>C
c.*727+2T>C (n.*727+2T>C)
c.*1194+2T>C (n.*1194+2T>C)
c.78+2T>C (n.78+2T>C)
c.1197+2T>C (n.1197+2T>C)
c.1422+2T>C (n.1422+2T>C)
c.1353+2T>C (n.1353+2T>C)
11g.66850218A>TCA381492247PCc.2718+2T>A (n.2718+2T>A)
n.290-153T>A
c.*727+2T>A (n.*727+2T>A)
c.*1194+2T>A (n.*1194+2T>A)
c.78+2T>A (n.78+2T>A)
c.1197+2T>A (n.1197+2T>A)
c.1422+2T>A (n.1422+2T>A)
c.1353+2T>A (n.1353+2T>A)
11g.66850219C>ACA381492252PCc.2718+1G>T (n.2718+1G>T)
n.290-154G>T
c.*727+1G>T (n.*727+1G>T)
c.*1194+1G>T (n.*1194+1G>T)
c.78+1G>T (n.78+1G>T)
c.1197+1G>T (n.1197+1G>T)
c.1422+1G>T (n.1422+1G>T)
c.1353+1G>T (n.1353+1G>T)
11g.66850219C>GCA381492249PCc.2718+1G>C (n.2718+1G>C)
n.290-154G>C
c.*727+1G>C (n.*727+1G>C)
c.*1194+1G>C (n.*1194+1G>C)
c.78+1G>C (n.78+1G>C)
c.1197+1G>C (n.1197+1G>C)
c.1422+1G>C (n.1422+1G>C)
c.1353+1G>C (n.1353+1G>C)
11g.66850219C>TCA381492250PCc.2718+1G>A (n.2718+1G>A)
n.290-154G>A
c.*727+1G>A (n.*727+1G>A)
c.*1194+1G>A (n.*1194+1G>A)
c.78+1G>A (n.78+1G>A)
c.1197+1G>A (n.1197+1G>A)
c.1422+1G>A (n.1422+1G>A)
c.1353+1G>A (n.1353+1G>A)
11g.66850220C>ACA381492254PCc.2718G>T (p.Lys906Asn)
n.290-155G>T
c.*727G>T (n.*727G>T)
c.*1194G>T (n.*1194G>T)
c.78G>T (p.Lys26Asn)
c.1197G>T (p.Lys399Asn)
c.1422G>T (p.Lys474Asn)
c.1353G>T (p.Lys451Asn)
11g.66850220C>GCA381492255PCc.2718G>C (p.Lys906Asn)
n.290-155G>C
c.*727G>C (n.*727G>C)
c.*1194G>C (n.*1194G>C)
c.78G>C (p.Lys26Asn)
c.1197G>C (p.Lys399Asn)
c.1422G>C (p.Lys474Asn)
c.1353G>C (p.Lys451Asn)
11g.66850220C>TCA475501295PCc.2718G>A (p.Lys906=)
n.290-155G>A
c.*727G>A (n.*727G>A)
c.*1194G>A (n.*1194G>A)
c.78G>A (p.Lys26=)
c.1197G>A (p.Lys399=)
c.1422G>A (p.Lys474=)
c.1353G>A (p.Lys451=)
11g.66850221T>ACA381492257PCc.2717A>T (p.Lys906Met)
n.290-156A>T
c.*726A>T (n.*726A>T)
c.*1193A>T (n.*1193A>T)
c.77A>T (p.Lys26Met)
c.1196A>T (p.Lys399Met)
c.1421A>T (p.Lys474Met)
c.1352A>T (p.Lys451Met)
11g.66850221T>CCA381492259PCc.2717A>G (p.Lys906Arg)
n.290-156A>G
c.*726A>G (n.*726A>G)
c.*1193A>G (n.*1193A>G)
c.77A>G (p.Lys26Arg)
c.1196A>G (p.Lys399Arg)
c.1421A>G (p.Lys474Arg)
c.1352A>G (p.Lys451Arg)
dbSNP
11g.66850221T>GCA381492260PCc.2717A>C (p.Lys906Thr)
n.290-156A>C
c.*726A>C (n.*726A>C)
c.*1193A>C (n.*1193A>C)
c.77A>C (p.Lys26Thr)
c.1196A>C (p.Lys399Thr)
c.1421A>C (p.Lys474Thr)
c.1352A>C (p.Lys451Thr)
11g.66850221T=CA1979879239PCc.2717A= (p.Lys906=)
n.290-156A=
c.*726A= (n.*726A=)
c.*1193A= (n.*1193A=)
c.77A= (p.Lys26=)
c.1196A= (p.Lys399=)
c.1421A= (p.Lys474=)
c.1352A= (p.Lys451=)
11g.66850221_66850224delinsTTGACA1979879238PCc.2714_2717delinsTCAA (p.Ile905=)
n.290-159_290-156delinsTCAA
c.*723_*726delinsTCAA (n.*723_*726delinsTCAA)
c.*1190_*1193delinsTCAA (n.*1190_*1193delinsTCAA)
c.74_77delinsTCAA (p.Ile25=)
c.1193_1196delinsTCAA (p.Ile398=)
c.1418_1421delinsTCAA (p.Ile473=)
c.1349_1352delinsTCAA (p.Ile450=)
11g.66850222_66850225delCA912972934PCc.2714_2717del (p.Ile905ArgfsTer2)
n.290-159_290-156del
c.*723_*726del (n.*723_*726del)
c.*1190_*1193del (n.*1190_*1193del)
c.74_77del (p.Ile25ArgfsTer2)
c.1193_1196del (p.Ile398ArgfsTer2)
c.1418_1421del (p.Ile473ArgfsTer2)
c.1349_1352del (p.Ile450ArgfsTer2)
11g.66850222T>ACA381492261PCc.2716A>T (p.Lys906Ter)
n.290-157A>T
c.*725A>T (n.*725A>T)
c.*1192A>T (n.*1192A>T)
c.76A>T (p.Lys26Ter)
c.1195A>T (p.Lys399Ter)
c.1420A>T (p.Lys474Ter)
c.1351A>T (p.Lys451Ter)
11g.66850222T>CCA381492265PCc.2716A>G (p.Lys906Glu)
n.290-157A>G
c.*725A>G (n.*725A>G)
c.*1192A>G (n.*1192A>G)
c.76A>G (p.Lys26Glu)
c.1195A>G (p.Lys399Glu)
c.1420A>G (p.Lys474Glu)
c.1351A>G (p.Lys451Glu)
11g.66850222T>GCA381492263PCc.2716A>C (p.Lys906Gln)
n.290-157A>C
c.*725A>C (n.*725A>C)
c.*1192A>C (n.*1192A>C)
c.76A>C (p.Lys26Gln)
c.1195A>C (p.Lys399Gln)
c.1420A>C (p.Lys474Gln)
c.1351A>C (p.Lys451Gln)
11g.66850225_66850227delCA658821721PCc.2714_2716del (p.Ile905del)
n.290-159_290-157del
c.*723_*725del (n.*723_*725del)
c.*1190_*1192del (n.*1190_*1192del)
c.74_76del (p.Ile25del)
c.1193_1195del (p.Ile398del)
c.1418_1420del (p.Ile473del)
c.1349_1351del (p.Ile450del)
ClinVar dbSNP
11g.66850223G>ACA6131009PCc.2715C>T (p.Ile905=)
n.290-158C>T
c.*724C>T (n.*724C>T)
c.*1191C>T (n.*1191C>T)
c.75C>T (p.Ile25=)
c.1194C>T (p.Ile398=)
c.1419C>T (p.Ile473=)
c.1350C>T (p.Ile450=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850223G>CCA381492266PCc.2715C>G (p.Ile905Met)
n.290-158C>G
c.*724C>G (n.*724C>G)
c.*1191C>G (n.*1191C>G)
c.75C>G (p.Ile25Met)
c.1194C>G (p.Ile398Met)
c.1419C>G (p.Ile473Met)
c.1350C>G (p.Ile450Met)
11g.66850223G=CA1979879250PCc.2715C= (p.Ile905=)
n.290-158C=
c.*724C= (n.*724C=)
c.*1191C= (n.*1191C=)
c.75C= (p.Ile25=)
c.1194C= (p.Ile398=)
c.1419C= (p.Ile473=)
c.1350C= (p.Ile450=)
11g.66850223G>TCA475501296PCc.2715C>A (p.Ile905=)
n.290-158C>A
c.*724C>A (n.*724C>A)
c.*1191C>A (n.*1191C>A)
c.75C>A (p.Ile25=)
c.1194C>A (p.Ile398=)
c.1419C>A (p.Ile473=)
c.1350C>A (p.Ile450=)
11g.66850224A>CCA381492268PCc.2714T>G (p.Ile905Ser)
n.290-159T>G
c.*723T>G (n.*723T>G)
c.*1190T>G (n.*1190T>G)
c.74T>G (p.Ile25Ser)
c.1193T>G (p.Ile398Ser)
c.1418T>G (p.Ile473Ser)
c.1349T>G (p.Ile450Ser)
11g.66850224A>GCA381492270PCc.2714T>C (p.Ile905Thr)
n.290-159T>C
c.*723T>C (n.*723T>C)
c.*1190T>C (n.*1190T>C)
c.74T>C (p.Ile25Thr)
c.1193T>C (p.Ile398Thr)
c.1418T>C (p.Ile473Thr)
c.1349T>C (p.Ile450Thr)
11g.66850224A>TCA381492272PCc.2714T>A (p.Ile905Asn)
n.290-159T>A
c.*723T>A (n.*723T>A)
c.*1190T>A (n.*1190T>A)
c.74T>A (p.Ile25Asn)
c.1193T>A (p.Ile398Asn)
c.1418T>A (p.Ile473Asn)
c.1349T>A (p.Ile450Asn)
11g.66850225T>ACA381492273PCc.2713A>T (p.Ile905Phe)
n.290-160A>T
c.*722A>T (n.*722A>T)
c.*1189A>T (n.*1189A>T)
c.73A>T (p.Ile25Phe)
c.1192A>T (p.Ile398Phe)
c.1417A>T (p.Ile473Phe)
c.1348A>T (p.Ile450Phe)
11g.66850225T>CCA381492274PCc.2713A>G (p.Ile905Val)
n.290-160A>G
c.*722A>G (n.*722A>G)
c.*1189A>G (n.*1189A>G)
c.73A>G (p.Ile25Val)
c.1192A>G (p.Ile398Val)
c.1417A>G (p.Ile473Val)
c.1348A>G (p.Ile450Val)
gnomAD v4
11g.66850225T>GCA381492275PCc.2713A>C (p.Ile905Leu)
n.290-160A>C
c.*722A>C (n.*722A>C)
c.*1189A>C (n.*1189A>C)
c.73A>C (p.Ile25Leu)
c.1192A>C (p.Ile398Leu)
c.1417A>C (p.Ile473Leu)
c.1348A>C (p.Ile450Leu)
gnomAD v4
11g.66850226G>ACA475501297PCc.2712C>T (p.Leu904=)
n.290-161C>T
c.*721C>T (n.*721C>T)
c.*1188C>T (n.*1188C>T)
c.72C>T (p.Leu24=)
c.1191C>T (p.Leu397=)
c.1416C>T (p.Leu472=)
c.1347C>T (p.Leu449=)
ClinVar dbSNP gnomAD v4
11g.66850226G>CCA475501298PCc.2712C>G (p.Leu904=)
n.290-161C>G
c.*721C>G (n.*721C>G)
c.*1188C>G (n.*1188C>G)
c.72C>G (p.Leu24=)
c.1191C>G (p.Leu397=)
c.1416C>G (p.Leu472=)
c.1347C>G (p.Leu449=)
11g.66850226G=CA1979879253PCc.2712C= (p.Leu904=)
n.290-161C=
c.*721C= (n.*721C=)
c.*1188C= (n.*1188C=)
c.72C= (p.Leu24=)
c.1191C= (p.Leu397=)
c.1416C= (p.Leu472=)
c.1347C= (p.Leu449=)
11g.66850226G>TCA475501299PCc.2712C>A (p.Leu904=)
n.290-161C>A
c.*721C>A (n.*721C>A)
c.*1188C>A (n.*1188C>A)
c.72C>A (p.Leu24=)
c.1191C>A (p.Leu397=)
c.1416C>A (p.Leu472=)
c.1347C>A (p.Leu449=)
11g.66850227A>CCA381492276PCc.2711T>G (p.Leu904Arg)
n.290-162T>G
c.*720T>G (n.*720T>G)
c.*1187T>G (n.*1187T>G)
c.71T>G (p.Leu24Arg)
c.1190T>G (p.Leu397Arg)
c.1415T>G (p.Leu472Arg)
c.1346T>G (p.Leu449Arg)
11g.66850227A>GCA381492278PCc.2711T>C (p.Leu904Pro)
n.290-162T>C
c.*720T>C (n.*720T>C)
c.*1187T>C (n.*1187T>C)
c.71T>C (p.Leu24Pro)
c.1190T>C (p.Leu397Pro)
c.1415T>C (p.Leu472Pro)
c.1346T>C (p.Leu449Pro)
11g.66850227A>TCA381492280PCc.2711T>A (p.Leu904His)
n.290-162T>A
c.*720T>A (n.*720T>A)
c.*1187T>A (n.*1187T>A)
c.71T>A (p.Leu24His)
c.1190T>A (p.Leu397His)
c.1415T>A (p.Leu472His)
c.1346T>A (p.Leu449His)
11g.66850228G>ACA381492281PCc.2710C>T (p.Leu904Phe)
n.290-163C>T
c.*719C>T (n.*719C>T)
c.*1186C>T (n.*1186C>T)
c.70C>T (p.Leu24Phe)
c.1189C>T (p.Leu397Phe)
c.1414C>T (p.Leu472Phe)
c.1345C>T (p.Leu449Phe)
11g.66850228G>CCA381492283PCc.2710C>G (p.Leu904Val)
n.290-163C>G
c.*719C>G (n.*719C>G)
c.*1186C>G (n.*1186C>G)
c.70C>G (p.Leu24Val)
c.1189C>G (p.Leu397Val)
c.1414C>G (p.Leu472Val)
c.1345C>G (p.Leu449Val)
11g.66850228G>TCA381492282PCc.2710C>A (p.Leu904Ile)
n.290-163C>A
c.*719C>A (n.*719C>A)
c.*1186C>A (n.*1186C>A)
c.70C>A (p.Leu24Ile)
c.1189C>A (p.Leu397Ile)
c.1414C>A (p.Leu472Ile)
c.1345C>A (p.Leu449Ile)
11g.66850229A>CCA381492284PCc.2709T>G (p.Asp903Glu)
n.290-164T>G
c.*718T>G (n.*718T>G)
c.*1185T>G (n.*1185T>G)
c.69T>G (p.Asp23Glu)
c.1188T>G (p.Asp396Glu)
c.1413T>G (p.Asp471Glu)
c.1344T>G (p.Asp448Glu)
11g.66850229A>GCA475501300PCc.2709T>C (p.Asp903=)
