Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153592504A>CCA415087155CCNQc.657+2T>G (n.657+2T>G)
c.193+2043T>G
c.277+3500T>G
c.478+2T>G
c.*533+2T>G (n.*533+2T>G)
c.627+2T>G (n.627+2T>G)
c.531+2T>G (n.531+2T>G)
n.2562+2T>G
Xg.153592504A>GCA415087156CCNQc.657+2T>C (n.657+2T>C)
c.193+2043T>C
c.277+3500T>C
c.478+2T>C
c.*533+2T>C (n.*533+2T>C)
c.627+2T>C (n.627+2T>C)
c.531+2T>C (n.531+2T>C)
n.2562+2T>C
Xg.153592504A>TCA415087158CCNQc.657+2T>A (n.657+2T>A)
c.193+2043T>A
c.277+3500T>A
c.478+2T>A
c.*533+2T>A (n.*533+2T>A)
c.627+2T>A (n.627+2T>A)
c.531+2T>A (n.531+2T>A)
n.2562+2T>A
Xg.153592505C>ACA415087161CCNQc.657+1G>T (n.657+1G>T)
c.193+2042G>T
c.277+3499G>T
c.478+1G>T
c.*533+1G>T (n.*533+1G>T)
c.627+1G>T (n.627+1G>T)
c.531+1G>T (n.531+1G>T)
n.2562+1G>T
Xg.153592505C=CA2466399714CCNQc.657+1G= (n.657+1G=)
c.193+2042G=
c.277+3499G=
c.478+1G=
c.*533+1G= (n.*533+1G=)
c.627+1G= (n.627+1G=)
c.531+1G= (n.531+1G=)
n.2562+1G=
Xg.153592505C>GCA415087162CCNQc.657+1G>C (n.657+1G>C)
c.193+2042G>C
c.277+3499G>C
c.478+1G>C
c.*533+1G>C (n.*533+1G>C)
c.627+1G>C (n.627+1G>C)
c.531+1G>C (n.531+1G>C)
n.2562+1G>C
Xg.153592505C>TCA415087164CCNQc.657+1G>A (n.657+1G>A)
c.193+2042G>A
c.277+3499G>A
c.478+1G>A
c.*533+1G>A (n.*533+1G>A)
c.627+1G>A (n.627+1G>A)
c.531+1G>A (n.531+1G>A)
n.2562+1G>A
ClinVar dbSNP
Xg.153592506C>ACA415087166CCNQc.657G>T (p.Gln219His)
c.193+2041G>T
c.277+3498G>T
c.478G>T
c.*533G>T (n.*533G>T)
c.627G>T (p.Gln209His)
c.531G>T (p.Gln177His)
n.2562G>T
Xg.153592506C>GCA415087168CCNQc.657G>C (p.Gln219His)
c.193+2041G>C
c.277+3498G>C
c.478G>C
c.*533G>C (n.*533G>C)
c.627G>C (p.Gln209His)
c.531G>C (p.Gln177His)
n.2562G>C
Xg.153592506C>TCA519213328CCNQc.657G>A (p.Gln219=)
c.193+2041G>A
c.277+3498G>A
c.478G>A
c.*533G>A (n.*533G>A)
c.627G>A (p.Gln209=)
c.531G>A (p.Gln177=)
n.2562G>A
COSMIC
Xg.153592507T>ACA415087174CCNQc.656A>T (p.Gln219Leu)
c.193+2040A>T
c.277+3497A>T
c.477A>T
c.*532A>T (n.*532A>T)
c.626A>T (p.Gln209Leu)
c.530A>T (p.Gln177Leu)
n.2561A>T
Xg.153592507T>CCA415087171CCNQc.656A>G (p.Gln219Arg)
c.193+2040A>G
c.277+3497A>G
c.477A>G
c.*532A>G (n.*532A>G)
c.626A>G (p.Gln209Arg)
c.530A>G (p.Gln177Arg)
n.2561A>G
gnomAD v3 gnomAD v4
Xg.153592507T>GCA10548372CCNQc.656A>C (p.Gln219Pro)
c.193+2040A>C
c.277+3497A>C
c.477A>C
c.*532A>C (n.*532A>C)
c.626A>C (p.Gln209Pro)
c.530A>C (p.Gln177Pro)
n.2561A>C
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592507T=CA2466399715CCNQc.656A= (p.Gln219=)
c.193+2040A=
c.277+3497A=
c.477A=
c.*532A= (n.*532A=)
c.626A= (p.Gln209=)
c.530A= (p.Gln177=)
n.2561A=
Xg.153592508G>ACA415087176CCNQc.655C>T (p.Gln219Ter)
c.193+2039C>T
c.277+3496C>T
c.476C>T
c.*531C>T (n.*531C>T)
c.625C>T (p.Gln209Ter)
c.529C>T (p.Gln177Ter)
n.2560C>T
ClinVar dbSNP
Xg.153592508G>CCA415087180CCNQc.655C>G (p.Gln219Glu)
c.193+2039C>G
c.277+3496C>G
c.476C>G
c.*531C>G (n.*531C>G)
c.625C>G (p.Gln209Glu)
c.529C>G (p.Gln177Glu)
n.2560C>G
Xg.153592508G=CA2466399716CCNQc.655C= (p.Gln219=)
c.193+2039C=
c.277+3496C=
c.476C=
c.*531C= (n.*531C=)
c.625C= (p.Gln209=)
c.529C= (p.Gln177=)
n.2560C=
Xg.153592508G>TCA415087178CCNQc.655C>A (p.Gln219Lys)
c.193+2039C>A
c.277+3496C>A
c.476C>A
c.*531C>A (n.*531C>A)
c.625C>A (p.Gln209Lys)
c.529C>A (p.Gln177Lys)
n.2560C>A
Xg.153592509C>ACA415087182CCNQc.654G>T (p.Trp218Cys)
c.193+2038G>T
c.277+3495G>T
c.475G>T
c.*530G>T (n.*530G>T)
c.624G>T (p.Trp208Cys)
c.528G>T (p.Trp176Cys)
n.2559G>T
gnomAD v4
Xg.153592509C>GCA415087186CCNQc.654G>C (p.Trp218Cys)
c.193+2038G>C
c.277+3495G>C
c.475G>C
c.*530G>C (n.*530G>C)
c.624G>C (p.Trp208Cys)
c.528G>C (p.Trp176Cys)
n.2559G>C
Xg.153592509C>TCA415087184CCNQc.654G>A (p.Trp218Ter)
c.193+2038G>A
c.277+3495G>A
c.475G>A
c.*530G>A (n.*530G>A)
c.624G>A (p.Trp208Ter)
c.528G>A (p.Trp176Ter)
n.2559G>A
Xg.153592510C>ACA415087189CCNQc.653G>T (p.Trp218Leu)
c.193+2037G>T
c.277+3494G>T
c.474G>T
c.*529G>T (n.*529G>T)
c.623G>T (p.Trp208Leu)
c.527G>T (p.Trp176Leu)
n.2558G>T
Xg.153592510C>GCA415087194CCNQc.653G>C (p.Trp218Ser)
c.193+2037G>C
c.277+3494G>C
c.474G>C
c.*529G>C (n.*529G>C)
c.623G>C (p.Trp208Ser)
c.527G>C (p.Trp176Ser)
n.2558G>C
Xg.153592510C>TCA415087191CCNQc.653G>A (p.Trp218Ter)
c.193+2037G>A
c.277+3494G>A
c.474G>A
c.*529G>A (n.*529G>A)
c.623G>A (p.Trp208Ter)
c.527G>A (p.Trp176Ter)
n.2558G>A
Xg.153592511A>CCA415087197CCNQc.652T>G (p.Trp218Gly)
c.193+2036T>G
c.277+3493T>G
c.473T>G
c.*528T>G (n.*528T>G)
c.622T>G (p.Trp208Gly)
c.526T>G (p.Trp176Gly)
n.2557T>G
Xg.153592511A>GCA415087200CCNQc.652T>C (p.Trp218Arg)
c.193+2036T>C
c.277+3493T>C
c.473T>C
c.*528T>C (n.*528T>C)
c.622T>C (p.Trp208Arg)
c.526T>C (p.Trp176Arg)
n.2557T>C
Xg.153592511A>TCA415087204CCNQc.652T>A (p.Trp218Arg)
c.193+2036T>A
c.277+3493T>A
c.473T>A
c.*528T>A (n.*528T>A)
c.622T>A (p.Trp208Arg)
c.526T>A (p.Trp176Arg)
n.2557T>A
Xg.153592512C>ACA415087207CCNQc.651G>T (p.Trp217Cys)
c.193+2035G>T
c.277+3492G>T
c.472G>T
c.*527G>T (n.*527G>T)
c.621G>T (p.Trp207Cys)
c.525G>T (p.Trp175Cys)
n.2556G>T
Xg.153592512C>GCA415087210CCNQc.651G>C (p.Trp217Cys)
c.193+2035G>C
c.277+3492G>C
c.472G>C
c.*527G>C (n.*527G>C)
c.621G>C (p.Trp207Cys)
c.525G>C (p.Trp175Cys)
n.2556G>C
Xg.153592512C>TCA415087211CCNQc.651G>A (p.Trp217Ter)
c.193+2035G>A
c.277+3492G>A
c.472G>A
c.*527G>A (n.*527G>A)
c.621G>A (p.Trp207Ter)
c.525G>A (p.Trp175Ter)
n.2556G>A
ClinVar dbSNP
Xg.153592513C>ACA415087212CCNQc.650G>T (p.Trp217Leu)
c.193+2034G>T
c.277+3491G>T
c.471G>T
c.*526G>T (n.*526G>T)
c.620G>T (p.Trp207Leu)
c.524G>T (p.Trp175Leu)
n.2555G>T
Xg.153592513C>GCA415087213CCNQc.650G>C (p.Trp217Ser)
c.193+2034G>C
c.277+3491G>C
c.471G>C
c.*526G>C (n.*526G>C)
c.620G>C (p.Trp207Ser)
c.524G>C (p.Trp175Ser)
n.2555G>C
gnomAD v4
Xg.153592513C>TCA415087215CCNQc.650G>A (p.Trp217Ter)
c.193+2034G>A
c.277+3491G>A
c.471G>A
c.*526G>A (n.*526G>A)
c.620G>A (p.Trp207Ter)
c.524G>A (p.Trp175Ter)
n.2555G>A
COSMIC
Xg.153592514A>CCA415087223CCNQc.649T>G (p.Trp217Gly)
c.193+2033T>G
c.277+3490T>G
c.470T>G
c.*525T>G (n.*525T>G)
c.619T>G (p.Trp207Gly)
c.523T>G (p.Trp175Gly)
n.2554T>G
Xg.153592514A>GCA415087219CCNQc.649T>C (p.Trp217Arg)
c.193+2033T>C
c.277+3490T>C
c.470T>C
c.*525T>C (n.*525T>C)
c.619T>C (p.Trp207Arg)
c.523T>C (p.Trp175Arg)
n.2554T>C
Xg.153592514A>TCA415087217CCNQc.649T>A (p.Trp217Arg)
c.193+2033T>A
c.277+3490T>A
c.470T>A
c.*525T>A (n.*525T>A)
c.619T>A (p.Trp207Arg)
c.523T>A (p.Trp175Arg)
n.2554T>A
Xg.153592515C>ACA519213365CCNQc.648G>T (p.Pro216=)
c.193+2032G>T
c.277+3489G>T
c.469G>T
c.*524G>T (n.*524G>T)
c.618G>T (p.Pro206=)
c.522G>T (p.Pro174=)
n.2553G>T
Xg.153592515C=CA2466399717CCNQc.648G= (p.Pro216=)
c.193+2032G=
c.277+3489G=
c.469G=
c.*524G= (n.*524G=)
c.618G= (p.Pro206=)
c.522G= (p.Pro174=)
n.2553G=
Xg.153592515C>GCA519213367CCNQc.648G>C (p.Pro216=)
c.193+2032G>C
c.277+3489G>C
c.469G>C
c.*524G>C (n.*524G>C)
c.618G>C (p.Pro206=)
c.522G>C (p.Pro174=)
n.2553G>C
Xg.153592515C>TCA10548373CCNQc.648G>A (p.Pro216=)
c.193+2032G>A
c.277+3489G>A
c.469G>A
c.*524G>A (n.*524G>A)
c.618G>A (p.Pro206=)
c.522G>A (p.Pro174=)
n.2553G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592516G>ACA10548374CCNQc.647C>T (p.Pro216Leu)
c.193+2031C>T
c.277+3488C>T
c.468C>T
c.*523C>T (n.*523C>T)
c.617C>T (p.Pro206Leu)
c.521C>T (p.Pro174Leu)
n.2552C>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592516G>CCA415087227CCNQc.647C>G (p.Pro216Arg)
c.193+2031C>G
c.277+3488C>G
c.468C>G
c.*523C>G (n.*523C>G)
c.617C>G (p.Pro206Arg)
c.521C>G (p.Pro174Arg)
n.2552C>G
Xg.153592516G=CA2466399718CCNQc.647C= (p.Pro216=)
c.193+2031C=
c.277+3488C=
c.468C=
c.*523C= (n.*523C=)
c.617C= (p.Pro206=)
c.521C= (p.Pro174=)
n.2552C=
Xg.153592516G>TCA415087230CCNQc.647C>A (p.Pro216Gln)
c.193+2031C>A
c.277+3488C>A
c.468C>A
c.*523C>A (n.*523C>A)
c.617C>A (p.Pro206Gln)
c.521C>A (p.Pro174Gln)
n.2552C>A
Xg.153592517G>ACA415087233CCNQc.646C>T (p.Pro216Ser)
c.193+2030C>T
c.277+3487C>T
c.467C>T
c.*522C>T (n.*522C>T)
c.616C>T (p.Pro206Ser)
c.520C>T (p.Pro174Ser)
n.2551C>T
Xg.153592517G>CCA415087237CCNQc.646C>G (p.Pro216Ala)
c.193+2030C>G
c.277+3487C>G
c.467C>G
c.*522C>G (n.*522C>G)
c.616C>G (p.Pro206Ala)
c.520C>G (p.Pro174Ala)
n.2551C>G
Xg.153592517G>TCA415087240CCNQc.646C>A (p.Pro216Thr)
c.193+2030C>A
c.277+3487C>A
c.467C>A
c.*522C>A (n.*522C>A)
c.616C>A (p.Pro206Thr)
c.520C>A (p.Pro174Thr)
n.2551C>A
Xg.153592518C>ACA415087244CCNQc.645G>T (p.Lys215Asn)
c.193+2029G>T
c.277+3486G>T
c.466G>T
c.*521G>T (n.*521G>T)
c.615G>T (p.Lys205Asn)
c.519G>T (p.Lys173Asn)
n.2550G>T
Xg.153592518C=CA2466399719CCNQc.645G= (p.Lys215=)
c.193+2029G=
c.277+3486G=
c.466G=
c.*521G= (n.*521G=)
c.615G= (p.Lys205=)
c.519G= (p.Lys173=)
n.2550G=
Xg.153592518C>GCA415087249CCNQc.645G>C (p.Lys215Asn)
c.193+2029G>C
c.277+3486G>C
c.466G>C
c.*521G>C (n.*521G>C)
