Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72108606T>A | CA381723359 | ANAPC15,LRRC51,LRTOMT,TOMT | c.458T>A (p.Val153Glu) c.439T>A (p.Trp147Arg) c.557T>A (p.Val186Glu) c.436T>A (p.Trp146Arg) c.*276T>A (n.*276T>A) c.64-1001A>T (n.64-1001A>T) c.319-1001A>T (n.319-1001A>T) c.437T>A (p.Val146Glu) c.782T>A (p.Val261Glu) c.*213A>T (n.*213A>T) n.837A>T | |
11 | g.72108606T>C | CA381723337 | ANAPC15,LRRC51,LRTOMT,TOMT | c.458T>C (p.Val153Ala) c.439T>C (p.Trp147Arg) c.557T>C (p.Val186Ala) c.436T>C (p.Trp146Arg) c.*276T>C (n.*276T>C) c.64-1001A>G (n.64-1001A>G) c.319-1001A>G (n.319-1001A>G) c.437T>C (p.Val146Ala) c.782T>C (p.Val261Ala) c.*213A>G (n.*213A>G) n.837A>G | |
11 | g.72108606T>G | CA381723335 | ANAPC15,LRRC51,LRTOMT,TOMT | c.458T>G (p.Val153Gly) c.439T>G (p.Trp147Gly) c.557T>G (p.Val186Gly) c.436T>G (p.Trp146Gly) c.*276T>G (n.*276T>G) c.64-1001A>C (n.64-1001A>C) c.319-1001A>C (n.319-1001A>C) c.437T>G (p.Val146Gly) c.782T>G (p.Val261Gly) c.*213A>C (n.*213A>C) n.837A>C | |
11 | g.72108607G>A | CA381723380 | ANAPC15,LRRC51,LRTOMT,TOMT | c.459G>A (p.Val153=) c.440G>A (p.Trp147Ter) c.558G>A (p.Val186=) c.437G>A (p.Trp146Ter) c.*277G>A (n.*277G>A) c.64-1002C>T (n.64-1002C>T) c.319-1002C>T (n.319-1002C>T) c.438G>A (p.Val146=) c.783G>A (p.Val261=) c.*212C>T (n.*212C>T) n.836C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108607G>C | CA381723369 | ANAPC15,LRRC51,LRTOMT,TOMT | c.459G>C (p.Val153=) c.440G>C (p.Trp147Ser) c.558G>C (p.Val186=) c.437G>C (p.Trp146Ser) c.*277G>C (n.*277G>C) c.64-1002C>G (n.64-1002C>G) c.319-1002C>G (n.319-1002C>G) c.438G>C (p.Val146=) c.783G>C (p.Val261=) c.*212C>G (n.*212C>G) n.836C>G | |
11 | g.72108607G= | CA1981841015 | ANAPC15,LRRC51,LRTOMT,TOMT | c.459G= (p.Val153=) c.440G= (p.Trp147=) c.558G= (p.Val186=) c.437G= (p.Trp146=) c.*277G= (n.*277G=) c.64-1002C= (n.64-1002C=) c.319-1002C= (n.319-1002C=) c.438G= (p.Val146=) c.783G= (p.Val261=) c.*212C= (n.*212C=) n.836C= | |
11 | g.72108607G>T | CA381723375 | ANAPC15,LRRC51,LRTOMT,TOMT | c.459G>T (p.Val153=) c.440G>T (p.Trp147Leu) c.558G>T (p.Val186=) c.437G>T (p.Trp146Leu) c.*277G>T (n.*277G>T) c.64-1002C>A (n.64-1002C>A) c.319-1002C>A (n.319-1002C>A) c.438G>T (p.Val146=) c.783G>T (p.Val261=) c.*212C>A (n.*212C>A) n.836C>A | gnomAD v4 |
11 | g.72108608G>A | CA381723386 | ANAPC15,LRRC51,LRTOMT,TOMT | c.460G>A (p.Glu154Lys) c.441G>A (p.Trp147Ter) c.559G>A (p.Glu187Lys) c.438G>A (p.Trp146Ter) c.*278G>A (n.*278G>A) c.64-1003C>T (n.64-1003C>T) c.319-1003C>T (n.319-1003C>T) c.439G>A (p.Glu147Lys) c.784G>A (p.Glu262Lys) c.*211C>T (n.*211C>T) n.835C>T | gnomAD v4 |
11 | g.72108608G>C | CA381723389 | ANAPC15,LRRC51,LRTOMT,TOMT | c.460G>C (p.Glu154Gln) c.441G>C (p.Trp147Cys) c.559G>C (p.Glu187Gln) c.438G>C (p.Trp146Cys) c.*278G>C (n.*278G>C) c.64-1003C>G (n.64-1003C>G) c.319-1003C>G (n.319-1003C>G) c.439G>C (p.Glu147Gln) c.784G>C (p.Glu262Gln) c.*211C>G (n.*211C>G) n.835C>G | |
11 | g.72108608G>T | CA381723396 | ANAPC15,LRRC51,LRTOMT,TOMT | c.460G>T (p.Glu154Ter) c.441G>T (p.Trp147Cys) c.559G>T (p.Glu187Ter) c.438G>T (p.Trp146Cys) c.*278G>T (n.*278G>T) c.64-1003C>A (n.64-1003C>A) c.319-1003C>A (n.319-1003C>A) c.439G>T (p.Glu147Ter) c.784G>T (p.Glu262Ter) c.*211C>A (n.*211C>A) n.835C>A | gnomAD v4 |
11 | g.72108609A= | CA1981841016 | ANAPC15,LRRC51,LRTOMT,TOMT | c.461A= (p.Glu154=) c.442A= (p.Ser148=) c.560A= (p.Glu187=) c.439A= (p.Ser147=) c.*279A= (n.*279A=) c.64-1004T= (n.64-1004T=) c.319-1004T= (n.319-1004T=) c.440A= (p.Glu147=) c.785A= (p.Glu262=) c.*210T= (n.*210T=) n.834T= | |
11 | g.72108609A>C | CA381723404 | ANAPC15,LRRC51,LRTOMT,TOMT | c.461A>C (p.Glu154Ala) c.442A>C (p.Ser148Arg) c.560A>C (p.Glu187Ala) c.439A>C (p.Ser147Arg) c.*279A>C (n.*279A>C) c.64-1004T>G (n.64-1004T>G) c.319-1004T>G (n.319-1004T>G) c.440A>C (p.Glu147Ala) c.785A>C (p.Glu262Ala) c.*210T>G (n.*210T>G) n.834T>G | |
11 | g.72108609A>G | CA381723401 | ANAPC15,LRRC51,LRTOMT,TOMT | c.461A>G (p.Glu154Gly) c.442A>G (p.Ser148Gly) c.560A>G (p.Glu187Gly) c.439A>G (p.Ser147Gly) c.*279A>G (n.*279A>G) c.64-1004T>C (n.64-1004T>C) c.319-1004T>C (n.319-1004T>C) c.440A>G (p.Glu147Gly) c.785A>G (p.Glu262Gly) c.*210T>C (n.*210T>C) n.834T>C | gnomAD v4 |
11 | g.72108609A>T | CA381723400 | ANAPC15,LRRC51,LRTOMT,TOMT | c.461A>T (p.Glu154Val) c.442A>T (p.Ser148Cys) c.560A>T (p.Glu187Val) c.439A>T (p.Ser147Cys) c.*279A>T (n.*279A>T) c.64-1004T>A (n.64-1004T>A) c.319-1004T>A (n.319-1004T>A) c.440A>T (p.Glu147Val) c.785A>T (p.Glu262Val) c.*210T>A (n.*210T>A) n.834T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108610G>A | CA224375517 | ANAPC15,LRRC51,LRTOMT,TOMT | c.462G>A (p.Glu154=) c.443G>A (p.Ser148Asn) c.561G>A (p.Glu187=) c.440G>A (p.Ser147Asn) c.*280G>A (n.*280G>A) c.64-1005C>T (n.64-1005C>T) c.319-1005C>T (n.319-1005C>T) c.441G>A (p.Glu147=) c.786G>A (p.Glu262=) c.*209C>T (n.*209C>T) n.833C>T | dbSNP gnomAD v4 |
11 | g.72108610G>C | CA381723415 | ANAPC15,LRRC51,LRTOMT,TOMT | c.462G>C (p.Glu154Asp) c.443G>C (p.Ser148Thr) c.561G>C (p.Glu187Asp) c.440G>C (p.Ser147Thr) c.*280G>C (n.*280G>C) c.64-1005C>G (n.64-1005C>G) c.319-1005C>G (n.319-1005C>G) c.441G>C (p.Glu147Asp) c.786G>C (p.Glu262Asp) c.*209C>G (n.*209C>G) n.833C>G | |
11 | g.72108610G= | CA1981841017 | ANAPC15,LRRC51,LRTOMT,TOMT | c.462G= (p.Glu154=) c.443G= (p.Ser148=) c.561G= (p.Glu187=) c.440G= (p.Ser147=) c.*280G= (n.*280G=) c.64-1005C= (n.64-1005C=) c.319-1005C= (n.319-1005C=) c.441G= (p.Glu147=) c.786G= (p.Glu262=) c.*209C= (n.*209C=) n.833C= | |
11 | g.72108610G>T | CA381723433 | ANAPC15,LRRC51,LRTOMT,TOMT | c.462G>T (p.Glu154Asp) c.443G>T (p.Ser148Ile) c.561G>T (p.Glu187Asp) c.440G>T (p.Ser147Ile) c.*280G>T (n.*280G>T) c.64-1005C>A (n.64-1005C>A) c.319-1005C>A (n.319-1005C>A) c.441G>T (p.Glu147Asp) c.786G>T (p.Glu262Asp) c.*209C>A (n.*209C>A) n.833C>A | gnomAD v4 |
11 | g.72108611C>A | CA381723445 | ANAPC15,LRRC51,LRTOMT,TOMT | c.463C>A (p.Leu155Ile) c.444C>A (p.Ser148Arg) c.562C>A (p.Leu188Ile) c.441C>A (p.Ser147Arg) c.*281C>A (n.*281C>A) c.64-1006G>T (n.64-1006G>T) c.319-1006G>T (n.319-1006G>T) c.442C>A (p.Leu148Ile) c.787C>A (p.Leu263Ile) c.*208G>T (n.*208G>T) n.832G>T | gnomAD v4 |
11 | g.72108611C= | CA1981841018 | ANAPC15,LRRC51,LRTOMT,TOMT | c.463C= (p.Leu155=) c.444C= (p.Ser148=) c.562C= (p.Leu188=) c.441C= (p.Ser147=) c.*281C= (n.*281C=) c.64-1006G= (n.64-1006G=) c.319-1006G= (n.319-1006G=) c.442C= (p.Leu148=) c.787C= (p.Leu263=) c.*208G= (n.*208G=) n.832G= | |
11 | g.72108611C>G | CA381723457 | ANAPC15,LRRC51,LRTOMT,TOMT | c.463C>G (p.Leu155Val) c.444C>G (p.Ser148Arg) c.562C>G (p.Leu188Val) c.441C>G (p.Ser147Arg) c.*281C>G (n.*281C>G) c.64-1006G>C (n.64-1006G>C) c.319-1006G>C (n.319-1006G>C) c.442C>G (p.Leu148Val) c.787C>G (p.Leu263Val) c.*208G>C (n.*208G>C) n.832G>C | gnomAD v4 |
11 | g.72108611C>T | CA381723459 | ANAPC15,LRRC51,LRTOMT,TOMT | c.463C>T (p.Leu155Phe) c.444C>T (p.Ser148=) c.562C>T (p.Leu188Phe) c.441C>T (p.Ser147=) c.*281C>T (n.*281C>T) c.64-1006G>A (n.64-1006G>A) c.319-1006G>A (n.319-1006G>A) c.442C>T (p.Leu148Phe) c.787C>T (p.Leu263Phe) c.*208G>A (n.*208G>A) n.832G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108612T>A | CA381723473 | ANAPC15,LRRC51,LRTOMT,TOMT | c.464T>A (p.Leu155His) c.445T>A (p.Ser149Thr) c.563T>A (p.Leu188His) c.442T>A (p.Ser148Thr) c.*282T>A (n.*282T>A) c.64-1007A>T (n.64-1007A>T) c.319-1007A>T (n.319-1007A>T) c.443T>A (p.Leu148His) c.788T>A (p.Leu263His) c.*207A>T (n.*207A>T) n.831A>T | |
11 | g.72108612T>C | CA381723487 | ANAPC15,LRRC51,LRTOMT,TOMT | c.464T>C (p.Leu155Pro) c.445T>C (p.Ser149Pro) c.563T>C (p.Leu188Pro) c.442T>C (p.Ser148Pro) c.*282T>C (n.*282T>C) c.64-1007A>G (n.64-1007A>G) c.319-1007A>G (n.319-1007A>G) c.443T>C (p.Leu148Pro) c.788T>C (p.Leu263Pro) c.*207A>G (n.*207A>G) n.831A>G | gnomAD v4 |
11 | g.72108612T>G | CA381723483 | ANAPC15,LRRC51,LRTOMT,TOMT | c.464T>G (p.Leu155Arg) c.445T>G (p.Ser149Ala) c.563T>G (p.Leu188Arg) c.442T>G (p.Ser148Ala) c.*282T>G (n.*282T>G) c.64-1007A>C (n.64-1007A>C) c.319-1007A>C (n.319-1007A>C) c.443T>G (p.Leu148Arg) c.788T>G (p.Leu263Arg) c.*207A>C (n.*207A>C) n.831A>C | |
11 | g.72108613C>A | CA381723494 | ANAPC15,LRRC51,LRTOMT,TOMT | c.465C>A (p.Leu155=) c.446C>A (p.Ser149Ter) c.564C>A (p.Leu188=) c.443C>A (p.Ser148Ter) c.*283C>A (n.*283C>A) c.64-1008G>T (n.64-1008G>T) c.319-1008G>T (n.319-1008G>T) c.444C>A (p.Leu148=) c.789C>A (p.Leu263=) c.*206G>T (n.*206G>T) n.830G>T | gnomAD v4 |
11 | g.72108613C>G | CA381723508 | ANAPC15,LRRC51,LRTOMT,TOMT | c.465C>G (p.Leu155=) c.446C>G (p.Ser149Ter) c.564C>G (p.Leu188=) c.443C>G (p.Ser148Ter) c.*283C>G (n.*283C>G) c.64-1008G>C (n.64-1008G>C) c.319-1008G>C (n.319-1008G>C) c.444C>G (p.Leu148=) c.789C>G (p.Leu263=) c.*206G>C (n.*206G>C) n.830G>C | |
11 | g.72108613C>T | CA381723511 | ANAPC15,LRRC51,LRTOMT,TOMT | c.465C>T (p.Leu155=) c.446C>T (p.Ser149Leu) c.564C>T (p.Leu188=) c.443C>T (p.Ser148Leu) c.*283C>T (n.*283C>T) c.64-1008G>A (n.64-1008G>A) c.319-1008G>A (n.319-1008G>A) c.444C>T (p.Leu148=) c.789C>T (p.Leu263=) c.*206G>A (n.*206G>A) n.830G>A | gnomAD v4 |
11 | g.72108614A= | CA1981841019 | ANAPC15,LRRC51,LRTOMT,TOMT | c.466A= (p.Ile156=) c.447A= (p.Ser149=) c.565A= (p.Ile189=) c.444A= (p.Ser148=) c.*284A= (n.*284A=) c.64-1009T= (n.64-1009T=) c.319-1009T= (n.319-1009T=) c.445A= (p.Ile149=) c.790A= (p.Ile264=) c.*205T= (n.*205T=) n.829T= | |
11 | g.72108614A>C | CA381723516 | ANAPC15,LRRC51,LRTOMT,TOMT | c.466A>C (p.Ile156Leu) c.447A>C (p.Ser149=) c.565A>C (p.Ile189Leu) c.444A>C (p.Ser148=) c.*284A>C (n.*284A>C) c.64-1009T>G (n.64-1009T>G) c.319-1009T>G (n.319-1009T>G) c.445A>C (p.Ile149Leu) c.790A>C (p.Ile264Leu) c.*205T>G (n.*205T>G) n.829T>G | |
11 | g.72108614A>G | CA381723518 | ANAPC15,LRRC51,LRTOMT,TOMT | c.466A>G (p.Ile156Val) c.447A>G (p.Ser149=) c.565A>G (p.Ile189Val) c.444A>G (p.Ser148=) c.*284A>G (n.*284A>G) c.64-1009T>C (n.64-1009T>C) c.319-1009T>C (n.319-1009T>C) c.445A>G (p.Ile149Val) c.790A>G (p.Ile264Val) c.*205T>C (n.*205T>C) n.829T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108614A>T | CA381723520 | ANAPC15,LRRC51,LRTOMT,TOMT | c.466A>T (p.Ile156Phe) c.447A>T (p.Ser149=) c.565A>T (p.Ile189Phe) c.444A>T (p.Ser148=) c.*284A>T (n.*284A>T) c.64-1009T>A (n.64-1009T>A) c.319-1009T>A (n.319-1009T>A) c.445A>T (p.Ile149Phe) c.790A>T (p.Ile264Phe) c.*205T>A (n.*205T>A) n.829T>A | |
11 | g.72108614_72108615delinsAT | CA1981841020 | ANAPC15,LRRC51,LRTOMT,TOMT | c.466_467delinsAT (p.Ile156=) c.447_448delinsAT (p.Ser149=) c.565_566delinsAT (p.Ile189=) c.444_445delinsAT (p.Ser148=) c.*284_*285delinsAT (n.*284_*285delinsAT) c.64-1010_64-1009delinsAT (n.64-1010_64-1009delinsAT) c.319-1010_319-1009delinsAT (n.319-1010_319-1009delinsAT) c.445_446delinsAT (p.Ile149=) c.790_791delinsAT (p.Ile264=) c.*204_*205delinsAT (n.*204_*205delinsAT) n.828_829delinsAT | |
11 | g.72108615del | CA600242748 | ANAPC15,LRRC51,LRTOMT,TOMT | c.467del (p.Ile156ThrfsTer8) c.448del (p.Ser150ArgfsTer?) c.566del (p.Ile189ThrfsTer8) c.445del (p.Ser149ArgfsTer?) c.*285del (n.*285del) c.64-1010del (n.64-1010del) c.319-1010del (n.319-1010del) c.446del (p.Ile149ThrfsTer8) c.791del (p.Ile264ThrfsTer8) c.*204del (n.*204del) n.828del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108615T>A | CA381723523 | ANAPC15,LRRC51,LRTOMT,TOMT | c.467T>A (p.Ile156Asn) c.448T>A (p.Ser150Thr) c.566T>A (p.Ile189Asn) c.445T>A (p.Ser149Thr) c.*285T>A (n.*285T>A) c.64-1010A>T (n.64-1010A>T) c.319-1010A>T (n.319-1010A>T) c.446T>A (p.Ile149Asn) c.791T>A (p.Ile264Asn) c.*204A>T (n.*204A>T) n.828A>T | gnomAD v4 |
11 | g.72108615T>C | CA381723525 | ANAPC15,LRRC51,LRTOMT,TOMT | c.467T>C (p.Ile156Thr) c.448T>C (p.Ser150Pro) c.566T>C (p.Ile189Thr) c.445T>C (p.Ser149Pro) c.*285T>C (n.*285T>C) c.64-1010A>G (n.64-1010A>G) c.319-1010A>G (n.319-1010A>G) c.446T>C (p.Ile149Thr) c.791T>C (p.Ile264Thr) c.*204A>G (n.*204A>G) n.828A>G | |
11 | g.72108615T>G | CA381723527 | ANAPC15,LRRC51,LRTOMT,TOMT | c.467T>G (p.Ile156Ser) c.448T>G (p.Ser150Ala) c.566T>G (p.Ile189Ser) c.445T>G (p.Ser149Ala) c.*285T>G (n.*285T>G) c.64-1010A>C (n.64-1010A>C) c.319-1010A>C (n.319-1010A>C) c.446T>G (p.Ile149Ser) c.791T>G (p.Ile264Ser) c.*204A>C (n.*204A>C) n.828A>C | |
11 | g.72108616C>A | CA381723530 | ANAPC15,LRRC51,LRTOMT,TOMT | c.468C>A (p.Ile156=) c.449C>A (p.Ser150Ter) c.567C>A (p.Ile189=) c.446C>A (p.Ser149Ter) c.*286C>A (n.*286C>A) c.64-1011G>T (n.64-1011G>T) c.319-1011G>T (n.319-1011G>T) c.447C>A (p.Ile149=) c.792C>A (p.Ile264=) c.*203G>T (n.*203G>T) n.827G>T | gnomAD v4 |
11 | g.72108616C= | CA1981841021 | ANAPC15,LRRC51,LRTOMT,TOMT | c.468C= (p.Ile156=) c.449C= (p.Ser150=) c.567C= (p.Ile189=) c.446C= (p.Ser149=) c.*286C= (n.*286C=) c.64-1011G= (n.64-1011G=) c.319-1011G= (n.319-1011G=) c.447C= (p.Ile149=) c.792C= (p.Ile264=) c.*203G= (n.*203G=) n.827G= | |
11 | g.72108616C>G | CA381723533 | ANAPC15,LRRC51,LRTOMT,TOMT | c.468C>G (p.Ile156Met) c.449C>G (p.Ser150Trp) c.567C>G (p.Ile189Met) c.446C>G (p.Ser149Trp) c.*286C>G (n.*286C>G) c.64-1011G>C (n.64-1011G>C) c.319-1011G>C (n.319-1011G>C) c.447C>G (p.Ile149Met) c.792C>G (p.Ile264Met) c.*203G>C (n.*203G>C) n.827G>C | |