n.290-164T>C
c.*718T>C (n.*718T>C)
c.*1185T>C (n.*1185T>C)
c.69T>C (p.Asp23=)
c.1188T>C (p.Asp396=)
c.1413T>C (p.Asp471=)
c.1344T>C (p.Asp448=)
11g.66850229A>TCA381492286PCc.2709T>A (p.Asp903Glu)
n.290-164T>A
c.*718T>A (n.*718T>A)
c.*1185T>A (n.*1185T>A)
c.69T>A (p.Asp23Glu)
c.1188T>A (p.Asp396Glu)
c.1413T>A (p.Asp471Glu)
c.1344T>A (p.Asp448Glu)
11g.66850230T>ACA381492288PCc.2708A>T (p.Asp903Val)
n.290-165A>T
c.*717A>T (n.*717A>T)
c.*1184A>T (n.*1184A>T)
c.68A>T (p.Asp23Val)
c.1187A>T (p.Asp396Val)
c.1412A>T (p.Asp471Val)
c.1343A>T (p.Asp448Val)
11g.66850230T>CCA381492289PCc.2708A>G (p.Asp903Gly)
n.290-165A>G
c.*717A>G (n.*717A>G)
c.*1184A>G (n.*1184A>G)
c.68A>G (p.Asp23Gly)
c.1187A>G (p.Asp396Gly)
c.1412A>G (p.Asp471Gly)
c.1343A>G (p.Asp448Gly)
11g.66850230T>GCA381492291PCc.2708A>C (p.Asp903Ala)
n.290-165A>C
c.*717A>C (n.*717A>C)
c.*1184A>C (n.*1184A>C)
c.68A>C (p.Asp23Ala)
c.1187A>C (p.Asp396Ala)
c.1412A>C (p.Asp471Ala)
c.1343A>C (p.Asp448Ala)
11g.66850231C>ACA381492295PCc.2707G>T (p.Asp903Tyr)
n.290-166G>T
c.*716G>T (n.*716G>T)
c.*1183G>T (n.*1183G>T)
c.67G>T (p.Asp23Tyr)
c.1186G>T (p.Asp396Tyr)
c.1411G>T (p.Asp471Tyr)
c.1342G>T (p.Asp448Tyr)
11g.66850231C=CA1979879258PCc.2707G= (p.Asp903=)
n.290-166G=
c.*716G= (n.*716G=)
c.*1183G= (n.*1183G=)
c.67G= (p.Asp23=)
c.1186G= (p.Asp396=)
c.1411G= (p.Asp471=)
c.1342G= (p.Asp448=)
11g.66850231C>GCA381492298PCc.2707G>C (p.Asp903His)
n.290-166G>C
c.*716G>C (n.*716G>C)
c.*1183G>C (n.*1183G>C)
c.67G>C (p.Asp23His)
c.1186G>C (p.Asp396His)
c.1411G>C (p.Asp471His)
c.1342G>C (p.Asp448His)
11g.66850231C>TCA6131010PCc.2707G>A (p.Asp903Asn)
n.290-166G>A
c.*716G>A (n.*716G>A)
c.*1183G>A (n.*1183G>A)
c.67G>A (p.Asp23Asn)
c.1186G>A (p.Asp396Asn)
c.1411G>A (p.Asp471Asn)
c.1342G>A (p.Asp448Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.66850232G>ACA6131011PCc.2706C>T (p.Gly902=)
n.290-167C>T
c.*715C>T (n.*715C>T)
c.*1182C>T (n.*1182C>T)
c.66C>T (p.Gly22=)
c.1185C>T (p.Gly395=)
c.1410C>T (p.Gly470=)
c.1341C>T (p.Gly447=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850232G>CCA475501301PCc.2706C>G (p.Gly902=)
n.290-167C>G
c.*715C>G (n.*715C>G)
c.*1182C>G (n.*1182C>G)
c.66C>G (p.Gly22=)
c.1185C>G (p.Gly395=)
c.1410C>G (p.Gly470=)
c.1341C>G (p.Gly447=)
11g.66850232G=CA1979879263PCc.2706C= (p.Gly902=)
n.290-167C=
c.*715C= (n.*715C=)
c.*1182C= (n.*1182C=)
c.66C= (p.Gly22=)
c.1185C= (p.Gly395=)
c.1410C= (p.Gly470=)
c.1341C= (p.Gly447=)
11g.66850232G>TCA475501302PCc.2706C>A (p.Gly902=)
n.290-167C>A
c.*715C>A (n.*715C>A)
c.*1182C>A (n.*1182C>A)
c.66C>A (p.Gly22=)
c.1185C>A (p.Gly395=)
c.1410C>A (p.Gly470=)
c.1341C>A (p.Gly447=)
11g.66850233C>ACA381492303PCc.2705G>T (p.Gly902Val)
n.290-168G>T
c.*714G>T (n.*714G>T)
c.*1181G>T (n.*1181G>T)
c.65G>T (p.Gly22Val)
c.1184G>T (p.Gly395Val)
c.1409G>T (p.Gly470Val)
c.1340G>T (p.Gly447Val)
11g.66850233C=CA1979879268PCc.2705G= (p.Gly902=)
n.290-168G=
c.*714G= (n.*714G=)
c.*1181G= (n.*1181G=)
c.65G= (p.Gly22=)
c.1184G= (p.Gly395=)
c.1409G= (p.Gly470=)
c.1340G= (p.Gly447=)
11g.66850233C>GCA381492305PCc.2705G>C (p.Gly902Ala)
n.290-168G>C
c.*714G>C (n.*714G>C)
c.*1181G>C (n.*1181G>C)
c.65G>C (p.Gly22Ala)
c.1184G>C (p.Gly395Ala)
c.1409G>C (p.Gly470Ala)
c.1340G>C (p.Gly447Ala)
11g.66850233C>TCA10639837PCc.2705G>A (p.Gly902Asp)
n.290-168G>A
c.*714G>A (n.*714G>A)
c.*1181G>A (n.*1181G>A)
c.65G>A (p.Gly22Asp)
c.1184G>A (p.Gly395Asp)
c.1409G>A (p.Gly470Asp)
c.1340G>A (p.Gly447Asp)
ClinVar dbSNP
11g.66850234C>ACA381492310PCc.2704G>T (p.Gly902Cys)
n.290-169G>T
c.*713G>T (n.*713G>T)
c.*1180G>T (n.*1180G>T)
c.64G>T (p.Gly22Cys)
c.1183G>T (p.Gly395Cys)
c.1408G>T (p.Gly470Cys)
c.1339G>T (p.Gly447Cys)
11g.66850234C>GCA381492307PCc.2704G>C (p.Gly902Arg)
n.290-169G>C
c.*713G>C (n.*713G>C)
c.*1180G>C (n.*1180G>C)
c.64G>C (p.Gly22Arg)
c.1183G>C (p.Gly395Arg)
c.1408G>C (p.Gly470Arg)
c.1339G>C (p.Gly447Arg)
11g.66850234C>TCA381492309PCc.2704G>A (p.Gly902Ser)
n.290-169G>A
c.*713G>A (n.*713G>A)
c.*1180G>A (n.*1180G>A)
c.64G>A (p.Gly22Ser)
c.1183G>A (p.Gly395Ser)
c.1408G>A (p.Gly470Ser)
c.1339G>A (p.Gly447Ser)
11g.66850235C>ACA475501303PCc.2703G>T (p.Leu901=)
n.290-170G>T
c.*712G>T (n.*712G>T)
c.*1179G>T (n.*1179G>T)
c.63G>T (p.Leu21=)
c.1182G>T (p.Leu394=)
c.1407G>T (p.Leu469=)
c.1338G>T (p.Leu446=)
11g.66850235C=CA1979879273PCc.2703G= (p.Leu901=)
n.290-170G=
c.*712G= (n.*712G=)
c.*1179G= (n.*1179G=)
c.63G= (p.Leu21=)
c.1182G= (p.Leu394=)
c.1407G= (p.Leu469=)
c.1338G= (p.Leu446=)
11g.66850235C>GCA475501304PCc.2703G>C (p.Leu901=)
n.290-170G>C
c.*712G>C (n.*712G>C)
c.*1179G>C (n.*1179G>C)
c.63G>C (p.Leu21=)
c.1182G>C (p.Leu394=)
c.1407G>C (p.Leu469=)
c.1338G>C (p.Leu446=)
11g.66850235C>TCA6131012PCc.2703G>A (p.Leu901=)
n.290-170G>A
c.*712G>A (n.*712G>A)
c.*1179G>A (n.*1179G>A)
c.63G>A (p.Leu21=)
c.1182G>A (p.Leu394=)
c.1407G>A (p.Leu469=)
c.1338G>A (p.Leu446=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850236A>CCA381492313PCc.2702T>G (p.Leu901Arg)
n.290-171T>G
c.*711T>G (n.*711T>G)
c.*1178T>G (n.*1178T>G)
c.62T>G (p.Leu21Arg)
c.1181T>G (p.Leu394Arg)
c.1406T>G (p.Leu469Arg)
c.1337T>G (p.Leu446Arg)
11g.66850236A>GCA381492314PCc.2702T>C (p.Leu901Pro)
n.290-171T>C
c.*711T>C (n.*711T>C)
c.*1178T>C (n.*1178T>C)
c.62T>C (p.Leu21Pro)
c.1181T>C (p.Leu394Pro)
c.1406T>C (p.Leu469Pro)
c.1337T>C (p.Leu446Pro)
11g.66850236A>TCA381492316PCc.2702T>A (p.Leu901Gln)
n.290-171T>A
c.*711T>A (n.*711T>A)
c.*1178T>A (n.*1178T>A)
c.62T>A (p.Leu21Gln)
c.1181T>A (p.Leu394Gln)
c.1406T>A (p.Leu469Gln)
c.1337T>A (p.Leu446Gln)
11g.66850237G>ACA475501305PCc.2701C>T (p.Leu901=)
n.290-172C>T
c.*710C>T (n.*710C>T)
c.*1177C>T (n.*1177C>T)
c.61C>T (p.Leu21=)
c.1180C>T (p.Leu394=)
c.1405C>T (p.Leu469=)
c.1336C>T (p.Leu446=)
11g.66850237G>CCA381492317PCc.2701C>G (p.Leu901Val)
n.290-172C>G
c.*710C>G (n.*710C>G)
c.*1177C>G (n.*1177C>G)
c.61C>G (p.Leu21Val)
c.1180C>G (p.Leu394Val)
c.1405C>G (p.Leu469Val)
c.1336C>G (p.Leu446Val)
11g.66850237G>TCA381492318PCc.2701C>A (p.Leu901Met)
n.290-172C>A
c.*710C>A (n.*710C>A)
c.*1177C>A (n.*1177C>A)
c.61C>A (p.Leu21Met)
c.1180C>A (p.Leu394Met)
c.1405C>A (p.Leu469Met)
c.1336C>A (p.Leu446Met)
11g.66850238C>ACA381492321PCc.2700G>T (p.Met900Ile)
n.290-173G>T
c.*709G>T (n.*709G>T)
c.*1176G>T (n.*1176G>T)
c.60G>T (p.Met20Ile)
c.1179G>T (p.Met393Ile)
c.1404G>T (p.Met468Ile)
c.1335G>T (p.Met445Ile)
11g.66850238C>GCA381492322PCc.2700G>C (p.Met900Ile)
n.290-173G>C
c.*709G>C (n.*709G>C)
c.*1176G>C (n.*1176G>C)
c.60G>C (p.Met20Ile)
c.1179G>C (p.Met393Ile)
c.1404G>C (p.Met468Ile)
c.1335G>C (p.Met445Ile)
11g.66850238C>TCA381492324PCc.2700G>A (p.Met900Ile)
n.290-173G>A
c.*709G>A (n.*709G>A)
c.*1176G>A (n.*1176G>A)
c.60G>A (p.Met20Ile)
c.1179G>A (p.Met393Ile)
c.1404G>A (p.Met468Ile)
c.1335G>A (p.Met445Ile)
11g.66850239A>CCA381492325PCc.2699T>G (p.Met900Arg)
n.290-174T>G
c.*708T>G (n.*708T>G)
c.*1175T>G (n.*1175T>G)
c.59T>G (p.Met20Arg)
c.1178T>G (p.Met393Arg)
c.1403T>G (p.Met468Arg)
c.1334T>G (p.Met445Arg)
11g.66850239A>GCA381492326PCc.2699T>C (p.Met900Thr)
n.290-174T>C
c.*708T>C (n.*708T>C)
c.*1175T>C (n.*1175T>C)
c.59T>C (p.Met20Thr)
c.1178T>C (p.Met393Thr)
c.1403T>C (p.Met468Thr)
c.1334T>C (p.Met445Thr)
gnomAD v4
11g.66850239A>TCA381492327PCc.2699T>A (p.Met900Lys)
n.290-174T>A
c.*708T>A (n.*708T>A)
c.*1175T>A (n.*1175T>A)
c.59T>A (p.Met20Lys)
c.1178T>A (p.Met393Lys)
c.1403T>A (p.Met468Lys)
c.1334T>A (p.Met445Lys)
11g.66850240T>ACA381492330PCc.2698A>T (p.Met900Leu)
n.290-175A>T
c.*707A>T (n.*707A>T)
c.*1174A>T (n.*1174A>T)
c.58A>T (p.Met20Leu)
c.1177A>T (p.Met393Leu)
c.1402A>T (p.Met468Leu)
c.1333A>T (p.Met445Leu)
gnomAD v4
11g.66850240T>CCA381492329PCc.2698A>G (p.Met900Val)
n.290-175A>G
c.*707A>G (n.*707A>G)
c.*1174A>G (n.*1174A>G)
c.58A>G (p.Met20Val)
c.1177A>G (p.Met393Val)
c.1402A>G (p.Met468Val)
c.1333A>G (p.Met445Val)
11g.66850240T>GCA381492328PCc.2698A>C (p.Met900Leu)
n.290-175A>C
c.*707A>C (n.*707A>C)
c.*1174A>C (n.*1174A>C)
c.58A>C (p.Met20Leu)
c.1177A>C (p.Met393Leu)
c.1402A>C (p.Met468Leu)
c.1333A>C (p.Met445Leu)
11g.66850241C>ACA381492331PCc.2697G>T (p.Gln899His)
n.290-176G>T
c.*706G>T (n.*706G>T)
c.*1173G>T (n.*1173G>T)
c.57G>T (p.Gln19His)
c.1176G>T (p.Gln392His)
c.1401G>T (p.Gln467His)
c.1332G>T (p.Gln444His)
11g.66850241C=CA1979879276PCc.2697G= (p.Gln899=)
n.290-176G=
c.*706G= (n.*706G=)
c.*1173G= (n.*1173G=)
c.57G= (p.Gln19=)
c.1176G= (p.Gln392=)
c.1401G= (p.Gln467=)
c.1332G= (p.Gln444=)
