Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.93218522C=CA2155441008UBR7c.602-5C= (n.602-5C=)
c.374-5C= (n.374-5C=)
c.*303-5C= (n.*303-5C=)
c.378+3241C=
c.506-5C= (n.506-5C=)
c.311-5C= (n.311-5C=)
n.511-5C=
n.704-5C=
n.504-5C=
14g.93218522C>GCA710048237UBR7c.602-5C>G (n.602-5C>G)
c.374-5C>G (n.374-5C>G)
c.*303-5C>G (n.*303-5C>G)
c.378+3241C>G
c.506-5C>G (n.506-5C>G)
c.311-5C>G (n.311-5C>G)
n.511-5C>G
n.704-5C>G
n.504-5C>G
 dbSNP
14g.93218522C>TCA2155441009UBR7c.602-5C>T (n.602-5C>T)
c.374-5C>T (n.374-5C>T)
c.*303-5C>T (n.*303-5C>T)
c.378+3241C>T
c.506-5C>T (n.506-5C>T)
c.311-5C>T (n.311-5C>T)
n.511-5C>T
n.704-5C>T
n.504-5C>T
 dbSNP gnomAD v4
14g.93218524C>TCA2626239254UBR7c.602-3C>T (n.602-3C>T)
c.374-3C>T (n.374-3C>T)
c.*303-3C>T (n.*303-3C>T)
c.378+3243C>T
c.506-3C>T (n.506-3C>T)
c.311-3C>T (n.311-3C>T)
n.511-3C>T
n.704-3C>T
n.504-3C>T
 gnomAD v4
14g.93218525A=CA2155441010UBR7c.602-2A= (n.602-2A=)
c.374-2A= (n.374-2A=)
c.*303-2A= (n.*303-2A=)
c.378+3244A=
c.506-2A= (n.506-2A=)
c.311-2A= (n.311-2A=)
n.511-2A=
n.704-2A=
n.504-2A=
14g.93218525A>CCA390810647UBR7c.602-2A>C (n.602-2A>C)
c.374-2A>C (n.374-2A>C)
c.*303-2A>C (n.*303-2A>C)
c.378+3244A>C
c.506-2A>C (n.506-2A>C)
c.311-2A>C (n.311-2A>C)
n.511-2A>C
n.704-2A>C
n.504-2A>C
14g.93218525A>GCA7319893UBR7c.602-2A>G (n.602-2A>G)
c.374-2A>G (n.374-2A>G)
c.*303-2A>G (n.*303-2A>G)
c.378+3244A>G
c.506-2A>G (n.506-2A>G)
c.311-2A>G (n.311-2A>G)
n.511-2A>G
n.704-2A>G
n.504-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218525A>TCA390810648UBR7c.602-2A>T (n.602-2A>T)
c.374-2A>T (n.374-2A>T)
c.*303-2A>T (n.*303-2A>T)
c.378+3244A>T
c.506-2A>T (n.506-2A>T)
c.311-2A>T (n.311-2A>T)
n.511-2A>T
n.704-2A>T
n.504-2A>T
14g.93218526G>ACA390810649UBR7c.602-1G>A (n.602-1G>A)
c.374-1G>A (n.374-1G>A)
c.*303-1G>A (n.*303-1G>A)
c.378+3245G>A
c.506-1G>A (n.506-1G>A)
c.311-1G>A (n.311-1G>A)
n.511-1G>A
n.704-1G>A
n.504-1G>A
 COSMIC
14g.93218526G>CCA390810650UBR7c.602-1G>C (n.602-1G>C)
c.374-1G>C (n.374-1G>C)
c.*303-1G>C (n.*303-1G>C)
c.378+3245G>C
c.506-1G>C (n.506-1G>C)
c.311-1G>C (n.311-1G>C)
n.511-1G>C
n.704-1G>C
n.504-1G>C
14g.93218526G>TCA390810651UBR7c.602-1G>T (n.602-1G>T)
c.374-1G>T (n.374-1G>T)
c.*303-1G>T (n.*303-1G>T)
c.378+3245G>T
c.506-1G>T (n.506-1G>T)
c.311-1G>T (n.311-1G>T)
n.511-1G>T
n.704-1G>T
n.504-1G>T
14g.93218527T>ACA390810654UBR7c.602T>A (p.Val201Glu)
c.374T>A (p.Val125Glu)
c.*303T>A (n.*303T>A)
c.378+3246T>A
c.506T>A (p.Val169Glu)
c.311T>A (p.Val104Glu)
n.511T>A
n.704T>A
n.504T>A
14g.93218527T>CCA390810652UBR7c.602T>C (p.Val201Ala)
c.374T>C (p.Val125Ala)
c.*303T>C (n.*303T>C)
c.378+3246T>C
c.506T>C (p.Val169Ala)
c.311T>C (p.Val104Ala)
n.511T>C
n.704T>C
n.504T>C
14g.93218527T>GCA390810653UBR7c.602T>G (p.Val201Gly)
c.374T>G (p.Val125Gly)
c.*303T>G (n.*303T>G)
c.378+3246T>G
c.506T>G (p.Val169Gly)
c.311T>G (p.Val104Gly)
n.511T>G
n.704T>G
n.504T>G
14g.93218528A>CCA487594034UBR7c.603A>C (p.Val201=)
c.375A>C (p.Val125=)
c.*304A>C (n.*304A>C)
c.378+3247A>C
c.507A>C (p.Val169=)
c.312A>C (p.Val104=)
n.512A>C
n.705A>C
n.505A>C
14g.93218528A>GCA487594035UBR7c.603A>G (p.Val201=)
c.375A>G (p.Val125=)
c.*304A>G (n.*304A>G)
c.378+3247A>G
c.507A>G (p.Val169=)
c.312A>G (p.Val104=)
n.512A>G
n.705A>G
n.505A>G
14g.93218528A>TCA487594036UBR7c.603A>T (p.Val201=)
c.375A>T (p.Val125=)
c.*304A>T (n.*304A>T)
c.378+3247A>T
c.507A>T (p.Val169=)
c.312A>T (p.Val104=)
n.512A>T
n.705A>T
n.505A>T
14g.93218529A>CCA390810655UBR7c.604A>C (p.Thr202Pro)
c.376A>C (p.Thr126Pro)
c.*305A>C (n.*305A>C)
c.378+3248A>C
c.508A>C (p.Thr170Pro)
c.313A>C (p.Thr105Pro)
n.513A>C
n.706A>C
n.506A>C
14g.93218529A>GCA390810656UBR7c.604A>G (p.Thr202Ala)
c.376A>G (p.Thr126Ala)
c.*305A>G (n.*305A>G)
c.378+3248A>G
c.508A>G (p.Thr170Ala)
c.313A>G (p.Thr105Ala)
n.513A>G
n.706A>G
n.506A>G
14g.93218529A>TCA390810657UBR7c.604A>T (p.Thr202Ser)
c.376A>T (p.Thr126Ser)
c.*305A>T (n.*305A>T)
c.378+3248A>T
c.508A>T (p.Thr170Ser)
c.313A>T (p.Thr105Ser)
n.513A>T
n.706A>T
n.506A>T
14g.93218530C>ACA390810658UBR7c.605C>A (p.Thr202Asn)
c.377C>A (p.Thr126Asn)
c.*306C>A (n.*306C>A)
c.378+3249C>A
c.509C>A (p.Thr170Asn)
c.314C>A (p.Thr105Asn)
n.514C>A
n.707C>A
n.507C>A
14g.93218530C=CA2155441011UBR7c.605C= (p.Thr202=)
c.377C= (p.Thr126=)
c.*306C= (n.*306C=)
c.378+3249C=
c.509C= (p.Thr170=)
c.314C= (p.Thr105=)
n.514C=
n.707C=
n.507C=
14g.93218530C>GCA390810659UBR7c.605C>G (p.Thr202Ser)
c.377C>G (p.Thr126Ser)
c.*306C>G (n.*306C>G)
c.378+3249C>G
c.509C>G (p.Thr170Ser)
c.314C>G (p.Thr105Ser)
n.514C>G
n.707C>G
n.507C>G
 dbSNP gnomAD v2
14g.93218530C>TCA390810660UBR7c.605C>T (p.Thr202Ile)
c.377C>T (p.Thr126Ile)
c.*306C>T (n.*306C>T)
c.378+3249C>T
c.509C>T (p.Thr170Ile)
c.314C>T (p.Thr105Ile)
n.514C>T
n.707C>T
n.507C>T
 dbSNP gnomAD v3 gnomAD v4
14g.93218531C>ACA487594037UBR7c.606C>A (p.Thr202=)
c.378C>A (p.Thr126=)
c.*307C>A (n.*307C>A)
c.378+3250C>A
c.510C>A (p.Thr170=)
c.315C>A (p.Thr105=)
n.515C>A
n.708C>A
n.508C>A
14g.93218531C=CA2155441012UBR7c.606C= (p.Thr202=)
c.378C= (p.Thr126=)
c.*307C= (n.*307C=)
c.378+3250C=
c.510C= (p.Thr170=)
c.315C= (p.Thr105=)
n.515C=
n.708C=
n.508C=
14g.93218531C>GCA487594039UBR7c.606C>G (p.Thr202=)
c.378C>G (p.Thr126=)
c.*307C>G (n.*307C>G)
c.378+3250C>G
c.510C>G (p.Thr170=)
c.315C>G (p.Thr105=)
n.515C>G
n.708C>G
n.508C>G
14g.93218531C>TCA487594038UBR7c.606C>T (p.Thr202=)
c.378C>T (p.Thr126=)
c.*307C>T (n.*307C>T)
c.378+3250C>T
c.510C>T (p.Thr170=)
c.315C>T (p.Thr105=)
n.515C>T
n.708C>T
n.508C>T
 dbSNP gnomAD v4
14g.93218532A>CCA390810661UBR7c.607A>C (p.Lys203Gln)
c.379A>C (p.Lys127Gln)
c.*308A>C (n.*308A>C)
c.378+3251A>C
c.511A>C (p.Lys171Gln)
c.316A>C (p.Lys106Gln)
n.516A>C
n.709A>C
n.509A>C
14g.93218532A>GCA390810662UBR7c.607A>G (p.Lys203Glu)
c.379A>G (p.Lys127Glu)
c.*308A>G (n.*308A>G)
c.378+3251A>G
c.511A>G (p.Lys171Glu)
c.316A>G (p.Lys106Glu)
n.516A>G
n.709A>G
n.509A>G
14g.93218532A>TCA390810663UBR7c.607A>T (p.Lys203Ter)
c.379A>T (p.Lys127Ter)
c.*308A>T (n.*308A>T)
c.378+3251A>T
c.511A>T (p.Lys171Ter)
c.316A>T (p.Lys106Ter)
n.516A>T
n.709A>T
n.509A>T
14g.93218533A>CCA390810664UBR7c.608A>C (p.Lys203Thr)
c.380A>C (p.Lys127Thr)
c.*309A>C (n.*309A>C)
c.378+3252A>C
c.512A>C (p.Lys171Thr)
c.317A>C (p.Lys106Thr)
n.517A>C
n.710A>C
n.510A>C
