Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154860536_154860538delinsCCTCA2466815010F8c.6794_6796delinsAGG (p.Gln2265=)
c.527_529delinsAGG (p.Gln176=)
c.389_391delinsAGG (p.Gln130=)
c.6689_6691delinsAGG (p.Gln2230=)
Xg.154860537_154860538delCA255220F8c.6794_6795del (p.Gln2265ArgfsTer?)
c.527_528del (p.Gln176ArgfsTer?)
c.389_390del (p.Gln130ArgfsTer?)
c.6689_6690del (p.Gln2230ArgfsTer?)
 ClinVar dbSNP
Xg.154860538delCA2695237135F8c.6794del (p.Gln2265ArgfsTer3)
c.527del (p.Gln176ArgfsTer3)
c.389del (p.Gln130ArgfsTer3)
c.6689del (p.Gln2230ArgfsTer3)
Xg.154860538T>ACA414904181F8c.6794A>T (p.Gln2265Leu)
c.527A>T (p.Gln176Leu)
c.389A>T (p.Gln130Leu)
c.6689A>T (p.Gln2230Leu)
Xg.154860538T>CCA255219F8c.6794A>G (p.Gln2265Arg)
c.527A>G (p.Gln176Arg)
c.389A>G (p.Gln130Arg)
c.6689A>G (p.Gln2230Arg)
 ClinVar dbSNP gnomAD v4
Xg.154860538T>GCA414904180F8c.6794A>C (p.Gln2265Pro)
c.527A>C (p.Gln176Pro)
c.389A>C (p.Gln130Pro)
c.6689A>C (p.Gln2230Pro)
Xg.154860538T=CA2466815013F8c.6794A= (p.Gln2265=)
c.527A= (p.Gln176=)
c.389A= (p.Gln130=)
c.6689A= (p.Gln2230=)
Xg.154860539G>ACA414904188F8c.6793C>T (p.Gln2265Ter)
c.526C>T (p.Gln176Ter)
c.388C>T (p.Gln130Ter)
c.6688C>T (p.Gln2230Ter)
Xg.154860539G>CCA414904195F8c.6793C>G (p.Gln2265Glu)
c.526C>G (p.Gln176Glu)
c.388C>G (p.Gln130Glu)
c.6688C>G (p.Gln2230Glu)
 COSMIC COSMIC
Xg.154860539G>TCA414904200F8c.6793C>A (p.Gln2265Lys)
c.526C>A (p.Gln176Lys)
c.388C>A (p.Gln130Lys)
c.6688C>A (p.Gln2230Lys)
Xg.154860540A>CCA519356230F8c.6792T>G (p.Thr2264=)
c.525T>G (p.Thr175=)
c.387T>G (p.Thr129=)
c.6687T>G (p.Thr2229=)
Xg.154860540A>GCA519356227F8c.6792T>C (p.Thr2264=)
c.525T>C (p.Thr175=)
c.387T>C (p.Thr129=)
c.6687T>C (p.Thr2229=)
 gnomAD v4
Xg.154860540A>TCA519356228F8c.6792T>A (p.Thr2264=)
c.525T>A (p.Thr175=)
c.387T>A (p.Thr129=)
c.6687T>A (p.Thr2229=)
Xg.154860541G>ACA414904204F8c.6791C>T (p.Thr2264Ile)
c.524C>T (p.Thr175Ile)
c.386C>T (p.Thr129Ile)
c.6686C>T (p.Thr2229Ile)
 dbSNP
Xg.154860541G>CCA414904206F8c.6791C>G (p.Thr2264Ser)
c.524C>G (p.Thr175Ser)
c.386C>G (p.Thr129Ser)
c.6686C>G (p.Thr2229Ser)
Xg.154860541G=CA2466815014F8c.6791C= (p.Thr2264=)
c.524C= (p.Thr175=)
c.386C= (p.Thr129=)
c.6686C= (p.Thr2229=)
Xg.154860541G>TCA414904208F8c.6791C>A (p.Thr2264Asn)
c.524C>A (p.Thr175Asn)
c.386C>A (p.Thr129Asn)
c.6686C>A (p.Thr2229Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860542T>ACA414904231F8c.6790A>T (p.Thr2264Ser)
c.523A>T (p.Thr175Ser)
c.385A>T (p.Thr129Ser)
c.6685A>T (p.Thr2229Ser)
Xg.154860542T>CCA414904250F8c.6790A>G (p.Thr2264Ala)
c.523A>G (p.Thr175Ala)
c.385A>G (p.Thr129Ala)
c.6685A>G (p.Thr2229Ala)
Xg.154860542T>GCA414904257F8c.6790A>C (p.Thr2264Pro)
c.523A>C (p.Thr175Pro)
c.385A>C (p.Thr129Pro)
c.6685A>C (p.Thr2229Pro)
Xg.154860544_154860547dupCA2695167719F8c.6787_6790dup (p.Thr2264AsnfsTer?)
c.520_523dup (p.Thr175AsnfsTer?)
c.382_385dup (p.Thr129AsnfsTer?)
c.6682_6685dup (p.Thr2229AsnfsTer?)
 gnomAD v4
Xg.154860543A>CCA519356232F8c.6789T>G (p.Thr2263=)
c.522T>G (p.Thr174=)
c.384T>G (p.Thr128=)
c.6684T>G (p.Thr2228=)
Xg.154860543A>GCA519356235F8c.6789T>C (p.Thr2263=)
c.522T>C (p.Thr174=)
c.384T>C (p.Thr128=)
c.6684T>C (p.Thr2228=)
 gnomAD v4
Xg.154860543A>TCA519356234F8c.6789T>A (p.Thr2263=)
c.522T>A (p.Thr174=)
c.384T>A (p.Thr128=)
c.6684T>A (p.Thr2228=)
Xg.154860544G>ACA414904263F8c.6788C>T (p.Thr2263Ile)
c.521C>T (p.Thr174Ile)
c.383C>T (p.Thr128Ile)
c.6683C>T (p.Thr2228Ile)
Xg.154860544G>CCA414904268F8c.6788C>G (p.Thr2263Ser)
c.521C>G (p.Thr174Ser)
c.383C>G (p.Thr128Ser)
c.6683C>G (p.Thr2228Ser)
Xg.154860544G>TCA414904275F8c.6788C>A (p.Thr2263Asn)
c.521C>A (p.Thr174Asn)
c.383C>A (p.Thr128Asn)
c.6683C>A (p.Thr2228Asn)
Xg.154860544_154860546dupCA2695237137F8c.6786_6788dup (p.Thr2263_Thr2264insThr)
c.519_521dup (p.Thr174_Thr175insThr)
c.381_383dup (p.Thr128_Thr129insThr)
c.6681_6683dup (p.Thr2228_Thr2229insThr)
Xg.154860546_154860554delCA2695237136F8c.6780_6788del (p.Gly2261_Thr2263del)
c.513_521del (p.Gly172_Thr174del)
c.375_383del (p.Gly126_Thr128del)
c.6675_6683del (p.Gly2226_Thr2228del)
Xg.154860545T>ACA414904286F8c.6787A>T (p.Thr2263Ser)
c.520A>T (p.Thr174Ser)
c.382A>T (p.Thr128Ser)
c.6682A>T (p.Thr2228Ser)
Xg.154860545T>CCA414904282F8c.6787A>G (p.Thr2263Ala)
c.520A>G (p.Thr174Ala)
c.382A>G (p.Thr128Ala)
c.6682A>G (p.Thr2228Ala)
Xg.154860545T>GCA414904280F8c.6787A>C (p.Thr2263Pro)
c.520A>C (p.Thr174Pro)
c.382A>C (p.Thr128Pro)
c.6682A>C (p.Thr2228Pro)
Xg.154860546T>ACA519356237F8c.6786A>T (p.Val2262=)
c.519A>T (p.Val173=)
c.381A>T (p.Val127=)
c.6681A>T (p.Val2227=)
Xg.154860546T>CCA519356238F8c.6786A>G (p.Val2262=)
c.519A>G (p.Val173=)
c.381A>G (p.Val127=)
c.6681A>G (p.Val2227=)
 dbSNP
Xg.154860546T>GCA519356240F8c.6786A>C (p.Val2262=)
c.519A>C (p.Val173=)
c.381A>C (p.Val127=)