11 | g.72108616C>T | CA224375521 | ANAPC15,LRRC51,LRTOMT,TOMT | c.468C>T (p.Ile156=) c.449C>T (p.Ser150Leu) c.567C>T (p.Ile189=) c.446C>T (p.Ser149Leu) c.*286C>T (n.*286C>T) c.64-1011G>A (n.64-1011G>A) c.319-1011G>A (n.319-1011G>A) c.447C>T (p.Ile149=) c.792C>T (p.Ile264=) c.*203G>A (n.*203G>A) n.827G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108617G>A | CA10639357 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>A (p.Val157Met) c.450G>A (p.Ser150=) c.568G>A (p.Val190Met) c.447G>A (p.Ser149=) c.*287G>A (n.*287G>A) c.64-1012C>T (n.64-1012C>T) c.319-1012C>T (n.319-1012C>T) c.448G>A (p.Val150Met) c.793G>A (p.Val265Met) c.*202C>T (n.*202C>T) n.826C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108617G>C | CA381723542 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>C (p.Val157Leu) c.450G>C (p.Ser150=) c.568G>C (p.Val190Leu) c.447G>C (p.Ser149=) c.*287G>C (n.*287G>C) c.64-1012C>G (n.64-1012C>G) c.319-1012C>G (n.319-1012C>G) c.448G>C (p.Val150Leu) c.793G>C (p.Val265Leu) c.*202C>G (n.*202C>G) n.826C>G | |
11 | g.72108617G= | CA1981841022 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G= (p.Val157=) c.450G= (p.Ser150=) c.568G= (p.Val190=) c.447G= (p.Ser149=) c.*287G= (n.*287G=) c.64-1012C= (n.64-1012C=) c.319-1012C= (n.319-1012C=) c.448G= (p.Val150=) c.793G= (p.Val265=) c.*202C= (n.*202C=) n.826C= | |
11 | g.72108617G>T | CA381723538 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>T (p.Val157Leu) c.450G>T (p.Ser150=) c.568G>T (p.Val190Leu) c.447G>T (p.Ser149=) c.*287G>T (n.*287G>T) c.64-1012C>A (n.64-1012C>A) c.319-1012C>A (n.319-1012C>A) c.448G>T (p.Val150Leu) c.793G>T (p.Val265Leu) c.*202C>A (n.*202C>A) n.826C>A | gnomAD v4 |
11 | g.72108618_72108620del | CA2574912156 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470_472del (p.Val157del) c.451_453del (p.Trp151del) c.569_571del (p.Val190del) c.448_450del (p.Trp150del) c.*288_*290del (n.*288_*290del) c.64-1014_64-1012del (n.64-1014_64-1012del) c.319-1014_319-1012del (n.319-1014_319-1012del) c.449_451del (p.Val150del) c.794_796del (p.Val265del) c.*200_*202del (n.*200_*202del) n.824_826del | |
11 | g.72108618T>A | CA381723543 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>A (p.Val157Glu) c.451T>A (p.Trp151Arg) c.569T>A (p.Val190Glu) c.448T>A (p.Trp150Arg) c.*288T>A (n.*288T>A) c.64-1013A>T (n.64-1013A>T) c.319-1013A>T (n.319-1013A>T) c.449T>A (p.Val150Glu) c.794T>A (p.Val265Glu) c.*201A>T (n.*201A>T) n.825A>T | |
11 | g.72108618T>C | CA381723549 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>C (p.Val157Ala) c.451T>C (p.Trp151Arg) c.569T>C (p.Val190Ala) c.448T>C (p.Trp150Arg) c.*288T>C (n.*288T>C) c.64-1013A>G (n.64-1013A>G) c.319-1013A>G (n.319-1013A>G) c.449T>C (p.Val150Ala) c.794T>C (p.Val265Ala) c.*201A>G (n.*201A>G) n.825A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108618T>G | CA381723545 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>G (p.Val157Gly) c.451T>G (p.Trp151Gly) c.569T>G (p.Val190Gly) c.448T>G (p.Trp150Gly) c.*288T>G (n.*288T>G) c.64-1013A>C (n.64-1013A>C) c.319-1013A>C (n.319-1013A>C) c.449T>G (p.Val150Gly) c.794T>G (p.Val265Gly) c.*201A>C (n.*201A>C) n.825A>C | |
11 | g.72108618T= | CA1981841023 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T= (p.Val157=) c.451T= (p.Trp151=) c.569T= (p.Val190=) c.448T= (p.Trp150=) c.*288T= (n.*288T=) c.64-1013A= (n.64-1013A=) c.319-1013A= (n.319-1013A=) c.449T= (p.Val150=) c.794T= (p.Val265=) c.*201A= (n.*201A=) n.825A= | |
11 | g.72108619G>A | CA381723554 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>A (p.Val157=) c.452G>A (p.Trp151Ter) c.570G>A (p.Val190=) c.449G>A (p.Trp150Ter) c.*289G>A (n.*289G>A) c.64-1014C>T (n.64-1014C>T) c.319-1014C>T (n.319-1014C>T) c.450G>A (p.Val150=) c.795G>A (p.Val265=) c.*200C>T (n.*200C>T) n.824C>T | gnomAD v4 |
11 | g.72108619G>C | CA381723556 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>C (p.Val157=) c.452G>C (p.Trp151Ser) c.570G>C (p.Val190=) c.449G>C (p.Trp150Ser) c.*289G>C (n.*289G>C) c.64-1014C>G (n.64-1014C>G) c.319-1014C>G (n.319-1014C>G) c.450G>C (p.Val150=) c.795G>C (p.Val265=) c.*200C>G (n.*200C>G) n.824C>G | |
11 | g.72108619G>T | CA381723560 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>T (p.Val157=) c.452G>T (p.Trp151Leu) c.570G>T (p.Val190=) c.449G>T (p.Trp150Leu) c.*289G>T (n.*289G>T) c.64-1014C>A (n.64-1014C>A) c.319-1014C>A (n.319-1014C>A) c.450G>T (p.Val150=) c.795G>T (p.Val265=) c.*200C>A (n.*200C>A) n.824C>A | gnomAD v4 |
11 | g.72108620G>A | CA381723564 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>A (p.Gly158Ser) c.453G>A (p.Trp151Ter) c.571G>A (p.Gly191Ser) c.450G>A (p.Trp150Ter) c.*290G>A (n.*290G>A) c.64-1015C>T (n.64-1015C>T) c.319-1015C>T (n.319-1015C>T) c.451G>A (p.Gly151Ser) c.796G>A (p.Gly266Ser) c.*199C>T (n.*199C>T) n.823C>T | |
11 | g.72108620G>C | CA381723567 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>C (p.Gly158Arg) c.453G>C (p.Trp151Cys) c.571G>C (p.Gly191Arg) c.450G>C (p.Trp150Cys) c.*290G>C (n.*290G>C) c.64-1015C>G (n.64-1015C>G) c.319-1015C>G (n.319-1015C>G) c.451G>C (p.Gly151Arg) c.796G>C (p.Gly266Arg) c.*199C>G (n.*199C>G) n.823C>G | |
11 | g.72108620G>T | CA381723570 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>T (p.Gly158Cys) c.453G>T (p.Trp151Cys) c.571G>T (p.Gly191Cys) c.450G>T (p.Trp150Cys) c.*290G>T (n.*290G>T) c.64-1015C>A (n.64-1015C>A) c.319-1015C>A (n.319-1015C>A) c.451G>T (p.Gly151Cys) c.796G>T (p.Gly266Cys) c.*199C>A (n.*199C>A) n.823C>A | gnomAD v4 |
11 | g.72108621G>A | CA381723576 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>A (p.Gly158Asp) c.454G>A (p.Ala152Thr) c.572G>A (p.Gly191Asp) c.451G>A (p.Ala151Thr) c.*291G>A (n.*291G>A) c.64-1016C>T (n.64-1016C>T) c.319-1016C>T (n.319-1016C>T) c.452G>A (p.Gly151Asp) c.797G>A (p.Gly266Asp) c.*198C>T (n.*198C>T) n.822C>T | gnomAD v4 |
11 | g.72108621G>C | CA381723578 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>C (p.Gly158Ala) c.454G>C (p.Ala152Pro) c.572G>C (p.Gly191Ala) c.451G>C (p.Ala151Pro) c.*291G>C (n.*291G>C) c.64-1016C>G (n.64-1016C>G) c.319-1016C>G (n.319-1016C>G) c.452G>C (p.Gly151Ala) c.797G>C (p.Gly266Ala) c.*198C>G (n.*198C>G) n.822C>G | |
11 | g.72108621G>T | CA381723585 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>T (p.Gly158Val) c.454G>T (p.Ala152Ser) c.572G>T (p.Gly191Val) c.451G>T (p.Ala151Ser) c.*291G>T (n.*291G>T) c.64-1016C>A (n.64-1016C>A) c.319-1016C>A (n.319-1016C>A) c.452G>T (p.Gly151Val) c.797G>T (p.Gly266Val) c.*198C>A (n.*198C>A) n.822C>A | gnomAD v4 |
11 | g.72108622C>A | CA381723594 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>A (p.Gly158=) c.455C>A (p.Ala152Glu) c.573C>A (p.Gly191=) c.452C>A (p.Ala151Glu) c.*292C>A (n.*292C>A) c.64-1017G>T (n.64-1017G>T) c.319-1017G>T (n.319-1017G>T) c.453C>A (p.Gly151=) c.798C>A (p.Gly266=) c.*197G>T (n.*197G>T) n.821G>T | gnomAD v4 |
11 | g.72108622C>G | CA381723602 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>G (p.Gly158=) c.455C>G (p.Ala152Gly) c.573C>G (p.Gly191=) c.452C>G (p.Ala151Gly) c.*292C>G (n.*292C>G) c.64-1017G>C (n.64-1017G>C) c.319-1017G>C (n.319-1017G>C) c.453C>G (p.Gly151=) c.798C>G (p.Gly266=) c.*197G>C (n.*197G>C) n.821G>C | |
11 | g.72108622C>T | CA381723608 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>T (p.Gly158=) c.455C>T (p.Ala152Val) c.573C>T (p.Gly191=) c.452C>T (p.Ala151Val) c.*292C>T (n.*292C>T) c.64-1017G>A (n.64-1017G>A) c.319-1017G>A (n.319-1017G>A) c.453C>T (p.Gly151=) c.798C>T (p.Gly266=) c.*197G>A (n.*197G>A) n.821G>A | gnomAD v4 |
11 | g.72108623A>C | CA381723619 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>C (p.Ser159Arg) c.456A>C (p.Ala152=) c.574A>C (p.Ser192Arg) c.453A>C (p.Ala151=) c.*293A>C (n.*293A>C) c.64-1018T>G (n.64-1018T>G) c.319-1018T>G (n.319-1018T>G) c.454A>C (p.Ser152Arg) c.799A>C (p.Ser267Arg) c.*196T>G (n.*196T>G) n.820T>G | |
11 | g.72108623A>G | CA381723621 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>G (p.Ser159Gly) c.456A>G (p.Ala152=) c.574A>G (p.Ser192Gly) c.453A>G (p.Ala151=) c.*293A>G (n.*293A>G) c.64-1018T>C (n.64-1018T>C) c.319-1018T>C (n.319-1018T>C) c.454A>G (p.Ser152Gly) c.799A>G (p.Ser267Gly) c.*196T>C (n.*196T>C) n.820T>C | |
11 | g.72108623A>T | CA381723620 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>T (p.Ser159Cys) c.456A>T (p.Ala152=) c.574A>T (p.Ser192Cys) c.453A>T (p.Ala151=) c.*293A>T (n.*293A>T) c.64-1018T>A (n.64-1018T>A) c.319-1018T>A (n.319-1018T>A) c.454A>T (p.Ser152Cys) c.799A>T (p.Ser267Cys) c.*196T>A (n.*196T>A) n.820T>A | |
11 | g.72108624G>A | CA381723626 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>A (p.Ser159Asn) c.457G>A (p.Ala153Thr) c.575G>A (p.Ser192Asn) c.454G>A (p.Ala152Thr) c.*294G>A (n.*294G>A) c.64-1019C>T (n.64-1019C>T) c.319-1019C>T (n.319-1019C>T) c.455G>A (p.Ser152Asn) c.800G>A (p.Ser267Asn) c.*195C>T (n.*195C>T) n.819C>T | gnomAD v4 |
11 | g.72108624G>C | CA381723650 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>C (p.Ser159Thr) c.457G>C (p.Ala153Pro) c.575G>C (p.Ser192Thr) c.454G>C (p.Ala152Pro) c.*294G>C (n.*294G>C) c.64-1019C>G (n.64-1019C>G) c.319-1019C>G (n.319-1019C>G) c.455G>C (p.Ser152Thr) c.800G>C (p.Ser267Thr) c.*195C>G (n.*195C>G) n.819C>G | |
11 | g.72108624G>T | CA381723654 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>T (p.Ser159Ile) c.457G>T (p.Ala153Ser) c.575G>T (p.Ser192Ile) c.454G>T (p.Ala152Ser) c.*294G>T (n.*294G>T) c.64-1019C>A (n.64-1019C>A) c.319-1019C>A (n.319-1019C>A) c.455G>T (p.Ser152Ile) c.800G>T (p.Ser267Ile) c.*195C>A (n.*195C>A) n.819C>A | gnomAD v4 |
11 | g.72108625C>A | CA381723661 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>A (p.Ser159Arg) c.458C>A (p.Ala153Asp) c.576C>A (p.Ser192Arg) c.455C>A (p.Ala152Asp) c.*295C>A (n.*295C>A) c.64-1020G>T (n.64-1020G>T) c.319-1020G>T (n.319-1020G>T) c.456C>A (p.Ser152Arg) c.801C>A (p.Ser267Arg) c.*194G>T (n.*194G>T) n.818G>T | |
11 | g.72108625C= | CA1981841024 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C= (p.Ser159=) c.458C= (p.Ala153=) c.576C= (p.Ser192=) c.455C= (p.Ala152=) c.*295C= (n.*295C=) c.64-1020G= (n.64-1020G=) c.319-1020G= (n.319-1020G=) c.456C= (p.Ser152=) c.801C= (p.Ser267=) c.*194G= (n.*194G=) n.818G= | |
11 | g.72108625C>G | CA381723679 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>G (p.Ser159Arg) c.458C>G (p.Ala153Gly) c.576C>G (p.Ser192Arg) c.455C>G (p.Ala152Gly) c.*295C>G (n.*295C>G) c.64-1020G>C (n.64-1020G>C) c.319-1020G>C (n.319-1020G>C) c.456C>G (p.Ser152Arg) c.801C>G (p.Ser267Arg) c.*194G>C (n.*194G>C) n.818G>C | |
11 | g.72108625C>T | CA224375550 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>T (p.Ser159=) c.458C>T (p.Ala153Val) c.576C>T (p.Ser192=) c.455C>T (p.Ala152Val) c.*295C>T (n.*295C>T) c.64-1020G>A (n.64-1020G>A) c.319-1020G>A (n.319-1020G>A) c.456C>T (p.Ser152=) c.801C>T (p.Ser267=) c.*194G>A (n.*194G>A) n.818G>A | dbSNP gnomAD v4 |
11 | g.72108626T>A | CA381723696 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>A (p.Ser160Thr) c.459T>A (p.Ala153=) c.577T>A (p.Ser193Thr) c.456T>A (p.Ala152=) c.*296T>A (n.*296T>A) c.64-1021A>T (n.64-1021A>T) c.319-1021A>T (n.319-1021A>T) c.457T>A (p.Ser153Thr) c.802T>A (p.Ser268Thr) c.*193A>T (n.*193A>T) n.817A>T | |
11 | g.72108626T>C | CA381723700 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>C (p.Ser160Pro) c.459T>C (p.Ala153=) c.577T>C (p.Ser193Pro) c.456T>C (p.Ala152=) c.*296T>C (n.*296T>C) c.64-1021A>G (n.64-1021A>G) c.319-1021A>G (n.319-1021A>G) c.457T>C (p.Ser153Pro) c.802T>C (p.Ser268Pro) c.*193A>G (n.*193A>G) n.817A>G | gnomAD v4 |
11 | g.72108626T>G | CA381723705 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>G (p.Ser160Ala) c.459T>G (p.Ala153=) c.577T>G (p.Ser193Ala) c.456T>G (p.Ala152=) c.*296T>G (n.*296T>G) c.64-1021A>C (n.64-1021A>C) c.319-1021A>C (n.319-1021A>C) c.457T>G (p.Ser153Ala) c.802T>G (p.Ser268Ala) c.*193A>C (n.*193A>C) n.817A>C | |
11 | g.72108627C>A | CA381723719 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>A (p.Ser160Ter) c.460C>A (p.Gln154Lys) c.578C>A (p.Ser193Ter) c.457C>A (p.Gln153Lys) c.*297C>A (n.*297C>A) c.64-1022G>T (n.64-1022G>T) c.319-1022G>T (n.319-1022G>T) c.458C>A (p.Ser153Ter) c.803C>A (p.Ser268Ter) c.*192G>T (n.*192G>T) n.816G>T | |
11 | g.72108627C>G | CA381723728 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>G (p.Ser160Ter) c.460C>G (p.Gln154Glu) c.578C>G (p.Ser193Ter) c.457C>G (p.Gln153Glu) c.*297C>G (n.*297C>G) c.64-1022G>C (n.64-1022G>C) c.319-1022G>C (n.319-1022G>C) c.458C>G (p.Ser153Ter) c.803C>G (p.Ser268Ter) c.*192G>C (n.*192G>C) n.816G>C | |
11 | g.72108627C>T | CA381723715 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>T (p.Ser160Leu) c.460C>T (p.Gln154Ter) c.578C>T (p.Ser193Leu) c.457C>T (p.Gln153Ter) c.*297C>T (n.*297C>T) c.64-1022G>A (n.64-1022G>A) c.319-1022G>A (n.319-1022G>A) c.458C>T (p.Ser153Leu) c.803C>T (p.Ser268Leu) c.*192G>A (n.*192G>A) n.816G>A | |
11 | g.72108628A>C | CA381723750 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>C (p.Ser160=) c.461A>C (p.Gln154Pro) c.579A>C (p.Ser193=) c.458A>C (p.Gln153Pro) c.*298A>C (n.*298A>C) c.64-1023T>G (n.64-1023T>G) c.319-1023T>G (n.319-1023T>G) c.459A>C (p.Ser153=) c.804A>C (p.Ser268=) c.*191T>G (n.*191T>G) n.815T>G | gnomAD v4 |
11 | g.72108628A>G | CA381723755 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>G (p.Ser160=) c.461A>G (p.Gln154Arg) c.579A>G (p.Ser193=) c.458A>G (p.Gln153Arg) c.*298A>G (n.*298A>G) c.64-1023T>C (n.64-1023T>C) c.319-1023T>C (n.319-1023T>C) c.459A>G (p.Ser153=) c.804A>G (p.Ser268=) c.*191T>C (n.*191T>C) n.815T>C | |
11 | g.72108628A>T | CA381723757 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>T (p.Ser160=) c.461A>T (p.Gln154Leu) c.579A>T (p.Ser193=) c.458A>T (p.Gln153Leu) c.*298A>T (n.*298A>T) c.64-1023T>A (n.64-1023T>A) c.319-1023T>A (n.319-1023T>A) c.459A>T (p.Ser153=) c.804A>T (p.Ser268=) c.*191T>A (n.*191T>A) n.815T>A | |
11 | g.72108629G>A | CA381723771 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>A (p.Glu161Lys) c.462G>A (p.Gln154=) c.580G>A (p.Glu194Lys) c.459G>A (p.Gln153=) c.*299G>A (n.*299G>A) c.64-1024C>T (n.64-1024C>T) c.319-1024C>T (n.319-1024C>T) c.460G>A (p.Glu154Lys) c.805G>A (p.Glu269Lys) c.*190C>T (n.*190C>T) n.814C>T | gnomAD v4 |