11g.66850241C>GCA6131013PCc.2697G>C (p.Gln899His)
n.290-176G>C
c.*706G>C (n.*706G>C)
c.*1173G>C (n.*1173G>C)
c.57G>C (p.Gln19His)
c.1176G>C (p.Gln392His)
c.1401G>C (p.Gln467His)
c.1332G>C (p.Gln444His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850241C>TCA475501306PCc.2697G>A (p.Gln899=)
n.290-176G>A
c.*706G>A (n.*706G>A)
c.*1173G>A (n.*1173G>A)
c.57G>A (p.Gln19=)
c.1176G>A (p.Gln392=)
c.1401G>A (p.Gln467=)
c.1332G>A (p.Gln444=)
11g.66850242T>ACA381492334PCc.2696A>T (p.Gln899Leu)
n.290-177A>T
c.*705A>T (n.*705A>T)
c.*1172A>T (n.*1172A>T)
c.56A>T (p.Gln19Leu)
c.1175A>T (p.Gln392Leu)
c.1400A>T (p.Gln467Leu)
c.1331A>T (p.Gln444Leu)
11g.66850242T>CCA381492332PCc.2696A>G (p.Gln899Arg)
n.290-177A>G
c.*705A>G (n.*705A>G)
c.*1172A>G (n.*1172A>G)
c.56A>G (p.Gln19Arg)
c.1175A>G (p.Gln392Arg)
c.1400A>G (p.Gln467Arg)
c.1331A>G (p.Gln444Arg)
11g.66850242T>GCA381492333PCc.2696A>C (p.Gln899Pro)
n.290-177A>C
c.*705A>C (n.*705A>C)
c.*1172A>C (n.*1172A>C)
c.56A>C (p.Gln19Pro)
c.1175A>C (p.Gln392Pro)
c.1400A>C (p.Gln467Pro)
c.1331A>C (p.Gln444Pro)
11g.66850243G>ACA381492335PCc.2695C>T (p.Gln899Ter)
n.290-178C>T
c.*704C>T (n.*704C>T)
c.*1171C>T (n.*1171C>T)
c.55C>T (p.Gln19Ter)
c.1174C>T (p.Gln392Ter)
c.1399C>T (p.Gln467Ter)
c.1330C>T (p.Gln444Ter)
11g.66850243G>CCA381492336PCc.2695C>G (p.Gln899Glu)
n.290-178C>G
c.*704C>G (n.*704C>G)
c.*1171C>G (n.*1171C>G)
c.55C>G (p.Gln19Glu)
c.1174C>G (p.Gln392Glu)
c.1399C>G (p.Gln467Glu)
c.1330C>G (p.Gln444Glu)
11g.66850243G>TCA381492337PCc.2695C>A (p.Gln899Lys)
n.290-178C>A
c.*704C>A (n.*704C>A)
c.*1171C>A (n.*1171C>A)
c.55C>A (p.Gln19Lys)
c.1174C>A (p.Gln392Lys)
c.1399C>A (p.Gln467Lys)
c.1330C>A (p.Gln444Lys)
11g.66850244delCA2580084569PCc.2695del (p.Gln899ArgfsTer9)
n.290-178del
c.*704del (n.*704del)
c.*1171del (n.*1171del)
c.55del (p.Gln19ArgfsTer9)
c.1174del (p.Gln392ArgfsTer9)
c.1399del (p.Gln467ArgfsTer9)
c.1330del (p.Gln444ArgfsTer9)
ClinVar
11g.66850244G>ACA475501307PCc.2694C>T (p.Asn898=)
n.290-179C>T
c.*703C>T (n.*703C>T)
c.*1170C>T (n.*1170C>T)
c.54C>T (p.Asn18=)
c.1173C>T (p.Asn391=)
c.1398C>T (p.Asn466=)
c.1329C>T (p.Asn443=)
gnomAD v4
11g.66850244G>CCA381492338PCc.2694C>G (p.Asn898Lys)
n.290-179C>G
c.*703C>G (n.*703C>G)
c.*1170C>G (n.*1170C>G)
c.54C>G (p.Asn18Lys)
c.1173C>G (p.Asn391Lys)
c.1398C>G (p.Asn466Lys)
c.1329C>G (p.Asn443Lys)
11g.66850244G>TCA381492339PCc.2694C>A (p.Asn898Lys)
n.290-179C>A
c.*703C>A (n.*703C>A)
c.*1170C>A (n.*1170C>A)
c.54C>A (p.Asn18Lys)
c.1173C>A (p.Asn391Lys)
c.1398C>A (p.Asn466Lys)
c.1329C>A (p.Asn443Lys)
11g.66850245T>ACA381492340PCc.2693A>T (p.Asn898Ile)
n.290-180A>T
c.*702A>T (n.*702A>T)
c.*1169A>T (n.*1169A>T)
c.53A>T (p.Asn18Ile)
c.1172A>T (p.Asn391Ile)
c.1397A>T (p.Asn466Ile)
c.1328A>T (p.Asn443Ile)
gnomAD v4
11g.66850245T>CCA6131014PCc.2693A>G (p.Asn898Ser)
n.290-180A>G
c.*702A>G (n.*702A>G)
c.*1169A>G (n.*1169A>G)
c.53A>G (p.Asn18Ser)
c.1172A>G (p.Asn391Ser)
c.1397A>G (p.Asn466Ser)
c.1328A>G (p.Asn443Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850245T>GCA381492341PCc.2693A>C (p.Asn898Thr)
n.290-180A>C
c.*702A>C (n.*702A>C)
c.*1169A>C (n.*1169A>C)
c.53A>C (p.Asn18Thr)
c.1172A>C (p.Asn391Thr)
c.1397A>C (p.Asn466Thr)
c.1328A>C (p.Asn443Thr)
11g.66850245T=CA1979879279PCc.2693A= (p.Asn898=)
n.290-180A=
c.*702A= (n.*702A=)
c.*1169A= (n.*1169A=)
c.53A= (p.Asn18=)
c.1172A= (p.Asn391=)
c.1397A= (p.Asn466=)
c.1328A= (p.Asn443=)
11g.66850246T>ACA381492342PCc.2692A>T (p.Asn898Tyr)
n.290-181A>T
c.*701A>T (n.*701A>T)
c.*1168A>T (n.*1168A>T)
c.52A>T (p.Asn18Tyr)
c.1171A>T (p.Asn391Tyr)
c.1396A>T (p.Asn466Tyr)
c.1327A>T (p.Asn443Tyr)
11g.66850246T>CCA381492343PCc.2692A>G (p.Asn898Asp)
n.290-181A>G
c.*701A>G (n.*701A>G)
c.*1168A>G (n.*1168A>G)
c.52A>G (p.Asn18Asp)
c.1171A>G (p.Asn391Asp)
c.1396A>G (p.Asn466Asp)
c.1327A>G (p.Asn443Asp)
11g.66850246T>GCA381492344PCc.2692A>C (p.Asn898His)
n.290-181A>C
c.*701A>C (n.*701A>C)
c.*1168A>C (n.*1168A>C)
c.52A>C (p.Asn18His)
c.1171A>C (p.Asn391His)
c.1396A>C (p.Asn466His)
c.1327A>C (p.Asn443His)
11g.66850247G>ACA475501308PCc.2691C>T (p.Ala897=)
n.290-182C>T
c.*700C>T (n.*700C>T)
c.*1167C>T (n.*1167C>T)
c.51C>T (p.Ala17=)
c.1170C>T (p.Ala390=)
c.1395C>T (p.Ala465=)
c.1326C>T (p.Ala442=)
ClinVar dbSNP
11g.66850247G>CCA475501309PCc.2691C>G (p.Ala897=)
n.290-182C>G
c.*700C>G (n.*700C>G)
c.*1167C>G (n.*1167C>G)
c.51C>G (p.Ala17=)
c.1170C>G (p.Ala390=)
c.1395C>G (p.Ala465=)
c.1326C>G (p.Ala442=)
11g.66850247G>TCA475501310PCc.2691C>A (p.Ala897=)
n.290-182C>A
c.*700C>A (n.*700C>A)
c.*1167C>A (n.*1167C>A)
c.51C>A (p.Ala17=)
c.1170C>A (p.Ala390=)
c.1395C>A (p.Ala465=)
c.1326C>A (p.Ala442=)
11g.66850248G>ACA381492347PCc.2690C>T (p.Ala897Val)
n.290-183C>T
c.*699C>T (n.*699C>T)
c.*1166C>T (n.*1166C>T)
c.50C>T (p.Ala17Val)
c.1169C>T (p.Ala390Val)
c.1394C>T (p.Ala465Val)
c.1325C>T (p.Ala442Val)
dbSNP
11g.66850248G>CCA381492345PCc.2690C>G (p.Ala897Gly)
n.290-183C>G
c.*699C>G (n.*699C>G)
c.*1166C>G (n.*1166C>G)
c.50C>G (p.Ala17Gly)
c.1169C>G (p.Ala390Gly)
c.1394C>G (p.Ala465Gly)
c.1325C>G (p.Ala442Gly)
11g.66850248G=CA1979879284PCc.2690C= (p.Ala897=)
n.290-183C=
c.*699C= (n.*699C=)
c.*1166C= (n.*1166C=)
c.50C= (p.Ala17=)
c.1169C= (p.Ala390=)
c.1394C= (p.Ala465=)
c.1325C= (p.Ala442=)
11g.66850248G>TCA381492346PCc.2690C>A (p.Ala897Asp)
n.290-183C>A
c.*699C>A (n.*699C>A)
c.*1166C>A (n.*1166C>A)
c.50C>A (p.Ala17Asp)
c.1169C>A (p.Ala390Asp)
c.1394C>A (p.Ala465Asp)
c.1325C>A (p.Ala442Asp)
gnomAD v4
11g.66850249C>ACA381492348PCc.2689G>T (p.Ala897Ser)
n.290-184G>T
c.*698G>T (n.*698G>T)
c.*1165G>T (n.*1165G>T)
c.49G>T (p.Ala17Ser)
c.1168G>T (p.Ala390Ser)
c.1393G>T (p.Ala465Ser)
c.1324G>T (p.Ala442Ser)
11g.66850249C>GCA381492349PCc.2689G>C (p.Ala897Pro)
n.290-184G>C
c.*698G>C (n.*698G>C)
c.*1165G>C (n.*1165G>C)
c.49G>C (p.Ala17Pro)
c.1168G>C (p.Ala390Pro)
c.1393G>C (p.Ala465Pro)
c.1324G>C (p.Ala442Pro)
11g.66850249C>TCA381492350PCc.2689G>A (p.Ala897Thr)
n.290-184G>A
c.*698G>A (n.*698G>A)
c.*1165G>A (n.*1165G>A)
c.49G>A (p.Ala17Thr)
c.1168G>A (p.Ala390Thr)
c.1393G>A (p.Ala465Thr)
c.1324G>A (p.Ala442Thr)
11g.66850250C>ACA381492351PCc.2688G>T (p.Glu896Asp)
n.290-185G>T
c.*697G>T (n.*697G>T)
c.*1164G>T (n.*1164G>T)
c.48G>T (p.Glu16Asp)
c.1167G>T (p.Glu389Asp)
c.1392G>T (p.Glu464Asp)
c.1323G>T (p.Glu441Asp)
COSMIC
11g.66850250C>GCA381492352PCc.2688G>C (p.Glu896Asp)
n.290-185G>C
c.*697G>C (n.*697G>C)
c.*1164G>C (n.*1164G>C)
c.48G>C (p.Glu16Asp)
c.1167G>C (p.Glu389Asp)
c.1392G>C (p.Glu464Asp)
c.1323G>C (p.Glu441Asp)
11g.66850250C>TCA475501311PCc.2688G>A (p.Glu896=)
n.290-185G>A
c.*697G>A (n.*697G>A)
c.*1164G>A (n.*1164G>A)
c.48G>A (p.Glu16=)
c.1167G>A (p.Glu389=)
c.1392G>A (p.Glu464=)
c.1323G>A (p.Glu441=)
ClinVar gnomAD v4
11g.66850251T>ACA381492353PCc.2687A>T (p.Glu896Val)
n.290-186A>T
c.*696A>T (n.*696A>T)
c.*1163A>T (n.*1163A>T)
c.47A>T (p.Glu16Val)
c.1166A>T (p.Glu389Val)
c.1391A>T (p.Glu464Val)
c.1322A>T (p.Glu441Val)
11g.66850251T>CCA381492354PCc.2687A>G (p.Glu896Gly)
n.290-186A>G
c.*696A>G (n.*696A>G)
c.*1163A>G (n.*1163A>G)
c.47A>G (p.Glu16Gly)
c.1166A>G (p.Glu389Gly)
c.1391A>G (p.Glu464Gly)
c.1322A>G (p.Glu441Gly)
11g.66850251T>GCA381492355PCc.2687A>C (p.Glu896Ala)
n.290-186A>C
c.*696A>C (n.*696A>C)
c.*1163A>C (n.*1163A>C)
c.47A>C (p.Glu16Ala)
c.1166A>C (p.Glu389Ala)
c.1391A>C (p.Glu464Ala)
c.1322A>C (p.Glu441Ala)
11g.66850252C>ACA381492356PCc.2686G>T (p.Glu896Ter)
n.290-187G>T
c.*695G>T (n.*695G>T)
c.*1162G>T (n.*1162G>T)
c.46G>T (p.Glu16Ter)
c.1165G>T (p.Glu389Ter)
c.1390G>T (p.Glu464Ter)
c.1321G>T (p.Glu441Ter)
11g.66850252C=CA1979879288PCc.2686G= (p.Glu896=)
n.290-187G=
c.*695G= (n.*695G=)
c.*1162G= (n.*1162G=)
c.46G= (p.Glu16=)
c.1165G= (p.Glu389=)
c.1390G= (p.Glu464=)
c.1321G= (p.Glu441=)
11g.66850252C>GCA381492357PCc.2686G>C (p.Glu896Gln)
n.290-187G>C
c.*695G>C (n.*695G>C)
c.*1162G>C (n.*1162G>C)
c.46G>C (p.Glu16Gln)
c.1165G>C (p.Glu389Gln)
c.1390G>C (p.Glu464Gln)
c.1321G>C (p.Glu441Gln)
11g.66850252C>TCA6131015PCc.2686G>A (p.Glu896Lys)
n.290-187G>A
c.*695G>A (n.*695G>A)
c.*1162G>A (n.*1162G>A)
c.46G>A (p.Glu16Lys)
c.1165G>A (p.Glu389Lys)
c.1390G>A (p.Glu464Lys)
c.1321G>A (p.Glu441Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850253C>ACA475501312PCc.2685G>T (p.Val895=)
n.290-188G>T
c.*694G>T (n.*694G>T)
c.*1161G>T (n.*1161G>T)
c.45G>T (p.Val15=)
c.1164G>T (p.Val388=)
c.1389G>T (p.Val463=)
c.1320G>T (p.Val440=)
11g.66850253C>GCA475501313PCc.2685G>C (p.Val895=)