c.6681A>C (p.Val2227=)
Xg.154860546T=CA2466815015F8c.6786A= (p.Val2262=)
c.519A= (p.Val173=)
c.381A= (p.Val127=)
c.6681A= (p.Val2227=)
Xg.154860547A>CCA414904291F8c.6785T>G (p.Val2262Gly)
c.518T>G (p.Val173Gly)
c.380T>G (p.Val127Gly)
c.6680T>G (p.Val2227Gly)
Xg.154860547A>GCA414904293F8c.6785T>C (p.Val2262Ala)
c.518T>C (p.Val173Ala)
c.380T>C (p.Val127Ala)
c.6680T>C (p.Val2227Ala)
Xg.154860547A>TCA414904295F8c.6785T>A (p.Val2262Glu)
c.518T>A (p.Val173Glu)
c.380T>A (p.Val127Glu)
c.6680T>A (p.Val2227Glu)
Xg.154860548C>ACA414904305F8c.6784G>T (p.Val2262Leu)
c.517G>T (p.Val173Leu)
c.379G>T (p.Val127Leu)
c.6679G>T (p.Val2227Leu)
Xg.154860548C>GCA414904329F8c.6784G>C (p.Val2262Leu)
c.517G>C (p.Val173Leu)
c.379G>C (p.Val127Leu)
c.6679G>C (p.Val2227Leu)
Xg.154860548C>TCA414904337F8c.6784G>A (p.Val2262Ile)
c.517G>A (p.Val173Ile)
c.379G>A (p.Val127Ile)
c.6679G>A (p.Val2227Ile)
Xg.154860549T>ACA519356241F8c.6783A>T (p.Gly2261=)
c.516A>T (p.Gly172=)
c.378A>T (p.Gly126=)
c.6678A>T (p.Gly2226=)
Xg.154860549T>CCA519356242F8c.6783A>G (p.Gly2261=)
c.516A>G (p.Gly172=)
c.378A>G (p.Gly126=)
c.6678A>G (p.Gly2226=)
Xg.154860549T>GCA519356244F8c.6783A>C (p.Gly2261=)
c.516A>C (p.Gly172=)
c.378A>C (p.Gly126=)
c.6678A>C (p.Gly2226=)
Xg.154860550C>ACA414904343F8c.6782G>T (p.Gly2261Val)
c.515G>T (p.Gly172Val)
c.377G>T (p.Gly126Val)
c.6677G>T (p.Gly2226Val)
Xg.154860550C>GCA414904358F8c.6782G>C (p.Gly2261Ala)
c.515G>C (p.Gly172Ala)
c.377G>C (p.Gly126Ala)
c.6677G>C (p.Gly2226Ala)
Xg.154860550C>TCA414904362F8c.6782G>A (p.Gly2261Glu)
c.515G>A (p.Gly172Glu)
c.377G>A (p.Gly126Glu)
c.6677G>A (p.Gly2226Glu)
Xg.154860551C>ACA414904371F8c.6781G>T (p.Gly2261Ter)
c.514G>T (p.Gly172Ter)
c.376G>T (p.Gly126Ter)
c.6676G>T (p.Gly2226Ter)
Xg.154860551C>GCA414904373F8c.6781G>C (p.Gly2261Arg)
c.514G>C (p.Gly172Arg)
c.376G>C (p.Gly126Arg)
c.6676G>C (p.Gly2226Arg)
Xg.154860551C>TCA414904375F8c.6781G>A (p.Gly2261Arg)
c.514G>A (p.Gly172Arg)
c.376G>A (p.Gly126Arg)
c.6676G>A (p.Gly2226Arg)
Xg.154860552T>ACA519356245F8c.6780A>T (p.Thr2260=)
c.513A>T (p.Thr171=)
c.375A>T (p.Thr125=)
c.6675A>T (p.Thr2225=)
Xg.154860552T>CCA519356247F8c.6780A>G (p.Thr2260=)
c.513A>G (p.Thr171=)
c.375A>G (p.Thr125=)
c.6675A>G (p.Thr2225=)
Xg.154860552T>GCA519356248F8c.6780A>C (p.Thr2260=)
c.513A>C (p.Thr171=)
c.375A>C (p.Thr125=)
c.6675A>C (p.Thr2225=)
Xg.154860553G>ACA414904382F8c.6779C>T (p.Thr2260Ile)
c.512C>T (p.Thr171Ile)
c.374C>T (p.Thr125Ile)
c.6674C>T (p.Thr2225Ile)
 gnomAD v4
Xg.154860553G>CCA414904378F8c.6779C>G (p.Thr2260Arg)
c.512C>G (p.Thr171Arg)
c.374C>G (p.Thr125Arg)
c.6674C>G (p.Thr2225Arg)
Xg.154860553G>TCA414904380F8c.6779C>A (p.Thr2260Lys)
c.512C>A (p.Thr171Lys)
c.374C>A (p.Thr125Lys)
c.6674C>A (p.Thr2225Lys)
Xg.154860554T>ACA414904385F8c.6778A>T (p.Thr2260Ser)
c.511A>T (p.Thr171Ser)
c.373A>T (p.Thr125Ser)
c.6673A>T (p.Thr2225Ser)
Xg.154860554T>CCA414904387F8c.6778A>G (p.Thr2260Ala)
c.511A>G (p.Thr171Ala)
c.373A>G (p.Thr125Ala)
c.6673A>G (p.Thr2225Ala)
Xg.154860554T>GCA414904388F8c.6778A>C (p.Thr2260Pro)
c.511A>C (p.Thr171Pro)
c.373A>C (p.Thr125Pro)
c.6673A>C (p.Thr2225Pro)
Xg.154860555G>ACA519356249F8c.6777C>T (p.Val2259=)
c.510C>T (p.Val170=)
c.372C>T (p.Val124=)
c.6672C>T (p.Val2224=)
Xg.154860555G>CCA519356251F8c.6777C>G (p.Val2259=)
c.510C>G (p.Val170=)
c.372C>G (p.Val124=)
c.6672C>G (p.Val2224=)
Xg.154860555G>TCA519356252F8c.6777C>A (p.Val2259=)
c.510C>A (p.Val170=)
c.372C>A (p.Val124=)
c.6672C>A (p.Val2224=)
Xg.154860556A=CA2466815016F8c.6776T= (p.Val2259=)
c.509T= (p.Val170=)
c.371T= (p.Val124=)
c.6671T= (p.Val2224=)
Xg.154860556A>CCA414904391F8c.6776T>G (p.Val2259Gly)
c.509T>G (p.Val170Gly)
c.371T>G (p.Val124Gly)
c.6671T>G (p.Val2224Gly)
Xg.154860556A>GCA414904397F8c.6776T>C (p.Val2259Ala)
c.509T>C (p.Val170Ala)
c.371T>C (p.Val124Ala)
c.6671T>C (p.Val2224Ala)
Xg.154860556A>TCA414904400F8c.6776T>A (p.Val2259Asp)
c.509T>A (p.Val170Asp)
c.371T>A (p.Val124Asp)
c.6671T>A (p.Val2224Asp)
 ClinVar dbSNP
Xg.154860557C>ACA414904404F8c.6775G>T (p.Val2259Phe)
c.508G>T (p.Val170Phe)
c.370G>T (p.Val124Phe)
c.6670G>T (p.Val2224Phe)
 dbSNP
Xg.154860557C=CA2466815017F8c.6775G= (p.Val2259=)
c.508G= (p.Val170=)
c.370G= (p.Val124=)
c.6670G= (p.Val2224=)
Xg.154860557C>GCA414904410F8c.6775G>C (p.Val2259Leu)
c.508G>C (p.Val170Leu)
c.370G>C (p.Val124Leu)
c.6670G>C (p.Val2224Leu)
 gnomAD v4
Xg.154860557C>TCA414904414F8c.6775G>A (p.Val2259Ile)
c.508G>A (p.Val170Ile)
c.370G>A (p.Val124Ile)
c.6670G>A (p.Val2224Ile)
Xg.154860558T>ACA414904420F8c.6774A>T (p.Lys2258Asn)
c.507A>T (p.Lys169Asn)
c.369A>T (p.Lys123Asn)
c.6669A>T (p.Lys2223Asn)
Xg.154860558T>CCA519356254F8c.6774A>G (p.Lys2258=)
c.507A>G (p.Lys169=)
c.369A>G (p.Lys123=)
c.6669A>G (p.Lys2223=)
Xg.154860558T>GCA414904423F8c.6774A>C (p.Lys2258Asn)