11 | g.72108629G>C | CA381723778 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>C (p.Glu161Gln) c.462G>C (p.Gln154His) c.580G>C (p.Glu194Gln) c.459G>C (p.Gln153His) c.*299G>C (n.*299G>C) c.64-1024C>G (n.64-1024C>G) c.319-1024C>G (n.319-1024C>G) c.460G>C (p.Glu154Gln) c.805G>C (p.Glu269Gln) c.*190C>G (n.*190C>G) n.814C>G | |
11 | g.72108629G>T | CA381723783 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>T (p.Glu161Ter) c.462G>T (p.Gln154His) c.580G>T (p.Glu194Ter) c.459G>T (p.Gln153His) c.*299G>T (n.*299G>T) c.64-1024C>A (n.64-1024C>A) c.319-1024C>A (n.319-1024C>A) c.460G>T (p.Glu154Ter) c.805G>T (p.Glu269Ter) c.*190C>A (n.*190C>A) n.814C>A | gnomAD v4 |
11 | g.72108630A>C | CA381723792 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>C (p.Glu161Ala) c.463A>C (p.Arg155=) c.581A>C (p.Glu194Ala) c.460A>C (p.Arg154=) c.*300A>C (n.*300A>C) c.64-1025T>G (n.64-1025T>G) c.319-1025T>G (n.319-1025T>G) c.461A>C (p.Glu154Ala) c.806A>C (p.Glu269Ala) c.*189T>G (n.*189T>G) n.813T>G | |
11 | g.72108630A>G | CA381723794 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>G (p.Glu161Gly) c.463A>G (p.Arg155Gly) c.581A>G (p.Glu194Gly) c.460A>G (p.Arg154Gly) c.*300A>G (n.*300A>G) c.64-1025T>C (n.64-1025T>C) c.319-1025T>C (n.319-1025T>C) c.461A>G (p.Glu154Gly) c.806A>G (p.Glu269Gly) c.*189T>C (n.*189T>C) n.813T>C | |
11 | g.72108630A>T | CA381723795 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>T (p.Glu161Val) c.463A>T (p.Arg155Trp) c.581A>T (p.Glu194Val) c.460A>T (p.Arg154Trp) c.*300A>T (n.*300A>T) c.64-1025T>A (n.64-1025T>A) c.319-1025T>A (n.319-1025T>A) c.461A>T (p.Glu154Val) c.806A>T (p.Glu269Val) c.*189T>A (n.*189T>A) n.813T>A | |
11 | g.72108631G>A | CA381723799 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>A (p.Glu161=) c.464G>A (p.Arg155Lys) c.582G>A (p.Glu194=) c.461G>A (p.Arg154Lys) c.*301G>A (n.*301G>A) c.64-1026C>T (n.64-1026C>T) c.319-1026C>T (n.319-1026C>T) c.462G>A (p.Glu154=) c.807G>A (p.Glu269=) c.*188C>T (n.*188C>T) n.812C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108631G>C | CA381723807 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>C (p.Glu161Asp) c.464G>C (p.Arg155Thr) c.582G>C (p.Glu194Asp) c.461G>C (p.Arg154Thr) c.*301G>C (n.*301G>C) c.64-1026C>G (n.64-1026C>G) c.319-1026C>G (n.319-1026C>G) c.462G>C (p.Glu154Asp) c.807G>C (p.Glu269Asp) c.*188C>G (n.*188C>G) n.812C>G | |
11 | g.72108631G= | CA1981841025 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G= (p.Glu161=) c.464G= (p.Arg155=) c.582G= (p.Glu194=) c.461G= (p.Arg154=) c.*301G= (n.*301G=) c.64-1026C= (n.64-1026C=) c.319-1026C= (n.319-1026C=) c.462G= (p.Glu154=) c.807G= (p.Glu269=) c.*188C= (n.*188C=) n.812C= | |
11 | g.72108631G>T | CA381723811 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>T (p.Glu161Asp) c.464G>T (p.Arg155Met) c.582G>T (p.Glu194Asp) c.461G>T (p.Arg154Met) c.*301G>T (n.*301G>T) c.64-1026C>A (n.64-1026C>A) c.319-1026C>A (n.319-1026C>A) c.462G>T (p.Glu154Asp) c.807G>T (p.Glu269Asp) c.*188C>A (n.*188C>A) n.812C>A | gnomAD v4 |
11 | g.72108632G>A | CA381723820 | ANAPC15,LRRC51,LRTOMT,TOMT | c.484G>A (p.Asp162Asn) c.465G>A (p.Arg155=) c.583G>A (p.Asp195Asn) c.462G>A (p.Arg154=) c.*302G>A (n.*302G>A) c.64-1027C>T (n.64-1027C>T) c.319-1027C>T (n.319-1027C>T) c.463G>A (p.Asp155Asn) c.808G>A (p.Asp270Asn) c.*187C>T (n.*187C>T) n.811C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108632G>C | CA381723822 | ANAPC15,LRRC51,LRTOMT,TOMT | c.484G>C (p.Asp162His) c.465G>C (p.Arg155Ser) c.583G>C (p.Asp195His) c.462G>C (p.Arg154Ser) c.*302G>C (n.*302G>C) c.64-1027C>G (n.64-1027C>G) c.319-1027C>G (n.319-1027C>G) c.463G>C (p.Asp155His) c.808G>C (p.Asp270His) c.*187C>G (n.*187C>G) n.811C>G | |
11 | g.72108632G= | CA1981841026 | ANAPC15,LRRC51,LRTOMT,TOMT | c.484G= (p.Asp162=) c.465G= (p.Arg155=) c.583G= (p.Asp195=) c.462G= (p.Arg154=) c.*302G= (n.*302G=) c.64-1027C= (n.64-1027C=) c.319-1027C= (n.319-1027C=) c.463G= (p.Asp155=) c.808G= (p.Asp270=) c.*187C= (n.*187C=) n.811C= | |
11 | g.72108632G>T | CA381723818 | ANAPC15,LRRC51,LRTOMT,TOMT | c.484G>T (p.Asp162Tyr) c.465G>T (p.Arg155Ser) c.583G>T (p.Asp195Tyr) c.462G>T (p.Arg154Ser) c.*302G>T (n.*302G>T) c.64-1027C>A (n.64-1027C>A) c.319-1027C>A (n.319-1027C>A) c.463G>T (p.Asp155Tyr) c.808G>T (p.Asp270Tyr) c.*187C>A (n.*187C>A) n.811C>A | gnomAD v4 |
11 | g.72108633A>C | CA381723828 | ANAPC15,LRRC51,LRTOMT,TOMT | c.485A>C (p.Asp162Ala) c.466A>C (p.Thr156Pro) c.584A>C (p.Asp195Ala) c.463A>C (p.Thr155Pro) c.*303A>C (n.*303A>C) c.64-1028T>G (n.64-1028T>G) c.319-1028T>G (n.319-1028T>G) c.464A>C (p.Asp155Ala) c.809A>C (p.Asp270Ala) c.*186T>G (n.*186T>G) n.810T>G | |
11 | g.72108633A>G | CA381723836 | ANAPC15,LRRC51,LRTOMT,TOMT | c.485A>G (p.Asp162Gly) c.466A>G (p.Thr156Ala) c.584A>G (p.Asp195Gly) c.463A>G (p.Thr155Ala) c.*303A>G (n.*303A>G) c.64-1028T>C (n.64-1028T>C) c.319-1028T>C (n.319-1028T>C) c.464A>G (p.Asp155Gly) c.809A>G (p.Asp270Gly) c.*186T>C (n.*186T>C) n.810T>C | gnomAD v4 COSMIC |
11 | g.72108633A>T | CA381723839 | ANAPC15,LRRC51,LRTOMT,TOMT | c.485A>T (p.Asp162Val) c.466A>T (p.Thr156Ser) c.584A>T (p.Asp195Val) c.463A>T (p.Thr155Ser) c.*303A>T (n.*303A>T) c.64-1028T>A (n.64-1028T>A) c.319-1028T>A (n.319-1028T>A) c.464A>T (p.Asp155Val) c.809A>T (p.Asp270Val) c.*186T>A (n.*186T>A) n.810T>A | |
11 | g.72108634C>A | CA381723843 | ANAPC15,LRRC51,LRTOMT,TOMT | c.486C>A (p.Asp162Glu) c.467C>A (p.Thr156Lys) c.585C>A (p.Asp195Glu) c.464C>A (p.Thr155Lys) c.*304C>A (n.*304C>A) c.64-1029G>T (n.64-1029G>T) c.319-1029G>T (n.319-1029G>T) c.465C>A (p.Asp155Glu) c.810C>A (p.Asp270Glu) c.*185G>T (n.*185G>T) n.809G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108634C= | CA1981841027 | ANAPC15,LRRC51,LRTOMT,TOMT | c.486C= (p.Asp162=) c.467C= (p.Thr156=) c.585C= (p.Asp195=) c.464C= (p.Thr155=) c.*304C= (n.*304C=) c.64-1029G= (n.64-1029G=) c.319-1029G= (n.319-1029G=) c.465C= (p.Asp155=) c.810C= (p.Asp270=) c.*185G= (n.*185G=) n.809G= | |
11 | g.72108634C>G | CA381723850 | ANAPC15,LRRC51,LRTOMT,TOMT | c.486C>G (p.Asp162Glu) c.467C>G (p.Thr156Arg) c.585C>G (p.Asp195Glu) c.464C>G (p.Thr155Arg) c.*304C>G (n.*304C>G) c.64-1029G>C (n.64-1029G>C) c.319-1029G>C (n.319-1029G>C) c.465C>G (p.Asp155Glu) c.810C>G (p.Asp270Glu) c.*185G>C (n.*185G>C) n.809G>C | |
11 | g.72108634C>T | CA6168631 | ANAPC15,LRRC51,LRTOMT,TOMT | c.486C>T (p.Asp162=) c.467C>T (p.Thr156Met) c.585C>T (p.Asp195=) c.464C>T (p.Thr155Met) c.*304C>T (n.*304C>T) c.64-1029G>A (n.64-1029G>A) c.319-1029G>A (n.319-1029G>A) c.465C>T (p.Asp155=) c.810C>T (p.Asp270=) c.*185G>A (n.*185G>A) n.809G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108635G>A | CA381723860 | ANAPC15,LRRC51,LRTOMT,TOMT | c.487G>A (p.Val163Met) c.468G>A (p.Thr156=) c.586G>A (p.Val196Met) c.465G>A (p.Thr155=) c.*305G>A (n.*305G>A) c.64-1030C>T (n.64-1030C>T) c.319-1030C>T (n.319-1030C>T) c.466G>A (p.Val156Met) c.811G>A (p.Val271Met) c.*184C>T (n.*184C>T) n.808C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108635G>C | CA381723864 | ANAPC15,LRRC51,LRTOMT,TOMT | c.487G>C (p.Val163Leu) c.468G>C (p.Thr156=) c.586G>C (p.Val196Leu) c.465G>C (p.Thr155=) c.*305G>C (n.*305G>C) c.64-1030C>G (n.64-1030C>G) c.319-1030C>G (n.319-1030C>G) c.466G>C (p.Val156Leu) c.811G>C (p.Val271Leu) c.*184C>G (n.*184C>G) n.808C>G | gnomAD v4 |
11 | g.72108635G= | CA1981841028 | ANAPC15,LRRC51,LRTOMT,TOMT | c.487G= (p.Val163=) c.468G= (p.Thr156=) c.586G= (p.Val196=) c.465G= (p.Thr155=) c.*305G= (n.*305G=) c.64-1030C= (n.64-1030C=) c.319-1030C= (n.319-1030C=) c.466G= (p.Val156=) c.811G= (p.Val271=) c.*184C= (n.*184C=) n.808C= | |
11 | g.72108635G>T | CA381723862 | ANAPC15,LRRC51,LRTOMT,TOMT | c.487G>T (p.Val163Leu) c.468G>T (p.Thr156=) c.586G>T (p.Val196Leu) c.465G>T (p.Thr155=) c.*305G>T (n.*305G>T) c.64-1030C>A (n.64-1030C>A) c.319-1030C>A (n.319-1030C>A) c.466G>T (p.Val156Leu) c.811G>T (p.Val271Leu) c.*184C>A (n.*184C>A) n.808C>A | gnomAD v4 |
11 | g.72108636T>A | CA381723869 | ANAPC15,LRRC51,LRTOMT,TOMT | c.488T>A (p.Val163Glu) c.469T>A (p.Ter157Arg) c.587T>A (p.Val196Glu) c.466T>A (p.Ter156Arg) c.*306T>A (n.*306T>A) c.64-1031A>T (n.64-1031A>T) c.319-1031A>T (n.319-1031A>T) c.467T>A (p.Val156Glu) c.812T>A (p.Val271Glu) c.*183A>T (n.*183A>T) n.807A>T | |
11 | g.72108636T>C | CA381723872 | ANAPC15,LRRC51,LRTOMT,TOMT | c.488T>C (p.Val163Ala) c.469T>C (p.Ter157Arg) c.587T>C (p.Val196Ala) c.466T>C (p.Ter156Arg) c.*306T>C (n.*306T>C) c.64-1031A>G (n.64-1031A>G) c.319-1031A>G (n.319-1031A>G) c.467T>C (p.Val156Ala) c.812T>C (p.Val271Ala) c.*183A>G (n.*183A>G) n.807A>G | gnomAD v4 |
11 | g.72108636T>G | CA381723874 | ANAPC15,LRRC51,LRTOMT,TOMT | c.488T>G (p.Val163Gly) c.469T>G (p.Ter157Gly) c.587T>G (p.Val196Gly) c.466T>G (p.Ter156Gly) c.*306T>G (n.*306T>G) c.64-1031A>C (n.64-1031A>C) c.319-1031A>C (n.319-1031A>C) c.467T>G (p.Val156Gly) c.812T>G (p.Val271Gly) c.*183A>C (n.*183A>C) n.807A>C | |
11 | g.72108637G>A | CA475592477 | ANAPC15,LRRC51,LRTOMT,TOMT | c.489G>A (p.Val163=) c.470G>A (p.Ter157=) c.588G>A (p.Val196=) c.467G>A (p.Ter156=) c.*307G>A (n.*307G>A) c.64-1032C>T (n.64-1032C>T) c.319-1032C>T (n.319-1032C>T) c.468G>A (p.Val156=) c.813G>A (p.Val271=) c.*182C>T (n.*182C>T) n.806C>T | |
11 | g.72108637G>C | CA381723879 | ANAPC15,LRRC51,LRTOMT,TOMT | c.489G>C (p.Val163=) c.470G>C (p.Ter157Ser) c.588G>C (p.Val196=) c.467G>C (p.Ter156Ser) c.*307G>C (n.*307G>C) c.64-1032C>G (n.64-1032C>G) c.319-1032C>G (n.319-1032C>G) c.468G>C (p.Val156=) c.813G>C (p.Val271=) c.*182C>G (n.*182C>G) n.806C>G | |
11 | g.72108637G>T | CA381723884 | ANAPC15,LRRC51,LRTOMT,TOMT | c.489G>T (p.Val163=) c.470G>T (p.Ter157Leu) c.588G>T (p.Val196=) c.467G>T (p.Ter156Leu) c.*307G>T (n.*307G>T) c.64-1032C>A (n.64-1032C>A) c.319-1032C>A (n.319-1032C>A) c.468G>T (p.Val156=) c.813G>T (p.Val271=) c.*182C>A (n.*182C>A) n.806C>A | |
11 | g.72108638A>C | CA381723886 | ANAPC15,LRRC51,LRTOMT,TOMT | c.490A>C (p.Ile164Leu) c.471A>C (p.Ter157Cys) c.589A>C (p.Ile197Leu) c.468A>C (p.Ter156Cys) c.*308A>C (n.*308A>C) c.64-1033T>G (n.64-1033T>G) c.319-1033T>G (n.319-1033T>G) c.469A>C (p.Ile157Leu) c.814A>C (p.Ile272Leu) c.*181T>G (n.*181T>G) n.805T>G | |
11 | g.72108638A>G | CA381723891 | ANAPC15,LRRC51,LRTOMT,TOMT | c.490A>G (p.Ile164Val) c.471A>G (p.Ter157Trp) c.589A>G (p.Ile197Val) c.468A>G (p.Ter156Trp) c.*308A>G (n.*308A>G) c.64-1033T>C (n.64-1033T>C) c.319-1033T>C (n.319-1033T>C) c.469A>G (p.Ile157Val) c.814A>G (p.Ile272Val) c.*181T>C (n.*181T>C) n.805T>C | |
11 | g.72108638A>T | CA381723885 | ANAPC15,LRRC51,LRTOMT,TOMT | c.490A>T (p.Ile164Phe) c.471A>T (p.Ter157Cys) c.589A>T (p.Ile197Phe) c.468A>T (p.Ter156Cys) c.*308A>T (n.*308A>T) c.64-1033T>A (n.64-1033T>A) c.319-1033T>A (n.319-1033T>A) c.469A>T (p.Ile157Phe) c.814A>T (p.Ile272Phe) c.*181T>A (n.*181T>A) n.805T>A | |
11 | g.72108639T>A | CA381723892 | ANAPC15,LRRC51,LRTOMT,TOMT | c.491T>A (p.Ile164Asn) c.*1T>A (n.*1T>A) c.590T>A (p.Ile197Asn) c.*309T>A (n.*309T>A) c.64-1034A>T (n.64-1034A>T) c.319-1034A>T (n.319-1034A>T) c.470T>A (p.Ile157Asn) c.815T>A (p.Ile272Asn) c.*180A>T (n.*180A>T) n.804A>T | gnomAD v4 |
11 | g.72108639T>C | CA224375559 | ANAPC15,LRRC51,LRTOMT,TOMT | c.491T>C (p.Ile164Thr) c.*1T>C (n.*1T>C) c.590T>C (p.Ile197Thr) c.*309T>C (n.*309T>C) c.64-1034A>G (n.64-1034A>G) c.319-1034A>G (n.319-1034A>G) c.470T>C (p.Ile157Thr) c.815T>C (p.Ile272Thr) c.*180A>G (n.*180A>G) n.804A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108639T>G | CA381723894 | ANAPC15,LRRC51,LRTOMT,TOMT | c.491T>G (p.Ile164Ser) c.*1T>G (n.*1T>G) c.590T>G (p.Ile197Ser) c.*309T>G (n.*309T>G) c.64-1034A>C (n.64-1034A>C) c.319-1034A>C (n.319-1034A>C) c.470T>G (p.Ile157Ser) c.815T>G (p.Ile272Ser) c.*180A>C (n.*180A>C) n.804A>C | |
11 | g.72108639T= | CA1981841029 | ANAPC15,LRRC51,LRTOMT,TOMT | c.491T= (p.Ile164=) c.*1T= (n.*1T=) c.590T= (p.Ile197=) c.*309T= (n.*309T=) c.64-1034A= (n.64-1034A=) c.319-1034A= (n.319-1034A=) c.470T= (p.Ile157=) c.815T= (p.Ile272=) c.*180A= (n.*180A=) n.804A= | |
11 | g.72108640C>A | CA475592480 | ANAPC15,LRRC51,LRTOMT,TOMT | c.492C>A (p.Ile164=) c.*2C>A (n.*2C>A) c.591C>A (p.Ile197=) c.*310C>A (n.*310C>A) c.64-1035G>T (n.64-1035G>T) c.319-1035G>T (n.319-1035G>T) c.471C>A (p.Ile157=) c.816C>A (p.Ile272=) c.*179G>T (n.*179G>T) n.803G>T | |
11 | g.72108640C>G | CA381723902 | ANAPC15,LRRC51,LRTOMT,TOMT | c.492C>G (p.Ile164Met) c.*2C>G (n.*2C>G) c.591C>G (p.Ile197Met) c.*310C>G (n.*310C>G) c.64-1035G>C (n.64-1035G>C) c.319-1035G>C (n.319-1035G>C) c.471C>G (p.Ile157Met) c.816C>G (p.Ile272Met) c.*179G>C (n.*179G>C) n.803G>C | gnomAD v4 |
11 | g.72108640C>T | CA475592481 | ANAPC15,LRRC51,LRTOMT,TOMT | c.492C>T (p.Ile164=) c.*2C>T (n.*2C>T) c.591C>T (p.Ile197=) c.*310C>T (n.*310C>T) c.64-1035G>A (n.64-1035G>A) c.319-1035G>A (n.319-1035G>A) c.471C>T (p.Ile157=) c.816C>T (p.Ile272=) c.*179G>A (n.*179G>A) n.803G>A | |
11 | g.72108642del | CA2614921588 | ANAPC15,LRRC51,LRTOMT,TOMT | c.494del (p.Pro165ArgfsTer9) c.*4del (n.*4del) c.593del (p.Pro198ArgfsTer9) c.*312del (n.*312del) c.64-1035del (n.64-1035del) c.319-1035del (n.319-1035del) c.473del (p.Pro158ArgfsTer9) c.818del (p.Pro273ArgfsTer9) c.*179del (n.*179del) n.803del | gnomAD v4 |
11 | g.72108641C>A | CA381723931 | ANAPC15,LRRC51,LRTOMT,TOMT | c.493C>A (p.Pro165Thr) c.*3C>A (n.*3C>A) c.592C>A (p.Pro198Thr) c.*311C>A (n.*311C>A) c.64-1036G>T (n.64-1036G>T) c.319-1036G>T (n.319-1036G>T) c.472C>A (p.Pro158Thr) c.817C>A (p.Pro273Thr) c.*178G>T (n.*178G>T) n.802G>T | |