c.615G>C (p.Lys205Asn)
c.519G>C (p.Lys173Asn)
n.2550G>C
Xg.153592518C>TCA519213383CCNQc.645G>A (p.Lys215=)
c.193+2029G>A
c.277+3486G>A
c.466G>A
c.*521G>A (n.*521G>A)
c.615G>A (p.Lys205=)
c.519G>A (p.Lys173=)
n.2550G>A
dbSNP gnomAD v2 gnomAD v4
Xg.153592519T>ACA415087254CCNQc.644A>T (p.Lys215Met)
c.193+2028A>T
c.277+3485A>T
c.465A>T
c.*520A>T (n.*520A>T)
c.614A>T (p.Lys205Met)
c.518A>T (p.Lys173Met)
n.2549A>T
Xg.153592519T>CCA415087253CCNQc.644A>G (p.Lys215Arg)
c.193+2028A>G
c.277+3485A>G
c.465A>G
c.*520A>G (n.*520A>G)
c.614A>G (p.Lys205Arg)
c.518A>G (p.Lys173Arg)
n.2549A>G
gnomAD v4
Xg.153592519T>GCA415087252CCNQc.644A>C (p.Lys215Thr)
c.193+2028A>C
c.277+3485A>C
c.465A>C
c.*520A>C (n.*520A>C)
c.614A>C (p.Lys205Thr)
c.518A>C (p.Lys173Thr)
n.2549A>C
Xg.153592520T>ACA415087256CCNQc.643A>T (p.Lys215Ter)
c.193+2027A>T
c.277+3484A>T
c.464A>T
c.*519A>T (n.*519A>T)
c.613A>T (p.Lys205Ter)
c.517A>T (p.Lys173Ter)
n.2548A>T
Xg.153592520T>CCA415087259CCNQc.643A>G (p.Lys215Glu)
c.193+2027A>G
c.277+3484A>G
c.464A>G
c.*519A>G (n.*519A>G)
c.613A>G (p.Lys205Glu)
c.517A>G (p.Lys173Glu)
n.2548A>G
gnomAD v4
Xg.153592520T>GCA415087261CCNQc.643A>C (p.Lys215Gln)
c.193+2027A>C
c.277+3484A>C
c.464A>C
c.*519A>C (n.*519A>C)
c.613A>C (p.Lys205Gln)
c.517A>C (p.Lys173Gln)
n.2548A>C
Xg.153592521C>ACA415087265CCNQc.642G>T (p.Glu214Asp)
c.193+2026G>T
c.277+3483G>T
c.463G>T
c.*518G>T (n.*518G>T)
c.612G>T (p.Glu204Asp)
c.516G>T (p.Glu172Asp)
n.2547G>T
Xg.153592521C>GCA415087268CCNQc.642G>C (p.Glu214Asp)
c.193+2026G>C
c.277+3483G>C
c.463G>C
c.*518G>C (n.*518G>C)
c.612G>C (p.Glu204Asp)
c.516G>C (p.Glu172Asp)
n.2547G>C
Xg.153592521C>TCA519213400CCNQc.642G>A (p.Glu214=)
c.193+2026G>A
c.277+3483G>A
c.463G>A
c.*518G>A (n.*518G>A)
c.612G>A (p.Glu204=)
c.516G>A (p.Glu172=)
n.2547G>A
gnomAD v4
Xg.153592522T>ACA415087272CCNQc.641A>T (p.Glu214Val)
c.193+2025A>T
c.277+3482A>T
c.462A>T
c.*517A>T (n.*517A>T)
c.611A>T (p.Glu204Val)
c.515A>T (p.Glu172Val)
n.2546A>T
Xg.153592522T>CCA415087274CCNQc.641A>G (p.Glu214Gly)
c.193+2025A>G
c.277+3482A>G
c.462A>G
c.*517A>G (n.*517A>G)
c.611A>G (p.Glu204Gly)
c.515A>G (p.Glu172Gly)
n.2546A>G
Xg.153592522T>GCA415087277CCNQc.641A>C (p.Glu214Ala)
c.193+2025A>C
c.277+3482A>C
c.462A>C
c.*517A>C (n.*517A>C)
c.611A>C (p.Glu204Ala)
c.515A>C (p.Glu172Ala)
n.2546A>C
Xg.153592523C>ACA415087280CCNQc.640G>T (p.Glu214Ter)
c.193+2024G>T
c.277+3481G>T
c.461G>T
c.*516G>T (n.*516G>T)
c.610G>T (p.Glu204Ter)
c.514G>T (p.Glu172Ter)
n.2545G>T
Xg.153592523C>GCA415087283CCNQc.640G>C (p.Glu214Gln)
c.193+2024G>C
c.277+3481G>C
c.461G>C
c.*516G>C (n.*516G>C)
c.610G>C (p.Glu204Gln)
c.514G>C (p.Glu172Gln)
n.2545G>C
Xg.153592523C>TCA415087284CCNQc.640G>A (p.Glu214Lys)
c.193+2024G>A
c.277+3481G>A
c.461G>A
c.*516G>A (n.*516G>A)
c.610G>A (p.Glu204Lys)
c.514G>A (p.Glu172Lys)
n.2545G>A
Xg.153592524A=CA2466399720CCNQc.639T= (p.Ala213=)
c.193+2023T=
c.277+3480T=
c.460T=
c.*515T= (n.*515T=)
c.609T= (p.Ala203=)
c.513T= (p.Ala171=)
n.2544T=
Xg.153592524A>CCA519213413CCNQc.639T>G (p.Ala213=)
c.193+2023T>G
c.277+3480T>G
c.460T>G
c.*515T>G (n.*515T>G)
c.609T>G (p.Ala203=)
c.513T>G (p.Ala171=)
n.2544T>G
Xg.153592524A>GCA10548375CCNQc.639T>C (p.Ala213=)
c.193+2023T>C
c.277+3480T>C
c.460T>C
c.*515T>C (n.*515T>C)
c.609T>C (p.Ala203=)
c.513T>C (p.Ala171=)
n.2544T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592524A>TCA519213414CCNQc.639T>A (p.Ala213=)
c.193+2023T>A
c.277+3480T>A
c.460T>A
c.*515T>A (n.*515T>A)
c.609T>A (p.Ala203=)
c.513T>A (p.Ala171=)
n.2544T>A
Xg.153592525G>ACA415087291CCNQc.638C>T (p.Ala213Val)
c.193+2022C>T
c.277+3479C>T
c.459C>T
c.*514C>T (n.*514C>T)
c.608C>T (p.Ala203Val)
c.512C>T (p.Ala171Val)
n.2543C>T
Xg.153592525G>CCA415087293CCNQc.638C>G (p.Ala213Gly)
c.193+2022C>G
c.277+3479C>G
c.459C>G
c.*514C>G (n.*514C>G)
c.608C>G (p.Ala203Gly)
c.512C>G (p.Ala171Gly)
n.2543C>G
gnomAD v4
Xg.153592525G>TCA415087296CCNQc.638C>A (p.Ala213Asp)
c.193+2022C>A
c.277+3479C>A
c.459C>A
c.*514C>A (n.*514C>A)
c.608C>A (p.Ala203Asp)
c.512C>A (p.Ala171Asp)
n.2543C>A
Xg.153592526C>ACA415087300CCNQc.637G>T (p.Ala213Ser)
c.193+2021G>T
c.277+3478G>T
c.458G>T
c.*513G>T (n.*513G>T)
c.607G>T (p.Ala203Ser)
c.511G>T (p.Ala171Ser)
n.2542G>T
Xg.153592526C>GCA415087301CCNQc.637G>C (p.Ala213Pro)
c.193+2021G>C
c.277+3478G>C
c.458G>C
c.*513G>C (n.*513G>C)
c.607G>C (p.Ala203Pro)
c.511G>C (p.Ala171Pro)
n.2542G>C
Xg.153592526C>TCA415087303CCNQc.637G>A (p.Ala213Thr)
c.193+2021G>A
c.277+3478G>A
c.458G>A
c.*513G>A (n.*513G>A)
c.607G>A (p.Ala203Thr)
c.511G>A (p.Ala171Thr)
n.2542G>A
Xg.153592527C>ACA415087306CCNQc.636G>T (p.Glu212Asp)
c.193+2020G>T
c.277+3477G>T
c.457G>T
c.*512G>T (n.*512G>T)
c.606G>T (p.Glu202Asp)
c.510G>T (p.Glu170Asp)
n.2541G>T
Xg.153592527C>GCA415087308CCNQc.636G>C (p.Glu212Asp)
c.193+2020G>C
c.277+3477G>C
c.457G>C
c.*512G>C (n.*512G>C)
c.606G>C (p.Glu202Asp)
c.510G>C (p.Glu170Asp)
n.2541G>C
Xg.153592527C>TCA519213425CCNQc.636G>A (p.Glu212=)
c.193+2020G>A
c.277+3477G>A
c.457G>A
c.*512G>A (n.*512G>A)
c.606G>A (p.Glu202=)
c.510G>A (p.Glu170=)
n.2541G>A
gnomAD v4
Xg.153592528T>ACA415087311CCNQc.635A>T (p.Glu212Val)
c.193+2019A>T
c.277+3476A>T
c.456A>T
c.*511A>T (n.*511A>T)
c.605A>T (p.Glu202Val)
c.509A>T (p.Glu170Val)
n.2540A>T
Xg.153592528T>CCA415087314CCNQc.635A>G (p.Glu212Gly)
c.193+2019A>G
c.277+3476A>G
c.456A>G
c.*511A>G (n.*511A>G)
c.605A>G (p.Glu202Gly)
c.509A>G (p.Glu170Gly)
n.2540A>G
Xg.153592528T>GCA415087316CCNQc.635A>C (p.Glu212Ala)
c.193+2019A>C
c.277+3476A>C
c.456A>C
c.*511A>C (n.*511A>C)
c.605A>C (p.Glu202Ala)
c.509A>C (p.Glu170Ala)
n.2540A>C
Xg.153592529C>ACA415087321CCNQc.634G>T (p.Glu212Ter)
c.193+2018G>T
c.277+3475G>T
c.455G>T
c.*510G>T (n.*510G>T)
c.604G>T (p.Glu202Ter)
c.508G>T (p.Glu170Ter)
n.2539G>T
COSMIC
Xg.153592529C=CA2466399721CCNQc.634G= (p.Glu212=)
c.193+2018G=
c.277+3475G=
c.455G=
c.*510G= (n.*510G=)
c.604G= (p.Glu202=)
c.508G= (p.Glu170=)
n.2539G=
Xg.153592529C>GCA415087323CCNQc.634G>C (p.Glu212Gln)
c.193+2018G>C
c.277+3475G>C
c.455G>C
c.*510G>C (n.*510G>C)
c.604G>C (p.Glu202Gln)
c.508G>C (p.Glu170Gln)
n.2539G>C
dbSNP gnomAD v4
Xg.153592529C>TCA337225224CCNQc.634G>A (p.Glu212Lys)
c.193+2018G>A
c.277+3475G>A
c.455G>A
c.*510G>A (n.*510G>A)
c.604G>A (p.Glu202Lys)
c.508G>A (p.Glu170Lys)
n.2539G>A
dbSNP gnomAD v4
Xg.153592530G>ACA10548376CCNQc.633C>T (p.Val211=)
c.193+2017C>T
c.277+3474C>T
c.454C>T
c.*509C>T (n.*509C>T)
c.603C>T (p.Val201=)
c.507C>T (p.Val169=)
n.2538C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592530G>CCA519213440CCNQc.633C>G (p.Val211=)
c.193+2017C>G
c.277+3474C>G
c.454C>G
c.*509C>G (n.*509C>G)
c.603C>G (p.Val201=)
c.507C>G (p.Val169=)
n.2538C>G
Xg.153592530G=CA2466399722CCNQc.633C= (p.Val211=)
c.193+2017C=
c.277+3474C=
c.454C=
c.*509C= (n.*509C=)
c.603C= (p.Val201=)
c.507C= (p.Val169=)
n.2538C=
Xg.153592530G>TCA519213442CCNQc.633C>A (p.Val211=)
c.193+2017C>A
c.277+3474C>A
c.454C>A
c.*509C>A (n.*509C>A)
c.603C>A (p.Val201=)
c.507C>A (p.Val169=)
n.2538C>A
COSMIC
Xg.153592530_153592531insGAGACA873269545CCNQc.632_633insTCTC (p.Glu212LeufsTer4)
c.193+2016_193+2017insTCTC
c.277+3473_277+3474insTCTC
c.453_454insTCTC
c.*508_*509insTCTC (n.*508_*509insTCTC)
c.602_603insTCTC (p.Glu202LeufsTer4)
c.506_507insTCTC (p.Glu170LeufsTer4)
n.2537_2538insTCTC
dbSNP gnomAD v3 gnomAD v4
Xg.153592531A>CCA415087328CCNQc.632T>G (p.Val211Gly)
c.193+2016T>G
c.277+3473T>G
c.453T>G
c.*508T>G (n.*508T>G)
c.602T>G (p.Val201Gly)
c.506T>G (p.Val169Gly)
n.2537T>G
Xg.153592531A>GCA415087331CCNQc.632T>C (p.Val211Ala)
c.193+2016T>C
c.277+3473T>C
c.453T>C
c.*508T>C (n.*508T>C)
c.602T>C (p.Val201Ala)
c.506T>C (p.Val169Ala)
n.2537T>C
Xg.153592531A>TCA415087334CCNQc.632T>A (p.Val211Asp)
c.193+2016T>A
c.277+3473T>A
c.453T>A
c.*508T>A (n.*508T>A)
c.602T>A (p.Val201Asp)
c.506T>A (p.Val169Asp)
n.2537T>A
Xg.153592531_153592535delinsACCTCCA2466399723CCNQc.628_632delinsGAGGT (p.Glu210=)
c.193+2012_193+2016delinsGAGGT
c.277+3469_277+3473delinsGAGGT
c.449_453delinsGAGGT
c.*504_*508delinsGAGGT (n.*504_*508delinsGAGGT)
c.598_602delinsGAGGT (p.Glu200=)
c.502_506delinsGAGGT (p.Glu168=)
n.2533_2537delinsGAGGT
Xg.153592532C>ACA415087336CCNQc.631G>T (p.Val211Phe)
c.193+2015G>T
c.277+3472G>T
c.452G>T
c.*507G>T (n.*507G>T)
c.601G>T (p.Val201Phe)
c.505G>T (p.Val169Phe)
n.2536G>T
Xg.153592532C>GCA415087342CCNQc.631G>C (p.Val211Leu)
c.193+2015G>C
c.277+3472G>C
c.452G>C
c.*507G>C (n.*507G>C)
c.601G>C (p.Val201Leu)
c.505G>C (p.Val169Leu)
n.2536G>C
Xg.153592532C>TCA415087343CCNQc.631G>A (p.Val211Ile)
c.193+2015G>A
c.277+3472G>A
c.452G>A
c.*507G>A (n.*507G>A)
c.601G>A (p.Val201Ile)
c.505G>A (p.Val169Ile)
n.2536G>A
gnomAD v4
Xg.153592532_153592535delCA873269551CCNQc.628_631del (p.Glu210SerfsTer?)