c.507A>C (p.Lys169Asn)
c.369A>C (p.Lys123Asn)
c.6669A>C (p.Lys2223Asn)
 dbSNP
Xg.154860558T=CA2466815018F8c.6774A= (p.Lys2258=)
c.507A= (p.Lys169=)
c.369A= (p.Lys123=)
c.6669A= (p.Lys2223=)
Xg.154860559T>ACA414904431F8c.6773A>T (p.Lys2258Ile)
c.506A>T (p.Lys169Ile)
c.368A>T (p.Lys123Ile)
c.6668A>T (p.Lys2223Ile)
Xg.154860559T>CCA414904427F8c.6773A>G (p.Lys2258Arg)
c.506A>G (p.Lys169Arg)
c.368A>G (p.Lys123Arg)
c.6668A>G (p.Lys2223Arg)
Xg.154860559T>GCA414904426F8c.6773A>C (p.Lys2258Thr)
c.506A>C (p.Lys169Thr)
c.368A>C (p.Lys123Thr)
c.6668A>C (p.Lys2223Thr)
Xg.154860560T>ACA414904435F8c.6772A>T (p.Lys2258Ter)
c.505A>T (p.Lys169Ter)
c.367A>T (p.Lys123Ter)
c.6667A>T (p.Lys2223Ter)
 dbSNP
Xg.154860560T>CCA414904444F8c.6772A>G (p.Lys2258Glu)
c.505A>G (p.Lys169Glu)
c.367A>G (p.Lys123Glu)
c.6667A>G (p.Lys2223Glu)
 dbSNP
Xg.154860560T>GCA414904441F8c.6772A>C (p.Lys2258Gln)
c.505A>C (p.Lys169Gln)
c.367A>C (p.Lys123Gln)
c.6667A>C (p.Lys2223Gln)
Xg.154860560T=CA2466815019F8c.6772A= (p.Lys2258=)
c.505A= (p.Lys169=)
c.367A= (p.Lys123=)
c.6667A= (p.Lys2223=)
Xg.154860561C>ACA414904453F8c.6771G>T (p.Met2257Ile)
c.504G>T (p.Met168Ile)
c.366G>T (p.Met122Ile)
c.6666G>T (p.Met2222Ile)
Xg.154860561C>GCA414904468F8c.6771G>C (p.Met2257Ile)
c.504G>C (p.Met168Ile)
c.366G>C (p.Met122Ile)
c.6666G>C (p.Met2222Ile)
Xg.154860561C>TCA414904467F8c.6771G>A (p.Met2257Ile)
c.504G>A (p.Met168Ile)
c.366G>A (p.Met122Ile)
c.6666G>A (p.Met2222Ile)
 gnomAD v4
Xg.154860562A>CCA414904469F8c.6770T>G (p.Met2257Arg)
c.503T>G (p.Met168Arg)
c.365T>G (p.Met122Arg)
c.6665T>G (p.Met2222Arg)
Xg.154860562A>GCA414904475F8c.6770T>C (p.Met2257Thr)
c.503T>C (p.Met168Thr)
c.365T>C (p.Met122Thr)
c.6665T>C (p.Met2222Thr)
Xg.154860562A>TCA414904471F8c.6770T>A (p.Met2257Lys)
c.503T>A (p.Met168Lys)
c.365T>A (p.Met122Lys)
c.6665T>A (p.Met2222Lys)
Xg.154860563T>ACA414904482F8c.6769A>T (p.Met2257Leu)
c.502A>T (p.Met168Leu)
c.364A>T (p.Met122Leu)
c.6664A>T (p.Met2222Leu)
Xg.154860563T>CCA343869F8c.6769A>G (p.Met2257Val)
c.502A>G (p.Met168Val)
c.364A>G (p.Met122Val)
c.6664A>G (p.Met2222Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154860563T>GCA414904508F8c.6769A>C (p.Met2257Leu)
c.502A>C (p.Met168Leu)
c.364A>C (p.Met122Leu)
c.6664A>C (p.Met2222Leu)
Xg.154860563T=CA2466815020F8c.6769A= (p.Met2257=)
c.502A= (p.Met168=)
c.364A= (p.Met122=)
c.6664A= (p.Met2222=)
Xg.154860564T>ACA519356257F8c.6768A>T (p.Thr2256=)
c.501A>T (p.Thr167=)
c.363A>T (p.Thr121=)
c.6663A>T (p.Thr2221=)
Xg.154860564T>CCA519356258F8c.6768A>G (p.Thr2256=)
c.501A>G (p.Thr167=)
c.363A>G (p.Thr121=)
c.6663A>G (p.Thr2221=)
Xg.154860564T>GCA519356260F8c.6768A>C (p.Thr2256=)
c.501A>C (p.Thr167=)
c.363A>C (p.Thr121=)
c.6663A>C (p.Thr2221=)
Xg.154860565G>ACA414904527F8c.6767C>T (p.Thr2256Ile)
c.500C>T (p.Thr167Ile)
c.362C>T (p.Thr121Ile)
c.6662C>T (p.Thr2221Ile)
Xg.154860565G>CCA414904534F8c.6767C>G (p.Thr2256Arg)
c.500C>G (p.Thr167Arg)
c.362C>G (p.Thr121Arg)
c.6662C>G (p.Thr2221Arg)
Xg.154860565G>TCA414904536F8c.6767C>A (p.Thr2256Lys)
c.500C>A (p.Thr167Lys)
c.362C>A (p.Thr121Lys)
c.6662C>A (p.Thr2221Lys)
Xg.154860566T>ACA10567757F8c.6766A>T (p.Thr2256Ser)
c.499A>T (p.Thr167Ser)
c.361A>T (p.Thr121Ser)
c.6661A>T (p.Thr2221Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860566T>CCA337325989F8c.6766A>G (p.Thr2256Ala)
c.499A>G (p.Thr167Ala)
c.361A>G (p.Thr121Ala)
c.6661A>G (p.Thr2221Ala)
 dbSNP
Xg.154860566T>GCA414904541F8c.6766A>C (p.Thr2256Pro)
c.499A>C (p.Thr167Pro)
c.361A>C (p.Thr121Pro)
c.6661A>C (p.Thr2221Pro)
Xg.154860566T=CA2466815021F8c.6766A= (p.Thr2256=)
c.499A= (p.Thr167=)
c.361A= (p.Thr121=)
c.6661A= (p.Thr2221=)
Xg.154860567C>ACA414904544F8c.6765G>T (p.Lys2255Asn)
c.498G>T (p.Lys166Asn)
c.360G>T (p.Lys120Asn)
c.6660G>T (p.Lys2220Asn)
Xg.154860567C>GCA414904547F8c.6765G>C (p.Lys2255Asn)
c.498G>C (p.Lys166Asn)
c.360G>C (p.Lys120Asn)
c.6660G>C (p.Lys2220Asn)
Xg.154860567C>TCA519356262F8c.6765G>A (p.Lys2255=)
c.498G>A (p.Lys166=)
c.360G>A (p.Lys120=)
c.6660G>A (p.Lys2220=)
Xg.154860568T>ACA414904564F8c.6764A>T (p.Lys2255Met)
c.497A>T (p.Lys166Met)
c.359A>T (p.Lys120Met)
c.6659A>T (p.Lys2220Met)
Xg.154860568T>CCA414904554F8c.6764A>G (p.Lys2255Arg)
c.497A>G (p.Lys166Arg)
c.359A>G (p.Lys120Arg)
c.6659A>G (p.Lys2220Arg)
Xg.154860568T>GCA414904556F8c.6764A>C (p.Lys2255Thr)
c.497A>C (p.Lys166Thr)
c.359A>C (p.Lys120Thr)
c.6659A>C (p.Lys2220Thr)
Xg.154860569T>ACA414904572F8c.6763A>T (p.Lys2255Ter)
c.496A>T (p.Lys166Ter)
c.358A>T (p.Lys120Ter)
c.6658A>T (p.Lys2220Ter)
Xg.154860569T>CCA414904576F8c.6763A>G (p.Lys2255Glu)
c.496A>G (p.Lys166Glu)
c.358A>G (p.Lys120Glu)
c.6658A>G (p.Lys2220Glu)
Xg.154860569T>GCA414904586F8c.6763A>C (p.Lys2255Gln)
c.496A>C (p.Lys166Gln)
c.358A>C (p.Lys120Gln)
c.6658A>C (p.Lys2220Gln)