11 | g.72108641C= | CA1981841030 | ANAPC15,LRRC51,LRTOMT,TOMT | c.493C= (p.Pro165=) c.*3C= (n.*3C=) c.592C= (p.Pro198=) c.*311C= (n.*311C=) c.64-1036G= (n.64-1036G=) c.319-1036G= (n.319-1036G=) c.472C= (p.Pro158=) c.817C= (p.Pro273=) c.*178G= (n.*178G=) n.802G= | |
11 | g.72108641C>G | CA381723927 | ANAPC15,LRRC51,LRTOMT,TOMT | c.493C>G (p.Pro165Ala) c.*3C>G (n.*3C>G) c.592C>G (p.Pro198Ala) c.*311C>G (n.*311C>G) c.64-1036G>C (n.64-1036G>C) c.319-1036G>C (n.319-1036G>C) c.472C>G (p.Pro158Ala) c.817C>G (p.Pro273Ala) c.*178G>C (n.*178G>C) n.802G>C | gnomAD v4 |
11 | g.72108641C>T | CA10640066 | ANAPC15,LRRC51,LRTOMT,TOMT | c.493C>T (p.Pro165Ser) c.*3C>T (n.*3C>T) c.592C>T (p.Pro198Ser) c.*311C>T (n.*311C>T) c.64-1036G>A (n.64-1036G>A) c.319-1036G>A (n.319-1036G>A) c.472C>T (p.Pro158Ser) c.817C>T (p.Pro273Ser) c.*178G>A (n.*178G>A) n.802G>A | ClinVar dbSNP gnomAD v4 |
11 | g.72108642C>A | CA381723935 | ANAPC15,LRRC51,LRTOMT,TOMT | c.494C>A (p.Pro165Gln) c.*4C>A (n.*4C>A) c.593C>A (p.Pro198Gln) c.*312C>A (n.*312C>A) c.64-1037G>T (n.64-1037G>T) c.319-1037G>T (n.319-1037G>T) c.473C>A (p.Pro158Gln) c.818C>A (p.Pro273Gln) c.*177G>T (n.*177G>T) n.801G>T | gnomAD v4 |
11 | g.72108642C= | CA1981841031 | ANAPC15,LRRC51,LRTOMT,TOMT | c.494C= (p.Pro165=) c.*4C= (n.*4C=) c.593C= (p.Pro198=) c.*312C= (n.*312C=) c.64-1037G= (n.64-1037G=) c.319-1037G= (n.319-1037G=) c.473C= (p.Pro158=) c.818C= (p.Pro273=) c.*177G= (n.*177G=) n.801G= | |
11 | g.72108642C>G | CA381723936 | ANAPC15,LRRC51,LRTOMT,TOMT | c.494C>G (p.Pro165Arg) c.*4C>G (n.*4C>G) c.593C>G (p.Pro198Arg) c.*312C>G (n.*312C>G) c.64-1037G>C (n.64-1037G>C) c.319-1037G>C (n.319-1037G>C) c.473C>G (p.Pro158Arg) c.818C>G (p.Pro273Arg) c.*177G>C (n.*177G>C) n.801G>C | |
11 | g.72108642C>T | CA6168632 | ANAPC15,LRRC51,LRTOMT,TOMT | c.494C>T (p.Pro165Leu) c.*4C>T (n.*4C>T) c.593C>T (p.Pro198Leu) c.*312C>T (n.*312C>T) c.64-1037G>A (n.64-1037G>A) c.319-1037G>A (n.319-1037G>A) c.473C>T (p.Pro158Leu) c.818C>T (p.Pro273Leu) c.*177G>A (n.*177G>A) n.801G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108643G>A | CA224375573 | ANAPC15,LRRC51,LRTOMT,TOMT | c.495G>A (p.Pro165=) c.*5G>A (n.*5G>A) c.594G>A (p.Pro198=) c.*313G>A (n.*313G>A) c.64-1038C>T (n.64-1038C>T) c.319-1038C>T (n.319-1038C>T) c.474G>A (p.Pro158=) c.819G>A (p.Pro273=) c.*176C>T (n.*176C>T) n.800C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108643G>C | CA6168633 | ANAPC15,LRRC51,LRTOMT,TOMT | c.495G>C (p.Pro165=) c.*5G>C (n.*5G>C) c.594G>C (p.Pro198=) c.*313G>C (n.*313G>C) c.64-1038C>G (n.64-1038C>G) c.319-1038C>G (n.319-1038C>G) c.474G>C (p.Pro158=) c.819G>C (p.Pro273=) c.*176C>G (n.*176C>G) n.800C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108643G= | CA1981841032 | ANAPC15,LRRC51,LRTOMT,TOMT | c.495G= (p.Pro165=) c.*5G= (n.*5G=) c.594G= (p.Pro198=) c.*313G= (n.*313G=) c.64-1038C= (n.64-1038C=) c.319-1038C= (n.319-1038C=) c.474G= (p.Pro158=) c.819G= (p.Pro273=) c.*176C= (n.*176C=) n.800C= | |
11 | g.72108643G>T | CA475592482 | ANAPC15,LRRC51,LRTOMT,TOMT | c.495G>T (p.Pro165=) c.*5G>T (n.*5G>T) c.594G>T (p.Pro198=) c.*313G>T (n.*313G>T) c.64-1038C>A (n.64-1038C>A) c.319-1038C>A (n.319-1038C>A) c.474G>T (p.Pro158=) c.819G>T (p.Pro273=) c.*176C>A (n.*176C>A) n.800C>A | |
11 | g.72108644T>A | CA381723974 | ANAPC15,LRRC51,LRTOMT,TOMT | c.496T>A (p.Cys166Ser) c.*6T>A (n.*6T>A) c.595T>A (p.Cys199Ser) c.*314T>A (n.*314T>A) c.64-1039A>T (n.64-1039A>T) c.319-1039A>T (n.319-1039A>T) c.475T>A (p.Cys159Ser) c.820T>A (p.Cys274Ser) c.*175A>T (n.*175A>T) n.799A>T | |
11 | g.72108644T>C | CA381723973 | ANAPC15,LRRC51,LRTOMT,TOMT | c.496T>C (p.Cys166Arg) c.*6T>C (n.*6T>C) c.595T>C (p.Cys199Arg) c.*314T>C (n.*314T>C) c.64-1039A>G (n.64-1039A>G) c.319-1039A>G (n.319-1039A>G) c.475T>C (p.Cys159Arg) c.820T>C (p.Cys274Arg) c.*175A>G (n.*175A>G) n.799A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108644T>G | CA381723972 | ANAPC15,LRRC51,LRTOMT,TOMT | c.496T>G (p.Cys166Gly) c.*6T>G (n.*6T>G) c.595T>G (p.Cys199Gly) c.*314T>G (n.*314T>G) c.64-1039A>C (n.64-1039A>C) c.319-1039A>C (n.319-1039A>C) c.475T>G (p.Cys159Gly) c.820T>G (p.Cys274Gly) c.*175A>C (n.*175A>C) n.799A>C | gnomAD v4 |
11 | g.72108644T= | CA1981841033 | ANAPC15,LRRC51,LRTOMT,TOMT | c.496T= (p.Cys166=) c.*6T= (n.*6T=) c.595T= (p.Cys199=) c.*314T= (n.*314T=) c.64-1039A= (n.64-1039A=) c.319-1039A= (n.319-1039A=) c.475T= (p.Cys159=) c.820T= (p.Cys274=) c.*175A= (n.*175A=) n.799A= | |
11 | g.72108645G>A | CA381723977 | ANAPC15,LRRC51,LRTOMT,TOMT | c.497G>A (p.Cys166Tyr) c.*7G>A (n.*7G>A) c.596G>A (p.Cys199Tyr) c.*315G>A (n.*315G>A) c.64-1040C>T (n.64-1040C>T) c.319-1040C>T (n.319-1040C>T) c.476G>A (p.Cys159Tyr) c.821G>A (p.Cys274Tyr) c.*174C>T (n.*174C>T) n.798C>T | gnomAD v4 |
11 | g.72108645G>C | CA381723980 | ANAPC15,LRRC51,LRTOMT,TOMT | c.497G>C (p.Cys166Ser) c.*7G>C (n.*7G>C) c.596G>C (p.Cys199Ser) c.*315G>C (n.*315G>C) c.64-1040C>G (n.64-1040C>G) c.319-1040C>G (n.319-1040C>G) c.476G>C (p.Cys159Ser) c.821G>C (p.Cys274Ser) c.*174C>G (n.*174C>G) n.798C>G | |
11 | g.72108645G>T | CA381723993 | ANAPC15,LRRC51,LRTOMT,TOMT | c.497G>T (p.Cys166Phe) c.*7G>T (n.*7G>T) c.596G>T (p.Cys199Phe) c.*315G>T (n.*315G>T) c.64-1040C>A (n.64-1040C>A) c.319-1040C>A (n.319-1040C>A) c.476G>T (p.Cys159Phe) c.821G>T (p.Cys274Phe) c.*174C>A (n.*174C>A) n.798C>A | gnomAD v4 |
11 | g.72108646C>A | CA381723997 | ANAPC15,LRRC51,LRTOMT,TOMT | c.498C>A (p.Cys166Ter) c.*8C>A (n.*8C>A) c.597C>A (p.Cys199Ter) c.*316C>A (n.*316C>A) c.64-1041G>T (n.64-1041G>T) c.319-1041G>T (n.319-1041G>T) c.477C>A (p.Cys159Ter) c.822C>A (p.Cys274Ter) c.*173G>T (n.*173G>T) n.797G>T | |
11 | g.72108646C>G | CA381724009 | ANAPC15,LRRC51,LRTOMT,TOMT | c.498C>G (p.Cys166Trp) c.*8C>G (n.*8C>G) c.597C>G (p.Cys199Trp) c.*316C>G (n.*316C>G) c.64-1041G>C (n.64-1041G>C) c.319-1041G>C (n.319-1041G>C) c.477C>G (p.Cys159Trp) c.822C>G (p.Cys274Trp) c.*173G>C (n.*173G>C) n.797G>C | |
11 | g.72108646C>T | CA475592484 | ANAPC15,LRRC51,LRTOMT,TOMT | c.498C>T (p.Cys166=) c.*8C>T (n.*8C>T) c.597C>T (p.Cys199=) c.*316C>T (n.*316C>T) c.64-1041G>A (n.64-1041G>A) c.319-1041G>A (n.319-1041G>A) c.477C>T (p.Cys159=) c.822C>T (p.Cys274=) c.*173G>A (n.*173G>A) n.797G>A | gnomAD v4 |
11 | g.72108647C>A | CA381724018 | ANAPC15,LRRC51,LRTOMT,TOMT | c.499C>A (p.Leu167Ile) c.*9C>A (n.*9C>A) c.598C>A (p.Leu200Ile) c.*317C>A (n.*317C>A) c.64-1042G>T (n.64-1042G>T) c.319-1042G>T (n.319-1042G>T) c.478C>A (p.Leu160Ile) c.823C>A (p.Leu275Ile) c.*172G>T (n.*172G>T) n.796G>T | |
11 | g.72108647C= | CA1981841034 | ANAPC15,LRRC51,LRTOMT,TOMT | c.499C= (p.Leu167=) c.*9C= (n.*9C=) c.598C= (p.Leu200=) c.*317C= (n.*317C=) c.64-1042G= (n.64-1042G=) c.319-1042G= (n.319-1042G=) c.478C= (p.Leu160=) c.823C= (p.Leu275=) c.*172G= (n.*172G=) n.796G= | |
11 | g.72108647C>G | CA381724022 | ANAPC15,LRRC51,LRTOMT,TOMT | c.499C>G (p.Leu167Val) c.*9C>G (n.*9C>G) c.598C>G (p.Leu200Val) c.*317C>G (n.*317C>G) c.64-1042G>C (n.64-1042G>C) c.319-1042G>C (n.319-1042G>C) c.478C>G (p.Leu160Val) c.823C>G (p.Leu275Val) c.*172G>C (n.*172G>C) n.796G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108647C>T | CA475592488 | ANAPC15,LRRC51,LRTOMT,TOMT | c.499C>T (p.Leu167=) c.*9C>T (n.*9C>T) c.598C>T (p.Leu200=) c.*317C>T (n.*317C>T) c.64-1042G>A (n.64-1042G>A) c.319-1042G>A (n.319-1042G>A) c.478C>T (p.Leu160=) c.823C>T (p.Leu275=) c.*172G>A (n.*172G>A) n.796G>A | gnomAD v4 |
11 | g.72108648T>A | CA381724025 | ANAPC15,LRRC51,LRTOMT,TOMT | c.500T>A (p.Leu167Gln) c.*10T>A (n.*10T>A) c.599T>A (p.Leu200Gln) c.*318T>A (n.*318T>A) c.64-1043A>T (n.64-1043A>T) c.319-1043A>T (n.319-1043A>T) c.479T>A (p.Leu160Gln) c.824T>A (p.Leu275Gln) c.*171A>T (n.*171A>T) n.795A>T | |
11 | g.72108648T>C | CA381724032 | ANAPC15,LRRC51,LRTOMT,TOMT | c.500T>C (p.Leu167Pro) c.*10T>C (n.*10T>C) c.599T>C (p.Leu200Pro) c.*318T>C (n.*318T>C) c.64-1043A>G (n.64-1043A>G) c.319-1043A>G (n.319-1043A>G) c.479T>C (p.Leu160Pro) c.824T>C (p.Leu275Pro) c.*171A>G (n.*171A>G) n.795A>G | gnomAD v4 |
11 | g.72108648T>G | CA381724031 | ANAPC15,LRRC51,LRTOMT,TOMT | c.500T>G (p.Leu167Arg) c.*10T>G (n.*10T>G) c.599T>G (p.Leu200Arg) c.*318T>G (n.*318T>G) c.64-1043A>C (n.64-1043A>C) c.319-1043A>C (n.319-1043A>C) c.479T>G (p.Leu160Arg) c.824T>G (p.Leu275Arg) c.*171A>C (n.*171A>C) n.795A>C | |
11 | g.72108649A>C | CA475592491 | ANAPC15,LRRC51,LRTOMT,TOMT | c.501A>C (p.Leu167=) c.*11A>C (n.*11A>C) c.600A>C (p.Leu200=) c.*319A>C (n.*319A>C) c.64-1044T>G (n.64-1044T>G) c.319-1044T>G (n.319-1044T>G) c.480A>C (p.Leu160=) c.825A>C (p.Leu275=) c.*170T>G (n.*170T>G) n.794T>G | gnomAD v4 |
11 | g.72108649A>G | CA475592490 | ANAPC15,LRRC51,LRTOMT,TOMT | c.501A>G (p.Leu167=) c.*11A>G (n.*11A>G) c.600A>G (p.Leu200=) c.*319A>G (n.*319A>G) c.64-1044T>C (n.64-1044T>C) c.319-1044T>C (n.319-1044T>C) c.480A>G (p.Leu160=) c.825A>G (p.Leu275=) c.*170T>C (n.*170T>C) n.794T>C | |
11 | g.72108649A>T | CA475592489 | ANAPC15,LRRC51,LRTOMT,TOMT | c.501A>T (p.Leu167=) c.*11A>T (n.*11A>T) c.600A>T (p.Leu200=) c.*319A>T (n.*319A>T) c.64-1044T>A (n.64-1044T>A) c.319-1044T>A (n.319-1044T>A) c.480A>T (p.Leu160=) c.825A>T (p.Leu275=) c.*170T>A (n.*170T>A) n.794T>A | |
11 | g.72108650C>A | CA381724035 | ANAPC15,LRRC51,LRTOMT,TOMT | c.502C>A (p.Arg168Ser) c.*12C>A (n.*12C>A) c.601C>A (p.Arg201Ser) c.*320C>A (n.*320C>A) c.64-1045G>T (n.64-1045G>T) c.319-1045G>T (n.319-1045G>T) c.481C>A (p.Arg161Ser) c.826C>A (p.Arg276Ser) c.*169G>T (n.*169G>T) n.793G>T | gnomAD v4 |
11 | g.72108650C= | CA1981841035 | ANAPC15,LRRC51,LRTOMT,TOMT | c.502C= (p.Arg168=) c.*12C= (n.*12C=) c.601C= (p.Arg201=) c.*320C= (n.*320C=) c.64-1045G= (n.64-1045G=) c.319-1045G= (n.319-1045G=) c.481C= (p.Arg161=) c.826C= (p.Arg276=) c.*169G= (n.*169G=) n.793G= | |
11 | g.72108650C>G | CA381724043 | ANAPC15,LRRC51,LRTOMT,TOMT | c.502C>G (p.Arg168Gly) c.*12C>G (n.*12C>G) c.601C>G (p.Arg201Gly) c.*320C>G (n.*320C>G) c.64-1045G>C (n.64-1045G>C) c.319-1045G>C (n.319-1045G>C) c.481C>G (p.Arg161Gly) c.826C>G (p.Arg276Gly) c.*169G>C (n.*169G>C) n.793G>C | gnomAD v4 |
11 | g.72108650C>T | CA224375574 | ANAPC15,LRRC51,LRTOMT,TOMT | c.502C>T (p.Arg168Cys) c.*12C>T (n.*12C>T) c.601C>T (p.Arg201Cys) c.*320C>T (n.*320C>T) c.64-1045G>A (n.64-1045G>A) c.319-1045G>A (n.319-1045G>A) c.481C>T (p.Arg161Cys) c.826C>T (p.Arg276Cys) c.*169G>A (n.*169G>A) n.793G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108651G>A | CA381724048 | ANAPC15,LRRC51,LRTOMT,TOMT | c.503G>A (p.Arg168His) c.*13G>A (n.*13G>A) c.602G>A (p.Arg201His) c.*321G>A (n.*321G>A) c.64-1046C>T (n.64-1046C>T) c.319-1046C>T (n.319-1046C>T) c.482G>A (p.Arg161His) c.827G>A (p.Arg276His) c.*168C>T (n.*168C>T) n.792C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108651G>C | CA381724049 | ANAPC15,LRRC51,LRTOMT,TOMT | c.503G>C (p.Arg168Pro) c.*13G>C (n.*13G>C) c.602G>C (p.Arg201Pro) c.*321G>C (n.*321G>C) c.64-1046C>G (n.64-1046C>G) c.319-1046C>G (n.319-1046C>G) c.482G>C (p.Arg161Pro) c.827G>C (p.Arg276Pro) c.*168C>G (n.*168C>G) n.792C>G | dbSNP gnomAD v4 |
11 | g.72108651G= | CA1981841036 | ANAPC15,LRRC51,LRTOMT,TOMT | c.503G= (p.Arg168=) c.*13G= (n.*13G=) c.602G= (p.Arg201=) c.*321G= (n.*321G=) c.64-1046C= (n.64-1046C=) c.319-1046C= (n.319-1046C=) c.482G= (p.Arg161=) c.827G= (p.Arg276=) c.*168C= (n.*168C=) n.792C= | |
11 | g.72108651G>T | CA381724051 | ANAPC15,LRRC51,LRTOMT,TOMT | c.503G>T (p.Arg168Leu) c.*13G>T (n.*13G>T) c.602G>T (p.Arg201Leu) c.*321G>T (n.*321G>T) c.64-1046C>A (n.64-1046C>A) c.319-1046C>A (n.319-1046C>A) c.482G>T (p.Arg161Leu) c.827G>T (p.Arg276Leu) c.*168C>A (n.*168C>A) n.792C>A | gnomAD v4 |
11 | g.72108652C>A | CA475592493 | ANAPC15,LRRC51,LRTOMT,TOMT | c.504C>A (p.Arg168=) c.*14C>A (n.*14C>A) c.603C>A (p.Arg201=) c.*322C>A (n.*322C>A) c.64-1047G>T (n.64-1047G>T) c.319-1047G>T (n.319-1047G>T) c.483C>A (p.Arg161=) c.828C>A (p.Arg276=) c.*167G>T (n.*167G>T) n.791G>T | |
11 | g.72108652C>G | CA475592494 | ANAPC15,LRRC51,LRTOMT,TOMT | c.504C>G (p.Arg168=) c.*14C>G (n.*14C>G) c.603C>G (p.Arg201=) c.*322C>G (n.*322C>G) c.64-1047G>C (n.64-1047G>C) c.319-1047G>C (n.319-1047G>C) c.483C>G (p.Arg161=) c.828C>G (p.Arg276=) c.*167G>C (n.*167G>C) n.791G>C | |
11 | g.72108652C>T | CA475592495 | ANAPC15,LRRC51,LRTOMT,TOMT | c.504C>T (p.Arg168=) c.*14C>T (n.*14C>T) c.603C>T (p.Arg201=) c.*322C>T (n.*322C>T) c.64-1047G>A (n.64-1047G>A) c.319-1047G>A (n.319-1047G>A) c.483C>T (p.Arg161=) c.828C>T (p.Arg276=) c.*167G>A (n.*167G>A) n.791G>A | gnomAD v4 |
11 | g.72108653A>C | CA381724056 | ANAPC15,LRRC51,LRTOMT,TOMT | c.505A>C (p.Thr169Pro) c.*15A>C (n.*15A>C) c.604A>C (p.Thr202Pro) c.*323A>C (n.*323A>C) c.64-1048T>G (n.64-1048T>G) c.319-1048T>G (n.319-1048T>G) c.484A>C (p.Thr162Pro) c.829A>C (p.Thr277Pro) c.*166T>G (n.*166T>G) n.790T>G | |
11 | g.72108653A>G | CA381724062 | ANAPC15,LRRC51,LRTOMT,TOMT | c.505A>G (p.Thr169Ala) c.*15A>G (n.*15A>G) c.604A>G (p.Thr202Ala) c.*323A>G (n.*323A>G) c.64-1048T>C (n.64-1048T>C) c.319-1048T>C (n.319-1048T>C) c.484A>G (p.Thr162Ala) c.829A>G (p.Thr277Ala) c.*166T>C (n.*166T>C) n.790T>C | |
11 | g.72108653A>T | CA381724076 | ANAPC15,LRRC51,LRTOMT,TOMT | c.505A>T (p.Thr169Ser) c.*15A>T (n.*15A>T) c.604A>T (p.Thr202Ser) c.*323A>T (n.*323A>T) c.64-1048T>A (n.64-1048T>A) c.319-1048T>A (n.319-1048T>A) c.484A>T (p.Thr162Ser) c.829A>T (p.Thr277Ser) c.*166T>A (n.*166T>A) n.790T>A | |
11 | g.72108654C>A | CA381724080 | ANAPC15,LRRC51,LRTOMT,TOMT | c.506C>A (p.Thr169Asn) c.*16C>A (n.*16C>A) c.605C>A (p.Thr202Asn) c.*324C>A (n.*324C>A) c.64-1049G>T (n.64-1049G>T) c.319-1049G>T (n.319-1049G>T) c.485C>A (p.Thr162Asn) c.830C>A (p.Thr277Asn) c.*165G>T (n.*165G>T) n.789G>T | |