n.290-188G>C
c.*694G>C (n.*694G>C)
c.*1161G>C (n.*1161G>C)
c.45G>C (p.Val15=)
c.1164G>C (p.Val388=)
c.1389G>C (p.Val463=)
c.1320G>C (p.Val440=)
11g.66850253C>TCA475501314PCc.2685G>A (p.Val895=)
n.290-188G>A
c.*694G>A (n.*694G>A)
c.*1161G>A (n.*1161G>A)
c.45G>A (p.Val15=)
c.1164G>A (p.Val388=)
c.1389G>A (p.Val463=)
c.1320G>A (p.Val440=)
ClinVar
11g.66850254A>CCA381492360PCc.2684T>G (p.Val895Gly)
n.290-189T>G
c.*693T>G (n.*693T>G)
c.*1160T>G (n.*1160T>G)
c.44T>G (p.Val15Gly)
c.1163T>G (p.Val388Gly)
c.1388T>G (p.Val463Gly)
c.1319T>G (p.Val440Gly)
11g.66850254A>GCA381492359PCc.2684T>C (p.Val895Ala)
n.290-189T>C
c.*693T>C (n.*693T>C)
c.*1160T>C (n.*1160T>C)
c.44T>C (p.Val15Ala)
c.1163T>C (p.Val388Ala)
c.1388T>C (p.Val463Ala)
c.1319T>C (p.Val440Ala)
11g.66850254A>TCA381492358PCc.2684T>A (p.Val895Glu)
n.290-189T>A
c.*693T>A (n.*693T>A)
c.*1160T>A (n.*1160T>A)
c.44T>A (p.Val15Glu)
c.1163T>A (p.Val388Glu)
c.1388T>A (p.Val463Glu)
c.1319T>A (p.Val440Glu)
11g.66850255C>ACA381492361PCc.2683G>T (p.Val895Leu)
n.290-190G>T
c.*692G>T (n.*692G>T)
c.*1159G>T (n.*1159G>T)
c.43G>T (p.Val15Leu)
c.1162G>T (p.Val388Leu)
c.1387G>T (p.Val463Leu)
c.1318G>T (p.Val440Leu)
11g.66850255C=CA1979879292PCc.2683G= (p.Val895=)
n.290-190G=
c.*692G= (n.*692G=)
c.*1159G= (n.*1159G=)
c.43G= (p.Val15=)
c.1162G= (p.Val388=)
c.1387G= (p.Val463=)
c.1318G= (p.Val440=)
11g.66850255C>GCA381492362PCc.2683G>C (p.Val895Leu)
n.290-190G>C
c.*692G>C (n.*692G>C)
c.*1159G>C (n.*1159G>C)
c.43G>C (p.Val15Leu)
c.1162G>C (p.Val388Leu)
c.1387G>C (p.Val463Leu)
c.1318G>C (p.Val440Leu)
11g.66850255C>TCA6131016PCc.2683G>A (p.Val895Met)
n.290-190G>A
c.*692G>A (n.*692G>A)
c.*1159G>A (n.*1159G>A)
c.43G>A (p.Val15Met)
c.1162G>A (p.Val388Met)
c.1387G>A (p.Val463Met)
c.1318G>A (p.Val440Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850256A=CA1979879297PCc.2682T= (p.Tyr894=)
n.290-191T=
c.*691T= (n.*691T=)
c.*1158T= (n.*1158T=)
c.42T= (p.Tyr14=)
c.1161T= (p.Tyr387=)
c.1386T= (p.Tyr462=)
c.1317T= (p.Tyr439=)
11g.66850256A>CCA381492363PCc.2682T>G (p.Tyr894Ter)
n.290-191T>G
c.*691T>G (n.*691T>G)
c.*1158T>G (n.*1158T>G)
c.42T>G (p.Tyr14Ter)
c.1161T>G (p.Tyr387Ter)
c.1386T>G (p.Tyr462Ter)
c.1317T>G (p.Tyr439Ter)
11g.66850256A>GCA312866PCc.2682T>C (p.Tyr894=)
n.290-191T>C
c.*691T>C (n.*691T>C)
c.*1158T>C (n.*1158T>C)
c.42T>C (p.Tyr14=)
c.1161T>C (p.Tyr387=)
c.1386T>C (p.Tyr462=)
c.1317T>C (p.Tyr439=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850256A>TCA381492364PCc.2682T>A (p.Tyr894Ter)
n.290-191T>A
c.*691T>A (n.*691T>A)
c.*1158T>A (n.*1158T>A)
c.42T>A (p.Tyr14Ter)
c.1161T>A (p.Tyr387Ter)
c.1386T>A (p.Tyr462Ter)
c.1317T>A (p.Tyr439Ter)
11g.66850257T>ACA6131017PCc.2681A>T (p.Tyr894Phe)
n.290-192A>T
c.*690A>T (n.*690A>T)
c.*1157A>T (n.*1157A>T)
c.41A>T (p.Tyr14Phe)
c.1160A>T (p.Tyr387Phe)
c.1385A>T (p.Tyr462Phe)
c.1316A>T (p.Tyr439Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850257T>CCA381492365PCc.2681A>G (p.Tyr894Cys)
n.290-192A>G
c.*690A>G (n.*690A>G)
c.*1157A>G (n.*1157A>G)
c.41A>G (p.Tyr14Cys)
c.1160A>G (p.Tyr387Cys)
c.1385A>G (p.Tyr462Cys)
c.1316A>G (p.Tyr439Cys)
gnomAD v4
11g.66850257T>GCA381492367PCc.2681A>C (p.Tyr894Ser)
n.290-192A>C
c.*690A>C (n.*690A>C)
c.*1157A>C (n.*1157A>C)
c.41A>C (p.Tyr14Ser)
c.1160A>C (p.Tyr387Ser)
c.1385A>C (p.Tyr462Ser)
c.1316A>C (p.Tyr439Ser)
11g.66850257T=CA1979879302PCc.2681A= (p.Tyr894=)
n.290-192A=
c.*690A= (n.*690A=)
c.*1157A= (n.*1157A=)
c.41A= (p.Tyr14=)
c.1160A= (p.Tyr387=)
c.1385A= (p.Tyr462=)
c.1316A= (p.Tyr439=)
11g.66850258A>CCA381492369PCc.2680T>G (p.Tyr894Asp)
n.290-193T>G
c.*689T>G (n.*689T>G)
c.*1156T>G (n.*1156T>G)
c.40T>G (p.Tyr14Asp)
c.1159T>G (p.Tyr387Asp)
c.1384T>G (p.Tyr462Asp)
c.1315T>G (p.Tyr439Asp)
11g.66850258A>GCA381492371PCc.2680T>C (p.Tyr894His)
n.290-193T>C
c.*689T>C (n.*689T>C)
c.*1156T>C (n.*1156T>C)
c.40T>C (p.Tyr14His)
c.1159T>C (p.Tyr387His)
c.1384T>C (p.Tyr462His)
c.1315T>C (p.Tyr439His)
11g.66850258A>TCA381492372PCc.2680T>A (p.Tyr894Asn)
n.290-193T>A
c.*689T>A (n.*689T>A)
c.*1156T>A (n.*1156T>A)
c.40T>A (p.Tyr14Asn)
c.1159T>A (p.Tyr387Asn)
c.1384T>A (p.Tyr462Asn)
c.1315T>A (p.Tyr439Asn)
11g.66850259G>ACA475501317PCc.2679C>T (p.Ala893=)
n.290-194C>T
c.*688C>T (n.*688C>T)
c.*1155C>T (n.*1155C>T)
c.39C>T (p.Ala13=)
c.1158C>T (p.Ala386=)
c.1383C>T (p.Ala461=)
c.1314C>T (p.Ala438=)
ClinVar dbSNP gnomAD v4
11g.66850259G>CCA475501315PCc.2679C>G (p.Ala893=)
n.290-194C>G
c.*688C>G (n.*688C>G)
c.*1155C>G (n.*1155C>G)
c.39C>G (p.Ala13=)
c.1158C>G (p.Ala386=)
c.1383C>G (p.Ala461=)
c.1314C>G (p.Ala438=)
dbSNP
11g.66850259G=CA1979879307PCc.2679C= (p.Ala893=)
n.290-194C=
c.*688C= (n.*688C=)
c.*1155C= (n.*1155C=)
c.39C= (p.Ala13=)
c.1158C= (p.Ala386=)
c.1383C= (p.Ala461=)
c.1314C= (p.Ala438=)
11g.66850259G>TCA475501316PCc.2679C>A (p.Ala893=)
n.290-194C>A
c.*688C>A (n.*688C>A)
c.*1155C>A (n.*1155C>A)
c.39C>A (p.Ala13=)
c.1158C>A (p.Ala386=)
c.1383C>A (p.Ala461=)
c.1314C>A (p.Ala438=)
11g.66850260G>ACA6131018PCc.2678C>T (p.Ala893Val)
n.290-195C>T
c.*687C>T (n.*687C>T)
c.*1154C>T (n.*1154C>T)
c.38C>T (p.Ala13Val)
c.1157C>T (p.Ala386Val)
c.1382C>T (p.Ala461Val)
c.1313C>T (p.Ala438Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850260G>CCA381492374PCc.2678C>G (p.Ala893Gly)
n.290-195C>G
c.*687C>G (n.*687C>G)
c.*1154C>G (n.*1154C>G)
c.38C>G (p.Ala13Gly)
c.1157C>G (p.Ala386Gly)
c.1382C>G (p.Ala461Gly)
c.1313C>G (p.Ala438Gly)
11g.66850260G=CA1979879310PCc.2678C= (p.Ala893=)
n.290-195C=
c.*687C= (n.*687C=)
c.*1154C= (n.*1154C=)
c.38C= (p.Ala13=)
c.1157C= (p.Ala386=)
c.1382C= (p.Ala461=)
c.1313C= (p.Ala438=)
11g.66850260G>TCA381492373PCc.2678C>A (p.Ala893Asp)
n.290-195C>A
c.*687C>A (n.*687C>A)
c.*1154C>A (n.*1154C>A)
c.38C>A (p.Ala13Asp)
c.1157C>A (p.Ala386Asp)
c.1382C>A (p.Ala461Asp)
c.1313C>A (p.Ala438Asp)
11g.66850261C>ACA381492375PCc.2677G>T (p.Ala893Ser)
n.290-196G>T
c.*686G>T (n.*686G>T)
c.*1153G>T (n.*1153G>T)
c.37G>T (p.Ala13Ser)
c.1156G>T (p.Ala386Ser)
c.1381G>T (p.Ala461Ser)
c.1312G>T (p.Ala438Ser)
11g.66850261C>GCA381492376PCc.2677G>C (p.Ala893Pro)
n.290-196G>C
c.*686G>C (n.*686G>C)
c.*1153G>C (n.*1153G>C)
c.37G>C (p.Ala13Pro)
c.1156G>C (p.Ala386Pro)
c.1381G>C (p.Ala461Pro)
c.1312G>C (p.Ala438Pro)
11g.66850261C>TCA381492377PCc.2677G>A (p.Ala893Thr)
n.290-196G>A
c.*686G>A (n.*686G>A)
c.*1153G>A (n.*1153G>A)
c.37G>A (p.Ala13Thr)
c.1156G>A (p.Ala386Thr)
c.1381G>A (p.Ala461Thr)
c.1312G>A (p.Ala438Thr)
11g.66850261_66850264delinsCCTTCA1979879313PCc.2674_2677delinsAAGG (p.Lys892=)
n.290-199_290-196delinsAAGG
c.*683_*686delinsAAGG (n.*683_*686delinsAAGG)
c.*1150_*1153delinsAAGG (n.*1150_*1153delinsAAGG)
c.34_37delinsAAGG (p.Lys12=)
c.1153_1156delinsAAGG (p.Lys385=)
c.1378_1381delinsAAGG (p.Lys460=)
c.1309_1312delinsAAGG (p.Lys437=)
11g.66850262C>ACA381492378PCc.2676G>T (p.Lys892Asn)
n.290-197G>T
c.*685G>T (n.*685G>T)
c.*1152G>T (n.*1152G>T)
c.36G>T (p.Lys12Asn)
c.1155G>T (p.Lys385Asn)
c.1380G>T (p.Lys460Asn)
c.1311G>T (p.Lys437Asn)
11g.66850262C>GCA381492379PCc.2676G>C (p.Lys892Asn)
n.290-197G>C
c.*685G>C (n.*685G>C)
c.*1152G>C (n.*1152G>C)
c.36G>C (p.Lys12Asn)
c.1155G>C (p.Lys385Asn)
c.1380G>C (p.Lys460Asn)
c.1311G>C (p.Lys437Asn)
11g.66850262C>TCA475501318PCc.2676G>A (p.Lys892=)
n.290-197G>A
c.*685G>A (n.*685G>A)
c.*1152G>A (n.*1152G>A)
c.36G>A (p.Lys12=)
c.1155G>A (p.Lys385=)
c.1380G>A (p.Lys460=)
c.1311G>A (p.Lys437=)
gnomAD v4
11g.66850265_66850267delCA1979879318PCc.2674_2676del (p.Lys892del)
n.290-199_290-197del
c.*683_*685del (n.*683_*685del)
c.*1150_*1152del (n.*1150_*1152del)
c.34_36del (p.Lys12del)
c.1153_1155del (p.Lys385del)
c.1378_1380del (p.Lys460del)
c.1309_1311del (p.Lys437del)
dbSNP
11g.66850263T>ACA381492380PCc.2675A>T (p.Lys892Met)
n.290-198A>T
c.*684A>T (n.*684A>T)
c.*1151A>T (n.*1151A>T)
c.35A>T (p.Lys12Met)
c.1154A>T (p.Lys385Met)
c.1379A>T (p.Lys460Met)
c.1310A>T (p.Lys437Met)
11g.66850263T>CCA381492381PCc.2675A>G (p.Lys892Arg)
n.290-198A>G
c.*684A>G (n.*684A>G)
c.*1151A>G (n.*1151A>G)
c.35A>G (p.Lys12Arg)
c.1154A>G (p.Lys385Arg)
c.1379A>G (p.Lys460Arg)
c.1310A>G (p.Lys437Arg)
11g.66850263T>GCA6131019PCc.2675A>C (p.Lys892Thr)
n.290-198A>C
c.*684A>C (n.*684A>C)
c.*1151A>C (n.*1151A>C)
c.35A>C (p.Lys12Thr)
c.1154A>C (p.Lys385Thr)
c.1379A>C (p.Lys460Thr)
c.1310A>C (p.Lys437Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850263T=CA1979879320PCc.2675A= (p.Lys892=)
n.290-198A=
c.*684A= (n.*684A=)