Xg.154860570C>ACA414904596F8c.6762G>T (p.Gln2254His)
c.495G>T (p.Gln165His)
c.357G>T (p.Gln119His)
c.6657G>T (p.Gln2219His)
Xg.154860570C>GCA414904600F8c.6762G>C (p.Gln2254His)
c.495G>C (p.Gln165His)
c.357G>C (p.Gln119His)
c.6657G>C (p.Gln2219His)
Xg.154860570C>TCA519356265F8c.6762G>A (p.Gln2254=)
c.495G>A (p.Gln165=)
c.357G>A (p.Gln119=)
c.6657G>A (p.Gln2219=)
 gnomAD v4
Xg.154860571T>ACA414904605F8c.6761A>T (p.Gln2254Leu)
c.494A>T (p.Gln165Leu)
c.356A>T (p.Gln119Leu)
c.6656A>T (p.Gln2219Leu)
Xg.154860571T>CCA414904606F8c.6761A>G (p.Gln2254Arg)
c.494A>G (p.Gln165Arg)
c.356A>G (p.Gln119Arg)
c.6656A>G (p.Gln2219Arg)
Xg.154860571T>GCA414904609F8c.6761A>C (p.Gln2254Pro)
c.494A>C (p.Gln165Pro)
c.356A>C (p.Gln119Pro)
c.6656A>C (p.Gln2219Pro)
Xg.154860572G>ACA414904613F8c.6760C>T (p.Gln2254Ter)
c.493C>T (p.Gln165Ter)
c.355C>T (p.Gln119Ter)
c.6655C>T (p.Gln2219Ter)
Xg.154860572G>CCA414904619F8c.6760C>G (p.Gln2254Glu)
c.493C>G (p.Gln165Glu)
c.355C>G (p.Gln119Glu)
c.6655C>G (p.Gln2219Glu)
Xg.154860572G>TCA414904625F8c.6760C>A (p.Gln2254Lys)
c.493C>A (p.Gln165Lys)
c.355C>A (p.Gln119Lys)
c.6655C>A (p.Gln2219Lys)
Xg.154860573delCA2695237138F8c.6760del (p.Gln2254ArgfsTer4)
c.493del (p.Gln165ArgfsTer4)
c.355del (p.Gln119ArgfsTer4)
c.6655del (p.Gln2219ArgfsTer4)
Xg.154860573G>ACA519356266F8c.6759C>T (p.Phe2253=)
c.492C>T (p.Phe164=)
c.354C>T (p.Phe118=)
c.6654C>T (p.Phe2218=)
 dbSNP
Xg.154860573G>CCA414904628F8c.6759C>G (p.Phe2253Leu)
c.492C>G (p.Phe164Leu)
c.354C>G (p.Phe118Leu)
c.6654C>G (p.Phe2218Leu)
Xg.154860573G=CA2466815022F8c.6759C= (p.Phe2253=)
c.492C= (p.Phe164=)
c.354C= (p.Phe118=)
c.6654C= (p.Phe2218=)
Xg.154860573G>TCA414904630F8c.6759C>A (p.Phe2253Leu)
c.492C>A (p.Phe164Leu)
c.354C>A (p.Phe118Leu)
c.6654C>A (p.Phe2218Leu)
Xg.154860574A>CCA414904636F8c.6758T>G (p.Phe2253Cys)
c.491T>G (p.Phe164Cys)
c.353T>G (p.Phe118Cys)
c.6653T>G (p.Phe2218Cys)
Xg.154860574A>GCA414904642F8c.6758T>C (p.Phe2253Ser)
c.491T>C (p.Phe164Ser)
c.353T>C (p.Phe118Ser)
c.6653T>C (p.Phe2218Ser)
Xg.154860574A>TCA414904646F8c.6758T>A (p.Phe2253Tyr)
c.491T>A (p.Phe164Tyr)
c.353T>A (p.Phe118Tyr)
c.6653T>A (p.Phe2218Tyr)
Xg.154860575A>CCA414904652F8c.6757T>G (p.Phe2253Val)
c.490T>G (p.Phe164Val)
c.352T>G (p.Phe118Val)
c.6652T>G (p.Phe2218Val)
Xg.154860575A>GCA414904654F8c.6757T>C (p.Phe2253Leu)
c.490T>C (p.Phe164Leu)
c.352T>C (p.Phe118Leu)
c.6652T>C (p.Phe2218Leu)
Xg.154860575A>TCA414904658F8c.6757T>A (p.Phe2253Ile)
c.490T>A (p.Phe164Ile)
c.352T>A (p.Phe118Ile)
c.6652T>A (p.Phe2218Ile)
Xg.154860576G>ACA519356267F8c.6756C>T (p.Asp2252=)
c.489C>T (p.Asp163=)
c.351C>T (p.Asp117=)
c.6651C>T (p.Asp2217=)
Xg.154860576G>CCA414904662F8c.6756C>G (p.Asp2252Glu)
c.489C>G (p.Asp163Glu)
c.351C>G (p.Asp117Glu)
c.6651C>G (p.Asp2217Glu)
Xg.154860576G>TCA414904663F8c.6756C>A (p.Asp2252Glu)
c.489C>A (p.Asp163Glu)
c.351C>A (p.Asp117Glu)
c.6651C>A (p.Asp2217Glu)
Xg.154860577T>ACA414904667F8c.6755A>T (p.Asp2252Val)
c.488A>T (p.Asp163Val)
c.350A>T (p.Asp117Val)
c.6650A>T (p.Asp2217Val)
Xg.154860577T>CCA414904670F8c.6755A>G (p.Asp2252Gly)
c.488A>G (p.Asp163Gly)
c.350A>G (p.Asp117Gly)
c.6650A>G (p.Asp2217Gly)
Xg.154860577T>GCA414904672F8c.6755A>C (p.Asp2252Ala)
c.488A>C (p.Asp163Ala)
c.350A>C (p.Asp117Ala)
c.6650A>C (p.Asp2217Ala)
Xg.154860578C>ACA414904680F8c.6754G>T (p.Asp2252Tyr)
c.487G>T (p.Asp163Tyr)
c.349G>T (p.Asp117Tyr)
c.6649G>T (p.Asp2217Tyr)
Xg.154860578C=CA2466815023F8c.6754G= (p.Asp2252=)
c.487G= (p.Asp163=)
c.349G= (p.Asp117=)
c.6649G= (p.Asp2217=)
Xg.154860578C>GCA414904678F8c.6754G>C (p.Asp2252His)
c.487G>C (p.Asp163His)
c.349G>C (p.Asp117His)
c.6649G>C (p.Asp2217His)
 ClinVar dbSNP
Xg.154860578C>TCA414904675F8c.6754G>A (p.Asp2252Asn)
c.487G>A (p.Asp163Asn)
c.349G>A (p.Asp117Asn)
c.6649G>A (p.Asp2217Asn)
Xg.154860579C>ACA519356268F8c.6753G>T (p.Val2251=)
c.486G>T (p.Val162=)
c.348G>T (p.Val116=)
c.6648G>T (p.Val2216=)
Xg.154860579C>GCA519356269F8c.6753G>C (p.Val2251=)
c.486G>C (p.Val162=)
c.348G>C (p.Val116=)
c.6648G>C (p.Val2216=)
Xg.154860579C>TCA519356270F8c.6753G>A (p.Val2251=)
c.486G>A (p.Val162=)
c.348G>A (p.Val116=)
c.6648G>A (p.Val2216=)
Xg.154860580A=CA2466815024F8c.6752T= (p.Val2251=)
c.485T= (p.Val162=)
c.347T= (p.Val116=)
c.6647T= (p.Val2216=)
Xg.154860580A>CCA414904683F8c.6752T>G (p.Val2251Gly)
c.485T>G (p.Val162Gly)
c.347T>G (p.Val116Gly)
c.6647T>G (p.Val2216Gly)
Xg.154860580A>GCA10567758F8c.6752T>C (p.Val2251Ala)
c.485T>C (p.Val162Ala)
c.347T>C (p.Val116Ala)
c.6647T>C (p.Val2216Ala)
 dbSNP ExAC
Xg.154860580A>TCA414904689F8c.6752T>A (p.Val2251Glu)
c.485T>A (p.Val162Glu)
c.347T>A (p.Val116Glu)
c.6647T>A (p.Val2216Glu)
 dbSNP
Xg.154860581C>ACA414904693F8c.6751G>T (p.Val2251Leu)
c.484G>T (p.Val162Leu)
c.346G>T (p.Val116Leu)
c.6646G>T (p.Val2216Leu)
Xg.154860581C=CA2466815025F8c.6751G= (p.Val2251=)