11 | g.72108654C= | CA1981841037 | ANAPC15,LRRC51,LRTOMT,TOMT | c.506C= (p.Thr169=) c.*16C= (n.*16C=) c.605C= (p.Thr202=) c.*324C= (n.*324C=) c.64-1049G= (n.64-1049G=) c.319-1049G= (n.319-1049G=) c.485C= (p.Thr162=) c.830C= (p.Thr277=) c.*165G= (n.*165G=) n.789G= | |
11 | g.72108654C>G | CA381724081 | ANAPC15,LRRC51,LRTOMT,TOMT | c.506C>G (p.Thr169Ser) c.*16C>G (n.*16C>G) c.605C>G (p.Thr202Ser) c.*324C>G (n.*324C>G) c.64-1049G>C (n.64-1049G>C) c.319-1049G>C (n.319-1049G>C) c.485C>G (p.Thr162Ser) c.830C>G (p.Thr277Ser) c.*165G>C (n.*165G>C) n.789G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108654C>T | CA381724082 | ANAPC15,LRRC51,LRTOMT,TOMT | c.506C>T (p.Thr169Ile) c.*16C>T (n.*16C>T) c.605C>T (p.Thr202Ile) c.*324C>T (n.*324C>T) c.64-1049G>A (n.64-1049G>A) c.319-1049G>A (n.319-1049G>A) c.485C>T (p.Thr162Ile) c.830C>T (p.Thr277Ile) c.*165G>A (n.*165G>A) n.789G>A | gnomAD v4 |
11 | g.72108655C>A | CA475592498 | ANAPC15,LRRC51,LRTOMT,TOMT | c.507C>A (p.Thr169=) c.*17C>A (n.*17C>A) c.606C>A (p.Thr202=) c.*325C>A (n.*325C>A) c.64-1050G>T (n.64-1050G>T) c.319-1050G>T (n.319-1050G>T) c.486C>A (p.Thr162=) c.831C>A (p.Thr277=) c.*164G>T (n.*164G>T) n.788G>T | dbSNP |
11 | g.72108655C= | CA1981841038 | ANAPC15,LRRC51,LRTOMT,TOMT | c.507C= (p.Thr169=) c.*17C= (n.*17C=) c.606C= (p.Thr202=) c.*325C= (n.*325C=) c.64-1050G= (n.64-1050G=) c.319-1050G= (n.319-1050G=) c.486C= (p.Thr162=) c.831C= (p.Thr277=) c.*164G= (n.*164G=) n.788G= | |
11 | g.72108655C>G | CA475592499 | ANAPC15,LRRC51,LRTOMT,TOMT | c.507C>G (p.Thr169=) c.*17C>G (n.*17C>G) c.606C>G (p.Thr202=) c.*325C>G (n.*325C>G) c.64-1050G>C (n.64-1050G>C) c.319-1050G>C (n.319-1050G>C) c.486C>G (p.Thr162=) c.831C>G (p.Thr277=) c.*164G>C (n.*164G>C) n.788G>C | |
11 | g.72108655C>T | CA475592500 | ANAPC15,LRRC51,LRTOMT,TOMT | c.507C>T (p.Thr169=) c.*17C>T (n.*17C>T) c.606C>T (p.Thr202=) c.*325C>T (n.*325C>T) c.64-1050G>A (n.64-1050G>A) c.319-1050G>A (n.319-1050G>A) c.486C>T (p.Thr162=) c.831C>T (p.Thr277=) c.*164G>A (n.*164G>A) n.788G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108656C>A | CA381724086 | ANAPC15,LRRC51,LRTOMT,TOMT | c.508C>A (p.Gln170Lys) c.*18C>A (n.*18C>A) c.607C>A (p.Gln203Lys) c.*326C>A (n.*326C>A) c.64-1051G>T (n.64-1051G>T) c.319-1051G>T (n.319-1051G>T) c.487C>A (p.Gln163Lys) c.832C>A (p.Gln278Lys) c.*163G>T (n.*163G>T) n.787G>T | |
11 | g.72108656C>G | CA381724088 | ANAPC15,LRRC51,LRTOMT,TOMT | c.508C>G (p.Gln170Glu) c.*18C>G (n.*18C>G) c.607C>G (p.Gln203Glu) c.*326C>G (n.*326C>G) c.64-1051G>C (n.64-1051G>C) c.319-1051G>C (n.319-1051G>C) c.487C>G (p.Gln163Glu) c.832C>G (p.Gln278Glu) c.*163G>C (n.*163G>C) n.787G>C | |
11 | g.72108656C>T | CA381724087 | ANAPC15,LRRC51,LRTOMT,TOMT | c.508C>T (p.Gln170Ter) c.*18C>T (n.*18C>T) c.607C>T (p.Gln203Ter) c.*326C>T (n.*326C>T) c.64-1051G>A (n.64-1051G>A) c.319-1051G>A (n.319-1051G>A) c.487C>T (p.Gln163Ter) c.832C>T (p.Gln278Ter) c.*163G>A (n.*163G>A) n.787G>A | |
11 | g.72108657A>C | CA381724096 | ANAPC15,LRRC51,LRTOMT,TOMT | c.509A>C (p.Gln170Pro) c.*19A>C (n.*19A>C) c.608A>C (p.Gln203Pro) c.*327A>C (n.*327A>C) c.64-1052T>G (n.64-1052T>G) c.319-1052T>G (n.319-1052T>G) c.488A>C (p.Gln163Pro) c.833A>C (p.Gln278Pro) c.*162T>G (n.*162T>G) n.786T>G | |
11 | g.72108657A>G | CA381724099 | ANAPC15,LRRC51,LRTOMT,TOMT | c.509A>G (p.Gln170Arg) c.*19A>G (n.*19A>G) c.608A>G (p.Gln203Arg) c.*327A>G (n.*327A>G) c.64-1052T>C (n.64-1052T>C) c.319-1052T>C (n.319-1052T>C) c.488A>G (p.Gln163Arg) c.833A>G (p.Gln278Arg) c.*162T>C (n.*162T>C) n.786T>C | |
11 | g.72108657A>T | CA381724102 | ANAPC15,LRRC51,LRTOMT,TOMT | c.509A>T (p.Gln170Leu) c.*19A>T (n.*19A>T) c.608A>T (p.Gln203Leu) c.*327A>T (n.*327A>T) c.64-1052T>A (n.64-1052T>A) c.319-1052T>A (n.319-1052T>A) c.488A>T (p.Gln163Leu) c.833A>T (p.Gln278Leu) c.*162T>A (n.*162T>A) n.786T>A | |
11 | g.72108658G>A | CA475592504 | ANAPC15,LRRC51,LRTOMT,TOMT | c.510G>A (p.Gln170=) c.*20G>A (n.*20G>A) c.609G>A (p.Gln203=) c.*328G>A (n.*328G>A) c.64-1053C>T (n.64-1053C>T) c.319-1053C>T (n.319-1053C>T) c.489G>A (p.Gln163=) c.834G>A (p.Gln278=) c.*161C>T (n.*161C>T) n.785C>T | |
11 | g.72108658G>C | CA381724107 | ANAPC15,LRRC51,LRTOMT,TOMT | c.510G>C (p.Gln170His) c.*20G>C (n.*20G>C) c.609G>C (p.Gln203His) c.*328G>C (n.*328G>C) c.64-1053C>G (n.64-1053C>G) c.319-1053C>G (n.319-1053C>G) c.489G>C (p.Gln163His) c.834G>C (p.Gln278His) c.*161C>G (n.*161C>G) n.785C>G | |
11 | g.72108658G>T | CA381724109 | ANAPC15,LRRC51,LRTOMT,TOMT | c.510G>T (p.Gln170His) c.*20G>T (n.*20G>T) c.609G>T (p.Gln203His) c.*328G>T (n.*328G>T) c.64-1053C>A (n.64-1053C>A) c.319-1053C>A (n.319-1053C>A) c.489G>T (p.Gln163His) c.834G>T (p.Gln278His) c.*161C>A (n.*161C>A) n.785C>A | gnomAD v4 |
11 | g.72108659T>A | CA381724112 | ANAPC15,LRRC51,LRTOMT,TOMT | c.511T>A (p.Tyr171Asn) c.*21T>A (n.*21T>A) c.610T>A (p.Tyr204Asn) c.*329T>A (n.*329T>A) c.64-1054A>T (n.64-1054A>T) c.319-1054A>T (n.319-1054A>T) c.490T>A (p.Tyr164Asn) c.835T>A (p.Tyr279Asn) c.*160A>T (n.*160A>T) n.784A>T | |
11 | g.72108659T>C | CA381724117 | ANAPC15,LRRC51,LRTOMT,TOMT | c.511T>C (p.Tyr171His) c.*21T>C (n.*21T>C) c.610T>C (p.Tyr204His) c.*329T>C (n.*329T>C) c.64-1054A>G (n.64-1054A>G) c.319-1054A>G (n.319-1054A>G) c.490T>C (p.Tyr164His) c.835T>C (p.Tyr279His) c.*160A>G (n.*160A>G) n.784A>G | dbSNP |
11 | g.72108659T>G | CA381724120 | ANAPC15,LRRC51,LRTOMT,TOMT | c.511T>G (p.Tyr171Asp) c.*21T>G (n.*21T>G) c.610T>G (p.Tyr204Asp) c.*329T>G (n.*329T>G) c.64-1054A>C (n.64-1054A>C) c.319-1054A>C (n.319-1054A>C) c.490T>G (p.Tyr164Asp) c.835T>G (p.Tyr279Asp) c.*160A>C (n.*160A>C) n.784A>C | |
11 | g.72108660A>C | CA381724125 | ANAPC15,LRRC51,LRTOMT,TOMT | c.512A>C (p.Tyr171Ser) c.*22A>C (n.*22A>C) c.611A>C (p.Tyr204Ser) c.*330A>C (n.*330A>C) c.64-1055T>G (n.64-1055T>G) c.319-1055T>G (n.319-1055T>G) c.491A>C (p.Tyr164Ser) c.836A>C (p.Tyr279Ser) c.*159T>G (n.*159T>G) n.783T>G | |
11 | g.72108660A>G | CA381724126 | ANAPC15,LRRC51,LRTOMT,TOMT | c.512A>G (p.Tyr171Cys) c.*22A>G (n.*22A>G) c.611A>G (p.Tyr204Cys) c.*330A>G (n.*330A>G) c.64-1055T>C (n.64-1055T>C) c.319-1055T>C (n.319-1055T>C) c.491A>G (p.Tyr164Cys) c.836A>G (p.Tyr279Cys) c.*159T>C (n.*159T>C) n.783T>C | |
11 | g.72108660A>T | CA381724129 | ANAPC15,LRRC51,LRTOMT,TOMT | c.512A>T (p.Tyr171Phe) c.*22A>T (n.*22A>T) c.611A>T (p.Tyr204Phe) c.*330A>T (n.*330A>T) c.64-1055T>A (n.64-1055T>A) c.319-1055T>A (n.319-1055T>A) c.491A>T (p.Tyr164Phe) c.836A>T (p.Tyr279Phe) c.*159T>A (n.*159T>A) n.783T>A | |
11 | g.72108661T>A | CA381724133 | ANAPC15,LRRC51,LRTOMT,TOMT | c.513T>A (p.Tyr171Ter) c.*23T>A (n.*23T>A) c.612T>A (p.Tyr204Ter) c.*331T>A (n.*331T>A) c.64-1056A>T (n.64-1056A>T) c.319-1056A>T (n.319-1056A>T) c.492T>A (p.Tyr164Ter) c.837T>A (p.Tyr279Ter) c.*158A>T (n.*158A>T) n.782A>T | gnomAD v4 |
11 | g.72108661T>C | CA475592506 | ANAPC15,LRRC51,LRTOMT,TOMT | c.513T>C (p.Tyr171=) c.*23T>C (n.*23T>C) c.612T>C (p.Tyr204=) c.*331T>C (n.*331T>C) c.64-1056A>G (n.64-1056A>G) c.319-1056A>G (n.319-1056A>G) c.492T>C (p.Tyr164=) c.837T>C (p.Tyr279=) c.*158A>G (n.*158A>G) n.782A>G | dbSNP |
11 | g.72108661T>G | CA381724147 | ANAPC15,LRRC51,LRTOMT,TOMT | c.513T>G (p.Tyr171Ter) c.*23T>G (n.*23T>G) c.612T>G (p.Tyr204Ter) c.*331T>G (n.*331T>G) c.64-1056A>C (n.64-1056A>C) c.319-1056A>C (n.319-1056A>C) c.492T>G (p.Tyr164Ter) c.837T>G (p.Tyr279Ter) c.*158A>C (n.*158A>C) n.782A>C | |
11 | g.72108661T= | CA1981841039 | ANAPC15,LRRC51,LRTOMT,TOMT | c.513T= (p.Tyr171=) c.*23T= (n.*23T=) c.612T= (p.Tyr204=) c.*331T= (n.*331T=) c.64-1056A= (n.64-1056A=) c.319-1056A= (n.319-1056A=) c.492T= (p.Tyr164=) c.837T= (p.Tyr279=) c.*158A= (n.*158A=) n.782A= | |
11 | g.72108662C>A | CA381724162 | ANAPC15,LRRC51,LRTOMT,TOMT | c.514C>A (p.Gln172Lys) c.*24C>A (n.*24C>A) c.613C>A (p.Gln205Lys) c.*332C>A (n.*332C>A) c.64-1057G>T (n.64-1057G>T) c.319-1057G>T (n.319-1057G>T) c.493C>A (p.Gln165Lys) c.838C>A (p.Gln280Lys) c.*157G>T (n.*157G>T) n.781G>T | |
11 | g.72108662C= | CA1981841040 | ANAPC15,LRRC51,LRTOMT,TOMT | c.514C= (p.Gln172=) c.*24C= (n.*24C=) c.613C= (p.Gln205=) c.*332C= (n.*332C=) c.64-1057G= (n.64-1057G=) c.319-1057G= (n.319-1057G=) c.493C= (p.Gln165=) c.838C= (p.Gln280=) c.*157G= (n.*157G=) n.781G= | |
11 | g.72108662C>G | CA381724159 | ANAPC15,LRRC51,LRTOMT,TOMT | c.514C>G (p.Gln172Glu) c.*24C>G (n.*24C>G) c.613C>G (p.Gln205Glu) c.*332C>G (n.*332C>G) c.64-1057G>C (n.64-1057G>C) c.319-1057G>C (n.319-1057G>C) c.493C>G (p.Gln165Glu) c.838C>G (p.Gln280Glu) c.*157G>C (n.*157G>C) n.781G>C | |
11 | g.72108662C>T | CA381724161 | ANAPC15,LRRC51,LRTOMT,TOMT | c.514C>T (p.Gln172Ter) c.*24C>T (n.*24C>T) c.613C>T (p.Gln205Ter) c.*332C>T (n.*332C>T) c.64-1057G>A (n.64-1057G>A) c.319-1057G>A (n.319-1057G>A) c.493C>T (p.Gln165Ter) c.838C>T (p.Gln280Ter) c.*157G>A (n.*157G>A) n.781G>A | |
11 | g.72108663A>C | CA381724172 | ANAPC15,LRRC51,LRTOMT,TOMT | c.515A>C (p.Gln172Pro) c.*25A>C (n.*25A>C) c.614A>C (p.Gln205Pro) c.*333A>C (n.*333A>C) c.64-1058T>G (n.64-1058T>G) c.319-1058T>G (n.319-1058T>G) c.494A>C (p.Gln165Pro) c.839A>C (p.Gln280Pro) c.*156T>G (n.*156T>G) n.780T>G | gnomAD v4 |
11 | g.72108663A>G | CA381724173 | ANAPC15,LRRC51,LRTOMT,TOMT | c.515A>G (p.Gln172Arg) c.*25A>G (n.*25A>G) c.614A>G (p.Gln205Arg) c.*333A>G (n.*333A>G) c.64-1058T>C (n.64-1058T>C) c.319-1058T>C (n.319-1058T>C) c.494A>G (p.Gln165Arg) c.839A>G (p.Gln280Arg) c.*156T>C (n.*156T>C) n.780T>C | gnomAD v4 |
11 | g.72108663A>T | CA381724174 | ANAPC15,LRRC51,LRTOMT,TOMT | c.515A>T (p.Gln172Leu) c.*25A>T (n.*25A>T) c.614A>T (p.Gln205Leu) c.*333A>T (n.*333A>T) c.64-1058T>A (n.64-1058T>A) c.319-1058T>A (n.319-1058T>A) c.494A>T (p.Gln165Leu) c.839A>T (p.Gln280Leu) c.*156T>A (n.*156T>A) n.780T>A | |
11 | g.72108663_72108666dup | CA204751 | ANAPC15,LRRC51,LRTOMT,TOMT | c.515_518dup (p.Ser174AlafsTer?) c.*25_*28dup (n.*25_*28dup) c.614_617dup (p.Ser207AlafsTer?) c.*333_*336dup (n.*333_*336dup) c.64-1061_64-1058dup (n.64-1061_64-1058dup) c.319-1061_319-1058dup (n.319-1061_319-1058dup) c.494_497dup (p.Ser167AlafsTer?) c.839_842dup (p.Ser282AlafsTer?) c.*153_*156dup (n.*153_*156dup) n.777_780dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108664G>A | CA224375578 | ANAPC15,LRRC51,LRTOMT,TOMT | c.516G>A (p.Gln172=) c.*26G>A (n.*26G>A) c.615G>A (p.Gln205=) c.*334G>A (n.*334G>A) c.64-1059C>T (n.64-1059C>T) c.319-1059C>T (n.319-1059C>T) c.495G>A (p.Gln165=) c.840G>A (p.Gln280=) c.*155C>T (n.*155C>T) n.779C>T | dbSNP gnomAD v4 |
11 | g.72108664G>C | CA381724177 | ANAPC15,LRRC51,LRTOMT,TOMT | c.516G>C (p.Gln172His) c.*26G>C (n.*26G>C) c.615G>C (p.Gln205His) c.*334G>C (n.*334G>C) c.64-1059C>G (n.64-1059C>G) c.319-1059C>G (n.319-1059C>G) c.495G>C (p.Gln165His) c.840G>C (p.Gln280His) c.*155C>G (n.*155C>G) n.779C>G | |
11 | g.72108664G= | CA1981841041 | ANAPC15,LRRC51,LRTOMT,TOMT | c.516G= (p.Gln172=) c.*26G= (n.*26G=) c.615G= (p.Gln205=) c.*334G= (n.*334G=) c.64-1059C= (n.64-1059C=) c.319-1059C= (n.319-1059C=) c.495G= (p.Gln165=) c.840G= (p.Gln280=) c.*155C= (n.*155C=) n.779C= | |
11 | g.72108664G>T | CA381724178 | ANAPC15,LRRC51,LRTOMT,TOMT | c.516G>T (p.Gln172His) c.*26G>T (n.*26G>T) c.615G>T (p.Gln205His) c.*334G>T (n.*334G>T) c.64-1059C>A (n.64-1059C>A) c.319-1059C>A (n.319-1059C>A) c.495G>T (p.Gln165His) c.840G>T (p.Gln280His) c.*155C>A (n.*155C>A) n.779C>A | gnomAD v4 |
11 | g.72108665C>A | CA381724182 | ANAPC15,LRRC51,LRTOMT,TOMT | c.517C>A (p.Leu173Met) c.*27C>A (n.*27C>A) c.616C>A (p.Leu206Met) c.*335C>A (n.*335C>A) c.64-1060G>T (n.64-1060G>T) c.319-1060G>T (n.319-1060G>T) c.496C>A (p.Leu166Met) c.841C>A (p.Leu281Met) c.*154G>T (n.*154G>T) n.778G>T | gnomAD v4 |
11 | g.72108665C>G | CA381724189 | ANAPC15,LRRC51,LRTOMT,TOMT | c.517C>G (p.Leu173Val) c.*27C>G (n.*27C>G) c.616C>G (p.Leu206Val) c.*335C>G (n.*335C>G) c.64-1060G>C (n.64-1060G>C) c.319-1060G>C (n.319-1060G>C) c.496C>G (p.Leu166Val) c.841C>G (p.Leu281Val) c.*154G>C (n.*154G>C) n.778G>C | |
11 | g.72108665C>T | CA475592511 | ANAPC15,LRRC51,LRTOMT,TOMT | c.517C>T (p.Leu173=) c.*27C>T (n.*27C>T) c.616C>T (p.Leu206=) c.*335C>T (n.*335C>T) c.64-1060G>A (n.64-1060G>A) c.319-1060G>A (n.319-1060G>A) c.496C>T (p.Leu166=) c.841C>T (p.Leu281=) c.*154G>A (n.*154G>A) n.778G>A | gnomAD v4 |
11 | g.72108666T>A | CA381724208 | ANAPC15,LRRC51,LRTOMT,TOMT | c.518T>A (p.Leu173Gln) c.*28T>A (n.*28T>A) c.617T>A (p.Leu206Gln) c.*336T>A (n.*336T>A) c.64-1061A>T (n.64-1061A>T) c.319-1061A>T (n.319-1061A>T) c.497T>A (p.Leu166Gln) c.842T>A (p.Leu281Gln) c.*153A>T (n.*153A>T) n.777A>T | |
11 | g.72108666T>C | CA381724216 | ANAPC15,LRRC51,LRTOMT,TOMT | c.518T>C (p.Leu173Pro) c.*28T>C (n.*28T>C) c.617T>C (p.Leu206Pro) c.*336T>C (n.*336T>C) c.64-1061A>G (n.64-1061A>G) c.319-1061A>G (n.319-1061A>G) c.497T>C (p.Leu166Pro) c.842T>C (p.Leu281Pro) c.*153A>G (n.*153A>G) n.777A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108666T>G | CA381724219 | ANAPC15,LRRC51,LRTOMT,TOMT | c.518T>G (p.Leu173Arg) c.*28T>G (n.*28T>G) c.617T>G (p.Leu206Arg) c.*336T>G (n.*336T>G) c.64-1061A>C (n.64-1061A>C) c.319-1061A>C (n.319-1061A>C) c.497T>G (p.Leu166Arg) c.842T>G (p.Leu281Arg) c.*153A>C (n.*153A>C) n.777A>C | gnomAD v4 |
11 | g.72108666T= | CA1981841042 | ANAPC15,LRRC51,LRTOMT,TOMT | c.518T= (p.Leu173=) c.*28T= (n.*28T=) c.617T= (p.Leu206=) c.*336T= (n.*336T=) c.64-1061A= (n.64-1061A=) c.319-1061A= (n.319-1061A=) c.497T= (p.Leu166=) c.842T= (p.Leu281=) c.*153A= (n.*153A=) n.777A= | |
11 | g.72108667G>A | CA475592512 | ANAPC15,LRRC51,LRTOMT,TOMT | c.519G>A (p.Leu173=) c.*29G>A (n.*29G>A) c.618G>A (p.Leu206=) c.*337G>A (n.*337G>A) c.64-1062C>T (n.64-1062C>T) c.319-1062C>T (n.319-1062C>T) c.498G>A (p.Leu166=) c.843G>A (p.Leu281=) c.*152C>T (n.*152C>T) n.776C>T | COSMIC |