c.193+2012_193+2015del
c.277+3469_277+3472del
c.449_452del
c.*504_*507del (n.*504_*507del)
c.598_601del (p.Glu200SerfsTer?)
c.502_505del (p.Glu168SerfsTer?)
n.2533_2536del
dbSNP gnomAD v3 gnomAD v4
Xg.153592533C>ACA415087346CCNQc.630G>T (p.Glu210Asp)
c.193+2014G>T
c.277+3471G>T
c.451G>T
c.*506G>T (n.*506G>T)
c.600G>T (p.Glu200Asp)
c.504G>T (p.Glu168Asp)
n.2535G>T
Xg.153592533C=CA2466399724CCNQc.630G= (p.Glu210=)
c.193+2014G=
c.277+3471G=
c.451G=
c.*506G= (n.*506G=)
c.600G= (p.Glu200=)
c.504G= (p.Glu168=)
n.2535G=
Xg.153592533C>GCA415087348CCNQc.630G>C (p.Glu210Asp)
c.193+2014G>C
c.277+3471G>C
c.451G>C
c.*506G>C (n.*506G>C)
c.600G>C (p.Glu200Asp)
c.504G>C (p.Glu168Asp)
n.2535G>C
Xg.153592533C>TCA519213450CCNQc.630G>A (p.Glu210=)
c.193+2014G>A
c.277+3471G>A
c.451G>A
c.*506G>A (n.*506G>A)
c.600G>A (p.Glu200=)
c.504G>A (p.Glu168=)
n.2535G>A
dbSNP gnomAD v4
Xg.153592534T>ACA415087352CCNQc.629A>T (p.Glu210Val)
c.193+2013A>T
c.277+3470A>T
c.450A>T
c.*505A>T (n.*505A>T)
c.599A>T (p.Glu200Val)
c.503A>T (p.Glu168Val)
n.2534A>T
Xg.153592534T>CCA415087354CCNQc.629A>G (p.Glu210Gly)
c.193+2013A>G
c.277+3470A>G
c.450A>G
c.*505A>G (n.*505A>G)
c.599A>G (p.Glu200Gly)
c.503A>G (p.Glu168Gly)
n.2534A>G
Xg.153592534T>GCA415087357CCNQc.629A>C (p.Glu210Ala)
c.193+2013A>C
c.277+3470A>C
c.450A>C
c.*505A>C (n.*505A>C)
c.599A>C (p.Glu200Ala)
c.503A>C (p.Glu168Ala)
n.2534A>C
Xg.153592535C>ACA415087364CCNQc.628G>T (p.Glu210Ter)
c.193+2012G>T
c.277+3469G>T
c.449G>T
c.*504G>T (n.*504G>T)
c.598G>T (p.Glu200Ter)
c.502G>T (p.Glu168Ter)
n.2533G>T
Xg.153592535C=CA2466399725CCNQc.628G= (p.Glu210=)
c.193+2012G=
c.277+3469G=
c.449G=
c.*504G= (n.*504G=)
c.598G= (p.Glu200=)
c.502G= (p.Glu168=)
n.2533G=
Xg.153592535C>GCA415087362CCNQc.628G>C (p.Glu210Gln)
c.193+2012G>C
c.277+3469G>C
c.449G>C
c.*504G>C (n.*504G>C)
c.598G>C (p.Glu200Gln)
c.502G>C (p.Glu168Gln)
n.2533G>C
Xg.153592535C>TCA10548377CCNQc.628G>A (p.Glu210Lys)
c.193+2012G>A
c.277+3469G>A
c.449G>A
c.*504G>A (n.*504G>A)
c.598G>A (p.Glu200Lys)
c.502G>A (p.Glu168Lys)
n.2533G>A
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592536G>ACA10548378CCNQc.627C>T (p.Ala209=)
c.193+2011C>T
c.277+3468C>T
c.448C>T
c.*503C>T (n.*503C>T)
c.597C>T (p.Ala199=)
c.501C>T (p.Ala167=)
n.2532C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592536G>CCA519213469CCNQc.627C>G (p.Ala209=)
c.193+2011C>G
c.277+3468C>G
c.448C>G
c.*503C>G (n.*503C>G)
c.597C>G (p.Ala199=)
c.501C>G (p.Ala167=)
n.2532C>G
Xg.153592536G=CA2466399726CCNQc.627C= (p.Ala209=)
c.193+2011C=
c.277+3468C=
c.448C=
c.*503C= (n.*503C=)
c.597C= (p.Ala199=)
c.501C= (p.Ala167=)
n.2532C=
Xg.153592536G>TCA519213471CCNQc.627C>A (p.Ala209=)
c.193+2011C>A
c.277+3468C>A
c.448C>A
c.*503C>A (n.*503C>A)
c.597C>A (p.Ala199=)
c.501C>A (p.Ala167=)
n.2532C>A
dbSNP
Xg.153592537G>ACA415087367CCNQc.626C>T (p.Ala209Val)
c.193+2010C>T
c.277+3467C>T
c.447C>T
c.*502C>T (n.*502C>T)
c.596C>T (p.Ala199Val)
c.500C>T (p.Ala167Val)
n.2531C>T
Xg.153592537G>CCA415087370CCNQc.626C>G (p.Ala209Gly)
c.193+2010C>G
c.277+3467C>G
c.447C>G
c.*502C>G (n.*502C>G)
c.596C>G (p.Ala199Gly)
c.500C>G (p.Ala167Gly)
n.2531C>G
Xg.153592537G>TCA415087372CCNQc.626C>A (p.Ala209Asp)
c.193+2010C>A
c.277+3467C>A
c.447C>A
c.*502C>A (n.*502C>A)
c.596C>A (p.Ala199Asp)
c.500C>A (p.Ala167Asp)
n.2531C>A
Xg.153592538C>ACA415087375CCNQc.625G>T (p.Ala209Ser)
c.193+2009G>T
c.277+3466G>T
c.446G>T
c.*501G>T (n.*501G>T)
c.595G>T (p.Ala199Ser)
c.499G>T (p.Ala167Ser)
n.2530G>T
dbSNP gnomAD v2 gnomAD v4
Xg.153592538C=CA2466399727CCNQc.625G= (p.Ala209=)
c.193+2009G=
c.277+3466G=
c.446G=
c.*501G= (n.*501G=)
c.595G= (p.Ala199=)
c.499G= (p.Ala167=)
n.2530G=
Xg.153592538C>GCA415087377CCNQc.625G>C (p.Ala209Pro)
c.193+2009G>C
c.277+3466G>C
c.446G>C
c.*501G>C (n.*501G>C)
c.595G>C (p.Ala199Pro)
c.499G>C (p.Ala167Pro)
n.2530G>C
Xg.153592538C>TCA415087378CCNQc.625G>A (p.Ala209Thr)
c.193+2009G>A
c.277+3466G>A
c.446G>A
c.*501G>A (n.*501G>A)
c.595G>A (p.Ala199Thr)
c.499G>A (p.Ala167Thr)
n.2530G>A
dbSNP gnomAD v2 gnomAD v4
Xg.153592539G>ACA10548379CCNQc.624C>T (p.Pro208=)
c.193+2008C>T
c.277+3465C>T
c.445C>T
c.*500C>T (n.*500C>T)
c.594C>T (p.Pro198=)
c.498C>T (p.Pro166=)
n.2529C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592539G>CCA519213493CCNQc.624C>G (p.Pro208=)
c.193+2008C>G
c.277+3465C>G
c.445C>G
c.*500C>G (n.*500C>G)
c.594C>G (p.Pro198=)
c.498C>G (p.Pro166=)
n.2529C>G
Xg.153592539G=CA2466399728CCNQc.624C= (p.Pro208=)
c.193+2008C=
c.277+3465C=
c.445C=
c.*500C= (n.*500C=)
c.594C= (p.Pro198=)
c.498C= (p.Pro166=)
n.2529C=
Xg.153592539G>TCA519213495CCNQc.624C>A (p.Pro208=)
c.193+2008C>A
c.277+3465C>A
c.445C>A
c.*500C>A (n.*500C>A)
c.594C>A (p.Pro198=)
c.498C>A (p.Pro166=)
n.2529C>A
Xg.153592540G>ACA415087386CCNQc.623C>T (p.Pro208Leu)
c.193+2007C>T
c.277+3464C>T
c.444C>T
c.*499C>T (n.*499C>T)
c.593C>T (p.Pro198Leu)
c.497C>T (p.Pro166Leu)
n.2528C>T
Xg.153592540G>CCA415087388CCNQc.623C>G (p.Pro208Arg)
c.193+2007C>G
c.277+3464C>G
c.444C>G
c.*499C>G (n.*499C>G)
c.593C>G (p.Pro198Arg)
c.497C>G (p.Pro166Arg)
n.2528C>G
Xg.153592540G>TCA415087390CCNQc.623C>A (p.Pro208His)
c.193+2007C>A
c.277+3464C>A
c.444C>A
c.*499C>A (n.*499C>A)
c.593C>A (p.Pro198His)
c.497C>A (p.Pro166His)
n.2528C>A
Xg.153592541G>ACA415087399CCNQc.622C>T (p.Pro208Ser)
c.193+2006C>T
c.277+3463C>T
c.443C>T
c.*498C>T (n.*498C>T)
c.592C>T (p.Pro198Ser)
c.496C>T (p.Pro166Ser)
n.2527C>T
Xg.153592541G>CCA415087397CCNQc.622C>G (p.Pro208Ala)
c.193+2006C>G
c.277+3463C>G
c.443C>G
c.*498C>G (n.*498C>G)
c.592C>G (p.Pro198Ala)
c.496C>G (p.Pro166Ala)
n.2527C>G
Xg.153592541G>TCA415087392CCNQc.622C>A (p.Pro208Thr)
c.193+2006C>A
c.277+3463C>A
c.443C>A
c.*498C>A (n.*498C>A)
c.592C>A (p.Pro198Thr)
c.496C>A (p.Pro166Thr)
n.2527C>A
Xg.153592542C>ACA519213509CCNQc.621G>T (p.Val207=)
c.193+2005G>T
c.277+3462G>T
c.442G>T
c.*497G>T (n.*497G>T)
c.591G>T (p.Val197=)
c.495G>T (p.Val165=)
n.2526G>T
Xg.153592542C=CA2466399729CCNQc.621G= (p.Val207=)
c.193+2005G=
c.277+3462G=
c.442G=
c.*497G= (n.*497G=)
c.591G= (p.Val197=)
c.495G= (p.Val165=)
n.2526G=
Xg.153592542C>GCA519213512CCNQc.621G>C (p.Val207=)
c.193+2005G>C
c.277+3462G>C
c.442G>C
c.*497G>C (n.*497G>C)
c.591G>C (p.Val197=)
c.495G>C (p.Val165=)
n.2526G>C
gnomAD v4
Xg.153592542C>TCA519213513CCNQc.621G>A (p.Val207=)
c.193+2005G>A
c.277+3462G>A
c.442G>A
c.*497G>A (n.*497G>A)
c.591G>A (p.Val197=)
c.495G>A (p.Val165=)
n.2526G>A
dbSNP gnomAD v2 gnomAD v4
Xg.153592543A>CCA415087402CCNQc.620T>G (p.Val207Gly)
c.193+2004T>G
c.277+3461T>G
c.441T>G
c.*496T>G (n.*496T>G)
c.590T>G (p.Val197Gly)
c.494T>G (p.Val165Gly)
n.2525T>G
Xg.153592543A>GCA415087405CCNQc.620T>C (p.Val207Ala)
c.193+2004T>C
c.277+3461T>C
c.441T>C
c.*496T>C (n.*496T>C)
c.590T>C (p.Val197Ala)
c.494T>C (p.Val165Ala)
n.2525T>C
Xg.153592543A>TCA415087406CCNQc.620T>A (p.Val207Glu)
c.193+2004T>A
c.277+3461T>A
c.441T>A
c.*496T>A (n.*496T>A)
c.590T>A (p.Val197Glu)
c.494T>A (p.Val165Glu)
n.2525T>A
Xg.153592544C>ACA415087407CCNQc.619G>T (p.Val207Leu)
c.193+2003G>T
c.277+3460G>T
c.440G>T
c.*495G>T (n.*495G>T)
c.589G>T (p.Val197Leu)
c.493G>T (p.Val165Leu)
n.2524G>T
Xg.153592544C>GCA415087408CCNQc.619G>C (p.Val207Leu)