c.484G= (p.Val162=)
c.346G= (p.Val116=)
c.6646G= (p.Val2216=)
Xg.154860581C>GCA414904701F8c.6751G>C (p.Val2251Leu)
c.484G>C (p.Val162Leu)
c.346G>C (p.Val116Leu)
c.6646G>C (p.Val2216Leu)
Xg.154860581C>TCA414904704F8c.6751G>A (p.Val2251Met)
c.484G>A (p.Val162Met)
c.346G>A (p.Val116Met)
c.6646G>A (p.Val2216Met)
 ClinVar dbSNP
Xg.154860582T>ACA414904709F8c.6750A>T (p.Gln2250His)
c.483A>T (p.Gln161His)
c.345A>T (p.Gln115His)
c.6645A>T (p.Gln2215His)
Xg.154860582T>CCA519356271F8c.6750A>G (p.Gln2250=)
c.483A>G (p.Gln161=)
c.345A>G (p.Gln115=)
c.6645A>G (p.Gln2215=)
 gnomAD v4
Xg.154860582T>GCA414904711F8c.6750A>C (p.Gln2250His)
c.483A>C (p.Gln161His)
c.345A>C (p.Gln115His)
c.6645A>C (p.Gln2215His)
Xg.154860583T>ACA414904715F8c.6749A>T (p.Gln2250Leu)
c.482A>T (p.Gln161Leu)
c.344A>T (p.Gln115Leu)
c.6644A>T (p.Gln2215Leu)
Xg.154860583T>CCA414904718F8c.6749A>G (p.Gln2250Arg)
c.482A>G (p.Gln161Arg)
c.344A>G (p.Gln115Arg)
c.6644A>G (p.Gln2215Arg)
Xg.154860583T>GCA414904721F8c.6749A>C (p.Gln2250Pro)
c.482A>C (p.Gln161Pro)
c.344A>C (p.Gln115Pro)
c.6644A>C (p.Gln2215Pro)
Xg.154860584G>ACA414904723F8c.6748C>T (p.Gln2250Ter)
c.481C>T (p.Gln161Ter)
c.343C>T (p.Gln115Ter)
c.6643C>T (p.Gln2215Ter)
Xg.154860584G>CCA10567759F8c.6748C>G (p.Gln2250Glu)
c.481C>G (p.Gln161Glu)
c.343C>G (p.Gln115Glu)
c.6643C>G (p.Gln2215Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860584G=CA2466815026F8c.6748C= (p.Gln2250=)
c.481C= (p.Gln161=)
c.343C= (p.Gln115=)
c.6643C= (p.Gln2215=)
Xg.154860584G>TCA414904726F8c.6748C>A (p.Gln2250Lys)
c.481C>A (p.Gln161Lys)
c.343C>A (p.Gln115Lys)
c.6643C>A (p.Gln2215Lys)
Xg.154860585delCA2739290593F8c.6747del (p.Gln2250LysfsTer8)
c.480del (p.Gln161LysfsTer8)
c.342del (p.Gln115LysfsTer8)
c.6642del (p.Gln2215LysfsTer8)
Xg.154860585C>ACA519356274F8c.6747G>T (p.Leu2249=)
c.480G>T (p.Leu160=)
c.342G>T (p.Leu114=)
c.6642G>T (p.Leu2214=)
Xg.154860585C=CA2466815027F8c.6747G= (p.Leu2249=)
c.480G= (p.Leu160=)
c.342G= (p.Leu114=)
c.6642G= (p.Leu2214=)
Xg.154860585C>GCA519356273F8c.6747G>C (p.Leu2249=)
c.480G>C (p.Leu160=)
c.342G>C (p.Leu114=)
c.6642G>C (p.Leu2214=)
Xg.154860585C>TCA519356272F8c.6747G>A (p.Leu2249=)
c.480G>A (p.Leu160=)
c.342G>A (p.Leu114=)
c.6642G>A (p.Leu2214=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860586A>CCA414904730F8c.6746T>G (p.Leu2249Arg)
c.479T>G (p.Leu160Arg)
c.341T>G (p.Leu114Arg)
c.6641T>G (p.Leu2214Arg)
Xg.154860586A>GCA414904733F8c.6746T>C (p.Leu2249Pro)
c.479T>C (p.Leu160Pro)
c.341T>C (p.Leu114Pro)
c.6641T>C (p.Leu2214Pro)
Xg.154860586A>TCA414904731F8c.6746T>A (p.Leu2249Gln)
c.479T>A (p.Leu160Gln)
c.341T>A (p.Leu114Gln)
c.6641T>A (p.Leu2214Gln)
Xg.154860586dupCA2695237139F8c.6746dup (p.Gln2250AlafsTer?)
c.479dup (p.Gln161AlafsTer?)
c.341dup (p.Gln115AlafsTer?)
c.6641dup (p.Gln2215AlafsTer?)
Xg.154860587G>ACA519356275F8c.6745C>T (p.Leu2249=)
c.478C>T (p.Leu160=)
c.340C>T (p.Leu114=)
c.6640C>T (p.Leu2214=)
Xg.154860587G>CCA414904735F8c.6745C>G (p.Leu2249Val)
c.478C>G (p.Leu160Val)
c.340C>G (p.Leu114Val)
c.6640C>G (p.Leu2214Val)
Xg.154860587G>TCA414904737F8c.6745C>A (p.Leu2249Met)
c.478C>A (p.Leu160Met)
c.340C>A (p.Leu114Met)
c.6640C>A (p.Leu2214Met)
Xg.154860588C>ACA255218F8c.6744G>T (p.Trp2248Cys)
c.477G>T (p.Trp159Cys)
c.339G>T (p.Trp113Cys)
c.6639G>T (p.Trp2213Cys)
 ClinVar dbSNP gnomAD v4
Xg.154860588C=CA2466815028F8c.6744G= (p.Trp2248=)
c.477G= (p.Trp159=)
c.339G= (p.Trp113=)
c.6639G= (p.Trp2213=)
Xg.154860588C>GCA414904744F8c.6744G>C (p.Trp2248Cys)
c.477G>C (p.Trp159Cys)
c.339G>C (p.Trp113Cys)
c.6639G>C (p.Trp2213Cys)
Xg.154860588C>TCA414904746F8c.6744G>A (p.Trp2248Ter)
c.477G>A (p.Trp159Ter)
c.339G>A (p.Trp113Ter)
c.6639G>A (p.Trp2213Ter)
Xg.154860589C>ACA414904747F8c.6743G>T (p.Trp2248Leu)
c.476G>T (p.Trp159Leu)
c.338G>T (p.Trp113Leu)
c.6638G>T (p.Trp2213Leu)
 COSMIC COSMIC
Xg.154860589C=CA2466815029F8c.6743G= (p.Trp2248=)
c.476G= (p.Trp159=)
c.338G= (p.Trp113=)
c.6638G= (p.Trp2213=)
Xg.154860589C>GCA414904748F8c.6743G>C (p.Trp2248Ser)
c.476G>C (p.Trp159Ser)
c.338G>C (p.Trp113Ser)
c.6638G>C (p.Trp2213Ser)
Xg.154860589C>TCA414904750F8c.6743G>A (p.Trp2248Ter)
c.476G>A (p.Trp159Ter)
c.338G>A (p.Trp113Ter)
c.6638G>A (p.Trp2213Ter)
 dbSNP
Xg.154860590A=CA2466815030F8c.6742T= (p.Trp2248=)
c.475T= (p.Trp159=)
c.337T= (p.Trp113=)
c.6637T= (p.Trp2213=)
Xg.154860590A>CCA414904768F8c.6742T>G (p.Trp2248Gly)
c.475T>G (p.Trp159Gly)
c.337T>G (p.Trp113Gly)
c.6637T>G (p.Trp2213Gly)
 ClinVar
Xg.154860590A>GCA414904765F8c.6742T>C (p.Trp2248Arg)
c.475T>C (p.Trp159Arg)
c.337T>C (p.Trp113Arg)
c.6637T>C (p.Trp2213Arg)
Xg.154860590A>TCA414904758F8c.6742T>A (p.Trp2248Arg)
c.475T>A (p.Trp159Arg)
c.337T>A (p.Trp113Arg)
c.6637T>A (p.Trp2213Arg)
 dbSNP
Xg.154860590dupCA873368512F8c.6742dup (p.Trp2248LeufsTer?)