c.*1151A= (n.*1151A=)
c.35A= (p.Lys12=)
c.1154A= (p.Lys385=)
c.1379A= (p.Lys460=)
c.1310A= (p.Lys437=)
11g.66850264T>ACA381492382PCc.2674A>T (p.Lys892Ter)
n.290-199A>T
c.*683A>T (n.*683A>T)
c.*1150A>T (n.*1150A>T)
c.34A>T (p.Lys12Ter)
c.1153A>T (p.Lys385Ter)
c.1378A>T (p.Lys460Ter)
c.1309A>T (p.Lys437Ter)
ClinVar
11g.66850264T>CCA6131020PCc.2674A>G (p.Lys892Glu)
n.290-199A>G
c.*683A>G (n.*683A>G)
c.*1150A>G (n.*1150A>G)
c.34A>G (p.Lys12Glu)
c.1153A>G (p.Lys385Glu)
c.1378A>G (p.Lys460Glu)
c.1309A>G (p.Lys437Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850264T>GCA381492383PCc.2674A>C (p.Lys892Gln)
n.290-199A>C
c.*683A>C (n.*683A>C)
c.*1150A>C (n.*1150A>C)
c.34A>C (p.Lys12Gln)
c.1153A>C (p.Lys385Gln)
c.1378A>C (p.Lys460Gln)
c.1309A>C (p.Lys437Gln)
11g.66850264T=CA1979879323PCc.2674A= (p.Lys892=)
n.290-199A=
c.*683A= (n.*683A=)
c.*1150A= (n.*1150A=)
c.34A= (p.Lys12=)
c.1153A= (p.Lys385=)
c.1378A= (p.Lys460=)
c.1309A= (p.Lys437=)
11g.66850265C>ACA381492384PCc.2673G>T (p.Lys891Asn)
n.290-200G>T
c.*682G>T (n.*682G>T)
c.*1149G>T (n.*1149G>T)
c.33G>T (p.Lys11Asn)
c.1152G>T (p.Lys384Asn)
c.1377G>T (p.Lys459Asn)
c.1308G>T (p.Lys436Asn)
11g.66850265C>GCA381492386PCc.2673G>C (p.Lys891Asn)
n.290-200G>C
c.*682G>C (n.*682G>C)
c.*1149G>C (n.*1149G>C)
c.33G>C (p.Lys11Asn)
c.1152G>C (p.Lys384Asn)
c.1377G>C (p.Lys459Asn)
c.1308G>C (p.Lys436Asn)
11g.66850265C>TCA475501320PCc.2673G>A (p.Lys891=)
n.290-200G>A
c.*682G>A (n.*682G>A)
c.*1149G>A (n.*1149G>A)
c.33G>A (p.Lys11=)
c.1152G>A (p.Lys384=)
c.1377G>A (p.Lys459=)
c.1308G>A (p.Lys436=)
gnomAD v4
11g.66850266T>ACA381492389PCc.2672A>T (p.Lys891Met)
n.290-201A>T
c.*681A>T (n.*681A>T)
c.*1148A>T (n.*1148A>T)
c.32A>T (p.Lys11Met)
c.1151A>T (p.Lys384Met)
c.1376A>T (p.Lys459Met)
c.1307A>T (p.Lys436Met)
11g.66850266T>CCA381492390PCc.2672A>G (p.Lys891Arg)
n.290-201A>G
c.*681A>G (n.*681A>G)
c.*1148A>G (n.*1148A>G)
c.32A>G (p.Lys11Arg)
c.1151A>G (p.Lys384Arg)
c.1376A>G (p.Lys459Arg)
c.1307A>G (p.Lys436Arg)
11g.66850266T>GCA381492387PCc.2672A>C (p.Lys891Thr)
n.290-201A>C
c.*681A>C (n.*681A>C)
c.*1148A>C (n.*1148A>C)
c.32A>C (p.Lys11Thr)
c.1151A>C (p.Lys384Thr)
c.1376A>C (p.Lys459Thr)
c.1307A>C (p.Lys436Thr)
11g.66850267T>ACA381492392PCc.2671A>T (p.Lys891Ter)
n.290-202A>T
c.*680A>T (n.*680A>T)
c.*1147A>T (n.*1147A>T)
c.31A>T (p.Lys11Ter)
c.1150A>T (p.Lys384Ter)
c.1375A>T (p.Lys459Ter)
c.1306A>T (p.Lys436Ter)
11g.66850267T>CCA381492393PCc.2671A>G (p.Lys891Glu)
n.290-202A>G
c.*680A>G (n.*680A>G)
c.*1147A>G (n.*1147A>G)
c.31A>G (p.Lys11Glu)
c.1150A>G (p.Lys384Glu)
c.1375A>G (p.Lys459Glu)
c.1306A>G (p.Lys436Glu)
11g.66850267T>GCA381492394PCc.2671A>C (p.Lys891Gln)
n.290-202A>C
c.*680A>C (n.*680A>C)
c.*1147A>C (n.*1147A>C)
c.31A>C (p.Lys11Gln)
c.1150A>C (p.Lys384Gln)
c.1375A>C (p.Lys459Gln)
c.1306A>C (p.Lys436Gln)
dbSNP gnomAD v3 gnomAD v4
11g.66850267T=CA1979879327PCc.2671A= (p.Lys891=)
n.290-202A=
c.*680A= (n.*680A=)
c.*1147A= (n.*1147A=)
c.31A= (p.Lys11=)
c.1150A= (p.Lys384=)
c.1375A= (p.Lys459=)
c.1306A= (p.Lys436=)
11g.66850268G>ACA475501323PCc.2670C>T (p.Val890=)
n.290-203C>T
c.*679C>T (n.*679C>T)
c.*1146C>T (n.*1146C>T)
c.30C>T (p.Val10=)
c.1149C>T (p.Val383=)
c.1374C>T (p.Val458=)
c.1305C>T (p.Val435=)
11g.66850268G>CCA475501324PCc.2670C>G (p.Val890=)
n.290-203C>G
c.*679C>G (n.*679C>G)
c.*1146C>G (n.*1146C>G)
c.30C>G (p.Val10=)
c.1149C>G (p.Val383=)
c.1374C>G (p.Val458=)
c.1305C>G (p.Val435=)
11g.66850268G>TCA475501325PCc.2670C>A (p.Val890=)
n.290-203C>A
c.*679C>A (n.*679C>A)
c.*1146C>A (n.*1146C>A)
c.30C>A (p.Val10=)
c.1149C>A (p.Val383=)
c.1374C>A (p.Val458=)
c.1305C>A (p.Val435=)
11g.66850269A>CCA381492396PCc.2669T>G (p.Val890Gly)
n.290-204T>G
c.*678T>G (n.*678T>G)
c.*1145T>G (n.*1145T>G)
c.29T>G (p.Val10Gly)
c.1148T>G (p.Val383Gly)
c.1373T>G (p.Val458Gly)
c.1304T>G (p.Val435Gly)
11g.66850269A>GCA381492397PCc.2669T>C (p.Val890Ala)
n.290-204T>C
c.*678T>C (n.*678T>C)
c.*1145T>C (n.*1145T>C)
c.29T>C (p.Val10Ala)
c.1148T>C (p.Val383Ala)
c.1373T>C (p.Val458Ala)
c.1304T>C (p.Val435Ala)
11g.66850269A>TCA381492398PCc.2669T>A (p.Val890Asp)
n.290-204T>A
c.*678T>A (n.*678T>A)
c.*1145T>A (n.*1145T>A)
c.29T>A (p.Val10Asp)
c.1148T>A (p.Val383Asp)
c.1373T>A (p.Val458Asp)
c.1304T>A (p.Val435Asp)
dbSNP
11g.66850270C>ACA381492401PCc.2668G>T (p.Val890Phe)
n.290-205G>T
c.*677G>T (n.*677G>T)
c.*1144G>T (n.*1144G>T)
c.28G>T (p.Val10Phe)
c.1147G>T (p.Val383Phe)
c.1372G>T (p.Val458Phe)
c.1303G>T (p.Val435Phe)
ClinVar dbSNP
11g.66850270C=CA1979879332PCc.2668G= (p.Val890=)
n.290-205G=
c.*677G= (n.*677G=)
c.*1144G= (n.*1144G=)
c.28G= (p.Val10=)
c.1147G= (p.Val383=)
c.1372G= (p.Val458=)
c.1303G= (p.Val435=)
11g.66850270C>GCA381492399PCc.2668G>C (p.Val890Leu)
n.290-205G>C
c.*677G>C (n.*677G>C)
c.*1144G>C (n.*1144G>C)
c.28G>C (p.Val10Leu)
c.1147G>C (p.Val383Leu)
c.1372G>C (p.Val458Leu)
c.1303G>C (p.Val435Leu)
11g.66850270C>TCA381492400PCc.2668G>A (p.Val890Ile)
n.290-205G>A
c.*677G>A (n.*677G>A)
c.*1144G>A (n.*1144G>A)
c.28G>A (p.Val10Ile)
c.1147G>A (p.Val383Ile)
c.1372G>A (p.Val458Ile)
c.1303G>A (p.Val435Ile)
dbSNP gnomAD v4
11g.66850273_66850275delCA2574890787PCc.2666_2668del (p.Glu889del)
n.290-207_290-205del
c.*675_*677del (n.*675_*677del)
c.*1142_*1144del (n.*1142_*1144del)
c.26_28del (p.Glu9del)
c.1145_1147del (p.Glu382del)
c.1370_1372del (p.Glu457del)
c.1301_1303del (p.Glu434del)
11g.66850271C>ACA381492403PCc.2667G>T (p.Glu889Asp)
n.290-206G>T
c.*676G>T (n.*676G>T)
c.*1143G>T (n.*1143G>T)
c.27G>T (p.Glu9Asp)
c.1146G>T (p.Glu382Asp)
c.1371G>T (p.Glu457Asp)
c.1302G>T (p.Glu434Asp)
11g.66850271C=CA1979879338PCc.2667G= (p.Glu889=)
n.290-206G=
c.*676G= (n.*676G=)
c.*1143G= (n.*1143G=)
c.27G= (p.Glu9=)
c.1146G= (p.Glu382=)
c.1371G= (p.Glu457=)
c.1302G= (p.Glu434=)
11g.66850271C>GCA224122526PCc.2667G>C (p.Glu889Asp)
n.290-206G>C
c.*676G>C (n.*676G>C)
c.*1143G>C (n.*1143G>C)
c.27G>C (p.Glu9Asp)
c.1146G>C (p.Glu382Asp)
c.1371G>C (p.Glu457Asp)
c.1302G>C (p.Glu434Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.66850271C>TCA475501327PCc.2667G>A (p.Glu889=)
n.290-206G>A
c.*676G>A (n.*676G>A)
c.*1143G>A (n.*1143G>A)
c.27G>A (p.Glu9=)
c.1146G>A (p.Glu382=)
c.1371G>A (p.Glu457=)
c.1302G>A (p.Glu434=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66850272T>ACA381492404PCc.2666A>T (p.Glu889Val)
n.290-207A>T
c.*675A>T (n.*675A>T)
c.*1142A>T (n.*1142A>T)
c.26A>T (p.Glu9Val)
c.1145A>T (p.Glu382Val)
c.1370A>T (p.Glu457Val)
c.1301A>T (p.Glu434Val)
gnomAD v4
11g.66850272T>CCA381492406PCc.2666A>G (p.Glu889Gly)
n.290-207A>G
c.*675A>G (n.*675A>G)
c.*1142A>G (n.*1142A>G)
c.26A>G (p.Glu9Gly)
c.1145A>G (p.Glu382Gly)
c.1370A>G (p.Glu457Gly)
c.1301A>G (p.Glu434Gly)
11g.66850272T>GCA381492408PCc.2666A>C (p.Glu889Ala)
n.290-207A>C
c.*675A>C (n.*675A>C)
c.*1142A>C (n.*1142A>C)
c.26A>C (p.Glu9Ala)
c.1145A>C (p.Glu382Ala)
c.1370A>C (p.Glu457Ala)
c.1301A>C (p.Glu434Ala)
gnomAD v4
11g.66850273C>ACA381492411PCc.2665G>T (p.Glu889Ter)
n.290-208G>T
c.*674G>T (n.*674G>T)
c.*1141G>T (n.*1141G>T)
c.25G>T (p.Glu9Ter)
c.1144G>T (p.Glu382Ter)
c.1369G>T (p.Glu457Ter)
c.1300G>T (p.Glu434Ter)
11g.66850273C=CA1979879342PCc.2665G= (p.Glu889=)
n.290-208G=
c.*674G= (n.*674G=)
c.*1141G= (n.*1141G=)
c.25G= (p.Glu9=)
c.1144G= (p.Glu382=)
c.1369G= (p.Glu457=)
c.1300G= (p.Glu434=)
11g.66850273C>GCA381492409PCc.2665G>C (p.Glu889Gln)
n.290-208G>C
c.*674G>C (n.*674G>C)
c.*1141G>C (n.*1141G>C)
c.25G>C (p.Glu9Gln)
c.1144G>C (p.Glu382Gln)
c.1369G>C (p.Glu457Gln)
c.1300G>C (p.Glu434Gln)
gnomAD v4
11g.66850273C>TCA381492410PCc.2665G>A (p.Glu889Lys)
n.290-208G>A
c.*674G>A (n.*674G>A)
c.*1141G>A (n.*1141G>A)
c.25G>A (p.Glu9Lys)
c.1144G>A (p.Glu382Lys)
c.1369G>A (p.Glu457Lys)
c.1300G>A (p.Glu434Lys)
dbSNP
11g.66850274C>ACA381492413PCc.2664G>T (p.Lys888Asn)
n.290-209G>T
c.*673G>T (n.*673G>T)
c.*1140G>T (n.*1140G>T)
c.24G>T (p.Lys8Asn)
c.1143G>T (p.Lys381Asn)
c.1368G>T (p.Lys456Asn)
c.1299G>T (p.Lys433Asn)
11g.66850274C>GCA381492415PCc.2664G>C (p.Lys888Asn)
n.290-209G>C
c.*673G>C (n.*673G>C)
c.*1140G>C (n.*1140G>C)
c.24G>C (p.Lys8Asn)
c.1143G>C (p.Lys381Asn)
c.1368G>C (p.Lys456Asn)
c.1299G>C (p.Lys433Asn)
11g.66850274C>TCA475501331PCc.2664G>A (p.Lys888=)
n.290-209G>A
c.*673G>A (n.*673G>A)
c.*1140G>A (n.*1140G>A)
c.24G>A (p.Lys8=)
c.1143G>A (p.Lys381=)
c.1368G>A (p.Lys456=)
c.1299G>A (p.Lys433=)
11g.66850275T>ACA381492417PCc.2663A>T (p.Lys888Met)
n.290-210A>T
c.*672A>T (n.*672A>T)
c.*1139A>T (n.*1139A>T)