c.193+2003G>C
c.277+3460G>C
c.440G>C
c.*495G>C (n.*495G>C)
c.589G>C (p.Val197Leu)
c.493G>C (p.Val165Leu)
n.2524G>C
Xg.153592544C>TCA415087409CCNQc.619G>A (p.Val207Met)
c.193+2003G>A
c.277+3460G>A
c.440G>A
c.*495G>A (n.*495G>A)
c.589G>A (p.Val197Met)
c.493G>A (p.Val165Met)
n.2524G>A
Xg.153592545C>ACA415087411CCNQc.618G>T (p.Glu206Asp)
c.193+2002G>T
c.277+3459G>T
c.439G>T
c.*494G>T (n.*494G>T)
c.588G>T (p.Glu196Asp)
c.492G>T (p.Glu164Asp)
n.2523G>T
Xg.153592545C>GCA415087413CCNQc.618G>C (p.Glu206Asp)
c.193+2002G>C
c.277+3459G>C
c.439G>C
c.*494G>C (n.*494G>C)
c.588G>C (p.Glu196Asp)
c.492G>C (p.Glu164Asp)
n.2523G>C
Xg.153592545C>TCA519213528CCNQc.618G>A (p.Glu206=)
c.193+2002G>A
c.277+3459G>A
c.439G>A
c.*494G>A (n.*494G>A)
c.588G>A (p.Glu196=)
c.492G>A (p.Glu164=)
n.2523G>A
Xg.153592546T>ACA415087415CCNQc.617A>T (p.Glu206Val)
c.193+2001A>T
c.277+3458A>T
c.438A>T
c.*493A>T (n.*493A>T)
c.587A>T (p.Glu196Val)
c.491A>T (p.Glu164Val)
n.2522A>T
Xg.153592546T>CCA415087427CCNQc.617A>G (p.Glu206Gly)
c.193+2001A>G
c.277+3458A>G
c.438A>G
c.*493A>G (n.*493A>G)
c.587A>G (p.Glu196Gly)
c.491A>G (p.Glu164Gly)
n.2522A>G
Xg.153592546T>GCA415087430CCNQc.617A>C (p.Glu206Ala)
c.193+2001A>C
c.277+3458A>C
c.438A>C
c.*493A>C (n.*493A>C)
c.587A>C (p.Glu196Ala)
c.491A>C (p.Glu164Ala)
n.2522A>C
Xg.153592547C>ACA16609136CCNQc.616G>T (p.Glu206Ter)
c.193+2000G>T
c.277+3457G>T
c.437G>T
c.*492G>T (n.*492G>T)
c.586G>T (p.Glu196Ter)
c.490G>T (p.Glu164Ter)
n.2521G>T
ClinVar dbSNP
Xg.153592547C=CA2466399730CCNQc.616G= (p.Glu206=)
c.193+2000G=
c.277+3457G=
c.437G=
c.*492G= (n.*492G=)
c.586G= (p.Glu196=)
c.490G= (p.Glu164=)
n.2521G=
Xg.153592547C>GCA415087437CCNQc.616G>C (p.Glu206Gln)
c.193+2000G>C
c.277+3457G>C
c.437G>C
c.*492G>C (n.*492G>C)
c.586G>C (p.Glu196Gln)
c.490G>C (p.Glu164Gln)
n.2521G>C
Xg.153592547C>TCA415087433CCNQc.616G>A (p.Glu206Lys)
c.193+2000G>A
c.277+3457G>A
c.437G>A
c.*492G>A (n.*492G>A)
c.586G>A (p.Glu196Lys)
c.490G>A (p.Glu164Lys)
n.2521G>A
Xg.153592548A=CA2466399731CCNQc.615T= (p.Val205=)
c.193+1999T=
c.277+3456T=
c.436T=
c.*491T= (n.*491T=)
c.585T= (p.Val195=)
c.489T= (p.Val163=)
n.2520T=
Xg.153592548A>CCA519213546CCNQc.615T>G (p.Val205=)
c.193+1999T>G
c.277+3456T>G
c.436T>G
c.*491T>G (n.*491T>G)
c.585T>G (p.Val195=)
c.489T>G (p.Val163=)
n.2520T>G
Xg.153592548A>GCA519213547CCNQc.615T>C (p.Val205=)
c.193+1999T>C
c.277+3456T>C
c.436T>C
c.*491T>C (n.*491T>C)
c.585T>C (p.Val195=)
c.489T>C (p.Val163=)
n.2520T>C
Xg.153592548A>TCA519213548CCNQc.615T>A (p.Val205=)
c.193+1999T>A
c.277+3456T>A
c.436T>A
c.*491T>A (n.*491T>A)
c.585T>A (p.Val195=)
c.489T>A (p.Val163=)
n.2520T>A
dbSNP gnomAD v2 gnomAD v4
Xg.153592549A>CCA415087442CCNQc.614T>G (p.Val205Gly)
c.193+1998T>G
c.277+3455T>G
c.435T>G
c.*490T>G (n.*490T>G)
c.584T>G (p.Val195Gly)
c.488T>G (p.Val163Gly)
n.2519T>G
Xg.153592549A>GCA415087444CCNQc.614T>C (p.Val205Ala)
c.193+1998T>C
c.277+3455T>C
c.435T>C
c.*490T>C (n.*490T>C)
c.584T>C (p.Val195Ala)
c.488T>C (p.Val163Ala)
n.2519T>C
Xg.153592549A>TCA415087449CCNQc.614T>A (p.Val205Asp)
c.193+1998T>A
c.277+3455T>A
c.435T>A
c.*490T>A (n.*490T>A)
c.584T>A (p.Val195Asp)
c.488T>A (p.Val163Asp)
n.2519T>A
Xg.153592550C>ACA415087451CCNQc.613G>T (p.Val205Phe)
c.193+1997G>T
c.277+3454G>T
c.434G>T
c.*489G>T (n.*489G>T)
c.583G>T (p.Val195Phe)
c.487G>T (p.Val163Phe)
n.2518G>T
Xg.153592550C>GCA415087456CCNQc.613G>C (p.Val205Leu)
c.193+1997G>C
c.277+3454G>C
c.434G>C
c.*489G>C (n.*489G>C)
c.583G>C (p.Val195Leu)
c.487G>C (p.Val163Leu)
n.2518G>C
Xg.153592550C>TCA415087459CCNQc.613G>A (p.Val205Ile)
c.193+1997G>A
c.277+3454G>A
c.434G>A
c.*489G>A (n.*489G>A)
c.583G>A (p.Val195Ile)
c.487G>A (p.Val163Ile)
n.2518G>A
Xg.153592551T>ACA519213558CCNQc.612A>T (p.Gly204=)
c.193+1996A>T
c.277+3453A>T
c.433A>T
c.*488A>T (n.*488A>T)
c.582A>T (p.Gly194=)
c.486A>T (p.Gly162=)
n.2517A>T
Xg.153592551T>CCA519213560CCNQc.612A>G (p.Gly204=)
c.193+1996A>G
c.277+3453A>G
c.433A>G
c.*488A>G (n.*488A>G)
c.582A>G (p.Gly194=)
c.486A>G (p.Gly162=)
n.2517A>G
dbSNP gnomAD v3 gnomAD v4
Xg.153592551T>GCA519213562CCNQc.612A>C (p.Gly204=)
c.193+1996A>C
c.277+3453A>C
c.433A>C
c.*488A>C (n.*488A>C)
c.582A>C (p.Gly194=)
c.486A>C (p.Gly162=)
n.2517A>C
Xg.153592551T=CA2466399732CCNQc.612A= (p.Gly204=)
c.193+1996A=
c.277+3453A=
c.433A=
c.*488A= (n.*488A=)
c.582A= (p.Gly194=)
c.486A= (p.Gly162=)
n.2517A=
Xg.153592552C>ACA415087462CCNQc.611G>T (p.Gly204Val)
c.193+1995G>T
c.277+3452G>T
c.432G>T
c.*487G>T (n.*487G>T)
c.581G>T (p.Gly194Val)
c.485G>T (p.Gly162Val)
n.2516G>T
Xg.153592552C>GCA415087464CCNQc.611G>C (p.Gly204Ala)
c.193+1995G>C
c.277+3452G>C
c.432G>C
c.*487G>C (n.*487G>C)
c.581G>C (p.Gly194Ala)
c.485G>C (p.Gly162Ala)
n.2516G>C
Xg.153592552C>TCA415087466CCNQc.611G>A (p.Gly204Glu)
c.193+1995G>A
c.277+3452G>A
c.432G>A
c.*487G>A (n.*487G>A)
c.581G>A (p.Gly194Glu)
c.485G>A (p.Gly162Glu)
n.2516G>A
Xg.153592553C>ACA415087469CCNQc.610G>T (p.Gly204Ter)
c.193+1994G>T
c.277+3451G>T
c.431G>T
c.*486G>T (n.*486G>T)
c.580G>T (p.Gly194Ter)
c.484G>T (p.Gly162Ter)
n.2515G>T
Xg.153592553C>GCA415087471CCNQc.610G>C (p.Gly204Arg)
c.193+1994G>C
c.277+3451G>C
c.431G>C
c.*486G>C (n.*486G>C)
c.580G>C (p.Gly194Arg)
c.484G>C (p.Gly162Arg)
n.2515G>C
Xg.153592553C>TCA415087473CCNQc.610G>A (p.Gly204Arg)
c.193+1994G>A
c.277+3451G>A
c.431G>A
c.*486G>A (n.*486G>A)
c.580G>A (p.Gly194Arg)
c.484G>A (p.Gly162Arg)
n.2515G>A
gnomAD v4
Xg.153592554G>ACA10548380CCNQc.609C>T (p.Tyr203=)
c.193+1993C>T
c.277+3450C>T
c.430C>T
c.*485C>T (n.*485C>T)
c.579C>T (p.Tyr193=)
c.483C>T (p.Tyr161=)
n.2514C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592554G>CCA415087481CCNQc.609C>G (p.Tyr203Ter)
c.193+1993C>G
c.277+3450C>G
c.430C>G
c.*485C>G (n.*485C>G)
c.579C>G (p.Tyr193Ter)
c.483C>G (p.Tyr161Ter)
n.2514C>G
Xg.153592554G=CA2466399733CCNQc.609C= (p.Tyr203=)
c.193+1993C=
c.277+3450C=
c.430C=
c.*485C= (n.*485C=)
c.579C= (p.Tyr193=)
c.483C= (p.Tyr161=)
n.2514C=
Xg.153592554G>TCA415087475CCNQc.609C>A (p.Tyr203Ter)
c.193+1993C>A
c.277+3450C>A
c.430C>A
c.*485C>A (n.*485C>A)
c.579C>A (p.Tyr193Ter)
c.483C>A (p.Tyr161Ter)
n.2514C>A
Xg.153592555T>ACA415087487CCNQc.608A>T (p.Tyr203Phe)
c.193+1992A>T
c.277+3449A>T
c.429A>T
c.*484A>T (n.*484A>T)
c.578A>T (p.Tyr193Phe)
c.482A>T (p.Tyr161Phe)
n.2513A>T
Xg.153592555T>CCA415087484CCNQc.608A>G (p.Tyr203Cys)
c.193+1992A>G
c.277+3449A>G
c.429A>G
c.*484A>G (n.*484A>G)
c.578A>G (p.Tyr193Cys)
c.482A>G (p.Tyr161Cys)
n.2513A>G
Xg.153592555T>GCA415087485CCNQc.608A>C (p.Tyr203Ser)
c.193+1992A>C
c.277+3449A>C
c.429A>C
c.*484A>C (n.*484A>C)
c.578A>C (p.Tyr193Ser)
c.482A>C (p.Tyr161Ser)
n.2513A>C
Xg.153592556A>CCA415087489CCNQc.607T>G (p.Tyr203Asp)
c.193+1991T>G
c.277+3448T>G
c.428T>G
c.*483T>G (n.*483T>G)
c.577T>G (p.Tyr193Asp)
c.481T>G (p.Tyr161Asp)
n.2512T>G
Xg.153592556A>GCA415087491CCNQc.607T>C (p.Tyr203His)
c.193+1991T>C
c.277+3448T>C
c.428T>C
c.*483T>C (n.*483T>C)
c.577T>C (p.Tyr193His)
c.481T>C (p.Tyr161His)
n.2512T>C
Xg.153592556A>TCA415087493CCNQc.607T>A (p.Tyr203Asn)
c.193+1991T>A
c.277+3448T>A
c.428T>A
c.*483T>A (n.*483T>A)
c.577T>A (p.Tyr193Asn)
c.481T>A (p.Tyr161Asn)
n.2512T>A
Xg.153592557delCA2602661417CCNQc.606del (p.Tyr203ThrfsTer?)