14g.93218533A>GCA390810665UBR7c.608A>G (p.Lys203Arg)
c.380A>G (p.Lys127Arg)
c.*309A>G (n.*309A>G)
c.378+3252A>G
c.512A>G (p.Lys171Arg)
c.317A>G (p.Lys106Arg)
n.517A>G
n.710A>G
n.510A>G
 COSMIC
14g.93218533A>TCA390810666UBR7c.608A>T (p.Lys203Ile)
c.380A>T (p.Lys127Ile)
c.*309A>T (n.*309A>T)
c.378+3252A>T
c.512A>T (p.Lys171Ile)
c.317A>T (p.Lys106Ile)
n.517A>T
n.710A>T
n.510A>T
14g.93218534A>CCA390810667UBR7c.609A>C (p.Lys203Asn)
c.381A>C (p.Lys127Asn)
c.*310A>C (n.*310A>C)
c.378+3253A>C
c.513A>C (p.Lys171Asn)
c.318A>C (p.Lys106Asn)
n.518A>C
n.711A>C
n.511A>C
14g.93218534A>GCA487594040UBR7c.609A>G (p.Lys203=)
c.381A>G (p.Lys127=)
c.*310A>G (n.*310A>G)
c.378+3253A>G
c.513A>G (p.Lys171=)
c.318A>G (p.Lys106=)
n.518A>G
n.711A>G
n.511A>G
14g.93218534A>TCA390810668UBR7c.609A>T (p.Lys203Asn)
c.381A>T (p.Lys127Asn)
c.*310A>T (n.*310A>T)
c.378+3253A>T
c.513A>T (p.Lys171Asn)
c.318A>T (p.Lys106Asn)
n.518A>T
n.711A>T
n.511A>T
14g.93218535A>CCA390810669UBR7c.610A>C (p.Ile204Leu)
c.382A>C (p.Ile128Leu)
c.*311A>C (n.*311A>C)
c.378+3254A>C
c.514A>C (p.Ile172Leu)
c.319A>C (p.Ile107Leu)
n.519A>C
n.712A>C
n.512A>C
14g.93218535A>GCA390810670UBR7c.610A>G (p.Ile204Val)
c.382A>G (p.Ile128Val)
c.*311A>G (n.*311A>G)
c.378+3254A>G
c.514A>G (p.Ile172Val)
c.319A>G (p.Ile107Val)
n.519A>G
n.712A>G
n.512A>G
 gnomAD v4
14g.93218535A>TCA390810671UBR7c.610A>T (p.Ile204Leu)
c.382A>T (p.Ile128Leu)
c.*311A>T (n.*311A>T)
c.378+3254A>T
c.514A>T (p.Ile172Leu)
c.319A>T (p.Ile107Leu)
n.519A>T
n.712A>T
n.512A>T
14g.93218536T>ACA390810672UBR7c.611T>A (p.Ile204Lys)
c.383T>A (p.Ile128Lys)
c.*312T>A (n.*312T>A)
c.378+3255T>A
c.515T>A (p.Ile172Lys)
c.320T>A (p.Ile107Lys)
n.520T>A
n.713T>A
n.513T>A
14g.93218536T>CCA390810673UBR7c.611T>C (p.Ile204Thr)
c.383T>C (p.Ile128Thr)
c.*312T>C (n.*312T>C)
c.378+3255T>C
c.515T>C (p.Ile172Thr)
c.320T>C (p.Ile107Thr)
n.520T>C
n.713T>C
n.513T>C
14g.93218536T>GCA390810674UBR7c.611T>G (p.Ile204Arg)
c.383T>G (p.Ile128Arg)
c.*312T>G (n.*312T>G)
c.378+3255T>G
c.515T>G (p.Ile172Arg)
c.320T>G (p.Ile107Arg)
n.520T>G
n.713T>G
n.513T>G
14g.93218537A>CCA487594041UBR7c.612A>C (p.Ile204=)
c.384A>C (p.Ile128=)
c.*313A>C (n.*313A>C)
c.378+3256A>C
c.516A>C (p.Ile172=)
c.321A>C (p.Ile107=)
n.521A>C
n.714A>C
n.514A>C
14g.93218537A>GCA390810675UBR7c.612A>G (p.Ile204Met)
c.384A>G (p.Ile128Met)
c.*313A>G (n.*313A>G)
c.378+3256A>G
c.516A>G (p.Ile172Met)
c.321A>G (p.Ile107Met)
n.521A>G
n.714A>G
n.514A>G
14g.93218537A>TCA487594042UBR7c.612A>T (p.Ile204=)
c.384A>T (p.Ile128=)
c.*313A>T (n.*313A>T)
c.378+3256A>T
c.516A>T (p.Ile172=)
c.321A>T (p.Ile107=)
n.521A>T
n.714A>T
n.514A>T
14g.93218538T>ACA390810676UBR7c.613T>A (p.Ser205Thr)
c.385T>A (p.Ser129Thr)
c.*314T>A (n.*314T>A)
c.378+3257T>A
c.517T>A (p.Ser173Thr)
c.322T>A (p.Ser108Thr)
n.522T>A
n.715T>A
n.515T>A
14g.93218538T>CCA265761393UBR7c.613T>C (p.Ser205Pro)
c.385T>C (p.Ser129Pro)
c.*314T>C (n.*314T>C)
c.378+3257T>C
c.517T>C (p.Ser173Pro)
c.322T>C (p.Ser108Pro)
n.522T>C
n.715T>C
n.515T>C
 dbSNP gnomAD v3 gnomAD v4
14g.93218538T>GCA390810677UBR7c.613T>G (p.Ser205Ala)
c.385T>G (p.Ser129Ala)
c.*314T>G (n.*314T>G)
c.378+3257T>G
c.517T>G (p.Ser173Ala)
c.322T>G (p.Ser108Ala)
n.522T>G
n.715T>G
n.515T>G
14g.93218538T=CA2155441013UBR7c.613T= (p.Ser205=)
c.385T= (p.Ser129=)
c.*314T= (n.*314T=)
c.378+3257T=
c.517T= (p.Ser173=)
c.322T= (p.Ser108=)
n.522T=
n.715T=
n.515T=
14g.93218539C>ACA390810678UBR7c.614C>A (p.Ser205Tyr)
c.386C>A (p.Ser129Tyr)
c.*315C>A (n.*315C>A)
c.378+3258C>A
c.518C>A (p.Ser173Tyr)
c.323C>A (p.Ser108Tyr)
n.523C>A
n.716C>A
n.516C>A
14g.93218539C=CA2155441014UBR7c.614C= (p.Ser205=)
c.386C= (p.Ser129=)
c.*315C= (n.*315C=)
c.378+3258C=
c.518C= (p.Ser173=)
c.323C= (p.Ser108=)
n.523C=
n.716C=
n.516C=
14g.93218539C>GCA390810679UBR7c.614C>G (p.Ser205Cys)
c.386C>G (p.Ser129Cys)
c.*315C>G (n.*315C>G)
c.378+3258C>G
c.518C>G (p.Ser173Cys)
c.323C>G (p.Ser108Cys)
n.523C>G
n.716C>G
n.516C>G
 gnomAD v4
14g.93218539C>TCA390810680UBR7c.614C>T (p.Ser205Phe)
c.386C>T (p.Ser129Phe)
c.*315C>T (n.*315C>T)
c.378+3258C>T
c.518C>T (p.Ser173Phe)
c.323C>T (p.Ser108Phe)
n.523C>T
n.716C>T
n.516C>T
 dbSNP gnomAD v4
14g.93218540C>ACA487594045UBR7c.615C>A (p.Ser205=)
c.387C>A (p.Ser129=)
c.*316C>A (n.*316C>A)
c.378+3259C>A
c.519C>A (p.Ser173=)
c.324C>A (p.Ser108=)
n.524C>A
n.717C>A
n.517C>A
14g.93218540C>GCA487594044UBR7c.615C>G (p.Ser205=)
c.387C>G (p.Ser129=)
c.*316C>G (n.*316C>G)
c.378+3259C>G
c.519C>G (p.Ser173=)
c.324C>G (p.Ser108=)
n.524C>G
n.717C>G
n.517C>G
14g.93218540C>TCA487594043UBR7c.615C>T (p.Ser205=)
c.387C>T (p.Ser129=)
c.*316C>T (n.*316C>T)
c.378+3259C>T
c.519C>T (p.Ser173=)
c.324C>T (p.Ser108=)
n.524C>T
n.717C>T
n.517C>T
14g.93218541A>CCA390810683UBR7c.616A>C (p.Thr206Pro)
c.388A>C (p.Thr130Pro)
c.*317A>C (n.*317A>C)
c.378+3260A>C
c.520A>C (p.Thr174Pro)
c.325A>C (p.Thr109Pro)
n.525A>C
n.718A>C
n.518A>C
14g.93218541A>GCA390810681UBR7c.616A>G (p.Thr206Ala)
c.388A>G (p.Thr130Ala)
c.*317A>G (n.*317A>G)
c.378+3260A>G
c.520A>G (p.Thr174Ala)
c.325A>G (p.Thr109Ala)
n.525A>G
n.718A>G
n.518A>G
14g.93218541A>TCA390810682UBR7c.616A>T (p.Thr206Ser)
c.388A>T (p.Thr130Ser)
c.*317A>T (n.*317A>T)
c.378+3260A>T
c.520A>T (p.Thr174Ser)
c.325A>T (p.Thr109Ser)
n.525A>T
n.718A>T
n.518A>T
14g.93218542C>ACA390810684UBR7c.617C>A (p.Thr206Asn)
c.389C>A (p.Thr130Asn)
c.*318C>A (n.*318C>A)
c.378+3261C>A
c.521C>A (p.Thr174Asn)
c.326C>A (p.Thr109Asn)
n.526C>A
n.719C>A
n.519C>A
14g.93218542C>GCA390810685UBR7c.617C>G (p.Thr206Ser)
c.389C>G (p.Thr130Ser)
c.*318C>G (n.*318C>G)
c.378+3261C>G
c.521C>G (p.Thr174Ser)
c.326C>G (p.Thr109Ser)
n.526C>G
n.719C>G
n.519C>G
14g.93218542C>TCA390810686UBR7c.617C>T (p.Thr206Ile)
c.389C>T (p.Thr130Ile)
c.*318C>T (n.*318C>T)
c.378+3261C>T
c.521C>T (p.Thr174Ile)
c.326C>T (p.Thr109Ile)
n.526C>T
n.719C>T
n.519C>T
 gnomAD v4
14g.93218542_93218543delinsCTCA2155441015UBR7c.617_618delinsCT (p.Thr206=)
c.389_390delinsCT (p.Thr130=)
c.*318_*319delinsCT (n.*318_*319delinsCT)
c.378+3261_378+3262delinsCT
c.521_522delinsCT (p.Thr174=)
c.326_327delinsCT (p.Thr109=)
n.526_527delinsCT
n.719_720delinsCT
n.519_520delinsCT
14g.93218543delCA2155441017UBR7c.618del (p.Glu207ArgfsTer12)
c.390del (p.Glu131ArgfsTer12)
c.*319del (n.*319del)
c.378+3262del
c.522del (p.Glu175ArgfsTer?)