c.23A>T (p.Lys8Met)
c.1142A>T (p.Lys381Met)
c.1367A>T (p.Lys456Met)
c.1298A>T (p.Lys433Met)
11g.66850275T>CCA381492418PCc.2663A>G (p.Lys888Arg)
n.290-210A>G
c.*672A>G (n.*672A>G)
c.*1139A>G (n.*1139A>G)
c.23A>G (p.Lys8Arg)
c.1142A>G (p.Lys381Arg)
c.1367A>G (p.Lys456Arg)
c.1298A>G (p.Lys433Arg)
gnomAD v4
11g.66850275T>GCA381492419PCc.2663A>C (p.Lys888Thr)
n.290-210A>C
c.*672A>C (n.*672A>C)
c.*1139A>C (n.*1139A>C)
c.23A>C (p.Lys8Thr)
c.1142A>C (p.Lys381Thr)
c.1367A>C (p.Lys456Thr)
c.1298A>C (p.Lys433Thr)
11g.66850276T>ACA381492420PCc.2662A>T (p.Lys888Ter)
n.290-211A>T
c.*671A>T (n.*671A>T)
c.*1138A>T (n.*1138A>T)
c.22A>T (p.Lys8Ter)
c.1141A>T (p.Lys381Ter)
c.1366A>T (p.Lys456Ter)
c.1297A>T (p.Lys433Ter)
11g.66850276T>CCA381492421PCc.2662A>G (p.Lys888Glu)
n.290-211A>G
c.*671A>G (n.*671A>G)
c.*1138A>G (n.*1138A>G)
c.22A>G (p.Lys8Glu)
c.1141A>G (p.Lys381Glu)
c.1366A>G (p.Lys456Glu)
c.1297A>G (p.Lys433Glu)
gnomAD v4
11g.66850276T>GCA381492422PCc.2662A>C (p.Lys888Gln)
n.290-211A>C
c.*671A>C (n.*671A>C)
c.*1138A>C (n.*1138A>C)
c.22A>C (p.Lys8Gln)
c.1141A>C (p.Lys381Gln)
c.1366A>C (p.Lys456Gln)
c.1297A>C (p.Lys433Gln)
11g.66850277G>ACA475501334PCc.2661C>T (p.Phe887=)
n.290-212C>T
c.*670C>T (n.*670C>T)
c.*1137C>T (n.*1137C>T)
c.21C>T (p.Phe7=)
c.1140C>T (p.Phe380=)
c.1365C>T (p.Phe455=)
c.1296C>T (p.Phe432=)
ClinVar
11g.66850277G>CCA381492424PCc.2661C>G (p.Phe887Leu)
n.290-212C>G
c.*670C>G (n.*670C>G)
c.*1137C>G (n.*1137C>G)
c.21C>G (p.Phe7Leu)
c.1140C>G (p.Phe380Leu)
c.1365C>G (p.Phe455Leu)
c.1296C>G (p.Phe432Leu)
gnomAD v4
11g.66850277G>TCA381492425PCc.2661C>A (p.Phe887Leu)
n.290-212C>A
c.*670C>A (n.*670C>A)
c.*1137C>A (n.*1137C>A)
c.21C>A (p.Phe7Leu)
c.1140C>A (p.Phe380Leu)
c.1365C>A (p.Phe455Leu)
c.1296C>A (p.Phe432Leu)
11g.66850278A>CCA381492426PCc.2660T>G (p.Phe887Cys)
n.290-213T>G
c.*669T>G (n.*669T>G)
c.*1136T>G (n.*1136T>G)
c.20T>G (p.Phe7Cys)
c.1139T>G (p.Phe380Cys)
c.1364T>G (p.Phe455Cys)
c.1295T>G (p.Phe432Cys)
11g.66850278A>GCA381492427PCc.2660T>C (p.Phe887Ser)
n.290-213T>C
c.*669T>C (n.*669T>C)
c.*1136T>C (n.*1136T>C)
c.20T>C (p.Phe7Ser)
c.1139T>C (p.Phe380Ser)
c.1364T>C (p.Phe455Ser)
c.1295T>C (p.Phe432Ser)
11g.66850278A>TCA381492428PCc.2660T>A (p.Phe887Tyr)
n.290-213T>A
c.*669T>A (n.*669T>A)
c.*1136T>A (n.*1136T>A)
c.20T>A (p.Phe7Tyr)
c.1139T>A (p.Phe380Tyr)
c.1364T>A (p.Phe455Tyr)
c.1295T>A (p.Phe432Tyr)
11g.66850279A>CCA381492434PCc.2659T>G (p.Phe887Val)
n.290-214T>G
c.*668T>G (n.*668T>G)
c.*1135T>G (n.*1135T>G)
c.19T>G (p.Phe7Val)
c.1138T>G (p.Phe380Val)
c.1363T>G (p.Phe455Val)
c.1294T>G (p.Phe432Val)
11g.66850279A>GCA381492430PCc.2659T>C (p.Phe887Leu)
n.290-214T>C
c.*668T>C (n.*668T>C)
c.*1135T>C (n.*1135T>C)
c.19T>C (p.Phe7Leu)
c.1138T>C (p.Phe380Leu)
c.1363T>C (p.Phe455Leu)
c.1294T>C (p.Phe432Leu)
11g.66850279A>TCA381492432PCc.2659T>A (p.Phe887Ile)
n.290-214T>A
c.*668T>A (n.*668T>A)
c.*1135T>A (n.*1135T>A)
c.19T>A (p.Phe7Ile)
c.1138T>A (p.Phe380Ile)
c.1363T>A (p.Phe455Ile)
c.1294T>A (p.Phe432Ile)
11g.66850280delCA2614541581PCc.2658del (p.Lys886AsnfsTer22)
n.290-215del
c.*667del (n.*667del)
c.*1134del (n.*1134del)
c.18del (p.Lys6AsnfsTer22)
c.1137del (p.Lys379AsnfsTer22)
c.1362del (p.Lys454AsnfsTer22)
c.1293del (p.Lys431AsnfsTer22)
gnomAD v4
11g.66850280C>ACA381492435PCc.2658G>T (p.Lys886Asn)
n.290-215G>T
c.*667G>T (n.*667G>T)
c.*1134G>T (n.*1134G>T)
c.18G>T (p.Lys6Asn)
c.1137G>T (p.Lys379Asn)
c.1362G>T (p.Lys454Asn)
c.1293G>T (p.Lys431Asn)
11g.66850280C>GCA381492436PCc.2658G>C (p.Lys886Asn)
n.290-215G>C
c.*667G>C (n.*667G>C)
c.*1134G>C (n.*1134G>C)
c.18G>C (p.Lys6Asn)
c.1137G>C (p.Lys379Asn)
c.1362G>C (p.Lys454Asn)
c.1293G>C (p.Lys431Asn)
11g.66850280C>TCA475501335PCc.2658G>A (p.Lys886=)
n.290-215G>A
c.*667G>A (n.*667G>A)
c.*1134G>A (n.*1134G>A)
c.18G>A (p.Lys6=)
c.1137G>A (p.Lys379=)
c.1362G>A (p.Lys454=)
c.1293G>A (p.Lys431=)
11g.66850281T>ACA381492439PCc.2657A>T (p.Lys886Met)
n.290-216A>T
c.*666A>T (n.*666A>T)
c.*1133A>T (n.*1133A>T)
c.17A>T (p.Lys6Met)
c.1136A>T (p.Lys379Met)
c.1361A>T (p.Lys454Met)
c.1292A>T (p.Lys431Met)
11g.66850281T>CCA312863PCc.2657A>G (p.Lys886Arg)
n.290-216A>G
c.*666A>G (n.*666A>G)
c.*1133A>G (n.*1133A>G)
c.17A>G (p.Lys6Arg)
c.1136A>G (p.Lys379Arg)
c.1361A>G (p.Lys454Arg)
c.1292A>G (p.Lys431Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66850281T>GCA381492441PCc.2657A>C (p.Lys886Thr)
n.290-216A>C
c.*666A>C (n.*666A>C)
c.*1133A>C (n.*1133A>C)
c.17A>C (p.Lys6Thr)
c.1136A>C (p.Lys379Thr)
c.1361A>C (p.Lys454Thr)
c.1292A>C (p.Lys431Thr)
COSMIC
11g.66850281T=CA1979879346PCc.2657A= (p.Lys886=)
n.290-216A=
c.*666A= (n.*666A=)
c.*1133A= (n.*1133A=)
c.17A= (p.Lys6=)
c.1136A= (p.Lys379=)
c.1361A= (p.Lys454=)
c.1292A= (p.Lys431=)
11g.66850282T>ACA381492442PCc.2656A>T (p.Lys886Ter)
n.290-217A>T
c.*665A>T (n.*665A>T)
c.*1132A>T (n.*1132A>T)
c.16A>T (p.Lys6Ter)
c.1135A>T (p.Lys379Ter)
c.1360A>T (p.Lys454Ter)
c.1291A>T (p.Lys431Ter)
11g.66850282T>CCA381492444PCc.2656A>G (p.Lys886Glu)
n.290-217A>G
c.*665A>G (n.*665A>G)
c.*1132A>G (n.*1132A>G)
c.16A>G (p.Lys6Glu)
c.1135A>G (p.Lys379Glu)
c.1360A>G (p.Lys454Glu)
c.1291A>G (p.Lys431Glu)
11g.66850282T>GCA381492445PCc.2656A>C (p.Lys886Gln)
n.290-217A>C
c.*665A>C (n.*665A>C)
c.*1132A>C (n.*1132A>C)
c.16A>C (p.Lys6Gln)
c.1135A>C (p.Lys379Gln)
c.1360A>C (p.Lys454Gln)
c.1291A>C (p.Lys431Gln)
11g.66850283G>ACA475500692PCc.2655C>T (p.Ser885=)
n.290-218C>T
c.*664C>T (n.*664C>T)
c.*1131C>T (n.*1131C>T)
c.15C>T (p.Ser5=)
c.1134C>T (p.Ser378=)
c.1359C>T (p.Ser453=)
c.1290C>T (p.Ser430=)
11g.66850283G>CCA475500693PCc.2655C>G (p.Ser885=)
n.290-218C>G
c.*664C>G (n.*664C>G)
c.*1131C>G (n.*1131C>G)
c.15C>G (p.Ser5=)
c.1134C>G (p.Ser378=)
c.1359C>G (p.Ser453=)
c.1290C>G (p.Ser430=)
11g.66850283G>TCA475500694PCc.2655C>A (p.Ser885=)
n.290-218C>A
c.*664C>A (n.*664C>A)
c.*1131C>A (n.*1131C>A)
c.15C>A (p.Ser5=)
c.1134C>A (p.Ser378=)
c.1359C>A (p.Ser453=)
c.1290C>A (p.Ser430=)
11g.66850283_66850284delCA2792479706PCc.2654_2655del (p.Ser885Ter)
n.290-219_290-218del
c.*663_*664del (n.*663_*664del)
c.*1130_*1131del (n.*1130_*1131del)
c.14_15del (p.Ser5Ter)
c.1133_1134del (p.Ser378Ter)
c.1358_1359del (p.Ser453Ter)
c.1289_1290del (p.Ser430Ter)
11g.66850284dupCA2614541584PCc.2655dup (p.Lys886GlnfsTer?)
n.290-218dup
c.*664dup (n.*664dup)
c.*1131dup (n.*1131dup)
c.15dup (p.Lys6GlnfsTer?)
c.1134dup (p.Lys379GlnfsTer?)
c.1359dup (p.Lys454GlnfsTer?)
c.1290dup (p.Lys431GlnfsTer?)
gnomAD v4
11g.66850284G>ACA381492446PCc.2654C>T (p.Ser885Phe)
n.290-219C>T
c.*663C>T (n.*663C>T)
c.*1130C>T (n.*1130C>T)
c.14C>T (p.Ser5Phe)
c.1133C>T (p.Ser378Phe)
c.1358C>T (p.Ser453Phe)
c.1289C>T (p.Ser430Phe)
dbSNP gnomAD v4
11g.66850284G>CCA6131021PCc.2654C>G (p.Ser885Cys)
n.290-219C>G
c.*663C>G (n.*663C>G)
c.*1130C>G (n.*1130C>G)
c.14C>G (p.Ser5Cys)
c.1133C>G (p.Ser378Cys)
c.1358C>G (p.Ser453Cys)
c.1289C>G (p.Ser430Cys)
dbSNP ExAC
11g.66850284G=CA1979879351PCc.2654C= (p.Ser885=)
n.290-219C=
c.*663C= (n.*663C=)
c.*1130C= (n.*1130C=)
c.14C= (p.Ser5=)
c.1133C= (p.Ser378=)
c.1358C= (p.Ser453=)
c.1289C= (p.Ser430=)
11g.66850284G>TCA381492447PCc.2654C>A (p.Ser885Tyr)
n.290-219C>A
c.*663C>A (n.*663C>A)
c.*1130C>A (n.*1130C>A)
c.14C>A (p.Ser5Tyr)
c.1133C>A (p.Ser378Tyr)
c.1358C>A (p.Ser453Tyr)
c.1289C>A (p.Ser430Tyr)
11g.66850285A=CA1979879355PCc.2653T= (p.Ser885=)
n.290-220T=
c.*662T= (n.*662T=)
c.*1129T= (n.*1129T=)
c.13T= (p.Ser5=)
c.1132T= (p.Ser378=)
c.1357T= (p.Ser453=)
c.1288T= (p.Ser430=)
11g.66850285A>CCA381492448PCc.2653T>G (p.Ser885Ala)
n.290-220T>G
c.*662T>G (n.*662T>G)
c.*1129T>G (n.*1129T>G)
c.13T>G (p.Ser5Ala)
c.1132T>G (p.Ser378Ala)
c.1357T>G (p.Ser453Ala)
c.1288T>G (p.Ser430Ala)
11g.66850285A>GCA381492450PCc.2653T>C (p.Ser885Pro)
n.290-220T>C
c.*662T>C (n.*662T>C)
c.*1129T>C (n.*1129T>C)
c.13T>C (p.Ser5Pro)
c.1132T>C (p.Ser378Pro)
c.1357T>C (p.Ser453Pro)
c.1288T>C (p.Ser430Pro)
dbSNP gnomAD v2 gnomAD v4
11g.66850285A>TCA381492452PCc.2653T>A (p.Ser885Thr)
n.290-220T>A
c.*662T>A (n.*662T>A)
c.*1129T>A (n.*1129T>A)
c.13T>A (p.Ser5Thr)
c.1132T>A (p.Ser378Thr)
c.1357T>A (p.Ser453Thr)
c.1288T>A (p.Ser430Thr)
11g.66850285_66850286insTCA2792479709PCc.2652_2653insA (p.Ser885IlefsTer?)
n.290-221_290-220insA
c.*661_*662insA (n.*661_*662insA)
c.*1128_*1129insA (n.*1128_*1129insA)
c.12_13insA (p.Ser5IlefsTer?)
c.1131_1132insA (p.Ser378IlefsTer?)
c.1356_1357insA (p.Ser453IlefsTer?)
c.1287_1288insA (p.Ser430IlefsTer?)