c.193+1990del
c.277+3447del
c.427del
c.*482del (n.*482del)
c.576del (p.Tyr193ThrfsTer?)
c.480del (p.Tyr161ThrfsTer?)
n.2511del
gnomAD v3 gnomAD v4
Xg.153592557G>ACA519213597CCNQc.606C>T (p.Val202=)
c.193+1990C>T
c.277+3447C>T
c.427C>T
c.*482C>T (n.*482C>T)
c.576C>T (p.Val192=)
c.480C>T (p.Val160=)
n.2511C>T
Xg.153592557G>CCA519213599CCNQc.606C>G (p.Val202=)
c.193+1990C>G
c.277+3447C>G
c.427C>G
c.*482C>G (n.*482C>G)
c.576C>G (p.Val192=)
c.480C>G (p.Val160=)
n.2511C>G
gnomAD v4
Xg.153592557G>TCA519213601CCNQc.606C>A (p.Val202=)
c.193+1990C>A
c.277+3447C>A
c.427C>A
c.*482C>A (n.*482C>A)
c.576C>A (p.Val192=)
c.480C>A (p.Val160=)
n.2511C>A
Xg.153592558A=CA2466399734CCNQc.605T= (p.Val202=)
c.193+1989T=
c.277+3446T=
c.426T=
c.*481T= (n.*481T=)
c.575T= (p.Val192=)
c.479T= (p.Val160=)
n.2510T=
Xg.153592558A>CCA415087496CCNQc.605T>G (p.Val202Gly)
c.193+1989T>G
c.277+3446T>G
c.426T>G
c.*481T>G (n.*481T>G)
c.575T>G (p.Val192Gly)
c.479T>G (p.Val160Gly)
n.2510T>G
Xg.153592558A>GCA415087498CCNQc.605T>C (p.Val202Ala)
c.193+1989T>C
c.277+3446T>C
c.426T>C
c.*481T>C (n.*481T>C)
c.575T>C (p.Val192Ala)
c.479T>C (p.Val160Ala)
n.2510T>C
dbSNP gnomAD v2 gnomAD v4
Xg.153592558A>TCA415087500CCNQc.605T>A (p.Val202Asp)
c.193+1989T>A
c.277+3446T>A
c.426T>A
c.*481T>A (n.*481T>A)
c.575T>A (p.Val192Asp)
c.479T>A (p.Val160Asp)
n.2510T>A
Xg.153592559C>ACA10548381CCNQc.604G>T (p.Val202Phe)
c.193+1988G>T
c.277+3445G>T
c.425G>T
c.*480G>T (n.*480G>T)
c.574G>T (p.Val192Phe)
c.478G>T (p.Val160Phe)
n.2509G>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592559C=CA2466399735CCNQc.604G= (p.Val202=)
c.193+1988G=
c.277+3445G=
c.425G=
c.*480G= (n.*480G=)
c.574G= (p.Val192=)
c.478G= (p.Val160=)
n.2509G=
Xg.153592559C>GCA415087503CCNQc.604G>C (p.Val202Leu)
c.193+1988G>C
c.277+3445G>C
c.425G>C
c.*480G>C (n.*480G>C)
c.574G>C (p.Val192Leu)
c.478G>C (p.Val160Leu)
n.2509G>C
Xg.153592559C>TCA415087504CCNQc.604G>A (p.Val202Ile)
c.193+1988G>A
c.277+3445G>A
c.425G>A
c.*480G>A (n.*480G>A)
c.574G>A (p.Val192Ile)
c.478G>A (p.Val160Ile)
n.2509G>A
Xg.153592560C>ACA415087506CCNQc.603G>T (p.Gln201His)
c.193+1987G>T
c.277+3444G>T
c.424G>T
c.*479G>T (n.*479G>T)
c.573G>T (p.Gln191His)
c.477G>T (p.Gln159His)
n.2508G>T
Xg.153592560C>GCA415087507CCNQc.603G>C (p.Gln201His)
c.193+1987G>C
c.277+3444G>C
c.424G>C
c.*479G>C (n.*479G>C)
c.573G>C (p.Gln191His)
c.477G>C (p.Gln159His)
n.2508G>C
Xg.153592560C>TCA519213610CCNQc.603G>A (p.Gln201=)
c.193+1987G>A
c.277+3444G>A
c.424G>A
c.*479G>A (n.*479G>A)
c.573G>A (p.Gln191=)
c.477G>A (p.Gln159=)
n.2508G>A
gnomAD v4
Xg.153592561T>ACA415087513CCNQc.602A>T (p.Gln201Leu)
c.193+1986A>T
c.277+3443A>T
c.423A>T
c.*478A>T (n.*478A>T)
c.572A>T (p.Gln191Leu)
c.476A>T (p.Gln159Leu)
n.2507A>T
Xg.153592561T>CCA415087508CCNQc.602A>G (p.Gln201Arg)
c.193+1986A>G
c.277+3443A>G
c.423A>G
c.*478A>G (n.*478A>G)
c.572A>G (p.Gln191Arg)
c.476A>G (p.Gln159Arg)
n.2507A>G
gnomAD v4
Xg.153592561T>GCA415087510CCNQc.602A>C (p.Gln201Pro)
c.193+1986A>C
c.277+3443A>C
c.423A>C
c.*478A>C (n.*478A>C)
c.572A>C (p.Gln191Pro)
c.476A>C (p.Gln159Pro)
n.2507A>C
Xg.153592562G>ACA415087516CCNQc.601C>T (p.Gln201Ter)
c.193+1985C>T
c.277+3442C>T
c.422C>T
c.*477C>T (n.*477C>T)
c.571C>T (p.Gln191Ter)
c.475C>T (p.Gln159Ter)
n.2506C>T
COSMIC
Xg.153592562G>CCA415087519CCNQc.601C>G (p.Gln201Glu)
c.193+1985C>G
c.277+3442C>G
c.422C>G
c.*477C>G (n.*477C>G)
c.571C>G (p.Gln191Glu)
c.475C>G (p.Gln159Glu)
n.2506C>G
gnomAD v4
Xg.153592562G>TCA415087522CCNQc.601C>A (p.Gln201Lys)
c.193+1985C>A
c.277+3442C>A
c.422C>A
c.*477C>A (n.*477C>A)
c.571C>A (p.Gln191Lys)
c.475C>A (p.Gln159Lys)
n.2506C>A
Xg.153592563C>ACA519213626CCNQc.600G>T (p.Leu200=)
c.193+1984G>T
c.277+3441G>T
c.421G>T
c.*476G>T (n.*476G>T)
c.570G>T (p.Leu190=)
c.474G>T (p.Leu158=)
n.2505G>T
Xg.153592563C>GCA519213627CCNQc.600G>C (p.Leu200=)
c.193+1984G>C
c.277+3441G>C
c.421G>C
c.*476G>C (n.*476G>C)
c.570G>C (p.Leu190=)
c.474G>C (p.Leu158=)
n.2505G>C
Xg.153592563C>TCA519213628CCNQc.600G>A (p.Leu200=)
c.193+1984G>A
c.277+3441G>A
c.421G>A
c.*476G>A (n.*476G>A)
c.570G>A (p.Leu190=)
c.474G>A (p.Leu158=)
n.2505G>A
Xg.153592564A>CCA415087526CCNQc.599T>G (p.Leu200Arg)
c.193+1983T>G
c.277+3440T>G
c.420T>G
c.*475T>G (n.*475T>G)
c.569T>G (p.Leu190Arg)
c.473T>G (p.Leu158Arg)
n.2504T>G
Xg.153592564A>GCA415087528CCNQc.599T>C (p.Leu200Pro)
c.193+1983T>C
c.277+3440T>C
c.420T>C
c.*475T>C (n.*475T>C)
c.569T>C (p.Leu190Pro)
c.473T>C (p.Leu158Pro)
n.2504T>C
Xg.153592564A>TCA415087531CCNQc.599T>A (p.Leu200Gln)
c.193+1983T>A
c.277+3440T>A
c.420T>A
c.*475T>A (n.*475T>A)
c.569T>A (p.Leu190Gln)
c.473T>A (p.Leu158Gln)
n.2504T>A
Xg.153592565G>ACA10548382CCNQc.598C>T (p.Leu200=)
c.193+1982C>T
c.277+3439C>T
c.419C>T
c.*474C>T (n.*474C>T)
c.568C>T (p.Leu190=)
c.472C>T (p.Leu158=)
n.2503C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592565G>CCA415087535CCNQc.598C>G (p.Leu200Val)
c.193+1982C>G
c.277+3439C>G
c.419C>G
c.*474C>G (n.*474C>G)
c.568C>G (p.Leu190Val)
c.472C>G (p.Leu158Val)
n.2503C>G
COSMIC
Xg.153592565G=CA2466399736CCNQc.598C= (p.Leu200=)
c.193+1982C=
c.277+3439C=
c.419C=
c.*474C= (n.*474C=)
c.568C= (p.Leu190=)
c.472C= (p.Leu158=)
n.2503C=
Xg.153592565G>TCA415087538CCNQc.598C>A (p.Leu200Met)
c.193+1982C>A
c.277+3439C>A
c.419C>A
c.*474C>A (n.*474C>A)
c.568C>A (p.Leu190Met)
c.472C>A (p.Leu158Met)
n.2503C>A
Xg.153592566G>ACA519213640CCNQc.597C>T (p.Ala199=)
c.193+1981C>T
c.277+3438C>T
c.418C>T
c.*473C>T (n.*473C>T)
c.567C>T (p.Ala189=)
c.471C>T (p.Ala157=)
n.2502C>T
gnomAD v4
Xg.153592566G>CCA519213645CCNQc.597C>G (p.Ala199=)
c.193+1981C>G
c.277+3438C>G
c.418C>G
c.*473C>G (n.*473C>G)
c.567C>G (p.Ala189=)
c.471C>G (p.Ala157=)
n.2502C>G
Xg.153592566G>TCA519213642CCNQc.597C>A (p.Ala199=)
c.193+1981C>A
c.277+3438C>A
c.418C>A
c.*473C>A (n.*473C>A)
c.567C>A (p.Ala189=)
c.471C>A (p.Ala157=)
n.2502C>A
Xg.153592567G>ACA415087541CCNQc.596C>T (p.Ala199Val)
c.193+1980C>T
c.277+3437C>T
c.417C>T
c.*472C>T (n.*472C>T)
c.566C>T (p.Ala189Val)
c.470C>T (p.Ala157Val)
n.2501C>T
Xg.153592567G>CCA415087544CCNQc.596C>G (p.Ala199Gly)
c.193+1980C>G
c.277+3437C>G
c.417C>G
c.*472C>G (n.*472C>G)
c.566C>G (p.Ala189Gly)
c.470C>G (p.Ala157Gly)
n.2501C>G
Xg.153592567G>TCA415087547CCNQc.596C>A (p.Ala199Asp)
c.193+1980C>A
c.277+3437C>A
c.417C>A
c.*472C>A (n.*472C>A)
c.566C>A (p.Ala189Asp)
c.470C>A (p.Ala157Asp)
n.2501C>A
Xg.153592568C>ACA415087550CCNQc.595G>T (p.Ala199Ser)
c.193+1979G>T
c.277+3436G>T
c.416G>T
c.*471G>T (n.*471G>T)
c.565G>T (p.Ala189Ser)
c.469G>T (p.Ala157Ser)
n.2500G>T
Xg.153592568C>GCA415087553CCNQc.595G>C (p.Ala199Pro)
c.193+1979G>C
c.277+3436G>C
c.416G>C
c.*471G>C (n.*471G>C)
c.565G>C (p.Ala189Pro)
c.469G>C (p.Ala157Pro)
n.2500G>C
Xg.153592568C>TCA415087551CCNQc.595G>A (p.Ala199Thr)
c.193+1979G>A
c.277+3436G>A
c.416G>A
c.*471G>A (n.*471G>A)
c.565G>A (p.Ala189Thr)
c.469G>A (p.Ala157Thr)
n.2500G>A
Xg.153592569C>ACA519213660CCNQc.594G>T (p.Leu198=)
c.193+1978G>T
c.277+3435G>T
c.415G>T
c.*470G>T (n.*470G>T)