c.327del (p.Glu110ArgfsTer12)
n.527del
n.720del
n.520del
 ClinVar dbSNP
14g.93218543T>ACA487594046UBR7c.618T>A (p.Thr206=)
c.390T>A (p.Thr130=)
c.*319T>A (n.*319T>A)
c.378+3262T>A
c.522T>A (p.Thr174=)
c.327T>A (p.Thr109=)
n.527T>A
n.720T>A
n.520T>A
 gnomAD v4
14g.93218543T>CCA487594047UBR7c.618T>C (p.Thr206=)
c.390T>C (p.Thr130=)
c.*319T>C (n.*319T>C)
c.378+3262T>C
c.522T>C (p.Thr174=)
c.327T>C (p.Thr109=)
n.527T>C
n.720T>C
n.520T>C
 dbSNP gnomAD v3 gnomAD v4
14g.93218543T>GCA487594048UBR7c.618T>G (p.Thr206=)
c.390T>G (p.Thr130=)
c.*319T>G (n.*319T>G)
c.378+3262T>G
c.522T>G (p.Thr174=)
c.327T>G (p.Thr109=)
n.527T>G
n.720T>G
n.520T>G
14g.93218543T=CA2155441016UBR7c.618T= (p.Thr206=)
c.390T= (p.Thr130=)
c.*319T= (n.*319T=)
c.378+3262T=
c.522T= (p.Thr174=)
c.327T= (p.Thr109=)
n.527T=
n.720T=
n.520T=
14g.93218544G>ACA390810687UBR7c.619G>A (p.Glu207Lys)
c.391G>A (p.Glu131Lys)
c.*320G>A (n.*320G>A)
c.378+3263G>A
c.523G>A (p.Glu175Lys)
c.328G>A (p.Glu110Lys)
n.528G>A
n.721G>A
n.521G>A
14g.93218544G>CCA390810688UBR7c.619G>C (p.Glu207Gln)
c.391G>C (p.Glu131Gln)
c.*320G>C (n.*320G>C)
c.378+3263G>C
c.523G>C (p.Glu175Gln)
c.328G>C (p.Glu110Gln)
n.528G>C
n.721G>C
n.521G>C
14g.93218544G>TCA390810689UBR7c.619G>T (p.Glu207Ter)
c.391G>T (p.Glu131Ter)
c.*320G>T (n.*320G>T)
c.378+3263G>T
c.523G>T (p.Glu175Ter)
c.328G>T (p.Glu110Ter)
n.528G>T
n.721G>T
n.521G>T
14g.93218545A>CCA390810690UBR7c.620A>C (p.Glu207Ala)
c.392A>C (p.Glu131Ala)
c.*321A>C (n.*321A>C)
c.378+3264A>C
c.524A>C (p.Glu175Ala)
c.329A>C (p.Glu110Ala)
n.529A>C
n.722A>C
n.522A>C
14g.93218545A>GCA390810691UBR7c.620A>G (p.Glu207Gly)
c.392A>G (p.Glu131Gly)
c.*321A>G (n.*321A>G)
c.378+3264A>G
c.524A>G (p.Glu175Gly)
c.329A>G (p.Glu110Gly)
n.529A>G
n.722A>G
n.522A>G
14g.93218545A>TCA390810692UBR7c.620A>T (p.Glu207Val)
c.392A>T (p.Glu131Val)
c.*321A>T (n.*321A>T)
c.378+3264A>T
c.524A>T (p.Glu175Val)
c.329A>T (p.Glu110Val)
n.529A>T
n.722A>T
n.522A>T
14g.93218546G>ACA7319894UBR7c.621G>A (p.Glu207=)
c.393G>A (p.Glu131=)
c.*322G>A (n.*322G>A)
c.378+3265G>A
c.525G>A (p.Glu175=)
c.330G>A (p.Glu110=)
n.530G>A
n.723G>A
n.523G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218546G>CCA390810693UBR7c.621G>C (p.Glu207Asp)
c.393G>C (p.Glu131Asp)
c.*322G>C (n.*322G>C)
c.378+3265G>C
c.525G>C (p.Glu175Asp)
c.330G>C (p.Glu110Asp)
n.530G>C
n.723G>C
n.523G>C
14g.93218546G=CA2155441018UBR7c.621G= (p.Glu207=)
c.393G= (p.Glu131=)
c.*322G= (n.*322G=)
c.378+3265G=
c.525G= (p.Glu175=)
c.330G= (p.Glu110=)
n.530G=
n.723G=
n.523G=
14g.93218546G>TCA390810694UBR7c.621G>T (p.Glu207Asp)
c.393G>T (p.Glu131Asp)
c.*322G>T (n.*322G>T)
c.378+3265G>T
c.525G>T (p.Glu175Asp)
c.330G>T (p.Glu110Asp)
n.530G>T
n.723G>T
n.523G>T
14g.93218547G>ACA390810695UBR7c.622G>A (p.Asp208Asn)
c.394G>A (p.Asp132Asn)
c.*323G>A (n.*323G>A)
c.378+3266G>A
c.526G>A (p.Asp176Asn)
c.331G>A (p.Asp111Asn)
n.531G>A
n.724G>A
n.524G>A
14g.93218547G>CCA390810696UBR7c.622G>C (p.Asp208His)
c.394G>C (p.Asp132His)
c.*323G>C (n.*323G>C)
c.378+3266G>C
c.526G>C (p.Asp176His)
c.331G>C (p.Asp111His)
n.531G>C
n.724G>C
n.524G>C
14g.93218547G=CA2155441019UBR7c.622G= (p.Asp208=)
c.394G= (p.Asp132=)
c.*323G= (n.*323G=)
c.378+3266G=
c.526G= (p.Asp176=)
c.331G= (p.Asp111=)
n.531G=
n.724G=
n.524G=
14g.93218547G>TCA7319895UBR7c.622G>T (p.Asp208Tyr)
c.394G>T (p.Asp132Tyr)
c.*323G>T (n.*323G>T)
c.378+3266G>T
c.526G>T (p.Asp176Tyr)
c.331G>T (p.Asp111Tyr)
n.531G>T
n.724G>T
n.524G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218548A>CCA390810697UBR7c.623A>C (p.Asp208Ala)
c.395A>C (p.Asp132Ala)
c.*324A>C (n.*324A>C)
c.378+3267A>C
c.527A>C (p.Asp176Ala)
c.332A>C (p.Asp111Ala)
n.532A>C
n.725A>C
n.525A>C
14g.93218548A>GCA390810699UBR7c.623A>G (p.Asp208Gly)
c.395A>G (p.Asp132Gly)
c.*324A>G (n.*324A>G)
c.378+3267A>G
c.527A>G (p.Asp176Gly)
c.332A>G (p.Asp111Gly)
n.532A>G
n.725A>G
n.525A>G
 gnomAD v4
14g.93218548A>TCA390810698UBR7c.623A>T (p.Asp208Val)
c.395A>T (p.Asp132Val)
c.*324A>T (n.*324A>T)
c.378+3267A>T
c.527A>T (p.Asp176Val)
c.332A>T (p.Asp111Val)
n.532A>T
n.725A>T
n.525A>T
14g.93218549T>ACA390810700UBR7c.624T>A (p.Asp208Glu)
c.396T>A (p.Asp132Glu)
c.*325T>A (n.*325T>A)
c.378+3268T>A
c.528T>A (p.Asp176Glu)
c.333T>A (p.Asp111Glu)
n.533T>A
n.726T>A
n.526T>A
14g.93218549T>CCA487594049UBR7c.624T>C (p.Asp208=)
c.396T>C (p.Asp132=)
c.*325T>C (n.*325T>C)
c.378+3268T>C
c.528T>C (p.Asp176=)
c.333T>C (p.Asp111=)
n.533T>C
n.726T>C
n.526T>C
14g.93218549T>GCA390810701UBR7c.624T>G (p.Asp208Glu)
c.396T>G (p.Asp132Glu)
c.*325T>G (n.*325T>G)
c.378+3268T>G
c.528T>G (p.Asp176Glu)
c.333T>G (p.Asp111Glu)
n.533T>G
n.726T>G
n.526T>G
14g.93218550G>ACA7319896UBR7c.625G>A (p.Asp209Asn)
c.397G>A (p.Asp133Asn)
c.*326G>A (n.*326G>A)
c.378+3269G>A
c.529G>A (p.Asp177Asn)
c.334G>A (p.Asp112Asn)
n.534G>A
n.727G>A
n.527G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218550G>CCA390810702UBR7c.625G>C (p.Asp209His)
c.397G>C (p.Asp133His)
c.*326G>C (n.*326G>C)
c.378+3269G>C
c.529G>C (p.Asp177His)
c.334G>C (p.Asp112His)
n.534G>C
n.727G>C
n.527G>C
14g.93218550G=CA2155441020UBR7c.625G= (p.Asp209=)
c.397G= (p.Asp133=)
c.*326G= (n.*326G=)
c.378+3269G=
c.529G= (p.Asp177=)
c.334G= (p.Asp112=)
n.534G=
n.727G=
n.527G=
14g.93218550G>TCA265761398UBR7c.625G>T (p.Asp209Tyr)
c.397G>T (p.Asp133Tyr)
c.*326G>T (n.*326G>T)
c.378+3269G>T
c.529G>T (p.Asp177Tyr)
c.334G>T (p.Asp112Tyr)
n.534G>T
n.727G>T
n.527G>T
 dbSNP gnomAD v3 gnomAD v4
14g.93218551A>CCA390810703UBR7c.626A>C (p.Asp209Ala)
c.398A>C (p.Asp133Ala)
c.*327A>C (n.*327A>C)
c.378+3270A>C
c.530A>C (p.Asp177Ala)
c.335A>C (p.Asp112Ala)
n.535A>C
n.728A>C
n.528A>C
14g.93218551A>GCA390810704UBR7c.626A>G (p.Asp209Gly)
c.398A>G (p.Asp133Gly)
c.*327A>G (n.*327A>G)
c.378+3270A>G
c.530A>G (p.Asp177Gly)
c.335A>G (p.Asp112Gly)
n.535A>G
n.728A>G
n.528A>G
14g.93218551A>TCA390810705UBR7c.626A>T (p.Asp209Val)
c.398A>T (p.Asp133Val)
c.*327A>T (n.*327A>T)
c.378+3270A>T
c.530A>T (p.Asp177Val)
c.335A>T (p.Asp112Val)
n.535A>T
n.728A>T
n.528A>T
14g.93218552T>ACA390810706UBR7c.627T>A (p.Asp209Glu)
c.399T>A (p.Asp133Glu)
c.*328T>A (n.*328T>A)
c.378+3271T>A
c.531T>A (p.Asp177Glu)
c.336T>A (p.Asp112Glu)
n.536T>A
n.729T>A
n.529T>A
14g.93218552T>CCA487594050UBR7c.627T>C (p.Asp209=)
c.399T>C (p.Asp133=)
c.*328T>C (n.*328T>C)
c.378+3271T>C
c.531T>C (p.Asp177=)
c.336T>C (p.Asp112=)
n.536T>C
n.729T>C
n.529T>C
 gnomAD v4
14g.93218552T>GCA390810707UBR7c.627T>G (p.Asp209Glu)
c.399T>G (p.Asp133Glu)
c.*328T>G (n.*328T>G)
c.378+3271T>G
c.531T>G (p.Asp177Glu)
c.336T>G (p.Asp112Glu)
n.536T>G
n.729T>G
n.529T>G
14g.93218553G>ACA390810708UBR7c.628G>A (p.Gly210Arg)
c.400G>A (p.Gly134Arg)
c.*329G>A (n.*329G>A)
c.378+3272G>A
c.532G>A (p.Gly178Arg)
c.337G>A (p.Gly113Arg)
n.537G>A
n.730G>A
n.530G>A
 COSMIC
14g.93218553G>CCA390810709UBR7c.628G>C (p.Gly210Arg)
c.400G>C (p.Gly134Arg)
c.*329G>C (n.*329G>C)
c.378+3272G>C
c.532G>C (p.Gly178Arg)
c.337G>C (p.Gly113Arg)
n.537G>C
n.730G>C
n.530G>C
14g.93218553G>TCA390810710UBR7c.628G>T (p.Gly210Ter)
c.400G>T (p.Gly134Ter)
c.*329G>T (n.*329G>T)
c.378+3272G>T
c.532G>T (p.Gly178Ter)
c.337G>T (p.Gly113Ter)
n.537G>T
n.730G>T
n.530G>T
14g.93218554G>ACA390810713UBR7c.629G>A (p.Gly210Glu)
c.401G>A (p.Gly134Glu)
c.*330G>A (n.*330G>A)
c.378+3273G>A
c.533G>A (p.Gly178Glu)
c.338G>A (p.Gly113Glu)
n.538G>A
n.731G>A
n.531G>A
14g.93218554G>CCA390810711UBR7c.629G>C (p.Gly210Ala)
c.401G>C (p.Gly134Ala)
c.*330G>C (n.*330G>C)
c.378+3273G>C
c.533G>C (p.Gly178Ala)
c.338G>C (p.Gly113Ala)
n.538G>C
n.731G>C
n.531G>C
14g.93218554G>TCA390810712UBR7c.629G>T (p.Gly210Val)