11 | g.72108667G>C | CA475592513 | ANAPC15,LRRC51,LRTOMT,TOMT | c.519G>C (p.Leu173=) c.*29G>C (n.*29G>C) c.618G>C (p.Leu206=) c.*337G>C (n.*337G>C) c.64-1062C>G (n.64-1062C>G) c.319-1062C>G (n.319-1062C>G) c.498G>C (p.Leu166=) c.843G>C (p.Leu281=) c.*152C>G (n.*152C>G) n.776C>G | |
11 | g.72108667G>T | CA475592514 | ANAPC15,LRRC51,LRTOMT,TOMT | c.519G>T (p.Leu173=) c.*29G>T (n.*29G>T) c.618G>T (p.Leu206=) c.*337G>T (n.*337G>T) c.64-1062C>A (n.64-1062C>A) c.319-1062C>A (n.319-1062C>A) c.498G>T (p.Leu166=) c.843G>T (p.Leu281=) c.*152C>A (n.*152C>A) n.776C>A | |
11 | g.72108668A>C | CA381724228 | ANAPC15,LRRC51,LRTOMT,TOMT | c.520A>C (p.Ser174Arg) c.*30A>C (n.*30A>C) c.619A>C (p.Ser207Arg) c.*338A>C (n.*338A>C) c.64-1063T>G (n.64-1063T>G) c.319-1063T>G (n.319-1063T>G) c.499A>C (p.Ser167Arg) c.844A>C (p.Ser282Arg) c.*151T>G (n.*151T>G) n.775T>G | |
11 | g.72108668A>G | CA381724232 | ANAPC15,LRRC51,LRTOMT,TOMT | c.520A>G (p.Ser174Gly) c.*30A>G (n.*30A>G) c.619A>G (p.Ser207Gly) c.*338A>G (n.*338A>G) c.64-1063T>C (n.64-1063T>C) c.319-1063T>C (n.319-1063T>C) c.499A>G (p.Ser167Gly) c.844A>G (p.Ser282Gly) c.*151T>C (n.*151T>C) n.775T>C | |
11 | g.72108668A>T | CA381724229 | ANAPC15,LRRC51,LRTOMT,TOMT | c.520A>T (p.Ser174Cys) c.*30A>T (n.*30A>T) c.619A>T (p.Ser207Cys) c.*338A>T (n.*338A>T) c.64-1063T>A (n.64-1063T>A) c.319-1063T>A (n.319-1063T>A) c.499A>T (p.Ser167Cys) c.844A>T (p.Ser282Cys) c.*151T>A (n.*151T>A) n.775T>A | gnomAD v4 |
11 | g.72108669G>A | CA381724235 | ANAPC15,LRRC51,LRTOMT,TOMT | c.521G>A (p.Ser174Asn) c.*31G>A (n.*31G>A) c.620G>A (p.Ser207Asn) c.*339G>A (n.*339G>A) c.64-1064C>T (n.64-1064C>T) c.319-1064C>T (n.319-1064C>T) c.500G>A (p.Ser167Asn) c.845G>A (p.Ser282Asn) c.*150C>T (n.*150C>T) n.774C>T | |
11 | g.72108669G>C | CA381724237 | ANAPC15,LRRC51,LRTOMT,TOMT | c.521G>C (p.Ser174Thr) c.*31G>C (n.*31G>C) c.620G>C (p.Ser207Thr) c.*339G>C (n.*339G>C) c.64-1064C>G (n.64-1064C>G) c.319-1064C>G (n.319-1064C>G) c.500G>C (p.Ser167Thr) c.845G>C (p.Ser282Thr) c.*150C>G (n.*150C>G) n.774C>G | |
11 | g.72108669G>T | CA381724240 | ANAPC15,LRRC51,LRTOMT,TOMT | c.521G>T (p.Ser174Ile) c.*31G>T (n.*31G>T) c.620G>T (p.Ser207Ile) c.*339G>T (n.*339G>T) c.64-1064C>A (n.64-1064C>A) c.319-1064C>A (n.319-1064C>A) c.500G>T (p.Ser167Ile) c.845G>T (p.Ser282Ile) c.*150C>A (n.*150C>A) n.774C>A | gnomAD v4 |
11 | g.72108670T>A | CA381724247 | ANAPC15,LRRC51,LRTOMT,TOMT | c.522T>A (p.Ser174Arg) c.*32T>A (n.*32T>A) c.621T>A (p.Ser207Arg) c.*340T>A (n.*340T>A) c.64-1065A>T (n.64-1065A>T) c.319-1065A>T (n.319-1065A>T) c.501T>A (p.Ser167Arg) c.846T>A (p.Ser282Arg) c.*149A>T (n.*149A>T) n.773A>T | |
11 | g.72108670T>C | CA475592518 | ANAPC15,LRRC51,LRTOMT,TOMT | c.522T>C (p.Ser174=) c.*32T>C (n.*32T>C) c.621T>C (p.Ser207=) c.*340T>C (n.*340T>C) c.64-1065A>G (n.64-1065A>G) c.319-1065A>G (n.319-1065A>G) c.501T>C (p.Ser167=) c.846T>C (p.Ser282=) c.*149A>G (n.*149A>G) n.773A>G | |
11 | g.72108670T>G | CA381724251 | ANAPC15,LRRC51,LRTOMT,TOMT | c.522T>G (p.Ser174Arg) c.*32T>G (n.*32T>G) c.621T>G (p.Ser207Arg) c.*340T>G (n.*340T>G) c.64-1065A>C (n.64-1065A>C) c.319-1065A>C (n.319-1065A>C) c.501T>G (p.Ser167Arg) c.846T>G (p.Ser282Arg) c.*149A>C (n.*149A>C) n.773A>C | |
11 | g.72108671C>A | CA475592519 | ANAPC15,LRRC51,LRTOMT,TOMT | c.523C>A (p.Arg175=) c.*33C>A (n.*33C>A) c.622C>A (p.Arg208=) c.*341C>A (n.*341C>A) c.64-1066G>T (n.64-1066G>T) c.319-1066G>T (n.319-1066G>T) c.502C>A (p.Arg168=) c.847C>A (p.Arg283=) c.*148G>T (n.*148G>T) n.772G>T | gnomAD v4 |
11 | g.72108671C= | CA1981841043 | ANAPC15,LRRC51,LRTOMT,TOMT | c.523C= (p.Arg175=) c.*33C= (n.*33C=) c.622C= (p.Arg208=) c.*341C= (n.*341C=) c.64-1066G= (n.64-1066G=) c.319-1066G= (n.319-1066G=) c.502C= (p.Arg168=) c.847C= (p.Arg283=) c.*148G= (n.*148G=) n.772G= | |
11 | g.72108671C>G | CA381724266 | ANAPC15,LRRC51,LRTOMT,TOMT | c.523C>G (p.Arg175Gly) c.*33C>G (n.*33C>G) c.622C>G (p.Arg208Gly) c.*341C>G (n.*341C>G) c.64-1066G>C (n.64-1066G>C) c.319-1066G>C (n.319-1066G>C) c.502C>G (p.Arg168Gly) c.847C>G (p.Arg283Gly) c.*148G>C (n.*148G>C) n.772G>C | |
11 | g.72108671C>T | CA224375581 | ANAPC15,LRRC51,LRTOMT,TOMT | c.523C>T (p.Arg175Trp) c.*33C>T (n.*33C>T) c.622C>T (p.Arg208Trp) c.*341C>T (n.*341C>T) c.64-1066G>A (n.64-1066G>A) c.319-1066G>A (n.319-1066G>A) c.502C>T (p.Arg168Trp) c.847C>T (p.Arg283Trp) c.*148G>A (n.*148G>A) n.772G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.72108672G>A | CA133446 | ANAPC15,LRRC51,LRTOMT,TOMT | c.524G>A (p.Arg175Gln) c.*34G>A (n.*34G>A) c.623G>A (p.Arg208Gln) c.*342G>A (n.*342G>A) c.64-1067C>T (n.64-1067C>T) c.319-1067C>T (n.319-1067C>T) c.503G>A (p.Arg168Gln) c.848G>A (p.Arg283Gln) c.*147C>T (n.*147C>T) n.771C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108672G>C | CA381724275 | ANAPC15,LRRC51,LRTOMT,TOMT | c.524G>C (p.Arg175Pro) c.*34G>C (n.*34G>C) c.623G>C (p.Arg208Pro) c.*342G>C (n.*342G>C) c.64-1067C>G (n.64-1067C>G) c.319-1067C>G (n.319-1067C>G) c.503G>C (p.Arg168Pro) c.848G>C (p.Arg283Pro) c.*147C>G (n.*147C>G) n.771C>G | |
11 | g.72108672G= | CA1981841044 | ANAPC15,LRRC51,LRTOMT,TOMT | c.524G= (p.Arg175=) c.*34G= (n.*34G=) c.623G= (p.Arg208=) c.*342G= (n.*342G=) c.64-1067C= (n.64-1067C=) c.319-1067C= (n.319-1067C=) c.503G= (p.Arg168=) c.848G= (p.Arg283=) c.*147C= (n.*147C=) n.771C= | |
11 | g.72108672G>T | CA224375588 | ANAPC15,LRRC51,LRTOMT,TOMT | c.524G>T (p.Arg175Leu) c.*34G>T (n.*34G>T) c.623G>T (p.Arg208Leu) c.*342G>T (n.*342G>T) c.64-1067C>A (n.64-1067C>A) c.319-1067C>A (n.319-1067C>A) c.503G>T (p.Arg168Leu) c.848G>T (p.Arg283Leu) c.*147C>A (n.*147C>A) n.771C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108673G>A | CA475592523 | ANAPC15,LRRC51,LRTOMT,TOMT | c.525G>A (p.Arg175=) c.*35G>A (n.*35G>A) c.624G>A (p.Arg208=) c.*343G>A (n.*343G>A) c.64-1068C>T (n.64-1068C>T) c.319-1068C>T (n.319-1068C>T) c.504G>A (p.Arg168=) c.849G>A (p.Arg283=) c.*146C>T (n.*146C>T) n.770C>T | |
11 | g.72108673G>C | CA475592524 | ANAPC15,LRRC51,LRTOMT,TOMT | c.525G>C (p.Arg175=) c.*35G>C (n.*35G>C) c.624G>C (p.Arg208=) c.*343G>C (n.*343G>C) c.64-1068C>G (n.64-1068C>G) c.319-1068C>G (n.319-1068C>G) c.504G>C (p.Arg168=) c.849G>C (p.Arg283=) c.*146C>G (n.*146C>G) n.770C>G | |
11 | g.72108673G>T | CA475592525 | ANAPC15,LRRC51,LRTOMT,TOMT | c.525G>T (p.Arg175=) c.*35G>T (n.*35G>T) c.624G>T (p.Arg208=) c.*343G>T (n.*343G>T) c.64-1068C>A (n.64-1068C>A) c.319-1068C>A (n.319-1068C>A) c.504G>T (p.Arg168=) c.849G>T (p.Arg283=) c.*146C>A (n.*146C>A) n.770C>A | gnomAD v4 |
11 | g.72108674G>A | CA381724287 | ANAPC15,LRRC51,LRTOMT,TOMT | c.526G>A (p.Ala176Thr) c.*36G>A (n.*36G>A) c.625G>A (p.Ala209Thr) c.*344G>A (n.*344G>A) c.64-1069C>T (n.64-1069C>T) c.319-1069C>T (n.319-1069C>T) c.505G>A (p.Ala169Thr) c.850G>A (p.Ala284Thr) c.*145C>T (n.*145C>T) n.769C>T | gnomAD v4 |
11 | g.72108674G>C | CA381724291 | ANAPC15,LRRC51,LRTOMT,TOMT | c.526G>C (p.Ala176Pro) c.*36G>C (n.*36G>C) c.625G>C (p.Ala209Pro) c.*344G>C (n.*344G>C) c.64-1069C>G (n.64-1069C>G) c.319-1069C>G (n.319-1069C>G) c.505G>C (p.Ala169Pro) c.850G>C (p.Ala284Pro) c.*145C>G (n.*145C>G) n.769C>G | |
11 | g.72108674G>T | CA381724296 | ANAPC15,LRRC51,LRTOMT,TOMT | c.526G>T (p.Ala176Ser) c.*36G>T (n.*36G>T) c.625G>T (p.Ala209Ser) c.*344G>T (n.*344G>T) c.64-1069C>A (n.64-1069C>A) c.319-1069C>A (n.319-1069C>A) c.505G>T (p.Ala169Ser) c.850G>T (p.Ala284Ser) c.*145C>A (n.*145C>A) n.769C>A | gnomAD v4 |
11 | g.72108675C>A | CA381724302 | ANAPC15,LRRC51,LRTOMT,TOMT | c.527C>A (p.Ala176Glu) c.*37C>A (n.*37C>A) c.626C>A (p.Ala209Glu) c.*345C>A (n.*345C>A) c.64-1070G>T (n.64-1070G>T) c.319-1070G>T (n.319-1070G>T) c.506C>A (p.Ala169Glu) c.851C>A (p.Ala284Glu) c.*144G>T (n.*144G>T) n.768G>T | gnomAD v4 |
11 | g.72108675C>G | CA381724298 | ANAPC15,LRRC51,LRTOMT,TOMT | c.527C>G (p.Ala176Gly) c.*37C>G (n.*37C>G) c.626C>G (p.Ala209Gly) c.*345C>G (n.*345C>G) c.64-1070G>C (n.64-1070G>C) c.319-1070G>C (n.319-1070G>C) c.506C>G (p.Ala169Gly) c.851C>G (p.Ala284Gly) c.*144G>C (n.*144G>C) n.768G>C | gnomAD v4 |
11 | g.72108675C>T | CA381724297 | ANAPC15,LRRC51,LRTOMT,TOMT | c.527C>T (p.Ala176Val) c.*37C>T (n.*37C>T) c.626C>T (p.Ala209Val) c.*345C>T (n.*345C>T) c.64-1070G>A (n.64-1070G>A) c.319-1070G>A (n.319-1070G>A) c.506C>T (p.Ala169Val) c.851C>T (p.Ala284Val) c.*144G>A (n.*144G>A) n.768G>A | |
11 | g.72108676A>C | CA475592527 | ANAPC15,LRRC51,LRTOMT,TOMT | c.528A>C (p.Ala176=) c.*38A>C (n.*38A>C) c.627A>C (p.Ala209=) c.*346A>C (n.*346A>C) c.64-1071T>G (n.64-1071T>G) c.319-1071T>G (n.319-1071T>G) c.507A>C (p.Ala169=) c.852A>C (p.Ala284=) c.*143T>G (n.*143T>G) n.767T>G | |
11 | g.72108676A>G | CA475592528 | ANAPC15,LRRC51,LRTOMT,TOMT | c.528A>G (p.Ala176=) c.*38A>G (n.*38A>G) c.627A>G (p.Ala209=) c.*346A>G (n.*346A>G) c.64-1071T>C (n.64-1071T>C) c.319-1071T>C (n.319-1071T>C) c.507A>G (p.Ala169=) c.852A>G (p.Ala284=) c.*143T>C (n.*143T>C) n.767T>C | |
11 | g.72108676A>T | CA475592529 | ANAPC15,LRRC51,LRTOMT,TOMT | c.528A>T (p.Ala176=) c.*38A>T (n.*38A>T) c.627A>T (p.Ala209=) c.*346A>T (n.*346A>T) c.64-1071T>A (n.64-1071T>A) c.319-1071T>A (n.319-1071T>A) c.507A>T (p.Ala169=) c.852A>T (p.Ala284=) c.*143T>A (n.*143T>A) n.767T>A | |
11 | g.72108677G>A | CA381724303 | ANAPC15,LRRC51,LRTOMT,TOMT | c.529G>A (p.Asp177Asn) c.*39G>A (n.*39G>A) c.628G>A (p.Asp210Asn) c.*347G>A (n.*347G>A) c.64-1072C>T (n.64-1072C>T) c.319-1072C>T (n.319-1072C>T) c.508G>A (p.Asp170Asn) c.853G>A (p.Asp285Asn) c.*142C>T (n.*142C>T) n.766C>T | |
11 | g.72108677G>C | CA381724305 | ANAPC15,LRRC51,LRTOMT,TOMT | c.529G>C (p.Asp177His) c.*39G>C (n.*39G>C) c.628G>C (p.Asp210His) c.*347G>C (n.*347G>C) c.64-1072C>G (n.64-1072C>G) c.319-1072C>G (n.319-1072C>G) c.508G>C (p.Asp170His) c.853G>C (p.Asp285His) c.*142C>G (n.*142C>G) n.766C>G | |
11 | g.72108677G>T | CA381724308 | ANAPC15,LRRC51,LRTOMT,TOMT | c.529G>T (p.Asp177Tyr) c.*39G>T (n.*39G>T) c.628G>T (p.Asp210Tyr) c.*347G>T (n.*347G>T) c.64-1072C>A (n.64-1072C>A) c.319-1072C>A (n.319-1072C>A) c.508G>T (p.Asp170Tyr) c.853G>T (p.Asp285Tyr) c.*142C>A (n.*142C>A) n.766C>A | gnomAD v4 |
11 | g.72108678A= | CA1981841045 | ANAPC15,LRRC51,LRTOMT,TOMT | c.530A= (p.Asp177=) c.*40A= (n.*40A=) c.629A= (p.Asp210=) c.*348A= (n.*348A=) c.64-1073T= (n.64-1073T=) c.319-1073T= (n.319-1073T=) c.509A= (p.Asp170=) c.854A= (p.Asp285=) c.*141T= (n.*141T=) n.765T= | |
11 | g.72108678A>C | CA381724320 | ANAPC15,LRRC51,LRTOMT,TOMT | c.530A>C (p.Asp177Ala) c.*40A>C (n.*40A>C) c.629A>C (p.Asp210Ala) c.*348A>C (n.*348A>C) c.64-1073T>G (n.64-1073T>G) c.319-1073T>G (n.319-1073T>G) c.509A>C (p.Asp170Ala) c.854A>C (p.Asp285Ala) c.*141T>G (n.*141T>G) n.765T>G | dbSNP |
11 | g.72108678A>G | CA381724325 | ANAPC15,LRRC51,LRTOMT,TOMT | c.530A>G (p.Asp177Gly) c.*40A>G (n.*40A>G) c.629A>G (p.Asp210Gly) c.*348A>G (n.*348A>G) c.64-1073T>C (n.64-1073T>C) c.319-1073T>C (n.319-1073T>C) c.509A>G (p.Asp170Gly) c.854A>G (p.Asp285Gly) c.*141T>C (n.*141T>C) n.765T>C | |
11 | g.72108678A>T | CA381724328 | ANAPC15,LRRC51,LRTOMT,TOMT | c.530A>T (p.Asp177Val) c.*40A>T (n.*40A>T) c.629A>T (p.Asp210Val) c.*348A>T (n.*348A>T) c.64-1073T>A (n.64-1073T>A) c.319-1073T>A (n.319-1073T>A) c.509A>T (p.Asp170Val) c.854A>T (p.Asp285Val) c.*141T>A (n.*141T>A) n.765T>A | |
11 | g.72108679C>A | CA381724333 | ANAPC15,LRRC51,LRTOMT,TOMT | c.531C>A (p.Asp177Glu) c.*41C>A (n.*41C>A) c.630C>A (p.Asp210Glu) c.*349C>A (n.*349C>A) c.64-1074G>T (n.64-1074G>T) c.319-1074G>T (n.319-1074G>T) c.510C>A (p.Asp170Glu) c.855C>A (p.Asp285Glu) c.*140G>T (n.*140G>T) n.764G>T | ClinVar dbSNP gnomAD v4 |
11 | g.72108679C= | CA1981841046 | ANAPC15,LRRC51,LRTOMT,TOMT | c.531C= (p.Asp177=) c.*41C= (n.*41C=) c.630C= (p.Asp210=) c.*349C= (n.*349C=) c.64-1074G= (n.64-1074G=) c.319-1074G= (n.319-1074G=) c.510C= (p.Asp170=) c.855C= (p.Asp285=) c.*140G= (n.*140G=) n.764G= | |
11 | g.72108679C>G | CA381724337 | ANAPC15,LRRC51,LRTOMT,TOMT | c.531C>G (p.Asp177Glu) c.*41C>G (n.*41C>G) c.630C>G (p.Asp210Glu) c.*349C>G (n.*349C>G) c.64-1074G>C (n.64-1074G>C) c.319-1074G>C (n.319-1074G>C) c.510C>G (p.Asp170Glu) c.855C>G (p.Asp285Glu) c.*140G>C (n.*140G>C) n.764G>C | dbSNP gnomAD v4 |
11 | g.72108679C>T | CA475592533 | ANAPC15,LRRC51,LRTOMT,TOMT | c.531C>T (p.Asp177=) c.*41C>T (n.*41C>T) c.630C>T (p.Asp210=) c.*349C>T (n.*349C>T) c.64-1074G>A (n.64-1074G>A) c.319-1074G>A (n.319-1074G>A) c.510C>T (p.Asp170=) c.855C>T (p.Asp285=) c.*140G>A (n.*140G>A) n.764G>A | gnomAD v4 |
11 | g.72108680C>A | CA381724341 | ANAPC15,LRRC51,LRTOMT,TOMT | c.532C>A (p.Leu178Met) c.*42C>A (n.*42C>A) c.631C>A (p.Leu211Met) c.*350C>A (n.*350C>A) c.64-1075G>T (n.64-1075G>T) c.319-1075G>T (n.319-1075G>T) c.511C>A (p.Leu171Met) c.856C>A (p.Leu286Met) c.*139G>T (n.*139G>T) n.763G>T | COSMIC |
11 | g.72108680C= | CA1981841047 | ANAPC15,LRRC51,LRTOMT,TOMT | c.532C= (p.Leu178=) c.*42C= (n.*42C=) c.631C= (p.Leu211=) c.*350C= (n.*350C=) c.64-1075G= (n.64-1075G=) c.319-1075G= (n.319-1075G=) c.511C= (p.Leu171=) c.856C= (p.Leu286=) c.*139G= (n.*139G=) n.763G= | |
11 | g.72108680C>G | CA381724348 | ANAPC15,LRRC51,LRTOMT,TOMT | c.532C>G (p.Leu178Val) c.*42C>G (n.*42C>G) c.631C>G (p.Leu211Val) c.*350C>G (n.*350C>G) c.64-1075G>C (n.64-1075G>C) c.319-1075G>C (n.319-1075G>C) c.511C>G (p.Leu171Val) c.856C>G (p.Leu286Val) c.*139G>C (n.*139G>C) n.763G>C | |