11g.66850286G>ACA6131022PCc.2652C>T (p.Gly884=)
n.290-221C>T
c.*661C>T (n.*661C>T)
c.*1128C>T (n.*1128C>T)
c.12C>T (p.Gly4=)
c.1131C>T (p.Gly377=)
c.1356C>T (p.Gly452=)
c.1287C>T (p.Gly429=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66850286G>CCA475500698PCc.2652C>G (p.Gly884=)
n.290-221C>G
c.*661C>G (n.*661C>G)
c.*1128C>G (n.*1128C>G)
c.12C>G (p.Gly4=)
c.1131C>G (p.Gly377=)
c.1356C>G (p.Gly452=)
c.1287C>G (p.Gly429=)
11g.66850286G=CA1979879360PCc.2652C= (p.Gly884=)
n.290-221C=
c.*661C= (n.*661C=)
c.*1128C= (n.*1128C=)
c.12C= (p.Gly4=)
c.1131C= (p.Gly377=)
c.1356C= (p.Gly452=)
c.1287C= (p.Gly429=)
11g.66850286G>TCA475500697PCc.2652C>A (p.Gly884=)
n.290-221C>A
c.*661C>A (n.*661C>A)
c.*1128C>A (n.*1128C>A)
c.12C>A (p.Gly4=)
c.1131C>A (p.Gly377=)
c.1356C>A (p.Gly452=)
c.1287C>A (p.Gly429=)
11g.66850287C>ACA381492454PCc.2651G>T (p.Gly884Val)
n.290-222G>T
c.*660G>T (n.*660G>T)
c.*1127G>T (n.*1127G>T)
c.11G>T (p.Gly4Val)
c.1130G>T (p.Gly377Val)
c.1355G>T (p.Gly452Val)
c.1286G>T (p.Gly429Val)
11g.66850287C=CA1979879371PCc.2651G= (p.Gly884=)
n.290-222G=
c.*660G= (n.*660G=)
c.*1127G= (n.*1127G=)
c.11G= (p.Gly4=)
c.1130G= (p.Gly377=)
c.1355G= (p.Gly452=)
c.1286G= (p.Gly429=)
11g.66850287C>GCA381492456PCc.2651G>C (p.Gly884Ala)
n.290-222G>C
c.*660G>C (n.*660G>C)
c.*1127G>C (n.*1127G>C)
c.11G>C (p.Gly4Ala)
c.1130G>C (p.Gly377Ala)
c.1355G>C (p.Gly452Ala)
c.1286G>C (p.Gly429Ala)
dbSNP gnomAD v2 gnomAD v4
11g.66850287C>TCA381492458PCc.2651G>A (p.Gly884Asp)
n.290-222G>A
c.*660G>A (n.*660G>A)
c.*1127G>A (n.*1127G>A)
c.11G>A (p.Gly4Asp)
c.1130G>A (p.Gly377Asp)
c.1355G>A (p.Gly452Asp)
c.1286G>A (p.Gly429Asp)
dbSNP COSMIC
11g.66850288dupCA2792479710PCc.2651dup (p.Ser885LeufsTer?)
n.290-222dup
c.*660dup (n.*660dup)
c.*1127dup (n.*1127dup)
c.11dup (p.Ser5LeufsTer?)
c.1130dup (p.Ser378LeufsTer?)
c.1355dup (p.Ser453LeufsTer?)
c.1286dup (p.Ser430LeufsTer?)
11g.66850288C>ACA381492461PCc.2650G>T (p.Gly884Cys)
n.290-223G>T
c.*659G>T (n.*659G>T)
c.*1126G>T (n.*1126G>T)
c.10G>T (p.Gly4Cys)
c.1129G>T (p.Gly377Cys)
c.1354G>T (p.Gly452Cys)
c.1285G>T (p.Gly429Cys)
11g.66850288C>GCA381492466PCc.2650G>C (p.Gly884Arg)
n.290-223G>C
c.*659G>C (n.*659G>C)
c.*1126G>C (n.*1126G>C)
c.10G>C (p.Gly4Arg)
c.1129G>C (p.Gly377Arg)
c.1354G>C (p.Gly452Arg)
c.1285G>C (p.Gly429Arg)
11g.66850288C>TCA381492468PCc.2650G>A (p.Gly884Ser)
n.290-223G>A
c.*659G>A (n.*659G>A)
c.*1126G>A (n.*1126G>A)
c.10G>A (p.Gly4Ser)
c.1129G>A (p.Gly377Ser)
c.1354G>A (p.Gly452Ser)
c.1285G>A (p.Gly429Ser)
11g.66850288_66850289delinsCACA1979879373PCc.2649_2650delinsTG (p.Leu883=)
n.290-224_290-223delinsTG
c.*658_*659delinsTG (n.*658_*659delinsTG)
c.*1125_*1126delinsTG (n.*1125_*1126delinsTG)
c.9_10delinsTG (p.Leu3=)
c.1128_1129delinsTG (p.Leu376=)
c.1353_1354delinsTG (p.Leu451=)
c.1284_1285delinsTG (p.Leu428=)
11g.66850289A=CA1979879378PCc.2649T= (p.Leu883=)
n.290-224T=
c.*658T= (n.*658T=)
c.*1125T= (n.*1125T=)
c.9T= (p.Leu3=)
c.1128T= (p.Leu376=)
c.1353T= (p.Leu451=)
c.1284T= (p.Leu428=)
11g.66850289A>CCA475500702PCc.2649T>G (p.Leu883=)
n.290-224T>G
c.*658T>G (n.*658T>G)
c.*1125T>G (n.*1125T>G)
c.9T>G (p.Leu3=)
c.1128T>G (p.Leu376=)
c.1353T>G (p.Leu451=)
c.1284T>G (p.Leu428=)
11g.66850289A>GCA475500703PCc.2649T>C (p.Leu883=)
n.290-224T>C
c.*658T>C (n.*658T>C)
c.*1125T>C (n.*1125T>C)
c.9T>C (p.Leu3=)
c.1128T>C (p.Leu376=)
c.1353T>C (p.Leu451=)
c.1284T>C (p.Leu428=)
dbSNP
11g.66850289A>TCA475500704PCc.2649T>A (p.Leu883=)
n.290-224T>A
c.*658T>A (n.*658T>A)
c.*1125T>A (n.*1125T>A)
c.9T>A (p.Leu3=)
c.1128T>A (p.Leu376=)
c.1353T>A (p.Leu451=)
c.1284T>A (p.Leu428=)
11g.66850290delCA224122557PCc.2649del (p.Gly884AlafsTer24)
n.290-224del
c.*658del (n.*658del)
c.*1125del (n.*1125del)
c.9del (p.Gly4AlafsTer24)
c.1128del (p.Gly377AlafsTer24)
c.1353del (p.Gly452AlafsTer24)
c.1284del (p.Gly429AlafsTer24)
dbSNP
11g.66850290A=CA1979879381PCc.2648T= (p.Leu883=)
n.290-225T=
c.*657T= (n.*657T=)
c.*1124T= (n.*1124T=)
c.8T= (p.Leu3=)
c.1127T= (p.Leu376=)
c.1352T= (p.Leu451=)
c.1283T= (p.Leu428=)
11g.66850290A>CCA381492471PCc.2648T>G (p.Leu883Arg)
n.290-225T>G
c.*657T>G (n.*657T>G)
c.*1124T>G (n.*1124T>G)
c.8T>G (p.Leu3Arg)
c.1127T>G (p.Leu376Arg)
c.1352T>G (p.Leu451Arg)
c.1283T>G (p.Leu428Arg)
11g.66850290A>GCA6131023PCc.2648T>C (p.Leu883Pro)
n.290-225T>C
c.*657T>C (n.*657T>C)
c.*1124T>C (n.*1124T>C)
c.8T>C (p.Leu3Pro)
c.1127T>C (p.Leu376Pro)
c.1352T>C (p.Leu451Pro)
c.1283T>C (p.Leu428Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850290A>TCA381492473PCc.2648T>A (p.Leu883His)
n.290-225T>A
c.*657T>A (n.*657T>A)
c.*1124T>A (n.*1124T>A)
c.8T>A (p.Leu3His)
c.1127T>A (p.Leu376His)
c.1352T>A (p.Leu451His)
c.1283T>A (p.Leu428His)
11g.66850291G>ACA381492475PCc.2647C>T (p.Leu883Phe)
n.290-226C>T
c.*656C>T (n.*656C>T)
c.*1123C>T (n.*1123C>T)
c.7C>T (p.Leu3Phe)
c.1126C>T (p.Leu376Phe)
c.1351C>T (p.Leu451Phe)
c.1282C>T (p.Leu428Phe)
COSMIC
11g.66850291G>CCA381492477PCc.2647C>G (p.Leu883Val)
n.290-226C>G
c.*656C>G (n.*656C>G)
c.*1123C>G (n.*1123C>G)
c.7C>G (p.Leu3Val)
c.1126C>G (p.Leu376Val)
c.1351C>G (p.Leu451Val)
c.1282C>G (p.Leu428Val)
11g.66850291G>TCA381492478PCc.2647C>A (p.Leu883Ile)
n.290-226C>A
c.*656C>A (n.*656C>A)
c.*1123C>A (n.*1123C>A)
c.7C>A (p.Leu3Ile)
c.1126C>A (p.Leu376Ile)
c.1351C>A (p.Leu451Ile)
c.1282C>A (p.Leu428Ile)
11g.66850292C>ACA475500707PCc.2646G>T (p.Gly882=)
n.290-227G>T
c.*655G>T (n.*655G>T)
c.*1122G>T (n.*1122G>T)
c.6G>T (p.Gly2=)
c.1125G>T (p.Gly375=)
c.1350G>T (p.Gly450=)
c.1281G>T (p.Gly427=)
gnomAD v4
11g.66850292C>GCA475500705PCc.2646G>C (p.Gly882=)
n.290-227G>C
c.*655G>C (n.*655G>C)
c.*1122G>C (n.*1122G>C)
c.6G>C (p.Gly2=)
c.1125G>C (p.Gly375=)
c.1350G>C (p.Gly450=)
c.1281G>C (p.Gly427=)
11g.66850292C>TCA475500706PCc.2646G>A (p.Gly882=)
n.290-227G>A
c.*655G>A (n.*655G>A)
c.*1122G>A (n.*1122G>A)
c.6G>A (p.Gly2=)
c.1125G>A (p.Gly375=)
c.1350G>A (p.Gly450=)
c.1281G>A (p.Gly427=)
ClinVar dbSNP
11g.66850293C>ACA381492479PCc.2645G>T (p.Gly882Val)
n.290-228G>T
c.*654G>T (n.*654G>T)
c.*1121G>T (n.*1121G>T)
c.5G>T (p.Gly2Val)
c.1124G>T (p.Gly375Val)
c.1349G>T (p.Gly450Val)
c.1280G>T (p.Gly427Val)
11g.66850293C>GCA381492483PCc.2645G>C (p.Gly882Ala)
n.290-228G>C
c.*654G>C (n.*654G>C)
c.*1121G>C (n.*1121G>C)
c.5G>C (p.Gly2Ala)
c.1124G>C (p.Gly375Ala)
c.1349G>C (p.Gly450Ala)
c.1280G>C (p.Gly427Ala)
11g.66850293C>TCA381492482PCc.2645G>A (p.Gly882Glu)
n.290-228G>A
c.*654G>A (n.*654G>A)
c.*1121G>A (n.*1121G>A)
c.5G>A (p.Gly2Glu)
c.1124G>A (p.Gly375Glu)
c.1349G>A (p.Gly450Glu)
c.1280G>A (p.Gly427Glu)
11g.66850294C>ACA381492485PCc.2644G>T (p.Gly882Trp)
n.290-229G>T
c.*653G>T (n.*653G>T)
c.*1120G>T (n.*1120G>T)
c.4G>T (p.Gly2Trp)
c.1123G>T (p.Gly375Trp)
c.1348G>T (p.Gly450Trp)
c.1279G>T (p.Gly427Trp)
11g.66850294C>GCA381492487PCc.2644G>C (p.Gly882Arg)
n.290-229G>C
c.*653G>C (n.*653G>C)
c.*1120G>C (n.*1120G>C)
c.4G>C (p.Gly2Arg)
c.1123G>C (p.Gly375Arg)
c.1348G>C (p.Gly450Arg)
c.1279G>C (p.Gly427Arg)
11g.66850294C>TCA381492488PCc.2644G>A (p.Gly882Arg)
n.290-229G>A
c.*653G>A (n.*653G>A)
c.*1120G>A (n.*1120G>A)
c.4G>A (p.Gly2Arg)
c.1123G>A (p.Gly375Arg)
c.1348G>A (p.Gly450Arg)
c.1279G>A (p.Gly427Arg)
11g.66850295C>ACA381492490PCc.2643G>T (p.Met881Ile)
n.290-230G>T
c.*652G>T (n.*652G>T)
c.*1119G>T (n.*1119G>T)
c.3G>T (p.Met1Ile)
c.1122G>T (p.Met374Ile)
c.1347G>T (p.Met449Ile)
c.1278G>T (p.Met426Ile)
11g.66850295C=CA1979879383PCc.2643G= (p.Met881=)
n.290-230G=
c.*652G= (n.*652G=)
c.*1119G= (n.*1119G=)
c.3G= (p.Met1=)
c.1122G= (p.Met374=)
c.1347G= (p.Met449=)
c.1278G= (p.Met426=)
11g.66850295C>GCA381492491PCc.2643G>C (p.Met881Ile)
n.290-230G>C
c.*652G>C (n.*652G>C)
c.*1119G>C (n.*1119G>C)
c.3G>C (p.Met1Ile)
c.1122G>C (p.Met374Ile)
c.1347G>C (p.Met449Ile)
c.1278G>C (p.Met426Ile)
dbSNP
11g.66850295C>TCA381492492PCc.2643G>A (p.Met881Ile)
n.290-230G>A
c.*652G>A (n.*652G>A)
c.*1119G>A (n.*1119G>A)
c.3G>A (p.Met1Ile)
c.1122G>A (p.Met374Ile)
c.1347G>A (p.Met449Ile)
c.1278G>A (p.Met426Ile)
gnomAD v4 COSMIC
11g.66850296A>CCA381492495PCc.2642T>G (p.Met881Arg)
n.290-231T>G
c.*651T>G (n.*651T>G)
c.*1118T>G (n.*1118T>G)
c.2T>G (p.Met1Arg)
c.1121T>G (p.Met374Arg)
c.1346T>G (p.Met449Arg)
c.1277T>G (p.Met426Arg)
11g.66850296A>GCA381492494PCc.2642T>C (p.Met881Thr)
n.290-231T>C
c.*651T>C (n.*651T>C)
c.*1118T>C (n.*1118T>C)
c.2T>C (p.Met1Thr)
c.1121T>C (p.Met374Thr)
c.1346T>C (p.Met449Thr)
c.1277T>C (p.Met426Thr)
11g.66850296A>TCA381492493PCc.2642T>A (p.Met881Lys)
n.290-231T>A
c.*651T>A (n.*651T>A)
c.*1118T>A (n.*1118T>A)
c.2T>A (p.Met1Lys)
c.1121T>A (p.Met374Lys)
c.1346T>A (p.Met449Lys)
c.1277T>A (p.Met426Lys)
11g.66850297T>ACA381492496PCc.2641A>T (p.Met881Leu)
n.290-232A>T
c.*650A>T (n.*650A>T)
c.*1117A>T (n.*1117A>T)
c.1A>T (p.Met1Leu)
c.1120A>T (p.Met374Leu)
c.1345A>T (p.Met449Leu)
c.1276A>T (p.Met426Leu)
11g.66850297T>CCA381492498PCc.2641A>G (p.Met881Val)
n.290-232A>G
c.*650A>G (n.*650A>G)
c.*1117A>G (n.*1117A>G)
c.1A>G (p.Met1Val)
c.1120A>G (p.Met374Val)
c.1345A>G (p.Met449Val)
c.1276A>G (p.Met426Val)
dbSNP gnomAD v2 gnomAD v4
11g.66850297T>GCA381492500PCc.2641A>C (p.Met881Leu)
n.290-232A>C
c.*650A>C (n.*650A>C)
c.*1117A>C (n.*1117A>C)
c.1A>C (p.Met1Leu)
c.1120A>C (p.Met374Leu)
c.1345A>C (p.Met449Leu)
c.1276A>C (p.Met426Leu)
gnomAD v4
11g.66850297T=CA1979879386PCc.2641A= (p.Met881=)
n.290-232A=
c.*650A= (n.*650A=)
c.*1117A= (n.*1117A=)
c.1A= (p.Met1=)
c.1120A= (p.Met374=)
c.1345A= (p.Met449=)
c.1276A= (p.Met426=)
11g.66850300_66850316delCA2573147599PCc.2625_2641del (p.Phe876GlyfsTer?)