c.475dup (p.Trp159LeufsTer?)
c.337dup (p.Trp113LeufsTer?)
c.6637dup (p.Trp2213LeufsTer?)
 dbSNP
Xg.154860591C>ACA414904771F8c.6741G>T (p.Glu2247Asp)
c.474G>T (p.Glu158Asp)
c.336G>T (p.Glu112Asp)
c.6636G>T (p.Glu2212Asp)
Xg.154860591C=CA2466815031F8c.6741G= (p.Glu2247=)
c.474G= (p.Glu158=)
c.336G= (p.Glu112=)
c.6636G= (p.Glu2212=)
Xg.154860591C>GCA414904774F8c.6741G>C (p.Glu2247Asp)
c.474G>C (p.Glu158Asp)
c.336G>C (p.Glu112Asp)
c.6636G>C (p.Glu2212Asp)
Xg.154860591C>TCA519356276F8c.6741G>A (p.Glu2247=)
c.474G>A (p.Glu158=)
c.336G>A (p.Glu112=)
c.6636G>A (p.Glu2212=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860593_154860594delCA2695237140F8c.6740_6741del (p.Glu2247ValfsTer?)
c.473_474del (p.Glu158ValfsTer?)
c.335_336del (p.Glu112ValfsTer?)
c.6635_6636del (p.Glu2212ValfsTer?)
Xg.154860592T>ACA414904779F8c.6740A>T (p.Glu2247Val)
c.473A>T (p.Glu158Val)
c.335A>T (p.Glu112Val)
c.6635A>T (p.Glu2212Val)
Xg.154860592T>CCA414904781F8c.6740A>G (p.Glu2247Gly)
c.473A>G (p.Glu158Gly)
c.335A>G (p.Glu112Gly)
c.6635A>G (p.Glu2212Gly)
Xg.154860592T>GCA414904783F8c.6740A>C (p.Glu2247Ala)
c.473A>C (p.Glu158Ala)
c.335A>C (p.Glu112Ala)
c.6635A>C (p.Glu2212Ala)
Xg.154860593C>ACA414904791F8c.6739G>T (p.Glu2247Ter)
c.472G>T (p.Glu158Ter)
c.334G>T (p.Glu112Ter)
c.6634G>T (p.Glu2212Ter)
Xg.154860593C>GCA414904793F8c.6739G>C (p.Glu2247Gln)
c.472G>C (p.Glu158Gln)
c.334G>C (p.Glu112Gln)
c.6634G>C (p.Glu2212Gln)
Xg.154860593C>TCA414904796F8c.6739G>A (p.Glu2247Lys)
c.472G>A (p.Glu158Lys)
c.334G>A (p.Glu112Lys)
c.6634G>A (p.Glu2212Lys)
Xg.154860594T>ACA414904800F8c.6738A>T (p.Lys2246Asn)
c.471A>T (p.Lys157Asn)
c.333A>T (p.Lys111Asn)
c.6633A>T (p.Lys2211Asn)
Xg.154860594T>CCA519356277F8c.6738A>G (p.Lys2246=)
c.471A>G (p.Lys157=)
c.333A>G (p.Lys111=)
c.6633A>G (p.Lys2211=)
Xg.154860594T>GCA414904802F8c.6738A>C (p.Lys2246Asn)
c.471A>C (p.Lys157Asn)
c.333A>C (p.Lys111Asn)
c.6633A>C (p.Lys2211Asn)
Xg.154860597delCA2695237141F8c.6738del (p.Glu2247SerfsTer11)
c.471del (p.Glu158SerfsTer11)
c.333del (p.Glu112SerfsTer11)
c.6633del (p.Glu2212SerfsTer11)
Xg.154860596_154860597delCA2695237142F8c.6737_6738del (p.Lys2246ArgfsTer?)
c.470_471del (p.Lys157ArgfsTer?)
c.332_333del (p.Lys111ArgfsTer?)
c.6632_6633del (p.Lys2211ArgfsTer?)
Xg.154860595T>ACA414904813F8c.6737A>T (p.Lys2246Ile)
c.470A>T (p.Lys157Ile)
c.332A>T (p.Lys111Ile)
c.6632A>T (p.Lys2211Ile)
Xg.154860595T>CCA414904815F8c.6737A>G (p.Lys2246Arg)
c.470A>G (p.Lys157Arg)
c.332A>G (p.Lys111Arg)
c.6632A>G (p.Lys2211Arg)
Xg.154860595T>GCA414904806F8c.6737A>C (p.Lys2246Thr)
c.470A>C (p.Lys157Thr)
c.332A>C (p.Lys111Thr)
c.6632A>C (p.Lys2211Thr)
Xg.154860596T>ACA414904819F8c.6736A>T (p.Lys2246Ter)
c.469A>T (p.Lys157Ter)
c.331A>T (p.Lys111Ter)
c.6631A>T (p.Lys2211Ter)
 dbSNP
Xg.154860596T>CCA414904820F8c.6736A>G (p.Lys2246Glu)
c.469A>G (p.Lys157Glu)
c.331A>G (p.Lys111Glu)
c.6631A>G (p.Lys2211Glu)
Xg.154860596T>GCA414904822F8c.6736A>C (p.Lys2246Gln)
c.469A>C (p.Lys157Gln)
c.331A>C (p.Lys111Gln)
c.6631A>C (p.Lys2211Gln)
Xg.154860596T=CA2466815032F8c.6736A= (p.Lys2246=)
c.469A= (p.Lys157=)
c.331A= (p.Lys111=)
c.6631A= (p.Lys2211=)
Xg.154860597T>ACA519356278F8c.6735A>T (p.Pro2245=)
c.468A>T (p.Pro156=)
c.330A>T (p.Pro110=)
c.6630A>T (p.Pro2210=)
Xg.154860597T>CCA519356279F8c.6735A>G (p.Pro2245=)
c.468A>G (p.Pro156=)
c.330A>G (p.Pro110=)
c.6630A>G (p.Pro2210=)
Xg.154860597T>GCA519356280F8c.6735A>C (p.Pro2245=)
c.468A>C (p.Pro156=)
c.330A>C (p.Pro110=)
c.6630A>C (p.Pro2210=)
Xg.154860598G>ACA414904826F8c.6734C>T (p.Pro2245Leu)
c.467C>T (p.Pro156Leu)
c.329C>T (p.Pro110Leu)
c.6629C>T (p.Pro2210Leu)
Xg.154860598G>CCA414904829F8c.6734C>G (p.Pro2245Arg)
c.467C>G (p.Pro156Arg)
c.329C>G (p.Pro110Arg)
c.6629C>G (p.Pro2210Arg)
Xg.154860598G>TCA414904832F8c.6734C>A (p.Pro2245Gln)
c.467C>A (p.Pro156Gln)
c.329C>A (p.Pro110Gln)
c.6629C>A (p.Pro2210Gln)
Xg.154860599G>ACA414904834F8c.6733C>T (p.Pro2245Ser)
c.466C>T (p.Pro156Ser)
c.328C>T (p.Pro110Ser)
c.6628C>T (p.Pro2210Ser)
Xg.154860599G>CCA414904837F8c.6733C>G (p.Pro2245Ala)
c.466C>G (p.Pro156Ala)
c.328C>G (p.Pro110Ala)
c.6628C>G (p.Pro2210Ala)
Xg.154860599G>TCA414904840F8c.6733C>A (p.Pro2245Thr)
c.466C>A (p.Pro156Thr)
c.328C>A (p.Pro110Thr)
c.6628C>A (p.Pro2210Thr)
Xg.154860600A>CCA414904844F8c.6732T>G (p.Asn2244Lys)
c.465T>G (p.Asn155Lys)
c.327T>G (p.Asn109Lys)
c.6627T>G (p.Asn2209Lys)
Xg.154860600A>GCA519356281F8c.6732T>C (p.Asn2244=)
c.465T>C (p.Asn155=)
c.327T>C (p.Asn109=)
c.6627T>C (p.Asn2209=)