c.564G>T (p.Leu188=)
c.468G>T (p.Leu156=)
n.2499G>T
Xg.153592569C>GCA519213661CCNQc.594G>C (p.Leu198=)
c.193+1978G>C
c.277+3435G>C
c.415G>C
c.*470G>C (n.*470G>C)
c.564G>C (p.Leu188=)
c.468G>C (p.Leu156=)
n.2499G>C
Xg.153592569C>TCA519213662CCNQc.594G>A (p.Leu198=)
c.193+1978G>A
c.277+3435G>A
c.415G>A
c.*470G>A (n.*470G>A)
c.564G>A (p.Leu188=)
c.468G>A (p.Leu156=)
n.2499G>A
gnomAD v4
Xg.153592570A>CCA415087556CCNQc.593T>G (p.Leu198Arg)
c.193+1977T>G
c.277+3434T>G
c.414T>G
c.*469T>G (n.*469T>G)
c.563T>G (p.Leu188Arg)
c.467T>G (p.Leu156Arg)
n.2498T>G
Xg.153592570A>GCA415087559CCNQc.593T>C (p.Leu198Pro)
c.193+1977T>C
c.277+3434T>C
c.414T>C
c.*469T>C (n.*469T>C)
c.563T>C (p.Leu188Pro)
c.467T>C (p.Leu156Pro)
n.2498T>C
Xg.153592570A>TCA415087562CCNQc.593T>A (p.Leu198Gln)
c.193+1977T>A
c.277+3434T>A
c.414T>A
c.*469T>A (n.*469T>A)
c.563T>A (p.Leu188Gln)
c.467T>A (p.Leu156Gln)
n.2498T>A
Xg.153592571G>ACA519213667CCNQc.592C>T (p.Leu198=)
c.193+1976C>T
c.277+3433C>T
c.413C>T
c.*468C>T (n.*468C>T)
c.562C>T (p.Leu188=)
c.466C>T (p.Leu156=)
n.2497C>T
Xg.153592571G>CCA415087565CCNQc.592C>G (p.Leu198Val)
c.193+1976C>G
c.277+3433C>G
c.413C>G
c.*468C>G (n.*468C>G)
c.562C>G (p.Leu188Val)
c.466C>G (p.Leu156Val)
n.2497C>G
Xg.153592571G>TCA415087567CCNQc.592C>A (p.Leu198Met)
c.193+1976C>A
c.277+3433C>A
c.413C>A
c.*468C>A (n.*468C>A)
c.562C>A (p.Leu188Met)
c.466C>A (p.Leu156Met)
n.2497C>A
Xg.153592572G>ACA519213671CCNQc.591C>T (p.Tyr197=)
c.193+1975C>T
c.277+3432C>T
c.412C>T
c.*467C>T (n.*467C>T)
c.561C>T (p.Tyr187=)
c.465C>T (p.Tyr155=)
n.2496C>T
Xg.153592572G>CCA415087569CCNQc.591C>G (p.Tyr197Ter)
c.193+1975C>G
c.277+3432C>G
c.412C>G
c.*467C>G (n.*467C>G)
c.561C>G (p.Tyr187Ter)
c.465C>G (p.Tyr155Ter)
n.2496C>G
Xg.153592572G>TCA415087571CCNQc.591C>A (p.Tyr197Ter)
c.193+1975C>A
c.277+3432C>A
c.412C>A
c.*467C>A (n.*467C>A)
c.561C>A (p.Tyr187Ter)
c.465C>A (p.Tyr155Ter)
n.2496C>A
Xg.153592573T>ACA415087576CCNQc.590A>T (p.Tyr197Phe)
c.193+1974A>T
c.277+3431A>T
c.411A>T
c.*466A>T (n.*466A>T)
c.560A>T (p.Tyr187Phe)
c.464A>T (p.Tyr155Phe)
n.2495A>T
Xg.153592573T>CCA415087578CCNQc.590A>G (p.Tyr197Cys)
c.193+1974A>G
c.277+3431A>G
c.411A>G
c.*466A>G (n.*466A>G)
c.560A>G (p.Tyr187Cys)
c.464A>G (p.Tyr155Cys)
n.2495A>G
dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.153592573T>GCA415087580CCNQc.590A>C (p.Tyr197Ser)
c.193+1974A>C
c.277+3431A>C
c.411A>C
c.*466A>C (n.*466A>C)
c.560A>C (p.Tyr187Ser)
c.464A>C (p.Tyr155Ser)
n.2495A>C
dbSNP gnomAD v3 gnomAD v4
Xg.153592573T=CA2466399737CCNQc.590A= (p.Tyr197=)
c.193+1974A=
c.277+3431A=
c.411A=
c.*466A= (n.*466A=)
c.560A= (p.Tyr187=)
c.464A= (p.Tyr155=)
n.2495A=
Xg.153592574A>CCA415087599CCNQc.589T>G (p.Tyr197Asp)
c.193+1973T>G
c.277+3430T>G
c.410T>G
c.*465T>G (n.*465T>G)
c.559T>G (p.Tyr187Asp)
c.463T>G (p.Tyr155Asp)
n.2494T>G
Xg.153592574A>GCA415087586CCNQc.589T>C (p.Tyr197His)
c.193+1973T>C
c.277+3430T>C
c.410T>C
c.*465T>C (n.*465T>C)
c.559T>C (p.Tyr187His)
c.463T>C (p.Tyr155His)
n.2494T>C
Xg.153592574A>TCA415087583CCNQc.589T>A (p.Tyr197Asn)
c.193+1973T>A
c.277+3430T>A
c.410T>A
c.*465T>A (n.*465T>A)
c.559T>A (p.Tyr187Asn)
c.463T>A (p.Tyr155Asn)
n.2494T>A
Xg.153592575G>ACA519213693CCNQc.588C>T (p.Leu196=)
c.193+1972C>T
c.277+3429C>T
c.409C>T
c.*464C>T (n.*464C>T)
c.*753C>T (n.*753C>T)
c.558C>T (p.Leu186=)
c.462C>T (p.Leu154=)
n.2493C>T
Xg.153592575G>CCA519213684CCNQc.588C>G (p.Leu196=)
c.193+1972C>G
c.277+3429C>G
c.409C>G
c.*464C>G (n.*464C>G)
c.*753C>G (n.*753C>G)
c.558C>G (p.Leu186=)
c.462C>G (p.Leu154=)
n.2493C>G
dbSNP gnomAD v4
Xg.153592575G=CA2466399738CCNQc.588C= (p.Leu196=)
c.193+1972C=
c.277+3429C=
c.409C=
c.*464C= (n.*464C=)
c.*753C= (n.*753C=)
c.558C= (p.Leu186=)
c.462C= (p.Leu154=)
n.2493C=
Xg.153592575G>TCA519213690CCNQc.588C>A (p.Leu196=)
c.193+1972C>A
c.277+3429C>A
c.409C>A
c.*464C>A (n.*464C>A)
c.*753C>A (n.*753C>A)
c.558C>A (p.Leu186=)
c.462C>A (p.Leu154=)
n.2493C>A
Xg.153592576A>CCA415087603CCNQc.587T>G (p.Leu196Arg)
c.193+1971T>G
c.277+3428T>G
c.408T>G
c.*463T>G (n.*463T>G)
c.*752T>G (n.*752T>G)
c.557T>G (p.Leu186Arg)
c.461T>G (p.Leu154Arg)
n.2492T>G
Xg.153592576A>GCA415087605CCNQc.587T>C (p.Leu196Pro)
c.193+1971T>C
c.277+3428T>C
c.408T>C
c.*463T>C (n.*463T>C)
c.*752T>C (n.*752T>C)
c.557T>C (p.Leu186Pro)
c.461T>C (p.Leu154Pro)
n.2492T>C
Xg.153592576A>TCA415087606CCNQc.587T>A (p.Leu196His)
c.193+1971T>A
c.277+3428T>A
c.408T>A
c.*463T>A (n.*463T>A)
c.*752T>A (n.*752T>A)
c.557T>A (p.Leu186His)
c.461T>A (p.Leu154His)
n.2492T>A
Xg.153592577G>ACA415087607CCNQc.586C>T (p.Leu196Phe)
c.193+1970C>T
c.277+3427C>T
c.407C>T
c.*462C>T (n.*462C>T)
c.*751C>T (n.*751C>T)
c.556C>T (p.Leu186Phe)
c.460C>T (p.Leu154Phe)
n.2491C>T
Xg.153592577G>CCA415087609CCNQc.586C>G (p.Leu196Val)
c.193+1970C>G
c.277+3427C>G
c.407C>G
c.*462C>G (n.*462C>G)
c.*751C>G (n.*751C>G)
c.556C>G (p.Leu186Val)
c.460C>G (p.Leu154Val)
n.2491C>G
Xg.153592577G>TCA415087618CCNQc.586C>A (p.Leu196Ile)
c.193+1970C>A
c.277+3427C>A
c.407C>A
c.*462C>A (n.*462C>A)
c.*751C>A (n.*751C>A)
c.556C>A (p.Leu186Ile)
c.460C>A (p.Leu154Ile)
n.2491C>A
Xg.153592578C>ACA519213706CCNQc.585G>T (p.Val195=)
c.193+1969G>T
c.277+3426G>T
c.406G>T
c.*461G>T (n.*461G>T)
c.*750G>T (n.*750G>T)
c.555G>T (p.Val185=)
c.459G>T (p.Val153=)
n.2490G>T
gnomAD v4
Xg.153592578C>GCA519213707CCNQc.585G>C (p.Val195=)
c.193+1969G>C
c.277+3426G>C
c.406G>C
c.*461G>C (n.*461G>C)
c.*750G>C (n.*750G>C)
c.555G>C (p.Val185=)
c.459G>C (p.Val153=)
n.2490G>C
Xg.153592578C>TCA519213711CCNQc.585G>A (p.Val195=)
c.193+1969G>A
c.277+3426G>A
c.406G>A
c.*461G>A (n.*461G>A)
c.*750G>A (n.*750G>A)
c.555G>A (p.Val185=)
c.459G>A (p.Val153=)
n.2490G>A
Xg.153592579A>CCA415087622CCNQc.584T>G (p.Val195Gly)
c.193+1968T>G
c.277+3425T>G
c.405T>G
c.*460T>G (n.*460T>G)
c.*749T>G (n.*749T>G)
c.554T>G (p.Val185Gly)
c.458T>G (p.Val153Gly)
n.2489T>G
Xg.153592579A>GCA415087624CCNQc.584T>C (p.Val195Ala)
c.193+1968T>C
c.277+3425T>C
c.405T>C
c.*460T>C (n.*460T>C)
c.*749T>C (n.*749T>C)
c.554T>C (p.Val185Ala)
c.458T>C (p.Val153Ala)
n.2489T>C
Xg.153592579A>TCA415087628CCNQc.584T>A (p.Val195Glu)
c.193+1968T>A
c.277+3425T>A
c.405T>A
c.*460T>A (n.*460T>A)
c.*749T>A (n.*749T>A)
c.554T>A (p.Val185Glu)
c.458T>A (p.Val153Glu)
n.2489T>A
Xg.153592580C>ACA415087632CCNQc.583G>T (p.Val195Leu)
c.193+1967G>T
c.277+3424G>T
c.404G>T
c.*459G>T (n.*459G>T)
c.*748G>T (n.*748G>T)
c.553G>T (p.Val185Leu)
c.457G>T (p.Val153Leu)
n.2488G>T
Xg.153592580C=CA2466399739CCNQc.583G= (p.Val195=)
c.193+1967G=
c.277+3424G=
c.404G=
c.*459G= (n.*459G=)
c.*748G= (n.*748G=)
c.553G= (p.Val185=)
c.457G= (p.Val153=)
n.2488G=
Xg.153592580C>GCA415087634CCNQc.583G>C (p.Val195Leu)
c.193+1967G>C
c.277+3424G>C
c.404G>C
c.*459G>C (n.*459G>C)
c.*748G>C (n.*748G>C)
c.553G>C (p.Val185Leu)
c.457G>C (p.Val153Leu)
n.2488G>C
Xg.153592580C>TCA10548383CCNQc.583G>A (p.Val195Met)
c.193+1967G>A
c.277+3424G>A
c.404G>A
c.*459G>A (n.*459G>A)
c.*748G>A (n.*748G>A)
c.553G>A (p.Val185Met)
c.457G>A (p.Val153Met)
n.2488G>A