c.401G>T (p.Gly134Val)
c.*330G>T (n.*330G>T)
c.378+3273G>T
c.533G>T (p.Gly178Val)
c.338G>T (p.Gly113Val)
n.538G>T
n.731G>T
n.531G>T
14g.93218555A>CCA487594051UBR7c.630A>C (p.Gly210=)
c.402A>C (p.Gly134=)
c.*331A>C (n.*331A>C)
c.378+3274A>C
c.534A>C (p.Gly178=)
c.339A>C (p.Gly113=)
n.539A>C
n.732A>C
n.532A>C
14g.93218555A>GCA487594052UBR7c.630A>G (p.Gly210=)
c.402A>G (p.Gly134=)
c.*331A>G (n.*331A>G)
c.378+3274A>G
c.534A>G (p.Gly178=)
c.339A>G (p.Gly113=)
n.539A>G
n.732A>G
n.532A>G
14g.93218555A>TCA487594053UBR7c.630A>T (p.Gly210=)
c.402A>T (p.Gly134=)
c.*331A>T (n.*331A>T)
c.378+3274A>T
c.534A>T (p.Gly178=)
c.339A>T (p.Gly113=)
n.539A>T
n.732A>T
n.532A>T
14g.93218555_93218556delinsATCA2155441021UBR7c.630_631delinsAT (p.Gly210=)
c.402_403delinsAT (p.Gly134=)
c.*331_*332delinsAT (n.*331_*332delinsAT)
c.378+3274_378+3275delinsAT
c.534_535delinsAT (p.Gly178=)
c.339_340delinsAT (p.Gly113=)
n.539_540delinsAT
n.732_733delinsAT
n.532_533delinsAT
14g.93218556T>ACA390810714UBR7c.631T>A (p.Leu211Met)
c.403T>A (p.Leu135Met)
c.*332T>A (n.*332T>A)
c.378+3275T>A
c.535T>A
c.340T>A (p.Leu114Met)
n.540T>A
n.733T>A
n.533T>A
14g.93218556T>CCA487594054UBR7c.631T>C (p.Leu211=)
c.403T>C (p.Leu135=)
c.*332T>C (n.*332T>C)
c.378+3275T>C
c.535T>C
c.340T>C (p.Leu114=)
n.540T>C
n.733T>C
n.533T>C
 dbSNP gnomAD v4
14g.93218556T>GCA390810715UBR7c.631T>G (p.Leu211Val)
c.403T>G (p.Leu135Val)
c.*332T>G (n.*332T>G)
c.378+3275T>G
c.535T>G
c.340T>G (p.Leu114Val)
n.540T>G
n.733T>G
n.533T>G
14g.93218556T=CA2155441022UBR7c.631T= (p.Leu211=)
c.403T= (p.Leu135=)
c.*332T= (n.*332T=)
c.378+3275T=
c.535T=
c.340T= (p.Leu114=)
n.540T=
n.733T=
n.533T=
14g.93218557delCA2155441023UBR7c.632del (p.Leu211TrpfsTer8)
c.404del (p.Leu135TrpfsTer8)
c.*333del (n.*333del)
c.378+3276del
c.536del
c.341del (p.Leu114TrpfsTer8)
n.541del
n.734del
n.534del
 dbSNP
14g.93218557T>ACA390810716UBR7c.632T>A (p.Leu211Ter)
c.404T>A (p.Leu135Ter)
c.*333T>A (n.*333T>A)
c.378+3276T>A
c.536T>A
c.341T>A (p.Leu114Ter)
n.541T>A
n.734T>A
n.534T>A
14g.93218557T>CCA265761402UBR7c.632T>C (p.Leu211Ser)
c.404T>C (p.Leu135Ser)
c.*333T>C (n.*333T>C)
c.378+3276T>C
c.536T>C
c.341T>C (p.Leu114Ser)
n.541T>C
n.734T>C
n.534T>C
 dbSNP
14g.93218557T>GCA390810717UBR7c.632T>G (p.Leu211Trp)
c.404T>G (p.Leu135Trp)
c.*333T>G (n.*333T>G)
c.378+3276T>G
c.536T>G
c.341T>G (p.Leu114Trp)
n.541T>G
n.734T>G
n.534T>G
14g.93218557T=CA2155441024UBR7c.632T= (p.Leu211=)
c.404T= (p.Leu135=)
c.*333T= (n.*333T=)
c.378+3276T=
c.536T=
c.341T= (p.Leu114=)
n.541T=
n.734T=
n.534T=
14g.93218558G>ACA487594055UBR7c.633G>A (p.Leu211=)
c.405G>A (p.Leu135=)
c.*334G>A (n.*334G>A)
c.378+3277G>A
c.342G>A (p.Leu114=)
n.542G>A
n.735G>A
n.535G>A
14g.93218558G>CCA390810718UBR7c.633G>C (p.Leu211Phe)
c.405G>C (p.Leu135Phe)
c.*334G>C (n.*334G>C)
c.378+3277G>C
c.342G>C (p.Leu114Phe)
n.542G>C
n.735G>C
n.535G>C
 gnomAD v4
14g.93218558G>TCA390810719UBR7c.633G>T (p.Leu211Phe)
c.405G>T (p.Leu135Phe)
c.*334G>T (n.*334G>T)
c.378+3277G>T
c.342G>T (p.Leu114Phe)
n.542G>T
n.735G>T
n.535G>T
14g.93218559G>ACA390810720UBR7c.634G>A (p.Val212Met)
c.406G>A (p.Val136Met)
c.*335G>A (n.*335G>A)
c.378+3278G>A
c.343G>A (p.Val115Met)
n.543G>A
n.736G>A
n.536G>A
 dbSNP gnomAD v2
14g.93218559G>CCA390810721UBR7c.634G>C (p.Val212Leu)
c.406G>C (p.Val136Leu)
c.*335G>C (n.*335G>C)
c.378+3278G>C
c.343G>C (p.Val115Leu)
n.543G>C
n.736G>C
n.536G>C
14g.93218559G=CA2155441025UBR7c.634G= (p.Val212=)
c.406G= (p.Val136=)
c.*335G= (n.*335G=)
c.378+3278G=
c.343G= (p.Val115=)
n.543G=
n.736G=
n.536G=
14g.93218559G>TCA390810722UBR7c.634G>T (p.Val212Leu)
c.406G>T (p.Val136Leu)
c.*335G>T (n.*335G>T)
c.378+3278G>T
c.343G>T (p.Val115Leu)
n.543G>T
n.736G>T
n.536G>T
14g.93218560T>ACA390810724UBR7c.635T>A (p.Val212Glu)
c.407T>A (p.Val136Glu)
c.*336T>A (n.*336T>A)
c.378+3279T>A
c.344T>A (p.Val115Glu)
n.544T>A
n.737T>A
n.537T>A
14g.93218560T>CCA390810725UBR7c.635T>C (p.Val212Ala)
c.407T>C (p.Val136Ala)
c.*336T>C (n.*336T>C)
c.378+3279T>C
c.344T>C (p.Val115Ala)
n.544T>C
n.737T>C
n.537T>C
 gnomAD v4
14g.93218560T>GCA390810723UBR7c.635T>G (p.Val212Gly)
c.407T>G (p.Val136Gly)
c.*336T>G (n.*336T>G)
c.378+3279T>G
c.344T>G (p.Val115Gly)
n.544T>G
n.737T>G
n.537T>G
14g.93218561G>ACA7319897UBR7c.636G>A (p.Val212=)
c.408G>A (p.Val136=)
c.*337G>A (n.*337G>A)
c.378+3280G>A
c.345G>A (p.Val115=)
n.545G>A
n.738G>A
n.538G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218561G>CCA487594057UBR7c.636G>C (p.Val212=)
c.408G>C (p.Val136=)
c.*337G>C (n.*337G>C)
c.378+3280G>C
c.345G>C (p.Val115=)
n.545G>C
n.738G>C
n.538G>C
14g.93218561G=CA2155441026UBR7c.636G= (p.Val212=)
c.408G= (p.Val136=)
c.*337G= (n.*337G=)
c.378+3280G=
c.345G= (p.Val115=)
n.545G=
n.738G=
n.538G=
14g.93218561G>TCA487594056UBR7c.636G>T (p.Val212=)
c.408G>T (p.Val136=)
c.*337G>T (n.*337G>T)
c.378+3280G>T
c.345G>T (p.Val115=)
n.545G>T
n.738G>T
n.538G>T
14g.93218562C>ACA487594058UBR7c.637C>A (p.Arg213=)
c.409C>A (p.Arg137=)
c.*338C>A (n.*338C>A)
c.378+3281C>A
c.346C>A (p.Arg116=)
n.546C>A
n.739C>A
n.539C>A
14g.93218562C=CA2155441027UBR7c.637C= (p.Arg213=)
c.409C= (p.Arg137=)
c.*338C= (n.*338C=)
c.378+3281C=
c.346C= (p.Arg116=)
n.546C=
n.739C=
n.539C=
14g.93218562C>GCA390810726UBR7c.637C>G (p.Arg213Gly)
c.409C>G (p.Arg137Gly)
c.*338C>G (n.*338C>G)
c.378+3281C>G
c.346C>G (p.Arg116Gly)
n.546C>G
n.739C>G
n.539C>G
14g.93218562C>TCA7319898UBR7c.637C>T (p.Arg213Trp)
c.409C>T (p.Arg137Trp)
c.*338C>T (n.*338C>T)
c.378+3281C>T
c.346C>T (p.Arg116Trp)
n.546C>T
n.739C>T
n.539C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218563G>ACA265761406UBR7c.638G>A (p.Arg213Gln)
c.410G>A (p.Arg137Gln)
c.*339G>A (n.*339G>A)
c.378+3282G>A
c.347G>A (p.Arg116Gln)
n.547G>A
n.740G>A
n.540G>A
 dbSNP gnomAD v4 COSMIC
14g.93218563G>CCA390810727UBR7c.638G>C (p.Arg213Pro)
c.410G>C (p.Arg137Pro)
c.*339G>C (n.*339G>C)
c.378+3282G>C
c.347G>C (p.Arg116Pro)
n.547G>C
n.740G>C
n.540G>C
14g.93218563G=CA2155441028UBR7c.638G= (p.Arg213=)
c.410G= (p.Arg137=)
c.*339G= (n.*339G=)
c.378+3282G=
c.347G= (p.Arg116=)
n.547G=
n.740G=
n.540G=
14g.93218563G>TCA390810728UBR7c.638G>T (p.Arg213Leu)
c.410G>T (p.Arg137Leu)
c.*339G>T (n.*339G>T)
c.378+3282G>T
c.347G>T (p.Arg116Leu)
n.547G>T
n.740G>T
n.540G>T
14g.93218564G>ACA487594059UBR7c.639G>A (p.Arg213=)
c.411G>A (p.Arg137=)
c.*340G>A (n.*340G>A)
c.378+3283G>A
c.348G>A (p.Arg116=)
n.548G>A
n.741G>A
n.541G>A
14g.93218564G>CCA7319899UBR7c.639G>C (p.Arg213=)
c.411G>C (p.Arg137=)
c.*340G>C (n.*340G>C)
c.378+3283G>C
c.348G>C (p.Arg116=)
n.548G>C
n.741G>C
n.541G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218564G=CA2155441029UBR7c.639G= (p.Arg213=)
c.411G= (p.Arg137=)
c.*340G= (n.*340G=)
c.378+3283G=
c.348G= (p.Arg116=)
n.548G=
n.741G=
n.541G=
14g.93218564G>TCA487594060UBR7c.639G>T (p.Arg213=)
c.411G>T (p.Arg137=)
c.*340G>T (n.*340G>T)
c.378+3283G>T
c.348G>T (p.Arg116=)
n.548G>T
n.741G>T
n.541G>T
 dbSNP
14g.93218565A>CCA390810729UBR7c.640A>C (p.Asn214His)
c.412A>C (p.Asn138His)
c.*341A>C (n.*341A>C)
c.378+3284A>C
c.349A>C (p.Asn117His)
n.549A>C
n.742A>C
n.542A>C
14g.93218565A>GCA390810730UBR7c.640A>G (p.Asn214Asp)
c.412A>G (p.Asn138Asp)
c.*341A>G (n.*341A>G)
c.378+3284A>G
c.349A>G (p.Asn117Asp)
n.549A>G
n.742A>G
n.542A>G
14g.93218565A>TCA390810731UBR7c.640A>T (p.Asn214Tyr)
c.412A>T (p.Asn138Tyr)
c.*341A>T (n.*341A>T)
c.378+3284A>T
c.349A>T (p.Asn117Tyr)
n.549A>T
n.742A>T
n.542A>T
14g.93218566A>CCA390810732UBR7c.641A>C (p.Asn214Thr)
c.413A>C (p.Asn138Thr)
c.*342A>C (n.*342A>C)
c.378+3285A>C
c.350A>C (p.Asn117Thr)
n.550A>C
n.743A>C
n.543A>C