n.290-248_290-232del
c.*634_*650del (n.*634_*650del)
c.*1101_*1117del (n.*1101_*1117del)
c.-16_1del (n.-16_1del)
c.1104_1120del (p.Phe369GlyfsTer?)
c.1329_1345del (p.Phe444GlyfsTer?)
c.1260_1276del (p.Phe421GlyfsTer?)
dbSNP
11g.66850298G>ACA6131024PCc.2640C>T (p.Ser880=)
n.290-233C>T
c.*649C>T (n.*649C>T)
c.*1116C>T (n.*1116C>T)
c.-1C>T (n.-1C>T)
c.1119C>T (p.Ser373=)
c.1344C>T (p.Ser448=)
c.1275C>T (p.Ser425=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.66850298G>CCA381492502PCc.2640C>G (p.Ser880Arg)
n.290-233C>G
c.*649C>G (n.*649C>G)
c.*1116C>G (n.*1116C>G)
c.-1C>G (n.-1C>G)
c.1119C>G (p.Ser373Arg)
c.1344C>G (p.Ser448Arg)
c.1275C>G (p.Ser425Arg)
11g.66850298G=CA1979879393PCc.2640C= (p.Ser880=)
n.290-233C=
c.*649C= (n.*649C=)
c.*1116C= (n.*1116C=)
c.-1C= (n.-1C=)
c.1119C= (p.Ser373=)
c.1344C= (p.Ser448=)
c.1275C= (p.Ser425=)
11g.66850298G>TCA381492503PCc.2640C>A (p.Ser880Arg)
n.290-233C>A
c.*649C>A (n.*649C>A)
c.*1116C>A (n.*1116C>A)
c.-1C>A (n.-1C>A)
c.1119C>A (p.Ser373Arg)
c.1344C>A (p.Ser448Arg)
c.1275C>A (p.Ser425Arg)
11g.66850299C>ACA381492504PCc.2639G>T (p.Ser880Ile)
n.290-234G>T
c.*648G>T (n.*648G>T)
c.*1115G>T (n.*1115G>T)
c.-2G>T (n.-2G>T)
c.1118G>T (p.Ser373Ile)
c.1343G>T (p.Ser448Ile)
c.1274G>T (p.Ser425Ile)
11g.66850299C>GCA381492506PCc.2639G>C (p.Ser880Thr)
n.290-234G>C
c.*648G>C (n.*648G>C)
c.*1115G>C (n.*1115G>C)
c.-2G>C (n.-2G>C)
c.1118G>C (p.Ser373Thr)
c.1343G>C (p.Ser448Thr)
c.1274G>C (p.Ser425Thr)
gnomAD v4
11g.66850299C>TCA381492505PCc.2639G>A (p.Ser880Asn)
n.290-234G>A
c.*648G>A (n.*648G>A)
c.*1115G>A (n.*1115G>A)
c.-2G>A (n.-2G>A)
c.1118G>A (p.Ser373Asn)
c.1343G>A (p.Ser448Asn)
c.1274G>A (p.Ser425Asn)
11g.66850300T>ACA381492507PCc.2638A>T (p.Ser880Cys)
n.290-235A>T
c.*647A>T (n.*647A>T)
c.*1114A>T (n.*1114A>T)
c.-3A>T (n.-3A>T)
c.1117A>T (p.Ser373Cys)
c.1342A>T (p.Ser448Cys)
c.1273A>T (p.Ser425Cys)
11g.66850300T>CCA381492508PCc.2638A>G (p.Ser880Gly)
n.290-235A>G
c.*647A>G (n.*647A>G)
c.*1114A>G (n.*1114A>G)
c.-3A>G (n.-3A>G)
c.1117A>G (p.Ser373Gly)
c.1342A>G (p.Ser448Gly)
c.1273A>G (p.Ser425Gly)
ClinVar gnomAD v4
11g.66850300T>GCA381492509PCc.2638A>C (p.Ser880Arg)
n.290-235A>C
c.*647A>C (n.*647A>C)
c.*1114A>C (n.*1114A>C)
c.-3A>C (n.-3A>C)
c.1117A>C (p.Ser373Arg)
c.1342A>C (p.Ser448Arg)
c.1273A>C (p.Ser425Arg)
11g.66850302_66850303delCA2792479711PCc.2637_2638del (p.His879GlnfsTer?)
n.290-236_290-235del
c.*646_*647del (n.*646_*647del)
c.*1113_*1114del (n.*1113_*1114del)
c.-4_-3del (n.-4_-3del)
c.1116_1117del (p.His372GlnfsTer?)
c.1341_1342del (p.His447GlnfsTer?)
c.1272_1273del (p.His424GlnfsTer?)
11g.66850301G>ACA475500715PCc.2637C>T (p.His879=)
n.290-236C>T
c.*646C>T (n.*646C>T)
c.*1113C>T (n.*1113C>T)
c.-4C>T (n.-4C>T)
c.1116C>T (p.His372=)
c.1341C>T (p.His447=)
c.1272C>T (p.His424=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66850301G>CCA381492511PCc.2637C>G (p.His879Gln)
n.290-236C>G
c.*646C>G (n.*646C>G)
c.*1113C>G (n.*1113C>G)
c.-4C>G (n.-4C>G)
c.1116C>G (p.His372Gln)
c.1341C>G (p.His447Gln)
c.1272C>G (p.His424Gln)
11g.66850301G=CA1979879395PCc.2637C= (p.His879=)
n.290-236C=
c.*646C= (n.*646C=)
c.*1113C= (n.*1113C=)
c.-4C= (n.-4C=)
c.1116C= (p.His372=)
c.1341C= (p.His447=)
c.1272C= (p.His424=)
11g.66850301G>TCA381492513PCc.2637C>A (p.His879Gln)
n.290-236C>A
c.*646C>A (n.*646C>A)
c.*1113C>A (n.*1113C>A)
c.-4C>A (n.-4C>A)
c.1116C>A (p.His372Gln)
c.1341C>A (p.His447Gln)
c.1272C>A (p.His424Gln)
11g.66850302T>ACA381492515PCc.2636A>T (p.His879Leu)
n.290-237A>T
c.*645A>T (n.*645A>T)
c.*1112A>T (n.*1112A>T)
c.-5A>T (n.-5A>T)
c.1115A>T (p.His372Leu)
c.1340A>T (p.His447Leu)
c.1271A>T (p.His424Leu)
11g.66850302T>CCA6131025PCc.2636A>G (p.His879Arg)
n.290-237A>G
c.*645A>G (n.*645A>G)
c.*1112A>G (n.*1112A>G)
c.-5A>G (n.-5A>G)
c.1115A>G (p.His372Arg)
c.1340A>G (p.His447Arg)
c.1271A>G (p.His424Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66850302T>GCA381492518PCc.2636A>C (p.His879Pro)
n.290-237A>C
c.*645A>C (n.*645A>C)
c.*1112A>C (n.*1112A>C)
c.-5A>C (n.-5A>C)
c.1115A>C (p.His372Pro)
c.1340A>C (p.His447Pro)
c.1271A>C (p.His424Pro)
11g.66850302T=CA1979879398PCc.2636A= (p.His879=)
n.290-237A=
c.*645A= (n.*645A=)
c.*1112A= (n.*1112A=)
c.-5A= (n.-5A=)
c.1115A= (p.His372=)
c.1340A= (p.His447=)
c.1271A= (p.His424=)
11g.66850303G>ACA381492519PCc.2635C>T (p.His879Tyr)
n.290-238C>T
c.*644C>T (n.*644C>T)
c.*1111C>T (n.*1111C>T)
c.-6C>T (n.-6C>T)
c.1114C>T (p.His372Tyr)
c.1339C>T (p.His447Tyr)
c.1270C>T (p.His424Tyr)
gnomAD v4
11g.66850303G>CCA381492520PCc.2635C>G (p.His879Asp)
n.290-238C>G
c.*644C>G (n.*644C>G)
c.*1111C>G (n.*1111C>G)
c.-6C>G (n.-6C>G)
c.1114C>G (p.His372Asp)
c.1339C>G (p.His447Asp)
c.1270C>G (p.His424Asp)
11g.66850303G>TCA381492521PCc.2635C>A (p.His879Asn)
n.290-238C>A
c.*644C>A (n.*644C>A)
c.*1111C>A (n.*1111C>A)
c.-6C>A (n.-6C>A)
c.1114C>A (p.His372Asn)
c.1339C>A (p.His447Asn)
c.1270C>A (p.His424Asn)
11g.66850304G>ACA475500719PCc.2634C>T (p.Ala878=)
n.290-239C>T
c.*643C>T (n.*643C>T)
c.*1110C>T (n.*1110C>T)
c.-7C>T (n.-7C>T)
c.1113C>T (p.Ala371=)
c.1338C>T (p.Ala446=)
c.1269C>T (p.Ala423=)
11g.66850304G>CCA475500720PCc.2634C>G (p.Ala878=)
n.290-239C>G
c.*643C>G (n.*643C>G)
c.*1110C>G (n.*1110C>G)
c.-7C>G (n.-7C>G)
c.1113C>G (p.Ala371=)
c.1338C>G (p.Ala446=)
c.1269C>G (p.Ala423=)
11g.66850304G>TCA475500721PCc.2634C>A (p.Ala878=)
n.290-239C>A
c.*643C>A (n.*643C>A)
c.*1110C>A (n.*1110C>A)
c.-7C>A (n.-7C>A)
c.1113C>A (p.Ala371=)
c.1338C>A (p.Ala446=)
c.1269C>A (p.Ala423=)
11g.66850305G>ACA381492524PCc.2633C>T (p.Ala878Val)
n.290-240C>T
c.*642C>T (n.*642C>T)
c.*1109C>T (n.*1109C>T)
c.-8C>T (n.-8C>T)
c.1112C>T (p.Ala371Val)
c.1337C>T (p.Ala446Val)
c.1268C>T (p.Ala423Val)
11g.66850305G>CCA381492527PCc.2633C>G (p.Ala878Gly)
n.290-240C>G
c.*642C>G (n.*642C>G)
c.*1109C>G (n.*1109C>G)
c.-8C>G (n.-8C>G)
c.1112C>G (p.Ala371Gly)
c.1337C>G (p.Ala446Gly)
c.1268C>G (p.Ala423Gly)
11g.66850305G>TCA381492525PCc.2633C>A (p.Ala878Asp)
n.290-240C>A
c.*642C>A (n.*642C>A)
c.*1109C>A (n.*1109C>A)
c.-8C>A (n.-8C>A)
c.1112C>A (p.Ala371Asp)
c.1337C>A (p.Ala446Asp)
c.1268C>A (p.Ala423Asp)
11g.66850306C>ACA381492528PCc.2632G>T (p.Ala878Ser)
n.290-241G>T
c.*641G>T (n.*641G>T)
c.*1108G>T (n.*1108G>T)
c.-9G>T (n.-9G>T)
c.1111G>T (p.Ala371Ser)
c.1336G>T (p.Ala446Ser)
c.1267G>T (p.Ala423Ser)
11g.66850306C>GCA381492529PCc.2632G>C (p.Ala878Pro)
n.290-241G>C
c.*641G>C (n.*641G>C)
c.*1108G>C (n.*1108G>C)
c.-9G>C (n.-9G>C)
c.1111G>C (p.Ala371Pro)
c.1336G>C (p.Ala446Pro)
c.1267G>C (p.Ala423Pro)
11g.66850306C>TCA381492531PCc.2632G>A (p.Ala878Thr)
n.290-241G>A
c.*641G>A (n.*641G>A)
c.*1108G>A (n.*1108G>A)
c.-9G>A (n.-9G>A)
c.1111G>A (p.Ala371Thr)
c.1336G>A (p.Ala446Thr)
c.1267G>A (p.Ala423Thr)

Number of alleles fetched