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592581C>ACA519213722CCNQc.582G>T (p.Ala194=)
c.193+1966G>T
c.277+3423G>T
c.403G>T
c.*458G>T (n.*458G>T)
c.*747G>T (n.*747G>T)
c.552G>T (p.Ala184=)
c.456G>T (p.Ala152=)
n.2487G>T
Xg.153592581C=CA2466399740CCNQc.582G= (p.Ala194=)
c.193+1966G=
c.277+3423G=
c.403G=
c.*458G= (n.*458G=)
c.*747G= (n.*747G=)
c.552G= (p.Ala184=)
c.456G= (p.Ala152=)
n.2487G=
Xg.153592581C>GCA519213721CCNQc.582G>C (p.Ala194=)
c.193+1966G>C
c.277+3423G>C
c.403G>C
c.*458G>C (n.*458G>C)
c.*747G>C (n.*747G>C)
c.552G>C (p.Ala184=)
c.456G>C (p.Ala152=)
n.2487G>C
Xg.153592581C>TCA10548384CCNQc.582G>A (p.Ala194=)
c.193+1966G>A
c.277+3423G>A
c.403G>A
c.*458G>A (n.*458G>A)
c.*747G>A (n.*747G>A)
c.552G>A (p.Ala184=)
c.456G>A (p.Ala152=)
n.2487G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592582G>ACA415087644CCNQc.581C>T (p.Ala194Val)
c.193+1965C>T
c.277+3422C>T
c.402C>T
c.*457C>T (n.*457C>T)
c.*746C>T (n.*746C>T)
c.551C>T (p.Ala184Val)
c.455C>T (p.Ala152Val)
n.2486C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592582G>CCA415087640CCNQc.581C>G (p.Ala194Gly)
c.193+1965C>G
c.277+3422C>G
c.402C>G
c.*457C>G (n.*457C>G)
c.*746C>G (n.*746C>G)
c.551C>G (p.Ala184Gly)
c.455C>G (p.Ala152Gly)
n.2486C>G
Xg.153592582G=CA2466399741CCNQc.581C= (p.Ala194=)
c.193+1965C=
c.277+3422C=
c.402C=
c.*457C= (n.*457C=)
c.*746C= (n.*746C=)
c.551C= (p.Ala184=)
c.455C= (p.Ala152=)
n.2486C=
Xg.153592582G>TCA415087642CCNQc.581C>A (p.Ala194Glu)
c.193+1965C>A
c.277+3422C>A
c.402C>A
c.*457C>A (n.*457C>A)
c.*746C>A (n.*746C>A)
c.551C>A (p.Ala184Glu)
c.455C>A (p.Ala152Glu)
n.2486C>A
Xg.153592583C>ACA415087647CCNQc.580G>T (p.Ala194Ser)
c.193+1964G>T
c.277+3421G>T
c.401G>T
c.*456G>T (n.*456G>T)
c.*745G>T (n.*745G>T)
c.550G>T (p.Ala184Ser)
c.454G>T (p.Ala152Ser)
n.2485G>T
Xg.153592583C>GCA415087650CCNQc.580G>C (p.Ala194Pro)
c.193+1964G>C
c.277+3421G>C
c.401G>C
c.*456G>C (n.*456G>C)
c.*745G>C (n.*745G>C)
c.550G>C (p.Ala184Pro)
c.454G>C (p.Ala152Pro)
n.2485G>C
Xg.153592583C>TCA415087653CCNQc.580G>A (p.Ala194Thr)
c.193+1964G>A
c.277+3421G>A
c.401G>A
c.*456G>A (n.*456G>A)
c.*745G>A (n.*745G>A)
c.550G>A (p.Ala184Thr)
c.454G>A (p.Ala152Thr)
n.2485G>A
Xg.153592584C>ACA519213735CCNQc.579G>T (p.Val193=)
c.193+1963G>T
c.277+3420G>T
c.400G>T
c.*455G>T (n.*455G>T)
c.*744G>T (n.*744G>T)
c.549G>T (p.Val183=)
c.453G>T (p.Val151=)
n.2484G>T
Xg.153592584C=CA2466399742CCNQc.579G= (p.Val193=)
c.193+1963G=
c.277+3420G=
c.400G=
c.*455G= (n.*455G=)
c.*744G= (n.*744G=)
c.549G= (p.Val183=)
c.453G= (p.Val151=)
n.2484G=
Xg.153592584C>GCA519213737CCNQc.579G>C (p.Val193=)
c.193+1963G>C
c.277+3420G>C
c.400G>C
c.*455G>C (n.*455G>C)
c.*744G>C (n.*744G>C)
c.549G>C (p.Val183=)
c.453G>C (p.Val151=)
n.2484G>C
Xg.153592584C>TCA519213739CCNQc.579G>A (p.Val193=)
c.193+1963G>A
c.277+3420G>A
c.400G>A
c.*455G>A (n.*455G>A)
c.*744G>A (n.*744G>A)
c.549G>A (p.Val183=)
c.453G>A (p.Val151=)
n.2484G>A
dbSNP
Xg.153592585A>CCA415087656CCNQc.578T>G (p.Val193Gly)
c.193+1962T>G
c.277+3419T>G
c.399T>G
c.*454T>G (n.*454T>G)
c.*743T>G (n.*743T>G)
c.548T>G (p.Val183Gly)
c.452T>G (p.Val151Gly)
n.2483T>G
Xg.153592585A>GCA415087659CCNQc.578T>C (p.Val193Ala)
c.193+1962T>C
c.277+3419T>C
c.399T>C
c.*454T>C (n.*454T>C)
c.*743T>C (n.*743T>C)
c.548T>C (p.Val183Ala)
c.452T>C (p.Val151Ala)
n.2483T>C
Xg.153592585A>TCA415087661CCNQc.578T>A (p.Val193Glu)
c.193+1962T>A
c.277+3419T>A
c.399T>A
c.*454T>A (n.*454T>A)
c.*743T>A (n.*743T>A)
c.548T>A (p.Val183Glu)
c.452T>A (p.Val151Glu)
n.2483T>A
Xg.153592586C>ACA415087663CCNQc.577G>T (p.Val193Leu)
c.193+1961G>T
c.277+3418G>T
c.398G>T
c.*453G>T (n.*453G>T)
c.*742G>T (n.*742G>T)
c.547G>T (p.Val183Leu)
c.451G>T (p.Val151Leu)
n.2482G>T
dbSNP gnomAD v2 gnomAD v4
Xg.153592586C=CA2466399743CCNQc.577G= (p.Val193=)
c.193+1961G=
c.277+3418G=
c.398G=
c.*453G= (n.*453G=)
c.*742G= (n.*742G=)
c.547G= (p.Val183=)
c.451G= (p.Val151=)
n.2482G=
Xg.153592586C>GCA415087666CCNQc.577G>C (p.Val193Leu)
c.193+1961G>C
c.277+3418G>C
c.398G>C
c.*453G>C (n.*453G>C)
c.*742G>C (n.*742G>C)
c.547G>C (p.Val183Leu)
c.451G>C (p.Val151Leu)
n.2482G>C
Xg.153592586C>TCA415087668CCNQc.577G>A (p.Val193Met)
c.193+1961G>A
c.277+3418G>A
c.398G>A
c.*453G>A (n.*453G>A)
c.*742G>A (n.*742G>A)
c.547G>A (p.Val183Met)
c.451G>A (p.Val151Met)
n.2482G>A
dbSNP gnomAD v2 gnomAD v4
Xg.153592587G>ACA337225267CCNQc.576C>T (p.Ala192=)
c.193+1960C>T
c.277+3417C>T
c.397C>T
c.*452C>T (n.*452C>T)
c.*741C>T (n.*741C>T)
c.546C>T (p.Ala182=)
c.450C>T (p.Ala150=)
n.2481C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592587G>CCA519213750CCNQc.576C>G (p.Ala192=)
c.193+1960C>G
c.277+3417C>G
c.397C>G
c.*452C>G (n.*452C>G)
c.*741C>G (n.*741C>G)
c.546C>G (p.Ala182=)
c.450C>G (p.Ala150=)
n.2481C>G
Xg.153592587G=CA2466399744CCNQc.576C= (p.Ala192=)
c.193+1960C=
c.277+3417C=
c.397C=
c.*452C= (n.*452C=)
c.*741C= (n.*741C=)
c.546C= (p.Ala182=)
c.450C= (p.Ala150=)
n.2481C=
Xg.153592587G>TCA519213753CCNQc.576C>A (p.Ala192=)
c.193+1960C>A
c.277+3417C>A
c.397C>A
c.*452C>A (n.*452C>A)
c.*741C>A (n.*741C>A)
c.546C>A (p.Ala182=)
c.450C>A (p.Ala150=)
n.2481C>A
Xg.153592588G>ACA415087679CCNQc.575C>T (p.Ala192Val)
c.193+1959C>T
c.277+3416C>T
c.396C>T
c.*451C>T (n.*451C>T)
c.*740C>T (n.*740C>T)
c.545C>T (p.Ala182Val)
c.449C>T (p.Ala150Val)
n.2480C>T
Xg.153592588G>CCA415087676CCNQc.575C>G (p.Ala192Gly)
c.193+1959C>G
c.277+3416C>G
c.396C>G
c.*451C>G (n.*451C>G)
c.*740C>G (n.*740C>G)
c.545C>G (p.Ala182Gly)
c.449C>G (p.Ala150Gly)
n.2480C>G
Xg.153592588G>TCA415087675CCNQc.575C>A (p.Ala192Asp)
c.193+1959C>A
c.277+3416C>A
c.396C>A
c.*451C>A (n.*451C>A)
c.*740C>A (n.*740C>A)
c.545C>A (p.Ala182Asp)
c.449C>A (p.Ala150Asp)
n.2480C>A
Xg.153592589C>ACA415087683CCNQc.574G>T (p.Ala192Ser)
c.193+1958G>T
c.277+3415G>T
c.395G>T
c.*450G>T (n.*450G>T)
c.*739G>T (n.*739G>T)
c.544G>T (p.Ala182Ser)
c.448G>T (p.Ala150Ser)
n.2479G>T
dbSNP
Xg.153592589C=CA2466399745CCNQc.574G= (p.Ala192=)
c.193+1958G=
c.277+3415G=
c.395G=
c.*450G= (n.*450G=)
c.*739G= (n.*739G=)
c.544G= (p.Ala182=)
c.448G= (p.Ala150=)
n.2479G=
Xg.153592589C>GCA415087686CCNQc.574G>C (p.Ala192Pro)
c.193+1958G>C
c.277+3415G>C
c.395G>C
c.*450G>C (n.*450G>C)
c.*739G>C (n.*739G>C)
c.544G>C (p.Ala182Pro)
c.448G>C (p.Ala150Pro)
n.2479G>C
Xg.153592589C>TCA415087689CCNQc.574G>A (p.Ala192Thr)
c.193+1958G>A
c.277+3415G>A
c.395G>A
c.*450G>A (n.*450G>A)
c.*739G>A (n.*739G>A)
c.544G>A (p.Ala182Thr)
c.448G>A (p.Ala150Thr)
n.2479G>A
dbSNP gnomAD v3 gnomAD v4
Xg.153592589_153592590delinsCGCA2466399746CCNQc.573_574delinsCG (p.Ile191=)
c.193+1957_193+1958delinsCG
c.277+3414_277+3415delinsCG
c.394_395delinsCG
c.*449_*450delinsCG (n.*449_*450delinsCG)
c.*738_*739delinsCG (n.*738_*739delinsCG)
c.543_544delinsCG (p.Ile181=)
c.447_448delinsCG (p.Ile149=)
n.2478_2479delinsCG
Xg.153592590delCA920449877CCNQc.573del (p.Ile191MetfsTer?)
c.193+1957del
c.277+3414del
c.394del
c.*449del (n.*449del)
c.*738del (n.*738del)
c.543del (p.Ile181MetfsTer?)
c.447del (p.Ile149MetfsTer?)