14g.93218566A>GCA390810733UBR7c.641A>G (p.Asn214Ser)
c.413A>G (p.Asn138Ser)
c.*342A>G (n.*342A>G)
c.378+3285A>G
c.350A>G (p.Asn117Ser)
n.550A>G
n.743A>G
n.543A>G
14g.93218566A>TCA390810734UBR7c.641A>T (p.Asn214Ile)
c.413A>T (p.Asn138Ile)
c.*342A>T (n.*342A>T)
c.378+3285A>T
c.350A>T (p.Asn117Ile)
n.550A>T
n.743A>T
n.543A>T
 dbSNP
14g.93218567C>ACA390810735UBR7c.642C>A (p.Asn214Lys)
c.414C>A (p.Asn138Lys)
c.*343C>A (n.*343C>A)
c.378+3286C>A
c.351C>A (p.Asn117Lys)
n.551C>A
n.744C>A
n.544C>A
14g.93218567C>GCA390810736UBR7c.642C>G (p.Asn214Lys)
c.414C>G (p.Asn138Lys)
c.*343C>G (n.*343C>G)
c.378+3286C>G
c.351C>G (p.Asn117Lys)
n.551C>G
n.744C>G
n.544C>G
14g.93218567C>TCA487594061UBR7c.642C>T (p.Asn214=)
c.414C>T (p.Asn138=)
c.*343C>T (n.*343C>T)
c.378+3286C>T
c.351C>T (p.Asn117=)
n.551C>T
n.744C>T
n.544C>T
14g.93218568A=CA2155441030UBR7c.643A= (p.Ile215=)
c.415A= (p.Ile139=)
c.*344A= (n.*344A=)
c.378+3287A=
c.352A= (p.Ile118=)
n.552A=
n.745A=
n.545A=
14g.93218568A>CCA390810737UBR7c.643A>C (p.Ile215Leu)
c.415A>C (p.Ile139Leu)
c.*344A>C (n.*344A>C)
c.378+3287A>C
c.352A>C (p.Ile118Leu)
n.552A>C
n.745A>C
n.545A>C
 dbSNP gnomAD v2 gnomAD v4
14g.93218568A>GCA390810738UBR7c.643A>G (p.Ile215Val)
c.415A>G (p.Ile139Val)
c.*344A>G (n.*344A>G)
c.378+3287A>G
c.352A>G (p.Ile118Val)
n.552A>G
n.745A>G
n.545A>G
 dbSNP gnomAD v3 gnomAD v4
14g.93218568A>TCA390810739UBR7c.643A>T (p.Ile215Phe)
c.415A>T (p.Ile139Phe)
c.*344A>T (n.*344A>T)
c.378+3287A>T
c.352A>T (p.Ile118Phe)
n.552A>T
n.745A>T
n.545A>T
14g.93218569T>ACA390810740UBR7c.644T>A (p.Ile215Asn)
c.416T>A (p.Ile139Asn)
c.*345T>A (n.*345T>A)
c.378+3288T>A
c.353T>A (p.Ile118Asn)
n.553T>A
n.746T>A
n.546T>A
14g.93218569T>CCA390810741UBR7c.644T>C (p.Ile215Thr)
c.416T>C (p.Ile139Thr)
c.*345T>C (n.*345T>C)
c.378+3288T>C
c.353T>C (p.Ile118Thr)
n.553T>C
n.746T>C
n.546T>C
14g.93218569T>GCA390810742UBR7c.644T>G (p.Ile215Ser)
c.416T>G (p.Ile139Ser)
c.*345T>G (n.*345T>G)
c.378+3288T>G
c.353T>G (p.Ile118Ser)
n.553T>G
n.746T>G
n.546T>G
14g.93218570T>ACA487594062UBR7c.645T>A (p.Ile215=)
c.417T>A (p.Ile139=)
c.*346T>A (n.*346T>A)
c.378+3289T>A
c.354T>A (p.Ile118=)
n.554T>A
n.747T>A
n.547T>A
14g.93218570T>CCA487594063UBR7c.645T>C (p.Ile215=)
c.417T>C (p.Ile139=)
c.*346T>C (n.*346T>C)
c.378+3289T>C
c.354T>C (p.Ile118=)
n.554T>C
n.747T>C
n.547T>C
14g.93218570T>GCA390810743UBR7c.645T>G (p.Ile215Met)
c.417T>G (p.Ile139Met)
c.*346T>G (n.*346T>G)
c.378+3289T>G
c.354T>G (p.Ile118Met)
n.554T>G
n.747T>G
n.547T>G
14g.93218571G>ACA390810745UBR7c.646G>A (p.Asp216Asn)
c.418G>A (p.Asp140Asn)
c.*347G>A (n.*347G>A)
c.378+3290G>A
c.355G>A (p.Asp119Asn)
n.555G>A
n.748G>A
n.548G>A
14g.93218571G>CCA390810747UBR7c.646G>C (p.Asp216His)
c.418G>C (p.Asp140His)
c.*347G>C (n.*347G>C)
c.378+3290G>C
c.355G>C (p.Asp119His)
n.555G>C
n.748G>C
n.548G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218571G=CA2155441031UBR7c.646G= (p.Asp216=)
c.418G= (p.Asp140=)
c.*347G= (n.*347G=)
c.378+3290G=
c.355G= (p.Asp119=)
n.555G=
n.748G=
n.548G=
14g.93218571G>TCA390810749UBR7c.646G>T (p.Asp216Tyr)
c.418G>T (p.Asp140Tyr)
c.*347G>T (n.*347G>T)
c.378+3290G>T
c.355G>T (p.Asp119Tyr)
n.555G>T
n.748G>T
n.548G>T
14g.93218572A>CCA390810750UBR7c.647A>C (p.Asp216Ala)
c.419A>C (p.Asp140Ala)
c.*348A>C (n.*348A>C)
c.378+3291A>C
c.356A>C (p.Asp119Ala)
n.556A>C
n.749A>C
n.549A>C
14g.93218572A>GCA390810752UBR7c.647A>G (p.Asp216Gly)
c.419A>G (p.Asp140Gly)
c.*348A>G (n.*348A>G)
c.378+3291A>G
c.356A>G (p.Asp119Gly)
n.556A>G
n.749A>G
n.549A>G
 gnomAD v4
14g.93218572A>TCA390810754UBR7c.647A>T (p.Asp216Val)
c.419A>T (p.Asp140Val)
c.*348A>T (n.*348A>T)
c.378+3291A>T
c.356A>T (p.Asp119Val)
n.556A>T
n.749A>T
n.549A>T
14g.93218573T>ACA390810759UBR7c.648T>A (p.Asp216Glu)
c.420T>A (p.Asp140Glu)
c.*349T>A (n.*349T>A)
c.378+3292T>A
c.357T>A (p.Asp119Glu)
n.557T>A
n.750T>A
n.550T>A
 dbSNP gnomAD v3 gnomAD v4
14g.93218573T>CCA487594064UBR7c.648T>C (p.Asp216=)
c.420T>C (p.Asp140=)
c.*349T>C (n.*349T>C)
c.378+3292T>C
c.357T>C (p.Asp119=)
n.557T>C
n.750T>C
n.550T>C
14g.93218573T>GCA390810756UBR7c.648T>G (p.Asp216Glu)
c.420T>G (p.Asp140Glu)
c.*349T>G (n.*349T>G)
c.378+3292T>G
c.357T>G (p.Asp119Glu)
n.557T>G
n.750T>G
n.550T>G
14g.93218573T=CA2155441032UBR7c.648T= (p.Asp216=)
c.420T= (p.Asp140=)
c.*349T= (n.*349T=)
c.378+3292T=
c.357T= (p.Asp119=)
n.557T=
n.750T=
n.550T=
14g.93218574G>ACA390810760UBR7c.649G>A (p.Gly217Arg)
c.421G>A (p.Gly141Arg)
c.*350G>A (n.*350G>A)
c.378+3293G>A
c.358G>A (p.Gly120Arg)
n.558G>A
n.751G>A
n.551G>A
14g.93218574G>CCA390810762UBR7c.649G>C (p.Gly217Arg)
c.421G>C (p.Gly141Arg)
c.*350G>C (n.*350G>C)
c.378+3293G>C
c.358G>C (p.Gly120Arg)
n.558G>C
n.751G>C
n.551G>C
14g.93218574G>TCA390810764UBR7c.649G>T (p.Gly217Ter)
c.421G>T (p.Gly141Ter)
c.*350G>T (n.*350G>T)
c.378+3293G>T
c.358G>T (p.Gly120Ter)
n.558G>T
n.751G>T
n.551G>T
14g.93218575G>ACA390810766UBR7c.650G>A (p.Gly217Glu)
c.422G>A (p.Gly141Glu)
c.*351G>A (n.*351G>A)
c.378+3294G>A
c.359G>A (p.Gly120Glu)
n.559G>A
n.752G>A
n.552G>A
14g.93218575G>CCA390810768UBR7c.650G>C (p.Gly217Ala)
c.422G>C (p.Gly141Ala)
c.*351G>C (n.*351G>C)
c.378+3294G>C
c.359G>C (p.Gly120Ala)
n.559G>C
n.752G>C
n.552G>C
14g.93218575G=CA2155441033UBR7c.650G= (p.Gly217=)
c.422G= (p.Gly141=)
c.*351G= (n.*351G=)
c.378+3294G=
c.359G= (p.Gly120=)
n.559G=
n.752G=
n.552G=
14g.93218575G>TCA7319900UBR7c.650G>T (p.Gly217Val)
c.422G>T (p.Gly141Val)
c.*351G>T (n.*351G>T)
c.378+3294G>T
c.359G>T (p.Gly120Val)
n.559G>T
n.752G>T
n.552G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218576A>CCA487594065UBR7c.651A>C (p.Gly217=)
c.423A>C (p.Gly141=)
c.*352A>C (n.*352A>C)
c.378+3295A>C
c.360A>C (p.Gly120=)
n.560A>C
n.753A>C
n.553A>C
14g.93218576A>GCA487594066UBR7c.651A>G (p.Gly217=)
c.423A>G (p.Gly141=)
c.*352A>G (n.*352A>G)
c.378+3295A>G
c.360A>G (p.Gly120=)
n.560A>G
n.753A>G
n.553A>G
14g.93218576A>TCA487594067UBR7c.651A>T (p.Gly217=)
c.423A>T (p.Gly141=)
c.*352A>T (n.*352A>T)
c.378+3295A>T
c.360A>T (p.Gly120=)
n.560A>T
n.753A>T
n.553A>T
14g.93218577A>CCA390810771UBR7c.652A>C (p.Ile218Leu)
c.424A>C (p.Ile142Leu)
c.*353A>C (n.*353A>C)
c.378+3296A>C
c.361A>C (p.Ile121Leu)
n.561A>C
n.754A>C
n.554A>C
14g.93218577A>GCA390810772UBR7c.652A>G (p.Ile218Val)
c.424A>G (p.Ile142Val)
c.*353A>G (n.*353A>G)
c.378+3296A>G
c.361A>G (p.Ile121Val)
n.561A>G
n.754A>G
n.554A>G
14g.93218577A>TCA390810774UBR7c.652A>T (p.Ile218Leu)
c.424A>T (p.Ile142Leu)
c.*353A>T (n.*353A>T)
c.378+3296A>T
c.361A>T (p.Ile121Leu)
n.561A>T
n.754A>T
n.554A>T
14g.93218578T>ACA390810776UBR7c.653T>A (p.Ile218Lys)
c.425T>A (p.Ile142Lys)
c.*354T>A (n.*354T>A)
c.378+3297T>A
c.362T>A (p.Ile121Lys)
n.562T>A
n.755T>A
n.555T>A
14g.93218578T>CCA7319901UBR7c.653T>C (p.Ile218Thr)
c.425T>C (p.Ile142Thr)
c.*354T>C (n.*354T>C)
c.378+3297T>C
c.362T>C (p.Ile121Thr)
n.562T>C
n.755T>C
n.555T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218578T>GCA390810779UBR7c.653T>G (p.Ile218Arg)
c.425T>G (p.Ile142Arg)
c.*354T>G (n.*354T>G)
c.378+3297T>G
c.362T>G (p.Ile121Arg)
n.562T>G
n.755T>G
n.555T>G
14g.93218578T=CA2155441034UBR7c.653T= (p.Ile218=)
c.425T= (p.Ile142=)
c.*354T= (n.*354T=)
c.378+3297T=
c.362T= (p.Ile121=)
n.562T=
n.755T=
n.555T=
14g.93218579A>CCA487594068UBR7c.654A>C (p.Ile218=)
c.426A>C (p.Ile142=)
c.*355A>C (n.*355A>C)
c.378+3298A>C
c.363A>C (p.Ile121=)
n.563A>C
n.756A>C
n.556A>C
14g.93218579A>GCA390810781UBR7c.654A>G (p.Ile218Met)
c.426A>G (p.Ile142Met)
c.*355A>G (n.*355A>G)
c.378+3298A>G
c.363A>G (p.Ile121Met)
n.563A>G
n.756A>G
n.556A>G
14g.93218579A>TCA487594069UBR7c.654A>T (p.Ile218=)
c.426A>T (p.Ile142=)