11 | g.72108680C>T | CA475592534 | ANAPC15,LRRC51,LRTOMT,TOMT | c.532C>T (p.Leu178=) c.*42C>T (n.*42C>T) c.631C>T (p.Leu211=) c.*350C>T (n.*350C>T) c.64-1075G>A (n.64-1075G>A) c.319-1075G>A (n.319-1075G>A) c.511C>T (p.Leu171=) c.856C>T (p.Leu286=) c.*139G>A (n.*139G>A) n.763G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108681T>A | CA381724354 | ANAPC15,LRRC51,LRTOMT,TOMT | c.533T>A (p.Leu178Gln) c.*43T>A (n.*43T>A) c.632T>A (p.Leu211Gln) c.*351T>A (n.*351T>A) c.64-1076A>T (n.64-1076A>T) c.319-1076A>T (n.319-1076A>T) c.512T>A (p.Leu171Gln) c.857T>A (p.Leu286Gln) c.*138A>T (n.*138A>T) n.762A>T | |
11 | g.72108681T>C | CA381724356 | ANAPC15,LRRC51,LRTOMT,TOMT | c.533T>C (p.Leu178Pro) c.*43T>C (n.*43T>C) c.632T>C (p.Leu211Pro) c.*351T>C (n.*351T>C) c.64-1076A>G (n.64-1076A>G) c.319-1076A>G (n.319-1076A>G) c.512T>C (p.Leu171Pro) c.857T>C (p.Leu286Pro) c.*138A>G (n.*138A>G) n.762A>G | |
11 | g.72108681T>G | CA381724357 | ANAPC15,LRRC51,LRTOMT,TOMT | c.533T>G (p.Leu178Arg) c.*43T>G (n.*43T>G) c.632T>G (p.Leu211Arg) c.*351T>G (n.*351T>G) c.64-1076A>C (n.64-1076A>C) c.319-1076A>C (n.319-1076A>C) c.512T>G (p.Leu171Arg) c.857T>G (p.Leu286Arg) c.*138A>C (n.*138A>C) n.762A>C | |
11 | g.72108682G>A | CA475592536 | ANAPC15,LRRC51,LRTOMT,TOMT | c.534G>A (p.Leu178=) c.*44G>A (n.*44G>A) c.633G>A (p.Leu211=) c.*352G>A (n.*352G>A) c.64-1077C>T (n.64-1077C>T) c.319-1077C>T (n.319-1077C>T) c.513G>A (p.Leu171=) c.858G>A (p.Leu286=) c.*137C>T (n.*137C>T) n.761C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108682G>C | CA475592537 | ANAPC15,LRRC51,LRTOMT,TOMT | c.534G>C (p.Leu178=) c.*44G>C (n.*44G>C) c.633G>C (p.Leu211=) c.*352G>C (n.*352G>C) c.64-1077C>G (n.64-1077C>G) c.319-1077C>G (n.319-1077C>G) c.513G>C (p.Leu171=) c.858G>C (p.Leu286=) c.*137C>G (n.*137C>G) n.761C>G | |
11 | g.72108682G= | CA1981841048 | ANAPC15,LRRC51,LRTOMT,TOMT | c.534G= (p.Leu178=) c.*44G= (n.*44G=) c.633G= (p.Leu211=) c.*352G= (n.*352G=) c.64-1077C= (n.64-1077C=) c.319-1077C= (n.319-1077C=) c.513G= (p.Leu171=) c.858G= (p.Leu286=) c.*137C= (n.*137C=) n.761C= | |
11 | g.72108682G>T | CA475592538 | ANAPC15,LRRC51,LRTOMT,TOMT | c.534G>T (p.Leu178=) c.*44G>T (n.*44G>T) c.633G>T (p.Leu211=) c.*352G>T (n.*352G>T) c.64-1077C>A (n.64-1077C>A) c.319-1077C>A (n.319-1077C>A) c.513G>T (p.Leu171=) c.858G>T (p.Leu286=) c.*137C>A (n.*137C>A) n.761C>A | gnomAD v4 |
11 | g.72108683G>A | CA381724365 | ANAPC15,LRRC51,LRTOMT,TOMT | c.535G>A (p.Val179Met) c.*45G>A (n.*45G>A) c.634G>A (p.Val212Met) c.*353G>A (n.*353G>A) c.64-1078C>T (n.64-1078C>T) c.319-1078C>T (n.319-1078C>T) c.514G>A (p.Val172Met) c.859G>A (p.Val287Met) c.*136C>T (n.*136C>T) n.760C>T | |
11 | g.72108683G>C | CA381724366 | ANAPC15,LRRC51,LRTOMT,TOMT | c.535G>C (p.Val179Leu) c.*45G>C (n.*45G>C) c.634G>C (p.Val212Leu) c.*353G>C (n.*353G>C) c.64-1078C>G (n.64-1078C>G) c.319-1078C>G (n.319-1078C>G) c.514G>C (p.Val172Leu) c.859G>C (p.Val287Leu) c.*136C>G (n.*136C>G) n.760C>G | |
11 | g.72108683G>T | CA381724364 | ANAPC15,LRRC51,LRTOMT,TOMT | c.535G>T (p.Val179Leu) c.*45G>T (n.*45G>T) c.634G>T (p.Val212Leu) c.*353G>T (n.*353G>T) c.64-1078C>A (n.64-1078C>A) c.319-1078C>A (n.319-1078C>A) c.514G>T (p.Val172Leu) c.859G>T (p.Val287Leu) c.*136C>A (n.*136C>A) n.760C>A | gnomAD v4 |
11 | g.72108684T>A | CA381724369 | ANAPC15,LRRC51,LRTOMT,TOMT | c.536T>A (p.Val179Glu) c.*46T>A (n.*46T>A) c.635T>A (p.Val212Glu) c.*354T>A (n.*354T>A) c.64-1079A>T (n.64-1079A>T) c.319-1079A>T (n.319-1079A>T) c.515T>A (p.Val172Glu) c.860T>A (p.Val287Glu) c.*135A>T (n.*135A>T) n.759A>T | |
11 | g.72108684T>C | CA381724375 | ANAPC15,LRRC51,LRTOMT,TOMT | c.536T>C (p.Val179Ala) c.*46T>C (n.*46T>C) c.635T>C (p.Val212Ala) c.*354T>C (n.*354T>C) c.64-1079A>G (n.64-1079A>G) c.319-1079A>G (n.319-1079A>G) c.515T>C (p.Val172Ala) c.860T>C (p.Val287Ala) c.*135A>G (n.*135A>G) n.759A>G | |
11 | g.72108684T>G | CA381724379 | ANAPC15,LRRC51,LRTOMT,TOMT | c.536T>G (p.Val179Gly) c.*46T>G (n.*46T>G) c.635T>G (p.Val212Gly) c.*354T>G (n.*354T>G) c.64-1079A>C (n.64-1079A>C) c.319-1079A>C (n.319-1079A>C) c.515T>G (p.Val172Gly) c.860T>G (p.Val287Gly) c.*135A>C (n.*135A>C) n.759A>C | |
11 | g.72108685G>A | CA475592542 | ANAPC15,LRRC51,LRTOMT,TOMT | c.537G>A (p.Val179=) c.*47G>A (n.*47G>A) c.636G>A (p.Val212=) c.*355G>A (n.*355G>A) c.64-1080C>T (n.64-1080C>T) c.319-1080C>T (n.319-1080C>T) c.516G>A (p.Val172=) c.861G>A (p.Val287=) c.*134C>T (n.*134C>T) n.758C>T | dbSNP |
11 | g.72108685G>C | CA475592543 | ANAPC15,LRRC51,LRTOMT,TOMT | c.537G>C (p.Val179=) c.*47G>C (n.*47G>C) c.636G>C (p.Val212=) c.*355G>C (n.*355G>C) c.64-1080C>G (n.64-1080C>G) c.319-1080C>G (n.319-1080C>G) c.516G>C (p.Val172=) c.861G>C (p.Val287=) c.*134C>G (n.*134C>G) n.758C>G | |
11 | g.72108685G= | CA1981841049 | ANAPC15,LRRC51,LRTOMT,TOMT | c.537G= (p.Val179=) c.*47G= (n.*47G=) c.636G= (p.Val212=) c.*355G= (n.*355G=) c.64-1080C= (n.64-1080C=) c.319-1080C= (n.319-1080C=) c.516G= (p.Val172=) c.861G= (p.Val287=) c.*134C= (n.*134C=) n.758C= | |
11 | g.72108685G>T | CA475592545 | ANAPC15,LRRC51,LRTOMT,TOMT | c.537G>T (p.Val179=) c.*47G>T (n.*47G>T) c.636G>T (p.Val212=) c.*355G>T (n.*355G>T) c.64-1080C>A (n.64-1080C>A) c.319-1080C>A (n.319-1080C>A) c.516G>T (p.Val172=) c.861G>T (p.Val287=) c.*134C>A (n.*134C>A) n.758C>A | gnomAD v4 |
11 | g.72108686C>A | CA381724388 | ANAPC15,LRRC51,LRTOMT,TOMT | c.538C>A (p.Leu180Ile) c.*48C>A (n.*48C>A) c.637C>A (p.Leu213Ile) c.*356C>A (n.*356C>A) c.64-1081G>T (n.64-1081G>T) c.319-1081G>T (n.319-1081G>T) c.517C>A (p.Leu173Ile) c.862C>A (p.Leu288Ile) c.*133G>T (n.*133G>T) n.757G>T | |
11 | g.72108686C>G | CA381724391 | ANAPC15,LRRC51,LRTOMT,TOMT | c.538C>G (p.Leu180Val) c.*48C>G (n.*48C>G) c.637C>G (p.Leu213Val) c.*356C>G (n.*356C>G) c.64-1081G>C (n.64-1081G>C) c.319-1081G>C (n.319-1081G>C) c.517C>G (p.Leu173Val) c.862C>G (p.Leu288Val) c.*133G>C (n.*133G>C) n.757G>C | |
11 | g.72108686C>T | CA381724397 | ANAPC15,LRRC51,LRTOMT,TOMT | c.538C>T (p.Leu180Phe) c.*48C>T (n.*48C>T) c.637C>T (p.Leu213Phe) c.*356C>T (n.*356C>T) c.64-1081G>A (n.64-1081G>A) c.319-1081G>A (n.319-1081G>A) c.517C>T (p.Leu173Phe) c.862C>T (p.Leu288Phe) c.*133G>A (n.*133G>A) n.757G>A | gnomAD v4 |
11 | g.72108687_72108688del | CA2614921665 | ANAPC15,LRRC51,LRTOMT,TOMT | c.539_540del (p.Leu180ProfsTer30) c.*49_*50del (n.*49_*50del) c.638_639del (p.Leu213ProfsTer30) c.*357_*358del (n.*357_*358del) c.64-1082_64-1081del (n.64-1082_64-1081del) c.319-1082_319-1081del (n.319-1082_319-1081del) c.518_519del (p.Leu173ProfsTer30) c.863_864del (p.Leu288ProfsTer30) c.*132_*133del (n.*132_*133del) n.756_757del | gnomAD v4 |
11 | g.72108687T>A | CA381724400 | ANAPC15,LRRC51,LRTOMT,TOMT | c.539T>A (p.Leu180His) c.*49T>A (n.*49T>A) c.638T>A (p.Leu213His) c.*357T>A (n.*357T>A) c.64-1082A>T (n.64-1082A>T) c.319-1082A>T (n.319-1082A>T) c.518T>A (p.Leu173His) c.863T>A (p.Leu288His) c.*132A>T (n.*132A>T) n.756A>T | |
11 | g.72108687T>C | CA381724404 | ANAPC15,LRRC51,LRTOMT,TOMT | c.539T>C (p.Leu180Pro) c.*49T>C (n.*49T>C) c.638T>C (p.Leu213Pro) c.*357T>C (n.*357T>C) c.64-1082A>G (n.64-1082A>G) c.319-1082A>G (n.319-1082A>G) c.518T>C (p.Leu173Pro) c.863T>C (p.Leu288Pro) c.*132A>G (n.*132A>G) n.756A>G | |
11 | g.72108687T>G | CA381724405 | ANAPC15,LRRC51,LRTOMT,TOMT | c.539T>G (p.Leu180Arg) c.*49T>G (n.*49T>G) c.638T>G (p.Leu213Arg) c.*357T>G (n.*357T>G) c.64-1082A>C (n.64-1082A>C) c.319-1082A>C (n.319-1082A>C) c.518T>G (p.Leu173Arg) c.863T>G (p.Leu288Arg) c.*132A>C (n.*132A>C) n.756A>C | |
11 | g.72108688C>A | CA475592549 | ANAPC15,LRRC51,LRTOMT,TOMT | c.540C>A (p.Leu180=) c.*50C>A (n.*50C>A) c.639C>A (p.Leu213=) c.*358C>A (n.*358C>A) c.64-1083G>T (n.64-1083G>T) c.319-1083G>T (n.319-1083G>T) c.519C>A (p.Leu173=) c.864C>A (p.Leu288=) c.*131G>T (n.*131G>T) n.755G>T | |
11 | g.72108688C>G | CA475592550 | ANAPC15,LRRC51,LRTOMT,TOMT | c.540C>G (p.Leu180=) c.*50C>G (n.*50C>G) c.639C>G (p.Leu213=) c.*358C>G (n.*358C>G) c.64-1083G>C (n.64-1083G>C) c.319-1083G>C (n.319-1083G>C) c.519C>G (p.Leu173=) c.864C>G (p.Leu288=) c.*131G>C (n.*131G>C) n.755G>C | |
11 | g.72108688C>T | CA475592551 | ANAPC15,LRRC51,LRTOMT,TOMT | c.540C>T (p.Leu180=) c.*50C>T (n.*50C>T) c.639C>T (p.Leu213=) c.*358C>T (n.*358C>T) c.64-1083G>A (n.64-1083G>A) c.319-1083G>A (n.319-1083G>A) c.519C>T (p.Leu173=) c.864C>T (p.Leu288=) c.*131G>A (n.*131G>A) n.755G>A | |
11 | g.72108689C>A | CA381724408 | ANAPC15,LRRC51,LRTOMT,TOMT | c.541C>A (p.Leu181Met) c.*51C>A (n.*51C>A) c.640C>A (p.Leu214Met) c.*359C>A (n.*359C>A) c.64-1084G>T (n.64-1084G>T) c.319-1084G>T (n.319-1084G>T) c.520C>A (p.Leu174Met) c.865C>A (p.Leu289Met) c.*130G>T (n.*130G>T) n.754G>T | |
11 | g.72108689C= | CA1981841050 | ANAPC15,LRRC51,LRTOMT,TOMT | c.541C= (p.Leu181=) c.*51C= (n.*51C=) c.640C= (p.Leu214=) c.*359C= (n.*359C=) c.64-1084G= (n.64-1084G=) c.319-1084G= (n.319-1084G=) c.520C= (p.Leu174=) c.865C= (p.Leu289=) c.*130G= (n.*130G=) n.754G= | |
11 | g.72108689C>G | CA381724411 | ANAPC15,LRRC51,LRTOMT,TOMT | c.541C>G (p.Leu181Val) c.*51C>G (n.*51C>G) c.640C>G (p.Leu214Val) c.*359C>G (n.*359C>G) c.64-1084G>C (n.64-1084G>C) c.319-1084G>C (n.319-1084G>C) c.520C>G (p.Leu174Val) c.865C>G (p.Leu289Val) c.*130G>C (n.*130G>C) n.754G>C | |
11 | g.72108689C>T | CA6168634 | ANAPC15,LRRC51,LRTOMT,TOMT | c.541C>T (p.Leu181=) c.*51C>T (n.*51C>T) c.640C>T (p.Leu214=) c.*359C>T (n.*359C>T) c.64-1084G>A (n.64-1084G>A) c.319-1084G>A (n.319-1084G>A) c.520C>T (p.Leu174=) c.865C>T (p.Leu289=) c.*130G>A (n.*130G>A) n.754G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108690T>A | CA381724452 | ANAPC15,LRRC51,LRTOMT,TOMT | c.542T>A (p.Leu181Gln) c.*52T>A (n.*52T>A) c.641T>A (p.Leu214Gln) c.*360T>A (n.*360T>A) c.64-1085A>T (n.64-1085A>T) c.319-1085A>T (n.319-1085A>T) c.521T>A (p.Leu174Gln) c.866T>A (p.Leu289Gln) c.*129A>T (n.*129A>T) n.753A>T | |
11 | g.72108690T>C | CA381724441 | ANAPC15,LRRC51,LRTOMT,TOMT | c.542T>C (p.Leu181Pro) c.*52T>C (n.*52T>C) c.641T>C (p.Leu214Pro) c.*360T>C (n.*360T>C) c.64-1085A>G (n.64-1085A>G) c.319-1085A>G (n.319-1085A>G) c.521T>C (p.Leu174Pro) c.866T>C (p.Leu289Pro) c.*129A>G (n.*129A>G) n.753A>G | COSMIC |
11 | g.72108690T>G | CA381724446 | ANAPC15,LRRC51,LRTOMT,TOMT | c.542T>G (p.Leu181Arg) c.*52T>G (n.*52T>G) c.641T>G (p.Leu214Arg) c.*360T>G (n.*360T>G) c.64-1085A>C (n.64-1085A>C) c.319-1085A>C (n.319-1085A>C) c.521T>G (p.Leu174Arg) c.866T>G (p.Leu289Arg) c.*129A>C (n.*129A>C) n.753A>C | |
11 | g.72108691G>A | CA475592554 | ANAPC15,LRRC51,LRTOMT,TOMT | c.543G>A (p.Leu181=) c.*53G>A (n.*53G>A) c.642G>A (p.Leu214=) c.*361G>A (n.*361G>A) c.64-1086C>T (n.64-1086C>T) c.319-1086C>T (n.319-1086C>T) c.522G>A (p.Leu174=) c.867G>A (p.Leu289=) c.*128C>T (n.*128C>T) n.752C>T | |
11 | g.72108691G>C | CA475592553 | ANAPC15,LRRC51,LRTOMT,TOMT | c.543G>C (p.Leu181=) c.*53G>C (n.*53G>C) c.642G>C (p.Leu214=) c.*361G>C (n.*361G>C) c.64-1086C>G (n.64-1086C>G) c.319-1086C>G (n.319-1086C>G) c.522G>C (p.Leu174=) c.867G>C (p.Leu289=) c.*128C>G (n.*128C>G) n.752C>G | |
11 | g.72108691G>T | CA475592552 | ANAPC15,LRRC51,LRTOMT,TOMT | c.543G>T (p.Leu181=) c.*53G>T (n.*53G>T) c.642G>T (p.Leu214=) c.*361G>T (n.*361G>T) c.64-1086C>A (n.64-1086C>A) c.319-1086C>A (n.319-1086C>A) c.522G>T (p.Leu174=) c.867G>T (p.Leu289=) c.*128C>A (n.*128C>A) n.752C>A | |
11 | g.72108692G>A | CA381724457 | ANAPC15,LRRC51,LRTOMT,TOMT | c.544G>A (p.Ala182Thr) c.*54G>A (n.*54G>A) c.643G>A (p.Ala215Thr) c.*362G>A (n.*362G>A) c.64-1087C>T (n.64-1087C>T) c.319-1087C>T (n.319-1087C>T) c.523G>A (p.Ala175Thr) c.868G>A (p.Ala290Thr) c.*127C>T (n.*127C>T) n.751C>T | gnomAD v4 |
11 | g.72108692G>C | CA381724460 | ANAPC15,LRRC51,LRTOMT,TOMT | c.544G>C (p.Ala182Pro) c.*54G>C (n.*54G>C) c.643G>C (p.Ala215Pro) c.*362G>C (n.*362G>C) c.64-1087C>G (n.64-1087C>G) c.319-1087C>G (n.319-1087C>G) c.523G>C (p.Ala175Pro) c.868G>C (p.Ala290Pro) c.*127C>G (n.*127C>G) n.751C>G | |
11 | g.72108692G>T | CA381724463 | ANAPC15,LRRC51,LRTOMT,TOMT | c.544G>T (p.Ala182Ser) c.*54G>T (n.*54G>T) c.643G>T (p.Ala215Ser) c.*362G>T (n.*362G>T) c.64-1087C>A (n.64-1087C>A) c.319-1087C>A (n.319-1087C>A) c.523G>T (p.Ala175Ser) c.868G>T (p.Ala290Ser) c.*127C>A (n.*127C>A) n.751C>A | |
11 | g.72108693C>A | CA381724473 | ANAPC15,LRRC51,LRTOMT,TOMT | c.545C>A (p.Ala182Glu) c.*55C>A (n.*55C>A) c.644C>A (p.Ala215Glu) c.*363C>A (n.*363C>A) c.64-1088G>T (n.64-1088G>T) c.319-1088G>T (n.319-1088G>T) c.524C>A (p.Ala175Glu) c.869C>A (p.Ala290Glu) c.*126G>T (n.*126G>T) n.750G>T | gnomAD v4 |
11 | g.72108693C>G | CA381724482 | ANAPC15,LRRC51,LRTOMT,TOMT | c.545C>G (p.Ala182Gly) c.*55C>G (n.*55C>G) c.644C>G (p.Ala215Gly) c.*363C>G (n.*363C>G) c.64-1088G>C (n.64-1088G>C) c.319-1088G>C (n.319-1088G>C) c.524C>G (p.Ala175Gly) c.869C>G (p.Ala290Gly) c.*126G>C (n.*126G>C) n.750G>C | |
11 | g.72108693C>T | CA381724490 | ANAPC15,LRRC51,LRTOMT,TOMT | c.545C>T (p.Ala182Val) c.*55C>T (n.*55C>T) c.644C>T (p.Ala215Val) c.*363C>T (n.*363C>T) c.64-1088G>A (n.64-1088G>A) c.319-1088G>A (n.319-1088G>A) c.524C>T (p.Ala175Val) c.869C>T (p.Ala290Val) c.*126G>A (n.*126G>A) n.750G>A | gnomAD v4 |
11 | g.72108694A= | CA1981841051 | ANAPC15,LRRC51,LRTOMT,TOMT | c.546A= (p.Ala182=) c.*56A= (n.*56A=) c.645A= (p.Ala215=) c.*364A= (n.*364A=) c.64-1089T= (n.64-1089T=) c.319-1089T= (n.319-1089T=) c.525A= (p.Ala175=) c.870A= (p.Ala290=) c.*125T= (n.*125T=) n.749T= | |
11 | g.72108694A>C | CA475592555 | ANAPC15,LRRC51,LRTOMT,TOMT | c.546A>C (p.Ala182=) c.*56A>C (n.*56A>C) c.645A>C (p.Ala215=) c.*364A>C (n.*364A>C) c.64-1089T>G (n.64-1089T>G) c.319-1089T>G (n.319-1089T>G) c.525A>C (p.Ala175=) c.870A>C (p.Ala290=) c.*125T>G (n.*125T>G) n.749T>G | |