Xg.154860600A>TCA414904846F8c.6732T>A (p.Asn2244Lys)
c.465T>A (p.Asn155Lys)
c.327T>A (p.Asn109Lys)
c.6627T>A (p.Asn2209Lys)
Xg.154860601T>ACA414904854F8c.6731A>T (p.Asn2244Ile)
c.464A>T (p.Asn155Ile)
c.326A>T (p.Asn109Ile)
c.6626A>T (p.Asn2209Ile)
Xg.154860601T>CCA414904848F8c.6731A>G (p.Asn2244Ser)
c.464A>G (p.Asn155Ser)
c.326A>G (p.Asn109Ser)
c.6626A>G (p.Asn2209Ser)
Xg.154860601T>GCA414904851F8c.6731A>C (p.Asn2244Thr)
c.464A>C (p.Asn155Thr)
c.326A>C (p.Asn109Thr)
c.6626A>C (p.Asn2209Thr)
Xg.154860602T>ACA414904859F8c.6730A>T (p.Asn2244Tyr)
c.463A>T (p.Asn155Tyr)
c.325A>T (p.Asn109Tyr)
c.6625A>T (p.Asn2209Tyr)
Xg.154860602T>CCA414904862F8c.6730A>G (p.Asn2244Asp)
c.463A>G (p.Asn155Asp)
c.325A>G (p.Asn109Asp)
c.6625A>G (p.Asn2209Asp)
Xg.154860602T>GCA414904865F8c.6730A>C (p.Asn2244His)
c.463A>C (p.Asn155His)
c.325A>C (p.Asn109His)
c.6625A>C (p.Asn2209His)
Xg.154860603A>CCA414904868F8c.6729T>G (p.Asn2243Lys)
c.462T>G (p.Asn154Lys)
c.324T>G (p.Asn108Lys)
c.6624T>G (p.Asn2208Lys)
Xg.154860603A>GCA519356282F8c.6729T>C (p.Asn2243=)
c.462T>C (p.Asn154=)
c.324T>C (p.Asn108=)
c.6624T>C (p.Asn2208=)
Xg.154860603A>TCA414904871F8c.6729T>A (p.Asn2243Lys)
c.462T>A (p.Asn154Lys)
c.324T>A (p.Asn108Lys)
c.6624T>A (p.Asn2208Lys)
Xg.154860604T>ACA414904877F8c.6728A>T (p.Asn2243Ile)
c.461A>T (p.Asn154Ile)
c.323A>T (p.Asn108Ile)
c.6623A>T (p.Asn2208Ile)
Xg.154860604T>CCA337326045F8c.6728A>G (p.Asn2243Ser)
c.461A>G (p.Asn154Ser)
c.323A>G (p.Asn108Ser)
c.6623A>G (p.Asn2208Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860604T>GCA414904879F8c.6728A>C (p.Asn2243Thr)
c.461A>C (p.Asn154Thr)
c.323A>C (p.Asn108Thr)
c.6623A>C (p.Asn2208Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860604T=CA2466815033F8c.6728A= (p.Asn2243=)
c.461A= (p.Asn154=)
c.323A= (p.Asn108=)
c.6623A= (p.Asn2208=)
Xg.154860605T>ACA414904882F8c.6727A>T (p.Asn2243Tyr)
c.460A>T (p.Asn154Tyr)
c.322A>T (p.Asn108Tyr)
c.6622A>T (p.Asn2208Tyr)
Xg.154860605T>CCA414904884F8c.6727A>G (p.Asn2243Asp)
c.460A>G (p.Asn154Asp)
c.322A>G (p.Asn108Asp)
c.6622A>G (p.Asn2208Asp)
Xg.154860605T>GCA414904886F8c.6727A>C (p.Asn2243His)
c.460A>C (p.Asn154His)
c.322A>C (p.Asn108His)
c.6622A>C (p.Asn2208His)
Xg.154860606C>ACA519356283F8c.6726G>T (p.Val2242=)
c.459G>T (p.Val153=)
c.321G>T (p.Val107=)
c.6621G>T (p.Val2207=)
 COSMIC COSMIC
Xg.154860606C=CA2466815034F8c.6726G= (p.Val2242=)
c.459G= (p.Val153=)
c.321G= (p.Val107=)
c.6621G= (p.Val2207=)
Xg.154860606C>GCA519356284F8c.6726G>C (p.Val2242=)
c.459G>C (p.Val153=)
c.321G>C (p.Val107=)
c.6621G>C (p.Val2207=)
Xg.154860606C>TCA10567760F8c.6726G>A (p.Val2242=)
c.459G>A (p.Val153=)
c.321G>A (p.Val107=)
c.6621G>A (p.Val2207=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860607A>CCA414904895F8c.6725T>G (p.Val2242Gly)
c.458T>G (p.Val153Gly)
c.320T>G (p.Val107Gly)
c.6620T>G (p.Val2207Gly)
Xg.154860607A>GCA414904897F8c.6725T>C (p.Val2242Ala)
c.458T>C (p.Val153Ala)
c.320T>C (p.Val107Ala)
c.6620T>C (p.Val2207Ala)
Xg.154860607A>TCA414904891F8c.6725T>A (p.Val2242Glu)
c.458T>A (p.Val153Glu)
c.320T>A (p.Val107Glu)
c.6620T>A (p.Val2207Glu)
Xg.154860608C>ACA414904907F8c.6724G>T (p.Val2242Leu)
c.457G>T (p.Val153Leu)
c.319G>T (p.Val107Leu)
c.6619G>T (p.Val2207Leu)
Xg.154860608C=CA2466815035F8c.6724G= (p.Val2242=)
c.457G= (p.Val153=)
c.319G= (p.Val107=)
c.6619G= (p.Val2207=)
Xg.154860608C>GCA414904906F8c.6724G>C (p.Val2242Leu)
c.457G>C (p.Val153Leu)
c.319G>C (p.Val107Leu)
c.6619G>C (p.Val2207Leu)
Xg.154860608C>TCA10567761F8c.6724G>A (p.Val2242Met)
c.457G>A (p.Val153Met)
c.319G>A (p.Val107Met)
c.6619G>A (p.Val2207Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860609C>ACA414904910F8c.6724-1G>T (n.6724-1G>T)
c.457-1G>T (n.457-1G>T)
c.319-1G>T (n.319-1G>T)
c.6619-1G>T (n.6619-1G>T)
Xg.154860609C>GCA414904912F8c.6724-1G>C (n.6724-1G>C)
c.457-1G>C (n.457-1G>C)
c.319-1G>C (n.319-1G>C)
c.6619-1G>C (n.6619-1G>C)
Xg.154860609C>TCA414904915F8c.6724-1G>A (n.6724-1G>A)
c.457-1G>A (n.457-1G>A)
c.319-1G>A (n.319-1G>A)
c.6619-1G>A (n.6619-1G>A)
Xg.154860610T>ACA414904918F8c.6724-2A>T (n.6724-2A>T)
c.457-2A>T (n.457-2A>T)
c.319-2A>T (n.319-2A>T)
c.6619-2A>T (n.6619-2A>T)
Xg.154860610T>CCA414904920F8c.6724-2A>G (n.6724-2A>G)
c.457-2A>G (n.457-2A>G)
c.319-2A>G (n.319-2A>G)
c.6619-2A>G (n.6619-2A>G)
 dbSNP
Xg.154860610T>GCA414904924F8c.6724-2A>C (n.6724-2A>C)
c.457-2A>C (n.457-2A>C)
c.319-2A>C (n.319-2A>C)
c.6619-2A>C (n.6619-2A>C)
Xg.154860610T=CA2466815036F8c.6724-2A= (n.6724-2A=)