c.*355A>T (n.*355A>T)
c.378+3298A>T
c.363A>T (p.Ile121=)
n.563A>T
n.756A>T
n.556A>T
14g.93218580G>ACA390810787UBR7c.655G>A (p.Gly219Ser)
c.427G>A (p.Gly143Ser)
c.*356G>A (n.*356G>A)
c.378+3299G>A
c.364G>A (p.Gly122Ser)
n.564G>A
n.757G>A
n.557G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218580G>CCA390810785UBR7c.655G>C (p.Gly219Arg)
c.427G>C (p.Gly143Arg)
c.*356G>C (n.*356G>C)
c.378+3299G>C
c.364G>C (p.Gly122Arg)
n.564G>C
n.757G>C
n.557G>C
14g.93218580G=CA2155441035UBR7c.655G= (p.Gly219=)
c.427G= (p.Gly143=)
c.*356G= (n.*356G=)
c.378+3299G=
c.364G= (p.Gly122=)
n.564G=
n.757G=
n.557G=
14g.93218580G>TCA390810783UBR7c.655G>T (p.Gly219Cys)
c.427G>T (p.Gly143Cys)
c.*356G>T (n.*356G>T)
c.378+3299G>T
c.364G>T (p.Gly122Cys)
n.564G>T
n.757G>T
n.557G>T
14g.93218581G>ACA390810789UBR7c.656G>A (p.Gly219Asp)
c.428G>A (p.Gly143Asp)
c.*357G>A (n.*357G>A)
c.378+3300G>A
c.365G>A (p.Gly122Asp)
n.565G>A
n.758G>A
n.558G>A
14g.93218581G>CCA390810791UBR7c.656G>C (p.Gly219Ala)
c.428G>C (p.Gly143Ala)
c.*357G>C (n.*357G>C)
c.378+3300G>C
c.365G>C (p.Gly122Ala)
n.565G>C
n.758G>C
n.558G>C
14g.93218581G>TCA390810793UBR7c.656G>T (p.Gly219Val)
c.428G>T (p.Gly143Val)
c.*357G>T (n.*357G>T)
c.378+3300G>T
c.365G>T (p.Gly122Val)
n.565G>T
n.758G>T
n.558G>T
 gnomAD v4
14g.93218582T>ACA487594072UBR7c.657T>A (p.Gly219=)
c.429T>A (p.Gly143=)
c.*358T>A (n.*358T>A)
c.378+3301T>A
c.366T>A (p.Gly122=)
n.566T>A
n.759T>A
n.559T>A
14g.93218582T>CCA487594071UBR7c.657T>C (p.Gly219=)
c.429T>C (p.Gly143=)
c.*358T>C (n.*358T>C)
c.378+3301T>C
c.366T>C (p.Gly122=)
n.566T>C
n.759T>C
n.559T>C
14g.93218582T>GCA487594070UBR7c.657T>G (p.Gly219=)
c.429T>G (p.Gly143=)
c.*358T>G (n.*358T>G)
c.378+3301T>G
c.366T>G (p.Gly122=)
n.566T>G
n.759T>G
n.559T>G
14g.93218583G>ACA390810794UBR7c.658G>A (p.Asp220Asn)
c.430G>A (p.Asp144Asn)
c.*359G>A (n.*359G>A)
c.378+3302G>A
c.367G>A (p.Asp123Asn)
n.567G>A
n.760G>A
n.560G>A
 gnomAD v4
14g.93218583G>CCA390810796UBR7c.658G>C (p.Asp220His)
c.430G>C (p.Asp144His)
c.*359G>C (n.*359G>C)
c.378+3302G>C
c.367G>C (p.Asp123His)
n.567G>C
n.760G>C
n.560G>C
14g.93218583G=CA2155441036UBR7c.658G= (p.Asp220=)
c.430G= (p.Asp144=)
c.*359G= (n.*359G=)
c.378+3302G=
c.367G= (p.Asp123=)
n.567G=
n.760G=
n.560G=
14g.93218583G>TCA390810798UBR7c.658G>T (p.Asp220Tyr)
c.430G>T (p.Asp144Tyr)
c.*359G>T (n.*359G>T)
c.378+3302G>T
c.367G>T (p.Asp123Tyr)
n.567G>T
n.760G>T
n.560G>T
 dbSNP gnomAD v3 gnomAD v4
14g.93218584A>CCA390810800UBR7c.659A>C (p.Asp220Ala)
c.431A>C (p.Asp144Ala)
c.*360A>C (n.*360A>C)
c.378+3303A>C
c.368A>C (p.Asp123Ala)
n.568A>C
n.761A>C
n.561A>C
14g.93218584A>GCA390810802UBR7c.659A>G (p.Asp220Gly)
c.431A>G (p.Asp144Gly)
c.*360A>G (n.*360A>G)
c.378+3303A>G
c.368A>G (p.Asp123Gly)
n.568A>G
n.761A>G
n.561A>G
14g.93218584A>TCA390810804UBR7c.659A>T (p.Asp220Val)
c.431A>T (p.Asp144Val)
c.*360A>T (n.*360A>T)
c.378+3303A>T
c.368A>T (p.Asp123Val)
n.568A>T
n.761A>T
n.561A>T
14g.93218585T>ACA390810806UBR7c.660T>A (p.Asp220Glu)
c.432T>A (p.Asp144Glu)
c.*361T>A (n.*361T>A)
c.378+3304T>A
c.369T>A (p.Asp123Glu)
n.569T>A
n.762T>A
n.562T>A
14g.93218585T>CCA487594073UBR7c.660T>C (p.Asp220=)
c.432T>C (p.Asp144=)
c.*361T>C (n.*361T>C)
c.378+3304T>C
c.369T>C (p.Asp123=)
n.569T>C
n.762T>C
n.562T>C
14g.93218585T>GCA390810807UBR7c.660T>G (p.Asp220Glu)
c.432T>G (p.Asp144Glu)
c.*361T>G (n.*361T>G)
c.378+3304T>G
c.369T>G (p.Asp123Glu)
n.569T>G
n.762T>G
n.562T>G
14g.93218586C>ACA390810809UBR7c.661C>A (p.Gln221Lys)
c.433C>A (p.Gln145Lys)
c.*362C>A (n.*362C>A)
c.378+3305C>A
c.370C>A (p.Gln124Lys)
n.570C>A
n.763C>A
n.563C>A
14g.93218586C>GCA390810810UBR7c.661C>G (p.Gln221Glu)
c.433C>G (p.Gln145Glu)
c.*362C>G (n.*362C>G)
c.378+3305C>G
c.370C>G (p.Gln124Glu)
n.570C>G
n.763C>G
n.563C>G
14g.93218586C>TCA390810812UBR7c.661C>T (p.Gln221Ter)
c.433C>T (p.Gln145Ter)
c.*362C>T (n.*362C>T)
c.378+3305C>T
c.370C>T (p.Gln124Ter)
n.570C>T
n.763C>T
n.563C>T
14g.93218587A=CA2155441037UBR7c.662A= (p.Gln221=)
c.434A= (p.Gln145=)
c.*363A= (n.*363A=)
c.378+3306A=
c.371A= (p.Gln124=)
n.764A=
n.564A=
14g.93218587A>CCA390810816UBR7c.662A>C (p.Gln221Pro)
c.434A>C (p.Gln145Pro)
c.*363A>C (n.*363A>C)
c.378+3306A>C
c.371A>C (p.Gln124Pro)
n.764A>C
n.564A>C
14g.93218587A>GCA7319902UBR7c.662A>G (p.Gln221Arg)
c.434A>G (p.Gln145Arg)
c.*363A>G (n.*363A>G)
c.378+3306A>G
c.371A>G (p.Gln124Arg)
n.764A>G
n.564A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218587A>TCA390810815UBR7c.662A>T (p.Gln221Leu)
c.434A>T (p.Gln145Leu)
c.*363A>T (n.*363A>T)
c.378+3306A>T
c.371A>T (p.Gln124Leu)
n.764A>T
n.564A>T
14g.93218588G>ACA487594074UBR7c.663G>A (p.Gln221=)
c.435G>A (p.Gln145=)
c.*364G>A (n.*364G>A)
c.378+3307G>A
c.372G>A (p.Gln124=)
n.765G>A
n.565G>A
14g.93218588G>CCA390810819UBR7c.663G>C (p.Gln221His)
c.435G>C (p.Gln145His)
c.*364G>C (n.*364G>C)
c.378+3307G>C
c.372G>C (p.Gln124His)
n.765G>C
n.565G>C
14g.93218588G>TCA390810820UBR7c.663G>T (p.Gln221His)
c.435G>T (p.Gln145His)
c.*364G>T (n.*364G>T)
c.378+3307G>T
c.372G>T (p.Gln124His)
n.765G>T
n.565G>T
14g.93218589G>ACA390810822UBR7c.664G>A (p.Glu222Lys)
c.436G>A (p.Glu146Lys)
c.*365G>A (n.*365G>A)
c.378+3308G>A
c.373G>A (p.Glu125Lys)
n.766G>A
n.566G>A
 gnomAD v4
14g.93218589G>CCA390810823UBR7c.664G>C (p.Glu222Gln)
c.436G>C (p.Glu146Gln)
c.*365G>C (n.*365G>C)
c.378+3308G>C
c.373G>C (p.Glu125Gln)
n.766G>C
n.566G>C
14g.93218589G>TCA390810825UBR7c.664G>T (p.Glu222Ter)
c.436G>T (p.Glu146Ter)
c.*365G>T (n.*365G>T)
c.378+3308G>T
c.373G>T (p.Glu125Ter)
n.766G>T
n.566G>T
14g.93218589_93218598delinsGAAGTTATCACA2155441038UBR7c.664_673delinsGAAGTTATCA (p.Glu222=)
c.436_445delinsGAAGTTATCA (p.Glu146=)
c.*365_*374delinsGAAGTTATCA (n.*365_*374delinsGAAGTTATCA)
c.378+3308_378+3317delinsGAAGTTATCA
c.373_382delinsGAAGTTATCA (p.Glu125=)
n.766_775delinsGAAGTTATCA
n.566_575delinsGAAGTTATCA
14g.93218590A>CCA390810828UBR7c.665A>C (p.Glu222Ala)
c.437A>C (p.Glu146Ala)
c.*366A>C (n.*366A>C)
c.378+3309A>C
c.374A>C (p.Glu125Ala)
n.767A>C
n.567A>C
14g.93218590A>GCA390810829UBR7c.665A>G (p.Glu222Gly)
c.437A>G (p.Glu146Gly)
c.*366A>G (n.*366A>G)
c.378+3309A>G
c.374A>G (p.Glu125Gly)
n.767A>G
n.567A>G
14g.93218590A>TCA390810831UBR7c.665A>T (p.Glu222Val)
c.437A>T (p.Glu146Val)
c.*366A>T (n.*366A>T)
c.378+3309A>T
c.374A>T (p.Glu125Val)
n.767A>T
n.567A>T
14g.93218592_93218600delCA616113852UBR7c.667_675del (p.Val223_Lys225del)
c.439_447del (p.Val147_Lys149del)
c.*368_*376del (n.*368_*376del)
c.378+3311_378+3319del
c.376_384del (p.Val126_Lys128del)
n.769_777del
n.569_577del
 dbSNP gnomAD v2 gnomAD v4
14g.93218591A>CCA390810833UBR7c.666A>C (p.Glu222Asp)
c.438A>C (p.Glu146Asp)
c.*367A>C (n.*367A>C)
c.378+3310A>C
c.375A>C (p.Glu125Asp)
n.768A>C
n.568A>C
14g.93218591A>GCA487594075UBR7c.666A>G (p.Glu222=)
c.438A>G (p.Glu146=)
c.*367A>G (n.*367A>G)
c.378+3310A>G
c.375A>G (p.Glu125=)
n.768A>G
n.568A>G
14g.93218591A>TCA390810835UBR7c.666A>T (p.Glu222Asp)
c.438A>T (p.Glu146Asp)
c.*367A>T (n.*367A>T)
c.378+3310A>T
c.375A>T (p.Glu125Asp)
n.768A>T
n.568A>T
14g.93218592G>ACA390810837UBR7c.667G>A (p.Val223Ile)
c.439G>A (p.Val147Ile)
c.*368G>A (n.*368G>A)
c.378+3311G>A
c.376G>A (p.Val126Ile)
n.769G>A
n.569G>A
14g.93218592G>CCA390810838UBR7c.667G>C (p.Val223Leu)
c.439G>C (p.Val147Leu)
c.*368G>C (n.*368G>C)
c.378+3311G>C
c.376G>C (p.Val126Leu)
n.769G>C
n.569G>C
14g.93218592G>TCA390810841UBR7c.667G>T (p.Val223Phe)
c.439G>T (p.Val147Phe)
c.*368G>T (n.*368G>T)
c.378+3311G>T
c.376G>T (p.Val126Phe)
n.769G>T
n.569G>T
14g.93218593T>ACA390810843UBR7c.668T>A (p.Val223Asp)
c.440T>A (p.Val147Asp)
c.*369T>A (n.*369T>A)