n.2478del
dbSNP
Xg.153592590G>ACA10548385CCNQc.573C>T (p.Ile191=)
c.193+1957C>T
c.277+3414C>T
c.394C>T
c.*449C>T (n.*449C>T)
c.*738C>T (n.*738C>T)
c.543C>T (p.Ile181=)
c.447C>T (p.Ile149=)
n.2478C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592590G>CCA415087693CCNQc.573C>G (p.Ile191Met)
c.193+1957C>G
c.277+3414C>G
c.394C>G
c.*449C>G (n.*449C>G)
c.*738C>G (n.*738C>G)
c.543C>G (p.Ile181Met)
c.447C>G (p.Ile149Met)
n.2478C>G
Xg.153592590G=CA2466399747CCNQc.573C= (p.Ile191=)
c.193+1957C=
c.277+3414C=
c.394C=
c.*449C= (n.*449C=)
c.*738C= (n.*738C=)
c.543C= (p.Ile181=)
c.447C= (p.Ile149=)
n.2478C=
Xg.153592590G>TCA519213783CCNQc.573C>A (p.Ile191=)
c.193+1957C>A
c.277+3414C>A
c.394C>A
c.*449C>A (n.*449C>A)
c.*738C>A (n.*738C>A)
c.543C>A (p.Ile181=)
c.447C>A (p.Ile149=)
n.2478C>A
Xg.153592591A>CCA415087696CCNQc.572T>G (p.Ile191Ser)
c.193+1956T>G
c.277+3413T>G
c.393T>G
c.*448T>G (n.*448T>G)
c.*737T>G (n.*737T>G)
c.542T>G (p.Ile181Ser)
c.446T>G (p.Ile149Ser)
n.2477T>G
Xg.153592591A>GCA415087698CCNQc.572T>C (p.Ile191Thr)
c.193+1956T>C
c.277+3413T>C
c.393T>C
c.*448T>C (n.*448T>C)
c.*737T>C (n.*737T>C)
c.542T>C (p.Ile181Thr)
c.446T>C (p.Ile149Thr)
n.2477T>C
Xg.153592591A>TCA415087700CCNQc.572T>A (p.Ile191Asn)
c.193+1956T>A
c.277+3413T>A
c.393T>A
c.*448T>A (n.*448T>A)
c.*737T>A (n.*737T>A)
c.542T>A (p.Ile181Asn)
c.446T>A (p.Ile149Asn)
n.2477T>A
Xg.153592592T>ACA415087706CCNQc.571A>T (p.Ile191Phe)
c.193+1955A>T
c.277+3412A>T
c.392A>T
c.*447A>T (n.*447A>T)
c.*736A>T (n.*736A>T)
c.541A>T (p.Ile181Phe)
c.445A>T (p.Ile149Phe)
n.2476A>T
Xg.153592592T>CCA415087707CCNQc.571A>G (p.Ile191Val)
c.193+1955A>G
c.277+3412A>G
c.392A>G
c.*447A>G (n.*447A>G)
c.*736A>G (n.*736A>G)
c.541A>G (p.Ile181Val)
c.445A>G (p.Ile149Val)
n.2476A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592592T>GCA415087710CCNQc.571A>C (p.Ile191Leu)
c.193+1955A>C
c.277+3412A>C
c.392A>C
c.*447A>C (n.*447A>C)
c.*736A>C (n.*736A>C)
c.541A>C (p.Ile181Leu)
c.445A>C (p.Ile149Leu)
n.2476A>C
Xg.153592592T=CA2466399748CCNQc.571A= (p.Ile191=)
c.193+1955A=
c.277+3412A=
c.392A=
c.*447A= (n.*447A=)
c.*736A= (n.*736A=)
c.541A= (p.Ile181=)
c.445A= (p.Ile149=)
n.2476A=
Xg.153592593G>ACA519213795CCNQc.570C>T (p.His190=)
c.193+1954C>T
c.277+3411C>T
c.391C>T
c.*446C>T (n.*446C>T)
c.*735C>T (n.*735C>T)
c.540C>T (p.His180=)
c.444C>T (p.His148=)
n.2475C>T
dbSNP
Xg.153592593G>CCA415087714CCNQc.570C>G (p.His190Gln)
c.193+1954C>G
c.277+3411C>G
c.391C>G
c.*446C>G (n.*446C>G)
c.*735C>G (n.*735C>G)
c.540C>G (p.His180Gln)
c.444C>G (p.His148Gln)
n.2475C>G
Xg.153592593G=CA2466399749CCNQc.570C= (p.His190=)
c.193+1954C=
c.277+3411C=
c.391C=
c.*446C= (n.*446C=)
c.*735C= (n.*735C=)
c.540C= (p.His180=)
c.444C= (p.His148=)
n.2475C=
Xg.153592593G>TCA415087716CCNQc.570C>A (p.His190Gln)
c.193+1954C>A
c.277+3411C>A
c.391C>A
c.*446C>A (n.*446C>A)
c.*735C>A (n.*735C>A)
c.540C>A (p.His180Gln)
c.444C>A (p.His148Gln)
n.2475C>A
Xg.153592594T>ACA415087723CCNQc.569A>T (p.His190Leu)
c.193+1953A>T
c.277+3410A>T
c.390A>T
c.*445A>T (n.*445A>T)
c.*734A>T (n.*734A>T)
c.539A>T (p.His180Leu)
c.443A>T (p.His148Leu)
n.2474A>T
Xg.153592594T>CCA415087726CCNQc.569A>G (p.His190Arg)
c.193+1953A>G
c.277+3410A>G
c.390A>G
c.*445A>G (n.*445A>G)
c.*734A>G (n.*734A>G)
c.539A>G (p.His180Arg)
c.443A>G (p.His148Arg)
n.2474A>G
Xg.153592594T>GCA415087721CCNQc.569A>C (p.His190Pro)
c.193+1953A>C
c.277+3410A>C
c.390A>C
c.*445A>C (n.*445A>C)
c.*734A>C (n.*734A>C)
c.539A>C (p.His180Pro)
c.443A>C (p.His148Pro)
n.2474A>C
Xg.153592595G>ACA415087737CCNQc.568C>T (p.His190Tyr)
c.193+1952C>T
c.277+3409C>T
c.389C>T
c.*444C>T (n.*444C>T)
c.*733C>T (n.*733C>T)
c.538C>T (p.His180Tyr)
c.442C>T (p.His148Tyr)
n.2473C>T
Xg.153592595G>CCA415087740CCNQc.568C>G (p.His190Asp)
c.193+1952C>G
c.277+3409C>G
c.389C>G
c.*444C>G (n.*444C>G)
c.*733C>G (n.*733C>G)
c.538C>G (p.His180Asp)
c.442C>G (p.His148Asp)
n.2473C>G
Xg.153592595G>TCA415087741CCNQc.568C>A (p.His190Asn)
c.193+1952C>A
c.277+3409C>A
c.389C>A
c.*444C>A (n.*444C>A)
c.*733C>A (n.*733C>A)
c.538C>A (p.His180Asn)
c.442C>A (p.His148Asn)
n.2473C>A
Xg.153592596C>ACA415087745CCNQc.567G>T (p.Gln189His)
c.193+1951G>T
c.277+3408G>T
c.388G>T
c.*443G>T (n.*443G>T)
c.*732G>T (n.*732G>T)
c.537G>T (p.Gln179His)
c.441G>T (p.Gln147His)
n.2472G>T
Xg.153592596C>GCA415087748CCNQc.567G>C (p.Gln189His)
c.193+1951G>C
c.277+3408G>C
c.388G>C
c.*443G>C (n.*443G>C)
c.*732G>C (n.*732G>C)
c.537G>C (p.Gln179His)
c.441G>C (p.Gln147His)
n.2472G>C
Xg.153592596C>TCA519213825CCNQc.567G>A (p.Gln189=)
c.193+1951G>A
c.277+3408G>A
c.388G>A
c.*443G>A (n.*443G>A)
c.*732G>A (n.*732G>A)
c.537G>A (p.Gln179=)
c.441G>A (p.Gln147=)
n.2472G>A
Xg.153592597T>ACA415087752CCNQc.566A>T (p.Gln189Leu)
c.193+1950A>T
c.277+3407A>T
c.387A>T
c.*442A>T (n.*442A>T)
c.*731A>T (n.*731A>T)
c.536A>T (p.Gln179Leu)
c.440A>T (p.Gln147Leu)
n.2471A>T
Xg.153592597T>CCA415087754CCNQc.566A>G (p.Gln189Arg)
c.193+1950A>G
c.277+3407A>G
c.387A>G
c.*442A>G (n.*442A>G)
c.*731A>G (n.*731A>G)
c.536A>G (p.Gln179Arg)
c.440A>G (p.Gln147Arg)
n.2471A>G
gnomAD v4
Xg.153592597T>GCA415087762CCNQc.566A>C (p.Gln189Pro)
c.193+1950A>C
c.277+3407A>C
c.387A>C
c.*442A>C (n.*442A>C)
c.*731A>C (n.*731A>C)
c.536A>C (p.Gln179Pro)
c.440A>C (p.Gln147Pro)
n.2471A>C
Xg.153592598G>ACA415087765CCNQc.565C>T (p.Gln189Ter)
c.193+1949C>T
c.277+3406C>T
c.386C>T
c.*441C>T (n.*441C>T)
c.*730C>T (n.*730C>T)
c.535C>T (p.Gln179Ter)
c.439C>T (p.Gln147Ter)
n.2470C>T
Xg.153592598G>CCA415087776CCNQc.565C>G (p.Gln189Glu)
c.193+1949C>G
c.277+3406C>G
c.386C>G
c.*441C>G (n.*441C>G)
c.*730C>G (n.*730C>G)
c.535C>G (p.Gln179Glu)
c.439C>G (p.Gln147Glu)
n.2470C>G
Xg.153592598G>TCA415087778CCNQc.565C>A (p.Gln189Lys)
c.193+1949C>A
c.277+3406C>A
c.386C>A
c.*441C>A (n.*441C>A)
c.*730C>A (n.*730C>A)
c.535C>A (p.Gln179Lys)
c.439C>A (p.Gln147Lys)
n.2470C>A
Xg.153592599G>ACA519213841CCNQc.564C>T (p.Ala188=)
c.193+1948C>T
c.277+3405C>T
c.385C>T
c.*440C>T (n.*440C>T)
c.*729C>T (n.*729C>T)
c.534C>T (p.Ala178=)
c.438C>T (p.Ala146=)
n.2469C>T
Xg.153592599G>CCA519213843CCNQc.564C>G (p.Ala188=)
c.193+1948C>G
c.277+3405C>G
c.385C>G
c.*440C>G (n.*440C>G)
c.*729C>G (n.*729C>G)
c.534C>G (p.Ala178=)
c.438C>G (p.Ala146=)
n.2469C>G
Xg.153592599G>TCA519213845CCNQc.564C>A (p.Ala188=)
c.193+1948C>A
c.277+3405C>A
c.385C>A
c.*440C>A (n.*440C>A)
c.*729C>A (n.*729C>A)
c.534C>A (p.Ala178=)
c.438C>A (p.Ala146=)
n.2469C>A
Xg.153592600G>ACA415087786CCNQc.563C>T (p.Ala188Val)
c.193+1947C>T
c.277+3404C>T
c.384C>T
c.*439C>T (n.*439C>T)
c.*728C>T (n.*728C>T)
c.533C>T (p.Ala178Val)
c.437C>T (p.Ala146Val)
n.2468C>T
Xg.153592600G>CCA415087781CCNQc.563C>G (p.Ala188Gly)
c.193+1947C>G
c.277+3404C>G
c.384C>G
c.*439C>G (n.*439C>G)
c.*728C>G (n.*728C>G)
c.533C>G (p.Ala178Gly)
c.437C>G (p.Ala146Gly)
n.2468C>G
Xg.153592600G>TCA415087784CCNQc.563C>A (p.Ala188Asp)
c.193+1947C>A
c.277+3404C>A
c.384C>A
c.*439C>A (n.*439C>A)
c.*728C>A (n.*728C>A)
c.533C>A (p.Ala178Asp)
c.437C>A (p.Ala146Asp)
n.2468C>A
Xg.153592601C>ACA415087788CCNQc.562G>T (p.Ala188Ser)
c.193+1946G>T
c.277+3403G>T
c.383G>T
c.*438G>T (n.*438G>T)
c.*727G>T (n.*727G>T)
c.532G>T (p.Ala178Ser)
c.436G>T (p.Ala146Ser)
n.2467G>T
Xg.153592601C>GCA415087790CCNQc.562G>C (p.Ala188Pro)
c.193+1946G>C
c.277+3403G>C
c.383G>C
c.*438G>C (n.*438G>C)
c.*727G>C (n.*727G>C)
c.532G>C (p.Ala178Pro)
c.436G>C (p.Ala146Pro)
n.2467G>C
COSMIC
Xg.153592601C>TCA415087792CCNQc.562G>A (p.Ala188Thr)
c.193+1946G>A
c.277+3403G>A
c.383G>A
c.*438G>A (n.*438G>A)
c.*727G>A (n.*727G>A)
c.532G>A (p.Ala178Thr)
c.436G>A (p.Ala146Thr)
n.2467G>A
Xg.153592602C>ACA415087796CCNQc.561G>T (p.Gln187His)
c.193+1945G>T
c.277+3402G>T
c.382G>T
c.*437G>T (n.*437G>T)
c.*726G>T (n.*726G>T)
c.531G>T (p.Gln177His)
c.435G>T (p.Gln145His)
n.2466G>T
Xg.153592602C>GCA415087798CCNQc.561G>C (p.Gln187His)
c.193+1945G>C
c.277+3402G>C
c.382G>C
c.*437G>C (n.*437G>C)
c.*726G>C (n.*726G>C)
c.531G>C (p.Gln177His)
c.435G>C (p.Gln145His)
n.2466G>C
Xg.153592602C>TCA519213861CCNQc.561G>A (p.Gln187=)
c.193+1945G>A
c.277+3402G>A
c.382G>A
c.*437G>A (n.*437G>A)
c.*726G>A (n.*726G>A)
c.531G>A (p.Gln177=)
c.435G>A (p.Gln145=)
n.2466G>A
Xg.153592603T>ACA415087801CCNQc.560A>T (p.Gln187Leu)
c.193+1944A>T
c.277+3401A>T
c.381A>T
c.*436A>T (n.*436A>T)
c.*725A>T (n.*725A>T)
c.530A>T (p.Gln177Leu)
c.434A>T (p.Gln145Leu)
n.2465A>T
Xg.153592603T>CCA415087802CCNQc.560A>G (p.Gln187Arg)
c.193+1944A>G
c.277+3401A>G
c.381A>G
c.*436A>G (n.*436A>G)
c.*725A>G (n.*725A>G)
c.530A>G (p.Gln177Arg)
c.434A>G (p.Gln145Arg)
n.2465A>G
Xg.153592603T>GCA415087805CCNQc.560A>C (p.Gln187Pro)
c.193+1944A>C
c.277+3401A>C
c.381A>C
c.*436A>C (n.*436A>C)
c.*725A>C (n.*725A>C)
c.530A>C (p.Gln177Pro)
c.434A>C (p.Gln145Pro)
n.2465A>C

Number of alleles fetched