c.457-2A= (n.457-2A=)
c.319-2A= (n.319-2A=)
c.6619-2A= (n.6619-2A=)
Xg.154860611G>ACA2466815038F8c.6724-3C>T (n.6724-3C>T)
c.457-3C>T (n.457-3C>T)
c.319-3C>T (n.319-3C>T)
c.6619-3C>T (n.6619-3C>T)
 dbSNP
Xg.154860611G=CA2466815037F8c.6724-3C= (n.6724-3C=)
c.457-3C= (n.457-3C=)
c.319-3C= (n.319-3C=)
c.6619-3C= (n.6619-3C=)
Xg.154860614G>ACA2579752220F8c.6724-6C>T (n.6724-6C>T)
c.457-6C>T (n.457-6C>T)
c.319-6C>T (n.319-6C>T)
c.6619-6C>T (n.6619-6C>T)
Xg.154860616C>ACA10567762F8c.6724-8G>T (n.6724-8G>T)
c.457-8G>T (n.457-8G>T)
c.319-8G>T (n.319-8G>T)
c.6619-8G>T (n.6619-8G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860616C=CA2466815039F8c.6724-8G= (n.6724-8G=)
c.457-8G= (n.457-8G=)
c.319-8G= (n.319-8G=)
c.6619-8G= (n.6619-8G=)
Xg.154860618A>GCA2695167720F8c.6724-10T>C (n.6724-10T>C)
c.457-10T>C (n.457-10T>C)
c.319-10T>C (n.319-10T>C)
c.6619-10T>C (n.6619-10T>C)
 gnomAD v4
Xg.154860619T>ACA645238470F8c.6724-11A>T (n.6724-11A>T)
c.457-11A>T (n.457-11A>T)
c.319-11A>T (n.319-11A>T)
c.6619-11A>T (n.6619-11A>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860619T>CCA2695167721F8c.6724-11A>G (n.6724-11A>G)
c.457-11A>G (n.457-11A>G)
c.319-11A>G (n.319-11A>G)
c.6619-11A>G (n.6619-11A>G)
 gnomAD v4
Xg.154860619T=CA2466815040F8c.6724-11A= (n.6724-11A=)
c.457-11A= (n.457-11A=)
c.319-11A= (n.319-11A=)
c.6619-11A= (n.6619-11A=)
Xg.154860620A>CCA2579752221F8c.6724-12T>G (n.6724-12T>G)
c.457-12T>G (n.457-12T>G)
c.319-12T>G (n.319-12T>G)
c.6619-12T>G (n.6619-12T>G)
 gnomAD v4
Xg.154860621G>CCA1138598231F8c.6724-13C>G (n.6724-13C>G)
c.457-13C>G (n.457-13C>G)
c.319-13C>G (n.319-13C>G)
c.6619-13C>G (n.6619-13C>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860621G=CA2466815041F8c.6724-13C= (n.6724-13C=)
c.457-13C= (n.457-13C=)
c.319-13C= (n.319-13C=)
c.6619-13C= (n.6619-13C=)
Xg.154860622A=CA2466815042F8c.6724-14T= (n.6724-14T=)
c.457-14T= (n.457-14T=)
c.319-14T= (n.319-14T=)
c.6619-14T= (n.6619-14T=)
Xg.154860622A>CCA645238472F8c.6724-14T>G (n.6724-14T>G)
c.457-14T>G (n.457-14T>G)
c.319-14T>G (n.319-14T>G)
c.6619-14T>G (n.6619-14T>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860623G>ACA2466815044F8c.6724-15C>T (n.6724-15C>T)
c.457-15C>T (n.457-15C>T)
c.319-15C>T (n.319-15C>T)
c.6619-15C>T (n.6619-15C>T)
 dbSNP gnomAD v4
Xg.154860623G=CA2466815043F8c.6724-15C= (n.6724-15C=)
c.457-15C= (n.457-15C=)
c.319-15C= (n.319-15C=)
c.6619-15C= (n.6619-15C=)
Xg.154860624T>GCA2824313403F8c.6724-16A>C (n.6724-16A>C)
c.457-16A>C (n.457-16A>C)
c.319-16A>C (n.319-16A>C)
c.6619-16A>C (n.6619-16A>C)
Xg.154860627G>TCA2695167722F8c.6724-19C>A (n.6724-19C>A)
c.457-19C>A (n.457-19C>A)
c.319-19C>A (n.319-19C>A)
c.6619-19C>A (n.6619-19C>A)
 gnomAD v4
Xg.154860628A=CA2466815045F8c.6724-20T= (n.6724-20T=)
c.457-20T= (n.457-20T=)
c.319-20T= (n.319-20T=)
c.6619-20T= (n.6619-20T=)
Xg.154860628A>CCA10567764F8c.6724-20T>G (n.6724-20T>G)
c.457-20T>G (n.457-20T>G)
c.319-20T>G (n.319-20T>G)
c.6619-20T>G (n.6619-20T>G)
 dbSNP ExAC gnomAD v2
Xg.154860628A>GCA10567763F8c.6724-20T>C (n.6724-20T>C)
c.457-20T>C (n.457-20T>C)
c.319-20T>C (n.319-20T>C)
c.6619-20T>C (n.6619-20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860630T>CCA2579752222F8c.6724-22A>G (n.6724-22A>G)
c.457-22A>G (n.457-22A>G)
c.319-22A>G (n.319-22A>G)
c.6619-22A>G (n.6619-22A>G)
Xg.154860632G>ACA2695167723F8c.6724-24C>T (n.6724-24C>T)
c.457-24C>T (n.457-24C>T)
c.319-24C>T (n.319-24C>T)
c.6619-24C>T (n.6619-24C>T)
 gnomAD v4
Xg.154860632G=CA2466815046F8c.6724-24C= (n.6724-24C=)
c.457-24C= (n.457-24C=)
c.319-24C= (n.319-24C=)
c.6619-24C= (n.6619-24C=)
Xg.154860632G>TCA645238476F8c.6724-24C>A (n.6724-24C>A)
c.457-24C>A (n.457-24C>A)
c.319-24C>A (n.319-24C>A)
c.6619-24C>A (n.6619-24C>A)
 dbSNP gnomAD v2
Xg.154860635G>CCA2466815048F8c.6724-27C>G (n.6724-27C>G)
c.457-27C>G (n.457-27C>G)
c.319-27C>G (n.319-27C>G)
c.6619-27C>G (n.6619-27C>G)
 dbSNP
Xg.154860635G=CA2466815047F8c.6724-27C= (n.6724-27C=)
c.457-27C= (n.457-27C=)
c.319-27C= (n.319-27C=)
c.6619-27C= (n.6619-27C=)
Xg.154860635G>TCA2695167724F8c.6724-27C>A (n.6724-27C>A)
c.457-27C>A (n.457-27C>A)
c.319-27C>A (n.319-27C>A)
c.6619-27C>A (n.6619-27C>A)
 gnomAD v4
Xg.154860638T>CCA2466815050F8c.6724-30A>G (n.6724-30A>G)
c.457-30A>G (n.457-30A>G)
c.319-30A>G (n.319-30A>G)
c.6619-30A>G (n.6619-30A>G)
 dbSNP gnomAD v4
Xg.154860638T=CA2466815049F8c.6724-30A= (n.6724-30A=)
c.457-30A= (n.457-30A=)
c.319-30A= (n.319-30A=)
c.6619-30A= (n.6619-30A=)

Number of alleles fetched