c.378+3312T>A
c.377T>A (p.Val126Asp)
n.770T>A
n.570T>A
14g.93218593T>CCA390810847UBR7c.668T>C (p.Val223Ala)
c.440T>C (p.Val147Ala)
c.*369T>C (n.*369T>C)
c.378+3312T>C
c.377T>C (p.Val126Ala)
n.770T>C
n.570T>C
14g.93218593T>GCA390810845UBR7c.668T>G (p.Val223Gly)
c.440T>G (p.Val147Gly)
c.*369T>G (n.*369T>G)
c.378+3312T>G
c.377T>G (p.Val126Gly)
n.770T>G
n.570T>G
14g.93218594T>ACA487594076UBR7c.669T>A (p.Val223=)
c.441T>A (p.Val147=)
c.*370T>A (n.*370T>A)
c.378+3313T>A
c.378T>A (p.Val126=)
n.771T>A
n.571T>A
14g.93218594T>CCA7319903UBR7c.669T>C (p.Val223=)
c.441T>C (p.Val147=)
c.*370T>C (n.*370T>C)
c.378+3313T>C
c.378T>C (p.Val126=)
n.771T>C
n.571T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218594T>GCA487594077UBR7c.669T>G (p.Val223=)
c.441T>G (p.Val147=)
c.*370T>G (n.*370T>G)
c.378+3313T>G
c.378T>G (p.Val126=)
n.771T>G
n.571T>G
14g.93218594T=CA2155441039UBR7c.669T= (p.Val223=)
c.441T= (p.Val147=)
c.*370T= (n.*370T=)
c.378+3313T=
c.378T= (p.Val126=)
n.771T=
n.571T=
14g.93218595A>CCA390810850UBR7c.670A>C (p.Ile224Leu)
c.442A>C (p.Ile148Leu)
c.*371A>C (n.*371A>C)
c.378+3314A>C
c.379A>C (p.Ile127Leu)
n.772A>C
n.572A>C
14g.93218595A>GCA390810852UBR7c.670A>G (p.Ile224Val)
c.442A>G (p.Ile148Val)
c.*371A>G (n.*371A>G)
c.378+3314A>G
c.379A>G (p.Ile127Val)
n.772A>G
n.572A>G
14g.93218595A>TCA390810853UBR7c.670A>T (p.Ile224Phe)
c.442A>T (p.Ile148Phe)
c.*371A>T (n.*371A>T)
c.378+3314A>T
c.379A>T (p.Ile127Phe)
n.772A>T
n.572A>T
14g.93218596T>ACA390810856UBR7c.671T>A (p.Ile224Asn)
c.443T>A (p.Ile148Asn)
c.*372T>A (n.*372T>A)
c.378+3315T>A
c.380T>A (p.Ile127Asn)
n.773T>A
n.573T>A
14g.93218596T>CCA7319904UBR7c.671T>C (p.Ile224Thr)
c.443T>C (p.Ile148Thr)
c.*372T>C (n.*372T>C)
c.378+3315T>C
c.380T>C (p.Ile127Thr)
n.773T>C
n.573T>C
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.93218596T>GCA390810858UBR7c.671T>G (p.Ile224Ser)
c.443T>G (p.Ile148Ser)
c.*372T>G (n.*372T>G)
c.378+3315T>G
c.380T>G (p.Ile127Ser)
n.773T>G
n.573T>G
14g.93218596T=CA2155441040UBR7c.671T= (p.Ile224=)
c.443T= (p.Ile148=)
c.*372T= (n.*372T=)
c.378+3315T=
c.380T= (p.Ile127=)
n.773T=
n.573T=
14g.93218597C>ACA487594078UBR7c.672C>A (p.Ile224=)
c.444C>A (p.Ile148=)
c.*373C>A (n.*373C>A)
c.378+3316C>A
c.381C>A (p.Ile127=)
n.774C>A
n.574C>A
14g.93218597C>GCA390810861UBR7c.672C>G (p.Ile224Met)
c.444C>G (p.Ile148Met)
c.*373C>G (n.*373C>G)
c.378+3316C>G
c.381C>G (p.Ile127Met)
n.774C>G
n.574C>G
14g.93218597C>TCA487594079UBR7c.672C>T (p.Ile224=)
c.444C>T (p.Ile148=)
c.*373C>T (n.*373C>T)
c.378+3316C>T
c.381C>T (p.Ile127=)
n.774C>T
n.574C>T
14g.93218598A>CCA390810863UBR7c.673A>C (p.Lys225Gln)
c.445A>C (p.Lys149Gln)
c.*374A>C (n.*374A>C)
c.378+3317A>C
c.382A>C (p.Lys128Gln)
n.775A>C
n.575A>C
14g.93218598A>GCA390810864UBR7c.673A>G (p.Lys225Glu)
c.445A>G (p.Lys149Glu)
c.*374A>G (n.*374A>G)
c.378+3317A>G
c.382A>G (p.Lys128Glu)
n.775A>G
n.575A>G
14g.93218598A>TCA390810865UBR7c.673A>T (p.Lys225Ter)
c.445A>T (p.Lys149Ter)
c.*374A>T (n.*374A>T)
c.378+3317A>T
c.382A>T (p.Lys128Ter)
n.775A>T
n.575A>T
14g.93218599A=CA2155441041UBR7c.674A= (p.Lys225=)
c.446A= (p.Lys149=)
c.*375A= (n.*375A=)
c.378+3318A=
c.383A= (p.Lys128=)
n.776A=
n.576A=
14g.93218599A>CCA390810870UBR7c.674A>C (p.Lys225Thr)
c.446A>C (p.Lys149Thr)
c.*375A>C (n.*375A>C)
c.378+3318A>C
c.383A>C (p.Lys128Thr)
n.776A>C
n.576A>C
14g.93218599A>GCA7319905UBR7c.674A>G (p.Lys225Arg)
c.446A>G (p.Lys149Arg)
c.*375A>G (n.*375A>G)
c.378+3318A>G
c.383A>G (p.Lys128Arg)
n.776A>G
n.576A>G
 dbSNP ExAC gnomAD v2
14g.93218599A>TCA390810868UBR7c.674A>T (p.Lys225Ile)
c.446A>T (p.Lys149Ile)
c.*375A>T (n.*375A>T)
c.378+3318A>T
c.383A>T (p.Lys128Ile)
n.776A>T
n.576A>T
14g.93218600A>CCA390810875UBR7c.675A>C (p.Lys225Asn)
c.447A>C (p.Lys149Asn)
c.*376A>C (n.*376A>C)
c.378+3319A>C
c.384A>C (p.Lys128Asn)
n.777A>C
n.577A>C
14g.93218600A>GCA487594080UBR7c.675A>G (p.Lys225=)
c.447A>G (p.Lys149=)
c.*376A>G (n.*376A>G)
c.378+3319A>G
c.384A>G (p.Lys128=)
n.777A>G
n.577A>G
 COSMIC
14g.93218600A>TCA390810873UBR7c.675A>T (p.Lys225Asn)
c.447A>T (p.Lys149Asn)
c.*376A>T (n.*376A>T)
c.378+3319A>T
c.384A>T (p.Lys128Asn)
n.777A>T
n.577A>T
14g.93218601C>ACA390810881UBR7c.676C>A (p.Pro226Thr)
c.448C>A (p.Pro150Thr)
c.*377C>A (n.*377C>A)
c.378+3320C>A
c.385C>A (p.Pro129Thr)
n.778C>A
n.578C>A
14g.93218601C>GCA390810878UBR7c.676C>G (p.Pro226Ala)
c.448C>G (p.Pro150Ala)
c.*377C>G (n.*377C>G)
c.378+3320C>G
c.385C>G (p.Pro129Ala)
n.778C>G
n.578C>G
14g.93218601C>TCA390810879UBR7c.676C>T (p.Pro226Ser)
c.448C>T (p.Pro150Ser)
c.*377C>T (n.*377C>T)
c.378+3320C>T
c.385C>T (p.Pro129Ser)
n.778C>T
n.578C>T
14g.93218602C>ACA390810883UBR7c.677C>A (p.Pro226His)
c.449C>A (p.Pro150His)
c.*378C>A (n.*378C>A)
c.378+3321C>A
c.386C>A (p.Pro129His)
n.779C>A
n.579C>A
14g.93218602C=CA2155441042UBR7c.677C= (p.Pro226=)
c.449C= (p.Pro150=)
c.*378C= (n.*378C=)
c.378+3321C=
c.386C= (p.Pro129=)
n.779C=
n.579C=
14g.93218602C>GCA390810885UBR7c.677C>G (p.Pro226Arg)
c.449C>G (p.Pro150Arg)
c.*378C>G (n.*378C>G)
c.378+3321C>G
c.386C>G (p.Pro129Arg)
n.779C>G
n.579C>G
14g.93218602C>TCA7319906UBR7c.677C>T (p.Pro226Leu)
c.449C>T (p.Pro150Leu)
c.*378C>T (n.*378C>T)
c.378+3321C>T
c.386C>T (p.Pro129Leu)
n.779C>T
n.579C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218603T>ACA487594081UBR7c.678T>A (p.Pro226=)
c.450T>A (p.Pro150=)
c.*379T>A (n.*379T>A)
c.378+3322T>A
c.387T>A (p.Pro129=)
n.780T>A
n.580T>A
14g.93218603T>CCA487594082UBR7c.678T>C (p.Pro226=)
c.450T>C (p.Pro150=)
c.*379T>C (n.*379T>C)
c.378+3322T>C
c.387T>C (p.Pro129=)
n.780T>C
n.580T>C
14g.93218603T>GCA487594083UBR7c.678T>G (p.Pro226=)
c.450T>G (p.Pro150=)
c.*379T>G (n.*379T>G)
c.378+3322T>G
c.387T>G (p.Pro129=)
n.780T>G
n.580T>G
14g.93218604G>ACA390810888UBR7c.679G>A (p.Glu227Lys)
c.451G>A (p.Glu151Lys)
c.*380G>A (n.*380G>A)
c.378+3323G>A
c.388G>A (p.Glu130Lys)
n.781G>A
n.581G>A
14g.93218604G>CCA390810889UBR7c.679G>C (p.Glu227Gln)
c.451G>C (p.Glu151Gln)
c.*380G>C (n.*380G>C)
c.378+3323G>C
c.388G>C (p.Glu130Gln)
n.781G>C
n.581G>C
14g.93218604G>TCA390810890UBR7c.679G>T (p.Glu227Ter)
c.451G>T (p.Glu151Ter)
c.*380G>T (n.*380G>T)
c.378+3323G>T
c.388G>T (p.Glu130Ter)
n.781G>T
n.581G>T
14g.93218605A>CCA390810892UBR7c.680A>C (p.Glu227Ala)
c.452A>C (p.Glu151Ala)
c.*381A>C (n.*381A>C)
c.378+3324A>C
c.389A>C (p.Glu130Ala)
n.782A>C
n.582A>C
14g.93218605A>GCA390810894UBR7c.680A>G (p.Glu227Gly)
c.452A>G (p.Glu151Gly)
c.*381A>G (n.*381A>G)
c.378+3324A>G
c.389A>G (p.Glu130Gly)
n.782A>G
n.582A>G
 gnomAD v4
14g.93218605A>TCA390810895UBR7c.680A>T (p.Glu227Val)
c.452A>T (p.Glu151Val)
c.*381A>T (n.*381A>T)
c.378+3324A>T
c.389A>T (p.Glu130Val)
n.782A>T
n.582A>T
14g.93218606A>CCA390810897UBR7c.681A>C (p.Glu227Asp)
c.453A>C (p.Glu151Asp)
c.*382A>C (n.*382A>C)
c.378+3325A>C
c.390A>C (p.Glu130Asp)
n.783A>C
n.583A>C
14g.93218606A>GCA487594084UBR7c.681A>G (p.Glu227=)
c.453A>G (p.Glu151=)
c.*382A>G (n.*382A>G)
c.378+3325A>G
c.390A>G (p.Glu130=)
n.783A>G
n.583A>G
14g.93218606A>TCA390810899UBR7c.681A>T (p.Glu227Asp)
c.453A>T (p.Glu151Asp)
c.*382A>T (n.*382A>T)
c.378+3325A>T
c.390A>T (p.Glu130Asp)
n.783A>T
n.583A>T
14g.93218607A>CCA390810905UBR7c.682A>C (p.Asn228His)
c.454A>C (p.Asn152His)
c.*383A>C (n.*383A>C)
c.378+3326A>C
c.391A>C (p.Asn131His)
n.784A>C
n.584A>C
14g.93218607A>GCA390810904UBR7c.682A>G (p.Asn228Asp)
c.454A>G (p.Asn152Asp)
c.*383A>G (n.*383A>G)
c.378+3326A>G
c.391A>G (p.Asn131Asp)
n.784A>G
n.584A>G
14g.93218607A>TCA390810902UBR7c.682A>T (p.Asn228Tyr)
c.454A>T (p.Asn152Tyr)
c.*383A>T (n.*383A>T)
c.378+3326A>T
c.391A>T (p.Asn131Tyr)
n.784A>T