11 | g.72108694A>G | CA224375594 | ANAPC15,LRRC51,LRTOMT,TOMT | c.546A>G (p.Ala182=) c.*56A>G (n.*56A>G) c.645A>G (p.Ala215=) c.*364A>G (n.*364A>G) c.64-1089T>C (n.64-1089T>C) c.319-1089T>C (n.319-1089T>C) c.525A>G (p.Ala175=) c.870A>G (p.Ala290=) c.*125T>C (n.*125T>C) n.749T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108694A>T | CA475592556 | ANAPC15,LRRC51,LRTOMT,TOMT | c.546A>T (p.Ala182=) c.*56A>T (n.*56A>T) c.645A>T (p.Ala215=) c.*364A>T (n.*364A>T) c.64-1089T>A (n.64-1089T>A) c.319-1089T>A (n.319-1089T>A) c.525A>T (p.Ala175=) c.870A>T (p.Ala290=) c.*125T>A (n.*125T>A) n.749T>A | |
11 | g.72108695C>A | CA381724491 | ANAPC15,LRRC51,LRTOMT,TOMT | c.547C>A (p.His183Asn) c.*57C>A (n.*57C>A) c.646C>A (p.His216Asn) c.*365C>A (n.*365C>A) c.64-1090G>T (n.64-1090G>T) c.319-1090G>T (n.319-1090G>T) c.526C>A (p.His176Asn) c.871C>A (p.His291Asn) c.*124G>T (n.*124G>T) n.748G>T | |
11 | g.72108695C>G | CA381724492 | ANAPC15,LRRC51,LRTOMT,TOMT | c.547C>G (p.His183Asp) c.*57C>G (n.*57C>G) c.646C>G (p.His216Asp) c.*365C>G (n.*365C>G) c.64-1090G>C (n.64-1090G>C) c.319-1090G>C (n.319-1090G>C) c.526C>G (p.His176Asp) c.871C>G (p.His291Asp) c.*124G>C (n.*124G>C) n.748G>C | |
11 | g.72108695C>T | CA381724495 | ANAPC15,LRRC51,LRTOMT,TOMT | c.547C>T (p.His183Tyr) c.*57C>T (n.*57C>T) c.646C>T (p.His216Tyr) c.*365C>T (n.*365C>T) c.64-1090G>A (n.64-1090G>A) c.319-1090G>A (n.319-1090G>A) c.526C>T (p.His176Tyr) c.871C>T (p.His291Tyr) c.*124G>A (n.*124G>A) n.748G>A | |
11 | g.72108696A= | CA1981841052 | ANAPC15,LRRC51,LRTOMT,TOMT | c.548A= (p.His183=) c.*58A= (n.*58A=) c.647A= (p.His216=) c.*366A= (n.*366A=) c.64-1091T= (n.64-1091T=) c.319-1091T= (n.319-1091T=) c.527A= (p.His176=) c.872A= (p.His291=) c.*123T= (n.*123T=) n.747T= | |
11 | g.72108696A>C | CA381724501 | ANAPC15,LRRC51,LRTOMT,TOMT | c.548A>C (p.His183Pro) c.*58A>C (n.*58A>C) c.647A>C (p.His216Pro) c.*366A>C (n.*366A>C) c.64-1091T>G (n.64-1091T>G) c.319-1091T>G (n.319-1091T>G) c.527A>C (p.His176Pro) c.872A>C (p.His291Pro) c.*123T>G (n.*123T>G) n.747T>G | dbSNP |
11 | g.72108696A>G | CA381724511 | ANAPC15,LRRC51,LRTOMT,TOMT | c.548A>G (p.His183Arg) c.*58A>G (n.*58A>G) c.647A>G (p.His216Arg) c.*366A>G (n.*366A>G) c.64-1091T>C (n.64-1091T>C) c.319-1091T>C (n.319-1091T>C) c.527A>G (p.His176Arg) c.872A>G (p.His291Arg) c.*123T>C (n.*123T>C) n.747T>C | gnomAD v4 |
11 | g.72108696A>T | CA381724515 | ANAPC15,LRRC51,LRTOMT,TOMT | c.548A>T (p.His183Leu) c.*58A>T (n.*58A>T) c.647A>T (p.His216Leu) c.*366A>T (n.*366A>T) c.64-1091T>A (n.64-1091T>A) c.319-1091T>A (n.319-1091T>A) c.527A>T (p.His176Leu) c.872A>T (p.His291Leu) c.*123T>A (n.*123T>A) n.747T>A | |
11 | g.72108697C>A | CA381724516 | ANAPC15,LRRC51,LRTOMT,TOMT | c.549C>A (p.His183Gln) c.*59C>A (n.*59C>A) c.648C>A (p.His216Gln) c.*367C>A (n.*367C>A) c.64-1092G>T (n.64-1092G>T) c.319-1092G>T (n.319-1092G>T) c.528C>A (p.His176Gln) c.873C>A (p.His291Gln) c.*122G>T (n.*122G>T) n.746G>T | |
11 | g.72108697C= | CA1981841053 | ANAPC15,LRRC51,LRTOMT,TOMT | c.549C= (p.His183=) c.*59C= (n.*59C=) c.648C= (p.His216=) c.*367C= (n.*367C=) c.64-1092G= (n.64-1092G=) c.319-1092G= (n.319-1092G=) c.528C= (p.His176=) c.873C= (p.His291=) c.*122G= (n.*122G=) n.746G= | |
11 | g.72108697C>G | CA381724517 | ANAPC15,LRRC51,LRTOMT,TOMT | c.549C>G (p.His183Gln) c.*59C>G (n.*59C>G) c.648C>G (p.His216Gln) c.*367C>G (n.*367C>G) c.64-1092G>C (n.64-1092G>C) c.319-1092G>C (n.319-1092G>C) c.528C>G (p.His176Gln) c.873C>G (p.His291Gln) c.*122G>C (n.*122G>C) n.746G>C | |
11 | g.72108697C>T | CA475592557 | ANAPC15,LRRC51,LRTOMT,TOMT | c.549C>T (p.His183=) c.*59C>T (n.*59C>T) c.648C>T (p.His216=) c.*367C>T (n.*367C>T) c.64-1092G>A (n.64-1092G>A) c.319-1092G>A (n.319-1092G>A) c.528C>T (p.His176=) c.873C>T (p.His291=) c.*122G>A (n.*122G>A) n.746G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72108698C>A | CA475592558 | ANAPC15,LRRC51,LRTOMT,TOMT | c.550C>A (p.Arg184=) c.*60C>A (n.*60C>A) c.649C>A (p.Arg217=) c.*368C>A (n.*368C>A) c.64-1093G>T (n.64-1093G>T) c.319-1093G>T (n.319-1093G>T) c.529C>A (p.Arg177=) c.874C>A (p.Arg292=) c.*121G>T (n.*121G>T) n.745G>T | |
11 | g.72108698C= | CA1981841054 | ANAPC15,LRRC51,LRTOMT,TOMT | c.550C= (p.Arg184=) c.*60C= (n.*60C=) c.649C= (p.Arg217=) c.*368C= (n.*368C=) c.64-1093G= (n.64-1093G=) c.319-1093G= (n.319-1093G=) c.529C= (p.Arg177=) c.874C= (p.Arg292=) c.*121G= (n.*121G=) n.745G= | |
11 | g.72108698C>G | CA381724519 | ANAPC15,LRRC51,LRTOMT,TOMT | c.550C>G (p.Arg184Gly) c.*60C>G (n.*60C>G) c.649C>G (p.Arg217Gly) c.*368C>G (n.*368C>G) c.64-1093G>C (n.64-1093G>C) c.319-1093G>C (n.319-1093G>C) c.529C>G (p.Arg177Gly) c.874C>G (p.Arg292Gly) c.*121G>C (n.*121G>C) n.745G>C | |
11 | g.72108698C>T | CA6168635 | ANAPC15,LRRC51,LRTOMT,TOMT | c.550C>T (p.Arg184Trp) c.*60C>T (n.*60C>T) c.649C>T (p.Arg217Trp) c.*368C>T (n.*368C>T) c.64-1093G>A (n.64-1093G>A) c.319-1093G>A (n.319-1093G>A) c.529C>T (p.Arg177Trp) c.874C>T (p.Arg292Trp) c.*121G>A (n.*121G>A) n.745G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108699G>A | CA6168636 | ANAPC15,LRRC51,LRTOMT,TOMT | c.551G>A (p.Arg184Gln) c.*61G>A (n.*61G>A) c.650G>A (p.Arg217Gln) c.*369G>A (n.*369G>A) c.64-1094C>T (n.64-1094C>T) c.319-1094C>T (n.319-1094C>T) c.530G>A (p.Arg177Gln) c.875G>A (p.Arg292Gln) c.*120C>T (n.*120C>T) n.744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108699G>C | CA381724522 | ANAPC15,LRRC51,LRTOMT,TOMT | c.551G>C (p.Arg184Pro) c.*61G>C (n.*61G>C) c.650G>C (p.Arg217Pro) c.*369G>C (n.*369G>C) c.64-1094C>G (n.64-1094C>G) c.319-1094C>G (n.319-1094C>G) c.530G>C (p.Arg177Pro) c.875G>C (p.Arg292Pro) c.*120C>G (n.*120C>G) n.744C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.72108699G= | CA1981841055 | ANAPC15,LRRC51,LRTOMT,TOMT | c.551G= (p.Arg184=) c.*61G= (n.*61G=) c.650G= (p.Arg217=) c.*369G= (n.*369G=) c.64-1094C= (n.64-1094C=) c.319-1094C= (n.319-1094C=) c.530G= (p.Arg177=) c.875G= (p.Arg292=) c.*120C= (n.*120C=) n.744C= | |
11 | g.72108699G>T | CA381724521 | ANAPC15,LRRC51,LRTOMT,TOMT | c.551G>T (p.Arg184Leu) c.*61G>T (n.*61G>T) c.650G>T (p.Arg217Leu) c.*369G>T (n.*369G>T) c.64-1094C>A (n.64-1094C>A) c.319-1094C>A (n.319-1094C>A) c.530G>T (p.Arg177Leu) c.875G>T (p.Arg292Leu) c.*120C>A (n.*120C>A) n.744C>A | dbSNP gnomAD v4 |
11 | g.72108700G>A | CA475592559 | ANAPC15,LRRC51,LRTOMT,TOMT | c.552G>A (p.Arg184=) c.*62G>A (n.*62G>A) c.651G>A (p.Arg217=) c.*370G>A (n.*370G>A) c.64-1095C>T (n.64-1095C>T) c.319-1095C>T (n.319-1095C>T) c.531G>A (p.Arg177=) c.876G>A (p.Arg292=) c.*119C>T (n.*119C>T) n.743C>T | gnomAD v4 |
11 | g.72108700G>C | CA475592560 | ANAPC15,LRRC51,LRTOMT,TOMT | c.552G>C (p.Arg184=) c.*62G>C (n.*62G>C) c.651G>C (p.Arg217=) c.*370G>C (n.*370G>C) c.64-1095C>G (n.64-1095C>G) c.319-1095C>G (n.319-1095C>G) c.531G>C (p.Arg177=) c.876G>C (p.Arg292=) c.*119C>G (n.*119C>G) n.743C>G | |
11 | g.72108700G>T | CA475592561 | ANAPC15,LRRC51,LRTOMT,TOMT | c.552G>T (p.Arg184=) c.*62G>T (n.*62G>T) c.651G>T (p.Arg217=) c.*370G>T (n.*370G>T) c.64-1095C>A (n.64-1095C>A) c.319-1095C>A (n.319-1095C>A) c.531G>T (p.Arg177=) c.876G>T (p.Arg292=) c.*119C>A (n.*119C>A) n.743C>A | gnomAD v4 |
11 | g.72108701C>A | CA381724523 | ANAPC15,LRRC51,LRTOMT,TOMT | c.553C>A (p.Pro185Thr) c.*63C>A (n.*63C>A) c.652C>A (p.Pro218Thr) c.*371C>A (n.*371C>A) c.64-1096G>T (n.64-1096G>T) c.319-1096G>T (n.319-1096G>T) c.532C>A (p.Pro178Thr) c.877C>A (p.Pro293Thr) c.*118G>T (n.*118G>T) n.742G>T | |
11 | g.72108701C>G | CA381724534 | ANAPC15,LRRC51,LRTOMT,TOMT | c.553C>G (p.Pro185Ala) c.*63C>G (n.*63C>G) c.652C>G (p.Pro218Ala) c.*371C>G (n.*371C>G) c.64-1096G>C (n.64-1096G>C) c.319-1096G>C (n.319-1096G>C) c.532C>G (p.Pro178Ala) c.877C>G (p.Pro293Ala) c.*118G>C (n.*118G>C) n.742G>C | |
11 | g.72108701C>T | CA381724538 | ANAPC15,LRRC51,LRTOMT,TOMT | c.553C>T (p.Pro185Ser) c.*63C>T (n.*63C>T) c.652C>T (p.Pro218Ser) c.*371C>T (n.*371C>T) c.64-1096G>A (n.64-1096G>A) c.319-1096G>A (n.319-1096G>A) c.532C>T (p.Pro178Ser) c.877C>T (p.Pro293Ser) c.*118G>A (n.*118G>A) n.742G>A | |
11 | g.72108702C>A | CA381724542 | ANAPC15,LRRC51,LRTOMT,TOMT | c.554C>A (p.Pro185Gln) c.*64C>A (n.*64C>A) c.653C>A (p.Pro218Gln) c.*372C>A (n.*372C>A) c.64-1097G>T (n.64-1097G>T) c.319-1097G>T (n.319-1097G>T) c.533C>A (p.Pro178Gln) c.878C>A (p.Pro293Gln) c.*117G>T (n.*117G>T) n.741G>T | gnomAD v4 |
11 | g.72108702C>G | CA381724543 | ANAPC15,LRRC51,LRTOMT,TOMT | c.554C>G (p.Pro185Arg) c.*64C>G (n.*64C>G) c.653C>G (p.Pro218Arg) c.*372C>G (n.*372C>G) c.64-1097G>C (n.64-1097G>C) c.319-1097G>C (n.319-1097G>C) c.533C>G (p.Pro178Arg) c.878C>G (p.Pro293Arg) c.*117G>C (n.*117G>C) n.741G>C | COSMIC |
11 | g.72108702C>T | CA381724545 | ANAPC15,LRRC51,LRTOMT,TOMT | c.554C>T (p.Pro185Leu) c.*64C>T (n.*64C>T) c.653C>T (p.Pro218Leu) c.*372C>T (n.*372C>T) c.64-1097G>A (n.64-1097G>A) c.319-1097G>A (n.319-1097G>A) c.533C>T (p.Pro178Leu) c.878C>T (p.Pro293Leu) c.*117G>A (n.*117G>A) n.741G>A | |
11 | g.72108703A>C | CA475592562 | ANAPC15,LRRC51,LRTOMT,TOMT | c.555A>C (p.Pro185=) c.*65A>C (n.*65A>C) c.654A>C (p.Pro218=) c.*373A>C (n.*373A>C) c.64-1098T>G (n.64-1098T>G) c.319-1098T>G (n.319-1098T>G) c.534A>C (p.Pro178=) c.879A>C (p.Pro293=) c.*116T>G (n.*116T>G) n.740T>G | |
11 | g.72108703A>G | CA475592563 | ANAPC15,LRRC51,LRTOMT,TOMT | c.555A>G (p.Pro185=) c.*65A>G (n.*65A>G) c.654A>G (p.Pro218=) c.*373A>G (n.*373A>G) c.64-1098T>C (n.64-1098T>C) c.319-1098T>C (n.319-1098T>C) c.534A>G (p.Pro178=) c.879A>G (p.Pro293=) c.*116T>C (n.*116T>C) n.740T>C | |
11 | g.72108703A>T | CA475592564 | ANAPC15,LRRC51,LRTOMT,TOMT | c.555A>T (p.Pro185=) c.*65A>T (n.*65A>T) c.654A>T (p.Pro218=) c.*373A>T (n.*373A>T) c.64-1098T>A (n.64-1098T>A) c.319-1098T>A (n.319-1098T>A) c.534A>T (p.Pro178=) c.879A>T (p.Pro293=) c.*116T>A (n.*116T>A) n.740T>A | |
11 | g.72108704C>A | CA475592565 | ANAPC15,LRRC51,LRTOMT,TOMT | c.556C>A (p.Arg186=) c.*66C>A (n.*66C>A) c.655C>A (p.Arg219=) c.*374C>A (n.*374C>A) c.64-1099G>T (n.64-1099G>T) c.319-1099G>T (n.319-1099G>T) c.535C>A (p.Arg179=) c.880C>A (p.Arg294=) c.*115G>T (n.*115G>T) n.739G>T | |
11 | g.72108704C= | CA1981841056 | ANAPC15,LRRC51,LRTOMT,TOMT | c.556C= (p.Arg186=) c.*66C= (n.*66C=) c.655C= (p.Arg219=) c.*374C= (n.*374C=) c.64-1099G= (n.64-1099G=) c.319-1099G= (n.319-1099G=) c.535C= (p.Arg179=) c.880C= (p.Arg294=) c.*115G= (n.*115G=) n.739G= | |
11 | g.72108704C>G | CA381724548 | ANAPC15,LRRC51,LRTOMT,TOMT | c.556C>G (p.Arg186Gly) c.*66C>G (n.*66C>G) c.655C>G (p.Arg219Gly) c.*374C>G (n.*374C>G) c.64-1099G>C (n.64-1099G>C) c.319-1099G>C (n.319-1099G>C) c.535C>G (p.Arg179Gly) c.880C>G (p.Arg294Gly) c.*115G>C (n.*115G>C) n.739G>C | |
11 | g.72108704C>T | CA224375602 | ANAPC15,LRRC51,LRTOMT,TOMT | c.556C>T (p.Arg186Ter) c.*66C>T (n.*66C>T) c.655C>T (p.Arg219Ter) c.*374C>T (n.*374C>T) c.64-1099G>A (n.64-1099G>A) c.319-1099G>A (n.319-1099G>A) c.535C>T (p.Arg179Ter) c.880C>T (p.Arg294Ter) c.*115G>A (n.*115G>A) n.739G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.72108704_72108707delinsCGAT | CA1981841057 | ANAPC15,LRRC51,LRTOMT,TOMT | c.556_559delinsCGAT (p.Arg186=) c.*66_*69delinsCGAT (n.*66_*69delinsCGAT) c.655_658delinsCGAT (p.Arg219=) c.*374_*377delinsCGAT (n.*374_*377delinsCGAT) c.64-1102_64-1099delinsATCG (n.64-1102_64-1099delinsATCG) c.319-1102_319-1099delinsATCG (n.319-1102_319-1099delinsATCG) c.535_538delinsCGAT (p.Arg179=) c.880_883delinsCGAT (p.Arg294=) c.*112_*115delinsATCG (n.*112_*115delinsATCG) n.736_739delinsATCG | |
11 | g.72108705G>A | CA381724554 | ANAPC15,LRRC51,LRTOMT,TOMT | c.557G>A (p.Arg186Gln) c.*67G>A (n.*67G>A) c.656G>A (p.Arg219Gln) c.*375G>A (n.*375G>A) c.64-1100C>T (n.64-1100C>T) c.319-1100C>T (n.319-1100C>T) c.536G>A (p.Arg179Gln) c.881G>A (p.Arg294Gln) c.*114C>T (n.*114C>T) n.738C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72108705G>C | CA381724555 | ANAPC15,LRRC51,LRTOMT,TOMT | c.557G>C (p.Arg186Pro) c.*67G>C (n.*67G>C) c.656G>C (p.Arg219Pro) c.*375G>C (n.*375G>C) c.64-1100C>G (n.64-1100C>G) c.319-1100C>G (n.319-1100C>G) c.536G>C (p.Arg179Pro) c.881G>C (p.Arg294Pro) c.*114C>G (n.*114C>G) n.738C>G | |
11 | g.72108705G= | CA1981841059 | ANAPC15,LRRC51,LRTOMT,TOMT | c.557G= (p.Arg186=) c.*67G= (n.*67G=) c.656G= (p.Arg219=) c.*375G= (n.*375G=) c.64-1100C= (n.64-1100C=) c.319-1100C= (n.319-1100C=) c.536G= (p.Arg179=) c.881G= (p.Arg294=) c.*114C= (n.*114C=) n.738C= | |
11 | g.72108705G>T | CA381724557 | ANAPC15,LRRC51,LRTOMT,TOMT | c.557G>T (p.Arg186Leu) c.*67G>T (n.*67G>T) c.656G>T (p.Arg219Leu) c.*375G>T (n.*375G>T) c.64-1100C>A (n.64-1100C>A) c.319-1100C>A (n.319-1100C>A) c.536G>T (p.Arg179Leu) c.881G>T (p.Arg294Leu) c.*114C>A (n.*114C>A) n.738C>A | gnomAD v4 |
11 | g.72108706_72108708del | CA1981841058 | ANAPC15,LRRC51,LRTOMT,TOMT | c.558_560del (p.Cys187del) c.*68_*70del (n.*68_*70del) c.657_659del (p.Cys220del) c.*376_*378del (n.*376_*378del) c.64-1102_64-1100del (n.64-1102_64-1100del) c.319-1102_319-1100del (n.319-1102_319-1100del) c.537_539del (p.Cys180del) c.882_884del (p.Cys295del) c.*112_*114del (n.*112_*114del) n.736_738del | dbSNP gnomAD v4 |
11 | g.72108706A>C | CA475592566 | ANAPC15,LRRC51,LRTOMT,TOMT | c.558A>C (p.Arg186=) c.*68A>C (n.*68A>C) c.657A>C (p.Arg219=) c.*376A>C (n.*376A>C) c.64-1101T>G (n.64-1101T>G) c.319-1101T>G (n.319-1101T>G) c.537A>C (p.Arg179=) c.882A>C (p.Arg294=) c.*113T>G (n.*113T>G) n.737T>G | |
11 | g.72108706A>G | CA475592567 | ANAPC15,LRRC51,LRTOMT,TOMT | c.558A>G (p.Arg186=) c.*68A>G (n.*68A>G) c.657A>G (p.Arg219=) c.*376A>G (n.*376A>G) c.64-1101T>C (n.64-1101T>C) c.319-1101T>C (n.319-1101T>C) c.537A>G (p.Arg179=) c.882A>G (p.Arg294=) c.*113T>C (n.*113T>C) n.737T>C | gnomAD v4 |
11 | g.72108706A>T | CA475592568 | ANAPC15,LRRC51,LRTOMT,TOMT | c.558A>T (p.Arg186=) c.*68A>T (n.*68A>T) c.657A>T (p.Arg219=) c.*376A>T (n.*376A>T) c.64-1101T>A (n.64-1101T>A) c.319-1101T>A (n.319-1101T>A) c.537A>T (p.Arg179=) c.882A>T (p.Arg294=) c.*113T>A (n.*113T>A) n.737T>A |