n.584A>T
14g.93218608A>CCA390810908UBR7c.683A>C (p.Asn228Thr)
c.455A>C (p.Asn152Thr)
c.*384A>C (n.*384A>C)
c.378+3327A>C
c.392A>C (p.Asn131Thr)
n.785A>C
n.585A>C
14g.93218608A>GCA390810909UBR7c.683A>G (p.Asn228Ser)
c.455A>G (p.Asn152Ser)
c.*384A>G (n.*384A>G)
c.378+3327A>G
c.392A>G (p.Asn131Ser)
n.785A>G
n.585A>G
 gnomAD v4
14g.93218608A>TCA390810911UBR7c.683A>T (p.Asn228Ile)
c.455A>T (p.Asn152Ile)
c.*384A>T (n.*384A>T)
c.378+3327A>T
c.392A>T (p.Asn131Ile)
n.785A>T
n.585A>T
14g.93218609T>ACA390810913UBR7c.684T>A (p.Asn228Lys)
c.456T>A (p.Asn152Lys)
c.*385T>A (n.*385T>A)
c.378+3328T>A
c.393T>A (p.Asn131Lys)
n.786T>A
n.586T>A
14g.93218609T>CCA487594086UBR7c.684T>C (p.Asn228=)
c.456T>C (p.Asn152=)
c.*385T>C (n.*385T>C)
c.378+3328T>C
c.393T>C (p.Asn131=)
n.786T>C
n.586T>C
14g.93218609T>GCA390810914UBR7c.684T>G (p.Asn228Lys)
c.456T>G (p.Asn152Lys)
c.*385T>G (n.*385T>G)
c.378+3328T>G
c.393T>G (p.Asn131Lys)
n.786T>G
n.586T>G
14g.93218610G>ACA390810917UBR7c.685G>A (p.Gly229Arg)
c.457G>A (p.Gly153Arg)
c.*386G>A (n.*386G>A)
c.378+3329G>A
c.394G>A (p.Gly132Arg)
n.787G>A
n.587G>A
14g.93218610G>CCA390810918UBR7c.685G>C (p.Gly229Arg)
c.457G>C (p.Gly153Arg)
c.*386G>C (n.*386G>C)
c.378+3329G>C
c.394G>C (p.Gly132Arg)
n.787G>C
n.587G>C
14g.93218610G>TCA390810921UBR7c.685G>T (p.Gly229Ter)
c.457G>T (p.Gly153Ter)
c.*386G>T (n.*386G>T)
c.378+3329G>T
c.394G>T (p.Gly132Ter)
n.787G>T
n.587G>T
14g.93218611G>ACA390810922UBR7c.686G>A (p.Gly229Glu)
c.458G>A (p.Gly153Glu)
c.*387G>A (n.*387G>A)
c.378+3330G>A
c.395G>A (p.Gly132Glu)
n.788G>A
n.588G>A
 gnomAD v4
14g.93218611G>CCA390810924UBR7c.686G>C (p.Gly229Ala)
c.458G>C (p.Gly153Ala)
c.*387G>C (n.*387G>C)
c.378+3330G>C
c.395G>C (p.Gly132Ala)
n.788G>C
n.588G>C
14g.93218611G>TCA390810926UBR7c.686G>T (p.Gly229Val)
c.458G>T (p.Gly153Val)
c.*387G>T (n.*387G>T)
c.378+3330G>T
c.395G>T (p.Gly132Val)
n.788G>T
n.588G>T
 COSMIC
14g.93218612A>CCA487594087UBR7c.687A>C (p.Gly229=)
c.459A>C (p.Gly153=)
c.*388A>C (n.*388A>C)
c.378+3331A>C
c.396A>C (p.Gly132=)
n.789A>C
n.589A>C
14g.93218612A>GCA487594088UBR7c.687A>G (p.Gly229=)
c.459A>G (p.Gly153=)
c.*388A>G (n.*388A>G)
c.378+3331A>G
c.396A>G (p.Gly132=)
n.789A>G
n.589A>G
14g.93218612A>TCA487594089UBR7c.687A>T (p.Gly229=)
c.459A>T (p.Gly153=)
c.*388A>T (n.*388A>T)
c.378+3331A>T
c.396A>T (p.Gly132=)
n.789A>T
n.589A>T
14g.93218613G>ACA7319907UBR7c.688G>A (p.Glu230Lys)
c.460G>A (p.Glu154Lys)
c.*389G>A (n.*389G>A)
c.378+3332G>A
c.397G>A (p.Glu133Lys)
n.790G>A
n.590G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218613G>CCA390810929UBR7c.688G>C (p.Glu230Gln)
c.460G>C (p.Glu154Gln)
c.*389G>C (n.*389G>C)
c.378+3332G>C
c.397G>C (p.Glu133Gln)
n.790G>C
n.590G>C
14g.93218613G=CA2155441043UBR7c.688G= (p.Glu230=)
c.460G= (p.Glu154=)
c.*389G= (n.*389G=)
c.378+3332G=
c.397G= (p.Glu133=)
n.790G=
n.590G=
14g.93218613G>TCA390810931UBR7c.688G>T (p.Glu230Ter)
c.460G>T (p.Glu154Ter)
c.*389G>T (n.*389G>T)
c.378+3332G>T
c.397G>T (p.Glu133Ter)
n.790G>T
n.590G>T
14g.93218614A>CCA390810935UBR7c.689A>C (p.Glu230Ala)
c.461A>C (p.Glu154Ala)
c.*390A>C (n.*390A>C)
c.378+3333A>C
c.398A>C (p.Glu133Ala)
n.791A>C
n.591A>C
14g.93218614A>GCA390810937UBR7c.689A>G (p.Glu230Gly)
c.461A>G (p.Glu154Gly)
c.*390A>G (n.*390A>G)
c.378+3333A>G
c.398A>G (p.Glu133Gly)
n.791A>G
n.591A>G
14g.93218614A>TCA390810933UBR7c.689A>T (p.Glu230Val)
c.461A>T (p.Glu154Val)
c.*390A>T (n.*390A>T)
c.378+3333A>T
c.398A>T (p.Glu133Val)
n.791A>T
n.591A>T
14g.93218615G>ACA487594090UBR7c.690G>A (p.Glu230=)
c.462G>A (p.Glu154=)
c.*391G>A (n.*391G>A)
c.378+3334G>A
c.399G>A (p.Glu133=)
n.792G>A
n.592G>A
 COSMIC
14g.93218615G>CCA390810939UBR7c.690G>C (p.Glu230Asp)
c.462G>C (p.Glu154Asp)
c.*391G>C (n.*391G>C)
c.378+3334G>C
c.399G>C (p.Glu133Asp)
n.792G>C
n.592G>C
14g.93218615G>TCA390810941UBR7c.690G>T (p.Glu230Asp)
c.462G>T (p.Glu154Asp)
c.*391G>T (n.*391G>T)
c.378+3334G>T
c.399G>T (p.Glu133Asp)
n.792G>T
n.592G>T
14g.93218616C>ACA7319908UBR7c.691C>A (p.His231Asn)
c.463C>A (p.His155Asn)
c.*392C>A (n.*392C>A)
c.378+3335C>A
c.400C>A (p.His134Asn)
n.793C>A
n.593C>A
 dbSNP ExAC
14g.93218616C=CA2155441044UBR7c.691C= (p.His231=)
c.463C= (p.His155=)
c.*392C= (n.*392C=)
c.378+3335C=
c.400C= (p.His134=)
n.793C=
n.593C=
14g.93218616C>GCA390810943UBR7c.691C>G (p.His231Asp)
c.463C>G (p.His155Asp)
c.*392C>G (n.*392C>G)
c.378+3335C>G
c.400C>G (p.His134Asp)
n.793C>G
n.593C>G
14g.93218616C>TCA390810945UBR7c.691C>T (p.His231Tyr)
c.463C>T (p.His155Tyr)
c.*392C>T (n.*392C>T)
c.378+3335C>T
c.400C>T (p.His134Tyr)
n.793C>T
n.593C>T
14g.93218617A>CCA390810947UBR7c.692A>C (p.His231Pro)
c.464A>C (p.His155Pro)
c.*393A>C (n.*393A>C)
c.378+3336A>C
c.401A>C (p.His134Pro)
n.794A>C
n.594A>C
14g.93218617A>GCA390810949UBR7c.692A>G (p.His231Arg)
c.464A>G (p.His155Arg)
c.*393A>G (n.*393A>G)
c.378+3336A>G
c.401A>G (p.His134Arg)
n.794A>G
n.594A>G
14g.93218617A>TCA390810951UBR7c.692A>T (p.His231Leu)
c.464A>T (p.His155Leu)
c.*393A>T (n.*393A>T)
c.378+3336A>T
c.401A>T (p.His134Leu)
n.794A>T
n.594A>T
14g.93218618T>ACA390810952UBR7c.693T>A (p.His231Gln)
c.465T>A (p.His155Gln)
c.*394T>A (n.*394T>A)
c.378+3337T>A
c.402T>A (p.His134Gln)
n.795T>A
n.595T>A
14g.93218618T>CCA487594091UBR7c.693T>C (p.His231=)
c.465T>C (p.His155=)
c.*394T>C (n.*394T>C)
c.378+3337T>C
c.402T>C (p.His134=)
n.795T>C
n.595T>C
14g.93218618T>GCA390810953UBR7c.693T>G (p.His231Gln)
c.465T>G (p.His155Gln)
c.*394T>G (n.*394T>G)
c.378+3337T>G
c.402T>G (p.His134Gln)
n.795T>G
n.595T>G
14g.93218619C>ACA390810954UBR7c.694C>A (p.Gln232Lys)
c.466C>A (p.Gln156Lys)
c.*395C>A (n.*395C>A)
c.378+3338C>A
c.403C>A (p.Gln135Lys)
n.796C>A
n.596C>A
14g.93218619C=CA2155441045UBR7c.694C= (p.Gln232=)
c.466C= (p.Gln156=)
c.*395C= (n.*395C=)
c.378+3338C=
c.403C= (p.Gln135=)
n.796C=
n.596C=
14g.93218619C>GCA390810955UBR7c.694C>G (p.Gln232Glu)
c.466C>G (p.Gln156Glu)
c.*395C>G (n.*395C>G)
c.378+3338C>G
c.403C>G (p.Gln135Glu)
n.796C>G
n.596C>G
 dbSNP gnomAD v2 gnomAD v4
14g.93218619C>TCA390810956UBR7c.694C>T (p.Gln232Ter)
c.466C>T (p.Gln156Ter)
c.*395C>T (n.*395C>T)
c.378+3338C>T
c.403C>T (p.Gln135Ter)
n.796C>T
n.596C>T
14g.93218620A>CCA390810957UBR7c.695A>C (p.Gln232Pro)
c.467A>C (p.Gln156Pro)
c.*396A>C (n.*396A>C)
c.378+3339A>C
c.404A>C (p.Gln135Pro)
n.797A>C
n.597A>C
14g.93218620A>GCA390810959UBR7c.695A>G (p.Gln232Arg)
c.467A>G (p.Gln156Arg)
c.*396A>G (n.*396A>G)
c.378+3339A>G
c.404A>G (p.Gln135Arg)
n.797A>G
n.597A>G
14g.93218620A>TCA390810958UBR7c.695A>T (p.Gln232Leu)
c.467A>T (p.Gln156Leu)
c.*396A>T (n.*396A>T)
c.378+3339A>T
c.404A>T (p.Gln135Leu)
n.797A>T
n.597A>T
14g.93218621A>CCA390810960UBR7c.696A>C (p.Gln232His)
c.468A>C (p.Gln156His)
c.*397A>C (n.*397A>C)
c.378+3340A>C
c.405A>C (p.Gln135His)
n.798A>C
n.598A>C
14g.93218621A>GCA487594092UBR7c.696A>G (p.Gln232=)
c.468A>G (p.Gln156=)
c.*397A>G (n.*397A>G)
c.378+3340A>G
c.405A>G (p.Gln135=)
n.798A>G
n.598A>G
 gnomAD v4
14g.93218621A>TCA390810961UBR7c.696A>T (p.Gln232His)
c.468A>T (p.Gln156His)
c.*397A>T (n.*397A>T)
c.378+3340A>T
c.405A>T (p.Gln135His)
n.798A>T
n.598A>T
14g.93218622G>ACA390810962UBR7c.697G>A (p.Asp233Asn)
c.469G>A (p.Asp157Asn)
c.*398G>A (n.*398G>A)
c.378+3341G>A
c.406G>A (p.Asp136Asn)
n.799G>A
n.599G>A
 gnomAD v4
14g.93218622G>CCA390810963UBR7c.697G>C (p.Asp233His)
c.469G>C (p.Asp157His)
c.*398G>C (n.*398G>C)
c.378+3341G>C
c.406G>C (p.Asp136His)
n.799G>C
n.599G>C
14g.93218622G>TCA390810964UBR7c.697G>T (p.Asp233Tyr)
c.469G>T (p.Asp157Tyr)
c.*398G>T (n.*398G>T)
c.378+3341G>T
c.406G>T (p.Asp136Tyr)
n.799G>T
n.599G>T
 gnomAD v4

Number of alleles fetched